|
NM_000116.5(TAFAZZIN):c.110-17=
|
rs62617809
|
0.99999
|
|
NM_001267550.2(TTN):c.10726= (p.Thr3576=)
|
rs6433728
|
0.99876
|
|
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro)
|
rs4145333
|
0.99572
|
|
NM_003283.6(TNNT1):c.795= (p.Arg265=)
|
rs890868
|
0.99361
|
|
NM_001458.5(FLNC):c.4404T>C (p.Asp1468=)
|
rs2249128
|
0.99086
|
|
NM_001101362.3(KBTBD13):c.1200T>C (p.Gly400=)
|
rs2919360
|
0.99001
|
|
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=)
|
rs27673
|
0.98545
|
|
NM_006790.3(MYOT):c.220= (p.Gln74=)
|
rs6890689
|
0.98540
|
|
NM_001267550.2(TTN):c.23223G>A (p.Gln7741=)
|
rs2562831
|
0.98238
|
|
NM_001267550.2(TTN):c.14610C>T (p.Ser4870=)
|
rs2742348
|
0.98231
|
|
NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg)
|
rs6710212
|
0.97529
|
|
NM_001267550.2(TTN):c.9879A>G (p.Glu3293=)
|
rs4894043
|
0.97302
|
|
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu)
|
rs1552280
|
0.94745
|
|
NM_001256545.2(MEGF10):c.1114C>T (p.Leu372=)
|
rs31483
|
0.94572
|
|
NM_001267550.2(TTN):c.4480+6C>T
|
rs719201
|
0.94227
|
|
NM_213720.3(CHCHD10):c.261+11A>G
|
rs131444
|
0.92009
|
|
NM_213720.3(CHCHD10):c.48A>C (p.Pro16=)
|
rs179468
|
0.91291
|
|
NM_001927.4(DES):c.75A>G (p.Pro25=)
|
rs1318299
|
0.89847
|
|
NM_001382567.1(STIM1):c.1474+17C>G
|
rs2289570
|
0.89391
|
|
NM_001927.4(DES):c.93T>C (p.Ser31=)
|
rs2017800
|
0.88201
|
|
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=)
|
rs594012
|
0.87913
|
|
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn)
|
rs2291310
|
0.87769
|
|
NM_001848.3(COL6A1):c.2434+15A>G
|
rs2236485
|
0.87616
|
|
NM_001267550.2(TTN):c.11252G>A (p.Gly3751Asp)
|
rs7585334
|
0.87436
|
|
NM_001267550.2(TTN):c.9781G>A (p.Val3261Met)
|
rs2291311
|
0.87338
|
|
NM_001848.3(COL6A1):c.428+14A>G
|
rs3746993
|
0.87078
|
|
NM_001848.3(COL6A1):c.859-19A>G
|
rs2277814
|
0.86865
|
|
NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=)
|
rs2919359
|
0.86820
|
|
NM_001849.4(COL6A2):c.1671+10A>G
|
rs915786
|
0.86241
|
|
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro)
|
rs2270669
|
0.81638
|
|
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His)
|
rs6711382
|
0.81103
|
|
NM_152393.4(KLHL40):c.1849T>C (p.Cys617Arg)
|
rs123509
|
0.81037
|
|
NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr)
|
rs7349185
|
0.78899
|
|
NM_004281.4(BAG3):c.1296A>G (p.Val432=)
|
rs196295
|
0.75935
|
|
NM_004168.4(SDHA):c.891T>C (p.Pro297=)
|
rs1126417
|
0.74998
|
|
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn)
|
rs2839110
|
0.74122
|
|
NM_020451.3(SELENON):c.1173T>C (p.Pro391=)
|
rs760597
|
0.73933
|
|
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser)
|
rs970547
|
0.72620
|
|
NM_004370.6(COL12A1):c.5525-132A>G
|
rs1332778
|
0.71264
|
|
NM_004281.4(BAG3):c.910-21A>C
|
rs196294
|
0.70836
|
|
NM_001267550.2(TTN):c.3601A>G (p.Lys1201Glu)
|
rs10497520
|
0.69988
|
|
NM_001848.3(COL6A1):c.588+13C>A
|
rs754507
|
0.69697
|
|
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn)
|
rs6735208
|
0.69255
|
|
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr)
|
rs6728818
|
0.68552
|
|
NM_001164508.2(NEB):c.771T>C (p.Ala257=)
|
rs4611637
|
0.68008
|
|
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr)
|
rs2288210
|
0.66332
|
|
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met)
|
rs7426114
|
0.66326
|
|
NM_001164508.2(NEB):c.24766-18C>T
|
rs2288195
|
0.64910
|
|
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)
|
rs7575451
|
0.64120
|
|
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys)
|
rs2294228
|
0.64022
|
|
NM_001843.4(CNTN1):c.1416C>T (p.Asn472=)
|
rs1056019
|
0.62528
|
|
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=)
|
rs6709886
|
0.62301
|
|
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=)
|
rs1980982
|
0.60426
|
|
NM_152393.4(KLHL40):c.1034A>G (p.Asn345Ser)
|
rs6805421
|
0.59704
|
|
NM_001378030.1(CCDC78):c.754T>C (p.Trp252Arg)
|
rs2071950
|
0.59279
|
|
NM_000252.3(MTM1):c.1260+3G>A
|
rs222410
|
0.58566
|
|
NM_001848.3(COL6A1):c.1461+18C>A
|
rs2276254
|
0.58488
|
|
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=)
|
rs3790993
|
0.56512
|
|
NM_139343.3(BIN1):c.84+4287G>T
|
rs755639
|
0.56496
|
|
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=)
|
rs4664475
|
0.55659
|
|
NM_001164508.2(NEB):c.21522+78C>G
|
rs60806638
|
0.55600
|
|
NM_001382567.1(STIM1):c.271-3034G>C
|
rs2923950
|
0.51498
|
|
NM_032790.4(ORAI1):c.798T>C (p.Thr266=)
|
rs3825175
|
0.50916
|
|
NM_001848.3(COL6A1):c.1956+15C>T
|
rs11701124
|
0.48762
|
|
NM_001256545.2(MEGF10):c.3387T>A (p.Gly1129=)
|
rs3812052
|
0.48209
|
|
NM_001378030.1(CCDC78):c.766-11G>A
|
rs4984921
|
0.47174
|
|
NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val)
|
rs2919358
|
0.46622
|
|
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)
|
rs1042917
|
0.45419
|
|
NM_001849.4(COL6A2):c.928-19C>T
|
rs762438
|
0.45414
|
|
NM_001101362.3(KBTBD13):c.378G>T (p.Ala126=)
|
rs2946642
|
0.45129
|
|
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg)
|
rs2244492
|
0.44551
|
|
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=)
|
rs13046639
|
0.44460
|
|
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=)
|
rs13052956
|
0.44458
|
|
NM_001382567.1(STIM1):c.1080A>G (p.Gln360=)
|
rs2304891
|
0.43325
|
|
NM_017534.6(MYH2):c.324A>G (p.Glu108=)
|
rs12600539
|
0.42634
|
|
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)
|
rs1061305
|
0.40617
|
|
NM_017534.6(MYH2):c.904+10G>A
|
rs719277
|
0.39768
|
|
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=)
|
rs4433949
|
0.38748
|
|
NM_004281.4(BAG3):c.*218G>C
|
rs8946
|
0.38461
|
|
NM_001927.4(DES):c.1014G>C (p.Leu338=)
|
rs12920
|
0.37027
|
|
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile)
|
rs1131296
|
0.36920
|
|
NM_001927.4(DES):c.828C>T (p.Asp276=)
|
rs1058261
|
0.36815
|
|
NM_001927.4(DES):c.1104G>A (p.Ala368=)
|
rs1058284
|
0.36806
|
|
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=)
|
rs4894029
|
0.35796
|
|
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp)
|
rs1001238
|
0.35628
|
|
NM_001267550.2(TTN):c.61245A>G (p.Thr20415=)
|
rs2163009
|
0.35615
|
|
NM_001267550.2(TTN):c.62058T>C (p.Tyr20686=)
|
rs1560221
|
0.35601
|
|
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val)
|
rs2042995
|
0.35566
|
|
NM_001267550.2(TTN):c.105384A>G (p.Ala35128=)
|
rs3813250
|
0.35546
|
|
NM_001267550.2(TTN):c.83673T>C (p.Gly27891=)
|
rs2366751
|
0.35531
|
|
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val)
|
rs3829746
|
0.35516
|
|
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)
|
rs9808377
|
0.35383
|
|
NM_198859.4(PRICKLE2):c.259-6A>G
|
rs2306380
|
0.35289
|
|
NM_001267550.2(TTN):c.97795+6G>T
|
rs3731750
|
0.35139
|
|
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile)
|
rs2042996
|
0.34979
|
|
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn)
|
rs13013209
|
0.34676
|
|
NM_017534.6(MYH2):c.3263+15A>G
|
rs2277651
|
0.34231
|
|
NM_001267550.2(TTN):c.26289A>G (p.Glu8763=)
|
rs2562838
|
0.33531
|
|
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His)
|
rs1053312
|
0.32867
|
|
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=)
|
rs1053315
|
0.32659
|
|
NM_001267550.2(TTN):c.2244G>A (p.Glu748=)
|
rs6715406
|
0.32532
|
|
NM_001849.4(COL6A2):c.2184G>A (p.Val728=)
|
rs2839114
|
0.32526
|
|
NM_001458.5(FLNC):c.5398+16T>C
|
rs13227216
|
0.32203
|
|
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=)
|
rs1053320
|
0.32005
|
|
NM_001848.3(COL6A1):c.2434+20G>A
|
rs2236486
|
0.31361
|
|
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro)
|
rs6713162
|
0.31314
|
|
NM_001267550.2(TTN):c.23099-3T>C
|
rs2562830
|
0.31174
|
|
NM_139343.3(BIN1):c.698+10A>G
|
rs72481904
|
0.30545
|
|
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=)
|
rs10170273
|
0.30371
|
|
NM_001164508.2(NEB):c.6807+6T>G
|
rs10930723
|
0.29833
|
|
NM_001267550.2(TTN):c.26091A>T (p.Leu8697=)
|
rs2562836
|
0.29823
|
|
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=)
|
rs2562839
|
0.29759
|
|
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr)
|
rs240736
|
0.29412
|
|
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu)
|
rs2627043
|
0.29094
|
|
NM_139343.3(BIN1):c.486T>C (p.Thr162=)
|
rs1060743
|
0.29063
|
|
NM_001458.5(FLNC):c.3973C>T (p.Leu1325=)
|
rs34373805
|
0.28610
|
|
NM_001458.5(FLNC):c.3297A>G (p.Val1099=)
|
rs3734973
|
0.28603
|
|
NM_001848.3(COL6A1):c.1957-11C>T
|
rs8132521
|
0.28523
|
|
NM_001100.4(ACTA1):c.130-5T>C
|
rs11803533
|
0.26938
|
|
NM_004168.4(SDHA):c.1932G>A (p.Val644=)
|
rs6961
|
0.26598
|
|
NM_001164508.2(NEB):c.16705-18C>T
|
rs61254943
|
0.26527
|
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
|
NM_004168.4(SDHA):c.1038C>G (p.Ser346=)
|
rs1041949
|
0.26134
|
|
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=)
|
rs2646254
|
0.25503
|
|
NM_004168.4(SDHA):c.619A>C (p.Arg207=)
|
rs6555055
|
0.25190
|
|
NM_004168.4(SDHA):c.1752A>G (p.Ala584=)
|
rs13070
|
0.25187
|
|
NM_004168.4(SDHA):c.684T>C (p.Asn228=)
|
rs2115272
|
0.25174
|
|
NM_004168.4(SDHA):c.309A>G (p.Ala103=)
|
rs1139424
|
0.25161
|
|
NM_004168.4(SDHA):c.1680G>A (p.Thr560=)
|
rs1139449
|
0.25156
|
|
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=)
|
rs2288211
|
0.24726
|
|
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe)
|
rs6960
|
0.24550
|
|
NM_001267550.2(TTN):c.67637-17T>C
|
rs2288571
|
0.24363
|
|
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=)
|
rs17720698
|
0.24032
|
|
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met)
|
rs3731746
|
0.24029
|
|
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile)
|
rs2303838
|
0.23912
|
|
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=)
|
rs2645774
|
0.23421
|
|
NM_001267550.2(TTN):c.70830C>T (p.Ser23610=)
|
rs12464787
|
0.23390
|
|
NM_001267550.2(TTN):c.18029-19G>C
|
rs17076
|
0.22460
|
|
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His)
|
rs36051007
|
0.21486
|
|
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr)
|
rs12463674
|
0.21485
|
|
NM_001164508.2(NEB):c.11077-19T>C
|
rs4303716
|
0.21438
|
|
NM_001267550.2(TTN):c.57315T>C (p.His19105=)
|
rs35833641
|
0.21406
|
|
NM_001378030.1(CCDC78):c.180+19C>G
|
rs12446058
|
0.21130
|
|
NM_001267550.2(TTN):c.11422C>T (p.Pro3808Ser)
|
rs2627037
|
0.20680
|
|
NM_001100.4(ACTA1):c.130-10G>C
|
rs41271481
|
0.20670
|
|
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=)
|
rs12622093
|
0.20507
|
|
NM_001267550.2(TTN):c.36508G>A (p.Glu12170Lys)
|
rs2163008
|
0.20385
|
|
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile)
|
rs34577613
|
0.20341
|
|
NM_139343.3(BIN1):c.858-12C>A
|
rs6720741
|
0.20254
|
|
NM_001256545.2(MEGF10):c.660-3C>T
|
rs6595769
|
0.19743
|
|
NM_001256545.2(MEGF10):c.1785T>C (p.Pro595=)
|
rs11950427
|
0.19610
|
|
NM_001378030.1(CCDC78):c.180+11G>T
|
rs12448312
|
0.19609
|
|
NM_001378030.1(CCDC78):c.180+12G>T
|
rs12448311
|
0.19608
|
|
NM_001164508.2(NEB):c.3901= (p.Tyr1301=)
|
rs6711382
|
0.18897
|
|
NM_001458.5(FLNC):c.5763T>C (p.Thr1921=)
|
rs3816884
|
0.18399
|
|
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile)
|
rs6962
|
0.18133
|
|
NM_001848.3(COL6A1):c.903+14C>A
|
rs34495634
|
0.17795
|
|
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile)
|
rs35813871
|
0.17564
|
|
NM_001849.4(COL6A2):c.1333-8T>C
|
rs73159701
|
0.17496
|
|
NM_001164508.2(NEB):c.3879+20G>T
|
rs12618063
|
0.17493
|
|
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)
|
rs33988153
|
0.17490
|
|
NM_017534.6(MYH2):c.5034C>T (p.Ala1678=)
|
rs1042236
|
0.17365
|
|
NM_000183.3(HADHB):c.825T>C (p.Val275=)
|
rs1056389
|
0.17317
|
|
NM_000183.3(HADHB):c.1014-14A>G
|
rs17528590
|
0.17198
|
|
NM_001458.5(FLNC):c.2265+12C>G
|
rs2291566
|
0.17192
|
|
NM_000182.5(HADHA):c.474C>T (p.Tyr158=)
|
rs11552518
|
0.16973
|
|
NM_001256545.2(MEGF10):c.588G>A (p.Gln196=)
|
rs3812055
|
0.16961
|
|
NM_001267550.2(TTN):c.8902+14del
|
rs573000455
|
0.16798
|
|
NM_001267550.2(TTN):c.8902+16del
|
rs570467105
|
0.16737
|
|
NM_001267550.2(TTN):c.98098+9T>A
|
rs2288325
|
0.16490
|
|
NM_001267550.2(TTN):c.104988C>T (p.Val34996=)
|
rs3829748
|
0.16457
|
|
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His)
|
rs12693166
|
0.16435
|
|
NM_001267550.2(TTN):c.33834G>A (p.Glu11278=)
|
rs35112591
|
0.16327
|
|
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser)
|
rs12693164
|
0.16204
|
|
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn)
|
rs13390491
|
0.16202
|
|
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala)
|
rs16866465
|
0.15861
|
|
NM_001458.5(FLNC):c.7221C>T (p.Asp2407=)
|
rs3816885
|
0.15729
|
|
NM_001267550.2(TTN):c.102519C>T (p.Gly34173=)
|
rs2857265
|
0.15539
|
|
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=)
|
rs3731748
|
0.15537
|
|
NM_001458.5(FLNC):c.4431G>A (p.Leu1477=)
|
rs2291568
|
0.15512
|
|
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu)
|
rs13051496
|
0.15479
|
|
NM_032790.4(ORAI1):c.546C>T (p.Ile182=)
|
rs3741595
|
0.14694
|
|
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg)
|
rs2234962
|
0.14532
|
|
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=)
|
rs6652
|
0.14487
|
|
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His)
|
rs3731749
|
0.14445
|
|
NM_001256545.2(MEGF10):c.3215G>A (p.Arg1072Lys)
|
rs17164935
|
0.14236
|
|
NM_001843.4(CNTN1):c.1014T>C (p.Asn338=)
|
rs935105
|
0.13920
|
|
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=)
|
rs9977394
|
0.13855
|
|
NM_139343.3(BIN1):c.957C>T (p.Ala319=)
|
rs2276579
|
0.13837
|
|
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu)
|
rs16866406
|
0.13367
|
|
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His)
|
rs2288569
|
0.13356
|
|
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His)
|
rs3829747
|
0.13294
|
|
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys)
|
rs744426
|
0.13213
|
|
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=)
|
rs2291795
|
0.12954
|
|
NM_004281.4(BAG3):c.1220C>T (p.Pro407Leu)
|
rs3858340
|
0.12393
|
|
NM_004281.4(BAG3):c.1002T>G (p.Pro334=)
|
rs3858339
|
0.12375
|
|
NM_001843.4(CNTN1):c.2711-17A>G
|
rs12367345
|
0.12247
|
|
NM_001458.5(FLNC):c.1032C>T (p.Val344=)
|
rs2291562
|
0.12206
|
|
NM_001849.4(COL6A2):c.1609-10C>T
|
rs17357592
|
0.11879
|
|
NM_001458.5(FLNC):c.1458C>A (p.Pro486=)
|
rs2291563
|
0.11830
|
|
NM_032790.4(ORAI1):c.121G>A (p.Gly41Arg)
|
rs782650611
|
0.11673
|
|
NM_001843.4(CNTN1):c.1805-14C>A
|
rs10784981
|
0.11616
|
|
NM_003283.6(TNNT1):c.47-13C>T
|
rs11669534
|
0.11553
|
|
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met)
|
rs747122
|
0.11550
|
|
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys)
|
rs2742347
|
0.11354
|
|
NM_001164508.2(NEB):c.11077-4G>T
|
rs878924060
|
0.11336
|
|
NM_004370.6(COL12A1):c.8265+19A>T
|
rs9447445
|
0.11270
|
|
NM_001458.5(FLNC):c.720T>C (p.Ile240=)
|
rs2291560
|
0.11080
|
|
NM_001458.5(FLNC):c.795T>C (p.Gly265=)
|
rs2291561
|
0.10971
|
|
NM_004370.6(COL12A1):c.1892-8_1892-6del
|
rs199713791
|
0.10881
|
|
NM_001256545.2(MEGF10):c.616G>A (p.Val206Ile)
|
rs3812054
|
0.10861
|
|
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=)
|
rs2646265
|
0.10608
|
|
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=)
|
rs2646258
|
0.10531
|
|
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys)
|
rs16866538
|
0.10360
|
|
NM_004168.4(SDHA):c.1170C>T (p.Phe390=)
|
rs35277230
|
0.10356
|
|
NM_003283.6(TNNT1):c.129-9T>G
|
rs67795913
|
0.10318
|
|
NM_001164508.2(NEB):c.2944-9G>A
|
rs13427102
|
0.10205
|
|
NM_139343.3(BIN1):c.775-4G>A
|
rs61748157
|
0.10181
|
|
NM_004369.4(COL6A3):c.9213C>T (p.His3071=)
|
rs2270671
|
0.10029
|
|
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val)
|
rs12994774
|
0.09975
|
|
NM_001267550.2(TTN):c.9597A>G (p.Glu3199=)
|
rs2291312
|
0.09947
|
|
NM_001849.4(COL6A2):c.663C>T (p.Pro221=)
|
rs59531343
|
0.09859
|
|
NM_001267550.2(TTN):c.68217T>C (p.His22739=)
|
rs10497517
|
0.09829
|
|
NM_001164508.2(NEB):c.6184-14T>A
|
rs10173335
|
0.09664
|
|
NM_001458.5(FLNC):c.147C>T (p.His49=)
|
rs3734972
|
0.09267
|
|
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=)
|
rs2291306
|
0.09235
|
|
NM_001267550.2(TTN):c.75522A>C (p.Ala25174=)
|
rs6732060
|
0.09129
|
|
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=)
|
rs72648978
|
0.08958
|
|
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu)
|
rs61752479
|
0.08857
|
|
NM_001458.5(FLNC):c.4056C>T (p.Arg1352=)
|
rs75770585
|
0.08775
|
|
NM_000183.3(HADHB):c.1149+4A>T
|
rs2303893
|
0.08727
|
|
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
|
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr)
|
rs4893852
|
0.08349
|
|
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=)
|
rs6717213
|
0.08304
|
|
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg)
|
rs35548026
|
0.08193
|
|
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr)
|
rs62621236
|
0.08189
|
|
NM_006063.3(KLHL41):c.811G>A (p.Ala271Thr)
|
rs28763868
|
0.08132
|
|
NM_001458.5(FLNC):c.850+18G>A
|
rs55907818
|
0.08058
|
|
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu)
|
rs13398235
|
0.07839
|
|
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=)
|
rs56207956
|
0.07828
|
|
NM_001267550.2(TTN):c.25921+10C>T
|
rs10183237
|
0.07769
|
|
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu)
|
rs36117715
|
0.07538
|
|
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val)
|
rs11690358
|
0.07295
|
|
NM_001164508.2(NEB):c.25150+12G>A
|
rs4414676
|
0.07283
|
|
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=)
|
rs16866425
|
0.07162
|
|
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr)
|
rs886038435
|
0.07143
|
|
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu)
|
rs6723526
|
0.07129
|
|
NM_001368067.1(LDB3):c.504T>C (p.Asp168=)
|
rs76615432
|
0.06909
|
|
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=)
|
rs61729844
|
0.06907
|
|
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=)
|
rs34558385
|
0.06903
|
|
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=)
|
rs11683438
|
0.06890
|
|
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=)
|
rs35281128
|
0.06868
|
|
NM_007078.3(LDB3):c.690-4842G>A
|
rs113445294
|
0.06823
|
|
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly)
|
rs112562759
|
0.06801
|
|
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=)
|
rs10084221
|
0.06701
|
|
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=)
|
rs10201909
|
0.06660
|
|
NM_001267550.2(TTN):c.29763T>C (p.Ile9921=)
|
rs2742343
|
0.06625
|
|
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=)
|
rs34460293
|
0.06381
|
|
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln)
|
rs2291569
|
0.06258
|
|
NM_001927.4(DES):c.578+11G>A
|
rs111548596
|
0.06130
|
|
NM_001267550.2(TTN):c.38753T>C (p.Leu12918Ser)
|
rs2562847
|
0.06111
|
|
NM_001849.4(COL6A2):c.1770+4G>A
|
rs9981981
|
0.06098
|
|
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His)
|
rs10164753
|
0.06031
|
|
NM_017534.6(MYH2):c.1975-9G>A
|
rs3744566
|
0.06015
|
|
NM_001267550.2(TTN):c.29042-16G>A
|
rs10203085
|
0.05999
|
|
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=)
|
rs16866473
|
0.05854
|
|
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=)
|
rs3731744
|
0.05786
|
|
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln)
|
rs11896521
|
0.05751
|
|
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser)
|
rs4894048
|
0.05739
|
|
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala)
|
rs16866378
|
0.05725
|
|
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn)
|
rs11888217
|
0.05644
|
|
NM_001267550.2(TTN):c.105582C>T (p.Ser35194=)
|
rs3829749
|
0.05620
|
|
NM_001267550.2(TTN):c.15792T>C (p.Ile5264=)
|
rs12993099
|
0.05590
|
|
NM_213720.3(CHCHD10):c.286C>A (p.Pro96Thr)
|
rs111677724
|
0.05376
|
|
NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val)
|
rs35710072
|
0.05341
|
|
NM_001267550.2(TTN):c.30683-18C>T
|
rs587780977
|
0.05317
|
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
|
NM_001267550.2(TTN):c.3087T>C (p.Tyr1029=)
|
rs55863869
|
0.05117
|
|
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=)
|
rs2742344
|
0.05063
|
|
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=)
|
rs4894045
|
0.05021
|
|
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg)
|
rs4893853
|
0.05020
|
|
NM_001382567.1(STIM1):c.1138-9T>C
|
rs58461583
|
0.05004
|
|
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr)
|
rs75807392
|
0.04908
|
|
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn)
|
rs2306636
|
0.04907
|
|
NM_001267550.2(TTN):c.13218C>T (p.Ala4406=)
|
rs1883084
|
0.04879
|
|
NM_001267550.2(TTN):c.13594A>C (p.Thr4532Pro)
|
rs2562829
|
0.04828
|
|
NM_001267550.2(TTN):c.13800A>C (p.Leu4600Phe)
|
rs1883085
|
0.04810
|
|
NM_001267550.2(TTN):c.12255T>C (p.Ile4085=)
|
rs2742357
|
0.04800
|
|
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=)
|
rs2291308
|
0.04799
|
|
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile)
|
rs56142888
|
0.04798
|
|
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln)
|
rs12476289
|
0.04792
|
|
NM_139343.3(BIN1):c.1573-18G>C
|
rs12466912
|
0.04714
|
|
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=)
|
rs9808036
|
0.04549
|
|
NM_001382567.1(STIM1):c.385+12C>T
|
rs114583092
|
0.04548
|
|
NM_198271.5(LMOD3):c.642G>A (p.Ser214=)
|
rs9815992
|
0.04475
|
|
NM_001267550.2(TTN):c.26200+19A>T
|
rs2562837
|
0.04396
|
|
NM_001267550.2(TTN):c.28662G>A (p.Arg9554=)
|
rs2742332
|
0.04384
|
|
NM_001164508.2(NEB):c.20467-4T>A
|
rs199791504
|
0.04348
|
|
NM_003283.6(TNNT1):c.33-8G>A
|
rs76630067
|
0.04332
|
|
NM_001164508.2(NEB):c.20192A>T (p.Asp6731Val)
|
rs2288200
|
0.04316
|
|
NM_139343.3(BIN1):c.714C>T (p.Tyr238=)
|
rs1137845
|
0.04283
|
|
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln)
|
rs72648998
|
0.04075
|
|
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu)
|
rs16866380
|
0.04073
|
|
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn)
|
rs3813243
|
0.04071
|
|
NM_001164508.2(NEB):c.20598C>G (p.Gly6866=)
|
rs16830192
|
0.04050
|
|
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His)
|
rs4894028
|
0.03961
|
|
NM_139343.3(BIN1):c.894G>A (p.Ser298=)
|
rs2228955
|
0.03955
|
|
NM_001267550.2(TTN):c.49731T>C (p.His16577=)
|
rs2115558
|
0.03943
|
|
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val)
|
rs3731752
|
0.03923
|
|
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=)
|
rs13031275
|
0.03886
|
|
NM_198271.5(LMOD3):c.1270T>C (p.Leu424=)
|
rs72924884
|
0.03865
|
|
NM_001843.4(CNTN1):c.1893T>C (p.His631=)
|
rs2229929
|
0.03763
|
|
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile)
|
rs2278196
|
0.03742
|
|
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val)
|
rs16866412
|
0.03700
|
|
NM_003283.6(TNNT1):c.751-16T>C
|
rs77273500
|
0.03649
|
|
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys)
|
rs73038324
|
0.03639
|
|
NM_001164508.2(NEB):c.16762T>A (p.Ser5588Thr)
|
rs35227368
|
0.03610
|
|
NM_152393.4(KLHL40):c.324A>G (p.Ala108=)
|
rs35033264
|
0.03599
|
|
NM_001378030.1(CCDC78):c.549G>A (p.Leu183=)
|
rs8055909
|
0.03578
|
|
NM_000252.3(MTM1):c.232-28C>T
|
rs73620649
|
0.03576
|
|
NM_001849.4(COL6A2):c.714+9C>T
|
rs78822624
|
0.03565
|
|
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=)
|
rs72677244
|
0.03561
|
|
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val)
|
rs35523808
|
0.03556
|
|
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val)
|
rs72646881
|
0.03550
|
|
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile)
|
rs67665715
|
0.03523
|
|
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr)
|
rs11896637
|
0.03502
|
|
NM_001267550.2(TTN):c.37705G>A (p.Val12569Ile)
|
rs568086259
|
0.03479
|
|
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val)
|
rs16866531
|
0.03468
|
|
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=)
|
rs16978875
|
0.03433
|
|
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=)
|
rs34180031
|
0.03419
|
|
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)
|
rs56308529
|
0.03418
|
|
NM_001267550.2(TTN):c.36532+19A>G
|
rs10204913
|
0.03369
|
|
NM_001256545.2(MEGF10):c.3162G>A (p.Pro1054=)
|
rs17164938
|
0.03315
|
|
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=)
|
rs74852641
|
0.03265
|
|
NM_004369.4(COL6A3):c.1914G>A (p.Arg638=)
|
rs34904623
|
0.03265
|
|
NM_001843.4(CNTN1):c.1956A>G (p.Ala652=)
|
rs2229930
|
0.03222
|
|
NM_001267550.2(TTN):c.65575+19T>G
|
rs72646865
|
0.03204
|
|
NM_000036.3(AMPD1):c.215+10G>A
|
rs6683173
|
0.03175
|
|
NM_152393.4(KLHL40):c.1053C>T (p.His351=)
|
rs61736693
|
0.03162
|
|
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=)
|
rs61730765
|
0.03096
|
|
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met)
|
rs112318500
|
0.03069
|
|
NM_001164508.2(NEB):c.19102-6C>T
|
rs145127681
|
0.03008
|
|
NM_001848.3(COL6A1):c.2435-19C>T
|
rs115181427
|
0.03003
|
|
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=)
|
rs76046880
|
0.02993
|
|
NM_032790.4(ORAI1):c.786T>C (p.Val262=)
|
rs3825174
|
0.02969
|
|
NM_032790.4(ORAI1):c.652A>G (p.Ser218Gly)
|
rs3741596
|
0.02966
|
|
NM_198271.5(LMOD3):c.759T>C (p.Pro253=)
|
rs115972674
|
0.02947
|
|
NM_032790.4(ORAI1):c.705T>C (p.Ala235=)
|
rs3741597
|
0.02920
|
|
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val)
|
rs17355446
|
0.02915
|
|
NM_004168.4(SDHA):c.113A>T (p.Asp38Val)
|
rs34635677
|
0.02888
|
|
NM_001267550.2(TTN):c.32393-12A>G
|
rs16866434
|
0.02884
|
|
NM_001927.4(DES):c.669T>C (p.Ile223=)
|
rs75882680
|
0.02876
|
|
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=)
|
rs61735853
|
0.02858
|
|
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp)
|
rs34800215
|
0.02813
|
|
NM_001458.5(FLNC):c.2390-13C>T
|
rs78086167
|
0.02800
|
|
NM_020451.3(SELENON):c.981C>T (p.Arg327=)
|
rs147587542
|
0.02788
|
|
NM_001458.5(FLNC):c.5669-12C>T
|
rs79790270
|
0.02786
|
|
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val)
|
rs73973133
|
0.02781
|
|
NM_001256545.2(MEGF10):c.116+10T>C
|
rs10519949
|
0.02763
|
|
NM_001164508.2(NEB):c.21382T>C (p.Leu7128=)
|
rs114218081
|
0.02752
|
|
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His)
|
rs36092870
|
0.02734
|
|
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
|
NM_001927.4(DES):c.408C>T (p.Leu136=)
|
rs111828114
|
0.02697
|
|
NM_007078.3(LDB3):c.1074C>T (p.Ala358=)
|
rs45459491
|
0.02688
|
|
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn)
|
rs35881321
|
0.02685
|
|
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=)
|
rs61729843
|
0.02678
|
|
NM_004369.4(COL6A3):c.882C>T (p.Phe294=)
|
rs7561625
|
0.02665
|
|
NM_004369.4(COL6A3):c.1313-17A>G
|
rs7579816
|
0.02624
|
|
NM_004370.6(COL12A1):c.4001-10G>A
|
rs73749974
|
0.02617
|
|
NM_001256545.2(MEGF10):c.2199C>T (p.Cys733=)
|
rs35591368
|
0.02614
|
|
NM_001267550.2(TTN):c.8116+19G>A
|
rs13011633
|
0.02607
|
|
NM_001164508.2(NEB):c.19732-6C>T
|
rs11894996
|
0.02589
|
|
NM_001848.3(COL6A1):c.1273-8C>T
|
rs7280215
|
0.02565
|
|
NM_198271.5(LMOD3):c.248G>A (p.Arg83His)
|
rs35740823
|
0.02551
|
|
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu)
|
rs72648986
|
0.02522
|
|
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)
|
rs34717730
|
0.02506
|
|
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=)
|
rs35429515
|
0.02487
|
|
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr)
|
rs75535959
|
0.02433
|
|
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr)
|
rs35683768
|
0.02431
|
|
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=)
|
rs34181055
|
0.02427
|
|
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His)
|
rs2562832
|
0.02406
|
|
NM_001267550.2(TTN):c.25707T>C (p.Tyr8569=)
|
rs2742329
|
0.02401
|
|
NM_001843.4(CNTN1):c.401-9C>T
|
rs57340925
|
0.02401
|
|
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=)
|
rs61004744
|
0.02387
|
|
NM_001164508.2(NEB):c.612+8T>C
|
rs113095802
|
0.02379
|
|
NM_020451.3(SELENON):c.1745G>A (p.Arg582Gln)
|
rs74060854
|
0.02376
|
|
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His)
|
rs72648970
|
0.02369
|
|
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu)
|
rs13021201
|
0.02363
|
|
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=)
|
rs73036398
|
0.02352
|
|
NM_020451.3(SELENON):c.42C>T (p.Pro14=)
|
rs187960531
|
0.02295
|
|
NM_000182.5(HADHA):c.1392+10G>A
|
rs60085478
|
0.02277
|
|
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=)
|
rs61232800
|
0.02248
|
|
NM_001164508.2(NEB):c.8466C>T (p.His2822=)
|
rs61730771
|
0.02236
|
|
NM_133378.4(TTN):c.93062-10T>C
|
rs202214630
|
0.02222
|
|
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys)
|
rs2229420
|
0.02193
|
|
NM_001267550.2(TTN):c.36203-9T>C
|
rs2562849
|
0.02192
|
|
NM_001267550.2(TTN):c.38880A>G (p.Pro12960=)
|
rs2742354
|
0.02192
|
|
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=)
|
rs55847232
|
0.02188
|
|
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=)
|
rs2303829
|
0.02187
|
|
NM_001848.3(COL6A1):c.1314G>A (p.Thr438=)
|
rs7279254
|
0.02172
|
|
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=)
|
rs72648932
|
0.02158
|
|
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu)
|
rs11910483
|
0.02152
|
|
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=)
|
rs35445420
|
0.02143
|
|
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile)
|
rs55675869
|
0.02132
|
|
NM_001927.4(DES):c.1026C>T (p.Asn342=)
|
rs61731508
|
0.02125
|
|
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=)
|
rs56034831
|
0.02114
|
|
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln)
|
rs61730780
|
0.02113
|
|
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=)
|
rs55895721
|
0.02109
|
|
NM_001267550.2(TTN):c.67635T>C (p.Val22545=)
|
rs2288570
|
0.02106
|
|
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=)
|
rs34340053
|
0.02105
|
|
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=)
|
rs2303831
|
0.02082
|
|
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg)
|
rs2288563
|
0.02080
|
|
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile)
|
rs2303832
|
0.02072
|
|
NM_000183.3(HADHB):c.966G>A (p.Ala322=)
|
rs7572240
|
0.02064
|
|
NM_001267550.2(TTN):c.36318A>G (p.Lys12106=)
|
rs2115557
|
0.02057
|
|
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly)
|
rs72648982
|
0.02056
|
|
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=)
|
rs2288566
|
0.02055
|
|
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=)
|
rs13879
|
0.02053
|
|
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser)
|
rs34934127
|
0.02035
|
|
NM_004370.6(COL12A1):c.5225G>A (p.Arg1742His)
|
rs79830915
|
0.02025
|
|
NM_001267550.2(TTN):c.86811A>G (p.Val28937=)
|
rs55972010
|
0.02012
|
|
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)
|
rs11694623
|
0.01999
|
|
NM_001267550.2(TTN):c.87669T>C (p.His29223=)
|
rs72648229
|
0.01997
|
|
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=)
|
rs12621078
|
0.01996
|
|
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His)
|
rs3813245
|
0.01993
|
|
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala)
|
rs56018860
|
0.01992
|
|
NM_001267550.2(TTN):c.91852+8T>A
|
rs56145100
|
0.01992
|
|
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly)
|
rs72648257
|
0.01992
|
|
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr)
|
rs3731745
|
0.01991
|
|
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser)
|
rs3813246
|
0.01989
|
|
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=)
|
rs3813247
|
0.01986
|
|
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile)
|
rs56309296
|
0.01985
|
|
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr)
|
rs56365600
|
0.01984
|
|
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys)
|
rs56057221
|
0.01984
|
|
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=)
|
rs72648260
|
0.01980
|
|
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=)
|
rs56214710
|
0.01979
|
|
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=)
|
rs35902696
|
0.01962
|
|
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=)
|
rs72648950
|
0.01956
|
|
NM_001927.4(DES):c.372G>A (p.Glu124=)
|
rs34365369
|
0.01950
|
|
NM_001100.4(ACTA1):c.996C>A (p.Ile332=)
|
rs74897770
|
0.01920
|
|
NM_001382567.1(STIM1):c.1705C>T (p.Pro569Ser)
|
rs35960304
|
0.01918
|
|
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser)
|
rs72650006
|
0.01917
|
|
NM_000182.5(HADHA):c.109+20A>G
|
rs7569108
|
0.01898
|
|
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)
|
rs61735829
|
0.01898
|
|
NM_001378030.1(CCDC78):c.937C>T (p.Leu313=)
|
rs61998209
|
0.01878
|
|
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=)
|
rs72648983
|
0.01872
|
|
NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp)
|
rs200021871
|
0.01863
|
|
NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile)
|
rs762149243
|
0.01857
|
|
NM_007078.3(LDB3):c.1903G>A (p.Val635Ile)
|
rs45618633
|
0.01846
|
|
NM_020451.3(SELENON):c.1387+11C>T
|
rs59653066
|
0.01839
|
|
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val)
|
rs114331773
|
0.01832
|
|
NM_001267550.2(TTN):c.49648+16T>C
|
rs57677875
|
0.01831
|
|
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=)
|
rs35993209
|
0.01827
|
|
NM_004369.4(COL6A3):c.3071-16G>A
|
rs73998896
|
0.01822
|
|
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=)
|
rs35763271
|
0.01816
|
|
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=)
|
rs80193928
|
0.01815
|
|
NM_001256545.2(MEGF10):c.2076C>T (p.Pro692=)
|
rs115309591
|
0.01810
|
|
NM_000182.5(HADHA):c.1620+11G>C
|
rs112236946
|
0.01807
|
|
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe)
|
rs57389274
|
0.01798
|
|
NM_001101362.3(KBTBD13):c.1128G>A (p.Thr376=)
|
rs116623596
|
0.01793
|
|
NM_001848.3(COL6A1):c.1957-5C>T
|
rs78224483
|
0.01793
|
|
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn)
|
rs72647843
|
0.01782
|
|
NM_001267550.2(TTN):c.22611T>C (p.His7537=)
|
rs16866469
|
0.01765
|
|
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln)
|
rs35974308
|
0.01764
|
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
|
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu)
|
rs41270201
|
0.01730
|
|
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)
|
rs56027402
|
0.01724
|
|
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)
|
rs72648962
|
0.01709
|
|
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=)
|
rs116353694
|
0.01695
|
|
NM_001267550.2(TTN):c.37202-4T>C
|
rs202032281
|
0.01693
|
|
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn)
|
rs35625617
|
0.01691
|
|
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)
|
rs72647851
|
0.01678
|
|
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg)
|
rs34423165
|
0.01671
|
|
NM_001267550.2(TTN):c.36855G>A (p.Pro12285=)
|
rs535294541
|
0.01666
|
|
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys)
|
rs72648987
|
0.01656
|
|
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val)
|
rs72648954
|
0.01649
|
|
NM_001256545.2(MEGF10):c.984C>T (p.Asn328=)
|
rs35550094
|
0.01638
|
|
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe)
|
rs72648270
|
0.01635
|
|
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val)
|
rs56376197
|
0.01633
|
|
NM_001256545.2(MEGF10):c.3189G>A (p.Glu1063=)
|
rs56157640
|
0.01628
|
|
NM_001256545.2(MEGF10):c.1841-20G>A
|
rs79904777
|
0.01625
|
|
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln)
|
rs35686968
|
0.01624
|
|
NM_006790.3(MYOT):c.780G>A (p.Ser260=)
|
rs116773838
|
0.01617
|
|
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe)
|
rs33917087
|
0.01611
|
|
NM_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro)
|
rs34846477
|
0.01603
|
|
NM_004370.6(COL12A1):c.6444A>T (p.Ile2148=)
|
rs36002196
|
0.01590
|
|
NM_001848.3(COL6A1):c.1524+15G>A
|
rs116000285
|
0.01582
|
|
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=)
|
rs72646847
|
0.01577
|
|
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)
|
rs72647875
|
0.01559
|
|
NM_213720.3(CHCHD10):c.42-7C>G
|
rs567239313
|
0.01558
|
|
NM_007078.3(LDB3):c.609G>A (p.Ser203=)
|
rs45531131
|
0.01554
|
|
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)
|
rs6725673
|
0.01548
|
|
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr)
|
rs744427
|
0.01542
|
|
NM_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
|
NM_198271.5(LMOD3):c.878G>A (p.Gly293Asp)
|
rs111797345
|
0.01530
|
|
NM_001267550.2(TTN):c.52706-17A>G
|
rs72646807
|
0.01524
|
|
NM_004369.4(COL6A3):c.6157-16G>A
|
rs112637114
|
0.01524
|
|
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=)
|
rs28437296
|
0.01520
|
|
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=)
|
rs66523653
|
0.01518
|
|
NM_004168.4(SDHA):c.1305G>T (p.Leu435=)
|
rs35964044
|
0.01515
|
|
NM_001458.5(FLNC):c.1374C>T (p.Pro458=)
|
rs115140972
|
0.01514
|
|
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys)
|
rs62618736
|
0.01503
|
|
NM_001267550.2(TTN):c.2781A>C (p.Thr927=)
|
rs55892860
|
0.01493
|
|
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys)
|
rs79926414
|
0.01477
|
|
NM_001267550.2(TTN):c.40141+7G>A
|
rs77960621
|
0.01470
|
|
NM_001458.5(FLNC):c.8118C>T (p.Leu2706=)
|
rs28379666
|
0.01465
|
|
NM_006790.3(MYOT):c.220C>A (p.Gln74Lys)
|
rs6890689
|
0.01460
|
|
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His)
|
rs56307213
|
0.01455
|
|
NM_004370.6(COL12A1):c.834T>G (p.Ala278=)
|
rs16886258
|
0.01455
|
|
NM_198271.5(LMOD3):c.1226A>G (p.Gln409Arg)
|
rs116257053
|
0.01432
|
|
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)
|
rs35740585
|
0.01429
|
|
NM_004370.6(COL12A1):c.1551A>G (p.Thr517=)
|
rs34767467
|
0.01428
|
|
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)
|
rs16866391
|
0.01426
|
|
NM_004370.6(COL12A1):c.2007G>A (p.Ala669=)
|
rs77790445
|
0.01425
|
|
NM_004370.6(COL12A1):c.2086T>C (p.Leu696=)
|
rs116691242
|
0.01422
|
|
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=)
|
rs55757622
|
0.01419
|
|
NM_139343.3(BIN1):c.1362G>T (p.Gly454=)
|
rs61748155
|
0.01414
|
|
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=)
|
rs2303836
|
0.01401
|
|
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr)
|
rs36043230
|
0.01390
|
|
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=)
|
rs34367758
|
0.01387
|
|
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=)
|
rs112290343
|
0.01385
|
|
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=)
|
rs80244281
|
0.01378
|
|
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=)
|
rs35489467
|
0.01378
|
|
NM_004168.4(SDHA):c.1776T>C (p.His592=)
|
rs1126538
|
0.01372
|
|
NM_001164508.2(NEB):c.11148G>C (p.Met3716Ile)
|
rs149025191
|
0.01369
|
|
NM_001164508.2(NEB):c.195G>A (p.Pro65=)
|
rs79524813
|
0.01367
|
|
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)
|
rs56324595
|
0.01363
|
|
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn)
|
rs72955213
|
0.01357
|
|
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile)
|
rs16866457
|
0.01351
|
|
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val)
|
rs34070843
|
0.01345
|
|
NM_198271.5(LMOD3):c.1679C>T (p.Ala560Val)
|
rs17005363
|
0.01345
|
|
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val)
|
rs55948748
|
0.01336
|
|
NM_198271.5(LMOD3):c.1655C>A (p.Pro552His)
|
rs145387235
|
0.01335
|
|
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val)
|
rs11903206
|
0.01334
|
|
NM_001267550.2(TTN):c.37009C>T (p.Pro12337Ser)
|
rs201474544
|
0.01309
|
|
NM_001267550.2(TTN):c.2949C>T (p.Ile983=)
|
rs56310516
|
0.01308
|
|
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys)
|
rs72646869
|
0.01305
|
|
NM_017534.6(MYH2):c.5674-10T>C
|
rs16943488
|
0.01300
|
|
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)
|
rs16866475
|
0.01294
|
|
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)
|
rs55742743
|
0.01280
|
|
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr)
|
rs138884734
|
0.01280
|
|
NM_145064.3(STAC3):c.1086G>A (p.Glu362=)
|
rs61739642
|
0.01278
|
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
|
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=)
|
rs61730772
|
0.01264
|
|
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=)
|
rs16866467
|
0.01263
|
|
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val)
|
rs72647877
|
0.01259
|
|
NM_004370.6(COL12A1):c.8650-19T>A
|
rs79461746
|
0.01255
|
|
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys)
|
rs116676813
|
0.01242
|
|
NM_006063.3(KLHL41):c.1251A>G (p.Val417=)
|
rs79580851
|
0.01239
|
|
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=)
|
rs34555492
|
0.01234
|
|
NM_001458.5(FLNC):c.6004+19G>A
|
rs12530507
|
0.01231
|
|
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala)
|
rs35019869
|
0.01231
|
|
NM_001848.3(COL6A1):c.97+20G>A
|
rs114178849
|
0.01230
|
|
NM_001164508.2(NEB):c.3775-6T>C
|
rs80232472
|
0.01222
|
|
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser)
|
rs72629779
|
0.01213
|
|
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg)
|
rs55801134
|
0.01212
|
|
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)
|
rs112896869
|
0.01203
|
|
NM_001164508.2(NEB):c.23511G>A (p.Thr7837=)
|
rs35808744
|
0.01201
|
|
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=)
|
rs8132678
|
0.01197
|
|
NM_001267550.2(TTN):c.1003G>A (p.Val335Met)
|
rs72647846
|
0.01195
|
|
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser)
|
rs16830236
|
0.01192
|
|
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=)
|
rs55977045
|
0.01192
|
|
NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu)
|
rs72650053
|
0.01188
|
|
NM_001267550.2(TTN):c.11719C>G (p.Leu3907Val)
|
rs55853696
|
0.01185
|
|
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile)
|
rs72650028
|
0.01184
|
|
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=)
|
rs67041405
|
0.01183
|
|
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg)
|
rs17355460
|
0.01172
|
|
NM_001267550.2(TTN):c.1398+8C>T
|
rs72647848
|
0.01171
|
|
NM_001267550.2(TTN):c.100766-9C>T
|
rs77483833
|
0.01165
|
|
NM_001848.3(COL6A1):c.958-17G>A
|
rs79364611
|
0.01165
|
|
NM_004370.6(COL12A1):c.6848G>A (p.Gly2283Glu)
|
rs77094372
|
0.01163
|
|
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro)
|
rs62621206
|
0.01151
|
|
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)
|
rs55880440
|
0.01150
|
|
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=)
|
rs1042930
|
0.01149
|
|
NM_004369.4(COL6A3):c.768C>T (p.Val256=)
|
rs79606264
|
0.01148
|
|
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=)
|
rs114145817
|
0.01143
|
|
NM_001164508.2(NEB):c.8646C>T (p.Asp2882=)
|
rs61730773
|
0.01142
|
|
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=)
|
rs115493456
|
0.01140
|
|
NM_004370.6(COL12A1):c.6198A>C (p.Pro2066=)
|
rs34619869
|
0.01132
|
|
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)
|
rs72646809
|
0.01131
|
|
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile)
|
rs34368668
|
0.01129
|
|
NM_001848.3(COL6A1):c.645G>A (p.Ala215=)
|
rs115292913
|
0.01120
|
|
NM_001164508.2(NEB):c.3147+5G>A
|
rs74859201
|
0.01118
|
|
NM_001164508.2(NEB):c.5772C>T (p.Tyr1924=)
|
rs77547727
|
0.01117
|
|
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=)
|
rs72648935
|
0.01116
|
|
NM_004168.4(SDHA):c.822C>T (p.Gly274=)
|
rs34771391
|
0.01114
|
|
NM_017534.6(MYH2):c.2967A>G (p.Ala989=)
|
rs113190032
|
0.01110
|
|
NM_001164508.2(NEB):c.6717T>G (p.Ile2239Met)
|
rs78733601
|
0.01102
|
|
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)
|
rs77853750
|
0.01096
|
|
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)
|
rs55865284
|
0.01093
|
|
NM_152393.4(KLHL40):c.1251C>G (p.Val417=)
|
rs9872183
|
0.01087
|
|
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln)
|
rs61729839
|
0.01085
|
|
NM_001101362.3(KBTBD13):c.1197C>T (p.Arg399=)
|
rs150830358
|
0.01081
|
|
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)
|
rs66961115
|
0.01079
|
|
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)
|
rs36021856
|
0.01079
|
|
NM_001164508.2(NEB):c.5763+4C>T
|
rs78916288
|
0.01075
|
|
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)
|
rs56375087
|
0.01075
|
|
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)
|
rs55842557
|
0.01073
|
|
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln)
|
rs141930814
|
0.01071
|
|
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=)
|
rs72955212
|
0.01069
|
|
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr)
|
rs113155945
|
0.01061
|
|
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)
|
rs115852080
|
0.01060
|
|
NM_000036.3(AMPD1):c.1224+8G>A
|
rs140176911
|
0.01045
|
|
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=)
|
rs719202
|
0.01042
|
|
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=)
|
rs73036373
|
0.01031
|
|
NM_001458.5(FLNC):c.2266-14G>C
|
rs75612085
|
0.01030
|
|
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile)
|
rs72646850
|
0.01020
|
|
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr)
|
rs35139588
|
0.01019
|
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
|
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=)
|
rs34503558
|
0.01014
|
|
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met)
|
rs73038314
|
0.01013
|
|
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly)
|
rs72648951
|
0.01012
|
|
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg)
|
rs11553518
|
0.01008
|
|
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)
|
rs80272723
|
0.01000
|
|
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys)
|
rs61735835
|
0.00998
|
|
NM_001458.5(FLNC):c.4302C>T (p.Arg1434=)
|
rs114697352
|
0.00988
|
|
NM_006063.3(KLHL41):c.8C>T (p.Ser3Phe)
|
rs28730867
|
0.00983
|
|
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser)
|
rs141166141
|
0.00982
|
|
NM_001927.4(DES):c.1375G>A (p.Val459Ile)
|
rs73991549
|
0.00981
|
|
NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn)
|
rs34326474
|
0.00980
|
|
NM_001164508.2(NEB):c.8995-14T>C
|
rs79875240
|
0.00977
|
|
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=)
|
rs145252235
|
0.00972
|
|
NM_001843.4(CNTN1):c.2670A>T (p.Gly890=)
|
rs34346038
|
0.00972
|
|
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)
|
rs34819099
|
0.00971
|
|
NM_198271.5(LMOD3):c.252G>A (p.Met84Ile)
|
rs78574883
|
0.00968
|
|
NM_198271.5(LMOD3):c.253C>A (p.Leu85Met)
|
rs80113271
|
0.00968
|
|
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys)
|
rs12471771
|
0.00967
|
|
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=)
|
rs11896779
|
0.00966
|
|
NM_001164508.2(NEB):c.21519C>T (p.Ser7173=)
|
rs16830170
|
0.00961
|
|
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu)
|
rs45592139
|
0.00960
|
|
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp)
|
rs146917406
|
0.00958
|
|
NM_001267550.2(TTN):c.17741-9A>G
|
rs72648944
|
0.00958
|
|
NM_007078.3(LDB3):c.1506G>A (p.Pro502=)
|
rs45579241
|
0.00941
|
|
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys)
|
rs62167164
|
0.00935
|
|
NM_139343.3(BIN1):c.1263+11C>T
|
rs78967885
|
0.00935
|
|
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His)
|
rs140547835
|
0.00922
|
|
NM_001164508.2(NEB):c.8335A>G (p.Ile2779Val)
|
rs114853127
|
0.00920
|
|
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=)
|
rs62178963
|
0.00915
|
|
NM_001164508.2(NEB):c.11769T>C (p.Ile3923=)
|
rs80320923
|
0.00914
|
|
NM_001164508.2(NEB):c.19311C>T (p.Ser6437=)
|
rs16830216
|
0.00914
|
|
NM_001458.5(FLNC):c.4404= (p.Asp1468=)
|
rs2249128
|
0.00914
|
|
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu)
|
rs72629787
|
0.00909
|
|
NM_001100.4(ACTA1):c.453C>A (p.Thr151=)
|
rs76030344
|
0.00904
|
|
NM_004168.4(SDHA):c.549C>T (p.Gly183=)
|
rs61733344
|
0.00892
|
|
NM_004369.4(COL6A3):c.6156+4C>T
|
rs111228504
|
0.00884
|
|
NM_001164508.2(NEB):c.10338T>C (p.Asn3446=)
|
rs147569843
|
0.00870
|
|
NM_001164508.2(NEB):c.10344C>T (p.Asn3448=)
|
rs145052299
|
0.00870
|
|
NM_001164508.2(NEB):c.10347+6C>T
|
rs141088433
|
0.00870
|
|
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala)
|
rs34369939
|
0.00867
|
|
NM_001849.4(COL6A2):c.1672-12G>A
|
rs113857622
|
0.00860
|
|
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=)
|
rs140186806
|
0.00856
|
|
NM_001378030.1(CCDC78):c.712A>C (p.Lys238Gln)
|
rs142136104
|
0.00853
|
|
NM_001256545.2(MEGF10):c.609C>T (p.Cys203=)
|
rs113794264
|
0.00845
|
|
NM_001458.5(FLNC):c.2390-14C>T
|
rs71581921
|
0.00843
|
|
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=)
|
rs34422412
|
0.00842
|
|
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg)
|
rs138047593
|
0.00841
|
|
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)
|
rs115658240
|
0.00835
|
|
NM_001267550.2(TTN):c.33340+10T>C
|
rs72650039
|
0.00830
|
|
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys)
|
rs55861600
|
0.00828
|
|
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=)
|
rs72646893
|
0.00826
|
|
NM_001267550.2(TTN):c.79689C>A (p.Val26563=)
|
rs10185798
|
0.00826
|
|
NM_145064.3(STAC3):c.996+17A>T
|
rs150268069
|
0.00819
|
|
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)
|
rs34741387
|
0.00817
|
|
NM_198271.5(LMOD3):c.1144C>T (p.Pro382Ser)
|
rs74350755
|
0.00814
|
|
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)
|
rs55806007
|
0.00808
|
|
NM_001382567.1(STIM1):c.1634+319G>A
|
rs118128831
|
0.00808
|
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
|
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=)
|
rs56310931
|
0.00799
|
|
NM_198859.4(PRICKLE2):c.144+10T>C
|
rs74535153
|
0.00794
|
|
NM_001164508.2(NEB):c.24208-7C>T
|
rs113048349
|
0.00793
|
|
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr)
|
rs138787974
|
0.00778
|
|
NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=)
|
rs77425231
|
0.00776
|
|
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile)
|
rs117038107
|
0.00776
|
|
NM_001848.3(COL6A1):c.1316G>A (p.Arg439Gln)
|
rs35059000
|
0.00775
|
|
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His)
|
rs55886356
|
0.00774
|
|
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=)
|
rs74321406
|
0.00774
|
|
NM_145064.3(STAC3):c.570G>A (p.Lys190=)
|
rs76667525
|
0.00762
|
|
NM_145064.3(STAC3):c.604-8C>T
|
rs76823783
|
0.00762
|
|
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His)
|
rs59887778
|
0.00758
|
|
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=)
|
rs150612172
|
0.00757
|
|
NM_213720.3(CHCHD10):c.234G>A (p.Ser78=)
|
rs111527940
|
0.00755
|
|
NM_001267550.2(TTN):c.37722T>C (p.Val12574=)
|
rs377422414
|
0.00745
|
|
NM_017534.6(MYH2):c.183G>A (p.Thr61=)
|
rs142539913
|
0.00745
|
|
NM_001458.5(FLNC):c.3852C>T (p.Gly1284=)
|
rs111337293
|
0.00743
|
|
NM_001458.5(FLNC):c.4289-4A>C
|
rs140031589
|
0.00743
|
|
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile)
|
rs35707762
|
0.00734
|
|
NM_001101362.3(KBTBD13):c.246G>C (p.Val82=)
|
rs115182478
|
0.00729
|
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
|
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys)
|
rs146953558
|
0.00728
|
|
NM_004370.6(COL12A1):c.6210+13C>T
|
rs139520272
|
0.00723
|
|
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met)
|
rs77351975
|
0.00719
|
|
NM_001458.5(FLNC):c.6004+11G>A
|
rs117653869
|
0.00719
|
|
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln)
|
rs72646851
|
0.00718
|
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
|
NM_001164508.2(NEB):c.2832C>T (p.Ser944=)
|
rs114076205
|
0.00714
|
|
NM_001848.3(COL6A1):c.1612-10G>A
|
rs141892165
|
0.00714
|
|
NM_004369.4(COL6A3):c.1791C>T (p.Phe597=)
|
rs76576170
|
0.00714
|
|
NM_001848.3(COL6A1):c.1823-8G>A
|
rs184666690
|
0.00711
|
|
NM_001267550.2(TTN):c.50551+20C>T
|
rs67636125
|
0.00708
|
|
NM_001843.4(CNTN1):c.90T>C (p.His30=)
|
rs61748365
|
0.00707
|
|
NM_001848.3(COL6A1):c.1182+20C>T
|
rs7275706
|
0.00705
|
|
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=)
|
rs72646832
|
0.00703
|
|
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser)
|
rs35273032
|
0.00703
|
|
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=)
|
rs72648979
|
0.00702
|
|
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys)
|
rs72646833
|
0.00702
|
|
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)
|
rs17452588
|
0.00701
|
|
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu)
|
rs72648976
|
0.00701
|
|
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=)
|
rs72648977
|
0.00701
|
|
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn)
|
rs17354992
|
0.00698
|
|
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=)
|
rs12474306
|
0.00697
|
|
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=)
|
rs72646827
|
0.00697
|
|
NM_001267550.2(TTN):c.32722+9G>A
|
rs148231130
|
0.00695
|
|
NM_001927.4(DES):c.735+20C>T
|
rs151226355
|
0.00694
|
|
NM_006063.3(KLHL41):c.1441A>G (p.Met481Val)
|
rs34623017
|
0.00692
|
|
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=)
|
rs16866423
|
0.00691
|
|
NM_000252.3(MTM1):c.1260+17A>G
|
rs185258809
|
0.00687
|
|
NM_000036.3(AMPD1):c.243T>G (p.Thr81=)
|
rs115655141
|
0.00686
|
|
NM_001267550.2(TTN):c.45083-10A>G
|
rs72677222
|
0.00683
|
|
NM_000036.3(AMPD1):c.1464G>A (p.Glu488=)
|
rs80266556
|
0.00682
|
|
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=)
|
rs77257306
|
0.00682
|
|
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys)
|
rs187343008
|
0.00681
|
|
NM_001848.3(COL6A1):c.3054C>T (p.His1018=)
|
rs141237809
|
0.00680
|
|
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)
|
rs72648937
|
0.00675
|
|
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile)
|
rs184262608
|
0.00672
|
|
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=)
|
rs114908705
|
0.00671
|
|
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=)
|
rs76815324
|
0.00667
|
|
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=)
|
rs72648258
|
0.00667
|
|
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)
|
rs72648960
|
0.00666
|
|
NM_000183.3(HADHB):c.830A>G (p.Lys277Arg)
|
rs57969630
|
0.00662
|
|
NM_000183.3(HADHB):c.780C>T (p.Leu260=)
|
rs7607527
|
0.00660
|
|
NM_000183.3(HADHB):c.891C>T (p.Ile297=)
|
rs56902571
|
0.00660
|
|
NM_000036.3(AMPD1):c.552T>C (p.Phe184=)
|
rs35197706
|
0.00657
|
|
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=)
|
rs34562585
|
0.00654
|
|
NM_000252.3(MTM1):c.136+17A>G
|
rs142891103
|
0.00648
|
|
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly)
|
rs76767949
|
0.00646
|
|
NM_001849.4(COL6A2):c.2856G>A (p.Thr952=)
|
rs138074469
|
0.00644
|
|
NM_001267550.2(TTN):c.53288-18G>T
|
rs72646810
|
0.00643
|
|
NM_001101362.3(KBTBD13):c.1363A>G (p.Thr455Ala)
|
rs116406369
|
0.00642
|
|
NM_152393.4(KLHL40):c.1104C>T (p.Phe368=)
|
rs147863385
|
0.00642
|
|
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)
|
rs28626194
|
0.00641
|
|
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)
|
rs72677242
|
0.00641
|
|
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)
|
rs115744476
|
0.00640
|
|
NM_001458.5(FLNC):c.352+10G>A
|
rs79489893
|
0.00639
|
|
NM_003283.6(TNNT1):c.795G>T (p.Arg265=)
|
rs890868
|
0.00639
|
|
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=)
|
rs76771282
|
0.00636
|
|
NM_003283.6(TNNT1):c.310-14T>C
|
rs115663668
|
0.00636
|
|
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly)
|
rs146983095
|
0.00634
|
|
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln)
|
rs61735828
|
0.00627
|
|
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)
|
rs72648244
|
0.00625
|
|
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)
|
rs56181243
|
0.00615
|
|
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)
|
rs56273463
|
0.00613
|
|
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe)
|
rs34618570
|
0.00613
|
|
NM_004369.4(COL6A3):c.4285+9G>A
|
rs75780727
|
0.00613
|
|
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His)
|
rs185002960
|
0.00608
|
|
NM_001267550.2(TTN):c.30683-2A>T
|
rs886043892
|
0.00604
|
|
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp)
|
rs73998894
|
0.00603
|
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
|
NM_001267550.2(TTN):c.45350-13T>C
|
rs113084617
|
0.00600
|
|
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)
|
rs114026724
|
0.00598
|
|
NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp)
|
rs113231696
|
0.00597
|
|
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg)
|
rs139415849
|
0.00597
|
|
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
|
rs187964306
|
0.00596
|
|
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr)
|
rs62000429
|
0.00596
|
|
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser)
|
rs16866477
|
0.00593
|
|
NM_001849.4(COL6A2):c.2769C>T (p.His923=)
|
rs140419176
|
0.00591
|
|
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=)
|
rs115070904
|
0.00590
|
|
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu)
|
rs116307796
|
0.00586
|
|
NM_004168.4(SDHA):c.312+20C>T
|
rs111533078
|
0.00586
|
|
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr)
|
rs72648946
|
0.00585
|
|
NM_000182.5(HADHA):c.573+8dup
|
rs112196218
|
0.00584
|
|
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn)
|
rs121908338
|
0.00584
|
|
NM_001843.4(CNTN1):c.207C>T (p.Ala69=)
|
rs7297132
|
0.00583
|
|
NM_001256545.2(MEGF10):c.1046G>A (p.Arg349His)
|
rs78847357
|
0.00577
|
|
NM_001256545.2(MEGF10):c.489C>T (p.Ile163=)
|
rs34649270
|
0.00577
|
|
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu)
|
rs33971253
|
0.00570
|
|
NM_001848.3(COL6A1):c.739-18C>T
|
rs144843800
|
0.00561
|
|
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=)
|
rs113391261
|
0.00559
|
|
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)
|
rs56345408
|
0.00559
|
|
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met)
|
rs73973147
|
0.00558
|
|
NM_000036.3(AMPD1):c.1947T>C (p.Asp649=)
|
rs34287100
|
0.00557
|
|
NM_001382567.1(STIM1):c.861C>T (p.Arg287=)
|
rs16929446
|
0.00556
|
|
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)
|
rs72646885
|
0.00553
|
|
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr)
|
rs56128843
|
0.00552
|
|
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His)
|
rs34532796
|
0.00550
|
|
NM_004369.4(COL6A3):c.6105G>A (p.Lys2035=)
|
rs35556524
|
0.00550
|
|
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=)
|
rs35114079
|
0.00549
|
|
NM_017534.6(MYH2):c.2382C>A (p.Thr794=)
|
rs76400103
|
0.00548
|
|
NM_017534.6(MYH2):c.4242C>T (p.Asn1414=)
|
rs146615128
|
0.00548
|
|
NM_001164508.2(NEB):c.5802C>T (p.Gly1934=)
|
rs139963368
|
0.00547
|
|
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)
|
rs56404770
|
0.00546
|
|
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=)
|
rs72650003
|
0.00545
|
|
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)
|
rs72650031
|
0.00544
|
|
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)
|
rs181067717
|
0.00536
|
|
NM_001267550.2(TTN):c.42024+6T>C
|
rs140002940
|
0.00535
|
|
NM_001267550.2(TTN):c.39709+6C>T
|
rs72650067
|
0.00533
|
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
|
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)
|
rs45447891
|
0.00530
|
|
NM_145064.3(STAC3):c.1023G>C (p.Ala341=)
|
rs61747067
|
0.00529
|
|
NM_001164508.2(NEB):c.17304G>A (p.Leu5768=)
|
rs35273905
|
0.00526
|
|
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His)
|
rs72677237
|
0.00519
|
|
NM_001164508.2(NEB):c.17049G>T (p.Ala5683=)
|
rs140688592
|
0.00517
|
|
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His)
|
rs56044609
|
0.00516
|
|
NM_198271.5(LMOD3):c.1313A>T (p.Lys438Met)
|
rs6810145
|
0.00516
|
|
NM_198271.5(LMOD3):c.1493G>A (p.Arg498Gln)
|
rs116440123
|
0.00513
|
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
|
NM_004370.6(COL12A1):c.2481G>A (p.Thr827=)
|
rs35170847
|
0.00506
|
|
NM_152263.4(TPM3):c.566+18C>G
|
rs111368844
|
0.00505
|
|
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)
|
rs149001703
|
0.00504
|
|
NM_001378030.1(CCDC78):c.803C>T (p.Thr268Met)
|
rs77707419
|
0.00503
|
|
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His)
|
rs112010940
|
0.00503
|
|
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser)
|
rs113897824
|
0.00503
|
|
NM_001267550.2(TTN):c.38323C>T (p.Leu12775Phe)
|
rs186232617
|
0.00502
|
|
NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=)
|
rs35292916
|
0.00501
|
|
NM_004370.6(COL12A1):c.4917C>T (p.Asp1639=)
|
rs80102965
|
0.00499
|
|
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)
|
rs76081119
|
0.00498
|
|
NM_139343.3(BIN1):c.1132-7T>C
|
rs115938552
|
0.00498
|
|
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser)
|
rs144922355
|
0.00496
|
|
NM_006063.3(KLHL41):c.15G>A (p.Arg5=)
|
rs144048872
|
0.00495
|
|
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)
|
rs72648984
|
0.00493
|
|
NM_001256545.2(MEGF10):c.2757C>T (p.Asn919=)
|
rs36061366
|
0.00492
|
|
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)
|
rs114626713
|
0.00491
|
|
NM_001848.3(COL6A1):c.777G>A (p.Pro259=)
|
rs61735854
|
0.00491
|
|
NM_001848.3(COL6A1):c.579C>T (p.Pro193=)
|
rs61751027
|
0.00488
|
|
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)
|
rs41266761
|
0.00484
|
|
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=)
|
rs79313758
|
0.00483
|
|
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val)
|
rs111595697
|
0.00482
|
|
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=)
|
rs11904444
|
0.00481
|
|
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)
|
rs116567963
|
0.00481
|
|
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)
|
rs117931394
|
0.00474
|
|
NM_001267550.2(TTN):c.12233C>T (p.Thr4078Ile)
|
rs80136515
|
0.00471
|
|
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)
|
rs72648942
|
0.00471
|
|
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)
|
rs72646857
|
0.00468
|
|
NM_001378030.1(CCDC78):c.889C>T (p.Arg297Cys)
|
rs61998220
|
0.00468
|
|
NM_017534.6(MYH2):c.4329C>T (p.Ala1443=)
|
rs61739663
|
0.00465
|
|
NM_001267550.2(TTN):c.33742+11A>G
|
rs72650042
|
0.00463
|
|
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val)
|
rs72650029
|
0.00461
|
|
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser)
|
rs75639119
|
0.00460
|
|
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys)
|
rs201487340
|
0.00458
|
|
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile)
|
rs143872329
|
0.00456
|
|
NM_000182.5(HADHA):c.1981C>T (p.Leu661=)
|
rs142348718
|
0.00450
|
|
NM_007078.3(LDB3):c.1014A>G (p.Thr338=)
|
rs150209221
|
0.00450
|
|
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)
|
rs141338915
|
0.00448
|
|
NM_001267550.2(TTN):c.101697C>T (p.Asp33899=)
|
rs114267234
|
0.00446
|
|
NM_004369.4(COL6A3):c.3456C>T (p.Ser1152=)
|
rs112815265
|
0.00444
|
|
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln)
|
rs34161789
|
0.00444
|
|
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val)
|
rs78269740
|
0.00443
|
|
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=)
|
rs149639365
|
0.00441
|
|
NM_004281.4(BAG3):c.231G>A (p.Pro77=)
|
rs143752613
|
0.00441
|
|
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln)
|
rs111231885
|
0.00438
|
|
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr)
|
rs12998234
|
0.00437
|
|
NM_001164508.2(NEB):c.24264G>A (p.Met8088Ile)
|
rs144709880
|
0.00436
|
|
NM_001164508.2(NEB):c.2640C>T (p.Arg880=)
|
rs114959904
|
0.00433
|
|
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)
|
rs114750216
|
0.00432
|
|
NM_004369.4(COL6A3):c.9069C>T (p.Thr3023=)
|
rs111234422
|
0.00431
|
|
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)
|
rs182847302
|
0.00430
|
|
NM_004168.4(SDHA):c.969C>T (p.Gly323=)
|
rs142849100
|
0.00430
|
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
|
NM_001164508.2(NEB):c.1856A>G (p.Lys619Arg)
|
rs147305883
|
0.00426
|
|
NM_001382567.1(STIM1):c.1239-13C>T
|
rs115353673
|
0.00426
|
|
NM_001382567.1(STIM1):c.1302G>A (p.Glu434=)
|
rs116837894
|
0.00426
|
|
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=)
|
rs116343553
|
0.00426
|
|
NM_004369.4(COL6A3):c.8735C>T (p.Pro2912Leu)
|
rs112928650
|
0.00421
|
|
NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=)
|
rs34830422
|
0.00420
|
|
NM_213720.3(CHCHD10):c.136G>T (p.Ala46Ser)
|
rs200831077
|
0.00420
|
|
NM_000036.3(AMPD1):c.1845C>T (p.Ile615=)
|
rs34257411
|
0.00419
|
|
NM_001267550.2(TTN):c.25008C>T (p.Cys8336=)
|
rs116378128
|
0.00419
|
|
NM_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala)
|
rs77654847
|
0.00419
|
|
NM_000036.3(AMPD1):c.1911C>T (p.Phe637=)
|
rs34778674
|
0.00417
|
|
NM_001458.5(FLNC):c.1902G>A (p.Glu634=)
|
rs12536635
|
0.00414
|
|
NM_000182.5(HADHA):c.1690-6G>A
|
rs111662358
|
0.00412
|
|
NM_000182.5(HADHA):c.2146+16T>C
|
rs145930159
|
0.00408
|
|
NM_007078.3(LDB3):c.352G>A (p.Val118Met)
|
rs35507268
|
0.00408
|
|
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala)
|
rs116592778
|
0.00406
|
|
NM_001267550.2(TTN):c.13706G>A (p.Ser4569Asn)
|
rs115532048
|
0.00405
|
|
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)
|
rs72647894
|
0.00404
|
|
NM_000182.5(HADHA):c.68-10T>G
|
rs144414842
|
0.00403
|
|
NM_001458.5(FLNC):c.1549+15C>A
|
rs181134489
|
0.00403
|
|
NM_139343.3(BIN1):c.888C>T (p.Ser296=)
|
rs114833236
|
0.00403
|
|
NM_032790.4(ORAI1):c.132A>G (p.Pro44=)
|
rs554617167
|
0.00402
|
|
NM_001848.3(COL6A1):c.1335+20G>C
|
rs9306146
|
0.00401
|
|
NM_001164508.2(NEB):c.11077-20_11077-19insC
|
rs1553905611
|
0.00400
|
|
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)
|
rs56169243
|
0.00400
|
|
NM_001100.4(ACTA1):c.617-5C>T
|
rs199804338
|
0.00399
|
|
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met)
|
rs66839174
|
0.00398
|
|
NM_001843.4(CNTN1):c.2493T>C (p.His831=)
|
rs61754102
|
0.00396
|
|
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val)
|
rs113716915
|
0.00396
|
|
NM_001164508.2(NEB):c.1981C>T (p.Leu661=)
|
rs146460133
|
0.00395
|
|
NM_004369.4(COL6A3):c.709+11C>T
|
rs111660070
|
0.00395
|
|
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg)
|
rs73967567
|
0.00393
|
|
NM_004369.4(COL6A3):c.4285+17G>A
|
rs3791000
|
0.00392
|
|
NM_004369.4(COL6A3):c.4683G>A (p.Gln1561=)
|
rs113074898
|
0.00392
|
|
NM_152393.4(KLHL40):c.1540G>A (p.Val514Met)
|
rs146266900
|
0.00391
|
|
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His)
|
rs35227432
|
0.00389
|
|
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile)
|
rs111859552
|
0.00388
|
|
NM_004369.4(COL6A3):c.8745G>A (p.Ala2915=)
|
rs112382351
|
0.00388
|
|
NM_004369.4(COL6A3):c.6211-3C>T
|
rs139622600
|
0.00387
|
|
NM_004168.4(SDHA):c.456+20G>C
|
rs193283468
|
0.00385
|
|
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile)
|
rs61752478
|
0.00384
|
|
NM_198271.5(LMOD3):c.1257G>C (p.Met419Ile)
|
rs75713718
|
0.00383
|
|
NM_006790.3(MYOT):c.1008G>T (p.Val336=)
|
rs142828368
|
0.00381
|
|
NM_032790.4(ORAI1):c.135_136insT (p.Pro46Serfs)
|
rs375895928
|
0.00381
|
|
NM_001164508.2(NEB):c.6166A>G (p.Arg2056Gly)
|
rs115350357
|
0.00379
|
|
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met)
|
rs146590898
|
0.00379
|
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
|
NM_017534.6(MYH2):c.4989G>A (p.Leu1663=)
|
rs61736461
|
0.00375
|
|
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)
|
rs141856116
|
0.00372
|
|
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)
|
rs55980498
|
0.00372
|
|
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=)
|
rs35902788
|
0.00370
|
|
NM_007078.3(LDB3):c.1263G>A (p.Gly421=)
|
rs139834701
|
0.00369
|
|
NM_001267550.2(TTN):c.10854A>C (p.Gln3618His)
|
rs79466278
|
0.00365
|
|
NM_001849.4(COL6A2):c.2886C>T (p.His962=)
|
rs115970356
|
0.00365
|
|
NM_001267550.2(TTN):c.66160+16G>A
|
rs149714835
|
0.00364
|
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
|
NM_001164508.2(NEB):c.1413C>T (p.Phe471=)
|
rs112958786
|
0.00363
|
|
NM_004369.4(COL6A3):c.6972C>T (p.Asn2324=)
|
rs113961575
|
0.00363
|
|
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr)
|
rs182428755
|
0.00362
|
|
NM_001164508.2(NEB):c.612+15C>T
|
rs112288851
|
0.00360
|
|
NM_004369.4(COL6A3):c.1638C>T (p.Ala546=)
|
rs112040282
|
0.00360
|
|
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)
|
rs34924609
|
0.00359
|
|
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=)
|
rs115631125
|
0.00354
|
|
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)
|
rs72648964
|
0.00354
|
|
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=)
|
rs113066678
|
0.00353
|
|
NM_001164508.2(NEB):c.22904G>A (p.Gly7635Glu)
|
rs3732309
|
0.00351
|
|
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp)
|
rs61731155
|
0.00349
|
|
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=)
|
rs115163637
|
0.00349
|
|
NM_004370.6(COL12A1):c.4000+5G>A
|
rs181257320
|
0.00349
|
|
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala)
|
rs117271684
|
0.00348
|
|
NM_004370.6(COL12A1):c.3651C>T (p.Thr1217=)
|
rs140319205
|
0.00348
|
|
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=)
|
rs114554195
|
0.00347
|
|
NM_004370.6(COL12A1):c.4335A>G (p.Lys1445=)
|
rs113549828
|
0.00347
|
|
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp)
|
rs117048449
|
0.00346
|
|
NM_001164508.2(NEB):c.1257+13A>T
|
rs75320668
|
0.00345
|
|
NM_004281.4(BAG3):c.249C>A (p.His83Gln)
|
rs151331972
|
0.00344
|
|
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=)
|
rs56151652
|
0.00343
|
|
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)
|
rs146181116
|
0.00343
|
|
NM_001849.4(COL6A2):c.510C>T (p.Cys170=)
|
rs142328765
|
0.00343
|
|
NM_004281.4(BAG3):c.606G>T (p.Pro202=)
|
rs74157690
|
0.00341
|
|
NM_000252.3(MTM1):c.64-14T>C
|
rs184956219
|
0.00340
|
|
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=)
|
rs35911211
|
0.00339
|
|
NM_001378030.1(CCDC78):c.267+11G>A
|
rs78103693
|
0.00338
|
|
NM_000252.3(MTM1):c.136+9C>T
|
rs191553188
|
0.00337
|
|
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)
|
rs144180493
|
0.00336
|
|
NM_001843.4(CNTN1):c.986-16del
|
rs113450310
|
0.00335
|
|
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu)
|
rs192402741
|
0.00334
|
|
NM_001267550.2(TTN):c.10114+5G>A
|
rs115985443
|
0.00334
|
|
NM_001267550.2(TTN):c.10931G>A (p.Ser3644Asn)
|
rs78535378
|
0.00334
|
|
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=)
|
rs144376972
|
0.00333
|
|
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr)
|
rs72648923
|
0.00332
|
|
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg)
|
rs143253411
|
0.00332
|
|
NM_004281.4(BAG3):c.187C>G (p.Pro63Ala)
|
rs144041999
|
0.00328
|
|
NM_001164508.2(NEB):c.3826C>A (p.Pro1276Thr)
|
rs34234609
|
0.00327
|
|
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser)
|
rs144692954
|
0.00327
|
|
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=)
|
rs72647886
|
0.00326
|
|
NM_001164508.2(NEB):c.1675-9T>G
|
rs75118047
|
0.00324
|
|
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln)
|
rs201840554
|
0.00323
|
|
NM_001382567.1(STIM1):c.1931C>A (p.Ser644Tyr)
|
rs35637264
|
0.00323
|
|
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)
|
rs72646891
|
0.00322
|
|
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys)
|
rs146310692
|
0.00320
|
|
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)
|
rs140003804
|
0.00317
|
|
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro)
|
rs72650032
|
0.00317
|
|
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)
|
rs55762754
|
0.00317
|
|
NM_004281.4(BAG3):c.181-9T>A
|
rs139232658
|
0.00317
|
|
NM_017534.6(MYH2):c.2295G>A (p.Gly765=)
|
rs79757188
|
0.00317
|
|
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)
|
rs141624266
|
0.00316
|
|
NM_001368067.1(LDB3):c.546T>C (p.Ser182=)
|
rs71473272
|
0.00316
|
|
NM_001267550.2(TTN):c.25921+20G>A
|
rs148460010
|
0.00315
|
|
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)
|
rs75120695
|
0.00315
|
|
NM_001267550.2(TTN):c.31847-17A>G
|
rs72650025
|
0.00313
|
|
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=)
|
rs35134265
|
0.00313
|
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
|
NM_007078.3(LDB3):c.147G>A (p.Val49=)
|
rs45591834
|
0.00312
|
|
NM_006790.3(MYOT):c.1190+7T>C
|
rs192405601
|
0.00311
|
|
NM_000036.3(AMPD1):c.99A>G (p.Gly33=)
|
rs61752480
|
0.00310
|
|
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=)
|
rs74324101
|
0.00310
|
|
NM_001848.3(COL6A1):c.1182+3G>A
|
rs62215499
|
0.00310
|
|
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu)
|
rs73973137
|
0.00308
|
|
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly)
|
rs72648931
|
0.00307
|
|
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln)
|
rs112638391
|
0.00306
|
|
NM_001101362.3(KBTBD13):c.89G>A (p.Gly30Asp)
|
rs138484272
|
0.00305
|
|
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=)
|
rs147524531
|
0.00301
|
|
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)
|
rs141973925
|
0.00301
|
|
NM_001848.3(COL6A1):c.2067-10T>C
|
rs200727020
|
0.00299
|
|
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser)
|
rs115957676
|
0.00299
|
|
NM_001458.5(FLNC):c.1425C>T (p.Asn475=)
|
rs143610360
|
0.00297
|
|
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala)
|
rs34972246
|
0.00297
|
|
NM_001848.3(COL6A1):c.1612-6C>T
|
rs143812383
|
0.00296
|
|
NM_001267550.2(TTN):c.2765G>A (p.Arg922His)
|
rs56046320
|
0.00295
|
|
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)
|
rs73038337
|
0.00293
|
|
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg)
|
rs72647870
|
0.00293
|
|
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu)
|
rs35292878
|
0.00292
|
|
NM_003283.6(TNNT1):c.279A>G (p.Glu93=)
|
rs34313388
|
0.00292
|
|
NM_007078.3(LDB3):c.163G>A (p.Val55Ile)
|
rs3740343
|
0.00292
|
|
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr)
|
rs200502811
|
0.00291
|
|
NM_001267550.2(TTN):c.69716-5C>G
|
rs72646886
|
0.00290
|
|
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu)
|
rs72648256
|
0.00290
|
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
|
NM_007078.3(LDB3):c.2016C>T (p.Cys672=)
|
rs45578640
|
0.00288
|
|
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)
|
rs72677233
|
0.00287
|
|
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)
|
rs75031300
|
0.00287
|
|
NM_001164508.2(NEB):c.18861C>T (p.Arg6287=)
|
rs146294986
|
0.00286
|
|
NM_001458.5(FLNC):c.4928-7T>C
|
rs201957008
|
0.00286
|
|
NM_001267550.2(TTN):c.38336T>C (p.Val12779Ala)
|
rs2099130
|
0.00284
|
|
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=)
|
rs61737781
|
0.00283
|
|
NM_002469.3(MYF6):c.544A>C (p.Thr182Pro)
|
rs141278987
|
0.00283
|
|
NM_004370.6(COL12A1):c.5874A>G (p.Pro1958=)
|
rs186035636
|
0.00283
|
|
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)
|
rs181104321
|
0.00282
|
|
NM_001458.5(FLNC):c.7780+10A>G
|
rs201149834
|
0.00281
|
|
NM_001164508.2(NEB):c.24056C>T (p.Pro8019Leu)
|
rs189655274
|
0.00280
|
|
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=)
|
rs115511838
|
0.00278
|
|
NM_004370.6(COL12A1):c.6068-14T>A
|
rs189714891
|
0.00278
|
|
NM_001164508.2(NEB):c.5032-15T>C
|
rs201180226
|
0.00277
|
|
NM_001843.4(CNTN1):c.497-17G>T
|
rs142799954
|
0.00276
|
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00274
|
|
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)
|
rs72648994
|
0.00274
|
|
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)
|
rs72646840
|
0.00274
|
|
NM_001378030.1(CCDC78):c.60T>C (p.Asn20=)
|
rs73489339
|
0.00274
|
|
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly)
|
rs72648980
|
0.00273
|
|
NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=)
|
rs113542401
|
0.00272
|
|
NM_017534.6(MYH2):c.687A>G (p.Leu229=)
|
rs145014502
|
0.00270
|
|
NM_020451.3(SELENON):c.1645G>A (p.Val549Met)
|
rs147131452
|
0.00268
|
|
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)
|
rs146608896
|
0.00267
|
|
NM_001382567.1(STIM1):c.1604C>T (p.Thr535Met)
|
rs146873551
|
0.00267
|
|
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=)
|
rs115387170
|
0.00267
|
|
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=)
|
rs140350441
|
0.00265
|
|
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser)
|
rs72647845
|
0.00265
|
|
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val)
|
rs116729313
|
0.00265
|
|
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg)
|
rs72646823
|
0.00264
|
|
NM_001378030.1(CCDC78):c.781G>A (p.Ala261Thr)
|
rs186738044
|
0.00264
|
|
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser)
|
rs149075285
|
0.00263
|
|
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
|
rs72648949
|
0.00262
|
|
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)
|
rs77968867
|
0.00262
|
|
NM_004370.6(COL12A1):c.2965G>A (p.Gly989Arg)
|
rs139332405
|
0.00262
|
|
NM_001164508.2(NEB):c.13081G>A (p.Glu4361Lys)
|
rs202017360
|
0.00261
|
|
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=)
|
rs72647878
|
0.00261
|
|
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg)
|
rs181717727
|
0.00261
|
|
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)
|
rs80207011
|
0.00261
|
|
NM_004370.6(COL12A1):c.8582G>A (p.Ser2861Asn)
|
rs148065232
|
0.00261
|
|
NM_001256545.2(MEGF10):c.303C>T (p.Ser101=)
|
rs77203884
|
0.00260
|
|
NM_004369.4(COL6A3):c.8458G>A (p.Val2820Ile)
|
rs115171119
|
0.00260
|
|
NM_004168.4(SDHA):c.1413C>T (p.Ile471=)
|
rs34779890
|
0.00259
|
|
NM_152393.4(KLHL40):c.1313+7A>G
|
rs185171192
|
0.00259
|
|
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)
|
rs72646890
|
0.00258
|
|
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=)
|
rs61735830
|
0.00258
|
|
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile)
|
rs139798654
|
0.00257
|
|
NM_001256545.2(MEGF10):c.218+17C>G
|
rs72786483
|
0.00257
|
|
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln)
|
rs187270666
|
0.00255
|
|
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val)
|
rs139506970
|
0.00255
|
|
NM_001256545.2(MEGF10):c.1002C>T (p.His334=)
|
rs142947482
|
0.00254
|
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
|
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)
|
rs72646882
|
0.00252
|
|
NM_001458.5(FLNC):c.4737+15A>G
|
rs182734223
|
0.00252
|
|
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=)
|
rs147219060
|
0.00252
|
|
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=)
|
rs139223781
|
0.00251
|
|
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr)
|
rs55660660
|
0.00251
|
|
NM_001164508.2(NEB):c.19944+3G>A
|
rs115142419
|
0.00250
|
|
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala)
|
rs188370772
|
0.00250
|
|
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)
|
rs72650077
|
0.00247
|
|
NM_001101362.3(KBTBD13):c.954C>G (p.Thr318=)
|
rs368781046
|
0.00246
|
|
NM_001164508.2(NEB):c.2523+20C>G
|
rs186473611
|
0.00245
|
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
|
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)
|
rs151266052
|
0.00245
|
|
NM_001164508.2(NEB):c.20682+13G>A
|
rs189918704
|
0.00244
|
|
NM_001256545.2(MEGF10):c.1500G>A (p.Gln500=)
|
rs146075981
|
0.00243
|
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
|
NM_004370.6(COL12A1):c.4691-12G>A
|
rs146472530
|
0.00243
|
|
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=)
|
rs142074817
|
0.00242
|
|
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn)
|
rs28562813
|
0.00242
|
|
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=)
|
rs142812510
|
0.00240
|
|
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro)
|
rs199742668
|
0.00240
|
|
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr)
|
rs61756328
|
0.00239
|
|
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln)
|
rs201176993
|
0.00238
|
|
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)
|
rs72629785
|
0.00238
|
|
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu)
|
rs200350579
|
0.00238
|
|
NM_001164508.2(NEB):c.18653G>A (p.Gly6218Asp)
|
rs34471889
|
0.00237
|
|
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser)
|
rs551521196
|
0.00237
|
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
|
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=)
|
rs368168812
|
0.00235
|
|
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)
|
rs116604145
|
0.00235
|
|
NM_004168.4(SDHA):c.313-19G>T
|
rs185555941
|
0.00235
|
|
NM_001267550.2(TTN):c.96108G>A (p.Val32036=)
|
rs372773283
|
0.00234
|
|
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln)
|
rs36062562
|
0.00234
|
|
NM_017534.6(MYH2):c.4860C>G (p.Leu1620=)
|
rs148538539
|
0.00234
|
|
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)
|
rs72648953
|
0.00233
|
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
|
NM_139343.3(BIN1):c.1131+18C>T
|
rs191760397
|
0.00233
|
|
NM_001256545.2(MEGF10):c.2463C>T (p.Pro821=)
|
rs139929890
|
0.00229
|
|
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
|
NM_001849.4(COL6A2):c.1161C>T (p.Ile387=)
|
rs140027285
|
0.00229
|
|
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)
|
rs55847238
|
0.00228
|
|
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=)
|
rs144455095
|
0.00228
|
|
NM_001256545.2(MEGF10):c.2654G>A (p.Gly885Glu)
|
rs116500162
|
0.00227
|
|
NM_213720.3(CHCHD10):c.330G>A (p.Leu110=)
|
rs138183274
|
0.00227
|
|
NM_001164508.2(NEB):c.6615C>G (p.Arg2205=)
|
rs200018782
|
0.00226
|
|
NM_001164508.2(NEB):c.675G>A (p.Pro225=)
|
rs138528093
|
0.00225
|
|
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met)
|
rs201554140
|
0.00225
|
|
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu)
|
rs111803773
|
0.00225
|
|
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)
|
rs142586585
|
0.00225
|
|
NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=)
|
rs199526404
|
0.00224
|
|
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val)
|
rs200840285
|
0.00224
|
|
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser)
|
rs141517088
|
0.00224
|
|
NM_001101362.3(KBTBD13):c.115G>C (p.Gly39Arg)
|
rs201420126
|
0.00223
|
|
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser)
|
rs72648925
|
0.00223
|
|
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=)
|
rs55696153
|
0.00223
|
|
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe)
|
rs138576504
|
0.00222
|
|
NM_139343.3(BIN1):c.858-5C>T
|
rs75328896
|
0.00222
|
|
NM_017534.6(MYH2):c.2698-8A>C
|
rs186620412
|
0.00221
|
|
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly)
|
rs112913396
|
0.00220
|
|
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr)
|
rs138506461
|
0.00219
|
|
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)
|
rs114711705
|
0.00218
|
|
NM_001164508.2(NEB):c.13369-13T>C
|
rs1289487534
|
0.00217
|
|
NM_001164508.2(NEB):c.3348C>T (p.Asn1116=)
|
rs149162847
|
0.00217
|
|
NM_001267550.2(TTN):c.1398+18A>G
|
rs72647849
|
0.00217
|
|
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00216
|
|
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=)
|
rs79232842
|
0.00215
|
|
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)
|
rs200513156
|
0.00215
|
|
NM_001267550.2(TTN):c.70761G>T (p.Gly23587=)
|
rs190149868
|
0.00215
|
|
NM_001843.4(CNTN1):c.1401T>C (p.Gly467=)
|
rs61759480
|
0.00215
|
|
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val)
|
rs190209925
|
0.00214
|
|
NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met)
|
rs114061998
|
0.00214
|
|
NM_001843.4(CNTN1):c.1251G>T (p.Met417Ile)
|
rs145510600
|
0.00213
|
|
NM_001267550.2(TTN):c.1068G>A (p.Glu356=)
|
rs144716589
|
0.00212
|
|
NM_001378030.1(CCDC78):c.966C>A (p.Asn322Lys)
|
rs148595483
|
0.00212
|
|
NM_001382567.1(STIM1):c.1896C>G (p.Pro632=)
|
rs61743670
|
0.00212
|
|
NM_001458.5(FLNC):c.2889G>A (p.Pro963=)
|
rs191892345
|
0.00212
|
|
NM_001849.4(COL6A2):c.1671+9C>T
|
rs186428044
|
0.00210
|
|
NM_004370.6(COL12A1):c.1892-7T>A
|
rs779185109
|
0.00210
|
|
NM_001164508.2(NEB):c.13779A>G (p.Leu4593=)
|
rs1057522591
|
0.00209
|
|
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=)
|
rs138240658
|
0.00209
|
|
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)
|
rs35859650
|
0.00208
|
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
|
NM_001267550.2(TTN):c.289G>A (p.Val97Met)
|
rs185921345
|
0.00208
|
|
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala)
|
rs182491843
|
0.00208
|
|
NM_001256545.2(MEGF10):c.3003C>T (p.Ser1001=)
|
rs35159176
|
0.00207
|
|
NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln)
|
rs199652368
|
0.00207
|
|
NM_001849.4(COL6A2):c.1333-10C>G
|
rs199513044
|
0.00207
|
|
NM_000116.5(TAFAZZIN):c.646+14C>T
|
rs191527230
|
0.00206
|
|
NM_001164508.2(NEB):c.20466+11A>G
|
rs181826071
|
0.00206
|
|
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)
|
rs72650019
|
0.00206
|
|
NM_001267550.2(TTN):c.87707-4G>T
|
rs201770959
|
0.00206
|
|
NM_004168.4(SDHA):c.1623G>A (p.Lys541=)
|
rs35502109
|
0.00206
|
|
NM_001101362.3(KBTBD13):c.214C>T (p.Leu72=)
|
rs550537101
|
0.00205
|
|
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile)
|
rs11900987
|
0.00205
|
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
|
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)
|
rs72648245
|
0.00203
|
|
NM_139343.3(BIN1):c.384G>A (p.Thr128=)
|
rs61748158
|
0.00203
|
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
|
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu)
|
rs75686037
|
0.00202
|
|
NM_001849.4(COL6A2):c.1140C>T (p.Arg380=)
|
rs144482400
|
0.00202
|
|
NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser)
|
rs145520397
|
0.00201
|
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
|
NM_001267550.2(TTN):c.69412+10G>C
|
rs72646883
|
0.00200
|
|
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln)
|
rs151158105
|
0.00200
|
|
NM_001849.4(COL6A2):c.81G>A (p.Ser27=)
|
rs111639540
|
0.00199
|
|
NM_004168.4(SDHA):c.1551+16C>T
|
rs184954254
|
0.00198
|
|
NM_198271.5(LMOD3):c.135C>T (p.Asp45=)
|
rs138906041
|
0.00198
|
|
NM_001164508.2(NEB):c.22050+13C>T
|
rs113403461
|
0.00197
|
|
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)
|
rs200378865
|
0.00197
|
|
NM_001267550.2(TTN):c.37247C>T (p.Ser12416Leu)
|
rs370765948
|
0.00197
|
|
NM_002469.3(MYF6):c.352C>A (p.Arg118=)
|
rs34563783
|
0.00197
|
|
NM_001267550.2(TTN):c.34307A>G (p.Lys11436Arg)
|
rs568554504
|
0.00195
|
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
|
NM_001378030.1(CCDC78):c.953+10G>A
|
rs79863898
|
0.00195
|
|
NM_001848.3(COL6A1):c.2250+6G>C
|
rs202212586
|
0.00195
|
|
NM_006790.3(MYOT):c.822T>C (p.Ser274=)
|
rs138678049
|
0.00195
|
|
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile)
|
rs144930507
|
0.00194
|
|
NM_001848.3(COL6A1):c.324C>T (p.Gly108=)
|
rs138646508
|
0.00194
|
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
|
NM_001267550.2(TTN):c.98439G>A (p.Val32813=)
|
rs368487246
|
0.00193
|
|
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly)
|
rs201167067
|
0.00192
|
|
NM_001164508.2(NEB):c.10452+9A>G
|
rs117270796
|
0.00190
|
|
NM_001164508.2(NEB):c.11004G>A (p.Thr3668=)
|
rs117018177
|
0.00190
|
|
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=)
|
rs146538069
|
0.00190
|
|
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=)
|
rs149668487
|
0.00189
|
|
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg)
|
rs202125813
|
0.00189
|
|
NM_001927.4(DES):c.324G>A (p.Glu108=)
|
rs138677215
|
0.00189
|
|
NM_007078.3(LDB3):c.1460G>A (p.Arg487His)
|
rs146265188
|
0.00189
|
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
|
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)
|
rs116572520
|
0.00188
|
|
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro)
|
rs142317580
|
0.00188
|
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
|
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)
|
rs199859344
|
0.00187
|
|
NM_001164508.2(NEB):c.11076+12A>G
|
rs201250579
|
0.00186
|
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
|
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=)
|
rs147194375
|
0.00185
|
|
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)
|
rs149131555
|
0.00184
|
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
|
NM_001164508.2(NEB):c.25542C>T (p.Thr8514=)
|
rs3821324
|
0.00183
|
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
|
NM_152393.4(KLHL40):c.1762G>A (p.Glu588Lys)
|
rs201856772
|
0.00182
|
|
NM_001164508.2(NEB):c.19285G>A (p.Ala6429Thr)
|
rs149752325
|
0.00181
|
|
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn)
|
rs184740744
|
0.00181
|
|
NM_001164508.2(NEB):c.18579+6T>C
|
rs116189169
|
0.00180
|
|
NM_001378030.1(CCDC78):c.492+1G>A
|
rs138669350
|
0.00180
|
|
NM_001378030.1(CCDC78):c.737G>A (p.Arg246Gln)
|
rs147606575
|
0.00180
|
|
NM_004168.4(SDHA):c.1911C>T (p.Val637=)
|
rs11557098
|
0.00180
|
|
NM_001164508.2(NEB):c.19286C>A (p.Ala6429Asp)
|
rs139636644
|
0.00178
|
|
NM_001256545.2(MEGF10):c.1564G>A (p.Gly522Arg)
|
rs140563851
|
0.00178
|
|
NM_001382567.1(STIM1):c.507C>T (p.Val169=)
|
rs140488516
|
0.00178
|
|
NM_001458.5(FLNC):c.561C>T (p.Asp187=)
|
rs149474376
|
0.00178
|
|
NM_004369.4(COL6A3):c.3270C>T (p.Asp1090=)
|
rs113781746
|
0.00178
|
|
NM_001164508.2(NEB):c.22800+9A>G
|
rs144303545
|
0.00177
|
|
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)
|
rs143602832
|
0.00177
|
|
NM_001267550.2(TTN):c.29963-13A>G
|
rs72650008
|
0.00177
|
|
NM_001101362.3(KBTBD13):c.188A>T (p.Gln63Leu)
|
rs202004658
|
0.00175
|
|
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)
|
rs199714102
|
0.00175
|
|
NM_004281.4(BAG3):c.25A>G (p.Met9Val)
|
rs137965903
|
0.00175
|
|
NM_020451.3(SELENON):c.846C>T (p.Ser282=)
|
rs34177164
|
0.00175
|
|
NM_001848.3(COL6A1):c.1336-15C>T
|
rs201003020
|
0.00174
|
|
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr)
|
rs149632783
|
0.00173
|
|
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His)
|
rs201672146
|
0.00173
|
|
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val)
|
rs113169531
|
0.00173
|
|
NM_004370.6(COL12A1):c.5727C>T (p.Tyr1909=)
|
rs146146364
|
0.00173
|
|
NM_004370.6(COL12A1):c.8970T>C (p.Gly2990=)
|
rs190501064
|
0.00173
|
|
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr)
|
rs189966800
|
0.00172
|
|
NM_001164508.2(NEB):c.23599A>C (p.Lys7867Gln)
|
rs118191309
|
0.00171
|
|
NM_001256545.2(MEGF10):c.3216G>C (p.Arg1072Ser)
|
rs75783175
|
0.00171
|
|
NM_001378030.1(CCDC78):c.1238G>A (p.Arg413Gln)
|
rs148276717
|
0.00171
|
|
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys)
|
rs190565627
|
0.00170
|
|
NM_001164508.2(NEB):c.5718C>T (p.Ala1906=)
|
rs115379999
|
0.00169
|
|
NM_001458.5(FLNC):c.2390-9T>C
|
rs368068407
|
0.00168
|
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
0.00168
|
|
NM_007078.3(LDB3):c.954C>T (p.Pro318=)
|
rs45603139
|
0.00168
|
|
NM_152393.4(KLHL40):c.872A>C (p.Lys291Thr)
|
rs74843241
|
0.00168
|
|
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=)
|
rs142554239
|
0.00167
|
|
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp)
|
rs74482326
|
0.00166
|
|
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)
|
rs34718443
|
0.00165
|
|
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys)
|
rs201169452
|
0.00165
|
|
NM_001458.5(FLNC):c.8049C>T (p.Tyr2683=)
|
rs183104951
|
0.00165
|
|
NM_001164508.2(NEB):c.3639C>T (p.Val1213=)
|
rs74320183
|
0.00164
|
|
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=)
|
rs370597107
|
0.00163
|
|
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val)
|
rs115813214
|
0.00163
|
|
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe)
|
rs141215990
|
0.00163
|
|
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=)
|
rs141463437
|
0.00163
|
|
NM_001849.4(COL6A2):c.483C>T (p.Thr161=)
|
rs138312213
|
0.00163
|
|
NM_198271.5(LMOD3):c.1190A>G (p.Gln397Arg)
|
rs199592188
|
0.00163
|
|
NM_000036.3(AMPD1):c.334G>A (p.Val112Met)
|
rs61741025
|
0.00162
|
|
NM_001164508.2(NEB):c.18464A>C (p.Tyr6155Ser)
|
rs201971223
|
0.00162
|
|
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)
|
rs143933602
|
0.00162
|
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
|
NM_006063.3(KLHL41):c.1737T>C (p.Ala579=)
|
rs76875207
|
0.00160
|
|
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=)
|
rs201200682
|
0.00159
|
|
NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp)
|
rs145274257
|
0.00159
|
|
NM_004370.6(COL12A1):c.1896C>T (p.Tyr632=)
|
rs201266825
|
0.00159
|
|
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu)
|
rs143473183
|
0.00158
|
|
NM_001382567.1(STIM1):c.1634+287G>A
|
rs562406813
|
0.00157
|
|
NM_001164508.2(NEB):c.19377C>T (p.Asp6459=)
|
rs187211085
|
0.00156
|
|
NM_001164508.2(NEB):c.8072G>A (p.Arg2691His)
|
rs35555631
|
0.00156
|
|
NM_001267550.2(TTN):c.30598+15C>T
|
rs79685525
|
0.00156
|
|
NM_001458.5(FLNC):c.6991G>A (p.Val2331Met)
|
rs191288058
|
0.00156
|
|
NM_001849.4(COL6A2):c.1560C>G (p.Pro520=)
|
rs112197239
|
0.00156
|
|
NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu)
|
rs200815663
|
0.00154
|
|
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala)
|
rs200017524
|
0.00154
|
|
NM_001378030.1(CCDC78):c.1043G>A (p.Arg348Gln)
|
rs142170929
|
0.00154
|
|
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)
|
rs140534207
|
0.00154
|
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
|
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn)
|
rs189202799
|
0.00153
|
|
NM_004281.4(BAG3):c.909+17G>A
|
rs139086861
|
0.00153
|
|
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln)
|
rs71578935
|
0.00152
|
|
NM_139343.3(BIN1):c.1540C>T (p.Arg514Cys)
|
rs148422103
|
0.00152
|
|
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)
|
rs72646880
|
0.00151
|
|
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile)
|
rs199805060
|
0.00151
|
|
NM_001458.5(FLNC):c.2389+12C>T
|
rs370526829
|
0.00151
|
|
NM_198859.4(PRICKLE2):c.1035C>G (p.Gly345=)
|
rs34084584
|
0.00151
|
|
NM_001164508.2(NEB):c.19836+10C>G
|
rs148814261
|
0.00148
|
|
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)
|
rs36105240
|
0.00148
|
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
|
NM_152393.4(KLHL40):c.1421+9G>A
|
rs184819763
|
0.00148
|
|
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His)
|
rs576918934
|
0.00147
|
|
NM_001267550.2(TTN):c.11254+2T>C
|
rs199565715
|
0.00147
|
|
NM_004369.4(COL6A3):c.1761C>T (p.Ala587=)
|
rs34978064
|
0.00147
|
|
NM_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln)
|
rs181511246
|
0.00147
|
|
NM_213720.3(CHCHD10):c.41+7G>A
|
rs141526972
|
0.00147
|
|
NM_001164508.2(NEB):c.2318A>G (p.Tyr773Cys)
|
rs77151072
|
0.00146
|
|
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)
|
rs145204073
|
0.00146
|
|
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr)
|
rs72650040
|
0.00146
|
|
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)
|
rs189768015
|
0.00146
|
|
NM_032790.4(ORAI1):c.49C>T (p.Pro17Ser)
|
rs568054544
|
0.00146
|
|
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=)
|
rs185574478
|
0.00145
|
|
NM_001256545.2(MEGF10):c.2034C>T (p.Asn678=)
|
rs117124929
|
0.00145
|
|
NM_001267550.2(TTN):c.10104T>G (p.Val3368=)
|
rs142460433
|
0.00145
|
|
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys)
|
rs72648972
|
0.00145
|
|
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)
|
rs144599870
|
0.00145
|
|
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys)
|
rs202040332
|
0.00144
|
|
NM_001458.5(FLNC):c.4456+14G>A
|
rs375227447
|
0.00144
|
|
NM_001848.3(COL6A1):c.588+8C>G
|
rs398123638
|
0.00144
|
|
NM_004281.4(BAG3):c.1587C>T (p.Ala529=)
|
rs149358702
|
0.00144
|
|
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)
|
rs200992277
|
0.00143
|
|
NM_001458.5(FLNC):c.6714C>T (p.Thr2238=)
|
rs10268251
|
0.00143
|
|
NM_001848.3(COL6A1):c.105C>G (p.Pro35=)
|
rs145579577
|
0.00143
|
|
NM_198859.4(PRICKLE2):c.788-6T>C
|
rs180903875
|
0.00143
|
|
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)
|
rs141155976
|
0.00142
|
|
NM_001458.5(FLNC):c.3861C>T (p.His1287=)
|
rs375986462
|
0.00142
|
|
NM_000183.3(HADHB):c.64+11T>C
|
rs57709136
|
0.00141
|
|
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu)
|
rs150733188
|
0.00141
|
|
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=)
|
rs6706088
|
0.00141
|
|
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)
|
rs148849567
|
0.00141
|
|
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)
|
rs201158906
|
0.00141
|
|
NM_004281.4(BAG3):c.549C>G (p.Ser183=)
|
rs112929734
|
0.00141
|
|
NM_004370.6(COL12A1):c.5402T>C (p.Ile1801Thr)
|
rs200317239
|
0.00141
|
|
NM_020451.3(SELENON):c.852C>T (p.Phe284=)
|
rs187880136
|
0.00141
|
|
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)
|
rs190336010
|
0.00140
|
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
|
NM_001848.3(COL6A1):c.1644C>T (p.Asp548=)
|
rs182425338
|
0.00140
|
|
NM_000036.3(AMPD1):c.1224+7C>T
|
rs191152112
|
0.00139
|
|
NM_001458.5(FLNC):c.5262C>T (p.Tyr1754=)
|
rs369165766
|
0.00139
|
|
NM_001164508.2(NEB):c.19665T>C (p.Ile6555=)
|
rs150842230
|
0.00138
|
|
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln)
|
rs34932223
|
0.00138
|
|
NM_001843.4(CNTN1):c.1911C>T (p.Tyr637=)
|
rs61759481
|
0.00138
|
|
NM_006063.3(KLHL41):c.197T>C (p.Ile66Thr)
|
rs116809051
|
0.00138
|
|
NM_198271.5(LMOD3):c.837G>A (p.Lys279=)
|
rs185967498
|
0.00138
|
|
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)
|
rs201141958
|
0.00137
|
|
NM_001267550.2(TTN):c.48460+8C>T
|
rs2288565
|
0.00137
|
|
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln)
|
rs142874389
|
0.00137
|
|
NM_001458.5(FLNC):c.1698C>T (p.Ser566=)
|
rs112194548
|
0.00137
|
|
NM_198271.5(LMOD3):c.1657-14T>C
|
rs200984574
|
0.00137
|
|
NM_001164508.2(NEB):c.19746T>C (p.Ala6582=)
|
rs143456239
|
0.00136
|
|
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met)
|
rs75133741
|
0.00136
|
|
NM_007078.3(LDB3):c.1422G>A (p.Ser474=)
|
rs142625982
|
0.00136
|
|
NM_001458.5(FLNC):c.2122-17T>C
|
rs144828462
|
0.00135
|
|
NM_001458.5(FLNC):c.6459C>T (p.Thr2153=)
|
rs113618587
|
0.00135
|
|
NM_001848.3(COL6A1):c.1776C>T (p.Asp592=)
|
rs148439285
|
0.00135
|
|
NM_001164508.2(NEB):c.1206C>T (p.Cys402=)
|
rs199695976
|
0.00134
|
|
NM_001164508.2(NEB):c.24874-8C>T
|
rs200902944
|
0.00134
|
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
|
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val)
|
rs146767076
|
0.00134
|
|
NM_001267550.2(TTN):c.8902+14T>A
|
rs13388274
|
0.00134
|
|
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr)
|
rs72647885
|
0.00134
|
|
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=)
|
rs138976133
|
0.00134
|
|
NM_001164508.2(NEB):c.2637+17A>G
|
rs145112154
|
0.00133
|
|
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln)
|
rs200431386
|
0.00133
|
|
NM_001267550.2(TTN):c.16621+7A>T
|
rs10200398
|
0.00133
|
|
NM_001267550.2(TTN):c.17183-9T>C
|
rs141687561
|
0.00133
|
|
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)
|
rs72650030
|
0.00133
|
|
NM_001458.5(FLNC):c.6005-9T>C
|
rs118124743
|
0.00133
|
|
NM_006790.3(MYOT):c.981T>C (p.Asn327=)
|
rs148479015
|
0.00133
|
|
NM_001267550.2(TTN):c.36750G>A (p.Pro12250=)
|
rs777458053
|
0.00132
|
|
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly)
|
rs183950862
|
0.00132
|
|
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=)
|
rs191066933
|
0.00132
|
|
NM_001848.3(COL6A1):c.2049C>T (p.Asn683=)
|
rs143695871
|
0.00132
|
|
NM_001164508.2(NEB):c.1035+16C>A
|
rs141976907
|
0.00131
|
|
NM_001164508.2(NEB):c.4463T>C (p.Met1488Thr)
|
rs201545521
|
0.00131
|
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
|
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)
|
rs578191491
|
0.00131
|
|
NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln)
|
rs201636548
|
0.00131
|
|
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=)
|
rs138062080
|
0.00131
|
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
|
NM_020451.3(SELENON):c.729G>A (p.Pro243=)
|
rs139020143
|
0.00131
|
|
NM_145064.3(STAC3):c.355C>T (p.Arg119Cys)
|
rs146313451
|
0.00131
|
|
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=)
|
rs182425565
|
0.00130
|
|
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=)
|
rs56812642
|
0.00130
|
|
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=)
|
rs150219725
|
0.00130
|
|
NM_032790.4(ORAI1):c.576G>A (p.Val192=)
|
rs373332284
|
0.00130
|
|
NM_001256545.2(MEGF10):c.1626C>T (p.Cys542=)
|
rs146902993
|
0.00129
|
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
|
NM_001267550.2(TTN):c.1938+10G>C
|
rs190935632
|
0.00129
|
|
NM_001267550.2(TTN):c.32555-6T>C
|
rs375742678
|
0.00129
|
|
NM_001164508.2(NEB):c.16788C>T (p.Asn5596=)
|
rs186902443
|
0.00128
|
|
NM_001267550.2(TTN):c.1002C>T (p.Thr334=)
|
rs148094198
|
0.00128
|
|
NM_001267550.2(TTN):c.36285C>T (p.His12095=)
|
rs201184203
|
0.00128
|
|
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys)
|
rs149534094
|
0.00128
|
|
NM_032790.4(ORAI1):c.668A>G (p.Asn223Ser)
|
rs75603737
|
0.00127
|
|
NM_001458.5(FLNC):c.1813+11G>T
|
rs138716837
|
0.00126
|
|
NM_000036.3(AMPD1):c.381+1G>C
|
rs143303736
|
0.00125
|
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
|
NM_001164508.2(NEB):c.9072G>A (p.Ala3024=)
|
rs369897667
|
0.00125
|
|
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)
|
rs115119858
|
0.00125
|
|
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys)
|
rs201797790
|
0.00125
|
|
NM_001267550.2(TTN):c.426C>T (p.Ala142=)
|
rs56137037
|
0.00125
|
|
NM_001378030.1(CCDC78):c.755G>A (p.Trp252Ter)
|
rs142133229
|
0.00125
|
|
NM_004369.4(COL6A3):c.489G>A (p.Ala163=)
|
rs148970984
|
0.00125
|
|
NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu)
|
rs200646131
|
0.00125
|
|
NM_007078.3(LDB3):c.689+10G>A
|
rs45563234
|
0.00125
|
|
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp)
|
rs61758863
|
0.00124
|
|
NM_001267550.2(TTN):c.10726A>G (p.Thr3576Ala)
|
rs6433728
|
0.00124
|
|
NM_001267550.2(TTN):c.1398+16C>T
|
rs144043280
|
0.00124
|
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
|
NM_001458.5(FLNC):c.597C>T (p.Ala199=)
|
rs143942649
|
0.00124
|
|
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp)
|
rs116690555
|
0.00124
|
|
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)
|
rs183272965
|
0.00124
|
|
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)
|
rs201825451
|
0.00123
|
|
NM_001267550.2(TTN):c.2764C>T (p.Arg922Cys)
|
rs72647862
|
0.00123
|
|
NM_001267550.2(TTN):c.34453+12C>A
|
rs74930148
|
0.00123
|
|
NM_006063.3(KLHL41):c.684A>C (p.Thr228=)
|
rs141395388
|
0.00123
|
|
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala)
|
rs11658164
|
0.00123
|
|
NM_001164508.2(NEB):c.12640-4A>G
|
rs549888246
|
0.00122
|
|
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=)
|
rs371075036
|
0.00122
|
|
NM_001267550.2(TTN):c.25134A>G (p.Ala8378=)
|
rs371819104
|
0.00122
|
|
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)
|
rs141233891
|
0.00122
|
|
NM_004369.4(COL6A3):c.4090G>A (p.Val1364Met)
|
rs35524572
|
0.00122
|
|
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser)
|
rs181166140
|
0.00121
|
|
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser)
|
rs28928909
|
0.00121
|
|
NM_003283.6(TNNT1):c.780C>T (p.His260=)
|
rs78810486
|
0.00121
|
|
NM_001458.5(FLNC):c.2180G>A (p.Arg727His)
|
rs200618242
|
0.00120
|
|
NM_001843.4(CNTN1):c.2598C>G (p.Ala866=)
|
rs140462332
|
0.00120
|
|
NM_020451.3(SELENON):c.1602+14C>T
|
rs41284307
|
0.00120
|
|
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)
|
rs139747674
|
0.00120
|
|
NM_001164508.2(NEB):c.12C>T (p.Asp4=)
|
rs117178114
|
0.00119
|
|
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=)
|
rs200088963
|
0.00119
|
|
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His)
|
rs200971254
|
0.00119
|
|
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=)
|
rs201069454
|
0.00119
|
|
NM_001164508.2(NEB):c.17601G>A (p.Val5867=)
|
rs58263509
|
0.00118
|
|
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)
|
rs187925021
|
0.00118
|
|
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)
|
rs72646808
|
0.00118
|
|
NM_001849.4(COL6A2):c.1970-3C>A
|
rs201879417
|
0.00118
|
|
NM_004370.6(COL12A1):c.743T>C (p.Ile248Thr)
|
rs199673248
|
0.00118
|
|
NM_001164508.2(NEB):c.8202C>T (p.Val2734=)
|
rs144595998
|
0.00117
|
|
NM_001256545.2(MEGF10):c.2857-8T>G
|
rs201148765
|
0.00117
|
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
|
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)
|
rs72648255
|
0.00117
|
|
NM_004168.4(SDHA):c.1368G>A (p.Ser456=)
|
rs149875171
|
0.00117
|
|
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=)
|
rs6709752
|
0.00116
|
|
NM_001256545.2(MEGF10):c.1602C>T (p.Tyr534=)
|
rs114704569
|
0.00116
|
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
|
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=)
|
rs376992044
|
0.00116
|
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
|
NM_001164508.2(NEB):c.469A>G (p.Ile157Val)
|
rs188718613
|
0.00115
|
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
|
NM_213720.3(CHCHD10):c.229A>G (p.Ser77Gly)
|
rs370872556
|
0.00115
|
|
NM_001164508.2(NEB):c.17510A>G (p.Lys5837Arg)
|
rs201962649
|
0.00114
|
|
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=)
|
rs138968178
|
0.00114
|
|
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala)
|
rs201218828
|
0.00113
|
|
NM_001267550.2(TTN):c.33581-18T>C
|
rs148392677
|
0.00113
|
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
|
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=)
|
rs372019333
|
0.00113
|
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
|
NM_198859.4(PRICKLE2):c.438G>A (p.Ala146=)
|
rs149786687
|
0.00113
|
|
NM_001164508.2(NEB):c.177G>A (p.Gln59=)
|
rs200990309
|
0.00112
|
|
NM_001843.4(CNTN1):c.2980+19A>T
|
rs181426756
|
0.00112
|
|
NM_001848.3(COL6A1):c.2469G>A (p.Thr823=)
|
rs146662894
|
0.00112
|
|
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp)
|
rs144484744
|
0.00112
|
|
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr)
|
rs148183839
|
0.00112
|
|
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr)
|
rs150615457
|
0.00112
|
|
NM_000252.3(MTM1):c.339T>C (p.Cys113=)
|
rs147644722
|
0.00111
|
|
NM_001164508.2(NEB):c.5747T>C (p.Met1916Thr)
|
rs142540692
|
0.00111
|
|
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp)
|
rs55857742
|
0.00111
|
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
|
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met)
|
rs143035953
|
0.00111
|
|
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)
|
rs142891278
|
0.00111
|
|
NM_001458.5(FLNC):c.4581-5T>A
|
rs368660628
|
0.00111
|
|
NM_002469.3(MYF6):c.559T>A (p.Trp187Arg)
|
rs143677057
|
0.00111
|
|
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala)
|
rs200408101
|
0.00111
|
|
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)
|
rs201835888
|
0.00110
|
|
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=)
|
rs146163169
|
0.00110
|
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
|
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)
|
rs146496197
|
0.00110
|
|
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile)
|
rs200343420
|
0.00110
|
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
|
NM_001458.5(FLNC):c.3000T>C (p.Asp1000=)
|
rs184454068
|
0.00110
|
|
NM_001848.3(COL6A1):c.2758C>T (p.Leu920=)
|
rs141620374
|
0.00110
|
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
|
NM_145064.3(STAC3):c.883T>C (p.Phe295Leu)
|
rs138921555
|
0.00110
|
|
NM_001101362.3(KBTBD13):c.1119C>T (p.Asn373=)
|
rs201760548
|
0.00109
|
|
NM_001164508.2(NEB):c.2283C>T (p.Ala761=)
|
rs373946448
|
0.00109
|
|
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)
|
rs55832587
|
0.00109
|
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
|
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=)
|
rs55956577
|
0.00109
|
|
NM_001164508.2(NEB):c.10269G>A (p.Pro3423=)
|
rs368719373
|
0.00108
|
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
|
NM_001164508.2(NEB):c.2604G>T (p.Leu868=)
|
rs201698008
|
0.00108
|
|
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys)
|
rs200545007
|
0.00108
|
|
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys)
|
rs199560188
|
0.00108
|
|
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=)
|
rs370604524
|
0.00108
|
|
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala)
|
rs201185434
|
0.00108
|
|
NM_001267550.2(TTN):c.16055-9A>C
|
rs368897883
|
0.00108
|
|
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=)
|
rs371026448
|
0.00108
|
|
NM_001267550.2(TTN):c.91565-13C>T
|
rs200847757
|
0.00108
|
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
|
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=)
|
rs140663434
|
0.00108
|
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00108
|
|
NM_001458.5(FLNC):c.5766G>A (p.Ala1922=)
|
rs58914363
|
0.00108
|
|
NM_001164508.2(NEB):c.13078C>G (p.Leu4360Val)
|
rs761799512
|
0.00107
|
|
NM_001164508.2(NEB):c.21673A>T (p.Thr7225Ser)
|
rs187977960
|
0.00107
|
|
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His)
|
rs199652066
|
0.00107
|
|
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)
|
rs200692495
|
0.00107
|
|
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=)
|
rs143049740
|
0.00107
|
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
|
NM_001101362.3(KBTBD13):c.981C>G (p.Thr327=)
|
rs184130258
|
0.00106
|
|
NM_001164508.2(NEB):c.6808-11T>C
|
rs199804593
|
0.00106
|
|
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser)
|
rs201707021
|
0.00106
|
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00106
|
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00106
|
|
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=)
|
rs186699871
|
0.00106
|
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
|
NM_001378030.1(CCDC78):c.1098C>T (p.Pro366=)
|
rs140104512
|
0.00106
|
|
NM_001458.5(FLNC):c.6998-5C>T
|
rs139030003
|
0.00106
|
|
NM_001843.4(CNTN1):c.804-8A>G
|
rs56172264
|
0.00106
|
|
NM_001101362.3(KBTBD13):c.117C>T (p.Gly39=)
|
rs367684457
|
0.00105
|
|
NM_001164508.2(NEB):c.8373+13G>A
|
rs199564399
|
0.00105
|
|
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met)
|
rs201167216
|
0.00105
|
|
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)
|
rs72646852
|
0.00105
|
|
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu)
|
rs200875379
|
0.00105
|
|
NM_001843.4(CNTN1):c.400+13T>C
|
rs201396853
|
0.00105
|
|
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)
|
rs199929757
|
0.00105
|
|
NM_006063.3(KLHL41):c.398G>A (p.Gly133Asp)
|
rs147294651
|
0.00105
|
|
NM_001164508.2(NEB):c.21840+13A>C
|
rs75515097
|
0.00104
|
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
|
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=)
|
rs185062935
|
0.00104
|
|
NM_001267550.2(TTN):c.29605-12T>C
|
rs143352892
|
0.00104
|
|
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=)
|
rs188584219
|
0.00104
|
|
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr)
|
rs144668626
|
0.00104
|
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
|
NM_017534.6(MYH2):c.3048G>A (p.Leu1016=)
|
rs145796634
|
0.00104
|
|
NM_138638.5(CFL2):c.21G>A (p.Val7=)
|
rs149700171
|
0.00104
|
|
NM_001267550.2(TTN):c.101406C>G (p.Val33802=)
|
rs55802460
|
0.00103
|
|
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)
|
rs56324602
|
0.00103
|
|
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr)
|
rs142794598
|
0.00103
|
|
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=)
|
rs187182557
|
0.00103
|
|
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)
|
rs56293906
|
0.00103
|
|
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro)
|
rs186273940
|
0.00103
|
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00103
|
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
|
NM_001848.3(COL6A1):c.1336-17G>A
|
rs185337381
|
0.00103
|
|
NM_004370.6(COL12A1):c.7355-9A>G
|
rs145346828
|
0.00103
|
|
NM_004370.6(COL12A1):c.8421C>T (p.Arg2807=)
|
rs371949188
|
0.00103
|
|
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)
|
rs117390537
|
0.00103
|
|
NM_001164508.2(NEB):c.18262-13C>T
|
rs374553944
|
0.00102
|
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00102
|
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00102
|
|
NM_001267550.2(TTN):c.49998T>C (p.Asn16666=)
|
rs376917681
|
0.00102
|
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
|
NM_001849.4(COL6A2):c.115+6del
|
rs578127995
|
0.00102
|
|
NM_032790.4(ORAI1):c.100A>C (p.Ser34Arg)
|
rs781829024
|
0.00102
|
|
NM_001164508.2(NEB):c.8553G>A (p.Gly2851=)
|
rs200624735
|
0.00101
|
|
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser)
|
rs201005813
|
0.00101
|
|
NM_001849.4(COL6A2):c.2503G>A (p.Val835Ile)
|
rs117668143
|
0.00101
|
|
NM_001849.4(COL6A2):c.492C>T (p.His164=)
|
rs140929054
|
0.00101
|
|
NM_003283.6(TNNT1):c.128+17T>G
|
rs201135309
|
0.00101
|
|
NM_004370.6(COL12A1):c.7990A>G (p.Ile2664Val)
|
rs41266763
|
0.00101
|
|
NM_004370.6(COL12A1):c.8179-10A>G
|
rs142509363
|
0.00101
|
|
NM_139343.3(BIN1):c.1611C>T (p.Asp537=)
|
rs142523172
|
0.00101
|
|
NM_001164508.2(NEB):c.8643C>T (p.Ser2881=)
|
rs150135749
|
0.00100
|
|
NM_001267550.2(TTN):c.1776T>C (p.Asp592=)
|
rs147081804
|
0.00100
|
|
NM_001267550.2(TTN):c.76523C>A (p.Pro25508Gln)
|
rs188085512
|
0.00100
|
|
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala)
|
rs150682764
|
0.00100
|
|
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)
|
rs56026369
|
0.00099
|
|
NM_001267550.2(TTN):c.35876-9T>C
|
rs572783607
|
0.00099
|
|
NM_001267550.2(TTN):c.39296-13C>T
|
rs372380420
|
0.00099
|
|
NM_001267550.2(TTN):c.96998G>A (p.Arg32333His)
|
rs138846756
|
0.00099
|
|
NM_001843.4(CNTN1):c.1507+19G>T
|
rs145594554
|
0.00099
|
|
NM_001849.4(COL6A2):c.2751G>T (p.Val917=)
|
rs111341650
|
0.00099
|
|
NM_017534.6(MYH2):c.4379C>G (p.Ala1460Gly)
|
rs148693677
|
0.00099
|
|
NM_001256545.2(MEGF10):c.3026-8C>T
|
rs185480820
|
0.00098
|
|
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)
|
rs72646842
|
0.00098
|
|
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)
|
rs371480338
|
0.00097
|
|
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=)
|
rs150544093
|
0.00097
|
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
|
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)
|
rs72646899
|
0.00097
|
|
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr)
|
rs111387770
|
0.00097
|
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
|
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly)
|
rs148689951
|
0.00097
|
|
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)
|
rs139582106
|
0.00096
|
|
NM_001164508.2(NEB):c.3801T>C (p.Asp1267=)
|
rs182725059
|
0.00096
|
|
NM_001164508.2(NEB):c.9315C>A (p.Val3105=)
|
rs371174518
|
0.00096
|
|
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)
|
rs185683410
|
0.00096
|
|
NM_001267550.2(TTN):c.107961T>C (p.His35987=)
|
rs377439315
|
0.00096
|
|
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu)
|
rs73973139
|
0.00096
|
|
NM_001267550.2(TTN):c.18938G>C (p.Ser6313Thr)
|
rs200120672
|
0.00096
|
|
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)
|
rs147207100
|
0.00096
|
|
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)
|
rs111727915
|
0.00096
|
|
NM_001849.4(COL6A2):c.2423-11C>T
|
rs199952790
|
0.00096
|
|
NM_001849.4(COL6A2):c.2484G>A (p.Thr828=)
|
rs147199350
|
0.00096
|
|
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=)
|
rs116066149
|
0.00096
|
|
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu)
|
rs202092407
|
0.00096
|
|
NM_004370.6(COL12A1):c.6641A>G (p.Gln2214Arg)
|
rs41269303
|
0.00096
|
|
NM_006063.3(KLHL41):c.652G>A (p.Val218Met)
|
rs147527225
|
0.00096
|
|
NM_007078.3(LDB3):c.1653C>T (p.Cys551=)
|
rs45581435
|
0.00096
|
|
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala)
|
rs115986826
|
0.00095
|
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
|
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu)
|
rs115548605
|
0.00095
|
|
NM_007078.3(LDB3):c.993G>A (p.Ala331=)
|
rs140347820
|
0.00095
|
|
NM_139343.3(BIN1):c.1003-15G>A
|
rs149290511
|
0.00095
|
|
NM_001267550.2(TTN):c.101936C>G (p.Pro33979Arg)
|
rs200238877
|
0.00094
|
|
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=)
|
rs372997298
|
0.00094
|
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
|
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=)
|
rs55892928
|
0.00094
|
|
NM_001458.5(FLNC):c.6362-17C>G
|
rs368901431
|
0.00094
|
|
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp)
|
rs142582318
|
0.00093
|
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00093
|
|
NM_001267550.2(TTN):c.38311A>G (p.Lys12771Glu)
|
rs551811137
|
0.00093
|
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00093
|
|
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met)
|
rs145527033
|
0.00093
|
|
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=)
|
rs201069672
|
0.00093
|
|
NM_001267550.2(TTN):c.88485C>T (p.Leu29495=)
|
rs371612136
|
0.00093
|
|
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)
|
rs143502850
|
0.00093
|
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00093
|
|
NM_001164508.2(NEB):c.3987+11A>T
|
rs116903097
|
0.00092
|
|
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile)
|
rs148164929
|
0.00092
|
|
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)
|
rs72648939
|
0.00092
|
|
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys)
|
rs59148238
|
0.00092
|
|
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser)
|
rs116320983
|
0.00091
|
|
NM_001164508.2(NEB):c.1897-16A>G
|
rs186001008
|
0.00091
|
|
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)
|
rs147293964
|
0.00091
|
|
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=)
|
rs186563991
|
0.00091
|
|
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu)
|
rs72646845
|
0.00091
|
|
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)
|
rs149763294
|
0.00091
|
|
NM_001843.4(CNTN1):c.2523+4C>T
|
rs74076940
|
0.00091
|
|
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=)
|
rs61735833
|
0.00091
|
|
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=)
|
rs184725551
|
0.00091
|
|
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)
|
rs55938627
|
0.00090
|
|
NM_001267550.2(TTN):c.25351+13C>G
|
rs138362885
|
0.00090
|
|
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)
|
rs200648462
|
0.00090
|
|
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=)
|
rs376078394
|
0.00090
|
|
NM_001458.5(FLNC):c.7185C>T (p.Ser2395=)
|
rs199880128
|
0.00090
|
|
NM_152393.4(KLHL40):c.600G>A (p.Arg200=)
|
rs142392214
|
0.00090
|
|
NM_001164508.2(NEB):c.9354A>G (p.Thr3118=)
|
rs187637065
|
0.00089
|
|
NM_001267550.2(TTN):c.15906C>T (p.Val5302=)
|
rs375179152
|
0.00089
|
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
|
NM_001267550.2(TTN):c.48451A>G (p.Thr16151Ala)
|
rs186497293
|
0.00089
|
|
NM_004281.4(BAG3):c.1503C>A (p.Val501=)
|
rs147277075
|
0.00089
|
|
NM_004369.4(COL6A3):c.91+11G>C
|
rs372744024
|
0.00089
|
|
NM_001164508.2(NEB):c.10434T>C (p.Asn3478=)
|
rs375543045
|
0.00088
|
|
NM_001267550.2(TTN):c.18531G>C (p.Val6177=)
|
rs370684491
|
0.00088
|
|
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile)
|
rs139790668
|
0.00088
|
|
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu)
|
rs146400809
|
0.00088
|
|
NM_001267550.2(TTN):c.41010T>C (p.Asp13670=)
|
rs193191368
|
0.00088
|
|
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)
|
rs184643087
|
0.00088
|
|
NM_001378030.1(CCDC78):c.1134-9C>T
|
rs199505710
|
0.00088
|
|
NM_001378030.1(CCDC78):c.1245G>A (p.Thr415=)
|
rs146067716
|
0.00088
|
|
NM_007078.3(LDB3):c.295C>T (p.Pro99Ser)
|
rs201693259
|
0.00088
|
|
NM_017534.6(MYH2):c.805+8T>A
|
rs201549295
|
0.00088
|
|
NM_152393.4(KLHL40):c.1495G>A (p.Ala499Thr)
|
rs148921329
|
0.00088
|
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
|
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=)
|
rs373182578
|
0.00087
|
|
NM_001378030.1(CCDC78):c.308G>A (p.Arg103Gln)
|
rs151206197
|
0.00087
|
|
NM_001849.4(COL6A2):c.568G>A (p.Val190Met)
|
rs150877061
|
0.00087
|
|
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=)
|
rs146538551
|
0.00086
|
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
|
NM_001267550.2(TTN):c.2775+4G>A
|
rs548681281
|
0.00086
|
|
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=)
|
rs186105748
|
0.00086
|
|
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr)
|
rs201836227
|
0.00086
|
|
NM_001267550.2(TTN):c.81123G>A (p.Thr27041=)
|
rs181299250
|
0.00086
|
|
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=)
|
rs368243641
|
0.00086
|
|
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys)
|
rs201905890
|
0.00086
|
|
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=)
|
rs373274913
|
0.00086
|
|
NM_003283.6(TNNT1):c.750+15C>T
|
rs138664823
|
0.00086
|
|
NM_004370.6(COL12A1):c.8753-19G>A
|
rs185465645
|
0.00086
|
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
|
NM_017534.6(MYH2):c.2106C>T (p.Asn702=)
|
rs145039915
|
0.00085
|
|
NM_017534.6(MYH2):c.3308A>T (p.Glu1103Val)
|
rs139295564
|
0.00085
|
|
NM_020451.3(SELENON):c.1596C>T (p.Gly532=)
|
rs149623434
|
0.00085
|
|
NM_000036.3(AMPD1):c.767+18C>A
|
rs146422068
|
0.00084
|
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
|
NM_001164508.2(NEB):c.2603T>C (p.Leu868Pro)
|
rs143123053
|
0.00083
|
|
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)
|
rs201432372
|
0.00083
|
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
|
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)
|
rs200459347
|
0.00083
|
|
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)
|
rs200445568
|
0.00083
|
|
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)
|
rs371719028
|
0.00083
|
|
NM_001267550.2(TTN):c.88340C>G (p.Thr29447Arg)
|
rs140201636
|
0.00083
|
|
NM_001382567.1(STIM1):c.387A>G (p.Val129=)
|
rs116855870
|
0.00083
|
|
NM_001458.5(FLNC):c.7947C>T (p.Phe2649=)
|
rs368849358
|
0.00083
|
|
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)
|
rs150098077
|
0.00083
|
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00083
|
|
NM_004370.6(COL12A1):c.4958-7A>C
|
rs1332779
|
0.00083
|
|
NM_032790.3(ORAI1):c.309-5C>T
|
rs111498037
|
0.00083
|
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
|
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile)
|
rs72649002
|
0.00082
|
|
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
|
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met)
|
rs150907698
|
0.00082
|
|
NM_006790.3(MYOT):c.634-15T>C
|
rs115598221
|
0.00082
|
|
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)
|
rs200596619
|
0.00082
|
|
NM_152393.4(KLHL40):c.1314-12C>T
|
rs201343745
|
0.00082
|
|
NM_001164508.2(NEB):c.18783G>A (p.Gln6261=)
|
rs148095660
|
0.00081
|
|
NM_001164508.2(NEB):c.9052G>A (p.Asp3018Asn)
|
rs192098032
|
0.00081
|
|
NM_001256545.2(MEGF10):c.117-5_117-4insC
|
rs538399152
|
0.00081
|
|
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys)
|
rs34706803
|
0.00081
|
|
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr)
|
rs202108224
|
0.00081
|
|
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu)
|
rs200049911
|
0.00081
|
|
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)
|
rs193022702
|
0.00081
|
|
NM_001382567.1(STIM1):c.234T>C (p.Asp78=)
|
rs146126071
|
0.00081
|
|
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met)
|
rs150432347
|
0.00081
|
|
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser)
|
rs138791086
|
0.00081
|
|
NM_001256545.2(MEGF10):c.1975+10G>A
|
rs148814585
|
0.00080
|
|
NM_001267550.2(TTN):c.32807-10T>A
|
rs138192315
|
0.00080
|
|
NM_001382567.1(STIM1):c.1170C>G (p.Leu390=)
|
rs143609147
|
0.00080
|
|
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)
|
rs138899581
|
0.00080
|
|
NM_001848.3(COL6A1):c.996C>T (p.Gly332=)
|
rs11702055
|
0.00080
|
|
NM_001849.4(COL6A2):c.3025G>A (p.Gly1009Ser)
|
rs35887009
|
0.00080
|
|
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)
|
rs138951890
|
0.00080
|
|
NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys)
|
rs200367429
|
0.00080
|
|
NM_000036.3(AMPD1):c.1122G>A (p.Lys374=)
|
rs138993729
|
0.00079
|
|
NM_001164508.2(NEB):c.17887G>A (p.Val5963Ile)
|
rs138217960
|
0.00079
|
|
NM_001267550.2(TTN):c.1537-4G>A
|
rs56006378
|
0.00079
|
|
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=)
|
rs373842558
|
0.00079
|
|
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=)
|
rs372609980
|
0.00079
|
|
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)
|
rs56130023
|
0.00079
|
|
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)
|
rs187180708
|
0.00079
|
|
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=)
|
rs190406444
|
0.00079
|
|
NM_001101362.3(KBTBD13):c.171T>C (p.Gly57=)
|
rs369379657
|
0.00078
|
|
NM_001164508.2(NEB):c.19219G>A (p.Glu6407Lys)
|
rs144539316
|
0.00078
|
|
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)
|
rs144963736
|
0.00078
|
|
NM_001267550.2(TTN):c.54812-5A>G
|
rs375343798
|
0.00078
|
|
NM_001267550.2(TTN):c.98683+7G>C
|
rs141150066
|
0.00078
|
|
NM_001843.4(CNTN1):c.2823+5A>G
|
rs148453314
|
0.00078
|
|
NM_001848.3(COL6A1):c.381C>T (p.Thr127=)
|
rs75180385
|
0.00078
|
|
NM_006063.3(KLHL41):c.913C>T (p.Leu305Phe)
|
rs149971244
|
0.00078
|
|
NM_001164508.2(NEB):c.1258-7C>G
|
rs371265681
|
0.00077
|
|
NM_001164508.2(NEB):c.21419T>C (p.Ile7140Thr)
|
rs200112795
|
0.00077
|
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
|
NM_001458.5(FLNC):c.7990+9C>T
|
rs566679569
|
0.00077
|
|
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)
|
rs138674440
|
0.00077
|
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
|
NM_002469.3(MYF6):c.269C>A (p.Ala90Asp)
|
rs138296448
|
0.00077
|
|
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr)
|
rs112181324
|
0.00077
|
|
NM_001164508.2(NEB):c.25161G>A (p.Gln8387=)
|
rs376897146
|
0.00076
|
|
NM_001256545.2(MEGF10):c.1130+3G>A
|
rs115184652
|
0.00076
|
|
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met)
|
rs148551876
|
0.00076
|
|
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=)
|
rs143368674
|
0.00076
|
|
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)
|
rs201505306
|
0.00076
|
|
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=)
|
rs201285872
|
0.00076
|
|
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met)
|
rs201333104
|
0.00076
|
|
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=)
|
rs139243418
|
0.00076
|
|
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln)
|
rs141663473
|
0.00076
|
|
NM_004168.4(SDHA):c.1260+13G>T
|
rs185239026
|
0.00076
|
|
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met)
|
rs111402193
|
0.00076
|
|
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=)
|
rs115401779
|
0.00076
|
|
NM_001164508.2(NEB):c.25289T>C (p.Val8430Ala)
|
rs151338614
|
0.00075
|
|
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=)
|
rs200425929
|
0.00075
|
|
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=)
|
rs201155967
|
0.00075
|
|
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)
|
rs72646867
|
0.00075
|
|
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)
|
rs142525903
|
0.00075
|
|
NM_004168.4(SDHA):c.1002G>A (p.Ala334=)
|
rs144252500
|
0.00075
|
|
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg)
|
rs113153193
|
0.00075
|
|
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)
|
rs200387466
|
0.00074
|
|
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=)
|
rs190830121
|
0.00074
|
|
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)
|
rs151335428
|
0.00074
|
|
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr)
|
rs141609058
|
0.00074
|
|
NM_152393.4(KLHL40):c.447C>T (p.Ala149=)
|
rs138852341
|
0.00074
|
|
NM_001164508.2(NEB):c.5763+15C>T
|
rs148455519
|
0.00073
|
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
|
NM_001267550.2(TTN):c.86434A>G (p.Ile28812Val)
|
rs201918596
|
0.00073
|
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
|
NM_198859.4(PRICKLE2):c.145-4T>G
|
rs375489210
|
0.00073
|
|
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=)
|
rs201400523
|
0.00072
|
|
NM_001267550.2(TTN):c.38902C>T (p.Pro12968Ser)
|
rs192528655
|
0.00072
|
|
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala)
|
rs56137800
|
0.00072
|
|
NM_001848.3(COL6A1):c.984C>T (p.Asp328=)
|
rs781038607
|
0.00072
|
|
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn)
|
rs138285547
|
0.00072
|
|
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met)
|
rs148810173
|
0.00072
|
|
NM_152393.4(KLHL40):c.648G>T (p.Ala216=)
|
rs200613578
|
0.00072
|
|
NM_001164508.2(NEB):c.3184A>G (p.Lys1062Glu)
|
rs192117840
|
0.00071
|
|
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys)
|
rs189553632
|
0.00071
|
|
NM_001164508.2(NEB):c.4720-18C>T
|
rs79402065
|
0.00071
|
|
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)
|
rs55838839
|
0.00071
|
|
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)
|
rs55725279
|
0.00071
|
|
NM_001267550.2(TTN):c.1246-16G>A
|
rs72647847
|
0.00071
|
|
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)
|
rs188878341
|
0.00071
|
|
NM_001267550.2(TTN):c.40786+15C>A
|
rs187582271
|
0.00071
|
|
NM_001267550.2(TTN):c.44529C>T (p.His14843=)
|
rs55973744
|
0.00071
|
|
NM_001267550.2(TTN):c.52406-16G>A
|
rs372221219
|
0.00071
|
|
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)
|
rs56399205
|
0.00071
|
|
NM_004369.4(COL6A3):c.1214T>C (p.Phe405Ser)
|
rs114549120
|
0.00071
|
|
NM_004370.6(COL12A1):c.2711-15T>C
|
rs74331327
|
0.00071
|
|
NM_004370.6(COL12A1):c.7140G>A (p.Thr2380=)
|
rs200230227
|
0.00071
|
|
NM_004370.6(COL12A1):c.997+14G>A
|
rs201998466
|
0.00071
|
|
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu)
|
rs150645738
|
0.00070
|
|
NM_000183.3(HADHB):c.246A>G (p.Ala82=)
|
rs151302743
|
0.00070
|
|
NM_001267550.2(TTN):c.30224-8T>G
|
rs72650010
|
0.00070
|
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
|
NM_001267550.2(TTN):c.6041C>T (p.Thr2014Ile)
|
rs189149543
|
0.00070
|
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
|
NM_001382567.1(STIM1):c.2079C>A (p.Gly693=)
|
rs147912041
|
0.00070
|
|
NM_001848.3(COL6A1):c.1708G>A (p.Ala570Thr)
|
rs144358858
|
0.00070
|
|
NM_004370.6(COL12A1):c.8941+18C>T
|
rs368092763
|
0.00070
|
|
NM_020451.3(SELENON):c.1623C>T (p.Asn541=)
|
rs199911454
|
0.00070
|
|
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile)
|
rs199890298
|
0.00069
|
|
NM_001164508.2(NEB):c.2416-6G>T
|
rs185433570
|
0.00069
|
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
|
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)
|
rs200287703
|
0.00069
|
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00069
|
|
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)
|
rs200173934
|
0.00069
|
|
NM_017534.6(MYH2):c.811C>T (p.Leu271=)
|
rs115487650
|
0.00069
|
|
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)
|
rs183923129
|
0.00068
|
|
NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp)
|
rs181469519
|
0.00068
|
|
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln)
|
rs149641783
|
0.00068
|
|
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys)
|
rs202223616
|
0.00068
|
|
NM_001848.3(COL6A1):c.981C>T (p.Ile327=)
|
rs138401567
|
0.00068
|
|
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=)
|
rs146311719
|
0.00068
|
|
NM_017534.6(MYH2):c.3585G>A (p.Ala1195=)
|
rs143988052
|
0.00068
|
|
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met)
|
rs138393827
|
0.00068
|
|
NM_004370.6(COL12A1):c.6062G>A (p.Arg2021Gln)
|
rs34438461
|
0.00067
|
|
NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=)
|
rs184663595
|
0.00067
|
|
NM_139343.3(BIN1):c.30G>A (p.Thr10=)
|
rs35535012
|
0.00067
|
|
NM_001100.4(ACTA1):c.132C>T (p.Gly44=)
|
rs146956806
|
0.00066
|
|
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile)
|
rs201886728
|
0.00066
|
|
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg)
|
rs138217855
|
0.00066
|
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
|
NM_001267550.2(TTN):c.75192T>C (p.Thr25064=)
|
rs370480927
|
0.00066
|
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
|
NM_001378030.1(CCDC78):c.196G>A (p.Val66Ile)
|
rs145112523
|
0.00066
|
|
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)
|
rs148038440
|
0.00066
|
|
NM_152393.4(KLHL40):c.1801G>A (p.Ala601Thr)
|
rs144659891
|
0.00066
|
|
NM_198271.5(LMOD3):c.129C>T (p.Ala43=)
|
rs201709177
|
0.00066
|
|
NM_000183.3(HADHB):c.900C>T (p.Tyr300=)
|
rs144093705
|
0.00065
|
|
NM_001164508.2(NEB):c.217C>T (p.Arg73Trp)
|
rs77994592
|
0.00065
|
|
NM_001267550.2(TTN):c.40927+16C>T
|
rs369965589
|
0.00065
|
|
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)
|
rs200550947
|
0.00065
|
|
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=)
|
rs200463088
|
0.00065
|
|
NM_001458.5(FLNC):c.4456+13C>T
|
rs200456962
|
0.00065
|
|
NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu)
|
rs142882745
|
0.00065
|
|
NM_004370.6(COL12A1):c.190+14C>G
|
rs536848485
|
0.00065
|
|
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln)
|
rs200963111
|
0.00064
|
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00064
|
|
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)
|
rs377180286
|
0.00064
|
|
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala)
|
rs199784966
|
0.00064
|
|
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)
|
rs73036377
|
0.00064
|
|
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)
|
rs72648266
|
0.00064
|
|
NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg)
|
rs182976977
|
0.00064
|
|
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)
|
rs202170644
|
0.00064
|
|
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe)
|
rs200251444
|
0.00063
|
|
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)
|
rs72629793
|
0.00063
|
|
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=)
|
rs140495148
|
0.00063
|
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
|
NM_001267550.2(TTN):c.55659G>A (p.Val18553=)
|
rs368450420
|
0.00063
|
|
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)
|
rs72646848
|
0.00063
|
|
NM_001267550.2(TTN):c.6790+12C>T
|
rs200187117
|
0.00063
|
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
|
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)
|
rs200450022
|
0.00063
|
|
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)
|
rs182549226
|
0.00063
|
|
NM_001458.5(FLNC):c.3621C>T (p.Asn1207=)
|
rs117864464
|
0.00063
|
|
NM_001849.4(COL6A2):c.2998A>G (p.Lys1000Glu)
|
rs151244310
|
0.00063
|
|
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly)
|
rs189762594
|
0.00063
|
|
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His)
|
rs143341678
|
0.00063
|
|
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)
|
rs200118743
|
0.00062
|
|
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)
|
rs373099440
|
0.00062
|
|
NM_004369.4(COL6A3):c.6310-18C>T
|
rs112905665
|
0.00062
|
|
NM_000182.5(HADHA):c.809C>T (p.Ala270Val)
|
rs141429393
|
0.00061
|
|
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg)
|
rs34504204
|
0.00061
|
|
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe)
|
rs182866658
|
0.00061
|
|
NM_001164508.2(NEB):c.23241+16C>T
|
rs75221580
|
0.00061
|
|
NM_001164508.2(NEB):c.23451+14A>C
|
rs190098609
|
0.00061
|
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00061
|
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
|
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=)
|
rs370036981
|
0.00061
|
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
|
NM_001267550.2(TTN):c.39211+6C>T
|
rs187365142
|
0.00061
|
|
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=)
|
rs371344165
|
0.00061
|
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
|
NM_001267550.2(TTN):c.9703+17T>A
|
rs377693857
|
0.00061
|
|
NM_001368067.1(LDB3):c.780C>T (p.Asn260=)
|
rs372789789
|
0.00061
|
|
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)
|
rs201635205
|
0.00061
|
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
|
NM_004168.4(SDHA):c.894A>G (p.Thr298=)
|
rs774584410
|
0.00061
|
|
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp)
|
rs201962257
|
0.00061
|
|
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)
|
rs142851023
|
0.00061
|
|
NM_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys)
|
rs200693552
|
0.00061
|
|
NM_152393.4(KLHL40):c.1293G>A (p.Ser431=)
|
rs150475700
|
0.00061
|
|
NM_001267550.2(TTN):c.29042-2A>C
|
rs6716782
|
0.00060
|
|
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)
|
rs188063446
|
0.00060
|
|
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg)
|
rs189525930
|
0.00060
|
|
NM_002469.3(MYF6):c.528T>C (p.Gly176=)
|
rs145205388
|
0.00060
|
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
|
NM_020451.3(SELENON):c.1282-10G>A
|
rs556910756
|
0.00060
|
|
NM_000183.3(HADHB):c.1224+5G>A
|
rs559277360
|
0.00059
|
|
NM_001164508.2(NEB):c.2524-15G>T
|
rs151206071
|
0.00059
|
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
|
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)
|
rs55857909
|
0.00059
|
|
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=)
|
rs149127072
|
0.00059
|
|
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=)
|
rs72648216
|
0.00059
|
|
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=)
|
rs116817879
|
0.00059
|
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
|
NM_003319.4(TTN):c.19502-5A>G
|
rs182706301
|
0.00059
|
|
NM_017534.6(MYH2):c.1587+5G>T
|
rs192223842
|
0.00059
|
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
|
NM_001164508.2(NEB):c.20367+16G>C
|
rs145636096
|
0.00058
|
|
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=)
|
rs186244044
|
0.00058
|
|
NM_001164508.2(NEB):c.8499G>A (p.Lys2833=)
|
rs183998406
|
0.00058
|
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
|
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln)
|
rs201418615
|
0.00058
|
|
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)
|
rs183844833
|
0.00058
|
|
NM_001927.4(DES):c.656C>T (p.Thr219Ile)
|
rs144901249
|
0.00058
|
|
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)
|
rs372480044
|
0.00058
|
|
NM_004369.4(COL6A3):c.7685T>C (p.Val2562Ala)
|
rs143631346
|
0.00058
|
|
NM_139343.3(BIN1):c.471C>T (p.Tyr157=)
|
rs138885327
|
0.00058
|
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
|
NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr)
|
rs200121902
|
0.00057
|
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
|
NM_001378030.1(CCDC78):c.1302-8C>A
|
rs201006875
|
0.00057
|
|
NM_001458.5(FLNC):c.2390-8C>G
|
rs146063718
|
0.00057
|
|
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)
|
rs137964147
|
0.00057
|
|
NM_001848.3(COL6A1):c.993C>T (p.Asp331=)
|
rs373948031
|
0.00057
|
|
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=)
|
rs149077114
|
0.00057
|
|
NM_004369.4(COL6A3):c.292A>T (p.Thr98Ser)
|
rs76646066
|
0.00057
|
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
|
NM_198271.5(LMOD3):c.1123T>C (p.Tyr375His)
|
rs201506296
|
0.00057
|
|
NM_001101362.3(KBTBD13):c.815T>A (p.Ile272Asn)
|
rs558291810
|
0.00056
|
|
NM_001164508.2(NEB):c.19284C>T (p.His6428=)
|
rs201005449
|
0.00056
|
|
NM_001267550.2(TTN):c.296-14T>C
|
rs199951296
|
0.00056
|
|
NM_001267550.2(TTN):c.32011+10C>G
|
rs192002980
|
0.00056
|
|
NM_001267550.2(TTN):c.40634-9A>G
|
rs373511249
|
0.00056
|
|
NM_001267550.2(TTN):c.58155C>A (p.Pro19385=)
|
rs373587801
|
0.00056
|
|
NM_001267550.2(TTN):c.68792G>A (p.Ser22931Asn)
|
rs201567815
|
0.00056
|
|
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn)
|
rs56019808
|
0.00056
|
|
NM_001267550.2(TTN):c.92362G>A (p.Gly30788Ser)
|
rs199891245
|
0.00056
|
|
NM_003283.6(TNNT1):c.107-16C>A
|
rs187180704
|
0.00056
|
|
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg)
|
rs148246073
|
0.00056
|
|
NM_004168.4(SDHA):c.600A>G (p.Leu200=)
|
rs201967413
|
0.00056
|
|
NM_198271.5(LMOD3):c.927T>C (p.Asn309=)
|
rs181434087
|
0.00056
|
|
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His)
|
rs150874422
|
0.00055
|
|
NM_001267550.2(TTN):c.44548+9A>G
|
rs372725070
|
0.00055
|
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
|
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)
|
rs72646849
|
0.00055
|
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
|
NM_001378030.1(CCDC78):c.1190G>A (p.Arg397His)
|
rs150304459
|
0.00055
|
|
NM_004281.4(BAG3):c.870C>G (p.Pro290=)
|
rs140737221
|
0.00055
|
|
NM_006790.3(MYOT):c.1190+12A>G
|
rs183456886
|
0.00055
|
|
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)
|
rs202209668
|
0.00054
|
|
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val)
|
rs148140756
|
0.00054
|
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
|
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=)
|
rs199598302
|
0.00054
|
|
NM_001267550.2(TTN):c.66576C>T (p.Leu22192=)
|
rs187378247
|
0.00054
|
|
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly)
|
rs201896662
|
0.00054
|
|
NM_001848.3(COL6A1):c.1525-18G>A
|
rs112502822
|
0.00054
|
|
NM_004369.4(COL6A3):c.3879T>G (p.Asp1293Glu)
|
rs74425496
|
0.00054
|
|
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met)
|
rs141593495
|
0.00054
|
|
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr)
|
rs201968775
|
0.00054
|
|
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr)
|
rs45539535
|
0.00054
|
|
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)
|
rs201692549
|
0.00054
|
|
NM_020451.3(SELENON):c.427G>A (p.Glu143Lys)
|
rs200958015
|
0.00054
|
|
NM_145064.3(STAC3):c.157G>A (p.Val53Met)
|
rs141938531
|
0.00054
|
|
NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr)
|
rs140181682
|
0.00053
|
|
NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile)
|
rs115092288
|
0.00053
|
|
NM_000252.3(MTM1):c.615G>A (p.Pro205=)
|
rs144517020
|
0.00053
|
|
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg)
|
rs370077023
|
0.00053
|
|
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)
|
rs201735487
|
0.00053
|
|
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)
|
rs189127014
|
0.00053
|
|
NM_001267550.2(TTN):c.50994T>C (p.Ser16998=)
|
rs752023426
|
0.00053
|
|
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr)
|
rs78814506
|
0.00053
|
|
NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr)
|
rs192725607
|
0.00053
|
|
NM_001848.3(COL6A1):c.1273-4T>C
|
rs373909354
|
0.00053
|
|
NM_001849.4(COL6A2):c.2462-12G>A
|
rs369839157
|
0.00053
|
|
NM_004370.6(COL12A1):c.3835+4A>G
|
rs187358458
|
0.00053
|
|
NM_017534.6(MYH2):c.2823G>T (p.Glu941Asp)
|
rs138206136
|
0.00053
|
|
NM_198271.5(LMOD3):c.416A>G (p.Asn139Ser)
|
rs150380359
|
0.00053
|
|
NM_000183.3(HADHB):c.1119T>C (p.Ile373=)
|
rs77943157
|
0.00052
|
|
NM_001164508.2(NEB):c.984C>T (p.Thr328=)
|
rs199969138
|
0.00052
|
|
NM_001256545.2(MEGF10):c.259A>G (p.Met87Val)
|
rs41298304
|
0.00052
|
|
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)
|
rs201035511
|
0.00052
|
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
|
NM_001378030.1(CCDC78):c.183C>G (p.Ile61Met)
|
rs140761899
|
0.00052
|
|
NM_001458.5(FLNC):c.5200-18C>T
|
rs372184893
|
0.00052
|
|
NM_001848.3(COL6A1):c.997G>A (p.Val333Met)
|
rs201525908
|
0.00052
|
|
NM_001849.4(COL6A2):c.791G>A (p.Arg264His)
|
rs148029276
|
0.00052
|
|
NM_003283.6(TNNT1):c.617G>A (p.Arg206Gln)
|
rs199652942
|
0.00052
|
|
NM_017534.6(MYH2):c.5472+3G>T
|
rs200691436
|
0.00052
|
|
NM_017534.6(MYH2):c.5820A>G (p.Glu1940=)
|
rs140527143
|
0.00052
|
|
NM_000252.3(MTM1):c.867+13A>C
|
rs368954714
|
0.00051
|
|
NM_001164508.2(NEB):c.3468C>T (p.Val1156=)
|
rs373258662
|
0.00051
|
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
|
NM_001267550.2(TTN):c.23378-10C>A
|
rs72648975
|
0.00051
|
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
|
NM_001267550.2(TTN):c.33827-8C>T
|
rs371318311
|
0.00051
|
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
|
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu)
|
rs192788942
|
0.00051
|
|
NM_001267550.2(TTN):c.57370G>A (p.Val19124Ile)
|
rs142841000
|
0.00051
|
|
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)
|
rs56391938
|
0.00051
|
|
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg)
|
rs72648228
|
0.00051
|
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
|
NM_001458.5(FLNC):c.3757G>A (p.Val1253Ile)
|
rs117366477
|
0.00051
|
|
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=)
|
rs144887329
|
0.00051
|
|
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)
|
rs200585528
|
0.00051
|
|
NM_001849.4(COL6A2):c.2575G>A (p.Val859Met)
|
rs370446082
|
0.00051
|
|
NM_001849.4(COL6A2):c.2661G>A (p.Glu887=)
|
rs148249892
|
0.00051
|
|
NM_004369.4(COL6A3):c.5619C>T (p.His1873=)
|
rs146355600
|
0.00051
|
|
NM_004370.6(COL12A1):c.1215C>T (p.Ser405=)
|
rs374962362
|
0.00051
|
|
NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr)
|
rs147042608
|
0.00051
|
|
NM_198271.5(LMOD3):c.1519G>A (p.Glu507Lys)
|
rs149196259
|
0.00051
|
|
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)
|
rs71441018
|
0.00050
|
|
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)
|
rs142311664
|
0.00050
|
|
NM_001100.4(ACTA1):c.809-18_809-17insT
|
rs776417838
|
0.00050
|
|
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys)
|
rs184516994
|
0.00050
|
|
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=)
|
rs200825430
|
0.00050
|
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
|
NM_004369.4(COL6A3):c.9494-10C>T
|
rs184617787
|
0.00050
|
|
NM_017534.6(MYH2):c.87T>C (p.Asn29=)
|
rs148217318
|
0.00050
|
|
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr)
|
rs199847072
|
0.00049
|
|
NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys)
|
rs200239095
|
0.00049
|
|
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)
|
rs370080995
|
0.00049
|
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00049
|
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00049
|
|
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu)
|
rs369440319
|
0.00049
|
|
NM_001378030.1(CCDC78):c.918G>C (p.Leu306=)
|
rs139766874
|
0.00049
|
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00049
|
|
NM_004370.6(COL12A1):c.7950+18T>G
|
rs141529820
|
0.00049
|
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
|
NM_198271.5(LMOD3):c.294+17G>A
|
rs192602600
|
0.00049
|
|
NM_001164508.2(NEB):c.19315-10T>C
|
rs201473873
|
0.00048
|
|
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=)
|
rs368625295
|
0.00048
|
|
NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln)
|
rs373587647
|
0.00048
|
|
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)
|
rs184153985
|
0.00048
|
|
NM_001267550.2(TTN):c.31763-1G>A
|
rs202234172
|
0.00048
|
|
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly)
|
rs72646822
|
0.00048
|
|
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)
|
rs72646876
|
0.00048
|
|
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)
|
rs201512527
|
0.00048
|
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
|
NM_001378030.1(CCDC78):c.1220G>A (p.Arg407Gln)
|
rs141141442
|
0.00048
|
|
NM_001378030.1(CCDC78):c.490G>A (p.Gly164Ser)
|
rs200747487
|
0.00048
|
|
NM_001458.5(FLNC):c.5540-20C>T
|
rs556203733
|
0.00048
|
|
NM_001458.5(FLNC):c.5592C>T (p.Ala1864=)
|
rs117517372
|
0.00048
|
|
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=)
|
rs148178994
|
0.00048
|
|
NM_001849.4(COL6A2):c.1969+17C>T
|
rs539735984
|
0.00048
|
|
NM_001849.4(COL6A2):c.2982C>T (p.Ala994=)
|
rs145460820
|
0.00048
|
|
NM_001849.4(COL6A2):c.928-9C>T
|
rs200571090
|
0.00048
|
|
NM_004281.4(BAG3):c.855G>A (p.Thr285=)
|
rs147259596
|
0.00048
|
|
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu)
|
rs370388701
|
0.00048
|
|
NM_007078.3(LDB3):c.1312A>G (p.Thr438Ala)
|
rs111941389
|
0.00048
|
|
NM_017534.6(MYH2):c.5003G>A (p.Arg1668Gln)
|
rs143022667
|
0.00048
|
|
NM_000182.5(HADHA):c.567C>T (p.Pro189=)
|
rs183297747
|
0.00047
|
|
NM_001164508.2(NEB):c.20263-18G>A
|
rs377143618
|
0.00047
|
|
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr)
|
rs113174390
|
0.00047
|
|
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=)
|
rs2303834
|
0.00047
|
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
|
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)
|
rs202017608
|
0.00047
|
|
NM_001843.4(CNTN1):c.873T>A (p.Ser291=)
|
rs200022020
|
0.00047
|
|
NM_002469.3(MYF6):c.292G>T (p.Ala98Ser)
|
rs199669444
|
0.00047
|
|
NM_004168.4(SDHA):c.456+6G>T
|
rs371735891
|
0.00047
|
|
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys)
|
rs147044263
|
0.00047
|
|
NM_198271.5(LMOD3):c.1645T>C (p.Tyr549His)
|
rs200045981
|
0.00047
|
|
NM_001164508.2(NEB):c.1045A>C (p.Lys349Gln)
|
rs369153778
|
0.00046
|
|
NM_001164508.2(NEB):c.12905A>T (p.Asn4302Ile)
|
rs886038429
|
0.00046
|
|
NM_001164508.2(NEB):c.1974T>C (p.Asp658=)
|
rs199528953
|
0.00046
|
|
NM_001256545.2(MEGF10):c.1533C>T (p.Asp511=)
|
rs151266058
|
0.00046
|
|
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)
|
rs72648947
|
0.00046
|
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00046
|
|
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu)
|
rs398124448
|
0.00046
|
|
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)
|
rs371943746
|
0.00046
|
|
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=)
|
rs192953152
|
0.00046
|
|
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)
|
rs139789997
|
0.00046
|
|
NM_001267550.2(TTN):c.65276-8T>C
|
rs377484398
|
0.00046
|
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
|
NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys)
|
rs201272728
|
0.00046
|
|
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)
|
rs73036368
|
0.00046
|
|
NM_001843.4(CNTN1):c.2929C>T (p.Arg977Cys)
|
rs150734960
|
0.00046
|
|
NM_001848.3(COL6A1):c.738+14C>T
|
rs374896651
|
0.00046
|
|
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)
|
rs147158850
|
0.00046
|
|
NM_003319.4(TTN):c.23663-9A>C
|
rs146208555
|
0.00046
|
|
NM_004168.4(SDHA):c.163T>C (p.Tyr55His)
|
rs142926807
|
0.00046
|
|
NM_004369.4(COL6A3):c.3680-5C>T
|
rs370146203
|
0.00046
|
|
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=)
|
rs114338020
|
0.00046
|
|
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)
|
rs200166942
|
0.00045
|
|
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu)
|
rs139504522
|
0.00045
|
|
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)
|
rs144094650
|
0.00045
|
|
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr)
|
rs141027782
|
0.00045
|
|
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=)
|
rs72648918
|
0.00045
|
|
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)
|
rs201523784
|
0.00045
|
|
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile)
|
rs149059189
|
0.00045
|
|
NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val)
|
rs372419267
|
0.00045
|
|
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His)
|
rs55677134
|
0.00045
|
|
NM_001267550.2(TTN):c.80722A>C (p.Arg26908=)
|
rs573877174
|
0.00045
|
|
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)
|
rs201348580
|
0.00045
|
|
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=)
|
rs374094732
|
0.00045
|
|
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)
|
rs200237564
|
0.00045
|
|
NM_001843.4(CNTN1):c.278T>C (p.Met93Thr)
|
rs142755965
|
0.00045
|
|
NM_004369.4(COL6A3):c.5500+19A>G
|
rs187794916
|
0.00045
|
|
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu)
|
rs200520924
|
0.00045
|
|
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala)
|
rs200029869
|
0.00045
|
|
NM_006063.3(KLHL41):c.1186G>T (p.Val396Leu)
|
rs147650614
|
0.00045
|
|
NM_000036.3(AMPD1):c.195C>T (p.Ser65=)
|
rs150208948
|
0.00044
|
|
NM_001101362.3(KBTBD13):c.189G>A (p.Gln63=)
|
rs777062916
|
0.00044
|
|
NM_001164508.2(NEB):c.11067C>T (p.Asn3689=)
|
rs200427401
|
0.00044
|
|
NM_001164508.2(NEB):c.18891+17G>A
|
rs376129412
|
0.00044
|
|
NM_001164508.2(NEB):c.23418G>T (p.Gln7806His)
|
rs765789028
|
0.00044
|
|
NM_001164508.2(NEB):c.23557-3C>G
|
rs374499643
|
0.00044
|
|
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys)
|
rs199643269
|
0.00044
|
|
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)
|
rs192152102
|
0.00044
|
|
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=)
|
rs56398525
|
0.00044
|
|
NM_001378030.1(CCDC78):c.493-16C>T
|
rs200531006
|
0.00044
|
|
NM_001382567.1(STIM1):c.2021G>A (p.Arg674His)
|
rs140080199
|
0.00044
|
|
NM_001848.3(COL6A1):c.3002G>A (p.Ser1001Asn)
|
rs756372387
|
0.00044
|
|
NM_001849.4(COL6A2):c.426G>A (p.Thr142=)
|
rs149480738
|
0.00044
|
|
NM_004369.4(COL6A3):c.7779C>T (p.Ile2593=)
|
rs144249704
|
0.00044
|
|
NM_017534.6(MYH2):c.1898-3C>T
|
rs370752980
|
0.00044
|
|
NM_020451.3(SELENON):c.1500+7G>A
|
rs200724231
|
0.00044
|
|
NM_020451.3(SELENON):c.907G>A (p.Asp303Asn)
|
rs200712993
|
0.00044
|
|
NM_001164508.2(NEB):c.2589C>T (p.Asp863=)
|
rs370176216
|
0.00043
|
|
NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn)
|
rs200729207
|
0.00043
|
|
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=)
|
rs367732133
|
0.00043
|
|
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His)
|
rs200204761
|
0.00043
|
|
NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly)
|
rs537312655
|
0.00043
|
|
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)
|
rs201622536
|
0.00043
|
|
NM_001267550.2(TTN):c.34856-17A>G
|
rs188686309
|
0.00043
|
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
|
NM_001267550.2(TTN):c.44014+19G>C
|
rs139264089
|
0.00043
|
|
NM_001458.5(FLNC):c.7281G>A (p.Ala2427=)
|
rs186451916
|
0.00043
|
|
NM_001849.4(COL6A2):c.2181G>A (p.Ala727=)
|
rs111938213
|
0.00043
|
|
NM_002469.3(MYF6):c.347T>C (p.Leu116Pro)
|
rs200372502
|
0.00043
|
|
NM_004369.4(COL6A3):c.786C>T (p.Leu262=)
|
rs111481402
|
0.00043
|
|
NM_004370.6(COL12A1):c.597A>G (p.Gln199=)
|
rs368715192
|
0.00043
|
|
NM_139343.3(BIN1):c.1292C>T (p.Pro431Leu)
|
rs141119288
|
0.00043
|
|
NM_152393.4(KLHL40):c.968T>G (p.Ile323Ser)
|
rs146161469
|
0.00043
|
|
NM_000036.3(AMPD1):c.688A>G (p.Lys230Glu)
|
rs138705920
|
0.00042
|
|
NM_001164508.2(NEB):c.2107-8C>T
|
rs369441230
|
0.00042
|
|
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)
|
rs201394117
|
0.00042
|
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
0.00042
|
|
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)
|
rs72648971
|
0.00042
|
|
NM_001267550.2(TTN):c.36365-16A>G
|
rs372846061
|
0.00042
|
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
|
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln)
|
rs376820301
|
0.00042
|
|
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val)
|
rs201852681
|
0.00042
|
|
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu)
|
rs199702595
|
0.00042
|
|
NM_006063.3(KLHL41):c.1457C>T (p.Ser486Phe)
|
rs373391330
|
0.00042
|
|
NM_000116.5(TAFAZZIN):c.542-20C>T
|
rs373841640
|
0.00041
|
|
NM_001164508.2(NEB):c.5031+4T>C
|
rs370999716
|
0.00041
|
|
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser)
|
rs201728165
|
0.00041
|
|
NM_001267550.2(TTN):c.30433+11T>G
|
rs199848546
|
0.00041
|
|
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=)
|
rs374281025
|
0.00041
|
|
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln)
|
rs370390570
|
0.00041
|
|
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys)
|
rs200144345
|
0.00041
|
|
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val)
|
rs201482015
|
0.00041
|
|
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)
|
rs146970027
|
0.00041
|
|
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=)
|
rs186402008
|
0.00041
|
|
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)
|
rs72648212
|
0.00041
|
|
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met)
|
rs200899806
|
0.00041
|
|
NM_001267550.2(TTN):c.92241T>C (p.Gly30747=)
|
rs373311745
|
0.00041
|
|
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)
|
rs202096200
|
0.00041
|
|
NM_001267550.2(TTN):c.94464T>C (p.Ala31488=)
|
rs138888307
|
0.00041
|
|
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)
|
rs72648278
|
0.00041
|
|
NM_001378030.1(CCDC78):c.492C>T (p.Gly164=)
|
rs144396385
|
0.00041
|
|
NM_001458.5(FLNC):c.4457-19C>G
|
rs369731117
|
0.00041
|
|
NM_001458.5(FLNC):c.699+9G>A
|
rs749055253
|
0.00041
|
|
NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe)
|
rs180834558
|
0.00041
|
|
NM_004369.4(COL6A3):c.2205C>T (p.Gly735=)
|
rs148713779
|
0.00041
|
|
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met)
|
rs201131900
|
0.00041
|
|
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met)
|
rs116505603
|
0.00041
|
|
NM_004369.4(COL6A3):c.4888C>T (p.Pro1630Ser)
|
rs145560772
|
0.00041
|
|
NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser)
|
rs199724285
|
0.00041
|
|
NM_139343.3(BIN1):c.1629T>G (p.Ala543=)
|
rs143258043
|
0.00041
|
|
NM_000036.3(AMPD1):c.216-9C>T
|
rs570832252
|
0.00040
|
|
NM_001164508.2(NEB):c.6435C>T (p.Ile2145=)
|
rs375014703
|
0.00040
|
|
NM_001164508.2(NEB):c.9820G>A (p.Val3274Ile)
|
rs201288341
|
0.00040
|
|
NM_001256545.2(MEGF10):c.669T>A (p.Asp223Glu)
|
rs142221815
|
0.00040
|
|
NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser)
|
rs534339525
|
0.00040
|
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
|
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)
|
rs201080904
|
0.00040
|
|
NM_001368067.1(LDB3):c.771G>A (p.Thr257=)
|
rs144445130
|
0.00040
|
|
NM_001458.5(FLNC):c.2266-3C>T
|
rs369153392
|
0.00040
|
|
NM_001458.5(FLNC):c.4952-10C>T
|
rs142611699
|
0.00040
|
|
NM_001458.5(FLNC):c.5764G>A (p.Ala1922Thr)
|
rs202128602
|
0.00040
|
|
NM_001848.3(COL6A1):c.1015T>C (p.Tyr339His)
|
rs186775751
|
0.00040
|
|
NM_004281.4(BAG3):c.888C>T (p.His296=)
|
rs139399890
|
0.00040
|
|
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys)
|
rs200201449
|
0.00040
|
|
NM_017534.6(MYH2):c.332C>T (p.Ala111Val)
|
rs140468333
|
0.00040
|
|
NM_017534.6(MYH2):c.4583G>A (p.Arg1528His)
|
rs142934668
|
0.00040
|
|
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp)
|
rs199694315
|
0.00039
|
|
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His)
|
rs200307392
|
0.00039
|
|
NM_001256545.2(MEGF10):c.452G>A (p.Arg151Gln)
|
rs78069165
|
0.00039
|
|
NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln)
|
rs187703540
|
0.00039
|
|
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)
|
rs72648943
|
0.00039
|
|
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)
|
rs202089818
|
0.00039
|
|
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln)
|
rs200161147
|
0.00039
|
|
NM_001267550.2(TTN):c.32197+11G>A
|
rs369265969
|
0.00039
|
|
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)
|
rs367622770
|
0.00039
|
|
NM_001267550.2(TTN):c.64973-20T>G
|
rs185009265
|
0.00039
|
|
NM_001458.5(FLNC):c.3847A>G (p.Thr1283Ala)
|
rs367860958
|
0.00039
|
|
NM_001458.5(FLNC):c.6120C>T (p.Asp2040=)
|
rs116974302
|
0.00039
|
|
NM_001843.4(CNTN1):c.1745C>T (p.Thr582Ile)
|
rs374471716
|
0.00039
|
|
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=)
|
rs78365682
|
0.00039
|
|
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=)
|
rs150219857
|
0.00039
|
|
NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg)
|
rs2270668
|
0.00039
|
|
NM_004370.6(COL12A1):c.1152T>C (p.Pro384=)
|
rs200496785
|
0.00039
|
|
NM_004370.6(COL12A1):c.1892-7_1892-6del
|
rs1491398037
|
0.00039
|
|
NM_004370.6(COL12A1):c.5085A>G (p.Ser1695=)
|
rs190018580
|
0.00039
|
|
NM_017534.6(MYH2):c.2062+8A>G
|
rs117562194
|
0.00039
|
|
NM_017534.6(MYH2):c.3872-16T>C
|
rs199732843
|
0.00039
|
|
NM_017534.6(MYH2):c.882G>A (p.Ser294=)
|
rs201035972
|
0.00039
|
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
|
NM_152393.4(KLHL40):c.238G>C (p.Asp80His)
|
rs144461124
|
0.00039
|
|
NM_000182.5(HADHA):c.1153C>T (p.Leu385=)
|
rs139485335
|
0.00038
|
|
NM_000183.3(HADHB):c.254+8A>G
|
rs370597816
|
0.00038
|
|
NM_001101362.3(KBTBD13):c.795C>T (p.Gly265=)
|
rs577503698
|
0.00038
|
|
NM_001164508.2(NEB):c.13175G>A (p.Arg4392His)
|
rs772352938
|
0.00038
|
|
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys)
|
rs201419564
|
0.00038
|
|
NM_001164508.2(NEB):c.4299+7A>G
|
rs373926259
|
0.00038
|
|
NM_001267550.2(TTN):c.180T>C (p.Asp60=)
|
rs144750850
|
0.00038
|
|
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=)
|
rs199525540
|
0.00038
|
|
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)
|
rs201738153
|
0.00038
|
|
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=)
|
rs12615797
|
0.00038
|
|
NM_001267550.2(TTN):c.87137T>G (p.Met29046Arg)
|
rs143975327
|
0.00038
|
|
NM_001848.3(COL6A1):c.1776+11C>T
|
rs376317834
|
0.00038
|
|
NM_001848.3(COL6A1):c.2464+11C>T
|
rs202074876
|
0.00038
|
|
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr)
|
rs150378645
|
0.00038
|
|
NM_001848.3(COL6A1):c.349G>A (p.Val117Met)
|
rs150686304
|
0.00038
|
|
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu)
|
rs143919208
|
0.00038
|
|
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=)
|
rs189772397
|
0.00038
|
|
NM_001164508.2(NEB):c.18897G>T (p.Val6299=)
|
rs568599013
|
0.00037
|
|
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile)
|
rs189609282
|
0.00037
|
|
NM_001267550.2(TTN):c.12024C>T (p.Leu4008=)
|
rs371694842
|
0.00037
|
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
|
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn)
|
rs143186270
|
0.00037
|
|
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys)
|
rs199761901
|
0.00037
|
|
NM_001378030.1(CCDC78):c.200A>G (p.Asp67Gly)
|
rs150363147
|
0.00037
|
|
NM_001378030.1(CCDC78):c.575G>A (p.Arg192Gln)
|
rs144643237
|
0.00037
|
|
NM_001458.5(FLNC):c.1147C>G (p.Pro383Ala)
|
rs770615073
|
0.00037
|
|
NM_004168.4(SDHA):c.622-8T>C
|
rs370714378
|
0.00037
|
|
NM_004369.4(COL6A3):c.5609G>A (p.Ser1870Asn)
|
rs114804083
|
0.00037
|
|
NM_004369.4(COL6A3):c.5839-3C>T
|
rs112825341
|
0.00037
|
|
NM_017534.6(MYH2):c.1250G>C (p.Gly417Ala)
|
rs201775814
|
0.00037
|
|
NM_000036.3(AMPD1):c.1975-12A>T
|
rs189530823
|
0.00036
|
|
NM_000183.3(HADHB):c.560A>G (p.Asn187Ser)
|
rs138696018
|
0.00036
|
|
NM_001101362.3(KBTBD13):c.963G>A (p.Val321=)
|
rs548699720
|
0.00036
|
|
NM_001164508.2(NEB):c.11911-17T>C
|
rs144836165
|
0.00036
|
|
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val)
|
rs532986882
|
0.00036
|
|
NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly)
|
rs148631577
|
0.00036
|
|
NM_001267550.2(TTN):c.64654A>G (p.Ile21552Val)
|
rs201247592
|
0.00036
|
|
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)
|
rs190421400
|
0.00036
|
|
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)
|
rs199508062
|
0.00036
|
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
|
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)
|
rs149755500
|
0.00036
|
|
NM_001458.5(FLNC):c.5843-6C>G
|
rs370264663
|
0.00036
|
|
NM_001848.3(COL6A1):c.1096G>A (p.Ala366Thr)
|
rs183994910
|
0.00036
|
|
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)
|
rs117671123
|
0.00036
|
|
NM_004369.4(COL6A3):c.3755G>A (p.Arg1252His)
|
rs201314411
|
0.00036
|
|
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro)
|
rs143764931
|
0.00036
|
|
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr)
|
rs139922045
|
0.00036
|
|
NM_017534.6(MYH2):c.3000G>A (p.Lys1000=)
|
rs573063758
|
0.00036
|
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
0.00036
|
|
NM_139343.3(BIN1):c.715G>A (p.Val239Ile)
|
rs146573197
|
0.00036
|
|
NM_152393.4(KLHL40):c.1371G>A (p.Val457=)
|
rs142716131
|
0.00036
|
|
NM_152393.4(KLHL40):c.869C>A (p.Ala290Asp)
|
rs201567167
|
0.00036
|
|
NM_001164508.2(NEB):c.11078G>A (p.Arg3693His)
|
rs368915047
|
0.00035
|
|
NM_001164508.2(NEB):c.20466+7G>A
|
rs201684605
|
0.00035
|
|
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)
|
rs373946758
|
0.00035
|
|
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)
|
rs142454476
|
0.00035
|
|
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)
|
rs201714437
|
0.00035
|
|
NM_001256545.2(MEGF10):c.1622G>T (p.Arg541Leu)
|
rs142664089
|
0.00035
|
|
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=)
|
rs375408527
|
0.00035
|
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
|
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys)
|
rs376800688
|
0.00035
|
|
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)
|
rs56071233
|
0.00035
|
|
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)
|
rs72648205
|
0.00035
|
|
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)
|
rs183013408
|
0.00035
|
|
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)
|
rs191786700
|
0.00035
|
|
NM_001458.5(FLNC):c.7533C>T (p.Tyr2511=)
|
rs376806697
|
0.00035
|
|
NM_001843.4(CNTN1):c.147T>C (p.Asn49=)
|
rs61754100
|
0.00035
|
|
NM_001849.4(COL6A2):c.2995G>A (p.Glu999Lys)
|
rs142296092
|
0.00035
|
|
NM_004369.4(COL6A3):c.8007C>T (p.His2669=)
|
rs528369978
|
0.00035
|
|
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg)
|
rs185171880
|
0.00035
|
|
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile)
|
rs146406360
|
0.00034
|
|
NM_001100.4(ACTA1):c.786G>C (p.Thr262=)
|
rs141030526
|
0.00034
|
|
NM_001101362.3(KBTBD13):c.205C>T (p.Arg69Trp)
|
rs530722554
|
0.00034
|
|
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His)
|
rs147159176
|
0.00034
|
|
NM_001164508.2(NEB):c.5712T>C (p.Pro1904=)
|
rs35946547
|
0.00034
|
|
NM_001164508.2(NEB):c.6183+17C>T
|
rs371738434
|
0.00034
|
|
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu)
|
rs185496567
|
0.00034
|
|
NM_001256545.2(MEGF10):c.2104+20A>C
|
rs528070018
|
0.00034
|
|
NM_001256545.2(MEGF10):c.652G>A (p.Gly218Arg)
|
rs148663427
|
0.00034
|
|
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys)
|
rs369933152
|
0.00034
|
|
NM_001267550.2(TTN):c.16515T>C (p.Ser5505=)
|
rs201625116
|
0.00034
|
|
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)
|
rs199793620
|
0.00034
|
|
NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu)
|
rs373065549
|
0.00034
|
|
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg)
|
rs371580084
|
0.00034
|
|
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)
|
rs201793958
|
0.00034
|
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
|
NM_001267550.2(TTN):c.53287+6G>A
|
rs149890360
|
0.00034
|
|
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=)
|
rs187366691
|
0.00034
|
|
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)
|
rs199512049
|
0.00034
|
|
NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His)
|
rs376616067
|
0.00034
|
|
NM_001267550.2(TTN):c.99866-10C>T
|
rs773128928
|
0.00034
|
|
NM_001458.5(FLNC):c.7991-19C>T
|
rs537052947
|
0.00034
|
|
NM_001848.3(COL6A1):c.2187C>T (p.Asp729=)
|
rs369502543
|
0.00034
|
|
NM_001849.4(COL6A2):c.1970-10C>T
|
rs373369963
|
0.00034
|
|
NM_001849.4(COL6A2):c.2658C>T (p.Gly886=)
|
rs143168888
|
0.00034
|
|
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met)
|
rs116238578
|
0.00034
|
|
NM_004370.6(COL12A1):c.1188A>C (p.Ala396=)
|
rs202153313
|
0.00034
|
|
NM_004370.6(COL12A1):c.132A>G (p.Ser44=)
|
rs201454637
|
0.00034
|
|
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr)
|
rs184585202
|
0.00034
|
|
NM_004370.6(COL12A1):c.6281C>A (p.Thr2094Asn)
|
rs201567848
|
0.00034
|
|
NM_004370.6(COL12A1):c.8320-19T>C
|
rs369006332
|
0.00034
|
|
NM_006063.3(KLHL41):c.1569T>C (p.Asp523=)
|
rs373954289
|
0.00034
|
|
NM_006063.3(KLHL41):c.783C>T (p.Gly261=)
|
rs141574405
|
0.00034
|
|
NM_006790.3(MYOT):c.120T>A (p.Ile40=)
|
rs139254363
|
0.00034
|
|
NM_007078.3(LDB3):c.732C>T (p.Pro244=)
|
rs144509718
|
0.00034
|
|
NM_017534.6(MYH2):c.2304+7T>G
|
rs370223713
|
0.00034
|
|
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)
|
rs200662973
|
0.00034
|
|
NM_017534.6(MYH2):c.3582A>G (p.Thr1194=)
|
rs200505060
|
0.00034
|
|
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)
|
rs143820618
|
0.00034
|
|
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile)
|
rs368637389
|
0.00033
|
|
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp)
|
rs202234492
|
0.00033
|
|
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)
|
rs200213832
|
0.00033
|
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
|
NM_001267550.2(TTN):c.57770G>A (p.Arg19257Gln)
|
rs202076328
|
0.00033
|
|
NM_001267550.2(TTN):c.67058-16C>T
|
rs201800666
|
0.00033
|
|
NM_001458.5(FLNC):c.3964+9C>T
|
rs200448727
|
0.00033
|
|
NM_001848.3(COL6A1):c.1675-16C>T
|
rs200659458
|
0.00033
|
|
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val)
|
rs190664941
|
0.00033
|
|
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn)
|
rs139399166
|
0.00033
|
|
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu)
|
rs141355480
|
0.00033
|
|
NM_004369.4(COL6A3):c.5712C>T (p.Asp1904=)
|
rs151234107
|
0.00033
|
|
NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=)
|
rs113422196
|
0.00033
|
|
NM_004370.6(COL12A1):c.3954A>T (p.Ala1318=)
|
rs200346099
|
0.00033
|
|
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His)
|
rs151324784
|
0.00033
|
|
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met)
|
rs201988277
|
0.00033
|
|
NM_032790.4(ORAI1):c.12G>T (p.Glu4Asp)
|
rs868908978
|
0.00033
|
|
NM_152393.4(KLHL40):c.1738C>A (p.Leu580Ile)
|
rs149980411
|
0.00033
|
|
NM_001101362.3(KBTBD13):c.1264C>T (p.Arg422Trp)
|
rs370691794
|
0.00032
|
|
NM_001101362.3(KBTBD13):c.471C>T (p.Tyr157=)
|
rs550724858
|
0.00032
|
|
NM_001164508.2(NEB):c.18742C>T (p.Pro6248Ser)
|
rs189541265
|
0.00032
|
|
NM_001164508.2(NEB):c.6278T>C (p.Val2093Ala)
|
rs147476634
|
0.00032
|
|
NM_001256545.2(MEGF10):c.1130+12C>T
|
rs201836299
|
0.00032
|
|
NM_001256545.2(MEGF10):c.1841-5T>C
|
rs372378202
|
0.00032
|
|
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)
|
rs193212275
|
0.00032
|
|
NM_001267550.2(TTN):c.11583C>T (p.Thr3861=)
|
rs11899887
|
0.00032
|
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
|
NM_001267550.2(TTN):c.39128-14T>C
|
rs200916144
|
0.00032
|
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
|
NM_001267550.2(TTN):c.72723C>G (p.Val24241=)
|
rs372701206
|
0.00032
|
|
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)
|
rs369941201
|
0.00032
|
|
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)
|
rs201490050
|
0.00032
|
|
NM_001267550.2(TTN):c.8902+16T>A
|
rs66507451
|
0.00032
|
|
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=)
|
rs138313387
|
0.00032
|
|
NM_001458.5(FLNC):c.2568C>T (p.Pro856=)
|
rs201611050
|
0.00032
|
|
NM_001848.3(COL6A1):c.666C>T (p.Arg222=)
|
rs372581026
|
0.00032
|
|
NM_001849.4(COL6A2):c.225G>T (p.Pro75=)
|
rs143678454
|
0.00032
|
|
NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr)
|
rs114596320
|
0.00032
|
|
NM_198859.4(PRICKLE2):c.2433C>G (p.His811Gln)
|
rs113542442
|
0.00032
|
|
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)
|
rs121912682
|
0.00031
|
|
NM_000182.5(HADHA):c.1689+11C>T
|
rs367640259
|
0.00031
|
|
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys)
|
rs143832445
|
0.00031
|
|
NM_000183.3(HADHB):c.1023G>T (p.Met341Ile)
|
rs141484936
|
0.00031
|
|
NM_000183.3(HADHB):c.565G>A (p.Ala189Thr)
|
rs143683481
|
0.00031
|
|
NM_001164508.2(NEB):c.22548G>C (p.Gln7516His)
|
rs200776925
|
0.00031
|
|
NM_001164508.2(NEB):c.6704A>C (p.His2235Pro)
|
rs372800812
|
0.00031
|
|
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu)
|
rs199700878
|
0.00031
|
|
NM_001267550.2(TTN):c.101480G>A (p.Arg33827His)
|
rs376403708
|
0.00031
|
|
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=)
|
rs377391143
|
0.00031
|
|
NM_001267550.2(TTN):c.1212C>T (p.Tyr404=)
|
rs139187345
|
0.00031
|
|
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)
|
rs146000949
|
0.00031
|
|
NM_001267550.2(TTN):c.14898T>C (p.Ala4966=)
|
rs370105333
|
0.00031
|
|
NM_001267550.2(TTN):c.26019C>T (p.His8673=)
|
rs370266918
|
0.00031
|
|
NM_001267550.2(TTN):c.36448+15C>G
|
rs368164089
|
0.00031
|
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
|
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)
|
rs201358641
|
0.00031
|
|
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=)
|
rs374168580
|
0.00031
|
|
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)
|
rs185620750
|
0.00031
|
|
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)
|
rs372382315
|
0.00031
|
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
|
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)
|
rs72648226
|
0.00031
|
|
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His)
|
rs141817409
|
0.00031
|
|
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)
|
rs72648251
|
0.00031
|
|
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
|
NM_001458.5(FLNC):c.5070C>T (p.Leu1690=)
|
rs202027738
|
0.00031
|
|
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu)
|
rs200415625
|
0.00031
|
|
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)
|
rs149338158
|
0.00031
|
|
NM_001848.3(COL6A1):c.2067-6A>G
|
rs113876477
|
0.00031
|
|
NM_001848.3(COL6A1):c.531C>T (p.Asn177=)
|
rs767176038
|
0.00031
|
|
NM_001849.4(COL6A2):c.1117-7C>A
|
rs202094835
|
0.00031
|
|
NM_001849.4(COL6A2):c.528G>A (p.Gln176=)
|
rs377585812
|
0.00031
|
|
NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp)
|
rs138049094
|
0.00031
|
|
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)
|
rs114322958
|
0.00031
|
|
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=)
|
rs147537071
|
0.00031
|
|
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val)
|
rs149924028
|
0.00031
|
|
NM_004369.4(COL6A3):c.8243C>T (p.Pro2748Leu)
|
rs115595706
|
0.00031
|
|
NM_004369.4(COL6A3):c.8724C>T (p.Ala2908=)
|
rs114684687
|
0.00031
|
|
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe)
|
rs116980451
|
0.00031
|
|
NM_017534.6(MYH2):c.2889T>C (p.Leu963=)
|
rs146355976
|
0.00031
|
|
NM_017534.6(MYH2):c.878C>T (p.Thr293Ile)
|
rs774544504
|
0.00031
|
|
NM_139343.3(BIN1):c.906C>T (p.Gly302=)
|
rs371258305
|
0.00031
|
|
NM_001164508.2(NEB):c.20946A>G (p.Lys6982=)
|
rs371201870
|
0.00030
|
|
NM_001267550.2(TTN):c.24506-16T>C
|
rs200319727
|
0.00030
|
|
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr)
|
rs371452173
|
0.00030
|
|
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=)
|
rs371945519
|
0.00030
|
|
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=)
|
rs372686070
|
0.00030
|
|
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)
|
rs72646870
|
0.00030
|
|
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)
|
rs372782502
|
0.00030
|
|
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)
|
rs180828370
|
0.00030
|
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
|
NM_001267550.2(TTN):c.80271C>T (p.Val26757=)
|
rs199875474
|
0.00030
|
|
NM_001267550.2(TTN):c.88733G>A (p.Arg29578His)
|
rs374147064
|
0.00030
|
|
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser)
|
rs75022916
|
0.00030
|
|
NM_001267550.2(TTN):c.94863C>T (p.His31621=)
|
rs373871146
|
0.00030
|
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
0.00030
|
|
NM_004281.4(BAG3):c.381A>T (p.Ala127=)
|
rs140594879
|
0.00030
|
|
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala)
|
rs116794756
|
0.00030
|
|
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=)
|
rs140441798
|
0.00030
|
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
|
NM_032790.4(ORAI1):c.25C>T (p.Pro9Ser)
|
rs868966101
|
0.00030
|
|
NM_145064.3(STAC3):c.433-15C>T
|
rs189284325
|
0.00030
|
|
NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg)
|
rs150190849
|
0.00029
|
|
NM_000182.5(HADHA):c.315-12T>C
|
rs531815564
|
0.00029
|
|
NM_000252.3(MTM1):c.582C>T (p.Leu194=)
|
rs367912069
|
0.00029
|
|
NM_001164508.2(NEB):c.12492A>C (p.Pro4164=)
|
rs1462106212
|
0.00029
|
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
|
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)
|
rs111517514
|
0.00029
|
|
NM_001164508.2(NEB):c.21522T>C (p.Asp7174=)
|
rs185169373
|
0.00029
|
|
NM_001164508.2(NEB):c.22647G>A (p.Glu7549=)
|
rs201688876
|
0.00029
|
|
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=)
|
rs370873040
|
0.00029
|
|
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile)
|
rs202234374
|
0.00029
|
|
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)
|
rs200237973
|
0.00029
|
|
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)
|
rs188917199
|
0.00029
|
|
NM_001267550.2(TTN):c.10608G>A (p.Gln3536=)
|
rs371651343
|
0.00029
|
|
NM_001267550.2(TTN):c.14451A>G (p.Thr4817=)
|
rs370621465
|
0.00029
|
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
|
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)
|
rs372528823
|
0.00029
|
|
NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met)
|
rs184923756
|
0.00029
|
|
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)
|
rs200593368
|
0.00029
|
|
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr)
|
rs531590921
|
0.00029
|
|
NM_001267550.2(TTN):c.4645+8G>T
|
rs144456585
|
0.00029
|
|
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=)
|
rs190021597
|
0.00029
|
|
NM_001267550.2(TTN):c.52008C>G (p.Val17336=)
|
rs144507270
|
0.00029
|
|
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met)
|
rs375173874
|
0.00029
|
|
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)
|
rs201804005
|
0.00029
|
|
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00029
|
|
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg)
|
rs375204371
|
0.00029
|
|
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser)
|
rs377226540
|
0.00029
|
|
NM_001267550.2(TTN):c.79085T>C (p.Met26362Thr)
|
rs529839486
|
0.00029
|
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
|
NM_001267550.2(TTN):c.88306+8T>C
|
rs369690199
|
0.00029
|
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
|
NM_001378030.1(CCDC78):c.1053+12G>A
|
rs368223759
|
0.00029
|
|
NM_001382567.1(STIM1):c.114C>G (p.Ala38=)
|
rs150033189
|
0.00029
|
|
NM_001458.5(FLNC):c.1474A>G (p.Lys492Glu)
|
rs118056738
|
0.00029
|
|
NM_001458.5(FLNC):c.294G>A (p.Glu98=)
|
rs201839252
|
0.00029
|
|
NM_001458.5(FLNC):c.5842+17G>A
|
rs374289007
|
0.00029
|
|
NM_001848.3(COL6A1):c.1399-3C>T
|
rs200095847
|
0.00029
|
|
NM_001849.4(COL6A2):c.1522-9C>T
|
rs371576207
|
0.00029
|
|
NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn)
|
rs145785230
|
0.00029
|
|
NM_002469.3(MYF6):c.79G>A (p.Val27Met)
|
rs147184101
|
0.00029
|
|
NM_004281.4(BAG3):c.498C>T (p.His166=)
|
rs111682654
|
0.00029
|
|
NM_004369.4(COL6A3):c.4671C>T (p.Ser1557=)
|
rs116760648
|
0.00029
|
|
NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu)
|
rs113332380
|
0.00029
|
|
NM_004369.4(COL6A3):c.6151C>A (p.Pro2051Thr)
|
rs370397767
|
0.00029
|
|
NM_004369.4(COL6A3):c.6237C>T (p.Asn2079=)
|
rs34390834
|
0.00029
|
|
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=)
|
rs201814201
|
0.00029
|
|
NM_004369.4(COL6A3):c.9061G>C (p.Asp3021His)
|
rs144054353
|
0.00029
|
|
NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=)
|
rs150376179
|
0.00029
|
|
NM_006063.3(KLHL41):c.1476C>G (p.Val492=)
|
rs138411167
|
0.00029
|
|
NM_007078.3(LDB3):c.1035C>T (p.Ile345=)
|
rs121908336
|
0.00029
|
|
NM_017534.6(MYH2):c.1275C>T (p.Asn425=)
|
rs151000841
|
0.00029
|
|
NM_017534.6(MYH2):c.3820C>T (p.Arg1274Trp)
|
rs191102801
|
0.00029
|
|
NM_020451.3(SELENON):c.1428G>A (p.Ser476=)
|
rs41284305
|
0.00029
|
|
NM_020451.3(SELENON):c.716G>A (p.Arg239His)
|
rs199709671
|
0.00029
|
|
NM_139343.3(BIN1):c.1385C>T (p.Ser462Leu)
|
rs200580275
|
0.00029
|
|
NM_139343.3(BIN1):c.1674+20G>A
|
rs374227714
|
0.00029
|
|
NM_198271.5(LMOD3):c.1384T>G (p.Phe462Val)
|
rs368084636
|
0.00029
|
|
NM_213720.3(CHCHD10):c.113C>T (p.Pro38Leu)
|
rs564997204
|
0.00029
|
|
NM_000182.5(HADHA):c.1690-13G>A
|
rs368557552
|
0.00028
|
|
NM_000183.3(HADHB):c.640G>A (p.Val214Ile)
|
rs149693931
|
0.00028
|
|
NM_001164508.2(NEB):c.20853C>T (p.Ile6951=)
|
rs199730497
|
0.00028
|
|
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn)
|
rs200945025
|
0.00028
|
|
NM_001164508.2(NEB):c.24487-12G>T
|
rs534797175
|
0.00028
|
|
NM_001164508.2(NEB):c.9126C>T (p.Cys3042=)
|
rs373453206
|
0.00028
|
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
|
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=)
|
rs373223049
|
0.00028
|
|
NM_001267550.2(TTN):c.25064-11del
|
rs778596216
|
0.00028
|
|
NM_001267550.2(TTN):c.28463-14G>A
|
rs200917885
|
0.00028
|
|
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)
|
rs202160275
|
0.00028
|
|
NM_001267550.2(TTN):c.38378A>G (p.Lys12793Arg)
|
rs189389531
|
0.00028
|
|
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr)
|
rs191699632
|
0.00028
|
|
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)
|
rs376857956
|
0.00028
|
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00028
|
|
NM_001267550.2(TTN):c.49200G>A (p.Lys16400=)
|
rs539513077
|
0.00028
|
|
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)
|
rs202200861
|
0.00028
|
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
|
NM_001267550.2(TTN):c.75762G>T (p.Val25254=)
|
rs374003257
|
0.00028
|
|
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)
|
rs368686031
|
0.00028
|
|
NM_001382567.1(STIM1):c.386-11T>C
|
rs368922449
|
0.00028
|
|
NM_001458.5(FLNC):c.5374G>A (p.Ala1792Thr)
|
rs201348102
|
0.00028
|
|
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln)
|
rs367658663
|
0.00028
|
|
NM_001927.4(DES):c.640-16G>A
|
rs181712657
|
0.00028
|
|
NM_003283.6(TNNT1):c.106+7G>A
|
rs990953458
|
0.00028
|
|
NM_004281.4(BAG3):c.771C>T (p.Pro257=)
|
rs200212999
|
0.00028
|
|
NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr)
|
rs374267444
|
0.00028
|
|
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=)
|
rs114144694
|
0.00028
|
|
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp)
|
rs151094883
|
0.00028
|
|
NM_020451.3(SELENON):c.1092+16G>C
|
rs199937216
|
0.00028
|
|
NM_020451.3(SELENON):c.4G>T (p.Gly2Cys)
|
rs982364753
|
0.00028
|
|
NM_032790.4(ORAI1):c.114G>C (p.Glu38Asp)
|
rs1226204743
|
0.00028
|
|
NM_138638.5(CFL2):c.441G>A (p.Ser147=)
|
rs145938782
|
0.00028
|
|
NM_198271.5(LMOD3):c.506C>T (p.Thr169Met)
|
rs181564355
|
0.00028
|
|
NM_213720.3(CHCHD10):c.403T>C (p.Tyr135His)
|
rs145649831
|
0.00028
|
|
NM_000183.3(HADHB):c.171G>A (p.Val57=)
|
rs201804764
|
0.00027
|
|
NM_001100.4(ACTA1):c.454+11G>A
|
rs551674486
|
0.00027
|
|
NM_001100.4(ACTA1):c.549G>A (p.Ala183=)
|
rs200094415
|
0.00027
|
|
NM_001164508.2(NEB):c.24453G>A (p.Glu8151=)
|
rs372540293
|
0.00027
|
|
NM_001164508.2(NEB):c.78+18G>C
|
rs375533560
|
0.00027
|
|
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly)
|
rs183354017
|
0.00027
|
|
NM_001267550.2(TTN):c.102696C>T (p.Val34232=)
|
rs202180775
|
0.00027
|
|
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)
|
rs200866883
|
0.00027
|
|
NM_001267550.2(TTN):c.30433+15A>T
|
rs371872220
|
0.00027
|
|
NM_001267550.2(TTN):c.40223-15C>G
|
rs200619085
|
0.00027
|
|
NM_001267550.2(TTN):c.41330-7T>A
|
rs373636988
|
0.00027
|
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
|
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val)
|
rs374058726
|
0.00027
|
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
|
NM_001267550.2(TTN):c.62511T>C (p.Ser20837=)
|
rs369467841
|
0.00027
|
|
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)
|
rs183276016
|
0.00027
|
|
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=)
|
rs375538420
|
0.00027
|
|
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)
|
rs201958805
|
0.00027
|
|
NM_001458.5(FLNC):c.5220C>T (p.His1740=)
|
rs369739871
|
0.00027
|
|
NM_001843.4(CNTN1):c.1369A>G (p.Asn457Asp)
|
rs138213139
|
0.00027
|
|
NM_001848.3(COL6A1):c.1378G>A (p.Val460Ile)
|
rs375452881
|
0.00027
|
|
NM_001849.4(COL6A2):c.1765C>T (p.Leu589Phe)
|
rs375966817
|
0.00027
|
|
NM_004369.4(COL6A3):c.3445C>T (p.Arg1149Trp)
|
rs113360085
|
0.00027
|
|
NM_004369.4(COL6A3):c.7029+10C>T
|
rs376525317
|
0.00027
|
|
NM_004369.4(COL6A3):c.7113C>T (p.Gly2371=)
|
rs375729592
|
0.00027
|
|
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=)
|
rs114199044
|
0.00027
|
|
NM_004370.6(COL12A1):c.8925A>G (p.Gly2975=)
|
rs190820180
|
0.00027
|
|
NM_017534.6(MYH2):c.1305C>T (p.Tyr435=)
|
rs539415599
|
0.00027
|
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
|
NM_001164508.2(NEB):c.1257+14C>T
|
rs377047616
|
0.00026
|
|
NM_001164508.2(NEB):c.12966C>T (p.Asp4322=)
|
rs1334385911
|
0.00026
|
|
NM_001164508.2(NEB):c.2049C>G (p.Gly683=)
|
rs372609682
|
0.00026
|
|
NM_001164508.2(NEB):c.24897G>C (p.Glu8299Asp)
|
rs202145313
|
0.00026
|
|
NM_001164508.2(NEB):c.2540A>G (p.Asp847Gly)
|
rs375894183
|
0.00026
|
|
NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu)
|
rs149471462
|
0.00026
|
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
|
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser)
|
rs201298767
|
0.00026
|
|
NM_001267550.2(TTN):c.12204G>A (p.Glu4068=)
|
rs137896107
|
0.00026
|
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
|
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser)
|
rs377042940
|
0.00026
|
|
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)
|
rs369099681
|
0.00026
|
|
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys)
|
rs199557654
|
0.00026
|
|
NM_001267550.2(TTN):c.27593A>G (p.Gln9198Arg)
|
rs368297438
|
0.00026
|
|
NM_001267550.2(TTN):c.28170C>T (p.Leu9390=)
|
rs149910892
|
0.00026
|
|
NM_001267550.2(TTN):c.32792A>C (p.Glu10931Ala)
|
rs370498307
|
0.00026
|
|
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=)
|
rs368781863
|
0.00026
|
|
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala)
|
rs150667217
|
0.00026
|
|
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)
|
rs200042932
|
0.00026
|
|
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)
|
rs72677229
|
0.00026
|
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
|
NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser)
|
rs370809363
|
0.00026
|
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
|
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His)
|
rs367603302
|
0.00026
|
|
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro)
|
rs372541479
|
0.00026
|
|
NM_001267550.2(TTN):c.56050+20C>T
|
rs372268675
|
0.00026
|
|
NM_001267550.2(TTN):c.57263-4C>T
|
rs373552048
|
0.00026
|
|
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu)
|
rs201662134
|
0.00026
|
|
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)
|
rs368867993
|
0.00026
|
|
NM_001267550.2(TTN):c.69984G>A (p.Ala23328=)
|
rs56052239
|
0.00026
|
|
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)
|
rs370771532
|
0.00026
|
|
NM_001267550.2(TTN):c.74844G>A (p.Lys24948=)
|
rs371884545
|
0.00026
|
|
NM_001267550.2(TTN):c.78446C>G (p.Thr26149Ser)
|
rs191263181
|
0.00026
|
|
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=)
|
rs72648208
|
0.00026
|
|
NM_001267550.2(TTN):c.80424C>T (p.Gly26808=)
|
rs373341944
|
0.00026
|
|
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)
|
rs369223412
|
0.00026
|
|
NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser)
|
rs183939928
|
0.00026
|
|
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)
|
rs145133144
|
0.00026
|
|
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp)
|
rs201400267
|
0.00026
|
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
|
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile)
|
rs182683829
|
0.00026
|
|
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=)
|
rs374081262
|
0.00026
|
|
NM_001378030.1(CCDC78):c.861C>T (p.Ser287=)
|
rs375625161
|
0.00026
|
|
NM_001378030.1(CCDC78):c.863G>A (p.Arg288His)
|
rs200154277
|
0.00026
|
|
NM_001458.5(FLNC):c.4097A>G (p.Asn1366Ser)
|
rs185746835
|
0.00026
|
|
NM_001458.5(FLNC):c.5284C>T (p.Arg1762Cys)
|
rs201926772
|
0.00026
|
|
NM_001458.5(FLNC):c.5311C>G (p.Pro1771Ala)
|
rs200001272
|
0.00026
|
|
NM_001458.5(FLNC):c.5367C>T (p.Ile1789=)
|
rs377214486
|
0.00026
|
|
NM_001848.3(COL6A1):c.1003-10C>T
|
rs182440627
|
0.00026
|
|
NM_001848.3(COL6A1):c.1602C>T (p.Pro534=)
|
rs143755280
|
0.00026
|
|
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg)
|
rs141605607
|
0.00026
|
|
NM_001849.4(COL6A2):c.*5G>A
|
rs377195134
|
0.00026
|
|
NM_001849.4(COL6A2):c.2423-9C>G
|
rs368725753
|
0.00026
|
|
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=)
|
rs113002150
|
0.00026
|
|
NM_001849.4(COL6A2):c.84G>A (p.Pro28=)
|
rs140890046
|
0.00026
|
|
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn)
|
rs78439745
|
0.00026
|
|
NM_004369.4(COL6A3):c.14G>A (p.Arg5Gln)
|
rs765276422
|
0.00026
|
|
NM_004369.4(COL6A3):c.1572C>T (p.Tyr524=)
|
rs115973206
|
0.00026
|
|
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)
|
rs78427077
|
0.00026
|
|
NM_004369.4(COL6A3):c.3531C>G (p.Thr1177=)
|
rs143705718
|
0.00026
|
|
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=)
|
rs115893145
|
0.00026
|
|
NM_004369.4(COL6A3):c.4900+9C>T
|
rs117345850
|
0.00026
|
|
NM_004369.4(COL6A3):c.5337G>A (p.Arg1779=)
|
rs756243022
|
0.00026
|
|
NM_004369.4(COL6A3):c.6180C>T (p.Tyr2060=)
|
rs115130936
|
0.00026
|
|
NM_004369.4(COL6A3):c.6592-16A>T
|
rs181698279
|
0.00026
|
|
NM_004369.4(COL6A3):c.7092+20T>C
|
rs115681406
|
0.00026
|
|
NM_004369.4(COL6A3):c.8966-3C>A
|
rs190667494
|
0.00026
|
|
NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=)
|
rs148821986
|
0.00026
|
|
NM_004369.4(COL6A3):c.9494-2A>G
|
rs142546062
|
0.00026
|
|
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser)
|
rs115246424
|
0.00026
|
|
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=)
|
rs200570792
|
0.00026
|
|
NM_004370.6(COL12A1):c.6256C>A (p.Gln2086Lys)
|
rs562076616
|
0.00026
|
|
NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=)
|
rs368321891
|
0.00026
|
|
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala)
|
rs138251566
|
0.00026
|
|
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr)
|
rs45577134
|
0.00026
|
|
NM_017534.6(MYH2):c.1082A>T (p.His361Leu)
|
rs139478967
|
0.00026
|
|
NM_017534.6(MYH2):c.3128C>T (p.Ser1043Phe)
|
rs200217946
|
0.00026
|
|
NM_017534.6(MYH2):c.4537+7C>T
|
rs375199452
|
0.00026
|
|
NM_032790.4(ORAI1):c.115C>T (p.Pro39Ser)
|
rs782531427
|
0.00026
|
|
NM_138638.5(CFL2):c.169G>A (p.Val57Met)
|
rs200536303
|
0.00026
|
|
NM_145064.3(STAC3):c.465A>G (p.Pro155=)
|
rs112950677
|
0.00026
|
|
NM_198271.5(LMOD3):c.1423G>A (p.Ala475Thr)
|
rs200273352
|
0.00026
|
|
NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe)
|
rs200717164
|
0.00025
|
|
NM_000036.3(AMPD1):c.1819T>C (p.Leu607=)
|
rs141900642
|
0.00025
|
|
NM_001164508.2(NEB):c.17838G>A (p.Gln5946=)
|
rs376199241
|
0.00025
|
|
NM_001164508.2(NEB):c.18948T>A (p.Asp6316Glu)
|
rs370206339
|
0.00025
|
|
NM_001164508.2(NEB):c.19157A>G (p.Glu6386Gly)
|
rs200056050
|
0.00025
|
|
NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=)
|
rs368984050
|
0.00025
|
|
NM_001267550.2(TTN):c.105482C>A (p.Thr35161Asn)
|
rs372263729
|
0.00025
|
|
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met)
|
rs199796249
|
0.00025
|
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
|
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=)
|
rs528832388
|
0.00025
|
|
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg)
|
rs368502650
|
0.00025
|
|
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)
|
rs371031259
|
0.00025
|
|
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=)
|
rs148434577
|
0.00025
|
|
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)
|
rs201674674
|
0.00025
|
|
NM_001458.5(FLNC):c.1757T>C (p.Val586Ala)
|
rs374132023
|
0.00025
|
|
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu)
|
rs200943714
|
0.00025
|
|
NM_001458.5(FLNC):c.2799C>T (p.Thr933=)
|
rs202186772
|
0.00025
|
|
NM_001458.5(FLNC):c.912C>T (p.Asp304=)
|
rs201239973
|
0.00025
|
|
NM_001848.3(COL6A1):c.1776+13C>T
|
rs201734661
|
0.00025
|
|
NM_001848.3(COL6A1):c.2694G>A (p.Thr898=)
|
rs372931456
|
0.00025
|
|
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=)
|
rs140427635
|
0.00025
|
|
NM_001848.3(COL6A1):c.957+6C>T
|
rs374926748
|
0.00025
|
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
|
NM_004281.4(BAG3):c.645C>T (p.Asn215=)
|
rs138078305
|
0.00025
|
|
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=)
|
rs368800027
|
0.00025
|
|
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His)
|
rs552651651
|
0.00025
|
|
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala)
|
rs55997127
|
0.00025
|
|
NM_007078.3(LDB3):c.1971C>T (p.Cys657=)
|
rs140552419
|
0.00025
|
|
NM_017534.6(MYH2):c.834C>T (p.Phe278=)
|
rs370416173
|
0.00025
|
|
NM_213720.3(CHCHD10):c.409+1G>A
|
rs367684804
|
0.00025
|
|
NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala)
|
rs200304547
|
0.00024
|
|
NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu)
|
rs202191938
|
0.00024
|
|
NM_001164508.2(NEB):c.25141A>C (p.Met8381Leu)
|
rs147872436
|
0.00024
|
|
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile)
|
rs202124287
|
0.00024
|
|
NM_001164508.2(NEB):c.7228-20C>T
|
rs185977475
|
0.00024
|
|
NM_001256545.2(MEGF10):c.1041C>A (p.Gly347=)
|
rs138524411
|
0.00024
|
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
|
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=)
|
rs146353237
|
0.00024
|
|
NM_001267550.2(TTN):c.17740+17T>C
|
rs369532031
|
0.00024
|
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
|
NM_001267550.2(TTN):c.35875+8T>G
|
rs192408585
|
0.00024
|
|
NM_001267550.2(TTN):c.38898T>A (p.Val12966=)
|
rs200432936
|
0.00024
|
|
NM_001267550.2(TTN):c.48461-11A>G
|
rs371040291
|
0.00024
|
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
|
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp)
|
rs151193056
|
0.00024
|
|
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)
|
rs188996850
|
0.00024
|
|
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)
|
rs79406408
|
0.00024
|
|
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=)
|
rs75948012
|
0.00024
|
|
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln)
|
rs199788826
|
0.00024
|
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
|
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)
|
rs370479059
|
0.00024
|
|
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp)
|
rs199505541
|
0.00024
|
|
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys)
|
rs202187398
|
0.00024
|
|
NM_001458.5(FLNC):c.2390-12G>A
|
rs374233889
|
0.00024
|
|
NM_001458.5(FLNC):c.2733G>A (p.Lys911=)
|
rs374135903
|
0.00024
|
|
NM_001458.5(FLNC):c.4695C>T (p.Asp1565=)
|
rs769871754
|
0.00024
|
|
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys)
|
rs200792813
|
0.00024
|
|
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=)
|
rs373535692
|
0.00024
|
|
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln)
|
rs148962954
|
0.00024
|
|
NM_001849.4(COL6A2):c.1605C>T (p.Pro535=)
|
rs377476546
|
0.00024
|
|
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=)
|
rs150716220
|
0.00024
|
|
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys)
|
rs113017484
|
0.00024
|
|
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys)
|
rs117749531
|
0.00024
|
|
NM_004369.4(COL6A3):c.1538G>A (p.Arg513Gln)
|
rs139498556
|
0.00024
|
|
NM_004369.4(COL6A3):c.3680-4G>A
|
rs376123972
|
0.00024
|
|
NM_004369.4(COL6A3):c.7114G>A (p.Asp2372Asn)
|
rs142002241
|
0.00024
|
|
NM_004369.4(COL6A3):c.7513G>A (p.Gly2505Arg)
|
rs545819982
|
0.00024
|
|
NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His)
|
rs201888442
|
0.00024
|
|
NM_004370.6(COL12A1):c.3534C>T (p.Ser1178=)
|
rs747982811
|
0.00024
|
|
NM_004370.6(COL12A1):c.5677G>A (p.Gly1893Arg)
|
rs373739940
|
0.00024
|
|
NM_004370.6(COL12A1):c.6068-17G>T
|
rs200347973
|
0.00024
|
|
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val)
|
rs369104842
|
0.00024
|
|
NM_006063.3(KLHL41):c.1110+19A>G
|
rs369566057
|
0.00024
|
|
NM_007078.3(LDB3):c.1503C>T (p.Ala501=)
|
rs147692024
|
0.00024
|
|
NM_007078.3(LDB3):c.1606G>A (p.Val536Ile)
|
rs113817827
|
0.00024
|
|
NM_017534.6(MYH2):c.5346C>T (p.Ser1782=)
|
rs199864744
|
0.00024
|
|
NM_145064.3(STAC3):c.221A>G (p.Glu74Gly)
|
rs199716296
|
0.00024
|
|
NM_152393.4(KLHL40):c.277G>C (p.Glu93Gln)
|
rs202061995
|
0.00024
|
|
NM_198859.4(PRICKLE2):c.396+20A>C
|
rs200795972
|
0.00024
|
|
NM_001101362.3(KBTBD13):c.880C>G (p.Pro294Ala)
|
rs560695692
|
0.00023
|
|
NM_001164507.2(NEB):c.21387G>C (p.Leu7129=)
|
rs200792421
|
0.00023
|
|
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser)
|
rs77826191
|
0.00023
|
|
NM_001164508.2(NEB):c.2343G>A (p.Lys781=)
|
rs191610670
|
0.00023
|
|
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=)
|
rs35016946
|
0.00023
|
|
NM_001164508.2(NEB):c.5520C>T (p.Asp1840=)
|
rs555782688
|
0.00023
|
|
NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr)
|
rs145733370
|
0.00023
|
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
|
NM_001267550.2(TTN):c.11388A>G (p.Glu3796=)
|
rs367821213
|
0.00023
|
|
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys)
|
rs201810836
|
0.00023
|
|
NM_001267550.2(TTN):c.34354G>A (p.Val11452Met)
|
rs938988662
|
0.00023
|
|
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=)
|
rs372635204
|
0.00023
|
|
NM_001267550.2(TTN):c.59344+3G>A
|
rs142095604
|
0.00023
|
|
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly)
|
rs202032875
|
0.00023
|
|
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)
|
rs377016580
|
0.00023
|
|
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His)
|
rs199781261
|
0.00023
|
|
NM_001267550.2(TTN):c.98118T>C (p.Leu32706=)
|
rs72648269
|
0.00023
|
|
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
|
NM_001458.5(FLNC):c.1026C>T (p.Pro342=)
|
rs200633995
|
0.00023
|
|
NM_001458.5(FLNC):c.1434C>T (p.Arg478=)
|
rs201810745
|
0.00023
|
|
NM_001843.4(CNTN1):c.2524-11A>T
|
rs141066737
|
0.00023
|
|
NM_001848.3(COL6A1):c.2464+19G>A
|
rs200297915
|
0.00023
|
|
NM_003283.6(TNNT1):c.501+16G>A
|
rs756579163
|
0.00023
|
|
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)
|
rs375673671
|
0.00023
|
|
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His)
|
rs200450866
|
0.00023
|
|
NM_006063.3(KLHL41):c.1756C>T (p.Arg586Cys)
|
rs28763871
|
0.00023
|
|
NM_139343.3(BIN1):c.402C>T (p.Pro134=)
|
rs144136512
|
0.00023
|
|
NM_198271.5(LMOD3):c.1667C>A (p.Pro556Gln)
|
rs201205115
|
0.00023
|
|
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=)
|
rs144338942
|
0.00023
|
|
NM_000036.3(AMPD1):c.22+15T>A
|
rs371487865
|
0.00022
|
|
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg)
|
rs150430628
|
0.00022
|
|
NM_001164508.2(NEB):c.17845-5G>A
|
rs373390654
|
0.00022
|
|
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)
|
rs201189784
|
0.00022
|
|
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val)
|
rs200637566
|
0.00022
|
|
NM_001164508.2(NEB):c.4398A>G (p.Ala1466=)
|
rs368136951
|
0.00022
|
|
NM_001164508.2(NEB):c.492G>A (p.Ser164=)
|
rs371015050
|
0.00022
|
|
NM_001164508.2(NEB):c.9139C>A (p.His3047Asn)
|
rs147168910
|
0.00022
|
|
NM_001256545.2(MEGF10):c.877A>G (p.Thr293Ala)
|
rs144187055
|
0.00022
|
|
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)
|
rs183336802
|
0.00022
|
|
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln)
|
rs199710082
|
0.00022
|
|
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val)
|
rs142336788
|
0.00022
|
|
NM_001267550.2(TTN):c.107377+14C>T
|
rs367908657
|
0.00022
|
|
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=)
|
rs192857526
|
0.00022
|
|
NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln)
|
rs200018866
|
0.00022
|
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
|
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile)
|
rs367854582
|
0.00022
|
|
NM_001267550.2(TTN):c.27625A>G (p.Lys9209Glu)
|
rs148355969
|
0.00022
|
|
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn)
|
rs371759532
|
0.00022
|
|
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)
|
rs200952728
|
0.00022
|
|
NM_001267550.2(TTN):c.33826+17T>A
|
rs199586235
|
0.00022
|
|
NM_001267550.2(TTN):c.33911-6_33911-5insG
|
rs765503214
|
0.00022
|
|
NM_001267550.2(TTN):c.40123G>A (p.Glu13375Lys)
|
rs988844595
|
0.00022
|
|
NM_001267550.2(TTN):c.54811+15G>A
|
rs201450276
|
0.00022
|
|
NM_001267550.2(TTN):c.70817T>C (p.Met23606Thr)
|
rs371030086
|
0.00022
|
|
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)
|
rs189030321
|
0.00022
|
|
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=)
|
rs183620684
|
0.00022
|
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
|
NM_001378030.1(CCDC78):c.866A>T (p.Glu289Val)
|
rs371760552
|
0.00022
|
|
NM_001382567.1(STIM1):c.458C>T (p.Thr153Ile)
|
rs144602692
|
0.00022
|
|
NM_001458.5(FLNC):c.7353G>A (p.Val2451=)
|
rs368607789
|
0.00022
|
|
NM_001843.4(CNTN1):c.54T>C (p.Cys18=)
|
rs149203149
|
0.00022
|
|
NM_001848.3(COL6A1):c.1233C>T (p.Asp411=)
|
rs140478280
|
0.00022
|
|
NM_001849.4(COL6A2):c.1762G>A (p.Gly588Ser)
|
rs139488626
|
0.00022
|
|
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=)
|
rs375909800
|
0.00022
|
|
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=)
|
rs115551245
|
0.00022
|
|
NM_004370.6(COL12A1):c.1892-7_1892-6insC
|
rs34433354
|
0.00022
|
|
NM_004370.6(COL12A1):c.4815G>A (p.Glu1605=)
|
rs567079114
|
0.00022
|
|
NM_004370.6(COL12A1):c.7800A>G (p.Thr2600=)
|
rs370691983
|
0.00022
|
|
NM_004370.6(COL12A1):c.823+20T>C
|
rs534530101
|
0.00022
|
|
NM_006063.3(KLHL41):c.1578C>T (p.Thr526=)
|
rs562170123
|
0.00022
|
|
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile)
|
rs200796750
|
0.00022
|
|
NM_017534.6(MYH2):c.4442G>A (p.Arg1481His)
|
rs199751037
|
0.00022
|
|
NM_020451.3(SELENON):c.1603-14G>A
|
rs370300935
|
0.00022
|
|
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)
|
rs371720347
|
0.00022
|
|
NM_152393.4(KLHL40):c.1640G>A (p.Arg547His)
|
rs144187563
|
0.00022
|
|
NM_152393.4(KLHL40):c.197C>G (p.Pro66Arg)
|
rs200810691
|
0.00022
|
|
NM_152393.4(KLHL40):c.643C>T (p.Arg215Cys)
|
rs376618797
|
0.00022
|
|
NM_000182.5(HADHA):c.1621-19A>G
|
rs372878267
|
0.00021
|
|
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
|
rs375399631
|
0.00021
|
|
NM_000183.3(HADHB):c.64+15del
|
rs771594408
|
0.00021
|
|
NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile)
|
rs189232206
|
0.00021
|
|
NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr)
|
rs191722579
|
0.00021
|
|
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys)
|
rs202050860
|
0.00021
|
|
NM_001164508.2(NEB):c.23242-15G>A
|
rs370467068
|
0.00021
|
|
NM_001164508.2(NEB):c.9178A>G (p.Met3060Val)
|
rs538524863
|
0.00021
|
|
NM_001267550.2(TTN):c.101055T>C (p.Asp33685=)
|
rs372788551
|
0.00021
|
|
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=)
|
rs201129413
|
0.00021
|
|
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys)
|
rs376593556
|
0.00021
|
|
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)
|
rs201263441
|
0.00021
|
|
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=)
|
rs376744914
|
0.00021
|
|
NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val)
|
rs376613199
|
0.00021
|
|
NM_001267550.2(TTN):c.33743-15T>C
|
rs112313732
|
0.00021
|
|
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)
|
rs201035457
|
0.00021
|
|
NM_001267550.2(TTN):c.40634-10T>A
|
rs375097334
|
0.00021
|
|
NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu)
|
rs200700386
|
0.00021
|
|
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu)
|
rs201581947
|
0.00021
|
|
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys)
|
rs201510986
|
0.00021
|
|
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser)
|
rs191927501
|
0.00021
|
|
NM_001267550.2(TTN):c.59026G>T (p.Asp19676Tyr)
|
rs186215280
|
0.00021
|
|
NM_001267550.2(TTN):c.62280T>C (p.Val20760=)
|
rs372065796
|
0.00021
|
|
NM_001267550.2(TTN):c.62424C>T (p.Asp20808=)
|
rs374472044
|
0.00021
|
|
NM_001267550.2(TTN):c.62567A>G (p.Tyr20856Cys)
|
rs373867080
|
0.00021
|
|
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)
|
rs145039979
|
0.00021
|
|
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=)
|
rs72647883
|
0.00021
|
|
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser)
|
rs187460377
|
0.00021
|
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00021
|
|
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu)
|
rs190967471
|
0.00021
|
|
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys)
|
rs374983276
|
0.00021
|
|
NM_001458.5(FLNC):c.5889G>A (p.Thr1963=)
|
rs374743518
|
0.00021
|
|
NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn)
|
rs371244800
|
0.00021
|
|
NM_001848.3(COL6A1):c.1254C>T (p.Asp418=)
|
rs148630223
|
0.00021
|
|
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp)
|
rs368561027
|
0.00021
|
|
NM_001848.3(COL6A1):c.958-10C>T
|
rs200508160
|
0.00021
|
|
NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys)
|
rs200667230
|
0.00021
|
|
NM_001849.4(COL6A2):c.1767C>T (p.Leu589=)
|
rs528635866
|
0.00021
|
|
NM_001849.4(COL6A2):c.2422+16C>T
|
rs372990656
|
0.00021
|
|
NM_001849.4(COL6A2):c.2528G>A (p.Arg843Gln)
|
rs201736323
|
0.00021
|
|
NM_001849.4(COL6A2):c.2761G>A (p.Val921Met)
|
rs398123650
|
0.00021
|
|
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys)
|
rs201188174
|
0.00021
|
|
NM_001927.4(DES):c.166G>C (p.Val56Leu)
|
rs578066781
|
0.00021
|
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00021
|
|
NM_004281.4(BAG3):c.1674G>A (p.Ala558=)
|
rs142981190
|
0.00021
|
|
NM_004281.4(BAG3):c.471G>A (p.Ala157=)
|
rs148985314
|
0.00021
|
|
NM_004369.4(COL6A3):c.1373T>A (p.Leu458Gln)
|
rs374134397
|
0.00021
|
|
NM_004369.4(COL6A3):c.2231C>T (p.Pro744Leu)
|
rs199504304
|
0.00021
|
|
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)
|
rs114284669
|
0.00021
|
|
NM_004369.4(COL6A3):c.759C>T (p.Thr253=)
|
rs376087730
|
0.00021
|
|
NM_004370.6(COL12A1):c.4452T>C (p.Asp1484=)
|
rs202092920
|
0.00021
|
|
NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala)
|
rs200034130
|
0.00021
|
|
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)
|
rs191233787
|
0.00021
|
|
NM_006063.3(KLHL41):c.206C>T (p.Ala69Val)
|
rs151212497
|
0.00021
|
|
NM_017534.6(MYH2):c.5355G>T (p.Leu1785=)
|
rs113280351
|
0.00021
|
|
NM_020451.3(SELENON):c.1041C>T (p.Tyr347=)
|
rs113867228
|
0.00021
|
|
NM_139343.3(BIN1):c.1131+7C>T
|
rs376590911
|
0.00021
|
|
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg)
|
rs557276019
|
0.00021
|
|
NM_152393.4(KLHL40):c.97C>T (p.Leu33Phe)
|
rs138075372
|
0.00021
|
|
NM_198271.5(LMOD3):c.147C>T (p.Pro49=)
|
rs184423475
|
0.00021
|
|
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr)
|
rs138966725
|
0.00020
|
|
NM_000182.5(HADHA):c.864A>G (p.Glu288=)
|
rs372425837
|
0.00020
|
|
NM_001101362.3(KBTBD13):c.769G>C (p.Asp257His)
|
rs568675071
|
0.00020
|
|
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=)
|
rs144673752
|
0.00020
|
|
NM_001164508.2(NEB):c.1569C>T (p.Asp523=)
|
rs200758495
|
0.00020
|
|
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu)
|
rs368912483
|
0.00020
|
|
NM_001164508.2(NEB):c.21371G>A (p.Arg7124His)
|
rs201094791
|
0.00020
|
|
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu)
|
rs368302286
|
0.00020
|
|
NM_001256545.2(MEGF10):c.412+17T>A
|
rs149172487
|
0.00020
|
|
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile)
|
rs200430493
|
0.00020
|
|
NM_001267550.2(TTN):c.10977G>A (p.Ala3659=)
|
rs369327691
|
0.00020
|
|
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser)
|
rs72648922
|
0.00020
|
|
NM_001267550.2(TTN):c.14697C>T (p.Ser4899=)
|
rs372740215
|
0.00020
|
|
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe)
|
rs201029552
|
0.00020
|
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00020
|
|
NM_001267550.2(TTN):c.37193C>T (p.Pro12398Leu)
|
rs570730533
|
0.00020
|
|
NM_001267550.2(TTN):c.38001G>A (p.Ser12667=)
|
rs201179474
|
0.00020
|
|
NM_001267550.2(TTN):c.48460+5G>A
|
rs374413644
|
0.00020
|
|
NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile)
|
rs367816473
|
0.00020
|
|
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)
|
rs200726948
|
0.00020
|
|
NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys)
|
rs376870149
|
0.00020
|
|
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)
|
rs202149931
|
0.00020
|
|
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr)
|
rs72648219
|
0.00020
|
|
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)
|
rs201831707
|
0.00020
|
|
NM_001378030.1(CCDC78):c.1053+20G>A
|
rs200002179
|
0.00020
|
|
NM_001382567.1(STIM1):c.1128C>T (p.Ala376=)
|
rs200375470
|
0.00020
|
|
NM_001458.5(FLNC):c.2128G>A (p.Asp710Asn)
|
rs370035829
|
0.00020
|
|
NM_001848.3(COL6A1):c.2601C>T (p.Pro867=)
|
rs200124802
|
0.00020
|
|
NM_001848.3(COL6A1):c.2733C>T (p.Asn911=)
|
rs144585693
|
0.00020
|
|
NM_001849.4(COL6A2):c.1130G>A (p.Arg377His)
|
rs148552966
|
0.00020
|
|
NM_001849.4(COL6A2):c.1522-20G>A
|
rs368072665
|
0.00020
|
|
NM_001849.4(COL6A2):c.759A>G (p.Glu253=)
|
rs140404854
|
0.00020
|
|
NM_001849.4(COL6A2):c.933A>T (p.Glu311Asp)
|
rs370624136
|
0.00020
|
|
NM_006063.3(KLHL41):c.291T>C (p.Asp97=)
|
rs537913427
|
0.00020
|
|
NM_007078.3(LDB3):c.1911G>A (p.Ala637=)
|
rs150710377
|
0.00020
|
|
NM_017534.6(MYH2):c.2332C>T (p.Leu778Phe)
|
rs751563313
|
0.00020
|
|
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)
|
rs398124359
|
0.00020
|
|
NM_152263.4(TPM3):c.804C>T (p.Tyr268=)
|
rs762511246
|
0.00020
|
|
NM_198271.5(LMOD3):c.1664T>A (p.Leu555Gln)
|
rs377612351
|
0.00020
|
|
NM_000036.3(AMPD1):c.1800+16T>C
|
rs374741261
|
0.00019
|
|
NM_000116.5(TAFAZZIN):c.584-7del
|
rs782192927
|
0.00019
|
|
NM_000182.5(HADHA):c.2215G>C (p.Ala739Pro)
|
rs141164185
|
0.00019
|
|
NM_001100.4(ACTA1):c.546G>A (p.Leu182=)
|
rs369670582
|
0.00019
|
|
NM_001101362.3(KBTBD13):c.1372C>T (p.Leu458=)
|
rs959915743
|
0.00019
|
|
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn)
|
rs567309902
|
0.00019
|
|
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met)
|
rs201462794
|
0.00019
|
|
NM_001164508.2(NEB):c.19295A>G (p.Gln6432Arg)
|
rs189912759
|
0.00019
|
|
NM_001164508.2(NEB):c.19326G>C (p.Arg6442=)
|
rs779349365
|
0.00019
|
|
NM_001164508.2(NEB):c.19482C>T (p.Pro6494=)
|
rs200333206
|
0.00019
|
|
NM_001164508.2(NEB):c.25359A>C (p.Gln8453His)
|
rs377748897
|
0.00019
|
|
NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser)
|
rs199903114
|
0.00019
|
|
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=)
|
rs148794372
|
0.00019
|
|
NM_001164508.2(NEB):c.5225T>G (p.Leu1742Arg)
|
rs202113159
|
0.00019
|
|
NM_001164508.2(NEB):c.9067G>A (p.Val3023Met)
|
rs377375638
|
0.00019
|
|
NM_001164508.2(NEB):c.9866G>A (p.Gly3289Asp)
|
rs371490023
|
0.00019
|
|
NM_001256545.2(MEGF10):c.807C>T (p.Pro269=)
|
rs146742773
|
0.00019
|
|
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His)
|
rs374876608
|
0.00019
|
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
|
NM_001267550.2(TTN):c.101262A>G (p.Gly33754=)
|
rs374878689
|
0.00019
|
|
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp)
|
rs201421156
|
0.00019
|
|
NM_001267550.2(TTN):c.104690C>T (p.Ser34897Leu)
|
rs373446383
|
0.00019
|
|
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His)
|
rs370137295
|
0.00019
|
|
NM_001267550.2(TTN):c.105920T>C (p.Val35307Ala)
|
rs780629996
|
0.00019
|
|
NM_001267550.2(TTN):c.14424G>C (p.Val4808=)
|
rs374479775
|
0.00019
|
|
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro)
|
rs375177753
|
0.00019
|
|
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His)
|
rs181067357
|
0.00019
|
|
NM_001267550.2(TTN):c.22653T>C (p.Asp7551=)
|
rs371736246
|
0.00019
|
|
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=)
|
rs371447978
|
0.00019
|
|
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)
|
rs72647868
|
0.00019
|
|
NM_001267550.2(TTN):c.31922C>T (p.Pro10641Leu)
|
rs773886361
|
0.00019
|
|
NM_001267550.2(TTN):c.32780A>G (p.Lys10927Arg)
|
rs373657520
|
0.00019
|
|
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)
|
rs376874956
|
0.00019
|
|
NM_001267550.2(TTN):c.38380+10C>T
|
rs200802296
|
0.00019
|
|
NM_001267550.2(TTN):c.38707+7G>C
|
rs752801232
|
0.00019
|
|
NM_001267550.2(TTN):c.39127+10A>C
|
rs397517554
|
0.00019
|
|
NM_001267550.2(TTN):c.39548-8A>G
|
rs369594816
|
0.00019
|
|
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser)
|
rs186404793
|
0.00019
|
|
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)
|
rs368820294
|
0.00019
|
|
NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile)
|
rs372778818
|
0.00019
|
|
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile)
|
rs377682563
|
0.00019
|
|
NM_001267550.2(TTN):c.6714G>A (p.Thr2238=)
|
rs774836314
|
0.00019
|
|
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)
|
rs200797552
|
0.00019
|
|
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=)
|
rs148210834
|
0.00019
|
|
NM_001267550.2(TTN):c.78064G>A (p.Val26022Ile)
|
rs374764110
|
0.00019
|
|
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)
|
rs199646089
|
0.00019
|
|
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)
|
rs201837864
|
0.00019
|
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
|
NM_001267550.2(TTN):c.85951C>T (p.Leu28651=)
|
rs190729405
|
0.00019
|
|
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=)
|
rs76928874
|
0.00019
|
|
NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser)
|
rs377612718
|
0.00019
|
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
|
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)
|
rs141258018
|
0.00019
|
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
|
NM_001267550.2(TTN):c.95450T>C (p.Val31817Ala)
|
rs758207460
|
0.00019
|
|
NM_001267550.2(TTN):c.97578C>T (p.Asp32526=)
|
rs142907833
|
0.00019
|
|
NM_001378030.1(CCDC78):c.927G>A (p.Arg309=)
|
rs376047604
|
0.00019
|
|
NM_001458.5(FLNC):c.1354G>A (p.Val452Met)
|
rs192163925
|
0.00019
|
|
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)
|
rs369387744
|
0.00019
|
|
NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp)
|
rs200215340
|
0.00019
|
|
NM_001458.5(FLNC):c.3790+5G>A
|
rs199917473
|
0.00019
|
|
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln)
|
rs199804244
|
0.00019
|
|
NM_001458.5(FLNC):c.4125C>T (p.Thr1375=)
|
rs191931963
|
0.00019
|
|
NM_001458.5(FLNC):c.4127+9C>T
|
rs368729011
|
0.00019
|
|
NM_001848.3(COL6A1):c.1379T>C (p.Val460Ala)
|
rs140735590
|
0.00019
|
|
NM_001848.3(COL6A1):c.1611C>T (p.Asn537=)
|
rs200023632
|
0.00019
|
|
NM_001848.3(COL6A1):c.759+16G>A
|
rs373366336
|
0.00019
|
|
NM_001849.4(COL6A2):c.2410G>A (p.Val804Ile)
|
rs199896699
|
0.00019
|
|
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr)
|
rs199606147
|
0.00019
|
|
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=)
|
rs149845431
|
0.00019
|
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
|
NM_002469.3(MYF6):c.184G>A (p.Val62Ile)
|
rs190471225
|
0.00019
|
|
NM_003283.6(TNNT1):c.156G>A (p.Pro52=)
|
rs369149321
|
0.00019
|
|
NM_003283.6(TNNT1):c.580G>A (p.Asp194Asn)
|
rs141774400
|
0.00019
|
|
NM_004168.4(SDHA):c.1569T>C (p.Ala523=)
|
rs150192376
|
0.00019
|
|
NM_004369.4(COL6A3):c.1065C>T (p.Ala355=)
|
rs115155458
|
0.00019
|
|
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met)
|
rs144976132
|
0.00019
|
|
NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=)
|
rs114791158
|
0.00019
|
|
NM_004369.4(COL6A3):c.8307C>T (p.Phe2769=)
|
rs149890179
|
0.00019
|
|
NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=)
|
rs144291325
|
0.00019
|
|
NM_004369.4(COL6A3):c.9494-7C>T
|
rs374024399
|
0.00019
|
|
NM_004370.6(COL12A1):c.1644C>A (p.Ile548=)
|
rs147111006
|
0.00019
|
|
NM_004370.6(COL12A1):c.3943G>A (p.Asp1315Asn)
|
rs185615367
|
0.00019
|
|
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)
|
rs142416150
|
0.00019
|
|
NM_017534.6(MYH2):c.3058G>C (p.Glu1020Gln)
|
rs150248342
|
0.00019
|
|
NM_017534.6(MYH2):c.4258C>T (p.Leu1420Phe)
|
rs187438258
|
0.00019
|
|
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr)
|
rs139691540
|
0.00019
|
|
NM_017534.6(MYH2):c.4972-15T>C
|
rs566344021
|
0.00019
|
|
NM_133378.4(TTN):c.19928-7C>T
|
rs771244164
|
0.00019
|
|
NM_152263.4(TPM3):c.249G>A (p.Glu83=)
|
rs149765446
|
0.00019
|
|
NM_152393.4(KLHL40):c.1681G>A (p.Ala561Thr)
|
rs142487510
|
0.00019
|
|
NM_152393.4(KLHL40):c.1848G>A (p.Leu616=)
|
rs141654883
|
0.00019
|
|
NM_152393.4(KLHL40):c.413G>C (p.Arg138Pro)
|
rs142285083
|
0.00019
|
|
NM_198859.4(PRICKLE2):c.1962G>A (p.Leu654=)
|
rs367685080
|
0.00019
|
|
NM_198859.4(PRICKLE2):c.635G>A (p.Gly212Glu)
|
rs779069863
|
0.00019
|
|
NM_001101362.3(KBTBD13):c.1305C>T (p.Ser435=)
|
rs777830269
|
0.00018
|
|
NM_001164508.2(NEB):c.10258C>T (p.Arg3420Cys)
|
rs201596787
|
0.00018
|
|
NM_001164508.2(NEB):c.17061C>G (p.Val5687=)
|
rs199756204
|
0.00018
|
|
NM_001164508.2(NEB):c.19550G>A (p.Arg6517His)
|
rs149596493
|
0.00018
|
|
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys)
|
rs115623365
|
0.00018
|
|
NM_001164508.2(NEB):c.21491G>A (p.Arg7164His)
|
rs16830171
|
0.00018
|
|
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu)
|
rs199957886
|
0.00018
|
|
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr)
|
rs199937246
|
0.00018
|
|
NM_001164508.2(NEB):c.2638-19G>C
|
rs750188445
|
0.00018
|
|
NM_001164508.2(NEB):c.3964G>T (p.Ala1322Ser)
|
rs376611641
|
0.00018
|
|
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro)
|
rs183667452
|
0.00018
|
|
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser)
|
rs543100735
|
0.00018
|
|
NM_001256545.2(MEGF10):c.3232+10C>T
|
rs113861962
|
0.00018
|
|
NM_001256545.2(MEGF10):c.413-5C>T
|
rs372710875
|
0.00018
|
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
|
NM_001267550.2(TTN):c.107681-18T>G
|
rs753667942
|
0.00018
|
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
|
NM_001267550.2(TTN):c.22383C>T (p.Asp7461=)
|
rs376383610
|
0.00018
|
|
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys)
|
rs201653851
|
0.00018
|
|
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=)
|
rs569860898
|
0.00018
|
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
|
NM_001267550.2(TTN):c.30511+3G>A
|
rs563582627
|
0.00018
|
|
NM_001267550.2(TTN):c.31422G>A (p.Val10474=)
|
rs72650020
|
0.00018
|
|
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=)
|
rs372124201
|
0.00018
|
|
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp)
|
rs201991864
|
0.00018
|
|
NM_001267550.2(TTN):c.36847A>C (p.Lys12283Gln)
|
rs1479390801
|
0.00018
|
|
NM_001267550.2(TTN):c.38123-8C>A
|
rs1481421931
|
0.00018
|
|
NM_001267550.2(TTN):c.38627-16A>G
|
rs1014728001
|
0.00018
|
|
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=)
|
rs775954427
|
0.00018
|
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
|
NM_001267550.2(TTN):c.54771C>T (p.Pro18257=)
|
rs190716158
|
0.00018
|
|
NM_001267550.2(TTN):c.55205T>G (p.Ile18402Ser)
|
rs776899398
|
0.00018
|
|
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=)
|
rs377164046
|
0.00018
|
|
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys)
|
rs371973579
|
0.00018
|
|
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp)
|
rs200728232
|
0.00018
|
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
|
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)
|
rs200775919
|
0.00018
|
|
NM_001267550.2(TTN):c.84968A>T (p.Tyr28323Phe)
|
rs1285180382
|
0.00018
|
|
NM_001267550.2(TTN):c.88134A>G (p.Pro29378=)
|
rs374612925
|
0.00018
|
|
NM_001267550.2(TTN):c.91815T>G (p.Ser30605=)
|
rs571605213
|
0.00018
|
|
NM_001267550.2(TTN):c.95961C>T (p.Ala31987=)
|
rs369405564
|
0.00018
|
|
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)
|
rs376532382
|
0.00018
|
|
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)
|
rs369626133
|
0.00018
|
|
NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro)
|
rs542208825
|
0.00018
|
|
NM_001458.5(FLNC):c.5143G>A (p.Val1715Ile)
|
rs200178370
|
0.00018
|
|
NM_001458.5(FLNC):c.6720G>A (p.Gln2240=)
|
rs371391208
|
0.00018
|
|
NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser)
|
rs201917318
|
0.00018
|
|
NM_001848.3(COL6A1):c.2662C>T (p.Arg888Trp)
|
rs368307185
|
0.00018
|
|
NM_001848.3(COL6A1):c.696C>T (p.Ile232=)
|
rs139148709
|
0.00018
|
|
NM_001849.4(COL6A2):c.1599C>T (p.Arg533=)
|
rs373635709
|
0.00018
|
|
NM_001849.4(COL6A2):c.1674G>A (p.Ala558=)
|
rs144334894
|
0.00018
|
|
NM_001849.4(COL6A2):c.2907G>A (p.Val969=)
|
rs138004735
|
0.00018
|
|
NM_001849.4(COL6A2):c.828G>A (p.Pro276=)
|
rs140790797
|
0.00018
|
|
NM_001927.4(DES):c.1288+20C>T
|
rs200657337
|
0.00018
|
|
NM_003283.6(TNNT1):c.87G>A (p.Pro29=)
|
rs930840597
|
0.00018
|
|
NM_004369.4(COL6A3):c.9344C>T (p.Pro3115Leu)
|
rs138109666
|
0.00018
|
|
NM_004370.6(COL12A1):c.5251+14T>C
|
rs188210409
|
0.00018
|
|
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln)
|
rs200091648
|
0.00018
|
|
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln)
|
rs182768408
|
0.00018
|
|
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val)
|
rs141569007
|
0.00018
|
|
NM_017534.6(MYH2):c.1729G>A (p.Glu577Lys)
|
rs564509544
|
0.00018
|
|
NM_017534.6(MYH2):c.2405T>A (p.Leu802Ter)
|
rs758395765
|
0.00018
|
|
NM_017534.6(MYH2):c.3531C>T (p.Phe1177=)
|
rs148640299
|
0.00018
|
|
NM_017534.6(MYH2):c.533+6T>G
|
rs545924178
|
0.00018
|
|
NM_020451.3(SELENON):c.980G>A (p.Arg327His)
|
rs556232275
|
0.00018
|
|
NM_139343.3(BIN1):c.1143G>A (p.Pro381=)
|
rs372360787
|
0.00018
|
|
NM_139343.3(BIN1):c.316-19G>A
|
rs369840788
|
0.00018
|
|
NM_000182.5(HADHA):c.2146+18G>A
|
rs200961004
|
0.00017
|
|
NM_000252.3(MTM1):c.867+17A>G
|
rs371239013
|
0.00017
|
|
NM_001164508.2(NEB):c.144C>T (p.Ser48=)
|
rs373652428
|
0.00017
|
|
NM_001164508.2(NEB):c.20355C>T (p.Asp6785=)
|
rs140323673
|
0.00017
|
|
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys)
|
rs770023115
|
0.00017
|
|
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys)
|
rs200555425
|
0.00017
|
|
NM_001164508.2(NEB):c.6291A>G (p.Gln2097=)
|
rs753864118
|
0.00017
|
|
NM_001164508.2(NEB):c.6486A>G (p.Ile2162Met)
|
rs370994522
|
0.00017
|
|
NM_001164508.2(NEB):c.6807+10T>C
|
rs375723456
|
0.00017
|
|
NM_001164508.2(NEB):c.7778T>C (p.Phe2593Ser)
|
rs370615288
|
0.00017
|
|
NM_001256545.2(MEGF10):c.2980+16G>A
|
rs374003413
|
0.00017
|
|
NM_001267550.2(TTN):c.101708G>A (p.Arg33903His)
|
rs72629782
|
0.00017
|
|
NM_001267550.2(TTN):c.11109C>T (p.Ser3703=)
|
rs879160199
|
0.00017
|
|
NM_001267550.2(TTN):c.111G>C (p.Val37=)
|
rs373923523
|
0.00017
|
|
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn)
|
rs373378672
|
0.00017
|
|
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val)
|
rs146690035
|
0.00017
|
|
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro)
|
rs201065037
|
0.00017
|
|
NM_001267550.2(TTN):c.27846C>T (p.Ser9282=)
|
rs182355009
|
0.00017
|
|
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp)
|
rs577066020
|
0.00017
|
|
NM_001267550.2(TTN):c.30683-19T>C
|
rs768856856
|
0.00017
|
|
NM_001267550.2(TTN):c.40352C>A (p.Pro13451His)
|
rs370048456
|
0.00017
|
|
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys)
|
rs148018042
|
0.00017
|
|
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val)
|
rs370644359
|
0.00017
|
|
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys)
|
rs55734111
|
0.00017
|
|
NM_001267550.2(TTN):c.54597T>C (p.Thr18199=)
|
rs879170876
|
0.00017
|
|
NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile)
|
rs375141729
|
0.00017
|
|
NM_001267550.2(TTN):c.58727G>A (p.Arg19576His)
|
rs771668359
|
0.00017
|
|
NM_001267550.2(TTN):c.5895T>C (p.Asp1965=)
|
rs186005100
|
0.00017
|
|
NM_001267550.2(TTN):c.65575+10T>C
|
rs72646864
|
0.00017
|
|
NM_001267550.2(TTN):c.68527+15G>A
|
rs184043128
|
0.00017
|
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
|
NM_001267550.2(TTN):c.76402G>T (p.Val25468Leu)
|
rs200308639
|
0.00017
|
|
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)
|
rs376814602
|
0.00017
|
|
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn)
|
rs200697681
|
0.00017
|
|
NM_001267550.2(TTN):c.89936C>T (p.Thr29979Ile)
|
rs779619858
|
0.00017
|
|
NM_001378030.1(CCDC78):c.766-9C>T
|
rs199893871
|
0.00017
|
|
NM_001458.5(FLNC):c.1657G>A (p.Gly553Ser)
|
rs201572079
|
0.00017
|
|
NM_001458.5(FLNC):c.3510C>T (p.Val1170=)
|
rs745571747
|
0.00017
|
|
NM_001458.5(FLNC):c.6888C>T (p.His2296=)
|
rs375259002
|
0.00017
|
|
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile)
|
rs372750707
|
0.00017
|
|
NM_001848.3(COL6A1):c.2899A>G (p.Ile967Val)
|
rs777671647
|
0.00017
|
|
NM_001848.3(COL6A1):c.3034C>T (p.Leu1012=)
|
rs150509473
|
0.00017
|
|
NM_001848.3(COL6A1):c.409C>G (p.Leu137Val)
|
rs139648899
|
0.00017
|
|
NM_001849.4(COL6A2):c.1967C>T (p.Thr656Ile)
|
rs371386355
|
0.00017
|
|
NM_001849.4(COL6A2):c.2556C>T (p.Ala852=)
|
rs148404291
|
0.00017
|
|
NM_004168.4(SDHA):c.918C>G (p.Leu306=)
|
rs138828792
|
0.00017
|
|
NM_004281.4(BAG3):c.96G>T (p.Pro32=)
|
rs372083121
|
0.00017
|
|
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile)
|
rs199646208
|
0.00017
|
|
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)
|
rs144051775
|
0.00017
|
|
NM_004369.4(COL6A3):c.7051A>C (p.Ile2351Leu)
|
rs557448772
|
0.00017
|
|
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=)
|
rs377572272
|
0.00017
|
|
NM_004369.4(COL6A3):c.8097G>A (p.Val2699=)
|
rs115757876
|
0.00017
|
|
NM_004369.4(COL6A3):c.8464+11C>T
|
rs770508359
|
0.00017
|
|
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=)
|
rs200111289
|
0.00017
|
|
NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met)
|
rs200626456
|
0.00017
|
|
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)
|
rs115819851
|
0.00017
|
|
NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=)
|
rs377413592
|
0.00017
|
|
NM_004370.6(COL12A1):c.7354+10T>A
|
rs199945254
|
0.00017
|
|
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His)
|
rs190917891
|
0.00017
|
|
NM_006063.3(KLHL41):c.777C>T (p.Phe259=)
|
rs562502714
|
0.00017
|
|
NM_006063.3(KLHL41):c.832G>A (p.Val278Met)
|
rs150233736
|
0.00017
|
|
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln)
|
rs141801816
|
0.00017
|
|
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=)
|
rs587781024
|
0.00017
|
|
NM_007078.3(LDB3):c.1572G>A (p.Ala524=)
|
rs149423035
|
0.00017
|
|
NM_007078.3(LDB3):c.1858-10T>C
|
rs202208256
|
0.00017
|
|
NM_017534.6(MYH2):c.3728C>T (p.Thr1243Met)
|
rs150829316
|
0.00017
|
|
NM_017534.6(MYH2):c.3854G>A (p.Arg1285His)
|
rs148326504
|
0.00017
|
|
NM_017534.6(MYH2):c.4582C>T (p.Arg1528Cys)
|
rs377584935
|
0.00017
|
|
NM_017534.6(MYH2):c.4697G>A (p.Arg1566His)
|
rs200732220
|
0.00017
|
|
NM_020451.3(SELENON):c.1638C>T (p.Ile546=)
|
rs201066183
|
0.00017
|
|
NM_032790.4(ORAI1):c.158C>G (p.Pro53Arg)
|
rs572379138
|
0.00017
|
|
NM_152393.4(KLHL40):c.236C>T (p.Pro79Leu)
|
rs779637973
|
0.00017
|
|
NM_198271.5(LMOD3):c.453A>T (p.Glu151Asp)
|
rs376142558
|
0.00017
|
|
NM_198859.4(PRICKLE2):c.1044G>A (p.Glu348=)
|
rs759826899
|
0.00017
|
|
NM_000036.3(AMPD1):c.1849A>G (p.Met617Val)
|
rs565587413
|
0.00016
|
|
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr)
|
rs368388214
|
0.00016
|
|
NM_001100.4(ACTA1):c.117C>T (p.Arg39=)
|
rs369113039
|
0.00016
|
|
NM_001101362.3(KBTBD13):c.247G>C (p.Glu83Gln)
|
rs781438362
|
0.00016
|
|
NM_001101362.3(KBTBD13):c.411G>A (p.Ala137=)
|
rs944865368
|
0.00016
|
|
NM_001101362.3(KBTBD13):c.729C>G (p.Ser243Arg)
|
rs767990371
|
0.00016
|
|
NM_001101362.3(KBTBD13):c.958G>T (p.Val320Leu)
|
rs367648853
|
0.00016
|
|
NM_001164508.2(NEB):c.19745C>T (p.Ala6582Val)
|
rs375646776
|
0.00016
|
|
NM_001164508.2(NEB):c.20440C>T (p.Arg6814Cys)
|
rs765806782
|
0.00016
|
|
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=)
|
rs368887173
|
0.00016
|
|
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu)
|
rs367626762
|
0.00016
|
|
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala)
|
rs200269437
|
0.00016
|
|
NM_001164508.2(NEB):c.24841C>T (p.Arg8281Trp)
|
rs200165006
|
0.00016
|
|
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=)
|
rs375569766
|
0.00016
|
|
NM_001164508.2(NEB):c.3879+8G>A
|
rs376511134
|
0.00016
|
|
NM_001164508.2(NEB):c.5420C>T (p.Ala1807Val)
|
rs373790988
|
0.00016
|
|
NM_001164508.2(NEB):c.7227+13T>G
|
rs373818296
|
0.00016
|
|
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)
|
rs375164626
|
0.00016
|
|
NM_001164508.2(NEB):c.8071C>T (p.Arg2691Cys)
|
rs202044707
|
0.00016
|
|
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=)
|
rs368217121
|
0.00016
|
|
NM_001164508.2(NEB):c.9867C>T (p.Gly3289=)
|
rs150283068
|
0.00016
|
|
NM_001256545.2(MEGF10):c.2176G>A (p.Ala726Thr)
|
rs139884665
|
0.00016
|
|
NM_001256545.2(MEGF10):c.3288G>C (p.Gln1096His)
|
rs142969706
|
0.00016
|
|
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile)
|
rs370300135
|
0.00016
|
|
NM_001267550.2(TTN):c.102121G>A (p.Glu34041Lys)
|
rs377600383
|
0.00016
|
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
|
NM_001267550.2(TTN):c.10535T>C (p.Val3512Ala)
|
rs200918396
|
0.00016
|
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00016
|
|
NM_001267550.2(TTN):c.12011A>G (p.Glu4004Gly)
|
rs376000381
|
0.00016
|
|
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser)
|
rs201888760
|
0.00016
|
|
NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly)
|
rs140289517
|
0.00016
|
|
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln)
|
rs117551279
|
0.00016
|
|
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=)
|
rs369993514
|
0.00016
|
|
NM_001267550.2(TTN):c.24165C>T (p.Tyr8055=)
|
rs376896085
|
0.00016
|
|
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His)
|
rs374156904
|
0.00016
|
|
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)
|
rs371826762
|
0.00016
|
|
NM_001267550.2(TTN):c.33367G>A (p.Ala11123Thr)
|
rs200321239
|
0.00016
|
|
NM_001267550.2(TTN):c.36644C>T (p.Pro12215Leu)
|
rs367720476
|
0.00016
|
|
NM_001267550.2(TTN):c.37956G>T (p.Val12652=)
|
rs541757326
|
0.00016
|
|
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=)
|
rs367958537
|
0.00016
|
|
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=)
|
rs550471556
|
0.00016
|
|
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp)
|
rs139636676
|
0.00016
|
|
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys)
|
rs200914097
|
0.00016
|
|
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys)
|
rs543102139
|
0.00016
|
|
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys)
|
rs367774903
|
0.00016
|
|
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln)
|
rs201825412
|
0.00016
|
|
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His)
|
rs371538664
|
0.00016
|
|
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His)
|
rs370135374
|
0.00016
|
|
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr)
|
rs200585270
|
0.00016
|
|
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)
|
rs115867512
|
0.00016
|
|
NM_001267550.2(TTN):c.60734G>A (p.Arg20245Gln)
|
rs575837567
|
0.00016
|
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00016
|
|
NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys)
|
rs191549948
|
0.00016
|
|
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile)
|
rs371081043
|
0.00016
|
|
NM_001267550.2(TTN):c.66549C>T (p.Asp22183=)
|
rs374667295
|
0.00016
|
|
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)
|
rs72646877
|
0.00016
|
|
NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=)
|
rs200717463
|
0.00016
|
|
NM_001267550.2(TTN):c.7234C>T (p.Leu2412=)
|
rs138749618
|
0.00016
|
|
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp)
|
rs187868672
|
0.00016
|
|
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser)
|
rs776256093
|
0.00016
|
|
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro)
|
rs201091376
|
0.00016
|
|
NM_001267550.2(TTN):c.80187G>A (p.Ala26729=)
|
rs779833666
|
0.00016
|
|
NM_001267550.2(TTN):c.85443A>G (p.Ala28481=)
|
rs373326137
|
0.00016
|
|
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)
|
rs375198596
|
0.00016
|
|
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)
|
rs72648230
|
0.00016
|
|
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His)
|
rs202001776
|
0.00016
|
|
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp)
|
rs200022152
|
0.00016
|
|
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)
|
rs200141081
|
0.00016
|
|
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr)
|
rs373727636
|
0.00016
|
|
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)
|
rs397517756
|
0.00016
|
|
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)
|
rs368154623
|
0.00016
|
|
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)
|
rs368423941
|
0.00016
|
|
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His)
|
rs575939045
|
0.00016
|
|
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg)
|
rs200052398
|
0.00016
|
|
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=)
|
rs375403439
|
0.00016
|
|
NM_001378030.1(CCDC78):c.1054-3T>C
|
rs371542042
|
0.00016
|
|
NM_001378030.1(CCDC78):c.268-3C>T
|
rs371386354
|
0.00016
|
|
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys)
|
rs200206944
|
0.00016
|
|
NM_001458.5(FLNC):c.1108A>G (p.Met370Val)
|
rs370406338
|
0.00016
|
|
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
0.00016
|
|
NM_001458.5(FLNC):c.1923C>T (p.His641=)
|
rs375361259
|
0.00016
|
|
NM_001458.5(FLNC):c.2163C>A (p.Asn721Lys)
|
rs370539335
|
0.00016
|
|
NM_001458.5(FLNC):c.2686G>A (p.Gly896Arg)
|
rs200215903
|
0.00016
|
|
NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln)
|
rs143720860
|
0.00016
|
|
NM_001458.5(FLNC):c.3449G>A (p.Arg1150Gln)
|
rs371372377
|
0.00016
|
|
NM_001458.5(FLNC):c.4153C>T (p.Leu1385=)
|
rs202125701
|
0.00016
|
|
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly)
|
rs148545460
|
0.00016
|
|
NM_001458.5(FLNC):c.96G>A (p.Ala32=)
|
rs368239688
|
0.00016
|
|
NM_001843.4(CNTN1):c.1805-3C>T
|
rs771301005
|
0.00016
|
|
NM_001848.3(COL6A1):c.1398+10G>A
|
rs143438559
|
0.00016
|
|
NM_001848.3(COL6A1):c.1475C>T (p.Ala492Val)
|
rs117340427
|
0.00016
|
|
NM_001848.3(COL6A1):c.1680C>T (p.Asn560=)
|
rs147210734
|
0.00016
|
|
NM_001848.3(COL6A1):c.1741-6G>A
|
rs200334019
|
0.00016
|
|
NM_001848.3(COL6A1):c.1957-4A>G
|
rs184484842
|
0.00016
|
|
NM_001848.3(COL6A1):c.424G>C (p.Val142Leu)
|
rs144282452
|
0.00016
|
|
NM_001848.3(COL6A1):c.429-8C>T
|
rs768951384
|
0.00016
|
|
NM_001848.3(COL6A1):c.717+9C>T
|
rs183868804
|
0.00016
|
|
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)
|
rs144801620
|
0.00016
|
|
NM_001849.4(COL6A2):c.2656G>A (p.Gly886Ser)
|
rs571488000
|
0.00016
|
|
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met)
|
rs145527336
|
0.00016
|
|
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser)
|
rs200200671
|
0.00016
|
|
NM_001849.4(COL6A2):c.2986G>A (p.Val996Met)
|
rs142432514
|
0.00016
|
|
NM_001849.4(COL6A2):c.786C>G (p.Gly262=)
|
rs145500808
|
0.00016
|
|
NM_001849.4(COL6A2):c.942C>T (p.Ala314=)
|
rs531713008
|
0.00016
|
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
|
NM_002469.3(MYF6):c.288A>T (p.Lys96Asn)
|
rs377370090
|
0.00016
|
|
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter)
|
rs80358249
|
0.00016
|
|
NM_003283.6(TNNT1):c.73G>A (p.Ala25Thr)
|
rs372922115
|
0.00016
|
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
0.00016
|
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
|
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln)
|
rs201638005
|
0.00016
|
|
NM_004369.4(COL6A3):c.1867C>T (p.Pro623Ser)
|
rs372022185
|
0.00016
|
|
NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys)
|
rs146291186
|
0.00016
|
|
NM_004369.4(COL6A3):c.3190C>T (p.Arg1064Trp)
|
rs369810455
|
0.00016
|
|
NM_004369.4(COL6A3):c.3331G>A (p.Ala1111Thr)
|
rs151021451
|
0.00016
|
|
NM_004369.4(COL6A3):c.4630C>T (p.Leu1544=)
|
rs1460616364
|
0.00016
|
|
NM_004369.4(COL6A3):c.8804C>T (p.Ala2935Val)
|
rs36020669
|
0.00016
|
|
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln)
|
rs367630003
|
0.00016
|
|
NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val)
|
rs201657576
|
0.00016
|
|
NM_004370.6(COL12A1):c.695C>T (p.Thr232Met)
|
rs200443479
|
0.00016
|
|
NM_004370.6(COL12A1):c.8904G>A (p.Pro2968=)
|
rs181007051
|
0.00016
|
|
NM_006790.3(MYOT):c.49T>C (p.Cys17Arg)
|
rs202005786
|
0.00016
|
|
NM_007078.3(LDB3):c.159C>T (p.Asp53=)
|
rs200114285
|
0.00016
|
|
NM_007078.3(LDB3):c.690-4621A>G
|
rs370053163
|
0.00016
|
|
NM_007078.3(LDB3):c.769G>C (p.Glu257Gln)
|
rs143996848
|
0.00016
|
|
NM_017534.6(MYH2):c.1812G>A (p.Leu604=)
|
rs371489019
|
0.00016
|
|
NM_017534.6(MYH2):c.2286T>C (p.Tyr762=)
|
rs139196902
|
0.00016
|
|
NM_017534.6(MYH2):c.2626A>G (p.Arg876Gly)
|
rs201784718
|
0.00016
|
|
NM_017534.6(MYH2):c.2631G>A (p.Lys877=)
|
rs139585266
|
0.00016
|
|
NM_017534.6(MYH2):c.3029A>G (p.Gln1010Arg)
|
rs148961199
|
0.00016
|
|
NM_017534.6(MYH2):c.3939C>A (p.Ala1313=)
|
rs376472420
|
0.00016
|
|
NM_017534.6(MYH2):c.4407G>A (p.Thr1469=)
|
rs144654838
|
0.00016
|
|
NM_017534.6(MYH2):c.4557G>A (p.Thr1519=)
|
rs755267670
|
0.00016
|
|
NM_020451.3(SELENON):c.1247G>A (p.Arg416Gln)
|
rs373112027
|
0.00016
|
|
NM_020451.3(SELENON):c.7C>A (p.Arg3=)
|
rs866566089
|
0.00016
|
|
NM_139343.3(BIN1):c.1003-13C>T
|
rs374490688
|
0.00016
|
|
NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr)
|
rs200887814
|
0.00016
|
|
NM_139343.3(BIN1):c.1480G>A (p.Val494Met)
|
rs144459969
|
0.00016
|
|
NM_145064.3(STAC3):c.870G>A (p.Gly290=)
|
rs142117531
|
0.00016
|
|
NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe)
|
rs142817656
|
0.00016
|
|
NM_152393.4(KLHL40):c.1450G>A (p.Asp484Asn)
|
rs372246096
|
0.00016
|
|
NM_152393.4(KLHL40):c.1709C>T (p.Thr570Met)
|
rs139268932
|
0.00016
|
|
NM_152393.4(KLHL40):c.1746C>A (p.Asp582Glu)
|
rs202096553
|
0.00016
|
|
NM_198859.4(PRICKLE2):c.1091G>A (p.Arg364Gln)
|
rs372367565
|
0.00016
|
|
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)
|
rs775332895
|
0.00016
|
|
NM_213720.3(CHCHD10):c.262-5C>T
|
rs750056280
|
0.00016
|
|
NM_001101362.3(KBTBD13):c.272C>A (p.Pro91Gln)
|
rs773454367
|
0.00015
|
|
NM_001164508.2(NEB):c.10347+18A>G
|
rs200915591
|
0.00015
|
|
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His)
|
rs199584268
|
0.00015
|
|
NM_001164508.2(NEB):c.13539G>A (p.Lys4513=)
|
rs1418203010
|
0.00015
|
|
NM_001164508.2(NEB):c.20941G>A (p.Val6981Met)
|
rs374961597
|
0.00015
|
|
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile)
|
rs200523155
|
0.00015
|
|
NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu)
|
rs376609115
|
0.00015
|
|
NM_001164508.2(NEB):c.4305G>A (p.Val1435=)
|
rs111241479
|
0.00015
|
|
NM_001256545.2(MEGF10):c.2848G>C (p.Val950Leu)
|
rs148280932
|
0.00015
|
|
NM_001256545.2(MEGF10):c.3170G>A (p.Arg1057Lys)
|
rs374156507
|
0.00015
|
|
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)
|
rs181679744
|
0.00015
|
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
|
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro)
|
rs780405420
|
0.00015
|
|
NM_001267550.2(TTN):c.19148-13A>G
|
rs376143407
|
0.00015
|
|
NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys)
|
rs190192954
|
0.00015
|
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00015
|
|
NM_001267550.2(TTN):c.36391C>T (p.Arg12131Cys)
|
rs368607833
|
0.00015
|
|
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro)
|
rs369992659
|
0.00015
|
|
NM_001267550.2(TTN):c.48624T>C (p.Pro16208=)
|
rs72677240
|
0.00015
|
|
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)
|
rs367566671
|
0.00015
|
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00015
|
|
NM_001267550.2(TTN):c.68513C>T (p.Ala22838Val)
|
rs372075439
|
0.00015
|
|
NM_001267550.2(TTN):c.80527T>C (p.Leu26843=)
|
rs142004835
|
0.00015
|
|
NM_001267550.2(TTN):c.85091G>A (p.Arg28364Gln)
|
rs376283153
|
0.00015
|
|
NM_001267550.2(TTN):c.88645_88647del (p.Glu29549del)
|
rs778364983
|
0.00015
|
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
|
NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys)
|
rs746309005
|
0.00015
|
|
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val)
|
rs397517772
|
0.00015
|
|
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr)
|
rs373632943
|
0.00015
|
|
NM_001378030.1(CCDC78):c.1103G>A (p.Gly368Glu)
|
rs145971446
|
0.00015
|
|
NM_001378030.1(CCDC78):c.436G>T (p.Val146Leu)
|
rs148705181
|
0.00015
|
|
NM_001382567.1(STIM1):c.140-15G>C
|
rs202069849
|
0.00015
|
|
NM_001382567.1(STIM1):c.1568-9T>C
|
rs201450136
|
0.00015
|
|
NM_001382567.1(STIM1):c.201A>G (p.Ala67=)
|
rs200194500
|
0.00015
|
|
NM_001382567.1(STIM1):c.597C>A (p.Leu199=)
|
rs189905382
|
0.00015
|
|
NM_001382567.1(STIM1):c.969+10T>G
|
rs764751709
|
0.00015
|
|
NM_001458.5(FLNC):c.3153G>A (p.Pro1051=)
|
rs373694043
|
0.00015
|
|
NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser)
|
rs199707920
|
0.00015
|
|
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg)
|
rs751650734
|
0.00015
|
|
NM_001458.5(FLNC):c.7136-6C>A
|
rs368292177
|
0.00015
|
|
NM_001458.5(FLNC):c.970-4A>G
|
rs532143625
|
0.00015
|
|
NM_001843.4(CNTN1):c.643A>G (p.Ser215Gly)
|
rs138639141
|
0.00015
|
|
NM_001848.3(COL6A1):c.1712A>C (p.Lys571Thr)
|
rs751040647
|
0.00015
|
|
NM_001848.3(COL6A1):c.2852C>T (p.Thr951Met)
|
rs371111712
|
0.00015
|
|
NM_001849.4(COL6A2):c.1816+16C>T
|
rs545974833
|
0.00015
|
|
NM_001849.4(COL6A2):c.2010C>A (p.Thr670=)
|
rs142065958
|
0.00015
|
|
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=)
|
rs181711180
|
0.00015
|
|
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=)
|
rs751192681
|
0.00015
|
|
NM_001927.4(DES):c.243C>T (p.Ser81=)
|
rs201594392
|
0.00015
|
|
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)
|
rs144513891
|
0.00015
|
|
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met)
|
rs114511558
|
0.00015
|
|
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=)
|
rs200285455
|
0.00015
|
|
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu)
|
rs140728855
|
0.00015
|
|
NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys)
|
rs768052470
|
0.00015
|
|
NM_004370.6(COL12A1):c.3443+16G>A
|
rs371060233
|
0.00015
|
|
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala)
|
rs192345009
|
0.00015
|
|
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys)
|
rs200487396
|
0.00015
|
|
NM_004370.6(COL12A1):c.66G>A (p.Glu22=)
|
rs369544130
|
0.00015
|
|
NM_004370.6(COL12A1):c.6718G>A (p.Ala2240Thr)
|
rs199654252
|
0.00015
|
|
NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser)
|
rs200901687
|
0.00015
|
|
NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe)
|
rs146426896
|
0.00015
|
|
NM_007078.3(LDB3):c.492G>T (p.Pro164=)
|
rs368407147
|
0.00015
|
|
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys)
|
rs397517226
|
0.00015
|
|
NM_017534.6(MYH2):c.1334G>A (p.Arg445His)
|
rs201040489
|
0.00015
|
|
NM_017534.6(MYH2):c.1536G>A (p.Thr512=)
|
rs146376676
|
0.00015
|
|
NM_020451.3(SELENON):c.1744C>T (p.Arg582Trp)
|
rs373530866
|
0.00015
|
|
NM_020451.3(SELENON):c.538-7G>A
|
rs374669004
|
0.00015
|
|
NM_152393.4(KLHL40):c.836G>T (p.Gly279Val)
|
rs144534091
|
0.00015
|
|
NM_000036.3(AMPD1):c.681T>C (p.Asp227=)
|
rs201988963
|
0.00014
|
|
NM_000036.3(AMPD1):c.785G>A (p.Arg262Gln)
|
rs764094155
|
0.00014
|
|
NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu)
|
rs145422395
|
0.00014
|
|
NM_000252.3(MTM1):c.423G>A (p.Ala141=)
|
rs377311110
|
0.00014
|
|
NM_001101362.3(KBTBD13):c.1232C>T (p.Thr411Met)
|
rs372826347
|
0.00014
|
|
NM_001101362.3(KBTBD13):c.394G>A (p.Gly132Ser)
|
rs373039171
|
0.00014
|
|
NM_001164508.2(NEB):c.10118G>A (p.Arg3373Gln)
|
rs568814745
|
0.00014
|
|
NM_001164508.2(NEB):c.11076+14C>T
|
rs374866390
|
0.00014
|
|
NM_001164508.2(NEB):c.1187C>T (p.Ala396Val)
|
rs369957704
|
0.00014
|
|
NM_001164508.2(NEB):c.11900A>G (p.Asn3967Ser)
|
rs376194864
|
0.00014
|
|
NM_001164508.2(NEB):c.11971G>A (p.Ala3991Thr)
|
rs368328716
|
0.00014
|
|
NM_001164508.2(NEB):c.1281A>G (p.Leu427=)
|
rs752890513
|
0.00014
|
|
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg)
|
rs368150737
|
0.00014
|
|
NM_001164508.2(NEB):c.18646T>C (p.Phe6216Leu)
|
rs202211102
|
0.00014
|
|
NM_001164508.2(NEB):c.19358C>T (p.Thr6453Met)
|
rs370810654
|
0.00014
|
|
NM_001164508.2(NEB):c.19378G>A (p.Asp6460Asn)
|
rs562175196
|
0.00014
|
|
NM_001164508.2(NEB):c.21861G>A (p.Arg7287=)
|
rs372808358
|
0.00014
|
|
NM_001164508.2(NEB):c.2212-4C>G
|
rs781315546
|
0.00014
|
|
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu)
|
rs201976154
|
0.00014
|
|
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)
|
rs35194393
|
0.00014
|
|
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)
|
rs200719359
|
0.00014
|
|
NM_001164508.2(NEB):c.60C>T (p.Tyr20=)
|
rs768163455
|
0.00014
|
|
NM_001164508.2(NEB):c.6916-4T>G
|
rs745912237
|
0.00014
|
|
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys)
|
rs576076237
|
0.00014
|
|
NM_001256545.2(MEGF10):c.2980+14A>G
|
rs370563737
|
0.00014
|
|
NM_001267550.2(TTN):c.102102C>T (p.Phe34034=)
|
rs377354934
|
0.00014
|
|
NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=)
|
rs375625664
|
0.00014
|
|
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=)
|
rs3731753
|
0.00014
|
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
|
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu)
|
rs376371272
|
0.00014
|
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00014
|
|
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met)
|
rs371455094
|
0.00014
|
|
NM_001267550.2(TTN):c.15180C>T (p.Val5060=)
|
rs376217206
|
0.00014
|
|
NM_001267550.2(TTN):c.15333C>T (p.Asp5111=)
|
rs368695667
|
0.00014
|
|
NM_001267550.2(TTN):c.1800+10T>C
|
rs767071465
|
0.00014
|
|
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)
|
rs553548392
|
0.00014
|
|
NM_001267550.2(TTN):c.21962-6C>T
|
rs374870814
|
0.00014
|
|
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)
|
rs367826445
|
0.00014
|
|
NM_001267550.2(TTN):c.24108G>A (p.Ser8036=)
|
rs752974196
|
0.00014
|
|
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn)
|
rs199619070
|
0.00014
|
|
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=)
|
rs372802604
|
0.00014
|
|
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile)
|
rs376823283
|
0.00014
|
|
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)
|
rs141961878
|
0.00014
|
|
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)
|
rs200902055
|
0.00014
|
|
NM_001267550.2(TTN):c.30888A>G (p.Lys10296=)
|
rs587780978
|
0.00014
|
|
NM_001267550.2(TTN):c.32660T>C (p.Ile10887Thr)
|
rs371538856
|
0.00014
|
|
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys)
|
rs199620003
|
0.00014
|
|
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys)
|
rs201081803
|
0.00014
|
|
NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser)
|
rs374449452
|
0.00014
|
|
NM_001267550.2(TTN):c.35924C>A (p.Ala11975Asp)
|
rs182102510
|
0.00014
|
|
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)
|
rs374497665
|
0.00014
|
|
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=)
|
rs373429851
|
0.00014
|
|
NM_001267550.2(TTN):c.43260C>T (p.Phe14420=)
|
rs372382546
|
0.00014
|
|
NM_001267550.2(TTN):c.43480+20A>T
|
rs375939057
|
0.00014
|
|
NM_001267550.2(TTN):c.44282-6G>A
|
rs372166634
|
0.00014
|
|
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=)
|
rs190058852
|
0.00014
|
|
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu)
|
rs184815126
|
0.00014
|
|
NM_001267550.2(TTN):c.49648+13T>A
|
rs368996176
|
0.00014
|
|
NM_001267550.2(TTN):c.50390G>A (p.Arg16797His)
|
rs200835354
|
0.00014
|
|
NM_001267550.2(TTN):c.51739+19A>C
|
rs536756644
|
0.00014
|
|
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His)
|
rs376080116
|
0.00014
|
|
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)
|
rs200968679
|
0.00014
|
|
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)
|
rs201541213
|
0.00014
|
|
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met)
|
rs373527448
|
0.00014
|
|
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser)
|
rs563969986
|
0.00014
|
|
NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr)
|
rs532844402
|
0.00014
|
|
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr)
|
rs200471370
|
0.00014
|
|
NM_001267550.2(TTN):c.72720T>A (p.Val24240=)
|
rs550285671
|
0.00014
|
|
NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg)
|
rs537071956
|
0.00014
|
|
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)
|
rs192468365
|
0.00014
|
|
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp)
|
rs558830502
|
0.00014
|
|
NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys)
|
rs571328201
|
0.00014
|
|
NM_001267550.2(TTN):c.81517C>G (p.Pro27173Ala)
|
rs754325718
|
0.00014
|
|
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)
|
rs145373396
|
0.00014
|
|
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr)
|
rs148067743
|
0.00014
|
|
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)
|
rs200843338
|
0.00014
|
|
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val)
|
rs72648225
|
0.00014
|
|
NM_001267550.2(TTN):c.86025G>A (p.Pro28675=)
|
rs369528150
|
0.00014
|
|
NM_001267550.2(TTN):c.87111G>A (p.Glu29037=)
|
rs374902148
|
0.00014
|
|
NM_001267550.2(TTN):c.88611T>G (p.Pro29537=)
|
rs555380931
|
0.00014
|
|
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)
|
rs72648235
|
0.00014
|
|
NM_001267550.2(TTN):c.8902+16_8902+18del
|
rs770193619
|
0.00014
|
|
NM_001267550.2(TTN):c.89946C>T (p.Val29982=)
|
rs373311459
|
0.00014
|
|
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=)
|
rs192167542
|
0.00014
|
|
NM_001267550.2(TTN):c.95016T>C (p.Thr31672=)
|
rs367549998
|
0.00014
|
|
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)
|
rs374063064
|
0.00014
|
|
NM_001267550.2(TTN):c.96904+4T>C
|
rs373514079
|
0.00014
|
|
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu)
|
rs146199720
|
0.00014
|
|
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys)
|
rs377599569
|
0.00014
|
|
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser)
|
rs141708467
|
0.00014
|
|
NM_001267550.2(TTN):c.99289+19T>C
|
rs370055296
|
0.00014
|
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
|
NM_001378030.1(CCDC78):c.1275G>A (p.Gln425=)
|
rs760280521
|
0.00014
|
|
NM_001382567.1(STIM1):c.562C>A (p.Gln188Lys)
|
rs372235564
|
0.00014
|
|
NM_001458.5(FLNC):c.1259G>A (p.Arg420Gln)
|
rs371410741
|
0.00014
|
|
NM_001458.5(FLNC):c.2266-5C>T
|
rs371960827
|
0.00014
|
|
NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val)
|
rs200169573
|
0.00014
|
|
NM_001458.5(FLNC):c.4296G>A (p.Pro1432=)
|
rs370827536
|
0.00014
|
|
NM_001458.5(FLNC):c.4334A>G (p.Lys1445Arg)
|
rs371591881
|
0.00014
|
|
NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala)
|
rs775049569
|
0.00014
|
|
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)
|
rs374124083
|
0.00014
|
|
NM_001458.5(FLNC):c.5298+6G>A
|
rs373553314
|
0.00014
|
|
NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln)
|
rs369759751
|
0.00014
|
|
NM_001458.5(FLNC):c.6594C>T (p.Gly2198=)
|
rs754112206
|
0.00014
|
|
NM_001458.5(FLNC):c.7596T>C (p.Asn2532=)
|
rs377522797
|
0.00014
|
|
NM_001843.4(CNTN1):c.1095G>T (p.Leu365Phe)
|
rs151126410
|
0.00014
|
|
NM_001843.4(CNTN1):c.1722G>A (p.Gln574=)
|
rs201122600
|
0.00014
|
|
NM_001843.4(CNTN1):c.821G>A (p.Arg274Gln)
|
rs374200408
|
0.00014
|
|
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=)
|
rs369802454
|
0.00014
|
|
NM_001848.3(COL6A1):c.1930C>T (p.Arg644Trp)
|
rs146622557
|
0.00014
|
|
NM_001848.3(COL6A1):c.2200A>G (p.Thr734Ala)
|
rs562898957
|
0.00014
|
|
NM_001848.3(COL6A1):c.2349G>T (p.Arg783=)
|
rs373511343
|
0.00014
|
|
NM_001848.3(COL6A1):c.2875G>A (p.Val959Met)
|
rs200959957
|
0.00014
|
|
NM_001848.3(COL6A1):c.3078G>A (p.Ala1026=)
|
rs190043330
|
0.00014
|
|
NM_001848.3(COL6A1):c.348C>T (p.Ser116=)
|
rs189444981
|
0.00014
|
|
NM_001849.4(COL6A2):c.186C>A (p.Pro62=)
|
rs762050166
|
0.00014
|
|
NM_001849.4(COL6A2):c.1970-13G>A
|
rs369943351
|
0.00014
|
|
NM_001849.4(COL6A2):c.2711C>T (p.Ala904Val)
|
rs376665722
|
0.00014
|
|
NM_001849.4(COL6A2):c.567C>T (p.Ala189=)
|
rs563505047
|
0.00014
|
|
NM_001849.4(COL6A2):c.624G>A (p.Pro208=)
|
rs146333253
|
0.00014
|
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
0.00014
|
|
NM_004168.4(SDHA):c.1064+10A>G
|
rs773168516
|
0.00014
|
|
NM_004168.4(SDHA):c.1552-15T>C
|
rs543628983
|
0.00014
|
|
NM_004168.4(SDHA):c.777C>T (p.Tyr259=)
|
rs140243793
|
0.00014
|
|
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)
|
rs200526913
|
0.00014
|
|
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg)
|
rs759348679
|
0.00014
|
|
NM_004369.4(COL6A3):c.1874G>C (p.Arg625Thr)
|
rs61729841
|
0.00014
|
|
NM_004369.4(COL6A3):c.2195C>T (p.Thr732Met)
|
rs370719148
|
0.00014
|
|
NM_004369.4(COL6A3):c.3651G>T (p.Gln1217His)
|
rs115065877
|
0.00014
|
|
NM_004369.4(COL6A3):c.6769G>A (p.Ala2257Thr)
|
rs372154635
|
0.00014
|
|
NM_004369.4(COL6A3):c.6899G>A (p.Gly2300Glu)
|
rs145572916
|
0.00014
|
|
NM_004369.4(COL6A3):c.6966+4A>C
|
rs373940717
|
0.00014
|
|
NM_004369.4(COL6A3):c.9045C>T (p.Pro3015=)
|
rs144834964
|
0.00014
|
|
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=)
|
rs370024636
|
0.00014
|
|
NM_004370.6(COL12A1):c.5883G>C (p.Val1961=)
|
rs368930149
|
0.00014
|
|
NM_004370.6(COL12A1):c.6048C>T (p.Ser2016=)
|
rs369770672
|
0.00014
|
|
NM_004370.6(COL12A1):c.8469+14T>C
|
rs370535727
|
0.00014
|
|
NM_004370.6(COL12A1):c.9144G>C (p.Gln3048His)
|
rs57396313
|
0.00014
|
|
NM_006063.3(KLHL41):c.642C>G (p.Asn214Lys)
|
rs372183592
|
0.00014
|
|
NM_007078.3(LDB3):c.897-14T>C
|
rs763081924
|
0.00014
|
|
NM_017534.6(MYH2):c.1300G>A (p.Val434Ile)
|
rs143204063
|
0.00014
|
|
NM_017534.6(MYH2):c.3354+10T>A
|
rs201933458
|
0.00014
|
|
NM_017534.6(MYH2):c.5577+7C>A
|
rs370883162
|
0.00014
|
|
NM_020451.3(SELENON):c.81C>T (p.Arg27=)
|
rs886038660
|
0.00014
|
|
NM_032790.4(ORAI1):c.763G>A (p.Val255Ile)
|
rs376286032
|
0.00014
|
|
NM_139343.3(BIN1):c.1003-11C>G
|
rs759676621
|
0.00014
|
|
NM_139343.3(BIN1):c.1006C>T (p.Arg336Trp)
|
rs76037557
|
0.00014
|
|
NM_139343.3(BIN1):c.681G>A (p.Leu227=)
|
rs199658397
|
0.00014
|
|
NM_145064.3(STAC3):c.513C>G (p.Ala171=)
|
rs373756417
|
0.00014
|
|
NM_198859.4(PRICKLE2):c.1661-19C>T
|
rs542772297
|
0.00014
|
|
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=)
|
rs200220646
|
0.00014
|
|
NM_000036.3(AMPD1):c.637G>A (p.Gly213Ser)
|
rs373262677
|
0.00013
|
|
NM_000182.5(HADHA):c.1690-14C>T
|
rs142401180
|
0.00013
|
|
NM_000182.5(HADHA):c.68-13T>C
|
rs182123964
|
0.00013
|
|
NM_001101362.3(KBTBD13):c.393C>A (p.Asp131Glu)
|
rs544721592
|
0.00013
|
|
NM_001101362.3(KBTBD13):c.58G>C (p.Ala20Pro)
|
rs749605981
|
0.00013
|
|
NM_001101362.3(KBTBD13):c.882G>A (p.Pro294=)
|
rs767222138
|
0.00013
|
|
NM_001164508.2(NEB):c.10377C>T (p.Asp3459=)
|
rs373823362
|
0.00013
|
|
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg)
|
rs371568550
|
0.00013
|
|
NM_001164508.2(NEB):c.1119G>A (p.Arg373=)
|
rs200914626
|
0.00013
|
|
NM_001164508.2(NEB):c.12639+16A>G
|
rs752536032
|
0.00013
|
|
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser)
|
rs199710125
|
0.00013
|
|
NM_001164508.2(NEB):c.16713C>T (p.Tyr5571=)
|
rs202142644
|
0.00013
|
|
NM_001164508.2(NEB):c.17898G>A (p.Pro5966=)
|
rs376655029
|
0.00013
|
|
NM_001164508.2(NEB):c.23742+11T>C
|
rs374368246
|
0.00013
|
|
NM_001164508.2(NEB):c.2639G>A (p.Arg880His)
|
rs202026890
|
0.00013
|
|
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys)
|
rs199907781
|
0.00013
|
|
NM_001164508.2(NEB):c.642C>A (p.Asp214Glu)
|
rs373133009
|
0.00013
|
|
NM_001164508.2(NEB):c.6491G>A (p.Ser2164Asn)
|
rs780626863
|
0.00013
|
|
NM_001164508.2(NEB):c.7644+18G>C
|
rs772614356
|
0.00013
|
|
NM_001164508.2(NEB):c.8799T>C (p.Tyr2933=)
|
rs375997049
|
0.00013
|
|
NM_001164508.2(NEB):c.9195C>T (p.His3065=)
|
rs374734631
|
0.00013
|
|
NM_001256545.2(MEGF10):c.1316G>A (p.Cys439Tyr)
|
rs761883697
|
0.00013
|
|
NM_001256545.2(MEGF10):c.1364G>A (p.Arg455His)
|
rs144145310
|
0.00013
|
|
NM_001256545.2(MEGF10):c.401A>G (p.Asn134Ser)
|
rs574376262
|
0.00013
|
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
|
NM_001267550.2(TTN):c.10537T>C (p.Phe3513Leu)
|
rs771751290
|
0.00013
|
|
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)
|
rs374405802
|
0.00013
|
|
NM_001267550.2(TTN):c.12434A>C (p.Glu4145Ala)
|
rs372744369
|
0.00013
|
|
NM_001267550.2(TTN):c.1280C>T (p.Ala427Val)
|
rs759339096
|
0.00013
|
|
NM_001267550.2(TTN):c.12889T>G (p.Cys4297Gly)
|
rs377063950
|
0.00013
|
|
NM_001267550.2(TTN):c.1521C>T (p.His507=)
|
rs372875660
|
0.00013
|
|
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His)
|
rs200941841
|
0.00013
|
|
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)
|
rs199778910
|
0.00013
|
|
NM_001267550.2(TTN):c.18843A>G (p.Ser6281=)
|
rs755958191
|
0.00013
|
|
NM_001267550.2(TTN):c.19496A>T (p.His6499Leu)
|
rs375173049
|
0.00013
|
|
NM_001267550.2(TTN):c.23353T>C (p.Cys7785Arg)
|
rs371090975
|
0.00013
|
|
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)
|
rs374879942
|
0.00013
|
|
NM_001267550.2(TTN):c.27715T>C (p.Tyr9239His)
|
rs373068293
|
0.00013
|
|
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
|
rs72648997
|
0.00013
|
|
NM_001267550.2(TTN):c.28320C>T (p.Gly9440=)
|
rs375083775
|
0.00013
|
|
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)
|
rs72650035
|
0.00013
|
|
NM_001267550.2(TTN):c.3318C>T (p.Gly1106=)
|
rs141768043
|
0.00013
|
|
NM_001267550.2(TTN):c.35313G>A (p.Pro11771=)
|
rs369739111
|
0.00013
|
|
NM_001267550.2(TTN):c.35387C>A (p.Ala11796Glu)
|
rs200321949
|
0.00013
|
|
NM_001267550.2(TTN):c.36170C>A (p.Pro12057His)
|
rs374834199
|
0.00013
|
|
NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr)
|
rs373753003
|
0.00013
|
|
NM_001267550.2(TTN):c.36405G>A (p.Val12135=)
|
rs373815877
|
0.00013
|
|
NM_001267550.2(TTN):c.36490C>A (p.Pro12164Thr)
|
rs373422655
|
0.00013
|
|
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg)
|
rs997014833
|
0.00013
|
|
NM_001267550.2(TTN):c.38733C>T (p.Val12911=)
|
rs760384854
|
0.00013
|
|
NM_001267550.2(TTN):c.38875+20G>T
|
rs773913022
|
0.00013
|
|
NM_001267550.2(TTN):c.41885-16T>C
|
rs368838630
|
0.00013
|
|
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His)
|
rs397517573
|
0.00013
|
|
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)
|
rs200944827
|
0.00013
|
|
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys)
|
rs397517600
|
0.00013
|
|
NM_001267550.2(TTN):c.53166C>T (p.Asn17722=)
|
rs371730757
|
0.00013
|
|
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)
|
rs199837769
|
0.00013
|
|
NM_001267550.2(TTN):c.57262+15T>G
|
rs370875441
|
0.00013
|
|
NM_001267550.2(TTN):c.5742G>A (p.Ala1914=)
|
rs368719553
|
0.00013
|
|
NM_001267550.2(TTN):c.68640G>A (p.Lys22880=)
|
rs370292933
|
0.00013
|
|
NM_001267550.2(TTN):c.6899A>G (p.Tyr2300Cys)
|
rs772093035
|
0.00013
|
|
NM_001267550.2(TTN):c.71883T>C (p.Val23961=)
|
rs368692510
|
0.00013
|
|
NM_001267550.2(TTN):c.72906T>A (p.Ala24302=)
|
rs773886758
|
0.00013
|
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
|
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys)
|
rs149660690
|
0.00013
|
|
NM_001267550.2(TTN):c.78991C>A (p.Arg26331=)
|
rs779996703
|
0.00013
|
|
NM_001267550.2(TTN):c.81157T>A (p.Tyr27053Asn)
|
rs776943572
|
0.00013
|
|
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser)
|
rs199929362
|
0.00013
|
|
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser)
|
rs201422612
|
0.00013
|
|
NM_001267550.2(TTN):c.86355T>C (p.Asn28785=)
|
rs745857020
|
0.00013
|
|
NM_001267550.2(TTN):c.86658G>A (p.Glu28886=)
|
rs760858743
|
0.00013
|
|
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile)
|
rs201687390
|
0.00013
|
|
NM_001267550.2(TTN):c.89066G>A (p.Arg29689His)
|
rs368634670
|
0.00013
|
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
|
NM_001267550.2(TTN):c.8976G>A (p.Val2992=)
|
rs544348559
|
0.00013
|
|
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg)
|
rs201019681
|
0.00013
|
|
NM_001267550.2(TTN):c.95082C>T (p.Ser31694=)
|
rs776679937
|
0.00013
|
|
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=)
|
rs373509153
|
0.00013
|
|
NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys)
|
rs139542862
|
0.00013
|
|
NM_001368067.1(LDB3):c.393C>T (p.Ala131=)
|
rs368832031
|
0.00013
|
|
NM_001378030.1(CCDC78):c.1189C>T (p.Arg397Cys)
|
rs559942514
|
0.00013
|
|
NM_001378030.1(CCDC78):c.472C>T (p.Gln158Ter)
|
rs200825023
|
0.00013
|
|
NM_001382567.1(STIM1):c.1757G>A (p.Gly586Asp)
|
rs200525396
|
0.00013
|
|
NM_001382567.1(STIM1):c.454G>A (p.Glu152Lys)
|
rs143916878
|
0.00013
|
|
NM_001382567.1(STIM1):c.570G>T (p.Leu190=)
|
rs200233698
|
0.00013
|
|
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln)
|
rs369935650
|
0.00013
|
|
NM_001458.5(FLNC):c.3090C>T (p.Pro1030=)
|
rs760926290
|
0.00013
|
|
NM_001458.5(FLNC):c.3791-8G>A
|
rs374187337
|
0.00013
|
|
NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp)
|
rs779079128
|
0.00013
|
|
NM_001458.5(FLNC):c.600C>T (p.Pro200=)
|
rs202105410
|
0.00013
|
|
NM_001843.4(CNTN1):c.2604C>T (p.Leu868=)
|
rs145610308
|
0.00013
|
|
NM_001848.3(COL6A1):c.1231G>A (p.Asp411Asn)
|
rs575394639
|
0.00013
|
|
NM_001848.3(COL6A1):c.2820G>A (p.Leu940=)
|
rs111451684
|
0.00013
|
|
NM_001848.3(COL6A1):c.594G>A (p.Pro198=)
|
rs376592866
|
0.00013
|
|
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)
|
rs75581470
|
0.00013
|
|
NM_001849.4(COL6A2):c.1836C>T (p.Gly612=)
|
rs141257132
|
0.00013
|
|
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=)
|
rs201426778
|
0.00013
|
|
NM_001849.4(COL6A2):c.2470G>A (p.Val824Met)
|
rs758758266
|
0.00013
|
|
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=)
|
rs146420786
|
0.00013
|
|
NM_001849.4(COL6A2):c.542G>A (p.Arg181His)
|
rs371640468
|
0.00013
|
|
NM_001927.4(DES):c.1257C>T (p.Pro419=)
|
rs143154982
|
0.00013
|
|
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)
|
rs191412461
|
0.00013
|
|
NM_004168.4(SDHA):c.1A>G (p.Met1Val)
|
rs1061517
|
0.00013
|
|
NM_004281.4(BAG3):c.1029C>A (p.Arg343=)
|
rs117972572
|
0.00013
|
|
NM_004369.4(COL6A3):c.289C>T (p.Arg97Cys)
|
rs144651558
|
0.00013
|
|
NM_004369.4(COL6A3):c.5501-4C>G
|
rs143237699
|
0.00013
|
|
NM_004369.4(COL6A3):c.6064-6C>T
|
rs202091342
|
0.00013
|
|
NM_004369.4(COL6A3):c.6868C>T (p.Arg2290Cys)
|
rs116608946
|
0.00013
|
|
NM_004369.4(COL6A3):c.7025G>A (p.Arg2342Gln)
|
rs369317566
|
0.00013
|
|
NM_004369.4(COL6A3):c.7175-11A>G
|
rs373913396
|
0.00013
|
|
NM_004369.4(COL6A3):c.7670T>A (p.Ile2557Asn)
|
rs146872525
|
0.00013
|
|
NM_004369.4(COL6A3):c.839G>T (p.Arg280Leu)
|
rs370246962
|
0.00013
|
|
NM_004370.6(COL12A1):c.2797C>T (p.Arg933Cys)
|
rs377223474
|
0.00013
|
|
NM_004370.6(COL12A1):c.4001-11C>T
|
rs374279219
|
0.00013
|
|
NM_004370.6(COL12A1):c.5133C>T (p.Phe1711=)
|
rs180961776
|
0.00013
|
|
NM_004370.6(COL12A1):c.7809C>T (p.Asp2603=)
|
rs376582053
|
0.00013
|
|
NM_006790.3(MYOT):c.1453C>T (p.Arg485Cys)
|
rs140755418
|
0.00013
|
|
NM_006790.3(MYOT):c.342C>T (p.Ser114=)
|
rs34593399
|
0.00013
|
|
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg)
|
rs141870580
|
0.00013
|
|
NM_007078.3(LDB3):c.1956C>T (p.Asp652=)
|
rs139213290
|
0.00013
|
|
NM_007078.3(LDB3):c.342C>T (p.Asn114=)
|
rs151166414
|
0.00013
|
|
NM_007078.3(LDB3):c.714C>T (p.Ala238=)
|
rs727503125
|
0.00013
|
|
NM_017534.6(MYH2):c.1174A>G (p.Ser392Gly)
|
rs139212712
|
0.00013
|
|
NM_017534.6(MYH2):c.3477C>T (p.Ala1159=)
|
rs193162376
|
0.00013
|
|
NM_017534.6(MYH2):c.506-20G>C
|
rs368387130
|
0.00013
|
|
NM_032790.4(ORAI1):c.14C>T (p.Pro5Leu)
|
rs549883296
|
0.00013
|
|
NM_032790.4(ORAI1):c.735C>T (p.Pro245=)
|
rs370588656
|
0.00013
|
|
NM_145064.3(STAC3):c.323G>A (p.Arg108Gln)
|
rs186941885
|
0.00013
|
|
NM_198271.5(LMOD3):c.1576C>T (p.Pro526Ser)
|
rs201771939
|
0.00013
|
|
NM_198271.5(LMOD3):c.295-3T>C
|
rs377200088
|
0.00013
|
|
NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser)
|
rs202025796
|
0.00013
|
|
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys)
|
rs375663114
|
0.00012
|
|
NM_000182.5(HADHA):c.1085+17G>A
|
rs183045060
|
0.00012
|
|
NM_000182.5(HADHA):c.1217A>G (p.Lys406Arg)
|
rs552191498
|
0.00012
|
|
NM_001101362.3(KBTBD13):c.1086C>T (p.Asp362=)
|
rs367745880
|
0.00012
|
|
NM_001101362.3(KBTBD13):c.382T>C (p.Phe128Leu)
|
rs572875121
|
0.00012
|
|
NM_001164508.2(NEB):c.10348C>T (p.Arg3450Cys)
|
rs200462308
|
0.00012
|
|
NM_001164508.2(NEB):c.10609G>A (p.Ala3537Thr)
|
rs556492694
|
0.00012
|
|
NM_001164508.2(NEB):c.10735C>G (p.Leu3579Val)
|
rs149384863
|
0.00012
|
|
NM_001164508.2(NEB):c.12316G>A (p.Asp4106Asn)
|
rs192843524
|
0.00012
|
|
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr)
|
rs375294508
|
0.00012
|
|
NM_001164508.2(NEB):c.18342G>A (p.Lys6114=)
|
rs565998554
|
0.00012
|
|
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg)
|
rs199594449
|
0.00012
|
|
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro)
|
rs184723737
|
0.00012
|
|
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln)
|
rs372804439
|
0.00012
|
|
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu)
|
rs886038447
|
0.00012
|
|
NM_001164508.2(NEB):c.24108T>C (p.Phe8036=)
|
rs748169663
|
0.00012
|
|
NM_001164508.2(NEB):c.25055C>T (p.Thr8352Ile)
|
rs372762302
|
0.00012
|
|
NM_001164508.2(NEB):c.2823G>A (p.Ala941=)
|
rs376849181
|
0.00012
|
|
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu)
|
rs201473194
|
0.00012
|
|
NM_001164508.2(NEB):c.5249C>T (p.Thr1750Ile)
|
rs571713476
|
0.00012
|
|
NM_001164508.2(NEB):c.6624G>A (p.Pro2208=)
|
rs373278622
|
0.00012
|
|
NM_001164508.2(NEB):c.780A>G (p.Pro260=)
|
rs80255720
|
0.00012
|
|
NM_001164508.2(NEB):c.7896A>G (p.Thr2632=)
|
rs377015178
|
0.00012
|
|
NM_001164508.2(NEB):c.8115C>T (p.Ser2705=)
|
rs755894828
|
0.00012
|
|
NM_001164508.2(NEB):c.853A>G (p.Ile285Val)
|
rs773114380
|
0.00012
|
|
NM_001164508.2(NEB):c.8890C>T (p.Arg2964Cys)
|
rs368965372
|
0.00012
|
|
NM_001256545.2(MEGF10):c.1426+19G>A
|
rs183730442
|
0.00012
|
|
NM_001256545.2(MEGF10):c.596A>G (p.Asn199Ser)
|
rs373163952
|
0.00012
|
|
NM_001267550.2(TTN):c.100869A>G (p.Pro33623=)
|
rs528099201
|
0.00012
|
|
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=)
|
rs376894729
|
0.00012
|
|
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln)
|
rs144531477
|
0.00012
|
|
NM_001267550.2(TTN):c.106974C>T (p.Ser35658=)
|
rs761795663
|
0.00012
|
|
NM_001267550.2(TTN):c.107082G>A (p.Leu35694=)
|
rs727505278
|
0.00012
|
|
NM_001267550.2(TTN):c.12404A>G (p.Asn4135Ser)
|
rs565638291
|
0.00012
|
|
NM_001267550.2(TTN):c.12955G>A (p.Ala4319Thr)
|
rs150137596
|
0.00012
|
|
NM_001267550.2(TTN):c.1399-3C>T
|
rs397517486
|
0.00012
|
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
|
NM_001267550.2(TTN):c.15218-17C>T
|
rs192438325
|
0.00012
|
|
NM_001267550.2(TTN):c.16113T>C (p.Asn5371=)
|
rs143845692
|
0.00012
|
|
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)
|
rs374882815
|
0.00012
|
|
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)
|
rs146219199
|
0.00012
|
|
NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr)
|
rs550441902
|
0.00012
|
|
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=)
|
rs371495674
|
0.00012
|
|
NM_001267550.2(TTN):c.204C>T (p.Pro68=)
|
rs201089861
|
0.00012
|
|
NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile)
|
rs200395305
|
0.00012
|
|
NM_001267550.2(TTN):c.24505+13C>T
|
rs534803807
|
0.00012
|
|
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)
|
rs375209098
|
0.00012
|
|
NM_001267550.2(TTN):c.28542G>A (p.Glu9514=)
|
rs370604793
|
0.00012
|
|
NM_001267550.2(TTN):c.29313C>T (p.Cys9771=)
|
rs375017037
|
0.00012
|
|
NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val)
|
rs182720979
|
0.00012
|
|
NM_001267550.2(TTN):c.31594+16T>C
|
rs552832521
|
0.00012
|
|
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser)
|
rs201120871
|
0.00012
|
|
NM_001267550.2(TTN):c.36737A>T (p.Glu12246Val)
|
rs786205395
|
0.00012
|
|
NM_001267550.2(TTN):c.36830C>T (p.Ala12277Val)
|
rs878854300
|
0.00012
|
|
NM_001267550.2(TTN):c.37019C>T (p.Pro12340Leu)
|
rs778829839
|
0.00012
|
|
NM_001267550.2(TTN):c.39045G>C (p.Val13015=)
|
rs192464868
|
0.00012
|
|
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile)
|
rs374394719
|
0.00012
|
|
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg)
|
rs184713215
|
0.00012
|
|
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys)
|
rs2303830
|
0.00012
|
|
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His)
|
rs368806005
|
0.00012
|
|
NM_001267550.2(TTN):c.51887G>A (p.Arg17296His)
|
rs200456782
|
0.00012
|
|
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)
|
rs367700246
|
0.00012
|
|
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)
|
rs368021072
|
0.00012
|
|
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala)
|
rs727503600
|
0.00012
|
|
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His)
|
rs201774108
|
0.00012
|
|
NM_001267550.2(TTN):c.56850G>A (p.Val18950=)
|
rs368068200
|
0.00012
|
|
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr)
|
rs78509062
|
0.00012
|
|
NM_001267550.2(TTN):c.58362C>T (p.Ser19454=)
|
rs374998127
|
0.00012
|
|
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp)
|
rs202206216
|
0.00012
|
|
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu)
|
rs750217838
|
0.00012
|
|
NM_001267550.2(TTN):c.62136C>T (p.Ser20712=)
|
rs901971997
|
0.00012
|
|
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr)
|
rs397517667
|
0.00012
|
|
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)
|
rs375676529
|
0.00012
|
|
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)
|
rs370890454
|
0.00012
|
|
NM_001267550.2(TTN):c.71300G>A (p.Arg23767Gln)
|
rs370516890
|
0.00012
|
|
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)
|
rs56245285
|
0.00012
|
|
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)
|
rs200028088
|
0.00012
|
|
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)
|
rs372543652
|
0.00012
|
|
NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr)
|
rs397517720
|
0.00012
|
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
|
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=)
|
rs199629314
|
0.00012
|
|
NM_001267550.2(TTN):c.82688G>A (p.Arg27563His)
|
rs118079537
|
0.00012
|
|
NM_001267550.2(TTN):c.85275T>C (p.Thr28425=)
|
rs376484117
|
0.00012
|
|
NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr)
|
rs142478636
|
0.00012
|
|
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser)
|
rs373722546
|
0.00012
|
|
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys)
|
rs775591945
|
0.00012
|
|
NM_001267550.2(TTN):c.93371A>T (p.Asp31124Val)
|
rs775147653
|
0.00012
|
|
NM_001382567.1(STIM1):c.105C>T (p.Ser35=)
|
rs139540641
|
0.00012
|
|
NM_001382567.1(STIM1):c.792-8C>T
|
rs201395930
|
0.00012
|
|
NM_001458.5(FLNC):c.1568T>C (p.Val523Ala)
|
rs182845462
|
0.00012
|
|
NM_001458.5(FLNC):c.1608G>A (p.Glu536=)
|
rs549086803
|
0.00012
|
|
NM_001458.5(FLNC):c.5127C>T (p.Pro1709=)
|
rs540345016
|
0.00012
|
|
NM_001458.5(FLNC):c.5426C>T (p.Thr1809Met)
|
rs369118592
|
0.00012
|
|
NM_001458.5(FLNC):c.6689G>A (p.Arg2230His)
|
rs376035195
|
0.00012
|
|
NM_001458.5(FLNC):c.7803C>T (p.His2601=)
|
rs749737805
|
0.00012
|
|
NM_001843.4(CNTN1):c.1006C>T (p.His336Tyr)
|
rs200591895
|
0.00012
|
|
NM_001843.4(CNTN1):c.1024G>A (p.Val342Met)
|
rs200139062
|
0.00012
|
|
NM_001843.4(CNTN1):c.2983G>A (p.Ala995Thr)
|
rs143416044
|
0.00012
|
|
NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val)
|
rs377455608
|
0.00012
|
|
NM_001848.3(COL6A1):c.2793G>A (p.Ser931=)
|
rs148561616
|
0.00012
|
|
NM_001849.4(COL6A2):c.1621G>A (p.Asp541Asn)
|
rs138276378
|
0.00012
|
|
NM_001849.4(COL6A2):c.1963G>A (p.Glu655Lys)
|
rs771886065
|
0.00012
|
|
NM_001849.4(COL6A2):c.2584C>T (p.Arg862Trp)
|
rs777822883
|
0.00012
|
|
NM_001849.4(COL6A2):c.2748C>T (p.His916=)
|
rs372206114
|
0.00012
|
|
NM_001849.4(COL6A2):c.2935G>A (p.Asp979Asn)
|
rs141579198
|
0.00012
|
|
NM_001849.4(COL6A2):c.2960C>T (p.Thr987Met)
|
rs199955442
|
0.00012
|
|
NM_004168.4(SDHA):c.1770C>T (p.Gly590=)
|
rs142457602
|
0.00012
|
|
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr)
|
rs370481102
|
0.00012
|
|
NM_004369.4(COL6A3):c.1961A>G (p.Asn654Ser)
|
rs144501019
|
0.00012
|
|
NM_004369.4(COL6A3):c.2497+19C>T
|
rs141966456
|
0.00012
|
|
NM_004369.4(COL6A3):c.2525T>C (p.Phe842Ser)
|
rs369930821
|
0.00012
|
|
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=)
|
rs200098134
|
0.00012
|
|
NM_004369.4(COL6A3):c.4066G>A (p.Ala1356Thr)
|
rs143459232
|
0.00012
|
|
NM_004369.4(COL6A3):c.4436A>T (p.Gln1479Leu)
|
rs369449472
|
0.00012
|
|
NM_004369.4(COL6A3):c.5179C>T (p.Arg1727Trp)
|
rs143074017
|
0.00012
|
|
NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=)
|
rs144592806
|
0.00012
|
|
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu)
|
rs150694150
|
0.00012
|
|
NM_004370.6(COL12A1):c.1891+4A>G
|
rs148292262
|
0.00012
|
|
NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg)
|
rs199692759
|
0.00012
|
|
NM_004370.6(COL12A1):c.4630A>G (p.Thr1544Ala)
|
rs777544552
|
0.00012
|
|
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)
|
rs144731446
|
0.00012
|
|
NM_006790.3(MYOT):c.571G>C (p.Gly191Arg)
|
rs199789331
|
0.00012
|
|
NM_145064.3(STAC3):c.962G>A (p.Arg321His)
|
rs370840978
|
0.00012
|
|
NM_152393.4(KLHL40):c.1062G>A (p.Leu354=)
|
rs140334551
|
0.00012
|
|
NM_152393.4(KLHL40):c.1077C>G (p.Asn359Lys)
|
rs377564589
|
0.00012
|
|
NM_152393.4(KLHL40):c.1639C>T (p.Arg547Cys)
|
rs187688307
|
0.00012
|
|
NM_198271.5(LMOD3):c.148G>A (p.Val50Met)
|
rs144761436
|
0.00012
|
|
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=)
|
rs367680077
|
0.00012
|
|
NM_213720.3(CHCHD10):c.378C>T (p.Ser126=)
|
rs199579266
|
0.00012
|
|
NM_000036.3(AMPD1):c.1595A>T (p.Glu532Val)
|
rs776146662
|
0.00011
|
|
NM_000036.3(AMPD1):c.2146C>T (p.Arg716Trp)
|
rs143596876
|
0.00011
|
|
NM_000182.5(HADHA):c.1690-12C>T
|
rs369641464
|
0.00011
|
|
NM_000182.5(HADHA):c.872G>A (p.Arg291Gln)
|
rs143414408
|
0.00011
|
|
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=)
|
rs587783806
|
0.00011
|
|
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr)
|
rs782217375
|
0.00011
|
|
NM_001100.4(ACTA1):c.324C>A (p.Thr108=)
|
rs41271479
|
0.00011
|
|
NM_001101362.3(KBTBD13):c.283C>A (p.Arg95Ser)
|
rs377071831
|
0.00011
|
|
NM_001101362.3(KBTBD13):c.2T>G (p.Met1Arg)
|
rs374196960
|
0.00011
|
|
NM_001101362.3(KBTBD13):c.881C>T (p.Pro294Leu)
|
rs754870477
|
0.00011
|
|
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile)
|
rs200585609
|
0.00011
|
|
NM_001164508.2(NEB):c.12247C>T (p.Arg4083Cys)
|
rs368383341
|
0.00011
|
|
NM_001164508.2(NEB):c.12298C>G (p.Gln4100Glu)
|
rs373829936
|
0.00011
|
|
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn)
|
rs1057522021
|
0.00011
|
|
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp)
|
rs546869744
|
0.00011
|
|
NM_001164508.2(NEB):c.17518G>A (p.Ala5840Thr)
|
rs376277385
|
0.00011
|
|
NM_001164508.2(NEB):c.18488C>T (p.Ala6163Val)
|
rs201529683
|
0.00011
|
|
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His)
|
rs200195063
|
0.00011
|
|
NM_001164508.2(NEB):c.19429-20A>G
|
rs372241831
|
0.00011
|
|
NM_001164508.2(NEB):c.19865G>A (p.Ser6622Asn)
|
rs144168709
|
0.00011
|
|
NM_001164508.2(NEB):c.19944+14A>T
|
rs147106649
|
0.00011
|
|
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys)
|
rs527250558
|
0.00011
|
|
NM_001164508.2(NEB):c.20212G>A (p.Asp6738Asn)
|
rs201337732
|
0.00011
|
|
NM_001164508.2(NEB):c.21056G>A (p.Arg7019His)
|
rs377443184
|
0.00011
|
|
NM_001164508.2(NEB):c.21579C>T (p.His7193=)
|
rs372877088
|
0.00011
|
|
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu)
|
rs202137113
|
0.00011
|
|
NM_001164508.2(NEB):c.23928+14G>A
|
rs538314913
|
0.00011
|
|
NM_001164508.2(NEB):c.24207+17G>C
|
rs373742185
|
0.00011
|
|
NM_001164508.2(NEB):c.24615C>T (p.Pro8205=)
|
rs371270146
|
0.00011
|
|
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val)
|
rs551649582
|
0.00011
|
|
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)
|
rs373551215
|
0.00011
|
|
NM_001164508.2(NEB):c.2773A>G (p.Ser925Gly)
|
rs928041091
|
0.00011
|
|
NM_001164508.2(NEB):c.5554A>G (p.Met1852Val)
|
rs370172690
|
0.00011
|
|
NM_001164508.2(NEB):c.6175G>A (p.Ala2059Thr)
|
rs369215974
|
0.00011
|
|
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys)
|
rs201758329
|
0.00011
|
|
NM_001164508.2(NEB):c.6807+5A>G
|
rs746481799
|
0.00011
|
|
NM_001164508.2(NEB):c.6885A>G (p.Leu2295=)
|
rs369426786
|
0.00011
|
|
NM_001164508.2(NEB):c.8647G>A (p.Val2883Ile)
|
rs369283016
|
0.00011
|
|
NM_001164508.2(NEB):c.9620G>A (p.Arg3207His)
|
rs111841612
|
0.00011
|
|
NM_001164508.2(NEB):c.9854G>A (p.Arg3285His)
|
rs376932516
|
0.00011
|
|
NM_001256545.2(MEGF10):c.1050C>T (p.Cys350=)
|
rs201804815
|
0.00011
|
|
NM_001256545.2(MEGF10):c.1839G>A (p.Arg613=)
|
rs199930517
|
0.00011
|
|
NM_001256545.2(MEGF10):c.656C>T (p.Ala219Val)
|
rs945019709
|
0.00011
|
|
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)
|
rs201112096
|
0.00011
|
|
NM_001267550.2(TTN):c.100766-11T>C
|
rs761345673
|
0.00011
|
|
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)
|
rs372716177
|
0.00011
|
|
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)
|
rs377171054
|
0.00011
|
|
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr)
|
rs727504609
|
0.00011
|
|
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)
|
rs200716018
|
0.00011
|
|
NM_001267550.2(TTN):c.10759A>C (p.Thr3587Pro)
|
rs370496599
|
0.00011
|
|
NM_001267550.2(TTN):c.1213G>A (p.Ala405Thr)
|
rs112266780
|
0.00011
|
|
NM_001267550.2(TTN):c.1399-13C>T
|
rs377240802
|
0.00011
|
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
|
NM_001267550.2(TTN):c.15775+14C>T
|
rs151057960
|
0.00011
|
|
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=)
|
rs376037792
|
0.00011
|
|
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)
|
rs367821526
|
0.00011
|
|
NM_001267550.2(TTN):c.17478C>T (p.Thr5826=)
|
rs376968974
|
0.00011
|
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
|
NM_001267550.2(TTN):c.19715-4A>G
|
rs375009631
|
0.00011
|
|
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)
|
rs397517500
|
0.00011
|
|
NM_001267550.2(TTN):c.25063+18C>T
|
rs541890371
|
0.00011
|
|
NM_001267550.2(TTN):c.25065G>A (p.Ala8355=)
|
rs397517514
|
0.00011
|
|
NM_001267550.2(TTN):c.2775+18C>T
|
rs372384261
|
0.00011
|
|
NM_001267550.2(TTN):c.27915A>G (p.Arg9305=)
|
rs367900368
|
0.00011
|
|
NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln)
|
rs779015756
|
0.00011
|
|
NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro)
|
rs181395238
|
0.00011
|
|
NM_001267550.2(TTN):c.33561G>T (p.Val11187=)
|
rs763629416
|
0.00011
|
|
NM_001267550.2(TTN):c.34379-15A>G
|
rs764544769
|
0.00011
|
|
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=)
|
rs369095270
|
0.00011
|
|
NM_001267550.2(TTN):c.36281-12A>G
|
rs571414483
|
0.00011
|
|
NM_001267550.2(TTN):c.36810A>G (p.Glu12270=)
|
rs900028908
|
0.00011
|
|
NM_001267550.2(TTN):c.37369+8C>A
|
rs1489244862
|
0.00011
|
|
NM_001267550.2(TTN):c.3940A>G (p.Met1314Val)
|
rs764249439
|
0.00011
|
|
NM_001267550.2(TTN):c.40796C>T (p.Thr13599Ile)
|
rs370418677
|
0.00011
|
|
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp)
|
rs144672482
|
0.00011
|
|
NM_001267550.2(TTN):c.45617-13C>T
|
rs570853409
|
0.00011
|
|
NM_001267550.2(TTN):c.4668G>A (p.Pro1556=)
|
rs145709534
|
0.00011
|
|
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)
|
rs376273101
|
0.00011
|
|
NM_001267550.2(TTN):c.50157T>C (p.Ser16719=)
|
rs566449160
|
0.00011
|
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
|
NM_001267550.2(TTN):c.51437-9G>A
|
rs183060991
|
0.00011
|
|
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)
|
rs377571654
|
0.00011
|
|
NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala)
|
rs375309278
|
0.00011
|
|
NM_001267550.2(TTN):c.54078A>T (p.Ala18026=)
|
rs747908048
|
0.00011
|
|
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met)
|
rs116142642
|
0.00011
|
|
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu)
|
rs201194435
|
0.00011
|
|
NM_001267550.2(TTN):c.56034T>C (p.Thr18678=)
|
rs374547166
|
0.00011
|
|
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His)
|
rs572453785
|
0.00011
|
|
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)
|
rs181957743
|
0.00011
|
|
NM_001267550.2(TTN):c.59081G>A (p.Cys19694Tyr)
|
rs727505276
|
0.00011
|
|
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser)
|
rs200732032
|
0.00011
|
|
NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg)
|
rs764259290
|
0.00011
|
|
NM_001267550.2(TTN):c.61484G>A (p.Arg20495His)
|
rs775137607
|
0.00011
|
|
NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln)
|
rs201693851
|
0.00011
|
|
NM_001267550.2(TTN):c.65388T>G (p.Ala21796=)
|
rs369091096
|
0.00011
|
|
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp)
|
rs200155485
|
0.00011
|
|
NM_001267550.2(TTN):c.66051G>A (p.Val22017=)
|
rs587780981
|
0.00011
|
|
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile)
|
rs751354601
|
0.00011
|
|
NM_001267550.2(TTN):c.66844T>C (p.Tyr22282His)
|
rs745992545
|
0.00011
|
|
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys)
|
rs374492812
|
0.00011
|
|
NM_001267550.2(TTN):c.68211G>A (p.Ala22737=)
|
rs536824562
|
0.00011
|
|
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)
|
rs72646889
|
0.00011
|
|
NM_001267550.2(TTN):c.71155A>G (p.Ile23719Val)
|
rs201818722
|
0.00011
|
|
NM_001267550.2(TTN):c.72166C>T (p.Arg24056Cys)
|
rs372662393
|
0.00011
|
|
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)
|
rs377334665
|
0.00011
|
|
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)
|
rs779064962
|
0.00011
|
|
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=)
|
rs201380749
|
0.00011
|
|
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys)
|
rs368574470
|
0.00011
|
|
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val)
|
rs201095164
|
0.00011
|
|
NM_001267550.2(TTN):c.78063C>T (p.Pro26021=)
|
rs72648204
|
0.00011
|
|
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys)
|
rs185887755
|
0.00011
|
|
NM_001267550.2(TTN):c.8116+15A>C
|
rs757445533
|
0.00011
|
|
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile)
|
rs372784067
|
0.00011
|
|
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys)
|
rs368439674
|
0.00011
|
|
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg)
|
rs72648234
|
0.00011
|
|
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn)
|
rs376679796
|
0.00011
|
|
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp)
|
rs373900294
|
0.00011
|
|
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu)
|
rs370541682
|
0.00011
|
|
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys)
|
rs368932767
|
0.00011
|
|
NM_001267550.2(TTN):c.93255G>A (p.Pro31085=)
|
rs372611171
|
0.00011
|
|
NM_001267550.2(TTN):c.94593G>A (p.Ala31531=)
|
rs373301015
|
0.00011
|
|
NM_001267550.2(TTN):c.94980A>G (p.Glu31660=)
|
rs370769662
|
0.00011
|
|
NM_001267550.2(TTN):c.95196G>A (p.Pro31732=)
|
rs752309744
|
0.00011
|
|
NM_001267550.2(TTN):c.95991C>T (p.Ser31997=)
|
rs375176758
|
0.00011
|
|
NM_001267550.2(TTN):c.97193-16T>G
|
rs371317486
|
0.00011
|
|
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr)
|
rs373876117
|
0.00011
|
|
NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala)
|
rs556720151
|
0.00011
|
|
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)
|
rs373853269
|
0.00011
|
|
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys)
|
rs186244950
|
0.00011
|
|
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu)
|
rs200544701
|
0.00011
|
|
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)
|
rs374295768
|
0.00011
|
|
NM_001378030.1(CCDC78):c.109G>A (p.Ala37Thr)
|
rs144624081
|
0.00011
|
|
NM_001378030.1(CCDC78):c.425A>G (p.His142Arg)
|
rs147899031
|
0.00011
|
|
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp)
|
rs200865845
|
0.00011
|
|
NM_001382567.1(STIM1):c.1634+11G>A
|
rs199732479
|
0.00011
|
|
NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val)
|
rs750326949
|
0.00011
|
|
NM_001382567.1(STIM1):c.2053G>A (p.Ala685Thr)
|
rs201466902
|
0.00011
|
|
NM_001382567.1(STIM1):c.970-15C>G
|
rs188804715
|
0.00011
|
|
NM_001458.5(FLNC):c.1094A>G (p.Glu365Gly)
|
rs752027721
|
0.00011
|
|
NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser)
|
rs200928780
|
0.00011
|
|
NM_001458.5(FLNC):c.3960G>A (p.Glu1320=)
|
rs200717144
|
0.00011
|
|
NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr)
|
rs377141822
|
0.00011
|
|
NM_001458.5(FLNC):c.5892C>T (p.Asp1964=)
|
rs747546440
|
0.00011
|
|
NM_001458.5(FLNC):c.6387C>T (p.Thr2129=)
|
rs200182180
|
0.00011
|
|
NM_001843.4(CNTN1):c.1380-18A>G
|
rs370118779
|
0.00011
|
|
NM_001848.3(COL6A1):c.1462-19G>A
|
rs191393017
|
0.00011
|
|
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=)
|
rs760768642
|
0.00011
|
|
NM_001848.3(COL6A1):c.2435-18G>A
|
rs550691133
|
0.00011
|
|
NM_001848.3(COL6A1):c.2622G>A (p.Ala874=)
|
rs371763977
|
0.00011
|
|
NM_001848.3(COL6A1):c.355G>A (p.Ala119Thr)
|
rs149392243
|
0.00011
|
|
NM_001848.3(COL6A1):c.539A>G (p.Lys180Arg)
|
rs756141940
|
0.00011
|
|
NM_001848.3(COL6A1):c.624G>A (p.Thr208=)
|
rs573282005
|
0.00011
|
|
NM_001848.3(COL6A1):c.726C>T (p.Asn242=)
|
rs142102852
|
0.00011
|
|
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu)
|
rs142021066
|
0.00011
|
|
NM_001849.4(COL6A2):c.2293G>A (p.Glu765Lys)
|
rs369344885
|
0.00011
|
|
NM_001849.4(COL6A2):c.2628C>T (p.Arg876=)
|
rs372413216
|
0.00011
|
|
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His)
|
rs374384263
|
0.00011
|
|
NM_001849.4(COL6A2):c.2802C>T (p.Gly934=)
|
rs151295731
|
0.00011
|
|
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=)
|
rs532522222
|
0.00011
|
|
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=)
|
rs556385546
|
0.00011
|
|
NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln)
|
rs145352569
|
0.00011
|
|
NM_001927.4(DES):c.407T>A (p.Leu136His)
|
rs397516695
|
0.00011
|
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
|
NM_001927.4(DES):c.897+16C>T
|
rs370385097
|
0.00011
|
|
NM_002469.3(MYF6):c.575A>C (p.Asp192Ala)
|
rs146824657
|
0.00011
|
|
NM_003283.6(TNNT1):c.295T>C (p.Leu99=)
|
rs144259310
|
0.00011
|
|
NM_004168.4(SDHA):c.621+16T>C
|
rs769390635
|
0.00011
|
|
NM_004281.4(BAG3):c.1321A>G (p.Asn441Asp)
|
rs201181493
|
0.00011
|
|
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp)
|
rs556465096
|
0.00011
|
|
NM_004281.4(BAG3):c.508C>T (p.Arg170Trp)
|
rs200479768
|
0.00011
|
|
NM_004281.4(BAG3):c.909+16C>T
|
rs538411146
|
0.00011
|
|
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met)
|
rs115297652
|
0.00011
|
|
NM_004369.4(COL6A3):c.4383G>A (p.Arg1461=)
|
rs144612879
|
0.00011
|
|
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=)
|
rs116541926
|
0.00011
|
|
NM_004369.4(COL6A3):c.7174G>A (p.Gly2392Arg)
|
rs773673162
|
0.00011
|
|
NM_004369.4(COL6A3):c.7953G>A (p.Met2651Ile)
|
rs369537287
|
0.00011
|
|
NM_004369.4(COL6A3):c.843G>T (p.Val281=)
|
rs376201065
|
0.00011
|
|
NM_004369.4(COL6A3):c.8628G>A (p.Pro2876=)
|
rs143006225
|
0.00011
|
|
NM_004369.4(COL6A3):c.9117G>A (p.Thr3039=)
|
rs376780810
|
0.00011
|
|
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=)
|
rs183247300
|
0.00011
|
|
NM_004370.6(COL12A1):c.1883A>G (p.Lys628Arg)
|
rs752689011
|
0.00011
|
|
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn)
|
rs558571598
|
0.00011
|
|
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met)
|
rs201749138
|
0.00011
|
|
NM_004370.6(COL12A1):c.9165C>T (p.Asn3055=)
|
rs369646700
|
0.00011
|
|
NM_006790.3(MYOT):c.533G>A (p.Arg178His)
|
rs150293853
|
0.00011
|
|
NM_006790.3(MYOT):c.594G>A (p.Val198=)
|
rs372287923
|
0.00011
|
|
NM_007078.3(LDB3):c.404C>A (p.Thr135Asn)
|
rs1004651681
|
0.00011
|
|
NM_007078.3(LDB3):c.794G>A (p.Arg265His)
|
rs45458895
|
0.00011
|
|
NM_007078.3(LDB3):c.897-16G>C
|
rs45513100
|
0.00011
|
|
NM_017534.6(MYH2):c.2565G>A (p.Met855Ile)
|
rs184494954
|
0.00011
|
|
NM_017534.6(MYH2):c.3615T>C (p.Ser1205=)
|
rs751186949
|
0.00011
|
|
NM_017534.6(MYH2):c.4722C>T (p.Val1574=)
|
rs561798452
|
0.00011
|
|
NM_017534.6(MYH2):c.4971+8T>C
|
rs199537007
|
0.00011
|
|
NM_020451.3(SELENON):c.1295C>T (p.Pro432Leu)
|
rs199920149
|
0.00011
|
|
NM_020451.3(SELENON):c.1388-3C>T
|
rs754894330
|
0.00011
|
|
NM_020451.3(SELENON):c.420C>G (p.Ala140=)
|
rs778551841
|
0.00011
|
|
NM_032790.4(ORAI1):c.139C>T (p.Pro47Ser)
|
rs782786977
|
0.00011
|
|
NM_138638.5(CFL2):c.267C>T (p.Tyr89=)
|
rs142164698
|
0.00011
|
|
NM_139343.3(BIN1):c.1003-10C>T
|
rs763361398
|
0.00011
|
|
NM_139343.3(BIN1):c.1131+14G>A
|
rs767192904
|
0.00011
|
|
NM_139343.3(BIN1):c.699-13C>T
|
rs373662459
|
0.00011
|
|
NM_139343.3(BIN1):c.775-15C>T
|
rs367719456
|
0.00011
|
|
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys)
|
rs374565677
|
0.00011
|
|
NM_152393.4(KLHL40):c.1162C>T (p.Leu388=)
|
rs371586836
|
0.00011
|
|
NM_152393.4(KLHL40):c.1355T>C (p.Val452Ala)
|
rs140389534
|
0.00011
|
|
NM_152393.4(KLHL40):c.1636G>C (p.Glu546Gln)
|
rs137937929
|
0.00011
|
|
NM_152393.4(KLHL40):c.88G>A (p.Gly30Ser)
|
rs140056720
|
0.00011
|
|
NM_198859.4(PRICKLE2):c.972C>T (p.Ser324=)
|
rs143141434
|
0.00011
|
|
NM_213720.3(CHCHD10):c.410-12C>T
|
rs750841860
|
0.00011
|
|
NM_213720.3(CHCHD10):c.410-17T>G
|
rs754306778
|
0.00011
|
|
NM_213720.3(CHCHD10):c.410-19G>C
|
rs754492535
|
0.00011
|
|
NM_000036.3(AMPD1):c.440G>A (p.Arg147His)
|
rs147852547
|
0.00010
|
|
NM_000182.5(HADHA):c.810G>A (p.Ala270=)
|
rs376632479
|
0.00010
|
|
NM_000183.3(HADHB):c.1A>G (p.Met1Val)
|
rs763333945
|
0.00010
|
|
NM_000252.3(MTM1):c.86G>A (p.Arg29Gln)
|
rs782072494
|
0.00010
|
|
NM_001101362.3(KBTBD13):c.359del (p.Asp120fs)
|
rs903604256
|
0.00010
|
|
NM_001101362.3(KBTBD13):c.477C>G (p.Ala159=)
|
rs1052175397
|
0.00010
|
|
NM_001164508.2(NEB):c.10141G>A (p.Asp3381Asn)
|
rs374760449
|
0.00010
|
|
NM_001164508.2(NEB):c.10181T>C (p.Ile3394Thr)
|
rs376182104
|
0.00010
|
|
NM_001164508.2(NEB):c.1182A>C (p.Thr394=)
|
rs186233985
|
0.00010
|
|
NM_001164508.2(NEB):c.13G>A (p.Glu5Lys)
|
rs374390581
|
0.00010
|
|
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His)
|
rs773239926
|
0.00010
|
|
NM_001164508.2(NEB):c.18224A>C (p.His6075Pro)
|
rs768813228
|
0.00010
|
|
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys)
|
rs374606967
|
0.00010
|
|
NM_001164508.2(NEB):c.19406G>A (p.Arg6469Gln)
|
rs556624010
|
0.00010
|
|
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg)
|
rs190605644
|
0.00010
|
|
NM_001164508.2(NEB):c.20158-5C>T
|
rs376869270
|
0.00010
|
|
NM_001164508.2(NEB):c.21525C>T (p.Ile7175=)
|
rs369183371
|
0.00010
|
|
NM_001164508.2(NEB):c.23055G>A (p.Gly7685=)
|
rs563896790
|
0.00010
|
|
NM_001164508.2(NEB):c.24873G>A (p.Thr8291=)
|
rs779321695
|
0.00010
|
|
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile)
|
rs117861109
|
0.00010
|
|
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val)
|
rs372217127
|
0.00010
|
|
NM_001164508.2(NEB):c.2630A>G (p.Gln877Arg)
|
rs373892420
|
0.00010
|
|
NM_001164508.2(NEB):c.4032G>T (p.Val1344=)
|
rs373748794
|
0.00010
|
|
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile)
|
rs199662534
|
0.00010
|
|
NM_001164508.2(NEB):c.4938C>T (p.Asn1646=)
|
rs765208384
|
0.00010
|
|
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr)
|
rs751494785
|
0.00010
|
|
NM_001164508.2(NEB):c.5967C>T (p.Asn1989=)
|
rs371151246
|
0.00010
|
|
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=)
|
rs540542570
|
0.00010
|
|
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His)
|
rs373589529
|
0.00010
|
|
NM_001164508.2(NEB):c.8019C>T (p.Leu2673=)
|
rs755883171
|
0.00010
|
|
NM_001164508.2(NEB):c.9271G>A (p.Asp3091Asn)
|
rs764110936
|
0.00010
|
|
NM_001164508.2(NEB):c.9578A>G (p.Glu3193Gly)
|
rs369985728
|
0.00010
|
|
NM_001256545.2(MEGF10):c.3025+14T>C
|
rs745748417
|
0.00010
|
|
NM_001267550.2(TTN):c.100058T>C (p.Ile33353Thr)
|
rs138234724
|
0.00010
|
|
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln)
|
rs201954720
|
0.00010
|
|
NM_001267550.2(TTN):c.104202A>G (p.Pro34734=)
|
rs777542393
|
0.00010
|
|
NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys)
|
rs563430855
|
0.00010
|
|
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)
|
rs372521529
|
0.00010
|
|
NM_001267550.2(TTN):c.106788A>T (p.Thr35596=)
|
rs369896045
|
0.00010
|
|
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)
|
rs377337528
|
0.00010
|
|
NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu)
|
rs201565932
|
0.00010
|
|
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter)
|
rs370912401
|
0.00010
|
|
NM_001267550.2(TTN):c.12957G>A (p.Ala4319=)
|
rs762330685
|
0.00010
|
|
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)
|
rs142414432
|
0.00010
|
|
NM_001267550.2(TTN):c.13479T>G (p.Pro4493=)
|
rs368698752
|
0.00010
|
|
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)
|
rs371552518
|
0.00010
|
|
NM_001267550.2(TTN):c.1815T>C (p.Thr605=)
|
rs757604614
|
0.00010
|
|
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)
|
rs369544339
|
0.00010
|
|
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser)
|
rs571231816
|
0.00010
|
|
NM_001267550.2(TTN):c.21404-8C>G
|
rs761542135
|
0.00010
|
|
NM_001267550.2(TTN):c.2151C>T (p.Pro717=)
|
rs374570732
|
0.00010
|
|
NM_001267550.2(TTN):c.22473C>T (p.Cys7491=)
|
rs566454891
|
0.00010
|
|
NM_001267550.2(TTN):c.22545C>G (p.Pro7515=)
|
rs373496180
|
0.00010
|
|
NM_001267550.2(TTN):c.24020G>A (p.Arg8007Gln)
|
rs765789516
|
0.00010
|
|
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His)
|
rs397517510
|
0.00010
|
|
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg)
|
rs371512914
|
0.00010
|
|
NM_001267550.2(TTN):c.25937G>A (p.Arg8646His)
|
rs144587343
|
0.00010
|
|
NM_001267550.2(TTN):c.26283C>T (p.Gly8761=)
|
rs376046284
|
0.00010
|
|
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly)
|
rs200165636
|
0.00010
|
|
NM_001267550.2(TTN):c.26928G>A (p.Leu8976=)
|
rs370973715
|
0.00010
|
|
NM_001267550.2(TTN):c.29566C>T (p.Leu9856=)
|
rs371542947
|
0.00010
|
|
NM_001267550.2(TTN):c.31762+4C>T
|
rs368538884
|
0.00010
|
|
NM_001267550.2(TTN):c.34954G>T (p.Val11652Leu)
|
rs371752190
|
0.00010
|
|
NM_001267550.2(TTN):c.35959+5C>T
|
rs758684276
|
0.00010
|
|
NM_001267550.2(TTN):c.37543+5G>T
|
rs570767771
|
0.00010
|
|
NM_001267550.2(TTN):c.3864T>G (p.Ala1288=)
|
rs368702156
|
0.00010
|
|
NM_001267550.2(TTN):c.39211+8C>T
|
rs778828307
|
0.00010
|
|
NM_001267550.2(TTN):c.39606A>G (p.Pro13202=)
|
rs372356060
|
0.00010
|
|
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu)
|
rs537578226
|
0.00010
|
|
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser)
|
rs144609506
|
0.00010
|
|
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu)
|
rs576593161
|
0.00010
|
|
NM_001267550.2(TTN):c.43G>A (p.Val15Ile)
|
rs201857541
|
0.00010
|
|
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln)
|
rs369709751
|
0.00010
|
|
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met)
|
rs540115992
|
0.00010
|
|
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr)
|
rs730880239
|
0.00010
|
|
NM_001267550.2(TTN):c.49278T>C (p.Ala16426=)
|
rs372633280
|
0.00010
|
|
NM_001267550.2(TTN):c.50297G>A (p.Arg16766Gln)
|
rs747224934
|
0.00010
|
|
NM_001267550.2(TTN):c.5048G>A (p.Arg1683Gln)
|
rs368122582
|
0.00010
|
|
NM_001267550.2(TTN):c.53958C>T (p.Ile17986=)
|
rs192319879
|
0.00010
|
|
NM_001267550.2(TTN):c.5577G>T (p.Arg1859Ser)
|
rs551538420
|
0.00010
|
|
NM_001267550.2(TTN):c.56051-12T>A
|
rs147192175
|
0.00010
|
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
|
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)
|
rs369476725
|
0.00010
|
|
NM_001267550.2(TTN):c.59736T>C (p.Tyr19912=)
|
rs184969946
|
0.00010
|
|
NM_001267550.2(TTN):c.62546C>T (p.Thr20849Met)
|
rs372685222
|
0.00010
|
|
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His)
|
rs202240487
|
0.00010
|
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00010
|
|
NM_001267550.2(TTN):c.65731A>G (p.Lys21911Glu)
|
rs372565084
|
0.00010
|
|
NM_001267550.2(TTN):c.66123A>G (p.Pro22041=)
|
rs727504190
|
0.00010
|
|
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln)
|
rs200146608
|
0.00010
|
|
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val)
|
rs199583938
|
0.00010
|
|
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser)
|
rs200493270
|
0.00010
|
|
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys)
|
rs147580120
|
0.00010
|
|
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00010
|
|
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn)
|
rs192962624
|
0.00010
|
|
NM_001267550.2(TTN):c.73783G>A (p.Ala24595Thr)
|
rs543275318
|
0.00010
|
|
NM_001267550.2(TTN):c.76047T>C (p.Ile25349=)
|
rs369320393
|
0.00010
|
|
NM_001267550.2(TTN):c.77706C>T (p.Asp25902=)
|
rs375764395
|
0.00010
|
|
NM_001267550.2(TTN):c.7881A>G (p.Thr2627=)
|
rs73973146
|
0.00010
|
|
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile)
|
rs371362606
|
0.00010
|
|
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)
|
rs397517719
|
0.00010
|
|
NM_001267550.2(TTN):c.81869G>C (p.Gly27290Ala)
|
rs200240728
|
0.00010
|
|
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr)
|
rs72648215
|
0.00010
|
|
NM_001267550.2(TTN):c.84448T>C (p.Tyr28150His)
|
rs397517727
|
0.00010
|
|
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)
|
rs200709344
|
0.00010
|
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
|
NM_001267550.2(TTN):c.90104G>A (p.Arg30035His)
|
rs199895320
|
0.00010
|
|
NM_001267550.2(TTN):c.91384C>T (p.Arg30462Trp)
|
rs373623340
|
0.00010
|
|
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)
|
rs200854704
|
0.00010
|
|
NM_001267550.2(TTN):c.92595A>G (p.Leu30865=)
|
rs192086736
|
0.00010
|
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
|
NM_001267550.2(TTN):c.98807G>A (p.Arg32936His)
|
rs774296358
|
0.00010
|
|
NM_001267550.2(TTN):c.99865+13T>A
|
rs572802873
|
0.00010
|
|
NM_001378030.1(CCDC78):c.468T>G (p.Asn156Lys)
|
rs370998388
|
0.00010
|
|
NM_001378030.1(CCDC78):c.668G>A (p.Arg223His)
|
rs373278585
|
0.00010
|
|
NM_001458.5(FLNC):c.1102G>A (p.Val368Met)
|
rs781718076
|
0.00010
|
|
NM_001458.5(FLNC):c.1813+12G>A
|
rs750404224
|
0.00010
|
|
NM_001458.5(FLNC):c.2841C>T (p.Gly947=)
|
rs547060988
|
0.00010
|
|
NM_001458.5(FLNC):c.31G>A (p.Gly11Ser)
|
rs370512642
|
0.00010
|
|
NM_001458.5(FLNC):c.4921G>A (p.Val1641Ile)
|
rs575068215
|
0.00010
|
|
NM_001458.5(FLNC):c.4952-9G>T
|
rs747821376
|
0.00010
|
|
NM_001458.5(FLNC):c.5445C>T (p.Thr1815=)
|
rs758995789
|
0.00010
|
|
NM_001458.5(FLNC):c.5760G>A (p.Pro1920=)
|
rs375912712
|
0.00010
|
|
NM_001458.5(FLNC):c.602-11C>T
|
rs371111092
|
0.00010
|
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
|
NM_001458.5(FLNC):c.7384+5G>A
|
rs766570592
|
0.00010
|
|
NM_001458.5(FLNC):c.7785G>A (p.Pro2595=)
|
rs780670412
|
0.00010
|
|
NM_001843.4(CNTN1):c.2595G>C (p.Ser865=)
|
rs145714777
|
0.00010
|
|
NM_001843.4(CNTN1):c.2824-6T>C
|
rs201098244
|
0.00010
|
|
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=)
|
rs762625409
|
0.00010
|
|
NM_001848.3(COL6A1):c.2304G>C (p.Gln768His)
|
rs376567898
|
0.00010
|
|
NM_001848.3(COL6A1):c.2553C>T (p.Phe851=)
|
rs370632963
|
0.00010
|
|
NM_001848.3(COL6A1):c.2611G>A (p.Val871Met)
|
rs374685631
|
0.00010
|
|
NM_001848.3(COL6A1):c.2994C>T (p.Tyr998=)
|
rs148405880
|
0.00010
|
|
NM_001848.3(COL6A1):c.705C>T (p.Ile235=)
|
rs536786554
|
0.00010
|
|
NM_001848.3(COL6A1):c.931-5C>T
|
rs371841573
|
0.00010
|
|
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=)
|
rs144136807
|
0.00010
|
|
NM_001849.4(COL6A2):c.1332+3G>A
|
rs201007156
|
0.00010
|
|
NM_001849.4(COL6A2):c.189G>A (p.Thr63=)
|
rs143583433
|
0.00010
|
|
NM_001849.4(COL6A2):c.1911C>T (p.Phe637=)
|
rs746339542
|
0.00010
|
|
NM_001849.4(COL6A2):c.2817C>T (p.His939=)
|
rs368164391
|
0.00010
|
|
NM_001849.4(COL6A2):c.2848G>A (p.Gly950Ser)
|
rs147054208
|
0.00010
|
|
NM_001849.4(COL6A2):c.3003C>A (p.Asp1001Glu)
|
rs756253502
|
0.00010
|
|
NM_001849.4(COL6A2):c.446G>A (p.Arg149His)
|
rs143891262
|
0.00010
|
|
NM_004369.4(COL6A3):c.1120G>A (p.Val374Met)
|
rs780353083
|
0.00010
|
|
NM_004369.4(COL6A3):c.1562C>T (p.Ser521Leu)
|
rs115881121
|
0.00010
|
|
NM_004369.4(COL6A3):c.186A>G (p.Leu62=)
|
rs773733833
|
0.00010
|
|
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr)
|
rs142719863
|
0.00010
|
|
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=)
|
rs116239777
|
0.00010
|
|
NM_004369.4(COL6A3):c.3992G>A (p.Arg1331His)
|
rs751772951
|
0.00010
|
|
NM_004369.4(COL6A3):c.4828A>G (p.Met1610Val)
|
rs778808432
|
0.00010
|
|
NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=)
|
rs202086524
|
0.00010
|
|
NM_004369.4(COL6A3):c.543T>C (p.Asp181=)
|
rs898779231
|
0.00010
|
|
NM_004369.4(COL6A3):c.5838+12C>A
|
rs117734465
|
0.00010
|
|
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp)
|
rs146546544
|
0.00010
|
|
NM_004369.4(COL6A3):c.6263C>T (p.Pro2088Leu)
|
rs113896755
|
0.00010
|
|
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His)
|
rs369169235
|
0.00010
|
|
NM_004369.4(COL6A3):c.8846C>T (p.Pro2949Leu)
|
rs376021820
|
0.00010
|
|
NM_004370.6(COL12A1):c.1050T>C (p.Val350=)
|
rs372113789
|
0.00010
|
|
NM_004370.6(COL12A1):c.1164G>A (p.Thr388=)
|
rs373522815
|
0.00010
|
|
NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys)
|
rs530680231
|
0.00010
|
|
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met)
|
rs370767331
|
0.00010
|
|
NM_004370.6(COL12A1):c.732G>A (p.Val244=)
|
rs200141559
|
0.00010
|
|
NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=)
|
rs190984968
|
0.00010
|
|
NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala)
|
rs376189614
|
0.00010
|
|
NM_006790.3(MYOT):c.1324+11C>G
|
rs773002668
|
0.00010
|
|
NM_006790.3(MYOT):c.359A>G (p.Tyr120Cys)
|
rs141710153
|
0.00010
|
|
NM_007078.3(LDB3):c.273G>A (p.Thr91=)
|
rs45613039
|
0.00010
|
|
NM_007078.3(LDB3):c.891G>A (p.Arg297=)
|
rs374336814
|
0.00010
|
|
NM_017534.6(MYH2):c.1566C>T (p.Ala522=)
|
rs142383679
|
0.00010
|
|
NM_017534.6(MYH2):c.1959G>A (p.Val653=)
|
rs376346567
|
0.00010
|
|
NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn)
|
rs202198533
|
0.00010
|
|
NM_017534.6(MYH2):c.3459C>T (p.Ser1153=)
|
rs142095822
|
0.00010
|
|
NM_017534.6(MYH2):c.5264G>A (p.Arg1755His)
|
rs144414607
|
0.00010
|
|
NM_017534.6(MYH2):c.5577+12A>G
|
rs368119845
|
0.00010
|
|
NM_017534.6(MYH2):c.741+15C>T
|
rs374034315
|
0.00010
|
|
NM_138638.5(CFL2):c.355A>T (p.Ser119Cys)
|
rs1353965924
|
0.00010
|
|
NM_139343.3(BIN1):c.1047G>A (p.Pro349=)
|
rs148945502
|
0.00010
|
|
NM_139343.3(BIN1):c.857+4C>T
|
rs61748156
|
0.00010
|
|
NM_139343.3(BIN1):c.942C>T (p.His314=)
|
rs370911793
|
0.00010
|
|
NM_145064.3(STAC3):c.258C>T (p.Asn86=)
|
rs148939626
|
0.00010
|
|
NM_145064.3(STAC3):c.518G>A (p.Arg173His)
|
rs187407788
|
0.00010
|
|
NM_145064.3(STAC3):c.941C>T (p.Thr314Met)
|
rs146430404
|
0.00010
|
|
NM_198859.4(PRICKLE2):c.1395C>T (p.Ile465=)
|
rs759852197
|
0.00010
|
|
NM_198859.4(PRICKLE2):c.1425G>A (p.Gly475=)
|
rs147177975
|
0.00010
|
|
NM_198859.4(PRICKLE2):c.1573A>G (p.Ser525Gly)
|
rs755802840
|
0.00010
|
|
NM_000036.3(AMPD1):c.1388+5G>A
|
rs374144421
|
0.00009
|
|
NM_000036.3(AMPD1):c.1974+9T>C
|
rs368331901
|
0.00009
|
|
NM_000036.3(AMPD1):c.2113T>C (p.Tyr705His)
|
rs377325321
|
0.00009
|
|
NM_000036.3(AMPD1):c.424C>T (p.Arg142Trp)
|
rs369963978
|
0.00009
|
|
NM_000182.5(HADHA):c.1284C>T (p.Asn428=)
|
rs199535840
|
0.00009
|
|
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val)
|
rs369588406
|
0.00009
|
|
NM_000182.5(HADHA):c.1886-16T>C
|
rs376113444
|
0.00009
|
|
NM_000182.5(HADHA):c.2147-8C>G
|
rs368976628
|
0.00009
|
|
NM_000182.5(HADHA):c.918+19T>C
|
rs372010520
|
0.00009
|
|
NM_001100.4(ACTA1):c.867C>T (p.Ile289=)
|
rs140074813
|
0.00009
|
|
NM_001101362.3(KBTBD13):c.1214C>T (p.Thr405Met)
|
rs760429732
|
0.00009
|
|
NM_001164508.2(NEB):c.10026G>C (p.Lys3342Asn)
|
rs117636679
|
0.00009
|
|
NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys)
|
rs539139958
|
0.00009
|
|
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr)
|
rs200270156
|
0.00009
|
|
NM_001164508.2(NEB):c.1152+5G>A
|
rs111404077
|
0.00009
|
|
NM_001164508.2(NEB):c.11540C>A (p.Thr3847Asn)
|
rs766876980
|
0.00009
|
|
NM_001164508.2(NEB):c.11559T>C (p.Asn3853=)
|
rs369429046
|
0.00009
|
|
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=)
|
rs367638234
|
0.00009
|
|
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly)
|
rs1475846023
|
0.00009
|
|
NM_001164508.2(NEB):c.13638C>T (p.Ile4546=)
|
rs1225197770
|
0.00009
|
|
NM_001164508.2(NEB):c.17215G>A (p.Asp5739Asn)
|
rs200672818
|
0.00009
|
|
NM_001164508.2(NEB):c.17581G>A (p.Asp5861Asn)
|
rs375837416
|
0.00009
|
|
NM_001164508.2(NEB):c.17844+7C>T
|
rs373259828
|
0.00009
|
|
NM_001164508.2(NEB):c.18278A>T (p.Asn6093Ile)
|
rs370695020
|
0.00009
|
|
NM_001164508.2(NEB):c.18866G>A (p.Arg6289Gln)
|
rs575958060
|
0.00009
|
|
NM_001164508.2(NEB):c.18870C>T (p.Asn6290=)
|
rs200122580
|
0.00009
|
|
NM_001164508.2(NEB):c.18939C>T (p.Tyr6313=)
|
rs201622661
|
0.00009
|
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
|
NM_001164508.2(NEB):c.19803G>A (p.Val6601=)
|
rs374957115
|
0.00009
|
|
NM_001164508.2(NEB):c.20211C>T (p.Pro6737=)
|
rs771038288
|
0.00009
|
|
NM_001164508.2(NEB):c.2064A>G (p.Pro688=)
|
rs764952901
|
0.00009
|
|
NM_001164508.2(NEB):c.20893-11T>C
|
rs201173663
|
0.00009
|
|
NM_001164508.2(NEB):c.21027G>A (p.Gln7009=)
|
rs758282270
|
0.00009
|
|
NM_001164508.2(NEB):c.21418-17T>C
|
rs374003090
|
0.00009
|
|
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys)
|
rs745791097
|
0.00009
|
|
NM_001164508.2(NEB):c.22590+2T>C
|
rs200449517
|
0.00009
|
|
NM_001164508.2(NEB):c.23017-3T>C
|
rs111314898
|
0.00009
|
|
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe)
|
rs201028196
|
0.00009
|
|
NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser)
|
rs369602540
|
0.00009
|
|
NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys)
|
rs372117694
|
0.00009
|
|
NM_001164508.2(NEB):c.23835+13A>G
|
rs368353531
|
0.00009
|
|
NM_001164508.2(NEB):c.24114+1G>A
|
rs755239192
|
0.00009
|
|
NM_001164508.2(NEB):c.24570C>T (p.Asn8190=)
|
rs201566336
|
0.00009
|
|
NM_001164508.2(NEB):c.24623T>G (p.Phe8208Cys)
|
rs376664167
|
0.00009
|
|
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His)
|
rs139333406
|
0.00009
|
|
NM_001164508.2(NEB):c.25405-7C>T
|
rs372113031
|
0.00009
|
|
NM_001164508.2(NEB):c.4607G>A (p.Ser1536Asn)
|
rs182143534
|
0.00009
|
|
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu)
|
rs78420579
|
0.00009
|
|
NM_001164508.2(NEB):c.7914C>T (p.Ser2638=)
|
rs373353657
|
0.00009
|
|
NM_001164508.2(NEB):c.8800C>T (p.Arg2934Cys)
|
rs771598053
|
0.00009
|
|
NM_001164508.2(NEB):c.9345C>T (p.His3115=)
|
rs367739638
|
0.00009
|
|
NM_001164508.2(NEB):c.9832-7A>T
|
rs778183317
|
0.00009
|
|
NM_001164508.2(NEB):c.9878G>C (p.Gly3293Ala)
|
rs199890164
|
0.00009
|
|
NM_001256545.2(MEGF10):c.1130+13T>C
|
rs746019129
|
0.00009
|
|
NM_001256545.2(MEGF10):c.1726C>T (p.Arg576Cys)
|
rs143087353
|
0.00009
|
|
NM_001256545.2(MEGF10):c.1926C>T (p.Thr642=)
|
rs142667981
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2157T>C (p.His719=)
|
rs374544972
|
0.00009
|
|
NM_001256545.2(MEGF10):c.219-7T>C
|
rs372782960
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2289C>T (p.Asn763=)
|
rs151316424
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2442T>C (p.Thr814=)
|
rs370850456
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2457C>T (p.Cys819=)
|
rs1278381772
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2568C>T (p.Ile856=)
|
rs778716392
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2892T>C (p.Asn964=)
|
rs376690442
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2943G>A (p.Pro981=)
|
rs371253627
|
0.00009
|
|
NM_001256545.2(MEGF10):c.864G>A (p.Thr288=)
|
rs139531628
|
0.00009
|
|
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)
|
rs200675195
|
0.00009
|
|
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr)
|
rs397517786
|
0.00009
|
|
NM_001267550.2(TTN):c.103992C>G (p.Leu34664=)
|
rs375120372
|
0.00009
|
|
NM_001267550.2(TTN):c.104499G>A (p.Ala34833=)
|
rs375992557
|
0.00009
|
|
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met)
|
rs552058608
|
0.00009
|
|
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=)
|
rs542575761
|
0.00009
|
|
NM_001267550.2(TTN):c.1245+20G>T
|
rs371234481
|
0.00009
|
|
NM_001267550.2(TTN):c.13458C>T (p.Asp4486=)
|
rs748885610
|
0.00009
|
|
NM_001267550.2(TTN):c.13689C>T (p.Asp4563=)
|
rs369466156
|
0.00009
|
|
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)
|
rs183328495
|
0.00009
|
|
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=)
|
rs370208081
|
0.00009
|
|
NM_001267550.2(TTN):c.14050G>A (p.Gly4684Arg)
|
rs377579941
|
0.00009
|
|
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr)
|
rs143030869
|
0.00009
|
|
NM_001267550.2(TTN):c.16057C>A (p.Arg5353=)
|
rs267599069
|
0.00009
|
|
NM_001267550.2(TTN):c.16581C>T (p.Val5527=)
|
rs373179717
|
0.00009
|
|
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys)
|
rs374682077
|
0.00009
|
|
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu)
|
rs370889765
|
0.00009
|
|
NM_001267550.2(TTN):c.17183-7C>T
|
rs371785683
|
0.00009
|
|
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=)
|
rs200984007
|
0.00009
|
|
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val)
|
rs72648945
|
0.00009
|
|
NM_001267550.2(TTN):c.18307+12A>G
|
rs376899412
|
0.00009
|
|
NM_001267550.2(TTN):c.186C>T (p.Arg62=)
|
rs528853682
|
0.00009
|
|
NM_001267550.2(TTN):c.2061A>G (p.Gln687=)
|
rs188680791
|
0.00009
|
|
NM_001267550.2(TTN):c.207C>T (p.Ala69=)
|
rs150548328
|
0.00009
|
|
NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile)
|
rs371267140
|
0.00009
|
|
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=)
|
rs752620885
|
0.00009
|
|
NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr)
|
rs144639994
|
0.00009
|
|
NM_001267550.2(TTN):c.22683T>C (p.Tyr7561=)
|
rs532700134
|
0.00009
|
|
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=)
|
rs201904848
|
0.00009
|
|
NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr)
|
rs143444636
|
0.00009
|
|
NM_001267550.2(TTN):c.24227-16G>A
|
rs377340591
|
0.00009
|
|
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=)
|
rs556205722
|
0.00009
|
|
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=)
|
rs375022009
|
0.00009
|
|
NM_001267550.2(TTN):c.2611G>T (p.Val871Leu)
|
rs72647861
|
0.00009
|
|
NM_001267550.2(TTN):c.26674G>A (p.Val8892Ile)
|
rs747832107
|
0.00009
|
|
NM_001267550.2(TTN):c.27049+10C>A
|
rs780979988
|
0.00009
|
|
NM_001267550.2(TTN):c.27328+14C>T
|
rs781624389
|
0.00009
|
|
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)
|
rs371163094
|
0.00009
|
|
NM_001267550.2(TTN):c.29325C>T (p.Asn9775=)
|
rs377442695
|
0.00009
|
|
NM_001267550.2(TTN):c.30033A>G (p.Gln10011=)
|
rs768497622
|
0.00009
|
|
NM_001267550.2(TTN):c.30309T>C (p.Phe10103=)
|
rs762141482
|
0.00009
|
|
NM_001267550.2(TTN):c.31208-13G>A
|
rs377135196
|
0.00009
|
|
NM_001267550.2(TTN):c.31391G>A (p.Arg10464Gln)
|
rs727504757
|
0.00009
|
|
NM_001267550.2(TTN):c.31875A>C (p.Thr10625=)
|
rs182934463
|
0.00009
|
|
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His)
|
rs368777046
|
0.00009
|
|
NM_001267550.2(TTN):c.33418+12C>A
|
rs199772748
|
0.00009
|
|
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala)
|
rs199561793
|
0.00009
|
|
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala)
|
rs564353179
|
0.00009
|
|
NM_001267550.2(TTN):c.36159G>A (p.Thr12053=)
|
rs773862719
|
0.00009
|
|
NM_001267550.2(TTN):c.36390C>T (p.Ile12130=)
|
rs564173285
|
0.00009
|
|
NM_001267550.2(TTN):c.36816A>T (p.Val12272=)
|
rs1466177296
|
0.00009
|
|
NM_001267550.2(TTN):c.38791+12T>C
|
rs369262110
|
0.00009
|
|
NM_001267550.2(TTN):c.39043+16T>C
|
rs969673021
|
0.00009
|
|
NM_001267550.2(TTN):c.39212-17A>G
|
rs770122983
|
0.00009
|
|
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met)
|
rs766145596
|
0.00009
|
|
NM_001267550.2(TTN):c.41019G>A (p.Pro13673=)
|
rs762470432
|
0.00009
|
|
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile)
|
rs375474669
|
0.00009
|
|
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=)
|
rs369128249
|
0.00009
|
|
NM_001267550.2(TTN):c.41982T>C (p.Pro13994=)
|
rs777609108
|
0.00009
|
|
NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=)
|
rs369959066
|
0.00009
|
|
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)
|
rs369800903
|
0.00009
|
|
NM_001267550.2(TTN):c.45780A>G (p.Leu15260=)
|
rs778798573
|
0.00009
|
|
NM_001267550.2(TTN):c.46697-14A>C
|
rs371310030
|
0.00009
|
|
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=)
|
rs573218266
|
0.00009
|
|
NM_001267550.2(TTN):c.47705G>A (p.Gly15902Glu)
|
rs561284948
|
0.00009
|
|
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val)
|
rs199768159
|
0.00009
|
|
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala)
|
rs374543277
|
0.00009
|
|
NM_001267550.2(TTN):c.50480G>A (p.Arg16827Gln)
|
rs138896856
|
0.00009
|
|
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala)
|
rs370067597
|
0.00009
|
|
NM_001267550.2(TTN):c.51642G>C (p.Glu17214Asp)
|
rs372443762
|
0.00009
|
|
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)
|
rs142395261
|
0.00009
|
|
NM_001267550.2(TTN):c.51896C>T (p.Pro17299Leu)
|
rs369648778
|
0.00009
|
|
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=)
|
rs370450339
|
0.00009
|
|
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val)
|
rs549478203
|
0.00009
|
|
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly)
|
rs150725992
|
0.00009
|
|
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro)
|
rs369678018
|
0.00009
|
|
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)
|
rs200100660
|
0.00009
|
|
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met)
|
rs368425364
|
0.00009
|
|
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln)
|
rs727503603
|
0.00009
|
|
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp)
|
rs201623791
|
0.00009
|
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
|
NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp)
|
rs368026488
|
0.00009
|
|
NM_001267550.2(TTN):c.59073T>C (p.Asp19691=)
|
rs775577598
|
0.00009
|
|
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln)
|
rs374914334
|
0.00009
|
|
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His)
|
rs200455644
|
0.00009
|
|
NM_001267550.2(TTN):c.61337G>A (p.Arg20446His)
|
rs368278158
|
0.00009
|
|
NM_001267550.2(TTN):c.63333T>G (p.Ser21111=)
|
rs780374544
|
0.00009
|
|
NM_001267550.2(TTN):c.63508+14T>C
|
rs754606417
|
0.00009
|
|
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)
|
rs372812312
|
0.00009
|
|
NM_001267550.2(TTN):c.64005G>A (p.Glu21335=)
|
rs749889687
|
0.00009
|
|
NM_001267550.2(TTN):c.64396+14G>A
|
rs754946782
|
0.00009
|
|
NM_001267550.2(TTN):c.65499A>G (p.Arg21833=)
|
rs369255906
|
0.00009
|
|
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=)
|
rs374858668
|
0.00009
|
|
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)
|
rs72646868
|
0.00009
|
|
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn)
|
rs368924655
|
0.00009
|
|
NM_001267550.2(TTN):c.67057+9A>G
|
rs539161527
|
0.00009
|
|
NM_001267550.2(TTN):c.68225-5T>C
|
rs758273663
|
0.00009
|
|
NM_001267550.2(TTN):c.69638G>A (p.Arg23213His)
|
rs374883884
|
0.00009
|
|
NM_001267550.2(TTN):c.7058-17C>T
|
rs572098454
|
0.00009
|
|
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)
|
rs55992239
|
0.00009
|
|
NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys)
|
rs370474301
|
0.00009
|
|
NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser)
|
rs373204984
|
0.00009
|
|
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr)
|
rs759110420
|
0.00009
|
|
NM_001267550.2(TTN):c.75291A>G (p.Thr25097=)
|
rs375878340
|
0.00009
|
|
NM_001267550.2(TTN):c.77707G>A (p.Val25903Ile)
|
rs570615498
|
0.00009
|
|
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp)
|
rs534003014
|
0.00009
|
|
NM_001267550.2(TTN):c.82488C>T (p.Asp27496=)
|
rs373909196
|
0.00009
|
|
NM_001267550.2(TTN):c.83059C>T (p.Leu27687=)
|
rs200992636
|
0.00009
|
|
NM_001267550.2(TTN):c.83571C>T (p.Pro27857=)
|
rs368025526
|
0.00009
|
|
NM_001267550.2(TTN):c.83820C>T (p.Asn27940=)
|
rs727503555
|
0.00009
|
|
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His)
|
rs373532064
|
0.00009
|
|
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys)
|
rs199501185
|
0.00009
|
|
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val)
|
rs373738818
|
0.00009
|
|
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=)
|
rs531445644
|
0.00009
|
|
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)
|
rs397517746
|
0.00009
|
|
NM_001267550.2(TTN):c.90642A>T (p.Ala30214=)
|
rs552314114
|
0.00009
|
|
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr)
|
rs369342933
|
0.00009
|
|
NM_001267550.2(TTN):c.92831G>A (p.Arg30944His)
|
rs755972883
|
0.00009
|
|
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=)
|
rs771635198
|
0.00009
|
|
NM_001267550.2(TTN):c.95304C>T (p.Val31768=)
|
rs367755163
|
0.00009
|
|
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)
|
rs201023432
|
0.00009
|
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
|
NM_001267550.2(TTN):c.97435C>A (p.Arg32479Ser)
|
rs200148139
|
0.00009
|
|
NM_001267550.2(TTN):c.98989+12A>C
|
rs72648275
|
0.00009
|
|
NM_001267550.2(TTN):c.99660C>T (p.Tyr33220=)
|
rs763539794
|
0.00009
|
|
NM_001368067.1(LDB3):c.345C>T (p.Asn115=)
|
rs562263201
|
0.00009
|
|
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser)
|
rs376489385
|
0.00009
|
|
NM_001378030.1(CCDC78):c.1214G>A (p.Arg405Gln)
|
rs771507948
|
0.00009
|
|
NM_001378030.1(CCDC78):c.47G>A (p.Arg16Gln)
|
rs117949611
|
0.00009
|
|
NM_001382567.1(STIM1):c.1635-15C>T
|
rs749764733
|
0.00009
|
|
NM_001382567.1(STIM1):c.1994G>A (p.Arg665Gln)
|
rs200632934
|
0.00009
|
|
NM_001382567.1(STIM1):c.408G>C (p.Glu136Asp)
|
rs200648767
|
0.00009
|
|
NM_001382567.1(STIM1):c.774G>T (p.Leu258=)
|
rs140997213
|
0.00009
|
|
NM_001458.5(FLNC):c.1168A>C (p.Asn390His)
|
rs922960289
|
0.00009
|
|
NM_001458.5(FLNC):c.1205C>T (p.Thr402Ile)
|
rs374757755
|
0.00009
|
|
NM_001458.5(FLNC):c.1605C>T (p.Cys535=)
|
rs199976790
|
0.00009
|
|
NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys)
|
rs141616435
|
0.00009
|
|
NM_001458.5(FLNC):c.1616C>T (p.Pro539Leu)
|
rs375570393
|
0.00009
|
|
NM_001458.5(FLNC):c.1645A>G (p.Ile549Val)
|
rs547997371
|
0.00009
|
|
NM_001458.5(FLNC):c.1814-13C>A
|
rs766268709
|
0.00009
|
|
NM_001458.5(FLNC):c.1980C>T (p.Pro660=)
|
rs762673516
|
0.00009
|
|
NM_001458.5(FLNC):c.2292C>T (p.Pro764=)
|
rs369916201
|
0.00009
|
|
NM_001458.5(FLNC):c.2513C>T (p.Ala838Val)
|
rs775085661
|
0.00009
|
|
NM_001458.5(FLNC):c.2790C>T (p.Val930=)
|
rs199966433
|
0.00009
|
|
NM_001458.5(FLNC):c.3382G>A (p.Glu1128Lys)
|
rs145724410
|
0.00009
|
|
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val)
|
rs202184162
|
0.00009
|
|
NM_001458.5(FLNC):c.3972T>C (p.His1324=)
|
rs201922688
|
0.00009
|
|
NM_001458.5(FLNC):c.4161C>T (p.Ile1387=)
|
rs200288149
|
0.00009
|
|
NM_001458.5(FLNC):c.480G>A (p.Thr160=)
|
rs369534561
|
0.00009
|
|
NM_001458.5(FLNC):c.4914G>A (p.Lys1638=)
|
rs371385321
|
0.00009
|
|
NM_001458.5(FLNC):c.4951+7G>A
|
rs370501464
|
0.00009
|
|
NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys)
|
rs200077114
|
0.00009
|
|
NM_001458.5(FLNC):c.5373C>T (p.Phe1791=)
|
rs370373860
|
0.00009
|
|
NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu)
|
rs201949844
|
0.00009
|
|
NM_001458.5(FLNC):c.5842+8G>A
|
rs781168906
|
0.00009
|
|
NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met)
|
rs772580545
|
0.00009
|
|
NM_001458.5(FLNC):c.643G>A (p.Val215Met)
|
rs754309921
|
0.00009
|
|
NM_001458.5(FLNC):c.7363T>C (p.Tyr2455His)
|
rs371262238
|
0.00009
|
|
NM_001458.5(FLNC):c.7450G>A (p.Gly2484Ser)
|
rs778922568
|
0.00009
|
|
NM_001458.5(FLNC):c.970-5A>G
|
rs199755800
|
0.00009
|
|
NM_001843.4(CNTN1):c.1662T>A (p.Ile554=)
|
rs138029751
|
0.00009
|
|
NM_001843.4(CNTN1):c.2523+12T>C
|
rs768112635
|
0.00009
|
|
NM_001843.4(CNTN1):c.694A>G (p.Ile232Val)
|
rs972742579
|
0.00009
|
|
NM_001848.3(COL6A1):c.1092C>T (p.Pro364=)
|
rs368088970
|
0.00009
|
|
NM_001848.3(COL6A1):c.1399-14C>G
|
rs374784450
|
0.00009
|
|
NM_001848.3(COL6A1):c.227+11C>T
|
rs371425947
|
0.00009
|
|
NM_001848.3(COL6A1):c.227+15C>T
|
rs199730779
|
0.00009
|
|
NM_001848.3(COL6A1):c.2352C>T (p.Pro784=)
|
rs377558756
|
0.00009
|
|
NM_001848.3(COL6A1):c.2568C>T (p.Ala856=)
|
rs771446601
|
0.00009
|
|
NM_001848.3(COL6A1):c.2615G>A (p.Arg872Gln)
|
rs377586358
|
0.00009
|
|
NM_001848.3(COL6A1):c.508G>C (p.Gly170Arg)
|
rs370889024
|
0.00009
|
|
NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu)
|
rs199867193
|
0.00009
|
|
NM_001848.3(COL6A1):c.609C>T (p.Ile203=)
|
rs369590506
|
0.00009
|
|
NM_001848.3(COL6A1):c.894G>A (p.Gln298=)
|
rs371989252
|
0.00009
|
|
NM_001849.4(COL6A2):c.116-6C>T
|
rs761805565
|
0.00009
|
|
NM_001849.4(COL6A2):c.120G>A (p.Lys40=)
|
rs200025682
|
0.00009
|
|
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His)
|
rs878854386
|
0.00009
|
|
NM_001849.4(COL6A2):c.138C>T (p.His46=)
|
rs201753549
|
0.00009
|
|
NM_001849.4(COL6A2):c.1458+9_1458+14del
|
rs762583937
|
0.00009
|
|
NM_001849.4(COL6A2):c.2254G>A (p.Val752Ile)
|
rs557865000
|
0.00009
|
|
NM_001849.4(COL6A2):c.22G>A (p.Val8Met)
|
rs192476178
|
0.00009
|
|
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met)
|
rs368160013
|
0.00009
|
|
NM_001849.4(COL6A2):c.2671G>A (p.Ala891Thr)
|
rs754110764
|
0.00009
|
|
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=)
|
rs144516266
|
0.00009
|
|
NM_001849.4(COL6A2):c.2784C>T (p.Ile928=)
|
rs199501232
|
0.00009
|
|
NM_001849.4(COL6A2):c.2938G>A (p.Val980Met)
|
rs140020002
|
0.00009
|
|
NM_001849.4(COL6A2):c.3024C>T (p.Pro1008=)
|
rs201635208
|
0.00009
|
|
NM_001849.4(COL6A2):c.544G>A (p.Glu182Lys)
|
rs374504636
|
0.00009
|
|
NM_001849.4(COL6A2):c.855+19C>T
|
rs373366455
|
0.00009
|
|
NM_001849.4(COL6A2):c.855+8T>C
|
rs370008311
|
0.00009
|
|
NM_001849.4(COL6A2):c.999+10G>T
|
rs376378709
|
0.00009
|
|
NM_001927.4(DES):c.1024-11C>A
|
rs566280820
|
0.00009
|
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
|
NM_001927.4(DES):c.540C>T (p.Arg180=)
|
rs757644636
|
0.00009
|
|
NM_001927.4(DES):c.642C>T (p.Asp214=)
|
rs370239228
|
0.00009
|
|
NM_001927.4(DES):c.699C>T (p.Asn233=)
|
rs758066814
|
0.00009
|
|
NM_001927.4(DES):c.736-19G>A
|
rs745667526
|
0.00009
|
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
|
NM_004168.4(SDHA):c.1591G>A (p.Val531Met)
|
rs371056571
|
0.00009
|
|
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)
|
rs376391115
|
0.00009
|
|
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val)
|
rs201068049
|
0.00009
|
|
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu)
|
rs730880054
|
0.00009
|
|
NM_004281.4(BAG3):c.605C>T (p.Pro202Leu)
|
rs556000090
|
0.00009
|
|
NM_004281.4(BAG3):c.616A>C (p.Ile206Leu)
|
rs199700646
|
0.00009
|
|
NM_004369.4(COL6A3):c.1557C>T (p.Asp519=)
|
rs145586177
|
0.00009
|
|
NM_004369.4(COL6A3):c.2144C>T (p.Ser715Leu)
|
rs780115806
|
0.00009
|
|
NM_004369.4(COL6A3):c.2444C>A (p.Pro815His)
|
rs199601240
|
0.00009
|
|
NM_004369.4(COL6A3):c.253G>A (p.Gly85Arg)
|
rs755587601
|
0.00009
|
|
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg)
|
rs370664069
|
0.00009
|
|
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=)
|
rs138426138
|
0.00009
|
|
NM_004369.4(COL6A3):c.3754C>T (p.Arg1252Cys)
|
rs563530370
|
0.00009
|
|
NM_004369.4(COL6A3):c.4032G>A (p.Ser1344=)
|
rs145048734
|
0.00009
|
|
NM_004369.4(COL6A3):c.414C>T (p.Ala138=)
|
rs148996231
|
0.00009
|
|
NM_004369.4(COL6A3):c.4663G>A (p.Asp1555Asn)
|
rs763162762
|
0.00009
|
|
NM_004369.4(COL6A3):c.466G>T (p.Asp156Tyr)
|
rs199632952
|
0.00009
|
|
NM_004369.4(COL6A3):c.5020G>A (p.Asp1674Asn)
|
rs778940391
|
0.00009
|
|
NM_004369.4(COL6A3):c.5501-17G>A
|
rs200723656
|
0.00009
|
|
NM_004369.4(COL6A3):c.552G>A (p.Ala184=)
|
rs542204130
|
0.00009
|
|
NM_004369.4(COL6A3):c.5657G>A (p.Arg1886His)
|
rs368379003
|
0.00009
|
|
NM_004369.4(COL6A3):c.5678C>T (p.Thr1893Met)
|
rs143389941
|
0.00009
|
|
NM_004369.4(COL6A3):c.5679G>A (p.Thr1893=)
|
rs149151423
|
0.00009
|
|
NM_004369.4(COL6A3):c.5743C>T (p.Arg1915Trp)
|
rs201938007
|
0.00009
|
|
NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val)
|
rs200239695
|
0.00009
|
|
NM_004369.4(COL6A3):c.6157-4T>G
|
rs536696110
|
0.00009
|
|
NM_004369.4(COL6A3):c.6211-13T>C
|
rs751001881
|
0.00009
|
|
NM_004369.4(COL6A3):c.7173C>T (p.Tyr2391=)
|
rs114248590
|
0.00009
|
|
NM_004369.4(COL6A3):c.7254C>T (p.Phe2418=)
|
rs768794876
|
0.00009
|
|
NM_004369.4(COL6A3):c.7375C>T (p.Arg2459Trp)
|
rs371066956
|
0.00009
|
|
NM_004369.4(COL6A3):c.7611G>T (p.Gly2537=)
|
rs145868338
|
0.00009
|
|
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=)
|
rs201479636
|
0.00009
|
|
NM_004369.4(COL6A3):c.8022C>T (p.Ser2674=)
|
rs149403952
|
0.00009
|
|
NM_004369.4(COL6A3):c.8457C>T (p.Phe2819=)
|
rs138683303
|
0.00009
|
|
NM_004369.4(COL6A3):c.862G>A (p.Asp288Asn)
|
rs115729513
|
0.00009
|
|
NM_004369.4(COL6A3):c.9059A>G (p.Tyr3020Cys)
|
rs371006546
|
0.00009
|
|
NM_004369.4(COL6A3):c.91+15C>T
|
rs117521066
|
0.00009
|
|
NM_004369.4(COL6A3):c.9394C>T (p.Pro3132Ser)
|
rs147533489
|
0.00009
|
|
NM_004370.6(COL12A1):c.1906A>G (p.Lys636Glu)
|
rs754916465
|
0.00009
|
|
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly)
|
rs200167099
|
0.00009
|
|
NM_004370.6(COL12A1):c.3099T>C (p.His1033=)
|
rs751065518
|
0.00009
|
|
NM_004370.6(COL12A1):c.3325C>G (p.Pro1109Ala)
|
rs528319887
|
0.00009
|
|
NM_004370.6(COL12A1):c.5069C>T (p.Ala1690Val)
|
rs763883662
|
0.00009
|
|
NM_004370.6(COL12A1):c.5369C>G (p.Ser1790Cys)
|
rs199684959
|
0.00009
|
|
NM_004370.6(COL12A1):c.5466C>T (p.Thr1822=)
|
rs373978519
|
0.00009
|
|
NM_004370.6(COL12A1):c.7302C>T (p.Asp2434=)
|
rs372068116
|
0.00009
|
|
NM_004370.6(COL12A1):c.8100+16T>A
|
rs201476445
|
0.00009
|
|
NM_004370.6(COL12A1):c.8416-14A>G
|
rs202033555
|
0.00009
|
|
NM_004370.6(COL12A1):c.8523+18G>C
|
rs202002189
|
0.00009
|
|
NM_004370.6(COL12A1):c.8554C>T (p.Pro2852Ser)
|
rs200375837
|
0.00009
|
|
NM_004370.6(COL12A1):c.8856C>T (p.Ser2952=)
|
rs375760724
|
0.00009
|
|
NM_006063.3(KLHL41):c.1711T>C (p.Tyr571His)
|
rs758684130
|
0.00009
|
|
NM_006790.3(MYOT):c.1345C>G (p.Pro449Ala)
|
rs766650528
|
0.00009
|
|
NM_007078.3(LDB3):c.1071T>A (p.Pro357=)
|
rs143823978
|
0.00009
|
|
NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser)
|
rs147072071
|
0.00009
|
|
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu)
|
rs145983824
|
0.00009
|
|
NM_007078.3(LDB3):c.493C>T (p.Arg165Trp)
|
rs45610637
|
0.00009
|
|
NM_017534.6(MYH2):c.1746G>A (p.Leu582=)
|
rs778765592
|
0.00009
|
|
NM_017534.6(MYH2):c.2546C>T (p.Ala849Val)
|
rs374630865
|
0.00009
|
|
NM_017534.6(MYH2):c.609T>G (p.Gly203=)
|
rs547575703
|
0.00009
|
|
NM_017534.6(MYH2):c.705C>T (p.Asn235=)
|
rs201018335
|
0.00009
|
|
NM_017534.6(MYH2):c.772A>G (p.Thr258Ala)
|
rs776266174
|
0.00009
|
|
NM_020451.3(SELENON):c.1517C>T (p.Ser506Leu)
|
rs766798515
|
0.00009
|
|
NM_020451.3(SELENON):c.1563C>T (p.Phe521=)
|
rs373154763
|
0.00009
|
|
NM_020451.3(SELENON):c.301+18C>T
|
rs373189692
|
0.00009
|
|
NM_032790.3(ORAI1):c.309-4G>A
|
rs371157536
|
0.00009
|
|
NM_032790.4(ORAI1):c.151A>C (p.Thr51Pro)
|
rs782810452
|
0.00009
|
|
NM_139343.3(BIN1):c.1226C>T (p.Thr409Met)
|
rs754678339
|
0.00009
|
|
NM_139343.3(BIN1):c.1264-5A>C
|
rs541219767
|
0.00009
|
|
NM_139343.3(BIN1):c.636C>T (p.Ala212=)
|
rs201238412
|
0.00009
|
|
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser)
|
rs372072916
|
0.00009
|
|
NM_139343.3(BIN1):c.85-6C>T
|
rs200855894
|
0.00009
|
|
NM_145064.3(STAC3):c.806C>T (p.Pro269Leu)
|
rs367590066
|
0.00009
|
|
NM_152393.4(KLHL40):c.1204C>T (p.Arg402Cys)
|
rs149076152
|
0.00009
|
|
NM_152393.4(KLHL40):c.1590C>T (p.Tyr530=)
|
rs372060961
|
0.00009
|
|
NM_198271.5(LMOD3):c.1367A>T (p.Asn456Ile)
|
rs751407704
|
0.00009
|
|
NM_198271.5(LMOD3):c.42C>T (p.Leu14=)
|
rs555650704
|
0.00009
|
|
NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=)
|
rs144757200
|
0.00009
|
|
NM_198859.4(PRICKLE2):c.1737T>C (p.Ser579=)
|
rs1477115652
|
0.00009
|
|
NM_198859.4(PRICKLE2):c.267T>C (p.Tyr89=)
|
rs199642985
|
0.00009
|
|
NM_198859.4(PRICKLE2):c.906C>T (p.Gly302=)
|
rs369079932
|
0.00009
|
|
NM_213720.3(CHCHD10):c.42-9C>A
|
rs1392906115
|
0.00009
|
|
NM_000036.2(AMPD1):c.24T>C (p.Ser8=)
|
rs377496676
|
0.00008
|
|
NM_000036.3(AMPD1):c.1400G>A (p.Arg467His)
|
rs140957303
|
0.00008
|
|
NM_000036.3(AMPD1):c.200C>T (p.Ser67Phe)
|
rs145315039
|
0.00008
|
|
NM_000036.3(AMPD1):c.958A>G (p.Lys320Glu)
|
rs376193713
|
0.00008
|
|
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=)
|
rs140751478
|
0.00008
|
|
NM_000182.5(HADHA):c.1629T>C (p.Pro543=)
|
rs1056729658
|
0.00008
|
|
NM_000183.3(HADHB):c.272C>T (p.Thr91Ile)
|
rs145712438
|
0.00008
|
|
NM_000183.3(HADHB):c.514C>T (p.Pro172Ser)
|
rs367891116
|
0.00008
|
|
NM_001101362.3(KBTBD13):c.436C>A (p.Arg146Ser)
|
rs922207893
|
0.00008
|
|
NM_001101362.3(KBTBD13):c.670G>A (p.Val224Met)
|
rs377035059
|
0.00008
|
|
NM_001164507.2(NEB):c.21396C>T (p.Thr7132=)
|
rs759637718
|
0.00008
|
|
NM_001164508.2(NEB):c.10196T>C (p.Ile3399Thr)
|
rs377734027
|
0.00008
|
|
NM_001164508.2(NEB):c.11277T>C (p.Asp3759=)
|
rs775887711
|
0.00008
|
|
NM_001164508.2(NEB):c.11911-20G>A
|
rs749556721
|
0.00008
|
|
NM_001164508.2(NEB):c.12511G>A (p.Ala4171Thr)
|
rs1420479305
|
0.00008
|
|
NM_001164508.2(NEB):c.1285G>T (p.Asp429Tyr)
|
rs577939684
|
0.00008
|
|
NM_001164508.2(NEB):c.13059+14C>T
|
rs1456707041
|
0.00008
|
|
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr)
|
rs202111641
|
0.00008
|
|
NM_001164508.2(NEB):c.17272A>G (p.Ile5758Val)
|
rs541672313
|
0.00008
|
|
NM_001164508.2(NEB):c.17737-19T>C
|
rs367755687
|
0.00008
|
|
NM_001164508.2(NEB):c.19788T>C (p.Asp6596=)
|
rs974199168
|
0.00008
|
|
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser)
|
rs751724804
|
0.00008
|
|
NM_001164508.2(NEB):c.20565A>G (p.Thr6855=)
|
rs377243130
|
0.00008
|
|
NM_001164508.2(NEB):c.22341G>C (p.Lys7447Asn)
|
rs544200886
|
0.00008
|
|
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp)
|
rs200559481
|
0.00008
|
|
NM_001164508.2(NEB):c.24186C>A (p.His8062Gln)
|
rs557951728
|
0.00008
|
|
NM_001164508.2(NEB):c.3042+11A>G
|
rs758960950
|
0.00008
|
|
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met)
|
rs181244403
|
0.00008
|
|
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)
|
rs182207224
|
0.00008
|
|
NM_001164508.2(NEB):c.3918G>A (p.Lys1306=)
|
rs368682145
|
0.00008
|
|
NM_001164508.2(NEB):c.4431T>C (p.Asp1477=)
|
rs140558263
|
0.00008
|
|
NM_001164508.2(NEB):c.5724C>T (p.Ser1908=)
|
rs370965998
|
0.00008
|
|
NM_001164508.2(NEB):c.8039G>A (p.Arg2680Gln)
|
rs201746137
|
0.00008
|
|
NM_001164508.2(NEB):c.8356A>G (p.Arg2786Gly)
|
rs201747395
|
0.00008
|
|
NM_001164508.2(NEB):c.9373G>A (p.Asp3125Asn)
|
rs375811851
|
0.00008
|
|
NM_001164508.2(NEB):c.9619-9C>T
|
rs778009768
|
0.00008
|
|
NM_001256545.2(MEGF10):c.1224T>C (p.Ala408=)
|
rs139574266
|
0.00008
|
|
NM_001256545.2(MEGF10):c.1693+17G>A
|
rs375660147
|
0.00008
|
|
NM_001256545.2(MEGF10):c.2348G>A (p.Arg783Gln)
|
rs755400237
|
0.00008
|
|
NM_001256545.2(MEGF10):c.2601A>G (p.Leu867=)
|
rs749648675
|
0.00008
|
|
NM_001267550.2(TTN):c.103524C>T (p.Val34508=)
|
rs587780985
|
0.00008
|
|
NM_001267550.2(TTN):c.10458G>A (p.Ala3486=)
|
rs759465333
|
0.00008
|
|
NM_001267550.2(TTN):c.104640G>A (p.Glu34880=)
|
rs373134178
|
0.00008
|
|
NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly)
|
rs370476812
|
0.00008
|
|
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)
|
rs373655492
|
0.00008
|
|
NM_001267550.2(TTN):c.106511G>C (p.Ser35504Thr)
|
rs575070622
|
0.00008
|
|
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)
|
rs772957495
|
0.00008
|
|
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr)
|
rs397517829
|
0.00008
|
|
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)
|
rs191968963
|
0.00008
|
|
NM_001267550.2(TTN):c.1365G>A (p.Thr455=)
|
rs145211131
|
0.00008
|
|
NM_001267550.2(TTN):c.16156A>G (p.Met5386Val)
|
rs567457007
|
0.00008
|
|
NM_001267550.2(TTN):c.1743G>A (p.Pro581=)
|
rs138560523
|
0.00008
|
|
NM_001267550.2(TTN):c.20465A>G (p.Asn6822Ser)
|
rs371518764
|
0.00008
|
|
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=)
|
rs372264428
|
0.00008
|
|
NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr)
|
rs759713604
|
0.00008
|
|
NM_001267550.2(TTN):c.25637A>G (p.Gln8546Arg)
|
rs548471822
|
0.00008
|
|
NM_001267550.2(TTN):c.26221A>G (p.Lys8741Glu)
|
rs538959125
|
0.00008
|
|
NM_001267550.2(TTN):c.26817C>T (p.Ser8939=)
|
rs370757633
|
0.00008
|
|
NM_001267550.2(TTN):c.2760C>T (p.His920=)
|
rs138788406
|
0.00008
|
|
NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys)
|
rs369195237
|
0.00008
|
|
NM_001267550.2(TTN):c.2776-14T>C
|
rs201611946
|
0.00008
|
|
NM_001267550.2(TTN):c.30433+10T>C
|
rs763058822
|
0.00008
|
|
NM_001267550.2(TTN):c.30754+15C>A
|
rs778126116
|
0.00008
|
|
NM_001267550.2(TTN):c.31071C>T (p.His10357=)
|
rs368973334
|
0.00008
|
|
NM_001267550.2(TTN):c.33665-13A>G
|
rs535050836
|
0.00008
|
|
NM_001267550.2(TTN):c.33742+8C>T
|
rs375939001
|
0.00008
|
|
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr)
|
rs532102837
|
0.00008
|
|
NM_001267550.2(TTN):c.36616+13T>A
|
rs750087490
|
0.00008
|
|
NM_001267550.2(TTN):c.36616+16T>G
|
rs764857785
|
0.00008
|
|
NM_001267550.2(TTN):c.3666A>G (p.Gln1222=)
|
rs757867206
|
0.00008
|
|
NM_001267550.2(TTN):c.3813T>C (p.Leu1271=)
|
rs773274762
|
0.00008
|
|
NM_001267550.2(TTN):c.39463+9C>T
|
rs373482203
|
0.00008
|
|
NM_001267550.2(TTN):c.39709+9G>C
|
rs765647346
|
0.00008
|
|
NM_001267550.2(TTN):c.42839A>G (p.Asp14280Gly)
|
rs181902304
|
0.00008
|
|
NM_001267550.2(TTN):c.4602C>T (p.Asn1534=)
|
rs546385657
|
0.00008
|
|
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=)
|
rs202141158
|
0.00008
|
|
NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys)
|
rs377563403
|
0.00008
|
|
NM_001267550.2(TTN):c.49000G>A (p.Val16334Met)
|
rs541384076
|
0.00008
|
|
NM_001267550.2(TTN):c.50551+9T>C
|
rs370798229
|
0.00008
|
|
NM_001267550.2(TTN):c.51247G>T (p.Val17083Phe)
|
rs746817480
|
0.00008
|
|
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=)
|
rs200410212
|
0.00008
|
|
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg)
|
rs772677752
|
0.00008
|
|
NM_001267550.2(TTN):c.57112-4C>T
|
rs117072049
|
0.00008
|
|
NM_001267550.2(TTN):c.57559G>A (p.Val19187Ile)
|
rs764203267
|
0.00008
|
|
NM_001267550.2(TTN):c.58329T>C (p.Ala19443=)
|
rs766693145
|
0.00008
|
|
NM_001267550.2(TTN):c.60220+15A>G
|
rs769891674
|
0.00008
|
|
NM_001267550.2(TTN):c.60976G>A (p.Ala20326Thr)
|
rs370995867
|
0.00008
|
|
NM_001267550.2(TTN):c.62723G>A (p.Arg20908Gln)
|
rs377203669
|
0.00008
|
|
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr)
|
rs56378177
|
0.00008
|
|
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His)
|
rs727504520
|
0.00008
|
|
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)
|
rs374615369
|
0.00008
|
|
NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln)
|
rs55853138
|
0.00008
|
|
NM_001267550.2(TTN):c.73319T>C (p.Ile24440Thr)
|
rs370931683
|
0.00008
|
|
NM_001267550.2(TTN):c.74952T>C (p.Ser24984=)
|
rs757428242
|
0.00008
|
|
NM_001267550.2(TTN):c.76610G>A (p.Arg25537His)
|
rs561977468
|
0.00008
|
|
NM_001267550.2(TTN):c.77913T>C (p.Tyr25971=)
|
rs72648203
|
0.00008
|
|
NM_001267550.2(TTN):c.80859G>A (p.Thr26953=)
|
rs771257647
|
0.00008
|
|
NM_001267550.2(TTN):c.8184C>T (p.Val2728=)
|
rs753356474
|
0.00008
|
|
NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys)
|
rs192360370
|
0.00008
|
|
NM_001267550.2(TTN):c.85334G>A (p.Cys28445Tyr)
|
rs773226749
|
0.00008
|
|
NM_001267550.2(TTN):c.85472G>A (p.Arg28491His)
|
rs373129706
|
0.00008
|
|
NM_001267550.2(TTN):c.86163T>C (p.Tyr28721=)
|
rs760622778
|
0.00008
|
|
NM_001267550.2(TTN):c.88183T>C (p.Phe29395Leu)
|
rs55940667
|
0.00008
|
|
NM_001267550.2(TTN):c.88246G>T (p.Val29416Phe)
|
rs755325663
|
0.00008
|
|
NM_001267550.2(TTN):c.88767A>G (p.Glu29589=)
|
rs150540191
|
0.00008
|
|
NM_001267550.2(TTN):c.92167C>T (p.Pro30723Ser)
|
rs758537709
|
0.00008
|
|
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)
|
rs200476500
|
0.00008
|
|
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu)
|
rs762265902
|
0.00008
|
|
NM_001267550.2(TTN):c.96051A>G (p.Ala32017=)
|
rs367805587
|
0.00008
|
|
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp)
|
rs201463708
|
0.00008
|
|
NM_001267550.2(TTN):c.99582G>A (p.Pro33194=)
|
rs777730098
|
0.00008
|
|
NM_001378030.1(CCDC78):c.104G>A (p.Gly35Asp)
|
rs929692414
|
0.00008
|
|
NM_001378030.1(CCDC78):c.1241C>A (p.Ala414Asp)
|
rs369081589
|
0.00008
|
|
NM_001378030.1(CCDC78):c.642G>A (p.Val214=)
|
rs142353908
|
0.00008
|
|
NM_001382567.1(STIM1):c.182A>G (p.Glu61Gly)
|
rs202160755
|
0.00008
|
|
NM_001382567.1(STIM1):c.1848G>A (p.Ala616=)
|
rs201902860
|
0.00008
|
|
NM_001382567.1(STIM1):c.1987G>A (p.Asp663Asn)
|
rs369549218
|
0.00008
|
|
NM_001382567.1(STIM1):c.603G>A (p.Gly201=)
|
rs142843376
|
0.00008
|
|
NM_001382567.1(STIM1):c.975G>C (p.Arg325=)
|
rs200963440
|
0.00008
|
|
NM_001458.5(FLNC):c.1513G>A (p.Gly505Ser)
|
rs200935123
|
0.00008
|
|
NM_001458.5(FLNC):c.2040C>T (p.Thr680=)
|
rs368121231
|
0.00008
|
|
NM_001458.5(FLNC):c.2602A>G (p.Ser868Gly)
|
rs201002262
|
0.00008
|
|
NM_001458.5(FLNC):c.3740C>T (p.Ala1247Val)
|
rs775496136
|
0.00008
|
|
NM_001458.5(FLNC):c.3791-18G>A
|
rs201845310
|
0.00008
|
|
NM_001458.5(FLNC):c.4459G>A (p.Val1487Met)
|
rs750186463
|
0.00008
|
|
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=)
|
rs377258966
|
0.00008
|
|
NM_001458.5(FLNC):c.4651G>A (p.Ala1551Thr)
|
rs565918031
|
0.00008
|
|
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu)
|
rs745650222
|
0.00008
|
|
NM_001458.5(FLNC):c.5263G>A (p.Ala1755Thr)
|
rs368768007
|
0.00008
|
|
NM_001458.5(FLNC):c.678C>T (p.Asp226=)
|
rs769791248
|
0.00008
|
|
NM_001458.5(FLNC):c.6817G>A (p.Ala2273Thr)
|
rs372251350
|
0.00008
|
|
NM_001458.5(FLNC):c.6988G>A (p.Gly2330Ser)
|
rs527248119
|
0.00008
|
|
NM_001458.5(FLNC):c.7434C>T (p.Ile2478=)
|
rs773767211
|
0.00008
|
|
NM_001458.5(FLNC):c.7562-17C>T
|
rs571573294
|
0.00008
|
|
NM_001843.4(CNTN1):c.1280C>G (p.Ala427Gly)
|
rs141706688
|
0.00008
|
|
NM_001843.4(CNTN1):c.1380-14T>G
|
rs374938536
|
0.00008
|
|
NM_001843.4(CNTN1):c.1749C>T (p.Cys583=)
|
rs768838928
|
0.00008
|
|
NM_001843.4(CNTN1):c.2687T>C (p.Ile896Thr)
|
rs771657279
|
0.00008
|
|
NM_001848.3(COL6A1):c.1160G>A (p.Ser387Asn)
|
rs756884829
|
0.00008
|
|
NM_001848.3(COL6A1):c.1777-3C>T
|
rs111263341
|
0.00008
|
|
NM_001848.3(COL6A1):c.2464+9C>T
|
rs368651226
|
0.00008
|
|
NM_001848.3(COL6A1):c.474C>T (p.Asp158=)
|
rs773280332
|
0.00008
|
|
NM_001848.3(COL6A1):c.589-13A>G
|
rs201695574
|
0.00008
|
|
NM_001848.3(COL6A1):c.69G>A (p.Pro23=)
|
rs149741299
|
0.00008
|
|
NM_001848.3(COL6A1):c.822G>A (p.Pro274=)
|
rs886044503
|
0.00008
|
|
NM_001849.4(COL6A2):c.1436C>T (p.Ala479Val)
|
rs373846012
|
0.00008
|
|
NM_001849.4(COL6A2):c.1459-13C>T
|
rs370542209
|
0.00008
|
|
NM_001849.4(COL6A2):c.1671+12C>T
|
rs369570961
|
0.00008
|
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
|
NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala)
|
rs753298014
|
0.00008
|
|
NM_001849.4(COL6A2):c.2301C>T (p.His767=)
|
rs138371054
|
0.00008
|
|
NM_001849.4(COL6A2):c.2370C>T (p.Ser790=)
|
rs530866573
|
0.00008
|
|
NM_001849.4(COL6A2):c.2678C>T (p.Pro893Leu)
|
rs779242861
|
0.00008
|
|
NM_001849.4(COL6A2):c.672C>T (p.Thr224=)
|
rs759388890
|
0.00008
|
|
NM_001849.4(COL6A2):c.735+9C>T
|
rs377121540
|
0.00008
|
|
NM_001849.4(COL6A2):c.945C>T (p.Asp315=)
|
rs549800720
|
0.00008
|
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00008
|
|
NM_004168.4(SDHA):c.1089C>T (p.His363=)
|
rs368488126
|
0.00008
|
|
NM_004168.4(SDHA):c.1527G>A (p.Ser509=)
|
rs746453879
|
0.00008
|
|
NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro)
|
rs375194444
|
0.00008
|
|
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)
|
rs377470390
|
0.00008
|
|
NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu)
|
rs149367009
|
0.00008
|
|
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)
|
rs375576259
|
0.00008
|
|
NM_004168.4(SDHA):c.552G>A (p.Gly184=)
|
rs147444427
|
0.00008
|
|
NM_004281.4(BAG3):c.1423G>A (p.Asp475Asn)
|
rs138832242
|
0.00008
|
|
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)
|
rs387906874
|
0.00008
|
|
NM_004281.4(BAG3):c.432C>A (p.Thr144=)
|
rs144928892
|
0.00008
|
|
NM_004369.4(COL6A3):c.1063G>A (p.Ala355Thr)
|
rs375022162
|
0.00008
|
|
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu)
|
rs144746928
|
0.00008
|
|
NM_004369.4(COL6A3):c.2320T>C (p.Phe774Leu)
|
rs572969883
|
0.00008
|
|
NM_004369.4(COL6A3):c.2600A>T (p.Asn867Ile)
|
rs751459281
|
0.00008
|
|
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile)
|
rs137910388
|
0.00008
|
|
NM_004369.4(COL6A3):c.4116C>T (p.Asn1372=)
|
rs369620378
|
0.00008
|
|
NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val)
|
rs372247515
|
0.00008
|
|
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr)
|
rs200433282
|
0.00008
|
|
NM_004369.4(COL6A3):c.6045T>C (p.Tyr2015=)
|
rs148877230
|
0.00008
|
|
NM_004369.4(COL6A3):c.6225G>A (p.Pro2075=)
|
rs368711215
|
0.00008
|
|
NM_004369.4(COL6A3):c.6627+18C>A
|
rs778048349
|
0.00008
|
|
NM_004369.4(COL6A3):c.7266A>C (p.Arg2422=)
|
rs778691629
|
0.00008
|
|
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys)
|
rs111395856
|
0.00008
|
|
NM_004369.4(COL6A3):c.8289A>C (p.Lys2763Asn)
|
rs747588645
|
0.00008
|
|
NM_004369.4(COL6A3):c.8436C>T (p.Phe2812=)
|
rs571287679
|
0.00008
|
|
NM_004369.4(COL6A3):c.9358A>C (p.Thr3120Pro)
|
rs141050617
|
0.00008
|
|
NM_004370.6(COL12A1):c.1163C>T (p.Thr388Met)
|
rs201657256
|
0.00008
|
|
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met)
|
rs200698641
|
0.00008
|
|
NM_004370.6(COL12A1):c.3069C>T (p.Val1023=)
|
rs746395625
|
0.00008
|
|
NM_004370.6(COL12A1):c.3417C>T (p.Asp1139=)
|
rs755878864
|
0.00008
|
|
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met)
|
rs200108494
|
0.00008
|
|
NM_004370.6(COL12A1):c.6224G>A (p.Gly2075Asp)
|
rs754228661
|
0.00008
|
|
NM_007078.3(LDB3):c.1075G>A (p.Asp359Asn)
|
rs557956141
|
0.00008
|
|
NM_007078.3(LDB3):c.1411C>T (p.Pro471Ser)
|
rs750941511
|
0.00008
|
|
NM_007078.3(LDB3):c.1675C>T (p.Arg559Trp)
|
rs142947567
|
0.00008
|
|
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln)
|
rs763908636
|
0.00008
|
|
NM_007078.3(LDB3):c.581A>T (p.Gln194Leu)
|
rs769852198
|
0.00008
|
|
NM_007078.3(LDB3):c.715G>A (p.Val239Ile)
|
rs201417512
|
0.00008
|
|
NM_007078.3(LDB3):c.887G>A (p.Arg296Gln)
|
rs201689564
|
0.00008
|
|
NM_017534.6(MYH2):c.1086T>C (p.Tyr362=)
|
rs145946759
|
0.00008
|
|
NM_017534.6(MYH2):c.1249G>A (p.Gly417Ser)
|
rs148270782
|
0.00008
|
|
NM_017534.6(MYH2):c.205-3C>T
|
rs371123671
|
0.00008
|
|
NM_017534.6(MYH2):c.3097C>A (p.Leu1033Ile)
|
rs201592726
|
0.00008
|
|
NM_017534.6(MYH2):c.3572A>G (p.His1191Arg)
|
rs747186072
|
0.00008
|
|
NM_017534.6(MYH2):c.4149G>A (p.Thr1383=)
|
rs376738763
|
0.00008
|
|
NM_017534.6(MYH2):c.5263C>T (p.Arg1755Cys)
|
rs202006788
|
0.00008
|
|
NM_017534.6(MYH2):c.5743C>T (p.Arg1915Trp)
|
rs745584391
|
0.00008
|
|
NM_020451.3(SELENON):c.402G>A (p.Leu134=)
|
rs759256016
|
0.00008
|
|
NM_020451.3(SELENON):c.457G>A (p.Glu153Lys)
|
rs374512346
|
0.00008
|
|
NM_032790.4(ORAI1):c.693G>A (p.Pro231=)
|
rs200214435
|
0.00008
|
|
NM_139343.3(BIN1):c.285C>T (p.Pro95=)
|
rs377467117
|
0.00008
|
|
NM_139343.3(BIN1):c.735C>T (p.Ile245=)
|
rs184358580
|
0.00008
|
|
NM_145064.3(STAC3):c.375C>T (p.Thr125=)
|
rs571406474
|
0.00008
|
|
NM_145064.3(STAC3):c.997-9A>T
|
rs746464389
|
0.00008
|
|
NM_152393.4(KLHL40):c.1414A>G (p.Ser472Gly)
|
rs752099249
|
0.00008
|
|
NM_198271.5(LMOD3):c.1416A>G (p.Pro472=)
|
rs563513367
|
0.00008
|
|
NM_198271.5(LMOD3):c.1585T>C (p.Leu529=)
|
rs368819551
|
0.00008
|
|
NM_198859.4(PRICKLE2):c.1104C>T (p.Asp368=)
|
rs749983619
|
0.00008
|
|
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn)
|
rs376789465
|
0.00007
|
|
NM_000182.5(HADHA):c.1515G>A (p.Lys505=)
|
rs543680661
|
0.00007
|
|
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)
|
rs370170143
|
0.00007
|
|
NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu)
|
rs368455378
|
0.00007
|
|
NM_000182.5(HADHA):c.1935G>A (p.Arg645=)
|
rs762246988
|
0.00007
|
|
NM_000182.5(HADHA):c.2000+9G>A
|
rs200802583
|
0.00007
|
|
NM_000182.5(HADHA):c.513C>A (p.Thr171=)
|
rs139043179
|
0.00007
|
|
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln)
|
rs764507324
|
0.00007
|
|
NM_000252.3(MTM1):c.422C>T (p.Ala141Val)
|
rs140642341
|
0.00007
|
|
NM_001100.4(ACTA1):c.1065G>A (p.Gln355=)
|
rs375945657
|
0.00007
|
|
NM_001101362.3(KBTBD13):c.1038G>T (p.Met346Ile)
|
rs770377239
|
0.00007
|
|
NM_001101362.3(KBTBD13):c.831C>G (p.Arg277=)
|
rs781249514
|
0.00007
|
|
NM_001101362.3(KBTBD13):c.833A>T (p.Tyr278Phe)
|
rs748032183
|
0.00007
|
|
NM_001164508.2(NEB):c.10005G>A (p.Met3335Ile)
|
rs375830667
|
0.00007
|
|
NM_001164508.2(NEB):c.10144-15G>A
|
rs375731546
|
0.00007
|
|
NM_001164508.2(NEB):c.105G>A (p.Thr35=)
|
rs368075131
|
0.00007
|
|
NM_001164508.2(NEB):c.10960G>A (p.Gly3654Arg)
|
rs754341838
|
0.00007
|
|
NM_001164508.2(NEB):c.11034G>A (p.Pro3678=)
|
rs528974814
|
0.00007
|
|
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val)
|
rs199551865
|
0.00007
|
|
NM_001164508.2(NEB):c.1362T>C (p.Ser454=)
|
rs747277167
|
0.00007
|
|
NM_001164508.2(NEB):c.16779A>G (p.Arg5593=)
|
rs369688367
|
0.00007
|
|
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys)
|
rs372049328
|
0.00007
|
|
NM_001164508.2(NEB):c.16875C>T (p.Val5625=)
|
rs757882235
|
0.00007
|
|
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys)
|
rs547231033
|
0.00007
|
|
NM_001164508.2(NEB):c.19732-8C>T
|
rs137934821
|
0.00007
|
|
NM_001164508.2(NEB):c.20019C>T (p.His6673=)
|
rs374881368
|
0.00007
|
|
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys)
|
rs772854423
|
0.00007
|
|
NM_001164508.2(NEB):c.20454G>C (p.Leu6818=)
|
rs374662309
|
0.00007
|
|
NM_001164508.2(NEB):c.21321T>C (p.Tyr7107=)
|
rs372326115
|
0.00007
|
|
NM_001164508.2(NEB):c.22004C>T (p.Thr7335Met)
|
rs767584361
|
0.00007
|
|
NM_001164508.2(NEB):c.22050+14G>A
|
rs542106802
|
0.00007
|
|
NM_001164508.2(NEB):c.22273-10C>T
|
rs781520817
|
0.00007
|
|
NM_001164508.2(NEB):c.23127+4G>A
|
rs764457781
|
0.00007
|
|
NM_001164508.2(NEB):c.23378T>C (p.Met7793Thr)
|
rs536677256
|
0.00007
|
|
NM_001164508.2(NEB):c.2475C>T (p.Asp825=)
|
rs180881237
|
0.00007
|
|
NM_001164508.2(NEB):c.368G>A (p.Arg123His)
|
rs546250852
|
0.00007
|
|
NM_001164508.2(NEB):c.3936C>T (p.Gly1312=)
|
rs753005851
|
0.00007
|
|
NM_001164508.2(NEB):c.4978C>A (p.Pro1660Thr)
|
rs776231831
|
0.00007
|
|
NM_001164508.2(NEB):c.5160C>T (p.Pro1720=)
|
rs377168964
|
0.00007
|
|
NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu)
|
rs200468391
|
0.00007
|
|
NM_001164508.2(NEB):c.5616G>A (p.Pro1872=)
|
rs368371414
|
0.00007
|
|
NM_001164508.2(NEB):c.6097G>A (p.Glu2033Lys)
|
rs956309067
|
0.00007
|
|
NM_001164508.2(NEB):c.6184-19A>G
|
rs762124925
|
0.00007
|
|
NM_001164508.2(NEB):c.6482G>A (p.Arg2161His)
|
rs373778424
|
0.00007
|
|
NM_001164508.2(NEB):c.9146T>C (p.Ile3049Thr)
|
rs776759120
|
0.00007
|
|
NM_001256545.2(MEGF10):c.1011C>T (p.Gly337=)
|
rs148970564
|
0.00007
|
|
NM_001256545.2(MEGF10):c.1166C>T (p.Pro389Leu)
|
rs141706024
|
0.00007
|
|
NM_001256545.2(MEGF10):c.1514G>A (p.Gly505Glu)
|
rs199699950
|
0.00007
|
|
NM_001256545.2(MEGF10):c.210G>A (p.Thr70=)
|
rs369231278
|
0.00007
|
|
NM_001256545.2(MEGF10):c.534C>T (p.Cys178=)
|
rs577473643
|
0.00007
|
|
NM_001256545.2(MEGF10):c.538G>A (p.Asp180Asn)
|
rs142679354
|
0.00007
|
|
NM_001256545.2(MEGF10):c.631C>T (p.Arg211Cys)
|
rs200236385
|
0.00007
|
|
NM_001256850.1(TTN):c.31360+9T>C
|
rs573677447
|
0.00007
|
|
NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys)
|
rs371908649
|
0.00007
|
|
NM_001267550.2(TTN):c.102183C>T (p.Arg34061=)
|
rs727504536
|
0.00007
|
|
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=)
|
rs541125667
|
0.00007
|
|
NM_001267550.2(TTN):c.103828C>T (p.Arg34610Cys)
|
rs376443365
|
0.00007
|
|
NM_001267550.2(TTN):c.104205G>A (p.Thr34735=)
|
rs752424146
|
0.00007
|
|
NM_001267550.2(TTN):c.104298T>C (p.Ala34766=)
|
rs751788327
|
0.00007
|
|
NM_001267550.2(TTN):c.104901T>G (p.Ser34967=)
|
rs367610925
|
0.00007
|
|
NM_001267550.2(TTN):c.104943A>G (p.Glu34981=)
|
rs372312805
|
0.00007
|
|
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met)
|
rs397517795
|
0.00007
|
|
NM_001267550.2(TTN):c.1296C>T (p.Ala432=)
|
rs549880126
|
0.00007
|
|
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)
|
rs727503652
|
0.00007
|
|
NM_001267550.2(TTN):c.21789G>C (p.Trp7263Cys)
|
rs377544260
|
0.00007
|
|
NM_001267550.2(TTN):c.25296C>T (p.Cys8432=)
|
rs375720439
|
0.00007
|
|
NM_001267550.2(TTN):c.25717A>C (p.Ile8573Leu)
|
rs142609645
|
0.00007
|
|
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu)
|
rs369947439
|
0.00007
|
|
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg)
|
rs201229221
|
0.00007
|
|
NM_001267550.2(TTN):c.2743C>T (p.Arg915Cys)
|
rs539652641
|
0.00007
|
|
NM_001267550.2(TTN):c.28098C>G (p.Ser9366Arg)
|
rs374930292
|
0.00007
|
|
NM_001267550.2(TTN):c.28359C>T (p.His9453=)
|
rs372238447
|
0.00007
|
|
NM_001267550.2(TTN):c.31679-12G>A
|
rs372575606
|
0.00007
|
|
NM_001267550.2(TTN):c.32070C>T (p.Val10690=)
|
rs757316831
|
0.00007
|
|
NM_001267550.2(TTN):c.32187G>A (p.Thr10729=)
|
rs759267144
|
0.00007
|
|
NM_001267550.2(TTN):c.33340+5A>C
|
rs373367032
|
0.00007
|
|
NM_001267550.2(TTN):c.3368C>G (p.Thr1123Ser)
|
rs773799748
|
0.00007
|
|
NM_001267550.2(TTN):c.34708+20T>C
|
rs373807971
|
0.00007
|
|
NM_001267550.2(TTN):c.38876-20T>C
|
rs767261103
|
0.00007
|
|
NM_001267550.2(TTN):c.3909T>G (p.Leu1303=)
|
rs758404767
|
0.00007
|
|
NM_001267550.2(TTN):c.39882A>G (p.Ala13294=)
|
rs933885965
|
0.00007
|
|
NM_001267550.2(TTN):c.40141+6C>T
|
rs750448649
|
0.00007
|
|
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His)
|
rs571348685
|
0.00007
|
|
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu)
|
rs145308734
|
0.00007
|
|
NM_001267550.2(TTN):c.43167C>T (p.Ser14389=)
|
rs375780439
|
0.00007
|
|
NM_001267550.2(TTN):c.44282-7C>T
|
rs764547102
|
0.00007
|
|
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr)
|
rs374419129
|
0.00007
|
|
NM_001267550.2(TTN):c.46273A>C (p.Arg15425=)
|
rs753808735
|
0.00007
|
|
NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln)
|
rs376278449
|
0.00007
|
|
NM_001267550.2(TTN):c.47876-18A>C
|
rs776809349
|
0.00007
|
|
NM_001267550.2(TTN):c.50121C>T (p.Asp16707=)
|
rs753788191
|
0.00007
|
|
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)
|
rs374228930
|
0.00007
|
|
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=)
|
rs373316165
|
0.00007
|
|
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His)
|
rs727503604
|
0.00007
|
|
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=)
|
rs371155050
|
0.00007
|
|
NM_001267550.2(TTN):c.54194G>A (p.Arg18065His)
|
rs375895183
|
0.00007
|
|
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=)
|
rs183047238
|
0.00007
|
|
NM_001267550.2(TTN):c.561G>A (p.Ser187=)
|
rs141444282
|
0.00007
|
|
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro)
|
rs375000725
|
0.00007
|
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00007
|
|
NM_001267550.2(TTN):c.58122C>G (p.Thr19374=)
|
rs189818369
|
0.00007
|
|
NM_001267550.2(TTN):c.59331A>G (p.Val19777=)
|
rs879087831
|
0.00007
|
|
NM_001267550.2(TTN):c.62290G>C (p.Glu20764Gln)
|
rs397517651
|
0.00007
|
|
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His)
|
rs727503585
|
0.00007
|
|
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His)
|
rs372267046
|
0.00007
|
|
NM_001267550.2(TTN):c.64059T>C (p.Asp21353=)
|
rs377184630
|
0.00007
|
|
NM_001267550.2(TTN):c.64326G>A (p.Ala21442=)
|
rs377109969
|
0.00007
|
|
NM_001267550.2(TTN):c.65964C>T (p.Ile21988=)
|
rs371954292
|
0.00007
|
|
NM_001267550.2(TTN):c.66870T>C (p.Pro22290=)
|
rs1024438218
|
0.00007
|
|
NM_001267550.2(TTN):c.66C>T (p.Thr22=)
|
rs143623862
|
0.00007
|
|
NM_001267550.2(TTN):c.69660A>G (p.Ala23220=)
|
rs371996901
|
0.00007
|
|
NM_001267550.2(TTN):c.70042G>A (p.Ala23348Thr)
|
rs775146212
|
0.00007
|
|
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr)
|
rs375202101
|
0.00007
|
|
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=)
|
rs181702963
|
0.00007
|
|
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro)
|
rs369671334
|
0.00007
|
|
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile)
|
rs199860952
|
0.00007
|
|
NM_001267550.2(TTN):c.75129T>G (p.Val25043=)
|
rs767050764
|
0.00007
|
|
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg)
|
rs182161195
|
0.00007
|
|
NM_001267550.2(TTN):c.75702G>T (p.Gly25234=)
|
rs1056574481
|
0.00007
|
|
NM_001267550.2(TTN):c.76854A>G (p.Val25618=)
|
rs192902075
|
0.00007
|
|
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=)
|
rs370810609
|
0.00007
|
|
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)
|
rs375398118
|
0.00007
|
|
NM_001267550.2(TTN):c.79344G>T (p.Val26448=)
|
rs369875680
|
0.00007
|
|
NM_001267550.2(TTN):c.83073T>C (p.Ala27691=)
|
rs569803719
|
0.00007
|
|
NM_001267550.2(TTN):c.88117G>A (p.Glu29373Lys)
|
rs762557803
|
0.00007
|
|
NM_001267550.2(TTN):c.9326A>G (p.Lys3109Arg)
|
rs753036867
|
0.00007
|
|
NM_001267550.2(TTN):c.9571C>G (p.Gln3191Glu)
|
rs33997263
|
0.00007
|
|
NM_001267550.2(TTN):c.95962G>A (p.Val31988Met)
|
rs756469423
|
0.00007
|
|
NM_001267550.2(TTN):c.96873T>C (p.Thr32291=)
|
rs368169892
|
0.00007
|
|
NM_001267550.2(TTN):c.98225G>A (p.Gly32742Asp)
|
rs201850303
|
0.00007
|
|
NM_001378030.1(CCDC78):c.389G>A (p.Arg130Lys)
|
rs375016420
|
0.00007
|
|
NM_001378030.1(CCDC78):c.766-8G>A
|
rs371640942
|
0.00007
|
|
NM_001382567.1(STIM1):c.1729G>A (p.Glu577Lys)
|
rs371443357
|
0.00007
|
|
NM_001382567.1(STIM1):c.488C>A (p.Ala163Asp)
|
rs199893056
|
0.00007
|
|
NM_001458.5(FLNC):c.1053C>T (p.Thr351=)
|
rs375071103
|
0.00007
|
|
NM_001458.5(FLNC):c.1142G>A (p.Arg381His)
|
rs776469396
|
0.00007
|
|
NM_001458.5(FLNC):c.1492A>G (p.Lys498Glu)
|
rs781127889
|
0.00007
|
|
NM_001458.5(FLNC):c.1857C>T (p.Asp619=)
|
rs771469976
|
0.00007
|
|
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln)
|
rs765173966
|
0.00007
|
|
NM_001458.5(FLNC):c.205C>T (p.Arg69Trp)
|
rs758342140
|
0.00007
|
|
NM_001458.5(FLNC):c.2266-4G>A
|
rs371719048
|
0.00007
|
|
NM_001458.5(FLNC):c.2419C>T (p.Pro807Ser)
|
rs946201226
|
0.00007
|
|
NM_001458.5(FLNC):c.2843G>A (p.Gly948Glu)
|
rs373298499
|
0.00007
|
|
NM_001458.5(FLNC):c.3201T>G (p.Ala1067=)
|
rs760214102
|
0.00007
|
|
NM_001458.5(FLNC):c.3582G>A (p.Ser1194=)
|
rs200712644
|
0.00007
|
|
NM_001458.5(FLNC):c.3592G>C (p.Val1198Leu)
|
rs201912847
|
0.00007
|
|
NM_001458.5(FLNC):c.3872G>A (p.Arg1291His)
|
rs370042010
|
0.00007
|
|
NM_001458.5(FLNC):c.6825C>T (p.Ser2275=)
|
rs748970432
|
0.00007
|
|
NM_001458.5(FLNC):c.6999C>T (p.Ala2333=)
|
rs201735453
|
0.00007
|
|
NM_001458.5(FLNC):c.7458C>T (p.His2486=)
|
rs752390410
|
0.00007
|
|
NM_001458.5(FLNC):c.7605G>A (p.Ser2535=)
|
rs777724201
|
0.00007
|
|
NM_001458.5(FLNC):c.8020G>A (p.Gly2674Ser)
|
rs372338218
|
0.00007
|
|
NM_001843.4(CNTN1):c.1542C>T (p.Ala514=)
|
rs368497792
|
0.00007
|
|
NM_001848.3(COL6A1):c.1612-5T>C
|
rs371587579
|
0.00007
|
|
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)
|
rs374315921
|
0.00007
|
|
NM_001848.3(COL6A1):c.1777-16G>A
|
rs199838622
|
0.00007
|
|
NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln)
|
rs764762208
|
0.00007
|
|
NM_001848.3(COL6A1):c.2044C>T (p.Arg682Trp)
|
rs777378283
|
0.00007
|
|
NM_001848.3(COL6A1):c.2465-7C>T
|
rs376196793
|
0.00007
|
|
NM_001848.3(COL6A1):c.2752G>A (p.Asp918Asn)
|
rs750512162
|
0.00007
|
|
NM_001848.3(COL6A1):c.334G>A (p.Ala112Thr)
|
rs568865339
|
0.00007
|
|
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys)
|
rs145849970
|
0.00007
|
|
NM_001848.3(COL6A1):c.759+20C>T
|
rs555848716
|
0.00007
|
|
NM_001848.3(COL6A1):c.780G>A (p.Gly260=)
|
rs143396975
|
0.00007
|
|
NM_001849.4(COL6A2):c.1333-15C>T
|
rs759266010
|
0.00007
|
|
NM_001849.4(COL6A2):c.1779C>T (p.Asp593=)
|
rs139571947
|
0.00007
|
|
NM_001849.4(COL6A2):c.1969+10G>C
|
rs201259184
|
0.00007
|
|
NM_001849.4(COL6A2):c.2454C>T (p.Cys818=)
|
rs199499499
|
0.00007
|
|
NM_001849.4(COL6A2):c.2460A>C (p.Thr820=)
|
rs754900547
|
0.00007
|
|
NM_001849.4(COL6A2):c.2462-20G>A
|
rs559932204
|
0.00007
|
|
NM_001849.4(COL6A2):c.2518G>A (p.Gly840Ser)
|
rs373862445
|
0.00007
|
|
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln)
|
rs373813975
|
0.00007
|
|
NM_001849.4(COL6A2):c.2880G>A (p.Ser960=)
|
rs375430758
|
0.00007
|
|
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=)
|
rs61735832
|
0.00007
|
|
NM_001849.4(COL6A2):c.338G>A (p.Ser113Asn)
|
rs770387211
|
0.00007
|
|
NM_001849.4(COL6A2):c.981C>T (p.Asn327=)
|
rs768836349
|
0.00007
|
|
NM_001927.4(DES):c.1011C>T (p.Ala337=)
|
rs369537705
|
0.00007
|
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00007
|
|
NM_002469.3(MYF6):c.683C>T (p.Ser228Leu)
|
rs201098963
|
0.00007
|
|
NM_003283.6(TNNT1):c.134C>T (p.Pro45Leu)
|
rs201722303
|
0.00007
|
|
NM_003283.6(TNNT1):c.791+13G>A
|
rs758233147
|
0.00007
|
|
NM_004168.4(SDHA):c.1065-4C>A
|
rs575007678
|
0.00007
|
|
NM_004168.4(SDHA):c.290G>C (p.Arg97Thr)
|
rs371274523
|
0.00007
|
|
NM_004281.4(BAG3):c.470C>T (p.Ala157Val)
|
rs541080567
|
0.00007
|
|
NM_004281.4(BAG3):c.636C>T (p.His212=)
|
rs150379892
|
0.00007
|
|
NM_004281.4(BAG3):c.827G>A (p.Arg276Gln)
|
rs372970842
|
0.00007
|
|
NM_004281.4(BAG3):c.892G>A (p.Val298Met)
|
rs150048651
|
0.00007
|
|
NM_004369.4(COL6A3):c.1088G>A (p.Arg363His)
|
rs776329513
|
0.00007
|
|
NM_004369.4(COL6A3):c.1977C>T (p.Arg659=)
|
rs141280228
|
0.00007
|
|
NM_004369.4(COL6A3):c.1996G>A (p.Val666Ile)
|
rs111584250
|
0.00007
|
|
NM_004369.4(COL6A3):c.2864G>A (p.Arg955His)
|
rs112172548
|
0.00007
|
|
NM_004369.4(COL6A3):c.3598G>T (p.Val1200Phe)
|
rs779028054
|
0.00007
|
|
NM_004369.4(COL6A3):c.4064C>T (p.Pro1355Leu)
|
rs140863092
|
0.00007
|
|
NM_004369.4(COL6A3):c.4271G>A (p.Arg1424His)
|
rs149838946
|
0.00007
|
|
NM_004369.4(COL6A3):c.4494G>A (p.Pro1498=)
|
rs374885393
|
0.00007
|
|
NM_004369.4(COL6A3):c.5136A>G (p.Lys1712=)
|
rs748590690
|
0.00007
|
|
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val)
|
rs145447965
|
0.00007
|
|
NM_004369.4(COL6A3):c.5544C>A (p.Asp1848Glu)
|
rs531282669
|
0.00007
|
|
NM_004369.4(COL6A3):c.6768C>T (p.Ala2256=)
|
rs550085228
|
0.00007
|
|
NM_004369.4(COL6A3):c.707C>T (p.Thr236Ile)
|
rs886044270
|
0.00007
|
|
NM_004369.4(COL6A3):c.7376G>A (p.Arg2459Gln)
|
rs777496872
|
0.00007
|
|
NM_004369.4(COL6A3):c.8695A>G (p.Ile2899Val)
|
rs115839474
|
0.00007
|
|
NM_004370.6(COL12A1):c.1134C>T (p.His378=)
|
rs376523503
|
0.00007
|
|
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met)
|
rs374544349
|
0.00007
|
|
NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu)
|
rs376514006
|
0.00007
|
|
NM_004370.6(COL12A1):c.4187G>A (p.Arg1396Gln)
|
rs370549168
|
0.00007
|
|
NM_004370.6(COL12A1):c.4288-12T>A
|
rs377491153
|
0.00007
|
|
NM_004370.6(COL12A1):c.4644C>T (p.Val1548=)
|
rs747738369
|
0.00007
|
|
NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu)
|
rs373011926
|
0.00007
|
|
NM_004370.6(COL12A1):c.5939T>G (p.Ile1980Arg)
|
rs540867293
|
0.00007
|
|
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)
|
rs186328815
|
0.00007
|
|
NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn)
|
rs746183666
|
0.00007
|
|
NM_007078.3(LDB3):c.422C>T (p.Thr141Ile)
|
rs141078955
|
0.00007
|
|
NM_017534.6(MYH2):c.3384C>T (p.Ile1128=)
|
rs139130605
|
0.00007
|
|
NM_017534.6(MYH2):c.3683G>A (p.Ser1228Asn)
|
rs147439455
|
0.00007
|
|
NM_017534.6(MYH2):c.4724A>C (p.Lys1575Thr)
|
rs113713308
|
0.00007
|
|
NM_017534.6(MYH2):c.4932G>A (p.Glu1644=)
|
rs145740522
|
0.00007
|
|
NM_017534.6(MYH2):c.5171C>T (p.Thr1724Ile)
|
rs202050465
|
0.00007
|
|
NM_017534.6(MYH2):c.5708G>A (p.Arg1903His)
|
rs770302436
|
0.00007
|
|
NM_017534.6(MYH2):c.74T>C (p.Ile25Thr)
|
rs372837852
|
0.00007
|
|
NM_020451.3(SELENON):c.253A>G (p.Met85Val)
|
rs761605974
|
0.00007
|
|
NM_032790.4(ORAI1):c.884C>T (p.Thr295Met)
|
rs555170508
|
0.00007
|
|
NM_133378.4(TTN):c.28030+5G>A
|
rs145387989
|
0.00007
|
|
NM_138638.5(CFL2):c.4-95A>G
|
rs375656153
|
0.00007
|
|
NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly)
|
rs375322787
|
0.00007
|
|
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu)
|
rs753599819
|
0.00007
|
|
NM_139343.3(BIN1):c.1587C>T (p.His529=)
|
rs144458131
|
0.00007
|
|
NM_139343.3(BIN1):c.309C>T (p.Ile103=)
|
rs151288388
|
0.00007
|
|
NM_152393.4(KLHL40):c.1793G>A (p.Arg598Gln)
|
rs775821505
|
0.00007
|
|
NM_198271.5(LMOD3):c.1428G>A (p.Pro476=)
|
rs367573665
|
0.00007
|
|
NM_198271.5(LMOD3):c.1518C>A (p.Pro506=)
|
rs377380955
|
0.00007
|
|
NM_198859.4(PRICKLE2):c.1532G>C (p.Gly511Ala)
|
rs755987796
|
0.00007
|
|
NM_198859.4(PRICKLE2):c.1937A>G (p.Asp646Gly)
|
rs533891439
|
0.00007
|
|
NM_198859.4(PRICKLE2):c.2114G>C (p.Arg705Pro)
|
rs760877594
|
0.00007
|
|
NM_198859.4(PRICKLE2):c.437C>T (p.Ala146Val)
|
rs369686744
|
0.00007
|
|
NM_213720.3(CHCHD10):c.171G>A (p.Val57=)
|
rs780298646
|
0.00007
|
|
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr)
|
rs374353973
|
0.00007
|
|
NM_213720.3(CHCHD10):c.410-14C>T
|
rs375779737
|
0.00007
|
|
NM_000036.3(AMPD1):c.1092+12C>T
|
rs532506042
|
0.00006
|
|
NM_000036.3(AMPD1):c.1292G>A (p.Arg431His)
|
rs61757695
|
0.00006
|
|
NM_000036.3(AMPD1):c.1389-16T>A
|
rs778223264
|
0.00006
|
|
NM_000036.3(AMPD1):c.1399C>T (p.Arg467Cys)
|
rs587779370
|
0.00006
|
|
NM_000036.3(AMPD1):c.1807G>A (p.Val603Met)
|
rs776521726
|
0.00006
|
|
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=)
|
rs141773967
|
0.00006
|
|
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp)
|
rs372689133
|
0.00006
|
|
NM_000182.5(HADHA):c.1425C>T (p.Asn475=)
|
rs774394602
|
0.00006
|
|
NM_000182.5(HADHA):c.2010C>T (p.Asp670=)
|
rs377688807
|
0.00006
|
|
NM_000182.5(HADHA):c.816C>A (p.Ala272=)
|
rs764851270
|
0.00006
|
|
NM_000182.5(HADHA):c.975+6C>T
|
rs766717752
|
0.00006
|
|
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala)
|
rs371159065
|
0.00006
|
|
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp)
|
rs764006338
|
0.00006
|
|
NM_000183.3(HADHB):c.845G>A (p.Arg282His)
|
rs140355426
|
0.00006
|
|
NM_000252.3(MTM1):c.1455T>C (p.Ala485=)
|
rs141358705
|
0.00006
|
|
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr)
|
rs148195763
|
0.00006
|
|
NM_000252.3(MTM1):c.481G>A (p.Val161Met)
|
rs782744530
|
0.00006
|
|
NM_000252.3(MTM1):c.700G>C (p.Glu234Gln)
|
rs372053838
|
0.00006
|
|
NM_001100.4(ACTA1):c.808+13C>T
|
rs539461449
|
0.00006
|
|
NM_001101362.3(KBTBD13):c.1107C>G (p.Ile369Met)
|
rs757616268
|
0.00006
|
|
NM_001101362.3(KBTBD13):c.224A>C (p.Glu75Ala)
|
rs755775428
|
0.00006
|
|
NM_001101362.3(KBTBD13):c.305C>A (p.Thr102Lys)
|
rs1321779623
|
0.00006
|
|
NM_001101362.3(KBTBD13):c.43G>A (p.Gly15Ser)
|
rs779819069
|
0.00006
|
|
NM_001101362.3(KBTBD13):c.876G>A (p.Pro292=)
|
rs543905658
|
0.00006
|
|
NM_001101362.3(KBTBD13):c.891C>T (p.Gly297=)
|
rs756802075
|
0.00006
|
|
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln)
|
rs372284984
|
0.00006
|
|
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=)
|
rs727504033
|
0.00006
|
|
NM_001164508.2(NEB):c.10299C>G (p.Asp3433Glu)
|
rs180847025
|
0.00006
|
|
NM_001164508.2(NEB):c.10386A>G (p.Gln3462=)
|
rs749927128
|
0.00006
|
|
NM_001164508.2(NEB):c.10419G>A (p.Met3473Ile)
|
rs368842783
|
0.00006
|
|
NM_001164508.2(NEB):c.10821C>T (p.Pro3607=)
|
rs375814899
|
0.00006
|
|
NM_001164508.2(NEB):c.11199T>C (p.Ala3733=)
|
rs756871030
|
0.00006
|
|
NM_001164508.2(NEB):c.11221G>A (p.Gly3741Ser)
|
rs375657086
|
0.00006
|
|
NM_001164508.2(NEB):c.1152C>T (p.Asp384=)
|
rs767328072
|
0.00006
|
|
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)
|
rs556930902
|
0.00006
|
|
NM_001164508.2(NEB):c.11850C>T (p.His3950=)
|
rs777244382
|
0.00006
|
|
NM_001164508.2(NEB):c.12027C>T (p.Tyr4009=)
|
rs745881254
|
0.00006
|
|
NM_001164508.2(NEB):c.12074G>T (p.Ser4025Ile)
|
rs767858255
|
0.00006
|
|
NM_001164508.2(NEB):c.16983C>T (p.Leu5661=)
|
rs377481097
|
0.00006
|
|
NM_001164508.2(NEB):c.17118C>T (p.Asp5706=)
|
rs769476760
|
0.00006
|
|
NM_001164508.2(NEB):c.17519C>T (p.Ala5840Val)
|
rs539856643
|
0.00006
|
|
NM_001164508.2(NEB):c.17628C>T (p.Leu5876=)
|
rs377183242
|
0.00006
|
|
NM_001164508.2(NEB):c.18156+17T>G
|
rs200662106
|
0.00006
|
|
NM_001164508.2(NEB):c.18322C>T (p.Pro6108Ser)
|
rs750393216
|
0.00006
|
|
NM_001164508.2(NEB):c.18694-7A>T
|
rs373371474
|
0.00006
|
|
NM_001164508.2(NEB):c.18746A>G (p.Asn6249Ser)
|
rs550191566
|
0.00006
|
|
NM_001164508.2(NEB):c.19139A>G (p.Lys6380Arg)
|
rs757621444
|
0.00006
|
|
NM_001164508.2(NEB):c.19477G>A (p.Val6493Met)
|
rs1233717326
|
0.00006
|
|
NM_001164508.2(NEB):c.19535T>C (p.Ile6512Thr)
|
rs751483486
|
0.00006
|
|
NM_001164508.2(NEB):c.19557C>T (p.His6519=)
|
rs371785128
|
0.00006
|
|
NM_001164508.2(NEB):c.19576G>A (p.Asp6526Asn)
|
rs201731351
|
0.00006
|
|
NM_001164508.2(NEB):c.19674C>T (p.Tyr6558=)
|
rs201515651
|
0.00006
|
|
NM_001164508.2(NEB):c.19749C>T (p.His6583=)
|
rs768711941
|
0.00006
|
|
NM_001164508.2(NEB):c.20127C>T (p.His6709=)
|
rs368328496
|
0.00006
|
|
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile)
|
rs775553284
|
0.00006
|
|
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His)
|
rs755370356
|
0.00006
|
|
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His)
|
rs773584363
|
0.00006
|
|
NM_001164508.2(NEB):c.21215A>G (p.Tyr7072Cys)
|
rs763554121
|
0.00006
|
|
NM_001164508.2(NEB):c.21337A>G (p.Met7113Val)
|
rs750039342
|
0.00006
|
|
NM_001164508.2(NEB):c.22037A>T (p.Asn7346Ile)
|
rs140982447
|
0.00006
|
|
NM_001164508.2(NEB):c.2215A>G (p.Thr739Ala)
|
rs754959175
|
0.00006
|
|
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg)
|
rs201548700
|
0.00006
|
|
NM_001164508.2(NEB):c.22832G>A (p.Arg7611Gln)
|
rs766072117
|
0.00006
|
|
NM_001164508.2(NEB):c.23048T>C (p.Ile7683Thr)
|
rs374941096
|
0.00006
|
|
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His)
|
rs372699411
|
0.00006
|
|
NM_001164508.2(NEB):c.23083C>A (p.Pro7695Thr)
|
rs757006805
|
0.00006
|
|
NM_001164508.2(NEB):c.2354A>G (p.His785Arg)
|
rs370296542
|
0.00006
|
|
NM_001164508.2(NEB):c.23742+2T>C
|
rs545937015
|
0.00006
|
|
NM_001164508.2(NEB):c.23967A>G (p.Leu7989=)
|
rs769117795
|
0.00006
|
|
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)
|
rs1458048713
|
0.00006
|
|
NM_001164508.2(NEB):c.2415T>C (p.Asp805=)
|
rs566989836
|
0.00006
|
|
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile)
|
rs758996758
|
0.00006
|
|
NM_001164508.2(NEB):c.24909T>C (p.Gly8303=)
|
rs754365974
|
0.00006
|
|
NM_001164508.2(NEB):c.2515A>G (p.Thr839Ala)
|
rs779630318
|
0.00006
|
|
NM_001164508.2(NEB):c.25260G>A (p.Ser8420=)
|
rs1390774664
|
0.00006
|
|
NM_001164508.2(NEB):c.25297+15C>T
|
rs10199238
|
0.00006
|
|
NM_001164508.2(NEB):c.25368G>A (p.Thr8456=)
|
rs200083849
|
0.00006
|
|
NM_001164508.2(NEB):c.3255+1G>A
|
rs375628303
|
0.00006
|
|
NM_001164508.2(NEB):c.3520G>A (p.Ala1174Thr)
|
rs756135837
|
0.00006
|
|
NM_001164508.2(NEB):c.4103G>A (p.Arg1368His)
|
rs201984572
|
0.00006
|
|
NM_001164508.2(NEB):c.4251C>T (p.Asp1417=)
|
rs550832252
|
0.00006
|
|
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr)
|
rs554984749
|
0.00006
|
|
NM_001164508.2(NEB):c.507+9A>G
|
rs372645309
|
0.00006
|
|
NM_001164508.2(NEB):c.5247C>T (p.Tyr1749=)
|
rs777520288
|
0.00006
|
|
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu)
|
rs370000978
|
0.00006
|
|
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=)
|
rs150496369
|
0.00006
|
|
NM_001164508.2(NEB):c.5410G>A (p.Ala1804Thr)
|
rs369275207
|
0.00006
|
|
NM_001164508.2(NEB):c.5551A>G (p.Lys1851Glu)
|
rs746409256
|
0.00006
|
|
NM_001164508.2(NEB):c.5925G>A (p.Ser1975=)
|
rs1206630690
|
0.00006
|
|
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)
|
rs375412223
|
0.00006
|
|
NM_001164508.2(NEB):c.6076-9T>C
|
rs765399302
|
0.00006
|
|
NM_001164508.2(NEB):c.6119A>G (p.Tyr2040Cys)
|
rs756926807
|
0.00006
|
|
NM_001164508.2(NEB):c.6368C>T (p.Thr2123Met)
|
rs371109129
|
0.00006
|
|
NM_001164508.2(NEB):c.738C>T (p.Leu246=)
|
rs368500993
|
0.00006
|
|
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly)
|
rs149430473
|
0.00006
|
|
NM_001164508.2(NEB):c.7459G>A (p.Asp2487Asn)
|
rs764278567
|
0.00006
|
|
NM_001164508.2(NEB):c.7696C>T (p.Arg2566Trp)
|
rs368232288
|
0.00006
|
|
NM_001164508.2(NEB):c.7737T>C (p.His2579=)
|
rs528614990
|
0.00006
|
|
NM_001164508.2(NEB):c.78+6G>A
|
rs376085885
|
0.00006
|
|
NM_001164508.2(NEB):c.7875G>A (p.Lys2625=)
|
rs577894144
|
0.00006
|
|
NM_001164508.2(NEB):c.7931G>A (p.Arg2644Gln)
|
rs557950249
|
0.00006
|
|
NM_001164508.2(NEB):c.7953C>T (p.Ser2651=)
|
rs183764569
|
0.00006
|
|
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg)
|
rs201119402
|
0.00006
|
|
NM_001164508.2(NEB):c.9055G>A (p.Ala3019Thr)
|
rs370738668
|
0.00006
|
|
NM_001164508.2(NEB):c.9360G>A (p.Leu3120=)
|
rs749865900
|
0.00006
|
|
NM_001164508.2(NEB):c.9369G>A (p.Gln3123=)
|
rs763454860
|
0.00006
|
|
NM_001164508.2(NEB):c.9468T>C (p.Ile3156=)
|
rs751747575
|
0.00006
|
|
NM_001164508.2(NEB):c.9529C>T (p.Arg3177Cys)
|
rs758363933
|
0.00006
|
|
NM_001164508.2(NEB):c.9883C>T (p.Arg3295Trp)
|
rs750990726
|
0.00006
|
|
NM_001256545.2(MEGF10):c.1009G>A (p.Gly337Ser)
|
rs779799530
|
0.00006
|
|
NM_001256545.2(MEGF10):c.1012G>A (p.Ala338Thr)
|
rs568794084
|
0.00006
|
|
NM_001256545.2(MEGF10):c.120C>T (p.Tyr40=)
|
rs372038844
|
0.00006
|
|
NM_001256545.2(MEGF10):c.1435G>A (p.Gly479Arg)
|
rs372163689
|
0.00006
|
|
NM_001256545.2(MEGF10):c.1593T>C (p.Asp531=)
|
rs375928516
|
0.00006
|
|
NM_001256545.2(MEGF10):c.1840+9C>G
|
rs371418375
|
0.00006
|
|
NM_001256545.2(MEGF10):c.1959C>T (p.Gly653=)
|
rs146017981
|
0.00006
|
|
NM_001256545.2(MEGF10):c.2104+7C>A
|
rs371274853
|
0.00006
|
|
NM_001256545.2(MEGF10):c.2175C>T (p.Ser725=)
|
rs558369303
|
0.00006
|
|
NM_001256545.2(MEGF10):c.2347C>T (p.Arg783Trp)
|
rs754251946
|
0.00006
|
|
NM_001256545.2(MEGF10):c.2547C>G (p.Leu849=)
|
rs766713197
|
0.00006
|
|
NM_001256545.2(MEGF10):c.2587A>G (p.Ile863Val)
|
rs148862988
|
0.00006
|
|
NM_001256545.2(MEGF10):c.2749G>C (p.Gly917Arg)
|
rs779588329
|
0.00006
|
|
NM_001256545.2(MEGF10):c.2857-2A>G
|
rs199750143
|
0.00006
|
|
NM_001256545.2(MEGF10):c.319C>T (p.Pro107Ser)
|
rs200163743
|
0.00006
|
|
NM_001256545.2(MEGF10):c.350G>A (p.Arg117His)
|
rs749238106
|
0.00006
|
|
NM_001256545.2(MEGF10):c.395G>A (p.Gly132Glu)
|
rs765580552
|
0.00006
|
|
NM_001256545.2(MEGF10):c.417C>T (p.Cys139=)
|
rs148349018
|
0.00006
|
|
NM_001256545.2(MEGF10):c.451C>T (p.Arg151Trp)
|
rs767672691
|
0.00006
|
|
NM_001267550.2(TTN):c.101218G>A (p.Gly33740Arg)
|
rs536705240
|
0.00006
|
|
NM_001267550.2(TTN):c.101505T>C (p.Arg33835=)
|
rs368694347
|
0.00006
|
|
NM_001267550.2(TTN):c.101637T>C (p.His33879=)
|
rs373461875
|
0.00006
|
|
NM_001267550.2(TTN):c.102191C>T (p.Ala34064Val)
|
rs149921607
|
0.00006
|
|
NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr)
|
rs764179161
|
0.00006
|
|
NM_001267550.2(TTN):c.102540T>C (p.Ser34180=)
|
rs368844570
|
0.00006
|
|
NM_001267550.2(TTN):c.102736C>T (p.Arg34246Cys)
|
rs879047941
|
0.00006
|
|
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)
|
rs149391616
|
0.00006
|
|
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys)
|
rs777626473
|
0.00006
|
|
NM_001267550.2(TTN):c.103772G>A (p.Arg34591Gln)
|
rs778021095
|
0.00006
|
|
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp)
|
rs200716930
|
0.00006
|
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00006
|
|
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys)
|
rs530959653
|
0.00006
|
|
NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile)
|
rs727505306
|
0.00006
|
|
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)
|
rs727505020
|
0.00006
|
|
NM_001267550.2(TTN):c.10435G>A (p.Gly3479Arg)
|
rs746691102
|
0.00006
|
|
NM_001267550.2(TTN):c.104561T>G (p.Val34854Gly)
|
rs768717312
|
0.00006
|
|
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=)
|
rs72629789
|
0.00006
|
|
NM_001267550.2(TTN):c.105413T>C (p.Met35138Thr)
|
rs771741670
|
0.00006
|
|
NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys)
|
rs200123047
|
0.00006
|
|
NM_001267550.2(TTN):c.106025A>G (p.Tyr35342Cys)
|
rs1060500560
|
0.00006
|
|
NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys)
|
rs145560044
|
0.00006
|
|
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His)
|
rs199663911
|
0.00006
|
|
NM_001267550.2(TTN):c.106532-19del
|
rs780849261
|
0.00006
|
|
NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu)
|
rs551063889
|
0.00006
|
|
NM_001267550.2(TTN):c.10659A>G (p.Thr3553=)
|
rs748958021
|
0.00006
|
|
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala)
|
rs368179478
|
0.00006
|
|
NM_001267550.2(TTN):c.106926C>T (p.Gly35642=)
|
rs761965591
|
0.00006
|
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
|
NM_001267550.2(TTN):c.107364C>T (p.Ser35788=)
|
rs1057521273
|
0.00006
|
|
NM_001267550.2(TTN):c.11361C>T (p.Ala3787=)
|
rs747366406
|
0.00006
|
|
NM_001267550.2(TTN):c.11667G>T (p.Glu3889Asp)
|
rs377423256
|
0.00006
|
|
NM_001267550.2(TTN):c.12543C>T (p.Thr4181=)
|
rs764856949
|
0.00006
|
|
NM_001267550.2(TTN):c.12558A>G (p.Pro4186=)
|
rs72648921
|
0.00006
|
|
NM_001267550.2(TTN):c.12801A>T (p.Leu4267Phe)
|
rs750553032
|
0.00006
|
|
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn)
|
rs200348414
|
0.00006
|
|
NM_001267550.2(TTN):c.1413G>A (p.Ala471=)
|
rs373132777
|
0.00006
|
|
NM_001267550.2(TTN):c.14343C>T (p.Val4781=)
|
rs570400005
|
0.00006
|
|
NM_001267550.2(TTN):c.14999G>A (p.Arg5000His)
|
rs377062348
|
0.00006
|
|
NM_001267550.2(TTN):c.15185G>A (p.Ser5062Asn)
|
rs371687650
|
0.00006
|
|
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn)
|
rs576904726
|
0.00006
|
|
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys)
|
rs561557554
|
0.00006
|
|
NM_001267550.2(TTN):c.17869C>G (p.Gln5957Glu)
|
rs201672969
|
0.00006
|
|
NM_001267550.2(TTN):c.17893T>C (p.Tyr5965His)
|
rs752226947
|
0.00006
|
|
NM_001267550.2(TTN):c.18231C>T (p.Thr6077=)
|
rs377639910
|
0.00006
|
|
NM_001267550.2(TTN):c.1834A>G (p.Lys612Glu)
|
rs727505256
|
0.00006
|
|
NM_001267550.2(TTN):c.19464C>G (p.Thr6488=)
|
rs777109269
|
0.00006
|
|
NM_001267550.2(TTN):c.19697G>C (p.Gly6566Ala)
|
rs1052515116
|
0.00006
|
|
NM_001267550.2(TTN):c.19964A>G (p.Asp6655Gly)
|
rs772947420
|
0.00006
|
|
NM_001267550.2(TTN):c.2032A>G (p.Thr678Ala)
|
rs878854290
|
0.00006
|
|
NM_001267550.2(TTN):c.20355G>A (p.Ser6785=)
|
rs549470227
|
0.00006
|
|
NM_001267550.2(TTN):c.20836+18C>T
|
rs759032534
|
0.00006
|
|
NM_001267550.2(TTN):c.20837-12G>A
|
rs534822724
|
0.00006
|
|
NM_001267550.2(TTN):c.21653C>T (p.Ala7218Val)
|
rs763125654
|
0.00006
|
|
NM_001267550.2(TTN):c.21744T>C (p.Ile7248=)
|
rs779975469
|
0.00006
|
|
NM_001267550.2(TTN):c.21961+17T>C
|
rs778923336
|
0.00006
|
|
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=)
|
rs202102237
|
0.00006
|
|
NM_001267550.2(TTN):c.22241-5T>C
|
rs397517501
|
0.00006
|
|
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys)
|
rs754885396
|
0.00006
|
|
NM_001267550.2(TTN):c.23085G>A (p.Ala7695=)
|
rs768936623
|
0.00006
|
|
NM_001267550.2(TTN):c.2331C>G (p.Ile777Met)
|
rs1157627413
|
0.00006
|
|
NM_001267550.2(TTN):c.23382T>A (p.Pro7794=)
|
rs768874223
|
0.00006
|
|
NM_001267550.2(TTN):c.24506-17_24506-16del
|
rs776041749
|
0.00006
|
|
NM_001267550.2(TTN):c.24756T>G (p.Asp8252Glu)
|
rs764248656
|
0.00006
|
|
NM_001267550.2(TTN):c.24785-16A>G
|
rs201107387
|
0.00006
|
|
NM_001267550.2(TTN):c.25231G>A (p.Val8411Ile)
|
rs760523669
|
0.00006
|
|
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser)
|
rs369385294
|
0.00006
|
|
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met)
|
rs368151971
|
0.00006
|
|
NM_001267550.2(TTN):c.26472A>G (p.Leu8824=)
|
rs542575360
|
0.00006
|
|
NM_001267550.2(TTN):c.26506C>T (p.Pro8836Ser)
|
rs776799144
|
0.00006
|
|
NM_001267550.2(TTN):c.27015T>C (p.Gly9005=)
|
rs727503643
|
0.00006
|
|
NM_001267550.2(TTN):c.27050-6G>A
|
rs765624428
|
0.00006
|
|
NM_001267550.2(TTN):c.27615G>A (p.Pro9205=)
|
rs750218480
|
0.00006
|
|
NM_001267550.2(TTN):c.27631T>C (p.Leu9211=)
|
rs563954136
|
0.00006
|
|
NM_001267550.2(TTN):c.27709T>G (p.Ser9237Ala)
|
rs766638714
|
0.00006
|
|
NM_001267550.2(TTN):c.28462+11T>C
|
rs563062273
|
0.00006
|
|
NM_001267550.2(TTN):c.29041+17A>T
|
rs746635297
|
0.00006
|
|
NM_001267550.2(TTN):c.29041+18del
|
rs747899220
|
0.00006
|
|
NM_001267550.2(TTN):c.29115G>A (p.Gln9705=)
|
rs773659138
|
0.00006
|
|
NM_001267550.2(TTN):c.29637C>T (p.Asp9879=)
|
rs375591605
|
0.00006
|
|
NM_001267550.2(TTN):c.29944G>A (p.Ala9982Thr)
|
rs200745162
|
0.00006
|
|
NM_001267550.2(TTN):c.31270+12G>T
|
rs564264476
|
0.00006
|
|
NM_001267550.2(TTN):c.3132C>T (p.Ala1044=)
|
rs777315600
|
0.00006
|
|
NM_001267550.2(TTN):c.32161G>A (p.Ala10721Thr)
|
rs753365187
|
0.00006
|
|
NM_001267550.2(TTN):c.32198-10T>C
|
rs371121439
|
0.00006
|
|
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)
|
rs368282893
|
0.00006
|
|
NM_001267550.2(TTN):c.33173-4G>A
|
rs727504440
|
0.00006
|
|
NM_001267550.2(TTN):c.33742+1G>T
|
rs772114165
|
0.00006
|
|
NM_001267550.2(TTN):c.35082C>T (p.Gly11694=)
|
rs377761863
|
0.00006
|
|
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter)
|
rs1266298136
|
0.00006
|
|
NM_001267550.2(TTN):c.36865C>A (p.Arg12289Ser)
|
rs1480219250
|
0.00006
|
|
NM_001267550.2(TTN):c.37099C>G (p.Pro12367Ala)
|
rs973940125
|
0.00006
|
|
NM_001267550.2(TTN):c.37446C>G (p.Pro12482=)
|
rs1434836109
|
0.00006
|
|
NM_001267550.2(TTN):c.37860C>T (p.Ala12620=)
|
rs1446730289
|
0.00006
|
|
NM_001267550.2(TTN):c.37873+9T>A
|
rs1060503931
|
0.00006
|
|
NM_001267550.2(TTN):c.38161G>T (p.Val12721Leu)
|
rs794729416
|
0.00006
|
|
NM_001267550.2(TTN):c.38487C>T (p.Ala12829=)
|
rs758210075
|
0.00006
|
|
NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly)
|
rs368056479
|
0.00006
|
|
NM_001267550.2(TTN):c.39067G>T (p.Val13023Phe)
|
rs774402932
|
0.00006
|
|
NM_001267550.2(TTN):c.39090G>A (p.Ala13030=)
|
rs375519815
|
0.00006
|
|
NM_001267550.2(TTN):c.39389C>T (p.Pro13130Leu)
|
rs370520319
|
0.00006
|
|
NM_001267550.2(TTN):c.39547+19T>C
|
rs559113689
|
0.00006
|
|
NM_001267550.2(TTN):c.39885G>A (p.Pro13295=)
|
rs756518824
|
0.00006
|
|
NM_001267550.2(TTN):c.39895+1G>T
|
rs749931280
|
0.00006
|
|
NM_001267550.2(TTN):c.39974-11T>G
|
rs758597536
|
0.00006
|
|
NM_001267550.2(TTN):c.40227T>C (p.Arg13409=)
|
rs3754951
|
0.00006
|
|
NM_001267550.2(TTN):c.40787-20C>T
|
rs771157322
|
0.00006
|
|
NM_001267550.2(TTN):c.40998G>A (p.Glu13666=)
|
rs547824083
|
0.00006
|
|
NM_001267550.2(TTN):c.42151+17A>G
|
rs546392087
|
0.00006
|
|
NM_001267550.2(TTN):c.42415+7G>A
|
rs772004291
|
0.00006
|
|
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr)
|
rs369623392
|
0.00006
|
|
NM_001267550.2(TTN):c.42795T>C (p.Asp14265=)
|
rs750211026
|
0.00006
|
|
NM_001267550.2(TTN):c.43501A>G (p.Thr14501Ala)
|
rs764500643
|
0.00006
|
|
NM_001267550.2(TTN):c.43970G>C (p.Cys14657Ser)
|
rs774245300
|
0.00006
|
|
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu)
|
rs201390600
|
0.00006
|
|
NM_001267550.2(TTN):c.44273G>A (p.Arg14758Gln)
|
rs770389312
|
0.00006
|
|
NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu)
|
rs751929345
|
0.00006
|
|
NM_001267550.2(TTN):c.44848G>A (p.Asp14950Asn)
|
rs571524382
|
0.00006
|
|
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu)
|
rs200931793
|
0.00006
|
|
NM_001267550.2(TTN):c.45083-12C>T
|
rs377143579
|
0.00006
|
|
NM_001267550.2(TTN):c.46430-8C>T
|
rs773395217
|
0.00006
|
|
NM_001267550.2(TTN):c.47598A>G (p.Leu15866=)
|
rs879099244
|
0.00006
|
|
NM_001267550.2(TTN):c.47859C>T (p.Thr15953=)
|
rs769989672
|
0.00006
|
|
NM_001267550.2(TTN):c.47866G>A (p.Asp15956Asn)
|
rs372881122
|
0.00006
|
|
NM_001267550.2(TTN):c.48296G>A (p.Arg16099Gln)
|
rs376747673
|
0.00006
|
|
NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys)
|
rs748917057
|
0.00006
|
|
NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn)
|
rs199954570
|
0.00006
|
|
NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr)
|
rs372911542
|
0.00006
|
|
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)
|
rs72677245
|
0.00006
|
|
NM_001267550.2(TTN):c.49476T>C (p.Pro16492=)
|
rs180961450
|
0.00006
|
|
NM_001267550.2(TTN):c.49560A>T (p.Lys16520Asn)
|
rs779658426
|
0.00006
|
|
NM_001267550.2(TTN):c.49740T>C (p.Gly16580=)
|
rs763857395
|
0.00006
|
|
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)
|
rs72677247
|
0.00006
|
|
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu)
|
rs773271774
|
0.00006
|
|
NM_001267550.2(TTN):c.49937G>A (p.Arg16646Gln)
|
rs746384579
|
0.00006
|
|
NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln)
|
rs573695008
|
0.00006
|
|
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val)
|
rs373305248
|
0.00006
|
|
NM_001267550.2(TTN):c.52188T>C (p.Asp17396=)
|
rs757796723
|
0.00006
|
|
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala)
|
rs773027240
|
0.00006
|
|
NM_001267550.2(TTN):c.53002+10G>A
|
rs370352450
|
0.00006
|
|
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=)
|
rs771792080
|
0.00006
|
|
NM_001267550.2(TTN):c.53507G>A (p.Arg17836His)
|
rs373526624
|
0.00006
|
|
NM_001267550.2(TTN):c.53744G>A (p.Arg17915Gln)
|
rs758896047
|
0.00006
|
|
NM_001267550.2(TTN):c.53899T>A (p.Leu17967Met)
|
rs761733751
|
0.00006
|
|
NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser)
|
rs766074604
|
0.00006
|
|
NM_001267550.2(TTN):c.54518C>A (p.Pro18173Gln)
|
rs794729458
|
0.00006
|
|
NM_001267550.2(TTN):c.54947C>G (p.Thr18316Ser)
|
rs758527900
|
0.00006
|
|
NM_001267550.2(TTN):c.55059T>C (p.Asn18353=)
|
rs553295928
|
0.00006
|
|
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)
|
rs72646819
|
0.00006
|
|
NM_001267550.2(TTN):c.55435G>A (p.Val18479Ile)
|
rs559712998
|
0.00006
|
|
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg)
|
rs770499179
|
0.00006
|
|
NM_001267550.2(TTN):c.55809G>A (p.Pro18603=)
|
rs750472100
|
0.00006
|
|
NM_001267550.2(TTN):c.56315C>T (p.Thr18772Ile)
|
rs370118111
|
0.00006
|
|
NM_001267550.2(TTN):c.56911G>A (p.Val18971Met)
|
rs373153121
|
0.00006
|
|
NM_001267550.2(TTN):c.56943G>A (p.Ala18981=)
|
rs370998052
|
0.00006
|
|
NM_001267550.2(TTN):c.570A>T (p.Glu190Asp)
|
rs753196873
|
0.00006
|
|
NM_001267550.2(TTN):c.57112-14T>C
|
rs777473081
|
0.00006
|
|
NM_001267550.2(TTN):c.57382A>G (p.Met19128Val)
|
rs138367112
|
0.00006
|
|
NM_001267550.2(TTN):c.5740G>A (p.Ala1914Thr)
|
rs118161093
|
0.00006
|
|
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)
|
rs397517630
|
0.00006
|
|
NM_001267550.2(TTN):c.59173G>A (p.Glu19725Lys)
|
rs767601396
|
0.00006
|
|
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)
|
rs376465623
|
0.00006
|
|
NM_001267550.2(TTN):c.59707G>C (p.Asp19903His)
|
rs374163882
|
0.00006
|
|
NM_001267550.2(TTN):c.60002C>T (p.Pro20001Leu)
|
rs727505345
|
0.00006
|
|
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=)
|
rs767152563
|
0.00006
|
|
NM_001267550.2(TTN):c.60471C>T (p.Ala20157=)
|
rs397517645
|
0.00006
|
|
NM_001267550.2(TTN):c.60654G>A (p.Thr20218=)
|
rs776141268
|
0.00006
|
|
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp)
|
rs727504479
|
0.00006
|
|
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His)
|
rs370887455
|
0.00006
|
|
NM_001267550.2(TTN):c.61695C>T (p.Asn20565=)
|
rs554051600
|
0.00006
|
|
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile)
|
rs764777213
|
0.00006
|
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
|
NM_001267550.2(TTN):c.62149A>G (p.Arg20717Gly)
|
rs75458912
|
0.00006
|
|
NM_001267550.2(TTN):c.62679C>T (p.Gly20893=)
|
rs188059075
|
0.00006
|
|
NM_001267550.2(TTN):c.62844T>G (p.Pro20948=)
|
rs770335539
|
0.00006
|
|
NM_001267550.2(TTN):c.63132T>C (p.Ile21044=)
|
rs561183059
|
0.00006
|
|
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn)
|
rs199505416
|
0.00006
|
|
NM_001267550.2(TTN):c.64175G>A (p.Arg21392His)
|
rs777176324
|
0.00006
|
|
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu)
|
rs777009984
|
0.00006
|
|
NM_001267550.2(TTN):c.64673-5T>C
|
rs530496528
|
0.00006
|
|
NM_001267550.2(TTN):c.64734C>T (p.Ser21578=)
|
rs773855604
|
0.00006
|
|
NM_001267550.2(TTN):c.64860G>A (p.Arg21620=)
|
rs373713828
|
0.00006
|
|
NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu)
|
rs371581072
|
0.00006
|
|
NM_001267550.2(TTN):c.65379C>T (p.Phe21793=)
|
rs377017745
|
0.00006
|
|
NM_001267550.2(TTN):c.65915G>A (p.Arg21972His)
|
rs200217934
|
0.00006
|
|
NM_001267550.2(TTN):c.66105A>T (p.Lys22035Asn)
|
rs373681189
|
0.00006
|
|
NM_001267550.2(TTN):c.66160+15C>T
|
rs377288086
|
0.00006
|
|
NM_001267550.2(TTN):c.66480G>A (p.Pro22160=)
|
rs372814670
|
0.00006
|
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
|
NM_001267550.2(TTN):c.67636+11A>G
|
rs185898410
|
0.00006
|
|
NM_001267550.2(TTN):c.68208T>A (p.Val22736=)
|
rs727503575
|
0.00006
|
|
NM_001267550.2(TTN):c.68341G>A (p.Glu22781Lys)
|
rs760286642
|
0.00006
|
|
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile)
|
rs183056142
|
0.00006
|
|
NM_001267550.2(TTN):c.69103G>A (p.Val23035Ile)
|
rs200878877
|
0.00006
|
|
NM_001267550.2(TTN):c.69251G>A (p.Arg23084Gln)
|
rs200191748
|
0.00006
|
|
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)
|
rs764882950
|
0.00006
|
|
NM_001267550.2(TTN):c.69741G>A (p.Pro23247=)
|
rs566393354
|
0.00006
|
|
NM_001267550.2(TTN):c.7023C>T (p.Asp2341=)
|
rs761409144
|
0.00006
|
|
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=)
|
rs397517684
|
0.00006
|
|
NM_001267550.2(TTN):c.70380G>A (p.Leu23460=)
|
rs185660043
|
0.00006
|
|
NM_001267550.2(TTN):c.70470T>C (p.His23490=)
|
rs879185626
|
0.00006
|
|
NM_001267550.2(TTN):c.70645G>A (p.Val23549Ile)
|
rs755669336
|
0.00006
|
|
NM_001267550.2(TTN):c.70851A>G (p.Arg23617=)
|
rs753207751
|
0.00006
|
|
NM_001267550.2(TTN):c.70975G>A (p.Gly23659Ser)
|
rs376256345
|
0.00006
|
|
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr)
|
rs371818894
|
0.00006
|
|
NM_001267550.2(TTN):c.71487T>C (p.Pro23829=)
|
rs1271635071
|
0.00006
|
|
NM_001267550.2(TTN):c.72992G>A (p.Arg24331His)
|
rs755174224
|
0.00006
|
|
NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=)
|
rs545377175
|
0.00006
|
|
NM_001267550.2(TTN):c.73636G>C (p.Asp24546His)
|
rs1051495269
|
0.00006
|
|
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln)
|
rs201694149
|
0.00006
|
|
NM_001267550.2(TTN):c.74504A>G (p.Tyr24835Cys)
|
rs201724962
|
0.00006
|
|
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp)
|
rs368914555
|
0.00006
|
|
NM_001267550.2(TTN):c.75099C>T (p.Asp25033=)
|
rs370272814
|
0.00006
|
|
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup)
|
rs772268958
|
0.00006
|
|
NM_001267550.2(TTN):c.76699G>T (p.Val25567Phe)
|
rs3813244
|
0.00006
|
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
|
NM_001267550.2(TTN):c.76967A>G (p.His25656Arg)
|
rs755172663
|
0.00006
|
|
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr)
|
rs199514898
|
0.00006
|
|
NM_001267550.2(TTN):c.77749T>C (p.Tyr25917His)
|
rs370137092
|
0.00006
|
|
NM_001267550.2(TTN):c.7890C>A (p.Thr2630=)
|
rs144247127
|
0.00006
|
|
NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu)
|
rs200489046
|
0.00006
|
|
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu)
|
rs200406978
|
0.00006
|
|
NM_001267550.2(TTN):c.81758A>G (p.Asn27253Ser)
|
rs529055709
|
0.00006
|
|
NM_001267550.2(TTN):c.81891C>T (p.Ala27297=)
|
rs370796537
|
0.00006
|
|
NM_001267550.2(TTN):c.82084A>G (p.Ile27362Val)
|
rs886039181
|
0.00006
|
|
NM_001267550.2(TTN):c.83081G>A (p.Arg27694His)
|
rs775499341
|
0.00006
|
|
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu)
|
rs188323108
|
0.00006
|
|
NM_001267550.2(TTN):c.83514C>T (p.Phe27838=)
|
rs779213695
|
0.00006
|
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
|
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln)
|
rs764437671
|
0.00006
|
|
NM_001267550.2(TTN):c.85462G>A (p.Val28488Ile)
|
rs377264123
|
0.00006
|
|
NM_001267550.2(TTN):c.85976A>C (p.Lys28659Thr)
|
rs200724395
|
0.00006
|
|
NM_001267550.2(TTN):c.86046G>A (p.Pro28682=)
|
rs566982088
|
0.00006
|
|
NM_001267550.2(TTN):c.86463A>G (p.Gly28821=)
|
rs368268066
|
0.00006
|
|
NM_001267550.2(TTN):c.86550C>A (p.Thr28850=)
|
rs762837581
|
0.00006
|
|
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)
|
rs727504793
|
0.00006
|
|
NM_001267550.2(TTN):c.86903A>G (p.His28968Arg)
|
rs754679595
|
0.00006
|
|
NM_001267550.2(TTN):c.87201A>C (p.Pro29067=)
|
rs989274784
|
0.00006
|
|
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn)
|
rs757300589
|
0.00006
|
|
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=)
|
rs746569192
|
0.00006
|
|
NM_001267550.2(TTN):c.91089G>A (p.Lys30363=)
|
rs762103106
|
0.00006
|
|
NM_001267550.2(TTN):c.9195G>A (p.Lys3065=)
|
rs780650145
|
0.00006
|
|
NM_001267550.2(TTN):c.919G>A (p.Val307Met)
|
rs371056974
|
0.00006
|
|
NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=)
|
rs182422055
|
0.00006
|
|
NM_001267550.2(TTN):c.92152+11G>A
|
rs372798472
|
0.00006
|
|
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn)
|
rs200621611
|
0.00006
|
|
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val)
|
rs570464905
|
0.00006
|
|
NM_001267550.2(TTN):c.93179G>A (p.Arg31060His)
|
rs776018262
|
0.00006
|
|
NM_001267550.2(TTN):c.93254C>T (p.Pro31085Leu)
|
rs549841864
|
0.00006
|
|
NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr)
|
rs373732722
|
0.00006
|
|
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=)
|
rs561739832
|
0.00006
|
|
NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile)
|
rs184078016
|
0.00006
|
|
NM_001267550.2(TTN):c.94774G>A (p.Val31592Ile)
|
rs370918800
|
0.00006
|
|
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp)
|
rs2288326
|
0.00006
|
|
NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser)
|
rs139992576
|
0.00006
|
|
NM_001267550.2(TTN):c.95305G>A (p.Val31769Ile)
|
rs374445709
|
0.00006
|
|
NM_001267550.2(TTN):c.95406A>G (p.Arg31802=)
|
rs199652273
|
0.00006
|
|
NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln)
|
rs369835255
|
0.00006
|
|
NM_001267550.2(TTN):c.9639C>T (p.Ser3213=)
|
rs760666570
|
0.00006
|
|
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile)
|
rs779663332
|
0.00006
|
|
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)
|
rs764561909
|
0.00006
|
|
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)
|
rs202011992
|
0.00006
|
|
NM_001267550.2(TTN):c.96904+13T>G
|
rs779376692
|
0.00006
|
|
NM_001267550.2(TTN):c.97192+15C>T
|
rs777269400
|
0.00006
|
|
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro)
|
rs184922462
|
0.00006
|
|
NM_001267550.2(TTN):c.97537C>T (p.Arg32513Cys)
|
rs1279110183
|
0.00006
|
|
NM_001267550.2(TTN):c.97678C>T (p.Arg32560Cys)
|
rs760762257
|
0.00006
|
|
NM_001267550.2(TTN):c.97949G>A (p.Cys32650Tyr)
|
rs535612231
|
0.00006
|
|
NM_001267550.2(TTN):c.98544C>G (p.Ser32848=)
|
rs756591209
|
0.00006
|
|
NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu)
|
rs142108986
|
0.00006
|
|
NM_001368067.1(LDB3):c.324G>A (p.Val108=)
|
rs397516556
|
0.00006
|
|
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys)
|
rs374613600
|
0.00006
|
|
NM_001368067.1(LDB3):c.787C>T (p.Arg263Cys)
|
rs377201153
|
0.00006
|
|
NM_001378030.1(CCDC78):c.1143C>T (p.Asp381=)
|
rs530313895
|
0.00006
|
|
NM_001378030.1(CCDC78):c.180+9G>A
|
rs374903815
|
0.00006
|
|
NM_001378030.1(CCDC78):c.432C>G (p.Phe144Leu)
|
rs144640928
|
0.00006
|
|
NM_001378030.1(CCDC78):c.554C>T (p.Thr185Met)
|
rs142129985
|
0.00006
|
|
NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln)
|
rs368147684
|
0.00006
|
|
NM_001378030.1(CCDC78):c.832C>T (p.Leu278=)
|
rs201042133
|
0.00006
|
|
NM_001378030.1(CCDC78):c.856C>T (p.Arg286Cys)
|
rs540243094
|
0.00006
|
|
NM_001382567.1(STIM1):c.139+6G>A
|
rs200233935
|
0.00006
|
|
NM_001382567.1(STIM1):c.1474+16dup
|
rs750124776
|
0.00006
|
|
NM_001382567.1(STIM1):c.1700A>G (p.Lys567Arg)
|
rs140122024
|
0.00006
|
|
NM_001382567.1(STIM1):c.1906C>G (p.Pro636Ala)
|
rs139432975
|
0.00006
|
|
NM_001382567.1(STIM1):c.1937G>A (p.Arg646His)
|
rs145197758
|
0.00006
|
|
NM_001458.5(FLNC):c.1200C>T (p.Ile400=)
|
rs778565971
|
0.00006
|
|
NM_001458.5(FLNC):c.1505A>T (p.Lys502Met)
|
rs780486915
|
0.00006
|
|
NM_001458.5(FLNC):c.1589A>T (p.Asp530Val)
|
rs1371853934
|
0.00006
|
|
NM_001458.5(FLNC):c.1885C>T (p.Arg629Trp)
|
rs759376455
|
0.00006
|
|
NM_001458.5(FLNC):c.2064T>G (p.Ala688=)
|
rs773444538
|
0.00006
|
|
NM_001458.5(FLNC):c.2382G>A (p.Ala794=)
|
rs536456072
|
0.00006
|
|
NM_001458.5(FLNC):c.2596G>A (p.Asp866Asn)
|
rs201006462
|
0.00006
|
|
NM_001458.5(FLNC):c.2641+18G>A
|
rs763402287
|
0.00006
|
|
NM_001458.5(FLNC):c.2994A>G (p.Gln998=)
|
rs558712725
|
0.00006
|
|
NM_001458.5(FLNC):c.3458T>G (p.Phe1153Cys)
|
rs138663492
|
0.00006
|
|
NM_001458.5(FLNC):c.352+8C>G
|
rs780084616
|
0.00006
|
|
NM_001458.5(FLNC):c.3772C>T (p.Pro1258Ser)
|
rs374764212
|
0.00006
|
|
NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu)
|
rs747587140
|
0.00006
|
|
NM_001458.5(FLNC):c.3927C>T (p.Asp1309=)
|
rs761297336
|
0.00006
|
|
NM_001458.5(FLNC):c.469C>T (p.Arg157Cys)
|
rs759739899
|
0.00006
|
|
NM_001458.5(FLNC):c.4927+15G>A
|
rs200013064
|
0.00006
|
|
NM_001458.5(FLNC):c.4991C>T (p.Thr1664Met)
|
rs780829334
|
0.00006
|
|
NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn)
|
rs777061037
|
0.00006
|
|
NM_001458.5(FLNC):c.5264C>G (p.Ala1755Gly)
|
rs1286156977
|
0.00006
|
|
NM_001458.5(FLNC):c.5277C>T (p.Pro1759=)
|
rs763698034
|
0.00006
|
|
NM_001458.5(FLNC):c.5299-16C>T
|
rs753681565
|
0.00006
|
|
NM_001458.5(FLNC):c.5397A>C (p.Thr1799=)
|
rs781322314
|
0.00006
|
|
NM_001458.5(FLNC):c.5398+6G>C
|
rs746415033
|
0.00006
|
|
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)
|
rs140857707
|
0.00006
|
|
NM_001458.5(FLNC):c.5791C>T (p.Arg1931Cys)
|
rs562155863
|
0.00006
|
|
NM_001458.5(FLNC):c.5796C>T (p.Phe1932=)
|
rs572337697
|
0.00006
|
|
NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys)
|
rs538779271
|
0.00006
|
|
NM_001458.5(FLNC):c.6005G>T (p.Gly2002Val)
|
rs747796553
|
0.00006
|
|
NM_001458.5(FLNC):c.6114C>T (p.Ile2038=)
|
rs559639511
|
0.00006
|
|
NM_001458.5(FLNC):c.6134G>A (p.Arg2045Gln)
|
rs747196571
|
0.00006
|
|
NM_001458.5(FLNC):c.642C>T (p.Pro214=)
|
rs2291558
|
0.00006
|
|
NM_001458.5(FLNC):c.651C>T (p.Asn217=)
|
rs370425863
|
0.00006
|
|
NM_001458.5(FLNC):c.6816C>T (p.Ser2272=)
|
rs375139827
|
0.00006
|
|
NM_001458.5(FLNC):c.6987C>T (p.Ala2329=)
|
rs771037016
|
0.00006
|
|
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys)
|
rs374973240
|
0.00006
|
|
NM_001458.5(FLNC):c.7366G>A (p.Val2456Ile)
|
rs770796119
|
0.00006
|
|
NM_001458.5(FLNC):c.8091T>C (p.Thr2697=)
|
rs369131204
|
0.00006
|
|
NM_001843.4(CNTN1):c.1546A>G (p.Ile516Val)
|
rs547675934
|
0.00006
|
|
NM_001843.4(CNTN1):c.1626C>T (p.Phe542=)
|
rs375356153
|
0.00006
|
|
NM_001843.4(CNTN1):c.189C>T (p.Leu63=)
|
rs761963268
|
0.00006
|
|
NM_001843.4(CNTN1):c.2106C>T (p.Asp702=)
|
rs147943881
|
0.00006
|
|
NM_001843.4(CNTN1):c.2183C>T (p.Ala728Val)
|
rs201782849
|
0.00006
|
|
NM_001843.4(CNTN1):c.2644G>A (p.Gly882Arg)
|
rs138121813
|
0.00006
|
|
NM_001843.4(CNTN1):c.2785G>A (p.Val929Ile)
|
rs148239965
|
0.00006
|
|
NM_001843.4(CNTN1):c.3031G>A (p.Gly1011Ser)
|
rs200796487
|
0.00006
|
|
NM_001843.4(CNTN1):c.3037C>T (p.Leu1013Phe)
|
rs201778720
|
0.00006
|
|
NM_001843.4(CNTN1):c.314A>G (p.Lys105Arg)
|
rs773305634
|
0.00006
|
|
NM_001843.4(CNTN1):c.652A>G (p.Ile218Val)
|
rs752293954
|
0.00006
|
|
NM_001843.4(CNTN1):c.730A>G (p.Ile244Val)
|
rs149305190
|
0.00006
|
|
NM_001843.4(CNTN1):c.804-17G>C
|
rs756134091
|
0.00006
|
|
NM_001848.3(COL6A1):c.1234G>A (p.Glu412Lys)
|
rs751779784
|
0.00006
|
|
NM_001848.3(COL6A1):c.1315C>T (p.Arg439Trp)
|
rs368239109
|
0.00006
|
|
NM_001848.3(COL6A1):c.1377C>T (p.Pro459=)
|
rs750717663
|
0.00006
|
|
NM_001848.3(COL6A1):c.1462-8C>T
|
rs199849694
|
0.00006
|
|
NM_001848.3(COL6A1):c.1553C>A (p.Thr518Asn)
|
rs201935658
|
0.00006
|
|
NM_001848.3(COL6A1):c.1557G>C (p.Glu519Asp)
|
rs755375448
|
0.00006
|
|
NM_001848.3(COL6A1):c.1611+20C>T
|
rs369940697
|
0.00006
|
|
NM_001848.3(COL6A1):c.1740+13G>T
|
rs758377899
|
0.00006
|
|
NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr)
|
rs768906709
|
0.00006
|
|
NM_001848.3(COL6A1):c.1854C>T (p.Phe618=)
|
rs372069776
|
0.00006
|
|
NM_001848.3(COL6A1):c.1855G>A (p.Val619Met)
|
rs150938324
|
0.00006
|
|
NM_001848.3(COL6A1):c.2029C>T (p.Arg677Cys)
|
rs189623561
|
0.00006
|
|
NM_001848.3(COL6A1):c.2157G>A (p.Pro719=)
|
rs377152990
|
0.00006
|
|
NM_001848.3(COL6A1):c.2165G>A (p.Arg722His)
|
rs758242849
|
0.00006
|
|
NM_001848.3(COL6A1):c.2191C>T (p.Arg731Cys)
|
rs398123635
|
0.00006
|
|
NM_001848.3(COL6A1):c.2275G>A (p.Val759Met)
|
rs373383488
|
0.00006
|
|
NM_001848.3(COL6A1):c.2348G>A (p.Arg783Gln)
|
rs200261890
|
0.00006
|
|
NM_001848.3(COL6A1):c.2355C>A (p.Gly785=)
|
rs149910296
|
0.00006
|
|
NM_001848.3(COL6A1):c.2434+19G>A
|
rs571644858
|
0.00006
|
|
NM_001848.3(COL6A1):c.2573G>A (p.Arg858His)
|
rs537763400
|
0.00006
|
|
NM_001848.3(COL6A1):c.261C>T (p.Asn87=)
|
rs770671793
|
0.00006
|
|
NM_001848.3(COL6A1):c.2653C>T (p.Arg885Cys)
|
rs746298580
|
0.00006
|
|
NM_001848.3(COL6A1):c.2745C>T (p.Asp915=)
|
rs751865624
|
0.00006
|
|
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile)
|
rs563043611
|
0.00006
|
|
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)
|
rs769795690
|
0.00006
|
|
NM_001848.3(COL6A1):c.2919C>T (p.Val973=)
|
rs764490258
|
0.00006
|
|
NM_001848.3(COL6A1):c.356C>T (p.Ala119Val)
|
rs571641824
|
0.00006
|
|
NM_001848.3(COL6A1):c.357G>A (p.Ala119=)
|
rs747037863
|
0.00006
|
|
NM_001848.3(COL6A1):c.588+19C>T
|
rs775893001
|
0.00006
|
|
NM_001848.3(COL6A1):c.595C>T (p.Arg199Cys)
|
rs749628937
|
0.00006
|
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
|
NM_001848.3(COL6A1):c.739-5C>G
|
rs369946755
|
0.00006
|
|
NM_001848.3(COL6A1):c.789C>T (p.Gly263=)
|
rs148364156
|
0.00006
|
|
NM_001848.3(COL6A1):c.795C>T (p.Pro265=)
|
rs370641081
|
0.00006
|
|
NM_001848.3(COL6A1):c.924G>C (p.Gly308=)
|
rs374654116
|
0.00006
|
|
NM_001849.4(COL6A2):c.1053+6G>A
|
rs373181368
|
0.00006
|
|
NM_001849.4(COL6A2):c.1060G>A (p.Asp354Asn)
|
rs188184732
|
0.00006
|
|
NM_001849.4(COL6A2):c.1071G>A (p.Pro357=)
|
rs746727003
|
0.00006
|
|
NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln)
|
rs368588676
|
0.00006
|
|
NM_001849.4(COL6A2):c.1348G>C (p.Glu450Gln)
|
rs757846451
|
0.00006
|
|
NM_001849.4(COL6A2):c.1606G>A (p.Glu536Lys)
|
rs143338050
|
0.00006
|
|
NM_001849.4(COL6A2):c.1671+17C>T
|
rs372188653
|
0.00006
|
|
NM_001849.4(COL6A2):c.1671+18G>A
|
rs202115968
|
0.00006
|
|
NM_001849.4(COL6A2):c.1702C>T (p.Pro568Ser)
|
rs140097446
|
0.00006
|
|
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met)
|
rs201094892
|
0.00006
|
|
NM_001849.4(COL6A2):c.1926C>G (p.Val642=)
|
rs770537140
|
0.00006
|
|
NM_001849.4(COL6A2):c.196C>T (p.Leu66=)
|
rs201055113
|
0.00006
|
|
NM_001849.4(COL6A2):c.2016G>A (p.Glu672=)
|
rs146323303
|
0.00006
|
|
NM_001849.4(COL6A2):c.2043C>T (p.Ile681=)
|
rs373514837
|
0.00006
|
|
NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys)
|
rs377376395
|
0.00006
|
|
NM_001849.4(COL6A2):c.2238G>A (p.Ala746=)
|
rs535581551
|
0.00006
|
|
NM_001849.4(COL6A2):c.2245G>A (p.Asp749Asn)
|
rs372913372
|
0.00006
|
|
NM_001849.4(COL6A2):c.2313C>T (p.Asn771=)
|
rs373731822
|
0.00006
|
|
NM_001849.4(COL6A2):c.2422+6C>T
|
rs371950486
|
0.00006
|
|
NM_001849.4(COL6A2):c.2493C>T (p.Pro831=)
|
rs771772739
|
0.00006
|
|
NM_001849.4(COL6A2):c.2523C>T (p.Ser841=)
|
rs149697707
|
0.00006
|
|
NM_001849.4(COL6A2):c.2538G>A (p.Glu846=)
|
rs144475977
|
0.00006
|
|
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=)
|
rs143749884
|
0.00006
|
|
NM_001849.4(COL6A2):c.2659G>A (p.Glu887Lys)
|
rs886043283
|
0.00006
|
|
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys)
|
rs373611722
|
0.00006
|
|
NM_001849.4(COL6A2):c.2712G>A (p.Ala904=)
|
rs139116075
|
0.00006
|
|
NM_001849.4(COL6A2):c.2754C>T (p.Gly918=)
|
rs765055618
|
0.00006
|
|
NM_001849.4(COL6A2):c.2810G>A (p.Arg937Gln)
|
rs777354703
|
0.00006
|
|
NM_001849.4(COL6A2):c.2874C>T (p.His958=)
|
rs765550338
|
0.00006
|
|
NM_001849.4(COL6A2):c.2883G>A (p.Ala961=)
|
rs369756029
|
0.00006
|
|
NM_001849.4(COL6A2):c.289G>A (p.Gly97Ser)
|
rs750027302
|
0.00006
|
|
NM_001849.4(COL6A2):c.2917G>A (p.Val973Met)
|
rs145959270
|
0.00006
|
|
NM_001849.4(COL6A2):c.2978G>A (p.Arg993His)
|
rs544436881
|
0.00006
|
|
NM_001849.4(COL6A2):c.2994C>T (p.His998=)
|
rs376362856
|
0.00006
|
|
NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr)
|
rs374011338
|
0.00006
|
|
NM_001849.4(COL6A2):c.402C>T (p.Thr134=)
|
rs201221113
|
0.00006
|
|
NM_001849.4(COL6A2):c.464A>G (p.His155Arg)
|
rs148187245
|
0.00006
|
|
NM_001849.4(COL6A2):c.525G>A (p.Leu175=)
|
rs754034094
|
0.00006
|
|
NM_001849.4(COL6A2):c.698G>A (p.Arg233His)
|
rs146742517
|
0.00006
|
|
NM_001849.4(COL6A2):c.856-14G>A
|
rs759917394
|
0.00006
|
|
NM_001927.4(DES):c.1024-7C>G
|
rs779098835
|
0.00006
|
|
NM_001927.4(DES):c.299A>C (p.Glu100Ala)
|
rs762738069
|
0.00006
|
|
NM_001927.4(DES):c.99C>T (p.Pro33=)
|
rs774006810
|
0.00006
|
|
NM_003283.6(TNNT1):c.355G>A (p.Glu119Lys)
|
rs752992299
|
0.00006
|
|
NM_003283.6(TNNT1):c.487G>A (p.Gly163Ser)
|
rs374891900
|
0.00006
|
|
NM_003283.6(TNNT1):c.791+12C>T
|
rs201143291
|
0.00006
|
|
NM_004168.4(SDHA):c.1064+4C>T
|
rs768276870
|
0.00006
|
|
NM_004168.4(SDHA):c.1064+5G>A
|
rs200021115
|
0.00006
|
|
NM_004168.4(SDHA):c.1183G>T (p.Val395Phe)
|
rs748683825
|
0.00006
|
|
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile)
|
rs377620054
|
0.00006
|
|
NM_004168.4(SDHA):c.453C>A (p.Val151=)
|
rs138917116
|
0.00006
|
|
NM_004168.4(SDHA):c.644A>G (p.Tyr215Cys)
|
rs781660628
|
0.00006
|
|
NM_004168.4(SDHA):c.994C>G (p.Pro332Ala)
|
rs373509391
|
0.00006
|
|
NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn)
|
rs140251789
|
0.00006
|
|
NM_004281.4(BAG3):c.1214C>T (p.Ala405Val)
|
rs11199064
|
0.00006
|
|
NM_004281.4(BAG3):c.1362C>T (p.Ile454=)
|
rs372417286
|
0.00006
|
|
NM_004281.4(BAG3):c.1422C>T (p.Ala474=)
|
rs727505000
|
0.00006
|
|
NM_004281.4(BAG3):c.1523A>G (p.Tyr508Cys)
|
rs747583925
|
0.00006
|
|
NM_004281.4(BAG3):c.167C>G (p.Ser56Cys)
|
rs777100532
|
0.00006
|
|
NM_004281.4(BAG3):c.180+15C>T
|
rs557837780
|
0.00006
|
|
NM_004281.4(BAG3):c.400T>A (p.Ser134Thr)
|
rs375257731
|
0.00006
|
|
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser)
|
rs746956979
|
0.00006
|
|
NM_004281.4(BAG3):c.574G>A (p.Gly192Ser)
|
rs201487919
|
0.00006
|
|
NM_004281.4(BAG3):c.693G>A (p.Thr231=)
|
rs144034433
|
0.00006
|
|
NM_004281.4(BAG3):c.785C>T (p.Ala262Val)
|
rs397516883
|
0.00006
|
|
NM_004369.4(COL6A3):c.1208C>T (p.Pro403Leu)
|
rs547651808
|
0.00006
|
|
NM_004369.4(COL6A3):c.1313-7C>T
|
rs764201905
|
0.00006
|
|
NM_004369.4(COL6A3):c.1420A>G (p.Arg474Gly)
|
rs928706699
|
0.00006
|
|
NM_004369.4(COL6A3):c.1826G>A (p.Arg609Gln)
|
rs149330325
|
0.00006
|
|
NM_004369.4(COL6A3):c.2302C>T (p.Arg768Cys)
|
rs200722892
|
0.00006
|
|
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)
|
rs753966526
|
0.00006
|
|
NM_004369.4(COL6A3):c.2523C>T (p.Leu841=)
|
rs142876356
|
0.00006
|
|
NM_004369.4(COL6A3):c.2567G>A (p.Arg856His)
|
rs147897225
|
0.00006
|
|
NM_004369.4(COL6A3):c.2643C>T (p.Ser881=)
|
rs550122375
|
0.00006
|
|
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=)
|
rs114492689
|
0.00006
|
|
NM_004369.4(COL6A3):c.3286C>T (p.Arg1096Cys)
|
rs114852262
|
0.00006
|
|
NM_004369.4(COL6A3):c.3330C>T (p.Ala1110=)
|
rs111328076
|
0.00006
|
|
NM_004369.4(COL6A3):c.3508G>A (p.Ala1170Thr)
|
rs754847515
|
0.00006
|
|
NM_004369.4(COL6A3):c.3679+17T>G
|
rs553819631
|
0.00006
|
|
NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=)
|
rs193265138
|
0.00006
|
|
NM_004369.4(COL6A3):c.3944C>T (p.Ala1315Val)
|
rs778458923
|
0.00006
|
|
NM_004369.4(COL6A3):c.4048G>A (p.Asp1350Asn)
|
rs752977410
|
0.00006
|
|
NM_004369.4(COL6A3):c.461C>T (p.Ser154Leu)
|
rs147701785
|
0.00006
|
|
NM_004369.4(COL6A3):c.4662C>T (p.Asp1554=)
|
rs764225803
|
0.00006
|
|
NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=)
|
rs147215386
|
0.00006
|
|
NM_004369.4(COL6A3):c.4894C>T (p.Arg1632Trp)
|
rs113755498
|
0.00006
|
|
NM_004369.4(COL6A3):c.4900+10G>A
|
rs189411873
|
0.00006
|
|
NM_004369.4(COL6A3):c.5470C>T (p.Leu1824Phe)
|
rs114131542
|
0.00006
|
|
NM_004369.4(COL6A3):c.550G>A (p.Ala184Thr)
|
rs767499336
|
0.00006
|
|
NM_004369.4(COL6A3):c.5635G>A (p.Gly1879Ser)
|
rs760603443
|
0.00006
|
|
NM_004369.4(COL6A3):c.5693T>C (p.Val1898Ala)
|
rs774606469
|
0.00006
|
|
NM_004369.4(COL6A3):c.5716T>C (p.Tyr1906His)
|
rs148613877
|
0.00006
|
|
NM_004369.4(COL6A3):c.5744G>A (p.Arg1915Gln)
|
rs374825188
|
0.00006
|
|
NM_004369.4(COL6A3):c.5975T>C (p.Met1992Thr)
|
rs375613015
|
0.00006
|
|
NM_004369.4(COL6A3):c.6289C>T (p.Arg2097Trp)
|
rs148252611
|
0.00006
|
|
NM_004369.4(COL6A3):c.6470C>T (p.Pro2157Leu)
|
rs372281922
|
0.00006
|
|
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg)
|
rs763348222
|
0.00006
|
|
NM_004369.4(COL6A3):c.6930+4C>T
|
rs375657891
|
0.00006
|
|
NM_004369.4(COL6A3):c.7331G>A (p.Arg2444Gln)
|
rs895701604
|
0.00006
|
|
NM_004369.4(COL6A3):c.7342G>T (p.Val2448Phe)
|
rs768564642
|
0.00006
|
|
NM_004369.4(COL6A3):c.7558A>T (p.Thr2520Ser)
|
rs144152285
|
0.00006
|
|
NM_004369.4(COL6A3):c.7590G>A (p.Val2530=)
|
rs115591088
|
0.00006
|
|
NM_004369.4(COL6A3):c.7755T>C (p.His2585=)
|
rs145581705
|
0.00006
|
|
NM_004369.4(COL6A3):c.7832C>T (p.Ala2611Val)
|
rs114806654
|
0.00006
|
|
NM_004369.4(COL6A3):c.8140G>T (p.Ala2714Ser)
|
rs748491825
|
0.00006
|
|
NM_004369.4(COL6A3):c.8627C>T (p.Pro2876Leu)
|
rs367635298
|
0.00006
|
|
NM_004369.4(COL6A3):c.8826G>A (p.Ala2942=)
|
rs751580746
|
0.00006
|
|
NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met)
|
rs116655315
|
0.00006
|
|
NM_004369.4(COL6A3):c.9508G>A (p.Gly3170Arg)
|
rs568632361
|
0.00006
|
|
NM_004370.6(COL12A1):c.1574A>T (p.Tyr525Phe)
|
rs756100330
|
0.00006
|
|
NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe)
|
rs376517147
|
0.00006
|
|
NM_004370.6(COL12A1):c.2480C>T (p.Thr827Met)
|
rs149832668
|
0.00006
|
|
NM_004370.6(COL12A1):c.2536G>A (p.Val846Ile)
|
rs368113790
|
0.00006
|
|
NM_004370.6(COL12A1):c.2658G>A (p.Leu886=)
|
rs376957850
|
0.00006
|
|
NM_004370.6(COL12A1):c.2662G>C (p.Ala888Pro)
|
rs373259425
|
0.00006
|
|
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His)
|
rs369193482
|
0.00006
|
|
NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val)
|
rs200819563
|
0.00006
|
|
NM_004370.6(COL12A1):c.3219A>G (p.Glu1073=)
|
rs201270183
|
0.00006
|
|
NM_004370.6(COL12A1):c.3279C>G (p.Leu1093=)
|
rs536622585
|
0.00006
|
|
NM_004370.6(COL12A1):c.3714T>C (p.Ile1238=)
|
rs752068052
|
0.00006
|
|
NM_004370.6(COL12A1):c.3952G>A (p.Ala1318Thr)
|
rs41269309
|
0.00006
|
|
NM_004370.6(COL12A1):c.4518A>G (p.Ser1506=)
|
rs201039857
|
0.00006
|
|
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=)
|
rs552834799
|
0.00006
|
|
NM_004370.6(COL12A1):c.525G>A (p.Glu175=)
|
rs199736979
|
0.00006
|
|
NM_004370.6(COL12A1):c.5478G>C (p.Leu1826=)
|
rs201965731
|
0.00006
|
|
NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His)
|
rs770194625
|
0.00006
|
|
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly)
|
rs757348453
|
0.00006
|
|
NM_004370.6(COL12A1):c.5763T>C (p.Asp1921=)
|
rs144223578
|
0.00006
|
|
NM_004370.6(COL12A1):c.5799G>A (p.Met1933Ile)
|
rs372482618
|
0.00006
|
|
NM_004370.6(COL12A1):c.5857C>T (p.Arg1953Cys)
|
rs777948762
|
0.00006
|
|
NM_004370.6(COL12A1):c.6073C>T (p.Arg2025Cys)
|
rs534778154
|
0.00006
|
|
NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His)
|
rs34336755
|
0.00006
|
|
NM_004370.6(COL12A1):c.62T>C (p.Ile21Thr)
|
rs576888932
|
0.00006
|
|
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn)
|
rs368397177
|
0.00006
|
|
NM_004370.6(COL12A1):c.6618T>C (p.Asn2206=)
|
rs1035643006
|
0.00006
|
|
NM_004370.6(COL12A1):c.6829C>G (p.Pro2277Ala)
|
rs758182752
|
0.00006
|
|
NM_004370.6(COL12A1):c.7215G>A (p.Lys2405=)
|
rs568748031
|
0.00006
|
|
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe)
|
rs763858637
|
0.00006
|
|
NM_004370.6(COL12A1):c.7432C>T (p.Arg2478Trp)
|
rs769219928
|
0.00006
|
|
NM_004370.6(COL12A1):c.7520-17A>G
|
rs770500462
|
0.00006
|
|
NM_004370.6(COL12A1):c.7558+16T>C
|
rs754091668
|
0.00006
|
|
NM_004370.6(COL12A1):c.7656A>G (p.Ala2552=)
|
rs763305624
|
0.00006
|
|
NM_004370.6(COL12A1):c.7698-3C>T
|
rs760246080
|
0.00006
|
|
NM_006063.3(KLHL41):c.1421A>G (p.Asp474Gly)
|
rs145810515
|
0.00006
|
|
NM_006063.3(KLHL41):c.1757G>A (p.Arg586His)
|
rs762482219
|
0.00006
|
|
NM_006063.3(KLHL41):c.175C>T (p.Arg59Cys)
|
rs547547946
|
0.00006
|
|
NM_006063.3(KLHL41):c.207G>A (p.Ala69=)
|
rs373592757
|
0.00006
|
|
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu)
|
rs78633961
|
0.00006
|
|
NM_006790.3(MYOT):c.1335C>T (p.Asn445=)
|
rs769506328
|
0.00006
|
|
NM_007078.3(LDB3):c.1231+19G>A
|
rs763969244
|
0.00006
|
|
NM_007078.3(LDB3):c.1254G>A (p.Pro418=)
|
rs145942370
|
0.00006
|
|
NM_007078.3(LDB3):c.1430A>G (p.Tyr477Cys)
|
rs529178109
|
0.00006
|
|
NM_007078.3(LDB3):c.1521C>T (p.Thr507=)
|
rs200838004
|
0.00006
|
|
NM_007078.3(LDB3):c.1697T>G (p.Met566Arg)
|
rs566463138
|
0.00006
|
|
NM_007078.3(LDB3):c.321+19G>A
|
rs147246015
|
0.00006
|
|
NM_007078.3(LDB3):c.344G>A (p.Gly115Asp)
|
rs767658173
|
0.00006
|
|
NM_007078.3(LDB3):c.533G>A (p.Arg178Gln)
|
rs143311349
|
0.00006
|
|
NM_007078.3(LDB3):c.543C>T (p.Leu181=)
|
rs148324530
|
0.00006
|
|
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg)
|
rs771099131
|
0.00006
|
|
NM_007078.3(LDB3):c.689+9C>T
|
rs727503124
|
0.00006
|
|
NM_007078.3(LDB3):c.713C>A (p.Ala238Asp)
|
rs369398522
|
0.00006
|
|
NM_017534.6(MYH2):c.1161G>A (p.Ala387=)
|
rs141134519
|
0.00006
|
|
NM_017534.6(MYH2):c.1227C>T (p.Val409=)
|
rs563146441
|
0.00006
|
|
NM_017534.6(MYH2):c.1359G>C (p.Lys453Asn)
|
rs138998538
|
0.00006
|
|
NM_017534.6(MYH2):c.2391G>T (p.Arg797Ser)
|
rs374943306
|
0.00006
|
|
NM_017534.6(MYH2):c.2442-20T>C
|
rs368701655
|
0.00006
|
|
NM_017534.6(MYH2):c.2601C>T (p.Asp867=)
|
rs142129307
|
0.00006
|
|
NM_017534.6(MYH2):c.264C>T (p.Ile88=)
|
rs138646250
|
0.00006
|
|
NM_017534.6(MYH2):c.3067G>C (p.Val1023Leu)
|
rs201925793
|
0.00006
|
|
NM_017534.6(MYH2):c.3403C>T (p.Arg1135Trp)
|
rs200134368
|
0.00006
|
|
NM_017534.6(MYH2):c.3701T>C (p.Ile1234Thr)
|
rs143809867
|
0.00006
|
|
NM_017534.6(MYH2):c.3709C>T (p.Leu1237Phe)
|
rs138265883
|
0.00006
|
|
NM_017534.6(MYH2):c.3719A>G (p.Asn1240Ser)
|
rs779830887
|
0.00006
|
|
NM_017534.6(MYH2):c.3889C>G (p.Leu1297Val)
|
rs777266089
|
0.00006
|
|
NM_017534.6(MYH2):c.4032C>T (p.His1344=)
|
rs1042074
|
0.00006
|
|
NM_017534.6(MYH2):c.4128A>G (p.Gln1376=)
|
rs369823867
|
0.00006
|
|
NM_017534.6(MYH2):c.41C>T (p.Ala14Val)
|
rs770499680
|
0.00006
|
|
NM_017534.6(MYH2):c.4213G>T (p.Ala1405Ser)
|
rs199632177
|
0.00006
|
|
NM_017534.6(MYH2):c.4221G>A (p.Glu1407=)
|
rs747573496
|
0.00006
|
|
NM_017534.6(MYH2):c.4361A>G (p.Asn1454Ser)
|
rs371923594
|
0.00006
|
|
NM_017534.6(MYH2):c.4818G>A (p.Thr1606=)
|
rs201177363
|
0.00006
|
|
NM_017534.6(MYH2):c.5041G>A (p.Glu1681Lys)
|
rs144934663
|
0.00006
|
|
NM_017534.6(MYH2):c.5378A>C (p.Glu1793Ala)
|
rs912089271
|
0.00006
|
|
NM_020451.3(SELENON):c.1078G>A (p.Gly360Ser)
|
rs761873230
|
0.00006
|
|
NM_020451.3(SELENON):c.1191G>T (p.Gln397His)
|
rs1311923186
|
0.00006
|
|
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)
|
rs121908185
|
0.00006
|
|
NM_020451.3(SELENON):c.1636A>G (p.Ile546Val)
|
rs749237378
|
0.00006
|
|
NM_020451.3(SELENON):c.465G>A (p.Thr155=)
|
rs753774853
|
0.00006
|
|
NM_020451.3(SELENON):c.501G>A (p.Pro167=)
|
rs752707301
|
0.00006
|
|
NM_020451.3(SELENON):c.717C>T (p.Arg239=)
|
rs377562721
|
0.00006
|
|
NM_020451.3(SELENON):c.732G>A (p.Pro244=)
|
rs200765195
|
0.00006
|
|
NM_020451.3(SELENON):c.909C>T (p.Asp303=)
|
rs748756250
|
0.00006
|
|
NM_032790.4(ORAI1):c.37A>T (p.Ser13Cys)
|
rs1290572755
|
0.00006
|
|
NM_032790.4(ORAI1):c.885G>A (p.Thr295=)
|
rs187222480
|
0.00006
|
|
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu)
|
rs558530329
|
0.00006
|
|
NM_139343.3(BIN1):c.1205C>T (p.Thr402Met)
|
rs747660857
|
0.00006
|
|
NM_139343.3(BIN1):c.1353C>T (p.Ala451=)
|
rs552244334
|
0.00006
|
|
NM_139343.3(BIN1):c.1359G>A (p.Pro453=)
|
rs201397427
|
0.00006
|
|
NM_139343.3(BIN1):c.1439C>T (p.Thr480Met)
|
rs780918654
|
0.00006
|
|
NM_139343.3(BIN1):c.1462-3C>T
|
rs200384643
|
0.00006
|
|
NM_139343.3(BIN1):c.1479C>T (p.Val493=)
|
rs773313892
|
0.00006
|
|
NM_139343.3(BIN1):c.327G>A (p.Leu109=)
|
rs920170949
|
0.00006
|
|
NM_139343.3(BIN1):c.791A>G (p.Asn264Ser)
|
rs766319258
|
0.00006
|
|
NM_139343.3(BIN1):c.822C>T (p.His274=)
|
rs368730077
|
0.00006
|
|
NM_139343.3(BIN1):c.915C>T (p.Ala305=)
|
rs761585447
|
0.00006
|
|
NM_145064.3(STAC3):c.636G>C (p.Glu212Asp)
|
rs201567526
|
0.00006
|
|
NM_145064.3(STAC3):c.807-12T>C
|
rs752711273
|
0.00006
|
|
NM_152263.4(TPM3):c.144G>A (p.Gln48=)
|
rs765923858
|
0.00006
|
|
NM_152263.4(TPM3):c.60G>A (p.Leu20=)
|
rs770751758
|
0.00006
|
|
NM_152393.4(KLHL40):c.108G>A (p.Val36=)
|
rs533754492
|
0.00006
|
|
NM_152393.4(KLHL40):c.1160A>G (p.His387Arg)
|
rs201336129
|
0.00006
|
|
NM_152393.4(KLHL40):c.1275C>T (p.Gly425=)
|
rs557898007
|
0.00006
|
|
NM_152393.4(KLHL40):c.1313+9G>A
|
rs368074669
|
0.00006
|
|
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser)
|
rs367579275
|
0.00006
|
|
NM_152393.4(KLHL40):c.1443C>T (p.Cys481=)
|
rs749572631
|
0.00006
|
|
NM_152393.4(KLHL40):c.1477C>G (p.Leu493Val)
|
rs375270697
|
0.00006
|
|
NM_152393.4(KLHL40):c.1621G>A (p.Glu541Lys)
|
rs142761414
|
0.00006
|
|
NM_152393.4(KLHL40):c.1754+16G>A
|
rs771808122
|
0.00006
|
|
NM_152393.4(KLHL40):c.182G>A (p.Arg61His)
|
rs778276929
|
0.00006
|
|
NM_152393.4(KLHL40):c.355A>G (p.Ile119Val)
|
rs1245898945
|
0.00006
|
|
NM_198271.5(LMOD3):c.1419G>A (p.Ser473=)
|
rs373942606
|
0.00006
|
|
NM_198271.5(LMOD3):c.1492C>A (p.Arg498=)
|
rs750486518
|
0.00006
|
|
NM_198271.5(LMOD3):c.1641C>G (p.Val547=)
|
rs369854516
|
0.00006
|
|
NM_198271.5(LMOD3):c.375T>C (p.Asn125=)
|
rs375595641
|
0.00006
|
|
NM_198271.5(LMOD3):c.438A>G (p.Glu146=)
|
rs758216222
|
0.00006
|
|
NM_198271.5(LMOD3):c.660G>C (p.Lys220Asn)
|
rs778737371
|
0.00006
|
|
NM_198859.4(PRICKLE2):c.1311C>G (p.Ala437=)
|
rs140374952
|
0.00006
|
|
NM_198859.4(PRICKLE2):c.1332G>A (p.Lys444=)
|
rs949245293
|
0.00006
|
|
NM_198859.4(PRICKLE2):c.1413C>T (p.Asp471=)
|
rs771425247
|
0.00006
|
|
NM_198859.4(PRICKLE2):c.1457T>C (p.Met486Thr)
|
rs751661338
|
0.00006
|
|
NM_198859.4(PRICKLE2):c.1639C>A (p.Leu547Met)
|
rs368904012
|
0.00006
|
|
NM_198859.4(PRICKLE2):c.2235C>T (p.Tyr745=)
|
rs532567960
|
0.00006
|
|
NM_198859.4(PRICKLE2):c.2275A>C (p.Asn759His)
|
rs565155814
|
0.00006
|
|
NM_198859.4(PRICKLE2):c.330C>T (p.Arg110=)
|
rs751122249
|
0.00006
|
|
NM_198859.4(PRICKLE2):c.638G>A (p.Arg213Gln)
|
rs775154480
|
0.00006
|
|
NM_000036.3(AMPD1):c.1111C>A (p.Arg371Ser)
|
rs143303551
|
0.00005
|
|
NM_000036.3(AMPD1):c.990G>T (p.Val330=)
|
rs754808704
|
0.00005
|
|
NM_000116.5(TAFAZZIN):c.110-6C>T
|
rs782099193
|
0.00005
|
|
NM_000182.5(HADHA):c.1752C>T (p.Ala584=)
|
rs761749332
|
0.00005
|
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
|
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys)
|
rs777153382
|
0.00005
|
|
NM_000182.5(HADHA):c.2106C>T (p.Ile702=)
|
rs267599302
|
0.00005
|
|
NM_000182.5(HADHA):c.764A>G (p.Lys255Arg)
|
rs754673524
|
0.00005
|
|
NM_000183.3(HADHB):c.1000A>C (p.Lys334Gln)
|
rs774054520
|
0.00005
|
|
NM_000183.3(HADHB):c.1389+4C>T
|
rs192854755
|
0.00005
|
|
NM_000183.3(HADHB):c.1390-5T>C
|
rs372429293
|
0.00005
|
|
NM_000183.3(HADHB):c.182G>A (p.Arg61His)
|
rs121913132
|
0.00005
|
|
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser)
|
rs587783785
|
0.00005
|
|
NM_000252.3(MTM1):c.1793A>G (p.His598Arg)
|
rs201373390
|
0.00005
|
|
NM_000252.3(MTM1):c.232-7A>G
|
rs373045797
|
0.00005
|
|
NM_000252.3(MTM1):c.285A>G (p.Lys95=)
|
rs1292849674
|
0.00005
|
|
NM_000252.3(MTM1):c.38C>T (p.Ser13Phe)
|
rs144473998
|
0.00005
|
|
NM_000252.3(MTM1):c.546T>C (p.His182=)
|
rs782217349
|
0.00005
|
|
NM_000252.3(MTM1):c.620G>A (p.Arg207His)
|
rs187357952
|
0.00005
|
|
NM_000252.3(MTM1):c.755A>G (p.Lys252Arg)
|
rs782740989
|
0.00005
|
|
NM_001100.4(ACTA1):c.436del (p.Ala146fs)
|
rs1395648272
|
0.00005
|
|
NM_001100.4(ACTA1):c.462G>T (p.Val154=)
|
rs746374077
|
0.00005
|
|
NM_001101362.3(KBTBD13):c.1061A>G (p.Tyr354Cys)
|
rs778125325
|
0.00005
|
|
NM_001101362.3(KBTBD13):c.1333C>T (p.Pro445Ser)
|
rs778885479
|
0.00005
|
|
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro)
|
rs767384093
|
0.00005
|
|
NM_001101362.3(KBTBD13):c.812C>T (p.Pro271Leu)
|
rs944158562
|
0.00005
|
|
NM_001101362.3(KBTBD13):c.85T>C (p.Cys29Arg)
|
rs1332816332
|
0.00005
|
|
NM_001101362.3(KBTBD13):c.947A>C (p.Asp316Ala)
|
rs1021462149
|
0.00005
|
|
NM_001164508.2(NEB):c.10075G>A (p.Glu3359Lys)
|
rs374359052
|
0.00005
|
|
NM_001164508.2(NEB):c.10140C>T (p.Ser3380=)
|
rs199870629
|
0.00005
|
|
NM_001164508.2(NEB):c.10463G>A (p.Arg3488His)
|
rs371605774
|
0.00005
|
|
NM_001164508.2(NEB):c.10589A>T (p.Gln3530Leu)
|
rs573693040
|
0.00005
|
|
NM_001164508.2(NEB):c.10653C>T (p.His3551=)
|
rs369508429
|
0.00005
|
|
NM_001164508.2(NEB):c.10675C>T (p.Arg3559Cys)
|
rs751938843
|
0.00005
|
|
NM_001164508.2(NEB):c.10988G>A (p.Arg3663His)
|
rs550715282
|
0.00005
|
|
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=)
|
rs199789085
|
0.00005
|
|
NM_001164508.2(NEB):c.11182-8T>A
|
rs183088493
|
0.00005
|
|
NM_001164508.2(NEB):c.11341C>T (p.Arg3781Trp)
|
rs533027587
|
0.00005
|
|
NM_001164508.2(NEB):c.11612A>G (p.Lys3871Arg)
|
rs761955993
|
0.00005
|
|
NM_001164508.2(NEB):c.11712G>A (p.Lys3904=)
|
rs767231395
|
0.00005
|
|
NM_001164508.2(NEB):c.12596C>T (p.Pro4199Leu)
|
rs1365594299
|
0.00005
|
|
NM_001164508.2(NEB):c.12769C>T (p.Arg4257Cys)
|
rs1376744526
|
0.00005
|
|
NM_001164508.2(NEB):c.1296A>T (p.Gly432=)
|
rs751665091
|
0.00005
|
|
NM_001164508.2(NEB):c.13044C>T (p.Tyr4348=)
|
rs1167279039
|
0.00005
|
|
NM_001164508.2(NEB):c.13059+4C>T
|
rs1253831275
|
0.00005
|
|
NM_001164508.2(NEB):c.1675-4C>G
|
rs369915027
|
0.00005
|
|
NM_001164508.2(NEB):c.17024G>A (p.Arg5675His)
|
rs373850451
|
0.00005
|
|
NM_001164508.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle)
|
rs765184893
|
0.00005
|
|
NM_001164508.2(NEB):c.17832C>T (p.Asp5944=)
|
rs544453966
|
0.00005
|
|
NM_001164508.2(NEB):c.17900C>T (p.Thr5967Met)
|
rs778982089
|
0.00005
|
|
NM_001164508.2(NEB):c.18381A>G (p.Glu6127=)
|
rs1055886459
|
0.00005
|
|
NM_001164508.2(NEB):c.18694-3T>C
|
rs370200484
|
0.00005
|
|
NM_001164508.2(NEB):c.19315-4A>G
|
rs778306769
|
0.00005
|
|
NM_001164508.2(NEB):c.19899C>T (p.Thr6633=)
|
rs370742146
|
0.00005
|
|
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala)
|
rs371704528
|
0.00005
|
|
NM_001164508.2(NEB):c.22131C>G (p.His7377Gln)
|
rs777069125
|
0.00005
|
|
NM_001164508.2(NEB):c.22428C>T (p.Leu7476=)
|
rs371431256
|
0.00005
|
|
NM_001164508.2(NEB):c.2249C>T (p.Thr750Met)
|
rs757505325
|
0.00005
|
|
NM_001164508.2(NEB):c.23346+13G>A
|
rs564325749
|
0.00005
|
|
NM_001164508.2(NEB):c.23510C>T (p.Thr7837Met)
|
rs370108917
|
0.00005
|
|
NM_001164508.2(NEB):c.23555C>T (p.Ser7852Leu)
|
rs200454939
|
0.00005
|
|
NM_001164508.2(NEB):c.23742+9C>T
|
rs762973833
|
0.00005
|
|
NM_001164508.2(NEB):c.24044G>A (p.Gly8015Glu)
|
rs772083580
|
0.00005
|
|
NM_001164508.2(NEB):c.24820T>C (p.Leu8274=)
|
rs372203426
|
0.00005
|
|
NM_001164508.2(NEB):c.252C>T (p.Pro84=)
|
rs201735545
|
0.00005
|
|
NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr)
|
rs753428817
|
0.00005
|
|
NM_001164508.2(NEB):c.2687C>T (p.Pro896Leu)
|
rs746502484
|
0.00005
|
|
NM_001164508.2(NEB):c.2739C>T (p.Ser913=)
|
rs185674525
|
0.00005
|
|
NM_001164508.2(NEB):c.2819A>G (p.Tyr940Cys)
|
rs369875205
|
0.00005
|
|
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile)
|
rs201541240
|
0.00005
|
|
NM_001164508.2(NEB):c.4481A>G (p.Gln1494Arg)
|
rs769642582
|
0.00005
|
|
NM_001164508.2(NEB):c.4612G>C (p.Ala1538Pro)
|
rs781263453
|
0.00005
|
|
NM_001164508.2(NEB):c.4748C>T (p.Ala1583Val)
|
rs761956085
|
0.00005
|
|
NM_001164508.2(NEB):c.5031+7A>T
|
rs767637405
|
0.00005
|
|
NM_001164508.2(NEB):c.5032-9A>G
|
rs1274542788
|
0.00005
|
|
NM_001164508.2(NEB):c.6488A>G (p.Gln2163Arg)
|
rs200813844
|
0.00005
|
|
NM_001164508.2(NEB):c.6614G>A (p.Arg2205His)
|
rs752349680
|
0.00005
|
|
NM_001164508.2(NEB):c.7185C>T (p.Asn2395=)
|
rs775336786
|
0.00005
|
|
NM_001164508.2(NEB):c.7246C>G (p.Leu2416Val)
|
rs747337656
|
0.00005
|
|
NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn)
|
rs781745506
|
0.00005
|
|
NM_001164508.2(NEB):c.8625A>G (p.Thr2875=)
|
rs200386897
|
0.00005
|
|
NM_001164508.2(NEB):c.863A>G (p.Lys288Arg)
|
rs202035863
|
0.00005
|
|
NM_001164508.2(NEB):c.9388C>T (p.Arg3130Trp)
|
rs779778326
|
0.00005
|
|
NM_001164508.2(NEB):c.9768C>T (p.Tyr3256=)
|
rs747458739
|
0.00005
|
|
NM_001256545.2(MEGF10):c.1080C>T (p.Tyr360=)
|
rs751813170
|
0.00005
|
|
NM_001256545.2(MEGF10):c.1427-7C>T
|
rs750999561
|
0.00005
|
|
NM_001256545.2(MEGF10):c.1840+20G>A
|
rs375740678
|
0.00005
|
|
NM_001256545.2(MEGF10):c.2330G>A (p.Arg777His)
|
rs565304206
|
0.00005
|
|
NM_001256545.2(MEGF10):c.2694T>C (p.Ala898=)
|
rs765132454
|
0.00005
|
|
NM_001256545.2(MEGF10):c.3180A>G (p.Pro1060=)
|
rs144450528
|
0.00005
|
|
NM_001256545.2(MEGF10):c.3277C>T (p.Arg1093Cys)
|
rs758348725
|
0.00005
|
|
NM_001256545.2(MEGF10):c.522G>A (p.Arg174=)
|
rs201076330
|
0.00005
|
|
NM_001256545.2(MEGF10):c.916C>T (p.Arg306Trp)
|
rs371078929
|
0.00005
|
|
NM_001256545.2(MEGF10):c.917G>A (p.Arg306Gln)
|
rs986353158
|
0.00005
|
|
NM_001267550.2(TTN):c.100257T>C (p.Asp33419=)
|
rs727505046
|
0.00005
|
|
NM_001267550.2(TTN):c.100281C>T (p.Tyr33427=)
|
rs373085562
|
0.00005
|
|
NM_001267550.2(TTN):c.101213G>A (p.Arg33738His)
|
rs192391568
|
0.00005
|
|
NM_001267550.2(TTN):c.101251A>C (p.Asn33751His)
|
rs753658469
|
0.00005
|
|
NM_001267550.2(TTN):c.101439G>A (p.Lys33813=)
|
rs72629781
|
0.00005
|
|
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser)
|
rs766439271
|
0.00005
|
|
NM_001267550.2(TTN):c.102173G>A (p.Arg34058Lys)
|
rs886039007
|
0.00005
|
|
NM_001267550.2(TTN):c.102424A>C (p.Ile34142Leu)
|
rs528796532
|
0.00005
|
|
NM_001267550.2(TTN):c.102451G>C (p.Gly34151Arg)
|
rs191522469
|
0.00005
|
|
NM_001267550.2(TTN):c.103215C>T (p.Leu34405=)
|
rs748516187
|
0.00005
|
|
NM_001267550.2(TTN):c.103786C>T (p.Arg34596Cys)
|
rs372754970
|
0.00005
|
|
NM_001267550.2(TTN):c.105085T>C (p.Leu35029=)
|
rs374678473
|
0.00005
|
|
NM_001267550.2(TTN):c.105521G>A (p.Arg35174His)
|
rs756575734
|
0.00005
|
|
NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala)
|
rs373369136
|
0.00005
|
|
NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro)
|
rs774004409
|
0.00005
|
|
NM_001267550.2(TTN):c.106585A>C (p.Thr35529Pro)
|
rs372116188
|
0.00005
|
|
NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val)
|
rs769369764
|
0.00005
|
|
NM_001267550.2(TTN):c.11362G>A (p.Glu3788Lys)
|
rs540469851
|
0.00005
|
|
NM_001267550.2(TTN):c.11811T>C (p.Pro3937=)
|
rs571602215
|
0.00005
|
|
NM_001267550.2(TTN):c.11855G>A (p.Gly3952Glu)
|
rs779033634
|
0.00005
|
|
NM_001267550.2(TTN):c.12498T>C (p.Ile4166=)
|
rs756194386
|
0.00005
|
|
NM_001267550.2(TTN):c.14662C>G (p.Pro4888Ala)
|
rs376799249
|
0.00005
|
|
NM_001267550.2(TTN):c.14935+9C>T
|
rs544241749
|
0.00005
|
|
NM_001267550.2(TTN):c.15453T>C (p.Asn5151=)
|
rs201343844
|
0.00005
|
|
NM_001267550.2(TTN):c.15900C>G (p.Pro5300=)
|
rs377577863
|
0.00005
|
|
NM_001267550.2(TTN):c.16302C>T (p.Ser5434=)
|
rs370615208
|
0.00005
|
|
NM_001267550.2(TTN):c.16550C>T (p.Ser5517Leu)
|
rs769165258
|
0.00005
|
|
NM_001267550.2(TTN):c.16622-9C>T
|
rs752362183
|
0.00005
|
|
NM_001267550.2(TTN):c.1800+1G>A
|
rs397517497
|
0.00005
|
|
NM_001267550.2(TTN):c.1830A>G (p.Val610=)
|
rs371660109
|
0.00005
|
|
NM_001267550.2(TTN):c.18432T>C (p.Asn6144=)
|
rs749504085
|
0.00005
|
|
NM_001267550.2(TTN):c.18684T>C (p.Phe6228=)
|
rs368427156
|
0.00005
|
|
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp)
|
rs150231219
|
0.00005
|
|
NM_001267550.2(TTN):c.19152A>G (p.Pro6384=)
|
rs956813031
|
0.00005
|
|
NM_001267550.2(TTN):c.19962C>T (p.Ser6654=)
|
rs765887722
|
0.00005
|
|
NM_001267550.2(TTN):c.20354C>T (p.Ser6785Leu)
|
rs201586695
|
0.00005
|
|
NM_001267550.2(TTN):c.20601C>T (p.Ala6867=)
|
rs374731328
|
0.00005
|
|
NM_001267550.2(TTN):c.20837-13C>T
|
rs375396510
|
0.00005
|
|
NM_001267550.2(TTN):c.208G>A (p.Val70Met)
|
rs772248060
|
0.00005
|
|
NM_001267550.2(TTN):c.22209T>G (p.Thr7403=)
|
rs762942216
|
0.00005
|
|
NM_001267550.2(TTN):c.2274C>T (p.His758=)
|
rs772664968
|
0.00005
|
|
NM_001267550.2(TTN):c.2280C>T (p.Val760=)
|
rs727505021
|
0.00005
|
|
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn)
|
rs727505052
|
0.00005
|
|
NM_001267550.2(TTN):c.23616C>T (p.Asn7872=)
|
rs181206334
|
0.00005
|
|
NM_001267550.2(TTN):c.23659+20C>G
|
rs367673630
|
0.00005
|
|
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)
|
rs199576800
|
0.00005
|
|
NM_001267550.2(TTN):c.24358C>T (p.Pro8120Ser)
|
rs745913661
|
0.00005
|
|
NM_001267550.2(TTN):c.26133G>A (p.Gly8711=)
|
rs776892690
|
0.00005
|
|
NM_001267550.2(TTN):c.26201-5A>T
|
rs748787500
|
0.00005
|
|
NM_001267550.2(TTN):c.26619C>A (p.Asp8873Glu)
|
rs772596633
|
0.00005
|
|
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys)
|
rs371156190
|
0.00005
|
|
NM_001267550.2(TTN):c.28205G>A (p.Arg9402His)
|
rs773986121
|
0.00005
|
|
NM_001267550.2(TTN):c.28269A>G (p.Thr9423=)
|
rs550056960
|
0.00005
|
|
NM_001267550.2(TTN):c.28466G>A (p.Arg9489Gln)
|
rs189431308
|
0.00005
|
|
NM_001267550.2(TTN):c.28819G>A (p.Val9607Met)
|
rs375807609
|
0.00005
|
|
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=)
|
rs370903846
|
0.00005
|
|
NM_001267550.2(TTN):c.3030C>T (p.Ser1010=)
|
rs374346637
|
0.00005
|
|
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln)
|
rs368885310
|
0.00005
|
|
NM_001267550.2(TTN):c.30682+13A>G
|
rs767280574
|
0.00005
|
|
NM_001267550.2(TTN):c.30717A>C (p.Lys10239Asn)
|
rs553520141
|
0.00005
|
|
NM_001267550.2(TTN):c.31227T>G (p.Val10409=)
|
rs748539440
|
0.00005
|
|
NM_001267550.2(TTN):c.31762G>A (p.Val10588Ile)
|
rs372371333
|
0.00005
|
|
NM_001267550.2(TTN):c.31847-12T>C
|
rs371372951
|
0.00005
|
|
NM_001267550.2(TTN):c.32555-2A>C
|
rs781581062
|
0.00005
|
|
NM_001267550.2(TTN):c.33049G>A (p.Glu11017Lys)
|
rs753930002
|
0.00005
|
|
NM_001267550.2(TTN):c.33340+18C>T
|
rs761691686
|
0.00005
|
|
NM_001267550.2(TTN):c.3380+9A>G
|
rs770149480
|
0.00005
|
|
NM_001267550.2(TTN):c.34260A>G (p.Glu11420=)
|
rs374616513
|
0.00005
|
|
NM_001267550.2(TTN):c.34380G>A (p.Val11460=)
|
rs927151283
|
0.00005
|
|
NM_001267550.2(TTN):c.36254A>G (p.Gln12085Arg)
|
rs183220684
|
0.00005
|
|
NM_001267550.2(TTN):c.36310G>T (p.Glu12104Ter)
|
rs1455879402
|
0.00005
|
|
NM_001267550.2(TTN):c.36552A>G (p.Glu12184=)
|
rs375396058
|
0.00005
|
|
NM_001267550.2(TTN):c.3798A>C (p.Thr1266=)
|
rs527497634
|
0.00005
|
|
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu)
|
rs72650062
|
0.00005
|
|
NM_001267550.2(TTN):c.39296-18G>T
|
rs748134833
|
0.00005
|
|
NM_001267550.2(TTN):c.39427G>A (p.Val13143Ile)
|
rs375956503
|
0.00005
|
|
NM_001267550.2(TTN):c.39626-4A>G
|
rs559564145
|
0.00005
|
|
NM_001267550.2(TTN):c.39941C>A (p.Thr13314Asn)
|
rs543338451
|
0.00005
|
|
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr)
|
rs140760859
|
0.00005
|
|
NM_001267550.2(TTN):c.415C>T (p.Arg139Trp)
|
rs752970602
|
0.00005
|
|
NM_001267550.2(TTN):c.42023C>T (p.Pro14008Leu)
|
rs751709914
|
0.00005
|
|
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=)
|
rs765214404
|
0.00005
|
|
NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys)
|
rs146241078
|
0.00005
|
|
NM_001267550.2(TTN):c.43355G>T (p.Arg14452Ile)
|
rs528741819
|
0.00005
|
|
NM_001267550.2(TTN):c.44078G>A (p.Arg14693His)
|
rs746380621
|
0.00005
|
|
NM_001267550.2(TTN):c.44229G>A (p.Gly14743=)
|
rs376445406
|
0.00005
|
|
NM_001267550.2(TTN):c.44281+16T>G
|
rs375646734
|
0.00005
|
|
NM_001267550.2(TTN):c.44542G>A (p.Val14848Met)
|
rs759373140
|
0.00005
|
|
NM_001267550.2(TTN):c.44793T>C (p.Thr14931=)
|
rs371321664
|
0.00005
|
|
NM_001267550.2(TTN):c.44900G>A (p.Arg14967Gln)
|
rs752671402
|
0.00005
|
|
NM_001267550.2(TTN):c.45594A>T (p.Ala15198=)
|
rs368632402
|
0.00005
|
|
NM_001267550.2(TTN):c.45994C>T (p.Leu15332=)
|
rs765663809
|
0.00005
|
|
NM_001267550.2(TTN):c.46884G>A (p.Lys15628=)
|
rs760251812
|
0.00005
|
|
NM_001267550.2(TTN):c.46967-19C>G
|
rs755875136
|
0.00005
|
|
NM_001267550.2(TTN):c.47196G>C (p.Val15732=)
|
rs369979598
|
0.00005
|
|
NM_001267550.2(TTN):c.48576T>A (p.Val16192=)
|
rs756895677
|
0.00005
|
|
NM_001267550.2(TTN):c.49049-6A>T
|
rs1012199109
|
0.00005
|
|
NM_001267550.2(TTN):c.49465A>C (p.Arg16489=)
|
rs748959693
|
0.00005
|
|
NM_001267550.2(TTN):c.49649-11T>C
|
rs727504474
|
0.00005
|
|
NM_001267550.2(TTN):c.49704A>G (p.Val16568=)
|
rs565691537
|
0.00005
|
|
NM_001267550.2(TTN):c.4990C>T (p.Arg1664Trp)
|
rs147695336
|
0.00005
|
|
NM_001267550.2(TTN):c.4998A>T (p.Thr1666=)
|
rs139054950
|
0.00005
|
|
NM_001267550.2(TTN):c.50083C>A (p.Arg16695=)
|
rs751502842
|
0.00005
|
|
NM_001267550.2(TTN):c.50308C>T (p.Leu16770=)
|
rs370782852
|
0.00005
|
|
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=)
|
rs374672630
|
0.00005
|
|
NM_001267550.2(TTN):c.51739+14C>A
|
rs727505018
|
0.00005
|
|
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln)
|
rs376932266
|
0.00005
|
|
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)
|
rs190574498
|
0.00005
|
|
NM_001267550.2(TTN):c.54581G>A (p.Gly18194Asp)
|
rs201802447
|
0.00005
|
|
NM_001267550.2(TTN):c.54811+10C>T
|
rs796651993
|
0.00005
|
|
NM_001267550.2(TTN):c.54999A>T (p.Glu18333Asp)
|
rs764950995
|
0.00005
|
|
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=)
|
rs755839294
|
0.00005
|
|
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His)
|
rs771284532
|
0.00005
|
|
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=)
|
rs529480368
|
0.00005
|
|
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=)
|
rs370619063
|
0.00005
|
|
NM_001267550.2(TTN):c.57593A>G (p.Asn19198Ser)
|
rs199787097
|
0.00005
|
|
NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr)
|
rs199933004
|
0.00005
|
|
NM_001267550.2(TTN):c.59074A>G (p.Thr19692Ala)
|
rs771977738
|
0.00005
|
|
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly)
|
rs755949982
|
0.00005
|
|
NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val)
|
rs1187337182
|
0.00005
|
|
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)
|
rs727503588
|
0.00005
|
|
NM_001267550.2(TTN):c.60140G>A (p.Arg20047Lys)
|
rs371060708
|
0.00005
|
|
NM_001267550.2(TTN):c.60221-19T>C
|
rs533551256
|
0.00005
|
|
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)
|
rs373062007
|
0.00005
|
|
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)
|
rs527704660
|
0.00005
|
|
NM_001267550.2(TTN):c.61916A>G (p.Tyr20639Cys)
|
rs756303390
|
0.00005
|
|
NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys)
|
rs376455983
|
0.00005
|
|
NM_001267550.2(TTN):c.64672+16G>C
|
rs779727335
|
0.00005
|
|
NM_001267550.2(TTN):c.66527C>T (p.Ser22176Phe)
|
rs779303152
|
0.00005
|
|
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn)
|
rs727503577
|
0.00005
|
|
NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly)
|
rs201223583
|
0.00005
|
|
NM_001267550.2(TTN):c.67637-4A>G
|
rs376053678
|
0.00005
|
|
NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu)
|
rs534340303
|
0.00005
|
|
NM_001267550.2(TTN):c.69376G>C (p.Val23126Leu)
|
rs756671149
|
0.00005
|
|
NM_001267550.2(TTN):c.69492G>A (p.Val23164=)
|
rs751921225
|
0.00005
|
|
NM_001267550.2(TTN):c.69716-10T>C
|
rs371495009
|
0.00005
|
|
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)
|
rs367914610
|
0.00005
|
|
NM_001267550.2(TTN):c.71058G>A (p.Ala23686=)
|
rs375183437
|
0.00005
|
|
NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln)
|
rs369292052
|
0.00005
|
|
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met)
|
rs370375696
|
0.00005
|
|
NM_001267550.2(TTN):c.72288T>C (p.Asp24096=)
|
rs769898611
|
0.00005
|
|
NM_001267550.2(TTN):c.72552C>T (p.Val24184=)
|
rs727504187
|
0.00005
|
|
NM_001267550.2(TTN):c.73905C>T (p.Leu24635=)
|
rs754045020
|
0.00005
|
|
NM_001267550.2(TTN):c.73914G>A (p.Glu24638=)
|
rs376382707
|
0.00005
|
|
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp)
|
rs372787601
|
0.00005
|
|
NM_001267550.2(TTN):c.77907C>T (p.Asn25969=)
|
rs375903820
|
0.00005
|
|
NM_001267550.2(TTN):c.78431T>C (p.Ile26144Thr)
|
rs183015944
|
0.00005
|
|
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His)
|
rs371615296
|
0.00005
|
|
NM_001267550.2(TTN):c.81647G>A (p.Arg27216His)
|
rs371910831
|
0.00005
|
|
NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn)
|
rs554231442
|
0.00005
|
|
NM_001267550.2(TTN):c.82905G>A (p.Lys27635=)
|
rs1348185820
|
0.00005
|
|
NM_001267550.2(TTN):c.83115C>T (p.Pro27705=)
|
rs747021593
|
0.00005
|
|
NM_001267550.2(TTN):c.8312T>C (p.Ile2771Thr)
|
rs780465670
|
0.00005
|
|
NM_001267550.2(TTN):c.83317T>C (p.Leu27773=)
|
rs376683928
|
0.00005
|
|
NM_001267550.2(TTN):c.83630G>A (p.Arg27877His)
|
rs371345921
|
0.00005
|
|
NM_001267550.2(TTN):c.84072A>C (p.Glu28024Asp)
|
rs377540780
|
0.00005
|
|
NM_001267550.2(TTN):c.84848A>G (p.Lys28283Arg)
|
rs545841306
|
0.00005
|
|
NM_001267550.2(TTN):c.84964C>T (p.Arg28322Cys)
|
rs774978209
|
0.00005
|
|
NM_001267550.2(TTN):c.86821+2T>A
|
rs397517735
|
0.00005
|
|
NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr)
|
rs774191975
|
0.00005
|
|
NM_001267550.2(TTN):c.87010G>A (p.Gly29004Ser)
|
rs761251825
|
0.00005
|
|
NM_001267550.2(TTN):c.87449T>C (p.Ile29150Thr)
|
rs373106927
|
0.00005
|
|
NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile)
|
rs56373393
|
0.00005
|
|
NM_001267550.2(TTN):c.88106G>T (p.Gly29369Val)
|
rs55898359
|
0.00005
|
|
NM_001267550.2(TTN):c.88281G>A (p.Gly29427=)
|
rs775458117
|
0.00005
|
|
NM_001267550.2(TTN):c.89500C>A (p.Leu29834Ile)
|
rs761591533
|
0.00005
|
|
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His)
|
rs397517744
|
0.00005
|
|
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp)
|
rs747181293
|
0.00005
|
|
NM_001267550.2(TTN):c.899C>A (p.Thr300Asn)
|
rs376737897
|
0.00005
|
|
NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro)
|
rs568322187
|
0.00005
|
|
NM_001267550.2(TTN):c.9164-9A>G
|
rs370434818
|
0.00005
|
|
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)
|
rs397517755
|
0.00005
|
|
NM_001267550.2(TTN):c.93708C>T (p.Asp31236=)
|
rs560835240
|
0.00005
|
|
NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr)
|
rs555405542
|
0.00005
|
|
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser)
|
rs886042885
|
0.00005
|
|
NM_001267550.2(TTN):c.94710C>T (p.Thr31570=)
|
rs375185958
|
0.00005
|
|
NM_001267550.2(TTN):c.9509T>C (p.Val3170Ala)
|
rs779339626
|
0.00005
|
|
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=)
|
rs727504857
|
0.00005
|
|
NM_001267550.2(TTN):c.9519C>T (p.Asp3173=)
|
rs151129843
|
0.00005
|
|
NM_001267550.2(TTN):c.95541T>G (p.Arg31847=)
|
rs749477738
|
0.00005
|
|
NM_001267550.2(TTN):c.95716C>G (p.Pro31906Ala)
|
rs755949122
|
0.00005
|
|
NM_001267550.2(TTN):c.96182T>C (p.Ile32061Thr)
|
rs376202976
|
0.00005
|
|
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr)
|
rs376039623
|
0.00005
|
|
NM_001267550.2(TTN):c.97193-20G>A
|
rs780343645
|
0.00005
|
|
NM_001267550.2(TTN):c.97378A>G (p.Lys32460Glu)
|
rs965156924
|
0.00005
|
|
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg)
|
rs147903846
|
0.00005
|
|
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)
|
rs727503538
|
0.00005
|
|
NM_001267550.2(TTN):c.99039T>C (p.Asp33013=)
|
rs1037997977
|
0.00005
|
|
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln)
|
rs371531675
|
0.00005
|
|
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr)
|
rs200458194
|
0.00005
|
|
NM_001368067.1(LDB3):c.369C>T (p.Asn123=)
|
rs751576160
|
0.00005
|
|
NM_001368067.1(LDB3):c.370C>A (p.Pro124Thr)
|
rs755513516
|
0.00005
|
|
NM_001378030.1(CCDC78):c.1276G>A (p.Glu426Lys)
|
rs374749282
|
0.00005
|
|
NM_001378030.1(CCDC78):c.612C>T (p.Ala204=)
|
rs765213341
|
0.00005
|
|
NM_001378030.1(CCDC78):c.683A>C (p.Glu228Ala)
|
rs749951287
|
0.00005
|
|
NM_001378030.1(CCDC78):c.711G>C (p.Lys237Asn)
|
rs143439721
|
0.00005
|
|
NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile)
|
rs752077571
|
0.00005
|
|
NM_001382567.1(STIM1):c.1394G>A (p.Arg465His)
|
rs375914426
|
0.00005
|
|
NM_001382567.1(STIM1):c.1681C>T (p.Arg561Cys)
|
rs142239530
|
0.00005
|
|
NM_001382567.1(STIM1):c.1765C>T (p.Arg589Trp)
|
rs747547917
|
0.00005
|
|
NM_001382567.1(STIM1):c.872A>G (p.Asn291Ser)
|
rs138848040
|
0.00005
|
|
NM_001458.5(FLNC):c.1210+8G>A
|
rs368892134
|
0.00005
|
|
NM_001458.5(FLNC):c.1211-6C>T
|
rs745834917
|
0.00005
|
|
NM_001458.5(FLNC):c.15C>A (p.Ser5Arg)
|
rs759632330
|
0.00005
|
|
NM_001458.5(FLNC):c.1851A>G (p.Glu617=)
|
rs199715890
|
0.00005
|
|
NM_001458.5(FLNC):c.2041G>A (p.Gly681Ser)
|
rs199705417
|
0.00005
|
|
NM_001458.5(FLNC):c.2272G>A (p.Val758Met)
|
rs371418145
|
0.00005
|
|
NM_001458.5(FLNC):c.22T>C (p.Ser8Pro)
|
rs544875797
|
0.00005
|
|
NM_001458.5(FLNC):c.2394C>T (p.Asp798=)
|
rs747802743
|
0.00005
|
|
NM_001458.5(FLNC):c.2425G>A (p.Val809Met)
|
rs775770671
|
0.00005
|
|
NM_001458.5(FLNC):c.2490C>T (p.Thr830=)
|
rs777580254
|
0.00005
|
|
NM_001458.5(FLNC):c.2888C>T (p.Pro963Leu)
|
rs963838554
|
0.00005
|
|
NM_001458.5(FLNC):c.3138G>A (p.Pro1046=)
|
rs369739262
|
0.00005
|
|
NM_001458.5(FLNC):c.3209C>T (p.Pro1070Leu)
|
rs370391049
|
0.00005
|
|
NM_001458.5(FLNC):c.3240C>T (p.Pro1080=)
|
rs570290798
|
0.00005
|
|
NM_001458.5(FLNC):c.3426C>T (p.Gly1142=)
|
rs201313781
|
0.00005
|
|
NM_001458.5(FLNC):c.3502G>A (p.Gly1168Ser)
|
rs199814952
|
0.00005
|
|
NM_001458.5(FLNC):c.3790+7G>A
|
rs534439574
|
0.00005
|
|
NM_001458.5(FLNC):c.3790G>A (p.Gly1264Ser)
|
rs201335143
|
0.00005
|
|
NM_001458.5(FLNC):c.4054C>T (p.Arg1352Cys)
|
rs367931139
|
0.00005
|
|
NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe)
|
rs768635501
|
0.00005
|
|
NM_001458.5(FLNC):c.4222G>A (p.Glu1408Lys)
|
rs965589915
|
0.00005
|
|
NM_001458.5(FLNC):c.4254C>T (p.Asp1418=)
|
rs773306584
|
0.00005
|
|
NM_001458.5(FLNC):c.4627C>T (p.Arg1543Trp)
|
rs745648230
|
0.00005
|
|
NM_001458.5(FLNC):c.462G>A (p.Glu154=)
|
rs753730559
|
0.00005
|
|
NM_001458.5(FLNC):c.517G>T (p.Val173Leu)
|
rs376235207
|
0.00005
|
|
NM_001458.5(FLNC):c.5285G>A (p.Arg1762His)
|
rs779856224
|
0.00005
|
|
NM_001458.5(FLNC):c.5298+13C>G
|
rs1184909389
|
0.00005
|
|
NM_001458.5(FLNC):c.5431C>T (p.Arg1811Trp)
|
rs374794518
|
0.00005
|
|
NM_001458.5(FLNC):c.5842+7C>T
|
rs370905549
|
0.00005
|
|
NM_001458.5(FLNC):c.6052C>T (p.Arg2018Cys)
|
rs1335627502
|
0.00005
|
|
NM_001458.5(FLNC):c.6312G>A (p.Glu2104=)
|
rs979412217
|
0.00005
|
|
NM_001458.5(FLNC):c.6450C>T (p.Ile2150=)
|
rs776206819
|
0.00005
|
|
NM_001458.5(FLNC):c.64C>T (p.Pro22Ser)
|
rs368812043
|
0.00005
|
|
NM_001458.5(FLNC):c.6639C>T (p.Val2213=)
|
rs747628268
|
0.00005
|
|
NM_001458.5(FLNC):c.6865G>A (p.Ala2289Thr)
|
rs766740877
|
0.00005
|
|
NM_001458.5(FLNC):c.7111G>A (p.Val2371Ile)
|
rs552252122
|
0.00005
|
|
NM_001458.5(FLNC):c.7437T>C (p.Asp2479=)
|
rs1390623169
|
0.00005
|
|
NM_001458.5(FLNC):c.7781-10C>T
|
rs1425396629
|
0.00005
|
|
NM_001458.5(FLNC):c.942C>T (p.Ile314=)
|
rs746121984
|
0.00005
|
|
NM_001843.4(CNTN1):c.1013A>G (p.Asn338Ser)
|
rs200519841
|
0.00005
|
|
NM_001843.4(CNTN1):c.1444T>C (p.Tyr482His)
|
rs769284324
|
0.00005
|
|
NM_001843.4(CNTN1):c.2081T>C (p.Ile694Thr)
|
rs144933003
|
0.00005
|
|
NM_001843.4(CNTN1):c.2426G>C (p.Ser809Thr)
|
rs537681547
|
0.00005
|
|
NM_001843.4(CNTN1):c.2917G>A (p.Val973Ile)
|
rs768847583
|
0.00005
|
|
NM_001843.4(CNTN1):c.2931C>T (p.Arg977=)
|
rs139461180
|
0.00005
|
|
NM_001848.3(COL6A1):c.1179C>T (p.Asp393=)
|
rs182068143
|
0.00005
|
|
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln)
|
rs886057155
|
0.00005
|
|
NM_001848.3(COL6A1):c.2035C>T (p.Pro679Ser)
|
rs756467809
|
0.00005
|
|
NM_001848.3(COL6A1):c.2343G>A (p.Gln781=)
|
rs755487987
|
0.00005
|
|
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=)
|
rs139018148
|
0.00005
|
|
NM_001848.3(COL6A1):c.2799C>T (p.Gly933=)
|
rs773470822
|
0.00005
|
|
NM_001848.3(COL6A1):c.429-20C>T
|
rs779947824
|
0.00005
|
|
NM_001848.3(COL6A1):c.669C>T (p.Asp223=)
|
rs552000247
|
0.00005
|
|
NM_001848.3(COL6A1):c.985G>A (p.Gly329Arg)
|
rs200835287
|
0.00005
|
|
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser)
|
rs11701912
|
0.00005
|
|
NM_001849.4(COL6A2):c.116-3C>T
|
rs767597831
|
0.00005
|
|
NM_001849.4(COL6A2):c.1341T>C (p.Pro447=)
|
rs751688085
|
0.00005
|
|
NM_001849.4(COL6A2):c.1360G>A (p.Gly454Ser)
|
rs1035908319
|
0.00005
|
|
NM_001849.4(COL6A2):c.139G>A (p.Val47Met)
|
rs370171967
|
0.00005
|
|
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His)
|
rs267606749
|
0.00005
|
|
NM_001849.4(COL6A2):c.1608+15T>A
|
rs759865245
|
0.00005
|
|
NM_001849.4(COL6A2):c.1661A>G (p.Lys554Arg)
|
rs754196388
|
0.00005
|
|
NM_001849.4(COL6A2):c.1705C>T (p.Arg569Trp)
|
rs747089603
|
0.00005
|
|
NM_001849.4(COL6A2):c.1771-13G>A
|
rs376708282
|
0.00005
|
|
NM_001849.4(COL6A2):c.1780G>A (p.Val594Ile)
|
rs541785316
|
0.00005
|
|
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=)
|
rs760704425
|
0.00005
|
|
NM_001849.4(COL6A2):c.2171G>T (p.Arg724Leu)
|
rs145450812
|
0.00005
|
|
NM_001849.4(COL6A2):c.2196C>T (p.Asp732=)
|
rs188508745
|
0.00005
|
|
NM_001849.4(COL6A2):c.2205C>T (p.His735=)
|
rs755147431
|
0.00005
|
|
NM_001849.4(COL6A2):c.2277C>T (p.Ile759=)
|
rs201571249
|
0.00005
|
|
NM_001849.4(COL6A2):c.2322C>T (p.Ser774=)
|
rs200386811
|
0.00005
|
|
NM_001849.4(COL6A2):c.2462-13C>T
|
rs533454494
|
0.00005
|
|
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=)
|
rs774805224
|
0.00005
|
|
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)
|
rs774521989
|
0.00005
|
|
NM_001849.4(COL6A2):c.2679G>A (p.Pro893=)
|
rs748286207
|
0.00005
|
|
NM_001849.4(COL6A2):c.2757A>G (p.Ala919=)
|
rs758646770
|
0.00005
|
|
NM_001849.4(COL6A2):c.2770G>A (p.Ala924Thr)
|
rs771749652
|
0.00005
|
|
NM_001849.4(COL6A2):c.2847C>T (p.Asp949=)
|
rs369129061
|
0.00005
|
|
NM_001849.4(COL6A2):c.2904C>T (p.Asn968=)
|
rs143569686
|
0.00005
|
|
NM_001849.4(COL6A2):c.3034G>A (p.Asp1012Asn)
|
rs372431744
|
0.00005
|
|
NM_001849.4(COL6A2):c.532G>A (p.Glu178Lys)
|
rs369025432
|
0.00005
|
|
NM_001849.4(COL6A2):c.536G>A (p.Arg179Gln)
|
rs376139670
|
0.00005
|
|
NM_001849.4(COL6A2):c.637C>T (p.Arg213Cys)
|
rs374196682
|
0.00005
|
|
NM_001849.4(COL6A2):c.638G>A (p.Arg213His)
|
rs368064647
|
0.00005
|
|
NM_001849.4(COL6A2):c.648C>T (p.Tyr216=)
|
rs150004111
|
0.00005
|
|
NM_001849.4(COL6A2):c.736-7G>A
|
rs375288629
|
0.00005
|
|
NM_001849.4(COL6A2):c.999+15G>A
|
rs372055794
|
0.00005
|
|
NM_001927.4(DES):c.1009G>A (p.Ala337Thr)
|
rs59962885
|
0.00005
|
|
NM_001927.4(DES):c.1123C>T (p.Arg375Trp)
|
rs375218723
|
0.00005
|
|
NM_001927.4(DES):c.1371+1G>A
|
rs748323823
|
0.00005
|
|
NM_002469.3(MYF6):c.172G>A (p.Gly58Arg)
|
rs578239628
|
0.00005
|
|
NM_003283.6(TNNT1):c.551G>A (p.Arg184His)
|
rs759548188
|
0.00005
|
|
NM_003283.6(TNNT1):c.725C>T (p.Ala242Val)
|
rs779112211
|
0.00005
|
|
NM_004168.4(SDHA):c.1176C>T (p.Gly392=)
|
rs1041950
|
0.00005
|
|
NM_004168.4(SDHA):c.1299C>T (p.Pro433=)
|
rs144473374
|
0.00005
|
|
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)
|
rs369100772
|
0.00005
|
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
|
NM_004168.4(SDHA):c.1653G>A (p.Thr551=)
|
rs761927291
|
0.00005
|
|
NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr)
|
rs1282623859
|
0.00005
|
|
NM_004168.4(SDHA):c.408G>A (p.Gln136=)
|
rs190477316
|
0.00005
|
|
NM_004168.4(SDHA):c.51G>A (p.Ala17=)
|
rs764698195
|
0.00005
|
|
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)
|
rs772325115
|
0.00005
|
|
NM_004281.4(BAG3):c.133C>T (p.Arg45Cys)
|
rs747820097
|
0.00005
|
|
NM_004281.4(BAG3):c.181-10T>C
|
rs765292614
|
0.00005
|
|
NM_004281.4(BAG3):c.822G>A (p.Ser274=)
|
rs776700820
|
0.00005
|
|
NM_004281.4(BAG3):c.872C>T (p.Ser291Leu)
|
rs368866313
|
0.00005
|
|
NM_004369.4(COL6A3):c.1312+7A>G
|
rs949869773
|
0.00005
|
|
NM_004369.4(COL6A3):c.2666G>A (p.Arg889His)
|
rs111295967
|
0.00005
|
|
NM_004369.4(COL6A3):c.2695A>G (p.Ile899Val)
|
rs372114508
|
0.00005
|
|
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val)
|
rs202185764
|
0.00005
|
|
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=)
|
rs768233315
|
0.00005
|
|
NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=)
|
rs373719229
|
0.00005
|
|
NM_004369.4(COL6A3):c.3671C>T (p.Pro1224Leu)
|
rs754323567
|
0.00005
|
|
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp)
|
rs150430813
|
0.00005
|
|
NM_004369.4(COL6A3):c.3932A>G (p.Asn1311Ser)
|
rs200592625
|
0.00005
|
|
NM_004369.4(COL6A3):c.3934G>A (p.Val1312Met)
|
rs144878757
|
0.00005
|
|
NM_004369.4(COL6A3):c.4504G>A (p.Ala1502Thr)
|
rs201722265
|
0.00005
|
|
NM_004369.4(COL6A3):c.5068G>A (p.Glu1690Lys)
|
rs144451523
|
0.00005
|
|
NM_004369.4(COL6A3):c.5128G>A (p.Val1710Ile)
|
rs773631759
|
0.00005
|
|
NM_004369.4(COL6A3):c.5180G>A (p.Arg1727Gln)
|
rs760717002
|
0.00005
|
|
NM_004369.4(COL6A3):c.5680C>T (p.Pro1894Ser)
|
rs112540218
|
0.00005
|
|
NM_004369.4(COL6A3):c.5696A>G (p.Glu1899Gly)
|
rs768711436
|
0.00005
|
|
NM_004369.4(COL6A3):c.5734G>A (p.Glu1912Lys)
|
rs113251155
|
0.00005
|
|
NM_004369.4(COL6A3):c.6355-4G>T
|
rs755204422
|
0.00005
|
|
NM_004369.4(COL6A3):c.6408+16C>T
|
rs531635518
|
0.00005
|
|
NM_004369.4(COL6A3):c.6477C>T (p.Asn2159=)
|
rs149697986
|
0.00005
|
|
NM_004369.4(COL6A3):c.6640G>A (p.Gly2214Ser)
|
rs777454204
|
0.00005
|
|
NM_004369.4(COL6A3):c.6902T>C (p.Val2301Ala)
|
rs111927395
|
0.00005
|
|
NM_004369.4(COL6A3):c.7659C>T (p.Asn2553=)
|
rs369335838
|
0.00005
|
|
NM_004369.4(COL6A3):c.7668+16G>A
|
rs746169209
|
0.00005
|
|
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=)
|
rs758582935
|
0.00005
|
|
NM_004369.4(COL6A3):c.8373C>T (p.Asn2791=)
|
rs770214487
|
0.00005
|
|
NM_004369.4(COL6A3):c.8632A>G (p.Thr2878Ala)
|
rs761653490
|
0.00005
|
|
NM_004369.4(COL6A3):c.8996A>G (p.Glu2999Gly)
|
rs537189097
|
0.00005
|
|
NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly)
|
rs199680718
|
0.00005
|
|
NM_004369.4(COL6A3):c.966C>T (p.Ile322=)
|
rs369160080
|
0.00005
|
|
NM_004370.6(COL12A1):c.110A>G (p.Asp37Gly)
|
rs374757163
|
0.00005
|
|
NM_004370.6(COL12A1):c.1821G>A (p.Arg607=)
|
rs199994914
|
0.00005
|
|
NM_004370.6(COL12A1):c.1892-6A>T
|
rs60109744
|
0.00005
|
|
NM_004370.6(COL12A1):c.1971A>C (p.Glu657Asp)
|
rs758146130
|
0.00005
|
|
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe)
|
rs199992321
|
0.00005
|
|
NM_004370.6(COL12A1):c.2610G>A (p.Leu870=)
|
rs377030726
|
0.00005
|
|
NM_004370.6(COL12A1):c.2880G>A (p.Thr960=)
|
rs374531525
|
0.00005
|
|
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)
|
rs201996851
|
0.00005
|
|
NM_004370.6(COL12A1):c.3091C>T (p.Arg1031Cys)
|
rs575168916
|
0.00005
|
|
NM_004370.6(COL12A1):c.3671G>A (p.Arg1224His)
|
rs191996302
|
0.00005
|
|
NM_004370.6(COL12A1):c.384C>T (p.Thr128=)
|
rs200378966
|
0.00005
|
|
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val)
|
rs199757996
|
0.00005
|
|
NM_004370.6(COL12A1):c.4288-5C>T
|
rs544779989
|
0.00005
|
|
NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys)
|
rs200870100
|
0.00005
|
|
NM_004370.6(COL12A1):c.7257C>T (p.Ser2419=)
|
rs554342070
|
0.00005
|
|
NM_004370.6(COL12A1):c.7331C>T (p.Ala2444Val)
|
rs367980407
|
0.00005
|
|
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)
|
rs749760185
|
0.00005
|
|
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=)
|
rs373455368
|
0.00005
|
|
NM_004370.6(COL12A1):c.9072C>A (p.Gly3024=)
|
rs572512247
|
0.00005
|
|
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu)
|
rs370090007
|
0.00005
|
|
NM_006063.3(KLHL41):c.798T>C (p.Pro266=)
|
rs375564888
|
0.00005
|
|
NM_006790.3(MYOT):c.1458G>A (p.Leu486=)
|
rs202139846
|
0.00005
|
|
NM_006790.3(MYOT):c.252G>A (p.Arg84=)
|
rs886044687
|
0.00005
|
|
NM_006790.3(MYOT):c.642C>A (p.Asn214Lys)
|
rs957169726
|
0.00005
|
|
NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala)
|
rs397517211
|
0.00005
|
|
NM_007078.3(LDB3):c.1547G>A (p.Arg516Gln)
|
rs762985970
|
0.00005
|
|
NM_007078.3(LDB3):c.1654G>A (p.Gly552Ser)
|
rs771007816
|
0.00005
|
|
NM_007078.3(LDB3):c.1728C>T (p.Thr576=)
|
rs749988944
|
0.00005
|
|
NM_007078.3(LDB3):c.1904T>G (p.Val635Gly)
|
rs567014755
|
0.00005
|
|
NM_007078.3(LDB3):c.2073C>T (p.His691=)
|
rs45486293
|
0.00005
|
|
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr)
|
rs774976112
|
0.00005
|
|
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu)
|
rs375306400
|
0.00005
|
|
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys)
|
rs45521338
|
0.00005
|
|
NM_007078.3(LDB3):c.992C>T (p.Ala331Val)
|
rs368053281
|
0.00005
|
|
NM_017534.6(MYH2):c.1535C>T (p.Thr512Met)
|
rs376478405
|
0.00005
|
|
NM_017534.6(MYH2):c.156C>A (p.Ile52=)
|
rs770211650
|
0.00005
|
|
NM_017534.6(MYH2):c.2347C>A (p.Arg783=)
|
rs762121316
|
0.00005
|
|
NM_017534.6(MYH2):c.3425G>A (p.Arg1142His)
|
rs781136210
|
0.00005
|
|
NM_017534.6(MYH2):c.3751C>G (p.Leu1251Val)
|
rs774428848
|
0.00005
|
|
NM_017534.6(MYH2):c.3821G>A (p.Arg1274Gln)
|
rs756811670
|
0.00005
|
|
NM_017534.6(MYH2):c.3883C>T (p.Arg1295Cys)
|
rs370424529
|
0.00005
|
|
NM_017534.6(MYH2):c.4049G>A (p.Arg1350Gln)
|
rs145438977
|
0.00005
|
|
NM_017534.6(MYH2):c.4110C>T (p.Ala1370=)
|
rs377674160
|
0.00005
|
|
NM_017534.6(MYH2):c.5002C>T (p.Arg1668Trp)
|
rs569489518
|
0.00005
|
|
NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val)
|
rs377385495
|
0.00005
|
|
NM_017534.6(MYH2):c.5512C>T (p.Arg1838Cys)
|
rs368695212
|
0.00005
|
|
NM_017534.6(MYH2):c.649-18C>G
|
rs774417322
|
0.00005
|
|
NM_017534.6(MYH2):c.741+18G>A
|
rs368457931
|
0.00005
|
|
NM_020451.3(SELENON):c.1152C>T (p.Ser384=)
|
rs546136806
|
0.00005
|
|
NM_020451.3(SELENON):c.1344C>T (p.His448=)
|
rs752098351
|
0.00005
|
|
NM_020451.3(SELENON):c.1500+8G>A
|
rs930103539
|
0.00005
|
|
NM_020451.3(SELENON):c.183+10C>G
|
rs1405420770
|
0.00005
|
|
NM_020451.3(SELENON):c.1A>G (p.Met1Val)
|
rs121908184
|
0.00005
|
|
NM_020451.3(SELENON):c.393C>T (p.Leu131=)
|
rs947474610
|
0.00005
|
|
NM_020451.3(SELENON):c.989G>A (p.Arg330Gln)
|
rs758037272
|
0.00005
|
|
NM_032790.4(ORAI1):c.123G>A (p.Gly41=)
|
rs782246766
|
0.00005
|
|
NM_032790.4(ORAI1):c.726C>G (p.Ile242Met)
|
rs782656834
|
0.00005
|
|
NM_139343.3(BIN1):c.1131+9C>T
|
rs138606879
|
0.00005
|
|
NM_139343.3(BIN1):c.1132-6_1132-4dup
|
rs765093741
|
0.00005
|
|
NM_139343.3(BIN1):c.1442C>T (p.Ala481Val)
|
rs140410496
|
0.00005
|
|
NM_139343.3(BIN1):c.1525G>A (p.Gly509Ser)
|
rs745758782
|
0.00005
|
|
NM_139343.3(BIN1):c.1741C>T (p.Arg581Cys)
|
rs147655157
|
0.00005
|
|
NM_139343.3(BIN1):c.52G>A (p.Val18Met)
|
rs566597765
|
0.00005
|
|
NM_139343.3(BIN1):c.924C>T (p.Pro308=)
|
rs367611371
|
0.00005
|
|
NM_145064.3(STAC3):c.545G>A (p.Arg182His)
|
rs200605475
|
0.00005
|
|
NM_152263.4(TPM3):c.327T>G (p.Thr109=)
|
rs764255899
|
0.00005
|
|
NM_152393.4(KLHL40):c.1335G>A (p.Ser445=)
|
rs149611135
|
0.00005
|
|
NM_152393.4(KLHL40):c.1595T>C (p.Ile532Thr)
|
rs368161576
|
0.00005
|
|
NM_152393.4(KLHL40):c.1620C>T (p.Phe540=)
|
rs199888675
|
0.00005
|
|
NM_152393.4(KLHL40):c.1710G>A (p.Thr570=)
|
rs151268251
|
0.00005
|
|
NM_198271.5(LMOD3):c.1464G>A (p.Val488=)
|
rs532434736
|
0.00005
|
|
NM_198271.5(LMOD3):c.1680G>A (p.Ala560=)
|
rs377046368
|
0.00005
|
|
NM_198859.4(PRICKLE2):c.1406G>A (p.Arg469Gln)
|
rs746640172
|
0.00005
|
|
NM_198859.4(PRICKLE2):c.1601C>T (p.Thr534Met)
|
rs559885674
|
0.00005
|
|
NM_198859.4(PRICKLE2):c.2259G>A (p.Ser753=)
|
rs769036804
|
0.00005
|
|
NM_213720.3(CHCHD10):c.132C>T (p.Leu44=)
|
rs776304054
|
0.00005
|
|
NM_213720.3(CHCHD10):c.273C>T (p.Pro91=)
|
rs773772416
|
0.00005
|
|
NM_000036.3(AMPD1):c.-33T>C
|
rs747318529
|
0.00004
|
|
NM_000036.3(AMPD1):c.103C>T (p.Arg35Cys)
|
rs139512772
|
0.00004
|
|
NM_000036.3(AMPD1):c.1112G>A (p.Arg371His)
|
rs146437677
|
0.00004
|
|
NM_000036.3(AMPD1):c.1174T>C (p.Leu392=)
|
rs369767517
|
0.00004
|
|
NM_000036.3(AMPD1):c.1192A>G (p.Ile398Val)
|
rs1263217341
|
0.00004
|
|
NM_000036.3(AMPD1):c.1473C>T (p.Ile491=)
|
rs145557954
|
0.00004
|
|
NM_000036.3(AMPD1):c.1974+1G>A
|
rs145328844
|
0.00004
|
|
NM_000036.3(AMPD1):c.394G>A (p.Asp132Asn)
|
rs149160130
|
0.00004
|
|
NM_000036.3(AMPD1):c.504C>T (p.Asn168=)
|
rs374681411
|
0.00004
|
|
NM_000036.3(AMPD1):c.53G>A (p.Arg18His)
|
rs140601541
|
0.00004
|
|
NM_000036.3(AMPD1):c.636C>T (p.Asp212=)
|
rs181412206
|
0.00004
|
|
NM_000036.3(AMPD1):c.784C>T (p.Arg262Trp)
|
rs768332999
|
0.00004
|
|
NM_000036.3(AMPD1):c.787C>T (p.Arg263Cys)
|
rs139003085
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=)
|
rs782471244
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.583+10G>A
|
rs370536414
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.584-7T>C
|
rs397515745
|
0.00004
|
|
NM_000182.5(HADHA):c.1003G>A (p.Glu335Lys)
|
rs769821069
|
0.00004
|
|
NM_000182.5(HADHA):c.1086-12C>T
|
rs767692992
|
0.00004
|
|
NM_000182.5(HADHA):c.1141G>A (p.Val381Met)
|
rs764067083
|
0.00004
|
|
NM_000182.5(HADHA):c.1209A>G (p.Gln403=)
|
rs780178287
|
0.00004
|
|
NM_000182.5(HADHA):c.1542C>T (p.Thr514=)
|
rs374189575
|
0.00004
|
|
NM_000182.5(HADHA):c.1554C>A (p.Ser518=)
|
rs765162716
|
0.00004
|
|
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr)
|
rs753722938
|
0.00004
|
|
NM_000182.5(HADHA):c.1788G>A (p.Ala596=)
|
rs190409957
|
0.00004
|
|
NM_000182.5(HADHA):c.316A>G (p.Met106Val)
|
rs143122454
|
0.00004
|
|
NM_000182.5(HADHA):c.323C>A (p.Ala108Asp)
|
rs762296285
|
0.00004
|
|
NM_000182.5(HADHA):c.504A>G (p.Val168=)
|
rs1004279547
|
0.00004
|
|
NM_000182.5(HADHA):c.585T>A (p.Pro195=)
|
rs202034466
|
0.00004
|
|
NM_000182.5(HADHA):c.858G>A (p.Val286=)
|
rs373864418
|
0.00004
|
|
NM_000182.5(HADHA):c.896C>A (p.Pro299His)
|
rs905722226
|
0.00004
|
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
|
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val)
|
rs374840025
|
0.00004
|
|
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser)
|
rs375329638
|
0.00004
|
|
NM_000183.3(HADHB):c.266A>G (p.His89Arg)
|
rs373356931
|
0.00004
|
|
NM_000183.3(HADHB):c.426C>T (p.Asn142=)
|
rs777313153
|
0.00004
|
|
NM_000183.3(HADHB):c.510T>C (p.Asp170=)
|
rs374852324
|
0.00004
|
|
NM_000183.3(HADHB):c.64+15A>T
|
rs1018820638
|
0.00004
|
|
NM_000252.3(MTM1):c.1196G>A (p.Ser399Asn)
|
rs782295697
|
0.00004
|
|
NM_000252.3(MTM1):c.1383A>G (p.Gln461=)
|
rs782410861
|
0.00004
|
|
NM_000252.3(MTM1):c.1695C>T (p.Asp565=)
|
rs140744506
|
0.00004
|
|
NM_000252.3(MTM1):c.230C>T (p.Thr77Met)
|
rs782640338
|
0.00004
|
|
NM_000252.3(MTM1):c.66G>A (p.Thr22=)
|
rs781793926
|
0.00004
|
|
NM_000252.3(MTM1):c.710C>T (p.Thr237Met)
|
rs375590163
|
0.00004
|
|
NM_000252.3(MTM1):c.868-9G>T
|
rs782148583
|
0.00004
|
|
NM_001100.4(ACTA1):c.130-11C>G
|
rs202159198
|
0.00004
|
|
NM_001100.4(ACTA1):c.282C>T (p.Asn94=)
|
rs772124885
|
0.00004
|
|
NM_001100.4(ACTA1):c.616+19C>A
|
rs374307939
|
0.00004
|
|
NM_001101362.3(KBTBD13):c.1184C>T (p.Thr395Met)
|
rs758995387
|
0.00004
|
|
NM_001101362.3(KBTBD13):c.1191G>C (p.Val397=)
|
rs376673920
|
0.00004
|
|
NM_001101362.3(KBTBD13):c.243C>T (p.Ala81=)
|
rs536164662
|
0.00004
|
|
NM_001101362.3(KBTBD13):c.261C>T (p.Phe87=)
|
rs770172865
|
0.00004
|
|
NM_001101362.3(KBTBD13):c.276G>C (p.Ala92=)
|
rs566529505
|
0.00004
|
|
NM_001101362.3(KBTBD13):c.483C>A (p.Ser161Arg)
|
rs1464339145
|
0.00004
|
|
NM_001101362.3(KBTBD13):c.499C>G (p.Pro167Ala)
|
rs749520412
|
0.00004
|
|
NM_001101362.3(KBTBD13):c.609G>A (p.Gly203=)
|
rs755363956
|
0.00004
|
|
NM_001101362.3(KBTBD13):c.977G>A (p.Arg326Gln)
|
rs779729198
|
0.00004
|
|
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp)
|
rs186686151
|
0.00004
|
|
NM_001164507.2(NEB):c.21345A>G (p.Lys7115=)
|
rs754506178
|
0.00004
|
|
NM_001164508.2(NEB):c.10074C>T (p.His3358=)
|
rs896373241
|
0.00004
|
|
NM_001164508.2(NEB):c.10083G>A (p.Thr3361=)
|
rs778762176
|
0.00004
|
|
NM_001164508.2(NEB):c.10092C>T (p.Pro3364=)
|
rs768708852
|
0.00004
|
|
NM_001164508.2(NEB):c.10146C>G (p.Asn3382Lys)
|
rs374471394
|
0.00004
|
|
NM_001164508.2(NEB):c.1015G>A (p.Ala339Thr)
|
rs762993577
|
0.00004
|
|
NM_001164508.2(NEB):c.10268C>T (p.Pro3423Leu)
|
rs753198978
|
0.00004
|
|
NM_001164508.2(NEB):c.10827G>A (p.Gln3609=)
|
rs775200475
|
0.00004
|
|
NM_001164508.2(NEB):c.10986C>T (p.Tyr3662=)
|
rs373365702
|
0.00004
|
|
NM_001164508.2(NEB):c.11005C>A (p.Leu3669Met)
|
rs775362248
|
0.00004
|
|
NM_001164508.2(NEB):c.11082A>G (p.Leu3694=)
|
rs774349707
|
0.00004
|
|
NM_001164508.2(NEB):c.11697C>A (p.Ile3899=)
|
rs755871388
|
0.00004
|
|
NM_001164508.2(NEB):c.11763G>A (p.Pro3921=)
|
rs554366790
|
0.00004
|
|
NM_001164508.2(NEB):c.11851G>A (p.Val3951Met)
|
rs759624618
|
0.00004
|
|
NM_001164508.2(NEB):c.12018+20C>T
|
rs951202856
|
0.00004
|
|
NM_001164508.2(NEB):c.12062T>C (p.Ile4021Thr)
|
rs370068571
|
0.00004
|
|
NM_001164508.2(NEB):c.12594T>G (p.Thr4198=)
|
rs1253550964
|
0.00004
|
|
NM_001164508.2(NEB):c.12790A>G (p.Met4264Val)
|
rs1363996930
|
0.00004
|
|
NM_001164508.2(NEB):c.13047C>T (p.Asp4349=)
|
rs886038431
|
0.00004
|
|
NM_001164508.2(NEB):c.13179A>C (p.Ile4393=)
|
rs1314887624
|
0.00004
|
|
NM_001164508.2(NEB):c.1350A>G (p.Thr450=)
|
rs774227589
|
0.00004
|
|
NM_001164508.2(NEB):c.1386C>T (p.Tyr462=)
|
rs376911383
|
0.00004
|
|
NM_001164508.2(NEB):c.1602G>C (p.Lys534Asn)
|
rs777148695
|
0.00004
|
|
NM_001164508.2(NEB):c.16790C>G (p.Ala5597Gly)
|
rs777969701
|
0.00004
|
|
NM_001164508.2(NEB):c.17048C>T (p.Ala5683Val)
|
rs761829162
|
0.00004
|
|
NM_001164508.2(NEB):c.17113A>G (p.Ser5705Gly)
|
rs777639198
|
0.00004
|
|
NM_001164508.2(NEB):c.17160C>T (p.Tyr5720=)
|
rs768508081
|
0.00004
|
|
NM_001164508.2(NEB):c.17183A>T (p.Asp5728Val)
|
rs756098317
|
0.00004
|
|
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=)
|
rs555516831
|
0.00004
|
|
NM_001164508.2(NEB):c.17496C>T (p.Ser5832=)
|
rs746291431
|
0.00004
|
|
NM_001164508.2(NEB):c.1779C>T (p.Ser593=)
|
rs1212529440
|
0.00004
|
|
NM_001164508.2(NEB):c.17814T>C (p.His5938=)
|
rs776069270
|
0.00004
|
|
NM_001164508.2(NEB):c.17845-6C>T
|
rs376370460
|
0.00004
|
|
NM_001164508.2(NEB):c.1800C>T (p.Asp600=)
|
rs532710372
|
0.00004
|
|
NM_001164508.2(NEB):c.18115G>A (p.Asp6039Asn)
|
rs377076154
|
0.00004
|
|
NM_001164508.2(NEB):c.18471+20A>G
|
rs202133044
|
0.00004
|
|
NM_001164508.2(NEB):c.18489G>A (p.Ala6163=)
|
rs371669095
|
0.00004
|
|
NM_001164508.2(NEB):c.18839T>C (p.Leu6280Pro)
|
rs372271428
|
0.00004
|
|
NM_001164508.2(NEB):c.18885G>A (p.Leu6295=)
|
rs141925015
|
0.00004
|
|
NM_001164508.2(NEB):c.19110T>C (p.Tyr6370=)
|
rs771969348
|
0.00004
|
|
NM_001164508.2(NEB):c.1914C>T (p.Asn638=)
|
rs901423026
|
0.00004
|
|
NM_001164508.2(NEB):c.19214A>G (p.Tyr6405Cys)
|
rs368240939
|
0.00004
|
|
NM_001164508.2(NEB):c.19386G>A (p.Pro6462=)
|
rs199835469
|
0.00004
|
|
NM_001164508.2(NEB):c.19476C>T (p.Ile6492=)
|
rs113068669
|
0.00004
|
|
NM_001164508.2(NEB):c.1953G>A (p.Glu651=)
|
rs367997645
|
0.00004
|
|
NM_001164508.2(NEB):c.19626+14_19626+15del
|
rs537345128
|
0.00004
|
|
NM_001164508.2(NEB):c.19722A>G (p.Leu6574=)
|
rs141526973
|
0.00004
|
|
NM_001164508.2(NEB):c.19737G>A (p.Lys6579=)
|
rs770882814
|
0.00004
|
|
NM_001164508.2(NEB):c.1998+9A>G
|
rs772240494
|
0.00004
|
|
NM_001164508.2(NEB):c.19989A>T (p.Arg6663Ser)
|
rs755153044
|
0.00004
|
|
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215
|
0.00004
|
|
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln)
|
rs781250495
|
0.00004
|
|
NM_001164508.2(NEB):c.20158-4G>T
|
rs568113302
|
0.00004
|
|
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys)
|
rs776334631
|
0.00004
|
|
NM_001164508.2(NEB):c.20346T>C (p.Tyr6782=)
|
rs767355230
|
0.00004
|
|
NM_001164508.2(NEB):c.20417T>C (p.Leu6806Pro)
|
rs767873861
|
0.00004
|
|
NM_001164508.2(NEB):c.20577+6G>A
|
rs775513148
|
0.00004
|
|
NM_001164508.2(NEB):c.20577+8C>T
|
rs762136090
|
0.00004
|
|
NM_001164508.2(NEB):c.20834C>T (p.Pro6945Leu)
|
rs376157878
|
0.00004
|
|
NM_001164508.2(NEB):c.20940G>A (p.Thr6980=)
|
rs369611234
|
0.00004
|
|
NM_001164508.2(NEB):c.20945A>T (p.Lys6982Ile)
|
rs776012642
|
0.00004
|
|
NM_001164508.2(NEB):c.20998-13T>C
|
rs375312685
|
0.00004
|
|
NM_001164508.2(NEB):c.21417+3A>G
|
rs148950085
|
0.00004
|
|
NM_001164508.2(NEB):c.21736-16C>T
|
rs746834957
|
0.00004
|
|
NM_001164508.2(NEB):c.21841-19T>C
|
rs763501109
|
0.00004
|
|
NM_001164508.2(NEB):c.21863A>G (p.Glu7288Gly)
|
rs747282707
|
0.00004
|
|
NM_001164508.2(NEB):c.21875G>A (p.Gly7292Asp)
|
rs780278859
|
0.00004
|
|
NM_001164508.2(NEB):c.21892A>T (p.Thr7298Ser)
|
rs531618541
|
0.00004
|
|
NM_001164508.2(NEB):c.218G>A (p.Arg73Gln)
|
rs727504037
|
0.00004
|
|
NM_001164508.2(NEB):c.21993C>T (p.Ala7331=)
|
rs371611266
|
0.00004
|
|
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile)
|
rs1396168176
|
0.00004
|
|
NM_001164508.2(NEB):c.22264C>A (p.Gln7422Lys)
|
rs369642754
|
0.00004
|
|
NM_001164508.2(NEB):c.22349C>T (p.Thr7450Ile)
|
rs575499014
|
0.00004
|
|
NM_001164508.2(NEB):c.22500C>T (p.Phe7500=)
|
rs772294501
|
0.00004
|
|
NM_001164508.2(NEB):c.2250G>A (p.Thr750=)
|
rs753965951
|
0.00004
|
|
NM_001164508.2(NEB):c.22591-6A>G
|
rs758209784
|
0.00004
|
|
NM_001164508.2(NEB):c.22890G>A (p.Gln7630=)
|
rs765598242
|
0.00004
|
|
NM_001164508.2(NEB):c.23199G>A (p.Pro7733=)
|
rs775027154
|
0.00004
|
|
NM_001164508.2(NEB):c.23346+5G>A
|
rs778663301
|
0.00004
|
|
NM_001164508.2(NEB):c.23347-13A>G
|
rs376065596
|
0.00004
|
|
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=)
|
rs770713773
|
0.00004
|
|
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His)
|
rs369514998
|
0.00004
|
|
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys)
|
rs758166991
|
0.00004
|
|
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn)
|
rs760905651
|
0.00004
|
|
NM_001164508.2(NEB):c.23854T>C (p.Leu7952=)
|
rs763873161
|
0.00004
|
|
NM_001164508.2(NEB):c.23928G>A (p.Ser7976=)
|
rs558657964
|
0.00004
|
|
NM_001164508.2(NEB):c.24240C>T (p.Thr8080=)
|
rs935211033
|
0.00004
|
|
NM_001164508.2(NEB):c.24480T>A (p.Ile8160=)
|
rs746456810
|
0.00004
|
|
NM_001164508.2(NEB):c.24485C>T (p.Ser8162Leu)
|
rs541908352
|
0.00004
|
|
NM_001164508.2(NEB):c.24574A>G (p.Ser8192Gly)
|
rs141240053
|
0.00004
|
|
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)
|
rs201291446
|
0.00004
|
|
NM_001164508.2(NEB):c.24671C>T (p.Ser8224Leu)
|
rs746031384
|
0.00004
|
|
NM_001164508.2(NEB):c.24765+8C>T
|
rs374935839
|
0.00004
|
|
NM_001164508.2(NEB):c.24842G>A (p.Arg8281Gln)
|
rs770024830
|
0.00004
|
|
NM_001164508.2(NEB):c.25009G>A (p.Val8337Ile)
|
rs377336846
|
0.00004
|
|
NM_001164508.2(NEB):c.25064G>A (p.Arg8355His)
|
rs778972474
|
0.00004
|
|
NM_001164508.2(NEB):c.25073G>A (p.Arg8358His)
|
rs796797375
|
0.00004
|
|
NM_001164508.2(NEB):c.25130G>A (p.Arg8377Gln)
|
rs369174368
|
0.00004
|
|
NM_001164508.2(NEB):c.25239A>G (p.Glu8413=)
|
rs576696191
|
0.00004
|
|
NM_001164508.2(NEB):c.25240G>A (p.Ala8414Thr)
|
rs563173814
|
0.00004
|
|
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)
|
rs200731870
|
0.00004
|
|
NM_001164508.2(NEB):c.25415G>A (p.Arg8472His)
|
rs368346105
|
0.00004
|
|
NM_001164508.2(NEB):c.25449T>C (p.Asp8483=)
|
rs1425045342
|
0.00004
|
|
NM_001164508.2(NEB):c.255C>T (p.Tyr85=)
|
rs375749306
|
0.00004
|
|
NM_001164508.2(NEB):c.2657A>C (p.Tyr886Ser)
|
rs371105660
|
0.00004
|
|
NM_001164508.2(NEB):c.27G>A (p.Glu9=)
|
rs1197614931
|
0.00004
|
|
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln)
|
rs368642083
|
0.00004
|
|
NM_001164508.2(NEB):c.295-8C>T
|
rs767768026
|
0.00004
|
|
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val)
|
rs370976402
|
0.00004
|
|
NM_001164508.2(NEB):c.3567+7G>C
|
rs754580455
|
0.00004
|
|
NM_001164508.2(NEB):c.3570C>T (p.Asn1190=)
|
rs377168325
|
0.00004
|
|
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile)
|
rs767493706
|
0.00004
|
|
NM_001164508.2(NEB):c.3923A>G (p.Asn1308Ser)
|
rs777962427
|
0.00004
|
|
NM_001164508.2(NEB):c.4072T>C (p.Tyr1358His)
|
rs377054979
|
0.00004
|
|
NM_001164508.2(NEB):c.4119C>G (p.Asn1373Lys)
|
rs377653217
|
0.00004
|
|
NM_001164508.2(NEB):c.4127A>G (p.Asn1376Ser)
|
rs1309733626
|
0.00004
|
|
NM_001164508.2(NEB):c.4271C>T (p.Thr1424Met)
|
rs372694084
|
0.00004
|
|
NM_001164508.2(NEB):c.4300-4A>G
|
rs762231656
|
0.00004
|
|
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys)
|
rs771779312
|
0.00004
|
|
NM_001164508.2(NEB):c.4414T>C (p.Tyr1472His)
|
rs748121656
|
0.00004
|
|
NM_001164508.2(NEB):c.4434C>T (p.Thr1478=)
|
rs747503023
|
0.00004
|
|
NM_001164508.2(NEB):c.4509G>A (p.Leu1503=)
|
rs749368259
|
0.00004
|
|
NM_001164508.2(NEB):c.4593C>T (p.Asn1531=)
|
rs373328073
|
0.00004
|
|
NM_001164508.2(NEB):c.4680A>T (p.Pro1560=)
|
rs369222043
|
0.00004
|
|
NM_001164508.2(NEB):c.47A>T (p.Glu16Val)
|
rs748679499
|
0.00004
|
|
NM_001164508.2(NEB):c.486A>G (p.Lys162=)
|
rs768796648
|
0.00004
|
|
NM_001164508.2(NEB):c.491C>T (p.Ser164Leu)
|
rs747225286
|
0.00004
|
|
NM_001164508.2(NEB):c.5043A>G (p.Lys1681=)
|
rs201968673
|
0.00004
|
|
NM_001164508.2(NEB):c.5073C>T (p.Ile1691=)
|
rs190322907
|
0.00004
|
|
NM_001164508.2(NEB):c.5095C>G (p.Leu1699Val)
|
rs1000847538
|
0.00004
|
|
NM_001164508.2(NEB):c.5161G>A (p.Glu1721Lys)
|
rs750732565
|
0.00004
|
|
NM_001164508.2(NEB):c.5174T>C (p.Phe1725Ser)
|
rs368270996
|
0.00004
|
|
NM_001164508.2(NEB):c.5229C>T (p.Asn1743=)
|
rs769446481
|
0.00004
|
|
NM_001164508.2(NEB):c.5413A>G (p.Ile1805Val)
|
rs200412065
|
0.00004
|
|
NM_001164508.2(NEB):c.5429C>T (p.Ala1810Val)
|
rs752744680
|
0.00004
|
|
NM_001164508.2(NEB):c.5452-4A>G
|
rs376623225
|
0.00004
|
|
NM_001164508.2(NEB):c.5641G>A (p.Ala1881Thr)
|
rs547507758
|
0.00004
|
|
NM_001164508.2(NEB):c.5685C>T (p.Asn1895=)
|
rs767710041
|
0.00004
|
|
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg)
|
rs758655350
|
0.00004
|
|
NM_001164508.2(NEB):c.6011T>C (p.Val2004Ala)
|
rs764064217
|
0.00004
|
|
NM_001164508.2(NEB):c.6075+3A>C
|
rs986325764
|
0.00004
|
|
NM_001164508.2(NEB):c.6248A>G (p.Asp2083Gly)
|
rs368626849
|
0.00004
|
|
NM_001164508.2(NEB):c.6351C>T (p.Ala2117=)
|
rs756476348
|
0.00004
|
|
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=)
|
rs376535906
|
0.00004
|
|
NM_001164508.2(NEB):c.6916-20T>C
|
rs780933765
|
0.00004
|
|
NM_001164508.2(NEB):c.6932G>C (p.Gly2311Ala)
|
rs372655602
|
0.00004
|
|
NM_001164508.2(NEB):c.7134C>T (p.Asp2378=)
|
rs752098313
|
0.00004
|
|
NM_001164508.2(NEB):c.7387A>T (p.Met2463Leu)
|
rs777231395
|
0.00004
|
|
NM_001164508.2(NEB):c.7549A>G (p.Met2517Val)
|
rs577856870
|
0.00004
|
|
NM_001164508.2(NEB):c.7582G>A (p.Asp2528Asn)
|
rs369496057
|
0.00004
|
|
NM_001164508.2(NEB):c.7677C>T (p.Leu2559=)
|
rs371565168
|
0.00004
|
|
NM_001164508.2(NEB):c.7758C>T (p.Asp2586=)
|
rs559846137
|
0.00004
|
|
NM_001164508.2(NEB):c.7864G>A (p.Val2622Met)
|
rs905660353
|
0.00004
|
|
NM_001164508.2(NEB):c.7905C>T (p.Pro2635=)
|
rs768623821
|
0.00004
|
|
NM_001164508.2(NEB):c.7906G>A (p.Asp2636Asn)
|
rs760643814
|
0.00004
|
|
NM_001164508.2(NEB):c.8104C>T (p.Leu2702Phe)
|
rs372248515
|
0.00004
|
|
NM_001164508.2(NEB):c.8265+3A>T
|
rs374475460
|
0.00004
|
|
NM_001164508.2(NEB):c.8363T>C (p.Ile2788Thr)
|
rs990382620
|
0.00004
|
|
NM_001164508.2(NEB):c.8582T>C (p.Leu2861Ser)
|
rs529735446
|
0.00004
|
|
NM_001164508.2(NEB):c.8635G>A (p.Asp2879Asn)
|
rs767512294
|
0.00004
|
|
NM_001164508.2(NEB):c.8683G>A (p.Asp2895Asn)
|
rs779416595
|
0.00004
|
|
NM_001164508.2(NEB):c.8834T>C (p.Val2945Ala)
|
rs748120166
|
0.00004
|
|
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg)
|
rs760903716
|
0.00004
|
|
NM_001164508.2(NEB):c.8994+14C>T
|
rs769383205
|
0.00004
|
|
NM_001164508.2(NEB):c.8995-20T>A
|
rs769910108
|
0.00004
|
|
NM_001164508.2(NEB):c.9000G>A (p.Leu3000=)
|
rs755291072
|
0.00004
|
|
NM_001164508.2(NEB):c.9112A>G (p.Lys3038Glu)
|
rs780293943
|
0.00004
|
|
NM_001164508.2(NEB):c.9198A>G (p.Val3066=)
|
rs752327839
|
0.00004
|
|
NM_001164508.2(NEB):c.9564G>T (p.Val3188=)
|
rs769658110
|
0.00004
|
|
NM_001164508.2(NEB):c.9619-2A>G
|
rs375145370
|
0.00004
|
|
NM_001164508.2(NEB):c.9813C>T (p.Ser3271=)
|
rs372239158
|
0.00004
|
|
NM_001164508.2(NEB):c.9864C>T (p.Leu3288=)
|
rs775810612
|
0.00004
|
|
NM_001256545.2(MEGF10):c.1044G>T (p.Glu348Asp)
|
rs370219469
|
0.00004
|
|
NM_001256545.2(MEGF10):c.1302C>G (p.Phe434Leu)
|
rs1408693633
|
0.00004
|
|
NM_001256545.2(MEGF10):c.1590+16C>T
|
rs371033044
|
0.00004
|
|
NM_001256545.2(MEGF10):c.1621C>T (p.Arg541Cys)
|
rs866094740
|
0.00004
|
|
NM_001256545.2(MEGF10):c.1654C>T (p.Pro552Ser)
|
rs978960737
|
0.00004
|
|
NM_001256545.2(MEGF10):c.1800C>T (p.Cys600=)
|
rs528654275
|
0.00004
|
|
NM_001256545.2(MEGF10):c.2022C>T (p.Thr674=)
|
rs749631882
|
0.00004
|
|
NM_001256545.2(MEGF10):c.2477C>T (p.Ala826Val)
|
rs150095036
|
0.00004
|
|
NM_001256545.2(MEGF10):c.2590A>G (p.Ile864Val)
|
rs780877446
|
0.00004
|
|
NM_001256545.2(MEGF10):c.2942C>T (p.Pro981Leu)
|
rs1064793648
|
0.00004
|
|
NM_001256545.2(MEGF10):c.2968C>T (p.Leu990Phe)
|
rs750829562
|
0.00004
|
|
NM_001256545.2(MEGF10):c.3033A>T (p.Gly1011=)
|
rs745591064
|
0.00004
|
|
NM_001256545.2(MEGF10):c.304G>A (p.Gly102Arg)
|
rs200703478
|
0.00004
|
|
NM_001256545.2(MEGF10):c.3159G>A (p.Ser1053=)
|
rs143914256
|
0.00004
|
|
NM_001256545.2(MEGF10):c.365A>G (p.Asn122Ser)
|
rs375276332
|
0.00004
|
|
NM_001256545.2(MEGF10):c.492C>T (p.Thr164=)
|
rs1252315041
|
0.00004
|
|
NM_001256545.2(MEGF10):c.530G>A (p.Arg177His)
|
rs373950666
|
0.00004
|
|
NM_001256545.2(MEGF10):c.632G>A (p.Arg211His)
|
rs377520032
|
0.00004
|
|
NM_001256545.2(MEGF10):c.863C>T (p.Thr288Met)
|
rs781179892
|
0.00004
|
|
NM_001256545.2(MEGF10):c.974A>G (p.Gln325Arg)
|
rs764333715
|
0.00004
|
|
NM_001256850.1(TTN):c.33664+8A>G
|
rs775606653
|
0.00004
|
|
NM_001256850.1(TTN):c.35189-4A>G
|
rs781589169
|
0.00004
|
|
NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn)
|
rs745406517
|
0.00004
|
|
NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys)
|
rs748104690
|
0.00004
|
|
NM_001267550.2(TTN):c.10050G>A (p.Pro3350=)
|
rs759936737
|
0.00004
|
|
NM_001267550.2(TTN):c.100766-9dup
|
rs202238743
|
0.00004
|
|
NM_001267550.2(TTN):c.100826G>A (p.Arg33609Gln)
|
rs771243505
|
0.00004
|
|
NM_001267550.2(TTN):c.101037G>A (p.Gln33679=)
|
rs377190399
|
0.00004
|
|
NM_001267550.2(TTN):c.101236C>T (p.Arg33746Cys)
|
rs199594729
|
0.00004
|
|
NM_001267550.2(TTN):c.10127C>T (p.Ser3376Leu)
|
rs781368765
|
0.00004
|
|
NM_001267550.2(TTN):c.10128G>A (p.Ser3376=)
|
rs755262343
|
0.00004
|
|
NM_001267550.2(TTN):c.101707C>T (p.Arg33903Cys)
|
rs772574722
|
0.00004
|
|
NM_001267550.2(TTN):c.101822G>C (p.Arg33941Thr)
|
rs762498249
|
0.00004
|
|
NM_001267550.2(TTN):c.101953G>C (p.Glu33985Gln)
|
rs534613934
|
0.00004
|
|
NM_001267550.2(TTN):c.102272G>A (p.Arg34091Gln)
|
rs763708375
|
0.00004
|
|
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)
|
rs757918924
|
0.00004
|
|
NM_001267550.2(TTN):c.102549C>T (p.Tyr34183=)
|
rs761394437
|
0.00004
|
|
NM_001267550.2(TTN):c.102827G>A (p.Arg34276Gln)
|
rs199932621
|
0.00004
|
|
NM_001267550.2(TTN):c.102966T>C (p.Ser34322=)
|
rs200172231
|
0.00004
|
|
NM_001267550.2(TTN):c.10304-17G>T
|
rs1273259781
|
0.00004
|
|
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr)
|
rs751914956
|
0.00004
|
|
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)
|
rs370618537
|
0.00004
|
|
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr)
|
rs727505196
|
0.00004
|
|
NM_001267550.2(TTN):c.104204C>T (p.Thr34735Met)
|
rs755986938
|
0.00004
|
|
NM_001267550.2(TTN):c.104262G>A (p.Ala34754=)
|
rs571631837
|
0.00004
|
|
NM_001267550.2(TTN):c.104333C>T (p.Thr34778Met)
|
rs762158917
|
0.00004
|
|
NM_001267550.2(TTN):c.104575C>T (p.Arg34859Trp)
|
rs879243057
|
0.00004
|
|
NM_001267550.2(TTN):c.104694A>C (p.Arg34898Ser)
|
rs755502219
|
0.00004
|
|
NM_001267550.2(TTN):c.104893G>C (p.Val34965Leu)
|
rs886042785
|
0.00004
|
|
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met)
|
rs368945564
|
0.00004
|
|
NM_001267550.2(TTN):c.105135T>C (p.Asp35045=)
|
rs756434452
|
0.00004
|
|
NM_001267550.2(TTN):c.105336G>A (p.Lys35112=)
|
rs546048021
|
0.00004
|
|
NM_001267550.2(TTN):c.105505C>T (p.Leu35169=)
|
rs746050101
|
0.00004
|
|
NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile)
|
rs774524898
|
0.00004
|
|
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala)
|
rs771136390
|
0.00004
|
|
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln)
|
rs530537991
|
0.00004
|
|
NM_001267550.2(TTN):c.106385A>G (p.Gln35462Arg)
|
rs376392819
|
0.00004
|
|
NM_001267550.2(TTN):c.106531+6T>C
|
rs772189154
|
0.00004
|
|
NM_001267550.2(TTN):c.10679-10G>C
|
rs397517832
|
0.00004
|
|
NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile)
|
rs754459138
|
0.00004
|
|
NM_001267550.2(TTN):c.106975G>A (p.Asp35659Asn)
|
rs878992336
|
0.00004
|
|
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala)
|
rs374859388
|
0.00004
|
|
NM_001267550.2(TTN):c.11066T>C (p.Ile3689Thr)
|
rs527924868
|
0.00004
|
|
NM_001267550.2(TTN):c.11076C>T (p.Thr3692=)
|
rs201396224
|
0.00004
|
|
NM_001267550.2(TTN):c.11613C>T (p.Asp3871=)
|
rs781329648
|
0.00004
|
|
NM_001267550.2(TTN):c.11808T>C (p.Cys3936=)
|
rs764865773
|
0.00004
|
|
NM_001267550.2(TTN):c.11843G>A (p.Arg3948His)
|
rs775618077
|
0.00004
|
|
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=)
|
rs727503660
|
0.00004
|
|
NM_001267550.2(TTN):c.12369C>T (p.Leu4123=)
|
rs372053333
|
0.00004
|
|
NM_001267550.2(TTN):c.12845T>A (p.Ile4282Asn)
|
rs747907234
|
0.00004
|
|
NM_001267550.2(TTN):c.13089C>T (p.Pro4363=)
|
rs555324138
|
0.00004
|
|
NM_001267550.2(TTN):c.13585C>T (p.Leu4529=)
|
rs372984881
|
0.00004
|
|
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met)
|
rs201046911
|
0.00004
|
|
NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter)
|
rs775072385
|
0.00004
|
|
NM_001267550.2(TTN):c.13779A>C (p.Ile4593=)
|
rs1232179683
|
0.00004
|
|
NM_001267550.2(TTN):c.13829C>G (p.Thr4610Arg)
|
rs748210214
|
0.00004
|
|
NM_001267550.2(TTN):c.1398+9G>A
|
rs368350210
|
0.00004
|
|
NM_001267550.2(TTN):c.14141G>A (p.Gly4714Asp)
|
rs750125429
|
0.00004
|
|
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln)
|
rs202017278
|
0.00004
|
|
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr)
|
rs34337578
|
0.00004
|
|
NM_001267550.2(TTN):c.15500C>T (p.Pro5167Leu)
|
rs730880237
|
0.00004
|
|
NM_001267550.2(TTN):c.15561G>A (p.Leu5187=)
|
rs779159076
|
0.00004
|
|
NM_001267550.2(TTN):c.15749C>T (p.Thr5250Ile)
|
rs759384825
|
0.00004
|
|
NM_001267550.2(TTN):c.15822A>T (p.Ala5274=)
|
rs779456916
|
0.00004
|
|
NM_001267550.2(TTN):c.15831C>T (p.Pro5277=)
|
rs780784090
|
0.00004
|
|
NM_001267550.2(TTN):c.15947C>T (p.Ala5316Val)
|
rs879242937
|
0.00004
|
|
NM_001267550.2(TTN):c.15978C>T (p.His5326=)
|
rs397517482
|
0.00004
|
|
NM_001267550.2(TTN):c.16010A>G (p.Asn5337Ser)
|
rs752924679
|
0.00004
|
|
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=)
|
rs376820575
|
0.00004
|
|
NM_001267550.2(TTN):c.16118C>A (p.Thr5373Asn)
|
rs1057103177
|
0.00004
|
|
NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn)
|
rs774503024
|
0.00004
|
|
NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn)
|
rs794727755
|
0.00004
|
|
NM_001267550.2(TTN):c.1640A>G (p.Gln547Arg)
|
rs774937703
|
0.00004
|
|
NM_001267550.2(TTN):c.16961T>G (p.Val5654Gly)
|
rs763581306
|
0.00004
|
|
NM_001267550.2(TTN):c.16989T>C (p.Thr5663=)
|
rs879099217
|
0.00004
|
|
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His)
|
rs548015673
|
0.00004
|
|
NM_001267550.2(TTN):c.18173G>A (p.Arg6058His)
|
rs376012117
|
0.00004
|
|
NM_001267550.2(TTN):c.18297C>G (p.Leu6099=)
|
rs764712226
|
0.00004
|
|
NM_001267550.2(TTN):c.18485C>T (p.Thr6162Ile)
|
rs367685188
|
0.00004
|
|
NM_001267550.2(TTN):c.18528T>C (p.Tyr6176=)
|
rs375408819
|
0.00004
|
|
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)
|
rs377556808
|
0.00004
|
|
NM_001267550.2(TTN):c.185G>A (p.Arg62His)
|
rs758169489
|
0.00004
|
|
NM_001267550.2(TTN):c.18621T>G (p.Pro6207=)
|
rs752324971
|
0.00004
|
|
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys)
|
rs72648948
|
0.00004
|
|
NM_001267550.2(TTN):c.18681G>A (p.Pro6227=)
|
rs372273496
|
0.00004
|
|
NM_001267550.2(TTN):c.18719G>A (p.Arg6240Gln)
|
rs761993856
|
0.00004
|
|
NM_001267550.2(TTN):c.18942C>T (p.Thr6314=)
|
rs572285982
|
0.00004
|
|
NM_001267550.2(TTN):c.18978A>G (p.Leu6326=)
|
rs1315197288
|
0.00004
|
|
NM_001267550.2(TTN):c.19148-19A>G
|
rs760577918
|
0.00004
|
|
NM_001267550.2(TTN):c.1914A>G (p.Glu638=)
|
rs727504691
|
0.00004
|
|
NM_001267550.2(TTN):c.19356C>T (p.Ser6452=)
|
rs369275615
|
0.00004
|
|
NM_001267550.2(TTN):c.19377G>A (p.Val6459=)
|
rs371652207
|
0.00004
|
|
NM_001267550.2(TTN):c.1953C>T (p.Ala651=)
|
rs778742098
|
0.00004
|
|
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=)
|
rs372654116
|
0.00004
|
|
NM_001267550.2(TTN):c.19770A>G (p.Thr6590=)
|
rs775289296
|
0.00004
|
|
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln)
|
rs202022304
|
0.00004
|
|
NM_001267550.2(TTN):c.20292C>T (p.Ser6764=)
|
rs369713073
|
0.00004
|
|
NM_001267550.2(TTN):c.20868G>A (p.Pro6956=)
|
rs367929968
|
0.00004
|
|
NM_001267550.2(TTN):c.20874G>A (p.Thr6958=)
|
rs765956215
|
0.00004
|
|
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=)
|
rs727504579
|
0.00004
|
|
NM_001267550.2(TTN):c.21099T>G (p.Ala7033=)
|
rs377748909
|
0.00004
|
|
NM_001267550.2(TTN):c.21777T>A (p.Ile7259=)
|
rs727505220
|
0.00004
|
|
NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser)
|
rs200954184
|
0.00004
|
|
NM_001267550.2(TTN):c.21906C>T (p.Cys7302=)
|
rs370548693
|
0.00004
|
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
|
NM_001267550.2(TTN):c.22395A>G (p.Leu7465=)
|
rs753744867
|
0.00004
|
|
NM_001267550.2(TTN):c.22443T>G (p.Thr7481=)
|
rs762944124
|
0.00004
|
|
NM_001267550.2(TTN):c.22952A>G (p.Glu7651Gly)
|
rs1461872954
|
0.00004
|
|
NM_001267550.2(TTN):c.22956T>C (p.Ser7652=)
|
rs1004007215
|
0.00004
|
|
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=)
|
rs191854953
|
0.00004
|
|
NM_001267550.2(TTN):c.2358C>G (p.His786Gln)
|
rs199507913
|
0.00004
|
|
NM_001267550.2(TTN):c.23685C>T (p.Pro7895=)
|
rs755534186
|
0.00004
|
|
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn)
|
rs766935265
|
0.00004
|
|
NM_001267550.2(TTN):c.23901T>G (p.Val7967=)
|
rs550995785
|
0.00004
|
|
NM_001267550.2(TTN):c.24227-15C>T
|
rs397517505
|
0.00004
|
|
NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn)
|
rs397517506
|
0.00004
|
|
NM_001267550.2(TTN):c.24730C>T (p.Leu8244=)
|
rs879037219
|
0.00004
|
|
NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val)
|
rs371322658
|
0.00004
|
|
NM_001267550.2(TTN):c.24792G>A (p.Pro8264=)
|
rs767137418
|
0.00004
|
|
NM_001267550.2(TTN):c.24954T>C (p.Val8318=)
|
rs766971704
|
0.00004
|
|
NM_001267550.2(TTN):c.25005A>C (p.Ser8335=)
|
rs879229692
|
0.00004
|
|
NM_001267550.2(TTN):c.26148A>G (p.Lys8716=)
|
rs778772942
|
0.00004
|
|
NM_001267550.2(TTN):c.26463C>T (p.Phe8821=)
|
rs551600321
|
0.00004
|
|
NM_001267550.2(TTN):c.27282C>T (p.Ser9094=)
|
rs1220555799
|
0.00004
|
|
NM_001267550.2(TTN):c.27969C>T (p.Ala9323=)
|
rs773102635
|
0.00004
|
|
NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp)
|
rs190600127
|
0.00004
|
|
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln)
|
rs570608843
|
0.00004
|
|
NM_001267550.2(TTN):c.28104A>G (p.Ala9368=)
|
rs886055291
|
0.00004
|
|
NM_001267550.2(TTN):c.28175-6T>C
|
rs769065211
|
0.00004
|
|
NM_001267550.2(TTN):c.28680C>T (p.Asp9560=)
|
rs377713076
|
0.00004
|
|
NM_001267550.2(TTN):c.28734G>A (p.Thr9578=)
|
rs369319371
|
0.00004
|
|
NM_001267550.2(TTN):c.28754-7A>T
|
rs398124445
|
0.00004
|
|
NM_001267550.2(TTN):c.2883C>T (p.Thr961=)
|
rs397517541
|
0.00004
|
|
NM_001267550.2(TTN):c.29015C>T (p.Thr9672Ile)
|
rs769996978
|
0.00004
|
|
NM_001267550.2(TTN):c.29142T>C (p.Thr9714=)
|
rs773838077
|
0.00004
|
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
|
NM_001267550.2(TTN):c.29231G>A (p.Arg9744His)
|
rs760305440
|
0.00004
|
|
NM_001267550.2(TTN):c.29421-19del
|
rs1064795938
|
0.00004
|
|
NM_001267550.2(TTN):c.29605-4T>C
|
rs765136501
|
0.00004
|
|
NM_001267550.2(TTN):c.29694+20T>C
|
rs779986851
|
0.00004
|
|
NM_001267550.2(TTN):c.29868T>C (p.His9956=)
|
rs373953903
|
0.00004
|
|
NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr)
|
rs201635835
|
0.00004
|
|
NM_001267550.2(TTN):c.30507G>A (p.Thr10169=)
|
rs376088498
|
0.00004
|
|
NM_001267550.2(TTN):c.30512-16T>A
|
rs1553874765
|
0.00004
|
|
NM_001267550.2(TTN):c.30598+8C>T
|
rs777799710
|
0.00004
|
|
NM_001267550.2(TTN):c.30642A>G (p.Pro10214=)
|
rs397517533
|
0.00004
|
|
NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr)
|
rs369094355
|
0.00004
|
|
NM_001267550.2(TTN):c.30941T>C (p.Ile10314Thr)
|
rs886055288
|
0.00004
|
|
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys)
|
rs772195716
|
0.00004
|
|
NM_001267550.2(TTN):c.31427-20G>A
|
rs765355667
|
0.00004
|
|
NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr)
|
rs769226745
|
0.00004
|
|
NM_001267550.2(TTN):c.31518C>T (p.Pro10506=)
|
rs746912694
|
0.00004
|
|
NM_001267550.2(TTN):c.31599T>C (p.Pro10533=)
|
rs994535522
|
0.00004
|
|
NM_001267550.2(TTN):c.31679-20C>A
|
rs781223705
|
0.00004
|
|
NM_001267550.2(TTN):c.31701C>T (p.Pro10567=)
|
rs779404719
|
0.00004
|
|
NM_001267550.2(TTN):c.31762+15A>G
|
rs752358139
|
0.00004
|
|
NM_001267550.2(TTN):c.31821G>T (p.Lys10607Asn)
|
rs746722623
|
0.00004
|
|
NM_001267550.2(TTN):c.32095+1G>A
|
rs727503636
|
0.00004
|
|
NM_001267550.2(TTN):c.32194G>A (p.Glu10732Lys)
|
rs374348069
|
0.00004
|
|
NM_001267550.2(TTN):c.3240C>T (p.Ala1080=)
|
rs142170959
|
0.00004
|
|
NM_001267550.2(TTN):c.32661T>C (p.Ile10887=)
|
rs747161663
|
0.00004
|
|
NM_001267550.2(TTN):c.32722+17A>G
|
rs749875797
|
0.00004
|
|
NM_001267550.2(TTN):c.32722+8C>T
|
rs765936606
|
0.00004
|
|
NM_001267550.2(TTN):c.32735C>T (p.Pro10912Leu)
|
rs781655223
|
0.00004
|
|
NM_001267550.2(TTN):c.32807-20T>C
|
rs958650240
|
0.00004
|
|
NM_001267550.2(TTN):c.33015A>C (p.Pro11005=)
|
rs369298371
|
0.00004
|
|
NM_001267550.2(TTN):c.3319G>A (p.Gly1107Ser)
|
rs767741769
|
0.00004
|
|
NM_001267550.2(TTN):c.33664+20C>T
|
rs762601689
|
0.00004
|
|
NM_001267550.2(TTN):c.33826+4C>T
|
rs750851792
|
0.00004
|
|
NM_001267550.2(TTN):c.34027G>A (p.Val11343Ile)
|
rs369025108
|
0.00004
|
|
NM_001267550.2(TTN):c.34379-14T>C
|
rs727505341
|
0.00004
|
|
NM_001267550.2(TTN):c.34735C>T (p.Pro11579Ser)
|
rs754511830
|
0.00004
|
|
NM_001267550.2(TTN):c.34772C>T (p.Ala11591Val)
|
rs72650052
|
0.00004
|
|
NM_001267550.2(TTN):c.34786+3A>G
|
rs1417271874
|
0.00004
|
|
NM_001267550.2(TTN):c.34824T>C (p.Pro11608=)
|
rs373476883
|
0.00004
|
|
NM_001267550.2(TTN):c.34930+2T>C
|
rs749252830
|
0.00004
|
|
NM_001267550.2(TTN):c.34952A>C (p.Lys11651Thr)
|
rs373656002
|
0.00004
|
|
NM_001267550.2(TTN):c.35194G>A (p.Glu11732Lys)
|
rs939014361
|
0.00004
|
|
NM_001267550.2(TTN):c.35268G>A (p.Pro11756=)
|
rs778338717
|
0.00004
|
|
NM_001267550.2(TTN):c.35312C>T (p.Pro11771Leu)
|
rs373508919
|
0.00004
|
|
NM_001267550.2(TTN):c.35471-10A>G
|
rs780849590
|
0.00004
|
|
NM_001267550.2(TTN):c.3549C>T (p.Ser1183=)
|
rs764819788
|
0.00004
|
|
NM_001267550.2(TTN):c.35959+13C>T
|
rs776302840
|
0.00004
|
|
NM_001267550.2(TTN):c.36158C>T (p.Thr12053Met)
|
rs761169549
|
0.00004
|
|
NM_001267550.2(TTN):c.36174C>G (p.Leu12058=)
|
rs878910324
|
0.00004
|
|
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter)
|
rs1384922524
|
0.00004
|
|
NM_001267550.2(TTN):c.36365-9T>C
|
rs772349629
|
0.00004
|
|
NM_001267550.2(TTN):c.36532+11C>A
|
rs768495522
|
0.00004
|
|
NM_001267550.2(TTN):c.36802C>G (p.Pro12268Ala)
|
rs1461810893
|
0.00004
|
|
NM_001267550.2(TTN):c.37496A>C (p.Lys12499Thr)
|
rs1367017667
|
0.00004
|
|
NM_001267550.2(TTN):c.37503G>A (p.Pro12501=)
|
rs1199981167
|
0.00004
|
|
NM_001267550.2(TTN):c.37938A>G (p.Glu12646=)
|
rs1262121833
|
0.00004
|
|
NM_001267550.2(TTN):c.38109G>A (p.Val12703=)
|
rs1255997161
|
0.00004
|
|
NM_001267550.2(TTN):c.38206+10A>G
|
rs1216357373
|
0.00004
|
|
NM_001267550.2(TTN):c.38226G>C (p.Pro12742=)
|
rs965565085
|
0.00004
|
|
NM_001267550.2(TTN):c.38256G>A (p.Pro12752=)
|
rs794728014
|
0.00004
|
|
NM_001267550.2(TTN):c.38321T>C (p.Val12774Ala)
|
rs747414237
|
0.00004
|
|
NM_001267550.2(TTN):c.39128-12T>A
|
rs779588688
|
0.00004
|
|
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile)
|
rs777119867
|
0.00004
|
|
NM_001267550.2(TTN):c.39276G>A (p.Pro13092=)
|
rs369002632
|
0.00004
|
|
NM_001267550.2(TTN):c.39295+16T>C
|
rs371747911
|
0.00004
|
|
NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly)
|
rs190461403
|
0.00004
|
|
NM_001267550.2(TTN):c.39709+14C>T
|
rs760314415
|
0.00004
|
|
NM_001267550.2(TTN):c.39818-9T>C
|
rs368834130
|
0.00004
|
|
NM_001267550.2(TTN):c.39887C>G (p.Pro13296Arg)
|
rs760464072
|
0.00004
|
|
NM_001267550.2(TTN):c.40057+9C>T
|
rs181316033
|
0.00004
|
|
NM_001267550.2(TTN):c.40109T>C (p.Ile13370Thr)
|
rs904655100
|
0.00004
|
|
NM_001267550.2(TTN):c.40297+8A>G
|
rs192127273
|
0.00004
|
|
NM_001267550.2(TTN):c.40409-1G>A
|
rs1285884266
|
0.00004
|
|
NM_001267550.2(TTN):c.40478-13A>G
|
rs753147480
|
0.00004
|
|
NM_001267550.2(TTN):c.40558+1G>A
|
rs368219776
|
0.00004
|
|
NM_001267550.2(TTN):c.40636C>A (p.Pro13546Thr)
|
rs1393076582
|
0.00004
|
|
NM_001267550.2(TTN):c.41262T>C (p.Gly13754=)
|
rs769308483
|
0.00004
|
|
NM_001267550.2(TTN):c.41309C>T (p.Thr13770Met)
|
rs774214497
|
0.00004
|
|
NM_001267550.2(TTN):c.41329+9T>C
|
rs779075177
|
0.00004
|
|
NM_001267550.2(TTN):c.41744C>T (p.Ala13915Val)
|
rs371426048
|
0.00004
|
|
NM_001267550.2(TTN):c.41908C>T (p.Pro13970Ser)
|
rs189799340
|
0.00004
|
|
NM_001267550.2(TTN):c.42123A>G (p.Ala14041=)
|
rs879153417
|
0.00004
|
|
NM_001267550.2(TTN):c.4239T>G (p.Ser1413=)
|
rs372187889
|
0.00004
|
|
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=)
|
rs368155350
|
0.00004
|
|
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val)
|
rs746063269
|
0.00004
|
|
NM_001267550.2(TTN):c.4284T>A (p.Ser1428=)
|
rs771454835
|
0.00004
|
|
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)
|
rs368572799
|
0.00004
|
|
NM_001267550.2(TTN):c.42873G>A (p.Ala14291=)
|
rs370216450
|
0.00004
|
|
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr)
|
rs397517571
|
0.00004
|
|
NM_001267550.2(TTN):c.43045G>A (p.Gly14349Ser)
|
rs781452930
|
0.00004
|
|
NM_001267550.2(TTN):c.43214-16T>C
|
rs760520019
|
0.00004
|
|
NM_001267550.2(TTN):c.43638C>T (p.Asp14546=)
|
rs764977967
|
0.00004
|
|
NM_001267550.2(TTN):c.43748-9T>G
|
rs1048557788
|
0.00004
|
|
NM_001267550.2(TTN):c.44379A>G (p.Pro14793=)
|
rs371741319
|
0.00004
|
|
NM_001267550.2(TTN):c.44418C>T (p.Ser14806=)
|
rs368005198
|
0.00004
|
|
NM_001267550.2(TTN):c.44435G>A (p.Arg14812His)
|
rs375574483
|
0.00004
|
|
NM_001267550.2(TTN):c.44691G>A (p.Lys14897=)
|
rs755769210
|
0.00004
|
|
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=)
|
rs781392140
|
0.00004
|
|
NM_001267550.2(TTN):c.45128G>A (p.Ser15043Asn)
|
rs376144178
|
0.00004
|
|
NM_001267550.2(TTN):c.45177A>G (p.Ala15059=)
|
rs769716636
|
0.00004
|
|
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr)
|
rs184078045
|
0.00004
|
|
NM_001267550.2(TTN):c.45652C>T (p.Arg15218Trp)
|
rs371621174
|
0.00004
|
|
NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe)
|
rs72677226
|
0.00004
|
|
NM_001267550.2(TTN):c.46037G>A (p.Arg15346His)
|
rs367996763
|
0.00004
|
|
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn)
|
rs370813526
|
0.00004
|
|
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=)
|
rs147703145
|
0.00004
|
|
NM_001267550.2(TTN):c.4645+12T>C
|
rs776972037
|
0.00004
|
|
NM_001267550.2(TTN):c.4646-7C>A
|
rs758516007
|
0.00004
|
|
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe)
|
rs371299188
|
0.00004
|
|
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg)
|
rs761815745
|
0.00004
|
|
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys)
|
rs780334981
|
0.00004
|
|
NM_001267550.2(TTN):c.47269+18A>C
|
rs371778857
|
0.00004
|
|
NM_001267550.2(TTN):c.47490T>C (p.Ser15830=)
|
rs1483112146
|
0.00004
|
|
NM_001267550.2(TTN):c.4764A>G (p.Val1588=)
|
rs1410819176
|
0.00004
|
|
NM_001267550.2(TTN):c.47697C>T (p.Cys15899=)
|
rs373040154
|
0.00004
|
|
NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys)
|
rs772625773
|
0.00004
|
|
NM_001267550.2(TTN):c.47761-4G>A
|
rs564918195
|
0.00004
|
|
NM_001267550.2(TTN):c.48270C>T (p.Tyr16090=)
|
rs397517592
|
0.00004
|
|
NM_001267550.2(TTN):c.49008G>A (p.Val16336=)
|
rs781078888
|
0.00004
|
|
NM_001267550.2(TTN):c.49049-16G>A
|
rs369011743
|
0.00004
|
|
NM_001267550.2(TTN):c.49128C>T (p.Arg16376=)
|
rs779532675
|
0.00004
|
|
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)
|
rs376188859
|
0.00004
|
|
NM_001267550.2(TTN):c.49698A>G (p.Thr16566=)
|
rs778112130
|
0.00004
|
|
NM_001267550.2(TTN):c.49948+19C>G
|
rs754504176
|
0.00004
|
|
NM_001267550.2(TTN):c.50954C>T (p.Thr16985Ile)
|
rs116765281
|
0.00004
|
|
NM_001267550.2(TTN):c.51066C>T (p.Ala17022=)
|
rs762091746
|
0.00004
|
|
NM_001267550.2(TTN):c.51175A>G (p.Ile17059Val)
|
rs188395969
|
0.00004
|
|
NM_001267550.2(TTN):c.51249C>A (p.Val17083=)
|
rs377342233
|
0.00004
|
|
NM_001267550.2(TTN):c.5132C>T (p.Ser1711Phe)
|
rs397517641
|
0.00004
|
|
NM_001267550.2(TTN):c.51483G>A (p.Ala17161=)
|
rs397517604
|
0.00004
|
|
NM_001267550.2(TTN):c.51606A>G (p.Val17202=)
|
rs375685343
|
0.00004
|
|
NM_001267550.2(TTN):c.51735C>T (p.Pro17245=)
|
rs747557917
|
0.00004
|
|
NM_001267550.2(TTN):c.51841T>C (p.Trp17281Arg)
|
rs368846015
|
0.00004
|
|
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His)
|
rs150737838
|
0.00004
|
|
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser)
|
rs201904897
|
0.00004
|
|
NM_001267550.2(TTN):c.52659A>G (p.Gly17553=)
|
rs779828473
|
0.00004
|
|
NM_001267550.2(TTN):c.52863G>A (p.Glu17621=)
|
rs368606067
|
0.00004
|
|
NM_001267550.2(TTN):c.52908G>C (p.Glu17636Asp)
|
rs748175453
|
0.00004
|
|
NM_001267550.2(TTN):c.53069T>C (p.Leu17690Pro)
|
rs370469461
|
0.00004
|
|
NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val)
|
rs773447539
|
0.00004
|
|
NM_001267550.2(TTN):c.53541T>C (p.Pro17847=)
|
rs950128827
|
0.00004
|
|
NM_001267550.2(TTN):c.53561T>A (p.Ile17854Asn)
|
rs375796420
|
0.00004
|
|
NM_001267550.2(TTN):c.53581+12G>T
|
rs535926889
|
0.00004
|
|
NM_001267550.2(TTN):c.54091A>G (p.Ser18031Gly)
|
rs397517615
|
0.00004
|
|
NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn)
|
rs765148928
|
0.00004
|
|
NM_001267550.2(TTN):c.54360T>C (p.Thr18120=)
|
rs749248039
|
0.00004
|
|
NM_001267550.2(TTN):c.54382-17G>T
|
rs567215912
|
0.00004
|
|
NM_001267550.2(TTN):c.54477C>G (p.Val18159=)
|
rs374335905
|
0.00004
|
|
NM_001267550.2(TTN):c.54813T>G (p.Phe18271Leu)
|
rs370583314
|
0.00004
|
|
NM_001267550.2(TTN):c.55383C>A (p.Ala18461=)
|
rs369861620
|
0.00004
|
|
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)
|
rs140914855
|
0.00004
|
|
NM_001267550.2(TTN):c.56199C>G (p.Leu18733=)
|
rs766306616
|
0.00004
|
|
NM_001267550.2(TTN):c.56534C>T (p.Thr18845Met)
|
rs371571153
|
0.00004
|
|
NM_001267550.2(TTN):c.56581G>A (p.Ala18861Thr)
|
rs368419410
|
0.00004
|
|
NM_001267550.2(TTN):c.56640C>A (p.Asn18880Lys)
|
rs200544272
|
0.00004
|
|
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met)
|
rs370629962
|
0.00004
|
|
NM_001267550.2(TTN):c.56872G>A (p.Asp18958Asn)
|
rs576158850
|
0.00004
|
|
NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp)
|
rs556286196
|
0.00004
|
|
NM_001267550.2(TTN):c.57112-11T>C
|
rs553667328
|
0.00004
|
|
NM_001267550.2(TTN):c.57501T>C (p.Asn19167=)
|
rs780536141
|
0.00004
|
|
NM_001267550.2(TTN):c.58008T>C (p.Asn19336=)
|
rs770525693
|
0.00004
|
|
NM_001267550.2(TTN):c.58150+16A>G
|
rs374351487
|
0.00004
|
|
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile)
|
rs397517636
|
0.00004
|
|
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu)
|
rs374118468
|
0.00004
|
|
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp)
|
rs397517640
|
0.00004
|
|
NM_001267550.2(TTN):c.59235C>T (p.Thr19745=)
|
rs180965342
|
0.00004
|
|
NM_001267550.2(TTN):c.59345-13C>T
|
rs761986550
|
0.00004
|
|
NM_001267550.2(TTN):c.597A>G (p.Val199=)
|
rs144214844
|
0.00004
|
|
NM_001267550.2(TTN):c.5982G>A (p.Ser1994=)
|
rs573823772
|
0.00004
|
|
NM_001267550.2(TTN):c.59926+13C>T
|
rs754345312
|
0.00004
|
|
NM_001267550.2(TTN):c.60138T>C (p.Tyr20046=)
|
rs1215527173
|
0.00004
|
|
NM_001267550.2(TTN):c.6040A>G (p.Thr2014Ala)
|
rs180672509
|
0.00004
|
|
NM_001267550.2(TTN):c.60489C>T (p.Ala20163=)
|
rs775192641
|
0.00004
|
|
NM_001267550.2(TTN):c.60786T>C (p.Pro20262=)
|
rs1217782958
|
0.00004
|
|
NM_001267550.2(TTN):c.60869T>C (p.Val20290Ala)
|
rs550655820
|
0.00004
|
|
NM_001267550.2(TTN):c.60921T>C (p.Tyr20307=)
|
rs765532912
|
0.00004
|
|
NM_001267550.2(TTN):c.60928C>T (p.Arg20310Cys)
|
rs200898955
|
0.00004
|
|
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe)
|
rs377529060
|
0.00004
|
|
NM_001267550.2(TTN):c.61326G>A (p.Glu20442=)
|
rs1237051098
|
0.00004
|
|
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=)
|
rs143265948
|
0.00004
|
|
NM_001267550.2(TTN):c.61698C>T (p.Val20566=)
|
rs540129161
|
0.00004
|
|
NM_001267550.2(TTN):c.61758T>C (p.Cys20586=)
|
rs879237820
|
0.00004
|
|
NM_001267550.2(TTN):c.62097A>G (p.Pro20699=)
|
rs774995592
|
0.00004
|
|
NM_001267550.2(TTN):c.62479T>C (p.Ser20827Pro)
|
rs1001628726
|
0.00004
|
|
NM_001267550.2(TTN):c.62486T>G (p.Phe20829Cys)
|
rs878916429
|
0.00004
|
|
NM_001267550.2(TTN):c.62547G>A (p.Thr20849=)
|
rs368969893
|
0.00004
|
|
NM_001267550.2(TTN):c.62673T>C (p.Asp20891=)
|
rs374354363
|
0.00004
|
|
NM_001267550.2(TTN):c.62802T>C (p.Tyr20934=)
|
rs762414876
|
0.00004
|
|
NM_001267550.2(TTN):c.62816G>A (p.Arg20939His)
|
rs777095470
|
0.00004
|
|
NM_001267550.2(TTN):c.63458T>C (p.Ile21153Thr)
|
rs772411127
|
0.00004
|
|
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys)
|
rs374727686
|
0.00004
|
|
NM_001267550.2(TTN):c.63794-14A>G
|
rs777146728
|
0.00004
|
|
NM_001267550.2(TTN):c.6387C>T (p.Pro2129=)
|
rs140253822
|
0.00004
|
|
NM_001267550.2(TTN):c.64411C>T (p.Leu21471Phe)
|
rs774609456
|
0.00004
|
|
NM_001267550.2(TTN):c.64467T>C (p.His21489=)
|
rs533088470
|
0.00004
|
|
NM_001267550.2(TTN):c.64681G>A (p.Gly21561Ser)
|
rs200355808
|
0.00004
|
|
NM_001267550.2(TTN):c.64761C>T (p.Asp21587=)
|
rs748386416
|
0.00004
|
|
NM_001267550.2(TTN):c.6489C>T (p.His2163=)
|
rs762045402
|
0.00004
|
|
NM_001267550.2(TTN):c.64959G>A (p.Ala21653=)
|
rs776272431
|
0.00004
|
|
NM_001267550.2(TTN):c.6508+12G>A
|
rs542421479
|
0.00004
|
|
NM_001267550.2(TTN):c.65523C>T (p.Asn21841=)
|
rs749119647
|
0.00004
|
|
NM_001267550.2(TTN):c.65590G>C (p.Asp21864His)
|
rs375149365
|
0.00004
|
|
NM_001267550.2(TTN):c.65782C>T (p.Arg21928Trp)
|
rs371856109
|
0.00004
|
|
NM_001267550.2(TTN):c.65864-12T>C
|
rs748522098
|
0.00004
|
|
NM_001267550.2(TTN):c.65986C>T (p.Arg21996Cys)
|
rs577114038
|
0.00004
|
|
NM_001267550.2(TTN):c.66187G>C (p.Val22063Leu)
|
rs768057735
|
0.00004
|
|
NM_001267550.2(TTN):c.66288A>G (p.Glu22096=)
|
rs368297582
|
0.00004
|
|
NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg)
|
rs757537780
|
0.00004
|
|
NM_001267550.2(TTN):c.66778G>C (p.Glu22260Gln)
|
rs553988103
|
0.00004
|
|
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg)
|
rs372388682
|
0.00004
|
|
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met)
|
rs369257896
|
0.00004
|
|
NM_001267550.2(TTN):c.67348+11G>C
|
rs587780982
|
0.00004
|
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
|
NM_001267550.2(TTN):c.6770C>G (p.Thr2257Ser)
|
rs755999681
|
0.00004
|
|
NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile)
|
rs775731759
|
0.00004
|
|
NM_001267550.2(TTN):c.678A>G (p.Glu226=)
|
rs1001744835
|
0.00004
|
|
NM_001267550.2(TTN):c.68007G>A (p.Lys22669=)
|
rs755897447
|
0.00004
|
|
NM_001267550.2(TTN):c.68303A>G (p.Lys22768Arg)
|
rs761210578
|
0.00004
|
|
NM_001267550.2(TTN):c.68391G>A (p.Pro22797=)
|
rs368985748
|
0.00004
|
|
NM_001267550.2(TTN):c.68496A>G (p.Pro22832=)
|
rs780449281
|
0.00004
|
|
NM_001267550.2(TTN):c.68528-15G>A
|
rs191517080
|
0.00004
|
|
NM_001267550.2(TTN):c.68599T>C (p.Tyr22867His)
|
rs368484355
|
0.00004
|
|
NM_001267550.2(TTN):c.68824+19T>G
|
rs149606889
|
0.00004
|
|
NM_001267550.2(TTN):c.69045G>A (p.Ala23015=)
|
rs759122929
|
0.00004
|
|
NM_001267550.2(TTN):c.69194T>C (p.Leu23065Ser)
|
rs768535148
|
0.00004
|
|
NM_001267550.2(TTN):c.69412+8G>A
|
rs753461234
|
0.00004
|
|
NM_001267550.2(TTN):c.69657A>G (p.Arg23219=)
|
rs754933980
|
0.00004
|
|
NM_001267550.2(TTN):c.70036C>T (p.Leu23346=)
|
rs397517681
|
0.00004
|
|
NM_001267550.2(TTN):c.70404A>T (p.Thr23468=)
|
rs756467437
|
0.00004
|
|
NM_001267550.2(TTN):c.70424G>A (p.Arg23475His)
|
rs370257707
|
0.00004
|
|
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala)
|
rs369526268
|
0.00004
|
|
NM_001267550.2(TTN):c.70743C>T (p.His23581=)
|
rs375194057
|
0.00004
|
|
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)
|
rs397517687
|
0.00004
|
|
NM_001267550.2(TTN):c.70831G>A (p.Ala23611Thr)
|
rs373765469
|
0.00004
|
|
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)
|
rs377220635
|
0.00004
|
|
NM_001267550.2(TTN):c.70953C>T (p.Ile23651=)
|
rs756236085
|
0.00004
|
|
NM_001267550.2(TTN):c.70998A>G (p.Thr23666=)
|
rs767989384
|
0.00004
|
|
NM_001267550.2(TTN):c.71399G>A (p.Arg23800His)
|
rs537705563
|
0.00004
|
|
NM_001267550.2(TTN):c.71844T>C (p.Pro23948=)
|
rs750583121
|
0.00004
|
|
NM_001267550.2(TTN):c.72012T>C (p.Ala24004=)
|
rs746925988
|
0.00004
|
|
NM_001267550.2(TTN):c.72114G>A (p.Thr24038=)
|
rs768064912
|
0.00004
|
|
NM_001267550.2(TTN):c.72450T>C (p.Asp24150=)
|
rs779337350
|
0.00004
|
|
NM_001267550.2(TTN):c.72488G>A (p.Arg24163His)
|
rs374712231
|
0.00004
|
|
NM_001267550.2(TTN):c.72586C>T (p.Arg24196Cys)
|
rs185626486
|
0.00004
|
|
NM_001267550.2(TTN):c.73148C>T (p.Ser24383Leu)
|
rs368415251
|
0.00004
|
|
NM_001267550.2(TTN):c.73292A>T (p.Asp24431Val)
|
rs754343858
|
0.00004
|
|
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp)
|
rs567446185
|
0.00004
|
|
NM_001267550.2(TTN):c.73822G>A (p.Ala24608Thr)
|
rs750166986
|
0.00004
|
|
NM_001267550.2(TTN):c.73873T>C (p.Leu24625=)
|
rs545556079
|
0.00004
|
|
NM_001267550.2(TTN):c.73935C>A (p.Gly24645=)
|
rs375726644
|
0.00004
|
|
NM_001267550.2(TTN):c.7416T>C (p.Asp2472=)
|
rs763423885
|
0.00004
|
|
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala)
|
rs200723435
|
0.00004
|
|
NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile)
|
rs370070176
|
0.00004
|
|
NM_001267550.2(TTN):c.7594+17C>G
|
rs141299222
|
0.00004
|
|
NM_001267550.2(TTN):c.75969T>C (p.Val25323=)
|
rs368759398
|
0.00004
|
|
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser)
|
rs757343393
|
0.00004
|
|
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)
|
rs397517725
|
0.00004
|
|
NM_001267550.2(TTN):c.76527C>T (p.Asp25509=)
|
rs780539951
|
0.00004
|
|
NM_001267550.2(TTN):c.76661C>G (p.Ala25554Gly)
|
rs879087699
|
0.00004
|
|
NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala)
|
rs397517712
|
0.00004
|
|
NM_001267550.2(TTN):c.7815C>T (p.Tyr2605=)
|
rs184428451
|
0.00004
|
|
NM_001267550.2(TTN):c.7816G>A (p.Ala2606Thr)
|
rs375286376
|
0.00004
|
|
NM_001267550.2(TTN):c.78282C>G (p.Thr26094=)
|
rs778237170
|
0.00004
|
|
NM_001267550.2(TTN):c.78312A>G (p.Glu26104=)
|
rs761696313
|
0.00004
|
|
NM_001267550.2(TTN):c.7856-20G>T
|
rs770234398
|
0.00004
|
|
NM_001267550.2(TTN):c.78756T>C (p.Ile26252=)
|
rs372319281
|
0.00004
|
|
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=)
|
rs368270588
|
0.00004
|
|
NM_001267550.2(TTN):c.79155G>A (p.Val26385=)
|
rs377618488
|
0.00004
|
|
NM_001267550.2(TTN):c.79251G>C (p.Glu26417Asp)
|
rs369019463
|
0.00004
|
|
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His)
|
rs530507211
|
0.00004
|
|
NM_001267550.2(TTN):c.79969G>T (p.Asp26657Tyr)
|
rs781076407
|
0.00004
|
|
NM_001267550.2(TTN):c.80446G>A (p.Val26816Ile)
|
rs774092000
|
0.00004
|
|
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=)
|
rs748292845
|
0.00004
|
|
NM_001267550.2(TTN):c.807G>A (p.Pro269=)
|
rs779966449
|
0.00004
|
|
NM_001267550.2(TTN):c.80941C>T (p.Arg26981Trp)
|
rs779878975
|
0.00004
|
|
NM_001267550.2(TTN):c.80942G>A (p.Arg26981Gln)
|
rs768308408
|
0.00004
|
|
NM_001267550.2(TTN):c.81147T>C (p.Ala27049=)
|
rs765706611
|
0.00004
|
|
NM_001267550.2(TTN):c.81229G>A (p.Gly27077Arg)
|
rs878898668
|
0.00004
|
|
NM_001267550.2(TTN):c.81545T>A (p.Ile27182Asn)
|
rs373448447
|
0.00004
|
|
NM_001267550.2(TTN):c.81672C>T (p.Asn27224=)
|
rs767422816
|
0.00004
|
|
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu)
|
rs199670463
|
0.00004
|
|
NM_001267550.2(TTN):c.82179A>G (p.Pro27393=)
|
rs757171629
|
0.00004
|
|
NM_001267550.2(TTN):c.82474C>T (p.Arg27492Cys)
|
rs767221784
|
0.00004
|
|
NM_001267550.2(TTN):c.82485C>T (p.Asp27495=)
|
rs72648213
|
0.00004
|
|
NM_001267550.2(TTN):c.82606G>A (p.Glu27536Lys)
|
rs745974517
|
0.00004
|
|
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=)
|
rs557628408
|
0.00004
|
|
NM_001267550.2(TTN):c.83032G>A (p.Asp27678Asn)
|
rs781128731
|
0.00004
|
|
NM_001267550.2(TTN):c.83580G>A (p.Val27860=)
|
rs200096597
|
0.00004
|
|
NM_001267550.2(TTN):c.83733C>T (p.Ser27911=)
|
rs375442124
|
0.00004
|
|
NM_001267550.2(TTN):c.83821G>A (p.Glu27941Lys)
|
rs545954394
|
0.00004
|
|
NM_001267550.2(TTN):c.84188G>A (p.Arg28063His)
|
rs570847832
|
0.00004
|
|
NM_001267550.2(TTN):c.84383G>A (p.Arg28128His)
|
rs367596354
|
0.00004
|
|
NM_001267550.2(TTN):c.8494G>C (p.Val2832Leu)
|
rs375549179
|
0.00004
|
|
NM_001267550.2(TTN):c.85308C>T (p.Ala28436=)
|
rs765611726
|
0.00004
|
|
NM_001267550.2(TTN):c.85838C>T (p.Thr28613Ile)
|
rs368615862
|
0.00004
|
|
NM_001267550.2(TTN):c.8640G>A (p.Glu2880=)
|
rs879222360
|
0.00004
|
|
NM_001267550.2(TTN):c.86420G>A (p.Arg28807His)
|
rs375800916
|
0.00004
|
|
NM_001267550.2(TTN):c.86538A>T (p.Pro28846=)
|
rs747423090
|
0.00004
|
|
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=)
|
rs397517736
|
0.00004
|
|
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)
|
rs375565646
|
0.00004
|
|
NM_001267550.2(TTN):c.87006T>C (p.Val29002=)
|
rs761762773
|
0.00004
|
|
NM_001267550.2(TTN):c.87495C>T (p.Asp29165=)
|
rs371763584
|
0.00004
|
|
NM_001267550.2(TTN):c.87849A>G (p.Leu29283=)
|
rs777124377
|
0.00004
|
|
NM_001267550.2(TTN):c.8844G>A (p.Ser2948=)
|
rs531976829
|
0.00004
|
|
NM_001267550.2(TTN):c.88509C>T (p.Ala29503=)
|
rs776811363
|
0.00004
|
|
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys)
|
rs372360369
|
0.00004
|
|
NM_001267550.2(TTN):c.88566C>T (p.Ala29522=)
|
rs375562207
|
0.00004
|
|
NM_001267550.2(TTN):c.88666C>T (p.Arg29556Trp)
|
rs201657835
|
0.00004
|
|
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=)
|
rs376289479
|
0.00004
|
|
NM_001267550.2(TTN):c.89229C>T (p.Ile29743=)
|
rs376853821
|
0.00004
|
|
NM_001267550.2(TTN):c.89230G>A (p.Ala29744Thr)
|
rs201592005
|
0.00004
|
|
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=)
|
rs368525666
|
0.00004
|
|
NM_001267550.2(TTN):c.90237C>T (p.His30079=)
|
rs756663688
|
0.00004
|
|
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=)
|
rs727504439
|
0.00004
|
|
NM_001267550.2(TTN):c.9116C>T (p.Thr3039Ile)
|
rs774523194
|
0.00004
|
|
NM_001267550.2(TTN):c.91332C>T (p.Asn30444=)
|
rs397517752
|
0.00004
|
|
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=)
|
rs886044458
|
0.00004
|
|
NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val)
|
rs202090888
|
0.00004
|
|
NM_001267550.2(TTN):c.92363G>A (p.Gly30788Asp)
|
rs754125601
|
0.00004
|
|
NM_001267550.2(TTN):c.92460C>T (p.Asn30820=)
|
rs1306769660
|
0.00004
|
|
NM_001267550.2(TTN):c.92496C>T (p.Asp30832=)
|
rs766124375
|
0.00004
|
|
NM_001267550.2(TTN):c.92506A>C (p.Thr30836Pro)
|
rs762590394
|
0.00004
|
|
NM_001267550.2(TTN):c.92568T>C (p.Tyr30856=)
|
rs1296831661
|
0.00004
|
|
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys)
|
rs563887822
|
0.00004
|
|
NM_001267550.2(TTN):c.94029T>C (p.Asn31343=)
|
rs915586319
|
0.00004
|
|
NM_001267550.2(TTN):c.9402C>T (p.Asn3134=)
|
rs587780987
|
0.00004
|
|
NM_001267550.2(TTN):c.94230C>T (p.Ser31410=)
|
rs373502790
|
0.00004
|
|
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr)
|
rs375657115
|
0.00004
|
|
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His)
|
rs727503545
|
0.00004
|
|
NM_001267550.2(TTN):c.9485A>G (p.Gln3162Arg)
|
rs727503681
|
0.00004
|
|
NM_001267550.2(TTN):c.95153G>T (p.Ser31718Ile)
|
rs758006837
|
0.00004
|
|
NM_001267550.2(TTN):c.95364T>C (p.Tyr31788=)
|
rs752193341
|
0.00004
|
|
NM_001267550.2(TTN):c.95806G>A (p.Asp31936Asn)
|
rs267599025
|
0.00004
|
|
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)
|
rs375640847
|
0.00004
|
|
NM_001267550.2(TTN):c.96189C>T (p.Thr32063=)
|
rs544886477
|
0.00004
|
|
NM_001267550.2(TTN):c.96225T>A (p.Val32075=)
|
rs752745266
|
0.00004
|
|
NM_001267550.2(TTN):c.96310+4A>T
|
rs781222763
|
0.00004
|
|
NM_001267550.2(TTN):c.96390G>A (p.Thr32130=)
|
rs200999706
|
0.00004
|
|
NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys)
|
rs55915651
|
0.00004
|
|
NM_001267550.2(TTN):c.97464T>C (p.Ser32488=)
|
rs571147766
|
0.00004
|
|
NM_001267550.2(TTN):c.97493-20T>C
|
rs371919546
|
0.00004
|
|
NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly)
|
rs55634230
|
0.00004
|
|
NM_001267550.2(TTN):c.97795+12T>C
|
rs759477837
|
0.00004
|
|
NM_001267550.2(TTN):c.97935T>C (p.His32645=)
|
rs765709195
|
0.00004
|
|
NM_001267550.2(TTN):c.98098+11T>A
|
rs587780984
|
0.00004
|
|
NM_001267550.2(TTN):c.98161G>A (p.Val32721Ile)
|
rs533651182
|
0.00004
|
|
NM_001267550.2(TTN):c.98205A>C (p.Ile32735=)
|
rs745468223
|
0.00004
|
|
NM_001267550.2(TTN):c.98229G>A (p.Gln32743=)
|
rs771985992
|
0.00004
|
|
NM_001267550.2(TTN):c.98319T>C (p.Tyr32773=)
|
rs183278868
|
0.00004
|
|
NM_001267550.2(TTN):c.98367G>A (p.Lys32789=)
|
rs72648274
|
0.00004
|
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
|
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln)
|
rs752015224
|
0.00004
|
|
NM_001267550.2(TTN):c.99102G>C (p.Trp33034Cys)
|
rs397517778
|
0.00004
|
|
NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys)
|
rs766169253
|
0.00004
|
|
NM_001267550.2(TTN):c.99335C>A (p.Thr33112Lys)
|
rs374883160
|
0.00004
|
|
NM_001267550.2(TTN):c.99344G>A (p.Gly33115Asp)
|
rs879247634
|
0.00004
|
|
NM_001368067.1(LDB3):c.333C>G (p.Asn111Lys)
|
rs369470035
|
0.00004
|
|
NM_001368067.1(LDB3):c.348C>T (p.Ala116=)
|
rs397516557
|
0.00004
|
|
NM_001368067.1(LDB3):c.390G>A (p.Ser130=)
|
rs568549202
|
0.00004
|
|
NM_001368067.1(LDB3):c.770C>T (p.Thr257Met)
|
rs375798002
|
0.00004
|
|
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys)
|
rs121908335
|
0.00004
|
|
NM_001378030.1(CCDC78):c.1057G>A (p.Gly353Ser)
|
rs754906673
|
0.00004
|
|
NM_001378030.1(CCDC78):c.1133+7G>A
|
rs374450678
|
0.00004
|
|
NM_001378030.1(CCDC78):c.1177C>T (p.Arg393Trp)
|
rs767496331
|
0.00004
|
|
NM_001378030.1(CCDC78):c.1233G>A (p.Leu411=)
|
rs893572894
|
0.00004
|
|
NM_001378030.1(CCDC78):c.1281C>T (p.Tyr427=)
|
rs142180051
|
0.00004
|
|
NM_001378030.1(CCDC78):c.294G>A (p.Leu98=)
|
rs140303460
|
0.00004
|
|
NM_001378030.1(CCDC78):c.368G>A (p.Arg123Gln)
|
rs201924732
|
0.00004
|
|
NM_001378030.1(CCDC78):c.557G>A (p.Arg186His)
|
rs762337009
|
0.00004
|
|
NM_001378030.1(CCDC78):c.567C>T (p.Thr189=)
|
rs748680465
|
0.00004
|
|
NM_001378030.1(CCDC78):c.729C>T (p.Tyr243=)
|
rs376412009
|
0.00004
|
|
NM_001378030.1(CCDC78):c.751G>A (p.Ala251Thr)
|
rs371030168
|
0.00004
|
|
NM_001378030.1(CCDC78):c.810C>A (p.Leu270=)
|
rs372703744
|
0.00004
|
|
NM_001378030.1(CCDC78):c.812G>A (p.Arg271Gln)
|
rs764422260
|
0.00004
|
|
NM_001378030.1(CCDC78):c.845G>A (p.Arg282Gln)
|
rs201634385
|
0.00004
|
|
NM_001378030.1(CCDC78):c.862C>T (p.Arg288Cys)
|
rs764179609
|
0.00004
|
|
NM_001382567.1(STIM1):c.1410C>G (p.His470Gln)
|
rs748403696
|
0.00004
|
|
NM_001382567.1(STIM1):c.1425C>T (p.Asp475=)
|
rs200776986
|
0.00004
|
|
NM_001382567.1(STIM1):c.1597C>T (p.Arg533Cys)
|
rs149456514
|
0.00004
|
|
NM_001382567.1(STIM1):c.1766G>A (p.Arg589Gln)
|
rs199503470
|
0.00004
|
|
NM_001382567.1(STIM1):c.177G>A (p.Glu59=)
|
rs553909431
|
0.00004
|
|
NM_001382567.1(STIM1):c.1866C>G (p.Asp622Glu)
|
rs776241052
|
0.00004
|
|
NM_001382567.1(STIM1):c.1974A>G (p.Pro658=)
|
rs201051821
|
0.00004
|
|
NM_001382567.1(STIM1):c.385+16G>A
|
rs766833809
|
0.00004
|
|
NM_001382567.1(STIM1):c.392A>G (p.Asn131Ser)
|
rs201274425
|
0.00004
|
|
NM_001458.5(FLNC):c.1082G>A (p.Arg361His)
|
rs752888774
|
0.00004
|
|
NM_001458.5(FLNC):c.1211-18A>C
|
rs781059433
|
0.00004
|
|
NM_001458.5(FLNC):c.1225G>A (p.Asp409Asn)
|
rs371913931
|
0.00004
|
|
NM_001458.5(FLNC):c.1228G>C (p.Val410Leu)
|
rs993836469
|
0.00004
|
|
NM_001458.5(FLNC):c.1242C>T (p.Ile414=)
|
rs761922411
|
0.00004
|
|
NM_001458.5(FLNC):c.1243G>A (p.Val415Met)
|
rs369182765
|
0.00004
|
|
NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp)
|
rs759075520
|
0.00004
|
|
NM_001458.5(FLNC):c.1347C>T (p.Thr449=)
|
rs776162830
|
0.00004
|
|
NM_001458.5(FLNC):c.140A>G (p.Asn47Ser)
|
rs770861991
|
0.00004
|
|
NM_001458.5(FLNC):c.1412-10C>T
|
rs371509764
|
0.00004
|
|
NM_001458.5(FLNC):c.1535C>T (p.Thr512Met)
|
rs775538827
|
0.00004
|
|
NM_001458.5(FLNC):c.1662C>T (p.Tyr554=)
|
rs376975967
|
0.00004
|
|
NM_001458.5(FLNC):c.1677-12C>T
|
rs763076781
|
0.00004
|
|
NM_001458.5(FLNC):c.1677-14C>T
|
rs562609616
|
0.00004
|
|
NM_001458.5(FLNC):c.1728C>G (p.Ala576=)
|
rs370464621
|
0.00004
|
|
NM_001458.5(FLNC):c.1802T>C (p.Val601Ala)
|
rs763590899
|
0.00004
|
|
NM_001458.5(FLNC):c.1833C>T (p.Pro611=)
|
rs771403245
|
0.00004
|
|
NM_001458.5(FLNC):c.1849G>A (p.Glu617Lys)
|
rs773961444
|
0.00004
|
|
NM_001458.5(FLNC):c.1878C>T (p.Cys626=)
|
rs369735636
|
0.00004
|
|
NM_001458.5(FLNC):c.1936G>A (p.Asp646Asn)
|
rs372668691
|
0.00004
|
|
NM_001458.5(FLNC):c.204C>G (p.Leu68=)
|
rs752213633
|
0.00004
|
|
NM_001458.5(FLNC):c.2075T>C (p.Ile692Thr)
|
rs538863259
|
0.00004
|
|
NM_001458.5(FLNC):c.2139C>G (p.Pro713=)
|
rs746825094
|
0.00004
|
|
NM_001458.5(FLNC):c.2164G>A (p.Gly722Ser)
|
rs762248114
|
0.00004
|
|
NM_001458.5(FLNC):c.2310C>T (p.Tyr770=)
|
rs374087953
|
0.00004
|
|
NM_001458.5(FLNC):c.2389+13G>A
|
rs757608760
|
0.00004
|
|
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr)
|
rs200653747
|
0.00004
|
|
NM_001458.5(FLNC):c.2519G>A (p.Arg840His)
|
rs376472014
|
0.00004
|
|
NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys)
|
rs774707336
|
0.00004
|
|
NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg)
|
rs768103657
|
0.00004
|
|
NM_001458.5(FLNC):c.2907C>A (p.Ile969=)
|
rs368059457
|
0.00004
|
|
NM_001458.5(FLNC):c.2929+10G>A
|
rs747678158
|
0.00004
|
|
NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp)
|
rs555764780
|
0.00004
|
|
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)
|
rs201863231
|
0.00004
|
|
NM_001458.5(FLNC):c.318C>G (p.Phe106Leu)
|
rs886037829
|
0.00004
|
|
NM_001458.5(FLNC):c.327C>G (p.Arg109=)
|
rs750328194
|
0.00004
|
|
NM_001458.5(FLNC):c.3588C>T (p.Ala1196=)
|
rs376078628
|
0.00004
|
|
NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile)
|
rs373573447
|
0.00004
|
|
NM_001458.5(FLNC):c.3722G>A (p.Arg1241His)
|
rs370520806
|
0.00004
|
|
NM_001458.5(FLNC):c.3833G>A (p.Arg1278Lys)
|
rs540117605
|
0.00004
|
|
NM_001458.5(FLNC):c.3949A>G (p.Thr1317Ala)
|
rs377555574
|
0.00004
|
|
NM_001458.5(FLNC):c.3965-12G>T
|
rs368592349
|
0.00004
|
|
NM_001458.5(FLNC):c.4003G>A (p.Val1335Met)
|
rs368220468
|
0.00004
|
|
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His)
|
rs746731567
|
0.00004
|
|
NM_001458.5(FLNC):c.4140C>T (p.Thr1380=)
|
rs183668401
|
0.00004
|
|
NM_001458.5(FLNC):c.4173G>A (p.Ser1391=)
|
rs201481324
|
0.00004
|
|
NM_001458.5(FLNC):c.4556A>G (p.Tyr1519Cys)
|
rs1012086057
|
0.00004
|
|
NM_001458.5(FLNC):c.4650C>T (p.Asn1550=)
|
rs547733871
|
0.00004
|
|
NM_001458.5(FLNC):c.4660A>C (p.Ile1554Leu)
|
rs754224673
|
0.00004
|
|
NM_001458.5(FLNC):c.4737+18C>T
|
rs778735721
|
0.00004
|
|
NM_001458.5(FLNC):c.4744G>A (p.Glu1582Lys)
|
rs753022721
|
0.00004
|
|
NM_001458.5(FLNC):c.4771C>T (p.Arg1591Trp)
|
rs576453637
|
0.00004
|
|
NM_001458.5(FLNC):c.4803C>T (p.Ser1601=)
|
rs371475710
|
0.00004
|
|
NM_001458.5(FLNC):c.4880G>A (p.Arg1627His)
|
rs751592993
|
0.00004
|
|
NM_001458.5(FLNC):c.4951+3G>A
|
rs377554196
|
0.00004
|
|
NM_001458.5(FLNC):c.5142C>T (p.Tyr1714=)
|
rs573362121
|
0.00004
|
|
NM_001458.5(FLNC):c.5477A>G (p.Tyr1826Cys)
|
rs756197388
|
0.00004
|
|
NM_001458.5(FLNC):c.547C>T (p.Arg183Cys)
|
rs369221655
|
0.00004
|
|
NM_001458.5(FLNC):c.5539+15G>A
|
rs967007657
|
0.00004
|
|
NM_001458.5(FLNC):c.5668+18C>T
|
rs540465449
|
0.00004
|
|
NM_001458.5(FLNC):c.5669-9C>T
|
rs374651908
|
0.00004
|
|
NM_001458.5(FLNC):c.5709G>T (p.Glu1903Asp)
|
rs1279073825
|
0.00004
|
|
NM_001458.5(FLNC):c.5792G>A (p.Arg1931His)
|
rs780685346
|
0.00004
|
|
NM_001458.5(FLNC):c.5945G>A (p.Arg1982His)
|
rs375046429
|
0.00004
|
|
NM_001458.5(FLNC):c.594C>T (p.Cys198=)
|
rs375617228
|
0.00004
|
|
NM_001458.5(FLNC):c.6048C>T (p.Ser2016=)
|
rs369991887
|
0.00004
|
|
NM_001458.5(FLNC):c.6157G>A (p.Glu2053Lys)
|
rs761922251
|
0.00004
|
|
NM_001458.5(FLNC):c.6190G>A (p.Val2064Met)
|
rs756710545
|
0.00004
|
|
NM_001458.5(FLNC):c.6204T>C (p.Asn2068=)
|
rs756870900
|
0.00004
|
|
NM_001458.5(FLNC):c.6226C>T (p.Leu2076=)
|
rs756921919
|
0.00004
|
|
NM_001458.5(FLNC):c.6279C>T (p.Asp2093=)
|
rs370386782
|
0.00004
|
|
NM_001458.5(FLNC):c.6354C>T (p.His2118=)
|
rs368455239
|
0.00004
|
|
NM_001458.5(FLNC):c.6390C>T (p.Gly2130=)
|
rs746751083
|
0.00004
|
|
NM_001458.5(FLNC):c.6400A>G (p.Met2134Val)
|
rs761143223
|
0.00004
|
|
NM_001458.5(FLNC):c.6504G>A (p.Val2168=)
|
rs372665009
|
0.00004
|
|
NM_001458.5(FLNC):c.6702C>T (p.Phe2234=)
|
rs370589662
|
0.00004
|
|
NM_001458.5(FLNC):c.6708C>T (p.Ser2236=)
|
rs757805510
|
0.00004
|
|
NM_001458.5(FLNC):c.6728-16C>T
|
rs781170154
|
0.00004
|
|
NM_001458.5(FLNC):c.6864C>T (p.Val2288=)
|
rs761269440
|
0.00004
|
|
NM_001458.5(FLNC):c.6894C>T (p.Pro2298=)
|
rs765567723
|
0.00004
|
|
NM_001458.5(FLNC):c.6957C>T (p.Ala2319=)
|
rs553639480
|
0.00004
|
|
NM_001458.5(FLNC):c.6977G>A (p.Arg2326Gln)
|
rs201028676
|
0.00004
|
|
NM_001458.5(FLNC):c.699+20del
|
rs1271212198
|
0.00004
|
|
NM_001458.5(FLNC):c.7041G>A (p.Leu2347=)
|
rs772789448
|
0.00004
|
|
NM_001458.5(FLNC):c.7071G>A (p.Ala2357=)
|
rs753353216
|
0.00004
|
|
NM_001458.5(FLNC):c.711T>G (p.Pro237=)
|
rs749217540
|
0.00004
|
|
NM_001458.5(FLNC):c.7182C>T (p.Asp2394=)
|
rs769465229
|
0.00004
|
|
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His)
|
rs558239439
|
0.00004
|
|
NM_001458.5(FLNC):c.7256C>T (p.Thr2419Met)
|
rs199768217
|
0.00004
|
|
NM_001458.5(FLNC):c.7344G>A (p.Ser2448=)
|
rs376251952
|
0.00004
|
|
NM_001458.5(FLNC):c.7560C>T (p.Thr2520=)
|
rs527921534
|
0.00004
|
|
NM_001458.5(FLNC):c.7618G>C (p.Val2540Leu)
|
rs746349463
|
0.00004
|
|
NM_001458.5(FLNC):c.7755C>T (p.Gly2585=)
|
rs746404471
|
0.00004
|
|
NM_001458.5(FLNC):c.777G>A (p.Lys259=)
|
rs765604975
|
0.00004
|
|
NM_001458.5(FLNC):c.7875C>T (p.Tyr2625=)
|
rs373614270
|
0.00004
|
|
NM_001458.5(FLNC):c.7877G>A (p.Ser2626Asn)
|
rs2639142
|
0.00004
|
|
NM_001458.5(FLNC):c.8145C>T (p.Val2715=)
|
rs746842532
|
0.00004
|
|
NM_001458.5(FLNC):c.8175T>G (p.Pro2725=)
|
rs374175186
|
0.00004
|
|
NM_001458.5(FLNC):c.81C>A (p.Asp27Glu)
|
rs1318316375
|
0.00004
|
|
NM_001458.5(FLNC):c.851-7C>A
|
rs576908770
|
0.00004
|
|
NM_001458.5(FLNC):c.925G>A (p.Glu309Lys)
|
rs781212262
|
0.00004
|
|
NM_001458.5(FLNC):c.963C>T (p.Thr321=)
|
rs749769428
|
0.00004
|
|
NM_001843.4(CNTN1):c.1088G>A (p.Arg363Gln)
|
rs769750595
|
0.00004
|
|
NM_001843.4(CNTN1):c.1099A>G (p.Asn367Asp)
|
rs201534221
|
0.00004
|
|
NM_001843.4(CNTN1):c.1907A>C (p.Lys636Thr)
|
rs561403880
|
0.00004
|
|
NM_001843.4(CNTN1):c.2114-20T>C
|
rs896908779
|
0.00004
|
|
NM_001843.4(CNTN1):c.2553A>G (p.Glu851=)
|
rs150210369
|
0.00004
|
|
NM_001843.4(CNTN1):c.2853T>C (p.Asp951=)
|
rs756967148
|
0.00004
|
|
NM_001843.4(CNTN1):c.2934G>A (p.Ala978=)
|
rs760832587
|
0.00004
|
|
NM_001843.4(CNTN1):c.315A>G (p.Lys105=)
|
rs553916945
|
0.00004
|
|
NM_001843.4(CNTN1):c.330A>T (p.Gly110=)
|
rs150601046
|
0.00004
|
|
NM_001843.4(CNTN1):c.401-6A>G
|
rs146099643
|
0.00004
|
|
NM_001843.4(CNTN1):c.693A>G (p.Pro231=)
|
rs755987043
|
0.00004
|
|
NM_001843.4(CNTN1):c.826C>T (p.Arg276Trp)
|
rs144047921
|
0.00004
|
|
NM_001843.4(CNTN1):c.827G>A (p.Arg276Gln)
|
rs201607834
|
0.00004
|
|
NM_001843.4(CNTN1):c.971G>A (p.Arg324Lys)
|
rs148624625
|
0.00004
|
|
NM_001848.3(COL6A1):c.1119+13C>T
|
rs199655304
|
0.00004
|
|
NM_001848.3(COL6A1):c.1146G>A (p.Ala382=)
|
rs148492687
|
0.00004
|
|
NM_001848.3(COL6A1):c.1236+5G>A
|
rs376327142
|
0.00004
|
|
NM_001848.3(COL6A1):c.1271G>A (p.Arg424Gln)
|
rs761729281
|
0.00004
|
|
NM_001848.3(COL6A1):c.1313C>T (p.Thr438Met)
|
rs376807461
|
0.00004
|
|
NM_001848.3(COL6A1):c.1336-12G>A
|
rs746917431
|
0.00004
|
|
NM_001848.3(COL6A1):c.1336-18C>T
|
rs201516559
|
0.00004
|
|
NM_001848.3(COL6A1):c.1397C>T (p.Pro466Leu)
|
rs746962124
|
0.00004
|
|
NM_001848.3(COL6A1):c.1458C>T (p.Ser486=)
|
rs377137616
|
0.00004
|
|
NM_001848.3(COL6A1):c.1461+4A>G
|
rs201372759
|
0.00004
|
|
NM_001848.3(COL6A1):c.1540G>A (p.Ala514Thr)
|
rs760815168
|
0.00004
|
|
NM_001848.3(COL6A1):c.1554C>T (p.Thr518=)
|
rs9637170
|
0.00004
|
|
NM_001848.3(COL6A1):c.1555G>A (p.Glu519Lys)
|
rs754384963
|
0.00004
|
|
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=)
|
rs781031251
|
0.00004
|
|
NM_001848.3(COL6A1):c.1611+8C>T
|
rs376055208
|
0.00004
|
|
NM_001848.3(COL6A1):c.1656C>T (p.Ala552=)
|
rs377213930
|
0.00004
|
|
NM_001848.3(COL6A1):c.1672G>A (p.Asp558Asn)
|
rs1372696070
|
0.00004
|
|
NM_001848.3(COL6A1):c.1675-15G>A
|
rs763344899
|
0.00004
|
|
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)
|
rs201227573
|
0.00004
|
|
NM_001848.3(COL6A1):c.1729G>A (p.Glu577Lys)
|
rs552634753
|
0.00004
|
|
NM_001848.3(COL6A1):c.1741-13G>A
|
rs201063714
|
0.00004
|
|
NM_001848.3(COL6A1):c.1763C>T (p.Pro588Leu)
|
rs759442615
|
0.00004
|
|
NM_001848.3(COL6A1):c.1814-8C>T
|
rs777017599
|
0.00004
|
|
NM_001848.3(COL6A1):c.1825T>C (p.Cys609Arg)
|
rs763495943
|
0.00004
|
|
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys)
|
rs764129993
|
0.00004
|
|
NM_001848.3(COL6A1):c.1957-17C>T
|
rs370007363
|
0.00004
|
|
NM_001848.3(COL6A1):c.2080C>T (p.Leu694=)
|
rs1336464401
|
0.00004
|
|
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=)
|
rs760649238
|
0.00004
|
|
NM_001848.3(COL6A1):c.2148G>A (p.Pro716=)
|
rs780032842
|
0.00004
|
|
NM_001848.3(COL6A1):c.2156C>T (p.Pro719Leu)
|
rs753759904
|
0.00004
|
|
NM_001848.3(COL6A1):c.228-17G>A
|
rs528620355
|
0.00004
|
|
NM_001848.3(COL6A1):c.2481G>A (p.Pro827=)
|
rs772673965
|
0.00004
|
|
NM_001848.3(COL6A1):c.2560C>T (p.Arg854Cys)
|
rs771987341
|
0.00004
|
|
NM_001848.3(COL6A1):c.2561G>A (p.Arg854His)
|
rs200732314
|
0.00004
|
|
NM_001848.3(COL6A1):c.2610C>T (p.Asp870=)
|
rs759989949
|
0.00004
|
|
NM_001848.3(COL6A1):c.2785G>A (p.Glu929Lys)
|
rs145846228
|
0.00004
|
|
NM_001848.3(COL6A1):c.2800G>A (p.Ala934Thr)
|
rs147716407
|
0.00004
|
|
NM_001848.3(COL6A1):c.2853G>A (p.Thr951=)
|
rs890068806
|
0.00004
|
|
NM_001848.3(COL6A1):c.2982C>T (p.Tyr994=)
|
rs369948305
|
0.00004
|
|
NM_001848.3(COL6A1):c.3013C>T (p.Arg1005Cys)
|
rs780139552
|
0.00004
|
|
NM_001848.3(COL6A1):c.3040C>T (p.Arg1014Cys)
|
rs376764211
|
0.00004
|
|
NM_001848.3(COL6A1):c.329G>A (p.Arg110His)
|
rs773139115
|
0.00004
|
|
NM_001848.3(COL6A1):c.510G>A (p.Gly170=)
|
rs373970248
|
0.00004
|
|
NM_001848.3(COL6A1):c.519G>A (p.Glu173=)
|
rs146071423
|
0.00004
|
|
NM_001848.3(COL6A1):c.588+9C>T
|
rs776935888
|
0.00004
|
|
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn)
|
rs199842980
|
0.00004
|
|
NM_001848.3(COL6A1):c.763G>A (p.Ala255Thr)
|
rs145473829
|
0.00004
|
|
NM_001848.3(COL6A1):c.785G>A (p.Arg262Gln)
|
rs757791812
|
0.00004
|
|
NM_001848.3(COL6A1):c.903+4C>T
|
rs200380846
|
0.00004
|
|
NM_001848.3(COL6A1):c.931-18C>T
|
rs755738565
|
0.00004
|
|
NM_001848.3(COL6A1):c.96G>A (p.Gln32=)
|
rs754988212
|
0.00004
|
|
NM_001849.4(COL6A2):c.1013G>A (p.Arg338His)
|
rs760872485
|
0.00004
|
|
NM_001849.4(COL6A2):c.1017C>T (p.Ile339=)
|
rs766157503
|
0.00004
|
|
NM_001849.4(COL6A2):c.1138C>T (p.Arg380Cys)
|
rs142880107
|
0.00004
|
|
NM_001849.4(COL6A2):c.1252G>A (p.Gly418Arg)
|
rs768681228
|
0.00004
|
|
NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser)
|
rs765430501
|
0.00004
|
|
NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn)
|
rs202039679
|
0.00004
|
|
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp)
|
rs727502829
|
0.00004
|
|
NM_001849.4(COL6A2):c.1492C>T (p.Arg498Cys)
|
rs776748046
|
0.00004
|
|
NM_001849.4(COL6A2):c.1616G>A (p.Arg539Gln)
|
rs768933697
|
0.00004
|
|
NM_001849.4(COL6A2):c.1710G>A (p.Gly570=)
|
rs377210303
|
0.00004
|
|
NM_001849.4(COL6A2):c.1771-14C>T
|
rs200727166
|
0.00004
|
|
NM_001849.4(COL6A2):c.1817-8C>A
|
rs750444649
|
0.00004
|
|
NM_001849.4(COL6A2):c.1899G>A (p.Leu633=)
|
rs189341312
|
0.00004
|
|
NM_001849.4(COL6A2):c.1970-15G>A
|
rs372285273
|
0.00004
|
|
NM_001849.4(COL6A2):c.1970-20C>T
|
rs568102534
|
0.00004
|
|
NM_001849.4(COL6A2):c.1970-8G>C
|
rs771873003
|
0.00004
|
|
NM_001849.4(COL6A2):c.2034C>T (p.Asp678=)
|
rs776187095
|
0.00004
|
|
NM_001849.4(COL6A2):c.2058C>T (p.Ser686=)
|
rs370558215
|
0.00004
|
|
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn)
|
rs368641951
|
0.00004
|
|
NM_001849.4(COL6A2):c.2159G>A (p.Arg720His)
|
rs145140058
|
0.00004
|
|
NM_001849.4(COL6A2):c.219C>T (p.Phe73=)
|
rs374336669
|
0.00004
|
|
NM_001849.4(COL6A2):c.2233C>T (p.Arg745Trp)
|
rs140643748
|
0.00004
|
|
NM_001849.4(COL6A2):c.2278G>A (p.Gly760Arg)
|
rs199913294
|
0.00004
|
|
NM_001849.4(COL6A2):c.2395G>A (p.Asp799Asn)
|
rs372936386
|
0.00004
|
|
NM_001849.4(COL6A2):c.2407G>A (p.Asp803Asn)
|
rs761913437
|
0.00004
|
|
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln)
|
rs139552940
|
0.00004
|
|
NM_001849.4(COL6A2):c.2490G>A (p.Arg830=)
|
rs748047522
|
0.00004
|
|
NM_001849.4(COL6A2):c.2494G>A (p.Val832Met)
|
rs376841327
|
0.00004
|
|
NM_001849.4(COL6A2):c.249C>T (p.Asn83=)
|
rs151032529
|
0.00004
|
|
NM_001849.4(COL6A2):c.2524G>A (p.Glu842Lys)
|
rs571051982
|
0.00004
|
|
NM_001849.4(COL6A2):c.2536G>A (p.Glu846Lys)
|
rs772005975
|
0.00004
|
|
NM_001849.4(COL6A2):c.2557C>T (p.Arg853Trp)
|
rs759689002
|
0.00004
|
|
NM_001849.4(COL6A2):c.2591C>T (p.Thr864Met)
|
rs200488881
|
0.00004
|
|
NM_001849.4(COL6A2):c.2598C>G (p.Ala866=)
|
rs376791811
|
0.00004
|
|
NM_001849.4(COL6A2):c.2627G>A (p.Arg876His)
|
rs1012567148
|
0.00004
|
|
NM_001849.4(COL6A2):c.2655C>T (p.Pro885=)
|
rs374163190
|
0.00004
|
|
NM_001849.4(COL6A2):c.2728T>C (p.Tyr910His)
|
rs554257211
|
0.00004
|
|
NM_001849.4(COL6A2):c.2844G>A (p.Thr948=)
|
rs757818559
|
0.00004
|
|
NM_001849.4(COL6A2):c.2863G>A (p.Asp955Asn)
|
rs773407652
|
0.00004
|
|
NM_001849.4(COL6A2):c.2934C>T (p.Ser978=)
|
rs139814466
|
0.00004
|
|
NM_001849.4(COL6A2):c.2949C>T (p.Asp983=)
|
rs764590595
|
0.00004
|
|
NM_001849.4(COL6A2):c.2968C>T (p.Leu990=)
|
rs746012569
|
0.00004
|
|
NM_001849.4(COL6A2):c.3004T>C (p.Tyr1002His)
|
rs527236952
|
0.00004
|
|
NM_001849.4(COL6A2):c.3046C>T (p.Arg1016Cys)
|
rs373392391
|
0.00004
|
|
NM_001849.4(COL6A2):c.411G>A (p.Ala137=)
|
rs528885146
|
0.00004
|
|
NM_001849.4(COL6A2):c.472G>A (p.Val158Met)
|
rs201792591
|
0.00004
|
|
NM_001849.4(COL6A2):c.503G>T (p.Ser168Ile)
|
rs376564984
|
0.00004
|
|
NM_001849.4(COL6A2):c.535C>T (p.Arg179Trp)
|
rs201470058
|
0.00004
|
|
NM_001849.4(COL6A2):c.545A>G (p.Glu182Gly)
|
rs760509198
|
0.00004
|
|
NM_001849.4(COL6A2):c.556C>T (p.Arg186Trp)
|
rs754048358
|
0.00004
|
|
NM_001849.4(COL6A2):c.572C>T (p.Ala191Val)
|
rs747347320
|
0.00004
|
|
NM_001849.4(COL6A2):c.642C>T (p.Asn214=)
|
rs781584161
|
0.00004
|
|
NM_001849.4(COL6A2):c.649G>A (p.Ala217Thr)
|
rs530625182
|
0.00004
|
|
NM_001849.4(COL6A2):c.714+10G>A
|
rs777394169
|
0.00004
|
|
NM_001849.4(COL6A2):c.735+7G>A
|
rs575365107
|
0.00004
|
|
NM_001849.4(COL6A2):c.80C>T (p.Ser27Leu)
|
rs150057026
|
0.00004
|
|
NM_001849.4(COL6A2):c.83C>T (p.Pro28Leu)
|
rs778546141
|
0.00004
|
|
NM_001849.4(COL6A2):c.950G>A (p.Arg317His)
|
rs373782637
|
0.00004
|
|
NM_001849.4(COL6A2):c.961C>T (p.Pro321Ser)
|
rs745678446
|
0.00004
|
|
NM_001927.4(DES):c.109C>T (p.Arg37Trp)
|
rs537881554
|
0.00004
|
|
NM_001927.4(DES):c.1158C>T (p.Arg386=)
|
rs774323736
|
0.00004
|
|
NM_001927.4(DES):c.1243C>T (p.Arg415Trp)
|
rs751942358
|
0.00004
|
|
NM_001927.4(DES):c.1289-18C>T
|
rs367712053
|
0.00004
|
|
NM_001927.4(DES):c.268G>C (p.Asp90His)
|
rs1267102255
|
0.00004
|
|
NM_001927.4(DES):c.639+18C>T
|
rs768129908
|
0.00004
|
|
NM_001927.4(DES):c.63C>T (p.Ala21=)
|
rs201458068
|
0.00004
|
|
NM_001927.4(DES):c.662C>T (p.Ala221Val)
|
rs746814065
|
0.00004
|
|
NM_001927.4(DES):c.937G>A (p.Ala313Thr)
|
rs766252091
|
0.00004
|
|
NM_002469.3(MYF6):c.220C>T (p.Pro74Ser)
|
rs996997577
|
0.00004
|
|
NM_003283.6(TNNT1):c.192+18C>G
|
rs1041324336
|
0.00004
|
|
NM_003283.6(TNNT1):c.294C>T (p.Ala98=)
|
rs373544170
|
0.00004
|
|
NM_003283.6(TNNT1):c.502-17G>A
|
rs370760520
|
0.00004
|
|
NM_003283.6(TNNT1):c.562G>A (p.Glu188Lys)
|
rs201519507
|
0.00004
|
|
NM_003283.6(TNNT1):c.566G>A (p.Arg189His)
|
rs770079408
|
0.00004
|
|
NM_003283.6(TNNT1):c.73+6G>A
|
rs1056384260
|
0.00004
|
|
NM_003283.6(TNNT1):c.802G>A (p.Ala268Thr)
|
rs200340030
|
0.00004
|
|
NM_003319.4(TTN):c.37778-4C>G
|
rs369934310
|
0.00004
|
|
NM_004168.4(SDHA):c.1001C>T (p.Ala334Val)
|
rs765180271
|
0.00004
|
|
NM_004168.4(SDHA):c.1014G>A (p.Ala338=)
|
rs201341132
|
0.00004
|
|
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg)
|
rs141493530
|
0.00004
|
|
NM_004168.4(SDHA):c.1260+17C>G
|
rs750384205
|
0.00004
|
|
NM_004168.4(SDHA):c.1311C>T (p.Ala437=)
|
rs377506772
|
0.00004
|
|
NM_004168.4(SDHA):c.1428G>A (p.Arg476=)
|
rs377415114
|
0.00004
|
|
NM_004168.4(SDHA):c.1432+7G>C
|
rs760526397
|
0.00004
|
|
NM_004168.4(SDHA):c.1526C>G (p.Ser509Trp)
|
rs397514541
|
0.00004
|
|
NM_004168.4(SDHA):c.1572C>T (p.Ala524=)
|
rs185679709
|
0.00004
|
|
NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg)
|
rs370291114
|
0.00004
|
|
NM_004168.4(SDHA):c.1663+3G>C
|
rs751904543
|
0.00004
|
|
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn)
|
rs757176672
|
0.00004
|
|
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val)
|
rs750327309
|
0.00004
|
|
NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr)
|
rs1042170
|
0.00004
|
|
NM_004168.4(SDHA):c.1929C>T (p.Pro643=)
|
rs761201589
|
0.00004
|
|
NM_004168.4(SDHA):c.1930G>A (p.Val644Met)
|
rs3211483
|
0.00004
|
|
NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys)
|
rs375396913
|
0.00004
|
|
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)
|
rs377632619
|
0.00004
|
|
NM_004168.4(SDHA):c.300T>C (p.Thr100=)
|
rs771662494
|
0.00004
|
|
NM_004168.4(SDHA):c.313-7T>C
|
rs201972549
|
0.00004
|
|
NM_004168.4(SDHA):c.372C>T (p.Tyr124=)
|
rs754393360
|
0.00004
|
|
NM_004168.4(SDHA):c.444C>T (p.Ala148=)
|
rs367618662
|
0.00004
|
|
NM_004168.4(SDHA):c.448G>A (p.Val150Met)
|
rs542980860
|
0.00004
|
|
NM_004168.4(SDHA):c.456+9C>T
|
rs200565489
|
0.00004
|
|
NM_004168.4(SDHA):c.457-4A>G
|
rs770052391
|
0.00004
|
|
NM_004168.4(SDHA):c.513T>C (p.Arg171=)
|
rs765157205
|
0.00004
|
|
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)
|
rs139881415
|
0.00004
|
|
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)
|
rs780064103
|
0.00004
|
|
NM_004168.4(SDHA):c.641G>A (p.Ser214Asn)
|
rs755432673
|
0.00004
|
|
NM_004168.4(SDHA):c.705C>T (p.Ile235=)
|
rs549892491
|
0.00004
|
|
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)
|
rs571292356
|
0.00004
|
|
NM_004168.4(SDHA):c.957T>C (p.Ile319=)
|
rs757167466
|
0.00004
|
|
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys)
|
rs147014102
|
0.00004
|
|
NM_004281.4(BAG3):c.1157C>A (p.Ser386Tyr)
|
rs756178548
|
0.00004
|
|
NM_004281.4(BAG3):c.1291A>G (p.Lys431Glu)
|
rs1374652846
|
0.00004
|
|
NM_004281.4(BAG3):c.1446C>T (p.Asp482=)
|
rs767539919
|
0.00004
|
|
NM_004281.4(BAG3):c.1625C>T (p.Ala542Val)
|
rs770920565
|
0.00004
|
|
NM_004281.4(BAG3):c.1635C>G (p.Pro545=)
|
rs148597097
|
0.00004
|
|
NM_004281.4(BAG3):c.1659A>T (p.Glu553Asp)
|
rs763530097
|
0.00004
|
|
NM_004281.4(BAG3):c.181-15C>T
|
rs397516882
|
0.00004
|
|
NM_004281.4(BAG3):c.191C>T (p.Ser64Phe)
|
rs780615753
|
0.00004
|
|
NM_004281.4(BAG3):c.316C>T (p.Arg106Trp)
|
rs767341152
|
0.00004
|
|
NM_004281.4(BAG3):c.34G>A (p.Val12Met)
|
rs367917821
|
0.00004
|
|
NM_004281.4(BAG3):c.627G>A (p.Pro209=)
|
rs188555685
|
0.00004
|
|
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp)
|
rs397514506
|
0.00004
|
|
NM_004281.4(BAG3):c.679C>G (p.Gln227Glu)
|
rs149517238
|
0.00004
|
|
NM_004281.4(BAG3):c.743A>G (p.His248Arg)
|
rs369947845
|
0.00004
|
|
NM_004281.4(BAG3):c.795G>A (p.Pro265=)
|
rs180736121
|
0.00004
|
|
NM_004281.4(BAG3):c.926G>A (p.Arg309Gln)
|
rs774137001
|
0.00004
|
|
NM_004281.4(BAG3):c.968G>A (p.Ser323Asn)
|
rs754387872
|
0.00004
|
|
NM_004369.4(COL6A3):c.1218T>C (p.Arg406=)
|
rs766367190
|
0.00004
|
|
NM_004369.4(COL6A3):c.1263C>T (p.Gly421=)
|
rs775821966
|
0.00004
|
|
NM_004369.4(COL6A3):c.1385A>G (p.Asn462Ser)
|
rs200250810
|
0.00004
|
|
NM_004369.4(COL6A3):c.1598G>A (p.Arg533His)
|
rs764614021
|
0.00004
|
|
NM_004369.4(COL6A3):c.1830C>T (p.Ala610=)
|
rs756709812
|
0.00004
|
|
NM_004369.4(COL6A3):c.1831G>A (p.Ala611Thr)
|
rs372255458
|
0.00004
|
|
NM_004369.4(COL6A3):c.2029C>T (p.Arg677Cys)
|
rs137923508
|
0.00004
|
|
NM_004369.4(COL6A3):c.2066C>T (p.Thr689Met)
|
rs762162177
|
0.00004
|
|
NM_004369.4(COL6A3):c.2147G>A (p.Gly716Asp)
|
rs144514259
|
0.00004
|
|
NM_004369.4(COL6A3):c.2162C>G (p.Ser721Ter)
|
rs377632042
|
0.00004
|
|
NM_004369.4(COL6A3):c.2206G>A (p.Gly736Ser)
|
rs150008830
|
0.00004
|
|
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His)
|
rs575412915
|
0.00004
|
|
NM_004369.4(COL6A3):c.2426C>T (p.Pro809Leu)
|
rs138281601
|
0.00004
|
|
NM_004369.4(COL6A3):c.2529C>T (p.Asp843=)
|
rs556079869
|
0.00004
|
|
NM_004369.4(COL6A3):c.254G>A (p.Gly85Glu)
|
rs369814614
|
0.00004
|
|
NM_004369.4(COL6A3):c.2634T>C (p.Ala878=)
|
rs760857131
|
0.00004
|
|
NM_004369.4(COL6A3):c.2745C>T (p.Asn915=)
|
rs749992393
|
0.00004
|
|
NM_004369.4(COL6A3):c.2748G>C (p.Leu916=)
|
rs1347948544
|
0.00004
|
|
NM_004369.4(COL6A3):c.285G>A (p.Thr95=)
|
rs373435541
|
0.00004
|
|
NM_004369.4(COL6A3):c.2931C>T (p.Asn977=)
|
rs774059985
|
0.00004
|
|
NM_004369.4(COL6A3):c.29T>C (p.Val10Ala)
|
rs766458324
|
0.00004
|
|
NM_004369.4(COL6A3):c.3008G>A (p.Gly1003Glu)
|
rs775536678
|
0.00004
|
|
NM_004369.4(COL6A3):c.3070+6G>A
|
rs761124398
|
0.00004
|
|
NM_004369.4(COL6A3):c.3196C>T (p.Arg1066Cys)
|
rs774406266
|
0.00004
|
|
NM_004369.4(COL6A3):c.3273C>T (p.Val1091=)
|
rs200562443
|
0.00004
|
|
NM_004369.4(COL6A3):c.3279C>T (p.Asn1093=)
|
rs777242754
|
0.00004
|
|
NM_004369.4(COL6A3):c.3287G>A (p.Arg1096His)
|
rs200860322
|
0.00004
|
|
NM_004369.4(COL6A3):c.3411C>T (p.Ile1137=)
|
rs368285658
|
0.00004
|
|
NM_004369.4(COL6A3):c.3463G>A (p.Val1155Met)
|
rs774764179
|
0.00004
|
|
NM_004369.4(COL6A3):c.3545C>T (p.Pro1182Leu)
|
rs768064422
|
0.00004
|
|
NM_004369.4(COL6A3):c.354T>G (p.Thr118=)
|
rs751592191
|
0.00004
|
|
NM_004369.4(COL6A3):c.3576C>T (p.Arg1192=)
|
rs201942049
|
0.00004
|
|
NM_004369.4(COL6A3):c.3679+5G>T
|
rs138878144
|
0.00004
|
|
NM_004369.4(COL6A3):c.3733G>A (p.Gly1245Arg)
|
rs150548221
|
0.00004
|
|
NM_004369.4(COL6A3):c.3741G>C (p.Glu1247Asp)
|
rs577927810
|
0.00004
|
|
NM_004369.4(COL6A3):c.3750C>T (p.Tyr1250=)
|
rs763648429
|
0.00004
|
|
NM_004369.4(COL6A3):c.3936G>C (p.Val1312=)
|
rs776983763
|
0.00004
|
|
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)
|
rs766488017
|
0.00004
|
|
NM_004369.4(COL6A3):c.4155C>T (p.Pro1385=)
|
rs761804539
|
0.00004
|
|
NM_004369.4(COL6A3):c.4226C>T (p.Thr1409Met)
|
rs368928992
|
0.00004
|
|
NM_004369.4(COL6A3):c.4285+13C>T
|
rs368338594
|
0.00004
|
|
NM_004369.4(COL6A3):c.4361A>G (p.His1454Arg)
|
rs141754714
|
0.00004
|
|
NM_004369.4(COL6A3):c.4411A>C (p.Ser1471Arg)
|
rs150321587
|
0.00004
|
|
NM_004369.4(COL6A3):c.4431C>T (p.Val1477=)
|
rs151289203
|
0.00004
|
|
NM_004369.4(COL6A3):c.4432G>A (p.Val1478Met)
|
rs374493032
|
0.00004
|
|
NM_004369.4(COL6A3):c.4596G>A (p.Ala1532=)
|
rs747802067
|
0.00004
|
|
NM_004369.4(COL6A3):c.4603C>T (p.Arg1535Cys)
|
rs752225290
|
0.00004
|
|
NM_004369.4(COL6A3):c.4614C>T (p.Asp1538=)
|
rs199759398
|
0.00004
|
|
NM_004369.4(COL6A3):c.4691G>A (p.Arg1564His)
|
rs368151192
|
0.00004
|
|
NM_004369.4(COL6A3):c.4742C>G (p.Thr1581Arg)
|
rs1156524068
|
0.00004
|
|
NM_004369.4(COL6A3):c.4836G>A (p.Ser1612=)
|
rs766930229
|
0.00004
|
|
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=)
|
rs200948078
|
0.00004
|
|
NM_004369.4(COL6A3):c.5230C>T (p.Pro1744Ser)
|
rs192930227
|
0.00004
|
|
NM_004369.4(COL6A3):c.5265G>A (p.Ser1755=)
|
rs140699766
|
0.00004
|
|
NM_004369.4(COL6A3):c.5277A>G (p.Ala1759=)
|
rs567112070
|
0.00004
|
|
NM_004369.4(COL6A3):c.5344G>A (p.Asp1782Asn)
|
rs762035107
|
0.00004
|
|
NM_004369.4(COL6A3):c.5379C>T (p.Ser1793=)
|
rs760201640
|
0.00004
|
|
NM_004369.4(COL6A3):c.5387C>T (p.Ala1796Val)
|
rs772890888
|
0.00004
|
|
NM_004369.4(COL6A3):c.5388G>A (p.Ala1796=)
|
rs116565519
|
0.00004
|
|
NM_004369.4(COL6A3):c.5393G>A (p.Arg1798His)
|
rs371441617
|
0.00004
|
|
NM_004369.4(COL6A3):c.5403C>T (p.Asn1801=)
|
rs114357878
|
0.00004
|
|
NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys)
|
rs781624176
|
0.00004
|
|
NM_004369.4(COL6A3):c.5500+15G>A
|
rs372876170
|
0.00004
|
|
NM_004369.4(COL6A3):c.5607C>T (p.Ile1869=)
|
rs751159969
|
0.00004
|
|
NM_004369.4(COL6A3):c.5681C>T (p.Pro1894Leu)
|
rs376002858
|
0.00004
|
|
NM_004369.4(COL6A3):c.5690C>T (p.Pro1897Leu)
|
rs370806359
|
0.00004
|
|
NM_004369.4(COL6A3):c.581A>G (p.Asn194Ser)
|
rs771489087
|
0.00004
|
|
NM_004369.4(COL6A3):c.5869G>A (p.Gly1957Arg)
|
rs554219567
|
0.00004
|
|
NM_004369.4(COL6A3):c.5953G>A (p.Val1985Met)
|
rs200478135
|
0.00004
|
|
NM_004369.4(COL6A3):c.6075C>T (p.Ala2025=)
|
rs375668409
|
0.00004
|
|
NM_004369.4(COL6A3):c.6182G>A (p.Arg2061Gln)
|
rs376715966
|
0.00004
|
|
NM_004369.4(COL6A3):c.6218G>A (p.Arg2073His)
|
rs185047948
|
0.00004
|
|
NM_004369.4(COL6A3):c.625A>G (p.Ile209Val)
|
rs751370730
|
0.00004
|
|
NM_004369.4(COL6A3):c.6312C>T (p.Gly2104=)
|
rs377074792
|
0.00004
|
|
NM_004369.4(COL6A3):c.6354+18A>C
|
rs774579188
|
0.00004
|
|
NM_004369.4(COL6A3):c.6452T>C (p.Val2151Ala)
|
rs540633944
|
0.00004
|
|
NM_004369.4(COL6A3):c.6461G>A (p.Arg2154Gln)
|
rs145561490
|
0.00004
|
|
NM_004369.4(COL6A3):c.6471+20C>T
|
rs370407313
|
0.00004
|
|
NM_004369.4(COL6A3):c.6852C>T (p.Ile2284=)
|
rs374952003
|
0.00004
|
|
NM_004369.4(COL6A3):c.6879+15C>T
|
rs368631950
|
0.00004
|
|
NM_004369.4(COL6A3):c.6912A>G (p.Glu2304=)
|
rs746697715
|
0.00004
|
|
NM_004369.4(COL6A3):c.6931-6T>C
|
rs376338674
|
0.00004
|
|
NM_004369.4(COL6A3):c.6967-15C>T
|
rs112451272
|
0.00004
|
|
NM_004369.4(COL6A3):c.7441A>G (p.Thr2481Ala)
|
rs201467603
|
0.00004
|
|
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=)
|
rs570963533
|
0.00004
|
|
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val)
|
rs769072338
|
0.00004
|
|
NM_004369.4(COL6A3):c.7646G>A (p.Arg2549Gln)
|
rs115863049
|
0.00004
|
|
NM_004369.4(COL6A3):c.7746C>T (p.Leu2582=)
|
rs751294512
|
0.00004
|
|
NM_004369.4(COL6A3):c.7748C>T (p.Thr2583Met)
|
rs140021275
|
0.00004
|
|
NM_004369.4(COL6A3):c.7879G>A (p.Ala2627Thr)
|
rs776220123
|
0.00004
|
|
NM_004369.4(COL6A3):c.7963C>G (p.Pro2655Ala)
|
rs767471920
|
0.00004
|
|
NM_004369.4(COL6A3):c.8137A>G (p.Arg2713Gly)
|
rs772602377
|
0.00004
|
|
NM_004369.4(COL6A3):c.8231C>T (p.Thr2744Met)
|
rs373680762
|
0.00004
|
|
NM_004369.4(COL6A3):c.8244G>A (p.Pro2748=)
|
rs113754336
|
0.00004
|
|
NM_004369.4(COL6A3):c.8270G>C (p.Arg2757Thr)
|
rs746608405
|
0.00004
|
|
NM_004369.4(COL6A3):c.8317G>A (p.Gly2773Ser)
|
rs756294311
|
0.00004
|
|
NM_004369.4(COL6A3):c.8389T>C (p.Leu2797=)
|
rs754977455
|
0.00004
|
|
NM_004369.4(COL6A3):c.8415C>T (p.Asn2805=)
|
rs375442243
|
0.00004
|
|
NM_004369.4(COL6A3):c.8567+2dup
|
rs776144262
|
0.00004
|
|
NM_004369.4(COL6A3):c.8639C>T (p.Thr2880Met)
|
rs770436761
|
0.00004
|
|
NM_004369.4(COL6A3):c.8966-1G>C
|
rs767517186
|
0.00004
|
|
NM_004369.4(COL6A3):c.9130G>A (p.Val3044Ile)
|
rs374628435
|
0.00004
|
|
NM_004369.4(COL6A3):c.9198C>T (p.Val3066=)
|
rs765101399
|
0.00004
|
|
NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=)
|
rs748814297
|
0.00004
|
|
NM_004369.4(COL6A3):c.9445G>A (p.Glu3149Lys)
|
rs138694883
|
0.00004
|
|
NM_004369.4(COL6A3):c.9499G>A (p.Ala3167Thr)
|
rs537511128
|
0.00004
|
|
NM_004370.6(COL12A1):c.1117G>T (p.Ala373Ser)
|
rs370379561
|
0.00004
|
|
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His)
|
rs755195861
|
0.00004
|
|
NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln)
|
rs757252832
|
0.00004
|
|
NM_004370.6(COL12A1):c.1666G>T (p.Ala556Ser)
|
rs776633189
|
0.00004
|
|
NM_004370.6(COL12A1):c.1683G>A (p.Ala561=)
|
rs371148798
|
0.00004
|
|
NM_004370.6(COL12A1):c.1742G>A (p.Arg581His)
|
rs756803766
|
0.00004
|
|
NM_004370.6(COL12A1):c.1877C>T (p.Ala626Val)
|
rs369924790
|
0.00004
|
|
NM_004370.6(COL12A1):c.2009C>G (p.Ala670Gly)
|
rs774882851
|
0.00004
|
|
NM_004370.6(COL12A1):c.2064C>T (p.Leu688=)
|
rs746946822
|
0.00004
|
|
NM_004370.6(COL12A1):c.2157C>T (p.Thr719=)
|
rs776302292
|
0.00004
|
|
NM_004370.6(COL12A1):c.2164+6A>T
|
rs746467248
|
0.00004
|
|
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser)
|
rs370256196
|
0.00004
|
|
NM_004370.6(COL12A1):c.2499T>C (p.Ser833=)
|
rs1013417237
|
0.00004
|
|
NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu)
|
rs201662983
|
0.00004
|
|
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met)
|
rs572007088
|
0.00004
|
|
NM_004370.6(COL12A1):c.2637C>T (p.Tyr879=)
|
rs191863996
|
0.00004
|
|
NM_004370.6(COL12A1):c.2693A>G (p.Glu898Gly)
|
rs1180402350
|
0.00004
|
|
NM_004370.6(COL12A1):c.2799C>T (p.Arg933=)
|
rs372499120
|
0.00004
|
|
NM_004370.6(COL12A1):c.2885T>C (p.Ile962Thr)
|
rs746982506
|
0.00004
|
|
NM_004370.6(COL12A1):c.3021A>G (p.Glu1007=)
|
rs368940290
|
0.00004
|
|
NM_004370.6(COL12A1):c.3080G>A (p.Arg1027His)
|
rs79863717
|
0.00004
|
|
NM_004370.6(COL12A1):c.3247A>G (p.Thr1083Ala)
|
rs375221786
|
0.00004
|
|
NM_004370.6(COL12A1):c.3630C>T (p.Ile1210=)
|
rs572531941
|
0.00004
|
|
NM_004370.6(COL12A1):c.3718C>G (p.Leu1240Val)
|
rs368773405
|
0.00004
|
|
NM_004370.6(COL12A1):c.3741C>T (p.Pro1247=)
|
rs371282637
|
0.00004
|
|
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)
|
rs370339027
|
0.00004
|
|
NM_004370.6(COL12A1):c.3861A>G (p.Gln1287=)
|
rs775456285
|
0.00004
|
|
NM_004370.6(COL12A1):c.4275G>T (p.Gly1425=)
|
rs371112796
|
0.00004
|
|
NM_004370.6(COL12A1):c.456A>G (p.Gly152=)
|
rs761930862
|
0.00004
|
|
NM_004370.6(COL12A1):c.4678C>T (p.Arg1560Trp)
|
rs370360673
|
0.00004
|
|
NM_004370.6(COL12A1):c.4682A>T (p.Glu1561Val)
|
rs944222774
|
0.00004
|
|
NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His)
|
rs180718181
|
0.00004
|
|
NM_004370.6(COL12A1):c.4828G>A (p.Val1610Ile)
|
rs374525546
|
0.00004
|
|
NM_004370.6(COL12A1):c.4900G>A (p.Val1634Ile)
|
rs772992461
|
0.00004
|
|
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=)
|
rs771078518
|
0.00004
|
|
NM_004370.6(COL12A1):c.4963G>A (p.Val1655Met)
|
rs749368197
|
0.00004
|
|
NM_004370.6(COL12A1):c.5075T>C (p.Phe1692Ser)
|
rs759692428
|
0.00004
|
|
NM_004370.6(COL12A1):c.5098-13C>T
|
rs186255379
|
0.00004
|
|
NM_004370.6(COL12A1):c.5126T>C (p.Leu1709Ser)
|
rs201810535
|
0.00004
|
|
NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser)
|
rs373020081
|
0.00004
|
|
NM_004370.6(COL12A1):c.5140C>G (p.Leu1714Val)
|
rs753254039
|
0.00004
|
|
NM_004370.6(COL12A1):c.5336G>A (p.Arg1779His)
|
rs748487098
|
0.00004
|
|
NM_004370.6(COL12A1):c.5340G>A (p.Val1780=)
|
rs371016672
|
0.00004
|
|
NM_004370.6(COL12A1):c.5388G>A (p.Glu1796=)
|
rs1479706901
|
0.00004
|
|
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp)
|
rs201973949
|
0.00004
|
|
NM_004370.6(COL12A1):c.5425G>A (p.Val1809Ile)
|
rs757737726
|
0.00004
|
|
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala)
|
rs760315104
|
0.00004
|
|
NM_004370.6(COL12A1):c.546T>C (p.Val182=)
|
rs764254293
|
0.00004
|
|
NM_004370.6(COL12A1):c.5493A>G (p.Glu1831=)
|
rs747217911
|
0.00004
|
|
NM_004370.6(COL12A1):c.5587C>T (p.Arg1863Cys)
|
rs201372309
|
0.00004
|
|
NM_004370.6(COL12A1):c.5770C>T (p.Arg1924Cys)
|
rs775862147
|
0.00004
|
|
NM_004370.6(COL12A1):c.588G>A (p.Gln196=)
|
rs748928908
|
0.00004
|
|
NM_004370.6(COL12A1):c.5895C>T (p.Arg1965=)
|
rs376241836
|
0.00004
|
|
NM_004370.6(COL12A1):c.6066G>A (p.Thr2022=)
|
rs754929219
|
0.00004
|
|
NM_004370.6(COL12A1):c.6067C>T (p.Leu2023=)
|
rs751540913
|
0.00004
|
|
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser)
|
rs771186535
|
0.00004
|
|
NM_004370.6(COL12A1):c.633A>G (p.Pro211=)
|
rs541648868
|
0.00004
|
|
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=)
|
rs553575841
|
0.00004
|
|
NM_004370.6(COL12A1):c.6607+8A>G
|
rs781751102
|
0.00004
|
|
NM_004370.6(COL12A1):c.6608-4G>A
|
rs374995108
|
0.00004
|
|
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser)
|
rs370244195
|
0.00004
|
|
NM_004370.6(COL12A1):c.6878A>G (p.Lys2293Arg)
|
rs1053454286
|
0.00004
|
|
NM_004370.6(COL12A1):c.6910C>T (p.Pro2304Ser)
|
rs747966606
|
0.00004
|
|
NM_004370.6(COL12A1):c.6928A>G (p.Ile2310Val)
|
rs752850582
|
0.00004
|
|
NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp)
|
rs368686970
|
0.00004
|
|
NM_004370.6(COL12A1):c.7005G>C (p.Gly2335=)
|
rs760111437
|
0.00004
|
|
NM_004370.6(COL12A1):c.7086+14C>T
|
rs778933089
|
0.00004
|
|
NM_004370.6(COL12A1):c.7107C>T (p.Ser2369=)
|
rs754178898
|
0.00004
|
|
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met)
|
rs371124522
|
0.00004
|
|
NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met)
|
rs183898615
|
0.00004
|
|
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly)
|
rs202109365
|
0.00004
|
|
NM_004370.6(COL12A1):c.7801G>T (p.Asp2601Tyr)
|
rs757556640
|
0.00004
|
|
NM_004370.6(COL12A1):c.7840C>T (p.Pro2614Ser)
|
rs772870762
|
0.00004
|
|
NM_004370.6(COL12A1):c.794G>A (p.Arg265His)
|
rs778155362
|
0.00004
|
|
NM_004370.6(COL12A1):c.7950+20T>G
|
rs752468536
|
0.00004
|
|
NM_004370.6(COL12A1):c.7976G>C (p.Ser2659Thr)
|
rs773855825
|
0.00004
|
|
NM_004370.6(COL12A1):c.8020A>G (p.Ile2674Val)
|
rs1199162597
|
0.00004
|
|
NM_004370.6(COL12A1):c.8277T>A (p.Gly2759=)
|
rs187901672
|
0.00004
|
|
NM_004370.6(COL12A1):c.8406G>A (p.Pro2802=)
|
rs761216954
|
0.00004
|
|
NM_004370.6(COL12A1):c.8465G>A (p.Arg2822Gln)
|
rs756809634
|
0.00004
|
|
NM_004370.6(COL12A1):c.8469+10T>C
|
rs375332527
|
0.00004
|
|
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu)
|
rs369360559
|
0.00004
|
|
NM_004370.6(COL12A1):c.8609C>T (p.Pro2870Leu)
|
rs751638930
|
0.00004
|
|
NM_004370.6(COL12A1):c.9038C>T (p.Pro3013Leu)
|
rs376161354
|
0.00004
|
|
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)
|
rs746453262
|
0.00004
|
|
NM_006063.3(KLHL41):c.1482A>T (p.Lys494Asn)
|
rs778531652
|
0.00004
|
|
NM_006063.3(KLHL41):c.208A>G (p.Lys70Glu)
|
rs766504219
|
0.00004
|
|
NM_006063.3(KLHL41):c.366C>T (p.Cys122=)
|
rs199941904
|
0.00004
|
|
NM_006063.3(KLHL41):c.408A>G (p.Leu136=)
|
rs916381609
|
0.00004
|
|
NM_006063.3(KLHL41):c.833T>C (p.Val278Ala)
|
rs751923233
|
0.00004
|
|
NM_006790.3(MYOT):c.1152A>G (p.Arg384=)
|
rs199541037
|
0.00004
|
|
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys)
|
rs373489115
|
0.00004
|
|
NM_006790.3(MYOT):c.357-15T>A
|
rs763876363
|
0.00004
|
|
NM_006790.3(MYOT):c.593T>C (p.Val198Ala)
|
rs776439973
|
0.00004
|
|
NM_006790.3(MYOT):c.629C>T (p.Ser210Leu)
|
rs756669574
|
0.00004
|
|
NM_006790.3(MYOT):c.656G>A (p.Arg219Gln)
|
rs745792335
|
0.00004
|
|
NM_006790.3(MYOT):c.943G>A (p.Ala315Thr)
|
rs536024294
|
0.00004
|
|
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys)
|
rs139104492
|
0.00004
|
|
NM_007078.3(LDB3):c.1403A>G (p.Asn468Ser)
|
rs730880129
|
0.00004
|
|
NM_007078.3(LDB3):c.1667A>G (p.Asn556Ser)
|
rs372583830
|
0.00004
|
|
NM_007078.3(LDB3):c.1965C>G (p.Pro655=)
|
rs181475408
|
0.00004
|
|
NM_007078.3(LDB3):c.1972G>A (p.Glu658Lys)
|
rs760563152
|
0.00004
|
|
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn)
|
rs45514002
|
0.00004
|
|
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn)
|
rs748399477
|
0.00004
|
|
NM_007078.3(LDB3):c.306G>A (p.Val102=)
|
rs201715521
|
0.00004
|
|
NM_007078.3(LDB3):c.318G>A (p.Gln106=)
|
rs760617777
|
0.00004
|
|
NM_007078.3(LDB3):c.407C>T (p.Pro136Leu)
|
rs772887402
|
0.00004
|
|
NM_007078.3(LDB3):c.435C>T (p.Ala145=)
|
rs144798369
|
0.00004
|
|
NM_007078.3(LDB3):c.451G>A (p.Ala151Thr)
|
rs780578350
|
0.00004
|
|
NM_007078.3(LDB3):c.498C>A (p.Ala166=)
|
rs780856557
|
0.00004
|
|
NM_007078.3(LDB3):c.530C>T (p.Ala177Val)
|
rs397517224
|
0.00004
|
|
NM_007078.3(LDB3):c.564C>T (p.Gly188=)
|
rs753281302
|
0.00004
|
|
NM_007078.3(LDB3):c.689+15T>C
|
rs375094467
|
0.00004
|
|
NM_007078.3(LDB3):c.689+3861C>T
|
rs754704023
|
0.00004
|
|
NM_007078.3(LDB3):c.690-4617G>A
|
rs754174632
|
0.00004
|
|
NM_007078.3(LDB3):c.764A>G (p.Lys255Arg)
|
rs199739130
|
0.00004
|
|
NM_007078.3(LDB3):c.784G>A (p.Glu262Lys)
|
rs374168618
|
0.00004
|
|
NM_007078.3(LDB3):c.867C>T (p.Asp289=)
|
rs397517227
|
0.00004
|
|
NM_007078.3(LDB3):c.93+12C>T
|
rs746751581
|
0.00004
|
|
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu)
|
rs371649487
|
0.00004
|
|
NM_007078.3(LDB3):c.945G>A (p.Pro315=)
|
rs778570461
|
0.00004
|
|
NM_017534.6(MYH2):c.1160C>T (p.Ala387Val)
|
rs527337606
|
0.00004
|
|
NM_017534.6(MYH2):c.1228G>A (p.Gly410Ser)
|
rs146229690
|
0.00004
|
|
NM_017534.6(MYH2):c.177A>G (p.Lys59=)
|
rs779105792
|
0.00004
|
|
NM_017534.6(MYH2):c.1821C>T (p.Thr607=)
|
rs367835082
|
0.00004
|
|
NM_017534.6(MYH2):c.1830A>C (p.Gly610=)
|
rs1041742576
|
0.00004
|
|
NM_017534.6(MYH2):c.193G>C (p.Glu65Gln)
|
rs767472238
|
0.00004
|
|
NM_017534.6(MYH2):c.2068A>G (p.Met690Val)
|
rs375334939
|
0.00004
|
|
NM_017534.6(MYH2):c.2090A>G (p.His697Arg)
|
rs753195074
|
0.00004
|
|
NM_017534.6(MYH2):c.2265C>T (p.Ile755=)
|
rs146411264
|
0.00004
|
|
NM_017534.6(MYH2):c.2364C>T (p.Ala788=)
|
rs369107023
|
0.00004
|
|
NM_017534.6(MYH2):c.343A>G (p.Ile115Val)
|
rs781687668
|
0.00004
|
|
NM_017534.6(MYH2):c.3621C>T (p.Ala1207=)
|
rs368762166
|
0.00004
|
|
NM_017534.6(MYH2):c.3642C>T (p.Asp1214=)
|
rs776432522
|
0.00004
|
|
NM_017534.6(MYH2):c.3805G>C (p.Glu1269Gln)
|
rs201489001
|
0.00004
|
|
NM_017534.6(MYH2):c.4094G>A (p.Arg1365Lys)
|
rs745629813
|
0.00004
|
|
NM_017534.6(MYH2):c.4152C>T (p.Asp1384=)
|
rs779665835
|
0.00004
|
|
NM_017534.6(MYH2):c.4269G>A (p.Thr1423=)
|
rs762747511
|
0.00004
|
|
NM_017534.6(MYH2):c.4556C>T (p.Thr1519Met)
|
rs138796340
|
0.00004
|
|
NM_017534.6(MYH2):c.5025A>C (p.Glu1675Asp)
|
rs374743981
|
0.00004
|
|
NM_017534.6(MYH2):c.5045G>A (p.Arg1682His)
|
rs145099248
|
0.00004
|
|
NM_017534.6(MYH2):c.5070G>A (p.Glu1690=)
|
rs546668018
|
0.00004
|
|
NM_017534.6(MYH2):c.5105A>G (p.Glu1702Gly)
|
rs769912069
|
0.00004
|
|
NM_017534.6(MYH2):c.5303C>G (p.Ala1768Gly)
|
rs151021565
|
0.00004
|
|
NM_017534.6(MYH2):c.5305G>A (p.Ala1769Thr)
|
rs550869991
|
0.00004
|
|
NM_017534.6(MYH2):c.5539C>T (p.Arg1847Cys)
|
rs774045866
|
0.00004
|
|
NM_017534.6(MYH2):c.5580G>A (p.Thr1860=)
|
rs761795343
|
0.00004
|
|
NM_017534.6(MYH2):c.5791C>T (p.Arg1931Trp)
|
rs544066673
|
0.00004
|
|
NM_017534.6(MYH2):c.600A>G (p.Ala200=)
|
rs199961294
|
0.00004
|
|
NM_017534.6(MYH2):c.905-19T>C
|
rs760446745
|
0.00004
|
|
NM_020451.3(SELENON):c.10G>C (p.Ala4Pro)
|
rs1371866855
|
0.00004
|
|
NM_020451.3(SELENON):c.1110G>A (p.Thr370=)
|
rs779080942
|
0.00004
|
|
NM_020451.3(SELENON):c.1129G>A (p.Val377Met)
|
rs369709974
|
0.00004
|
|
NM_020451.3(SELENON):c.1363G>T (p.Ala455Ser)
|
rs374687219
|
0.00004
|
|
NM_020451.3(SELENON):c.1387+12G>A
|
rs764241591
|
0.00004
|
|
NM_020451.3(SELENON):c.1419G>A (p.Leu473=)
|
rs746181391
|
0.00004
|
|
NM_020451.3(SELENON):c.1455C>T (p.Ser485=)
|
rs575407217
|
0.00004
|
|
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg)
|
rs761631813
|
0.00004
|
|
NM_020451.3(SELENON):c.183+14C>G
|
rs794726949
|
0.00004
|
|
NM_020451.3(SELENON):c.186A>G (p.Glu62=)
|
rs777994853
|
0.00004
|
|
NM_020451.3(SELENON):c.392T>G (p.Leu131Arg)
|
rs774592112
|
0.00004
|
|
NM_020451.3(SELENON):c.417G>A (p.Ala139=)
|
rs535581420
|
0.00004
|
|
NM_020451.3(SELENON):c.942C>T (p.Thr314=)
|
rs747506928
|
0.00004
|
|
NM_032790.4(ORAI1):c.1A>T (p.Met1Leu)
|
rs797044624
|
0.00004
|
|
NM_032790.4(ORAI1):c.215A>G (p.Gln72Arg)
|
rs1411464557
|
0.00004
|
|
NM_032790.4(ORAI1):c.330C>T (p.Asp110=)
|
rs375801854
|
0.00004
|
|
NM_032790.4(ORAI1):c.395C>G (p.Ala132Gly)
|
rs782478364
|
0.00004
|
|
NM_032790.4(ORAI1):c.540C>T (p.Thr180=)
|
rs782560001
|
0.00004
|
|
NM_032790.4(ORAI1):c.581T>C (p.Leu194Pro)
|
rs782753385
|
0.00004
|
|
NM_032790.4(ORAI1):c.682G>A (p.Gly228Ser)
|
rs377456337
|
0.00004
|
|
NM_032790.4(ORAI1):c.871G>C (p.Asp291His)
|
rs781960958
|
0.00004
|
|
NM_138638.5(CFL2):c.93G>C (p.Lys31Asn)
|
rs757341071
|
0.00004
|
|
NM_139343.3(BIN1):c.1240-7C>T
|
rs746676469
|
0.00004
|
|
NM_139343.3(BIN1):c.1264-15G>A
|
rs750540849
|
0.00004
|
|
NM_139343.3(BIN1):c.1281C>T (p.Ala427=)
|
rs373834859
|
0.00004
|
|
NM_139343.3(BIN1):c.1308C>T (p.Ser436=)
|
rs760959487
|
0.00004
|
|
NM_139343.3(BIN1):c.1314C>T (p.Ala438=)
|
rs747474627
|
0.00004
|
|
NM_139343.3(BIN1):c.1371+1G>T
|
rs556129959
|
0.00004
|
|
NM_139343.3(BIN1):c.1394C>T (p.Ala465Val)
|
rs751051376
|
0.00004
|
|
NM_139343.3(BIN1):c.1461C>T (p.Ser487=)
|
rs34647988
|
0.00004
|
|
NM_139343.3(BIN1):c.1462-17C>T
|
rs757885823
|
0.00004
|
|
NM_139343.3(BIN1):c.1573-14C>T
|
rs760955602
|
0.00004
|
|
NM_139343.3(BIN1):c.1588G>A (p.Asp530Asn)
|
rs772786604
|
0.00004
|
|
NM_139343.3(BIN1):c.1674+3G>T
|
rs1420732725
|
0.00004
|
|
NM_139343.3(BIN1):c.279T>C (p.Asp93=)
|
rs770994335
|
0.00004
|
|
NM_139343.3(BIN1):c.438G>A (p.Lys146=)
|
rs760028920
|
0.00004
|
|
NM_139343.3(BIN1):c.520-16G>T
|
rs766300039
|
0.00004
|
|
NM_139343.3(BIN1):c.613-9G>T
|
rs1009608542
|
0.00004
|
|
NM_139343.3(BIN1):c.775-13G>C
|
rs778119265
|
0.00004
|
|
NM_139343.3(BIN1):c.839C>T (p.Thr280Met)
|
rs201872255
|
0.00004
|
|
NM_139343.3(BIN1):c.866C>T (p.Ala289Val)
|
rs771112840
|
0.00004
|
|
NM_139343.3(BIN1):c.903T>C (p.Asp301=)
|
rs141588262
|
0.00004
|
|
NM_139343.3(BIN1):c.960C>T (p.Gly320=)
|
rs758286460
|
0.00004
|
|
NM_139343.3(BIN1):c.968C>T (p.Thr323Met)
|
rs763810794
|
0.00004
|
|
NM_139343.3(BIN1):c.972C>T (p.Pro324=)
|
rs537603056
|
0.00004
|
|
NM_145064.3(STAC3):c.1022C>T (p.Ala341Val)
|
rs753014378
|
0.00004
|
|
NM_145064.3(STAC3):c.486C>T (p.Tyr162=)
|
rs142290435
|
0.00004
|
|
NM_145064.3(STAC3):c.666G>A (p.Gln222=)
|
rs759344334
|
0.00004
|
|
NM_145064.3(STAC3):c.73C>T (p.Arg25Trp)
|
rs747642245
|
0.00004
|
|
NM_152263.4(TPM3):c.36G>A (p.Leu12=)
|
rs748116674
|
0.00004
|
|
NM_152263.4(TPM3):c.495+7G>C
|
rs749792884
|
0.00004
|
|
NM_152393.4(KLHL40):c.117G>A (p.Ala39=)
|
rs375030080
|
0.00004
|
|
NM_152393.4(KLHL40):c.1210C>G (p.Leu404Val)
|
rs760491341
|
0.00004
|
|
NM_152393.4(KLHL40):c.1313+16G>A
|
rs905310492
|
0.00004
|
|
NM_152393.4(KLHL40):c.1404C>T (p.Gly468=)
|
rs766839036
|
0.00004
|
|
NM_152393.4(KLHL40):c.1467G>A (p.Glu489=)
|
rs145033040
|
0.00004
|
|
NM_152393.4(KLHL40):c.1504C>T (p.Leu502Phe)
|
rs766195312
|
0.00004
|
|
NM_152393.4(KLHL40):c.1558G>A (p.Asp520Asn)
|
rs755836871
|
0.00004
|
|
NM_152393.4(KLHL40):c.1832T>C (p.Val611Ala)
|
rs749220097
|
0.00004
|
|
NM_152393.4(KLHL40):c.1835G>A (p.Arg612Gln)
|
rs143516959
|
0.00004
|
|
NM_152393.4(KLHL40):c.486G>A (p.Leu162=)
|
rs375754573
|
0.00004
|
|
NM_152393.4(KLHL40):c.511G>A (p.Gly171Arg)
|
rs199513801
|
0.00004
|
|
NM_152393.4(KLHL40):c.590C>A (p.Ala197Glu)
|
rs757677971
|
0.00004
|
|
NM_152393.4(KLHL40):c.670G>T (p.Val224Leu)
|
rs757444389
|
0.00004
|
|
NM_152393.4(KLHL40):c.834C>T (p.Ala278=)
|
rs371152870
|
0.00004
|
|
NM_198271.5(LMOD3):c.1335A>G (p.Glu445=)
|
rs759597732
|
0.00004
|
|
NM_198271.5(LMOD3):c.150G>A (p.Val50=)
|
rs371717342
|
0.00004
|
|
NM_198271.5(LMOD3):c.1659G>T (p.Val553=)
|
rs947092258
|
0.00004
|
|
NM_198271.5(LMOD3):c.171A>G (p.Gln57=)
|
rs756313861
|
0.00004
|
|
NM_198271.5(LMOD3):c.331C>T (p.Arg111Cys)
|
rs373887230
|
0.00004
|
|
NM_198271.5(LMOD3):c.332G>A (p.Arg111His)
|
rs370401036
|
0.00004
|
|
NM_198271.5(LMOD3):c.466G>C (p.Asp156His)
|
rs371587555
|
0.00004
|
|
NM_198271.5(LMOD3):c.608C>G (p.Pro203Arg)
|
rs775919681
|
0.00004
|
|
NM_198271.5(LMOD3):c.920G>A (p.Arg307His)
|
rs756497709
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.1040C>T (p.Thr347Met)
|
rs375755312
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.1098A>C (p.Ser366=)
|
rs779640034
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.1661-11C>G
|
rs748395499
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.1679G>A (p.Gly560Asp)
|
rs749378051
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.1803C>T (p.Ser601=)
|
rs1431593729
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.1959G>T (p.Lys653Asn)
|
rs1449765785
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.2219C>T (p.Ser740Phe)
|
rs760799226
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.2282T>A (p.Phe761Tyr)
|
rs765569869
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.271A>C (p.Asn91His)
|
rs1256565263
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.328C>T (p.Arg110Cys)
|
rs750086425
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.345C>T (p.Arg115=)
|
rs148888682
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.788-20A>G
|
rs773057901
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.950A>G (p.Asn317Ser)
|
rs201556180
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.973G>A (p.Ala325Thr)
|
rs760554761
|
0.00004
|
|
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)
|
rs374211312
|
0.00004
|
|
NM_213720.3(CHCHD10):c.262-4C>T
|
rs1021130344
|
0.00004
|
|
NM_213720.3(CHCHD10):c.382G>T (p.Ala128Ser)
|
rs371437007
|
0.00004
|
|
NM_213720.3(CHCHD10):c.42-2A>G
|
rs1354578196
|
0.00004
|
|
NM_000036.3(AMPD1):c.1097G>A (p.Arg366His)
|
rs372451247
|
0.00003
|
|
NM_000036.3(AMPD1):c.116C>A (p.Ser39Tyr)
|
rs758334449
|
0.00003
|
|
NM_000036.3(AMPD1):c.1236G>A (p.Ala412=)
|
rs141829342
|
0.00003
|
|
NM_000036.3(AMPD1):c.1273C>T (p.Arg425Cys)
|
rs187527797
|
0.00003
|
|
NM_000036.3(AMPD1):c.1687G>C (p.Gly563Arg)
|
rs370481249
|
0.00003
|
|
NM_000036.3(AMPD1):c.1800+15C>G
|
rs570359428
|
0.00003
|
|
NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln)
|
rs886045093
|
0.00003
|
|
NM_000036.3(AMPD1):c.2173A>G (p.Met725Val)
|
rs778481612
|
0.00003
|
|
NM_000036.3(AMPD1):c.223C>T (p.Arg75Cys)
|
rs12566550
|
0.00003
|
|
NM_000036.3(AMPD1):c.376T>C (p.Ser126Pro)
|
rs1183959177
|
0.00003
|
|
NM_000036.3(AMPD1):c.500G>A (p.Arg167Gln)
|
rs368656142
|
0.00003
|
|
NM_000036.3(AMPD1):c.617A>G (p.Tyr206Cys)
|
rs376201207
|
0.00003
|
|
NM_000036.3(AMPD1):c.665C>T (p.Ala222Val)
|
rs369685849
|
0.00003
|
|
NM_000036.3(AMPD1):c.801C>G (p.Leu267=)
|
rs536037850
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)
|
rs1223065368
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=)
|
rs143525004
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.371-6C>A
|
rs782195445
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=)
|
rs397515743
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=)
|
rs150583937
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)
|
rs375151766
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln)
|
rs782653725
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)
|
rs200909606
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys)
|
rs782498694
|
0.00003
|
|
NM_000182.5(HADHA):c.1014C>T (p.Ala338=)
|
rs748021991
|
0.00003
|
|
NM_000182.5(HADHA):c.1174G>A (p.Ala392Thr)
|
rs534553558
|
0.00003
|
|
NM_000182.5(HADHA):c.12C>T (p.Cys4=)
|
rs938902936
|
0.00003
|
|
NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser)
|
rs958717402
|
0.00003
|
|
NM_000182.5(HADHA):c.1479+9G>A
|
rs761058783
|
0.00003
|
|
NM_000182.5(HADHA):c.1620+9C>G
|
rs772786562
|
0.00003
|
|
NM_000182.5(HADHA):c.1683C>A (p.Ile561=)
|
rs372266559
|
0.00003
|
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
|
NM_000182.5(HADHA):c.1923G>A (p.Glu641=)
|
rs754472544
|
0.00003
|
|
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe)
|
rs765213828
|
0.00003
|
|
NM_000182.5(HADHA):c.777G>A (p.Lys259=)
|
rs142071869
|
0.00003
|
|
NM_000182.5(HADHA):c.828A>G (p.Pro276=)
|
rs765819381
|
0.00003
|
|
NM_000182.5(HADHA):c.954C>T (p.Ala318=)
|
rs755595692
|
0.00003
|
|
NM_000183.3(HADHB):c.135G>A (p.Thr45=)
|
rs574464531
|
0.00003
|
|
NM_000183.3(HADHB):c.1417C>A (p.Pro473Thr)
|
rs942477332
|
0.00003
|
|
NM_000183.3(HADHB):c.631-15T>C
|
rs767590983
|
0.00003
|
|
NM_000252.3(MTM1):c.1209C>T (p.Phe403=)
|
rs782407568
|
0.00003
|
|
NM_000252.3(MTM1):c.1629C>T (p.Pro543=)
|
rs781856935
|
0.00003
|
|
NM_000252.3(MTM1):c.1779G>A (p.Ser593=)
|
rs782375296
|
0.00003
|
|
NM_000252.3(MTM1):c.445-17T>G
|
rs73250563
|
0.00003
|
|
NM_000252.3(MTM1):c.480C>T (p.Asn160=)
|
rs782480422
|
0.00003
|
|
NM_000252.3(MTM1):c.508G>C (p.Val170Leu)
|
rs782274835
|
0.00003
|
|
NM_000252.3(MTM1):c.55A>C (p.Ile19Leu)
|
rs1408923946
|
0.00003
|
|
NM_000252.3(MTM1):c.64-9T>C
|
rs189752798
|
0.00003
|
|
NM_000252.3(MTM1):c.999A>G (p.Glu333=)
|
rs782302438
|
0.00003
|
|
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)
|
rs371410845
|
0.00003
|
|
NM_001100.4(ACTA1):c.454+10C>A
|
rs1259209386
|
0.00003
|
|
NM_001100.4(ACTA1):c.774C>T (p.Arg258=)
|
rs755247915
|
0.00003
|
|
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)
|
rs121909523
|
0.00003
|
|
NM_001100.4(ACTA1):c.809-14_809-13insA
|
rs749384329
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.1346G>T (p.Gly449Val)
|
rs1216666979
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.228C>G (p.Asp76Glu)
|
rs777431652
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.230A>G (p.Glu77Gly)
|
rs1384295949
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.240G>T (p.Gln80His)
|
rs1040368554
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.24G>A (p.Leu8=)
|
rs753529968
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.289C>T (p.Leu97=)
|
rs970032872
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.329G>A (p.Cys110Tyr)
|
rs1479308750
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.358G>A (p.Asp120Asn)
|
rs1403660333
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.558G>C (p.Ala186=)
|
rs775940623
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.75G>C (p.Leu25=)
|
rs1189278227
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.768C>T (p.Phe256=)
|
rs758252719
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.810G>C (p.Thr270=)
|
rs912566376
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.861C>T (p.Phe287=)
|
rs777259450
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.888C>T (p.Ala296=)
|
rs529828976
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.900C>T (p.Cys300=)
|
rs778682102
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.921C>T (p.Leu307=)
|
rs773691737
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.937C>T (p.Arg313Trp)
|
rs1177976401
|
0.00003
|
|
NM_001164508.2(NEB):c.10029G>C (p.Lys3343Asn)
|
rs183321773
|
0.00003
|
|
NM_001164508.2(NEB):c.10127A>G (p.Tyr3376Cys)
|
rs754298562
|
0.00003
|
|
NM_001164508.2(NEB):c.10231G>A (p.Ala3411Thr)
|
rs727504034
|
0.00003
|
|
NM_001164508.2(NEB):c.1035+7G>A
|
rs748388746
|
0.00003
|
|
NM_001164508.2(NEB):c.104C>T (p.Thr35Met)
|
rs749153659
|
0.00003
|
|
NM_001164508.2(NEB):c.10578A>G (p.Ala3526=)
|
rs760118695
|
0.00003
|
|
NM_001164508.2(NEB):c.10676G>A (p.Arg3559His)
|
rs376558062
|
0.00003
|
|
NM_001164508.2(NEB):c.10847G>A (p.Arg3616Gln)
|
rs774454536
|
0.00003
|
|
NM_001164508.2(NEB):c.10860C>A (p.Asp3620Glu)
|
rs748243107
|
0.00003
|
|
NM_001164508.2(NEB):c.10872C>T (p.Asp3624=)
|
rs781328083
|
0.00003
|
|
NM_001164508.2(NEB):c.10913G>T (p.Gly3638Val)
|
rs370161504
|
0.00003
|
|
NM_001164508.2(NEB):c.10925T>C (p.Ile3642Thr)
|
rs201614105
|
0.00003
|
|
NM_001164508.2(NEB):c.11033C>T (p.Pro3678Leu)
|
rs752318455
|
0.00003
|
|
NM_001164508.2(NEB):c.11072A>G (p.Asn3691Ser)
|
rs1184035076
|
0.00003
|
|
NM_001164508.2(NEB):c.11234G>T (p.Arg3745Leu)
|
rs765379397
|
0.00003
|
|
NM_001164508.2(NEB):c.11361G>A (p.Pro3787=)
|
rs200043736
|
0.00003
|
|
NM_001164508.2(NEB):c.11562C>T (p.Asp3854=)
|
rs376268872
|
0.00003
|
|
NM_001164508.2(NEB):c.11570A>G (p.Gln3857Arg)
|
rs760525587
|
0.00003
|
|
NM_001164508.2(NEB):c.11581G>T (p.Ala3861Ser)
|
rs750748717
|
0.00003
|
|
NM_001164508.2(NEB):c.11671G>A (p.Glu3891Lys)
|
rs753450456
|
0.00003
|
|
NM_001164508.2(NEB):c.11683A>G (p.Arg3895Gly)
|
rs1015014078
|
0.00003
|
|
NM_001164508.2(NEB):c.11766A>T (p.Glu3922Asp)
|
rs368162982
|
0.00003
|
|
NM_001164508.2(NEB):c.11806-7C>A
|
rs779713133
|
0.00003
|
|
NM_001164508.2(NEB):c.11910+1G>A
|
rs774495973
|
0.00003
|
|
NM_001164508.2(NEB):c.11915T>G (p.Leu3972Arg)
|
rs769145449
|
0.00003
|
|
NM_001164508.2(NEB):c.12010G>A (p.Ala4004Thr)
|
rs750705899
|
0.00003
|
|
NM_001164508.2(NEB):c.12018+1G>A
|
rs762278237
|
0.00003
|
|
NM_001164508.2(NEB):c.12200T>C (p.Ile4067Thr)
|
rs746008098
|
0.00003
|
|
NM_001164508.2(NEB):c.12210C>G (p.Ala4070=)
|
rs749556191
|
0.00003
|
|
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His)
|
rs376019368
|
0.00003
|
|
NM_001164508.2(NEB):c.12288C>T (p.Asn4096=)
|
rs755521679
|
0.00003
|
|
NM_001164508.2(NEB):c.1230T>C (p.Asp410=)
|
rs78892743
|
0.00003
|
|
NM_001164508.2(NEB):c.125A>G (p.Tyr42Cys)
|
rs756162358
|
0.00003
|
|
NM_001164508.2(NEB):c.12639+11C>T
|
rs1057523954
|
0.00003
|
|
NM_001164508.2(NEB):c.12666C>T (p.Asp4222=)
|
rs1310326732
|
0.00003
|
|
NM_001164508.2(NEB):c.12747+4C>T
|
rs1436792470
|
0.00003
|
|
NM_001164508.2(NEB):c.1339A>G (p.Met447Val)
|
rs774284999
|
0.00003
|
|
NM_001164508.2(NEB):c.1365+14C>A
|
rs750849844
|
0.00003
|
|
NM_001164508.2(NEB):c.16791C>T (p.Ala5597=)
|
rs1424776223
|
0.00003
|
|
NM_001164508.2(NEB):c.16823C>T (p.Thr5608Met)
|
rs200952733
|
0.00003
|
|
NM_001164508.2(NEB):c.16954A>G (p.Ile5652Val)
|
rs767425744
|
0.00003
|
|
NM_001164508.2(NEB):c.17101A>G (p.Arg5701Gly)
|
rs1332674015
|
0.00003
|
|
NM_001164508.2(NEB):c.17118+8G>A
|
rs767062620
|
0.00003
|
|
NM_001164508.2(NEB):c.17129A>G (p.Lys5710Arg)
|
rs200501968
|
0.00003
|
|
NM_001164508.2(NEB):c.1713A>G (p.Lys571=)
|
rs753119399
|
0.00003
|
|
NM_001164508.2(NEB):c.1735G>T (p.Ala579Ser)
|
rs758068422
|
0.00003
|
|
NM_001164508.2(NEB):c.17445T>C (p.Ala5815=)
|
rs1446851456
|
0.00003
|
|
NM_001164508.2(NEB):c.17520G>A (p.Ala5840=)
|
rs372786852
|
0.00003
|
|
NM_001164508.2(NEB):c.17574G>A (p.Thr5858=)
|
rs780714195
|
0.00003
|
|
NM_001164508.2(NEB):c.17635-15_17635-14insG
|
rs1359883456
|
0.00003
|
|
NM_001164508.2(NEB):c.17677A>G (p.Thr5893Ala)
|
rs762095177
|
0.00003
|
|
NM_001164508.2(NEB):c.17922G>T (p.Leu5974=)
|
rs1327308371
|
0.00003
|
|
NM_001164508.2(NEB):c.18012T>C (p.Ala6004=)
|
rs760396389
|
0.00003
|
|
NM_001164508.2(NEB):c.18033C>T (p.Ala6011=)
|
rs771890971
|
0.00003
|
|
NM_001164508.2(NEB):c.18074G>A (p.Arg6025His)
|
rs751957350
|
0.00003
|
|
NM_001164508.2(NEB):c.18472-1G>C
|
rs1203257517
|
0.00003
|
|
NM_001164508.2(NEB):c.18737A>G (p.His6246Arg)
|
rs760552939
|
0.00003
|
|
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=)
|
rs374874999
|
0.00003
|
|
NM_001164508.2(NEB):c.18892-19T>C
|
rs777342340
|
0.00003
|
|
NM_001164508.2(NEB):c.1896T>A (p.Asp632Glu)
|
rs978952705
|
0.00003
|
|
NM_001164508.2(NEB):c.18981C>T (p.Tyr6327=)
|
rs761964375
|
0.00003
|
|
NM_001164508.2(NEB):c.19082G>A (p.Ser6361Asn)
|
rs768390701
|
0.00003
|
|
NM_001164508.2(NEB):c.19101+4C>T
|
rs778716460
|
0.00003
|
|
NM_001164508.2(NEB):c.19245C>T (p.Thr6415=)
|
rs967486464
|
0.00003
|
|
NM_001164508.2(NEB):c.19272G>A (p.Leu6424=)
|
rs772134778
|
0.00003
|
|
NM_001164508.2(NEB):c.19625A>G (p.Asp6542Gly)
|
rs753830499
|
0.00003
|
|
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His)
|
rs185999504
|
0.00003
|
|
NM_001164508.2(NEB):c.19801G>A (p.Val6601Met)
|
rs553079055
|
0.00003
|
|
NM_001164508.2(NEB):c.19836+1G>A
|
rs1446930968
|
0.00003
|
|
NM_001164508.2(NEB):c.19836C>T (p.Asp6612=)
|
rs371194689
|
0.00003
|
|
NM_001164508.2(NEB):c.20154C>T (p.Ser6718=)
|
rs753253128
|
0.00003
|
|
NM_001164508.2(NEB):c.20227C>T (p.Arg6743Cys)
|
rs762552898
|
0.00003
|
|
NM_001164508.2(NEB):c.20367+15G>C
|
rs886054931
|
0.00003
|
|
NM_001164508.2(NEB):c.20434A>G (p.Met6812Val)
|
rs370764959
|
0.00003
|
|
NM_001164508.2(NEB):c.20578-8A>G
|
rs368526624
|
0.00003
|
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
|
NM_001164508.2(NEB):c.20670G>A (p.Lys6890=)
|
rs768041857
|
0.00003
|
|
NM_001164508.2(NEB):c.2074C>T (p.His692Tyr)
|
rs753761094
|
0.00003
|
|
NM_001164508.2(NEB):c.20847G>A (p.Thr6949=)
|
rs759425229
|
0.00003
|
|
NM_001164508.2(NEB):c.20966A>T (p.Tyr6989Phe)
|
rs537451022
|
0.00003
|
|
NM_001164508.2(NEB):c.20972G>A (p.Arg6991His)
|
rs781020561
|
0.00003
|
|
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)
|
rs769345284
|
0.00003
|
|
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys)
|
rs755165133
|
0.00003
|
|
NM_001164508.2(NEB):c.21276T>C (p.Asn7092=)
|
rs780045200
|
0.00003
|
|
NM_001164508.2(NEB):c.21504del (p.Asn7169fs)
|
rs934955715
|
0.00003
|
|
NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys)
|
rs200826420
|
0.00003
|
|
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg)
|
rs200250294
|
0.00003
|
|
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=)
|
rs539800267
|
0.00003
|
|
NM_001164508.2(NEB):c.22162-14C>G
|
rs377752982
|
0.00003
|
|
NM_001164508.2(NEB):c.22429G>A (p.Gly7477Ser)
|
rs764674361
|
0.00003
|
|
NM_001164508.2(NEB):c.22433G>A (p.Arg7478His)
|
rs767207985
|
0.00003
|
|
NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val)
|
rs374581669
|
0.00003
|
|
NM_001164508.2(NEB):c.22479+7del
|
rs750798983
|
0.00003
|
|
NM_001164508.2(NEB):c.22776A>G (p.Lys7592=)
|
rs757671458
|
0.00003
|
|
NM_001164508.2(NEB):c.22800+1G>A
|
rs1302373559
|
0.00003
|
|
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln)
|
rs766321668
|
0.00003
|
|
NM_001164508.2(NEB):c.23189A>G (p.Asn7730Ser)
|
rs775756899
|
0.00003
|
|
NM_001164508.2(NEB):c.23416C>G (p.Gln7806Glu)
|
rs750689059
|
0.00003
|
|
NM_001164508.2(NEB):c.23425C>T (p.Arg7809Trp)
|
rs762220487
|
0.00003
|
|
NM_001164508.2(NEB):c.23557-4C>T
|
rs368774294
|
0.00003
|
|
NM_001164508.2(NEB):c.23595C>T (p.Ile7865=)
|
rs370825760
|
0.00003
|
|
NM_001164508.2(NEB):c.23630C>T (p.Thr7877Ile)
|
rs772064998
|
0.00003
|
|
NM_001164508.2(NEB):c.24058A>G (p.Ile8020Val)
|
rs144634228
|
0.00003
|
|
NM_001164508.2(NEB):c.24275A>G (p.Lys8092Arg)
|
rs200761405
|
0.00003
|
|
NM_001164508.2(NEB):c.24299C>T (p.Ser8100Leu)
|
rs759261311
|
0.00003
|
|
NM_001164508.2(NEB):c.24350C>T (p.Pro8117Leu)
|
rs541150975
|
0.00003
|
|
NM_001164508.2(NEB):c.24457G>A (p.Val8153Ile)
|
rs1482662133
|
0.00003
|
|
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)
|
rs754272530
|
0.00003
|
|
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys)
|
rs200664592
|
0.00003
|
|
NM_001164508.2(NEB):c.24640A>G (p.Arg8214Gly)
|
rs772803200
|
0.00003
|
|
NM_001164508.2(NEB):c.24649C>T (p.Arg8217Cys)
|
rs542275170
|
0.00003
|
|
NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu)
|
rs571935637
|
0.00003
|
|
NM_001164508.2(NEB):c.24812C>T (p.Ala8271Val)
|
rs749977606
|
0.00003
|
|
NM_001164508.2(NEB):c.24827C>G (p.Thr8276Ser)
|
rs760442721
|
0.00003
|
|
NM_001164508.2(NEB):c.25117A>G (p.Asn8373Asp)
|
rs1416760785
|
0.00003
|
|
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys)
|
rs371600800
|
0.00003
|
|
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)
|
rs749034995
|
0.00003
|
|
NM_001164508.2(NEB):c.25184G>A (p.Arg8395Gln)
|
rs779983347
|
0.00003
|
|
NM_001164508.2(NEB):c.25445C>G (p.Ala8482Gly)
|
rs774603877
|
0.00003
|
|
NM_001164508.2(NEB):c.25470A>G (p.Gly8490=)
|
rs778502509
|
0.00003
|
|
NM_001164508.2(NEB):c.2550G>A (p.Lys850=)
|
rs1012090134
|
0.00003
|
|
NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr)
|
rs775823432
|
0.00003
|
|
NM_001164508.2(NEB):c.2780C>G (p.Pro927Arg)
|
rs201124975
|
0.00003
|
|
NM_001164508.2(NEB):c.2811G>A (p.Lys937=)
|
rs756495284
|
0.00003
|
|
NM_001164508.2(NEB):c.2944-16T>C
|
rs1057224357
|
0.00003
|
|
NM_001164508.2(NEB):c.3246G>A (p.Ala1082=)
|
rs372664114
|
0.00003
|
|
NM_001164508.2(NEB):c.3399A>G (p.Thr1133=)
|
rs543961404
|
0.00003
|
|
NM_001164508.2(NEB):c.339C>T (p.Tyr113=)
|
rs546510007
|
0.00003
|
|
NM_001164508.2(NEB):c.340G>A (p.Ala114Thr)
|
rs779928749
|
0.00003
|
|
NM_001164508.2(NEB):c.3438C>T (p.Val1146=)
|
rs373118761
|
0.00003
|
|
NM_001164508.2(NEB):c.3567T>A (p.Asp1189Glu)
|
rs781515499
|
0.00003
|
|
NM_001164508.2(NEB):c.3640G>A (p.Glu1214Lys)
|
rs764769462
|
0.00003
|
|
NM_001164508.2(NEB):c.3658G>A (p.Gly1220Ser)
|
rs1320792762
|
0.00003
|
|
NM_001164508.2(NEB):c.3696A>G (p.Pro1232=)
|
rs201420007
|
0.00003
|
|
NM_001164508.2(NEB):c.384A>G (p.Val128=)
|
rs1367507542
|
0.00003
|
|
NM_001164508.2(NEB):c.403G>A (p.Val135Ile)
|
rs373729655
|
0.00003
|
|
NM_001164508.2(NEB):c.4204A>G (p.Asn1402Asp)
|
rs1219268531
|
0.00003
|
|
NM_001164508.2(NEB):c.4341C>T (p.Ile1447=)
|
rs576286059
|
0.00003
|
|
NM_001164508.2(NEB):c.4393G>A (p.Asp1465Asn)
|
rs745382279
|
0.00003
|
|
NM_001164508.2(NEB):c.448G>A (p.Val150Ile)
|
rs376288418
|
0.00003
|
|
NM_001164508.2(NEB):c.475C>T (p.His159Tyr)
|
rs776746330
|
0.00003
|
|
NM_001164508.2(NEB):c.4835G>A (p.Arg1612His)
|
rs534531948
|
0.00003
|
|
NM_001164508.2(NEB):c.5121A>G (p.Ala1707=)
|
rs371962475
|
0.00003
|
|
NM_001164508.2(NEB):c.5149C>T (p.Arg1717Cys)
|
rs769725005
|
0.00003
|
|
NM_001164508.2(NEB):c.5182G>A (p.Ala1728Thr)
|
rs371639863
|
0.00003
|
|
NM_001164508.2(NEB):c.5581G>A (p.Gly1861Arg)
|
rs1413371715
|
0.00003
|
|
NM_001164508.2(NEB):c.5623A>G (p.Met1875Val)
|
rs201940342
|
0.00003
|
|
NM_001164508.2(NEB):c.5671G>A (p.Ala1891Thr)
|
rs1553484895
|
0.00003
|
|
NM_001164508.2(NEB):c.5828T>C (p.Leu1943Pro)
|
rs531692437
|
0.00003
|
|
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val)
|
rs200649387
|
0.00003
|
|
NM_001164508.2(NEB):c.586G>A (p.Val196Ile)
|
rs201433028
|
0.00003
|
|
NM_001164508.2(NEB):c.6067A>G (p.Met2023Val)
|
rs779481792
|
0.00003
|
|
NM_001164508.2(NEB):c.6075+18del
|
rs1444018232
|
0.00003
|
|
NM_001164508.2(NEB):c.6135T>C (p.Asp2045=)
|
rs886042654
|
0.00003
|
|
NM_001164508.2(NEB):c.6244G>A (p.Glu2082Lys)
|
rs372667149
|
0.00003
|
|
NM_001164508.2(NEB):c.6315C>T (p.Asn2105=)
|
rs752114805
|
0.00003
|
|
NM_001164508.2(NEB):c.6325A>G (p.Thr2109Ala)
|
rs578023308
|
0.00003
|
|
NM_001164508.2(NEB):c.6400A>G (p.Asn2134Asp)
|
rs751935179
|
0.00003
|
|
NM_001164508.2(NEB):c.6415C>G (p.His2139Asp)
|
rs886044641
|
0.00003
|
|
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val)
|
rs375256600
|
0.00003
|
|
NM_001164508.2(NEB):c.6495+6G>A
|
rs1022052250
|
0.00003
|
|
NM_001164508.2(NEB):c.65A>G (p.Glu22Gly)
|
rs1335474782
|
0.00003
|
|
NM_001164508.2(NEB):c.6613C>T (p.Arg2205Cys)
|
rs577410545
|
0.00003
|
|
NM_001164508.2(NEB):c.6631T>C (p.Phe2211Leu)
|
rs369374856
|
0.00003
|
|
NM_001164508.2(NEB):c.6807+11A>G
|
rs745490728
|
0.00003
|
|
NM_001164508.2(NEB):c.7167A>G (p.Thr2389=)
|
rs768429146
|
0.00003
|
|
NM_001164508.2(NEB):c.7252T>A (p.Trp2418Arg)
|
rs780437384
|
0.00003
|
|
NM_001164508.2(NEB):c.7545C>T (p.Tyr2515=)
|
rs776265168
|
0.00003
|
|
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=)
|
rs371570995
|
0.00003
|
|
NM_001164508.2(NEB):c.7627C>T (p.Arg2543Trp)
|
rs368148074
|
0.00003
|
|
NM_001164508.2(NEB):c.7808C>T (p.Pro2603Leu)
|
rs1259492469
|
0.00003
|
|
NM_001164508.2(NEB):c.7917T>C (p.Asp2639=)
|
rs745410848
|
0.00003
|
|
NM_001164508.2(NEB):c.7957-9C>A
|
rs747482412
|
0.00003
|
|
NM_001164508.2(NEB):c.8393A>G (p.Tyr2798Cys)
|
rs750799792
|
0.00003
|
|
NM_001164508.2(NEB):c.8738T>C (p.Ile2913Thr)
|
rs368373064
|
0.00003
|
|
NM_001164508.2(NEB):c.8873C>T (p.Ala2958Val)
|
rs768058972
|
0.00003
|
|
NM_001164508.2(NEB):c.9066C>T (p.Ile3022=)
|
rs751919085
|
0.00003
|
|
NM_001164508.2(NEB):c.9111T>C (p.Tyr3037=)
|
rs1488961406
|
0.00003
|
|
NM_001164508.2(NEB):c.9132A>G (p.Gln3044=)
|
rs1237001968
|
0.00003
|
|
NM_001164508.2(NEB):c.9135T>C (p.Leu3045=)
|
rs1443551422
|
0.00003
|
|
NM_001164508.2(NEB):c.9144T>C (p.His3048=)
|
rs1279204640
|
0.00003
|
|
NM_001164508.2(NEB):c.9151G>A (p.Ala3051Thr)
|
rs751613683
|
0.00003
|
|
NM_001164508.2(NEB):c.9154C>T (p.Arg3052Trp)
|
rs375216659
|
0.00003
|
|
NM_001164508.2(NEB):c.9285G>A (p.Val3095=)
|
rs1306359674
|
0.00003
|
|
NM_001164508.2(NEB):c.9366C>A (p.Asp3122Glu)
|
rs1271867113
|
0.00003
|
|
NM_001164508.2(NEB):c.9473C>G (p.Ser3158Cys)
|
rs377606986
|
0.00003
|
|
NM_001164508.2(NEB):c.9619-14A>G
|
rs374444328
|
0.00003
|
|
NM_001164508.2(NEB):c.9729A>G (p.Leu3243=)
|
rs767498749
|
0.00003
|
|
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser)
|
rs139548702
|
0.00003
|
|
NM_001164508.2(NEB):c.9769G>A (p.Asp3257Asn)
|
rs780275367
|
0.00003
|
|
NM_001164508.2(NEB):c.9799G>T (p.Ala3267Ser)
|
rs751450878
|
0.00003
|
|
NM_001164508.2(NEB):c.9827G>A (p.Ser3276Asn)
|
rs1168444365
|
0.00003
|
|
NM_001256545.2(MEGF10):c.1058G>A (p.Arg353His)
|
rs146940427
|
0.00003
|
|
NM_001256545.2(MEGF10):c.1100G>A (p.Arg367Gln)
|
rs371522377
|
0.00003
|
|
NM_001256545.2(MEGF10):c.1263T>C (p.Cys421=)
|
rs146279465
|
0.00003
|
|
NM_001256545.2(MEGF10):c.1739A>G (p.Asn580Ser)
|
rs771074779
|
0.00003
|
|
NM_001256545.2(MEGF10):c.1868G>A (p.Arg623His)
|
rs766501362
|
0.00003
|
|
NM_001256545.2(MEGF10):c.1894G>A (p.Val632Ile)
|
rs561610841
|
0.00003
|
|
NM_001256545.2(MEGF10):c.1906G>A (p.Gly636Arg)
|
rs201512679
|
0.00003
|
|
NM_001256545.2(MEGF10):c.2050A>T (p.Ile684Phe)
|
rs772306149
|
0.00003
|
|
NM_001256545.2(MEGF10):c.2082G>T (p.Trp694Cys)
|
rs896056668
|
0.00003
|
|
NM_001256545.2(MEGF10):c.2145G>A (p.Thr715=)
|
rs200994008
|
0.00003
|
|
NM_001256545.2(MEGF10):c.2150A>G (p.Asn717Ser)
|
rs116135607
|
0.00003
|
|
NM_001256545.2(MEGF10):c.2182G>A (p.Asp728Asn)
|
rs781645558
|
0.00003
|
|
NM_001256545.2(MEGF10):c.2341A>G (p.Met781Val)
|
rs1293120056
|
0.00003
|
|
NM_001256545.2(MEGF10):c.2579C>T (p.Ala860Val)
|
rs777294451
|
0.00003
|
|
NM_001256545.2(MEGF10):c.2704G>A (p.Val902Ile)
|
rs138034219
|
0.00003
|
|
NM_001256545.2(MEGF10):c.2864A>C (p.Asn955Thr)
|
rs1353393054
|
0.00003
|
|
NM_001256545.2(MEGF10):c.3191T>A (p.Ile1064Asn)
|
rs746195971
|
0.00003
|
|
NM_001256545.2(MEGF10):c.3196A>T (p.Asn1066Tyr)
|
rs200848884
|
0.00003
|
|
NM_001256545.2(MEGF10):c.3229G>A (p.Val1077Ile)
|
rs376652467
|
0.00003
|
|
NM_001256545.2(MEGF10):c.3354C>G (p.Asp1118Glu)
|
rs372767788
|
0.00003
|
|
NM_001256545.2(MEGF10):c.482A>G (p.Asn161Ser)
|
rs919641160
|
0.00003
|
|
NM_001256545.2(MEGF10):c.512C>T (p.Ala171Val)
|
rs201824269
|
0.00003
|
|
NM_001256545.2(MEGF10):c.610G>A (p.Asp204Asn)
|
rs764004112
|
0.00003
|
|
NM_001256545.2(MEGF10):c.775T>A (p.Trp259Arg)
|
rs559323248
|
0.00003
|
|
NM_001256545.2(MEGF10):c.781-15T>C
|
rs767842462
|
0.00003
|
|
NM_001256545.2(MEGF10):c.912G>A (p.Gly304=)
|
rs754366209
|
0.00003
|
|
NM_001267550.2(TTN):c.100116C>T (p.Phe33372=)
|
rs770089807
|
0.00003
|
|
NM_001267550.2(TTN):c.100284C>T (p.Tyr33428=)
|
rs1440086089
|
0.00003
|
|
NM_001267550.2(TTN):c.100390G>A (p.Glu33464Lys)
|
rs374920916
|
0.00003
|
|
NM_001267550.2(TTN):c.100398T>C (p.Arg33466=)
|
rs538623758
|
0.00003
|
|
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile)
|
rs727503678
|
0.00003
|
|
NM_001267550.2(TTN):c.100829G>A (p.Gly33610Asp)
|
rs373754986
|
0.00003
|
|
NM_001267550.2(TTN):c.101040G>T (p.Lys33680Asn)
|
rs776913696
|
0.00003
|
|
NM_001267550.2(TTN):c.101108G>A (p.Arg33703Gln)
|
rs576025689
|
0.00003
|
|
NM_001267550.2(TTN):c.10110A>G (p.Gly3370=)
|
rs990895374
|
0.00003
|
|
NM_001267550.2(TTN):c.102105T>A (p.Asp34035Glu)
|
rs370647845
|
0.00003
|
|
NM_001267550.2(TTN):c.102125T>C (p.Ile34042Thr)
|
rs373173599
|
0.00003
|
|
NM_001267550.2(TTN):c.102257G>C (p.Arg34086Thr)
|
rs569650065
|
0.00003
|
|
NM_001267550.2(TTN):c.102645T>C (p.Tyr34215=)
|
rs763412391
|
0.00003
|
|
NM_001267550.2(TTN):c.102752T>A (p.Met34251Lys)
|
rs750864230
|
0.00003
|
|
NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe)
|
rs773984912
|
0.00003
|
|
NM_001267550.2(TTN):c.102823G>A (p.Val34275Ile)
|
rs879063086
|
0.00003
|
|
NM_001267550.2(TTN):c.102867A>G (p.Val34289=)
|
rs754236657
|
0.00003
|
|
NM_001267550.2(TTN):c.103364G>A (p.Arg34455His)
|
rs756023873
|
0.00003
|
|
NM_001267550.2(TTN):c.103391A>C (p.Lys34464Thr)
|
rs1559023019
|
0.00003
|
|
NM_001267550.2(TTN):c.103486A>G (p.Thr34496Ala)
|
rs183912990
|
0.00003
|
|
NM_001267550.2(TTN):c.103535C>T (p.Pro34512Leu)
|
rs762629564
|
0.00003
|
|
NM_001267550.2(TTN):c.103679A>G (p.Lys34560Arg)
|
rs544590023
|
0.00003
|
|
NM_001267550.2(TTN):c.103829G>A (p.Arg34610His)
|
rs550047610
|
0.00003
|
|
NM_001267550.2(TTN):c.103847G>C (p.Arg34616Thr)
|
rs573782418
|
0.00003
|
|
NM_001267550.2(TTN):c.103906C>T (p.Arg34636Cys)
|
rs768575577
|
0.00003
|
|
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln)
|
rs397517788
|
0.00003
|
|
NM_001267550.2(TTN):c.104027C>G (p.Thr34676Arg)
|
rs761644963
|
0.00003
|
|
NM_001267550.2(TTN):c.104246G>A (p.Arg34749Gln)
|
rs771716923
|
0.00003
|
|
NM_001267550.2(TTN):c.104359A>G (p.Lys34787Glu)
|
rs769788281
|
0.00003
|
|
NM_001267550.2(TTN):c.104385G>A (p.Lys34795=)
|
rs397517790
|
0.00003
|
|
NM_001267550.2(TTN):c.104734G>A (p.Glu34912Lys)
|
rs375542215
|
0.00003
|
|
NM_001267550.2(TTN):c.104812C>T (p.Leu34938=)
|
rs755726554
|
0.00003
|
|
NM_001267550.2(TTN):c.105084G>A (p.Thr35028=)
|
rs774968722
|
0.00003
|
|
NM_001267550.2(TTN):c.105141G>A (p.Glu35047=)
|
rs752897450
|
0.00003
|
|
NM_001267550.2(TTN):c.105301T>C (p.Ser35101Pro)
|
rs759062212
|
0.00003
|
|
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met)
|
rs747161494
|
0.00003
|
|
NM_001267550.2(TTN):c.105520C>T (p.Arg35174Cys)
|
rs778207634
|
0.00003
|
|
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp)
|
rs397517796
|
0.00003
|
|
NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu)
|
rs560557634
|
0.00003
|
|
NM_001267550.2(TTN):c.105813A>C (p.Pro35271=)
|
rs777268739
|
0.00003
|
|
NM_001267550.2(TTN):c.106020T>C (p.Gly35340=)
|
rs148865574
|
0.00003
|
|
NM_001267550.2(TTN):c.106054T>C (p.Ser35352Pro)
|
rs370094513
|
0.00003
|
|
NM_001267550.2(TTN):c.106094G>A (p.Gly35365Asp)
|
rs778524334
|
0.00003
|
|
NM_001267550.2(TTN):c.106134C>A (p.Ala35378=)
|
rs372562222
|
0.00003
|
|
NM_001267550.2(TTN):c.106439A>G (p.His35480Arg)
|
rs766337455
|
0.00003
|
|
NM_001267550.2(TTN):c.106489T>G (p.Ser35497Ala)
|
rs369870182
|
0.00003
|
|
NM_001267550.2(TTN):c.106563T>C (p.Ser35521=)
|
rs966023150
|
0.00003
|
|
NM_001267550.2(TTN):c.106662G>A (p.Glu35554=)
|
rs753862749
|
0.00003
|
|
NM_001267550.2(TTN):c.10679-18T>C
|
rs765478289
|
0.00003
|
|
NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met)
|
rs727504540
|
0.00003
|
|
NM_001267550.2(TTN):c.107224-6T>C
|
rs368811159
|
0.00003
|
|
NM_001267550.2(TTN):c.107378-20G>A
|
rs372721750
|
0.00003
|
|
NM_001267550.2(TTN):c.11034A>G (p.Gln3678=)
|
rs753378142
|
0.00003
|
|
NM_001267550.2(TTN):c.11358C>T (p.Ser3786=)
|
rs746569739
|
0.00003
|
|
NM_001267550.2(TTN):c.11359G>A (p.Ala3787Thr)
|
rs779416521
|
0.00003
|
|
NM_001267550.2(TTN):c.11391A>G (p.Thr3797=)
|
rs373708340
|
0.00003
|
|
NM_001267550.2(TTN):c.1194G>T (p.Val398=)
|
rs753201701
|
0.00003
|
|
NM_001267550.2(TTN):c.1245+3A>G
|
rs757221300
|
0.00003
|
|
NM_001267550.2(TTN):c.12564C>A (p.Ala4188=)
|
rs547338168
|
0.00003
|
|
NM_001267550.2(TTN):c.12813C>A (p.His4271Gln)
|
rs373302409
|
0.00003
|
|
NM_001267550.2(TTN):c.12873C>G (p.Val4291=)
|
rs747114179
|
0.00003
|
|
NM_001267550.2(TTN):c.13015G>A (p.Val4339Ile)
|
rs756186781
|
0.00003
|
|
NM_001267550.2(TTN):c.13020G>T (p.Leu4340=)
|
rs369937083
|
0.00003
|
|
NM_001267550.2(TTN):c.13048G>A (p.Val4350Met)
|
rs781206839
|
0.00003
|
|
NM_001267550.2(TTN):c.1330A>G (p.Ser444Gly)
|
rs767156649
|
0.00003
|
|
NM_001267550.2(TTN):c.13371C>T (p.Ile4457=)
|
rs570991398
|
0.00003
|
|
NM_001267550.2(TTN):c.13602G>A (p.Glu4534=)
|
rs778884752
|
0.00003
|
|
NM_001267550.2(TTN):c.1398+5G>A
|
rs542965530
|
0.00003
|
|
NM_001267550.2(TTN):c.13980G>A (p.Thr4660=)
|
rs1384061855
|
0.00003
|
|
NM_001267550.2(TTN):c.14093-4G>A
|
rs373530196
|
0.00003
|
|
NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu)
|
rs757119133
|
0.00003
|
|
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn)
|
rs147879266
|
0.00003
|
|
NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=)
|
rs761666344
|
0.00003
|
|
NM_001267550.2(TTN):c.15177C>T (p.Asp5059=)
|
rs74607159
|
0.00003
|
|
NM_001267550.2(TTN):c.15196A>G (p.Ser5066Gly)
|
rs756793304
|
0.00003
|
|
NM_001267550.2(TTN):c.15396G>C (p.Leu5132=)
|
rs754263189
|
0.00003
|
|
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)
|
rs886042995
|
0.00003
|
|
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met)
|
rs72648936
|
0.00003
|
|
NM_001267550.2(TTN):c.16160G>C (p.Arg5387Thr)
|
rs748155563
|
0.00003
|
|
NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly)
|
rs760722200
|
0.00003
|
|
NM_001267550.2(TTN):c.16368C>T (p.Pro5456=)
|
rs745942343
|
0.00003
|
|
NM_001267550.2(TTN):c.16369G>A (p.Gly5457Ser)
|
rs774425875
|
0.00003
|
|
NM_001267550.2(TTN):c.16563A>G (p.Thr5521=)
|
rs886055297
|
0.00003
|
|
NM_001267550.2(TTN):c.16752T>A (p.Ile5584=)
|
rs758374634
|
0.00003
|
|
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=)
|
rs727504441
|
0.00003
|
|
NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln)
|
rs753892271
|
0.00003
|
|
NM_001267550.2(TTN):c.17461+1G>T
|
rs747990127
|
0.00003
|
|
NM_001267550.2(TTN):c.18029-14T>C
|
rs746546928
|
0.00003
|
|
NM_001267550.2(TTN):c.18363G>A (p.Gln6121=)
|
rs375032616
|
0.00003
|
|
NM_001267550.2(TTN):c.18396T>C (p.Thr6132=)
|
rs534008239
|
0.00003
|
|
NM_001267550.2(TTN):c.18510A>G (p.Val6170=)
|
rs761425332
|
0.00003
|
|
NM_001267550.2(TTN):c.18590-14T>G
|
rs781455893
|
0.00003
|
|
NM_001267550.2(TTN):c.18645C>T (p.Asp6215=)
|
rs372400829
|
0.00003
|
|
NM_001267550.2(TTN):c.18657G>A (p.Glu6219=)
|
rs1282711943
|
0.00003
|
|
NM_001267550.2(TTN):c.187G>A (p.Ala63Thr)
|
rs764892312
|
0.00003
|
|
NM_001267550.2(TTN):c.19118A>G (p.Glu6373Gly)
|
rs367868361
|
0.00003
|
|
NM_001267550.2(TTN):c.19715-1G>A
|
rs767658044
|
0.00003
|
|
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=)
|
rs751902051
|
0.00003
|
|
NM_001267550.2(TTN):c.19786A>G (p.Ile6596Val)
|
rs369108292
|
0.00003
|
|
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=)
|
rs397517492
|
0.00003
|
|
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)
|
rs747240394
|
0.00003
|
|
NM_001267550.2(TTN):c.19933A>G (p.Thr6645Ala)
|
rs370671112
|
0.00003
|
|
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn)
|
rs397517493
|
0.00003
|
|
NM_001267550.2(TTN):c.20096T>A (p.Val6699Asp)
|
rs907862282
|
0.00003
|
|
NM_001267550.2(TTN):c.20156T>C (p.Ile6719Thr)
|
rs770377168
|
0.00003
|
|
NM_001267550.2(TTN):c.20276-11G>A
|
rs567693576
|
0.00003
|
|
NM_001267550.2(TTN):c.20367G>T (p.Pro6789=)
|
rs368422028
|
0.00003
|
|
NM_001267550.2(TTN):c.20397G>A (p.Arg6799=)
|
rs376573256
|
0.00003
|
|
NM_001267550.2(TTN):c.20474C>T (p.Thr6825Ile)
|
rs763006525
|
0.00003
|
|
NM_001267550.2(TTN):c.20555-14C>G
|
rs561240119
|
0.00003
|
|
NM_001267550.2(TTN):c.20730A>G (p.Ala6910=)
|
rs561371744
|
0.00003
|
|
NM_001267550.2(TTN):c.2083G>A (p.Val695Ile)
|
rs747479318
|
0.00003
|
|
NM_001267550.2(TTN):c.21013T>C (p.Leu7005=)
|
rs774841915
|
0.00003
|
|
NM_001267550.2(TTN):c.21119G>A (p.Arg7040Gln)
|
rs754476903
|
0.00003
|
|
NM_001267550.2(TTN):c.21132C>T (p.Pro7044=)
|
rs1393914410
|
0.00003
|
|
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)
|
rs374408615
|
0.00003
|
|
NM_001267550.2(TTN):c.21363C>T (p.Val7121=)
|
rs751090506
|
0.00003
|
|
NM_001267550.2(TTN):c.22240+7A>C
|
rs368101794
|
0.00003
|
|
NM_001267550.2(TTN):c.22500A>T (p.Ala7500=)
|
rs757003919
|
0.00003
|
|
NM_001267550.2(TTN):c.22592G>A (p.Ser7531Asn)
|
rs267599060
|
0.00003
|
|
NM_001267550.2(TTN):c.22734C>A (p.Gly7578=)
|
rs747844754
|
0.00003
|
|
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys)
|
rs397517502
|
0.00003
|
|
NM_001267550.2(TTN):c.2310G>T (p.Gln770His)
|
rs541547610
|
0.00003
|
|
NM_001267550.2(TTN):c.23433T>C (p.Ala7811=)
|
rs770591753
|
0.00003
|
|
NM_001267550.2(TTN):c.2370+9A>G
|
rs373443384
|
0.00003
|
|
NM_001267550.2(TTN):c.23844C>A (p.Ile7948=)
|
rs536536380
|
0.00003
|
|
NM_001267550.2(TTN):c.23938+14G>C
|
rs752417465
|
0.00003
|
|
NM_001267550.2(TTN):c.2397G>A (p.Thr799=)
|
rs369313128
|
0.00003
|
|
NM_001267550.2(TTN):c.24482G>A (p.Cys8161Tyr)
|
rs372143487
|
0.00003
|
|
NM_001267550.2(TTN):c.24621C>T (p.Asp8207=)
|
rs751733811
|
0.00003
|
|
NM_001267550.2(TTN):c.24675T>G (p.Ser8225=)
|
rs1304608171
|
0.00003
|
|
NM_001267550.2(TTN):c.24833G>C (p.Gly8278Ala)
|
rs778611558
|
0.00003
|
|
NM_001267550.2(TTN):c.24951C>T (p.Asn8317=)
|
rs370154022
|
0.00003
|
|
NM_001267550.2(TTN):c.25002T>C (p.Tyr8334=)
|
rs371334680
|
0.00003
|
|
NM_001267550.2(TTN):c.25180T>G (p.Tyr8394Asp)
|
rs898098652
|
0.00003
|
|
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser)
|
rs370962244
|
0.00003
|
|
NM_001267550.2(TTN):c.2670C>T (p.Tyr890=)
|
rs879035696
|
0.00003
|
|
NM_001267550.2(TTN):c.26814A>G (p.Leu8938=)
|
rs764770520
|
0.00003
|
|
NM_001267550.2(TTN):c.2685C>T (p.Gly895=)
|
rs139501351
|
0.00003
|
|
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)
|
rs200325324
|
0.00003
|
|
NM_001267550.2(TTN):c.26C>T (p.Thr9Met)
|
rs146123323
|
0.00003
|
|
NM_001267550.2(TTN):c.27174A>G (p.Glu9058=)
|
rs746874191
|
0.00003
|
|
NM_001267550.2(TTN):c.27186T>G (p.Gly9062=)
|
rs745874179
|
0.00003
|
|
NM_001267550.2(TTN):c.27246T>C (p.Asp9082=)
|
rs183503760
|
0.00003
|
|
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr)
|
rs375907742
|
0.00003
|
|
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter)
|
rs769097909
|
0.00003
|
|
NM_001267550.2(TTN):c.2784A>G (p.Glu928=)
|
rs727504211
|
0.00003
|
|
NM_001267550.2(TTN):c.27928G>A (p.Val9310Ile)
|
rs200207722
|
0.00003
|
|
NM_001267550.2(TTN):c.27988A>G (p.Ile9330Val)
|
rs768696299
|
0.00003
|
|
NM_001267550.2(TTN):c.27G>A (p.Thr9=)
|
rs760305568
|
0.00003
|
|
NM_001267550.2(TTN):c.28137A>G (p.Ile9379Met)
|
rs1060500516
|
0.00003
|
|
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met)
|
rs375209383
|
0.00003
|
|
NM_001267550.2(TTN):c.28677C>T (p.Asn9559=)
|
rs775065173
|
0.00003
|
|
NM_001267550.2(TTN):c.28818C>T (p.Tyr9606=)
|
rs374117152
|
0.00003
|
|
NM_001267550.2(TTN):c.28836T>C (p.His9612=)
|
rs566777873
|
0.00003
|
|
NM_001267550.2(TTN):c.29145G>A (p.Ala9715=)
|
rs772838978
|
0.00003
|
|
NM_001267550.2(TTN):c.29658T>G (p.Leu9886=)
|
rs372392376
|
0.00003
|
|
NM_001267550.2(TTN):c.29950C>T (p.Leu9984=)
|
rs765561226
|
0.00003
|
|
NM_001267550.2(TTN):c.29970A>G (p.Ala9990=)
|
rs773217500
|
0.00003
|
|
NM_001267550.2(TTN):c.30129T>C (p.His10043=)
|
rs764724866
|
0.00003
|
|
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=)
|
rs367901929
|
0.00003
|
|
NM_001267550.2(TTN):c.30702G>A (p.Lys10234=)
|
rs573246972
|
0.00003
|
|
NM_001267550.2(TTN):c.30768G>A (p.Lys10256=)
|
rs762404146
|
0.00003
|
|
NM_001267550.2(TTN):c.30951C>T (p.Phe10317=)
|
rs952564944
|
0.00003
|
|
NM_001267550.2(TTN):c.31035T>C (p.Tyr10345=)
|
rs370198609
|
0.00003
|
|
NM_001267550.2(TTN):c.31134C>T (p.Asp10378=)
|
rs892684142
|
0.00003
|
|
NM_001267550.2(TTN):c.31349-4A>T
|
rs1029227575
|
0.00003
|
|
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile)
|
rs763955552
|
0.00003
|
|
NM_001267550.2(TTN):c.3165-17G>A
|
rs754654936
|
0.00003
|
|
NM_001267550.2(TTN):c.31672C>A (p.Pro10558Thr)
|
rs769915175
|
0.00003
|
|
NM_001267550.2(TTN):c.31678+20A>G
|
rs1057508878
|
0.00003
|
|
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln)
|
rs376287951
|
0.00003
|
|
NM_001267550.2(TTN):c.32020C>G (p.Leu10674Val)
|
rs766003250
|
0.00003
|
|
NM_001267550.2(TTN):c.32095+20T>C
|
rs768705255
|
0.00003
|
|
NM_001267550.2(TTN):c.3214G>A (p.Glu1072Lys)
|
rs1263370770
|
0.00003
|
|
NM_001267550.2(TTN):c.32202T>C (p.Ser10734=)
|
rs879101587
|
0.00003
|
|
NM_001267550.2(TTN):c.3235C>A (p.Pro1079Thr)
|
rs774643116
|
0.00003
|
|
NM_001267550.2(TTN):c.32463G>T (p.Pro10821=)
|
rs987167890
|
0.00003
|
|
NM_001267550.2(TTN):c.32555-12G>T
|
rs397517540
|
0.00003
|
|
NM_001267550.2(TTN):c.32722+3A>G
|
rs1182220171
|
0.00003
|
|
NM_001267550.2(TTN):c.32888-3C>A
|
rs397517544
|
0.00003
|
|
NM_001267550.2(TTN):c.32C>T (p.Pro11Leu)
|
rs768624416
|
0.00003
|
|
NM_001267550.2(TTN):c.33172+14A>G
|
rs752797605
|
0.00003
|
|
NM_001267550.2(TTN):c.33330C>T (p.Pro11110=)
|
rs751014194
|
0.00003
|
|
NM_001267550.2(TTN):c.33660A>C (p.Ala11220=)
|
rs764664976
|
0.00003
|
|
NM_001267550.2(TTN):c.33664+6C>G
|
rs1060500524
|
0.00003
|
|
NM_001267550.2(TTN):c.33966G>A (p.Pro11322=)
|
rs373083865
|
0.00003
|
|
NM_001267550.2(TTN):c.33994+19G>C
|
rs573337231
|
0.00003
|
|
NM_001267550.2(TTN):c.34134A>G (p.Leu11378=)
|
rs575740245
|
0.00003
|
|
NM_001267550.2(TTN):c.34341C>T (p.Pro11447=)
|
rs369715093
|
0.00003
|
|
NM_001267550.2(TTN):c.35133A>G (p.Glu11711=)
|
rs377420286
|
0.00003
|
|
NM_001267550.2(TTN):c.35309-13A>G
|
rs1369481538
|
0.00003
|
|
NM_001267550.2(TTN):c.35384A>C (p.Lys11795Thr)
|
rs890825956
|
0.00003
|
|
NM_001267550.2(TTN):c.35391C>A (p.Pro11797=)
|
rs748919007
|
0.00003
|
|
NM_001267550.2(TTN):c.35717C>G (p.Pro11906Arg)
|
rs781317174
|
0.00003
|
|
NM_001267550.2(TTN):c.36207G>A (p.Pro12069=)
|
rs370960330
|
0.00003
|
|
NM_001267550.2(TTN):c.36231G>A (p.Pro12077=)
|
rs367771375
|
0.00003
|
|
NM_001267550.2(TTN):c.36281-11T>C
|
rs763712438
|
0.00003
|
|
NM_001267550.2(TTN):c.36281-9T>C
|
rs760175676
|
0.00003
|
|
NM_001267550.2(TTN):c.36427C>T (p.Pro12143Ser)
|
rs779794774
|
0.00003
|
|
NM_001267550.2(TTN):c.36513T>A (p.Pro12171=)
|
rs764487519
|
0.00003
|
|
NM_001267550.2(TTN):c.36616+18G>T
|
rs761330661
|
0.00003
|
|
NM_001267550.2(TTN):c.36617-5T>A
|
rs771059357
|
0.00003
|
|
NM_001267550.2(TTN):c.36680C>T (p.Pro12227Leu)
|
rs767455362
|
0.00003
|
|
NM_001267550.2(TTN):c.3670T>C (p.Leu1224=)
|
rs764873258
|
0.00003
|
|
NM_001267550.2(TTN):c.3720A>G (p.Val1240=)
|
rs1467298954
|
0.00003
|
|
NM_001267550.2(TTN):c.37248G>A (p.Ser12416=)
|
rs201654513
|
0.00003
|
|
NM_001267550.2(TTN):c.37758T>A (p.Ala12586=)
|
rs1308714314
|
0.00003
|
|
NM_001267550.2(TTN):c.37980C>T (p.Val12660=)
|
rs1233379856
|
0.00003
|
|
NM_001267550.2(TTN):c.38136A>G (p.Pro12712=)
|
rs1392090574
|
0.00003
|
|
NM_001267550.2(TTN):c.38181C>T (p.Pro12727=)
|
rs1378163913
|
0.00003
|
|
NM_001267550.2(TTN):c.38372G>C (p.Arg12791Pro)
|
rs1237577240
|
0.00003
|
|
NM_001267550.2(TTN):c.38505C>T (p.Pro12835=)
|
rs745664297
|
0.00003
|
|
NM_001267550.2(TTN):c.38627-15C>T
|
rs1186212898
|
0.00003
|
|
NM_001267550.2(TTN):c.38681A>G (p.Lys12894Arg)
|
rs574694398
|
0.00003
|
|
NM_001267550.2(TTN):c.38856T>G (p.Pro12952=)
|
rs753817117
|
0.00003
|
|
NM_001267550.2(TTN):c.38931T>G (p.Pro12977=)
|
rs369631190
|
0.00003
|
|
NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu)
|
rs763845436
|
0.00003
|
|
NM_001267550.2(TTN):c.39066T>A (p.Val13022=)
|
rs759383677
|
0.00003
|
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
|
NM_001267550.2(TTN):c.39216A>C (p.Pro13072=)
|
rs749227850
|
0.00003
|
|
NM_001267550.2(TTN):c.39463+18T>G
|
rs550378650
|
0.00003
|
|
NM_001267550.2(TTN):c.39493G>A (p.Glu13165Lys)
|
rs747566528
|
0.00003
|
|
NM_001267550.2(TTN):c.39895+16del
|
rs761838184
|
0.00003
|
|
NM_001267550.2(TTN):c.39895+8T>C
|
rs990600164
|
0.00003
|
|
NM_001267550.2(TTN):c.39928A>C (p.Lys13310Gln)
|
rs1317959875
|
0.00003
|
|
NM_001267550.2(TTN):c.40065A>G (p.Lys13355=)
|
rs1396223140
|
0.00003
|
|
NM_001267550.2(TTN):c.40092G>A (p.Lys13364=)
|
rs1424521442
|
0.00003
|
|
NM_001267550.2(TTN):c.40511T>G (p.Leu13504Arg)
|
rs776115575
|
0.00003
|
|
NM_001267550.2(TTN):c.40723+1G>T
|
rs371770198
|
0.00003
|
|
NM_001267550.2(TTN):c.40773A>G (p.Pro13591=)
|
rs368521608
|
0.00003
|
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
|
NM_001267550.2(TTN):c.41018C>T (p.Pro13673Leu)
|
rs765821223
|
0.00003
|
|
NM_001267550.2(TTN):c.41310G>A (p.Thr13770=)
|
rs556498170
|
0.00003
|
|
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=)
|
rs749356221
|
0.00003
|
|
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter)
|
rs747469275
|
0.00003
|
|
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=)
|
rs756282138
|
0.00003
|
|
NM_001267550.2(TTN):c.41818G>C (p.Glu13940Gln)
|
rs1172846357
|
0.00003
|
|
NM_001267550.2(TTN):c.42336T>C (p.Asn14112=)
|
rs778310352
|
0.00003
|
|
NM_001267550.2(TTN):c.43460G>A (p.Ser14487Asn)
|
rs770233190
|
0.00003
|
|
NM_001267550.2(TTN):c.43681G>T (p.Asp14561Tyr)
|
rs745655055
|
0.00003
|
|
NM_001267550.2(TTN):c.4373T>G (p.Val1458Gly)
|
rs1164246536
|
0.00003
|
|
NM_001267550.2(TTN):c.44117A>G (p.Asn14706Ser)
|
rs878854309
|
0.00003
|
|
NM_001267550.2(TTN):c.44281+8T>C
|
rs369121980
|
0.00003
|
|
NM_001267550.2(TTN):c.44349C>T (p.Phe14783=)
|
rs367744803
|
0.00003
|
|
NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys)
|
rs397517577
|
0.00003
|
|
NM_001267550.2(TTN):c.44367C>T (p.Tyr14789=)
|
rs750270873
|
0.00003
|
|
NM_001267550.2(TTN):c.44525C>T (p.Thr14842Ile)
|
rs370782364
|
0.00003
|
|
NM_001267550.2(TTN):c.44592C>T (p.Val14864=)
|
rs397517578
|
0.00003
|
|
NM_001267550.2(TTN):c.44813T>C (p.Val14938Ala)
|
rs571522834
|
0.00003
|
|
NM_001267550.2(TTN):c.44816-4A>G
|
rs771255067
|
0.00003
|
|
NM_001267550.2(TTN):c.44916T>A (p.Val14972=)
|
rs373390402
|
0.00003
|
|
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His)
|
rs762128685
|
0.00003
|
|
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=)
|
rs1455525236
|
0.00003
|
|
NM_001267550.2(TTN):c.45779T>C (p.Leu15260Pro)
|
rs552053581
|
0.00003
|
|
NM_001267550.2(TTN):c.46221C>T (p.Asp15407=)
|
rs370808856
|
0.00003
|
|
NM_001267550.2(TTN):c.46697-19_46697-18del
|
rs530484268
|
0.00003
|
|
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met)
|
rs368057764
|
0.00003
|
|
NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr)
|
rs764388462
|
0.00003
|
|
NM_001267550.2(TTN):c.47687T>C (p.Ile15896Thr)
|
rs1411457226
|
0.00003
|
|
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)
|
rs727503622
|
0.00003
|
|
NM_001267550.2(TTN):c.48021C>T (p.Asp16007=)
|
rs368404578
|
0.00003
|
|
NM_001267550.2(TTN):c.48023G>A (p.Arg16008Gln)
|
rs771224957
|
0.00003
|
|
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His)
|
rs72677238
|
0.00003
|
|
NM_001267550.2(TTN):c.48258G>A (p.Pro16086=)
|
rs373909192
|
0.00003
|
|
NM_001267550.2(TTN):c.48359T>C (p.Val16120Ala)
|
rs745999025
|
0.00003
|
|
NM_001267550.2(TTN):c.48461-18C>G
|
rs759697221
|
0.00003
|
|
NM_001267550.2(TTN):c.48545A>C (p.Asp16182Ala)
|
rs762913484
|
0.00003
|
|
NM_001267550.2(TTN):c.485T>A (p.Leu162Gln)
|
rs145438758
|
0.00003
|
|
NM_001267550.2(TTN):c.48915T>A (p.Ile16305=)
|
rs752761527
|
0.00003
|
|
NM_001267550.2(TTN):c.48987T>C (p.Tyr16329=)
|
rs773944885
|
0.00003
|
|
NM_001267550.2(TTN):c.49129G>A (p.Asp16377Asn)
|
rs757542062
|
0.00003
|
|
NM_001267550.2(TTN):c.49377T>A (p.Pro16459=)
|
rs564712731
|
0.00003
|
|
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=)
|
rs749308557
|
0.00003
|
|
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=)
|
rs727505248
|
0.00003
|
|
NM_001267550.2(TTN):c.49648+2del
|
rs727504851
|
0.00003
|
|
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile)
|
rs377141765
|
0.00003
|
|
NM_001267550.2(TTN):c.50355-15T>C
|
rs757425897
|
0.00003
|
|
NM_001267550.2(TTN):c.50597G>A (p.Arg16866Lys)
|
rs774137928
|
0.00003
|
|
NM_001267550.2(TTN):c.50669A>C (p.Glu16890Ala)
|
rs752204728
|
0.00003
|
|
NM_001267550.2(TTN):c.50858-10T>C
|
rs758214540
|
0.00003
|
|
NM_001267550.2(TTN):c.51079A>T (p.Ile17027Phe)
|
rs770809063
|
0.00003
|
|
NM_001267550.2(TTN):c.51739+20G>A
|
rs571361599
|
0.00003
|
|
NM_001267550.2(TTN):c.51873G>A (p.Glu17291=)
|
rs766833190
|
0.00003
|
|
NM_001267550.2(TTN):c.52052T>C (p.Val17351Ala)
|
rs565423253
|
0.00003
|
|
NM_001267550.2(TTN):c.52242C>T (p.Pro17414=)
|
rs765216874
|
0.00003
|
|
NM_001267550.2(TTN):c.52305G>A (p.Leu17435=)
|
rs759498383
|
0.00003
|
|
NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser)
|
rs762214300
|
0.00003
|
|
NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr)
|
rs756689649
|
0.00003
|
|
NM_001267550.2(TTN):c.52929G>A (p.Arg17643=)
|
rs750808639
|
0.00003
|
|
NM_001267550.2(TTN):c.5295C>T (p.Gly1765=)
|
rs145999395
|
0.00003
|
|
NM_001267550.2(TTN):c.52962G>A (p.Pro17654=)
|
rs773148195
|
0.00003
|
|
NM_001267550.2(TTN):c.53002+4C>G
|
rs947716496
|
0.00003
|
|
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=)
|
rs373140387
|
0.00003
|
|
NM_001267550.2(TTN):c.53439A>G (p.Gln17813=)
|
rs755191182
|
0.00003
|
|
NM_001267550.2(TTN):c.53791C>G (p.Gln17931Glu)
|
rs759208053
|
0.00003
|
|
NM_001267550.2(TTN):c.53881+4C>T
|
rs187632918
|
0.00003
|
|
NM_001267550.2(TTN):c.53943A>T (p.Gly17981=)
|
rs367580862
|
0.00003
|
|
NM_001267550.2(TTN):c.54054G>A (p.Lys18018=)
|
rs761146363
|
0.00003
|
|
NM_001267550.2(TTN):c.54222T>C (p.Val18074=)
|
rs568765317
|
0.00003
|
|
NM_001267550.2(TTN):c.54819G>A (p.Pro18273=)
|
rs373624715
|
0.00003
|
|
NM_001267550.2(TTN):c.55206C>A (p.Ile18402=)
|
rs368272978
|
0.00003
|
|
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn)
|
rs367799017
|
0.00003
|
|
NM_001267550.2(TTN):c.5581C>T (p.Arg1861Cys)
|
rs532733393
|
0.00003
|
|
NM_001267550.2(TTN):c.55988A>G (p.Asn18663Ser)
|
rs368350844
|
0.00003
|
|
NM_001267550.2(TTN):c.56096G>A (p.Gly18699Glu)
|
rs1060500533
|
0.00003
|
|
NM_001267550.2(TTN):c.56171A>G (p.Lys18724Arg)
|
rs201091423
|
0.00003
|
|
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)
|
rs553313488
|
0.00003
|
|
NM_001267550.2(TTN):c.56454A>C (p.Thr18818=)
|
rs374058011
|
0.00003
|
|
NM_001267550.2(TTN):c.56573G>A (p.Arg18858Gln)
|
rs755848019
|
0.00003
|
|
NM_001267550.2(TTN):c.56822C>T (p.Ala18941Val)
|
rs754264431
|
0.00003
|
|
NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr)
|
rs373351577
|
0.00003
|
|
NM_001267550.2(TTN):c.57477C>T (p.Gly19159=)
|
rs777480811
|
0.00003
|
|
NM_001267550.2(TTN):c.57508G>A (p.Gly19170Arg)
|
rs750947988
|
0.00003
|
|
NM_001267550.2(TTN):c.5761A>G (p.Ile1921Val)
|
rs879100565
|
0.00003
|
|
NM_001267550.2(TTN):c.57777G>A (p.Ala19259=)
|
rs376930907
|
0.00003
|
|
NM_001267550.2(TTN):c.57848-4G>A
|
rs369462016
|
0.00003
|
|
NM_001267550.2(TTN):c.57848-9T>C
|
rs1404639698
|
0.00003
|
|
NM_001267550.2(TTN):c.583+4C>T
|
rs764670848
|
0.00003
|
|
NM_001267550.2(TTN):c.58432+17G>A
|
rs759128616
|
0.00003
|
|
NM_001267550.2(TTN):c.58609A>T (p.Thr19537Ser)
|
rs750320421
|
0.00003
|
|
NM_001267550.2(TTN):c.5912C>G (p.Thr1971Ser)
|
rs778898929
|
0.00003
|
|
NM_001267550.2(TTN):c.59243G>A (p.Arg19748Gln)
|
rs142791877
|
0.00003
|
|
NM_001267550.2(TTN):c.59725A>G (p.Ile19909Val)
|
rs1060500484
|
0.00003
|
|
NM_001267550.2(TTN):c.59859G>A (p.Ala19953=)
|
rs759120495
|
0.00003
|
|
NM_001267550.2(TTN):c.59927-19T>A
|
rs772730956
|
0.00003
|
|
NM_001267550.2(TTN):c.59946G>A (p.Lys19982=)
|
rs772284158
|
0.00003
|
|
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His)
|
rs756091180
|
0.00003
|
|
NM_001267550.2(TTN):c.60062C>T (p.Thr20021Ile)
|
rs760706351
|
0.00003
|
|
NM_001267550.2(TTN):c.60298G>A (p.Ala20100Thr)
|
rs748929812
|
0.00003
|
|
NM_001267550.2(TTN):c.60407T>A (p.Leu20136His)
|
rs1060500492
|
0.00003
|
|
NM_001267550.2(TTN):c.60954G>A (p.Val20318=)
|
rs748022439
|
0.00003
|
|
NM_001267550.2(TTN):c.60963C>T (p.Asn20321=)
|
rs776977331
|
0.00003
|
|
NM_001267550.2(TTN):c.60975C>T (p.Ile20325=)
|
rs727505195
|
0.00003
|
|
NM_001267550.2(TTN):c.6163G>A (p.Glu2055Lys)
|
rs763733251
|
0.00003
|
|
NM_001267550.2(TTN):c.617C>A (p.Thr206Lys)
|
rs768427369
|
0.00003
|
|
NM_001267550.2(TTN):c.61915T>C (p.Tyr20639His)
|
rs727503587
|
0.00003
|
|
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys)
|
rs770684884
|
0.00003
|
|
NM_001267550.2(TTN):c.62274G>A (p.Glu20758=)
|
rs1313786414
|
0.00003
|
|
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His)
|
rs758019778
|
0.00003
|
|
NM_001267550.2(TTN):c.62703A>G (p.Leu20901=)
|
rs749180542
|
0.00003
|
|
NM_001267550.2(TTN):c.62779C>T (p.Arg20927Cys)
|
rs547604540
|
0.00003
|
|
NM_001267550.2(TTN):c.62901T>C (p.Pro20967=)
|
rs1245531460
|
0.00003
|
|
NM_001267550.2(TTN):c.63110G>A (p.Arg21037His)
|
rs775651612
|
0.00003
|
|
NM_001267550.2(TTN):c.63330G>A (p.Ala21110=)
|
rs727504885
|
0.00003
|
|
NM_001267550.2(TTN):c.63483A>G (p.Glu21161=)
|
rs747885095
|
0.00003
|
|
NM_001267550.2(TTN):c.63665T>C (p.Val21222Ala)
|
rs183595734
|
0.00003
|
|
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)
|
rs794729474
|
0.00003
|
|
NM_001267550.2(TTN):c.64047C>T (p.Gly21349=)
|
rs775357802
|
0.00003
|
|
NM_001267550.2(TTN):c.6490G>A (p.Ala2164Thr)
|
rs56285559
|
0.00003
|
|
NM_001267550.2(TTN):c.64916G>A (p.Arg21639Gln)
|
rs373282633
|
0.00003
|
|
NM_001267550.2(TTN):c.6504C>G (p.Val2168=)
|
rs760959263
|
0.00003
|
|
NM_001267550.2(TTN):c.65144G>T (p.Arg21715Leu)
|
rs368450785
|
0.00003
|
|
NM_001267550.2(TTN):c.65276-16C>T
|
rs370634364
|
0.00003
|
|
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg)
|
rs745626132
|
0.00003
|
|
NM_001267550.2(TTN):c.65559T>C (p.Thr21853=)
|
rs781466821
|
0.00003
|
|
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)
|
rs587780494
|
0.00003
|
|
NM_001267550.2(TTN):c.65864-13C>A
|
rs368507077
|
0.00003
|
|
NM_001267550.2(TTN):c.6587G>A (p.Cys2196Tyr)
|
rs878854326
|
0.00003
|
|
NM_001267550.2(TTN):c.66057A>G (p.Lys22019=)
|
rs372989710
|
0.00003
|
|
NM_001267550.2(TTN):c.66099A>C (p.Glu22033Asp)
|
rs768277403
|
0.00003
|
|
NM_001267550.2(TTN):c.66622T>C (p.Leu22208=)
|
rs745856872
|
0.00003
|
|
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys)
|
rs764330098
|
0.00003
|
|
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu)
|
rs372979075
|
0.00003
|
|
NM_001267550.2(TTN):c.66804G>A (p.Arg22268=)
|
rs370501197
|
0.00003
|
|
NM_001267550.2(TTN):c.66863G>A (p.Arg22288His)
|
rs537871205
|
0.00003
|
|
NM_001267550.2(TTN):c.67537T>C (p.Leu22513=)
|
rs727504507
|
0.00003
|
|
NM_001267550.2(TTN):c.67637-6T>C
|
rs759070877
|
0.00003
|
|
NM_001267550.2(TTN):c.68154C>T (p.Val22718=)
|
rs755685437
|
0.00003
|
|
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)
|
rs145649088
|
0.00003
|
|
NM_001267550.2(TTN):c.68382C>T (p.Asn22794=)
|
rs528503786
|
0.00003
|
|
NM_001267550.2(TTN):c.68449C>A (p.Arg22817=)
|
rs371678190
|
0.00003
|
|
NM_001267550.2(TTN):c.68607T>C (p.Gly22869=)
|
rs772421669
|
0.00003
|
|
NM_001267550.2(TTN):c.69015T>C (p.Leu23005=)
|
rs766315045
|
0.00003
|
|
NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val)
|
rs771710562
|
0.00003
|
|
NM_001267550.2(TTN):c.69210A>G (p.Ser23070=)
|
rs754292352
|
0.00003
|
|
NM_001267550.2(TTN):c.69517G>A (p.Gly23173Arg)
|
rs773592810
|
0.00003
|
|
NM_001267550.2(TTN):c.6972G>A (p.Thr2324=)
|
rs772147880
|
0.00003
|
|
NM_001267550.2(TTN):c.69731C>T (p.Pro23244Leu)
|
rs879056292
|
0.00003
|
|
NM_001267550.2(TTN):c.69768T>C (p.Ser23256=)
|
rs182679164
|
0.00003
|
|
NM_001267550.2(TTN):c.70044C>T (p.Ala23348=)
|
rs771534964
|
0.00003
|
|
NM_001267550.2(TTN):c.70194T>C (p.Thr23398=)
|
rs764734126
|
0.00003
|
|
NM_001267550.2(TTN):c.7026G>A (p.Gly2342=)
|
rs764861642
|
0.00003
|
|
NM_001267550.2(TTN):c.70578C>T (p.Pro23526=)
|
rs956873465
|
0.00003
|
|
NM_001267550.2(TTN):c.71719G>A (p.Ala23907Thr)
|
rs1309139547
|
0.00003
|
|
NM_001267550.2(TTN):c.71793A>G (p.Pro23931=)
|
rs780920316
|
0.00003
|
|
NM_001267550.2(TTN):c.71879T>C (p.Ile23960Thr)
|
rs568223521
|
0.00003
|
|
NM_001267550.2(TTN):c.71922C>T (p.Ala23974=)
|
rs879179764
|
0.00003
|
|
NM_001267550.2(TTN):c.72232A>G (p.Ile24078Val)
|
rs876658080
|
0.00003
|
|
NM_001267550.2(TTN):c.72312G>A (p.Ala24104=)
|
rs763710399
|
0.00003
|
|
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe)
|
rs372309164
|
0.00003
|
|
NM_001267550.2(TTN):c.72819C>T (p.Asn24273=)
|
rs575014550
|
0.00003
|
|
NM_001267550.2(TTN):c.72C>G (p.Thr24=)
|
rs876657615
|
0.00003
|
|
NM_001267550.2(TTN):c.73158C>A (p.Ile24386=)
|
rs879249050
|
0.00003
|
|
NM_001267550.2(TTN):c.7338C>T (p.Asp2446=)
|
rs375160102
|
0.00003
|
|
NM_001267550.2(TTN):c.73449G>T (p.Leu24483=)
|
rs1359097374
|
0.00003
|
|
NM_001267550.2(TTN):c.73568C>A (p.Pro24523Gln)
|
rs753557799
|
0.00003
|
|
NM_001267550.2(TTN):c.73975G>A (p.Gly24659Ser)
|
rs776423108
|
0.00003
|
|
NM_001267550.2(TTN):c.74112T>C (p.Ser24704=)
|
rs397517697
|
0.00003
|
|
NM_001267550.2(TTN):c.74185G>A (p.Ala24729Thr)
|
rs372007344
|
0.00003
|
|
NM_001267550.2(TTN):c.74784A>G (p.Gln24928=)
|
rs571185863
|
0.00003
|
|
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg)
|
rs747593205
|
0.00003
|
|
NM_001267550.2(TTN):c.74832T>C (p.His24944=)
|
rs1302451459
|
0.00003
|
|
NM_001267550.2(TTN):c.74961C>T (p.Asn24987=)
|
rs754043680
|
0.00003
|
|
NM_001267550.2(TTN):c.7533C>T (p.Asp2511=)
|
rs878878455
|
0.00003
|
|
NM_001267550.2(TTN):c.75526C>T (p.Arg25176Cys)
|
rs368339903
|
0.00003
|
|
NM_001267550.2(TTN):c.76069C>T (p.Arg25357Cys)
|
rs145437410
|
0.00003
|
|
NM_001267550.2(TTN):c.76674T>C (p.Asp25558=)
|
rs375553630
|
0.00003
|
|
NM_001267550.2(TTN):c.76713C>T (p.Val25571=)
|
rs372229365
|
0.00003
|
|
NM_001267550.2(TTN):c.77035A>C (p.Asn25679His)
|
rs770512378
|
0.00003
|
|
NM_001267550.2(TTN):c.77040G>A (p.Glu25680=)
|
rs988760489
|
0.00003
|
|
NM_001267550.2(TTN):c.77540C>T (p.Thr25847Ile)
|
rs917984063
|
0.00003
|
|
NM_001267550.2(TTN):c.77541C>T (p.Thr25847=)
|
rs556181023
|
0.00003
|
|
NM_001267550.2(TTN):c.77601A>G (p.Gln25867=)
|
rs777276284
|
0.00003
|
|
NM_001267550.2(TTN):c.77652A>T (p.Glu25884Asp)
|
rs748940985
|
0.00003
|
|
NM_001267550.2(TTN):c.78117G>A (p.Lys26039=)
|
rs772900049
|
0.00003
|
|
NM_001267550.2(TTN):c.78315C>T (p.Ile26105=)
|
rs776432135
|
0.00003
|
|
NM_001267550.2(TTN):c.78323A>G (p.Gln26108Arg)
|
rs370963021
|
0.00003
|
|
NM_001267550.2(TTN):c.78413C>A (p.Ala26138Asp)
|
rs373587432
|
0.00003
|
|
NM_001267550.2(TTN):c.78589C>A (p.Pro26197Thr)
|
rs747052899
|
0.00003
|
|
NM_001267550.2(TTN):c.78780T>C (p.Asp26260=)
|
rs752578224
|
0.00003
|
|
NM_001267550.2(TTN):c.78993A>G (p.Arg26331=)
|
rs745659756
|
0.00003
|
|
NM_001267550.2(TTN):c.79107T>G (p.Val26369=)
|
rs757441770
|
0.00003
|
|
NM_001267550.2(TTN):c.79117T>C (p.Leu26373=)
|
rs749452514
|
0.00003
|
|
NM_001267550.2(TTN):c.79212C>T (p.Thr26404=)
|
rs778020953
|
0.00003
|
|
NM_001267550.2(TTN):c.79701C>T (p.Asn26567=)
|
rs376808846
|
0.00003
|
|
NM_001267550.2(TTN):c.8018A>G (p.Lys2673Arg)
|
rs1060500389
|
0.00003
|
|
NM_001267550.2(TTN):c.80592A>G (p.Pro26864=)
|
rs769223218
|
0.00003
|
|
NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val)
|
rs749194310
|
0.00003
|
|
NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val)
|
rs371498697
|
0.00003
|
|
NM_001267550.2(TTN):c.82424C>A (p.Thr27475Lys)
|
rs377169807
|
0.00003
|
|
NM_001267550.2(TTN):c.82614T>C (p.His27538=)
|
rs771474614
|
0.00003
|
|
NM_001267550.2(TTN):c.82842G>A (p.Ala27614=)
|
rs370505439
|
0.00003
|
|
NM_001267550.2(TTN):c.83410G>A (p.Glu27804Lys)
|
rs759095633
|
0.00003
|
|
NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu)
|
rs761633407
|
0.00003
|
|
NM_001267550.2(TTN):c.83778A>G (p.Leu27926=)
|
rs757588009
|
0.00003
|
|
NM_001267550.2(TTN):c.84353G>T (p.Arg28118Leu)
|
rs72648220
|
0.00003
|
|
NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp)
|
rs749633038
|
0.00003
|
|
NM_001267550.2(TTN):c.85095C>T (p.Asp28365=)
|
rs371602289
|
0.00003
|
|
NM_001267550.2(TTN):c.85301A>C (p.Asn28434Thr)
|
rs758519100
|
0.00003
|
|
NM_001267550.2(TTN):c.85389C>T (p.Leu28463=)
|
rs144731702
|
0.00003
|
|
NM_001267550.2(TTN):c.85428A>G (p.Gln28476=)
|
rs777939514
|
0.00003
|
|
NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn)
|
rs56330345
|
0.00003
|
|
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr)
|
rs374022393
|
0.00003
|
|
NM_001267550.2(TTN):c.8604C>T (p.Val2868=)
|
rs753733308
|
0.00003
|
|
NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu)
|
rs754207859
|
0.00003
|
|
NM_001267550.2(TTN):c.86560G>A (p.Val28854Met)
|
rs769060885
|
0.00003
|
|
NM_001267550.2(TTN):c.86654G>A (p.Arg28885His)
|
rs371539720
|
0.00003
|
|
NM_001267550.2(TTN):c.86682T>C (p.Ser28894=)
|
rs771483938
|
0.00003
|
|
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg)
|
rs769162510
|
0.00003
|
|
NM_001267550.2(TTN):c.87632G>A (p.Arg29211His)
|
rs370948914
|
0.00003
|
|
NM_001267550.2(TTN):c.88398C>G (p.Gly29466=)
|
rs776559329
|
0.00003
|
|
NM_001267550.2(TTN):c.88894+15C>T
|
rs761704497
|
0.00003
|
|
NM_001267550.2(TTN):c.89003A>T (p.Tyr29668Phe)
|
rs760499831
|
0.00003
|
|
NM_001267550.2(TTN):c.8902+1G>A
|
rs770392096
|
0.00003
|
|
NM_001267550.2(TTN):c.89170G>A (p.Glu29724Lys)
|
rs370918981
|
0.00003
|
|
NM_001267550.2(TTN):c.89197+1G>C
|
rs1131691873
|
0.00003
|
|
NM_001267550.2(TTN):c.89295T>C (p.Ala29765=)
|
rs375374658
|
0.00003
|
|
NM_001267550.2(TTN):c.89313C>T (p.Val29771=)
|
rs746897918
|
0.00003
|
|
NM_001267550.2(TTN):c.89727A>G (p.Lys29909=)
|
rs1489769852
|
0.00003
|
|
NM_001267550.2(TTN):c.89796C>T (p.Asp29932=)
|
rs376478710
|
0.00003
|
|
NM_001267550.2(TTN):c.90180C>T (p.Ser30060=)
|
rs1171957663
|
0.00003
|
|
NM_001267550.2(TTN):c.90198T>G (p.Val30066=)
|
rs761842174
|
0.00003
|
|
NM_001267550.2(TTN):c.9067C>T (p.His3023Tyr)
|
rs763992518
|
0.00003
|
|
NM_001267550.2(TTN):c.90747T>C (p.Pro30249=)
|
rs765024828
|
0.00003
|
|
NM_001267550.2(TTN):c.90913T>C (p.Tyr30305His)
|
rs544353741
|
0.00003
|
|
NM_001267550.2(TTN):c.91342C>T (p.Arg30448Cys)
|
rs756030714
|
0.00003
|
|
NM_001267550.2(TTN):c.91361T>C (p.Ile30454Thr)
|
rs878985220
|
0.00003
|
|
NM_001267550.2(TTN):c.91520C>T (p.Pro30507Leu)
|
rs774107448
|
0.00003
|
|
NM_001267550.2(TTN):c.91564+20T>C
|
rs770556280
|
0.00003
|
|
NM_001267550.2(TTN):c.91620C>T (p.Ser30540=)
|
rs750041507
|
0.00003
|
|
NM_001267550.2(TTN):c.9163+5G>C
|
rs775448783
|
0.00003
|
|
NM_001267550.2(TTN):c.9164-2A>T
|
rs777369921
|
0.00003
|
|
NM_001267550.2(TTN):c.9166C>T (p.Arg3056Cys)
|
rs377207838
|
0.00003
|
|
NM_001267550.2(TTN):c.91731C>T (p.Asp30577=)
|
rs727505073
|
0.00003
|
|
NM_001267550.2(TTN):c.91782T>C (p.Arg30594=)
|
rs374345957
|
0.00003
|
|
NM_001267550.2(TTN):c.92765C>T (p.Ala30922Val)
|
rs756786292
|
0.00003
|
|
NM_001267550.2(TTN):c.92895C>T (p.Asn30965=)
|
rs1379558944
|
0.00003
|
|
NM_001267550.2(TTN):c.9305+11T>C
|
rs779826179
|
0.00003
|
|
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr)
|
rs376942948
|
0.00003
|
|
NM_001267550.2(TTN):c.93182G>A (p.Arg31061His)
|
rs727504923
|
0.00003
|
|
NM_001267550.2(TTN):c.93242C>T (p.Ala31081Val)
|
rs1032232850
|
0.00003
|
|
NM_001267550.2(TTN):c.93392T>G (p.Val31131Gly)
|
rs1176407616
|
0.00003
|
|
NM_001267550.2(TTN):c.9356C>T (p.Thr3119Ile)
|
rs1444407818
|
0.00003
|
|
NM_001267550.2(TTN):c.93570T>C (p.Asn31190=)
|
rs746309005
|
0.00003
|
|
NM_001267550.2(TTN):c.93581A>G (p.Tyr31194Cys)
|
rs543223589
|
0.00003
|
|
NM_001267550.2(TTN):c.93585T>C (p.Ser31195=)
|
rs754614591
|
0.00003
|
|
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr)
|
rs727505175
|
0.00003
|
|
NM_001267550.2(TTN):c.94187A>C (p.Glu31396Ala)
|
rs768420352
|
0.00003
|
|
NM_001267550.2(TTN):c.9423T>C (p.Phe3141=)
|
rs766671126
|
0.00003
|
|
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys)
|
rs541040798
|
0.00003
|
|
NM_001267550.2(TTN):c.9442C>T (p.Arg3148Cys)
|
rs372196051
|
0.00003
|
|
NM_001267550.2(TTN):c.94452T>C (p.Tyr31484=)
|
rs763668385
|
0.00003
|
|
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile)
|
rs150930737
|
0.00003
|
|
NM_001267550.2(TTN):c.9520G>A (p.Asp3174Asn)
|
rs984157404
|
0.00003
|
|
NM_001267550.2(TTN):c.95336T>C (p.Ile31779Thr)
|
rs1460359915
|
0.00003
|
|
NM_001267550.2(TTN):c.95416+8T>C
|
rs373857496
|
0.00003
|
|
NM_001267550.2(TTN):c.96028+17C>A
|
rs1370661769
|
0.00003
|
|
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter)
|
rs757836789
|
0.00003
|
|
NM_001267550.2(TTN):c.96198C>G (p.Ser32066Arg)
|
rs747323263
|
0.00003
|
|
NM_001267550.2(TTN):c.96310+11T>C
|
rs397517764
|
0.00003
|
|
NM_001267550.2(TTN):c.96384T>C (p.Ile32128=)
|
rs757368075
|
0.00003
|
|
NM_001267550.2(TTN):c.96399T>C (p.Gly32133=)
|
rs371827750
|
0.00003
|
|
NM_001267550.2(TTN):c.96525C>T (p.Tyr32175=)
|
rs778126823
|
0.00003
|
|
NM_001267550.2(TTN):c.96906G>A (p.Val32302=)
|
rs200276343
|
0.00003
|
|
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=)
|
rs771385738
|
0.00003
|
|
NM_001267550.2(TTN):c.96960T>C (p.Ala32320=)
|
rs141431591
|
0.00003
|
|
NM_001267550.2(TTN):c.9713C>T (p.Pro3238Leu)
|
rs397517792
|
0.00003
|
|
NM_001267550.2(TTN):c.97323C>T (p.Asp32441=)
|
rs749961745
|
0.00003
|
|
NM_001267550.2(TTN):c.97324G>A (p.Ala32442Thr)
|
rs778341120
|
0.00003
|
|
NM_001267550.2(TTN):c.97442G>A (p.Gly32481Glu)
|
rs201364164
|
0.00003
|
|
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)
|
rs371645048
|
0.00003
|
|
NM_001267550.2(TTN):c.98022C>T (p.Arg32674=)
|
rs372825562
|
0.00003
|
|
NM_001267550.2(TTN):c.98075C>G (p.Thr32692Arg)
|
rs727505311
|
0.00003
|
|
NM_001267550.2(TTN):c.98098+3G>A
|
rs556524594
|
0.00003
|
|
NM_001267550.2(TTN):c.98119G>C (p.Asp32707His)
|
rs1307768306
|
0.00003
|
|
NM_001267550.2(TTN):c.98278C>T (p.Leu32760Phe)
|
rs1060500523
|
0.00003
|
|
NM_001267550.2(TTN):c.98292A>G (p.Glu32764=)
|
rs750078230
|
0.00003
|
|
NM_001267550.2(TTN):c.98524G>A (p.Ala32842Thr)
|
rs199647622
|
0.00003
|
|
NM_001267550.2(TTN):c.98552G>A (p.Arg32851Gln)
|
rs775915301
|
0.00003
|
|
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met)
|
rs191708454
|
0.00003
|
|
NM_001267550.2(TTN):c.9908C>T (p.Pro3303Leu)
|
rs201379132
|
0.00003
|
|
NM_001267550.2(TTN):c.99261T>G (p.Thr33087=)
|
rs768948785
|
0.00003
|
|
NM_001267550.2(TTN):c.99290-6G>T
|
rs727504987
|
0.00003
|
|
NM_001267550.2(TTN):c.99405C>T (p.Tyr33135=)
|
rs373722322
|
0.00003
|
|
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr)
|
rs761362832
|
0.00003
|
|
NM_001267550.2(TTN):c.99552C>A (p.Thr33184=)
|
rs775848810
|
0.00003
|
|
NM_001267550.2(TTN):c.99840T>C (p.Asp33280=)
|
rs375178211
|
0.00003
|
|
NM_001368067.1(LDB3):c.331A>G (p.Asn111Asp)
|
rs376900496
|
0.00003
|
|
NM_001368067.1(LDB3):c.427C>T (p.Leu143=)
|
rs763783961
|
0.00003
|
|
NM_001368067.1(LDB3):c.817G>A (p.Gly273Ser)
|
rs771037817
|
0.00003
|
|
NM_001378030.1(CCDC78):c.1009T>C (p.Leu337=)
|
rs752141177
|
0.00003
|
|
NM_001378030.1(CCDC78):c.1056C>T (p.His352=)
|
rs371958189
|
0.00003
|
|
NM_001378030.1(CCDC78):c.1230G>A (p.Leu410=)
|
rs768794447
|
0.00003
|
|
NM_001378030.1(CCDC78):c.1237C>T (p.Arg413Trp)
|
rs780967551
|
0.00003
|
|
NM_001378030.1(CCDC78):c.1248G>A (p.Met416Ile)
|
rs1045075829
|
0.00003
|
|
NM_001378030.1(CCDC78):c.165G>T (p.Lys55Asn)
|
rs371931071
|
0.00003
|
|
NM_001378030.1(CCDC78):c.267+10C>T
|
rs199497862
|
0.00003
|
|
NM_001378030.1(CCDC78):c.341C>T (p.Pro114Leu)
|
rs749051279
|
0.00003
|
|
NM_001378030.1(CCDC78):c.364C>T (p.Pro122Ser)
|
rs756781117
|
0.00003
|
|
NM_001378030.1(CCDC78):c.367C>T (p.Arg123Trp)
|
rs144406163
|
0.00003
|
|
NM_001378030.1(CCDC78):c.502G>A (p.Glu168Lys)
|
rs777794522
|
0.00003
|
|
NM_001378030.1(CCDC78):c.666C>G (p.Leu222=)
|
rs778705590
|
0.00003
|
|
NM_001378030.1(CCDC78):c.70C>T (p.Arg24Ter)
|
rs887921636
|
0.00003
|
|
NM_001378030.1(CCDC78):c.880C>T (p.Arg294Trp)
|
rs772096201
|
0.00003
|
|
NM_001378030.1(CCDC78):c.884C>A (p.Ala295Asp)
|
rs1418782154
|
0.00003
|
|
NM_001378030.1(CCDC78):c.890G>A (p.Arg297His)
|
rs768251031
|
0.00003
|
|
NM_001382567.1(STIM1):c.108G>A (p.Ser36=)
|
rs551284324
|
0.00003
|
|
NM_001382567.1(STIM1):c.1204C>T (p.Leu402=)
|
rs201091587
|
0.00003
|
|
NM_001382567.1(STIM1):c.1251C>T (p.Ser417=)
|
rs199782037
|
0.00003
|
|
NM_001382567.1(STIM1):c.1382T>C (p.Met461Thr)
|
rs1444907403
|
0.00003
|
|
NM_001382567.1(STIM1):c.1611A>G (p.Pro537=)
|
rs199512211
|
0.00003
|
|
NM_001382567.1(STIM1):c.1634+7A>G
|
rs371193534
|
0.00003
|
|
NM_001382567.1(STIM1):c.1856A>G (p.His619Arg)
|
rs1176059435
|
0.00003
|
|
NM_001382567.1(STIM1):c.2104C>T (p.Arg702Trp)
|
rs755346239
|
0.00003
|
|
NM_001382567.1(STIM1):c.271-19G>A
|
rs763590946
|
0.00003
|
|
NM_001382567.1(STIM1):c.306A>G (p.Thr102=)
|
rs140167452
|
0.00003
|
|
NM_001382567.1(STIM1):c.393T>C (p.Asn131=)
|
rs764275626
|
0.00003
|
|
NM_001382567.1(STIM1):c.589A>G (p.Thr197Ala)
|
rs367888213
|
0.00003
|
|
NM_001382567.1(STIM1):c.810G>A (p.Glu270=)
|
rs201765594
|
0.00003
|
|
NM_001458.5(FLNC):c.1027A>G (p.Lys343Glu)
|
rs745495679
|
0.00003
|
|
NM_001458.5(FLNC):c.1074C>T (p.Asn358=)
|
rs776805988
|
0.00003
|
|
NM_001458.5(FLNC):c.1211-5G>A
|
rs769599454
|
0.00003
|
|
NM_001458.5(FLNC):c.1239G>A (p.Val413=)
|
rs774716505
|
0.00003
|
|
NM_001458.5(FLNC):c.1305G>A (p.Thr435=)
|
rs779890960
|
0.00003
|
|
NM_001458.5(FLNC):c.1348G>A (p.Val450Met)
|
rs747550431
|
0.00003
|
|
NM_001458.5(FLNC):c.1381C>T (p.Arg461Cys)
|
rs766999669
|
0.00003
|
|
NM_001458.5(FLNC):c.1437C>T (p.Ala479=)
|
rs760412891
|
0.00003
|
|
NM_001458.5(FLNC):c.1471G>A (p.Val491Met)
|
rs770264114
|
0.00003
|
|
NM_001458.5(FLNC):c.1528A>C (p.Lys510Gln)
|
rs955475416
|
0.00003
|
|
NM_001458.5(FLNC):c.1549+18G>C
|
rs756141780
|
0.00003
|
|
NM_001458.5(FLNC):c.1576C>T (p.Arg526Trp)
|
rs758758113
|
0.00003
|
|
NM_001458.5(FLNC):c.1649C>T (p.Thr550Met)
|
rs779802575
|
0.00003
|
|
NM_001458.5(FLNC):c.1770C>T (p.Ala590=)
|
rs367987438
|
0.00003
|
|
NM_001458.5(FLNC):c.1953C>T (p.Asp651=)
|
rs554570268
|
0.00003
|
|
NM_001458.5(FLNC):c.19T>G (p.Tyr7Asp)
|
rs896068048
|
0.00003
|
|
NM_001458.5(FLNC):c.2124C>T (p.Asp708=)
|
rs187481700
|
0.00003
|
|
NM_001458.5(FLNC):c.2130C>T (p.Asp710=)
|
rs778781499
|
0.00003
|
|
NM_001458.5(FLNC):c.2239G>A (p.Val747Ile)
|
rs764876916
|
0.00003
|
|
NM_001458.5(FLNC):c.2265+9T>C
|
rs532692123
|
0.00003
|
|
NM_001458.5(FLNC):c.2266-12C>T
|
rs761615639
|
0.00003
|
|
NM_001458.5(FLNC):c.2281G>A (p.Gly761Ser)
|
rs374691339
|
0.00003
|
|
NM_001458.5(FLNC):c.2316C>T (p.Pro772=)
|
rs377595203
|
0.00003
|
|
NM_001458.5(FLNC):c.2392G>A (p.Asp798Asn)
|
rs778594252
|
0.00003
|
|
NM_001458.5(FLNC):c.2415C>T (p.Cys805=)
|
rs376800693
|
0.00003
|
|
NM_001458.5(FLNC):c.2457C>T (p.Phe819=)
|
rs761900404
|
0.00003
|
|
NM_001458.5(FLNC):c.2478C>T (p.Asn826=)
|
rs756475814
|
0.00003
|
|
NM_001458.5(FLNC):c.2491G>A (p.Val831Ile)
|
rs746478952
|
0.00003
|
|
NM_001458.5(FLNC):c.2500A>G (p.Thr834Ala)
|
rs781169622
|
0.00003
|
|
NM_001458.5(FLNC):c.2673G>A (p.Thr891=)
|
rs761823234
|
0.00003
|
|
NM_001458.5(FLNC):c.2811+14C>T
|
rs780344743
|
0.00003
|
|
NM_001458.5(FLNC):c.2811+6C>T
|
rs750718546
|
0.00003
|
|
NM_001458.5(FLNC):c.282A>G (p.Gln94=)
|
rs772401033
|
0.00003
|
|
NM_001458.5(FLNC):c.2845G>C (p.Asp949His)
|
rs761905908
|
0.00003
|
|
NM_001458.5(FLNC):c.2930-4G>A
|
rs747623690
|
0.00003
|
|
NM_001458.5(FLNC):c.2930-5C>T
|
rs371599113
|
0.00003
|
|
NM_001458.5(FLNC):c.3063G>A (p.Ala1021=)
|
rs774361595
|
0.00003
|
|
NM_001458.5(FLNC):c.3085A>G (p.Met1029Val)
|
rs369078760
|
0.00003
|
|
NM_001458.5(FLNC):c.3186C>T (p.Pro1062=)
|
rs749902294
|
0.00003
|
|
NM_001458.5(FLNC):c.3241G>A (p.Ala1081Thr)
|
rs781760817
|
0.00003
|
|
NM_001458.5(FLNC):c.3260C>G (p.Thr1087Ser)
|
rs372205719
|
0.00003
|
|
NM_001458.5(FLNC):c.3294C>T (p.Thr1098=)
|
rs753772262
|
0.00003
|
|
NM_001458.5(FLNC):c.3353C>T (p.Ala1118Val)
|
rs780461379
|
0.00003
|
|
NM_001458.5(FLNC):c.3376C>G (p.Pro1126Ala)
|
rs748785077
|
0.00003
|
|
NM_001458.5(FLNC):c.342C>T (p.Leu114=)
|
rs368032737
|
0.00003
|
|
NM_001458.5(FLNC):c.3464C>T (p.Pro1155Leu)
|
rs769243979
|
0.00003
|
|
NM_001458.5(FLNC):c.353-4G>T
|
rs758484139
|
0.00003
|
|
NM_001458.5(FLNC):c.3552C>G (p.Gly1184=)
|
rs373310802
|
0.00003
|
|
NM_001458.5(FLNC):c.3622G>A (p.Ala1208Thr)
|
rs528279616
|
0.00003
|
|
NM_001458.5(FLNC):c.366C>T (p.Ile122=)
|
rs369120591
|
0.00003
|
|
NM_001458.5(FLNC):c.3696G>A (p.Gly1232=)
|
rs1057066602
|
0.00003
|
|
NM_001458.5(FLNC):c.3706C>T (p.Pro1236Ser)
|
rs747678267
|
0.00003
|
|
NM_001458.5(FLNC):c.3756C>T (p.Gly1252=)
|
rs113589230
|
0.00003
|
|
NM_001458.5(FLNC):c.3800G>A (p.Arg1267Gln)
|
rs768767784
|
0.00003
|
|
NM_001458.5(FLNC):c.3866C>T (p.Thr1289Met)
|
rs755896234
|
0.00003
|
|
NM_001458.5(FLNC):c.3871C>T (p.Arg1291Cys)
|
rs753591663
|
0.00003
|
|
NM_001458.5(FLNC):c.3951C>T (p.Thr1317=)
|
rs765476086
|
0.00003
|
|
NM_001458.5(FLNC):c.4000G>A (p.Ala1334Thr)
|
rs556477946
|
0.00003
|
|
NM_001458.5(FLNC):c.408G>A (p.Thr136=)
|
rs370110008
|
0.00003
|
|
NM_001458.5(FLNC):c.4127+7T>C
|
rs1436165683
|
0.00003
|
|
NM_001458.5(FLNC):c.4218C>T (p.Thr1406=)
|
rs748827721
|
0.00003
|
|
NM_001458.5(FLNC):c.4413A>T (p.Gln1471His)
|
rs765435961
|
0.00003
|
|
NM_001458.5(FLNC):c.4420C>T (p.Arg1474Trp)
|
rs372454458
|
0.00003
|
|
NM_001458.5(FLNC):c.4425G>A (p.Ala1475=)
|
rs371971762
|
0.00003
|
|
NM_001458.5(FLNC):c.4468C>T (p.Pro1490Ser)
|
rs754076573
|
0.00003
|
|
NM_001458.5(FLNC):c.4530C>T (p.Asp1510=)
|
rs565243603
|
0.00003
|
|
NM_001458.5(FLNC):c.4614T>C (p.Asp1538=)
|
rs746563597
|
0.00003
|
|
NM_001458.5(FLNC):c.4825C>T (p.Arg1609Trp)
|
rs374756527
|
0.00003
|
|
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)
|
rs879255639
|
0.00003
|
|
NM_001458.5(FLNC):c.4872G>A (p.Ser1624=)
|
rs767264014
|
0.00003
|
|
NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg)
|
rs1469272964
|
0.00003
|
|
NM_001458.5(FLNC):c.4970G>A (p.Arg1657Gln)
|
rs374294752
|
0.00003
|
|
NM_001458.5(FLNC):c.5000C>T (p.Thr1667Met)
|
rs753945728
|
0.00003
|
|
NM_001458.5(FLNC):c.5001G>A (p.Thr1667=)
|
rs370711488
|
0.00003
|
|
NM_001458.5(FLNC):c.5165G>C (p.Gly1722Ala)
|
rs775405275
|
0.00003
|
|
NM_001458.5(FLNC):c.5217G>A (p.Pro1739=)
|
rs769643482
|
0.00003
|
|
NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln)
|
rs573984029
|
0.00003
|
|
NM_001458.5(FLNC):c.5280C>T (p.Gly1760=)
|
rs563285308
|
0.00003
|
|
NM_001458.5(FLNC):c.5377G>A (p.Val1793Met)
|
rs587780337
|
0.00003
|
|
NM_001458.5(FLNC):c.5469G>C (p.Thr1823=)
|
rs550620019
|
0.00003
|
|
NM_001458.5(FLNC):c.550G>A (p.Asp184Asn)
|
rs1215344798
|
0.00003
|
|
NM_001458.5(FLNC):c.5540-6C>G
|
rs201335006
|
0.00003
|
|
NM_001458.5(FLNC):c.5668+15G>A
|
rs766668215
|
0.00003
|
|
NM_001458.5(FLNC):c.5910C>T (p.Thr1970=)
|
rs544613263
|
0.00003
|
|
NM_001458.5(FLNC):c.5984G>A (p.Arg1995His)
|
rs371508414
|
0.00003
|
|
NM_001458.5(FLNC):c.602-16T>A
|
rs1236096502
|
0.00003
|
|
NM_001458.5(FLNC):c.6040G>A (p.Val2014Met)
|
rs772477251
|
0.00003
|
|
NM_001458.5(FLNC):c.612C>T (p.Pro204=)
|
rs368103032
|
0.00003
|
|
NM_001458.5(FLNC):c.6203A>G (p.Asn2068Ser)
|
rs746724687
|
0.00003
|
|
NM_001458.5(FLNC):c.6471C>T (p.Asn2157=)
|
rs764877771
|
0.00003
|
|
NM_001458.5(FLNC):c.6538C>T (p.Arg2180Cys)
|
rs779029827
|
0.00003
|
|
NM_001458.5(FLNC):c.6569G>A (p.Arg2190His)
|
rs762680314
|
0.00003
|
|
NM_001458.5(FLNC):c.6573G>A (p.Thr2191=)
|
rs761680664
|
0.00003
|
|
NM_001458.5(FLNC):c.6595G>A (p.Gly2199Arg)
|
rs368977589
|
0.00003
|
|
NM_001458.5(FLNC):c.6642C>T (p.Gly2214=)
|
rs546247674
|
0.00003
|
|
NM_001458.5(FLNC):c.6711C>G (p.Ile2237Met)
|
rs781708543
|
0.00003
|
|
NM_001458.5(FLNC):c.6715C>T (p.Arg2239Trp)
|
rs367820987
|
0.00003
|
|
NM_001458.5(FLNC):c.6727+9C>T
|
rs770803250
|
0.00003
|
|
NM_001458.5(FLNC):c.6779A>G (p.Lys2260Arg)
|
rs751019991
|
0.00003
|
|
NM_001458.5(FLNC):c.6801C>T (p.Val2267=)
|
rs768689551
|
0.00003
|
|
NM_001458.5(FLNC):c.7107C>T (p.Cys2369=)
|
rs781154278
|
0.00003
|
|
NM_001458.5(FLNC):c.7123G>A (p.Val2375Ile)
|
rs768941858
|
0.00003
|
|
NM_001458.5(FLNC):c.7291G>A (p.Val2431Met)
|
rs572952653
|
0.00003
|
|
NM_001458.5(FLNC):c.7309C>T (p.Arg2437Trp)
|
rs756353876
|
0.00003
|
|
NM_001458.5(FLNC):c.7400G>A (p.Arg2467His)
|
rs775910704
|
0.00003
|
|
NM_001458.5(FLNC):c.7484G>A (p.Arg2495His)
|
rs757219498
|
0.00003
|
|
NM_001458.5(FLNC):c.7545C>T (p.Leu2515=)
|
rs369791058
|
0.00003
|
|
NM_001458.5(FLNC):c.7562-5C>T
|
rs773923745
|
0.00003
|
|
NM_001458.5(FLNC):c.7564G>A (p.Val2522Met)
|
rs780917403
|
0.00003
|
|
NM_001458.5(FLNC):c.767A>G (p.Gln256Arg)
|
rs760009430
|
0.00003
|
|
NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met)
|
rs1175931652
|
0.00003
|
|
NM_001458.5(FLNC):c.7948G>A (p.Val2650Met)
|
rs372172779
|
0.00003
|
|
NM_001458.5(FLNC):c.7971C>T (p.Thr2657=)
|
rs758833148
|
0.00003
|
|
NM_001458.5(FLNC):c.8059A>G (p.Met2687Val)
|
rs369110441
|
0.00003
|
|
NM_001458.5(FLNC):c.897C>T (p.Thr299=)
|
rs575141899
|
0.00003
|
|
NM_001458.5(FLNC):c.898G>A (p.Val300Met)
|
rs765885585
|
0.00003
|
|
NM_001458.5(FLNC):c.919G>A (p.Val307Met)
|
rs763968152
|
0.00003
|
|
NM_001458.5(FLNC):c.970-20A>G
|
rs751696900
|
0.00003
|
|
NM_001843.4(CNTN1):c.1229-8del
|
rs754948008
|
0.00003
|
|
NM_001843.4(CNTN1):c.1449A>G (p.Thr483=)
|
rs763469800
|
0.00003
|
|
NM_001843.4(CNTN1):c.1466A>T (p.Asn489Ile)
|
rs573923461
|
0.00003
|
|
NM_001843.4(CNTN1):c.1484G>A (p.Ser495Asn)
|
rs201639044
|
0.00003
|
|
NM_001843.4(CNTN1):c.1515G>A (p.Thr505=)
|
rs148905523
|
0.00003
|
|
NM_001843.4(CNTN1):c.1526T>C (p.Leu509Ser)
|
rs973419081
|
0.00003
|
|
NM_001843.4(CNTN1):c.2002G>A (p.Ala668Thr)
|
rs549628424
|
0.00003
|
|
NM_001843.4(CNTN1):c.2284C>T (p.Pro762Ser)
|
rs566695601
|
0.00003
|
|
NM_001843.4(CNTN1):c.2788G>T (p.Ala930Ser)
|
rs756665946
|
0.00003
|
|
NM_001843.4(CNTN1):c.401-8G>A
|
rs575754931
|
0.00003
|
|
NM_001843.4(CNTN1):c.495A>G (p.Pro165=)
|
rs751830078
|
0.00003
|
|
NM_001843.4(CNTN1):c.633C>T (p.Cys211=)
|
rs746981200
|
0.00003
|
|
NM_001843.4(CNTN1):c.733G>A (p.Val245Ile)
|
rs1478025106
|
0.00003
|
|
NM_001843.4(CNTN1):c.813G>A (p.Pro271=)
|
rs778411720
|
0.00003
|
|
NM_001848.3(COL6A1):c.1059C>T (p.Gly353=)
|
rs371231107
|
0.00003
|
|
NM_001848.3(COL6A1):c.1093G>A (p.Gly365Ser)
|
rs558291025
|
0.00003
|
|
NM_001848.3(COL6A1):c.1145C>T (p.Ala382Val)
|
rs765631918
|
0.00003
|
|
NM_001848.3(COL6A1):c.1272+11C>T
|
rs371785147
|
0.00003
|
|
NM_001848.3(COL6A1):c.1362G>A (p.Gln454=)
|
rs762392600
|
0.00003
|
|
NM_001848.3(COL6A1):c.1399-8C>G
|
rs749529856
|
0.00003
|
|
NM_001848.3(COL6A1):c.1505C>T (p.Pro502Leu)
|
rs398123632
|
0.00003
|
|
NM_001848.3(COL6A1):c.1521A>G (p.Glu507=)
|
rs781233511
|
0.00003
|
|
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser)
|
rs201153092
|
0.00003
|
|
NM_001848.3(COL6A1):c.1539C>T (p.Pro513=)
|
rs150834054
|
0.00003
|
|
NM_001848.3(COL6A1):c.1566C>T (p.Pro522=)
|
rs753063150
|
0.00003
|
|
NM_001848.3(COL6A1):c.1647G>A (p.Glu549=)
|
rs532756899
|
0.00003
|
|
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=)
|
rs770099663
|
0.00003
|
|
NM_001848.3(COL6A1):c.1931G>A (p.Arg644Gln)
|
rs398123634
|
0.00003
|
|
NM_001848.3(COL6A1):c.1957-10G>A
|
rs761863286
|
0.00003
|
|
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)
|
rs375318905
|
0.00003
|
|
NM_001848.3(COL6A1):c.1976A>T (p.Tyr659Phe)
|
rs752045107
|
0.00003
|
|
NM_001848.3(COL6A1):c.1979C>T (p.Ala660Val)
|
rs748997622
|
0.00003
|
|
NM_001848.3(COL6A1):c.2019C>T (p.His673=)
|
rs141424786
|
0.00003
|
|
NM_001848.3(COL6A1):c.2242G>A (p.Gly748Ser)
|
rs142881632
|
0.00003
|
|
NM_001848.3(COL6A1):c.2251-20G>A
|
rs369894106
|
0.00003
|
|
NM_001848.3(COL6A1):c.2289C>A (p.Ile763=)
|
rs751446262
|
0.00003
|
|
NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr)
|
rs529770550
|
0.00003
|
|
NM_001848.3(COL6A1):c.2548C>A (p.Arg850Ser)
|
rs566453317
|
0.00003
|
|
NM_001848.3(COL6A1):c.2603C>T (p.Ala868Val)
|
rs565089447
|
0.00003
|
|
NM_001848.3(COL6A1):c.262G>A (p.Ala88Thr)
|
rs540429266
|
0.00003
|
|
NM_001848.3(COL6A1):c.2743G>A (p.Asp915Asn)
|
rs763910773
|
0.00003
|
|
NM_001848.3(COL6A1):c.2765A>G (p.Tyr922Cys)
|
rs886043011
|
0.00003
|
|
NM_001848.3(COL6A1):c.2848G>A (p.Ala950Thr)
|
rs771844518
|
0.00003
|
|
NM_001848.3(COL6A1):c.2863A>G (p.Ile955Val)
|
rs373070436
|
0.00003
|
|
NM_001848.3(COL6A1):c.2910C>T (p.Phe970=)
|
rs759623301
|
0.00003
|
|
NM_001848.3(COL6A1):c.2950C>T (p.Arg984Cys)
|
rs568039462
|
0.00003
|
|
NM_001848.3(COL6A1):c.2951G>A (p.Arg984His)
|
rs746877994
|
0.00003
|
|
NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser)
|
rs763470078
|
0.00003
|
|
NM_001848.3(COL6A1):c.311C>T (p.Thr104Met)
|
rs781396484
|
0.00003
|
|
NM_001848.3(COL6A1):c.340A>G (p.Lys114Glu)
|
rs763049658
|
0.00003
|
|
NM_001848.3(COL6A1):c.378C>T (p.Gly126=)
|
rs776619127
|
0.00003
|
|
NM_001848.3(COL6A1):c.423C>T (p.Leu141=)
|
rs373486149
|
0.00003
|
|
NM_001848.3(COL6A1):c.471C>T (p.Thr157=)
|
rs376650683
|
0.00003
|
|
NM_001848.3(COL6A1):c.665G>A (p.Arg222His)
|
rs780638665
|
0.00003
|
|
NM_001848.3(COL6A1):c.68C>T (p.Pro23Leu)
|
rs775946362
|
0.00003
|
|
NM_001848.3(COL6A1):c.706G>A (p.Val236Met)
|
rs145269003
|
0.00003
|
|
NM_001848.3(COL6A1):c.750C>A (p.Phe250Leu)
|
rs748153811
|
0.00003
|
|
NM_001848.3(COL6A1):c.759+13C>T
|
rs1250324207
|
0.00003
|
|
NM_001848.3(COL6A1):c.919C>T (p.Arg307Cys)
|
rs780703597
|
0.00003
|
|
NM_001848.3(COL6A1):c.930+13C>T
|
rs370271954
|
0.00003
|
|
NM_001848.3(COL6A1):c.951C>T (p.Gly317=)
|
rs770350586
|
0.00003
|
|
NM_001849.4(COL6A2):c.1052G>A (p.Arg351Gln)
|
rs747093518
|
0.00003
|
|
NM_001849.4(COL6A2):c.115+10G>T
|
rs200797233
|
0.00003
|
|
NM_001849.4(COL6A2):c.1180-12C>T
|
rs1189408610
|
0.00003
|
|
NM_001849.4(COL6A2):c.1237G>A (p.Gly413Arg)
|
rs762490709
|
0.00003
|
|
NM_001849.4(COL6A2):c.1287C>T (p.Pro429=)
|
rs755258603
|
0.00003
|
|
NM_001849.4(COL6A2):c.1359C>T (p.Arg453=)
|
rs750842859
|
0.00003
|
|
NM_001849.4(COL6A2):c.1395+9G>C
|
rs747883263
|
0.00003
|
|
NM_001849.4(COL6A2):c.1410G>A (p.Leu470=)
|
rs145012001
|
0.00003
|
|
NM_001849.4(COL6A2):c.1447C>T (p.Pro483Ser)
|
rs375694341
|
0.00003
|
|
NM_001849.4(COL6A2):c.1461del (p.Ser488fs)
|
rs398123645
|
0.00003
|
|
NM_001849.4(COL6A2):c.1522-7C>T
|
rs200501842
|
0.00003
|
|
NM_001849.4(COL6A2):c.1598G>A (p.Arg533His)
|
rs781676156
|
0.00003
|
|
NM_001849.4(COL6A2):c.162G>A (p.Ser54=)
|
rs780123839
|
0.00003
|
|
NM_001849.4(COL6A2):c.1671+13G>A
|
rs756078022
|
0.00003
|
|
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile)
|
rs768434256
|
0.00003
|
|
NM_001849.4(COL6A2):c.1770G>A (p.Thr590=)
|
rs150999832
|
0.00003
|
|
NM_001849.4(COL6A2):c.1792G>A (p.Val598Met)
|
rs149731632
|
0.00003
|
|
NM_001849.4(COL6A2):c.1809G>A (p.Gly603=)
|
rs767902639
|
0.00003
|
|
NM_001849.4(COL6A2):c.1829G>A (p.Arg610His)
|
rs758550765
|
0.00003
|
|
NM_001849.4(COL6A2):c.1855G>A (p.Val619Ile)
|
rs7283272
|
0.00003
|
|
NM_001849.4(COL6A2):c.1872G>A (p.Glu624=)
|
rs147566231
|
0.00003
|
|
NM_001849.4(COL6A2):c.1962C>T (p.Ser654=)
|
rs150253422
|
0.00003
|
|
NM_001849.4(COL6A2):c.1969+4A>C
|
rs775997945
|
0.00003
|
|
NM_001849.4(COL6A2):c.1969+6C>T
|
rs374669895
|
0.00003
|
|
NM_001849.4(COL6A2):c.2084A>C (p.Glu695Ala)
|
rs774611719
|
0.00003
|
|
NM_001849.4(COL6A2):c.2158C>T (p.Arg720Cys)
|
rs748592288
|
0.00003
|
|
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln)
|
rs768280699
|
0.00003
|
|
NM_001849.4(COL6A2):c.2235G>T (p.Arg745=)
|
rs773668391
|
0.00003
|
|
NM_001849.4(COL6A2):c.2243G>A (p.Cys748Tyr)
|
rs200072495
|
0.00003
|
|
NM_001849.4(COL6A2):c.2319C>T (p.Tyr773=)
|
rs377458657
|
0.00003
|
|
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=)
|
rs566966690
|
0.00003
|
|
NM_001849.4(COL6A2):c.2461+10G>A
|
rs777710817
|
0.00003
|
|
NM_001849.4(COL6A2):c.2461+16C>T
|
rs769731536
|
0.00003
|
|
NM_001849.4(COL6A2):c.2462-17C>T
|
rs1368389922
|
0.00003
|
|
NM_001849.4(COL6A2):c.2462-5C>T
|
rs760890154
|
0.00003
|
|
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp)
|
rs373072443
|
0.00003
|
|
NM_001849.4(COL6A2):c.2527C>T (p.Arg843Trp)
|
rs376880198
|
0.00003
|
|
NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr)
|
rs374166613
|
0.00003
|
|
NM_001849.4(COL6A2):c.2595G>A (p.Leu865=)
|
rs1474756520
|
0.00003
|
|
NM_001849.4(COL6A2):c.2733G>A (p.Leu911=)
|
rs139798208
|
0.00003
|
|
NM_001849.4(COL6A2):c.2755G>A (p.Ala919Thr)
|
rs372523558
|
0.00003
|
|
NM_001849.4(COL6A2):c.2773A>C (p.Ile925Leu)
|
rs772894756
|
0.00003
|
|
NM_001849.4(COL6A2):c.2806G>A (p.Ala936Thr)
|
rs376173871
|
0.00003
|
|
NM_001849.4(COL6A2):c.2843C>T (p.Thr948Met)
|
rs367980010
|
0.00003
|
|
NM_001849.4(COL6A2):c.284G>A (p.Arg95His)
|
rs886042690
|
0.00003
|
|
NM_001849.4(COL6A2):c.2985C>T (p.Ala995=)
|
rs752243349
|
0.00003
|
|
NM_001849.4(COL6A2):c.332C>T (p.Pro111Leu)
|
rs747184649
|
0.00003
|
|
NM_001849.4(COL6A2):c.333G>A (p.Pro111=)
|
rs370531466
|
0.00003
|
|
NM_001849.4(COL6A2):c.471C>T (p.Ala157=)
|
rs372298335
|
0.00003
|
|
NM_001849.4(COL6A2):c.522G>A (p.Lys174=)
|
rs554016354
|
0.00003
|
|
NM_001849.4(COL6A2):c.581A>G (p.Gln194Arg)
|
rs113509166
|
0.00003
|
|
NM_001849.4(COL6A2):c.596A>G (p.Gln199Arg)
|
rs886044068
|
0.00003
|
|
NM_001849.4(COL6A2):c.673G>A (p.Glu225Lys)
|
rs770150581
|
0.00003
|
|
NM_001849.4(COL6A2):c.720C>T (p.His240=)
|
rs763803023
|
0.00003
|
|
NM_001849.4(COL6A2):c.729C>T (p.Tyr243=)
|
rs200824569
|
0.00003
|
|
NM_001849.4(COL6A2):c.863C>T (p.Pro288Leu)
|
rs745566911
|
0.00003
|
|
NM_001849.4(COL6A2):c.879C>T (p.Pro293=)
|
rs138389174
|
0.00003
|
|
NM_001849.4(COL6A2):c.903C>T (p.Gly301=)
|
rs541325013
|
0.00003
|
|
NM_001849.4(COL6A2):c.904G>A (p.Val302Ile)
|
rs755822013
|
0.00003
|
|
NM_001849.4(COL6A2):c.999+14C>T
|
rs761013382
|
0.00003
|
|
NM_001927.4(DES):c.1064G>A (p.Arg355Gln)
|
rs61368398
|
0.00003
|
|
NM_001927.4(DES):c.226del (p.Thr76fs)
|
rs1399282762
|
0.00003
|
|
NM_001927.4(DES):c.229A>G (p.Thr77Ala)
|
rs769034192
|
0.00003
|
|
NM_001927.4(DES):c.233G>T (p.Arg78Leu)
|
rs573916832
|
0.00003
|
|
NM_001927.4(DES):c.367A>G (p.Ile123Val)
|
rs376048590
|
0.00003
|
|
NM_001927.4(DES):c.391C>A (p.Gln131Lys)
|
rs771499260
|
0.00003
|
|
NM_001927.4(DES):c.461T>A (p.Leu154His)
|
rs755106109
|
0.00003
|
|
NM_001927.4(DES):c.637G>A (p.Ala213Thr)
|
rs918962036
|
0.00003
|
|
NM_001927.4(DES):c.936C>T (p.Asp312=)
|
rs769213907
|
0.00003
|
|
NM_003283.6(TNNT1):c.102G>A (p.Glu34=)
|
rs766589504
|
0.00003
|
|
NM_003283.6(TNNT1):c.387+14C>T
|
rs372717424
|
0.00003
|
|
NM_003283.6(TNNT1):c.387G>A (p.Ala129=)
|
rs1415980730
|
0.00003
|
|
NM_003283.6(TNNT1):c.47-6C>G
|
rs375682055
|
0.00003
|
|
NM_003283.6(TNNT1):c.508C>G (p.Gln170Glu)
|
rs62126315
|
0.00003
|
|
NM_003283.6(TNNT1):c.815G>A (p.Arg272His)
|
rs533424787
|
0.00003
|
|
NM_004168.4(SDHA):c.1215C>T (p.Thr405=)
|
rs762888704
|
0.00003
|
|
NM_004168.4(SDHA):c.1233C>T (p.Gly411=)
|
rs376530094
|
0.00003
|
|
NM_004168.4(SDHA):c.1260+20C>T
|
rs779828602
|
0.00003
|
|
NM_004168.4(SDHA):c.1272C>T (p.His424=)
|
rs754805626
|
0.00003
|
|
NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr)
|
rs754893758
|
0.00003
|
|
NM_004168.4(SDHA):c.1335G>A (p.Ser445=)
|
rs200223188
|
0.00003
|
|
NM_004168.4(SDHA):c.149C>T (p.Ser50Phe)
|
rs369321221
|
0.00003
|
|
NM_004168.4(SDHA):c.1542C>G (p.Ser514Arg)
|
rs1301221379
|
0.00003
|
|
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr)
|
rs150326789
|
0.00003
|
|
NM_004168.4(SDHA):c.1573G>A (p.Val525Met)
|
rs979815942
|
0.00003
|
|
NM_004168.4(SDHA):c.1629T>C (p.Tyr543=)
|
rs747249998
|
0.00003
|
|
NM_004168.4(SDHA):c.1664-20G>A
|
rs1310666225
|
0.00003
|
|
NM_004168.4(SDHA):c.1666A>G (p.Met556Val)
|
rs980397872
|
0.00003
|
|
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg)
|
rs771111180
|
0.00003
|
|
NM_004168.4(SDHA):c.1773G>A (p.Ala591=)
|
rs555028212
|
0.00003
|
|
NM_004168.4(SDHA):c.1782G>A (p.Arg594=)
|
rs751329013
|
0.00003
|
|
NM_004168.4(SDHA):c.1794+3G>C
|
rs375883981
|
0.00003
|
|
NM_004168.4(SDHA):c.1895T>C (p.Val632Ala)
|
rs774609159
|
0.00003
|
|
NM_004168.4(SDHA):c.18C>T (p.Gly6=)
|
rs775847689
|
0.00003
|
|
NM_004168.4(SDHA):c.191C>T (p.Ala64Val)
|
rs760510019
|
0.00003
|
|
NM_004168.4(SDHA):c.1935C>G (p.Ile645Met)
|
rs762128553
|
0.00003
|
|
NM_004168.4(SDHA):c.1936G>A (p.Asp646Asn)
|
rs376986935
|
0.00003
|
|
NM_004168.4(SDHA):c.1942A>C (p.Thr648Pro)
|
rs758054627
|
0.00003
|
|
NM_004168.4(SDHA):c.1974G>T (p.Pro658=)
|
rs1042446
|
0.00003
|
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
|
NM_004168.4(SDHA):c.391G>A (p.Asp131Asn)
|
rs1324014370
|
0.00003
|
|
NM_004168.4(SDHA):c.424A>G (p.Met142Val)
|
rs776848209
|
0.00003
|
|
NM_004168.4(SDHA):c.441C>T (p.Pro147=)
|
rs201453889
|
0.00003
|
|
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys)
|
rs778737664
|
0.00003
|
|
NM_004168.4(SDHA):c.512G>A (p.Arg171His)
|
rs587782076
|
0.00003
|
|
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala)
|
rs373340696
|
0.00003
|
|
NM_004168.4(SDHA):c.613T>C (p.Tyr205His)
|
rs61754481
|
0.00003
|
|
NM_004168.4(SDHA):c.706G>A (p.Ala236Thr)
|
rs774160524
|
0.00003
|
|
NM_004168.4(SDHA):c.770+9C>G
|
rs538621686
|
0.00003
|
|
NM_004168.4(SDHA):c.771-4C>T
|
rs1360537551
|
0.00003
|
|
NM_004168.4(SDHA):c.800C>T (p.Thr267Met)
|
rs777167108
|
0.00003
|
|
NM_004168.4(SDHA):c.801G>A (p.Thr267=)
|
rs543630901
|
0.00003
|
|
NM_004281.4(BAG3):c.1028G>C (p.Arg343Pro)
|
rs774085746
|
0.00003
|
|
NM_004281.4(BAG3):c.1264G>A (p.Val422Met)
|
rs371476147
|
0.00003
|
|
NM_004281.4(BAG3):c.1281C>T (p.Ala427=)
|
rs748724796
|
0.00003
|
|
NM_004281.4(BAG3):c.1312G>T (p.Ala438Ser)
|
rs1031608025
|
0.00003
|
|
NM_004281.4(BAG3):c.138C>T (p.Thr46=)
|
rs777267711
|
0.00003
|
|
NM_004281.4(BAG3):c.1563G>A (p.Leu521=)
|
rs1045652182
|
0.00003
|
|
NM_004281.4(BAG3):c.336T>C (p.His112=)
|
rs1292256256
|
0.00003
|
|
NM_004281.4(BAG3):c.468G>A (p.Ala156=)
|
rs752056366
|
0.00003
|
|
NM_004281.4(BAG3):c.483G>A (p.Gln161=)
|
rs758279156
|
0.00003
|
|
NM_004281.4(BAG3):c.485C>T (p.Pro162Leu)
|
rs373446989
|
0.00003
|
|
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln)
|
rs140904592
|
0.00003
|
|
NM_004281.4(BAG3):c.781C>T (p.Arg261Trp)
|
rs548032105
|
0.00003
|
|
NM_004281.4(BAG3):c.854C>T (p.Thr285Met)
|
rs375650805
|
0.00003
|
|
NM_004281.4(BAG3):c.891C>T (p.Thr297=)
|
rs372571986
|
0.00003
|
|
NM_004281.4(BAG3):c.961C>T (p.Pro321Ser)
|
rs376832654
|
0.00003
|
|
NM_004369.4(COL6A3):c.1087C>T (p.Arg363Cys)
|
rs759280111
|
0.00003
|
|
NM_004369.4(COL6A3):c.1217G>A (p.Arg406His)
|
rs753651742
|
0.00003
|
|
NM_004369.4(COL6A3):c.1506T>C (p.His502=)
|
rs770990749
|
0.00003
|
|
NM_004369.4(COL6A3):c.1566C>A (p.Ala522=)
|
rs771948237
|
0.00003
|
|
NM_004369.4(COL6A3):c.1574C>T (p.Thr525Met)
|
rs755178814
|
0.00003
|
|
NM_004369.4(COL6A3):c.1614G>A (p.Thr538=)
|
rs535142787
|
0.00003
|
|
NM_004369.4(COL6A3):c.1636G>A (p.Ala546Thr)
|
rs150377792
|
0.00003
|
|
NM_004369.4(COL6A3):c.1751A>G (p.Asn584Ser)
|
rs375285237
|
0.00003
|
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
|
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=)
|
rs114278376
|
0.00003
|
|
NM_004369.4(COL6A3):c.1898-5T>C
|
rs373563217
|
0.00003
|
|
NM_004369.4(COL6A3):c.2068G>A (p.Glu690Lys)
|
rs368161217
|
0.00003
|
|
NM_004369.4(COL6A3):c.2153A>G (p.Asn718Ser)
|
rs748641277
|
0.00003
|
|
NM_004369.4(COL6A3):c.2219G>A (p.Arg740His)
|
rs529827991
|
0.00003
|
|
NM_004369.4(COL6A3):c.2269G>A (p.Asp757Asn)
|
rs544229002
|
0.00003
|
|
NM_004369.4(COL6A3):c.2497+9C>A
|
rs774198344
|
0.00003
|
|
NM_004369.4(COL6A3):c.249C>T (p.Phe83=)
|
rs758434537
|
0.00003
|
|
NM_004369.4(COL6A3):c.252C>T (p.Asn84=)
|
rs765786832
|
0.00003
|
|
NM_004369.4(COL6A3):c.2561T>C (p.Val854Ala)
|
rs747449879
|
0.00003
|
|
NM_004369.4(COL6A3):c.2730G>A (p.Thr910=)
|
rs367991818
|
0.00003
|
|
NM_004369.4(COL6A3):c.2993C>T (p.Ser998Leu)
|
rs774161895
|
0.00003
|
|
NM_004369.4(COL6A3):c.2998C>T (p.Pro1000Ser)
|
rs762584015
|
0.00003
|
|
NM_004369.4(COL6A3):c.3311C>T (p.Pro1104Leu)
|
rs371991808
|
0.00003
|
|
NM_004369.4(COL6A3):c.3371C>T (p.Ala1124Val)
|
rs374447921
|
0.00003
|
|
NM_004369.4(COL6A3):c.3472G>A (p.Gly1158Ser)
|
rs753056634
|
0.00003
|
|
NM_004369.4(COL6A3):c.3653C>T (p.Pro1218Leu)
|
rs75071027
|
0.00003
|
|
NM_004369.4(COL6A3):c.3654G>A (p.Pro1218=)
|
rs778039312
|
0.00003
|
|
NM_004369.4(COL6A3):c.3679+4C>T
|
rs774411894
|
0.00003
|
|
NM_004369.4(COL6A3):c.3680-18C>G
|
rs528379574
|
0.00003
|
|
NM_004369.4(COL6A3):c.3861C>T (p.Asn1287=)
|
rs113247852
|
0.00003
|
|
NM_004369.4(COL6A3):c.3862G>A (p.Ala1288Thr)
|
rs761799119
|
0.00003
|
|
NM_004369.4(COL6A3):c.3894G>A (p.Ala1298=)
|
rs777277026
|
0.00003
|
|
NM_004369.4(COL6A3):c.3933C>T (p.Asn1311=)
|
rs763164666
|
0.00003
|
|
NM_004369.4(COL6A3):c.4007T>C (p.Val1336Ala)
|
rs760059705
|
0.00003
|
|
NM_004369.4(COL6A3):c.4197C>A (p.Ser1399Arg)
|
rs755091615
|
0.00003
|
|
NM_004369.4(COL6A3):c.4227G>A (p.Thr1409=)
|
rs142938239
|
0.00003
|
|
NM_004369.4(COL6A3):c.4254G>A (p.Lys1418=)
|
rs528204718
|
0.00003
|
|
NM_004369.4(COL6A3):c.4285+14G>A
|
rs373893821
|
0.00003
|
|
NM_004369.4(COL6A3):c.4293G>A (p.Glu1431=)
|
rs751433682
|
0.00003
|
|
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe)
|
rs144314743
|
0.00003
|
|
NM_004369.4(COL6A3):c.438C>T (p.Ile146=)
|
rs781449958
|
0.00003
|
|
NM_004369.4(COL6A3):c.439G>A (p.Val147Ile)
|
rs536452909
|
0.00003
|
|
NM_004369.4(COL6A3):c.4402A>G (p.Ile1468Val)
|
rs759366102
|
0.00003
|
|
NM_004369.4(COL6A3):c.4697C>T (p.Ser1566Leu)
|
rs752785838
|
0.00003
|
|
NM_004369.4(COL6A3):c.4813A>G (p.Ile1605Val)
|
rs111389165
|
0.00003
|
|
NM_004369.4(COL6A3):c.4866T>A (p.Pro1622=)
|
rs773082911
|
0.00003
|
|
NM_004369.4(COL6A3):c.4964T>C (p.Phe1655Ser)
|
rs747965230
|
0.00003
|
|
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=)
|
rs140516220
|
0.00003
|
|
NM_004369.4(COL6A3):c.5095A>C (p.Lys1699Gln)
|
rs1311406995
|
0.00003
|
|
NM_004369.4(COL6A3):c.5112C>T (p.Asp1704=)
|
rs759756382
|
0.00003
|
|
NM_004369.4(COL6A3):c.5213G>A (p.Arg1738His)
|
rs774808500
|
0.00003
|
|
NM_004369.4(COL6A3):c.5326G>T (p.Val1776Phe)
|
rs754788931
|
0.00003
|
|
NM_004369.4(COL6A3):c.5349G>A (p.Ser1783=)
|
rs752102793
|
0.00003
|
|
NM_004369.4(COL6A3):c.5575G>A (p.Glu1859Lys)
|
rs886043180
|
0.00003
|
|
NM_004369.4(COL6A3):c.5769C>T (p.Tyr1923=)
|
rs751915461
|
0.00003
|
|
NM_004369.4(COL6A3):c.5822C>T (p.Ser1941Leu)
|
rs778288464
|
0.00003
|
|
NM_004369.4(COL6A3):c.5877G>C (p.Leu1959=)
|
rs752905591
|
0.00003
|
|
NM_004369.4(COL6A3):c.5969G>A (p.Arg1990Gln)
|
rs780489910
|
0.00003
|
|
NM_004369.4(COL6A3):c.6001A>G (p.Met2001Val)
|
rs201539582
|
0.00003
|
|
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=)
|
rs762950440
|
0.00003
|
|
NM_004369.4(COL6A3):c.6157-17C>T
|
rs199764618
|
0.00003
|
|
NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu)
|
rs113331139
|
0.00003
|
|
NM_004369.4(COL6A3):c.624C>T (p.Asp208=)
|
rs757316338
|
0.00003
|
|
NM_004369.4(COL6A3):c.6282+7C>T
|
rs779630783
|
0.00003
|
|
NM_004369.4(COL6A3):c.6451G>C (p.Val2151Leu)
|
rs768565928
|
0.00003
|
|
NM_004369.4(COL6A3):c.6555T>C (p.Asp2185=)
|
rs199869924
|
0.00003
|
|
NM_004369.4(COL6A3):c.6639C>A (p.Gly2213=)
|
rs765837100
|
0.00003
|
|
NM_004369.4(COL6A3):c.6675G>A (p.Gly2225=)
|
rs538533719
|
0.00003
|
|
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu)
|
rs398124131
|
0.00003
|
|
NM_004369.4(COL6A3):c.686C>T (p.Thr229Met)
|
rs141586922
|
0.00003
|
|
NM_004369.4(COL6A3):c.6888C>T (p.Asp2296=)
|
rs762210213
|
0.00003
|
|
NM_004369.4(COL6A3):c.7192G>A (p.Val2398Ile)
|
rs375640580
|
0.00003
|
|
NM_004369.4(COL6A3):c.7356C>T (p.Asn2452=)
|
rs569662223
|
0.00003
|
|
NM_004369.4(COL6A3):c.7402G>A (p.Val2468Ile)
|
rs527516269
|
0.00003
|
|
NM_004369.4(COL6A3):c.7475C>T (p.Ser2492Leu)
|
rs754480145
|
0.00003
|
|
NM_004369.4(COL6A3):c.7608G>A (p.Ala2536=)
|
rs749750613
|
0.00003
|
|
NM_004369.4(COL6A3):c.764G>A (p.Ser255Asn)
|
rs755138368
|
0.00003
|
|
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)
|
rs786205870
|
0.00003
|
|
NM_004369.4(COL6A3):c.7687G>C (p.Gly2563Arg)
|
rs780964113
|
0.00003
|
|
NM_004369.4(COL6A3):c.774C>T (p.Phe258=)
|
rs766589204
|
0.00003
|
|
NM_004369.4(COL6A3):c.7768A>G (p.Ile2590Val)
|
rs372278071
|
0.00003
|
|
NM_004369.4(COL6A3):c.7870T>G (p.Leu2624Val)
|
rs777305410
|
0.00003
|
|
NM_004369.4(COL6A3):c.7877G>A (p.Ser2626Asn)
|
rs765014790
|
0.00003
|
|
NM_004369.4(COL6A3):c.8008G>A (p.Ala2670Thr)
|
rs398124135
|
0.00003
|
|
NM_004369.4(COL6A3):c.8168T>C (p.Ile2723Thr)
|
rs373108028
|
0.00003
|
|
NM_004369.4(COL6A3):c.8201G>A (p.Arg2734Gln)
|
rs115116398
|
0.00003
|
|
NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr)
|
rs763395740
|
0.00003
|
|
NM_004369.4(COL6A3):c.8377G>A (p.Val2793Ile)
|
rs569907876
|
0.00003
|
|
NM_004369.4(COL6A3):c.8464+20G>C
|
rs398124136
|
0.00003
|
|
NM_004369.4(COL6A3):c.8621C>T (p.Thr2874Met)
|
rs779335085
|
0.00003
|
|
NM_004369.4(COL6A3):c.8637G>C (p.Thr2879=)
|
rs1417532835
|
0.00003
|
|
NM_004369.4(COL6A3):c.8660C>T (p.Thr2887Ile)
|
rs765812583
|
0.00003
|
|
NM_004369.4(COL6A3):c.8744C>T (p.Ala2915Val)
|
rs751532649
|
0.00003
|
|
NM_004369.4(COL6A3):c.8794C>T (p.Pro2932Ser)
|
rs992204564
|
0.00003
|
|
NM_004369.4(COL6A3):c.8865C>T (p.Pro2955=)
|
rs199936838
|
0.00003
|
|
NM_004369.4(COL6A3):c.8970G>A (p.Lys2990=)
|
rs113721676
|
0.00003
|
|
NM_004369.4(COL6A3):c.91+16G>A
|
rs747662761
|
0.00003
|
|
NM_004369.4(COL6A3):c.936C>T (p.Leu312=)
|
rs377629176
|
0.00003
|
|
NM_004369.4(COL6A3):c.9486C>T (p.Cys3162=)
|
rs757091142
|
0.00003
|
|
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr)
|
rs202175607
|
0.00003
|
|
NM_004370.6(COL12A1):c.1256T>C (p.Met419Thr)
|
rs201085951
|
0.00003
|
|
NM_004370.6(COL12A1):c.1298G>A (p.Arg433His)
|
rs775010013
|
0.00003
|
|
NM_004370.6(COL12A1):c.1737C>T (p.Ala579=)
|
rs780442166
|
0.00003
|
|
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)
|
rs1235556906
|
0.00003
|
|
NM_004370.6(COL12A1):c.2028T>C (p.Thr676=)
|
rs1318149393
|
0.00003
|
|
NM_004370.6(COL12A1):c.2055T>C (p.Ser685=)
|
rs780620827
|
0.00003
|
|
NM_004370.6(COL12A1):c.211A>G (p.Thr71Ala)
|
rs775809424
|
0.00003
|
|
NM_004370.6(COL12A1):c.2141C>T (p.Ala714Val)
|
rs1202850966
|
0.00003
|
|
NM_004370.6(COL12A1):c.2165-8T>C
|
rs909913796
|
0.00003
|
|
NM_004370.6(COL12A1):c.2165T>A (p.Val722Glu)
|
rs199503279
|
0.00003
|
|
NM_004370.6(COL12A1):c.2261G>A (p.Arg754Gln)
|
rs377480187
|
0.00003
|
|
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala)
|
rs370684538
|
0.00003
|
|
NM_004370.6(COL12A1):c.2374G>A (p.Val792Ile)
|
rs375704787
|
0.00003
|
|
NM_004370.6(COL12A1):c.2519A>G (p.Lys840Arg)
|
rs1357325121
|
0.00003
|
|
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu)
|
rs201382636
|
0.00003
|
|
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys)
|
rs768127770
|
0.00003
|
|
NM_004370.6(COL12A1):c.3034A>G (p.Met1012Val)
|
rs1188543260
|
0.00003
|
|
NM_004370.6(COL12A1):c.3245C>G (p.Thr1082Arg)
|
rs762817385
|
0.00003
|
|
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys)
|
rs373637483
|
0.00003
|
|
NM_004370.6(COL12A1):c.3566-8C>A
|
rs201709757
|
0.00003
|
|
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile)
|
rs536615203
|
0.00003
|
|
NM_004370.6(COL12A1):c.3780G>C (p.Lys1260Asn)
|
rs767422633
|
0.00003
|
|
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser)
|
rs774035582
|
0.00003
|
|
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala)
|
rs377553583
|
0.00003
|
|
NM_004370.6(COL12A1):c.385G>A (p.Glu129Lys)
|
rs978290681
|
0.00003
|
|
NM_004370.6(COL12A1):c.4000+4C>G
|
rs375772555
|
0.00003
|
|
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His)
|
rs200125060
|
0.00003
|
|
NM_004370.6(COL12A1):c.4223C>T (p.Pro1408Leu)
|
rs773936793
|
0.00003
|
|
NM_004370.6(COL12A1):c.4312A>G (p.Ser1438Gly)
|
rs201651899
|
0.00003
|
|
NM_004370.6(COL12A1):c.4565G>A (p.Arg1522His)
|
rs751419788
|
0.00003
|
|
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met)
|
rs373216375
|
0.00003
|
|
NM_004370.6(COL12A1):c.4675G>A (p.Val1559Ile)
|
rs373826197
|
0.00003
|
|
NM_004370.6(COL12A1):c.4781G>A (p.Arg1594His)
|
rs373006852
|
0.00003
|
|
NM_004370.6(COL12A1):c.4918G>A (p.Glu1640Lys)
|
rs780206104
|
0.00003
|
|
NM_004370.6(COL12A1):c.492T>C (p.Ala164=)
|
rs748734386
|
0.00003
|
|
NM_004370.6(COL12A1):c.5381G>A (p.Gly1794Asp)
|
rs548889128
|
0.00003
|
|
NM_004370.6(COL12A1):c.5394+10T>A
|
rs890398079
|
0.00003
|
|
NM_004370.6(COL12A1):c.552C>T (p.Tyr184=)
|
rs372356221
|
0.00003
|
|
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val)
|
rs565471668
|
0.00003
|
|
NM_004370.6(COL12A1):c.5746G>A (p.Val1916Ile)
|
rs778672810
|
0.00003
|
|
NM_004370.6(COL12A1):c.5771G>A (p.Arg1924His)
|
rs751986784
|
0.00003
|
|
NM_004370.6(COL12A1):c.5793A>G (p.Thr1931=)
|
rs199632288
|
0.00003
|
|
NM_004370.6(COL12A1):c.5996T>G (p.Leu1999Arg)
|
rs774159573
|
0.00003
|
|
NM_004370.6(COL12A1):c.6141T>C (p.His2047=)
|
rs773648194
|
0.00003
|
|
NM_004370.6(COL12A1):c.6200T>C (p.Ile2067Thr)
|
rs755180015
|
0.00003
|
|
NM_004370.6(COL12A1):c.6332G>A (p.Gly2111Glu)
|
rs771019349
|
0.00003
|
|
NM_004370.6(COL12A1):c.6947-6T>C
|
rs200538799
|
0.00003
|
|
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu)
|
rs755159927
|
0.00003
|
|
NM_004370.6(COL12A1):c.7677G>A (p.Ala2559=)
|
rs373585140
|
0.00003
|
|
NM_004370.6(COL12A1):c.7698A>C (p.Ala2566=)
|
rs775579405
|
0.00003
|
|
NM_004370.6(COL12A1):c.7734G>A (p.Thr2578=)
|
rs368616942
|
0.00003
|
|
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys)
|
rs201337277
|
0.00003
|
|
NM_004370.6(COL12A1):c.8390A>G (p.Asn2797Ser)
|
rs766046177
|
0.00003
|
|
NM_004370.6(COL12A1):c.8578-4G>A
|
rs780000164
|
0.00003
|
|
NM_004370.6(COL12A1):c.8649A>C (p.Pro2883=)
|
rs900917198
|
0.00003
|
|
NM_004370.6(COL12A1):c.8655A>C (p.Pro2885=)
|
rs751804493
|
0.00003
|
|
NM_004370.6(COL12A1):c.8686-5A>T
|
rs749754621
|
0.00003
|
|
NM_004370.6(COL12A1):c.8799T>C (p.Asp2933=)
|
rs768543325
|
0.00003
|
|
NM_004370.6(COL12A1):c.9186C>T (p.Ser3062=)
|
rs375094592
|
0.00003
|
|
NM_006063.3(KLHL41):c.1081G>C (p.Asp361His)
|
rs150768955
|
0.00003
|
|
NM_006063.3(KLHL41):c.1448T>C (p.Ile483Thr)
|
rs978825115
|
0.00003
|
|
NM_006063.3(KLHL41):c.1454G>A (p.Arg485His)
|
rs760007708
|
0.00003
|
|
NM_006063.3(KLHL41):c.1562A>G (p.Lys521Arg)
|
rs778003504
|
0.00003
|
|
NM_006063.3(KLHL41):c.443C>T (p.Pro148Leu)
|
rs772160259
|
0.00003
|
|
NM_006063.3(KLHL41):c.535C>T (p.Leu179=)
|
rs779057492
|
0.00003
|
|
NM_006790.3(MYOT):c.1132C>G (p.Pro378Ala)
|
rs1489391510
|
0.00003
|
|
NM_006790.3(MYOT):c.1201G>T (p.Asp401Tyr)
|
rs372167756
|
0.00003
|
|
NM_006790.3(MYOT):c.1317C>T (p.Asp439=)
|
rs147891371
|
0.00003
|
|
NM_006790.3(MYOT):c.1398T>G (p.Leu466=)
|
rs150033934
|
0.00003
|
|
NM_006790.3(MYOT):c.17G>A (p.Arg6His)
|
rs387906882
|
0.00003
|
|
NM_006790.3(MYOT):c.182A>C (p.His61Pro)
|
rs372276337
|
0.00003
|
|
NM_006790.3(MYOT):c.449T>C (p.Ile150Thr)
|
rs1163332539
|
0.00003
|
|
NM_006790.3(MYOT):c.61T>C (p.Leu21=)
|
rs150786535
|
0.00003
|
|
NM_006790.3(MYOT):c.758T>C (p.Ile253Thr)
|
rs201113539
|
0.00003
|
|
NM_006790.3(MYOT):c.817-11T>C
|
rs377759571
|
0.00003
|
|
NM_006790.3(MYOT):c.951T>C (p.Asp317=)
|
rs753927065
|
0.00003
|
|
NM_007078.3(LDB3):c.1165G>A (p.Ala389Thr)
|
rs924634578
|
0.00003
|
|
NM_007078.3(LDB3):c.1232-10G>A
|
rs776418612
|
0.00003
|
|
NM_007078.3(LDB3):c.1386C>T (p.Thr462=)
|
rs764330273
|
0.00003
|
|
NM_007078.3(LDB3):c.1453G>T (p.Ala485Ser)
|
rs397517214
|
0.00003
|
|
NM_007078.3(LDB3):c.160G>A (p.Gly54Ser)
|
rs201786090
|
0.00003
|
|
NM_007078.3(LDB3):c.1640G>A (p.Arg547Gln)
|
rs201968826
|
0.00003
|
|
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)
|
rs372331627
|
0.00003
|
|
NM_007078.3(LDB3):c.1789T>A (p.Tyr597Asn)
|
rs727503131
|
0.00003
|
|
NM_007078.3(LDB3):c.1902C>T (p.Phe634=)
|
rs773904344
|
0.00003
|
|
NM_007078.3(LDB3):c.1962G>A (p.Glu654=)
|
rs201063130
|
0.00003
|
|
NM_007078.3(LDB3):c.2050G>A (p.Glu684Lys)
|
rs754552434
|
0.00003
|
|
NM_007078.3(LDB3):c.378G>A (p.Ala126=)
|
rs149872184
|
0.00003
|
|
NM_007078.3(LDB3):c.398C>T (p.Pro133Leu)
|
rs200239096
|
0.00003
|
|
NM_007078.3(LDB3):c.428G>A (p.Ser143Asn)
|
rs201773873
|
0.00003
|
|
NM_007078.3(LDB3):c.561G>A (p.Pro187=)
|
rs763643660
|
0.00003
|
|
NM_007078.3(LDB3):c.567G>A (p.Ser189=)
|
rs778777214
|
0.00003
|
|
NM_007078.3(LDB3):c.675C>T (p.Val225=)
|
rs749425278
|
0.00003
|
|
NM_007078.3(LDB3):c.724G>A (p.Ala242Thr)
|
rs759790522
|
0.00003
|
|
NM_007078.3(LDB3):c.897-10G>A
|
rs77304928
|
0.00003
|
|
NM_007078.3(LDB3):c.900C>A (p.Thr300=)
|
rs760071118
|
0.00003
|
|
NM_007078.3(LDB3):c.905T>C (p.Ile302Thr)
|
rs777489502
|
0.00003
|
|
NM_007078.3(LDB3):c.918G>A (p.Pro306=)
|
rs371729742
|
0.00003
|
|
NM_017534.6(MYH2):c.1266+5G>A
|
rs758217131
|
0.00003
|
|
NM_017534.6(MYH2):c.1333C>T (p.Arg445Cys)
|
rs752702044
|
0.00003
|
|
NM_017534.6(MYH2):c.2181-5A>T
|
rs199770682
|
0.00003
|
|
NM_017534.6(MYH2):c.2225T>C (p.Ile742Thr)
|
rs773415186
|
0.00003
|
|
NM_017534.6(MYH2):c.2303A>C (p.Lys768Thr)
|
rs1358118988
|
0.00003
|
|
NM_017534.6(MYH2):c.2378G>A (p.Arg793Gln)
|
rs578188627
|
0.00003
|
|
NM_017534.6(MYH2):c.2655G>A (p.Thr885=)
|
rs141764966
|
0.00003
|
|
NM_017534.6(MYH2):c.265G>A (p.Glu89Lys)
|
rs759350345
|
0.00003
|
|
NM_017534.6(MYH2):c.2704G>A (p.Glu902Lys)
|
rs781514305
|
0.00003
|
|
NM_017534.6(MYH2):c.2941-6T>C
|
rs751299754
|
0.00003
|
|
NM_017534.6(MYH2):c.3152G>A (p.Arg1051His)
|
rs1027280616
|
0.00003
|
|
NM_017534.6(MYH2):c.3440G>A (p.Arg1147Gln)
|
rs760262646
|
0.00003
|
|
NM_017534.6(MYH2):c.3489T>C (p.Thr1163=)
|
rs780067831
|
0.00003
|
|
NM_017534.6(MYH2):c.3542G>A (p.Arg1181His)
|
rs773196254
|
0.00003
|
|
NM_017534.6(MYH2):c.4185C>T (p.Ala1395=)
|
rs199982481
|
0.00003
|
|
NM_017534.6(MYH2):c.431G>A (p.Arg144Gln)
|
rs773318939
|
0.00003
|
|
NM_017534.6(MYH2):c.4376T>C (p.Leu1459Pro)
|
rs765135888
|
0.00003
|
|
NM_017534.6(MYH2):c.4406C>T (p.Thr1469Met)
|
rs760961929
|
0.00003
|
|
NM_017534.6(MYH2):c.4573G>A (p.Gly1525Arg)
|
rs910402127
|
0.00003
|
|
NM_017534.6(MYH2):c.4812G>A (p.Gln1604=)
|
rs781155016
|
0.00003
|
|
NM_017534.6(MYH2):c.4918C>T (p.Arg1640Cys)
|
rs375371672
|
0.00003
|
|
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter)
|
rs750232956
|
0.00003
|
|
NM_017534.6(MYH2):c.5405G>A (p.Arg1802His)
|
rs777282924
|
0.00003
|
|
NM_017534.6(MYH2):c.5476C>T (p.Arg1826Trp)
|
rs755265718
|
0.00003
|
|
NM_017534.6(MYH2):c.5641G>A (p.Val1881Met)
|
rs775106499
|
0.00003
|
|
NM_017534.6(MYH2):c.731C>T (p.Ser244Phe)
|
rs201044964
|
0.00003
|
|
NM_020451.3(SELENON):c.1010+1G>A
|
rs908682527
|
0.00003
|
|
NM_020451.3(SELENON):c.1077C>T (p.Ile359=)
|
rs370740923
|
0.00003
|
|
NM_020451.3(SELENON):c.1128C>T (p.Ser376=)
|
rs377230143
|
0.00003
|
|
NM_020451.3(SELENON):c.1158C>G (p.Ile386Met)
|
rs372243527
|
0.00003
|
|
NM_020451.3(SELENON):c.1249C>T (p.Arg417Cys)
|
rs769840172
|
0.00003
|
|
NM_020451.3(SELENON):c.1339G>A (p.Val447Met)
|
rs746942226
|
0.00003
|
|
NM_020451.3(SELENON):c.146G>A (p.Cys49Tyr)
|
rs1023254639
|
0.00003
|
|
NM_020451.3(SELENON):c.1535C>T (p.Ala512Val)
|
rs202167521
|
0.00003
|
|
NM_020451.3(SELENON):c.1592A>G (p.Asn531Ser)
|
rs546041571
|
0.00003
|
|
NM_020451.3(SELENON):c.1704G>A (p.Pro568=)
|
rs754350384
|
0.00003
|
|
NM_020451.3(SELENON):c.183+11G>A
|
rs1015099314
|
0.00003
|
|
NM_020451.3(SELENON):c.545G>A (p.Arg182His)
|
rs200224030
|
0.00003
|
|
NM_020451.3(SELENON):c.618C>T (p.Phe206=)
|
rs772257589
|
0.00003
|
|
NM_020451.3(SELENON):c.747+20G>A
|
rs373649740
|
0.00003
|
|
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys)
|
rs368074297
|
0.00003
|
|
NM_020451.3(SELENON):c.996C>T (p.Phe332=)
|
rs372461186
|
0.00003
|
|
NM_020451.3(SELENON):c.9G>C (p.Arg3=)
|
rs1057521978
|
0.00003
|
|
NM_032790.4(ORAI1):c.119C>T (p.Pro40Leu)
|
rs1555322519
|
0.00003
|
|
NM_032790.4(ORAI1):c.140C>T (p.Pro47Leu)
|
rs781855511
|
0.00003
|
|
NM_032790.4(ORAI1):c.556C>T (p.Leu186Phe)
|
rs782383265
|
0.00003
|
|
NM_032790.4(ORAI1):c.558C>T (p.Leu186=)
|
rs781982396
|
0.00003
|
|
NM_032790.4(ORAI1):c.759C>T (p.Phe253=)
|
rs539371248
|
0.00003
|
|
NM_032790.4(ORAI1):c.830C>T (p.Ala277Val)
|
rs543436848
|
0.00003
|
|
NM_032790.4(ORAI1):c.874C>A (p.His292Asn)
|
rs1189464768
|
0.00003
|
|
NM_133378.4(TTN):c.45878-4A>G
|
rs772324772
|
0.00003
|
|
NM_139343.3(BIN1):c.1003-16C>T
|
rs547659375
|
0.00003
|
|
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu)
|
rs794727107
|
0.00003
|
|
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu)
|
rs368616652
|
0.00003
|
|
NM_139343.3(BIN1):c.1197G>A (p.Pro399=)
|
rs370728071
|
0.00003
|
|
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser)
|
rs200124094
|
0.00003
|
|
NM_139343.3(BIN1):c.1328C>G (p.Ala443Gly)
|
rs758494519
|
0.00003
|
|
NM_139343.3(BIN1):c.1460C>G (p.Ser487Cys)
|
rs1342661066
|
0.00003
|
|
NM_139343.3(BIN1):c.1473T>C (p.Pro491=)
|
rs779756862
|
0.00003
|
|
NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu)
|
rs587783342
|
0.00003
|
|
NM_139343.3(BIN1):c.286G>A (p.Gly96Ser)
|
rs769724273
|
0.00003
|
|
NM_139343.3(BIN1):c.450C>T (p.Tyr150=)
|
rs550177667
|
0.00003
|
|
NM_139343.3(BIN1):c.520-6C>T
|
rs367953762
|
0.00003
|
|
NM_139343.3(BIN1):c.544G>A (p.Ala182Thr)
|
rs779607755
|
0.00003
|
|
NM_139343.3(BIN1):c.615C>T (p.Ala205=)
|
rs748308882
|
0.00003
|
|
NM_139343.3(BIN1):c.675G>A (p.Glu225=)
|
rs148179522
|
0.00003
|
|
NM_139343.3(BIN1):c.823G>A (p.Gly275Arg)
|
rs771506242
|
0.00003
|
|
NM_139343.3(BIN1):c.867G>A (p.Ala289=)
|
rs201839857
|
0.00003
|
|
NM_139343.3(BIN1):c.920C>G (p.Thr307Ser)
|
rs199551366
|
0.00003
|
|
NM_145064.3(STAC3):c.1052G>T (p.Arg351Leu)
|
rs762866281
|
0.00003
|
|
NM_145064.3(STAC3):c.216G>A (p.Glu72=)
|
rs143709026
|
0.00003
|
|
NM_145064.3(STAC3):c.222G>A (p.Glu74=)
|
rs752789035
|
0.00003
|
|
NM_145064.3(STAC3):c.895A>G (p.Asn299Asp)
|
rs754269738
|
0.00003
|
|
NM_152263.4(TPM3):c.706-8T>G
|
rs1273121877
|
0.00003
|
|
NM_152263.4(TPM3):c.831C>T (p.His277=)
|
rs781032589
|
0.00003
|
|
NM_152393.4(KLHL40):c.125G>A (p.Arg42His)
|
rs907216548
|
0.00003
|
|
NM_152393.4(KLHL40):c.1279C>T (p.Arg427Cys)
|
rs577804609
|
0.00003
|
|
NM_152393.4(KLHL40):c.1292C>T (p.Ser431Leu)
|
rs545767433
|
0.00003
|
|
NM_152393.4(KLHL40):c.1306G>A (p.Asp436Asn)
|
rs372145157
|
0.00003
|
|
NM_152393.4(KLHL40):c.1396G>T (p.Val466Leu)
|
rs773720799
|
0.00003
|
|
NM_152393.4(KLHL40):c.1755-15C>T
|
rs745306926
|
0.00003
|
|
NM_152393.4(KLHL40):c.1795G>C (p.Glu599Gln)
|
rs764539039
|
0.00003
|
|
NM_152393.4(KLHL40):c.468C>G (p.Ile156Met)
|
rs1378856635
|
0.00003
|
|
NM_152393.4(KLHL40):c.602G>A (p.Trp201Ter)
|
rs397509420
|
0.00003
|
|
NM_152393.4(KLHL40):c.642G>A (p.Gln214=)
|
rs529383743
|
0.00003
|
|
NM_152393.4(KLHL40):c.769G>A (p.Val257Met)
|
rs759025628
|
0.00003
|
|
NM_198271.5(LMOD3):c.111G>A (p.Ser37=)
|
rs756673570
|
0.00003
|
|
NM_198271.5(LMOD3):c.1130T>C (p.Phe377Ser)
|
rs373483102
|
0.00003
|
|
NM_198271.5(LMOD3):c.132T>C (p.Pro44=)
|
rs774850879
|
0.00003
|
|
NM_198271.5(LMOD3):c.1353A>G (p.Pro451=)
|
rs756048205
|
0.00003
|
|
NM_198271.5(LMOD3):c.1500G>A (p.Pro500=)
|
rs764693298
|
0.00003
|
|
NM_198271.5(LMOD3):c.1505C>G (p.Ala502Gly)
|
rs775938178
|
0.00003
|
|
NM_198271.5(LMOD3):c.1617A>G (p.Leu539=)
|
rs374084990
|
0.00003
|
|
NM_198271.5(LMOD3):c.1642G>A (p.Ala548Thr)
|
rs376653017
|
0.00003
|
|
NM_198271.5(LMOD3):c.292G>A (p.Glu98Lys)
|
rs1467437318
|
0.00003
|
|
NM_198271.5(LMOD3):c.406G>A (p.Gly136Ser)
|
rs755727319
|
0.00003
|
|
NM_198271.5(LMOD3):c.744T>A (p.Val248=)
|
rs1047754733
|
0.00003
|
|
NM_198271.5(LMOD3):c.778C>T (p.Leu260=)
|
rs760458494
|
0.00003
|
|
NM_198271.5(LMOD3):c.819C>T (p.Asp273=)
|
rs375767322
|
0.00003
|
|
NM_198271.5(LMOD3):c.838A>G (p.Lys280Glu)
|
rs934465837
|
0.00003
|
|
NM_198271.5(LMOD3):c.987C>A (p.Ala329=)
|
rs1367220865
|
0.00003
|
|
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser)
|
rs771168722
|
0.00003
|
|
NM_198859.4(PRICKLE2):c.1359G>A (p.Ser453=)
|
rs376231873
|
0.00003
|
|
NM_198859.4(PRICKLE2):c.1535G>A (p.Gly512Asp)
|
rs772691573
|
0.00003
|
|
NM_198859.4(PRICKLE2):c.1597A>G (p.Met533Val)
|
rs758585243
|
0.00003
|
|
NM_198859.4(PRICKLE2):c.1688G>A (p.Arg563His)
|
rs375448087
|
0.00003
|
|
NM_198859.4(PRICKLE2):c.1851G>A (p.Met617Ile)
|
rs771413626
|
0.00003
|
|
NM_198859.4(PRICKLE2):c.2142G>A (p.Arg714=)
|
rs1177384016
|
0.00003
|
|
NM_198859.4(PRICKLE2):c.2187G>C (p.Gln729His)
|
rs142077804
|
0.00003
|
|
NM_198859.4(PRICKLE2):c.2207T>G (p.Met736Arg)
|
rs758228643
|
0.00003
|
|
NM_198859.4(PRICKLE2):c.2479A>C (p.Arg827=)
|
rs777032629
|
0.00003
|
|
NM_198859.4(PRICKLE2):c.527A>G (p.Tyr176Cys)
|
rs188632189
|
0.00003
|
|
NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu)
|
rs1438034155
|
0.00003
|
|
NM_000036.3(AMPD1):c.1432A>G (p.Met478Val)
|
rs528215739
|
0.00002
|
|
NM_000036.3(AMPD1):c.144G>A (p.Pro48=)
|
rs145786786
|
0.00002
|
|
NM_000036.3(AMPD1):c.1517T>A (p.Ile506Asn)
|
rs746816406
|
0.00002
|
|
NM_000036.3(AMPD1):c.2086-11T>C
|
rs571218978
|
0.00002
|
|
NM_000036.3(AMPD1):c.216-8G>A
|
rs762655218
|
0.00002
|
|
NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys)
|
rs777802711
|
0.00002
|
|
NM_000036.3(AMPD1):c.296T>C (p.Ile99Thr)
|
rs765248906
|
0.00002
|
|
NM_000036.3(AMPD1):c.439C>T (p.Arg147Cys)
|
rs147035391
|
0.00002
|
|
NM_000036.3(AMPD1):c.538T>C (p.Phe180Leu)
|
rs777043982
|
0.00002
|
|
NM_000036.3(AMPD1):c.835G>A (p.Glu279Lys)
|
rs777934972
|
0.00002
|
|
NM_000036.3(AMPD1):c.844G>A (p.Glu282Lys)
|
rs748720444
|
0.00002
|
|
NM_000036.3(AMPD1):c.881T>G (p.Phe294Cys)
|
rs763848203
|
0.00002
|
|
NM_000036.3(AMPD1):c.906C>T (p.Thr302=)
|
rs1013897127
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=)
|
rs368329470
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu)
|
rs397515737
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys)
|
rs794729166
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His)
|
rs782196269
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)
|
rs781986219
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)
|
rs200405157
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val)
|
rs782240044
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val)
|
rs782401618
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
|
rs990648341
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile)
|
rs782173851
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp)
|
rs781893396
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys)
|
rs926124671
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly)
|
rs782746355
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=)
|
rs782716787
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=)
|
rs781792950
|
0.00002
|
|
NM_000182.5(HADHA):c.1089T>C (p.His363=)
|
rs755296795
|
0.00002
|
|
NM_000182.5(HADHA):c.1353C>T (p.Asp451=)
|
rs770306077
|
0.00002
|
|
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp)
|
rs772166712
|
0.00002
|
|
NM_000182.5(HADHA):c.1507G>A (p.Val503Met)
|
rs138386385
|
0.00002
|
|
NM_000182.5(HADHA):c.1596G>C (p.Gln532His)
|
rs1004898768
|
0.00002
|
|
NM_000182.5(HADHA):c.1656G>A (p.Ala552=)
|
rs541069396
|
0.00002
|
|
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)
|
rs137852771
|
0.00002
|
|
NM_000182.5(HADHA):c.1701C>T (p.Asp567=)
|
rs778014305
|
0.00002
|
|
NM_000182.5(HADHA):c.1794T>C (p.His598=)
|
rs149021400
|
0.00002
|
|
NM_000182.5(HADHA):c.183A>G (p.Val61=)
|
rs370149021
|
0.00002
|
|
NM_000182.5(HADHA):c.1889G>A (p.Arg630His)
|
rs150850348
|
0.00002
|
|
NM_000182.5(HADHA):c.1925G>T (p.Gly642Val)
|
rs766188621
|
0.00002
|
|
NM_000182.5(HADHA):c.199G>C (p.Glu67Gln)
|
rs781303622
|
0.00002
|
|
NM_000182.5(HADHA):c.2133G>A (p.Pro711=)
|
rs186499456
|
0.00002
|
|
NM_000182.5(HADHA):c.2146+10G>A
|
rs768516891
|
0.00002
|
|
NM_000182.5(HADHA):c.2147-10C>T
|
rs371667948
|
0.00002
|
|
NM_000182.5(HADHA):c.386A>G (p.Lys129Arg)
|
rs769625802
|
0.00002
|
|
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr)
|
rs146667859
|
0.00002
|
|
NM_000182.5(HADHA):c.676+2T>C
|
rs772683361
|
0.00002
|
|
NM_000182.5(HADHA):c.677-3T>C
|
rs376306806
|
0.00002
|
|
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu)
|
rs143919136
|
0.00002
|
|
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)
|
rs752317877
|
0.00002
|
|
NM_000182.5(HADHA):c.9C>T (p.Ala3=)
|
rs1323737552
|
0.00002
|
|
NM_000183.3(HADHB):c.1089A>G (p.Leu363=)
|
rs140869593
|
0.00002
|
|
NM_000183.3(HADHB):c.126G>A (p.Thr42=)
|
rs1475892789
|
0.00002
|
|
NM_000183.3(HADHB):c.134C>T (p.Thr45Met)
|
rs754537494
|
0.00002
|
|
NM_000183.3(HADHB):c.1389+8dup
|
rs1484394551
|
0.00002
|
|
NM_000183.3(HADHB):c.210-1G>T
|
rs200777054
|
0.00002
|
|
NM_000183.3(HADHB):c.210-9G>A
|
rs538575997
|
0.00002
|
|
NM_000183.3(HADHB):c.353A>T (p.Glu118Val)
|
rs761005966
|
0.00002
|
|
NM_000183.3(HADHB):c.362T>C (p.Leu121Pro)
|
rs773127211
|
0.00002
|
|
NM_000183.3(HADHB):c.574A>G (p.Met192Val)
|
rs772405727
|
0.00002
|
|
NM_000183.3(HADHB):c.589T>C (p.Ser197Pro)
|
rs142475516
|
0.00002
|
|
NM_000183.3(HADHB):c.713G>A (p.Arg238Gln)
|
rs369313023
|
0.00002
|
|
NM_000183.3(HADHB):c.822A>G (p.Thr274=)
|
rs760136055
|
0.00002
|
|
NM_000183.3(HADHB):c.844C>T (p.Arg282Cys)
|
rs374979465
|
0.00002
|
|
NM_000183.3(HADHB):c.965C>T (p.Ala322Val)
|
rs758786432
|
0.00002
|
|
NM_000183.3(HADHB):c.97C>T (p.Arg33Ter)
|
rs752264795
|
0.00002
|
|
NM_000252.3(MTM1):c.1077A>G (p.Gln359=)
|
rs1299457466
|
0.00002
|
|
NM_000252.3(MTM1):c.1188C>T (p.Phe396=)
|
rs370366538
|
0.00002
|
|
NM_000252.3(MTM1):c.1560A>G (p.Arg520=)
|
rs138946055
|
0.00002
|
|
NM_000252.3(MTM1):c.1645-8C>T
|
rs782348896
|
0.00002
|
|
NM_000252.3(MTM1):c.1692C>T (p.Arg564=)
|
rs1557415136
|
0.00002
|
|
NM_000252.3(MTM1):c.1702A>G (p.Ile568Val)
|
rs587783807
|
0.00002
|
|
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg)
|
rs1347335331
|
0.00002
|
|
NM_000252.3(MTM1):c.1758A>G (p.Pro586=)
|
rs1454805516
|
0.00002
|
|
NM_000252.3(MTM1):c.175A>G (p.Ile59Val)
|
rs782451760
|
0.00002
|
|
NM_000252.3(MTM1):c.206G>A (p.Arg69His)
|
rs782277980
|
0.00002
|
|
NM_000252.3(MTM1):c.233A>T (p.Asp78Val)
|
rs782215492
|
0.00002
|
|
NM_000252.3(MTM1):c.278T>C (p.Ile93Thr)
|
rs199821243
|
0.00002
|
|
NM_000252.3(MTM1):c.297G>A (p.Ala99=)
|
rs781784303
|
0.00002
|
|
NM_000252.3(MTM1):c.51G>A (p.Glu17=)
|
rs148455726
|
0.00002
|
|
NM_000252.3(MTM1):c.528+7T>C
|
rs782460237
|
0.00002
|
|
NM_000252.3(MTM1):c.741C>T (p.Val247=)
|
rs374360983
|
0.00002
|
|
NM_000252.3(MTM1):c.813T>C (p.Ile271=)
|
rs1224173755
|
0.00002
|
|
NM_001100.4(ACTA1):c.389A>G (p.Asn130Ser)
|
rs766934634
|
0.00002
|
|
NM_001100.4(ACTA1):c.808+6C>A
|
rs200342114
|
0.00002
|
|
NM_001100.4(ACTA1):c.809-16_809-15insG
|
rs746125735
|
0.00002
|
|
NM_001100.4(ACTA1):c.84_85insT (p.Pro29fs)
|
rs753923758
|
0.00002
|
|
NM_001100.4(ACTA1):c.882C>T (p.Asp294=)
|
rs746042348
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.101G>A (p.Gly34Asp)
|
rs544519051
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.1028_1032del (p.Gly343fs)
|
rs774779148
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.1185G>C (p.Thr395=)
|
rs747137052
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.11G>A (p.Gly4Asp)
|
rs1228459718
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.1218C>T (p.Val406=)
|
rs774247348
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.1226T>C (p.Met409Thr)
|
rs767005954
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.1337G>C (p.Gly446Ala)
|
rs976528181
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser)
|
rs999785767
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.375C>G (p.Ala125=)
|
rs540939027
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.375C>T (p.Ala125=)
|
rs540939027
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.412G>A (p.Ala138Thr)
|
rs1338140080
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.434C>G (p.Ala145Gly)
|
rs1205418680
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.451G>A (p.Ala151Thr)
|
rs1167697962
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.543C>G (p.Asp181Glu)
|
rs760224608
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.79G>A (p.Glu27Lys)
|
rs760809346
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.874C>T (p.Pro292Ser)
|
rs765686080
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.985G>C (p.Ala329Pro)
|
rs1158844505
|
0.00002
|
|
NM_001164507.2(NEB):c.21315A>G (p.Lys7105=)
|
rs577494262
|
0.00002
|
|
NM_001164507.2(NEB):c.21346G>A (p.Asp7116Asn)
|
rs372827767
|
0.00002
|
|
NM_001164507.2(NEB):c.21348T>A (p.Asp7116Glu)
|
rs199934793
|
0.00002
|
|
NM_001164508.2(NEB):c.10082C>T (p.Thr3361Met)
|
rs745706462
|
0.00002
|
|
NM_001164508.2(NEB):c.10171C>T (p.Leu3391=)
|
rs1447971037
|
0.00002
|
|
NM_001164508.2(NEB):c.10282T>C (p.Phe3428Leu)
|
rs766193154
|
0.00002
|
|
NM_001164508.2(NEB):c.10452+5G>A
|
rs370685957
|
0.00002
|
|
NM_001164508.2(NEB):c.10471A>G (p.Met3491Val)
|
rs761174573
|
0.00002
|
|
NM_001164508.2(NEB):c.10544G>A (p.Arg3515Gln)
|
rs748799656
|
0.00002
|
|
NM_001164508.2(NEB):c.10743C>T (p.Ile3581=)
|
rs745748427
|
0.00002
|
|
NM_001164508.2(NEB):c.10923G>A (p.Pro3641=)
|
rs563836738
|
0.00002
|
|
NM_001164508.2(NEB):c.10977T>C (p.Asp3659=)
|
rs767853017
|
0.00002
|
|
NM_001164508.2(NEB):c.11077-18T>C
|
rs1055787776
|
0.00002
|
|
NM_001164508.2(NEB):c.11091A>C (p.Glu3697Asp)
|
rs1470685965
|
0.00002
|
|
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu)
|
rs551261559
|
0.00002
|
|
NM_001164508.2(NEB):c.11225A>G (p.Tyr3742Cys)
|
rs752598891
|
0.00002
|
|
NM_001164508.2(NEB):c.11310C>T (p.Tyr3770=)
|
rs1285651436
|
0.00002
|
|
NM_001164508.2(NEB):c.11413A>G (p.Lys3805Glu)
|
rs972557338
|
0.00002
|
|
NM_001164508.2(NEB):c.11418G>A (p.Lys3806=)
|
rs755477956
|
0.00002
|
|
NM_001164508.2(NEB):c.11457G>A (p.Val3819=)
|
rs780152095
|
0.00002
|
|
NM_001164508.2(NEB):c.11517C>T (p.Tyr3839=)
|
rs748370445
|
0.00002
|
|
NM_001164508.2(NEB):c.11575C>T (p.Arg3859Trp)
|
rs562669490
|
0.00002
|
|
NM_001164508.2(NEB):c.11602-17C>G
|
rs1383240433
|
0.00002
|
|
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)
|
rs776569219
|
0.00002
|
|
NM_001164508.2(NEB):c.11709G>A (p.Arg3903=)
|
rs570142622
|
0.00002
|
|
NM_001164508.2(NEB):c.11716C>T (p.Arg3906Cys)
|
rs759419548
|
0.00002
|
|
NM_001164508.2(NEB):c.11754C>T (p.Thr3918=)
|
rs368230090
|
0.00002
|
|
NM_001164508.2(NEB):c.11806-4G>A
|
rs374477471
|
0.00002
|
|
NM_001164508.2(NEB):c.1213C>A (p.Pro405Thr)
|
rs1008850251
|
0.00002
|
|
NM_001164508.2(NEB):c.12143A>G (p.Lys4048Arg)
|
rs1284970605
|
0.00002
|
|
NM_001164508.2(NEB):c.12258G>C (p.Leu4086=)
|
rs371771414
|
0.00002
|
|
NM_001164508.2(NEB):c.12280G>C (p.Asp4094His)
|
rs748607410
|
0.00002
|
|
NM_001164508.2(NEB):c.12312C>T (p.Ala4104=)
|
rs1436769995
|
0.00002
|
|
NM_001164508.2(NEB):c.12330+4C>T
|
rs772068098
|
0.00002
|
|
NM_001164508.2(NEB):c.12331-5T>C
|
rs1171513278
|
0.00002
|
|
NM_001164508.2(NEB):c.12630A>G (p.Gln4210=)
|
rs755977726
|
0.00002
|
|
NM_001164508.2(NEB):c.12732A>G (p.Arg4244=)
|
rs1396568234
|
0.00002
|
|
NM_001164508.2(NEB):c.12976C>T (p.Arg4326Cys)
|
rs1270122330
|
0.00002
|
|
NM_001164508.2(NEB):c.12999G>C (p.Thr4333=)
|
rs1384738774
|
0.00002
|
|
NM_001164508.2(NEB):c.13018G>A (p.Asp4340Asn)
|
rs1462818722
|
0.00002
|
|
NM_001164508.2(NEB):c.13221G>A (p.Pro4407=)
|
rs1240952464
|
0.00002
|
|
NM_001164508.2(NEB):c.1504T>C (p.Phe502Leu)
|
rs759653954
|
0.00002
|
|
NM_001164508.2(NEB):c.1512A>T (p.Gln504His)
|
rs774485087
|
0.00002
|
|
NM_001164508.2(NEB):c.16735C>T (p.Arg5579Cys)
|
rs762876022
|
0.00002
|
|
NM_001164508.2(NEB):c.1675-7T>C
|
rs757361284
|
0.00002
|
|
NM_001164508.2(NEB):c.16827T>C (p.Pro5609=)
|
rs764056031
|
0.00002
|
|
NM_001164508.2(NEB):c.16828G>T (p.Val5610Leu)
|
rs759755890
|
0.00002
|
|
NM_001164508.2(NEB):c.16845C>T (p.Tyr5615=)
|
rs375434588
|
0.00002
|
|
NM_001164508.2(NEB):c.16995T>C (p.Asn5665=)
|
rs761988373
|
0.00002
|
|
NM_001164508.2(NEB):c.17161G>A (p.Val5721Met)
|
rs746737604
|
0.00002
|
|
NM_001164508.2(NEB):c.17185G>A (p.Asp5729Asn)
|
rs374867405
|
0.00002
|
|
NM_001164508.2(NEB):c.17200T>C (p.Trp5734Arg)
|
rs369065324
|
0.00002
|
|
NM_001164508.2(NEB):c.17274C>T (p.Ile5758=)
|
rs372754098
|
0.00002
|
|
NM_001164508.2(NEB):c.17369C>T (p.Thr5790Ile)
|
rs752014573
|
0.00002
|
|
NM_001164508.2(NEB):c.17379C>T (p.Pro5793=)
|
rs750950248
|
0.00002
|
|
NM_001164508.2(NEB):c.17380G>A (p.Asp5794Asn)
|
rs765593110
|
0.00002
|
|
NM_001164508.2(NEB):c.17388C>T (p.Asn5796=)
|
rs368315700
|
0.00002
|
|
NM_001164508.2(NEB):c.17389G>A (p.Asp5797Asn)
|
rs375143141
|
0.00002
|
|
NM_001164508.2(NEB):c.17391T>C (p.Asp5797=)
|
rs775083049
|
0.00002
|
|
NM_001164508.2(NEB):c.17401G>A (p.Ala5801Thr)
|
rs1204919597
|
0.00002
|
|
NM_001164508.2(NEB):c.17619C>A (p.Gly5873=)
|
rs767518298
|
0.00002
|
|
NM_001164508.2(NEB):c.17629G>A (p.Asp5877Asn)
|
rs771170217
|
0.00002
|
|
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr)
|
rs1267739726
|
0.00002
|
|
NM_001164508.2(NEB):c.18052C>T (p.Leu6018Phe)
|
rs1223624917
|
0.00002
|
|
NM_001164508.2(NEB):c.18063T>C (p.Asp6021=)
|
rs1445425739
|
0.00002
|
|
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys)
|
rs533393007
|
0.00002
|
|
NM_001164508.2(NEB):c.18157-20A>G
|
rs747415022
|
0.00002
|
|
NM_001164508.2(NEB):c.1818G>A (p.Gly606=)
|
rs560312070
|
0.00002
|
|
NM_001164508.2(NEB):c.18226G>C (p.Val6076Leu)
|
rs747222372
|
0.00002
|
|
NM_001164508.2(NEB):c.18255G>A (p.Met6085Ile)
|
rs553375465
|
0.00002
|
|
NM_001164508.2(NEB):c.1829G>A (p.Gly610Glu)
|
rs139125293
|
0.00002
|
|
NM_001164508.2(NEB):c.18366+9G>A
|
rs759834773
|
0.00002
|
|
NM_001164508.2(NEB):c.18411G>A (p.Thr6137=)
|
rs767659024
|
0.00002
|
|
NM_001164508.2(NEB):c.18519C>T (p.Thr6173=)
|
rs745448583
|
0.00002
|
|
NM_001164508.2(NEB):c.18567G>A (p.Leu6189=)
|
rs773819516
|
0.00002
|
|
NM_001164508.2(NEB):c.18622C>G (p.Leu6208Val)
|
rs374727099
|
0.00002
|
|
NM_001164508.2(NEB):c.18693+9_18693+10del
|
rs756671954
|
0.00002
|
|
NM_001164508.2(NEB):c.18694-7del
|
rs763587657
|
0.00002
|
|
NM_001164508.2(NEB):c.18720T>C (p.Asp6240=)
|
rs761648965
|
0.00002
|
|
NM_001164508.2(NEB):c.1872G>T (p.Leu624Phe)
|
rs775430225
|
0.00002
|
|
NM_001164508.2(NEB):c.18830C>T (p.Thr6277Met)
|
rs371689870
|
0.00002
|
|
NM_001164508.2(NEB):c.19121A>G (p.Tyr6374Cys)
|
rs1177490619
|
0.00002
|
|
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln)
|
rs375182306
|
0.00002
|
|
NM_001164508.2(NEB):c.19385C>T (p.Pro6462Leu)
|
rs369054525
|
0.00002
|
|
NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys)
|
rs765363585
|
0.00002
|
|
NM_001164508.2(NEB):c.19544G>A (p.Arg6515His)
|
rs757278862
|
0.00002
|
|
NM_001164508.2(NEB):c.1954A>G (p.Thr652Ala)
|
rs752227497
|
0.00002
|
|
NM_001164508.2(NEB):c.19596C>T (p.His6532=)
|
rs1182429085
|
0.00002
|
|
NM_001164508.2(NEB):c.19621A>C (p.Ser6541Arg)
|
rs779842159
|
0.00002
|
|
NM_001164508.2(NEB):c.19689T>C (p.Pro6563=)
|
rs1345707996
|
0.00002
|
|
NM_001164508.2(NEB):c.19704C>T (p.Ala6568=)
|
rs760335435
|
0.00002
|
|
NM_001164508.2(NEB):c.19861C>T (p.His6621Tyr)
|
rs1559832482
|
0.00002
|
|
NM_001164508.2(NEB):c.19913G>A (p.Arg6638Gln)
|
rs375307136
|
0.00002
|
|
NM_001164508.2(NEB):c.19926A>G (p.Ala6642=)
|
rs370185522
|
0.00002
|
|
NM_001164508.2(NEB):c.19978A>G (p.Thr6660Ala)
|
rs1027633106
|
0.00002
|
|
NM_001164508.2(NEB):c.20099T>C (p.Leu6700Pro)
|
rs560109089
|
0.00002
|
|
NM_001164508.2(NEB):c.20144A>G (p.Asn6715Ser)
|
rs536934629
|
0.00002
|
|
NM_001164508.2(NEB):c.20262+3G>A
|
rs763862179
|
0.00002
|
|
NM_001164508.2(NEB):c.20342G>A (p.Arg6781His)
|
rs752285938
|
0.00002
|
|
NM_001164508.2(NEB):c.20367+12_20367+13del
|
rs1438846790
|
0.00002
|
|
NM_001164508.2(NEB):c.20415C>T (p.Phe6805=)
|
rs760807907
|
0.00002
|
|
NM_001164508.2(NEB):c.20467-16T>G
|
rs750760976
|
0.00002
|
|
NM_001164508.2(NEB):c.20467-5T>A
|
rs762368980
|
0.00002
|
|
NM_001164508.2(NEB):c.20467-7T>G
|
rs1259953150
|
0.00002
|
|
NM_001164508.2(NEB):c.20610G>A (p.Lys6870=)
|
rs372199850
|
0.00002
|
|
NM_001164508.2(NEB):c.20655C>A (p.Ala6885=)
|
rs188280277
|
0.00002
|
|
NM_001164508.2(NEB):c.20683-9A>G
|
rs769188838
|
0.00002
|
|
NM_001164508.2(NEB):c.20728G>A (p.Ala6910Thr)
|
rs750152377
|
0.00002
|
|
NM_001164508.2(NEB):c.20902A>G (p.Lys6968Glu)
|
rs376580237
|
0.00002
|
|
NM_001164508.2(NEB):c.21208-11G>A
|
rs1057522156
|
0.00002
|
|
NM_001164508.2(NEB):c.21261C>T (p.Ala7087=)
|
rs374884826
|
0.00002
|
|
NM_001164508.2(NEB):c.21266C>G (p.Ser7089Cys)
|
rs774297352
|
0.00002
|
|
NM_001164508.2(NEB):c.21310G>A (p.Glu7104Lys)
|
rs754354488
|
0.00002
|
|
NM_001164508.2(NEB):c.21313-655G>A
|
rs888033278
|
0.00002
|
|
NM_001164508.2(NEB):c.21313-781T>C
|
rs1484679285
|
0.00002
|
|
NM_001164508.2(NEB):c.21313-7T>C
|
rs916066756
|
0.00002
|
|
NM_001164508.2(NEB):c.21393C>T (p.Leu7131=)
|
rs760537153
|
0.00002
|
|
NM_001164508.2(NEB):c.21401C>T (p.Ser7134Leu)
|
rs1199851750
|
0.00002
|
|
NM_001164508.2(NEB):c.21402G>A (p.Ser7134=)
|
rs1042514269
|
0.00002
|
|
NM_001164508.2(NEB):c.21486C>T (p.His7162=)
|
rs146637177
|
0.00002
|
|
NM_001164508.2(NEB):c.21689C>T (p.Ala7230Val)
|
rs368315910
|
0.00002
|
|
NM_001164508.2(NEB):c.21837C>T (p.Ser7279=)
|
rs759583403
|
0.00002
|
|
NM_001164508.2(NEB):c.21862G>C (p.Glu7288Gln)
|
rs768693028
|
0.00002
|
|
NM_001164508.2(NEB):c.21916G>A (p.Ala7306Thr)
|
rs1289511955
|
0.00002
|
|
NM_001164508.2(NEB):c.22041G>A (p.Leu7347=)
|
rs371317825
|
0.00002
|
|
NM_001164508.2(NEB):c.22159G>C (p.Asp7387His)
|
rs770527289
|
0.00002
|
|
NM_001164508.2(NEB):c.22273-8C>A
|
rs1271025149
|
0.00002
|
|
NM_001164508.2(NEB):c.22276G>A (p.Ala7426Thr)
|
rs765921628
|
0.00002
|
|
NM_001164508.2(NEB):c.22414G>A (p.Gly7472Ser)
|
rs376101302
|
0.00002
|
|
NM_001164508.2(NEB):c.22582G>A (p.Ala7528Thr)
|
rs765109120
|
0.00002
|
|
NM_001164508.2(NEB):c.22617A>T (p.Lys7539Asn)
|
rs755199802
|
0.00002
|
|
NM_001164508.2(NEB):c.22671G>C (p.Leu7557=)
|
rs775154161
|
0.00002
|
|
NM_001164508.2(NEB):c.22785A>G (p.Thr7595=)
|
rs764672920
|
0.00002
|
|
NM_001164508.2(NEB):c.228G>A (p.Val76=)
|
rs755926462
|
0.00002
|
|
NM_001164508.2(NEB):c.22923T>C (p.Asp7641=)
|
rs1288580994
|
0.00002
|
|
NM_001164508.2(NEB):c.22984C>T (p.His7662Tyr)
|
rs373852098
|
0.00002
|
|
NM_001164508.2(NEB):c.23198C>T (p.Pro7733Leu)
|
rs372387518
|
0.00002
|
|
NM_001164508.2(NEB):c.23326G>A (p.Val7776Ile)
|
rs779818222
|
0.00002
|
|
NM_001164508.2(NEB):c.23589G>A (p.Thr7863=)
|
rs762846826
|
0.00002
|
|
NM_001164508.2(NEB):c.23637C>G (p.Asp7879Glu)
|
rs374029795
|
0.00002
|
|
NM_001164508.2(NEB):c.23650-5T>G
|
rs773618223
|
0.00002
|
|
NM_001164508.2(NEB):c.23727G>A (p.Gln7909=)
|
rs757122461
|
0.00002
|
|
NM_001164508.2(NEB):c.23754A>G (p.Lys7918=)
|
rs750445824
|
0.00002
|
|
NM_001164508.2(NEB):c.2382C>T (p.Ile794=)
|
rs532547534
|
0.00002
|
|
NM_001164508.2(NEB):c.23835+14T>G
|
rs754114947
|
0.00002
|
|
NM_001164508.2(NEB):c.23928+4T>C
|
rs768465696
|
0.00002
|
|
NM_001164508.2(NEB):c.24021G>A (p.Ser8007=)
|
rs557688789
|
0.00002
|
|
NM_001164508.2(NEB):c.24040G>A (p.Val8014Ile)
|
rs182325166
|
0.00002
|
|
NM_001164508.2(NEB):c.24115-5T>C
|
rs1428535709
|
0.00002
|
|
NM_001164508.2(NEB):c.24137G>A (p.Gly8046Glu)
|
rs766357828
|
0.00002
|
|
NM_001164508.2(NEB):c.24208-10T>C
|
rs1061322
|
0.00002
|
|
NM_001164508.2(NEB):c.24358G>A (p.Glu8120Lys)
|
rs969631939
|
0.00002
|
|
NM_001164508.2(NEB):c.24402C>G (p.Tyr8134Ter)
|
rs758277406
|
0.00002
|
|
NM_001164508.2(NEB):c.24507G>A (p.Val8169=)
|
rs778385532
|
0.00002
|
|
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu)
|
rs751680308
|
0.00002
|
|
NM_001164508.2(NEB):c.24549A>G (p.Arg8183=)
|
rs758426581
|
0.00002
|
|
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His)
|
rs759962661
|
0.00002
|
|
NM_001164508.2(NEB):c.24645G>A (p.Val8215=)
|
rs769610035
|
0.00002
|
|
NM_001164508.2(NEB):c.24681C>T (p.Tyr8227=)
|
rs898626861
|
0.00002
|
|
NM_001164508.2(NEB):c.24742C>T (p.Arg8248Cys)
|
rs748561855
|
0.00002
|
|
NM_001164508.2(NEB):c.2490G>A (p.Leu830=)
|
rs1259136731
|
0.00002
|
|
NM_001164508.2(NEB):c.24967G>A (p.Asp8323Asn)
|
rs764260738
|
0.00002
|
|
NM_001164508.2(NEB):c.24970T>C (p.Phe8324Leu)
|
rs760635015
|
0.00002
|
|
NM_001164508.2(NEB):c.25028G>A (p.Arg8343Gln)
|
rs886054926
|
0.00002
|
|
NM_001164508.2(NEB):c.25171C>T (p.Arg8391Trp)
|
rs561904743
|
0.00002
|
|
NM_001164508.2(NEB):c.2521G>A (p.Asp841Asn)
|
rs377599060
|
0.00002
|
|
NM_001164508.2(NEB):c.25256T>C (p.Leu8419Pro)
|
rs370819880
|
0.00002
|
|
NM_001164508.2(NEB):c.25414C>T (p.Arg8472Cys)
|
rs542706227
|
0.00002
|
|
NM_001164508.2(NEB):c.2638C>T (p.Arg880Cys)
|
rs371027084
|
0.00002
|
|
NM_001164508.2(NEB):c.2641G>A (p.Glu881Lys)
|
rs200486767
|
0.00002
|
|
NM_001164508.2(NEB):c.2940T>C (p.Asn980=)
|
rs1472489170
|
0.00002
|
|
NM_001164508.2(NEB):c.2943+14G>A
|
rs756509531
|
0.00002
|
|
NM_001164508.2(NEB):c.3042+10A>C
|
rs370534835
|
0.00002
|
|
NM_001164508.2(NEB):c.3094C>T (p.Pro1032Ser)
|
rs544334101
|
0.00002
|
|
NM_001164508.2(NEB):c.3147+9G>A
|
rs751551042
|
0.00002
|
|
NM_001164508.2(NEB):c.3203C>T (p.Thr1068Ile)
|
rs769233880
|
0.00002
|
|
NM_001164508.2(NEB):c.3210G>A (p.Ala1070=)
|
rs201896003
|
0.00002
|
|
NM_001164508.2(NEB):c.322A>G (p.Thr108Ala)
|
rs544069233
|
0.00002
|
|
NM_001164508.2(NEB):c.3239G>A (p.Arg1080Lys)
|
rs1377050628
|
0.00002
|
|
NM_001164508.2(NEB):c.3245C>T (p.Ala1082Val)
|
rs752809792
|
0.00002
|
|
NM_001164508.2(NEB):c.3370C>T (p.Arg1124Trp)
|
rs758590520
|
0.00002
|
|
NM_001164508.2(NEB):c.3491C>A (p.Ser1164Tyr)
|
rs944276562
|
0.00002
|
|
NM_001164508.2(NEB):c.3497A>T (p.His1166Leu)
|
rs765273968
|
0.00002
|
|
NM_001164508.2(NEB):c.36+9T>A
|
rs754439228
|
0.00002
|
|
NM_001164508.2(NEB):c.3634G>A (p.Asp1212Asn)
|
rs779673816
|
0.00002
|
|
NM_001164508.2(NEB):c.3657C>T (p.Ala1219=)
|
rs766494707
|
0.00002
|
|
NM_001164508.2(NEB):c.3759G>A (p.Thr1253=)
|
rs763075598
|
0.00002
|
|
NM_001164508.2(NEB):c.4105G>A (p.Glu1369Lys)
|
rs779213215
|
0.00002
|
|
NM_001164508.2(NEB):c.4116G>A (p.Lys1372=)
|
rs202144520
|
0.00002
|
|
NM_001164508.2(NEB):c.4197C>T (p.Val1399=)
|
rs771328367
|
0.00002
|
|
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser)
|
rs565184120
|
0.00002
|
|
NM_001164508.2(NEB):c.4343G>C (p.Gly1448Ala)
|
rs756000690
|
0.00002
|
|
NM_001164508.2(NEB):c.4376A>T (p.Lys1459Met)
|
rs975412307
|
0.00002
|
|
NM_001164508.2(NEB):c.4380C>T (p.Val1460=)
|
rs762099703
|
0.00002
|
|
NM_001164508.2(NEB):c.4392C>T (p.Gly1464=)
|
rs771527086
|
0.00002
|
|
NM_001164508.2(NEB):c.4425C>T (p.His1475=)
|
rs371545317
|
0.00002
|
|
NM_001164508.2(NEB):c.4518G>A (p.Lys1506=)
|
rs1216257726
|
0.00002
|
|
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=)
|
rs748479655
|
0.00002
|
|
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys)
|
rs183333679
|
0.00002
|
|
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser)
|
rs756692621
|
0.00002
|
|
NM_001164508.2(NEB):c.4883C>A (p.Pro1628His)
|
rs771495234
|
0.00002
|
|
NM_001164508.2(NEB):c.4953G>A (p.Gln1651=)
|
rs1320404555
|
0.00002
|
|
NM_001164508.2(NEB):c.5125G>C (p.Glu1709Gln)
|
rs777705062
|
0.00002
|
|
NM_001164508.2(NEB):c.5157C>T (p.His1719=)
|
rs780224782
|
0.00002
|
|
NM_001164508.2(NEB):c.5177C>T (p.Thr1726Ile)
|
rs552140238
|
0.00002
|
|
NM_001164508.2(NEB):c.5205A>G (p.Ala1735=)
|
rs765962317
|
0.00002
|
|
NM_001164508.2(NEB):c.5325C>T (p.Asn1775=)
|
rs199809548
|
0.00002
|
|
NM_001164508.2(NEB):c.5697C>T (p.Thr1899=)
|
rs761341951
|
0.00002
|
|
NM_001164508.2(NEB):c.5704A>G (p.Met1902Val)
|
rs746809883
|
0.00002
|
|
NM_001164508.2(NEB):c.5868T>C (p.Ser1956=)
|
rs374717947
|
0.00002
|
|
NM_001164508.2(NEB):c.5882G>A (p.Arg1961His)
|
rs767185795
|
0.00002
|
|
NM_001164508.2(NEB):c.594C>T (p.Asn198=)
|
rs571497125
|
0.00002
|
|
NM_001164508.2(NEB):c.6145A>G (p.Ile2049Val)
|
rs755853362
|
0.00002
|
|
NM_001164508.2(NEB):c.6225G>T (p.Met2075Ile)
|
rs760968740
|
0.00002
|
|
NM_001164508.2(NEB):c.6390C>T (p.Ala2130=)
|
rs974601635
|
0.00002
|
|
NM_001164508.2(NEB):c.6392A>T (p.Asn2131Ile)
|
rs781202038
|
0.00002
|
|
NM_001164508.2(NEB):c.6474T>C (p.Asn2158=)
|
rs1191985703
|
0.00002
|
|
NM_001164508.2(NEB):c.6654T>C (p.Asp2218=)
|
rs771309223
|
0.00002
|
|
NM_001164508.2(NEB):c.6658A>G (p.Met2220Val)
|
rs200481156
|
0.00002
|
|
NM_001164508.2(NEB):c.6687A>G (p.Ala2229=)
|
rs747606446
|
0.00002
|
|
NM_001164508.2(NEB):c.6702+19G>A
|
rs758149842
|
0.00002
|
|
NM_001164508.2(NEB):c.674C>T (p.Pro225Leu)
|
rs770322824
|
0.00002
|
|
NM_001164508.2(NEB):c.6825A>T (p.Gly2275=)
|
rs761057549
|
0.00002
|
|
NM_001164508.2(NEB):c.6893C>T (p.Ala2298Val)
|
rs1280388530
|
0.00002
|
|
NM_001164508.2(NEB):c.6967C>T (p.Arg2323Trp)
|
rs1204576083
|
0.00002
|
|
NM_001164508.2(NEB):c.7233A>G (p.Leu2411=)
|
rs1023030953
|
0.00002
|
|
NM_001164508.2(NEB):c.7317G>A (p.Ser2439=)
|
rs199977733
|
0.00002
|
|
NM_001164508.2(NEB):c.734G>T (p.Gly245Val)
|
rs765569689
|
0.00002
|
|
NM_001164508.2(NEB):c.762G>A (p.Thr254=)
|
rs770784055
|
0.00002
|
|
NM_001164508.2(NEB):c.7860C>T (p.Ser2620=)
|
rs753267809
|
0.00002
|
|
NM_001164508.2(NEB):c.7902G>T (p.Leu2634=)
|
rs1213159316
|
0.00002
|
|
NM_001164508.2(NEB):c.8224G>C (p.Glu2742Gln)
|
rs772837483
|
0.00002
|
|
NM_001164508.2(NEB):c.8319G>T (p.Arg2773=)
|
rs746644593
|
0.00002
|
|
NM_001164508.2(NEB):c.8328C>T (p.Ala2776=)
|
rs373449008
|
0.00002
|
|
NM_001164508.2(NEB):c.8556G>A (p.Val2852=)
|
rs368155040
|
0.00002
|
|
NM_001164508.2(NEB):c.8589C>T (p.Ser2863=)
|
rs560965487
|
0.00002
|
|
NM_001164508.2(NEB):c.8594T>C (p.Val2865Ala)
|
rs754454398
|
0.00002
|
|
NM_001164508.2(NEB):c.8685+20A>C
|
rs764128200
|
0.00002
|
|
NM_001164508.2(NEB):c.8690T>C (p.Met2897Thr)
|
rs747466015
|
0.00002
|
|
NM_001164508.2(NEB):c.8823A>G (p.Lys2941=)
|
rs367619283
|
0.00002
|
|
NM_001164508.2(NEB):c.8860G>T (p.Ala2954Ser)
|
rs764538619
|
0.00002
|
|
NM_001164508.2(NEB):c.8968A>G (p.Arg2990Gly)
|
rs765940770
|
0.00002
|
|
NM_001164508.2(NEB):c.8988C>T (p.Tyr2996=)
|
rs1357442601
|
0.00002
|
|
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)
|
rs1057517977
|
0.00002
|
|
NM_001164508.2(NEB):c.9133C>T (p.Leu3045Phe)
|
rs533898172
|
0.00002
|
|
NM_001164508.2(NEB):c.9330T>C (p.Tyr3110=)
|
rs770174001
|
0.00002
|
|
NM_001164508.2(NEB):c.9480T>C (p.Asp3160=)
|
rs1475280445
|
0.00002
|
|
NM_001164508.2(NEB):c.9570T>C (p.Asp3190=)
|
rs768613880
|
0.00002
|
|
NM_001164508.2(NEB):c.9619-20C>T
|
rs778867943
|
0.00002
|
|
NM_001164508.2(NEB):c.9702G>A (p.Gln3234=)
|
rs1231131080
|
0.00002
|
|
NM_001164508.2(NEB):c.9795C>T (p.Ile3265=)
|
rs767234865
|
0.00002
|
|
NM_001164508.2(NEB):c.9853C>T (p.Arg3285Cys)
|
rs370572955
|
0.00002
|
|
NM_001164508.2(NEB):c.9875T>C (p.Ile3292Thr)
|
rs186634689
|
0.00002
|
|
NM_001164508.2(NEB):c.992C>G (p.Pro331Arg)
|
rs763822076
|
0.00002
|
|
NM_001164508.2(NEB):c.9939G>C (p.Gln3313His)
|
rs767908602
|
0.00002
|
|
NM_001164508.2(NEB):c.994G>A (p.Glu332Lys)
|
rs748518353
|
0.00002
|
|
NM_001164508.2(NEB):c.9972G>A (p.Lys3324=)
|
rs747709979
|
0.00002
|
|
NM_001256545.2(MEGF10):c.1380T>G (p.Asn460Lys)
|
rs748227745
|
0.00002
|
|
NM_001256545.2(MEGF10):c.1426+5G>T
|
rs148197499
|
0.00002
|
|
NM_001256545.2(MEGF10):c.1434C>T (p.His478=)
|
rs200050342
|
0.00002
|
|
NM_001256545.2(MEGF10):c.1544C>T (p.Thr515Met)
|
rs777758032
|
0.00002
|
|
NM_001256545.2(MEGF10):c.1597A>G (p.Thr533Ala)
|
rs954749214
|
0.00002
|
|
NM_001256545.2(MEGF10):c.1661C>T (p.Thr554Met)
|
rs553024715
|
0.00002
|
|
NM_001256545.2(MEGF10):c.1693+11A>C
|
rs1047991799
|
0.00002
|
|
NM_001256545.2(MEGF10):c.1880C>T (p.Thr627Ile)
|
rs778901566
|
0.00002
|
|
NM_001256545.2(MEGF10):c.218+5T>C
|
rs373947797
|
0.00002
|
|
NM_001256545.2(MEGF10):c.2218C>T (p.Leu740Phe)
|
rs772955622
|
0.00002
|
|
NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg)
|
rs387907072
|
0.00002
|
|
NM_001256545.2(MEGF10):c.2492-15C>T
|
rs370217452
|
0.00002
|
|
NM_001256545.2(MEGF10):c.2500A>T (p.Ile834Phe)
|
rs1300616206
|
0.00002
|
|
NM_001256545.2(MEGF10):c.2622A>G (p.Ala874=)
|
rs769104685
|
0.00002
|
|
NM_001256545.2(MEGF10):c.2751T>C (p.Gly917=)
|
rs368185850
|
0.00002
|
|
NM_001256545.2(MEGF10):c.2795C>T (p.Thr932Met)
|
rs775983100
|
0.00002
|
|
NM_001256545.2(MEGF10):c.2919G>A (p.Val973=)
|
rs770936974
|
0.00002
|
|
NM_001256545.2(MEGF10):c.2980+1G>T
|
rs1247305358
|
0.00002
|
|
NM_001256545.2(MEGF10):c.3179C>T (p.Pro1060Leu)
|
rs747619139
|
0.00002
|
|
NM_001256545.2(MEGF10):c.412+11A>T
|
rs751645074
|
0.00002
|
|
NM_001256545.2(MEGF10):c.413-7A>G
|
rs367785030
|
0.00002
|
|
NM_001256545.2(MEGF10):c.418G>A (p.Asp140Asn)
|
rs750650046
|
0.00002
|
|
NM_001256545.2(MEGF10):c.524G>A (p.Gly175Asp)
|
rs764487174
|
0.00002
|
|
NM_001256545.2(MEGF10):c.567C>T (p.Asn189=)
|
rs761893435
|
0.00002
|
|
NM_001256545.2(MEGF10):c.571T>C (p.Cys191Arg)
|
rs755877624
|
0.00002
|
|
NM_001256545.2(MEGF10):c.745G>A (p.Val249Ile)
|
rs370717384
|
0.00002
|
|
NM_001256545.2(MEGF10):c.814C>A (p.Arg272Ser)
|
rs748380473
|
0.00002
|
|
NM_001256545.2(MEGF10):c.917+6G>T
|
rs746095070
|
0.00002
|
|
NM_001256545.2(MEGF10):c.952G>A (p.Val318Ile)
|
rs959864264
|
0.00002
|
|
NM_001256850.1(TTN):c.54704-10C>T
|
rs775224600
|
0.00002
|
|
NM_001267550.2(TTN):c.100018C>A (p.Gln33340Lys)
|
rs558954116
|
0.00002
|
|
NM_001267550.2(TTN):c.100047A>C (p.Thr33349=)
|
rs727504698
|
0.00002
|
|
NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser)
|
rs55880786
|
0.00002
|
|
NM_001267550.2(TTN):c.100449A>C (p.Glu33483Asp)
|
rs762690616
|
0.00002
|
|
NM_001267550.2(TTN):c.100696A>G (p.Thr33566Ala)
|
rs878854282
|
0.00002
|
|
NM_001267550.2(TTN):c.100876G>A (p.Val33626Met)
|
rs1222398324
|
0.00002
|
|
NM_001267550.2(TTN):c.100972G>A (p.Gly33658Arg)
|
rs780484535
|
0.00002
|
|
NM_001267550.2(TTN):c.101027G>A (p.Gly33676Glu)
|
rs368894429
|
0.00002
|
|
NM_001267550.2(TTN):c.10115-17T>G
|
rs932815761
|
0.00002
|
|
NM_001267550.2(TTN):c.10115-5C>T
|
rs527370500
|
0.00002
|
|
NM_001267550.2(TTN):c.101237G>A (p.Arg33746His)
|
rs372584865
|
0.00002
|
|
NM_001267550.2(TTN):c.101282G>A (p.Arg33761Gln)
|
rs774790424
|
0.00002
|
|
NM_001267550.2(TTN):c.101327C>T (p.Pro33776Leu)
|
rs536357517
|
0.00002
|
|
NM_001267550.2(TTN):c.101345C>T (p.Thr33782Ile)
|
rs771566432
|
0.00002
|
|
NM_001267550.2(TTN):c.101536A>G (p.Met33846Val)
|
rs565546848
|
0.00002
|
|
NM_001267550.2(TTN):c.101599C>G (p.Leu33867Val)
|
rs76194811
|
0.00002
|
|
NM_001267550.2(TTN):c.101622C>T (p.Asn33874=)
|
rs780835388
|
0.00002
|
|
NM_001267550.2(TTN):c.10164G>T (p.Arg3388=)
|
rs542799064
|
0.00002
|
|
NM_001267550.2(TTN):c.101749G>A (p.Val33917Ile)
|
rs768379988
|
0.00002
|
|
NM_001267550.2(TTN):c.101862C>T (p.Thr33954=)
|
rs768467821
|
0.00002
|
|
NM_001267550.2(TTN):c.101941T>C (p.Tyr33981His)
|
rs781686886
|
0.00002
|
|
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=)
|
rs727504677
|
0.00002
|
|
NM_001267550.2(TTN):c.102030T>G (p.Ser34010Arg)
|
rs1296387134
|
0.00002
|
|
NM_001267550.2(TTN):c.10212C>T (p.Ala3404=)
|
rs150406319
|
0.00002
|
|
NM_001267550.2(TTN):c.102155G>A (p.Arg34052Gln)
|
rs369245991
|
0.00002
|
|
NM_001267550.2(TTN):c.102181C>T (p.Arg34061Cys)
|
rs879220772
|
0.00002
|
|
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)
|
rs375159973
|
0.00002
|
|
NM_001267550.2(TTN):c.102238G>C (p.Val34080Leu)
|
rs1467698015
|
0.00002
|
|
NM_001267550.2(TTN):c.102276T>C (p.Arg34092=)
|
rs369174451
|
0.00002
|
|
NM_001267550.2(TTN):c.102284A>C (p.His34095Pro)
|
rs1437743604
|
0.00002
|
|
NM_001267550.2(TTN):c.102308A>T (p.Asn34103Ile)
|
rs557630306
|
0.00002
|
|
NM_001267550.2(TTN):c.102363G>A (p.Lys34121=)
|
rs758224214
|
0.00002
|
|
NM_001267550.2(TTN):c.102433G>A (p.Ala34145Thr)
|
rs542891030
|
0.00002
|
|
NM_001267550.2(TTN):c.10244C>T (p.Thr3415Met)
|
rs761799688
|
0.00002
|
|
NM_001267550.2(TTN):c.102682G>C (p.Gly34228Arg)
|
rs555664963
|
0.00002
|
|
NM_001267550.2(TTN):c.102711C>T (p.Cys34237=)
|
rs568801205
|
0.00002
|
|
NM_001267550.2(TTN):c.102761T>C (p.Leu34254Pro)
|
rs556155561
|
0.00002
|
|
NM_001267550.2(TTN):c.102810T>C (p.Tyr34270=)
|
rs539544170
|
0.00002
|
|
NM_001267550.2(TTN):c.10304-16G>C
|
rs570642353
|
0.00002
|
|
NM_001267550.2(TTN):c.103074T>C (p.Asp34358=)
|
rs774488640
|
0.00002
|
|
NM_001267550.2(TTN):c.103143C>T (p.Cys34381=)
|
rs183058255
|
0.00002
|
|
NM_001267550.2(TTN):c.103293G>A (p.Thr34431=)
|
rs763171022
|
0.00002
|
|
NM_001267550.2(TTN):c.103302T>C (p.Tyr34434=)
|
rs773408387
|
0.00002
|
|
NM_001267550.2(TTN):c.103464T>G (p.Ser34488=)
|
rs960287076
|
0.00002
|
|
NM_001267550.2(TTN):c.103471G>A (p.Glu34491Lys)
|
rs556218739
|
0.00002
|
|
NM_001267550.2(TTN):c.103484T>C (p.Leu34495Pro)
|
rs373479287
|
0.00002
|
|
NM_001267550.2(TTN):c.103536G>A (p.Pro34512=)
|
rs772961147
|
0.00002
|
|
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln)
|
rs770742837
|
0.00002
|
|
NM_001267550.2(TTN):c.103939T>C (p.Tyr34647His)
|
rs561869617
|
0.00002
|
|
NM_001267550.2(TTN):c.104076A>G (p.Ser34692=)
|
rs749741308
|
0.00002
|
|
NM_001267550.2(TTN):c.104281C>T (p.Arg34761Trp)
|
rs879071113
|
0.00002
|
|
NM_001267550.2(TTN):c.104315A>G (p.Glu34772Gly)
|
rs766674127
|
0.00002
|
|
NM_001267550.2(TTN):c.104425G>C (p.Val34809Leu)
|
rs754384143
|
0.00002
|
|
NM_001267550.2(TTN):c.104518C>T (p.Arg34840Trp)
|
rs546085542
|
0.00002
|
|
NM_001267550.2(TTN):c.104648G>A (p.Arg34883His)
|
rs368063908
|
0.00002
|
|
NM_001267550.2(TTN):c.104654G>A (p.Arg34885Gln)
|
rs368870767
|
0.00002
|
|
NM_001267550.2(TTN):c.104691G>A (p.Ser34897=)
|
rs369619711
|
0.00002
|
|
NM_001267550.2(TTN):c.104822C>A (p.Ala34941Asp)
|
rs1445357252
|
0.00002
|
|
NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys)
|
rs727504918
|
0.00002
|
|
NM_001267550.2(TTN):c.104953A>G (p.Ser34985Gly)
|
rs765030518
|
0.00002
|
|
NM_001267550.2(TTN):c.104986G>T (p.Val34996Phe)
|
rs772718460
|
0.00002
|
|
NM_001267550.2(TTN):c.105212C>G (p.Ser35071Cys)
|
rs3813249
|
0.00002
|
|
NM_001267550.2(TTN):c.105227C>T (p.Ser35076Leu)
|
rs747940468
|
0.00002
|
|
NM_001267550.2(TTN):c.105241G>A (p.Glu35081Lys)
|
rs779952686
|
0.00002
|
|
NM_001267550.2(TTN):c.105261G>A (p.Thr35087=)
|
rs556741970
|
0.00002
|
|
NM_001267550.2(TTN):c.105423C>T (p.Tyr35141=)
|
rs534484592
|
0.00002
|
|
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr)
|
rs143499441
|
0.00002
|
|
NM_001267550.2(TTN):c.105916G>A (p.Val35306Met)
|
rs1434315858
|
0.00002
|
|
NM_001267550.2(TTN):c.106061A>G (p.Gln35354Arg)
|
rs546343124
|
0.00002
|
|
NM_001267550.2(TTN):c.106083T>C (p.Ile35361=)
|
rs1196945123
|
0.00002
|
|
NM_001267550.2(TTN):c.10611C>T (p.Tyr3537=)
|
rs1450670321
|
0.00002
|
|
NM_001267550.2(TTN):c.106152G>A (p.Glu35384=)
|
rs776327038
|
0.00002
|
|
NM_001267550.2(TTN):c.106286C>A (p.Thr35429Lys)
|
rs1241466221
|
0.00002
|
|
NM_001267550.2(TTN):c.106293T>C (p.Val35431=)
|
rs749108651
|
0.00002
|
|
NM_001267550.2(TTN):c.106422G>C (p.Gly35474=)
|
rs779310314
|
0.00002
|
|
NM_001267550.2(TTN):c.106736C>T (p.Ser35579Leu)
|
rs727504462
|
0.00002
|
|
NM_001267550.2(TTN):c.106911A>G (p.Lys35637=)
|
rs767045071
|
0.00002
|
|
NM_001267550.2(TTN):c.107104C>G (p.Pro35702Ala)
|
rs551126367
|
0.00002
|
|
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His)
|
rs760107623
|
0.00002
|
|
NM_001267550.2(TTN):c.107339G>A (p.Arg35780His)
|
rs770904787
|
0.00002
|
|
NM_001267550.2(TTN):c.107377+1G>A
|
rs112188483
|
0.00002
|
|
NM_001267550.2(TTN):c.107427C>T (p.Asp35809=)
|
rs752446817
|
0.00002
|
|
NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg)
|
rs776981475
|
0.00002
|
|
NM_001267550.2(TTN):c.107628del (p.Asn35876fs)
|
rs766624923
|
0.00002
|
|
NM_001267550.2(TTN):c.107680+19G>A
|
rs771282051
|
0.00002
|
|
NM_001267550.2(TTN):c.107773A>G (p.Thr35925Ala)
|
rs781497669
|
0.00002
|
|
NM_001267550.2(TTN):c.107869A>T (p.Ile35957Phe)
|
rs950902715
|
0.00002
|
|
NM_001267550.2(TTN):c.10825G>A (p.Glu3609Lys)
|
rs1016683077
|
0.00002
|
|
NM_001267550.2(TTN):c.10840G>T (p.Glu3614Ter)
|
rs540059730
|
0.00002
|
|
NM_001267550.2(TTN):c.108G>A (p.Glu36=)
|
rs752216002
|
0.00002
|
|
NM_001267550.2(TTN):c.10944T>C (p.Ser3648=)
|
rs776316691
|
0.00002
|
|
NM_001267550.2(TTN):c.11311+9A>G
|
rs1014777394
|
0.00002
|
|
NM_001267550.2(TTN):c.11439C>T (p.Ser3813=)
|
rs770399607
|
0.00002
|
|
NM_001267550.2(TTN):c.11862T>A (p.Pro3954=)
|
rs749519968
|
0.00002
|
|
NM_001267550.2(TTN):c.1197G>A (p.Ser399=)
|
rs573255254
|
0.00002
|
|
NM_001267550.2(TTN):c.1208G>C (p.Ser403Thr)
|
rs727505091
|
0.00002
|
|
NM_001267550.2(TTN):c.12208G>A (p.Glu4070Lys)
|
rs397517830
|
0.00002
|
|
NM_001267550.2(TTN):c.12324T>C (p.Pro4108=)
|
rs537284713
|
0.00002
|
|
NM_001267550.2(TTN):c.12594A>T (p.Thr4198=)
|
rs777609617
|
0.00002
|
|
NM_001267550.2(TTN):c.1314G>A (p.Val438=)
|
rs565472070
|
0.00002
|
|
NM_001267550.2(TTN):c.13282G>A (p.Glu4428Lys)
|
rs528766978
|
0.00002
|
|
NM_001267550.2(TTN):c.13320G>A (p.Met4440Ile)
|
rs768996215
|
0.00002
|
|
NM_001267550.2(TTN):c.1332C>T (p.Ser444=)
|
rs759520186
|
0.00002
|
|
NM_001267550.2(TTN):c.13641G>A (p.Leu4547=)
|
rs768023034
|
0.00002
|
|
NM_001267550.2(TTN):c.13782G>A (p.Gln4594=)
|
rs188071134
|
0.00002
|
|
NM_001267550.2(TTN):c.13989C>T (p.Ile4663=)
|
rs1361452637
|
0.00002
|
|
NM_001267550.2(TTN):c.13G>A (p.Ala5Thr)
|
rs552620474
|
0.00002
|
|
NM_001267550.2(TTN):c.14002A>G (p.Thr4668Ala)
|
rs758920941
|
0.00002
|
|
NM_001267550.2(TTN):c.14093-7T>C
|
rs1023151846
|
0.00002
|
|
NM_001267550.2(TTN):c.14136A>C (p.Ala4712=)
|
rs370115946
|
0.00002
|
|
NM_001267550.2(TTN):c.14235G>A (p.Lys4745=)
|
rs756868442
|
0.00002
|
|
NM_001267550.2(TTN):c.14256G>A (p.Lys4752=)
|
rs755888927
|
0.00002
|
|
NM_001267550.2(TTN):c.14296G>A (p.Asp4766Asn)
|
rs981499527
|
0.00002
|
|
NM_001267550.2(TTN):c.14502A>G (p.Ala4834=)
|
rs779926164
|
0.00002
|
|
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr)
|
rs752150323
|
0.00002
|
|
NM_001267550.2(TTN):c.14624C>G (p.Ala4875Gly)
|
rs369989679
|
0.00002
|
|
NM_001267550.2(TTN):c.14873A>G (p.Tyr4958Cys)
|
rs530572005
|
0.00002
|
|
NM_001267550.2(TTN):c.14935+10G>A
|
rs148215787
|
0.00002
|
|
NM_001267550.2(TTN):c.14936-4G>T
|
rs571164689
|
0.00002
|
|
NM_001267550.2(TTN):c.14949C>T (p.Phe4983=)
|
rs758324605
|
0.00002
|
|
NM_001267550.2(TTN):c.15125C>T (p.Thr5042Met)
|
rs1060500462
|
0.00002
|
|
NM_001267550.2(TTN):c.15217+19C>T
|
rs752582652
|
0.00002
|
|
NM_001267550.2(TTN):c.15459C>T (p.Val5153=)
|
rs762428326
|
0.00002
|
|
NM_001267550.2(TTN):c.15497-11T>G
|
rs749940464
|
0.00002
|
|
NM_001267550.2(TTN):c.15600A>G (p.Thr5200=)
|
rs369464051
|
0.00002
|
|
NM_001267550.2(TTN):c.15633C>T (p.Asp5211=)
|
rs534365478
|
0.00002
|
|
NM_001267550.2(TTN):c.15687T>C (p.Asp5229=)
|
rs748343761
|
0.00002
|
|
NM_001267550.2(TTN):c.15775+15A>C
|
rs776801864
|
0.00002
|
|
NM_001267550.2(TTN):c.15903G>A (p.Leu5301=)
|
rs1352430801
|
0.00002
|
|
NM_001267550.2(TTN):c.15940A>G (p.Asn5314Asp)
|
rs371044267
|
0.00002
|
|
NM_001267550.2(TTN):c.16028C>T (p.Ser5343Phe)
|
rs369132752
|
0.00002
|
|
NM_001267550.2(TTN):c.16136A>C (p.Lys5379Thr)
|
rs752346935
|
0.00002
|
|
NM_001267550.2(TTN):c.16185A>G (p.Lys5395=)
|
rs747055000
|
0.00002
|
|
NM_001267550.2(TTN):c.16557G>A (p.Thr5519=)
|
rs753480595
|
0.00002
|
|
NM_001267550.2(TTN):c.16621+1G>T
|
rs761965693
|
0.00002
|
|
NM_001267550.2(TTN):c.16868G>T (p.Gly5623Val)
|
rs768364912
|
0.00002
|
|
NM_001267550.2(TTN):c.16904-8T>A
|
rs774983607
|
0.00002
|
|
NM_001267550.2(TTN):c.16959T>C (p.Asp5653=)
|
rs770260995
|
0.00002
|
|
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=)
|
rs760724229
|
0.00002
|
|
NM_001267550.2(TTN):c.17442T>C (p.Ser5814=)
|
rs770532942
|
0.00002
|
|
NM_001267550.2(TTN):c.17565A>G (p.Lys5855=)
|
rs745763221
|
0.00002
|
|
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys)
|
rs753136638
|
0.00002
|
|
NM_001267550.2(TTN):c.17895C>T (p.Tyr5965=)
|
rs780642441
|
0.00002
|
|
NM_001267550.2(TTN):c.1801-10G>T
|
rs931963044
|
0.00002
|
|
NM_001267550.2(TTN):c.1801-4del
|
rs759286606
|
0.00002
|
|
NM_001267550.2(TTN):c.1801-5A>C
|
rs772349556
|
0.00002
|
|
NM_001267550.2(TTN):c.18084G>A (p.Arg6028=)
|
rs775372762
|
0.00002
|
|
NM_001267550.2(TTN):c.18087A>T (p.Val6029=)
|
rs748559391
|
0.00002
|
|
NM_001267550.2(TTN):c.18307+13C>T
|
rs201930482
|
0.00002
|
|
NM_001267550.2(TTN):c.18374T>C (p.Phe6125Ser)
|
rs375003845
|
0.00002
|
|
NM_001267550.2(TTN):c.1851A>C (p.Thr617=)
|
rs727504530
|
0.00002
|
|
NM_001267550.2(TTN):c.18549C>T (p.Asp6183=)
|
rs200549353
|
0.00002
|
|
NM_001267550.2(TTN):c.18589+5G>A
|
rs763752372
|
0.00002
|
|
NM_001267550.2(TTN):c.18609A>G (p.Arg6203=)
|
rs777227340
|
0.00002
|
|
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=)
|
rs201395913
|
0.00002
|
|
NM_001267550.2(TTN):c.18777C>A (p.Thr6259=)
|
rs750180579
|
0.00002
|
|
NM_001267550.2(TTN):c.18869-16T>A
|
rs369915523
|
0.00002
|
|
NM_001267550.2(TTN):c.18959C>A (p.Pro6320His)
|
rs886246785
|
0.00002
|
|
NM_001267550.2(TTN):c.19158A>G (p.Gln6386=)
|
rs727504206
|
0.00002
|
|
NM_001267550.2(TTN):c.19263C>T (p.Asp6421=)
|
rs552531581
|
0.00002
|
|
NM_001267550.2(TTN):c.1939-18T>C
|
rs1295688480
|
0.00002
|
|
NM_001267550.2(TTN):c.1965C>T (p.Ala655=)
|
rs760757049
|
0.00002
|
|
NM_001267550.2(TTN):c.19715-12_19715-11del
|
rs748695304
|
0.00002
|
|
NM_001267550.2(TTN):c.19855A>G (p.Lys6619Glu)
|
rs1060500450
|
0.00002
|
|
NM_001267550.2(TTN):c.19994-15T>G
|
rs556907769
|
0.00002
|
|
NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp)
|
rs146828735
|
0.00002
|
|
NM_001267550.2(TTN):c.2022A>C (p.Arg674Ser)
|
rs180694107
|
0.00002
|
|
NM_001267550.2(TTN):c.20484C>T (p.Ile6828=)
|
rs563320328
|
0.00002
|
|
NM_001267550.2(TTN):c.205G>A (p.Ala69Thr)
|
rs1370693255
|
0.00002
|
|
NM_001267550.2(TTN):c.20712A>C (p.Thr6904=)
|
rs377356011
|
0.00002
|
|
NM_001267550.2(TTN):c.2076+13G>A
|
rs778505099
|
0.00002
|
|
NM_001267550.2(TTN):c.20836+7A>G
|
rs923732569
|
0.00002
|
|
NM_001267550.2(TTN):c.21116-1G>A
|
rs771575556
|
0.00002
|
|
NM_001267550.2(TTN):c.21116-4A>G
|
rs375874660
|
0.00002
|
|
NM_001267550.2(TTN):c.2160T>G (p.Pro720=)
|
rs776860277
|
0.00002
|
|
NM_001267550.2(TTN):c.21612T>G (p.Ser7204Arg)
|
rs780624577
|
0.00002
|
|
NM_001267550.2(TTN):c.21615G>A (p.Gly7205=)
|
rs527850233
|
0.00002
|
|
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val)
|
rs761223583
|
0.00002
|
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
|
NM_001267550.2(TTN):c.21907G>A (p.Glu7303Lys)
|
rs774950387
|
0.00002
|
|
NM_001267550.2(TTN):c.21962-15G>A
|
rs369307143
|
0.00002
|
|
NM_001267550.2(TTN):c.21966G>A (p.Pro7322=)
|
rs773546767
|
0.00002
|
|
NM_001267550.2(TTN):c.21980C>T (p.Thr7327Met)
|
rs727504975
|
0.00002
|
|
NM_001267550.2(TTN):c.2205C>T (p.Tyr735=)
|
rs1005406948
|
0.00002
|
|
NM_001267550.2(TTN):c.22240+3G>A
|
rs768904155
|
0.00002
|
|
NM_001267550.2(TTN):c.22432A>G (p.Ile7478Val)
|
rs1191020503
|
0.00002
|
|
NM_001267550.2(TTN):c.22628C>T (p.Pro7543Leu)
|
rs560272834
|
0.00002
|
|
NM_001267550.2(TTN):c.22689C>G (p.Ile7563Met)
|
rs1060500529
|
0.00002
|
|
NM_001267550.2(TTN):c.22931G>A (p.Arg7644Gln)
|
rs766675017
|
0.00002
|
|
NM_001267550.2(TTN):c.2301A>G (p.Arg767=)
|
rs746831560
|
0.00002
|
|
NM_001267550.2(TTN):c.23028C>T (p.Ser7676=)
|
rs199907920
|
0.00002
|
|
NM_001267550.2(TTN):c.23076C>T (p.Cys7692=)
|
rs769505705
|
0.00002
|
|
NM_001267550.2(TTN):c.23098+11C>A
|
rs780157047
|
0.00002
|
|
NM_001267550.2(TTN):c.23307C>T (p.Val7769=)
|
rs185860746
|
0.00002
|
|
NM_001267550.2(TTN):c.23391C>T (p.Phe7797=)
|
rs754815317
|
0.00002
|
|
NM_001267550.2(TTN):c.23770A>C (p.Lys7924Gln)
|
rs770650362
|
0.00002
|
|
NM_001267550.2(TTN):c.24039G>A (p.Pro8013=)
|
rs768390615
|
0.00002
|
|
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met)
|
rs371496970
|
0.00002
|
|
NM_001267550.2(TTN):c.24115G>A (p.Val8039Ile)
|
rs759655046
|
0.00002
|
|
NM_001267550.2(TTN):c.24139T>C (p.Leu8047=)
|
rs398124442
|
0.00002
|
|
NM_001267550.2(TTN):c.24168G>A (p.Thr8056=)
|
rs563766812
|
0.00002
|
|
NM_001267550.2(TTN):c.24227-17C>T
|
rs369163954
|
0.00002
|
|
NM_001267550.2(TTN):c.24609C>T (p.Ser8203=)
|
rs397517509
|
0.00002
|
|
NM_001267550.2(TTN):c.24701C>T (p.Thr8234Ile)
|
rs369521909
|
0.00002
|
|
NM_001267550.2(TTN):c.24708G>A (p.Glu8236=)
|
rs544114775
|
0.00002
|
|
NM_001267550.2(TTN):c.25041T>C (p.Ser8347=)
|
rs397517512
|
0.00002
|
|
NM_001267550.2(TTN):c.25077A>G (p.Pro8359=)
|
rs1306440265
|
0.00002
|
|
NM_001267550.2(TTN):c.25173G>A (p.Val8391=)
|
rs912662531
|
0.00002
|
|
NM_001267550.2(TTN):c.25510A>C (p.Met8504Leu)
|
rs761929830
|
0.00002
|
|
NM_001267550.2(TTN):c.26169C>T (p.Ser8723=)
|
rs1304915212
|
0.00002
|
|
NM_001267550.2(TTN):c.26178C>T (p.Cys8726=)
|
rs1203865258
|
0.00002
|
|
NM_001267550.2(TTN):c.26200G>A (p.Ala8734Thr)
|
rs727503646
|
0.00002
|
|
NM_001267550.2(TTN):c.26370C>T (p.Asn8790=)
|
rs2077147894
|
0.00002
|
|
NM_001267550.2(TTN):c.26482+14T>C
|
rs748288198
|
0.00002
|
|
NM_001267550.2(TTN):c.26483-4C>T
|
rs762897454
|
0.00002
|
|
NM_001267550.2(TTN):c.26579G>A (p.Ser8860Asn)
|
rs1240256366
|
0.00002
|
|
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly)
|
rs536974988
|
0.00002
|
|
NM_001267550.2(TTN):c.26940T>A (p.Thr8980=)
|
rs1060503948
|
0.00002
|
|
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu)
|
rs781351100
|
0.00002
|
|
NM_001267550.2(TTN):c.27123C>T (p.Ile9041=)
|
rs890920556
|
0.00002
|
|
NM_001267550.2(TTN):c.2727C>G (p.Thr909=)
|
rs1325237826
|
0.00002
|
|
NM_001267550.2(TTN):c.27285T>C (p.Asn9095=)
|
rs372827810
|
0.00002
|
|
NM_001267550.2(TTN):c.27426G>A (p.Ser9142=)
|
rs368081453
|
0.00002
|
|
NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu)
|
rs72648995
|
0.00002
|
|
NM_001267550.2(TTN):c.27886+17T>C
|
rs376389312
|
0.00002
|
|
NM_001267550.2(TTN):c.27887-10G>C
|
rs995921623
|
0.00002
|
|
NM_001267550.2(TTN):c.27947T>G (p.Leu9316Arg)
|
rs78643968
|
0.00002
|
|
NM_001267550.2(TTN):c.27993C>T (p.Ser9331=)
|
rs775636126
|
0.00002
|
|
NM_001267550.2(TTN):c.28099C>T (p.Leu9367Phe)
|
rs748483786
|
0.00002
|
|
NM_001267550.2(TTN):c.28175-10C>T
|
rs748478445
|
0.00002
|
|
NM_001267550.2(TTN):c.28275G>A (p.Pro9425=)
|
rs1448968221
|
0.00002
|
|
NM_001267550.2(TTN):c.28560C>G (p.Ser9520=)
|
rs768247809
|
0.00002
|
|
NM_001267550.2(TTN):c.28594A>G (p.Ile9532Val)
|
rs770782767
|
0.00002
|
|
NM_001267550.2(TTN):c.2859T>C (p.Thr953=)
|
rs765848869
|
0.00002
|
|
NM_001267550.2(TTN):c.28744G>A (p.Val9582Ile)
|
rs537805395
|
0.00002
|
|
NM_001267550.2(TTN):c.28754-11T>C
|
rs146738622
|
0.00002
|
|
NM_001267550.2(TTN):c.29041+14A>G
|
rs770212539
|
0.00002
|
|
NM_001267550.2(TTN):c.29066C>G (p.Thr9689Ser)
|
rs777878480
|
0.00002
|
|
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)
|
rs746721983
|
0.00002
|
|
NM_001267550.2(TTN):c.29429T>C (p.Ile9810Thr)
|
rs781737736
|
0.00002
|
|
NM_001267550.2(TTN):c.296-5C>T
|
rs374923808
|
0.00002
|
|
NM_001267550.2(TTN):c.29937C>T (p.Ile9979=)
|
rs878892843
|
0.00002
|
|
NM_001267550.2(TTN):c.29962+1G>T
|
rs774961188
|
0.00002
|
|
NM_001267550.2(TTN):c.2996G>A (p.Arg999His)
|
rs371757623
|
0.00002
|
|
NM_001267550.2(TTN):c.30030C>T (p.Cys10010=)
|
rs372290430
|
0.00002
|
|
NM_001267550.2(TTN):c.3021G>A (p.Ala1007=)
|
rs147603843
|
0.00002
|
|
NM_001267550.2(TTN):c.30498C>T (p.Tyr10166=)
|
rs879007169
|
0.00002
|
|
NM_001267550.2(TTN):c.30570C>T (p.Thr10190=)
|
rs531598218
|
0.00002
|
|
NM_001267550.2(TTN):c.30588G>A (p.Val10196=)
|
rs727504524
|
0.00002
|
|
NM_001267550.2(TTN):c.3100+12C>T
|
rs372734752
|
0.00002
|
|
NM_001267550.2(TTN):c.31229C>T (p.Pro10410Leu)
|
rs781664961
|
0.00002
|
|
NM_001267550.2(TTN):c.31497G>A (p.Glu10499=)
|
rs780623097
|
0.00002
|
|
NM_001267550.2(TTN):c.31513+19T>C
|
rs375927041
|
0.00002
|
|
NM_001267550.2(TTN):c.31533A>G (p.Glu10511=)
|
rs757499228
|
0.00002
|
|
NM_001267550.2(TTN):c.31566T>A (p.Ile10522=)
|
rs200239159
|
0.00002
|
|
NM_001267550.2(TTN):c.31846+18G>A
|
rs528453275
|
0.00002
|
|
NM_001267550.2(TTN):c.32011+19C>T
|
rs754851582
|
0.00002
|
|
NM_001267550.2(TTN):c.32021T>C (p.Leu10674Pro)
|
rs762662455
|
0.00002
|
|
NM_001267550.2(TTN):c.32025T>C (p.Pro10675=)
|
rs369365087
|
0.00002
|
|
NM_001267550.2(TTN):c.32097T>C (p.Ala10699=)
|
rs756584941
|
0.00002
|
|
NM_001267550.2(TTN):c.32471-6C>T
|
rs763361422
|
0.00002
|
|
NM_001267550.2(TTN):c.32542C>T (p.Pro10848Ser)
|
rs368286625
|
0.00002
|
|
NM_001267550.2(TTN):c.32736G>A (p.Pro10912=)
|
rs368838709
|
0.00002
|
|
NM_001267550.2(TTN):c.32796A>C (p.Pro10932=)
|
rs1577373098
|
0.00002
|
|
NM_001267550.2(TTN):c.32808G>T (p.Val10936=)
|
rs794727109
|
0.00002
|
|
NM_001267550.2(TTN):c.32826del (p.Val10943fs)
|
rs1440823660
|
0.00002
|
|
NM_001267550.2(TTN):c.33052C>T (p.Arg11018Trp)
|
rs372118864
|
0.00002
|
|
NM_001267550.2(TTN):c.33126C>T (p.Val11042=)
|
rs72650036
|
0.00002
|
|
NM_001267550.2(TTN):c.33164C>T (p.Pro11055Leu)
|
rs193051231
|
0.00002
|
|
NM_001267550.2(TTN):c.33165G>A (p.Pro11055=)
|
rs756152512
|
0.00002
|
|
NM_001267550.2(TTN):c.33654A>G (p.Pro11218=)
|
rs761294793
|
0.00002
|
|
NM_001267550.2(TTN):c.33657G>A (p.Pro11219=)
|
rs754038093
|
0.00002
|
|
NM_001267550.2(TTN):c.3380+12G>T
|
rs775071824
|
0.00002
|
|
NM_001267550.2(TTN):c.34006C>T (p.Arg11336Cys)
|
rs763380355
|
0.00002
|
|
NM_001267550.2(TTN):c.34026T>C (p.Pro11342=)
|
rs775256061
|
0.00002
|
|
NM_001267550.2(TTN):c.34230A>G (p.Glu11410=)
|
rs762363574
|
0.00002
|
|
NM_001267550.2(TTN):c.34293G>A (p.Val11431=)
|
rs1232810229
|
0.00002
|
|
NM_001267550.2(TTN):c.342C>T (p.Thr114=)
|
rs758521732
|
0.00002
|
|
NM_001267550.2(TTN):c.34537+3A>G
|
rs1427570685
|
0.00002
|
|
NM_001267550.2(TTN):c.34787-10A>C
|
rs758317614
|
0.00002
|
|
NM_001267550.2(TTN):c.34787-5T>C
|
rs1488977812
|
0.00002
|
|
NM_001267550.2(TTN):c.34855+1G>A
|
rs377319699
|
0.00002
|
|
NM_001267550.2(TTN):c.34965C>T (p.Ala11655=)
|
rs996246602
|
0.00002
|
|
NM_001267550.2(TTN):c.35330T>C (p.Ile11777Thr)
|
rs1393138345
|
0.00002
|
|
NM_001267550.2(TTN):c.35352T>A (p.Arg11784=)
|
rs1273061335
|
0.00002
|
|
NM_001267550.2(TTN):c.35470+4T>C
|
rs1389073196
|
0.00002
|
|
NM_001267550.2(TTN):c.35577A>G (p.Glu11859=)
|
rs757426241
|
0.00002
|
|
NM_001267550.2(TTN):c.35797+16T>C
|
rs1407065940
|
0.00002
|
|
NM_001267550.2(TTN):c.35797+1G>T
|
rs917175304
|
0.00002
|
|
NM_001267550.2(TTN):c.35797G>C (p.Glu11933Gln)
|
rs769110483
|
0.00002
|
|
NM_001267550.2(TTN):c.36043+4C>T
|
rs370368656
|
0.00002
|
|
NM_001267550.2(TTN):c.36043+5G>A
|
rs561444783
|
0.00002
|
|
NM_001267550.2(TTN):c.36202+10G>T
|
rs765321861
|
0.00002
|
|
NM_001267550.2(TTN):c.36281-13A>T
|
rs751095834
|
0.00002
|
|
NM_001267550.2(TTN):c.36448G>T (p.Val12150Leu)
|
rs371317962
|
0.00002
|
|
NM_001267550.2(TTN):c.36499C>T (p.Pro12167Ser)
|
rs780323492
|
0.00002
|
|
NM_001267550.2(TTN):c.36520C>A (p.Pro12174Thr)
|
rs762482452
|
0.00002
|
|
NM_001267550.2(TTN):c.36532+13G>A
|
rs758624046
|
0.00002
|
|
NM_001267550.2(TTN):c.36861C>A (p.Ala12287=)
|
rs1191492128
|
0.00002
|
|
NM_001267550.2(TTN):c.36948C>T (p.Pro12316=)
|
rs1418267533
|
0.00002
|
|
NM_001267550.2(TTN):c.3708C>T (p.Val1236=)
|
rs774509972
|
0.00002
|
|
NM_001267550.2(TTN):c.3730-7T>C
|
rs769998916
|
0.00002
|
|
NM_001267550.2(TTN):c.37369+10C>A
|
rs1286420676
|
0.00002
|
|
NM_001267550.2(TTN):c.37369+7A>G
|
rs1191484892
|
0.00002
|
|
NM_001267550.2(TTN):c.37509T>A (p.Pro12503=)
|
rs1263039680
|
0.00002
|
|
NM_001267550.2(TTN):c.37543+1G>A
|
rs1374931889
|
0.00002
|
|
NM_001267550.2(TTN):c.37734C>T (p.Ala12578=)
|
rs1280095100
|
0.00002
|
|
NM_001267550.2(TTN):c.3777A>G (p.Glu1259=)
|
rs755728462
|
0.00002
|
|
NM_001267550.2(TTN):c.38275C>G (p.Pro12759Ala)
|
rs1162101042
|
0.00002
|
|
NM_001267550.2(TTN):c.38607A>G (p.Pro12869=)
|
rs1413566405
|
0.00002
|
|
NM_001267550.2(TTN):c.38781A>T (p.Pro12927=)
|
rs1331371841
|
0.00002
|
|
NM_001267550.2(TTN):c.38959+8T>G
|
rs769254204
|
0.00002
|
|
NM_001267550.2(TTN):c.38961A>G (p.Val12987=)
|
rs552745605
|
0.00002
|
|
NM_001267550.2(TTN):c.3900T>C (p.Tyr1300=)
|
rs545493849
|
0.00002
|
|
NM_001267550.2(TTN):c.39064G>A (p.Val13022Ile)
|
rs767090806
|
0.00002
|
|
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00002
|
|
NM_001267550.2(TTN):c.39099T>C (p.Pro13033=)
|
rs755793186
|
0.00002
|
|
NM_001267550.2(TTN):c.39115A>C (p.Thr13039Pro)
|
rs766921440
|
0.00002
|
|
NM_001267550.2(TTN):c.39127G>A (p.Val13043Met)
|
rs560962534
|
0.00002
|
|
NM_001267550.2(TTN):c.39212-20A>C
|
rs773593473
|
0.00002
|
|
NM_001267550.2(TTN):c.39469G>A (p.Glu13157Lys)
|
rs761974767
|
0.00002
|
|
NM_001267550.2(TTN):c.39504G>T (p.Val13168=)
|
rs397517558
|
0.00002
|
|
NM_001267550.2(TTN):c.3963+13C>T
|
rs772650637
|
0.00002
|
|
NM_001267550.2(TTN):c.39673C>T (p.Pro13225Ser)
|
rs202240398
|
0.00002
|
|
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=)
|
rs398124450
|
0.00002
|
|
NM_001267550.2(TTN):c.39802G>T (p.Val13268Phe)
|
rs759268958
|
0.00002
|
|
NM_001267550.2(TTN):c.39895G>T (p.Glu13299Ter)
|
rs758166967
|
0.00002
|
|
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His)
|
rs761402128
|
0.00002
|
|
NM_001267550.2(TTN):c.39973+16T>C
|
rs1203640038
|
0.00002
|
|
NM_001267550.2(TTN):c.40222+20T>C
|
rs1210415232
|
0.00002
|
|
NM_001267550.2(TTN):c.40329A>G (p.Pro13443=)
|
rs955735941
|
0.00002
|
|
NM_001267550.2(TTN):c.40335C>T (p.Leu13445=)
|
rs727504696
|
0.00002
|
|
NM_001267550.2(TTN):c.40559-4A>G
|
rs202087936
|
0.00002
|
|
NM_001267550.2(TTN):c.4072G>T (p.Asp1358Tyr)
|
rs373988162
|
0.00002
|
|
NM_001267550.2(TTN):c.40787-19A>G
|
rs749631373
|
0.00002
|
|
NM_001267550.2(TTN):c.4086C>T (p.Tyr1362=)
|
rs776328283
|
0.00002
|
|
NM_001267550.2(TTN):c.40877-18G>A
|
rs770295958
|
0.00002
|
|
NM_001267550.2(TTN):c.40989T>C (p.Ser13663=)
|
rs369178648
|
0.00002
|
|
NM_001267550.2(TTN):c.41427C>T (p.Asp13809=)
|
rs776002330
|
0.00002
|
|
NM_001267550.2(TTN):c.41493T>C (p.Ile13831=)
|
rs1392762218
|
0.00002
|
|
NM_001267550.2(TTN):c.41885-18C>T
|
rs760942111
|
0.00002
|
|
NM_001267550.2(TTN):c.4209-9G>T
|
rs1356088079
|
0.00002
|
|
NM_001267550.2(TTN):c.42157G>A (p.Glu14053Lys)
|
rs759050071
|
0.00002
|
|
NM_001267550.2(TTN):c.42564C>T (p.Leu14188=)
|
rs767538049
|
0.00002
|
|
NM_001267550.2(TTN):c.42687C>T (p.Ala14229=)
|
rs775889693
|
0.00002
|
|
NM_001267550.2(TTN):c.4275A>G (p.Ala1425=)
|
rs749859784
|
0.00002
|
|
NM_001267550.2(TTN):c.427G>A (p.Glu143Lys)
|
rs754182768
|
0.00002
|
|
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=)
|
rs148528251
|
0.00002
|
|
NM_001267550.2(TTN):c.43056G>A (p.Lys14352=)
|
rs780283171
|
0.00002
|
|
NM_001267550.2(TTN):c.43068G>A (p.Gln14356=)
|
rs758915068
|
0.00002
|
|
NM_001267550.2(TTN):c.43120A>G (p.Ile14374Val)
|
rs754227553
|
0.00002
|
|
NM_001267550.2(TTN):c.4337C>A (p.Thr1446Lys)
|
rs879232192
|
0.00002
|
|
NM_001267550.2(TTN):c.43480+7A>G
|
rs775993390
|
0.00002
|
|
NM_001267550.2(TTN):c.4362A>G (p.Leu1454=)
|
rs794727406
|
0.00002
|
|
NM_001267550.2(TTN):c.43653T>C (p.His14551=)
|
rs768244114
|
0.00002
|
|
NM_001267550.2(TTN):c.43656G>A (p.Ser14552=)
|
rs376851369
|
0.00002
|
|
NM_001267550.2(TTN):c.43691C>G (p.Ser14564Cys)
|
rs377015571
|
0.00002
|
|
NM_001267550.2(TTN):c.44157T>C (p.Asp14719=)
|
rs760908766
|
0.00002
|
|
NM_001267550.2(TTN):c.44222C>T (p.Thr14741Met)
|
rs778576436
|
0.00002
|
|
NM_001267550.2(TTN):c.44232G>A (p.Val14744=)
|
rs1179961916
|
0.00002
|
|
NM_001267550.2(TTN):c.44304G>A (p.Arg14768=)
|
rs376076719
|
0.00002
|
|
NM_001267550.2(TTN):c.44425-13T>A
|
rs565739809
|
0.00002
|
|
NM_001267550.2(TTN):c.44472T>C (p.Asp14824=)
|
rs377441854
|
0.00002
|
|
NM_001267550.2(TTN):c.44530G>A (p.Ala14844Thr)
|
rs772053966
|
0.00002
|
|
NM_001267550.2(TTN):c.44816-9C>A
|
rs760060837
|
0.00002
|
|
NM_001267550.2(TTN):c.45498C>T (p.Asp15166=)
|
rs752554634
|
0.00002
|
|
NM_001267550.2(TTN):c.45725G>A (p.Arg15242Lys)
|
rs140795503
|
0.00002
|
|
NM_001267550.2(TTN):c.46047C>T (p.Tyr15349=)
|
rs762831355
|
0.00002
|
|
NM_001267550.2(TTN):c.46580T>A (p.Met15527Lys)
|
rs77496539
|
0.00002
|
|
NM_001267550.2(TTN):c.46697-12C>T
|
rs727504699
|
0.00002
|
|
NM_001267550.2(TTN):c.46983A>G (p.Val15661=)
|
rs766369811
|
0.00002
|
|
NM_001267550.2(TTN):c.47292T>C (p.Asn15764=)
|
rs763477743
|
0.00002
|
|
NM_001267550.2(TTN):c.47676A>G (p.Leu15892=)
|
rs761412068
|
0.00002
|
|
NM_001267550.2(TTN):c.47712T>C (p.Asp15904=)
|
rs1397706325
|
0.00002
|
|
NM_001267550.2(TTN):c.47766C>T (p.Thr15922=)
|
rs757006832
|
0.00002
|
|
NM_001267550.2(TTN):c.47938A>G (p.Ile15980Val)
|
rs780634456
|
0.00002
|
|
NM_001267550.2(TTN):c.48079C>T (p.Arg16027Cys)
|
rs765032242
|
0.00002
|
|
NM_001267550.2(TTN):c.48102A>G (p.Thr16034=)
|
rs775753109
|
0.00002
|
|
NM_001267550.2(TTN):c.48210C>T (p.Asp16070=)
|
rs1004375786
|
0.00002
|
|
NM_001267550.2(TTN):c.48213A>C (p.Ser16071=)
|
rs763351197
|
0.00002
|
|
NM_001267550.2(TTN):c.48312+3G>T
|
rs368650224
|
0.00002
|
|
NM_001267550.2(TTN):c.48432T>C (p.Asp16144=)
|
rs776643336
|
0.00002
|
|
NM_001267550.2(TTN):c.48591T>C (p.Arg16197=)
|
rs755584586
|
0.00002
|
|
NM_001267550.2(TTN):c.48654T>A (p.Gly16218=)
|
rs1258062795
|
0.00002
|
|
NM_001267550.2(TTN):c.48684C>T (p.Arg16228=)
|
rs529418633
|
0.00002
|
|
NM_001267550.2(TTN):c.48983C>T (p.Thr16328Ile)
|
rs770839243
|
0.00002
|
|
NM_001267550.2(TTN):c.49041C>T (p.Asn16347=)
|
rs369981635
|
0.00002
|
|
NM_001267550.2(TTN):c.49461T>A (p.Val16487=)
|
rs377080500
|
0.00002
|
|
NM_001267550.2(TTN):c.49649-14T>G
|
rs531475231
|
0.00002
|
|
NM_001267550.2(TTN):c.50084G>A (p.Arg16695Gln)
|
rs794729451
|
0.00002
|
|
NM_001267550.2(TTN):c.50151G>C (p.Glu16717Asp)
|
rs369623681
|
0.00002
|
|
NM_001267550.2(TTN):c.50484T>C (p.Ala16828=)
|
rs376278734
|
0.00002
|
|
NM_001267550.2(TTN):c.50648C>A (p.Pro16883His)
|
rs758756600
|
0.00002
|
|
NM_001267550.2(TTN):c.51337C>T (p.Pro17113Ser)
|
rs768641489
|
0.00002
|
|
NM_001267550.2(TTN):c.51378G>A (p.Lys17126=)
|
rs560889721
|
0.00002
|
|
NM_001267550.2(TTN):c.51681C>T (p.Ala17227=)
|
rs367779216
|
0.00002
|
|
NM_001267550.2(TTN):c.52010G>A (p.Arg17337Gln)
|
rs775700218
|
0.00002
|
|
NM_001267550.2(TTN):c.52373T>C (p.Val17458Ala)
|
rs760430370
|
0.00002
|
|
NM_001267550.2(TTN):c.52406-2A>C
|
rs753798236
|
0.00002
|
|
NM_001267550.2(TTN):c.52449C>T (p.Thr17483=)
|
rs374894182
|
0.00002
|
|
NM_001267550.2(TTN):c.52557C>T (p.Val17519=)
|
rs397517610
|
0.00002
|
|
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His)
|
rs536494011
|
0.00002
|
|
NM_001267550.2(TTN):c.53180C>G (p.Ser17727Cys)
|
rs369262757
|
0.00002
|
|
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser)
|
rs749312983
|
0.00002
|
|
NM_001267550.2(TTN):c.53592A>G (p.Thr17864=)
|
rs397517613
|
0.00002
|
|
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)
|
rs727503693
|
0.00002
|
|
NM_001267550.2(TTN):c.53769G>A (p.Leu17923=)
|
rs1439566303
|
0.00002
|
|
NM_001267550.2(TTN):c.53882-11T>C
|
rs533844520
|
0.00002
|
|
NM_001267550.2(TTN):c.53904T>C (p.Arg17968=)
|
rs568053342
|
0.00002
|
|
NM_001267550.2(TTN):c.54142T>C (p.Ser18048Pro)
|
rs878999356
|
0.00002
|
|
NM_001267550.2(TTN):c.54201C>T (p.Ser18067=)
|
rs397517618
|
0.00002
|
|
NM_001267550.2(TTN):c.54314G>A (p.Arg18105His)
|
rs760383112
|
0.00002
|
|
NM_001267550.2(TTN):c.54578A>G (p.Asn18193Ser)
|
rs777505893
|
0.00002
|
|
NM_001267550.2(TTN):c.55058A>G (p.Asn18353Ser)
|
rs747601378
|
0.00002
|
|
NM_001267550.2(TTN):c.55278T>C (p.Val18426=)
|
rs368013796
|
0.00002
|
|
NM_001267550.2(TTN):c.55303-4A>G
|
rs1191310144
|
0.00002
|
|
NM_001267550.2(TTN):c.55308G>A (p.Glu18436=)
|
rs768579637
|
0.00002
|
|
NM_001267550.2(TTN):c.55405A>C (p.Thr18469Pro)
|
rs1044328956
|
0.00002
|
|
NM_001267550.2(TTN):c.5559T>G (p.Leu1853=)
|
rs1397358651
|
0.00002
|
|
NM_001267550.2(TTN):c.55808C>T (p.Pro18603Leu)
|
rs531760043
|
0.00002
|
|
NM_001267550.2(TTN):c.5583C>T (p.Arg1861=)
|
rs368972275
|
0.00002
|
|
NM_001267550.2(TTN):c.55884A>G (p.Lys18628=)
|
rs776653880
|
0.00002
|
|
NM_001267550.2(TTN):c.56051G>A (p.Cys18684Tyr)
|
rs1025426023
|
0.00002
|
|
NM_001267550.2(TTN):c.56178T>A (p.Pro18726=)
|
rs767060880
|
0.00002
|
|
NM_001267550.2(TTN):c.56314A>G (p.Thr18772Ala)
|
rs964263107
|
0.00002
|
|
NM_001267550.2(TTN):c.56347+8C>T
|
rs751081259
|
0.00002
|
|
NM_001267550.2(TTN):c.56451T>C (p.Ile18817=)
|
rs773632666
|
0.00002
|
|
NM_001267550.2(TTN):c.56557C>T (p.His18853Tyr)
|
rs397517623
|
0.00002
|
|
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
|
rs745376275
|
0.00002
|
|
NM_001267550.2(TTN):c.5712A>C (p.Ser1904=)
|
rs1011696809
|
0.00002
|
|
NM_001267550.2(TTN):c.57369C>T (p.Thr19123=)
|
rs199742163
|
0.00002
|
|
NM_001267550.2(TTN):c.57438A>G (p.Ser19146=)
|
rs200636917
|
0.00002
|
|
NM_001267550.2(TTN):c.574C>T (p.Leu192=)
|
rs767983460
|
0.00002
|
|
NM_001267550.2(TTN):c.57717C>T (p.Thr19239=)
|
rs376023700
|
0.00002
|
|
NM_001267550.2(TTN):c.57816A>G (p.Thr19272=)
|
rs928567222
|
0.00002
|
|
NM_001267550.2(TTN):c.58137C>T (p.Cys19379=)
|
rs376310289
|
0.00002
|
|
NM_001267550.2(TTN):c.58150+10T>C
|
rs397517635
|
0.00002
|
|
NM_001267550.2(TTN):c.58161G>A (p.Thr19387=)
|
rs758252986
|
0.00002
|
|
NM_001267550.2(TTN):c.58284G>A (p.Leu19428=)
|
rs1458134212
|
0.00002
|
|
NM_001267550.2(TTN):c.58293T>C (p.Asp19431=)
|
rs878977261
|
0.00002
|
|
NM_001267550.2(TTN):c.58342A>G (p.Lys19448Glu)
|
rs900082928
|
0.00002
|
|
NM_001267550.2(TTN):c.58395A>G (p.Thr19465=)
|
rs375134177
|
0.00002
|
|
NM_001267550.2(TTN):c.58428T>C (p.Val19476=)
|
rs767067804
|
0.00002
|
|
NM_001267550.2(TTN):c.58676T>A (p.Leu19559Gln)
|
rs76604657
|
0.00002
|
|
NM_001267550.2(TTN):c.58733-9T>C
|
rs537433393
|
0.00002
|
|
NM_001267550.2(TTN):c.58876G>A (p.Ala19626Thr)
|
rs371278320
|
0.00002
|
|
NM_001267550.2(TTN):c.58882G>A (p.Val19628Ile)
|
rs772550095
|
0.00002
|
|
NM_001267550.2(TTN):c.5892G>T (p.Val1964=)
|
rs752730793
|
0.00002
|
|
NM_001267550.2(TTN):c.59036-14C>A
|
rs563870758
|
0.00002
|
|
NM_001267550.2(TTN):c.59178G>A (p.Glu19726=)
|
rs1360470913
|
0.00002
|
|
NM_001267550.2(TTN):c.59247C>T (p.Asp19749=)
|
rs587780491
|
0.00002
|
|
NM_001267550.2(TTN):c.59634T>C (p.Pro19878=)
|
rs529488909
|
0.00002
|
|
NM_001267550.2(TTN):c.59763C>T (p.Ser19921=)
|
rs1161679210
|
0.00002
|
|
NM_001267550.2(TTN):c.59827G>A (p.Glu19943Lys)
|
rs751863629
|
0.00002
|
|
NM_001267550.2(TTN):c.59917G>A (p.Asp19973Asn)
|
rs148353350
|
0.00002
|
|
NM_001267550.2(TTN):c.59927-11T>A
|
rs555554134
|
0.00002
|
|
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)
|
rs727505101
|
0.00002
|
|
NM_001267550.2(TTN):c.60003G>A (p.Pro20001=)
|
rs753118050
|
0.00002
|
|
NM_001267550.2(TTN):c.60097T>G (p.Leu20033Val)
|
rs878993043
|
0.00002
|
|
NM_001267550.2(TTN):c.60261T>C (p.Gly20087=)
|
rs777188146
|
0.00002
|
|
NM_001267550.2(TTN):c.60381T>A (p.Val20127=)
|
rs570215155
|
0.00002
|
|
NM_001267550.2(TTN):c.60999T>C (p.Thr20333=)
|
rs746358853
|
0.00002
|
|
NM_001267550.2(TTN):c.61815A>G (p.Ile20605Met)
|
rs761374262
|
0.00002
|
|
NM_001267550.2(TTN):c.61977C>T (p.Pro20659=)
|
rs763560548
|
0.00002
|
|
NM_001267550.2(TTN):c.62766T>C (p.Gly20922=)
|
rs752423017
|
0.00002
|
|
NM_001267550.2(TTN):c.62970T>C (p.Asp20990=)
|
rs764520176
|
0.00002
|
|
NM_001267550.2(TTN):c.6304G>T (p.Val2102Leu)
|
rs767322897
|
0.00002
|
|
NM_001267550.2(TTN):c.63187+8G>A
|
rs727503584
|
0.00002
|
|
NM_001267550.2(TTN):c.63285G>A (p.Pro21095=)
|
rs760168563
|
0.00002
|
|
NM_001267550.2(TTN):c.63432G>A (p.Arg21144=)
|
rs776520284
|
0.00002
|
|
NM_001267550.2(TTN):c.63521T>C (p.Ile21174Thr)
|
rs1319446307
|
0.00002
|
|
NM_001267550.2(TTN):c.63558G>A (p.Val21186=)
|
rs200261892
|
0.00002
|
|
NM_001267550.2(TTN):c.63711C>A (p.Thr21237=)
|
rs763404962
|
0.00002
|
|
NM_001267550.2(TTN):c.63793+9del
|
rs771033923
|
0.00002
|
|
NM_001267550.2(TTN):c.63794-15T>C
|
rs762325051
|
0.00002
|
|
NM_001267550.2(TTN):c.63819A>G (p.Leu21273=)
|
rs944964747
|
0.00002
|
|
NM_001267550.2(TTN):c.63896C>T (p.Thr21299Ile)
|
rs1031526299
|
0.00002
|
|
NM_001267550.2(TTN):c.64023T>C (p.Thr21341=)
|
rs747104609
|
0.00002
|
|
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=)
|
rs397517657
|
0.00002
|
|
NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly)
|
rs748901968
|
0.00002
|
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
|
NM_001267550.2(TTN):c.64356A>G (p.Pro21452=)
|
rs1431828617
|
0.00002
|
|
NM_001267550.2(TTN):c.64475G>A (p.Gly21492Glu)
|
rs879135883
|
0.00002
|
|
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala)
|
rs397517693
|
0.00002
|
|
NM_001267550.2(TTN):c.64816G>C (p.Asp21606His)
|
rs751046367
|
0.00002
|
|
NM_001267550.2(TTN):c.6508+15T>C
|
rs747722195
|
0.00002
|
|
NM_001267550.2(TTN):c.65280T>C (p.Pro21760=)
|
rs374177732
|
0.00002
|
|
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)
|
rs746956869
|
0.00002
|
|
NM_001267550.2(TTN):c.65448G>A (p.Gln21816=)
|
rs755563232
|
0.00002
|
|
NM_001267550.2(TTN):c.65457C>T (p.Tyr21819=)
|
rs529491333
|
0.00002
|
|
NM_001267550.2(TTN):c.65566G>A (p.Ala21856Thr)
|
rs752176305
|
0.00002
|
|
NM_001267550.2(TTN):c.65586G>A (p.Arg21862=)
|
rs766306603
|
0.00002
|
|
NM_001267550.2(TTN):c.65595G>T (p.Leu21865=)
|
rs879236471
|
0.00002
|
|
NM_001267550.2(TTN):c.65622T>C (p.Thr21874=)
|
rs55766906
|
0.00002
|
|
NM_001267550.2(TTN):c.65700T>C (p.Asp21900=)
|
rs772440358
|
0.00002
|
|
NM_001267550.2(TTN):c.65715A>C (p.Lys21905Asn)
|
rs574615636
|
0.00002
|
|
NM_001267550.2(TTN):c.66240A>C (p.Ala22080=)
|
rs375181938
|
0.00002
|
|
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr)
|
rs727505036
|
0.00002
|
|
NM_001267550.2(TTN):c.66372C>T (p.Thr22124=)
|
rs756981729
|
0.00002
|
|
NM_001267550.2(TTN):c.66386G>A (p.Arg22129His)
|
rs187257105
|
0.00002
|
|
NM_001267550.2(TTN):c.66411A>C (p.Gly22137=)
|
rs1270361185
|
0.00002
|
|
NM_001267550.2(TTN):c.66463+13G>T
|
rs749690571
|
0.00002
|
|
NM_001267550.2(TTN):c.66464-15A>G
|
rs769254613
|
0.00002
|
|
NM_001267550.2(TTN):c.66544T>G (p.Tyr22182Asp)
|
rs878854327
|
0.00002
|
|
NM_001267550.2(TTN):c.66600C>T (p.Ser22200=)
|
rs371324060
|
0.00002
|
|
NM_001267550.2(TTN):c.66940G>T (p.Asp22314Tyr)
|
rs768380109
|
0.00002
|
|
NM_001267550.2(TTN):c.66958C>T (p.Arg22320Cys)
|
rs772361876
|
0.00002
|
|
NM_001267550.2(TTN):c.67146C>T (p.Gly22382=)
|
rs770418172
|
0.00002
|
|
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp)
|
rs563233842
|
0.00002
|
|
NM_001267550.2(TTN):c.67685C>A (p.Ala22562Asp)
|
rs776797528
|
0.00002
|
|
NM_001267550.2(TTN):c.67731G>A (p.Lys22577=)
|
rs1459363772
|
0.00002
|
|
NM_001267550.2(TTN):c.67737T>G (p.Ala22579=)
|
rs765975995
|
0.00002
|
|
NM_001267550.2(TTN):c.6773C>T (p.Ala2258Val)
|
rs72647881
|
0.00002
|
|
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg)
|
rs775579156
|
0.00002
|
|
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=)
|
rs548223512
|
0.00002
|
|
NM_001267550.2(TTN):c.68802C>T (p.Thr22934=)
|
rs767646059
|
0.00002
|
|
NM_001267550.2(TTN):c.68848C>A (p.Pro22950Thr)
|
rs770007899
|
0.00002
|
|
NM_001267550.2(TTN):c.68850C>A (p.Pro22950=)
|
rs762272798
|
0.00002
|
|
NM_001267550.2(TTN):c.69042T>C (p.Asp23014=)
|
rs750181550
|
0.00002
|
|
NM_001267550.2(TTN):c.69084G>A (p.Thr23028=)
|
rs757132910
|
0.00002
|
|
NM_001267550.2(TTN):c.69120A>G (p.Val23040=)
|
rs754349287
|
0.00002
|
|
NM_001267550.2(TTN):c.69193T>C (p.Leu23065=)
|
rs776735247
|
0.00002
|
|
NM_001267550.2(TTN):c.69204C>A (p.Gly23068=)
|
rs188919648
|
0.00002
|
|
NM_001267550.2(TTN):c.69327G>A (p.Glu23109=)
|
rs374187062
|
0.00002
|
|
NM_001267550.2(TTN):c.69378A>G (p.Val23126=)
|
rs1439049717
|
0.00002
|
|
NM_001267550.2(TTN):c.69393C>T (p.Val23131=)
|
rs727504692
|
0.00002
|
|
NM_001267550.2(TTN):c.6942T>C (p.Ile2314=)
|
rs762511156
|
0.00002
|
|
NM_001267550.2(TTN):c.6945A>G (p.Thr2315=)
|
rs879103814
|
0.00002
|
|
NM_001267550.2(TTN):c.69501T>C (p.Gly23167=)
|
rs906660924
|
0.00002
|
|
NM_001267550.2(TTN):c.69828C>T (p.Val23276=)
|
rs55659506
|
0.00002
|
|
NM_001267550.2(TTN):c.69852C>T (p.Asp23284=)
|
rs760049838
|
0.00002
|
|
NM_001267550.2(TTN):c.69882C>T (p.Thr23294=)
|
rs376056197
|
0.00002
|
|
NM_001267550.2(TTN):c.69960C>T (p.Asn23320=)
|
rs752969136
|
0.00002
|
|
NM_001267550.2(TTN):c.70257C>T (p.Asn23419=)
|
rs374496130
|
0.00002
|
|
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=)
|
rs72646887
|
0.00002
|
|
NM_001267550.2(TTN):c.70287C>T (p.Asn23429=)
|
rs757831376
|
0.00002
|
|
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp)
|
rs760509116
|
0.00002
|
|
NM_001267550.2(TTN):c.7057+1G>A
|
rs763909866
|
0.00002
|
|
NM_001267550.2(TTN):c.70983G>A (p.Pro23661=)
|
rs568193318
|
0.00002
|
|
NM_001267550.2(TTN):c.71259C>T (p.Asn23753=)
|
rs367685557
|
0.00002
|
|
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser)
|
rs727503564
|
0.00002
|
|
NM_001267550.2(TTN):c.71769T>C (p.Asp23923=)
|
rs770323152
|
0.00002
|
|
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile)
|
rs752648041
|
0.00002
|
|
NM_001267550.2(TTN):c.72048T>C (p.Asp24016=)
|
rs1470895952
|
0.00002
|
|
NM_001267550.2(TTN):c.72424C>T (p.Leu24142=)
|
rs1178099292
|
0.00002
|
|
NM_001267550.2(TTN):c.72471T>C (p.His24157=)
|
rs188558683
|
0.00002
|
|
NM_001267550.2(TTN):c.72675G>A (p.Pro24225=)
|
rs374314698
|
0.00002
|
|
NM_001267550.2(TTN):c.73146T>A (p.Thr24382=)
|
rs372092427
|
0.00002
|
|
NM_001267550.2(TTN):c.732C>T (p.Ala244=)
|
rs761859812
|
0.00002
|
|
NM_001267550.2(TTN):c.7331-11T>C
|
rs1198109375
|
0.00002
|
|
NM_001267550.2(TTN):c.7331-16G>T
|
rs372580840
|
0.00002
|
|
NM_001267550.2(TTN):c.73368T>C (p.Pro24456=)
|
rs373361363
|
0.00002
|
|
NM_001267550.2(TTN):c.73759T>C (p.Cys24587Arg)
|
rs776113871
|
0.00002
|
|
NM_001267550.2(TTN):c.7383G>A (p.Lys2461=)
|
rs752865519
|
0.00002
|
|
NM_001267550.2(TTN):c.73896T>C (p.Ser24632=)
|
rs553251216
|
0.00002
|
|
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)
|
rs565784637
|
0.00002
|
|
NM_001267550.2(TTN):c.73995G>A (p.Thr24665=)
|
rs369122344
|
0.00002
|
|
NM_001267550.2(TTN):c.74292A>G (p.Ala24764=)
|
rs1005955398
|
0.00002
|
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
|
NM_001267550.2(TTN):c.74556C>G (p.Ser24852=)
|
rs553463282
|
0.00002
|
|
NM_001267550.2(TTN):c.75003T>C (p.Tyr25001=)
|
rs565568843
|
0.00002
|
|
NM_001267550.2(TTN):c.75011G>A (p.Arg25004His)
|
rs909041164
|
0.00002
|
|
NM_001267550.2(TTN):c.7524T>C (p.His2508=)
|
rs2291307
|
0.00002
|
|
NM_001267550.2(TTN):c.75531C>T (p.Val25177=)
|
rs748541133
|
0.00002
|
|
NM_001267550.2(TTN):c.75554A>C (p.Lys25185Thr)
|
rs371042435
|
0.00002
|
|
NM_001267550.2(TTN):c.75620C>G (p.Pro25207Arg)
|
rs72646900
|
0.00002
|
|
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys)
|
rs397517702
|
0.00002
|
|
NM_001267550.2(TTN):c.75746G>A (p.Arg25249His)
|
rs773286477
|
0.00002
|
|
NM_001267550.2(TTN):c.76017T>C (p.Tyr25339=)
|
rs1057523937
|
0.00002
|
|
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His)
|
rs397517703
|
0.00002
|
|
NM_001267550.2(TTN):c.7634C>T (p.Thr2545Ile)
|
rs1016165797
|
0.00002
|
|
NM_001267550.2(TTN):c.76482C>T (p.Asp25494=)
|
rs370908118
|
0.00002
|
|
NM_001267550.2(TTN):c.76627A>G (p.Lys25543Glu)
|
rs372016541
|
0.00002
|
|
NM_001267550.2(TTN):c.76740G>A (p.Thr25580=)
|
rs555978535
|
0.00002
|
|
NM_001267550.2(TTN):c.76845A>G (p.Lys25615=)
|
rs1182976097
|
0.00002
|
|
NM_001267550.2(TTN):c.77622T>C (p.Asn25874=)
|
rs766227814
|
0.00002
|
|
NM_001267550.2(TTN):c.77799A>T (p.Thr25933=)
|
rs727505210
|
0.00002
|
|
NM_001267550.2(TTN):c.78286G>A (p.Glu26096Lys)
|
rs370515843
|
0.00002
|
|
NM_001267550.2(TTN):c.79105G>A (p.Val26369Ile)
|
rs778729064
|
0.00002
|
|
NM_001267550.2(TTN):c.79213G>A (p.Val26405Ile)
|
rs769972835
|
0.00002
|
|
NM_001267550.2(TTN):c.79545C>T (p.Gly26515=)
|
rs761713195
|
0.00002
|
|
NM_001267550.2(TTN):c.79744A>C (p.Lys26582Gln)
|
rs775918922
|
0.00002
|
|
NM_001267550.2(TTN):c.79788C>T (p.Ser26596=)
|
rs777989882
|
0.00002
|
|
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln)
|
rs536183519
|
0.00002
|
|
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)
|
rs377506142
|
0.00002
|
|
NM_001267550.2(TTN):c.80868T>C (p.Asn26956=)
|
rs780749635
|
0.00002
|
|
NM_001267550.2(TTN):c.80898T>C (p.Ser26966=)
|
rs374042845
|
0.00002
|
|
NM_001267550.2(TTN):c.80949T>C (p.Asp26983=)
|
rs775115560
|
0.00002
|
|
NM_001267550.2(TTN):c.80988T>C (p.Pro26996=)
|
rs777655527
|
0.00002
|
|
NM_001267550.2(TTN):c.80997T>C (p.Tyr26999=)
|
rs753036492
|
0.00002
|
|
NM_001267550.2(TTN):c.81297T>C (p.Asp27099=)
|
rs727505134
|
0.00002
|
|
NM_001267550.2(TTN):c.81483G>A (p.Val27161=)
|
rs776676417
|
0.00002
|
|
NM_001267550.2(TTN):c.81858T>C (p.Val27286=)
|
rs727503558
|
0.00002
|
|
NM_001267550.2(TTN):c.82022G>A (p.Arg27341Gln)
|
rs555414240
|
0.00002
|
|
NM_001267550.2(TTN):c.82152G>A (p.Ala27384=)
|
rs771905375
|
0.00002
|
|
NM_001267550.2(TTN):c.82551C>G (p.Thr27517=)
|
rs373634657
|
0.00002
|
|
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp)
|
rs749852593
|
0.00002
|
|
NM_001267550.2(TTN):c.82583G>A (p.Arg27528Gln)
|
rs765230578
|
0.00002
|
|
NM_001267550.2(TTN):c.82814A>G (p.Tyr27605Cys)
|
rs753352392
|
0.00002
|
|
NM_001267550.2(TTN):c.83011G>C (p.Glu27671Gln)
|
rs949881130
|
0.00002
|
|
NM_001267550.2(TTN):c.83324T>C (p.Ile27775Thr)
|
rs769577217
|
0.00002
|
|
NM_001267550.2(TTN):c.83519T>C (p.Val27840Ala)
|
rs752446232
|
0.00002
|
|
NM_001267550.2(TTN):c.83779A>C (p.Thr27927Pro)
|
rs1164046049
|
0.00002
|
|
NM_001267550.2(TTN):c.84066T>C (p.Ile28022=)
|
rs781111844
|
0.00002
|
|
NM_001267550.2(TTN):c.84405T>C (p.Tyr28135=)
|
rs756176112
|
0.00002
|
|
NM_001267550.2(TTN):c.84633T>C (p.Asp28211=)
|
rs1211159517
|
0.00002
|
|
NM_001267550.2(TTN):c.84651C>T (p.Ser28217=)
|
rs377667809
|
0.00002
|
|
NM_001267550.2(TTN):c.84945T>A (p.Thr28315=)
|
rs768116404
|
0.00002
|
|
NM_001267550.2(TTN):c.84998C>T (p.Ala28333Val)
|
rs886042586
|
0.00002
|
|
NM_001267550.2(TTN):c.85284T>C (p.Tyr28428=)
|
rs755188195
|
0.00002
|
|
NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp)
|
rs757653038
|
0.00002
|
|
NM_001267550.2(TTN):c.85420C>T (p.Arg28474Cys)
|
rs757771061
|
0.00002
|
|
NM_001267550.2(TTN):c.85421G>A (p.Arg28474His)
|
rs754356257
|
0.00002
|
|
NM_001267550.2(TTN):c.85624A>G (p.Ile28542Val)
|
rs554841820
|
0.00002
|
|
NM_001267550.2(TTN):c.85665G>A (p.Thr28555=)
|
rs376611533
|
0.00002
|
|
NM_001267550.2(TTN):c.85917C>G (p.Thr28639=)
|
rs761845217
|
0.00002
|
|
NM_001267550.2(TTN):c.86190G>A (p.Lys28730=)
|
rs771413979
|
0.00002
|
|
NM_001267550.2(TTN):c.86289C>T (p.Thr28763=)
|
rs369221174
|
0.00002
|
|
NM_001267550.2(TTN):c.86589G>A (p.Val28863=)
|
rs746386371
|
0.00002
|
|
NM_001267550.2(TTN):c.86613C>T (p.Asn28871=)
|
rs778096530
|
0.00002
|
|
NM_001267550.2(TTN):c.86676G>T (p.Trp28892Cys)
|
rs779407441
|
0.00002
|
|
NM_001267550.2(TTN):c.86703C>T (p.Arg28901=)
|
rs1318186702
|
0.00002
|
|
NM_001267550.2(TTN):c.86982G>A (p.Val28994=)
|
rs748139282
|
0.00002
|
|
NM_001267550.2(TTN):c.87102T>A (p.Leu29034=)
|
rs781200259
|
0.00002
|
|
NM_001267550.2(TTN):c.87360C>T (p.Ala29120=)
|
rs759442901
|
0.00002
|
|
NM_001267550.2(TTN):c.87650G>A (p.Arg29217His)
|
rs749606240
|
0.00002
|
|
NM_001267550.2(TTN):c.87804A>G (p.Ala29268=)
|
rs1411999290
|
0.00002
|
|
NM_001267550.2(TTN):c.87940G>A (p.Ala29314Thr)
|
rs923029692
|
0.00002
|
|
NM_001267550.2(TTN):c.88009+17G>T
|
rs886924383
|
0.00002
|
|
NM_001267550.2(TTN):c.88406C>T (p.Ala29469Val)
|
rs397517740
|
0.00002
|
|
NM_001267550.2(TTN):c.88725G>A (p.Glu29575=)
|
rs771658919
|
0.00002
|
|
NM_001267550.2(TTN):c.88734C>T (p.Arg29578=)
|
rs749107962
|
0.00002
|
|
NM_001267550.2(TTN):c.88819C>T (p.Arg29607Trp)
|
rs781330566
|
0.00002
|
|
NM_001267550.2(TTN):c.88895-18C>T
|
rs547463003
|
0.00002
|
|
NM_001267550.2(TTN):c.8905A>G (p.Ile2969Val)
|
rs764394936
|
0.00002
|
|
NM_001267550.2(TTN):c.89184T>C (p.Ala29728=)
|
rs776935505
|
0.00002
|
|
NM_001267550.2(TTN):c.89220G>A (p.Lys29740=)
|
rs1470927227
|
0.00002
|
|
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)
|
rs1179247052
|
0.00002
|
|
NM_001267550.2(TTN):c.89568T>C (p.Asp29856=)
|
rs759394282
|
0.00002
|
|
NM_001267550.2(TTN):c.89735T>C (p.Leu29912Pro)
|
rs748326514
|
0.00002
|
|
NM_001267550.2(TTN):c.8991C>A (p.Ile2997=)
|
rs757524187
|
0.00002
|
|
NM_001267550.2(TTN):c.90228G>A (p.Thr30076=)
|
rs778516869
|
0.00002
|
|
NM_001267550.2(TTN):c.90405T>C (p.Asp30135=)
|
rs371945826
|
0.00002
|
|
NM_001267550.2(TTN):c.90412G>A (p.Gly30138Arg)
|
rs1225356759
|
0.00002
|
|
NM_001267550.2(TTN):c.90915C>T (p.Tyr30305=)
|
rs748302876
|
0.00002
|
|
NM_001267550.2(TTN):c.91+14T>C
|
rs397517777
|
0.00002
|
|
NM_001267550.2(TTN):c.91304C>T (p.Thr30435Ile)
|
rs1060500591
|
0.00002
|
|
NM_001267550.2(TTN):c.91306C>T (p.Arg30436Trp)
|
rs773600127
|
0.00002
|
|
NM_001267550.2(TTN):c.91326A>G (p.Lys30442=)
|
rs367777281
|
0.00002
|
|
NM_001267550.2(TTN):c.91483A>C (p.Arg30495=)
|
rs200081879
|
0.00002
|
|
NM_001267550.2(TTN):c.91642G>C (p.Ala30548Pro)
|
rs369043548
|
0.00002
|
|
NM_001267550.2(TTN):c.91736T>C (p.Leu30579Pro)
|
rs765022890
|
0.00002
|
|
NM_001267550.2(TTN):c.92004A>G (p.Ala30668=)
|
rs780693632
|
0.00002
|
|
NM_001267550.2(TTN):c.92052A>G (p.Leu30684=)
|
rs764401165
|
0.00002
|
|
NM_001267550.2(TTN):c.92152+10C>T
|
rs376007682
|
0.00002
|
|
NM_001267550.2(TTN):c.92152+7T>G
|
rs574211300
|
0.00002
|
|
NM_001267550.2(TTN):c.92454C>T (p.Pro30818=)
|
rs771773845
|
0.00002
|
|
NM_001267550.2(TTN):c.92666G>A (p.Gly30889Asp)
|
rs727505280
|
0.00002
|
|
NM_001267550.2(TTN):c.9267G>A (p.Gln3089=)
|
rs764189986
|
0.00002
|
|
NM_001267550.2(TTN):c.92715C>T (p.Gly30905=)
|
rs140576051
|
0.00002
|
|
NM_001267550.2(TTN):c.92984C>A (p.Thr30995Asn)
|
rs886042408
|
0.00002
|
|
NM_001267550.2(TTN):c.9306-4A>G
|
rs757164431
|
0.00002
|
|
NM_001267550.2(TTN):c.93474C>T (p.Asp31158=)
|
rs750803038
|
0.00002
|
|
NM_001267550.2(TTN):c.93737A>G (p.Lys31246Arg)
|
rs775611779
|
0.00002
|
|
NM_001267550.2(TTN):c.93975G>A (p.Ser31325=)
|
rs752470969
|
0.00002
|
|
NM_001267550.2(TTN):c.94220-14T>C
|
rs775938480
|
0.00002
|
|
NM_001267550.2(TTN):c.94674G>A (p.Lys31558=)
|
rs1296046782
|
0.00002
|
|
NM_001267550.2(TTN):c.94899T>C (p.Leu31633=)
|
rs1429633152
|
0.00002
|
|
NM_001267550.2(TTN):c.95067A>G (p.Thr31689=)
|
rs879149440
|
0.00002
|
|
NM_001267550.2(TTN):c.95119+8T>C
|
rs778245729
|
0.00002
|
|
NM_001267550.2(TTN):c.95312G>A (p.Arg31771Lys)
|
rs397517760
|
0.00002
|
|
NM_001267550.2(TTN):c.95330A>C (p.Glu31777Ala)
|
rs955172279
|
0.00002
|
|
NM_001267550.2(TTN):c.95344G>A (p.Val31782Met)
|
rs377076423
|
0.00002
|
|
NM_001267550.2(TTN):c.95409C>T (p.Asn31803=)
|
rs727505040
|
0.00002
|
|
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu)
|
rs587780983
|
0.00002
|
|
NM_001267550.2(TTN):c.95526C>T (p.Tyr31842=)
|
rs374280166
|
0.00002
|
|
NM_001267550.2(TTN):c.95550G>A (p.Lys31850=)
|
rs775609788
|
0.00002
|
|
NM_001267550.2(TTN):c.95559C>A (p.Arg31853=)
|
rs764204332
|
0.00002
|
|
NM_001267550.2(TTN):c.95586G>A (p.Val31862=)
|
rs566183763
|
0.00002
|
|
NM_001267550.2(TTN):c.95805C>T (p.Tyr31935=)
|
rs375076970
|
0.00002
|
|
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln)
|
rs763270971
|
0.00002
|
|
NM_001267550.2(TTN):c.95877G>A (p.Val31959=)
|
rs373041862
|
0.00002
|
|
NM_001267550.2(TTN):c.9591A>G (p.Val3197=)
|
rs757657812
|
0.00002
|
|
NM_001267550.2(TTN):c.95967C>T (p.Asn31989=)
|
rs775762346
|
0.00002
|
|
NM_001267550.2(TTN):c.96030A>G (p.Glu32010=)
|
rs144101806
|
0.00002
|
|
NM_001267550.2(TTN):c.96420C>T (p.Tyr32140=)
|
rs1009407656
|
0.00002
|
|
NM_001267550.2(TTN):c.96604G>T (p.Val32202Leu)
|
rs755717335
|
0.00002
|
|
NM_001267550.2(TTN):c.96718G>A (p.Glu32240Lys)
|
rs374598326
|
0.00002
|
|
NM_001267550.2(TTN):c.97242T>C (p.Ala32414=)
|
rs776580922
|
0.00002
|
|
NM_001267550.2(TTN):c.97292C>T (p.Pro32431Leu)
|
rs1060500426
|
0.00002
|
|
NM_001267550.2(TTN):c.97330C>T (p.Arg32444Cys)
|
rs776164829
|
0.00002
|
|
NM_001267550.2(TTN):c.97395C>T (p.Thr32465=)
|
rs755328785
|
0.00002
|
|
NM_001267550.2(TTN):c.97605T>G (p.Ile32535Met)
|
rs760676361
|
0.00002
|
|
NM_001267550.2(TTN):c.97746T>C (p.Ser32582=)
|
rs757966948
|
0.00002
|
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
|
NM_001267550.2(TTN):c.98464G>A (p.Asp32822Asn)
|
rs921446344
|
0.00002
|
|
NM_001267550.2(TTN):c.98680T>C (p.Leu32894=)
|
rs776366085
|
0.00002
|
|
NM_001267550.2(TTN):c.98684-12T>C
|
rs752771741
|
0.00002
|
|
NM_001267550.2(TTN):c.98806C>T (p.Arg32936Cys)
|
rs764276622
|
0.00002
|
|
NM_001267550.2(TTN):c.98952C>T (p.Ser32984=)
|
rs377071916
|
0.00002
|
|
NM_001267550.2(TTN):c.99231T>C (p.Asn33077=)
|
rs774379550
|
0.00002
|
|
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His)
|
rs777035261
|
0.00002
|
|
NM_001267550.2(TTN):c.99289+12T>G
|
rs754663367
|
0.00002
|
|
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)
|
rs140025425
|
0.00002
|
|
NM_001267550.2(TTN):c.99861A>G (p.Ile33287Met)
|
rs758948672
|
0.00002
|
|
NM_001267550.2(TTN):c.99921C>T (p.Ser33307=)
|
rs779347462
|
0.00002
|
|
NM_001267550.2(TTN):c.99945C>T (p.Pro33315=)
|
rs751111629
|
0.00002
|
|
NM_001368067.1(LDB3):c.361C>T (p.Arg121Cys)
|
rs750606592
|
0.00002
|
|
NM_001368067.1(LDB3):c.410C>T (p.Pro137Leu)
|
rs938329394
|
0.00002
|
|
NM_001368067.1(LDB3):c.432C>T (p.Gly144=)
|
rs558590519
|
0.00002
|
|
NM_001368067.1(LDB3):c.456G>A (p.Ala152=)
|
rs371708921
|
0.00002
|
|
NM_001368067.1(LDB3):c.465C>T (p.Asn155=)
|
rs200462775
|
0.00002
|
|
NM_001368067.1(LDB3):c.788G>A (p.Arg263His)
|
rs780518038
|
0.00002
|
|
NM_001378030.1(CCDC78):c.1014C>T (p.Pro338=)
|
rs764805299
|
0.00002
|
|
NM_001378030.1(CCDC78):c.1053+13A>G
|
rs769940521
|
0.00002
|
|
NM_001378030.1(CCDC78):c.1059C>T (p.Gly353=)
|
rs773310049
|
0.00002
|
|
NM_001378030.1(CCDC78):c.1133+16G>T
|
rs778741526
|
0.00002
|
|
NM_001378030.1(CCDC78):c.1196C>T (p.Thr399Ile)
|
rs775067488
|
0.00002
|
|
NM_001378030.1(CCDC78):c.1278G>A (p.Glu426=)
|
rs773837439
|
0.00002
|
|
NM_001378030.1(CCDC78):c.141C>T (p.Val47=)
|
rs765250833
|
0.00002
|
|
NM_001378030.1(CCDC78):c.155C>T (p.Ala52Val)
|
rs1432121366
|
0.00002
|
|
NM_001378030.1(CCDC78):c.180+20G>A
|
rs753155679
|
0.00002
|
|
NM_001378030.1(CCDC78):c.181-14C>T
|
rs776154471
|
0.00002
|
|
NM_001378030.1(CCDC78):c.246A>C (p.Glu82Asp)
|
rs201503907
|
0.00002
|
|
NM_001378030.1(CCDC78):c.29G>A (p.Arg10Lys)
|
rs893873268
|
0.00002
|
|
NM_001378030.1(CCDC78):c.303G>A (p.Glu101=)
|
rs1391537464
|
0.00002
|
|
NM_001378030.1(CCDC78):c.348G>A (p.Glu116=)
|
rs755948173
|
0.00002
|
|
NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu)
|
rs745392382
|
0.00002
|
|
NM_001378030.1(CCDC78):c.435+19A>C
|
rs199988256
|
0.00002
|
|
NM_001378030.1(CCDC78):c.535C>T (p.Arg179Trp)
|
rs758399024
|
0.00002
|
|
NM_001378030.1(CCDC78):c.574C>T (p.Arg192Trp)
|
rs754019798
|
0.00002
|
|
NM_001378030.1(CCDC78):c.593G>A (p.Arg198Gln)
|
rs763959604
|
0.00002
|
|
NM_001378030.1(CCDC78):c.61-1G>A
|
rs1006891646
|
0.00002
|
|
NM_001378030.1(CCDC78):c.613G>A (p.Gly205Arg)
|
rs759028646
|
0.00002
|
|
NM_001378030.1(CCDC78):c.61G>A (p.Val21Ile)
|
rs757617074
|
0.00002
|
|
NM_001378030.1(CCDC78):c.721G>A (p.Asp241Asn)
|
rs370899425
|
0.00002
|
|
NM_001378030.1(CCDC78):c.765+9T>C
|
rs765738306
|
0.00002
|
|
NM_001378030.1(CCDC78):c.842T>A (p.Ile281Asn)
|
rs1037631909
|
0.00002
|
|
NM_001378030.1(CCDC78):c.857G>A (p.Arg286His)
|
rs750889592
|
0.00002
|
|
NM_001378030.1(CCDC78):c.874del (p.Leu292fs)
|
rs746756519
|
0.00002
|
|
NM_001378030.1(CCDC78):c.931G>T (p.Glu311Ter)
|
rs2040614414
|
0.00002
|
|
NM_001382567.1(STIM1):c.1068G>A (p.Glu356=)
|
rs761203064
|
0.00002
|
|
NM_001382567.1(STIM1):c.1238+9C>T
|
rs375604403
|
0.00002
|
|
NM_001382567.1(STIM1):c.1355C>G (p.Ala452Gly)
|
rs114915823
|
0.00002
|
|
NM_001382567.1(STIM1):c.1393C>T (p.Arg465Cys)
|
rs749694629
|
0.00002
|
|
NM_001382567.1(STIM1):c.1591C>T (p.Arg531Trp)
|
rs772902514
|
0.00002
|
|
NM_001382567.1(STIM1):c.1599C>T (p.Arg533=)
|
rs377102721
|
0.00002
|
|
NM_001382567.1(STIM1):c.1603A>G (p.Thr535Ala)
|
rs200528072
|
0.00002
|
|
NM_001382567.1(STIM1):c.1651G>A (p.Asp551Asn)
|
rs199914458
|
0.00002
|
|
NM_001382567.1(STIM1):c.1656G>A (p.Ser552=)
|
rs148209416
|
0.00002
|
|
NM_001382567.1(STIM1):c.1674G>A (p.Met558Ile)
|
rs146111967
|
0.00002
|
|
NM_001382567.1(STIM1):c.1676G>A (p.Ser559Asn)
|
rs200078549
|
0.00002
|
|
NM_001382567.1(STIM1):c.1761C>G (p.Ser587Arg)
|
rs201543900
|
0.00002
|
|
NM_001382567.1(STIM1):c.1772T>C (p.Ile591Thr)
|
rs1036967931
|
0.00002
|
|
NM_001382567.1(STIM1):c.1773C>T (p.Ile591=)
|
rs1308455316
|
0.00002
|
|
NM_001382567.1(STIM1):c.1894C>T (p.Pro632Ser)
|
rs200960094
|
0.00002
|
|
NM_001382567.1(STIM1):c.196G>A (p.Glu66Lys)
|
rs199799231
|
0.00002
|
|
NM_001382567.1(STIM1):c.239A>G (p.Asn80Ser)
|
rs748277951
|
0.00002
|
|
NM_001382567.1(STIM1):c.270+13A>G
|
rs201780058
|
0.00002
|
|
NM_001382567.1(STIM1):c.285C>T (p.Asp95=)
|
rs780488492
|
0.00002
|
|
NM_001382567.1(STIM1):c.738G>A (p.Lys246=)
|
rs536528954
|
0.00002
|
|
NM_001382567.1(STIM1):c.853A>G (p.Lys285Glu)
|
rs1474279628
|
0.00002
|
|
NM_001382567.1(STIM1):c.871A>G (p.Asn291Asp)
|
rs201523207
|
0.00002
|
|
NM_001382567.1(STIM1):c.91G>C (p.Ala31Pro)
|
rs368091975
|
0.00002
|
|
NM_001382567.1(STIM1):c.969+16A>G
|
rs774941610
|
0.00002
|
|
NM_001458.5(FLNC):c.1001G>A (p.Arg334His)
|
rs779347920
|
0.00002
|
|
NM_001458.5(FLNC):c.1020T>C (p.Tyr340=)
|
rs376514318
|
0.00002
|
|
NM_001458.5(FLNC):c.1141C>T (p.Arg381Cys)
|
rs770692923
|
0.00002
|
|
NM_001458.5(FLNC):c.1208C>T (p.Ala403Val)
|
rs777199447
|
0.00002
|
|
NM_001458.5(FLNC):c.1209G>A (p.Ala403=)
|
rs746938160
|
0.00002
|
|
NM_001458.5(FLNC):c.1215C>T (p.Ala405=)
|
rs749510534
|
0.00002
|
|
NM_001458.5(FLNC):c.1227T>C (p.Asp409=)
|
rs375033262
|
0.00002
|
|
NM_001458.5(FLNC):c.1258C>T (p.Arg420Trp)
|
rs766755439
|
0.00002
|
|
NM_001458.5(FLNC):c.1260G>A (p.Arg420=)
|
rs759951101
|
0.00002
|
|
NM_001458.5(FLNC):c.1309C>T (p.Arg437Cys)
|
rs374847180
|
0.00002
|
|
NM_001458.5(FLNC):c.1365G>A (p.Ala455=)
|
rs377345122
|
0.00002
|
|
NM_001458.5(FLNC):c.1372C>T (p.Pro458Ser)
|
rs369747694
|
0.00002
|
|
NM_001458.5(FLNC):c.1617G>A (p.Pro539=)
|
rs369222964
|
0.00002
|
|
NM_001458.5(FLNC):c.1641G>C (p.Val547=)
|
rs202142168
|
0.00002
|
|
NM_001458.5(FLNC):c.1724G>A (p.Arg575Gln)
|
rs764751276
|
0.00002
|
|
NM_001458.5(FLNC):c.174C>G (p.Thr58=)
|
rs763488290
|
0.00002
|
|
NM_001458.5(FLNC):c.176A>G (p.Asp59Gly)
|
rs1164296903
|
0.00002
|
|
NM_001458.5(FLNC):c.1798G>A (p.Glu600Lys)
|
rs760911646
|
0.00002
|
|
NM_001458.5(FLNC):c.1809A>G (p.Thr603=)
|
rs751006360
|
0.00002
|
|
NM_001458.5(FLNC):c.1848C>T (p.Ile616=)
|
rs770173704
|
0.00002
|
|
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg)
|
rs576402053
|
0.00002
|
|
NM_001458.5(FLNC):c.1981G>A (p.Ala661Thr)
|
rs1480694554
|
0.00002
|
|
NM_001458.5(FLNC):c.2008-7C>T
|
rs767576240
|
0.00002
|
|
NM_001458.5(FLNC):c.2190C>T (p.Tyr730=)
|
rs746733934
|
0.00002
|
|
NM_001458.5(FLNC):c.2216C>T (p.Thr739Ile)
|
rs749380628
|
0.00002
|
|
NM_001458.5(FLNC):c.2244C>T (p.Asn748=)
|
rs752145129
|
0.00002
|
|
NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser)
|
rs1031265089
|
0.00002
|
|
NM_001458.5(FLNC):c.2364G>A (p.Thr788=)
|
rs1020284790
|
0.00002
|
|
NM_001458.5(FLNC):c.2377G>A (p.Glu793Lys)
|
rs187143486
|
0.00002
|
|
NM_001458.5(FLNC):c.2389+19G>T
|
rs1359230020
|
0.00002
|
|
NM_001458.5(FLNC):c.2389+5G>A
|
rs901857994
|
0.00002
|
|
NM_001458.5(FLNC):c.2403C>T (p.Ile801=)
|
rs369234137
|
0.00002
|
|
NM_001458.5(FLNC):c.2458G>A (p.Asp820Asn)
|
rs965901086
|
0.00002
|
|
NM_001458.5(FLNC):c.2466C>T (p.Ile822=)
|
rs1349110023
|
0.00002
|
|
NM_001458.5(FLNC):c.2518C>T (p.Arg840Cys)
|
rs373514748
|
0.00002
|
|
NM_001458.5(FLNC):c.2551-17G>A
|
rs953166619
|
0.00002
|
|
NM_001458.5(FLNC):c.2560G>A (p.Ala854Thr)
|
rs749855792
|
0.00002
|
|
NM_001458.5(FLNC):c.2574C>T (p.His858=)
|
rs779819905
|
0.00002
|
|
NM_001458.5(FLNC):c.2595C>T (p.His865=)
|
rs778744785
|
0.00002
|
|
NM_001458.5(FLNC):c.2642-16C>T
|
rs747314181
|
0.00002
|
|
NM_001458.5(FLNC):c.2691C>T (p.Ala897=)
|
rs758116420
|
0.00002
|
|
NM_001458.5(FLNC):c.2692G>A (p.Gly898Ser)
|
rs777692031
|
0.00002
|
|
NM_001458.5(FLNC):c.2736C>T (p.Gly912=)
|
rs768894698
|
0.00002
|
|
NM_001458.5(FLNC):c.2812-16C>T
|
rs754582909
|
0.00002
|
|
NM_001458.5(FLNC):c.2812-4A>T
|
rs1461105538
|
0.00002
|
|
NM_001458.5(FLNC):c.2839G>C (p.Gly947Arg)
|
rs372741923
|
0.00002
|
|
NM_001458.5(FLNC):c.2879T>G (p.Val960Gly)
|
rs568452175
|
0.00002
|
|
NM_001458.5(FLNC):c.2934G>A (p.Val978=)
|
rs771749289
|
0.00002
|
|
NM_001458.5(FLNC):c.3001G>A (p.Val1001Met)
|
rs1037999644
|
0.00002
|
|
NM_001458.5(FLNC):c.3005G>A (p.Arg1002Gln)
|
rs202039743
|
0.00002
|
|
NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys)
|
rs757969015
|
0.00002
|
|
NM_001458.5(FLNC):c.3062C>T (p.Ala1021Val)
|
rs574118437
|
0.00002
|
|
NM_001458.5(FLNC):c.3069C>G (p.Ala1023=)
|
rs1022641897
|
0.00002
|
|
NM_001458.5(FLNC):c.3079C>T (p.Arg1027Cys)
|
rs541775814
|
0.00002
|
|
NM_001458.5(FLNC):c.3093G>A (p.Pro1031=)
|
rs1203053799
|
0.00002
|
|
NM_001458.5(FLNC):c.3243G>A (p.Ala1081=)
|
rs534482249
|
0.00002
|
|
NM_001458.5(FLNC):c.3255C>T (p.Ile1085=)
|
rs771719713
|
0.00002
|
|
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile)
|
rs759452636
|
0.00002
|
|
NM_001458.5(FLNC):c.3300G>A (p.Glu1100=)
|
rs1313856787
|
0.00002
|
|
NM_001458.5(FLNC):c.3310G>A (p.Glu1104Lys)
|
rs535109443
|
0.00002
|
|
NM_001458.5(FLNC):c.3372G>A (p.Thr1124=)
|
rs556913973
|
0.00002
|
|
NM_001458.5(FLNC):c.3405T>C (p.Phe1135=)
|
rs775337940
|
0.00002
|
|
NM_001458.5(FLNC):c.3407C>T (p.Ala1136Val)
|
rs762793681
|
0.00002
|
|
NM_001458.5(FLNC):c.3488C>T (p.Pro1163Leu)
|
rs377489161
|
0.00002
|
|
NM_001458.5(FLNC):c.3499C>T (p.Arg1167Cys)
|
rs766439553
|
0.00002
|
|
NM_001458.5(FLNC):c.3595A>G (p.Lys1199Glu)
|
rs753260970
|
0.00002
|
|
NM_001458.5(FLNC):c.360G>A (p.Lys120=)
|
rs867399299
|
0.00002
|
|
NM_001458.5(FLNC):c.3649A>T (p.Ser1217Cys)
|
rs759597112
|
0.00002
|
|
NM_001458.5(FLNC):c.3744C>T (p.Val1248=)
|
rs374922440
|
0.00002
|
|
NM_001458.5(FLNC):c.3781G>A (p.Glu1261Lys)
|
rs747033771
|
0.00002
|
|
NM_001458.5(FLNC):c.3789C>T (p.His1263=)
|
rs780906350
|
0.00002
|
|
NM_001458.5(FLNC):c.3812C>G (p.Thr1271Ser)
|
rs778997084
|
0.00002
|
|
NM_001458.5(FLNC):c.3837C>T (p.Ser1279=)
|
rs761100799
|
0.00002
|
|
NM_001458.5(FLNC):c.3851G>A (p.Gly1284Asp)
|
rs1041643602
|
0.00002
|
|
NM_001458.5(FLNC):c.3964+10G>A
|
rs747730336
|
0.00002
|
|
NM_001458.5(FLNC):c.3965-13G>C
|
rs1451257102
|
0.00002
|
|
NM_001458.5(FLNC):c.400A>G (p.Ile134Val)
|
rs150285287
|
0.00002
|
|
NM_001458.5(FLNC):c.4018T>A (p.Phe1340Ile)
|
rs775383465
|
0.00002
|
|
NM_001458.5(FLNC):c.4061G>A (p.Arg1354Gln)
|
rs572132215
|
0.00002
|
|
NM_001458.5(FLNC):c.4073C>G (p.Pro1358Arg)
|
rs769586047
|
0.00002
|
|
NM_001458.5(FLNC):c.4159A>T (p.Ile1387Phe)
|
rs1032003580
|
0.00002
|
|
NM_001458.5(FLNC):c.4269C>T (p.Phe1423=)
|
rs781089974
|
0.00002
|
|
NM_001458.5(FLNC):c.4270G>A (p.Gly1424Arg)
|
rs1202331272
|
0.00002
|
|
NM_001458.5(FLNC):c.4300C>T (p.Arg1434Cys)
|
rs536331212
|
0.00002
|
|
NM_001458.5(FLNC):c.4457G>T (p.Gly1486Val)
|
rs767473791
|
0.00002
|
|
NM_001458.5(FLNC):c.449A>G (p.Asp150Gly)
|
rs760711912
|
0.00002
|
|
NM_001458.5(FLNC):c.44G>T (p.Gly15Val)
|
rs766081127
|
0.00002
|
|
NM_001458.5(FLNC):c.4513T>C (p.Tyr1505His)
|
rs761352737
|
0.00002
|
|
NM_001458.5(FLNC):c.4541C>T (p.Thr1514Met)
|
rs1159701068
|
0.00002
|
|
NM_001458.5(FLNC):c.4565A>G (p.Gln1522Arg)
|
rs1022106059
|
0.00002
|
|
NM_001458.5(FLNC):c.4635C>T (p.Ser1545=)
|
rs371367894
|
0.00002
|
|
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser)
|
rs774263134
|
0.00002
|
|
NM_001458.5(FLNC):c.4662C>T (p.Ile1554=)
|
rs374683306
|
0.00002
|
|
NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp)
|
rs369842920
|
0.00002
|
|
NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr)
|
rs768737324
|
0.00002
|
|
NM_001458.5(FLNC):c.4707G>A (p.Ala1569=)
|
rs541323590
|
0.00002
|
|
NM_001458.5(FLNC):c.4710C>T (p.Gly1570=)
|
rs774692750
|
0.00002
|
|
NM_001458.5(FLNC):c.4711G>A (p.Glu1571Lys)
|
rs761793156
|
0.00002
|
|
NM_001458.5(FLNC):c.4724C>G (p.Thr1575Ser)
|
rs773294974
|
0.00002
|
|
NM_001458.5(FLNC):c.4772G>A (p.Arg1591Gln)
|
rs755741955
|
0.00002
|
|
NM_001458.5(FLNC):c.479C>T (p.Thr160Met)
|
rs1357772572
|
0.00002
|
|
NM_001458.5(FLNC):c.4800G>A (p.Val1600=)
|
rs747928612
|
0.00002
|
|
NM_001458.5(FLNC):c.4860G>A (p.Glu1620=)
|
rs1397680696
|
0.00002
|
|
NM_001458.5(FLNC):c.4928-4C>G
|
rs774816687
|
0.00002
|
|
NM_001458.5(FLNC):c.5124G>A (p.Ala1708=)
|
rs764707313
|
0.00002
|
|
NM_001458.5(FLNC):c.512A>G (p.Asn171Ser)
|
rs757824715
|
0.00002
|
|
NM_001458.5(FLNC):c.5156G>A (p.Arg1719His)
|
rs746777092
|
0.00002
|
|
NM_001458.5(FLNC):c.5160C>T (p.Phe1720=)
|
rs562101000
|
0.00002
|
|
NM_001458.5(FLNC):c.5200-17G>A
|
rs377225258
|
0.00002
|
|
NM_001458.5(FLNC):c.5200-9C>T
|
rs777290470
|
0.00002
|
|
NM_001458.5(FLNC):c.5257C>A (p.Pro1753Thr)
|
rs573399358
|
0.00002
|
|
NM_001458.5(FLNC):c.5278G>A (p.Gly1760Ser)
|
rs150986092
|
0.00002
|
|
NM_001458.5(FLNC):c.5298+7C>T
|
rs773294846
|
0.00002
|
|
NM_001458.5(FLNC):c.5299-14C>T
|
rs754663125
|
0.00002
|
|
NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val)
|
rs200233856
|
0.00002
|
|
NM_001458.5(FLNC):c.5376G>A (p.Ala1792=)
|
rs758648462
|
0.00002
|
|
NM_001458.5(FLNC):c.5388G>C (p.Gly1796=)
|
rs371633189
|
0.00002
|
|
NM_001458.5(FLNC):c.5407C>T (p.Arg1803Trp)
|
rs369457426
|
0.00002
|
|
NM_001458.5(FLNC):c.5408G>A (p.Arg1803Gln)
|
rs757482925
|
0.00002
|
|
NM_001458.5(FLNC):c.5412G>A (p.Met1804Ile)
|
rs564010656
|
0.00002
|
|
NM_001458.5(FLNC):c.548G>A (p.Arg183His)
|
rs747837803
|
0.00002
|
|
NM_001458.5(FLNC):c.5579G>A (p.Arg1860His)
|
rs1019973830
|
0.00002
|
|
NM_001458.5(FLNC):c.5580C>G (p.Arg1860=)
|
rs955205184
|
0.00002
|
|
NM_001458.5(FLNC):c.558G>A (p.Gln186=)
|
rs532206394
|
0.00002
|
|
NM_001458.5(FLNC):c.5657A>G (p.Asp1886Gly)
|
rs771960952
|
0.00002
|
|
NM_001458.5(FLNC):c.5668+4A>C
|
rs1259876470
|
0.00002
|
|
NM_001458.5(FLNC):c.5669-10C>T
|
rs371394538
|
0.00002
|
|
NM_001458.5(FLNC):c.5746G>A (p.Val1916Met)
|
rs763551371
|
0.00002
|
|
NM_001458.5(FLNC):c.576C>T (p.Gly192=)
|
rs554658261
|
0.00002
|
|
NM_001458.5(FLNC):c.5826C>T (p.Phe1942=)
|
rs567779611
|
0.00002
|
|
NM_001458.5(FLNC):c.6004+6C>T
|
rs761548420
|
0.00002
|
|
NM_001458.5(FLNC):c.6030C>T (p.Val2010=)
|
rs375957769
|
0.00002
|
|
NM_001458.5(FLNC):c.6041T>C (p.Val2014Ala)
|
rs765064363
|
0.00002
|
|
NM_001458.5(FLNC):c.6053G>A (p.Arg2018His)
|
rs764326184
|
0.00002
|
|
NM_001458.5(FLNC):c.6121G>C (p.Ala2041Pro)
|
rs745842738
|
0.00002
|
|
NM_001458.5(FLNC):c.6156C>T (p.Ser2052=)
|
rs199750173
|
0.00002
|
|
NM_001458.5(FLNC):c.6209-3C>G
|
rs896971028
|
0.00002
|
|
NM_001458.5(FLNC):c.6209-4C>T
|
rs752959773
|
0.00002
|
|
NM_001458.5(FLNC):c.6280G>A (p.Gly2094Arg)
|
rs188476936
|
0.00002
|
|
NM_001458.5(FLNC):c.6283A>G (p.Thr2095Ala)
|
rs373022507
|
0.00002
|
|
NM_001458.5(FLNC):c.6315C>T (p.Pro2105=)
|
rs764435558
|
0.00002
|
|
NM_001458.5(FLNC):c.6325A>G (p.Ile2109Val)
|
rs755736125
|
0.00002
|
|
NM_001458.5(FLNC):c.6419G>A (p.Arg2140Gln)
|
rs368662317
|
0.00002
|
|
NM_001458.5(FLNC):c.6563C>T (p.Thr2188Met)
|
rs769574342
|
0.00002
|
|
NM_001458.5(FLNC):c.6564G>A (p.Thr2188=)
|
rs775348656
|
0.00002
|
|
NM_001458.5(FLNC):c.6588G>A (p.Thr2196=)
|
rs750190004
|
0.00002
|
|
NM_001458.5(FLNC):c.6593G>A (p.Gly2198Asp)
|
rs909093665
|
0.00002
|
|
NM_001458.5(FLNC):c.6727+10G>A
|
rs776420317
|
0.00002
|
|
NM_001458.5(FLNC):c.6727+3G>A
|
rs771664894
|
0.00002
|
|
NM_001458.5(FLNC):c.6773C>T (p.Ser2258Leu)
|
rs762051422
|
0.00002
|
|
NM_001458.5(FLNC):c.6774G>A (p.Ser2258=)
|
rs767691386
|
0.00002
|
|
NM_001458.5(FLNC):c.6777C>A (p.Gly2259=)
|
rs1057161787
|
0.00002
|
|
NM_001458.5(FLNC):c.6861G>A (p.Thr2287=)
|
rs773130088
|
0.00002
|
|
NM_001458.5(FLNC):c.6923C>T (p.Pro2308Leu)
|
rs369250297
|
0.00002
|
|
NM_001458.5(FLNC):c.6975G>A (p.Glu2325=)
|
rs778823809
|
0.00002
|
|
NM_001458.5(FLNC):c.6986C>G (p.Ala2329Gly)
|
rs746991573
|
0.00002
|
|
NM_001458.5(FLNC):c.7215G>A (p.Ser2405=)
|
rs774019775
|
0.00002
|
|
NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys)
|
rs750686083
|
0.00002
|
|
NM_001458.5(FLNC):c.7251+20G>T
|
rs758879860
|
0.00002
|
|
NM_001458.5(FLNC):c.7251+4T>G
|
rs1389522053
|
0.00002
|
|
NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln)
|
rs201762568
|
0.00002
|
|
NM_001458.5(FLNC):c.7315G>A (p.Val2439Met)
|
rs752667511
|
0.00002
|
|
NM_001458.5(FLNC):c.732C>T (p.Asn244=)
|
rs566461523
|
0.00002
|
|
NM_001458.5(FLNC):c.7382G>A (p.Ser2461Asn)
|
rs550547714
|
0.00002
|
|
NM_001458.5(FLNC):c.7384+15C>T
|
rs775641997
|
0.00002
|
|
NM_001458.5(FLNC):c.7529C>T (p.Ala2510Val)
|
rs1809086035
|
0.00002
|
|
NM_001458.5(FLNC):c.7546G>A (p.Glu2516Lys)
|
rs373691962
|
0.00002
|
|
NM_001458.5(FLNC):c.7589C>A (p.Thr2530Asn)
|
rs766492460
|
0.00002
|
|
NM_001458.5(FLNC):c.7651G>C (p.Asp2551His)
|
rs1187923021
|
0.00002
|
|
NM_001458.5(FLNC):c.7658G>A (p.Arg2553Gln)
|
rs375213102
|
0.00002
|
|
NM_001458.5(FLNC):c.7666C>T (p.Pro2556Ser)
|
rs765967888
|
0.00002
|
|
NM_001458.5(FLNC):c.7677T>C (p.His2559=)
|
rs200760961
|
0.00002
|
|
NM_001458.5(FLNC):c.7731C>T (p.Tyr2577=)
|
rs374072349
|
0.00002
|
|
NM_001458.5(FLNC):c.7784C>T (p.Pro2595Leu)
|
rs756144972
|
0.00002
|
|
NM_001458.5(FLNC):c.7812C>T (p.His2604=)
|
rs770653559
|
0.00002
|
|
NM_001458.5(FLNC):c.7972G>A (p.Val2658Met)
|
rs1269145751
|
0.00002
|
|
NM_001458.5(FLNC):c.7990+11G>C
|
rs779393533
|
0.00002
|
|
NM_001458.5(FLNC):c.8070G>T (p.Arg2690=)
|
rs373087529
|
0.00002
|
|
NM_001458.5(FLNC):c.8073G>A (p.Val2691=)
|
rs577664185
|
0.00002
|
|
NM_001458.5(FLNC):c.874G>A (p.Val292Met)
|
rs1275499234
|
0.00002
|
|
NM_001458.5(FLNC):c.896C>T (p.Thr299Ile)
|
rs774743325
|
0.00002
|
|
NM_001458.5(FLNC):c.924C>T (p.Gly308=)
|
rs541392206
|
0.00002
|
|
NM_001458.5(FLNC):c.969+13C>T
|
rs774847804
|
0.00002
|
|
NM_001458.5(FLNC):c.977T>C (p.Val326Ala)
|
rs570010538
|
0.00002
|
|
NM_001843.4(CNTN1):c.1051C>T (p.Pro351Ser)
|
rs769193585
|
0.00002
|
|
NM_001843.4(CNTN1):c.1140T>A (p.Asp380Glu)
|
rs768371907
|
0.00002
|
|
NM_001843.4(CNTN1):c.1158C>T (p.Ala386=)
|
rs74549636
|
0.00002
|
|
NM_001843.4(CNTN1):c.1255C>A (p.Pro419Thr)
|
rs758774084
|
0.00002
|
|
NM_001843.4(CNTN1):c.1281T>C (p.Ala427=)
|
rs536609686
|
0.00002
|
|
NM_001843.4(CNTN1):c.1631G>A (p.Gly544Asp)
|
rs773805932
|
0.00002
|
|
NM_001843.4(CNTN1):c.1664A>G (p.His555Arg)
|
rs761803826
|
0.00002
|
|
NM_001843.4(CNTN1):c.1691C>T (p.Ser564Phe)
|
rs374678549
|
0.00002
|
|
NM_001843.4(CNTN1):c.1842C>T (p.Asp614=)
|
rs371908420
|
0.00002
|
|
NM_001843.4(CNTN1):c.2038C>T (p.Arg680Cys)
|
rs1056153404
|
0.00002
|
|
NM_001843.4(CNTN1):c.2059C>T (p.Leu687=)
|
rs377022967
|
0.00002
|
|
NM_001843.4(CNTN1):c.2163A>G (p.Arg721=)
|
rs749748819
|
0.00002
|
|
NM_001843.4(CNTN1):c.2184+10G>A
|
rs1234947673
|
0.00002
|
|
NM_001843.4(CNTN1):c.2301T>C (p.Tyr767=)
|
rs760428485
|
0.00002
|
|
NM_001843.4(CNTN1):c.2325C>A (p.Ser775Arg)
|
rs538201110
|
0.00002
|
|
NM_001843.4(CNTN1):c.512G>A (p.Arg171His)
|
rs201037986
|
0.00002
|
|
NM_001843.4(CNTN1):c.565G>C (p.Val189Leu)
|
rs763318952
|
0.00002
|
|
NM_001843.4(CNTN1):c.760T>C (p.Leu254=)
|
rs755959346
|
0.00002
|
|
NM_001843.4(CNTN1):c.84T>C (p.Tyr28=)
|
rs772717194
|
0.00002
|
|
NM_001843.4(CNTN1):c.882T>C (p.Val294=)
|
rs760650497
|
0.00002
|
|
NM_001848.3(COL6A1):c.1002+15A>T
|
rs762495019
|
0.00002
|
|
NM_001848.3(COL6A1):c.1005G>T (p.Gly335=)
|
rs765321809
|
0.00002
|
|
NM_001848.3(COL6A1):c.102C>T (p.Cys34=)
|
rs373972331
|
0.00002
|
|
NM_001848.3(COL6A1):c.1060A>T (p.Ile354Phe)
|
rs1179596064
|
0.00002
|
|
NM_001848.3(COL6A1):c.1118A>T (p.Lys373Met)
|
rs1404246917
|
0.00002
|
|
NM_001848.3(COL6A1):c.1227G>A (p.Ala409=)
|
rs557250335
|
0.00002
|
|
NM_001848.3(COL6A1):c.1459G>A (p.Glu487Lys)
|
rs779320527
|
0.00002
|
|
NM_001848.3(COL6A1):c.1489G>A (p.Gly497Arg)
|
rs202109302
|
0.00002
|
|
NM_001848.3(COL6A1):c.1611+9G>A
|
rs186975997
|
0.00002
|
|
NM_001848.3(COL6A1):c.1617G>A (p.Thr539=)
|
rs753448235
|
0.00002
|
|
NM_001848.3(COL6A1):c.1668A>G (p.Gly556=)
|
rs746081979
|
0.00002
|
|
NM_001848.3(COL6A1):c.1745C>T (p.Pro582Leu)
|
rs766478019
|
0.00002
|
|
NM_001848.3(COL6A1):c.1814-18T>C
|
rs530360168
|
0.00002
|
|
NM_001848.3(COL6A1):c.1823-9C>T
|
rs398123633
|
0.00002
|
|
NM_001848.3(COL6A1):c.1911C>T (p.Phe637=)
|
rs552239546
|
0.00002
|
|
NM_001848.3(COL6A1):c.1915G>A (p.Val639Ile)
|
rs564072783
|
0.00002
|
|
NM_001848.3(COL6A1):c.1941G>A (p.Arg647=)
|
rs139914666
|
0.00002
|
|
NM_001848.3(COL6A1):c.1944C>T (p.Asp648=)
|
rs567731019
|
0.00002
|
|
NM_001848.3(COL6A1):c.1974G>A (p.Ser658=)
|
rs568596125
|
0.00002
|
|
NM_001848.3(COL6A1):c.1982G>A (p.Gly661Asp)
|
rs771702139
|
0.00002
|
|
NM_001848.3(COL6A1):c.2034C>T (p.Ser678=)
|
rs750801808
|
0.00002
|
|
NM_001848.3(COL6A1):c.2062A>C (p.Lys688Gln)
|
rs774361880
|
0.00002
|
|
NM_001848.3(COL6A1):c.2259C>T (p.Ser753=)
|
rs769069690
|
0.00002
|
|
NM_001848.3(COL6A1):c.2274C>T (p.Asp758=)
|
rs150780079
|
0.00002
|
|
NM_001848.3(COL6A1):c.228-18C>T
|
rs200537886
|
0.00002
|
|
NM_001848.3(COL6A1):c.2347C>T (p.Arg783Trp)
|
rs779362329
|
0.00002
|
|
NM_001848.3(COL6A1):c.2394G>C (p.Glu798Asp)
|
rs767361934
|
0.00002
|
|
NM_001848.3(COL6A1):c.2419G>A (p.Ala807Thr)
|
rs143925936
|
0.00002
|
|
NM_001848.3(COL6A1):c.2464+12G>A
|
rs757572847
|
0.00002
|
|
NM_001848.3(COL6A1):c.2465T>G (p.Ile822Ser)
|
rs780264446
|
0.00002
|
|
NM_001848.3(COL6A1):c.2507G>A (p.Gly836Asp)
|
rs794727582
|
0.00002
|
|
NM_001848.3(COL6A1):c.2569G>A (p.Glu857Lys)
|
rs570688674
|
0.00002
|
|
NM_001848.3(COL6A1):c.2585C>T (p.Ala862Val)
|
rs766944483
|
0.00002
|
|
NM_001848.3(COL6A1):c.2712C>T (p.Val904=)
|
rs780582491
|
0.00002
|
|
NM_001848.3(COL6A1):c.2713G>A (p.Asp905Asn)
|
rs149331149
|
0.00002
|
|
NM_001848.3(COL6A1):c.2751C>T (p.Asn917=)
|
rs767760988
|
0.00002
|
|
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser)
|
rs201835072
|
0.00002
|
|
NM_001848.3(COL6A1):c.2803G>A (p.Ala935Thr)
|
rs766416007
|
0.00002
|
|
NM_001848.3(COL6A1):c.2832T>C (p.Asp944=)
|
rs779665693
|
0.00002
|
|
NM_001848.3(COL6A1):c.2890C>T (p.Arg964Trp)
|
rs375007666
|
0.00002
|
|
NM_001848.3(COL6A1):c.2901C>T (p.Ile967=)
|
rs746750216
|
0.00002
|
|
NM_001848.3(COL6A1):c.2920G>A (p.Val974Met)
|
rs751999785
|
0.00002
|
|
NM_001848.3(COL6A1):c.2926C>T (p.Arg976Cys)
|
rs376061269
|
0.00002
|
|
NM_001848.3(COL6A1):c.2947A>G (p.Ile983Val)
|
rs758399765
|
0.00002
|
|
NM_001848.3(COL6A1):c.2952C>T (p.Arg984=)
|
rs770653887
|
0.00002
|
|
NM_001848.3(COL6A1):c.2953G>A (p.Val985Ile)
|
rs781394145
|
0.00002
|
|
NM_001848.3(COL6A1):c.2963C>G (p.Thr988Ser)
|
rs746046225
|
0.00002
|
|
NM_001848.3(COL6A1):c.2964C>T (p.Thr988=)
|
rs769881364
|
0.00002
|
|
NM_001848.3(COL6A1):c.2986G>A (p.Val996Met)
|
rs764765574
|
0.00002
|
|
NM_001848.3(COL6A1):c.3041G>A (p.Arg1014His)
|
rs369764291
|
0.00002
|
|
NM_001848.3(COL6A1):c.312G>A (p.Thr104=)
|
rs1364102125
|
0.00002
|
|
NM_001848.3(COL6A1):c.325G>A (p.Gly109Ser)
|
rs368580280
|
0.00002
|
|
NM_001848.3(COL6A1):c.331G>A (p.Asp111Asn)
|
rs1309822720
|
0.00002
|
|
NM_001848.3(COL6A1):c.352G>A (p.Asp118Asn)
|
rs747665716
|
0.00002
|
|
NM_001848.3(COL6A1):c.554A>G (p.Lys185Arg)
|
rs754667407
|
0.00002
|
|
NM_001848.3(COL6A1):c.556G>C (p.Val186Leu)
|
rs886042409
|
0.00002
|
|
NM_001848.3(COL6A1):c.57G>A (p.Ala19=)
|
rs1172820789
|
0.00002
|
|
NM_001848.3(COL6A1):c.588+14C>A
|
rs983091594
|
0.00002
|
|
NM_001848.3(COL6A1):c.607A>G (p.Ile203Val)
|
rs886044481
|
0.00002
|
|
NM_001848.3(COL6A1):c.623C>T (p.Thr208Met)
|
rs372199631
|
0.00002
|
|
NM_001848.3(COL6A1):c.628C>T (p.Arg210Trp)
|
rs950115468
|
0.00002
|
|
NM_001848.3(COL6A1):c.717C>T (p.Ile239=)
|
rs775349013
|
0.00002
|
|
NM_001848.3(COL6A1):c.74C>A (p.Thr25Asn)
|
rs767205402
|
0.00002
|
|
NM_001848.3(COL6A1):c.759+11C>T
|
rs746763159
|
0.00002
|
|
NM_001848.3(COL6A1):c.794C>T (p.Pro265Leu)
|
rs757230924
|
0.00002
|
|
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu)
|
rs201093313
|
0.00002
|
|
NM_001848.3(COL6A1):c.931-4G>A
|
rs758332867
|
0.00002
|
|
NM_001848.3(COL6A1):c.958-9G>A
|
rs375638855
|
0.00002
|
|
NM_001849.4(COL6A2):c.1000-6C>T
|
rs761428568
|
0.00002
|
|
NM_001849.4(COL6A2):c.1011G>A (p.Gly337=)
|
rs760596115
|
0.00002
|
|
NM_001849.4(COL6A2):c.1051C>T (p.Arg351Trp)
|
rs531146637
|
0.00002
|
|
NM_001849.4(COL6A2):c.1053+10G>A
|
rs377311004
|
0.00002
|
|
NM_001849.4(COL6A2):c.1117-14G>A
|
rs768473305
|
0.00002
|
|
NM_001849.4(COL6A2):c.1118G>C (p.Gly373Ala)
|
rs773528946
|
0.00002
|
|
NM_001849.4(COL6A2):c.115+20G>A
|
rs767925731
|
0.00002
|
|
NM_001849.4(COL6A2):c.115+2T>C
|
rs770842374
|
0.00002
|
|
NM_001849.4(COL6A2):c.1236C>T (p.Gly412=)
|
rs752255976
|
0.00002
|
|
NM_001849.4(COL6A2):c.123C>T (p.Thr41=)
|
rs766840536
|
0.00002
|
|
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)
|
rs200167715
|
0.00002
|
|
NM_001849.4(COL6A2):c.1270-16C>T
|
rs548690364
|
0.00002
|
|
NM_001849.4(COL6A2):c.1270-3C>T
|
rs1488223613
|
0.00002
|
|
NM_001849.4(COL6A2):c.1274G>A (p.Arg425His)
|
rs773161640
|
0.00002
|
|
NM_001849.4(COL6A2):c.1496G>A (p.Gly499Glu)
|
rs886042332
|
0.00002
|
|
NM_001849.4(COL6A2):c.1518C>T (p.Pro506=)
|
rs767192013
|
0.00002
|
|
NM_001849.4(COL6A2):c.161C>T (p.Ser54Leu)
|
rs1252515693
|
0.00002
|
|
NM_001849.4(COL6A2):c.1666G>A (p.Glu556Lys)
|
rs368878639
|
0.00002
|
|
NM_001849.4(COL6A2):c.168C>T (p.Ser56=)
|
rs749106470
|
0.00002
|
|
NM_001849.4(COL6A2):c.1732G>A (p.Glu578Lys)
|
rs771658013
|
0.00002
|
|
NM_001849.4(COL6A2):c.1776T>C (p.Cys592=)
|
rs748153892
|
0.00002
|
|
NM_001849.4(COL6A2):c.1807G>A (p.Gly603Arg)
|
rs757603350
|
0.00002
|
|
NM_001849.4(COL6A2):c.181T>C (p.Ser61Pro)
|
rs990733473
|
0.00002
|
|
NM_001849.4(COL6A2):c.1828C>T (p.Arg610Cys)
|
rs748283415
|
0.00002
|
|
NM_001849.4(COL6A2):c.1920C>T (p.Asn640=)
|
rs143819480
|
0.00002
|
|
NM_001849.4(COL6A2):c.1937G>A (p.Gly646Asp)
|
rs752366811
|
0.00002
|
|
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)
|
rs142002945
|
0.00002
|
|
NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu)
|
rs564873527
|
0.00002
|
|
NM_001849.4(COL6A2):c.2055G>A (p.Ser685=)
|
rs752648726
|
0.00002
|
|
NM_001849.4(COL6A2):c.2217C>T (p.Asp739=)
|
rs374795477
|
0.00002
|
|
NM_001849.4(COL6A2):c.2248C>T (p.Arg750Cys)
|
rs200709432
|
0.00002
|
|
NM_001849.4(COL6A2):c.2250C>T (p.Arg750=)
|
rs200096552
|
0.00002
|
|
NM_001849.4(COL6A2):c.2253C>T (p.Asp751=)
|
rs747494120
|
0.00002
|
|
NM_001849.4(COL6A2):c.2271C>T (p.Ile757=)
|
rs771683876
|
0.00002
|
|
NM_001849.4(COL6A2):c.229T>C (p.Phe77Leu)
|
rs199736749
|
0.00002
|
|
NM_001849.4(COL6A2):c.2326G>A (p.Ala776Thr)
|
rs759293889
|
0.00002
|
|
NM_001849.4(COL6A2):c.2349G>A (p.Val783=)
|
rs886044418
|
0.00002
|
|
NM_001849.4(COL6A2):c.2409C>T (p.Asp803=)
|
rs745800327
|
0.00002
|
|
NM_001849.4(COL6A2):c.2420C>T (p.Pro807Leu)
|
rs768417049
|
0.00002
|
|
NM_001849.4(COL6A2):c.2698G>A (p.Ala900Thr)
|
rs768339045
|
0.00002
|
|
NM_001849.4(COL6A2):c.273G>A (p.Ala91=)
|
rs753168760
|
0.00002
|
|
NM_001849.4(COL6A2):c.2749G>A (p.Val917Met)
|
rs145381639
|
0.00002
|
|
NM_001849.4(COL6A2):c.2780C>G (p.Ala927Gly)
|
rs11554668
|
0.00002
|
|
NM_001849.4(COL6A2):c.2788C>T (p.Arg930Cys)
|
rs886057168
|
0.00002
|
|
NM_001849.4(COL6A2):c.2789G>A (p.Arg930His)
|
rs762812372
|
0.00002
|
|
NM_001849.4(COL6A2):c.2828C>G (p.Ser943Cys)
|
rs372022187
|
0.00002
|
|
NM_001849.4(COL6A2):c.2884C>G (p.His962Asp)
|
rs373184224
|
0.00002
|
|
NM_001849.4(COL6A2):c.2892G>A (p.Met964Ile)
|
rs747174626
|
0.00002
|
|
NM_001849.4(COL6A2):c.2950G>A (p.Val984Met)
|
rs752700701
|
0.00002
|
|
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys)
|
rs532656197
|
0.00002
|
|
NM_001849.4(COL6A2):c.3047G>A (p.Arg1016His)
|
rs376368468
|
0.00002
|
|
NM_001849.4(COL6A2):c.436C>T (p.Arg146Trp)
|
rs762263982
|
0.00002
|
|
NM_001849.4(COL6A2):c.460G>A (p.Val154Ile)
|
rs751410120
|
0.00002
|
|
NM_001849.4(COL6A2):c.487G>A (p.Gly163Ser)
|
rs769456044
|
0.00002
|
|
NM_001849.4(COL6A2):c.557G>A (p.Arg186Gln)
|
rs376291264
|
0.00002
|
|
NM_001849.4(COL6A2):c.735+10G>A
|
rs748325597
|
0.00002
|
|
NM_001849.4(COL6A2):c.790C>T (p.Arg264Cys)
|
rs760263812
|
0.00002
|
|
NM_001849.4(COL6A2):c.817A>T (p.Met273Leu)
|
rs763922121
|
0.00002
|
|
NM_001849.4(COL6A2):c.827C>T (p.Pro276Leu)
|
rs757488307
|
0.00002
|
|
NM_001849.4(COL6A2):c.900+13G>A
|
rs767295307
|
0.00002
|
|
NM_001849.4(COL6A2):c.928-10T>A
|
rs747608945
|
0.00002
|
|
NM_001849.4(COL6A2):c.93C>T (p.Thr31=)
|
rs953778915
|
0.00002
|
|
NM_001849.4(COL6A2):c.94G>A (p.Glu32Lys)
|
rs547648292
|
0.00002
|
|
NM_001849.4(COL6A2):c.954+5G>C
|
rs750755566
|
0.00002
|
|
NM_001927.4(DES):c.1008C>T (p.Asp336=)
|
rs531293539
|
0.00002
|
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
|
NM_001927.4(DES):c.1049G>A (p.Arg350Gln)
|
rs57965306
|
0.00002
|
|
NM_001927.4(DES):c.1099A>C (p.Ile367Leu)
|
rs62636494
|
0.00002
|
|
NM_001927.4(DES):c.1116G>A (p.Glu372=)
|
rs752030448
|
0.00002
|
|
NM_001927.4(DES):c.1280A>G (p.Asn427Ser)
|
rs142712150
|
0.00002
|
|
NM_001927.4(DES):c.1288+1G>A
|
rs112224037
|
0.00002
|
|
NM_001927.4(DES):c.1325C>A (p.Thr442Asn)
|
rs121913005
|
0.00002
|
|
NM_001927.4(DES):c.167T>A (p.Val56Glu)
|
rs1170549656
|
0.00002
|
|
NM_001927.4(DES):c.184G>A (p.Gly62Arg)
|
rs886044090
|
0.00002
|
|
NM_001927.4(DES):c.188C>A (p.Ala63Asp)
|
rs1345937895
|
0.00002
|
|
NM_001927.4(DES):c.196C>A (p.Leu66Met)
|
rs1320380570
|
0.00002
|
|
NM_001927.4(DES):c.199G>A (p.Gly67Arg)
|
rs753419517
|
0.00002
|
|
NM_001927.4(DES):c.212C>T (p.Ala71Val)
|
rs759235186
|
0.00002
|
|
NM_001927.4(DES):c.258C>G (p.Gly86=)
|
rs994454109
|
0.00002
|
|
NM_001927.4(DES):c.295C>G (p.Gln99Glu)
|
rs794728992
|
0.00002
|
|
NM_001927.4(DES):c.40T>C (p.Tyr14His)
|
rs750819338
|
0.00002
|
|
NM_001927.4(DES):c.414C>G (p.Ala138=)
|
rs1445220768
|
0.00002
|
|
NM_001927.4(DES):c.489G>A (p.Arg163=)
|
rs1448975712
|
0.00002
|
|
NM_001927.4(DES):c.566G>A (p.Arg189Gln)
|
rs1025323214
|
0.00002
|
|
NM_001927.4(DES):c.609A>C (p.Glu203Asp)
|
rs369495436
|
0.00002
|
|
NM_001927.4(DES):c.639G>A (p.Ala213=)
|
rs377337947
|
0.00002
|
|
NM_001927.4(DES):c.680G>A (p.Arg227His)
|
rs141486420
|
0.00002
|
|
NM_001927.4(DES):c.690A>G (p.Glu230=)
|
rs142145822
|
0.00002
|
|
NM_001927.4(DES):c.708C>T (p.Ile236=)
|
rs886044078
|
0.00002
|
|
NM_001927.4(DES):c.728A>G (p.His243Arg)
|
rs1410266369
|
0.00002
|
|
NM_001927.4(DES):c.897+13G>A
|
rs201433470
|
0.00002
|
|
NM_001927.4(DES):c.933C>T (p.Asn311=)
|
rs756434148
|
0.00002
|
|
NM_001927.4(DES):c.993C>T (p.Tyr331=)
|
rs200858541
|
0.00002
|
|
NM_002469.3(MYF6):c.281G>A (p.Arg94Gln)
|
rs201273759
|
0.00002
|
|
NM_002469.3(MYF6):c.331G>C (p.Glu111Gln)
|
rs773695133
|
0.00002
|
|
NM_002469.3(MYF6):c.355C>A (p.Arg119=)
|
rs766453673
|
0.00002
|
|
NM_002469.3(MYF6):c.623T>C (p.Ile208Thr)
|
rs766941896
|
0.00002
|
|
NM_003283.6(TNNT1):c.128+9C>T
|
rs776650179
|
0.00002
|
|
NM_003283.6(TNNT1):c.256T>G (p.Phe86Val)
|
rs1222022158
|
0.00002
|
|
NM_003283.6(TNNT1):c.611+10G>A
|
rs370899653
|
0.00002
|
|
NM_003283.6(TNNT1):c.700G>A (p.Glu234Lys)
|
rs1188124969
|
0.00002
|
|
NM_003283.6(TNNT1):c.73+15T>G
|
rs759885491
|
0.00002
|
|
NM_003283.6(TNNT1):c.756C>T (p.Asn252=)
|
rs61737472
|
0.00002
|
|
NM_003283.6(TNNT1):c.769C>T (p.Arg257Cys)
|
rs774943217
|
0.00002
|
|
NM_003283.6(TNNT1):c.793C>T (p.Arg265Trp)
|
rs765317516
|
0.00002
|
|
NM_004168.4(SDHA):c.109G>A (p.Val37Ile)
|
rs758426529
|
0.00002
|
|
NM_004168.4(SDHA):c.1134G>A (p.Thr378=)
|
rs370002515
|
0.00002
|
|
NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys)
|
rs749309213
|
0.00002
|
|
NM_004168.4(SDHA):c.1136G>A (p.Arg379His)
|
rs770719847
|
0.00002
|
|
NM_004168.4(SDHA):c.1146C>A (p.Gly382=)
|
rs768947225
|
0.00002
|
|
NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr)
|
rs376597185
|
0.00002
|
|
NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp)
|
rs1355851620
|
0.00002
|
|
NM_004168.4(SDHA):c.1257G>A (p.Gly419=)
|
rs753410011
|
0.00002
|
|
NM_004168.4(SDHA):c.1350C>T (p.Asn450=)
|
rs533902090
|
0.00002
|
|
NM_004168.4(SDHA):c.1353C>G (p.Arg451=)
|
rs555342133
|
0.00002
|
|
NM_004168.4(SDHA):c.1356C>T (p.Leu452=)
|
rs748496836
|
0.00002
|
|
NM_004168.4(SDHA):c.1357G>A (p.Gly453Arg)
|
rs770028533
|
0.00002
|
|
NM_004168.4(SDHA):c.1394G>A (p.Arg465Gln)
|
rs138277996
|
0.00002
|
|
NM_004168.4(SDHA):c.1419G>A (p.Glu473=)
|
rs898003329
|
0.00002
|
|
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg)
|
rs781747137
|
0.00002
|
|
NM_004168.4(SDHA):c.1432+12C>T
|
rs377104463
|
0.00002
|
|
NM_004168.4(SDHA):c.1433-10T>C
|
rs1214392431
|
0.00002
|
|
NM_004168.4(SDHA):c.1493A>G (p.Lys498Arg)
|
rs745592653
|
0.00002
|
|
NM_004168.4(SDHA):c.150+5G>T
|
rs770610694
|
0.00002
|
|
NM_004168.4(SDHA):c.150C>T (p.Ser50=)
|
rs140264486
|
0.00002
|
|
NM_004168.4(SDHA):c.1518A>G (p.Ile506Met)
|
rs955444699
|
0.00002
|
|
NM_004168.4(SDHA):c.1551+17G>A
|
rs376232883
|
0.00002
|
|
NM_004168.4(SDHA):c.1552-9G>A
|
rs765624219
|
0.00002
|
|
NM_004168.4(SDHA):c.1580G>A (p.Arg527His)
|
rs766352407
|
0.00002
|
|
NM_004168.4(SDHA):c.1603G>T (p.Gly535Cys)
|
rs777622021
|
0.00002
|
|
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)
|
rs181238392
|
0.00002
|
|
NM_004168.4(SDHA):c.1656C>T (p.Phe552=)
|
rs1170030451
|
0.00002
|
|
NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn)
|
rs769882609
|
0.00002
|
|
NM_004168.4(SDHA):c.1664-16C>G
|
rs763374204
|
0.00002
|
|
NM_004168.4(SDHA):c.1671C>A (p.Val557=)
|
rs767963713
|
0.00002
|
|
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met)
|
rs775350508
|
0.00002
|
|
NM_004168.4(SDHA):c.16G>A (p.Gly6Ser)
|
rs1352756438
|
0.00002
|
|
NM_004168.4(SDHA):c.1725G>A (p.Ala575=)
|
rs758252610
|
0.00002
|
|
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro)
|
rs1318046349
|
0.00002
|
|
NM_004168.4(SDHA):c.1737C>T (p.Ile579=)
|
rs201454617
|
0.00002
|
|
NM_004168.4(SDHA):c.1740C>T (p.Tyr580=)
|
rs3181540
|
0.00002
|
|
NM_004168.4(SDHA):c.1750G>A (p.Ala584Thr)
|
rs878854629
|
0.00002
|
|
NM_004168.4(SDHA):c.1755G>A (p.Arg585=)
|
rs760254364
|
0.00002
|
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
|
NM_004168.4(SDHA):c.1909-5T>C
|
rs1197849830
|
0.00002
|
|
NM_004168.4(SDHA):c.1950C>T (p.Asn650=)
|
rs1042430
|
0.00002
|
|
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr)
|
rs575617625
|
0.00002
|
|
NM_004168.4(SDHA):c.447C>T (p.Ala149=)
|
rs752187837
|
0.00002
|
|
NM_004168.4(SDHA):c.456+17T>C
|
rs1350429949
|
0.00002
|
|
NM_004168.4(SDHA):c.464A>G (p.Asn155Ser)
|
rs749824479
|
0.00002
|
|
NM_004168.4(SDHA):c.476C>T (p.Pro159Leu)
|
rs759827541
|
0.00002
|
|
NM_004168.4(SDHA):c.597G>A (p.Ser199=)
|
rs141874250
|
0.00002
|
|
NM_004168.4(SDHA):c.598C>T (p.Leu200=)
|
rs764307917
|
0.00002
|
|
NM_004168.4(SDHA):c.621+14C>T
|
rs776301796
|
0.00002
|
|
NM_004168.4(SDHA):c.621+15G>A
|
rs747737117
|
0.00002
|
|
NM_004168.4(SDHA):c.63+8C>T
|
rs766358430
|
0.00002
|
|
NM_004168.4(SDHA):c.809A>T (p.His270Leu)
|
rs1381228775
|
0.00002
|
|
NM_004168.4(SDHA):c.825C>T (p.Asp275=)
|
rs1237373391
|
0.00002
|
|
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser)
|
rs751008647
|
0.00002
|
|
NM_004168.4(SDHA):c.963T>C (p.Ser321=)
|
rs755235011
|
0.00002
|
|
NM_004281.4(BAG3):c.1020A>G (p.Gln340=)
|
rs781187541
|
0.00002
|
|
NM_004281.4(BAG3):c.102C>G (p.Thr34=)
|
rs145934400
|
0.00002
|
|
NM_004281.4(BAG3):c.1034A>T (p.Glu345Val)
|
rs189646603
|
0.00002
|
|
NM_004281.4(BAG3):c.1064C>T (p.Pro355Leu)
|
rs1227175290
|
0.00002
|
|
NM_004281.4(BAG3):c.1096G>C (p.Val366Leu)
|
rs1215731985
|
0.00002
|
|
NM_004281.4(BAG3):c.1150C>T (p.Pro384Ser)
|
rs1286082290
|
0.00002
|
|
NM_004281.4(BAG3):c.1163A>G (p.Lys388Arg)
|
rs1405607704
|
0.00002
|
|
NM_004281.4(BAG3):c.1239C>T (p.Ala413=)
|
rs201137108
|
0.00002
|
|
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys)
|
rs778496291
|
0.00002
|
|
NM_004281.4(BAG3):c.1528C>T (p.Leu510Phe)
|
rs771188059
|
0.00002
|
|
NM_004281.4(BAG3):c.1558C>T (p.Pro520Ser)
|
rs760699965
|
0.00002
|
|
NM_004281.4(BAG3):c.1578G>T (p.Glu526Asp)
|
rs777325497
|
0.00002
|
|
NM_004281.4(BAG3):c.1673C>T (p.Ala558Val)
|
rs185537639
|
0.00002
|
|
NM_004281.4(BAG3):c.318G>T (p.Arg106=)
|
rs750075933
|
0.00002
|
|
NM_004281.4(BAG3):c.378G>A (p.Ala126=)
|
rs753235577
|
0.00002
|
|
NM_004281.4(BAG3):c.386C>T (p.Ala129Val)
|
rs876657747
|
0.00002
|
|
NM_004281.4(BAG3):c.494C>T (p.Ser165Phe)
|
rs143756613
|
0.00002
|
|
NM_004281.4(BAG3):c.668C>G (p.Pro223Arg)
|
rs754615028
|
0.00002
|
|
NM_004281.4(BAG3):c.698A>G (p.Tyr233Cys)
|
rs1415830597
|
0.00002
|
|
NM_004281.4(BAG3):c.705G>A (p.Ala235=)
|
rs141328836
|
0.00002
|
|
NM_004281.4(BAG3):c.714G>A (p.Gly238=)
|
rs377183466
|
0.00002
|
|
NM_004281.4(BAG3):c.715G>A (p.Glu239Lys)
|
rs148544471
|
0.00002
|
|
NM_004281.4(BAG3):c.897C>T (p.Val299=)
|
rs763915884
|
0.00002
|
|
NM_004281.4(BAG3):c.943T>A (p.Ser315Thr)
|
rs761417402
|
0.00002
|
|
NM_004281.4(BAG3):c.967A>G (p.Ser323Gly)
|
rs765875627
|
0.00002
|
|
NM_004281.4(BAG3):c.983T>C (p.Val328Ala)
|
rs765627299
|
0.00002
|
|
NM_004369.4(COL6A3):c.1069C>A (p.Pro357Thr)
|
rs1174559820
|
0.00002
|
|
NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=)
|
rs548519047
|
0.00002
|
|
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys)
|
rs112817175
|
0.00002
|
|
NM_004369.4(COL6A3):c.1293G>A (p.Pro431=)
|
rs376912950
|
0.00002
|
|
NM_004369.4(COL6A3):c.1394G>A (p.Arg465Gln)
|
rs781231935
|
0.00002
|
|
NM_004369.4(COL6A3):c.1530C>T (p.Thr510=)
|
rs373281009
|
0.00002
|
|
NM_004369.4(COL6A3):c.1571A>G (p.Tyr524Cys)
|
rs147546808
|
0.00002
|
|
NM_004369.4(COL6A3):c.1575G>A (p.Thr525=)
|
rs749452623
|
0.00002
|
|
NM_004369.4(COL6A3):c.1594G>A (p.Val532Ile)
|
rs757748748
|
0.00002
|
|
NM_004369.4(COL6A3):c.1597C>T (p.Arg533Cys)
|
rs751952844
|
0.00002
|
|
NM_004369.4(COL6A3):c.1605C>T (p.Asn535=)
|
rs763426415
|
0.00002
|
|
NM_004369.4(COL6A3):c.1857C>T (p.Gly619=)
|
rs776665419
|
0.00002
|
|
NM_004369.4(COL6A3):c.1897+11G>A
|
rs780688368
|
0.00002
|
|
NM_004369.4(COL6A3):c.1897+3A>G
|
rs369549597
|
0.00002
|
|
NM_004369.4(COL6A3):c.1920C>A (p.Ile640=)
|
rs988504831
|
0.00002
|
|
NM_004369.4(COL6A3):c.2059C>T (p.Pro687Ser)
|
rs750291186
|
0.00002
|
|
NM_004369.4(COL6A3):c.2189A>G (p.His730Arg)
|
rs760976593
|
0.00002
|
|
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=)
|
rs768242367
|
0.00002
|
|
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=)
|
rs561804945
|
0.00002
|
|
NM_004369.4(COL6A3):c.2350G>A (p.Ala784Thr)
|
rs765006452
|
0.00002
|
|
NM_004369.4(COL6A3):c.237T>C (p.Ala79=)
|
rs747312241
|
0.00002
|
|
NM_004369.4(COL6A3):c.267C>T (p.Thr89=)
|
rs757243408
|
0.00002
|
|
NM_004369.4(COL6A3):c.2756C>T (p.Ala919Val)
|
rs115327470
|
0.00002
|
|
NM_004369.4(COL6A3):c.2757G>A (p.Ala919=)
|
rs115874872
|
0.00002
|
|
NM_004369.4(COL6A3):c.2804G>A (p.Arg935Gln)
|
rs762016120
|
0.00002
|
|
NM_004369.4(COL6A3):c.2902G>A (p.Val968Ile)
|
rs202122047
|
0.00002
|
|
NM_004369.4(COL6A3):c.2907G>A (p.Val969=)
|
rs772894785
|
0.00002
|
|
NM_004369.4(COL6A3):c.2958C>T (p.Ile986=)
|
rs145203676
|
0.00002
|
|
NM_004369.4(COL6A3):c.2965T>C (p.Ser989Pro)
|
rs758482171
|
0.00002
|
|
NM_004369.4(COL6A3):c.3001A>G (p.Lys1001Glu)
|
rs977976932
|
0.00002
|
|
NM_004369.4(COL6A3):c.3187G>A (p.Asp1063Asn)
|
rs760543147
|
0.00002
|
|
NM_004369.4(COL6A3):c.3219C>T (p.Ser1073=)
|
rs747436841
|
0.00002
|
|
NM_004369.4(COL6A3):c.3228C>G (p.Thr1076=)
|
rs886042997
|
0.00002
|
|
NM_004369.4(COL6A3):c.3274G>A (p.Val1092Ile)
|
rs576798969
|
0.00002
|
|
NM_004369.4(COL6A3):c.3588C>T (p.Thr1196=)
|
rs1434102843
|
0.00002
|
|
NM_004369.4(COL6A3):c.3627C>A (p.Thr1209=)
|
rs1230310524
|
0.00002
|
|
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=)
|
rs542411896
|
0.00002
|
|
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met)
|
rs747082651
|
0.00002
|
|
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met)
|
rs541703064
|
0.00002
|
|
NM_004369.4(COL6A3):c.3831C>T (p.Ser1277=)
|
rs114110705
|
0.00002
|
|
NM_004369.4(COL6A3):c.3891C>T (p.Asn1297=)
|
rs200722316
|
0.00002
|
|
NM_004369.4(COL6A3):c.3923G>A (p.Arg1308Gln)
|
rs774461787
|
0.00002
|
|
NM_004369.4(COL6A3):c.4141A>T (p.Ile1381Phe)
|
rs750951694
|
0.00002
|
|
NM_004369.4(COL6A3):c.4170G>A (p.Ser1390=)
|
rs770489225
|
0.00002
|
|
NM_004369.4(COL6A3):c.4180T>C (p.Phe1394Leu)
|
rs746868834
|
0.00002
|
|
NM_004369.4(COL6A3):c.4339G>A (p.Val1447Ile)
|
rs749556880
|
0.00002
|
|
NM_004369.4(COL6A3):c.4404C>T (p.Ile1468=)
|
rs371075249
|
0.00002
|
|
NM_004369.4(COL6A3):c.453T>G (p.Asp151Glu)
|
rs759004319
|
0.00002
|
|
NM_004369.4(COL6A3):c.462G>A (p.Ser154=)
|
rs773051161
|
0.00002
|
|
NM_004369.4(COL6A3):c.467A>C (p.Asp156Ala)
|
rs150972216
|
0.00002
|
|
NM_004369.4(COL6A3):c.4765G>A (p.Asp1589Asn)
|
rs904372024
|
0.00002
|
|
NM_004369.4(COL6A3):c.4979G>A (p.Arg1660His)
|
rs982703428
|
0.00002
|
|
NM_004369.4(COL6A3):c.4994T>C (p.Ile1665Thr)
|
rs1034783532
|
0.00002
|
|
NM_004369.4(COL6A3):c.5118C>T (p.Ile1706=)
|
rs766291321
|
0.00002
|
|
NM_004369.4(COL6A3):c.523A>G (p.Ile175Val)
|
rs376501805
|
0.00002
|
|
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val)
|
rs140513454
|
0.00002
|
|
NM_004369.4(COL6A3):c.5395G>A (p.Val1799Met)
|
rs768420468
|
0.00002
|
|
NM_004369.4(COL6A3):c.5418C>T (p.Ser1806=)
|
rs398124123
|
0.00002
|
|
NM_004369.4(COL6A3):c.5528T>C (p.Phe1843Ser)
|
rs770876436
|
0.00002
|
|
NM_004369.4(COL6A3):c.5634C>T (p.Ser1878=)
|
rs770825082
|
0.00002
|
|
NM_004369.4(COL6A3):c.5868C>T (p.Asp1956=)
|
rs777508994
|
0.00002
|
|
NM_004369.4(COL6A3):c.5909G>A (p.Arg1970His)
|
rs368635334
|
0.00002
|
|
NM_004369.4(COL6A3):c.592T>G (p.Phe198Val)
|
rs754618002
|
0.00002
|
|
NM_004369.4(COL6A3):c.6036C>T (p.Asp2012=)
|
rs771602562
|
0.00002
|
|
NM_004369.4(COL6A3):c.6039G>A (p.Leu2013=)
|
rs748005373
|
0.00002
|
|
NM_004369.4(COL6A3):c.6044A>G (p.Tyr2015Cys)
|
rs768330671
|
0.00002
|
|
NM_004369.4(COL6A3):c.6068A>G (p.Asn2023Ser)
|
rs115320113
|
0.00002
|
|
NM_004369.4(COL6A3):c.6117G>C (p.Gln2039His)
|
rs750063736
|
0.00002
|
|
NM_004369.4(COL6A3):c.6128G>A (p.Arg2043His)
|
rs142090771
|
0.00002
|
|
NM_004369.4(COL6A3):c.6210C>T (p.Pro2070=)
|
rs774374140
|
0.00002
|
|
NM_004369.4(COL6A3):c.6342G>A (p.Leu2114=)
|
rs886043269
|
0.00002
|
|
NM_004369.4(COL6A3):c.6352G>T (p.Asp2118Tyr)
|
rs374476448
|
0.00002
|
|
NM_004369.4(COL6A3):c.6394A>T (p.Asn2132Tyr)
|
rs750889657
|
0.00002
|
|
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser)
|
rs781675126
|
0.00002
|
|
NM_004369.4(COL6A3):c.6425G>A (p.Arg2142Gln)
|
rs766968738
|
0.00002
|
|
NM_004369.4(COL6A3):c.6528C>T (p.Leu2176=)
|
rs560225578
|
0.00002
|
|
NM_004369.4(COL6A3):c.6730G>A (p.Glu2244Lys)
|
rs753307921
|
0.00002
|
|
NM_004369.4(COL6A3):c.6759C>T (p.Ser2253=)
|
rs375134458
|
0.00002
|
|
NM_004369.4(COL6A3):c.6957A>G (p.Pro2319=)
|
rs777752945
|
0.00002
|
|
NM_004369.4(COL6A3):c.6966+19G>T
|
rs369486630
|
0.00002
|
|
NM_004369.4(COL6A3):c.6998C>A (p.Thr2333Lys)
|
rs557578629
|
0.00002
|
|
NM_004369.4(COL6A3):c.7037C>T (p.Ser2346Leu)
|
rs377168716
|
0.00002
|
|
NM_004369.4(COL6A3):c.7103G>A (p.Gly2368Asp)
|
rs746420745
|
0.00002
|
|
NM_004369.4(COL6A3):c.7122C>T (p.Ile2374=)
|
rs747377101
|
0.00002
|
|
NM_004369.4(COL6A3):c.7177C>T (p.Pro2393Ser)
|
rs778720252
|
0.00002
|
|
NM_004369.4(COL6A3):c.7235G>A (p.Gly2412Glu)
|
rs776496050
|
0.00002
|
|
NM_004369.4(COL6A3):c.7259G>A (p.Arg2420Gln)
|
rs772077690
|
0.00002
|
|
NM_004369.4(COL6A3):c.7323G>A (p.Arg2441=)
|
rs1255913973
|
0.00002
|
|
NM_004369.4(COL6A3):c.7446C>G (p.Ser2482=)
|
rs1439207088
|
0.00002
|
|
NM_004369.4(COL6A3):c.7476G>A (p.Ser2492=)
|
rs150815991
|
0.00002
|
|
NM_004369.4(COL6A3):c.7491C>T (p.Asn2497=)
|
rs751097250
|
0.00002
|
|
NM_004369.4(COL6A3):c.760G>A (p.Gly254Arg)
|
rs571172347
|
0.00002
|
|
NM_004369.4(COL6A3):c.7777A>T (p.Ile2593Phe)
|
rs755107410
|
0.00002
|
|
NM_004369.4(COL6A3):c.8358C>T (p.Phe2786=)
|
rs113423040
|
0.00002
|
|
NM_004369.4(COL6A3):c.8393T>C (p.Val2798Ala)
|
rs749169391
|
0.00002
|
|
NM_004369.4(COL6A3):c.8432G>A (p.Arg2811His)
|
rs769656291
|
0.00002
|
|
NM_004369.4(COL6A3):c.8464+12G>A
|
rs199707923
|
0.00002
|
|
NM_004369.4(COL6A3):c.8511T>C (p.Asp2837=)
|
rs936115881
|
0.00002
|
|
NM_004369.4(COL6A3):c.8583C>T (p.Asn2861=)
|
rs375994186
|
0.00002
|
|
NM_004369.4(COL6A3):c.8646G>A (p.Pro2882=)
|
rs751922269
|
0.00002
|
|
NM_004369.4(COL6A3):c.8825C>T (p.Ala2942Val)
|
rs757146083
|
0.00002
|
|
NM_004369.4(COL6A3):c.8854G>A (p.Val2952Ile)
|
rs536607503
|
0.00002
|
|
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val)
|
rs563813743
|
0.00002
|
|
NM_004369.4(COL6A3):c.893C>T (p.Thr298Ile)
|
rs776043658
|
0.00002
|
|
NM_004369.4(COL6A3):c.8966-20C>T
|
rs557787842
|
0.00002
|
|
NM_004369.4(COL6A3):c.9041C>T (p.Pro3014Leu)
|
rs758774990
|
0.00002
|
|
NM_004369.4(COL6A3):c.92-12C>G
|
rs759990390
|
0.00002
|
|
NM_004369.4(COL6A3):c.9329-8T>C
|
rs770436782
|
0.00002
|
|
NM_004369.4(COL6A3):c.9380A>G (p.Lys3127Arg)
|
rs751270381
|
0.00002
|
|
NM_004369.4(COL6A3):c.972C>T (p.Leu324=)
|
rs761334907
|
0.00002
|
|
NM_004369.4(COL6A3):c.973G>A (p.Ala325Thr)
|
rs905662421
|
0.00002
|
|
NM_004370.6(COL12A1):c.1023T>C (p.Ile341=)
|
rs747827698
|
0.00002
|
|
NM_004370.6(COL12A1):c.1171G>T (p.Val391Phe)
|
rs565496900
|
0.00002
|
|
NM_004370.6(COL12A1):c.1322T>C (p.Ile441Thr)
|
rs1223531902
|
0.00002
|
|
NM_004370.6(COL12A1):c.1429G>A (p.Val477Ile)
|
rs759237307
|
0.00002
|
|
NM_004370.6(COL12A1):c.1458G>A (p.Arg486=)
|
rs560103397
|
0.00002
|
|
NM_004370.6(COL12A1):c.1647G>A (p.Thr549=)
|
rs761187970
|
0.00002
|
|
NM_004370.6(COL12A1):c.1716T>C (p.Phe572=)
|
rs781239880
|
0.00002
|
|
NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys)
|
rs764727126
|
0.00002
|
|
NM_004370.6(COL12A1):c.1743C>T (p.Arg581=)
|
rs201511621
|
0.00002
|
|
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val)
|
rs373292353
|
0.00002
|
|
NM_004370.6(COL12A1):c.189G>A (p.Thr63=)
|
rs371298920
|
0.00002
|
|
NM_004370.6(COL12A1):c.191-11T>C
|
rs765124645
|
0.00002
|
|
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg)
|
rs764241362
|
0.00002
|
|
NM_004370.6(COL12A1):c.19C>G (p.Pro7Ala)
|
rs755046298
|
0.00002
|
|
NM_004370.6(COL12A1):c.2046G>C (p.Ser682=)
|
rs1039108581
|
0.00002
|
|
NM_004370.6(COL12A1):c.2099A>G (p.Asn700Ser)
|
rs752941721
|
0.00002
|
|
NM_004370.6(COL12A1):c.227C>T (p.Thr76Ile)
|
rs746079159
|
0.00002
|
|
NM_004370.6(COL12A1):c.2378T>A (p.Ile793Asn)
|
rs759182254
|
0.00002
|
|
NM_004370.6(COL12A1):c.2418A>G (p.Gly806=)
|
rs776558080
|
0.00002
|
|
NM_004370.6(COL12A1):c.2437+13T>C
|
rs545025813
|
0.00002
|
|
NM_004370.6(COL12A1):c.2445G>A (p.Gly815=)
|
rs201021998
|
0.00002
|
|
NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala)
|
rs770324764
|
0.00002
|
|
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu)
|
rs771124556
|
0.00002
|
|
NM_004370.6(COL12A1):c.2633A>G (p.Gln878Arg)
|
rs761818931
|
0.00002
|
|
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr)
|
rs373583477
|
0.00002
|
|
NM_004370.6(COL12A1):c.2679C>T (p.Asp893=)
|
rs747852589
|
0.00002
|
|
NM_004370.6(COL12A1):c.2706T>G (p.Leu902=)
|
rs765497889
|
0.00002
|
|
NM_004370.6(COL12A1):c.274G>T (p.Val92Leu)
|
rs377482121
|
0.00002
|
|
NM_004370.6(COL12A1):c.2842A>T (p.Thr948Ser)
|
rs932009209
|
0.00002
|
|
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg)
|
rs752812483
|
0.00002
|
|
NM_004370.6(COL12A1):c.2984-2A>G
|
rs760316411
|
0.00002
|
|
NM_004370.6(COL12A1):c.3033A>C (p.Thr1011=)
|
rs1424598359
|
0.00002
|
|
NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu)
|
rs374540275
|
0.00002
|
|
NM_004370.6(COL12A1):c.3270T>C (p.Pro1090=)
|
rs765327402
|
0.00002
|
|
NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn)
|
rs768943327
|
0.00002
|
|
NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu)
|
rs886380438
|
0.00002
|
|
NM_004370.6(COL12A1):c.3836-19C>G
|
rs762897672
|
0.00002
|
|
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His)
|
rs191757914
|
0.00002
|
|
NM_004370.6(COL12A1):c.3919A>G (p.Ile1307Val)
|
rs749722543
|
0.00002
|
|
NM_004370.6(COL12A1):c.3937C>A (p.Gln1313Lys)
|
rs780568012
|
0.00002
|
|
NM_004370.6(COL12A1):c.4105G>T (p.Asp1369Tyr)
|
rs778970645
|
0.00002
|
|
NM_004370.6(COL12A1):c.4148-4G>A
|
rs146899194
|
0.00002
|
|
NM_004370.6(COL12A1):c.4231A>G (p.Ser1411Gly)
|
rs1385334403
|
0.00002
|
|
NM_004370.6(COL12A1):c.4241G>A (p.Arg1414Gln)
|
rs769711983
|
0.00002
|
|
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn)
|
rs758640189
|
0.00002
|
|
NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His)
|
rs1033545876
|
0.00002
|
|
NM_004370.6(COL12A1):c.4356C>T (p.Val1452=)
|
rs765983584
|
0.00002
|
|
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser)
|
rs1453508139
|
0.00002
|
|
NM_004370.6(COL12A1):c.4402G>A (p.Gly1468Arg)
|
rs771110521
|
0.00002
|
|
NM_004370.6(COL12A1):c.465T>C (p.Asn155=)
|
rs777308349
|
0.00002
|
|
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu)
|
rs373002461
|
0.00002
|
|
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs)
|
rs1471550984
|
0.00002
|
|
NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr)
|
rs772069524
|
0.00002
|
|
NM_004370.6(COL12A1):c.4833G>A (p.Glu1611=)
|
rs369793258
|
0.00002
|
|
NM_004370.6(COL12A1):c.4856C>G (p.Thr1619Ser)
|
rs757815790
|
0.00002
|
|
NM_004370.6(COL12A1):c.4905T>A (p.Ser1635=)
|
rs1262898971
|
0.00002
|
|
NM_004370.6(COL12A1):c.4936G>C (p.Val1646Leu)
|
rs779002973
|
0.00002
|
|
NM_004370.6(COL12A1):c.4980C>G (p.Asn1660Lys)
|
rs368481619
|
0.00002
|
|
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys)
|
rs767343975
|
0.00002
|
|
NM_004370.6(COL12A1):c.5180T>G (p.Ile1727Ser)
|
rs752550335
|
0.00002
|
|
NM_004370.6(COL12A1):c.5208C>A (p.Asp1736Glu)
|
rs776561287
|
0.00002
|
|
NM_004370.6(COL12A1):c.5295A>T (p.Thr1765=)
|
rs570972516
|
0.00002
|
|
NM_004370.6(COL12A1):c.5445A>T (p.Pro1815=)
|
rs1249793538
|
0.00002
|
|
NM_004370.6(COL12A1):c.5524+16G>C
|
rs755749812
|
0.00002
|
|
NM_004370.6(COL12A1):c.5625G>A (p.Lys1875=)
|
rs768333048
|
0.00002
|
|
NM_004370.6(COL12A1):c.5644G>A (p.Ala1882Thr)
|
rs757943935
|
0.00002
|
|
NM_004370.6(COL12A1):c.5646A>T (p.Ala1882=)
|
rs774390819
|
0.00002
|
|
NM_004370.6(COL12A1):c.5673C>G (p.Ile1891Met)
|
rs750550229
|
0.00002
|
|
NM_004370.6(COL12A1):c.5767G>A (p.Gly1923Arg)
|
rs764600940
|
0.00002
|
|
NM_004370.6(COL12A1):c.5850C>T (p.Leu1950=)
|
rs779833436
|
0.00002
|
|
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile)
|
rs1244436929
|
0.00002
|
|
NM_004370.6(COL12A1):c.5937+13G>T
|
rs769986889
|
0.00002
|
|
NM_004370.6(COL12A1):c.6103G>A (p.Gly2035Ser)
|
rs750263276
|
0.00002
|
|
NM_004370.6(COL12A1):c.6147T>C (p.Asp2049=)
|
rs200777154
|
0.00002
|
|
NM_004370.6(COL12A1):c.6199A>G (p.Ile2067Val)
|
rs376192452
|
0.00002
|
|
NM_004370.6(COL12A1):c.6394T>C (p.Phe2132Leu)
|
rs769755656
|
0.00002
|
|
NM_004370.6(COL12A1):c.6460+20A>G
|
rs751297089
|
0.00002
|
|
NM_004370.6(COL12A1):c.6597A>G (p.Gln2199=)
|
rs1442019750
|
0.00002
|
|
NM_004370.6(COL12A1):c.6810C>T (p.Val2270=)
|
rs1384590633
|
0.00002
|
|
NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr)
|
rs993593939
|
0.00002
|
|
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser)
|
rs758186176
|
0.00002
|
|
NM_004370.6(COL12A1):c.7087-14A>G
|
rs779399089
|
0.00002
|
|
NM_004370.6(COL12A1):c.7131G>A (p.Lys2377=)
|
rs1344927209
|
0.00002
|
|
NM_004370.6(COL12A1):c.7307G>A (p.Arg2436Gln)
|
rs1315131480
|
0.00002
|
|
NM_004370.6(COL12A1):c.7428T>C (p.Ser2476=)
|
rs777334909
|
0.00002
|
|
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg)
|
rs199633490
|
0.00002
|
|
NM_004370.6(COL12A1):c.7524T>C (p.Cys2508=)
|
rs755597191
|
0.00002
|
|
NM_004370.6(COL12A1):c.7526C>G (p.Pro2509Arg)
|
rs781184043
|
0.00002
|
|
NM_004370.6(COL12A1):c.7569G>A (p.Met2523Ile)
|
rs371624564
|
0.00002
|
|
NM_004370.6(COL12A1):c.8130C>T (p.Cys2710=)
|
rs1768550709
|
0.00002
|
|
NM_004370.6(COL12A1):c.823+10G>A
|
rs1233608917
|
0.00002
|
|
NM_004370.6(COL12A1):c.8238T>C (p.Val2746=)
|
rs555905349
|
0.00002
|
|
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg)
|
rs199693016
|
0.00002
|
|
NM_004370.6(COL12A1):c.8523+11T>C
|
rs370728186
|
0.00002
|
|
NM_004370.6(COL12A1):c.8523+16C>T
|
rs751486526
|
0.00002
|
|
NM_004370.6(COL12A1):c.8563C>T (p.Pro2855Ser)
|
rs1226171594
|
0.00002
|
|
NM_004370.6(COL12A1):c.8592C>G (p.Ser2864=)
|
rs372700355
|
0.00002
|
|
NM_004370.6(COL12A1):c.8695G>A (p.Ala2899Thr)
|
rs780457606
|
0.00002
|
|
NM_004370.6(COL12A1):c.8699C>T (p.Ser2900Phe)
|
rs1198783904
|
0.00002
|
|
NM_004370.6(COL12A1):c.8714G>A (p.Arg2905Gln)
|
rs759065663
|
0.00002
|
|
NM_004370.6(COL12A1):c.8745G>A (p.Leu2915=)
|
rs749317169
|
0.00002
|
|
NM_004370.6(COL12A1):c.8830C>G (p.Pro2944Ala)
|
rs778365596
|
0.00002
|
|
NM_004370.6(COL12A1):c.8841G>A (p.Pro2947=)
|
rs767339128
|
0.00002
|
|
NM_004370.6(COL12A1):c.8937A>G (p.Glu2979=)
|
rs372365979
|
0.00002
|
|
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp)
|
rs757075255
|
0.00002
|
|
NM_004370.6(COL12A1):c.9048C>T (p.Ser3016=)
|
rs374037516
|
0.00002
|
|
NM_004370.6(COL12A1):c.9104G>A (p.Arg3035Gln)
|
rs749005420
|
0.00002
|
|
NM_004370.6(COL12A1):c.971T>G (p.Leu324Arg)
|
rs762612450
|
0.00002
|
|
NM_006063.3(KLHL41):c.1110+20T>C
|
rs777968201
|
0.00002
|
|
NM_006063.3(KLHL41):c.1306A>G (p.Lys436Glu)
|
rs1185067965
|
0.00002
|
|
NM_006063.3(KLHL41):c.1392G>T (p.Arg464Ser)
|
rs745775130
|
0.00002
|
|
NM_006063.3(KLHL41):c.1674A>G (p.Lys558=)
|
rs777120116
|
0.00002
|
|
NM_006063.3(KLHL41):c.1759T>C (p.Tyr587His)
|
rs770685517
|
0.00002
|
|
NM_006063.3(KLHL41):c.614G>A (p.Arg205Gln)
|
rs576773055
|
0.00002
|
|
NM_006063.3(KLHL41):c.757A>G (p.Lys253Glu)
|
rs773708864
|
0.00002
|
|
NM_006790.3(MYOT):c.1457T>C (p.Leu486Ser)
|
rs372307298
|
0.00002
|
|
NM_006790.3(MYOT):c.1481A>C (p.Glu494Ala)
|
rs781052225
|
0.00002
|
|
NM_006790.3(MYOT):c.1497A>T (p.Ter499Tyr)
|
rs779978043
|
0.00002
|
|
NM_006790.3(MYOT):c.335T>A (p.Ile112Asn)
|
rs752723849
|
0.00002
|
|
NM_006790.3(MYOT):c.385A>G (p.Ile129Val)
|
rs1191595067
|
0.00002
|
|
NM_006790.3(MYOT):c.471G>A (p.Leu157=)
|
rs762886873
|
0.00002
|
|
NM_006790.3(MYOT):c.529C>G (p.Gln177Glu)
|
rs140135928
|
0.00002
|
|
NM_006790.3(MYOT):c.762A>C (p.Gln254His)
|
rs983379755
|
0.00002
|
|
NM_006790.3(MYOT):c.782T>C (p.Ile261Thr)
|
rs764439615
|
0.00002
|
|
NM_007078.3(LDB3):c.1001C>A (p.Pro334Gln)
|
rs776058652
|
0.00002
|
|
NM_007078.3(LDB3):c.1119C>T (p.Ala373=)
|
rs773647394
|
0.00002
|
|
NM_007078.3(LDB3):c.1164C>T (p.Pro388=)
|
rs780108812
|
0.00002
|
|
NM_007078.3(LDB3):c.1256C>A (p.Ser419Tyr)
|
rs368888118
|
0.00002
|
|
NM_007078.3(LDB3):c.1321C>T (p.Pro441Ser)
|
rs757728320
|
0.00002
|
|
NM_007078.3(LDB3):c.1381T>G (p.Tyr461Asp)
|
rs145655904
|
0.00002
|
|
NM_007078.3(LDB3):c.1382A>C (p.Tyr461Ser)
|
rs774224466
|
0.00002
|
|
NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg)
|
rs370521488
|
0.00002
|
|
NM_007078.3(LDB3):c.1442C>G (p.Pro481Arg)
|
rs12761754
|
0.00002
|
|
NM_007078.3(LDB3):c.1520C>A (p.Thr507Asn)
|
rs150188572
|
0.00002
|
|
NM_007078.3(LDB3):c.1546C>T (p.Arg516Trp)
|
rs773327911
|
0.00002
|
|
NM_007078.3(LDB3):c.1548G>A (p.Arg516=)
|
rs376826874
|
0.00002
|
|
NM_007078.3(LDB3):c.155T>C (p.Ile52Thr)
|
rs1449865053
|
0.00002
|
|
NM_007078.3(LDB3):c.162C>T (p.Gly54=)
|
rs757856121
|
0.00002
|
|
NM_007078.3(LDB3):c.1639C>T (p.Arg547Trp)
|
rs374426474
|
0.00002
|
|
NM_007078.3(LDB3):c.1657C>A (p.His553Asn)
|
rs1488010574
|
0.00002
|
|
NM_007078.3(LDB3):c.1696A>G (p.Met566Val)
|
rs775232208
|
0.00002
|
|
NM_007078.3(LDB3):c.1703G>A (p.Arg568His)
|
rs769156627
|
0.00002
|
|
NM_007078.3(LDB3):c.1745C>G (p.Thr582Ser)
|
rs754840310
|
0.00002
|
|
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln)
|
rs727504944
|
0.00002
|
|
NM_007078.3(LDB3):c.1785C>T (p.Asn595=)
|
rs757550916
|
0.00002
|
|
NM_007078.3(LDB3):c.1824G>A (p.Pro608=)
|
rs748428531
|
0.00002
|
|
NM_007078.3(LDB3):c.1858-5C>A
|
rs781763092
|
0.00002
|
|
NM_007078.3(LDB3):c.2074G>A (p.Asp692Asn)
|
rs754529329
|
0.00002
|
|
NM_007078.3(LDB3):c.2124G>A (p.Pro708=)
|
rs759812655
|
0.00002
|
|
NM_007078.3(LDB3):c.246-8T>A
|
rs750671538
|
0.00002
|
|
NM_007078.3(LDB3):c.322-15C>T
|
rs745496095
|
0.00002
|
|
NM_007078.3(LDB3):c.338C>T (p.Thr113Met)
|
rs563714303
|
0.00002
|
|
NM_007078.3(LDB3):c.356C>T (p.Ala119Val)
|
rs397517223
|
0.00002
|
|
NM_007078.3(LDB3):c.393C>A (p.Gly131=)
|
rs779804488
|
0.00002
|
|
NM_007078.3(LDB3):c.468C>T (p.Ala156=)
|
rs374233873
|
0.00002
|
|
NM_007078.3(LDB3):c.47G>A (p.Arg16His)
|
rs767986134
|
0.00002
|
|
NM_007078.3(LDB3):c.491C>T (p.Pro164Leu)
|
rs761907380
|
0.00002
|
|
NM_007078.3(LDB3):c.494G>A (p.Arg165Gln)
|
rs61857115
|
0.00002
|
|
NM_007078.3(LDB3):c.531C>T (p.Ala177=)
|
rs776893998
|
0.00002
|
|
NM_007078.3(LDB3):c.608C>T (p.Ser203Leu)
|
rs201538257
|
0.00002
|
|
NM_007078.3(LDB3):c.646A>T (p.Met216Leu)
|
rs765199175
|
0.00002
|
|
NM_007078.3(LDB3):c.656G>A (p.Arg219Gln)
|
rs530979771
|
0.00002
|
|
NM_007078.3(LDB3):c.669G>A (p.Ser223=)
|
rs778089838
|
0.00002
|
|
NM_007078.3(LDB3):c.690-20G>A
|
rs371706056
|
0.00002
|
|
NM_007078.3(LDB3):c.733G>A (p.Val245Ile)
|
rs573061464
|
0.00002
|
|
NM_007078.3(LDB3):c.818G>A (p.Arg273His)
|
rs763481542
|
0.00002
|
|
NM_007078.3(LDB3):c.859+14C>G
|
rs748281629
|
0.00002
|
|
NM_007078.3(LDB3):c.860-7C>T
|
rs779264739
|
0.00002
|
|
NM_007078.3(LDB3):c.896+6694C>G
|
rs747762937
|
0.00002
|
|
NM_007078.3(LDB3):c.999G>A (p.Ser333=)
|
rs1332348876
|
0.00002
|
|
NM_017534.6(MYH2):c.1008+1G>A
|
rs781504304
|
0.00002
|
|
NM_017534.6(MYH2):c.1083T>C (p.His361=)
|
rs754882670
|
0.00002
|
|
NM_017534.6(MYH2):c.1491C>T (p.Phe497=)
|
rs1005296954
|
0.00002
|
|
NM_017534.6(MYH2):c.182C>T (p.Thr61Met)
|
rs145979297
|
0.00002
|
|
NM_017534.6(MYH2):c.1958T>C (p.Val653Ala)
|
rs1452856320
|
0.00002
|
|
NM_017534.6(MYH2):c.2163T>C (p.Tyr721=)
|
rs771919379
|
0.00002
|
|
NM_017534.6(MYH2):c.2181-15T>C
|
rs371894422
|
0.00002
|
|
NM_017534.6(MYH2):c.2347C>T (p.Arg783Ter)
|
rs762121316
|
0.00002
|
|
NM_017534.6(MYH2):c.2377C>T (p.Arg793Ter)
|
rs545623839
|
0.00002
|
|
NM_017534.6(MYH2):c.2703C>T (p.Ala901=)
|
rs747870125
|
0.00002
|
|
NM_017534.6(MYH2):c.2707G>A (p.Gly903Ser)
|
rs755189388
|
0.00002
|
|
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter)
|
rs780124402
|
0.00002
|
|
NM_017534.6(MYH2):c.2915A>G (p.Lys972Arg)
|
rs1386070071
|
0.00002
|
|
NM_017534.6(MYH2):c.2996C>A (p.Thr999Asn)
|
rs767951536
|
0.00002
|
|
NM_017534.6(MYH2):c.3161T>C (p.Leu1054Pro)
|
rs781763749
|
0.00002
|
|
NM_017534.6(MYH2):c.326G>A (p.Arg109His)
|
rs1468175087
|
0.00002
|
|
NM_017534.6(MYH2):c.3299T>C (p.Ile1100Thr)
|
rs769463886
|
0.00002
|
|
NM_017534.6(MYH2):c.3331C>T (p.Gln1111Ter)
|
rs758264018
|
0.00002
|
|
NM_017534.6(MYH2):c.3334A>G (p.Lys1112Glu)
|
rs150830535
|
0.00002
|
|
NM_017534.6(MYH2):c.3361A>C (p.Ile1121Leu)
|
rs767581337
|
0.00002
|
|
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys)
|
rs376357016
|
0.00002
|
|
NM_017534.6(MYH2):c.3539T>C (p.Met1180Thr)
|
rs765925366
|
0.00002
|
|
NM_017534.6(MYH2):c.363C>G (p.Leu121=)
|
rs780366788
|
0.00002
|
|
NM_017534.6(MYH2):c.373A>C (p.Thr125Pro)
|
rs886044672
|
0.00002
|
|
NM_017534.6(MYH2):c.3744+11T>G
|
rs371861996
|
0.00002
|
|
NM_017534.6(MYH2):c.4163G>A (p.Arg1388His)
|
rs745754711
|
0.00002
|
|
NM_017534.6(MYH2):c.4205G>A (p.Arg1402Gln)
|
rs781252325
|
0.00002
|
|
NM_017534.6(MYH2):c.425C>G (p.Ala142Gly)
|
rs766305131
|
0.00002
|
|
NM_017534.6(MYH2):c.4537C>T (p.Gln1513Ter)
|
rs929311433
|
0.00002
|
|
NM_017534.6(MYH2):c.4546T>A (p.Ser1516Thr)
|
rs778405343
|
0.00002
|
|
NM_017534.6(MYH2):c.4798G>A (p.Val1600Met)
|
rs774036368
|
0.00002
|
|
NM_017534.6(MYH2):c.4839T>C (p.Ser1613=)
|
rs1042185
|
0.00002
|
|
NM_017534.6(MYH2):c.5082G>A (p.Leu1694=)
|
rs1462094022
|
0.00002
|
|
NM_017534.6(MYH2):c.5087C>A (p.Ala1696Asp)
|
rs1050339515
|
0.00002
|
|
NM_017534.6(MYH2):c.5115A>G (p.Arg1705=)
|
rs1042270
|
0.00002
|
|
NM_017534.6(MYH2):c.5153G>A (p.Arg1718His)
|
rs755776701
|
0.00002
|
|
NM_017534.6(MYH2):c.5472+5G>A
|
rs765560187
|
0.00002
|
|
NM_017534.6(MYH2):c.5477G>A (p.Arg1826Gln)
|
rs766875105
|
0.00002
|
|
NM_017534.6(MYH2):c.5540G>A (p.Arg1847His)
|
rs748605415
|
0.00002
|
|
NM_017534.6(MYH2):c.5647T>G (p.Ser1883Ala)
|
rs746016363
|
0.00002
|
|
NM_017534.6(MYH2):c.5744G>A (p.Arg1915Gln)
|
rs201882457
|
0.00002
|
|
NM_017534.6(MYH2):c.625G>T (p.Glu209Ter)
|
rs1250462450
|
0.00002
|
|
NM_017534.6(MYH2):c.979G>A (p.Asp327Asn)
|
rs200893594
|
0.00002
|
|
NM_020451.3(SELENON):c.1075A>G (p.Ile359Val)
|
rs201316362
|
0.00002
|
|
NM_020451.3(SELENON):c.1312G>A (p.Asp438Asn)
|
rs200146431
|
0.00002
|
|
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)
|
rs377215510
|
0.00002
|
|
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu)
|
rs368377980
|
0.00002
|
|
NM_020451.3(SELENON):c.1644C>T (p.Ser548=)
|
rs368507434
|
0.00002
|
|
NM_020451.3(SELENON):c.1649A>C (p.Lys550Thr)
|
rs1001504099
|
0.00002
|
|
NM_020451.3(SELENON):c.164C>T (p.Ala55Val)
|
rs2047850597
|
0.00002
|
|
NM_020451.3(SELENON):c.225C>T (p.Leu75=)
|
rs889870201
|
0.00002
|
|
NM_020451.3(SELENON):c.430G>A (p.Glu144Lys)
|
rs761068133
|
0.00002
|
|
NM_020451.3(SELENON):c.500C>T (p.Pro167Leu)
|
rs747408056
|
0.00002
|
|
NM_020451.3(SELENON):c.614A>C (p.His205Pro)
|
rs745937377
|
0.00002
|
|
NM_020451.3(SELENON):c.883G>A (p.Glu295Lys)
|
rs978886878
|
0.00002
|
|
NM_020451.3(SELENON):c.902C>T (p.Pro301Leu)
|
rs767340103
|
0.00002
|
|
NM_020451.3(SELENON):c.988C>T (p.Arg330Trp)
|
rs1489695877
|
0.00002
|
|
NM_032790.4(ORAI1):c.13C>G (p.Pro5Ala)
|
rs1253665950
|
0.00002
|
|
NM_032790.4(ORAI1):c.181T>C (p.Ser61Pro)
|
rs201617764
|
0.00002
|
|
NM_032790.4(ORAI1):c.240C>T (p.Tyr80=)
|
rs199715755
|
0.00002
|
|
NM_032790.4(ORAI1):c.279G>C (p.Ser93=)
|
rs562258866
|
0.00002
|
|
NM_032790.4(ORAI1):c.339C>T (p.His113=)
|
rs782071653
|
0.00002
|
|
NM_032790.4(ORAI1):c.517G>A (p.Glu173Lys)
|
rs533220170
|
0.00002
|
|
NM_032790.4(ORAI1):c.577C>T (p.Leu193=)
|
rs367886026
|
0.00002
|
|
NM_032790.4(ORAI1):c.632C>A (p.Pro211His)
|
rs782472239
|
0.00002
|
|
NM_032790.4(ORAI1):c.717G>A (p.Ser239=)
|
rs782232018
|
0.00002
|
|
NM_032790.4(ORAI1):c.754G>A (p.Val252Ile)
|
rs1485414099
|
0.00002
|
|
NM_032790.4(ORAI1):c.75C>G (p.Ser25Arg)
|
rs1273511135
|
0.00002
|
|
NM_032790.4(ORAI1):c.783G>A (p.Leu261=)
|
rs781878981
|
0.00002
|
|
NM_032790.4(ORAI1):c.823G>A (p.Glu275Lys)
|
rs368440417
|
0.00002
|
|
NM_032790.4(ORAI1):c.831G>A (p.Ala277=)
|
rs370993629
|
0.00002
|
|
NM_139343.3(BIN1):c.1083G>A (p.Leu361=)
|
rs543438812
|
0.00002
|
|
NM_139343.3(BIN1):c.1264-8G>A
|
rs776696908
|
0.00002
|
|
NM_139343.3(BIN1):c.1265C>T (p.Pro422Leu)
|
rs760559539
|
0.00002
|
|
NM_139343.3(BIN1):c.1412C>T (p.Ala471Val)
|
rs746346952
|
0.00002
|
|
NM_139343.3(BIN1):c.1440G>A (p.Thr480=)
|
rs754900286
|
0.00002
|
|
NM_139343.3(BIN1):c.1462-16G>A
|
rs372302632
|
0.00002
|
|
NM_139343.3(BIN1):c.1464C>T (p.Ser488=)
|
rs759941022
|
0.00002
|
|
NM_139343.3(BIN1):c.1530T>C (p.Ser510=)
|
rs778580743
|
0.00002
|
|
NM_139343.3(BIN1):c.1534G>A (p.Ala512Thr)
|
rs756816560
|
0.00002
|
|
NM_139343.3(BIN1):c.1541G>A (p.Arg514His)
|
rs766615886
|
0.00002
|
|
NM_139343.3(BIN1):c.1548C>T (p.Asp516=)
|
rs750869889
|
0.00002
|
|
NM_139343.3(BIN1):c.1607C>A (p.Thr536Lys)
|
rs773732601
|
0.00002
|
|
NM_139343.3(BIN1):c.1729C>G (p.Leu577Val)
|
rs771368114
|
0.00002
|
|
NM_139343.3(BIN1):c.1756G>A (p.Glu586Lys)
|
rs1042277527
|
0.00002
|
|
NM_139343.3(BIN1):c.220+18C>T
|
rs761189061
|
0.00002
|
|
NM_139343.3(BIN1):c.277G>T (p.Asp93Tyr)
|
rs774273606
|
0.00002
|
|
NM_139343.3(BIN1):c.321C>T (p.Asn107=)
|
rs529323298
|
0.00002
|
|
NM_139343.3(BIN1):c.393C>T (p.Gly131=)
|
rs1455926606
|
0.00002
|
|
NM_139343.3(BIN1):c.613-14G>A
|
rs770168243
|
0.00002
|
|
NM_139343.3(BIN1):c.661G>A (p.Val221Met)
|
rs573529529
|
0.00002
|
|
NM_139343.3(BIN1):c.775-3C>T
|
rs373768625
|
0.00002
|
|
NM_145064.3(STAC3):c.166G>C (p.Gly56Arg)
|
rs762781734
|
0.00002
|
|
NM_145064.3(STAC3):c.217G>C (p.Glu73Gln)
|
rs777991873
|
0.00002
|
|
NM_145064.3(STAC3):c.232C>G (p.Pro78Ala)
|
rs751491183
|
0.00002
|
|
NM_145064.3(STAC3):c.251T>G (p.Leu84Arg)
|
rs201754072
|
0.00002
|
|
NM_145064.3(STAC3):c.335-10C>T
|
rs181578623
|
0.00002
|
|
NM_145064.3(STAC3):c.335-9T>C
|
rs757163562
|
0.00002
|
|
NM_145064.3(STAC3):c.720+6A>G
|
rs375395653
|
0.00002
|
|
NM_152263.4(TPM3):c.231G>A (p.Lys77=)
|
rs761461964
|
0.00002
|
|
NM_152263.4(TPM3):c.234G>A (p.Lys78=)
|
rs888396890
|
0.00002
|
|
NM_152263.4(TPM3):c.378-13C>T
|
rs367548433
|
0.00002
|
|
NM_152263.4(TPM3):c.777T>C (p.Asp259=)
|
rs767812868
|
0.00002
|
|
NM_152263.4(TPM3):c.855-1G>A
|
rs113605263
|
0.00002
|
|
NM_152263.4(TPM3):c.86A>C (p.Glu29Ala)
|
rs1049537934
|
0.00002
|
|
NM_152393.4(KLHL40):c.1130C>T (p.Pro377Leu)
|
rs760884994
|
0.00002
|
|
NM_152393.4(KLHL40):c.1138G>A (p.Ala380Thr)
|
rs561674449
|
0.00002
|
|
NM_152393.4(KLHL40):c.1243T>C (p.Tyr415His)
|
rs759757085
|
0.00002
|
|
NM_152393.4(KLHL40):c.1245C>T (p.Tyr415=)
|
rs781322851
|
0.00002
|
|
NM_152393.4(KLHL40):c.124C>A (p.Arg42Ser)
|
rs763047874
|
0.00002
|
|
NM_152393.4(KLHL40):c.1313+8T>C
|
rs757710078
|
0.00002
|
|
NM_152393.4(KLHL40):c.1357T>C (p.Tyr453His)
|
rs1305175995
|
0.00002
|
|
NM_152393.4(KLHL40):c.1369G>C (p.Val457Leu)
|
rs568243443
|
0.00002
|
|
NM_152393.4(KLHL40):c.1439T>C (p.Met480Thr)
|
rs920578484
|
0.00002
|
|
NM_152393.4(KLHL40):c.1493C>G (p.Thr498Ser)
|
rs761479692
|
0.00002
|
|
NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro)
|
rs778022582
|
0.00002
|
|
NM_152393.4(KLHL40):c.1539C>T (p.Ile513=)
|
rs535889406
|
0.00002
|
|
NM_152393.4(KLHL40):c.1557C>T (p.Thr519=)
|
rs1314573843
|
0.00002
|
|
NM_152393.4(KLHL40):c.1567C>T (p.Leu523=)
|
rs761258938
|
0.00002
|
|
NM_152393.4(KLHL40):c.1782G>A (p.Glu594=)
|
rs371116469
|
0.00002
|
|
NM_152393.4(KLHL40):c.1789C>T (p.Leu597=)
|
rs759554210
|
0.00002
|
|
NM_152393.4(KLHL40):c.388C>T (p.Leu130Phe)
|
rs142509355
|
0.00002
|
|
NM_152393.4(KLHL40):c.475C>G (p.His159Asp)
|
rs753666861
|
0.00002
|
|
NM_152393.4(KLHL40):c.515T>C (p.Leu172Pro)
|
rs749614458
|
0.00002
|
|
NM_152393.4(KLHL40):c.522C>G (p.Ala174=)
|
rs746373391
|
0.00002
|
|
NM_152393.4(KLHL40):c.653C>T (p.Pro218Leu)
|
rs1023047173
|
0.00002
|
|
NM_152393.4(KLHL40):c.764A>G (p.Gln255Arg)
|
rs139088361
|
0.00002
|
|
NM_152393.4(KLHL40):c.783C>A (p.His261Gln)
|
rs769290437
|
0.00002
|
|
NM_152393.4(KLHL40):c.806G>A (p.Arg269Gln)
|
rs770828570
|
0.00002
|
|
NM_152393.4(KLHL40):c.988G>T (p.Ala330Ser)
|
rs1439774487
|
0.00002
|
|
NM_198271.5(LMOD3):c.110C>G (p.Ser37Trp)
|
rs572092252
|
0.00002
|
|
NM_198271.5(LMOD3):c.1139C>T (p.Pro380Leu)
|
rs765223466
|
0.00002
|
|
NM_198271.5(LMOD3):c.123C>T (p.Val41=)
|
rs373026196
|
0.00002
|
|
NM_198271.5(LMOD3):c.1249A>T (p.Ile417Leu)
|
rs745957045
|
0.00002
|
|
NM_198271.5(LMOD3):c.131_132del (p.Pro44fs)
|
rs1300427865
|
0.00002
|
|
NM_198271.5(LMOD3):c.1350G>A (p.Pro450=)
|
rs748774777
|
0.00002
|
|
NM_198271.5(LMOD3):c.1415C>A (p.Pro472Gln)
|
rs771791740
|
0.00002
|
|
NM_198271.5(LMOD3):c.1527C>T (p.Thr509=)
|
rs746548821
|
0.00002
|
|
NM_198271.5(LMOD3):c.295-4G>A
|
rs778291725
|
0.00002
|
|
NM_198271.5(LMOD3):c.461A>G (p.Asp154Gly)
|
rs773327736
|
0.00002
|
|
NM_198271.5(LMOD3):c.469G>A (p.Asp157Asn)
|
rs574142691
|
0.00002
|
|
NM_198271.5(LMOD3):c.511A>G (p.Arg171Gly)
|
rs376560960
|
0.00002
|
|
NM_198271.5(LMOD3):c.797T>C (p.Ile266Thr)
|
rs545644080
|
0.00002
|
|
NM_198271.5(LMOD3):c.906G>A (p.Leu302=)
|
rs370070559
|
0.00002
|
|
NM_198271.5(LMOD3):c.951C>G (p.Ile317Met)
|
rs761586160
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=)
|
rs727504106
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.1422G>A (p.Pro474=)
|
rs778956632
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.144+19G>A
|
rs778658655
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.1561C>T (p.Arg521Cys)
|
rs749232741
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.1590A>G (p.Thr530=)
|
rs886058800
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.1642G>A (p.Ala548Thr)
|
rs375557486
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.1661-15T>C
|
rs1330364882
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.1804G>A (p.Ala602Thr)
|
rs772970017
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.1861C>T (p.Leu621Phe)
|
rs759047402
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.18G>A (p.Pro6=)
|
rs754063352
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.1975G>A (p.Gly659Ser)
|
rs141791087
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.1994T>C (p.Met665Thr)
|
rs200223474
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.229C>G (p.Leu77Val)
|
rs765702961
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.2393C>T (p.Pro798Leu)
|
rs371055489
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.2459A>G (p.Lys820Arg)
|
rs138533058
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.268T>G (p.Cys90Gly)
|
rs1443371091
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.396G>T (p.Gln132His)
|
rs1446878933
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.427G>A (p.Ala143Thr)
|
rs372791530
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.454G>A (p.Gly152Ser)
|
rs199566606
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.680C>T (p.Thr227Ile)
|
rs750828226
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.750G>A (p.Leu250=)
|
rs745835545
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.792C>T (p.Ile264=)
|
rs759827180
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.897G>A (p.Pro299=)
|
rs1312900152
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.923G>A (p.Arg308Gln)
|
rs150386533
|
0.00002
|
|
NM_198859.4(PRICKLE2):c.926C>G (p.Ala309Gly)
|
rs201966297
|
0.00002
|
|
NM_213720.3(CHCHD10):c.151A>G (p.Thr51Ala)
|
rs1287389347
|
0.00002
|
|
NM_213720.3(CHCHD10):c.153G>T (p.Thr51=)
|
rs772927642
|
0.00002
|
|
NM_213720.3(CHCHD10):c.262-7C>T
|
rs533095236
|
0.00002
|
|
NM_213720.3(CHCHD10):c.323A>C (p.Gln108Pro)
|
rs889489701
|
0.00002
|
|
NM_213720.3(CHCHD10):c.8G>T (p.Arg3Leu)
|
rs766426370
|
0.00002
|
|
NM_000036.3(AMPD1):c.1000A>C (p.Thr334Pro)
|
rs756169459
|
0.00001
|
|
NM_000036.3(AMPD1):c.1058A>C (p.Tyr353Ser)
|
rs1398708257
|
0.00001
|
|
NM_000036.3(AMPD1):c.1102A>G (p.Thr368Ala)
|
rs1431463591
|
0.00001
|
|
NM_000036.3(AMPD1):c.1210G>C (p.Ala404Pro)
|
rs762722076
|
0.00001
|
|
NM_000036.3(AMPD1):c.1221C>G (p.Ile407Met)
|
rs144014236
|
0.00001
|
|
NM_000036.3(AMPD1):c.1225-12T>C
|
rs762334770
|
0.00001
|
|
NM_000036.3(AMPD1):c.1316T>G (p.Leu439Arg)
|
rs1276731554
|
0.00001
|
|
NM_000036.3(AMPD1):c.1331T>A (p.Val444Asp)
|
rs773253177
|
0.00001
|
|
NM_000036.3(AMPD1):c.1361C>T (p.Thr454Ile)
|
rs768842182
|
0.00001
|
|
NM_000036.3(AMPD1):c.1385T>C (p.Ile462Thr)
|
rs781739971
|
0.00001
|
|
NM_000036.3(AMPD1):c.1388+10T>C
|
rs760486294
|
0.00001
|
|
NM_000036.3(AMPD1):c.1414C>A (p.Leu472Ile)
|
rs761635115
|
0.00001
|
|
NM_000036.3(AMPD1):c.1469C>T (p.Thr490Ile)
|
rs1657968687
|
0.00001
|
|
NM_000036.3(AMPD1):c.1662G>T (p.Val554=)
|
rs780245321
|
0.00001
|
|
NM_000036.3(AMPD1):c.1679+1G>C
|
rs1311864516
|
0.00001
|
|
NM_000036.3(AMPD1):c.1680-20T>C
|
rs771812174
|
0.00001
|
|
NM_000036.3(AMPD1):c.1708C>T (p.Arg570Ter)
|
rs377185948
|
0.00001
|
|
NM_000036.3(AMPD1):c.1709G>A (p.Arg570Gln)
|
rs760410776
|
0.00001
|
|
NM_000036.3(AMPD1):c.1743T>C (p.His581=)
|
rs768544368
|
0.00001
|
|
NM_000036.3(AMPD1):c.1761G>A (p.Met587Ile)
|
rs1422341304
|
0.00001
|
|
NM_000036.3(AMPD1):c.180T>C (p.His60=)
|
rs897295422
|
0.00001
|
|
NM_000036.3(AMPD1):c.1971C>G (p.Thr657=)
|
rs756521034
|
0.00001
|
|
NM_000036.3(AMPD1):c.2086-19C>T
|
rs1335023656
|
0.00001
|
|
NM_000036.3(AMPD1):c.215+8G>A
|
rs781556684
|
0.00001
|
|
NM_000036.3(AMPD1):c.216-5C>T
|
rs553915536
|
0.00001
|
|
NM_000036.3(AMPD1):c.40G>A (p.Asp14Asn)
|
rs866261066
|
0.00001
|
|
NM_000036.3(AMPD1):c.509A>T (p.Asp170Val)
|
rs572362619
|
0.00001
|
|
NM_000036.3(AMPD1):c.510T>C (p.Asp170=)
|
rs772153823
|
0.00001
|
|
NM_000036.3(AMPD1):c.52C>T (p.Arg18Cys)
|
rs369335745
|
0.00001
|
|
NM_000036.3(AMPD1):c.687T>C (p.Pro229=)
|
rs748174102
|
0.00001
|
|
NM_000036.3(AMPD1):c.782A>G (p.His261Arg)
|
rs554380360
|
0.00001
|
|
NM_000036.3(AMPD1):c.875G>A (p.Arg292Gln)
|
rs1290122973
|
0.00001
|
|
NM_000036.3(AMPD1):c.950G>A (p.Arg317His)
|
rs142123340
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.110-6C>G
|
rs782099193
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=)
|
rs782470471
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His)
|
rs977521848
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.231T>C (p.His77=)
|
rs782223969
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.238+11C>G
|
rs1163786089
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys)
|
rs376769286
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu)
|
rs1557192022
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile)
|
rs727503454
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val)
|
rs2068413364
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.460+1G>A
|
rs878853655
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.460+5G>A
|
rs1325571965
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.461-16G>C
|
rs782759146
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=)
|
rs1603381303
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=)
|
rs782498534
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala)
|
rs397515744
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=)
|
rs781846964
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu)
|
rs1557193924
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His)
|
rs371236390
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=)
|
rs587781186
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=)
|
rs372610945
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=)
|
rs201046790
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His)
|
rs782655300
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=)
|
rs782123597
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.700-5C>T
|
rs782731479
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=)
|
rs1042313041
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=)
|
rs368990588
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=)
|
rs782273950
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe)
|
rs782523340
|
0.00001
|
|
NM_000182.5(HADHA):c.110-7T>C
|
rs551019555
|
0.00001
|
|
NM_000182.5(HADHA):c.1128C>T (p.Ile376=)
|
rs765101895
|
0.00001
|
|
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter)
|
rs137852770
|
0.00001
|
|
NM_000182.5(HADHA):c.1140C>T (p.Ser380=)
|
rs199727889
|
0.00001
|
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
|
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln)
|
rs200715496
|
0.00001
|
|
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter)
|
rs1057516461
|
0.00001
|
|
NM_000182.5(HADHA):c.1245A>G (p.Lys415=)
|
rs1669827760
|
0.00001
|
|
NM_000182.5(HADHA):c.1323C>T (p.Ala441=)
|
rs1288347890
|
0.00001
|
|
NM_000182.5(HADHA):c.1325A>T (p.Asp442Val)
|
rs751092349
|
0.00001
|
|
NM_000182.5(HADHA):c.1332G>A (p.Val444=)
|
rs1669824778
|
0.00001
|
|
NM_000182.5(HADHA):c.1389A>G (p.Glu463=)
|
rs772078762
|
0.00001
|
|
NM_000182.5(HADHA):c.1392+7A>G
|
rs757442432
|
0.00001
|
|
NM_000182.5(HADHA):c.1407C>T (p.His469=)
|
rs776013887
|
0.00001
|
|
NM_000182.5(HADHA):c.1434T>C (p.Ala478=)
|
rs780854216
|
0.00001
|
|
NM_000182.5(HADHA):c.1488C>A (p.Gly496=)
|
rs138750492
|
0.00001
|
|
NM_000182.5(HADHA):c.1524G>A (p.Leu508=)
|
rs748881184
|
0.00001
|
|
NM_000182.5(HADHA):c.1539G>A (p.Thr513=)
|
rs755287314
|
0.00001
|
|
NM_000182.5(HADHA):c.1599G>A (p.Gly533=)
|
rs773993179
|
0.00001
|
|
NM_000182.5(HADHA):c.1621-7T>C
|
rs774272303
|
0.00001
|
|
NM_000182.5(HADHA):c.1675A>G (p.Ile559Val)
|
rs780480297
|
0.00001
|
|
NM_000182.5(HADHA):c.1690-2A>G
|
rs1057516217
|
0.00001
|
|
NM_000182.5(HADHA):c.1704G>A (p.Pro568=)
|
rs543883463
|
0.00001
|
|
NM_000182.5(HADHA):c.1755C>T (p.Ala585=)
|
rs921898736
|
0.00001
|
|
NM_000182.5(HADHA):c.1758A>C (p.Thr586=)
|
rs974621601
|
0.00001
|
|
NM_000182.5(HADHA):c.180+19A>G
|
rs367919663
|
0.00001
|
|
NM_000182.5(HADHA):c.1800G>A (p.Ala600=)
|
rs771364967
|
0.00001
|
|
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln)
|
rs373966336
|
0.00001
|
|
NM_000182.5(HADHA):c.1854G>C (p.Leu618=)
|
rs201393639
|
0.00001
|
|
NM_000182.5(HADHA):c.1886-8T>C
|
rs749138340
|
0.00001
|
|
NM_000182.5(HADHA):c.189A>G (p.Thr63=)
|
rs748187062
|
0.00001
|
|
NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs)
|
rs796051971
|
0.00001
|
|
NM_000182.5(HADHA):c.1939G>C (p.Asp647His)
|
rs1669533378
|
0.00001
|
|
NM_000182.5(HADHA):c.1958A>G (p.Asp653Gly)
|
rs1214955457
|
0.00001
|
|
NM_000182.5(HADHA):c.2000+8C>T
|
rs750784743
|
0.00001
|
|
NM_000182.5(HADHA):c.2000T>G (p.Val667Gly)
|
rs1669530550
|
0.00001
|
|
NM_000182.5(HADHA):c.2016C>T (p.Asp672=)
|
rs1669506916
|
0.00001
|
|
NM_000182.5(HADHA):c.201G>A (p.Glu67=)
|
rs1574626650
|
0.00001
|
|
NM_000182.5(HADHA):c.2022G>A (p.Gln674=)
|
rs1479427836
|
0.00001
|
|
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)
|
rs771028541
|
0.00001
|
|
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)
|
rs200438844
|
0.00001
|
|
NM_000182.5(HADHA):c.2112C>T (p.Ala704=)
|
rs754294789
|
0.00001
|
|
NM_000182.5(HADHA):c.2121G>C (p.Gly707=)
|
rs374503588
|
0.00001
|
|
NM_000182.5(HADHA):c.2146+9C>T
|
rs776491880
|
0.00001
|
|
NM_000182.5(HADHA):c.2147-19G>C
|
rs367910392
|
0.00001
|
|
NM_000182.5(HADHA):c.2148G>C (p.Gly716=)
|
rs1271662796
|
0.00001
|
|
NM_000182.5(HADHA):c.2156G>A (p.Arg719His)
|
rs751955844
|
0.00001
|
|
NM_000182.5(HADHA):c.2169G>T (p.Leu723=)
|
rs1352996721
|
0.00001
|
|
NM_000182.5(HADHA):c.2186T>C (p.Ile729Thr)
|
rs143434901
|
0.00001
|
|
NM_000182.5(HADHA):c.2193C>A (p.Asp731Glu)
|
rs1348209738
|
0.00001
|
|
NM_000182.5(HADHA):c.2200A>T (p.Lys734Ter)
|
rs1322871046
|
0.00001
|
|
NM_000182.5(HADHA):c.2208T>C (p.Tyr736=)
|
rs774114061
|
0.00001
|
|
NM_000182.5(HADHA):c.241G>A (p.Ala81Thr)
|
rs1281408938
|
0.00001
|
|
NM_000182.5(HADHA):c.264C>T (p.Ala88=)
|
rs755713464
|
0.00001
|
|
NM_000182.5(HADHA):c.27C>T (p.Ile9=)
|
rs1453533016
|
0.00001
|
|
NM_000182.5(HADHA):c.285A>T (p.Pro95=)
|
rs1483582925
|
0.00001
|
|
NM_000182.5(HADHA):c.315-1G>A
|
rs1458898996
|
0.00001
|
|
NM_000182.5(HADHA):c.324C>T (p.Ala108=)
|
rs559608103
|
0.00001
|
|
NM_000182.5(HADHA):c.341A>G (p.Gln114Arg)
|
rs145798498
|
0.00001
|
|
NM_000182.5(HADHA):c.363A>G (p.Gln121=)
|
rs199639645
|
0.00001
|
|
NM_000182.5(HADHA):c.425A>G (p.Asn142Ser)
|
rs200549951
|
0.00001
|
|
NM_000182.5(HADHA):c.489A>T (p.Lys163Asn)
|
rs1347586924
|
0.00001
|
|
NM_000182.5(HADHA):c.509G>A (p.Gly170Asp)
|
rs746937892
|
0.00001
|
|
NM_000182.5(HADHA):c.552C>A (p.Gly184=)
|
rs997810898
|
0.00001
|
|
NM_000182.5(HADHA):c.573+16C>T
|
rs372317291
|
0.00001
|
|
NM_000182.5(HADHA):c.573+9A>G
|
rs1419666935
|
0.00001
|
|
NM_000182.5(HADHA):c.67+17G>C
|
rs574255291
|
0.00001
|
|
NM_000182.5(HADHA):c.67+3G>A
|
rs759265828
|
0.00001
|
|
NM_000182.5(HADHA):c.676+10A>G
|
rs746940690
|
0.00001
|
|
NM_000182.5(HADHA):c.708A>G (p.Thr236=)
|
rs769619183
|
0.00001
|
|
NM_000182.5(HADHA):c.720A>C (p.Leu240=)
|
rs147042247
|
0.00001
|
|
NM_000182.5(HADHA):c.751C>T (p.Leu251=)
|
rs778945181
|
0.00001
|
|
NM_000182.5(HADHA):c.768C>T (p.Ile256=)
|
rs1245138981
|
0.00001
|
|
NM_000182.5(HADHA):c.800-15C>T
|
rs1057523518
|
0.00001
|
|
NM_000182.5(HADHA):c.911T>C (p.Ile304Thr)
|
rs369774960
|
0.00001
|
|
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr)
|
rs137852774
|
0.00001
|
|
NM_000182.5(HADHA):c.924A>G (p.Val308=)
|
rs556893283
|
0.00001
|
|
NM_000182.5(HADHA):c.976-7T>G
|
rs1670058905
|
0.00001
|
|
NM_000182.5(HADHA):c.981T>C (p.Phe327=)
|
rs775800474
|
0.00001
|
|
NM_000183.3(HADHB):c.1050A>G (p.Gln350=)
|
rs753777514
|
0.00001
|
|
NM_000183.3(HADHB):c.1098A>T (p.Ala366=)
|
rs748353295
|
0.00001
|
|
NM_000183.3(HADHB):c.1149+15A>G
|
rs1053513949
|
0.00001
|
|
NM_000183.3(HADHB):c.1188T>C (p.Asp396=)
|
rs541350589
|
0.00001
|
|
NM_000183.3(HADHB):c.1315A>G (p.Met439Val)
|
rs1392529342
|
0.00001
|
|
NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp)
|
rs781574694
|
0.00001
|
|
NM_000183.3(HADHB):c.1343A>G (p.Glu448Gly)
|
rs971767907
|
0.00001
|
|
NM_000183.3(HADHB):c.1390-2A>G
|
rs1297095534
|
0.00001
|
|
NM_000183.3(HADHB):c.173A>G (p.Asp58Gly)
|
rs746076418
|
0.00001
|
|
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)
|
rs780351691
|
0.00001
|
|
NM_000183.3(HADHB):c.213T>C (p.Tyr71=)
|
rs1255649817
|
0.00001
|
|
NM_000183.3(HADHB):c.230A>G (p.His77Arg)
|
rs760290863
|
0.00001
|
|
NM_000183.3(HADHB):c.254+1G>A
|
rs776172237
|
0.00001
|
|
NM_000183.3(HADHB):c.255-1G>A
|
rs112842641
|
0.00001
|
|
NM_000183.3(HADHB):c.255-2A>G
|
rs1220650950
|
0.00001
|
|
NM_000183.3(HADHB):c.423C>T (p.Ala141=)
|
rs374569092
|
0.00001
|
|
NM_000183.3(HADHB):c.443-10T>C
|
rs371257973
|
0.00001
|
|
NM_000183.3(HADHB):c.443-11G>A
|
rs777434443
|
0.00001
|
|
NM_000183.3(HADHB):c.503T>A (p.Met168Lys)
|
rs1672656422
|
0.00001
|
|
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)
|
rs552292698
|
0.00001
|
|
NM_000183.3(HADHB):c.608G>A (p.Arg203Gln)
|
rs749861331
|
0.00001
|
|
NM_000183.3(HADHB):c.618C>T (p.Phe206=)
|
rs757949243
|
0.00001
|
|
NM_000183.3(HADHB):c.635C>T (p.Pro212Leu)
|
rs758393205
|
0.00001
|
|
NM_000183.3(HADHB):c.693C>T (p.Ala231=)
|
rs768034989
|
0.00001
|
|
NM_000183.3(HADHB):c.693_696dup (p.Ala233fs)
|
rs745646607
|
0.00001
|
|
NM_000183.3(HADHB):c.735A>G (p.Ala245=)
|
rs1378842987
|
0.00001
|
|
NM_000183.3(HADHB):c.740G>A (p.Arg247His)
|
rs121913133
|
0.00001
|
|
NM_000183.3(HADHB):c.74C>T (p.Pro25Leu)
|
rs1434038212
|
0.00001
|
|
NM_000183.3(HADHB):c.809C>T (p.Pro270Leu)
|
rs767202789
|
0.00001
|
|
NM_000183.3(HADHB):c.811+11A>G
|
rs763763725
|
0.00001
|
|
NM_000183.3(HADHB):c.872A>G (p.Lys291Arg)
|
rs573709691
|
0.00001
|
|
NM_000183.3(HADHB):c.901G>A (p.Gly301Ser)
|
rs891954464
|
0.00001
|
|
NM_000183.3(HADHB):c.90C>G (p.Ser30=)
|
rs757653389
|
0.00001
|
|
NM_000183.3(HADHB):c.98G>A (p.Arg33Gln)
|
rs372980146
|
0.00001
|
|
NM_000183.3(HADHB):c.998C>T (p.Pro333Leu)
|
rs770736746
|
0.00001
|
|
NM_000252.3(MTM1):c.1008T>C (p.His336=)
|
rs1557414128
|
0.00001
|
|
NM_000252.3(MTM1):c.1080A>G (p.Val360=)
|
rs782202285
|
0.00001
|
|
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter)
|
rs587783753
|
0.00001
|
|
NM_000252.3(MTM1):c.111A>G (p.Arg37=)
|
rs2038979283
|
0.00001
|
|
NM_000252.3(MTM1):c.1131C>T (p.Asp377=)
|
rs1557414507
|
0.00001
|
|
NM_000252.3(MTM1):c.1194G>A (p.Arg398=)
|
rs1557414516
|
0.00001
|
|
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val)
|
rs373788741
|
0.00001
|
|
NM_000252.3(MTM1):c.1260+7A>T
|
rs782771099
|
0.00001
|
|
NM_000252.3(MTM1):c.1261-6A>G
|
rs781856399
|
0.00001
|
|
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)
|
rs587783771
|
0.00001
|
|
NM_000252.3(MTM1):c.126A>G (p.Thr42=)
|
rs782801257
|
0.00001
|
|
NM_000252.3(MTM1):c.1290C>T (p.Thr430=)
|
rs374725419
|
0.00001
|
|
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys)
|
rs782664128
|
0.00001
|
|
NM_000252.3(MTM1):c.1353+7A>C
|
rs782203723
|
0.00001
|
|
NM_000252.3(MTM1):c.1354-6G>A
|
rs1235590737
|
0.00001
|
|
NM_000252.3(MTM1):c.136+10T>G
|
rs782382879
|
0.00001
|
|
NM_000252.3(MTM1):c.136+7A>T
|
rs782025629
|
0.00001
|
|
NM_000252.3(MTM1):c.1454C>T (p.Ala485Val)
|
rs782137551
|
0.00001
|
|
NM_000252.3(MTM1):c.1457G>A (p.Arg486Gln)
|
rs782032230
|
0.00001
|
|
NM_000252.3(MTM1):c.1468-10C>T
|
rs782174623
|
0.00001
|
|
NM_000252.3(MTM1):c.1561G>A (p.Val521Ile)
|
rs782705509
|
0.00001
|
|
NM_000252.3(MTM1):c.1678C>T (p.Leu560Phe)
|
rs1557415135
|
0.00001
|
|
NM_000252.3(MTM1):c.1709G>A (p.Arg570Gln)
|
rs782469735
|
0.00001
|
|
NM_000252.3(MTM1):c.1719A>G (p.Glu573=)
|
rs1557415144
|
0.00001
|
|
NM_000252.3(MTM1):c.1740C>G (p.Ala580=)
|
rs782365703
|
0.00001
|
|
NM_000252.3(MTM1):c.231+10A>G
|
rs1231679121
|
0.00001
|
|
NM_000252.3(MTM1):c.258T>C (p.Pro86=)
|
rs782702345
|
0.00001
|
|
NM_000252.3(MTM1):c.272C>T (p.Ser91Leu)
|
rs782148152
|
0.00001
|
|
NM_000252.3(MTM1):c.420C>T (p.Tyr140=)
|
rs587783825
|
0.00001
|
|
NM_000252.3(MTM1):c.426T>C (p.Phe142=)
|
rs1443261976
|
0.00001
|
|
NM_000252.3(MTM1):c.444+16C>G
|
rs1057523163
|
0.00001
|
|
NM_000252.3(MTM1):c.447A>G (p.Pro149=)
|
rs782149231
|
0.00001
|
|
NM_000252.3(MTM1):c.539A>G (p.Asn180Ser)
|
rs781995404
|
0.00001
|
|
NM_000252.3(MTM1):c.570G>A (p.Lys190=)
|
rs782411810
|
0.00001
|
|
NM_000252.3(MTM1):c.603T>C (p.Leu201=)
|
rs1557413854
|
0.00001
|
|
NM_000252.3(MTM1):c.646G>A (p.Val216Ile)
|
rs782156492
|
0.00001
|
|
NM_000252.3(MTM1):c.65C>T (p.Thr22Met)
|
rs781886721
|
0.00001
|
|
NM_000252.3(MTM1):c.681G>C (p.Val227=)
|
rs1557413955
|
0.00001
|
|
NM_000252.3(MTM1):c.783C>T (p.Leu261=)
|
rs187394611
|
0.00001
|
|
NM_000252.3(MTM1):c.788T>G (p.Val263Gly)
|
rs782573475
|
0.00001
|
|
NM_000252.3(MTM1):c.867+4A>T
|
rs1322584849
|
0.00001
|
|
NM_000252.3(MTM1):c.867+8G>A
|
rs782431909
|
0.00001
|
|
NM_000252.3(MTM1):c.868-9del
|
rs1372652199
|
0.00001
|
|
NM_000252.3(MTM1):c.885T>C (p.Tyr295=)
|
rs1017890631
|
0.00001
|
|
NM_000252.3(MTM1):c.909C>T (p.Asn303=)
|
rs199984259
|
0.00001
|
|
NM_000252.3(MTM1):c.911C>T (p.Ala304Val)
|
rs781871854
|
0.00001
|
|
NM_000252.3(MTM1):c.931A>G (p.Ile311Val)
|
rs782444216
|
0.00001
|
|
NM_000252.3(MTM1):c.945T>C (p.His315=)
|
rs376178048
|
0.00001
|
|
NM_000252.3(MTM1):c.953G>A (p.Arg318Gln)
|
rs782462553
|
0.00001
|
|
NM_000252.3(MTM1):c.954G>C (p.Arg318=)
|
rs1557414126
|
0.00001
|
|
NM_001100.4(ACTA1):c.1050G>T (p.Ser350=)
|
rs746838863
|
0.00001
|
|
NM_001100.4(ACTA1):c.129+20G>C
|
rs758142768
|
0.00001
|
|
NM_001100.4(ACTA1):c.168G>A (p.Val56=)
|
rs765413340
|
0.00001
|
|
NM_001100.4(ACTA1):c.246T>C (p.Asp82=)
|
rs373785144
|
0.00001
|
|
NM_001100.4(ACTA1):c.24C>A (p.Thr8=)
|
rs762659680
|
0.00001
|
|
NM_001100.4(ACTA1):c.287T>C (p.Leu96Pro)
|
rs121909519
|
0.00001
|
|
NM_001100.4(ACTA1):c.30C>T (p.Leu10=)
|
rs764600500
|
0.00001
|
|
NM_001100.4(ACTA1):c.329C>T (p.Ala110Val)
|
rs970679543
|
0.00001
|
|
NM_001100.4(ACTA1):c.423G>A (p.Val141=)
|
rs553019935
|
0.00001
|
|
NM_001100.4(ACTA1):c.454+3G>T
|
rs200976037
|
0.00001
|
|
NM_001100.4(ACTA1):c.455-9C>G
|
rs772957464
|
0.00001
|
|
NM_001100.4(ACTA1):c.459C>A (p.Ile153=)
|
rs780711799
|
0.00001
|
|
NM_001100.4(ACTA1):c.460G>T (p.Val154Leu)
|
rs768144106
|
0.00001
|
|
NM_001100.4(ACTA1):c.555C>T (p.Arg185=)
|
rs759606148
|
0.00001
|
|
NM_001100.4(ACTA1):c.588T>C (p.Thr196=)
|
rs770173089
|
0.00001
|
|
NM_001100.4(ACTA1):c.606C>A (p.Phe202Leu)
|
rs1255258064
|
0.00001
|
|
NM_001100.4(ACTA1):c.616+1G>A
|
rs111812550
|
0.00001
|
|
NM_001100.4(ACTA1):c.616+5G>A
|
rs773010488
|
0.00001
|
|
NM_001100.4(ACTA1):c.622C>A (p.Arg208Ser)
|
rs148514635
|
0.00001
|
|
NM_001100.4(ACTA1):c.730C>T (p.Leu244=)
|
rs979475402
|
0.00001
|
|
NM_001100.4(ACTA1):c.744G>A (p.Gln248=)
|
rs1331857493
|
0.00001
|
|
NM_001100.4(ACTA1):c.749T>C (p.Ile250Thr)
|
rs1659954399
|
0.00001
|
|
NM_001100.4(ACTA1):c.82G>T (p.Ala28Ser)
|
rs546670743
|
0.00001
|
|
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)
|
rs770931836
|
0.00001
|
|
NM_001100.4(ACTA1):c.990+1G>T
|
rs372686280
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1010G>A (p.Arg337Gln)
|
rs771413223
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1016C>T (p.Pro339Leu)
|
rs772222290
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1048C>A (p.Arg350Ser)
|
rs779744493
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1051G>T (p.Asp351Tyr)
|
rs539760679
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1060T>C (p.Tyr354His)
|
rs1215359382
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1105A>G (p.Ile369Val)
|
rs780785524
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1112G>C (p.Cys371Ser)
|
rs1019923438
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1126A>C (p.Thr376Pro)
|
rs1048233904
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1129G>A (p.Gly377Ser)
|
rs1322919655
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1133A>G (p.Gln378Arg)
|
rs769042275
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1189G>A (p.Val397Met)
|
rs1299910198
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.121C>T (p.Arg41Trp)
|
rs775442274
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1220A>G (p.Asn407Ser)
|
rs1457792778
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.122G>A (p.Arg41Gln)
|
rs760757402
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1242C>T (p.Tyr414=)
|
rs186889885
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1248C>G (p.Ile416Met)
|
rs1291680168
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1265G>A (p.Arg422Gln)
|
rs767053257
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1291C>T (p.Pro431Ser)
|
rs755476256
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1294C>T (p.Arg432Trp)
|
rs1376646798
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.131G>C (p.Arg44Pro)
|
rs765124692
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.132C>T (p.Arg44=)
|
rs1379997853
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1331C>T (p.Pro444Leu)
|
rs1301827044
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1341T>C (p.Ala447=)
|
rs1298809117
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.1362A>C (p.Thr454=)
|
rs548640037
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.154G>A (p.Val52Ile)
|
rs1268655819
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.163G>A (p.Ala55Thr)
|
rs551460635
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.167G>A (p.Gly56Glu)
|
rs1242559901
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.16C>G (p.Gln6Glu)
|
rs752840796
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.206G>A (p.Arg69Gln)
|
rs762769253
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.210G>A (p.Pro70=)
|
rs751494294
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.222G>A (p.Ala74=)
|
rs752135049
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.252C>T (p.Cys84=)
|
rs886051334
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.266A>G (p.Gln89Arg)
|
rs1460367454
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.285C>T (p.Arg95=)
|
rs1175552889
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.291G>A (p.Leu97=)
|
rs914591905
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.309G>A (p.Ser103=)
|
rs760134475
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.319G>A (p.Ala107Thr)
|
rs944999468
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.348C>T (p.Phe116=)
|
rs1222501717
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.367C>T (p.His123Tyr)
|
rs1013537691
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.376G>A (p.Ala126Thr)
|
rs1424500883
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.44G>A (p.Gly15Asp)
|
rs746640081
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.485C>T (p.Thr162Met)
|
rs1269389678
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.491C>G (p.Thr164Arg)
|
rs1404956647
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.511G>A (p.Glu171Lys)
|
rs1485601321
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.523C>T (p.Arg175Cys)
|
rs1257424632
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.542A>C (p.Asp181Ala)
|
rs1386416146
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.557C>T (p.Ala186Val)
|
rs1435148449
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.576G>C (p.Ala192=)
|
rs1490959556
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.601C>T (p.Leu201=)
|
rs1364669643
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.606C>T (p.Ala202=)
|
rs752006739
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.607G>C (p.Gly203Arg)
|
rs944113571
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.632T>A (p.Leu211His)
|
rs924967048
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.646G>A (p.Gly216Ser)
|
rs1052506752
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.649G>A (p.Val217Met)
|
rs555158930
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.64C>G (p.Arg22Gly)
|
rs1193653136
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.666G>C (p.Lys222Asn)
|
rs745699550
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.677A>G (p.Glu226Gly)
|
rs1339316249
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.739C>A (p.Pro247Thr)
|
rs1187855959
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.757C>T (p.Leu253=)
|
rs750627612
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.775C>T (p.Arg259Cys)
|
rs780964425
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.778C>T (p.Leu260Phe)
|
rs769416249
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.793G>A (p.Gly265Ser)
|
rs764697405
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.811C>G (p.Pro271Ala)
|
rs1436431809
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.82C>T (p.His28Tyr)
|
rs2086976630
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.834C>T (p.Tyr278=)
|
rs769789834
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.844G>A (p.Ala282Thr)
|
rs375482474
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.853T>C (p.Trp285Arg)
|
rs768886246
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.867C>G (p.Ala289=)
|
rs1057524136
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.892G>A (p.Val298Met)
|
rs1002641714
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.8G>A (p.Arg3Gln)
|
rs759494469
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.901G>A (p.Ala301Thr)
|
rs540070816
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.901G>T (p.Ala301Ser)
|
rs540070816
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.914G>A (p.Gly305Asp)
|
rs2086998690
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.984C>T (p.Asp328=)
|
rs1477394894
|
0.00001
|
|
NM_001164507.2(NEB):c.21319T>C (p.Tyr7107His)
|
rs1200802961
|
0.00001
|
|
NM_001164507.2(NEB):c.21327T>G (p.Ala7109=)
|
rs777930884
|
0.00001
|
|
NM_001164507.2(NEB):c.21339G>A (p.Gln7113=)
|
rs2092597405
|
0.00001
|
|
NM_001164507.2(NEB):c.21359T>C (p.Leu7120Pro)
|
rs762447469
|
0.00001
|
|
NM_001164507.2(NEB):c.21363A>G (p.Val7121=)
|
rs202172327
|
0.00001
|
|
NM_001164507.2(NEB):c.21366C>T (p.Val7122=)
|
rs1159922407
|
0.00001
|
|
NM_001164507.2(NEB):c.21378A>G (p.Arg7126=)
|
rs1294340060
|
0.00001
|
|
NM_001164507.2(NEB):c.21392A>T (p.Lys7131Met)
|
rs530565802
|
0.00001
|
|
NM_001164507.2(NEB):c.21399A>G (p.Ala7133=)
|
rs1403704827
|
0.00001
|
|
NM_001164507.2(NEB):c.21402C>T (p.Gly7134=)
|
rs774372075
|
0.00001
|
|
NM_001164508.2(NEB):c.10016T>G (p.Val3339Gly)
|
rs778763661
|
0.00001
|
|
NM_001164508.2(NEB):c.10020A>G (p.Leu3340=)
|
rs2098551175
|
0.00001
|
|
NM_001164508.2(NEB):c.10037C>T (p.Thr3346Ile)
|
rs1560628791
|
0.00001
|
|
NM_001164508.2(NEB):c.10050T>C (p.Asp3350=)
|
rs372803182
|
0.00001
|
|
NM_001164508.2(NEB):c.10053G>A (p.Val3351=)
|
rs573971577
|
0.00001
|
|
NM_001164508.2(NEB):c.10093G>A (p.Asp3365Asn)
|
rs1181779285
|
0.00001
|
|
NM_001164508.2(NEB):c.10112A>G (p.His3371Arg)
|
rs372053480
|
0.00001
|
|
NM_001164508.2(NEB):c.10144-4C>G
|
rs1362985863
|
0.00001
|
|
NM_001164508.2(NEB):c.10144-5T>C
|
rs1454334128
|
0.00001
|
|
NM_001164508.2(NEB):c.10154A>G (p.Lys3385Arg)
|
rs186278440
|
0.00001
|
|
NM_001164508.2(NEB):c.10166A>G (p.Gln3389Arg)
|
rs2098541776
|
0.00001
|
|
NM_001164508.2(NEB):c.1019G>A (p.Gly340Asp)
|
rs1228658263
|
0.00001
|
|
NM_001164508.2(NEB):c.10223A>G (p.Lys3408Arg)
|
rs762891609
|
0.00001
|
|
NM_001164508.2(NEB):c.10257C>T (p.Tyr3419=)
|
rs745900657
|
0.00001
|
|
NM_001164508.2(NEB):c.10312G>A (p.Val3438Met)
|
rs746015217
|
0.00001
|
|
NM_001164508.2(NEB):c.10335C>G (p.Leu3445=)
|
rs188127282
|
0.00001
|
|
NM_001164508.2(NEB):c.1035+8G>A
|
rs755517435
|
0.00001
|
|
NM_001164508.2(NEB):c.10382C>A (p.Thr3461Asn)
|
rs1003683269
|
0.00001
|
|
NM_001164508.2(NEB):c.10420T>C (p.Leu3474=)
|
rs1057523427
|
0.00001
|
|
NM_001164508.2(NEB):c.10464T>C (p.Arg3488=)
|
rs776681612
|
0.00001
|
|
NM_001164508.2(NEB):c.10504A>C (p.Arg3502=)
|
rs1288766403
|
0.00001
|
|
NM_001164508.2(NEB):c.10560T>C (p.Asp3520=)
|
rs368803600
|
0.00001
|
|
NM_001164508.2(NEB):c.1056T>C (p.Tyr352=)
|
rs1057523282
|
0.00001
|
|
NM_001164508.2(NEB):c.10623C>T (p.His3541=)
|
rs753863257
|
0.00001
|
|
NM_001164508.2(NEB):c.10635G>A (p.Lys3545=)
|
rs756424328
|
0.00001
|
|
NM_001164508.2(NEB):c.10683C>T (p.Tyr3561=)
|
rs2098334069
|
0.00001
|
|
NM_001164508.2(NEB):c.10776C>T (p.Ser3592=)
|
rs1004404650
|
0.00001
|
|
NM_001164508.2(NEB):c.10800G>A (p.Leu3600=)
|
rs1189151767
|
0.00001
|
|
NM_001164508.2(NEB):c.10816C>T (p.Leu3606=)
|
rs1188058379
|
0.00001
|
|
NM_001164508.2(NEB):c.10846C>T (p.Arg3616Trp)
|
rs573036942
|
0.00001
|
|
NM_001164508.2(NEB):c.10856A>G (p.Tyr3619Cys)
|
rs1049205301
|
0.00001
|
|
NM_001164508.2(NEB):c.1086T>C (p.Asn362=)
|
rs780565107
|
0.00001
|
|
NM_001164508.2(NEB):c.10899G>A (p.Trp3633Ter)
|
rs780343350
|
0.00001
|
|
NM_001164508.2(NEB):c.10910T>C (p.Ile3637Thr)
|
rs2098276722
|
0.00001
|
|
NM_001164508.2(NEB):c.10922C>T (p.Pro3641Leu)
|
rs377027708
|
0.00001
|
|
NM_001164508.2(NEB):c.10940T>C (p.Val3647Ala)
|
rs1316575607
|
0.00001
|
|
NM_001164508.2(NEB):c.10962A>G (p.Gly3654=)
|
rs2098275422
|
0.00001
|
|
NM_001164508.2(NEB):c.10992G>C (p.Gln3664His)
|
rs1386975124
|
0.00001
|
|
NM_001164508.2(NEB):c.10993C>T (p.Arg3665Cys)
|
rs766254214
|
0.00001
|
|
NM_001164508.2(NEB):c.11049A>G (p.Ala3683=)
|
rs1373692135
|
0.00001
|
|
NM_001164508.2(NEB):c.11077-4G>A
|
rs878924060
|
0.00001
|
|
NM_001164508.2(NEB):c.11124C>T (p.Val3708=)
|
rs1381890849
|
0.00001
|
|
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=)
|
rs547109690
|
0.00001
|
|
NM_001164508.2(NEB):c.11163C>T (p.Asn3721=)
|
rs1387561363
|
0.00001
|
|
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)
|
rs928945364
|
0.00001
|
|
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln)
|
rs757027644
|
0.00001
|
|
NM_001164508.2(NEB):c.1117A>G (p.Arg373Gly)
|
rs778295273
|
0.00001
|
|
NM_001164508.2(NEB):c.11181+10_11181+11del
|
rs779015676
|
0.00001
|
|
NM_001164508.2(NEB):c.11181+3A>G
|
rs1448725511
|
0.00001
|
|
NM_001164508.2(NEB):c.1123C>T (p.Leu375=)
|
rs561542607
|
0.00001
|
|
NM_001164508.2(NEB):c.11280T>A (p.Ile3760=)
|
rs1203256202
|
0.00001
|
|
NM_001164508.2(NEB):c.11300A>G (p.Lys3767Arg)
|
rs761139484
|
0.00001
|
|
NM_001164508.2(NEB):c.11325C>T (p.Gly3775=)
|
rs1451219883
|
0.00001
|
|
NM_001164508.2(NEB):c.11394C>T (p.Ile3798=)
|
rs756403694
|
0.00001
|
|
NM_001164508.2(NEB):c.1140T>C (p.Asp380=)
|
rs752553797
|
0.00001
|
|
NM_001164508.2(NEB):c.11421G>A (p.Glu3807=)
|
rs1579378827
|
0.00001
|
|
NM_001164508.2(NEB):c.11427G>A (p.Glu3809=)
|
rs762463190
|
0.00001
|
|
NM_001164508.2(NEB):c.11429A>G (p.Lys3810Arg)
|
rs562419268
|
0.00001
|
|
NM_001164508.2(NEB):c.11439C>A (p.Thr3813=)
|
rs761510669
|
0.00001
|
|
NM_001164508.2(NEB):c.11460C>T (p.Asp3820=)
|
rs1331418124
|
0.00001
|
|
NM_001164508.2(NEB):c.11475G>A (p.Val3825=)
|
rs1489721073
|
0.00001
|
|
NM_001164508.2(NEB):c.114G>A (p.Arg38=)
|
rs1578040445
|
0.00001
|
|
NM_001164508.2(NEB):c.11506G>A (p.Asp3836Asn)
|
rs758723038
|
0.00001
|
|
NM_001164508.2(NEB):c.11506G>T (p.Asp3836Tyr)
|
rs758723038
|
0.00001
|
|
NM_001164508.2(NEB):c.1152+1G>A
|
rs398124167
|
0.00001
|
|
NM_001164508.2(NEB):c.1153-2A>G
|
rs1553609515
|
0.00001
|
|
NM_001164508.2(NEB):c.11533G>C (p.Glu3845Gln)
|
rs755390933
|
0.00001
|
|
NM_001164508.2(NEB):c.11541C>T (p.Thr3847=)
|
rs758901873
|
0.00001
|
|
NM_001164508.2(NEB):c.11582C>T (p.Ala3861Val)
|
rs773465698
|
0.00001
|
|
NM_001164508.2(NEB):c.11589C>T (p.Asp3863=)
|
rs372772607
|
0.00001
|
|
NM_001164508.2(NEB):c.11670C>T (p.Val3890=)
|
rs757703477
|
0.00001
|
|
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter)
|
rs377182240
|
0.00001
|
|
NM_001164508.2(NEB):c.11762C>T (p.Pro3921Leu)
|
rs371675358
|
0.00001
|
|
NM_001164508.2(NEB):c.11773C>T (p.Leu3925=)
|
rs1227597329
|
0.00001
|
|
NM_001164508.2(NEB):c.11777C>G (p.Ala3926Gly)
|
rs754671742
|
0.00001
|
|
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr)
|
rs772235127
|
0.00001
|
|
NM_001164508.2(NEB):c.11806-20C>T
|
rs367755249
|
0.00001
|
|
NM_001164508.2(NEB):c.11843C>T (p.Ser3948Phe)
|
rs757175445
|
0.00001
|
|
NM_001164508.2(NEB):c.11862C>T (p.Asp3954=)
|
rs1027329418
|
0.00001
|
|
NM_001164508.2(NEB):c.11883C>T (p.Ala3961=)
|
rs1227394030
|
0.00001
|
|
NM_001164508.2(NEB):c.11884A>C (p.Lys3962Gln)
|
rs1194302071
|
0.00001
|
|
NM_001164508.2(NEB):c.11893T>G (p.Ser3965Ala)
|
rs1397887930
|
0.00001
|
|
NM_001164508.2(NEB):c.11922C>T (p.Thr3974=)
|
rs1196381872
|
0.00001
|
|
NM_001164508.2(NEB):c.11946G>A (p.Met3982Ile)
|
rs2097912146
|
0.00001
|
|
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys)
|
rs745504838
|
0.00001
|
|
NM_001164508.2(NEB):c.11974A>G (p.Ile3992Val)
|
rs1465332264
|
0.00001
|
|
NM_001164508.2(NEB):c.11982C>G (p.Ile3994Met)
|
rs780157705
|
0.00001
|
|
NM_001164508.2(NEB):c.11988T>A (p.Ser3996Arg)
|
rs1377623180
|
0.00001
|
|
NM_001164508.2(NEB):c.12005A>C (p.Asp4002Ala)
|
rs1457058013
|
0.00001
|
|
NM_001164508.2(NEB):c.12018+7A>C
|
rs372905711
|
0.00001
|
|
NM_001164508.2(NEB):c.12045A>G (p.Lys4015=)
|
rs949086164
|
0.00001
|
|
NM_001164508.2(NEB):c.12132A>G (p.Glu4044=)
|
rs1430100852
|
0.00001
|
|
NM_001164508.2(NEB):c.12141C>T (p.Tyr4047=)
|
rs2097888256
|
0.00001
|
|
NM_001164508.2(NEB):c.12171G>T (p.Lys4057Asn)
|
rs747847680
|
0.00001
|
|
NM_001164508.2(NEB):c.12176C>G (p.Ser4059Cys)
|
rs1475951452
|
0.00001
|
|
NM_001164508.2(NEB):c.12192G>A (p.Met4064Ile)
|
rs776639447
|
0.00001
|
|
NM_001164508.2(NEB):c.1221C>G (p.Phe407Leu)
|
rs1033938609
|
0.00001
|
|
NM_001164508.2(NEB):c.12234T>A (p.Thr4078=)
|
rs752937326
|
0.00001
|
|
NM_001164508.2(NEB):c.12239T>C (p.Ile4080Thr)
|
rs557283717
|
0.00001
|
|
NM_001164508.2(NEB):c.12246T>C (p.Tyr4082=)
|
rs892559887
|
0.00001
|
|
NM_001164508.2(NEB):c.1225C>T (p.Leu409Phe)
|
rs373883986
|
0.00001
|
|
NM_001164508.2(NEB):c.12264A>G (p.Glu4088=)
|
rs775530422
|
0.00001
|
|
NM_001164508.2(NEB):c.12270A>G (p.Thr4090=)
|
rs1247368291
|
0.00001
|
|
NM_001164508.2(NEB):c.1227C>T (p.Leu409=)
|
rs371658494
|
0.00001
|
|
NM_001164508.2(NEB):c.12300A>G (p.Gln4100=)
|
rs757913260
|
0.00001
|
|
NM_001164508.2(NEB):c.12303A>C (p.Ala4101=)
|
rs1553882764
|
0.00001
|
|
NM_001164508.2(NEB):c.12318C>T (p.Asp4106=)
|
rs1209799302
|
0.00001
|
|
NM_001164508.2(NEB):c.1248C>T (p.Phe416=)
|
rs1576714550
|
0.00001
|
|
NM_001164508.2(NEB):c.1257+7A>G
|
rs756217803
|
0.00001
|
|
NM_001164508.2(NEB):c.12579C>T (p.Thr4193=)
|
rs1384049532
|
0.00001
|
|
NM_001164508.2(NEB):c.1257T>G (p.Asp419Glu)
|
rs549485763
|
0.00001
|
|
NM_001164508.2(NEB):c.1258-2A>G
|
rs1553608621
|
0.00001
|
|
NM_001164508.2(NEB):c.1258-9G>T
|
rs779907080
|
0.00001
|
|
NM_001164508.2(NEB):c.12639+2dup
|
rs2097758186
|
0.00001
|
|
NM_001164508.2(NEB):c.1263A>G (p.Lys421=)
|
rs371099860
|
0.00001
|
|
NM_001164508.2(NEB):c.12640-10C>T
|
rs1264692800
|
0.00001
|
|
NM_001164508.2(NEB):c.1275C>T (p.Ser425=)
|
rs1197676558
|
0.00001
|
|
NM_001164508.2(NEB):c.129G>A (p.Glu43=)
|
rs1290183134
|
0.00001
|
|
NM_001164508.2(NEB):c.1305A>G (p.Val435=)
|
rs564509638
|
0.00001
|
|
NM_001164508.2(NEB):c.13060-6A>G
|
rs1195747738
|
0.00001
|
|
NM_001164508.2(NEB):c.1312T>G (p.Phe438Val)
|
rs959840049
|
0.00001
|
|
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs)
|
rs1490309743
|
0.00001
|
|
NM_001164508.2(NEB):c.13132A>G (p.Arg4378Gly)
|
rs1189557869
|
0.00001
|
|
NM_001164508.2(NEB):c.1317G>A (p.Glu439=)
|
rs776261033
|
0.00001
|
|
NM_001164508.2(NEB):c.13251A>C (p.Val4417=)
|
rs1246456851
|
0.00001
|
|
NM_001164508.2(NEB):c.1365+2T>C
|
rs770797137
|
0.00001
|
|
NM_001164508.2(NEB):c.1365+5G>T
|
rs1553607969
|
0.00001
|
|
NM_001164508.2(NEB):c.1366A>G (p.Lys456Glu)
|
rs1484438248
|
0.00001
|
|
NM_001164508.2(NEB):c.1374C>T (p.Tyr458=)
|
rs1362599473
|
0.00001
|
|
NM_001164508.2(NEB):c.1395C>T (p.Asp465=)
|
rs759268469
|
0.00001
|
|
NM_001164508.2(NEB):c.1423A>G (p.Ile475Val)
|
rs772070576
|
0.00001
|
|
NM_001164508.2(NEB):c.1431A>G (p.Gln477=)
|
rs372236577
|
0.00001
|
|
NM_001164508.2(NEB):c.1452A>G (p.Lys484=)
|
rs2099602673
|
0.00001
|
|
NM_001164508.2(NEB):c.1470+1G>A
|
rs1220787593
|
0.00001
|
|
NM_001164508.2(NEB):c.1470C>T (p.Asp490=)
|
rs778189876
|
0.00001
|
|
NM_001164508.2(NEB):c.1471-7C>T
|
rs985833868
|
0.00001
|
|
NM_001164508.2(NEB):c.1478A>G (p.Tyr493Cys)
|
rs1576674181
|
0.00001
|
|
NM_001164508.2(NEB):c.1479C>T (p.Tyr493=)
|
rs2099599226
|
0.00001
|
|
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)
|
rs1255744452
|
0.00001
|
|
NM_001164508.2(NEB):c.1524T>C (p.Ser508=)
|
rs1032729675
|
0.00001
|
|
NM_001164508.2(NEB):c.1528G>T (p.Val510Phe)
|
rs749473348
|
0.00001
|
|
NM_001164508.2(NEB):c.1561C>A (p.Leu521Met)
|
rs750023832
|
0.00001
|
|
NM_001164508.2(NEB):c.1563G>A (p.Leu521=)
|
rs765045777
|
0.00001
|
|
NM_001164508.2(NEB):c.1569+9C>T
|
rs764085607
|
0.00001
|
|
NM_001164508.2(NEB):c.1570-18G>A
|
rs1276051107
|
0.00001
|
|
NM_001164508.2(NEB):c.1570-2del
|
rs2099590816
|
0.00001
|
|
NM_001164508.2(NEB):c.1613A>G (p.His538Arg)
|
rs925195870
|
0.00001
|
|
NM_001164508.2(NEB):c.1614T>C (p.His538=)
|
rs769074908
|
0.00001
|
|
NM_001164508.2(NEB):c.1617C>T (p.Ile539=)
|
rs747500560
|
0.00001
|
|
NM_001164508.2(NEB):c.1620C>T (p.Pro540=)
|
rs776014034
|
0.00001
|
|
NM_001164508.2(NEB):c.1621C>G (p.Pro541Ala)
|
rs1324280943
|
0.00001
|
|
NM_001164508.2(NEB):c.1648A>G (p.Lys550Glu)
|
rs756920047
|
0.00001
|
|
NM_001164508.2(NEB):c.1674+17C>T
|
rs764386144
|
0.00001
|
|
NM_001164508.2(NEB):c.1674+1G>T
|
rs750585238
|
0.00001
|
|
NM_001164508.2(NEB):c.1675-10T>C
|
rs751475228
|
0.00001
|
|
NM_001164508.2(NEB):c.1675-13T>A
|
rs780833404
|
0.00001
|
|
NM_001164508.2(NEB):c.16750A>G (p.Met5584Val)
|
rs761807814
|
0.00001
|
|
NM_001164508.2(NEB):c.16760G>A (p.Gly5587Glu)
|
rs1243813979
|
0.00001
|
|
NM_001164508.2(NEB):c.16800C>A (p.Ile5600=)
|
rs756461553
|
0.00001
|
|
NM_001164508.2(NEB):c.16814T>C (p.Val5605Ala)
|
rs527672223
|
0.00001
|
|
NM_001164508.2(NEB):c.16815C>G (p.Val5605=)
|
rs781623818
|
0.00001
|
|
NM_001164508.2(NEB):c.16824G>C (p.Thr5608=)
|
rs531949723
|
0.00001
|
|
NM_001164508.2(NEB):c.168A>T (p.Ala56=)
|
rs200297299
|
0.00001
|
|
NM_001164508.2(NEB):c.16958T>C (p.Met5653Thr)
|
rs763012000
|
0.00001
|
|
NM_001164508.2(NEB):c.16967C>T (p.Thr5656Ile)
|
rs1353681047
|
0.00001
|
|
NM_001164508.2(NEB):c.1698G>A (p.Glu566=)
|
rs1242070276
|
0.00001
|
|
NM_001164508.2(NEB):c.17013+13A>G
|
rs547891086
|
0.00001
|
|
NM_001164508.2(NEB):c.17013+20C>T
|
rs1450483092
|
0.00001
|
|
NM_001164508.2(NEB):c.17013+3A>G
|
rs200059848
|
0.00001
|
|
NM_001164508.2(NEB):c.17014-8C>T
|
rs1056538048
|
0.00001
|
|
NM_001164508.2(NEB):c.17080A>G (p.Ile5694Val)
|
rs1287787210
|
0.00001
|
|
NM_001164508.2(NEB):c.17114G>A (p.Ser5705Asn)
|
rs1179251845
|
0.00001
|
|
NM_001164508.2(NEB):c.17118+1G>A
|
rs747946275
|
0.00001
|
|
NM_001164508.2(NEB):c.17127T>C (p.Tyr5709=)
|
rs775004844
|
0.00001
|
|
NM_001164508.2(NEB):c.17156A>T (p.His5719Leu)
|
rs776095941
|
0.00001
|
|
NM_001164508.2(NEB):c.1718T>C (p.Phe573Ser)
|
rs767710795
|
0.00001
|
|
NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys)
|
rs1000108046
|
0.00001
|
|
NM_001164508.2(NEB):c.17208C>T (p.Leu5736=)
|
rs1296709078
|
0.00001
|
|
NM_001164508.2(NEB):c.17243G>A (p.Arg5748Gln)
|
rs773983252
|
0.00001
|
|
NM_001164508.2(NEB):c.17247G>C (p.Leu5749=)
|
rs564752449
|
0.00001
|
|
NM_001164508.2(NEB):c.17301C>A (p.Ile5767=)
|
rs1310753005
|
0.00001
|
|
NM_001164508.2(NEB):c.17347C>T (p.Arg5783Cys)
|
rs1037281077
|
0.00001
|
|
NM_001164508.2(NEB):c.1736C>T (p.Ala579Val)
|
rs2099581961
|
0.00001
|
|
NM_001164508.2(NEB):c.17372G>A (p.Cys5791Tyr)
|
rs780600292
|
0.00001
|
|
NM_001164508.2(NEB):c.17416G>A (p.Glu5806Lys)
|
rs748311158
|
0.00001
|
|
NM_001164508.2(NEB):c.17427C>T (p.Ser5809=)
|
rs781105258
|
0.00001
|
|
NM_001164508.2(NEB):c.17478G>A (p.Met5826Ile)
|
rs1298196178
|
0.00001
|
|
NM_001164508.2(NEB):c.17490C>T (p.Ser5830=)
|
rs1290585048
|
0.00001
|
|
NM_001164508.2(NEB):c.17508C>G (p.Ala5836=)
|
rs778186568
|
0.00001
|
|
NM_001164508.2(NEB):c.17536-17T>C
|
rs775687645
|
0.00001
|
|
NM_001164508.2(NEB):c.17545C>T (p.Arg5849Cys)
|
rs771214344
|
0.00001
|
|
NM_001164508.2(NEB):c.17573C>T (p.Thr5858Met)
|
rs747699601
|
0.00001
|
|
NM_001164508.2(NEB):c.17599G>A (p.Val5867Met)
|
rs1452637927
|
0.00001
|
|
NM_001164508.2(NEB):c.17606C>T (p.Ala5869Val)
|
rs79205344
|
0.00001
|
|
NM_001164508.2(NEB):c.17607G>A (p.Ala5869=)
|
rs761813976
|
0.00001
|
|
NM_001164508.2(NEB):c.17644C>T (p.Arg5882Trp)
|
rs769673154
|
0.00001
|
|
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln)
|
rs558345996
|
0.00001
|
|
NM_001164508.2(NEB):c.17685A>C (p.Thr5895=)
|
rs372024982
|
0.00001
|
|
NM_001164508.2(NEB):c.17728C>T (p.Leu5910=)
|
rs756046096
|
0.00001
|
|
NM_001164508.2(NEB):c.17742C>T (p.Leu5914=)
|
rs1157260383
|
0.00001
|
|
NM_001164508.2(NEB):c.1777A>G (p.Ser593Gly)
|
rs200951652
|
0.00001
|
|
NM_001164508.2(NEB):c.17844+5T>C
|
rs748989842
|
0.00001
|
|
NM_001164508.2(NEB):c.17871G>A (p.Lys5957=)
|
rs1210227956
|
0.00001
|
|
NM_001164508.2(NEB):c.17880T>A (p.Gly5960=)
|
rs776382772
|
0.00001
|
|
NM_001164508.2(NEB):c.17901G>A (p.Thr5967=)
|
rs573047672
|
0.00001
|
|
NM_001164508.2(NEB):c.17913T>A (p.Asp5971Glu)
|
rs1167894918
|
0.00001
|
|
NM_001164508.2(NEB):c.17919G>C (p.Lys5973Asn)
|
rs752928207
|
0.00001
|
|
NM_001164508.2(NEB):c.17979T>C (p.Tyr5993=)
|
rs1221781863
|
0.00001
|
|
NM_001164508.2(NEB):c.18003T>C (p.Asn6001=)
|
rs1428223666
|
0.00001
|
|
NM_001164508.2(NEB):c.18039G>A (p.Lys6013=)
|
rs749434786
|
0.00001
|
|
NM_001164508.2(NEB):c.1803T>C (p.Tyr601=)
|
rs775413813
|
0.00001
|
|
NM_001164508.2(NEB):c.18073C>T (p.Arg6025Cys)
|
rs765174060
|
0.00001
|
|
NM_001164508.2(NEB):c.18083T>C (p.Leu6028Ser)
|
rs1221212842
|
0.00001
|
|
NM_001164508.2(NEB):c.18087C>T (p.His6029=)
|
rs758797066
|
0.00001
|
|
NM_001164508.2(NEB):c.180A>C (p.Pro60=)
|
rs1247519619
|
0.00001
|
|
NM_001164508.2(NEB):c.18144C>T (p.Asp6048=)
|
rs1319860549
|
0.00001
|
|
NM_001164508.2(NEB):c.18165C>T (p.Tyr6055=)
|
rs746376570
|
0.00001
|
|
NM_001164508.2(NEB):c.18168A>G (p.Arg6056=)
|
rs756829657
|
0.00001
|
|
NM_001164508.2(NEB):c.18177G>A (p.Leu6059=)
|
rs191083610
|
0.00001
|
|
NM_001164508.2(NEB):c.18216T>C (p.Ser6072=)
|
rs766403385
|
0.00001
|
|
NM_001164508.2(NEB):c.18225T>C (p.His6075=)
|
rs2096342918
|
0.00001
|
|
NM_001164508.2(NEB):c.18262-4A>C
|
rs2096326829
|
0.00001
|
|
NM_001164508.2(NEB):c.1826T>C (p.Ile609Thr)
|
rs748239538
|
0.00001
|
|
NM_001164508.2(NEB):c.1828G>A (p.Gly610Arg)
|
rs1166853973
|
0.00001
|
|
NM_001164508.2(NEB):c.18295C>T (p.Pro6099Ser)
|
rs1269081768
|
0.00001
|
|
NM_001164508.2(NEB):c.18330T>G (p.Ile6110Met)
|
rs2096323080
|
0.00001
|
|
NM_001164508.2(NEB):c.18366+15T>G
|
rs377385674
|
0.00001
|
|
NM_001164508.2(NEB):c.18375T>C (p.Tyr6125=)
|
rs1300207920
|
0.00001
|
|
NM_001164508.2(NEB):c.18384A>G (p.Thr6128=)
|
rs1292894553
|
0.00001
|
|
NM_001164508.2(NEB):c.1839C>T (p.Ser613=)
|
rs751976783
|
0.00001
|
|
NM_001164508.2(NEB):c.18425C>T (p.Thr6142Ile)
|
rs377179553
|
0.00001
|
|
NM_001164508.2(NEB):c.18439C>T (p.His6147Tyr)
|
rs1577779523
|
0.00001
|
|
NM_001164508.2(NEB):c.18472-4C>G
|
rs756954250
|
0.00001
|
|
NM_001164508.2(NEB):c.1848C>T (p.Asp616=)
|
rs530242068
|
0.00001
|
|
NM_001164508.2(NEB):c.18504G>A (p.Lys6168=)
|
rs766623941
|
0.00001
|
|
NM_001164508.2(NEB):c.18510T>C (p.Tyr6170=)
|
rs1175502882
|
0.00001
|
|
NM_001164508.2(NEB):c.18531C>T (p.Arg6177=)
|
rs541088387
|
0.00001
|
|
NM_001164508.2(NEB):c.18542T>C (p.Ile6181Thr)
|
rs764500250
|
0.00001
|
|
NM_001164508.2(NEB):c.18543T>C (p.Ile6181=)
|
rs1358467857
|
0.00001
|
|
NM_001164508.2(NEB):c.1854C>T (p.Pro618=)
|
rs1469092630
|
0.00001
|
|
NM_001164508.2(NEB):c.18561T>C (p.Ala6187=)
|
rs374949827
|
0.00001
|
|
NM_001164508.2(NEB):c.18568G>A (p.Val6190Met)
|
rs770824743
|
0.00001
|
|
NM_001164508.2(NEB):c.18580-8C>T
|
rs199894970
|
0.00001
|
|
NM_001164508.2(NEB):c.18588C>T (p.Tyr6196=)
|
rs774109260
|
0.00001
|
|
NM_001164508.2(NEB):c.18590A>G (p.Lys6197Arg)
|
rs770466680
|
0.00001
|
|
NM_001164508.2(NEB):c.185C>T (p.Ser62Leu)
|
rs764417105
|
0.00001
|
|
NM_001164508.2(NEB):c.18613G>A (p.Gly6205Ser)
|
rs1292580496
|
0.00001
|
|
NM_001164508.2(NEB):c.18639C>T (p.Ile6213=)
|
rs534845823
|
0.00001
|
|
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)
|
rs1475648900
|
0.00001
|
|
NM_001164508.2(NEB):c.18709C>G (p.His6237Asp)
|
rs750141196
|
0.00001
|
|
NM_001164508.2(NEB):c.18738T>C (p.His6246=)
|
rs1048795026
|
0.00001
|
|
NM_001164508.2(NEB):c.18762C>T (p.His6254=)
|
rs748339284
|
0.00001
|
|
NM_001164508.2(NEB):c.18763G>A (p.Val6255Met)
|
rs781706876
|
0.00001
|
|
NM_001164508.2(NEB):c.18768G>C (p.Leu6256=)
|
rs2096147822
|
0.00001
|
|
NM_001164508.2(NEB):c.18771T>G (p.Ala6257=)
|
rs755307254
|
0.00001
|
|
NM_001164508.2(NEB):c.18811C>T (p.His6271Tyr)
|
rs932662350
|
0.00001
|
|
NM_001164508.2(NEB):c.18831G>A (p.Thr6277=)
|
rs368876425
|
0.00001
|
|
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)
|
rs539819851
|
0.00001
|
|
NM_001164508.2(NEB):c.1887C>T (p.Asn629=)
|
rs748246603
|
0.00001
|
|
NM_001164508.2(NEB):c.18891+1G>A
|
rs1443738549
|
0.00001
|
|
NM_001164508.2(NEB):c.18904G>A (p.Asp6302Asn)
|
rs766403303
|
0.00001
|
|
NM_001164508.2(NEB):c.18942T>C (p.Val6314=)
|
rs758600708
|
0.00001
|
|
NM_001164508.2(NEB):c.18996+10C>G
|
rs772798498
|
0.00001
|
|
NM_001164508.2(NEB):c.18997-9T>C
|
rs1377432083
|
0.00001
|
|
NM_001164508.2(NEB):c.19012G>A (p.Ala6338Thr)
|
rs759946299
|
0.00001
|
|
NM_001164508.2(NEB):c.1902A>G (p.Leu634=)
|
rs1284395966
|
0.00001
|
|
NM_001164508.2(NEB):c.19053C>T (p.Asp6351=)
|
rs1201126048
|
0.00001
|
|
NM_001164508.2(NEB):c.1908G>A (p.Lys636=)
|
rs780303181
|
0.00001
|
|
NM_001164508.2(NEB):c.19101+5G>A
|
rs374929094
|
0.00001
|
|
NM_001164508.2(NEB):c.19102-8G>A
|
rs768233572
|
0.00001
|
|
NM_001164508.2(NEB):c.19113A>G (p.Lys6371=)
|
rs1416844553
|
0.00001
|
|
NM_001164508.2(NEB):c.19200C>T (p.Tyr6400=)
|
rs762251090
|
0.00001
|
|
NM_001164508.2(NEB):c.19239A>G (p.Lys6413=)
|
rs1430888861
|
0.00001
|
|
NM_001164508.2(NEB):c.19242C>T (p.Ala6414=)
|
rs773178453
|
0.00001
|
|
NM_001164508.2(NEB):c.192G>A (p.Lys64=)
|
rs761189437
|
0.00001
|
|
NM_001164508.2(NEB):c.19313A>G (p.His6438Arg)
|
rs1015281617
|
0.00001
|
|
NM_001164508.2(NEB):c.19317C>T (p.Ile6439=)
|
rs754491465
|
0.00001
|
|
NM_001164508.2(NEB):c.19324C>T (p.Arg6442Trp)
|
rs746394316
|
0.00001
|
|
NM_001164508.2(NEB):c.19363C>T (p.Pro6455Ser)
|
rs377112785
|
0.00001
|
|
NM_001164508.2(NEB):c.19372G>C (p.Val6458Leu)
|
rs774608228
|
0.00001
|
|
NM_001164508.2(NEB):c.19389C>T (p.Asn6463=)
|
rs375040433
|
0.00001
|
|
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)
|
rs1553740233
|
0.00001
|
|
NM_001164508.2(NEB):c.19425C>T (p.Ile6475=)
|
rs760688816
|
0.00001
|
|
NM_001164508.2(NEB):c.19426G>A (p.Asp6476Asn)
|
rs752626000
|
0.00001
|
|
NM_001164508.2(NEB):c.19428+9G>A
|
rs770023245
|
0.00001
|
|
NM_001164508.2(NEB):c.19429-5T>C
|
rs758585933
|
0.00001
|
|
NM_001164508.2(NEB):c.1942A>T (p.Asn648Tyr)
|
rs1553592578
|
0.00001
|
|
NM_001164508.2(NEB):c.19449T>C (p.Tyr6483=)
|
rs2095483992
|
0.00001
|
|
NM_001164508.2(NEB):c.1947C>T (p.Tyr649=)
|
rs1476481410
|
0.00001
|
|
NM_001164508.2(NEB):c.19486A>G (p.Met6496Val)
|
rs1354087086
|
0.00001
|
|
NM_001164508.2(NEB):c.19558G>A (p.Glu6520Lys)
|
rs753229810
|
0.00001
|
|
NM_001164508.2(NEB):c.19572C>T (p.His6524=)
|
rs367646560
|
0.00001
|
|
NM_001164508.2(NEB):c.19575C>T (p.Pro6525=)
|
rs1361349634
|
0.00001
|
|
NM_001164508.2(NEB):c.1957C>T (p.Pro653Ser)
|
rs759215923
|
0.00001
|
|
NM_001164508.2(NEB):c.19597G>A (p.Val6533Ile)
|
rs368484176
|
0.00001
|
|
NM_001164508.2(NEB):c.19613A>T (p.Asp6538Val)
|
rs747034126
|
0.00001
|
|
NM_001164508.2(NEB):c.19624G>A (p.Asp6542Asn)
|
rs757407447
|
0.00001
|
|
NM_001164508.2(NEB):c.19626+9G>T
|
rs1293079263
|
0.00001
|
|
NM_001164508.2(NEB):c.19627-8C>T
|
rs1381633722
|
0.00001
|
|
NM_001164508.2(NEB):c.19628T>C (p.Ile6543Thr)
|
rs756123091
|
0.00001
|
|
NM_001164508.2(NEB):c.1962A>G (p.Lys654=)
|
rs373858974
|
0.00001
|
|
NM_001164508.2(NEB):c.19732-5G>A
|
rs779841022
|
0.00001
|
|
NM_001164508.2(NEB):c.19796T>C (p.Val6599Ala)
|
rs1238663844
|
0.00001
|
|
NM_001164508.2(NEB):c.19800C>T (p.Tyr6600=)
|
rs552379239
|
0.00001
|
|
NM_001164508.2(NEB):c.19809T>C (p.Ala6603=)
|
rs1011284732
|
0.00001
|
|
NM_001164508.2(NEB):c.19837-12T>C
|
rs577874679
|
0.00001
|
|
NM_001164508.2(NEB):c.19856A>G (p.Tyr6619Cys)
|
rs1367421575
|
0.00001
|
|
NM_001164508.2(NEB):c.19860G>A (p.Val6620=)
|
rs754635980
|
0.00001
|
|
NM_001164508.2(NEB):c.19894A>G (p.Lys6632Glu)
|
rs765189771
|
0.00001
|
|
NM_001164508.2(NEB):c.19903G>A (p.Asp6635Asn)
|
rs534519331
|
0.00001
|
|
NM_001164508.2(NEB):c.19939A>G (p.Ser6647Gly)
|
rs1559830688
|
0.00001
|
|
NM_001164508.2(NEB):c.19940G>T (p.Ser6647Ile)
|
rs2095355799
|
0.00001
|
|
NM_001164508.2(NEB):c.19944+7A>G
|
rs201751179
|
0.00001
|
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
|
NM_001164508.2(NEB):c.19958C>A (p.Thr6653Asn)
|
rs1379492488
|
0.00001
|
|
NM_001164508.2(NEB):c.19959C>T (p.Thr6653=)
|
rs758068690
|
0.00001
|
|
NM_001164508.2(NEB):c.19965G>A (p.Leu6655=)
|
rs1312715025
|
0.00001
|
|
NM_001164508.2(NEB):c.19967G>A (p.Arg6656His)
|
rs767200761
|
0.00001
|
|
NM_001164508.2(NEB):c.19971C>G (p.Thr6657=)
|
rs1387509005
|
0.00001
|
|
NM_001164508.2(NEB):c.19974G>A (p.Leu6658=)
|
rs1247188728
|
0.00001
|
|
NM_001164508.2(NEB):c.1998+15G>A
|
rs62174730
|
0.00001
|
|
NM_001164508.2(NEB):c.1998+19A>G
|
rs771280301
|
0.00001
|
|
NM_001164508.2(NEB):c.1998+4C>A
|
rs763334937
|
0.00001
|
|
NM_001164508.2(NEB):c.1998+5G>A
|
rs1015618560
|
0.00001
|
|
NM_001164508.2(NEB):c.1999-10T>C
|
rs2099556454
|
0.00001
|
|
NM_001164508.2(NEB):c.19998T>C (p.Gly6666=)
|
rs766522842
|
0.00001
|
|
NM_001164508.2(NEB):c.1999G>A (p.Ala667Thr)
|
rs750186349
|
0.00001
|
|
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His)
|
rs1487589344
|
0.00001
|
|
NM_001164508.2(NEB):c.20040G>C (p.Met6680Ile)
|
rs368883773
|
0.00001
|
|
NM_001164508.2(NEB):c.20052C>A (p.Phe6684Leu)
|
rs750704829
|
0.00001
|
|
NM_001164508.2(NEB):c.20089G>A (p.Gly6697Arg)
|
rs201071685
|
0.00001
|
|
NM_001164508.2(NEB):c.20122G>T (p.Val6708Phe)
|
rs1312710050
|
0.00001
|
|
NM_001164508.2(NEB):c.20150C>T (p.Thr6717Ile)
|
rs753992038
|
0.00001
|
|
NM_001164508.2(NEB):c.20151C>T (p.Thr6717=)
|
rs764509356
|
0.00001
|
|
NM_001164508.2(NEB):c.20155G>A (p.Glu6719Lys)
|
rs767886794
|
0.00001
|
|
NM_001164508.2(NEB):c.2015T>C (p.Leu672Ser)
|
rs765225625
|
0.00001
|
|
NM_001164508.2(NEB):c.20218C>A (p.Pro6740Thr)
|
rs199722285
|
0.00001
|
|
NM_001164508.2(NEB):c.20230C>A (p.Gln6744Lys)
|
rs766890449
|
0.00001
|
|
NM_001164508.2(NEB):c.20258G>A (p.Ser6753Asn)
|
rs2094881047
|
0.00001
|
|
NM_001164508.2(NEB):c.2025G>A (p.Lys675=)
|
rs1329950628
|
0.00001
|
|
NM_001164508.2(NEB):c.20268C>A (p.Ile6756=)
|
rs1433355738
|
0.00001
|
|
NM_001164508.2(NEB):c.20290A>G (p.Met6764Val)
|
rs372042301
|
0.00001
|
|
NM_001164508.2(NEB):c.20298C>G (p.Gly6766=)
|
rs747134879
|
0.00001
|
|
NM_001164508.2(NEB):c.20332A>G (p.Ile6778Val)
|
rs753409626
|
0.00001
|
|
NM_001164508.2(NEB):c.20360C>T (p.Thr6787Ile)
|
rs370099071
|
0.00001
|
|
NM_001164508.2(NEB):c.20371A>G (p.Lys6791Glu)
|
rs758370711
|
0.00001
|
|
NM_001164508.2(NEB):c.2037A>G (p.Gly679=)
|
rs770276905
|
0.00001
|
|
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys)
|
rs1014627144
|
0.00001
|
|
NM_001164508.2(NEB):c.20430T>C (p.Pro6810=)
|
rs373276952
|
0.00001
|
|
NM_001164508.2(NEB):c.20437G>A (p.Val6813Ile)
|
rs951646007
|
0.00001
|
|
NM_001164508.2(NEB):c.20467-20T>G
|
rs1323641166
|
0.00001
|
|
NM_001164508.2(NEB):c.20503C>T (p.Arg6835Ter)
|
rs370098540
|
0.00001
|
|
NM_001164508.2(NEB):c.20504G>A (p.Arg6835Gln)
|
rs201001168
|
0.00001
|
|
NM_001164508.2(NEB):c.20508C>T (p.Asp6836=)
|
rs2094611028
|
0.00001
|
|
NM_001164508.2(NEB):c.2053A>G (p.Met685Val)
|
rs370986655
|
0.00001
|
|
NM_001164508.2(NEB):c.20577+2T>C
|
rs1185654671
|
0.00001
|
|
NM_001164508.2(NEB):c.20577+9G>A
|
rs754392310
|
0.00001
|
|
NM_001164508.2(NEB):c.20578-9T>C
|
rs2094070540
|
0.00001
|
|
NM_001164508.2(NEB):c.20616C>A (p.Ile6872=)
|
rs563768825
|
0.00001
|
|
NM_001164508.2(NEB):c.20640T>G (p.Pro6880=)
|
rs748105415
|
0.00001
|
|
NM_001164508.2(NEB):c.20712G>A (p.Glu6904=)
|
rs755542829
|
0.00001
|
|
NM_001164508.2(NEB):c.20727C>T (p.His6909=)
|
rs779779886
|
0.00001
|
|
NM_001164508.2(NEB):c.20736C>T (p.Asn6912=)
|
rs1384813528
|
0.00001
|
|
NM_001164508.2(NEB):c.20745A>T (p.Thr6915=)
|
rs931241996
|
0.00001
|
|
NM_001164508.2(NEB):c.20767G>A (p.Val6923Met)
|
rs753673376
|
0.00001
|
|
NM_001164508.2(NEB):c.20777T>C (p.Met6926Thr)
|
rs763737123
|
0.00001
|
|
NM_001164508.2(NEB):c.20787+2T>C
|
rs1337287633
|
0.00001
|
|
NM_001164508.2(NEB):c.20831C>T (p.Thr6944Ile)
|
rs763942330
|
0.00001
|
|
NM_001164508.2(NEB):c.20846C>T (p.Thr6949Met)
|
rs767461697
|
0.00001
|
|
NM_001164508.2(NEB):c.20883T>C (p.Asn6961=)
|
rs576660293
|
0.00001
|
|
NM_001164508.2(NEB):c.20893-4C>T
|
rs755711568
|
0.00001
|
|
NM_001164508.2(NEB):c.20897G>A (p.Arg6966His)
|
rs767230683
|
0.00001
|
|
NM_001164508.2(NEB):c.2089G>T (p.Ala697Ser)
|
rs1317564549
|
0.00001
|
|
NM_001164508.2(NEB):c.20925A>G (p.Lys6975=)
|
rs2093498757
|
0.00001
|
|
NM_001164508.2(NEB):c.20939C>T (p.Thr6980Met)
|
rs776806977
|
0.00001
|
|
NM_001164508.2(NEB):c.20955A>T (p.Leu6985=)
|
rs774687489
|
0.00001
|
|
NM_001164508.2(NEB):c.20958C>T (p.Asp6986=)
|
rs748770036
|
0.00001
|
|
NM_001164508.2(NEB):c.20971C>T (p.Arg6991Cys)
|
rs901568718
|
0.00001
|
|
NM_001164508.2(NEB):c.20977G>A (p.Val6993Ile)
|
rs779881258
|
0.00001
|
|
NM_001164508.2(NEB):c.20998-7A>C
|
rs1408680616
|
0.00001
|
|
NM_001164508.2(NEB):c.2099A>G (p.Asn700Ser)
|
rs770240346
|
0.00001
|
|
NM_001164508.2(NEB):c.2103T>C (p.Ser701=)
|
rs535236430
|
0.00001
|
|
NM_001164508.2(NEB):c.21042G>A (p.Arg7014=)
|
rs778067687
|
0.00001
|
|
NM_001164508.2(NEB):c.21051T>C (p.Pro7017=)
|
rs767655200
|
0.00001
|
|
NM_001164508.2(NEB):c.21075C>T (p.His7025=)
|
rs1458419547
|
0.00001
|
|
NM_001164508.2(NEB):c.21077G>A (p.Arg7026Gln)
|
rs1487630736
|
0.00001
|
|
NM_001164508.2(NEB):c.21103-5C>T
|
rs1331120255
|
0.00001
|
|
NM_001164508.2(NEB):c.21105A>G (p.Val7035=)
|
rs906097458
|
0.00001
|
|
NM_001164508.2(NEB):c.2112T>C (p.Ser704=)
|
rs776853993
|
0.00001
|
|
NM_001164508.2(NEB):c.21144T>A (p.Gly7048=)
|
rs2093339533
|
0.00001
|
|
NM_001164508.2(NEB):c.21162C>T (p.Thr7054=)
|
rs766718173
|
0.00001
|
|
NM_001164508.2(NEB):c.21196C>A (p.Leu7066Ile)
|
rs1428589113
|
0.00001
|
|
NM_001164508.2(NEB):c.21208-9T>G
|
rs757819342
|
0.00001
|
|
NM_001164508.2(NEB):c.21209A>G (p.Tyr7070Cys)
|
rs754366347
|
0.00001
|
|
NM_001164508.2(NEB):c.21269C>T (p.Pro7090Leu)
|
rs752467283
|
0.00001
|
|
NM_001164508.2(NEB):c.21301T>C (p.Leu7101=)
|
rs779321362
|
0.00001
|
|
NM_001164508.2(NEB):c.21312+5G>A
|
rs778363526
|
0.00001
|
|
NM_001164508.2(NEB):c.21312+8T>A
|
rs756535543
|
0.00001
|
|
NM_001164508.2(NEB):c.21313-2A>T
|
rs1212081578
|
0.00001
|
|
NM_001164508.2(NEB):c.21313-788A>G
|
rs146997299
|
0.00001
|
|
NM_001164508.2(NEB):c.21313-8A>G
|
rs1451057843
|
0.00001
|
|
NM_001164508.2(NEB):c.2135A>T (p.Asp712Val)
|
rs563934691
|
0.00001
|
|
NM_001164508.2(NEB):c.21370C>T (p.Arg7124Cys)
|
rs756984541
|
0.00001
|
|
NM_001164508.2(NEB):c.213C>T (p.Val71=)
|
rs745325085
|
0.00001
|
|
NM_001164508.2(NEB):c.21462C>G (p.Thr7154=)
|
rs1418109058
|
0.00001
|
|
NM_001164508.2(NEB):c.21466A>G (p.Ile7156Val)
|
rs745586435
|
0.00001
|
|
NM_001164508.2(NEB):c.21480A>G (p.Pro7160=)
|
rs1412224941
|
0.00001
|
|
NM_001164508.2(NEB):c.21497C>T (p.Thr7166Ile)
|
rs766520487
|
0.00001
|
|
NM_001164508.2(NEB):c.21513A>C (p.Gln7171His)
|
rs542149432
|
0.00001
|
|
NM_001164508.2(NEB):c.21535T>C (p.Leu7179=)
|
rs752691224
|
0.00001
|
|
NM_001164508.2(NEB):c.2154C>T (p.Phe718=)
|
rs1165258877
|
0.00001
|
|
NM_001164508.2(NEB):c.21564C>A (p.Gly7188=)
|
rs775887037
|
0.00001
|
|
NM_001164508.2(NEB):c.21566A>T (p.Tyr7189Phe)
|
rs794727042
|
0.00001
|
|
NM_001164508.2(NEB):c.21590T>C (p.Met7197Thr)
|
rs1229421352
|
0.00001
|
|
NM_001164508.2(NEB):c.21628G>A (p.Asp7210Asn)
|
rs2090426850
|
0.00001
|
|
NM_001164508.2(NEB):c.2162C>T (p.Thr721Ile)
|
rs749168085
|
0.00001
|
|
NM_001164508.2(NEB):c.21630+6T>G
|
rs1401750275
|
0.00001
|
|
NM_001164508.2(NEB):c.21631-8T>C
|
rs1394610862
|
0.00001
|
|
NM_001164508.2(NEB):c.21706G>C (p.Ala7236Pro)
|
rs777945797
|
0.00001
|
|
NM_001164508.2(NEB):c.21714C>T (p.Asp7238=)
|
rs756345641
|
0.00001
|
|
NM_001164508.2(NEB):c.21734A>G (p.Asn7245Ser)
|
rs751872533
|
0.00001
|
|
NM_001164508.2(NEB):c.21735T>C (p.Asn7245=)
|
rs568248647
|
0.00001
|
|
NM_001164508.2(NEB):c.21736-13_21743del
|
rs767772838
|
0.00001
|
|
NM_001164508.2(NEB):c.21756C>T (p.Tyr7252=)
|
rs772151729
|
0.00001
|
|
NM_001164508.2(NEB):c.21761C>A (p.Ala7254Asp)
|
rs778063345
|
0.00001
|
|
NM_001164508.2(NEB):c.21762C>T (p.Ala7254=)
|
rs1165988292
|
0.00001
|
|
NM_001164508.2(NEB):c.21765C>T (p.Asn7255=)
|
rs180903156
|
0.00001
|
|
NM_001164508.2(NEB):c.21771C>T (p.Ala7257=)
|
rs748363300
|
0.00001
|
|
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)
|
rs750900690
|
0.00001
|
|
NM_001164508.2(NEB):c.21829C>A (p.Gln7277Lys)
|
rs887471790
|
0.00001
|
|
NM_001164508.2(NEB):c.21840T>C (p.Asp7280=)
|
rs770721746
|
0.00001
|
|
NM_001164508.2(NEB):c.21841-18G>A
|
rs201961566
|
0.00001
|
|
NM_001164508.2(NEB):c.21841-6T>A
|
rs767466501
|
0.00001
|
|
NM_001164508.2(NEB):c.21906C>T (p.Asn7302=)
|
rs757845188
|
0.00001
|
|
NM_001164508.2(NEB):c.21909G>A (p.Thr7303=)
|
rs777379650
|
0.00001
|
|
NM_001164508.2(NEB):c.21915C>T (p.Leu7305=)
|
rs373945534
|
0.00001
|
|
NM_001164508.2(NEB):c.21946-9C>T
|
rs746067563
|
0.00001
|
|
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln)
|
rs756646859
|
0.00001
|
|
NM_001164508.2(NEB):c.21974A>G (p.Glu7325Gly)
|
rs1159938154
|
0.00001
|
|
NM_001164508.2(NEB):c.21976A>C (p.Arg7326=)
|
rs780790042
|
0.00001
|
|
NM_001164508.2(NEB):c.2200C>G (p.Gln734Glu)
|
rs780299519
|
0.00001
|
|
NM_001164508.2(NEB):c.22022C>T (p.Ala7341Val)
|
rs550296441
|
0.00001
|
|
NM_001164508.2(NEB):c.22023G>A (p.Ala7341=)
|
rs533246582
|
0.00001
|
|
NM_001164508.2(NEB):c.22067A>G (p.His7356Arg)
|
rs1447292730
|
0.00001
|
|
NM_001164508.2(NEB):c.22068T>C (p.His7356=)
|
rs779559380
|
0.00001
|
|
NM_001164508.2(NEB):c.22091G>A (p.Gly7364Asp)
|
rs376684415
|
0.00001
|
|
NM_001164508.2(NEB):c.22104A>T (p.Thr7368=)
|
rs756011050
|
0.00001
|
|
NM_001164508.2(NEB):c.2211+5G>T
|
rs797045736
|
0.00001
|
|
NM_001164508.2(NEB):c.22114A>C (p.Thr7372Pro)
|
rs750642580
|
0.00001
|
|
NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp)
|
rs779004876
|
0.00001
|
|
NM_001164508.2(NEB):c.22118G>A (p.Arg7373Gln)
|
rs763323693
|
0.00001
|
|
NM_001164508.2(NEB):c.22124C>G (p.Thr7375Ser)
|
rs1195608964
|
0.00001
|
|
NM_001164508.2(NEB):c.22144A>C (p.Thr7382Pro)
|
rs761232641
|
0.00001
|
|
NM_001164508.2(NEB):c.22152T>C (p.His7384=)
|
rs771582884
|
0.00001
|
|
NM_001164508.2(NEB):c.22161+17C>T
|
rs777563421
|
0.00001
|
|
NM_001164508.2(NEB):c.22161+5G>C
|
rs376988538
|
0.00001
|
|
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)
|
rs748922882
|
0.00001
|
|
NM_001164508.2(NEB):c.2217C>T (p.Thr739=)
|
rs1298727978
|
0.00001
|
|
NM_001164508.2(NEB):c.22212C>T (p.Ser7404=)
|
rs754896798
|
0.00001
|
|
NM_001164508.2(NEB):c.22219C>T (p.Leu7407=)
|
rs745959432
|
0.00001
|
|
NM_001164508.2(NEB):c.22260G>A (p.Lys7420=)
|
rs756526984
|
0.00001
|
|
NM_001164508.2(NEB):c.22272+7T>C
|
rs762551492
|
0.00001
|
|
NM_001164508.2(NEB):c.22329A>G (p.Arg7443=)
|
rs1426162103
|
0.00001
|
|
NM_001164508.2(NEB):c.22338C>T (p.Ile7446=)
|
rs2084202001
|
0.00001
|
|
NM_001164508.2(NEB):c.22374+20G>C
|
rs764649803
|
0.00001
|
|
NM_001164508.2(NEB):c.22374+6G>A
|
rs749050869
|
0.00001
|
|
NM_001164508.2(NEB):c.22375-1G>A
|
rs949331605
|
0.00001
|
|
NM_001164508.2(NEB):c.22395C>T (p.His7465=)
|
rs1411071874
|
0.00001
|
|
NM_001164508.2(NEB):c.22396C>T (p.Arg7466Cys)
|
rs768826001
|
0.00001
|
|
NM_001164508.2(NEB):c.22412A>G (p.His7471Arg)
|
rs1553641474
|
0.00001
|
|
NM_001164508.2(NEB):c.22434C>T (p.Arg7478=)
|
rs759555138
|
0.00001
|
|
NM_001164508.2(NEB):c.22439A>C (p.Asp7480Ala)
|
rs886054928
|
0.00001
|
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
|
NM_001164508.2(NEB):c.22504A>G (p.Lys7502Glu)
|
rs376495046
|
0.00001
|
|
NM_001164508.2(NEB):c.22537A>G (p.Lys7513Glu)
|
rs570049431
|
0.00001
|
|
NM_001164508.2(NEB):c.22542C>T (p.Asp7514=)
|
rs375181577
|
0.00001
|
|
NM_001164508.2(NEB):c.22591-1G>C
|
rs757157808
|
0.00001
|
|
NM_001164508.2(NEB):c.2259T>C (p.Thr753=)
|
rs764355001
|
0.00001
|
|
NM_001164508.2(NEB):c.22623C>T (p.His7541=)
|
rs751787450
|
0.00001
|
|
NM_001164508.2(NEB):c.22629C>T (p.Pro7543=)
|
rs373263895
|
0.00001
|
|
NM_001164508.2(NEB):c.22663C>T (p.His7555Tyr)
|
rs746454129
|
0.00001
|
|
NM_001164508.2(NEB):c.22672A>T (p.Asn7558Tyr)
|
rs771643485
|
0.00001
|
|
NM_001164508.2(NEB):c.22696-10T>C
|
rs1212927796
|
0.00001
|
|
NM_001164508.2(NEB):c.22696-1G>A
|
rs745511810
|
0.00001
|
|
NM_001164508.2(NEB):c.22749C>T (p.Pro7583=)
|
rs1250895200
|
0.00001
|
|
NM_001164508.2(NEB):c.22750G>A (p.Asp7584Asn)
|
rs758761216
|
0.00001
|
|
NM_001164508.2(NEB):c.22774A>C (p.Lys7592Gln)
|
rs903199022
|
0.00001
|
|
NM_001164508.2(NEB):c.22801-10C>T
|
rs1473693561
|
0.00001
|
|
NM_001164508.2(NEB):c.22801-18A>G
|
rs540306408
|
0.00001
|
|
NM_001164508.2(NEB):c.22801-7T>C
|
rs368298970
|
0.00001
|
|
NM_001164508.2(NEB):c.22801-8del
|
rs1182051750
|
0.00001
|
|
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)
|
rs555582398
|
0.00001
|
|
NM_001164508.2(NEB):c.22850A>G (p.Asp7617Gly)
|
rs776739582
|
0.00001
|
|
NM_001164508.2(NEB):c.22868A>C (p.Tyr7623Ser)
|
rs370518330
|
0.00001
|
|
NM_001164508.2(NEB):c.22905+2T>C
|
rs1553623367
|
0.00001
|
|
NM_001164508.2(NEB):c.22906-6C>T
|
rs1449487575
|
0.00001
|
|
NM_001164508.2(NEB):c.22938T>A (p.Ile7646=)
|
rs967073964
|
0.00001
|
|
NM_001164508.2(NEB):c.22951C>T (p.Leu7651=)
|
rs774527373
|
0.00001
|
|
NM_001164508.2(NEB):c.22971G>A (p.Thr7657=)
|
rs750627350
|
0.00001
|
|
NM_001164508.2(NEB):c.22974A>G (p.Pro7658=)
|
rs1270451426
|
0.00001
|
|
NM_001164508.2(NEB):c.22986T>C (p.His7662=)
|
rs149606244
|
0.00001
|
|
NM_001164508.2(NEB):c.22995T>C (p.Tyr7665=)
|
rs954547329
|
0.00001
|
|
NM_001164508.2(NEB):c.23002A>G (p.Lys7668Glu)
|
rs755548124
|
0.00001
|
|
NM_001164508.2(NEB):c.23016+1G>A
|
rs111833078
|
0.00001
|
|
NM_001164508.2(NEB):c.23016+9C>T
|
rs1387840399
|
0.00001
|
|
NM_001164508.2(NEB):c.23017-11T>A
|
rs887145332
|
0.00001
|
|
NM_001164508.2(NEB):c.23054G>A (p.Gly7685Glu)
|
rs768880396
|
0.00001
|
|
NM_001164508.2(NEB):c.2306G>A (p.Ser769Asn)
|
rs534124991
|
0.00001
|
|
NM_001164508.2(NEB):c.23079T>C (p.Asp7693=)
|
rs745425031
|
0.00001
|
|
NM_001164508.2(NEB):c.23085T>C (p.Pro7695=)
|
rs753516486
|
0.00001
|
|
NM_001164508.2(NEB):c.23127+2T>C
|
rs112610938
|
0.00001
|
|
NM_001164508.2(NEB):c.23128-5T>C
|
rs1349957816
|
0.00001
|
|
NM_001164508.2(NEB):c.23136T>C (p.Tyr7712=)
|
rs1369918746
|
0.00001
|
|
NM_001164508.2(NEB):c.23160C>G (p.Val7720=)
|
rs1271111461
|
0.00001
|
|
NM_001164508.2(NEB):c.23307G>A (p.Glu7769=)
|
rs1047502171
|
0.00001
|
|
NM_001164508.2(NEB):c.23340A>G (p.Ser7780=)
|
rs761315020
|
0.00001
|
|
NM_001164508.2(NEB):c.23359G>A (p.Glu7787Lys)
|
rs1476557676
|
0.00001
|
|
NM_001164508.2(NEB):c.23398T>C (p.Leu7800=)
|
rs781419958
|
0.00001
|
|
NM_001164508.2(NEB):c.23439G>A (p.Lys7813=)
|
rs775150466
|
0.00001
|
|
NM_001164508.2(NEB):c.23451+1G>T
|
rs1011425121
|
0.00001
|
|
NM_001164508.2(NEB):c.23556+9A>C
|
rs1226676144
|
0.00001
|
|
NM_001164508.2(NEB):c.23594T>C (p.Ile7865Thr)
|
rs2068741180
|
0.00001
|
|
NM_001164508.2(NEB):c.23596G>A (p.Gly7866Arg)
|
rs1480807112
|
0.00001
|
|
NM_001164508.2(NEB):c.23649+7A>C
|
rs370599158
|
0.00001
|
|
NM_001164508.2(NEB):c.23649G>A (p.Ser7883=)
|
rs778102984
|
0.00001
|
|
NM_001164508.2(NEB):c.23660A>C (p.Lys7887Thr)
|
rs1166941249
|
0.00001
|
|
NM_001164508.2(NEB):c.2366A>G (p.Asp789Gly)
|
rs201498216
|
0.00001
|
|
NM_001164508.2(NEB):c.23697G>A (p.Leu7899=)
|
rs1559329066
|
0.00001
|
|
NM_001164508.2(NEB):c.23703A>G (p.Glu7901=)
|
rs779612457
|
0.00001
|
|
NM_001164508.2(NEB):c.23724G>A (p.Thr7908=)
|
rs778666699
|
0.00001
|
|
NM_001164508.2(NEB):c.23764G>A (p.Gly7922Arg)
|
rs762094581
|
0.00001
|
|
NM_001164508.2(NEB):c.23765G>C (p.Gly7922Ala)
|
rs1253296856
|
0.00001
|
|
NM_001164508.2(NEB):c.23803A>G (p.Arg7935Gly)
|
rs1318564274
|
0.00001
|
|
NM_001164508.2(NEB):c.23805A>G (p.Arg7935=)
|
rs1481356421
|
0.00001
|
|
NM_001164508.2(NEB):c.23816A>G (p.Asn7939Ser)
|
rs1461067378
|
0.00001
|
|
NM_001164508.2(NEB):c.23835+15A>C
|
rs531906107
|
0.00001
|
|
NM_001164508.2(NEB):c.23836-17T>C
|
rs1353520876
|
0.00001
|
|
NM_001164508.2(NEB):c.23849A>T (p.Glu7950Val)
|
rs746929871
|
0.00001
|
|
NM_001164508.2(NEB):c.23893G>C (p.Glu7965Gln)
|
rs767969927
|
0.00001
|
|
NM_001164508.2(NEB):c.23928+10A>G
|
rs746768491
|
0.00001
|
|
NM_001164508.2(NEB):c.23932T>C (p.Leu7978=)
|
rs781522067
|
0.00001
|
|
NM_001164508.2(NEB):c.23940A>T (p.Lys7980Asn)
|
rs1055476485
|
0.00001
|
|
NM_001164508.2(NEB):c.23947T>C (p.Leu7983=)
|
rs1219012029
|
0.00001
|
|
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys)
|
rs1202510810
|
0.00001
|
|
NM_001164508.2(NEB):c.23987A>T (p.Glu7996Val)
|
rs1312647029
|
0.00001
|
|
NM_001164508.2(NEB):c.24020C>T (p.Ser8007Leu)
|
rs763365852
|
0.00001
|
|
NM_001164508.2(NEB):c.24021+8G>A
|
rs1361035933
|
0.00001
|
|
NM_001164508.2(NEB):c.24022-1G>C
|
rs1553561697
|
0.00001
|
|
NM_001164508.2(NEB):c.24039C>T (p.Asn8013=)
|
rs554603516
|
0.00001
|
|
NM_001164508.2(NEB):c.24114+8A>C
|
rs979788051
|
0.00001
|
|
NM_001164508.2(NEB):c.24115G>T (p.Val8039Leu)
|
rs1037262755
|
0.00001
|
|
NM_001164508.2(NEB):c.2415+13G>A
|
rs775842716
|
0.00001
|
|
NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter)
|
rs1323364980
|
0.00001
|
|
NM_001164508.2(NEB):c.24198C>A (p.Asn8066Lys)
|
rs2061715771
|
0.00001
|
|
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=)
|
rs763193315
|
0.00001
|
|
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs)
|
rs1553552413
|
0.00001
|
|
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)
|
rs756726488
|
0.00001
|
|
NM_001164508.2(NEB):c.24216C>T (p.Tyr8072=)
|
rs376221776
|
0.00001
|
|
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)
|
rs1218073575
|
0.00001
|
|
NM_001164508.2(NEB):c.24254C>G (p.Thr8085Ser)
|
rs1297487988
|
0.00001
|
|
NM_001164508.2(NEB):c.24258C>T (p.Pro8086=)
|
rs1400587382
|
0.00001
|
|
NM_001164508.2(NEB):c.24262A>G (p.Met8088Val)
|
rs746180925
|
0.00001
|
|
NM_001164508.2(NEB):c.24293T>C (p.Ile8098Thr)
|
rs372228043
|
0.00001
|
|
NM_001164508.2(NEB):c.24295A>T (p.Ser8099Cys)
|
rs1489581077
|
0.00001
|
|
NM_001164508.2(NEB):c.24300+1G>A
|
rs1366853918
|
0.00001
|
|
NM_001164508.2(NEB):c.24301-7C>T
|
rs755582434
|
0.00001
|
|
NM_001164508.2(NEB):c.24306A>C (p.Leu8102Phe)
|
rs1217235799
|
0.00001
|
|
NM_001164508.2(NEB):c.24345C>T (p.Val8115=)
|
rs922674535
|
0.00001
|
|
NM_001164508.2(NEB):c.24351T>C (p.Pro8117=)
|
rs1178940302
|
0.00001
|
|
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)
|
rs1257495033
|
0.00001
|
|
NM_001164508.2(NEB):c.2437G>A (p.Glu813Lys)
|
rs752442261
|
0.00001
|
|
NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp)
|
rs960735572
|
0.00001
|
|
NM_001164508.2(NEB):c.24393+19A>G
|
rs999752806
|
0.00001
|
|
NM_001164508.2(NEB):c.24393+1G>A
|
rs775631800
|
0.00001
|
|
NM_001164508.2(NEB):c.24393G>A (p.Ser8131=)
|
rs527744844
|
0.00001
|
|
NM_001164508.2(NEB):c.24394-5C>G
|
rs780723893
|
0.00001
|
|
NM_001164508.2(NEB):c.24394-6G>A
|
rs1160511236
|
0.00001
|
|
NM_001164508.2(NEB):c.24394-7C>T
|
rs747680930
|
0.00001
|
|
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs)
|
rs762133567
|
0.00001
|
|
NM_001164508.2(NEB):c.24402C>T (p.Tyr8134=)
|
rs758277406
|
0.00001
|
|
NM_001164508.2(NEB):c.24413T>C (p.Met8138Thr)
|
rs1320244420
|
0.00001
|
|
NM_001164508.2(NEB):c.2442G>A (p.Lys814=)
|
rs538990928
|
0.00001
|
|
NM_001164508.2(NEB):c.24486+8G>A
|
rs756949795
|
0.00001
|
|
NM_001164508.2(NEB):c.24486G>A (p.Ser8162=)
|
rs1230102324
|
0.00001
|
|
NM_001164508.2(NEB):c.24487-13T>C
|
rs2058626028
|
0.00001
|
|
NM_001164508.2(NEB):c.24493T>C (p.Tyr8165His)
|
rs775139388
|
0.00001
|
|
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu)
|
rs398124169
|
0.00001
|
|
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)
|
rs555445835
|
0.00001
|
|
NM_001164508.2(NEB):c.24528T>C (p.Pro8176=)
|
rs780085645
|
0.00001
|
|
NM_001164508.2(NEB):c.2454G>A (p.Lys818=)
|
rs1238118025
|
0.00001
|
|
NM_001164508.2(NEB):c.24580-8T>C
|
rs1040110151
|
0.00001
|
|
NM_001164508.2(NEB):c.24673-9C>T
|
rs765830534
|
0.00001
|
|
NM_001164508.2(NEB):c.24696A>G (p.Arg8232=)
|
rs1353296146
|
0.00001
|
|
NM_001164508.2(NEB):c.24708G>A (p.Pro8236=)
|
rs768683537
|
0.00001
|
|
NM_001164508.2(NEB):c.24729G>A (p.Met8243Ile)
|
rs2058043130
|
0.00001
|
|
NM_001164508.2(NEB):c.24738T>C (p.Ala8246=)
|
rs1057524338
|
0.00001
|
|
NM_001164508.2(NEB):c.24743G>A (p.Arg8248His)
|
rs781388562
|
0.00001
|
|
NM_001164508.2(NEB):c.24765+10A>G
|
rs761427890
|
0.00001
|
|
NM_001164508.2(NEB):c.24765+13A>G
|
rs1357923263
|
0.00001
|
|
NM_001164508.2(NEB):c.24771T>G (p.Leu8257=)
|
rs1298212749
|
0.00001
|
|
NM_001164508.2(NEB):c.24828C>A (p.Thr8276=)
|
rs1231234319
|
0.00001
|
|
NM_001164508.2(NEB):c.24831C>T (p.Pro8277=)
|
rs1170681985
|
0.00001
|
|
NM_001164508.2(NEB):c.24862C>T (p.His8288Tyr)
|
rs1174473779
|
0.00001
|
|
NM_001164508.2(NEB):c.24873+7C>T
|
rs372378614
|
0.00001
|
|
NM_001164508.2(NEB):c.2488T>C (p.Leu830=)
|
rs747186813
|
0.00001
|
|
NM_001164508.2(NEB):c.24918A>C (p.Thr8306=)
|
rs751387280
|
0.00001
|
|
NM_001164508.2(NEB):c.24933T>C (p.Asp8311=)
|
rs1346509416
|
0.00001
|
|
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter)
|
rs758327681
|
0.00001
|
|
NM_001164508.2(NEB):c.249C>T (p.Thr83=)
|
rs200936927
|
0.00001
|
|
NM_001164508.2(NEB):c.25057+7G>A
|
rs928603766
|
0.00001
|
|
NM_001164508.2(NEB):c.25063C>T (p.Arg8355Cys)
|
rs745632829
|
0.00001
|
|
NM_001164508.2(NEB):c.25065T>C (p.Arg8355=)
|
rs1290219667
|
0.00001
|
|
NM_001164508.2(NEB):c.25072C>T (p.Arg8358Cys)
|
rs757107530
|
0.00001
|
|
NM_001164508.2(NEB):c.25089G>A (p.Ser8363=)
|
rs766453942
|
0.00001
|
|
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=)
|
rs763433145
|
0.00001
|
|
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs)
|
rs1472403020
|
0.00001
|
|
NM_001164508.2(NEB):c.25150+3G>A
|
rs556224656
|
0.00001
|
|
NM_001164508.2(NEB):c.25167G>C (p.Arg8389=)
|
rs2055496981
|
0.00001
|
|
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter)
|
rs747179265
|
0.00001
|
|
NM_001164508.2(NEB):c.25194T>C (p.Ser8398=)
|
rs1295808591
|
0.00001
|
|
NM_001164508.2(NEB):c.2520C>T (p.Ser840=)
|
rs757826030
|
0.00001
|
|
NM_001164508.2(NEB):c.25219G>A (p.Glu8407Lys)
|
rs766943894
|
0.00001
|
|
NM_001164508.2(NEB):c.25221G>A (p.Glu8407=)
|
rs759047810
|
0.00001
|
|
NM_001164508.2(NEB):c.2523+5G>C
|
rs755864993
|
0.00001
|
|
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu)
|
rs949111967
|
0.00001
|
|
NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter)
|
rs1433028646
|
0.00001
|
|
NM_001164508.2(NEB):c.25278T>A (p.Gly8426=)
|
rs779322634
|
0.00001
|
|
NM_001164508.2(NEB):c.25297+16G>A
|
rs1258470846
|
0.00001
|
|
NM_001164508.2(NEB):c.25298-12_25298-10del
|
rs1296705502
|
0.00001
|
|
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter)
|
rs778104284
|
0.00001
|
|
NM_001164508.2(NEB):c.25332A>G (p.Gln8444=)
|
rs748525509
|
0.00001
|
|
NM_001164508.2(NEB):c.2533A>G (p.Lys845Glu)
|
rs772154599
|
0.00001
|
|
NM_001164508.2(NEB):c.25405-3T>G
|
rs1222497271
|
0.00001
|
|
NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter)
|
rs1242654062
|
0.00001
|
|
NM_001164508.2(NEB):c.25431T>C (p.Tyr8477=)
|
rs1407162161
|
0.00001
|
|
NM_001164508.2(NEB):c.25433T>C (p.Met8478Thr)
|
rs141449286
|
0.00001
|
|
NM_001164508.2(NEB):c.25521T>C (p.Thr8507=)
|
rs1415304405
|
0.00001
|
|
NM_001164508.2(NEB):c.25524G>A (p.Val8508=)
|
rs1574250751
|
0.00001
|
|
NM_001164508.2(NEB):c.25543G>A (p.Gly8515Arg)
|
rs776932788
|
0.00001
|
|
NM_001164508.2(NEB):c.25563C>T (p.Tyr8521=)
|
rs746382045
|
0.00001
|
|
NM_001164508.2(NEB):c.2579G>A (p.Ser860Asn)
|
rs1368018193
|
0.00001
|
|
NM_001164508.2(NEB):c.2593C>T (p.Pro865Ser)
|
rs751373246
|
0.00001
|
|
NM_001164508.2(NEB):c.2648G>A (p.Arg883Gln)
|
rs751875993
|
0.00001
|
|
NM_001164508.2(NEB):c.2700C>T (p.Leu900=)
|
rs2099481133
|
0.00001
|
|
NM_001164508.2(NEB):c.2742C>T (p.Asp914=)
|
rs766761991
|
0.00001
|
|
NM_001164508.2(NEB):c.2748T>C (p.Asp916=)
|
rs765482394
|
0.00001
|
|
NM_001164508.2(NEB):c.2755C>G (p.His919Asp)
|
rs373168257
|
0.00001
|
|
NM_001164508.2(NEB):c.2784del (p.Asp929fs)
|
rs786204430
|
0.00001
|
|
NM_001164508.2(NEB):c.2892T>C (p.Phe964=)
|
rs762595663
|
0.00001
|
|
NM_001164508.2(NEB):c.2909A>T (p.Glu970Val)
|
rs1337927808
|
0.00001
|
|
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)
|
rs1553548666
|
0.00001
|
|
NM_001164508.2(NEB):c.2923G>A (p.Ala975Thr)
|
rs917645712
|
0.00001
|
|
NM_001164508.2(NEB):c.2930A>G (p.Asp977Gly)
|
rs1414304435
|
0.00001
|
|
NM_001164508.2(NEB):c.2931C>T (p.Asp977=)
|
rs1576205507
|
0.00001
|
|
NM_001164508.2(NEB):c.2939A>G (p.Asn980Ser)
|
rs778993104
|
0.00001
|
|
NM_001164508.2(NEB):c.294+1G>A
|
rs759956258
|
0.00001
|
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
|
NM_001164508.2(NEB):c.2943+1G>A
|
rs113091511
|
0.00001
|
|
NM_001164508.2(NEB):c.2946A>G (p.Lys982=)
|
rs749332680
|
0.00001
|
|
NM_001164508.2(NEB):c.295-2A>G
|
rs1428300892
|
0.00001
|
|
NM_001164508.2(NEB):c.2954G>A (p.Arg985His)
|
rs769987120
|
0.00001
|
|
NM_001164508.2(NEB):c.2968A>G (p.Thr990Ala)
|
rs1043417027
|
0.00001
|
|
NM_001164508.2(NEB):c.2979T>C (p.Phe993=)
|
rs780408206
|
0.00001
|
|
NM_001164508.2(NEB):c.2985G>A (p.Ser995=)
|
rs574544074
|
0.00001
|
|
NM_001164508.2(NEB):c.2994T>C (p.Asp998=)
|
rs1278192732
|
0.00001
|
|
NM_001164508.2(NEB):c.2998C>T (p.Pro1000Ser)
|
rs763910385
|
0.00001
|
|
NM_001164508.2(NEB):c.3042+8T>C
|
rs190108219
|
0.00001
|
|
NM_001164508.2(NEB):c.3043-16T>A
|
rs767501380
|
0.00001
|
|
NM_001164508.2(NEB):c.3077A>G (p.His1026Arg)
|
rs377244662
|
0.00001
|
|
NM_001164508.2(NEB):c.3078C>T (p.His1026=)
|
rs768759490
|
0.00001
|
|
NM_001164508.2(NEB):c.3105C>T (p.Pro1035=)
|
rs778589014
|
0.00001
|
|
NM_001164508.2(NEB):c.3131C>G (p.Ala1044Gly)
|
rs748741238
|
0.00001
|
|
NM_001164508.2(NEB):c.3132C>T (p.Ala1044=)
|
rs1576093509
|
0.00001
|
|
NM_001164508.2(NEB):c.3147+18C>T
|
rs369903833
|
0.00001
|
|
NM_001164508.2(NEB):c.3155A>G (p.Tyr1052Cys)
|
rs758214665
|
0.00001
|
|
NM_001164508.2(NEB):c.3165C>T (p.Asp1055=)
|
rs1448712345
|
0.00001
|
|
NM_001164508.2(NEB):c.3168G>T (p.Leu1056Phe)
|
rs1254743889
|
0.00001
|
|
NM_001164508.2(NEB):c.3207T>G (p.Asp1069Glu)
|
rs1419430871
|
0.00001
|
|
NM_001164508.2(NEB):c.3224C>A (p.Ala1075Asp)
|
rs574309369
|
0.00001
|
|
NM_001164508.2(NEB):c.3224C>T (p.Ala1075Val)
|
rs574309369
|
0.00001
|
|
NM_001164508.2(NEB):c.3240G>A (p.Arg1080=)
|
rs376636568
|
0.00001
|
|
NM_001164508.2(NEB):c.3248C>T (p.Ala1083Val)
|
rs532130242
|
0.00001
|
|
NM_001164508.2(NEB):c.3249G>A (p.Ala1083=)
|
rs901066301
|
0.00001
|
|
NM_001164508.2(NEB):c.3255+2dup
|
rs1276026682
|
0.00001
|
|
NM_001164508.2(NEB):c.3260A>G (p.Gln1087Arg)
|
rs753378097
|
0.00001
|
|
NM_001164508.2(NEB):c.3275A>C (p.Tyr1092Ser)
|
rs771687432
|
0.00001
|
|
NM_001164508.2(NEB):c.3349G>A (p.Val1117Met)
|
rs1404806019
|
0.00001
|
|
NM_001164508.2(NEB):c.334C>A (p.Pro112Thr)
|
rs369292364
|
0.00001
|
|
NM_001164508.2(NEB):c.3371G>A (p.Arg1124Gln)
|
rs750762588
|
0.00001
|
|
NM_001164508.2(NEB):c.3372G>A (p.Arg1124=)
|
rs779300537
|
0.00001
|
|
NM_001164508.2(NEB):c.3373G>C (p.Glu1125Gln)
|
rs757784515
|
0.00001
|
|
NM_001164508.2(NEB):c.3379A>G (p.Lys1127Glu)
|
rs1180667550
|
0.00001
|
|
NM_001164508.2(NEB):c.3390T>C (p.Tyr1130=)
|
rs767079113
|
0.00001
|
|
NM_001164508.2(NEB):c.33G>A (p.Val11=)
|
rs1269024269
|
0.00001
|
|
NM_001164508.2(NEB):c.3435T>C (p.Asn1145=)
|
rs376524766
|
0.00001
|
|
NM_001164508.2(NEB):c.3439G>A (p.Val1147Met)
|
rs757659868
|
0.00001
|
|
NM_001164508.2(NEB):c.3516T>G (p.Pro1172=)
|
rs1471310622
|
0.00001
|
|
NM_001164508.2(NEB):c.3519C>T (p.Asp1173=)
|
rs376512820
|
0.00001
|
|
NM_001164508.2(NEB):c.3532G>A (p.Glu1178Lys)
|
rs774703099
|
0.00001
|
|
NM_001164508.2(NEB):c.3547A>G (p.Met1183Val)
|
rs371816204
|
0.00001
|
|
NM_001164508.2(NEB):c.3568-10A>G
|
rs774345653
|
0.00001
|
|
NM_001164508.2(NEB):c.3568-6C>T
|
rs1296240815
|
0.00001
|
|
NM_001164508.2(NEB):c.3633C>T (p.Leu1211=)
|
rs766661319
|
0.00001
|
|
NM_001164508.2(NEB):c.3679A>C (p.Lys1227Gln)
|
rs769891018
|
0.00001
|
|
NM_001164508.2(NEB):c.3684C>T (p.Tyr1228=)
|
rs2099380911
|
0.00001
|
|
NM_001164508.2(NEB):c.3687G>A (p.Arg1229=)
|
rs2099380866
|
0.00001
|
|
NM_001164508.2(NEB):c.37-1G>A
|
rs1428597732
|
0.00001
|
|
NM_001164508.2(NEB):c.37-8A>G
|
rs770174815
|
0.00001
|
|
NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu)
|
rs537769519
|
0.00001
|
|
NM_001164508.2(NEB):c.3756C>T (p.Asn1252=)
|
rs755915064
|
0.00001
|
|
NM_001164508.2(NEB):c.3758C>T (p.Thr1253Met)
|
rs767433330
|
0.00001
|
|
NM_001164508.2(NEB):c.3774+9A>G
|
rs777079728
|
0.00001
|
|
NM_001164508.2(NEB):c.3774T>C (p.Asp1258=)
|
rs761903657
|
0.00001
|
|
NM_001164508.2(NEB):c.3775-8T>C
|
rs1470998589
|
0.00001
|
|
NM_001164508.2(NEB):c.3780A>G (p.Leu1260=)
|
rs747924696
|
0.00001
|
|
NM_001164508.2(NEB):c.3816C>T (p.Tyr1272=)
|
rs765183358
|
0.00001
|
|
NM_001164508.2(NEB):c.3867C>T (p.Tyr1289=)
|
rs1010944283
|
0.00001
|
|
NM_001164508.2(NEB):c.3879+1G>A
|
rs746999970
|
0.00001
|
|
NM_001164508.2(NEB):c.390T>A (p.Asp130Glu)
|
rs2099787749
|
0.00001
|
|
NM_001164508.2(NEB):c.3969G>A (p.Ser1323=)
|
rs933068354
|
0.00001
|
|
NM_001164508.2(NEB):c.3987T>C (p.Asp1329=)
|
rs764778381
|
0.00001
|
|
NM_001164508.2(NEB):c.3988-15A>G
|
rs1159293402
|
0.00001
|
|
NM_001164508.2(NEB):c.3995A>G (p.Tyr1332Cys)
|
rs770929631
|
0.00001
|
|
NM_001164508.2(NEB):c.4003G>A (p.Ala1335Thr)
|
rs1219059740
|
0.00001
|
|
NM_001164508.2(NEB):c.4020G>A (p.Lys1340=)
|
rs776811136
|
0.00001
|
|
NM_001164508.2(NEB):c.4060A>G (p.Lys1354Glu)
|
rs371454282
|
0.00001
|
|
NM_001164508.2(NEB):c.4079A>G (p.Asn1360Ser)
|
rs774219262
|
0.00001
|
|
NM_001164508.2(NEB):c.408G>A (p.Lys136=)
|
rs781228798
|
0.00001
|
|
NM_001164508.2(NEB):c.4094A>T (p.Gln1365Leu)
|
rs375155384
|
0.00001
|
|
NM_001164508.2(NEB):c.4102C>T (p.Arg1368Cys)
|
rs772128314
|
0.00001
|
|
NM_001164508.2(NEB):c.4109A>G (p.Tyr1370Cys)
|
rs1230970164
|
0.00001
|
|
NM_001164508.2(NEB):c.4122T>C (p.Tyr1374=)
|
rs778135952
|
0.00001
|
|
NM_001164508.2(NEB):c.413G>A (p.Arg138Gln)
|
rs747423578
|
0.00001
|
|
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg)
|
rs762809955
|
0.00001
|
|
NM_001164508.2(NEB):c.4166G>A (p.Ser1389Asn)
|
rs534646949
|
0.00001
|
|
NM_001164508.2(NEB):c.4218A>G (p.Lys1406=)
|
rs754513702
|
0.00001
|
|
NM_001164508.2(NEB):c.4227G>A (p.Leu1409=)
|
rs1414666715
|
0.00001
|
|
NM_001164508.2(NEB):c.4229A>G (p.His1410Arg)
|
rs758328454
|
0.00001
|
|
NM_001164508.2(NEB):c.422G>T (p.Gly141Val)
|
rs973669056
|
0.00001
|
|
NM_001164508.2(NEB):c.4233T>G (p.His1411Gln)
|
rs2099312487
|
0.00001
|
|
NM_001164508.2(NEB):c.4243C>T (p.Leu1415=)
|
rs749514411
|
0.00001
|
|
NM_001164508.2(NEB):c.4299+9G>A
|
rs746505680
|
0.00001
|
|
NM_001164508.2(NEB):c.4326C>T (p.Ser1442=)
|
rs1196827078
|
0.00001
|
|
NM_001164508.2(NEB):c.4337G>A (p.Gly1446Asp)
|
rs541803470
|
0.00001
|
|
NM_001164508.2(NEB):c.4375A>G (p.Lys1459Glu)
|
rs371542110
|
0.00001
|
|
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=)
|
rs755877926
|
0.00001
|
|
NM_001164508.2(NEB):c.4443C>T (p.Phe1481=)
|
rs764603716
|
0.00001
|
|
NM_001164508.2(NEB):c.4478C>T (p.Ala1493Val)
|
rs772819515
|
0.00001
|
|
NM_001164508.2(NEB):c.447C>T (p.His149=)
|
rs2099785791
|
0.00001
|
|
NM_001164508.2(NEB):c.4485T>C (p.His1495=)
|
rs781005189
|
0.00001
|
|
NM_001164508.2(NEB):c.4507-3T>C
|
rs747017871
|
0.00001
|
|
NM_001164508.2(NEB):c.452A>T (p.Asp151Val)
|
rs2099785772
|
0.00001
|
|
NM_001164508.2(NEB):c.453T>C (p.Asp151=)
|
rs759482454
|
0.00001
|
|
NM_001164508.2(NEB):c.4555G>A (p.Asp1519Asn)
|
rs781655186
|
0.00001
|
|
NM_001164508.2(NEB):c.4596C>T (p.Ala1532=)
|
rs1258108366
|
0.00001
|
|
NM_001164508.2(NEB):c.4611+10T>C
|
rs1400897392
|
0.00001
|
|
NM_001164508.2(NEB):c.4655A>G (p.Tyr1552Cys)
|
rs1257025966
|
0.00001
|
|
NM_001164508.2(NEB):c.4670A>G (p.Asp1557Gly)
|
rs774802662
|
0.00001
|
|
NM_001164508.2(NEB):c.4693A>G (p.Lys1565Glu)
|
rs767580883
|
0.00001
|
|
NM_001164508.2(NEB):c.4736C>A (p.Ala1579Asp)
|
rs751602407
|
0.00001
|
|
NM_001164508.2(NEB):c.4740C>T (p.Tyr1580=)
|
rs766168868
|
0.00001
|
|
NM_001164508.2(NEB):c.4789C>T (p.Pro1597Ser)
|
rs772492791
|
0.00001
|
|
NM_001164508.2(NEB):c.4839G>A (p.Glu1613=)
|
rs762749537
|
0.00001
|
|
NM_001164508.2(NEB):c.4859C>T (p.Ala1620Val)
|
rs2099215851
|
0.00001
|
|
NM_001164508.2(NEB):c.4877A>G (p.His1626Arg)
|
rs1374856817
|
0.00001
|
|
NM_001164508.2(NEB):c.4894G>A (p.Val1632Ile)
|
rs1575593044
|
0.00001
|
|
NM_001164508.2(NEB):c.4896C>G (p.Val1632=)
|
rs373861490
|
0.00001
|
|
NM_001164508.2(NEB):c.4939G>A (p.Ala1647Thr)
|
rs566604130
|
0.00001
|
|
NM_001164508.2(NEB):c.4941C>T (p.Ala1647=)
|
rs936549495
|
0.00001
|
|
NM_001164508.2(NEB):c.4958A>G (p.Tyr1653Cys)
|
rs921123148
|
0.00001
|
|
NM_001164508.2(NEB):c.4968C>T (p.Tyr1656=)
|
rs766716265
|
0.00001
|
|
NM_001164508.2(NEB):c.4983T>C (p.Asp1661=)
|
rs1420378434
|
0.00001
|
|
NM_001164508.2(NEB):c.5032-20T>A
|
rs775020469
|
0.00001
|
|
NM_001164508.2(NEB):c.5049C>G (p.Asp1683Glu)
|
rs777670525
|
0.00001
|
|
NM_001164508.2(NEB):c.5056A>G (p.Asn1686Asp)
|
rs369533357
|
0.00001
|
|
NM_001164508.2(NEB):c.508-6G>C
|
rs374227241
|
0.00001
|
|
NM_001164508.2(NEB):c.5087T>C (p.Ile1696Thr)
|
rs937014596
|
0.00001
|
|
NM_001164508.2(NEB):c.5091G>C (p.Glu1697Asp)
|
rs1349969572
|
0.00001
|
|
NM_001164508.2(NEB):c.5123G>A (p.Gly1708Glu)
|
rs971655417
|
0.00001
|
|
NM_001164508.2(NEB):c.5184C>T (p.Ala1728=)
|
rs756600687
|
0.00001
|
|
NM_001164508.2(NEB):c.5239-6T>C
|
rs1390540636
|
0.00001
|
|
NM_001164508.2(NEB):c.5326C>A (p.Gln1776Lys)
|
rs1306269352
|
0.00001
|
|
NM_001164508.2(NEB):c.533A>G (p.Asp178Gly)
|
rs779306921
|
0.00001
|
|
NM_001164508.2(NEB):c.5374A>G (p.Lys1792Glu)
|
rs541641039
|
0.00001
|
|
NM_001164508.2(NEB):c.5382A>G (p.Lys1794=)
|
rs2099187809
|
0.00001
|
|
NM_001164508.2(NEB):c.53T>C (p.Val18Ala)
|
rs781637539
|
0.00001
|
|
NM_001164508.2(NEB):c.5403T>C (p.Asp1801=)
|
rs1485835913
|
0.00001
|
|
NM_001164508.2(NEB):c.5434A>G (p.Arg1812Gly)
|
rs1466182533
|
0.00001
|
|
NM_001164508.2(NEB):c.5452-10C>T
|
rs755973658
|
0.00001
|
|
NM_001164508.2(NEB):c.5469C>T (p.Ala1823=)
|
rs1558984420
|
0.00001
|
|
NM_001164508.2(NEB):c.5566C>T (p.Arg1856Trp)
|
rs755791156
|
0.00001
|
|
NM_001164508.2(NEB):c.5571A>G (p.Glu1857=)
|
rs201539560
|
0.00001
|
|
NM_001164508.2(NEB):c.5574C>G (p.Tyr1858Ter)
|
rs781185019
|
0.00001
|
|
NM_001164508.2(NEB):c.5577G>A (p.Lys1859=)
|
rs751519609
|
0.00001
|
|
NM_001164508.2(NEB):c.5579A>G (p.Lys1860Arg)
|
rs766275101
|
0.00001
|
|
NM_001164508.2(NEB):c.5649G>A (p.Lys1883=)
|
rs371670376
|
0.00001
|
|
NM_001164508.2(NEB):c.5652T>C (p.Ser1884=)
|
rs1296464678
|
0.00001
|
|
NM_001164508.2(NEB):c.5688G>T (p.Val1896=)
|
rs766626019
|
0.00001
|
|
NM_001164508.2(NEB):c.5709T>C (p.Leu1903=)
|
rs1472831605
|
0.00001
|
|
NM_001164508.2(NEB):c.5761G>T (p.Asp1921Tyr)
|
rs763408172
|
0.00001
|
|
NM_001164508.2(NEB):c.5763+5G>A
|
rs776167256
|
0.00001
|
|
NM_001164508.2(NEB):c.5768A>G (p.Gln1923Arg)
|
rs755003638
|
0.00001
|
|
NM_001164508.2(NEB):c.576T>C (p.Leu192=)
|
rs755554259
|
0.00001
|
|
NM_001164508.2(NEB):c.5781C>T (p.Asp1927=)
|
rs369420467
|
0.00001
|
|
NM_001164508.2(NEB):c.5801G>A (p.Gly1934Asp)
|
rs763717355
|
0.00001
|
|
NM_001164508.2(NEB):c.580C>T (p.Gln194Ter)
|
rs1032240985
|
0.00001
|
|
NM_001164508.2(NEB):c.5827C>T (p.Leu1943=)
|
rs773023806
|
0.00001
|
|
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=)
|
rs757546480
|
0.00001
|
|
NM_001164508.2(NEB):c.5866A>C (p.Ser1956Arg)
|
rs1258945263
|
0.00001
|
|
NM_001164508.2(NEB):c.5912C>T (p.Thr1971Ile)
|
rs762592136
|
0.00001
|
|
NM_001164508.2(NEB):c.5916C>T (p.Leu1972=)
|
rs760841004
|
0.00001
|
|
NM_001164508.2(NEB):c.5972A>G (p.His1991Arg)
|
rs750070644
|
0.00001
|
|
NM_001164508.2(NEB):c.597C>T (p.Thr199=)
|
rs762852030
|
0.00001
|
|
NM_001164508.2(NEB):c.600C>T (p.Ala200=)
|
rs760791605
|
0.00001
|
|
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr)
|
rs199862790
|
0.00001
|
|
NM_001164508.2(NEB):c.6033C>T (p.Pro2011=)
|
rs773482640
|
0.00001
|
|
NM_001164508.2(NEB):c.6043T>C (p.Leu2015=)
|
rs748458556
|
0.00001
|
|
NM_001164508.2(NEB):c.6066T>C (p.Asn2022=)
|
rs1403762968
|
0.00001
|
|
NM_001164508.2(NEB):c.6076-1G>T
|
rs1553469502
|
0.00001
|
|
NM_001164508.2(NEB):c.6117C>A (p.Gly2039=)
|
rs1230322271
|
0.00001
|
|
NM_001164508.2(NEB):c.6219G>A (p.Gly2073=)
|
rs960591817
|
0.00001
|
|
NM_001164508.2(NEB):c.6235C>T (p.Arg2079Cys)
|
rs753064438
|
0.00001
|
|
NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile)
|
rs747729019
|
0.00001
|
|
NM_001164508.2(NEB):c.6298C>T (p.Arg2100Trp)
|
rs756398214
|
0.00001
|
|
NM_001164508.2(NEB):c.6318T>C (p.Tyr2106=)
|
rs766947078
|
0.00001
|
|
NM_001164508.2(NEB):c.6388G>A (p.Ala2130Thr)
|
rs756130763
|
0.00001
|
|
NM_001164508.2(NEB):c.6389C>A (p.Ala2130Asp)
|
rs185740450
|
0.00001
|
|
NM_001164508.2(NEB):c.6417C>T (p.His2139=)
|
rs750952879
|
0.00001
|
|
NM_001164508.2(NEB):c.6432C>T (p.Tyr2144=)
|
rs764868660
|
0.00001
|
|
NM_001164508.2(NEB):c.6447T>C (p.Asp2149=)
|
rs760492368
|
0.00001
|
|
NM_001164508.2(NEB):c.6468C>G (p.Thr2156=)
|
rs939177563
|
0.00001
|
|
NM_001164508.2(NEB):c.6479A>G (p.Asn2160Ser)
|
rs774148469
|
0.00001
|
|
NM_001164508.2(NEB):c.6489G>A (p.Gln2163=)
|
rs747215131
|
0.00001
|
|
NM_001164508.2(NEB):c.6496-7T>C
|
rs760365522
|
0.00001
|
|
NM_001164508.2(NEB):c.6505A>G (p.Lys2169Glu)
|
rs752328965
|
0.00001
|
|
NM_001164508.2(NEB):c.6523T>C (p.Trp2175Arg)
|
rs1003397118
|
0.00001
|
|
NM_001164508.2(NEB):c.6526T>G (p.Tyr2176Asp)
|
rs776624491
|
0.00001
|
|
NM_001164508.2(NEB):c.652T>G (p.Phe218Val)
|
rs1347757687
|
0.00001
|
|
NM_001164508.2(NEB):c.6530A>G (p.Lys2177Arg)
|
rs768844040
|
0.00001
|
|
NM_001164508.2(NEB):c.6559C>T (p.Leu2187=)
|
rs369413888
|
0.00001
|
|
NM_001164508.2(NEB):c.6622C>T (p.Pro2208Ser)
|
rs1369530664
|
0.00001
|
|
NM_001164508.2(NEB):c.6646C>T (p.Leu2216=)
|
rs779191300
|
0.00001
|
|
NM_001164508.2(NEB):c.6664A>G (p.Met2222Val)
|
rs201167928
|
0.00001
|
|
NM_001164508.2(NEB):c.66G>A (p.Glu22=)
|
rs779531608
|
0.00001
|
|
NM_001164508.2(NEB):c.6702+8G>A
|
rs780650914
|
0.00001
|
|
NM_001164508.2(NEB):c.6732T>G (p.Asp2244Glu)
|
rs765096308
|
0.00001
|
|
NM_001164508.2(NEB):c.6759T>C (p.Asp2253=)
|
rs1447374947
|
0.00001
|
|
NM_001164508.2(NEB):c.6795A>G (p.Thr2265=)
|
rs777055902
|
0.00001
|
|
NM_001164508.2(NEB):c.6806A>G (p.Gln2269Arg)
|
rs768068829
|
0.00001
|
|
NM_001164508.2(NEB):c.6808-5T>C
|
rs887525004
|
0.00001
|
|
NM_001164508.2(NEB):c.6815A>G (p.Tyr2272Cys)
|
rs762107662
|
0.00001
|
|
NM_001164508.2(NEB):c.6822T>G (p.Leu2274=)
|
rs1002275178
|
0.00001
|
|
NM_001164508.2(NEB):c.6840G>A (p.Leu2280=)
|
rs771466059
|
0.00001
|
|
NM_001164508.2(NEB):c.6851A>G (p.Tyr2284Cys)
|
rs778637750
|
0.00001
|
|
NM_001164508.2(NEB):c.6868G>A (p.Ala2290Thr)
|
rs777601721
|
0.00001
|
|
NM_001164508.2(NEB):c.6869C>T (p.Ala2290Val)
|
rs756114192
|
0.00001
|
|
NM_001164508.2(NEB):c.6876T>C (p.Ser2292=)
|
rs1307944333
|
0.00001
|
|
NM_001164508.2(NEB):c.6882G>A (p.Gln2294=)
|
rs780247638
|
0.00001
|
|
NM_001164508.2(NEB):c.6933C>T (p.Gly2311=)
|
rs1156601950
|
0.00001
|
|
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)
|
rs756363951
|
0.00001
|
|
NM_001164508.2(NEB):c.6968G>A (p.Arg2323Gln)
|
rs369456343
|
0.00001
|
|
NM_001164508.2(NEB):c.6986C>T (p.Pro2329Leu)
|
rs201154794
|
0.00001
|
|
NM_001164508.2(NEB):c.6987A>G (p.Pro2329=)
|
rs2099021147
|
0.00001
|
|
NM_001164508.2(NEB):c.6994G>C (p.Val2332Leu)
|
rs1281747723
|
0.00001
|
|
NM_001164508.2(NEB):c.6A>T (p.Ala2=)
|
rs778187569
|
0.00001
|
|
NM_001164508.2(NEB):c.7016A>G (p.Lys2339Arg)
|
rs1452924362
|
0.00001
|
|
NM_001164508.2(NEB):c.7025G>T (p.Ser2342Ile)
|
rs372132667
|
0.00001
|
|
NM_001164508.2(NEB):c.7041G>A (p.Lys2347=)
|
rs768624001
|
0.00001
|
|
NM_001164508.2(NEB):c.7090T>C (p.Leu2364=)
|
rs2099020733
|
0.00001
|
|
NM_001164508.2(NEB):c.7123T>C (p.Leu2375=)
|
rs373895191
|
0.00001
|
|
NM_001164508.2(NEB):c.718-6C>T
|
rs371791129
|
0.00001
|
|
NM_001164508.2(NEB):c.7209T>A (p.Val2403=)
|
rs778083630
|
0.00001
|
|
NM_001164508.2(NEB):c.7228-1G>A
|
rs1057516996
|
0.00001
|
|
NM_001164508.2(NEB):c.7228-5C>T
|
rs773213959
|
0.00001
|
|
NM_001164508.2(NEB):c.7245C>T (p.Asp2415=)
|
rs769167022
|
0.00001
|
|
NM_001164508.2(NEB):c.7248T>C (p.Leu2416=)
|
rs1313347497
|
0.00001
|
|
NM_001164508.2(NEB):c.7273A>T (p.Ser2425Cys)
|
rs758881101
|
0.00001
|
|
NM_001164508.2(NEB):c.7316C>T (p.Ser2439Leu)
|
rs774282909
|
0.00001
|
|
NM_001164508.2(NEB):c.7350T>C (p.Pro2450=)
|
rs2099016597
|
0.00001
|
|
NM_001164508.2(NEB):c.7353A>C (p.Pro2451=)
|
rs747213004
|
0.00001
|
|
NM_001164508.2(NEB):c.7374C>T (p.Ser2458=)
|
rs1318587515
|
0.00001
|
|
NM_001164508.2(NEB):c.739G>A (p.Ala247Thr)
|
rs571451076
|
0.00001
|
|
NM_001164508.2(NEB):c.7421A>G (p.Asn2474Ser)
|
rs776901478
|
0.00001
|
|
NM_001164508.2(NEB):c.7435C>T (p.Leu2479Phe)
|
rs1426898110
|
0.00001
|
|
NM_001164508.2(NEB):c.7437T>G (p.Leu2479=)
|
rs2098955228
|
0.00001
|
|
NM_001164508.2(NEB):c.7455C>T (p.Asp2485=)
|
rs1252087959
|
0.00001
|
|
NM_001164508.2(NEB):c.7465A>G (p.Thr2489Ala)
|
rs1321334284
|
0.00001
|
|
NM_001164508.2(NEB):c.7473C>A (p.Ile2491=)
|
rs760783298
|
0.00001
|
|
NM_001164508.2(NEB):c.7537-5A>T
|
rs1364472047
|
0.00001
|
|
NM_001164508.2(NEB):c.7547G>A (p.Arg2516Gln)
|
rs753647278
|
0.00001
|
|
NM_001164508.2(NEB):c.7610A>C (p.Lys2537Thr)
|
rs375216853
|
0.00001
|
|
NM_001164508.2(NEB):c.761C>T (p.Thr254Met)
|
rs376835458
|
0.00001
|
|
NM_001164508.2(NEB):c.7628G>A (p.Arg2543Gln)
|
rs758589097
|
0.00001
|
|
NM_001164508.2(NEB):c.7644+10T>C
|
rs765507331
|
0.00001
|
|
NM_001164508.2(NEB):c.7645-7T>C
|
rs2098922735
|
0.00001
|
|
NM_001164508.2(NEB):c.7661G>A (p.Gly2554Asp)
|
rs770338556
|
0.00001
|
|
NM_001164508.2(NEB):c.7691G>T (p.Gly2564Val)
|
rs1334008702
|
0.00001
|
|
NM_001164508.2(NEB):c.7704T>C (p.Ile2568=)
|
rs1441930348
|
0.00001
|
|
NM_001164508.2(NEB):c.7767C>T (p.Tyr2589=)
|
rs759056844
|
0.00001
|
|
NM_001164508.2(NEB):c.7788G>T (p.Trp2596Cys)
|
rs377602828
|
0.00001
|
|
NM_001164508.2(NEB):c.78+1G>A
|
rs778593702
|
0.00001
|
|
NM_001164508.2(NEB):c.7833G>A (p.Leu2611=)
|
rs745898708
|
0.00001
|
|
NM_001164508.2(NEB):c.7834G>A (p.Ala2612Thr)
|
rs779023599
|
0.00001
|
|
NM_001164508.2(NEB):c.7854A>G (p.Leu2618=)
|
rs370074798
|
0.00001
|
|
NM_001164508.2(NEB):c.7863C>T (p.Asp2621=)
|
rs1419803549
|
0.00001
|
|
NM_001164508.2(NEB):c.7881C>T (p.Tyr2627=)
|
rs761549144
|
0.00001
|
|
NM_001164508.2(NEB):c.7908C>T (p.Asp2636=)
|
rs774348830
|
0.00001
|
|
NM_001164508.2(NEB):c.7911G>C (p.Gln2637His)
|
rs771035225
|
0.00001
|
|
NM_001164508.2(NEB):c.7935G>A (p.Gln2645=)
|
rs1488960348
|
0.00001
|
|
NM_001164508.2(NEB):c.7956+18C>A
|
rs775427411
|
0.00001
|
|
NM_001164508.2(NEB):c.7971A>C (p.Ser2657=)
|
rs778368661
|
0.00001
|
|
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys)
|
rs369224273
|
0.00001
|
|
NM_001164508.2(NEB):c.8031A>G (p.Lys2677=)
|
rs1417094848
|
0.00001
|
|
NM_001164508.2(NEB):c.8066T>C (p.Val2689Ala)
|
rs1241788939
|
0.00001
|
|
NM_001164508.2(NEB):c.8122A>G (p.Met2708Val)
|
rs752579656
|
0.00001
|
|
NM_001164508.2(NEB):c.8152A>T (p.Met2718Leu)
|
rs767511888
|
0.00001
|
|
NM_001164508.2(NEB):c.8161-7C>T
|
rs113643881
|
0.00001
|
|
NM_001164508.2(NEB):c.8162G>A (p.Arg2721His)
|
rs753996512
|
0.00001
|
|
NM_001164508.2(NEB):c.823-6T>C
|
rs2099741813
|
0.00001
|
|
NM_001164508.2(NEB):c.8257T>C (p.Tyr2753His)
|
rs548343514
|
0.00001
|
|
NM_001164508.2(NEB):c.8266-20A>C
|
rs1241056840
|
0.00001
|
|
NM_001164508.2(NEB):c.8266-7A>G
|
rs767688886
|
0.00001
|
|
NM_001164508.2(NEB):c.8372A>C (p.Glu2791Ala)
|
rs1414164577
|
0.00001
|
|
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)
|
rs750548574
|
0.00001
|
|
NM_001164508.2(NEB):c.8406C>T (p.Leu2802=)
|
rs377170982
|
0.00001
|
|
NM_001164508.2(NEB):c.8467G>A (p.Val2823Met)
|
rs757497327
|
0.00001
|
|
NM_001164508.2(NEB):c.8487C>T (p.Asp2829=)
|
rs1243027424
|
0.00001
|
|
NM_001164508.2(NEB):c.8514G>A (p.Lys2838=)
|
rs762688885
|
0.00001
|
|
NM_001164508.2(NEB):c.8537C>T (p.Pro2846Leu)
|
rs765207403
|
0.00001
|
|
NM_001164508.2(NEB):c.8545A>T (p.Met2849Leu)
|
rs764499750
|
0.00001
|
|
NM_001164508.2(NEB):c.8562G>A (p.Leu2854=)
|
rs1432111491
|
0.00001
|
|
NM_001164508.2(NEB):c.8571G>A (p.Lys2857=)
|
rs774580339
|
0.00001
|
|
NM_001164508.2(NEB):c.8601C>T (p.Tyr2867=)
|
rs1286220682
|
0.00001
|
|
NM_001164508.2(NEB):c.8634C>T (p.Pro2878=)
|
rs776571715
|
0.00001
|
|
NM_001164508.2(NEB):c.8688T>C (p.Asn2896=)
|
rs1193832355
|
0.00001
|
|
NM_001164508.2(NEB):c.8769G>A (p.Arg2923=)
|
rs768835450
|
0.00001
|
|
NM_001164508.2(NEB):c.8775T>C (p.Thr2925=)
|
rs761257246
|
0.00001
|
|
NM_001164508.2(NEB):c.877C>T (p.Pro293Ser)
|
rs200672688
|
0.00001
|
|
NM_001164508.2(NEB):c.8850A>G (p.Glu2950=)
|
rs1358258182
|
0.00001
|
|
NM_001164508.2(NEB):c.8857T>C (p.Leu2953=)
|
rs1472426256
|
0.00001
|
|
NM_001164508.2(NEB):c.8859G>A (p.Leu2953=)
|
rs753947526
|
0.00001
|
|
NM_001164508.2(NEB):c.885T>C (p.Phe295=)
|
rs1286722317
|
0.00001
|
|
NM_001164508.2(NEB):c.8862C>T (p.Ala2954=)
|
rs1487319364
|
0.00001
|
|
NM_001164508.2(NEB):c.8880T>C (p.Thr2960=)
|
rs770284551
|
0.00001
|
|
NM_001164508.2(NEB):c.8886C>T (p.Asn2962=)
|
rs772691488
|
0.00001
|
|
NM_001164508.2(NEB):c.8890-5G>T
|
rs754118814
|
0.00001
|
|
NM_001164508.2(NEB):c.8893T>C (p.Leu2965=)
|
rs1430569195
|
0.00001
|
|
NM_001164508.2(NEB):c.8943A>G (p.Pro2981=)
|
rs1308710342
|
0.00001
|
|
NM_001164508.2(NEB):c.8949A>C (p.Thr2983=)
|
rs774786443
|
0.00001
|
|
NM_001164508.2(NEB):c.894A>G (p.Ala298=)
|
rs202159633
|
0.00001
|
|
NM_001164508.2(NEB):c.8A>G (p.Asp3Gly)
|
rs1245236784
|
0.00001
|
|
NM_001164508.2(NEB):c.9007C>G (p.Leu3003Val)
|
rs1415513452
|
0.00001
|
|
NM_001164508.2(NEB):c.901A>G (p.Arg301Gly)
|
rs756396449
|
0.00001
|
|
NM_001164508.2(NEB):c.9051C>T (p.Ser3017=)
|
rs777722290
|
0.00001
|
|
NM_001164508.2(NEB):c.9064A>G (p.Ile3022Val)
|
rs2098761523
|
0.00001
|
|
NM_001164508.2(NEB):c.9102+17A>G
|
rs775780099
|
0.00001
|
|
NM_001164508.2(NEB):c.9103-20T>C
|
rs747252722
|
0.00001
|
|
NM_001164508.2(NEB):c.9103-7A>G
|
rs776689414
|
0.00001
|
|
NM_001164508.2(NEB):c.9136G>T (p.Gly3046Cys)
|
rs1335899216
|
0.00001
|
|
NM_001164508.2(NEB):c.9196G>A (p.Val3066Ile)
|
rs755604172
|
0.00001
|
|
NM_001164508.2(NEB):c.9228A>G (p.Lys3076=)
|
rs766158874
|
0.00001
|
|
NM_001164508.2(NEB):c.9267A>G (p.Pro3089=)
|
rs1375156229
|
0.00001
|
|
NM_001164508.2(NEB):c.927+10G>A
|
rs1328277826
|
0.00001
|
|
NM_001164508.2(NEB):c.928-1G>A
|
rs1162553327
|
0.00001
|
|
NM_001164508.2(NEB):c.928-8T>C
|
rs1264161666
|
0.00001
|
|
NM_001164508.2(NEB):c.9289C>T (p.Leu3097=)
|
rs772392292
|
0.00001
|
|
NM_001164508.2(NEB):c.9309C>A (p.Thr3103=)
|
rs1042135615
|
0.00001
|
|
NM_001164508.2(NEB):c.9318T>C (p.Ser3106=)
|
rs1269187999
|
0.00001
|
|
NM_001164508.2(NEB):c.9321C>T (p.Asp3107=)
|
rs749837540
|
0.00001
|
|
NM_001164508.2(NEB):c.9329A>G (p.Tyr3110Cys)
|
rs778306283
|
0.00001
|
|
NM_001164508.2(NEB):c.9342G>A (p.Leu3114=)
|
rs1158802718
|
0.00001
|
|
NM_001164508.2(NEB):c.9372C>T (p.Ser3124=)
|
rs768098141
|
0.00001
|
|
NM_001164508.2(NEB):c.9375T>C (p.Asp3125=)
|
rs1006737950
|
0.00001
|
|
NM_001164508.2(NEB):c.9381C>A (p.Ile3127=)
|
rs2098709812
|
0.00001
|
|
NM_001164508.2(NEB):c.9414+10G>A
|
rs1175931667
|
0.00001
|
|
NM_001164508.2(NEB):c.9414+13T>C
|
rs1315167999
|
0.00001
|
|
NM_001164508.2(NEB):c.9414+1G>T
|
rs1255445731
|
0.00001
|
|
NM_001164508.2(NEB):c.9415-5C>T
|
rs776956299
|
0.00001
|
|
NM_001164508.2(NEB):c.9419T>C (p.Ile3140Thr)
|
rs774964206
|
0.00001
|
|
NM_001164508.2(NEB):c.9425A>G (p.Lys3142Arg)
|
rs771774138
|
0.00001
|
|
NM_001164508.2(NEB):c.9465C>G (p.Pro3155=)
|
rs1021985219
|
0.00001
|
|
NM_001164508.2(NEB):c.9483G>A (p.Val3161=)
|
rs1369814853
|
0.00001
|
|
NM_001164508.2(NEB):c.9504C>T (p.Thr3168=)
|
rs770587751
|
0.00001
|
|
NM_001164508.2(NEB):c.9517G>A (p.Asp3173Asn)
|
rs376224722
|
0.00001
|
|
NM_001164508.2(NEB):c.9540G>A (p.Pro3180=)
|
rs373833313
|
0.00001
|
|
NM_001164508.2(NEB):c.9568G>T (p.Asp3190Tyr)
|
rs781238222
|
0.00001
|
|
NM_001164508.2(NEB):c.9591C>T (p.Ala3197=)
|
rs1452295483
|
0.00001
|
|
NM_001164508.2(NEB):c.95A>G (p.Tyr32Cys)
|
rs193227711
|
0.00001
|
|
NM_001164508.2(NEB):c.9619-3T>C
|
rs756309002
|
0.00001
|
|
NM_001164508.2(NEB):c.9624A>G (p.Leu3208=)
|
rs1309537285
|
0.00001
|
|
NM_001164508.2(NEB):c.966G>T (p.Gln322His)
|
rs757803976
|
0.00001
|
|
NM_001164508.2(NEB):c.9689T>C (p.Met3230Thr)
|
rs760551196
|
0.00001
|
|
NM_001164508.2(NEB):c.9694G>T (p.Ala3232Ser)
|
rs1329330602
|
0.00001
|
|
NM_001164508.2(NEB):c.9723+7G>A
|
rs557480322
|
0.00001
|
|
NM_001164508.2(NEB):c.9744T>C (p.Asn3248=)
|
rs1386728979
|
0.00001
|
|
NM_001164508.2(NEB):c.9767A>G (p.Tyr3256Cys)
|
rs1365723573
|
0.00001
|
|
NM_001164508.2(NEB):c.9771C>T (p.Asp3257=)
|
rs772708316
|
0.00001
|
|
NM_001164508.2(NEB):c.9783C>T (p.Asp3261=)
|
rs756787775
|
0.00001
|
|
NM_001164508.2(NEB):c.9796G>A (p.Val3266Met)
|
rs564504601
|
0.00001
|
|
NM_001164508.2(NEB):c.9810C>T (p.Ala3270=)
|
rs1170138596
|
0.00001
|
|
NM_001164508.2(NEB):c.9819C>T (p.Asp3273=)
|
rs776553132
|
0.00001
|
|
NM_001164508.2(NEB):c.9831+7A>G
|
rs2098613210
|
0.00001
|
|
NM_001164508.2(NEB):c.9834C>T (p.Tyr3278=)
|
rs1230248586
|
0.00001
|
|
NM_001164508.2(NEB):c.9858G>A (p.Lys3286=)
|
rs1387341215
|
0.00001
|
|
NM_001164508.2(NEB):c.9873C>T (p.His3291=)
|
rs2098552699
|
0.00001
|
|
NM_001164508.2(NEB):c.9884G>A (p.Arg3295Gln)
|
rs201965465
|
0.00001
|
|
NM_001164508.2(NEB):c.9888C>T (p.Asn3296=)
|
rs1265139095
|
0.00001
|
|
NM_001164508.2(NEB):c.9890T>C (p.Ile3297Thr)
|
rs1323917769
|
0.00001
|
|
NM_001164508.2(NEB):c.9924T>C (p.His3308=)
|
rs752801727
|
0.00001
|
|
NM_001164508.2(NEB):c.9964T>A (p.Phe3322Ile)
|
rs369385033
|
0.00001
|
|
NM_001164508.2(NEB):c.9986T>A (p.Phe3329Tyr)
|
rs776107526
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1008C>T (p.Ser336=)
|
rs145815113
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1035T>A (p.Phe345Leu)
|
rs772920449
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1042G>A (p.Glu348Lys)
|
rs770250098
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1051G>A (p.Glu351Lys)
|
rs761988715
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1057C>T (p.Arg353Cys)
|
rs750674329
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1081G>A (p.Gly361Ser)
|
rs757939016
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1108T>C (p.Cys370Arg)
|
rs769248944
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1134T>C (p.Cys378=)
|
rs965118556
|
0.00001
|
|
NM_001256545.2(MEGF10):c.116+12G>C
|
rs775584154
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1215C>T (p.Tyr405=)
|
rs781762135
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1216G>A (p.Gly406Arg)
|
rs776828330
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1230G>A (p.Gln410=)
|
rs1245485061
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1278A>G (p.Gly426=)
|
rs139438683
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1322C>T (p.Thr441Ile)
|
rs1160030961
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1402G>T (p.Asp468Tyr)
|
rs745877628
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1404C>T (p.Asp468=)
|
rs756165435
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1465G>A (p.Gly489Ser)
|
rs1561635953
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1523A>G (p.Asn508Ser)
|
rs184606767
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1548T>C (p.Cys516=)
|
rs781192168
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1553C>G (p.Pro518Arg)
|
rs1196146646
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1561C>T (p.Arg521Cys)
|
rs1381176973
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1562G>A (p.Arg521His)
|
rs762636054
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1615G>A (p.Ala539Thr)
|
rs777005994
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1627G>A (p.Asp543Asn)
|
rs927000363
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1638C>T (p.His546=)
|
rs774408323
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1653C>T (p.His551=)
|
rs760467865
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1672C>T (p.Arg558Cys)
|
rs374111304
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1684G>A (p.Gly562Arg)
|
rs768600085
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1694-11C>T
|
rs1404053106
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1709G>A (p.Ser570Asn)
|
rs368340848
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1711G>A (p.Val571Met)
|
rs149021647
|
0.00001
|
|
NM_001256545.2(MEGF10):c.171C>T (p.Tyr57=)
|
rs199718339
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1750C>A (p.Pro584Thr)
|
rs148212621
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1791T>C (p.Asp597=)
|
rs755366479
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1801G>A (p.Glu601Lys)
|
rs778255998
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1812A>G (p.Pro604=)
|
rs375308597
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1814G>C (p.Gly605Ala)
|
rs138022464
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1820G>A (p.Arg607Gln)
|
rs759730720
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1831T>C (p.Cys611Arg)
|
rs1765456845
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1833T>G (p.Cys611Trp)
|
rs1765456920
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1893C>T (p.Cys631=)
|
rs777777875
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1905C>T (p.Ser635=)
|
rs755020554
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1921A>T (p.Ile641Phe)
|
rs745565012
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1927G>A (p.Gly643Ser)
|
rs767856393
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1960G>A (p.Ala654Thr)
|
rs754091432
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1975+20G>A
|
rs1319628900
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1982C>T (p.Pro661Leu)
|
rs1765519745
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1989C>A (p.Gly663=)
|
rs372838715
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2021C>T (p.Thr674Ile)
|
rs139700339
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2027C>T (p.Thr676Ile)
|
rs749879382
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2051T>C (p.Ile684Thr)
|
rs778154840
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2079T>C (p.Gly693=)
|
rs528749140
|
0.00001
|
|
NM_001256545.2(MEGF10):c.209C>T (p.Thr70Met)
|
rs766379097
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2104+1G>A
|
rs1298663120
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2110C>T (p.Pro704Ser)
|
rs1765635260
|
0.00001
|
|
NM_001256545.2(MEGF10):c.211C>T (p.Arg71Trp)
|
rs387907074
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2155C>T (p.His719Tyr)
|
rs1192439798
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2174G>A (p.Ser725Asn)
|
rs1457173499
|
0.00001
|
|
NM_001256545.2(MEGF10):c.219-11C>T
|
rs1428282010
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2221T>C (p.Tyr741His)
|
rs907242213
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2234-10C>T
|
rs748262501
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2265T>C (p.Cys755=)
|
rs202151825
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2290G>A (p.Gly764Arg)
|
rs769798459
|
0.00001
|
|
NM_001256545.2(MEGF10):c.229C>T (p.Arg77Trp)
|
rs752303954
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2301C>T (p.Cys767=)
|
rs387907071
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2362+2dup
|
rs762560221
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2391C>T (p.Gly797=)
|
rs753273246
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2430C>T (p.Cys810=)
|
rs745636972
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2478G>A (p.Ala826=)
|
rs773694859
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2492-16T>C
|
rs770598846
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2497G>A (p.Val833Ile)
|
rs1765908207
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2558C>T (p.Ser853Phe)
|
rs952649292
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2629A>G (p.Ile877Val)
|
rs762333863
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2686A>G (p.Thr896Ala)
|
rs1318829482
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2758G>A (p.Ala920Thr)
|
rs756451956
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2789A>G (p.Tyr930Cys)
|
rs1765997329
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2799C>T (p.Leu933=)
|
rs146038027
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2811C>T (p.Ala937=)
|
rs774153496
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2822A>G (p.His941Arg)
|
rs761698194
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2831A>G (p.Asn944Ser)
|
rs767447623
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2853G>A (p.Thr951=)
|
rs966689979
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2871A>G (p.Gln957=)
|
rs749389787
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2882A>G (p.Asn961Ser)
|
rs902313197
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2920G>A (p.Gly974Arg)
|
rs768701922
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2930C>A (p.Thr977Asn)
|
rs1209092369
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2972A>G (p.Asn991Ser)
|
rs756511139
|
0.00001
|
|
NM_001256545.2(MEGF10):c.2989G>A (p.Gly997Arg)
|
rs1766283187
|
0.00001
|
|
NM_001256545.2(MEGF10):c.3007A>G (p.Met1003Val)
|
rs746772649
|
0.00001
|
|
NM_001256545.2(MEGF10):c.3086C>T (p.Pro1029Leu)
|
rs139251235
|
0.00001
|
|
NM_001256545.2(MEGF10):c.3089A>G (p.Tyr1030Cys)
|
rs1433266858
|
0.00001
|
|
NM_001256545.2(MEGF10):c.3094A>G (p.Thr1032Ala)
|
rs747789433
|
0.00001
|
|
NM_001256545.2(MEGF10):c.3166C>T (p.Arg1056Ter)
|
rs989552169
|
0.00001
|
|
NM_001256545.2(MEGF10):c.320C>A (p.Pro107His)
|
rs745615372
|
0.00001
|
|
NM_001256545.2(MEGF10):c.322C>T (p.His108Tyr)
|
rs769476956
|
0.00001
|
|
NM_001256545.2(MEGF10):c.3278G>A (p.Arg1093His)
|
rs187800437
|
0.00001
|
|
NM_001256545.2(MEGF10):c.3353A>G (p.Asp1118Gly)
|
rs776755147
|
0.00001
|
|
NM_001256545.2(MEGF10):c.3396C>G (p.Ser1132Arg)
|
rs762840278
|
0.00001
|
|
NM_001256545.2(MEGF10):c.3409A>G (p.Ser1137Gly)
|
rs764044446
|
0.00001
|
|
NM_001256545.2(MEGF10):c.3411C>T (p.Ser1137=)
|
rs751048515
|
0.00001
|
|
NM_001256545.2(MEGF10):c.3421T>A (p.Ter1141Arg)
|
rs61738064
|
0.00001
|
|
NM_001256545.2(MEGF10):c.369C>T (p.Thr123=)
|
rs1464840934
|
0.00001
|
|
NM_001256545.2(MEGF10):c.407C>T (p.Ser136Phe)
|
rs1476265236
|
0.00001
|
|
NM_001256545.2(MEGF10):c.413-4T>C
|
rs761922404
|
0.00001
|
|
NM_001256545.2(MEGF10):c.422G>A (p.Gly141Asp)
|
rs756329251
|
0.00001
|
|
NM_001256545.2(MEGF10):c.42A>G (p.Leu14=)
|
rs918917288
|
0.00001
|
|
NM_001256545.2(MEGF10):c.446C>T (p.Thr149Ile)
|
rs763157072
|
0.00001
|
|
NM_001256545.2(MEGF10):c.449G>A (p.Ser150Asn)
|
rs762474220
|
0.00001
|
|
NM_001256545.2(MEGF10):c.480C>T (p.Cys160=)
|
rs1215256187
|
0.00001
|
|
NM_001256545.2(MEGF10):c.511G>A (p.Ala171Thr)
|
rs752601027
|
0.00001
|
|
NM_001256545.2(MEGF10):c.520C>T (p.Arg174Trp)
|
rs756799749
|
0.00001
|
|
NM_001256545.2(MEGF10):c.529C>T (p.Arg177Cys)
|
rs748641801
|
0.00001
|
|
NM_001256545.2(MEGF10):c.541C>T (p.Arg181Cys)
|
rs764996899
|
0.00001
|
|
NM_001256545.2(MEGF10):c.553G>A (p.Gly185Ser)
|
rs1479724522
|
0.00001
|
|
NM_001256545.2(MEGF10):c.59T>C (p.Ile20Thr)
|
rs748919606
|
0.00001
|
|
NM_001256545.2(MEGF10):c.659+10A>T
|
rs532194218
|
0.00001
|
|
NM_001256545.2(MEGF10):c.66A>G (p.Thr22=)
|
rs1315751467
|
0.00001
|
|
NM_001256545.2(MEGF10):c.682G>C (p.Gly228Arg)
|
rs1005573486
|
0.00001
|
|
NM_001256545.2(MEGF10):c.726T>G (p.Asn242Lys)
|
rs752309579
|
0.00001
|
|
NM_001256545.2(MEGF10):c.781-12C>T
|
rs1277628300
|
0.00001
|
|
NM_001256545.2(MEGF10):c.789G>A (p.Val263=)
|
rs1188804374
|
0.00001
|
|
NM_001256545.2(MEGF10):c.808G>A (p.Glu270Lys)
|
rs201393832
|
0.00001
|
|
NM_001256545.2(MEGF10):c.833C>T (p.Ser278Phe)
|
rs1301558900
|
0.00001
|
|
NM_001256545.2(MEGF10):c.899C>G (p.Pro300Arg)
|
rs760972764
|
0.00001
|
|
NM_001256545.2(MEGF10):c.914A>T (p.Glu305Val)
|
rs902150958
|
0.00001
|
|
NM_001256545.2(MEGF10):c.918-11T>C
|
rs771296610
|
0.00001
|
|
NM_001256545.2(MEGF10):c.918G>A (p.Arg306=)
|
rs200870082
|
0.00001
|
|
NM_001256545.2(MEGF10):c.930G>A (p.Glu310=)
|
rs1264341592
|
0.00001
|
|
NM_001256545.2(MEGF10):c.935C>T (p.Pro312Leu)
|
rs199702225
|
0.00001
|
|
NM_001256545.2(MEGF10):c.951C>T (p.Gly317=)
|
rs145870973
|
0.00001
|
|
NM_001256545.2(MEGF10):c.985G>A (p.Gly329Arg)
|
rs148583278
|
0.00001
|
|
NM_001256545.2(MEGF10):c.99G>A (p.Val33=)
|
rs1204696743
|
0.00001
|
|
NM_001256850.1(TTN):c.18197-4A>G
|
rs1025136671
|
0.00001
|
|
NM_001256850.1(TTN):c.51809dup (p.Asp17270fs)
|
rs397517626
|
0.00001
|
|
NM_001267550.2(TTN):c.100020A>G (p.Gln33340=)
|
rs375614764
|
0.00001
|
|
NM_001267550.2(TTN):c.100167A>G (p.Pro33389=)
|
rs778478048
|
0.00001
|
|
NM_001267550.2(TTN):c.100197A>G (p.Pro33399=)
|
rs1434554684
|
0.00001
|
|
NM_001267550.2(TTN):c.100204A>G (p.Thr33402Ala)
|
rs777018654
|
0.00001
|
|
NM_001267550.2(TTN):c.100359A>C (p.Ser33453=)
|
rs1483003625
|
0.00001
|
|
NM_001267550.2(TTN):c.10041C>T (p.Ile3347=)
|
rs143307305
|
0.00001
|
|
NM_001267550.2(TTN):c.100467T>C (p.Ser33489=)
|
rs794727540
|
0.00001
|
|
NM_001267550.2(TTN):c.100500G>A (p.Glu33500=)
|
rs1377937205
|
0.00001
|
|
NM_001267550.2(TTN):c.100578C>T (p.Ile33526=)
|
rs764709619
|
0.00001
|
|
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)
|
rs1064793560
|
0.00001
|
|
NM_001267550.2(TTN):c.100599C>A (p.Gly33533=)
|
rs373667354
|
0.00001
|
|
NM_001267550.2(TTN):c.100629T>C (p.Tyr33543=)
|
rs772935423
|
0.00001
|
|
NM_001267550.2(TTN):c.100632G>A (p.Arg33544=)
|
rs764687906
|
0.00001
|
|
NM_001267550.2(TTN):c.100649G>A (p.Gly33550Asp)
|
rs370253076
|
0.00001
|
|
NM_001267550.2(TTN):c.100653C>A (p.Gly33551=)
|
rs727505326
|
0.00001
|
|
NM_001267550.2(TTN):c.100662G>A (p.Gln33554=)
|
rs1036339690
|
0.00001
|
|
NM_001267550.2(TTN):c.100745C>G (p.Thr33582Ser)
|
rs1289282264
|
0.00001
|
|
NM_001267550.2(TTN):c.100759G>A (p.Val33587Met)
|
rs1401200720
|
0.00001
|
|
NM_001267550.2(TTN):c.100773T>C (p.Ala33591=)
|
rs760622914
|
0.00001
|
|
NM_001267550.2(TTN):c.100818T>C (p.His33606=)
|
rs1402147578
|
0.00001
|
|
NM_001267550.2(TTN):c.100841G>A (p.Ser33614Asn)
|
rs879230745
|
0.00001
|
|
NM_001267550.2(TTN):c.100875T>C (p.Pro33625=)
|
rs780265134
|
0.00001
|
|
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)
|
rs1260821931
|
0.00001
|
|
NM_001267550.2(TTN):c.100903C>T (p.Leu33635Phe)
|
rs879048474
|
0.00001
|
|
NM_001267550.2(TTN):c.100935T>C (p.Ile33645=)
|
rs763249842
|
0.00001
|
|
NM_001267550.2(TTN):c.100966C>T (p.Pro33656Ser)
|
rs559295181
|
0.00001
|
|
NM_001267550.2(TTN):c.100992T>C (p.Ala33664=)
|
rs755742637
|
0.00001
|
|
NM_001267550.2(TTN):c.10099C>T (p.Arg3367Trp)
|
rs762791706
|
0.00001
|
|
NM_001267550.2(TTN):c.101012C>A (p.Ala33671Asp)
|
rs1575296563
|
0.00001
|
|
NM_001267550.2(TTN):c.101050C>T (p.Leu33684=)
|
rs775824162
|
0.00001
|
|
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)
|
rs766265889
|
0.00001
|
|
NM_001267550.2(TTN):c.101121C>T (p.Asn33707=)
|
rs931200740
|
0.00001
|
|
NM_001267550.2(TTN):c.101136G>A (p.Glu33712=)
|
rs1060503937
|
0.00001
|
|
NM_001267550.2(TTN):c.101144C>T (p.Ser33715Phe)
|
rs755892166
|
0.00001
|
|
NM_001267550.2(TTN):c.101165C>T (p.Thr33722Ile)
|
rs1372744849
|
0.00001
|
|
NM_001267550.2(TTN):c.101172C>T (p.Tyr33724=)
|
rs1441942873
|
0.00001
|
|
NM_001267550.2(TTN):c.101178T>C (p.Val33726=)
|
rs750286559
|
0.00001
|
|
NM_001267550.2(TTN):c.1011A>G (p.Thr337=)
|
rs758427242
|
0.00001
|
|
NM_001267550.2(TTN):c.101214T>G (p.Arg33738=)
|
rs876657617
|
0.00001
|
|
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)
|
rs794729305
|
0.00001
|
|
NM_001267550.2(TTN):c.101244C>T (p.Thr33748=)
|
rs765149703
|
0.00001
|
|
NM_001267550.2(TTN):c.101284G>A (p.Val33762Ile)
|
rs1385559568
|
0.00001
|
|
NM_001267550.2(TTN):c.101326C>G (p.Pro33776Ala)
|
rs746665837
|
0.00001
|
|
NM_001267550.2(TTN):c.101380G>A (p.Glu33794Lys)
|
rs1484936368
|
0.00001
|
|
NM_001267550.2(TTN):c.101382A>G (p.Glu33794=)
|
rs375153601
|
0.00001
|
|
NM_001267550.2(TTN):c.101386G>A (p.Val33796Ile)
|
rs1160027812
|
0.00001
|
|
NM_001267550.2(TTN):c.101387T>C (p.Val33796Ala)
|
rs1454018253
|
0.00001
|
|
NM_001267550.2(TTN):c.101391T>C (p.Asp33797=)
|
rs374228740
|
0.00001
|
|
NM_001267550.2(TTN):c.101429C>G (p.Ser33810Cys)
|
rs1467149853
|
0.00001
|
|
NM_001267550.2(TTN):c.101495T>C (p.Ile33832Thr)
|
rs1476820246
|
0.00001
|
|
NM_001267550.2(TTN):c.101503C>T (p.Arg33835Cys)
|
rs781516399
|
0.00001
|
|
NM_001267550.2(TTN):c.101508T>C (p.Cys33836=)
|
rs758908171
|
0.00001
|
|
NM_001267550.2(TTN):c.101519C>T (p.Ser33840Phe)
|
rs1202069310
|
0.00001
|
|
NM_001267550.2(TTN):c.101529G>C (p.Lys33843Asn)
|
rs377406091
|
0.00001
|
|
NM_001267550.2(TTN):c.101551A>C (p.Lys33851Gln)
|
rs1394900631
|
0.00001
|
|
NM_001267550.2(TTN):c.101557A>G (p.Lys33853Glu)
|
rs727505163
|
0.00001
|
|
NM_001267550.2(TTN):c.101572G>C (p.Val33858Leu)
|
rs1060500584
|
0.00001
|
|
NM_001267550.2(TTN):c.101573T>A (p.Val33858Asp)
|
rs1172459056
|
0.00001
|
|
NM_001267550.2(TTN):c.101606T>C (p.Ile33869Thr)
|
rs1253957228
|
0.00001
|
|
NM_001267550.2(TTN):c.10164G>A (p.Arg3388=)
|
rs542799064
|
0.00001
|
|
NM_001267550.2(TTN):c.101655G>T (p.Met33885Ile)
|
rs777177959
|
0.00001
|
|
NM_001267550.2(TTN):c.101679G>C (p.Glu33893Asp)
|
rs764487443
|
0.00001
|
|
NM_001267550.2(TTN):c.101805T>G (p.Ile33935Met)
|
rs76106451
|
0.00001
|
|
NM_001267550.2(TTN):c.10182A>G (p.Gln3394=)
|
rs797046059
|
0.00001
|
|
NM_001267550.2(TTN):c.101846C>T (p.Thr33949Ile)
|
rs1559040993
|
0.00001
|
|
NM_001267550.2(TTN):c.101866A>C (p.Lys33956Gln)
|
rs1690684721
|
0.00001
|
|
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys)
|
rs886055224
|
0.00001
|
|
NM_001267550.2(TTN):c.101908G>A (p.Asp33970Asn)
|
rs749832500
|
0.00001
|
|
NM_001267550.2(TTN):c.101916C>T (p.Phe33972=)
|
rs1417727276
|
0.00001
|
|
NM_001267550.2(TTN):c.101970T>C (p.Asp33990=)
|
rs375585777
|
0.00001
|
|
NM_001267550.2(TTN):c.101979C>T (p.Ser33993=)
|
rs1429749651
|
0.00001
|
|
NM_001267550.2(TTN):c.102011T>A (p.Leu34004Gln)
|
rs727504897
|
0.00001
|
|
NM_001267550.2(TTN):c.102025T>C (p.Leu34009=)
|
rs794727543
|
0.00001
|
|
NM_001267550.2(TTN):c.102027G>T (p.Leu34009Phe)
|
rs760604476
|
0.00001
|
|
NM_001267550.2(TTN):c.102040C>A (p.Pro34014Thr)
|
rs775271604
|
0.00001
|
|
NM_001267550.2(TTN):c.102060C>T (p.Asn34020=)
|
rs771707205
|
0.00001
|
|
NM_001267550.2(TTN):c.102078T>C (p.Asn34026=)
|
rs774398198
|
0.00001
|
|
NM_001267550.2(TTN):c.102095A>G (p.Tyr34032Cys)
|
rs1160872040
|
0.00001
|
|
NM_001267550.2(TTN):c.102096T>C (p.Tyr34032=)
|
rs771155641
|
0.00001
|
|
NM_001267550.2(TTN):c.102099T>C (p.Thr34033=)
|
rs896791206
|
0.00001
|
|
NM_001267550.2(TTN):c.102116T>C (p.Phe34039Ser)
|
rs1553496582
|
0.00001
|
|
NM_001267550.2(TTN):c.102139A>G (p.Met34047Val)
|
rs755244797
|
0.00001
|
|
NM_001267550.2(TTN):c.102182G>A (p.Arg34061His)
|
rs774174825
|
0.00001
|
|
NM_001267550.2(TTN):c.102195G>A (p.Ser34065=)
|
rs757037792
|
0.00001
|
|
NM_001267550.2(TTN):c.102213A>G (p.Pro34071=)
|
rs879066988
|
0.00001
|
|
NM_001267550.2(TTN):c.102217T>C (p.Leu34073=)
|
rs1006736251
|
0.00001
|
|
NM_001267550.2(TTN):c.102232G>C (p.Glu34078Gln)
|
rs1454101167
|
0.00001
|
|
NM_001267550.2(TTN):c.102274C>T (p.Arg34092Cys)
|
rs765435004
|
0.00001
|
|
NM_001267550.2(TTN):c.102325G>A (p.Ala34109Thr)
|
rs786205293
|
0.00001
|
|
NM_001267550.2(TTN):c.102329G>A (p.Arg34110Gln)
|
rs565347600
|
0.00001
|
|
NM_001267550.2(TTN):c.102368T>G (p.Val34123Gly)
|
rs1060500587
|
0.00001
|
|
NM_001267550.2(TTN):c.102377C>T (p.Ala34126Val)
|
rs1280930563
|
0.00001
|
|
NM_001267550.2(TTN):c.102397A>C (p.Ile34133Leu)
|
rs1328046092
|
0.00001
|
|
NM_001267550.2(TTN):c.102399T>C (p.Ile34133=)
|
rs1271132251
|
0.00001
|
|
NM_001267550.2(TTN):c.102432T>C (p.His34144=)
|
rs769502434
|
0.00001
|
|
NM_001267550.2(TTN):c.102445G>A (p.Glu34149Lys)
|
rs780580255
|
0.00001
|
|
NM_001267550.2(TTN):c.102446A>G (p.Glu34149Gly)
|
rs1165341799
|
0.00001
|
|
NM_001267550.2(TTN):c.102518G>A (p.Gly34173Asp)
|
rs752184554
|
0.00001
|
|
NM_001267550.2(TTN):c.102558C>T (p.Thr34186=)
|
rs1457807365
|
0.00001
|
|
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys)
|
rs577667352
|
0.00001
|
|
NM_001267550.2(TTN):c.102586G>A (p.Val34196Ile)
|
rs1185169765
|
0.00001
|
|
NM_001267550.2(TTN):c.102638A>G (p.Asn34213Ser)
|
rs375332499
|
0.00001
|
|
NM_001267550.2(TTN):c.102688A>C (p.Arg34230=)
|
rs745836095
|
0.00001
|
|
NM_001267550.2(TTN):c.102697T>C (p.Tyr34233His)
|
rs1460715226
|
0.00001
|
|
NM_001267550.2(TTN):c.102698A>G (p.Tyr34233Cys)
|
rs1461306828
|
0.00001
|
|
NM_001267550.2(TTN):c.102713G>A (p.Arg34238His)
|
rs767961553
|
0.00001
|
|
NM_001267550.2(TTN):c.102782C>A (p.Thr34261Asn)
|
rs985229219
|
0.00001
|
|
NM_001267550.2(TTN):c.102795T>C (p.Tyr34265=)
|
rs770969582
|
0.00001
|
|
NM_001267550.2(TTN):c.102814G>C (p.Gly34272Arg)
|
rs794729562
|
0.00001
|
|
NM_001267550.2(TTN):c.102842T>C (p.Ile34281Thr)
|
rs779369864
|
0.00001
|
|
NM_001267550.2(TTN):c.102882A>G (p.Ser34294=)
|
rs373384005
|
0.00001
|
|
NM_001267550.2(TTN):c.10288A>C (p.Asn3430His)
|
rs376029089
|
0.00001
|
|
NM_001267550.2(TTN):c.102928G>A (p.Glu34310Lys)
|
rs768930172
|
0.00001
|
|
NM_001267550.2(TTN):c.102940G>C (p.Gly34314Arg)
|
rs772007737
|
0.00001
|
|
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=)
|
rs528502993
|
0.00001
|
|
NM_001267550.2(TTN):c.102976G>A (p.Asp34326Asn)
|
rs1227502652
|
0.00001
|
|
NM_001267550.2(TTN):c.102985G>A (p.Ala34329Thr)
|
rs749925915
|
0.00001
|
|
NM_001267550.2(TTN):c.102992A>G (p.Tyr34331Cys)
|
rs765213170
|
0.00001
|
|
NM_001267550.2(TTN):c.10303+2T>C
|
rs371596417
|
0.00001
|
|
NM_001267550.2(TTN):c.103087C>T (p.Pro34363Ser)
|
rs771573240
|
0.00001
|
|
NM_001267550.2(TTN):c.103088C>T (p.Pro34363Leu)
|
rs1457631231
|
0.00001
|
|
NM_001267550.2(TTN):c.103089C>T (p.Pro34363=)
|
rs1393600349
|
0.00001
|
|
NM_001267550.2(TTN):c.103121G>T (p.Cys34374Phe)
|
rs368493317
|
0.00001
|
|
NM_001267550.2(TTN):c.103163G>A (p.Gly34388Asp)
|
rs760436734
|
0.00001
|
|
NM_001267550.2(TTN):c.103177A>C (p.Thr34393Pro)
|
rs947426325
|
0.00001
|
|
NM_001267550.2(TTN):c.103182A>G (p.Leu34394=)
|
rs1434132972
|
0.00001
|
|
NM_001267550.2(TTN):c.103207C>T (p.Leu34403=)
|
rs773892755
|
0.00001
|
|
NM_001267550.2(TTN):c.103209G>A (p.Leu34403=)
|
rs1430082978
|
0.00001
|
|
NM_001267550.2(TTN):c.103216G>A (p.Gly34406Arg)
|
rs371753532
|
0.00001
|
|
NM_001267550.2(TTN):c.103236C>T (p.Ile34412=)
|
rs745465328
|
0.00001
|
|
NM_001267550.2(TTN):c.103244G>A (p.Gly34415Asp)
|
rs919270464
|
0.00001
|
|
NM_001267550.2(TTN):c.103267A>G (p.Ile34423Val)
|
rs777746298
|
0.00001
|
|
NM_001267550.2(TTN):c.103288G>T (p.Asp34430Tyr)
|
rs751794473
|
0.00001
|
|
NM_001267550.2(TTN):c.10328C>T (p.Thr3443Ile)
|
rs746052197
|
0.00001
|
|
NM_001267550.2(TTN):c.103334C>T (p.Thr34445Ile)
|
rs778587344
|
0.00001
|
|
NM_001267550.2(TTN):c.103408G>T (p.Glu34470Ter)
|
rs769023413
|
0.00001
|
|
NM_001267550.2(TTN):c.103432G>A (p.Asp34478Asn)
|
rs878913368
|
0.00001
|
|
NM_001267550.2(TTN):c.103444A>C (p.Arg34482=)
|
rs1380119708
|
0.00001
|
|
NM_001267550.2(TTN):c.103459C>A (p.Leu34487Ile)
|
rs779924820
|
0.00001
|
|
NM_001267550.2(TTN):c.103540G>A (p.Val34514Ile)
|
rs769311670
|
0.00001
|
|
NM_001267550.2(TTN):c.103578G>A (p.Glu34526=)
|
rs1478505603
|
0.00001
|
|
NM_001267550.2(TTN):c.103583A>G (p.Glu34528Gly)
|
rs745616639
|
0.00001
|
|
NM_001267550.2(TTN):c.103586A>G (p.Glu34529Gly)
|
rs1184132617
|
0.00001
|
|
NM_001267550.2(TTN):c.103632G>A (p.Glu34544=)
|
rs1285886003
|
0.00001
|
|
NM_001267550.2(TTN):c.103633C>A (p.Pro34545Thr)
|
rs533640993
|
0.00001
|
|
NM_001267550.2(TTN):c.103637G>A (p.Arg34546His)
|
rs973169397
|
0.00001
|
|
NM_001267550.2(TTN):c.103661A>G (p.Glu34554Gly)
|
rs1202031815
|
0.00001
|
|
NM_001267550.2(TTN):c.103672C>T (p.Arg34558Cys)
|
rs745743825
|
0.00001
|
|
NM_001267550.2(TTN):c.103680G>C (p.Lys34560Asn)
|
rs778525620
|
0.00001
|
|
NM_001267550.2(TTN):c.103687G>A (p.Val34563Met)
|
rs369429739
|
0.00001
|
|
NM_001267550.2(TTN):c.103693A>G (p.Met34565Val)
|
rs1575256217
|
0.00001
|
|
NM_001267550.2(TTN):c.103713T>C (p.Tyr34571=)
|
rs1057523313
|
0.00001
|
|
NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg)
|
rs727505009
|
0.00001
|
|
NM_001267550.2(TTN):c.103744G>C (p.Gly34582Arg)
|
rs1458830929
|
0.00001
|
|
NM_001267550.2(TTN):c.103762G>T (p.Val34588Leu)
|
rs368889232
|
0.00001
|
|
NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter)
|
rs967542291
|
0.00001
|
|
NM_001267550.2(TTN):c.103780C>T (p.Arg34594Cys)
|
rs879240376
|
0.00001
|
|
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His)
|
rs762235688
|
0.00001
|
|
NM_001267550.2(TTN):c.103830C>T (p.Arg34610=)
|
rs1321633640
|
0.00001
|
|
NM_001267550.2(TTN):c.103835C>G (p.Thr34612Arg)
|
rs1433454372
|
0.00001
|
|
NM_001267550.2(TTN):c.103836A>G (p.Thr34612=)
|
rs533393186
|
0.00001
|
|
NM_001267550.2(TTN):c.103881T>C (p.Asp34627=)
|
rs770005413
|
0.00001
|
|
NM_001267550.2(TTN):c.103945C>T (p.Arg34649Ter)
|
rs995029896
|
0.00001
|
|
NM_001267550.2(TTN):c.104005G>A (p.Asp34669Asn)
|
rs1430662349
|
0.00001
|
|
NM_001267550.2(TTN):c.104010C>T (p.Tyr34670=)
|
rs751039219
|
0.00001
|
|
NM_001267550.2(TTN):c.104015C>T (p.Ala34672Val)
|
rs79666048
|
0.00001
|
|
NM_001267550.2(TTN):c.104018T>C (p.Met34673Thr)
|
rs886042330
|
0.00001
|
|
NM_001267550.2(TTN):c.104044C>T (p.Arg34682Cys)
|
rs1290406597
|
0.00001
|
|
NM_001267550.2(TTN):c.104045G>A (p.Arg34682His)
|
rs190398670
|
0.00001
|
|
NM_001267550.2(TTN):c.104062G>C (p.Glu34688Gln)
|
rs775049806
|
0.00001
|
|
NM_001267550.2(TTN):c.104064G>C (p.Glu34688Asp)
|
rs1407460166
|
0.00001
|
|
NM_001267550.2(TTN):c.104082A>G (p.Ser34694=)
|
rs1413571023
|
0.00001
|
|
NM_001267550.2(TTN):c.104089A>G (p.Ser34697Gly)
|
rs1177374613
|
0.00001
|
|
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter)
|
rs727504184
|
0.00001
|
|
NM_001267550.2(TTN):c.104093G>A (p.Arg34698Gln)
|
rs757940030
|
0.00001
|
|
NM_001267550.2(TTN):c.104099C>T (p.Pro34700Leu)
|
rs757181586
|
0.00001
|
|
NM_001267550.2(TTN):c.104105A>G (p.His34702Arg)
|
rs1190780620
|
0.00001
|
|
NM_001267550.2(TTN):c.104126G>A (p.Arg34709His)
|
rs574420969
|
0.00001
|
|
NM_001267550.2(TTN):c.104132C>G (p.Ser34711Cys)
|
rs767826322
|
0.00001
|
|
NM_001267550.2(TTN):c.104158G>A (p.Glu34720Lys)
|
rs773467994
|
0.00001
|
|
NM_001267550.2(TTN):c.104165C>T (p.Thr34722Ile)
|
rs770151999
|
0.00001
|
|
NM_001267550.2(TTN):c.104166A>C (p.Thr34722=)
|
rs1404311137
|
0.00001
|
|
NM_001267550.2(TTN):c.104192A>G (p.Tyr34731Cys)
|
rs397517789
|
0.00001
|
|
NM_001267550.2(TTN):c.104194C>G (p.His34732Asp)
|
rs753769495
|
0.00001
|
|
NM_001267550.2(TTN):c.104195A>G (p.His34732Arg)
|
rs1250361204
|
0.00001
|
|
NM_001267550.2(TTN):c.104229T>C (p.Tyr34743=)
|
rs762295035
|
0.00001
|
|
NM_001267550.2(TTN):c.104241G>A (p.Arg34747=)
|
rs1451163518
|
0.00001
|
|
NM_001267550.2(TTN):c.104250T>C (p.His34750=)
|
rs745463889
|
0.00001
|
|
NM_001267550.2(TTN):c.104267G>C (p.Arg34756Thr)
|
rs1344770836
|
0.00001
|
|
NM_001267550.2(TTN):c.104272C>T (p.Pro34758Ser)
|
rs1296833957
|
0.00001
|
|
NM_001267550.2(TTN):c.104282G>A (p.Arg34761Gln)
|
rs200773170
|
0.00001
|
|
NM_001267550.2(TTN):c.104283G>T (p.Arg34761=)
|
rs1689489588
|
0.00001
|
|
NM_001267550.2(TTN):c.104308G>A (p.Asp34770Asn)
|
rs1689483910
|
0.00001
|
|
NM_001267550.2(TTN):c.104328A>C (p.Pro34776=)
|
rs1575245592
|
0.00001
|
|
NM_001267550.2(TTN):c.104334G>A (p.Thr34778=)
|
rs550108694
|
0.00001
|
|
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe)
|
rs539735520
|
0.00001
|
|
NM_001267550.2(TTN):c.104349C>T (p.Leu34783=)
|
rs748899419
|
0.00001
|
|
NM_001267550.2(TTN):c.10434C>T (p.Asn3478=)
|
rs749590376
|
0.00001
|
|
NM_001267550.2(TTN):c.104368C>T (p.Leu34790Phe)
|
rs551824963
|
0.00001
|
|
NM_001267550.2(TTN):c.104399del (p.Arg34800fs)
|
rs747662439
|
0.00001
|
|
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter)
|
rs750519430
|
0.00001
|
|
NM_001267550.2(TTN):c.104435T>C (p.Ile34812Thr)
|
rs1427010837
|
0.00001
|
|
NM_001267550.2(TTN):c.104444T>C (p.Ile34815Thr)
|
rs908034780
|
0.00001
|
|
NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=)
|
rs548677252
|
0.00001
|
|
NM_001267550.2(TTN):c.104458G>A (p.Glu34820Lys)
|
rs766062367
|
0.00001
|
|
NM_001267550.2(TTN):c.104470C>T (p.His34824Tyr)
|
rs1689413849
|
0.00001
|
|
NM_001267550.2(TTN):c.104472T>C (p.His34824=)
|
rs761372671
|
0.00001
|
|
NM_001267550.2(TTN):c.104474C>A (p.Ala34825Asp)
|
rs766157074
|
0.00001
|
|
NM_001267550.2(TTN):c.104505A>T (p.Arg34835Ser)
|
rs1464816261
|
0.00001
|
|
NM_001267550.2(TTN):c.104541T>C (p.Tyr34847=)
|
rs750079478
|
0.00001
|
|
NM_001267550.2(TTN):c.104564C>A (p.Ser34855Tyr)
|
rs886055222
|
0.00001
|
|
NM_001267550.2(TTN):c.104573T>A (p.Ile34858Asn)
|
rs374668326
|
0.00001
|
|
NM_001267550.2(TTN):c.10457C>T (p.Ala3486Val)
|
rs374093805
|
0.00001
|
|
NM_001267550.2(TTN):c.104582G>A (p.Arg34861His)
|
rs777774818
|
0.00001
|
|
NM_001267550.2(TTN):c.104604C>T (p.Tyr34868=)
|
rs765047045
|
0.00001
|
|
NM_001267550.2(TTN):c.104627C>T (p.Ser34876Leu)
|
rs1170097065
|
0.00001
|
|
NM_001267550.2(TTN):c.104631T>C (p.Pro34877=)
|
rs763646831
|
0.00001
|
|
NM_001267550.2(TTN):c.104721C>A (p.Ile34907=)
|
rs763807626
|
0.00001
|
|
NM_001267550.2(TTN):c.104741T>A (p.Met34914Lys)
|
rs373257372
|
0.00001
|
|
NM_001267550.2(TTN):c.104745A>C (p.Lys34915Asn)
|
rs1390713685
|
0.00001
|
|
NM_001267550.2(TTN):c.104761C>G (p.Gln34921Glu)
|
rs369190893
|
0.00001
|
|
NM_001267550.2(TTN):c.104821G>A (p.Ala34941Thr)
|
rs1484852266
|
0.00001
|
|
NM_001267550.2(TTN):c.104827C>T (p.Arg34943Ter)
|
rs1202115268
|
0.00001
|
|
NM_001267550.2(TTN):c.10482A>G (p.Pro3494=)
|
rs756011775
|
0.00001
|
|
NM_001267550.2(TTN):c.104849C>T (p.Ser34950Leu)
|
rs762789368
|
0.00001
|
|
NM_001267550.2(TTN):c.104850G>A (p.Ser34950=)
|
rs556443213
|
0.00001
|
|
NM_001267550.2(TTN):c.104867G>A (p.Gly34956Asp)
|
rs145748940
|
0.00001
|
|
NM_001267550.2(TTN):c.104878C>T (p.Arg34960Cys)
|
rs772702110
|
0.00001
|
|
NM_001267550.2(TTN):c.104905C>A (p.Pro34969Thr)
|
rs1256480602
|
0.00001
|
|
NM_001267550.2(TTN):c.104913C>T (p.Ala34971=)
|
rs780680405
|
0.00001
|
|
NM_001267550.2(TTN):c.10491A>G (p.Gln3497=)
|
rs550083531
|
0.00001
|
|
NM_001267550.2(TTN):c.104933A>G (p.Asn34978Ser)
|
rs780028847
|
0.00001
|
|
NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter)
|
rs991187915
|
0.00001
|
|
NM_001267550.2(TTN):c.104952A>C (p.Glu34984Asp)
|
rs1434654451
|
0.00001
|
|
NM_001267550.2(TTN):c.104961G>A (p.Lys34987=)
|
rs761971017
|
0.00001
|
|
NM_001267550.2(TTN):c.104967T>C (p.His34989=)
|
rs754129150
|
0.00001
|
|
NM_001267550.2(TTN):c.104979G>A (p.Thr34993=)
|
rs775644738
|
0.00001
|
|
NM_001267550.2(TTN):c.104981G>A (p.Ser34994Asn)
|
rs774081159
|
0.00001
|
|
NM_001267550.2(TTN):c.104989C>G (p.Leu34997Val)
|
rs771364302
|
0.00001
|
|
NM_001267550.2(TTN):c.105038G>A (p.Arg35013His)
|
rs779484675
|
0.00001
|
|
NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala)
|
rs368779151
|
0.00001
|
|
NM_001267550.2(TTN):c.105064G>A (p.Glu35022Lys)
|
rs727504977
|
0.00001
|
|
NM_001267550.2(TTN):c.105072T>C (p.Ser35024=)
|
rs1450125971
|
0.00001
|
|
NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met)
|
rs56001826
|
0.00001
|
|
NM_001267550.2(TTN):c.105086T>G (p.Leu35029Trp)
|
rs763437247
|
0.00001
|
|
NM_001267550.2(TTN):c.105134A>T (p.Asp35045Val)
|
rs1001393566
|
0.00001
|
|
NM_001267550.2(TTN):c.105149G>C (p.Arg35050Thr)
|
rs376175862
|
0.00001
|
|
NM_001267550.2(TTN):c.105156T>C (p.Val35052=)
|
rs766918865
|
0.00001
|
|
NM_001267550.2(TTN):c.105186T>C (p.Tyr35062=)
|
rs759152072
|
0.00001
|
|
NM_001267550.2(TTN):c.1051G>A (p.Val351Met)
|
rs772889673
|
0.00001
|
|
NM_001267550.2(TTN):c.105219G>A (p.Met35073Ile)
|
rs1689052563
|
0.00001
|
|
NM_001267550.2(TTN):c.105311T>C (p.Met35104Thr)
|
rs373073929
|
0.00001
|
|
NM_001267550.2(TTN):c.105339A>G (p.Ser35113=)
|
rs886038721
|
0.00001
|
|
NM_001267550.2(TTN):c.105360C>T (p.Thr35120=)
|
rs904049980
|
0.00001
|
|
NM_001267550.2(TTN):c.105370A>C (p.Lys35124Gln)
|
rs760487831
|
0.00001
|
|
NM_001267550.2(TTN):c.105375G>A (p.Thr35125=)
|
rs780294413
|
0.00001
|
|
NM_001267550.2(TTN):c.105391A>G (p.Ile35131Val)
|
rs779464128
|
0.00001
|
|
NM_001267550.2(TTN):c.105407G>A (p.Arg35136Gln)
|
rs554213990
|
0.00001
|
|
NM_001267550.2(TTN):c.105429C>T (p.Gly35143=)
|
rs368591364
|
0.00001
|
|
NM_001267550.2(TTN):c.105430G>A (p.Glu35144Lys)
|
rs568472002
|
0.00001
|
|
NM_001267550.2(TTN):c.105449G>A (p.Cys35150Tyr)
|
rs554953169
|
0.00001
|
|
NM_001267550.2(TTN):c.105457G>A (p.Asp35153Asn)
|
rs778907927
|
0.00001
|
|
NM_001267550.2(TTN):c.105465G>A (p.Glu35155=)
|
rs1235753439
|
0.00001
|
|
NM_001267550.2(TTN):c.105485G>C (p.Trp35162Ser)
|
rs886042795
|
0.00001
|
|
NM_001267550.2(TTN):c.105491G>A (p.Arg35164His)
|
rs768358201
|
0.00001
|
|
NM_001267550.2(TTN):c.105492T>C (p.Arg35164=)
|
rs775290030
|
0.00001
|
|
NM_001267550.2(TTN):c.105493A>G (p.Lys35165Glu)
|
rs879156291
|
0.00001
|
|
NM_001267550.2(TTN):c.105570A>G (p.Ser35190=)
|
rs377340289
|
0.00001
|
|
NM_001267550.2(TTN):c.105571G>A (p.Val35191Ile)
|
rs1290162863
|
0.00001
|
|
NM_001267550.2(TTN):c.105578C>A (p.Ala35193Asp)
|
rs1380574216
|
0.00001
|
|
NM_001267550.2(TTN):c.105601G>A (p.Val35201Met)
|
rs397517797
|
0.00001
|
|
NM_001267550.2(TTN):c.105643A>C (p.Thr35215Pro)
|
rs769195414
|
0.00001
|
|
NM_001267550.2(TTN):c.105667G>A (p.Val35223Ile)
|
rs1688851195
|
0.00001
|
|
NM_001267550.2(TTN):c.105673G>A (p.Glu35225Lys)
|
rs1688847847
|
0.00001
|
|
NM_001267550.2(TTN):c.105718C>T (p.Arg35240Trp)
|
rs752729073
|
0.00001
|
|
NM_001267550.2(TTN):c.105732A>G (p.Pro35244=)
|
rs1203061089
|
0.00001
|
|
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)
|
rs886043924
|
0.00001
|
|
NM_001267550.2(TTN):c.105802G>A (p.Glu35268Lys)
|
rs1010179080
|
0.00001
|
|
NM_001267550.2(TTN):c.105805del (p.Thr35269fs)
|
rs752787097
|
0.00001
|
|
NM_001267550.2(TTN):c.105825G>C (p.Glu35275Asp)
|
rs377219772
|
0.00001
|
|
NM_001267550.2(TTN):c.105831T>G (p.Val35277=)
|
rs751375570
|
0.00001
|
|
NM_001267550.2(TTN):c.105834G>C (p.Gln35278His)
|
rs758094020
|
0.00001
|
|
NM_001267550.2(TTN):c.105839T>A (p.Leu35280His)
|
rs1451951231
|
0.00001
|
|
NM_001267550.2(TTN):c.105849T>C (p.Ser35283=)
|
rs1344897936
|
0.00001
|
|
NM_001267550.2(TTN):c.105852C>G (p.Ala35284=)
|
rs776786546
|
0.00001
|
|
NM_001267550.2(TTN):c.105863T>C (p.Ile35288Thr)
|
rs764713884
|
0.00001
|
|
NM_001267550.2(TTN):c.105873C>A (p.Phe35291Leu)
|
rs1183014419
|
0.00001
|
|
NM_001267550.2(TTN):c.105880G>A (p.Ala35294Thr)
|
rs879080442
|
0.00001
|
|
NM_001267550.2(TTN):c.10589A>T (p.Tyr3530Phe)
|
rs755931621
|
0.00001
|
|
NM_001267550.2(TTN):c.10592C>G (p.Ser3531Ter)
|
rs767420661
|
0.00001
|
|
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter)
|
rs779948923
|
0.00001
|
|
NM_001267550.2(TTN):c.105945A>G (p.Lys35315=)
|
rs750183638
|
0.00001
|
|
NM_001267550.2(TTN):c.105999G>A (p.Gln35333=)
|
rs764231632
|
0.00001
|
|
NM_001267550.2(TTN):c.106029G>A (p.Glu35343=)
|
rs985272969
|
0.00001
|
|
NM_001267550.2(TTN):c.106047C>A (p.Leu35349=)
|
rs768200270
|
0.00001
|
|
NM_001267550.2(TTN):c.106055C>G (p.Ser35352Cys)
|
rs746512551
|
0.00001
|
|
NM_001267550.2(TTN):c.106101G>A (p.Thr35367=)
|
rs754154871
|
0.00001
|
|
NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs)
|
rs1394131775
|
0.00001
|
|
NM_001267550.2(TTN):c.106117C>A (p.Gln35373Lys)
|
rs778126842
|
0.00001
|
|
NM_001267550.2(TTN):c.106143T>C (p.Ser35381=)
|
rs961119478
|
0.00001
|
|
NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr)
|
rs768296130
|
0.00001
|
|
NM_001267550.2(TTN):c.106180A>G (p.Lys35394Glu)
|
rs745753316
|
0.00001
|
|
NM_001267550.2(TTN):c.106200T>C (p.Thr35400=)
|
rs778143338
|
0.00001
|
|
NM_001267550.2(TTN):c.106210G>A (p.Val35404Ile)
|
rs752846394
|
0.00001
|
|
NM_001267550.2(TTN):c.106212A>G (p.Val35404=)
|
rs1312103333
|
0.00001
|
|
NM_001267550.2(TTN):c.106239T>C (p.Pro35413=)
|
rs1688566947
|
0.00001
|
|
NM_001267550.2(TTN):c.106258C>T (p.Pro35420Ser)
|
rs567191587
|
0.00001
|
|
NM_001267550.2(TTN):c.106279C>T (p.Gln35427Ter)
|
rs1285334952
|
0.00001
|
|
NM_001267550.2(TTN):c.106286C>T (p.Thr35429Ile)
|
rs1241466221
|
0.00001
|
|
NM_001267550.2(TTN):c.106312A>G (p.Lys35438Glu)
|
rs755067124
|
0.00001
|
|
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln)
|
rs369703073
|
0.00001
|
|
NM_001267550.2(TTN):c.106374+3A>G
|
rs976515961
|
0.00001
|
|
NM_001267550.2(TTN):c.106376C>T (p.Ala35459Val)
|
rs879170800
|
0.00001
|
|
NM_001267550.2(TTN):c.106379T>C (p.Ile35460Thr)
|
rs1398739704
|
0.00001
|
|
NM_001267550.2(TTN):c.106387G>A (p.Gly35463Arg)
|
rs1474079403
|
0.00001
|
|
NM_001267550.2(TTN):c.106403T>A (p.Leu35468His)
|
rs952475900
|
0.00001
|
|
NM_001267550.2(TTN):c.106482A>G (p.Val35494=)
|
rs766024055
|
0.00001
|
|
NM_001267550.2(TTN):c.106532-2A>C
|
rs753610150
|
0.00001
|
|
NM_001267550.2(TTN):c.106532-4T>C
|
rs761764101
|
0.00001
|
|
NM_001267550.2(TTN):c.106549G>A (p.Ala35517Thr)
|
rs772279090
|
0.00001
|
|
NM_001267550.2(TTN):c.106556A>G (p.Lys35519Arg)
|
rs1422047351
|
0.00001
|
|
NM_001267550.2(TTN):c.106680G>C (p.Lys35560Asn)
|
rs779206858
|
0.00001
|
|
NM_001267550.2(TTN):c.106769A>G (p.His35590Arg)
|
rs375572802
|
0.00001
|
|
NM_001267550.2(TTN):c.106771G>A (p.Glu35591Lys)
|
rs935554305
|
0.00001
|
|
NM_001267550.2(TTN):c.106831G>C (p.Ala35611Pro)
|
rs1304855425
|
0.00001
|
|
NM_001267550.2(TTN):c.106853T>C (p.Ile35618Thr)
|
rs1575194805
|
0.00001
|
|
NM_001267550.2(TTN):c.106902T>G (p.Thr35634=)
|
rs1236739074
|
0.00001
|
|
NM_001267550.2(TTN):c.106906G>A (p.Val35636Met)
|
rs751243461
|
0.00001
|
|
NM_001267550.2(TTN):c.106914G>C (p.Trp35638Cys)
|
rs758497512
|
0.00001
|
|
NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter)
|
rs565675340
|
0.00001
|
|
NM_001267550.2(TTN):c.10698A>G (p.Gln3566=)
|
rs1199564481
|
0.00001
|
|
NM_001267550.2(TTN):c.106994A>G (p.Lys35665Arg)
|
rs746841189
|
0.00001
|
|
NM_001267550.2(TTN):c.107058C>T (p.Val35686=)
|
rs767818722
|
0.00001
|
|
NM_001267550.2(TTN):c.107081T>C (p.Leu35694Pro)
|
rs761325938
|
0.00001
|
|
NM_001267550.2(TTN):c.107097A>C (p.Ser35699=)
|
rs771821464
|
0.00001
|
|
NM_001267550.2(TTN):c.107118A>G (p.Ser35706=)
|
rs1477953539
|
0.00001
|
|
NM_001267550.2(TTN):c.107167T>G (p.Cys35723Gly)
|
rs1687597849
|
0.00001
|
|
NM_001267550.2(TTN):c.107200G>A (p.Glu35734Lys)
|
rs374992991
|
0.00001
|
|
NM_001267550.2(TTN):c.107218C>G (p.Leu35740Val)
|
rs1176056991
|
0.00001
|
|
NM_001267550.2(TTN):c.107219dup (p.Pro35741fs)
|
rs1427595954
|
0.00001
|
|
NM_001267550.2(TTN):c.107268A>G (p.Val35756=)
|
rs1687465738
|
0.00001
|
|
NM_001267550.2(TTN):c.107270A>G (p.Tyr35757Cys)
|
rs932225386
|
0.00001
|
|
NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)
|
rs1477669354
|
0.00001
|
|
NM_001267550.2(TTN):c.107302G>A (p.Asp35768Asn)
|
rs794729571
|
0.00001
|
|
NM_001267550.2(TTN):c.107320A>G (p.Ile35774Val)
|
rs774401824
|
0.00001
|
|
NM_001267550.2(TTN):c.107377+16C>T
|
rs777307827
|
0.00001
|
|
NM_001267550.2(TTN):c.107410T>C (p.Leu35804=)
|
rs1445566495
|
0.00001
|
|
NM_001267550.2(TTN):c.107446T>C (p.Phe35816Leu)
|
rs1687028450
|
0.00001
|
|
NM_001267550.2(TTN):c.107451G>A (p.Ser35817=)
|
rs762942579
|
0.00001
|
|
NM_001267550.2(TTN):c.1074G>A (p.Glu358=)
|
rs747118838
|
0.00001
|
|
NM_001267550.2(TTN):c.107528T>C (p.Met35843Thr)
|
rs760758096
|
0.00001
|
|
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)
|
rs1009131948
|
0.00001
|
|
NM_001267550.2(TTN):c.107593G>A (p.Glu35865Lys)
|
rs372841288
|
0.00001
|
|
NM_001267550.2(TTN):c.107620A>C (p.Ile35874Leu)
|
rs1210579565
|
0.00001
|
|
NM_001267550.2(TTN):c.107627A>G (p.Asn35876Ser)
|
rs750430860
|
0.00001
|
|
NM_001267550.2(TTN):c.107630T>C (p.Met35877Thr)
|
rs375824821
|
0.00001
|
|
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)
|
rs757082154
|
0.00001
|
|
NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg)
|
rs727504465
|
0.00001
|
|
NM_001267550.2(TTN):c.107661G>A (p.Met35887Ile)
|
rs764323200
|
0.00001
|
|
NM_001267550.2(TTN):c.107665A>C (p.Lys35889Gln)
|
rs760849988
|
0.00001
|
|
NM_001267550.2(TTN):c.107681-12T>C
|
rs1448556655
|
0.00001
|
|
NM_001267550.2(TTN):c.107692A>G (p.Lys35898Glu)
|
rs1028436080
|
0.00001
|
|
NM_001267550.2(TTN):c.107721C>A (p.Ser35907Arg)
|
rs977991321
|
0.00001
|
|
NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr)
|
rs769141222
|
0.00001
|
|
NM_001267550.2(TTN):c.107724T>C (p.Ile35908=)
|
rs748517132
|
0.00001
|
|
NM_001267550.2(TTN):c.107774C>T (p.Thr35925Ile)
|
rs755111765
|
0.00001
|
|
NM_001267550.2(TTN):c.107798G>A (p.Gly35933Asp)
|
rs1686762598
|
0.00001
|
|
NM_001267550.2(TTN):c.10782T>C (p.Ser3594=)
|
rs768090794
|
0.00001
|
|
NM_001267550.2(TTN):c.107832G>A (p.Arg35944=)
|
rs759154562
|
0.00001
|
|
NM_001267550.2(TTN):c.107858T>G (p.Leu35953Arg)
|
rs794729572
|
0.00001
|
|
NM_001267550.2(TTN):c.107864C>A (p.Thr35955Asn)
|
rs370267738
|
0.00001
|
|
NM_001267550.2(TTN):c.107871C>T (p.Ile35957=)
|
rs777697301
|
0.00001
|
|
NM_001267550.2(TTN):c.107880C>T (p.Asp35960=)
|
rs747964050
|
0.00001
|
|
NM_001267550.2(TTN):c.107900G>A (p.Gly35967Glu)
|
rs780316966
|
0.00001
|
|
NM_001267550.2(TTN):c.107952G>A (p.Val35984=)
|
rs1485536370
|
0.00001
|
|
NM_001267550.2(TTN):c.10827A>G (p.Glu3609=)
|
rs776259519
|
0.00001
|
|
NM_001267550.2(TTN):c.10869A>G (p.Thr3623=)
|
rs778116553
|
0.00001
|
|
NM_001267550.2(TTN):c.1089G>A (p.Thr363=)
|
rs528675109
|
0.00001
|
|
NM_001267550.2(TTN):c.10911C>A (p.Ser3637=)
|
rs751994960
|
0.00001
|
|
NM_001267550.2(TTN):c.10959A>G (p.Lys3653=)
|
rs1029197818
|
0.00001
|
|
NM_001267550.2(TTN):c.10968G>A (p.Thr3656=)
|
rs771709418
|
0.00001
|
|
NM_001267550.2(TTN):c.10989C>T (p.Phe3663=)
|
rs1254851346
|
0.00001
|
|
NM_001267550.2(TTN):c.11085C>T (p.His3695=)
|
rs774236128
|
0.00001
|
|
NM_001267550.2(TTN):c.11103G>A (p.Glu3701=)
|
rs762913656
|
0.00001
|
|
NM_001267550.2(TTN):c.1111A>C (p.Arg371=)
|
rs765810853
|
0.00001
|
|
NM_001267550.2(TTN):c.11229G>A (p.Thr3743=)
|
rs374617032
|
0.00001
|
|
NM_001267550.2(TTN):c.11254+14T>C
|
rs754595864
|
0.00001
|
|
NM_001267550.2(TTN):c.11311+7T>C
|
rs2086016384
|
0.00001
|
|
NM_001267550.2(TTN):c.11337C>T (p.Ala3779=)
|
rs375603989
|
0.00001
|
|
NM_001267550.2(TTN):c.11461A>G (p.Ile3821Val)
|
rs867402675
|
0.00001
|
|
NM_001267550.2(TTN):c.11502G>A (p.Gly3834=)
|
rs777420658
|
0.00001
|
|
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met)
|
rs397517825
|
0.00001
|
|
NM_001267550.2(TTN):c.11520T>C (p.Ser3840=)
|
rs781238390
|
0.00001
|
|
NM_001267550.2(TTN):c.11556G>A (p.Gln3852=)
|
rs750599414
|
0.00001
|
|
NM_001267550.2(TTN):c.11650T>C (p.Leu3884=)
|
rs933410465
|
0.00001
|
|
NM_001267550.2(TTN):c.1165A>G (p.Ser389Gly)
|
rs1255499093
|
0.00001
|
|
NM_001267550.2(TTN):c.11678T>C (p.Met3893Thr)
|
rs1553941782
|
0.00001
|
|
NM_001267550.2(TTN):c.11684G>A (p.Ser3895Asn)
|
rs769466475
|
0.00001
|
|
NM_001267550.2(TTN):c.11687A>G (p.Asn3896Ser)
|
rs1207560844
|
0.00001
|
|
NM_001267550.2(TTN):c.11706A>G (p.Ile3902Met)
|
rs368845723
|
0.00001
|
|
NM_001267550.2(TTN):c.1173T>C (p.Ala391=)
|
rs1277275682
|
0.00001
|
|
NM_001267550.2(TTN):c.11775G>A (p.Val3925=)
|
rs931107392
|
0.00001
|
|
NM_001267550.2(TTN):c.11799A>C (p.Gly3933=)
|
rs375518434
|
0.00001
|
|
NM_001267550.2(TTN):c.1185C>T (p.Ala395=)
|
rs372346898
|
0.00001
|
|
NM_001267550.2(TTN):c.11991T>C (p.Ile3997=)
|
rs565546452
|
0.00001
|
|
NM_001267550.2(TTN):c.12016_12019dup (p.Gly4007fs)
|
rs1553940935
|
0.00001
|
|
NM_001267550.2(TTN):c.12052G>A (p.Gly4018Ser)
|
rs759214389
|
0.00001
|
|
NM_001267550.2(TTN):c.12057G>A (p.Glu4019=)
|
rs774370502
|
0.00001
|
|
NM_001267550.2(TTN):c.12078G>A (p.Leu4026=)
|
rs926556907
|
0.00001
|
|
NM_001267550.2(TTN):c.12099A>T (p.Thr4033=)
|
rs781206140
|
0.00001
|
|
NM_001267550.2(TTN):c.12113C>A (p.Thr4038Asn)
|
rs758968807
|
0.00001
|
|
NM_001267550.2(TTN):c.12175G>T (p.Gly4059Cys)
|
rs377114166
|
0.00001
|
|
NM_001267550.2(TTN):c.12177T>A (p.Gly4059=)
|
rs761760491
|
0.00001
|
|
NM_001267550.2(TTN):c.1221G>A (p.Glu407=)
|
rs56349212
|
0.00001
|
|
NM_001267550.2(TTN):c.12294T>C (p.Ala4098=)
|
rs1386491689
|
0.00001
|
|
NM_001267550.2(TTN):c.12387G>A (p.Arg4129=)
|
rs199546417
|
0.00001
|
|
NM_001267550.2(TTN):c.12399C>T (p.Cys4133=)
|
rs753751110
|
0.00001
|
|
NM_001267550.2(TTN):c.12402C>T (p.Ile4134=)
|
rs1375938618
|
0.00001
|
|
NM_001267550.2(TTN):c.12416A>G (p.His4139Arg)
|
rs72648920
|
0.00001
|
|
NM_001267550.2(TTN):c.1246-14C>T
|
rs753427490
|
0.00001
|
|
NM_001267550.2(TTN):c.12470C>T (p.Ser4157Phe)
|
rs771706692
|
0.00001
|
|
NM_001267550.2(TTN):c.12484T>C (p.Ser4162Pro)
|
rs548726318
|
0.00001
|
|
NM_001267550.2(TTN):c.12525G>A (p.Gln4175=)
|
rs2082339506
|
0.00001
|
|
NM_001267550.2(TTN):c.12572T>C (p.Ile4191Thr)
|
rs371669309
|
0.00001
|
|
NM_001267550.2(TTN):c.12600G>A (p.Glu4200=)
|
rs1028167182
|
0.00001
|
|
NM_001267550.2(TTN):c.12681C>T (p.Thr4227=)
|
rs2082312081
|
0.00001
|
|
NM_001267550.2(TTN):c.12708A>G (p.Pro4236=)
|
rs2082307443
|
0.00001
|
|
NM_001267550.2(TTN):c.12714A>G (p.Glu4238=)
|
rs2082306677
|
0.00001
|
|
NM_001267550.2(TTN):c.12723A>G (p.Val4241=)
|
rs2082304621
|
0.00001
|
|
NM_001267550.2(TTN):c.12726T>C (p.Ser4242=)
|
rs1191147375
|
0.00001
|
|
NM_001267550.2(TTN):c.12744A>G (p.Gln4248=)
|
rs879224470
|
0.00001
|
|
NM_001267550.2(TTN):c.12762G>A (p.Lys4254=)
|
rs372524612
|
0.00001
|
|
NM_001267550.2(TTN):c.12804T>G (p.Ala4268=)
|
rs796413220
|
0.00001
|
|
NM_001267550.2(TTN):c.12830G>A (p.Ser4277Asn)
|
rs878854286
|
0.00001
|
|
NM_001267550.2(TTN):c.12994C>T (p.Leu4332=)
|
rs780049225
|
0.00001
|
|
NM_001267550.2(TTN):c.12999A>G (p.Ala4333=)
|
rs998243378
|
0.00001
|
|
NM_001267550.2(TTN):c.13044C>T (p.Asn4348=)
|
rs879161892
|
0.00001
|
|
NM_001267550.2(TTN):c.1304T>C (p.Met435Thr)
|
rs770187975
|
0.00001
|
|
NM_001267550.2(TTN):c.13068C>A (p.Ile4356=)
|
rs1553938065
|
0.00001
|
|
NM_001267550.2(TTN):c.13086G>A (p.Glu4362=)
|
rs753471578
|
0.00001
|
|
NM_001267550.2(TTN):c.13122A>C (p.Gly4374=)
|
rs775547592
|
0.00001
|
|
NM_001267550.2(TTN):c.13219G>A (p.Val4407Met)
|
rs539154603
|
0.00001
|
|
NM_001267550.2(TTN):c.13275G>A (p.Val4425=)
|
rs1370815489
|
0.00001
|
|
NM_001267550.2(TTN):c.13281C>T (p.Val4427=)
|
rs551703401
|
0.00001
|
|
NM_001267550.2(TTN):c.13296C>T (p.Ile4432=)
|
rs1195699934
|
0.00001
|
|
NM_001267550.2(TTN):c.13335T>A (p.Val4445=)
|
rs1397254383
|
0.00001
|
|
NM_001267550.2(TTN):c.13365A>G (p.Val4455=)
|
rs956041710
|
0.00001
|
|
NM_001267550.2(TTN):c.1341G>A (p.Glu447=)
|
rs1181216377
|
0.00001
|
|
NM_001267550.2(TTN):c.13488G>T (p.Gln4496His)
|
rs1383626434
|
0.00001
|
|
NM_001267550.2(TTN):c.13510C>A (p.Gln4504Lys)
|
rs761901186
|
0.00001
|
|
NM_001267550.2(TTN):c.13518A>G (p.Glu4506=)
|
rs764376907
|
0.00001
|
|
NM_001267550.2(TTN):c.13555A>G (p.Ile4519Val)
|
rs759140842
|
0.00001
|
|
NM_001267550.2(TTN):c.13572T>C (p.Val4524=)
|
rs930888410
|
0.00001
|
|
NM_001267550.2(TTN):c.13584T>C (p.Tyr4528=)
|
rs780863409
|
0.00001
|
|
NM_001267550.2(TTN):c.13617C>T (p.Asn4539=)
|
rs764466989
|
0.00001
|
|
NM_001267550.2(TTN):c.1377C>T (p.His459=)
|
rs770514023
|
0.00001
|
|
NM_001267550.2(TTN):c.13809G>A (p.Glu4603=)
|
rs770564701
|
0.00001
|
|
NM_001267550.2(TTN):c.13817C>G (p.Pro4606Arg)
|
rs762079270
|
0.00001
|
|
NM_001267550.2(TTN):c.13839G>A (p.Val4613=)
|
rs1307850717
|
0.00001
|
|
NM_001267550.2(TTN):c.13872C>T (p.His4624=)
|
rs765700138
|
0.00001
|
|
NM_001267550.2(TTN):c.13883C>T (p.Ser4628Phe)
|
rs794729602
|
0.00001
|
|
NM_001267550.2(TTN):c.13908T>C (p.Asn4636=)
|
rs1553936091
|
0.00001
|
|
NM_001267550.2(TTN):c.13940A>G (p.Asp4647Gly)
|
rs781348816
|
0.00001
|
|
NM_001267550.2(TTN):c.14022G>A (p.Glu4674=)
|
rs761849101
|
0.00001
|
|
NM_001267550.2(TTN):c.14092+5G>A
|
rs757575983
|
0.00001
|
|
NM_001267550.2(TTN):c.14093-16C>T
|
rs1057523430
|
0.00001
|
|
NM_001267550.2(TTN):c.14093-1G>A
|
rs869312099
|
0.00001
|
|
NM_001267550.2(TTN):c.14095G>T (p.Ala4699Ser)
|
rs1172448062
|
0.00001
|
|
NM_001267550.2(TTN):c.14109G>A (p.Lys4703=)
|
rs1378752176
|
0.00001
|
|
NM_001267550.2(TTN):c.14175T>C (p.Ser4725=)
|
rs774594532
|
0.00001
|
|
NM_001267550.2(TTN):c.14181C>T (p.Pro4727=)
|
rs771138425
|
0.00001
|
|
NM_001267550.2(TTN):c.14223T>C (p.Tyr4741=)
|
rs368835028
|
0.00001
|
|
NM_001267550.2(TTN):c.14286C>T (p.Thr4762=)
|
rs759678711
|
0.00001
|
|
NM_001267550.2(TTN):c.1429A>T (p.Thr477Ser)
|
rs727503705
|
0.00001
|
|
NM_001267550.2(TTN):c.14313A>G (p.Thr4771=)
|
rs556020515
|
0.00001
|
|
NM_001267550.2(TTN):c.14394C>G (p.Leu4798=)
|
rs754729983
|
0.00001
|
|
NM_001267550.2(TTN):c.14464C>T (p.Pro4822Ser)
|
rs762428750
|
0.00001
|
|
NM_001267550.2(TTN):c.1446C>T (p.Ala482=)
|
rs183258737
|
0.00001
|
|
NM_001267550.2(TTN):c.14496T>C (p.Gly4832=)
|
rs1261358878
|
0.00001
|
|
NM_001267550.2(TTN):c.14526G>A (p.Arg4842=)
|
rs754160697
|
0.00001
|
|
NM_001267550.2(TTN):c.1452T>C (p.Asp484=)
|
rs746610206
|
0.00001
|
|
NM_001267550.2(TTN):c.1464A>G (p.Glu488=)
|
rs779783043
|
0.00001
|
|
NM_001267550.2(TTN):c.14655T>C (p.Ile4885=)
|
rs1560853931
|
0.00001
|
|
NM_001267550.2(TTN):c.14670C>T (p.Phe4890=)
|
rs1260191732
|
0.00001
|
|
NM_001267550.2(TTN):c.14721T>C (p.Leu4907=)
|
rs1470683370
|
0.00001
|
|
NM_001267550.2(TTN):c.14790A>G (p.Pro4930=)
|
rs200745103
|
0.00001
|
|
NM_001267550.2(TTN):c.14835T>C (p.Leu4945=)
|
rs1458464216
|
0.00001
|
|
NM_001267550.2(TTN):c.1489G>T (p.Glu497Ter)
|
rs1185562018
|
0.00001
|
|
NM_001267550.2(TTN):c.14925C>G (p.Val4975=)
|
rs765070689
|
0.00001
|
|
NM_001267550.2(TTN):c.14983C>T (p.Pro4995Ser)
|
rs776578141
|
0.00001
|
|
NM_001267550.2(TTN):c.15003C>T (p.Leu5001=)
|
rs1430516736
|
0.00001
|
|
NM_001267550.2(TTN):c.15006T>C (p.His5002=)
|
rs771278620
|
0.00001
|
|
NM_001267550.2(TTN):c.15040A>T (p.Thr5014Ser)
|
rs143093473
|
0.00001
|
|
NM_001267550.2(TTN):c.15054T>C (p.Asn5018=)
|
rs2081171658
|
0.00001
|
|
NM_001267550.2(TTN):c.15111T>A (p.Ala5037=)
|
rs2081160520
|
0.00001
|
|
NM_001267550.2(TTN):c.15147T>C (p.Ser5049=)
|
rs774593004
|
0.00001
|
|
NM_001267550.2(TTN):c.15273T>C (p.Asn5091=)
|
rs1178246344
|
0.00001
|
|
NM_001267550.2(TTN):c.15309A>G (p.Pro5103=)
|
rs1222878788
|
0.00001
|
|
NM_001267550.2(TTN):c.15345T>A (p.Ile5115=)
|
rs878891236
|
0.00001
|
|
NM_001267550.2(TTN):c.15346C>T (p.Arg5116Ter)
|
rs1057518470
|
0.00001
|
|
NM_001267550.2(TTN):c.1537-2A>G
|
rs749182164
|
0.00001
|
|
NM_001267550.2(TTN):c.15408G>A (p.Ser5136=)
|
rs761269554
|
0.00001
|
|
NM_001267550.2(TTN):c.15420A>G (p.Ala5140=)
|
rs1297689224
|
0.00001
|
|
NM_001267550.2(TTN):c.15492C>T (p.Leu5164=)
|
rs776497718
|
0.00001
|
|
NM_001267550.2(TTN):c.15496+20A>T
|
rs2081058208
|
0.00001
|
|
NM_001267550.2(TTN):c.15528T>C (p.Asp5176=)
|
rs768534143
|
0.00001
|
|
NM_001267550.2(TTN):c.15618G>A (p.Glu5206=)
|
rs1298664139
|
0.00001
|
|
NM_001267550.2(TTN):c.15775+8T>C
|
rs371673901
|
0.00001
|
|
NM_001267550.2(TTN):c.15775+9A>G
|
rs746563654
|
0.00001
|
|
NM_001267550.2(TTN):c.15776-8C>T
|
rs751405752
|
0.00001
|
|
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter)
|
rs372277017
|
0.00001
|
|
NM_001267550.2(TTN):c.157G>A (p.Gly53Ser)
|
rs150902810
|
0.00001
|
|
NM_001267550.2(TTN):c.15807G>A (p.Leu5269=)
|
rs1291505269
|
0.00001
|
|
NM_001267550.2(TTN):c.1584C>T (p.Ser528=)
|
rs267599093
|
0.00001
|
|
NM_001267550.2(TTN):c.15861G>A (p.Thr5287=)
|
rs370299812
|
0.00001
|
|
NM_001267550.2(TTN):c.15939C>T (p.Asn5313=)
|
rs1277351962
|
0.00001
|
|
NM_001267550.2(TTN):c.15972G>A (p.Glu5324=)
|
rs1057522988
|
0.00001
|
|
NM_001267550.2(TTN):c.15981C>T (p.Asp5327=)
|
rs1278975928
|
0.00001
|
|
NM_001267550.2(TTN):c.16017G>A (p.Val5339=)
|
rs587780989
|
0.00001
|
|
NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn)
|
rs1190242728
|
0.00001
|
|
NM_001267550.2(TTN):c.16055-11G>A
|
rs763387126
|
0.00001
|
|
NM_001267550.2(TTN):c.16058G>A (p.Arg5353Gln)
|
rs751653047
|
0.00001
|
|
NM_001267550.2(TTN):c.16090C>T (p.Arg5364Cys)
|
rs886044310
|
0.00001
|
|
NM_001267550.2(TTN):c.16096G>A (p.Val5366Met)
|
rs372176136
|
0.00001
|
|
NM_001267550.2(TTN):c.160G>A (p.Val54Met)
|
rs139517732
|
0.00001
|
|
NM_001267550.2(TTN):c.16159A>C (p.Arg5387=)
|
rs371501460
|
0.00001
|
|
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)
|
rs772235481
|
0.00001
|
|
NM_001267550.2(TTN):c.16342+17G>A
|
rs1026013164
|
0.00001
|
|
NM_001267550.2(TTN):c.16343-12C>T
|
rs895860682
|
0.00001
|
|
NM_001267550.2(TTN):c.16365A>G (p.Lys5455=)
|
rs1294497237
|
0.00001
|
|
NM_001267550.2(TTN):c.16440A>C (p.Thr5480=)
|
rs763831832
|
0.00001
|
|
NM_001267550.2(TTN):c.16467G>A (p.Glu5489=)
|
rs1479084461
|
0.00001
|
|
NM_001267550.2(TTN):c.16530T>C (p.Tyr5510=)
|
rs970449071
|
0.00001
|
|
NM_001267550.2(TTN):c.1653T>G (p.Thr551=)
|
rs1446225251
|
0.00001
|
|
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)
|
rs535319438
|
0.00001
|
|
NM_001267550.2(TTN):c.16743T>C (p.Asp5581=)
|
rs754798297
|
0.00001
|
|
NM_001267550.2(TTN):c.16750A>G (p.Ile5584Val)
|
rs368116422
|
0.00001
|
|
NM_001267550.2(TTN):c.16854C>T (p.Ala5618=)
|
rs769489900
|
0.00001
|
|
NM_001267550.2(TTN):c.16893A>G (p.Val5631=)
|
rs757393270
|
0.00001
|
|
NM_001267550.2(TTN):c.16956C>T (p.Tyr5652=)
|
rs755186242
|
0.00001
|
|
NM_001267550.2(TTN):c.16975G>A (p.Glu5659Lys)
|
rs763708860
|
0.00001
|
|
NM_001267550.2(TTN):c.17032C>T (p.Arg5678Ter)
|
rs1199616569
|
0.00001
|
|
NM_001267550.2(TTN):c.17047T>G (p.Tyr5683Asp)
|
rs371062603
|
0.00001
|
|
NM_001267550.2(TTN):c.17082G>T (p.Leu5694=)
|
rs750996600
|
0.00001
|
|
NM_001267550.2(TTN):c.17145G>T (p.Val5715=)
|
rs1199177902
|
0.00001
|
|
NM_001267550.2(TTN):c.17182+5G>T
|
rs2080545375
|
0.00001
|
|
NM_001267550.2(TTN):c.17183-13A>T
|
rs768911428
|
0.00001
|
|
NM_001267550.2(TTN):c.17189C>T (p.Pro5730Leu)
|
rs779187099
|
0.00001
|
|
NM_001267550.2(TTN):c.17216C>T (p.Thr5739Ile)
|
rs751087281
|
0.00001
|
|
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp)
|
rs377193479
|
0.00001
|
|
NM_001267550.2(TTN):c.17279C>T (p.Thr5760Met)
|
rs770310501
|
0.00001
|
|
NM_001267550.2(TTN):c.17301C>T (p.Ser5767=)
|
rs777677229
|
0.00001
|
|
NM_001267550.2(TTN):c.1731A>G (p.Leu577=)
|
rs1421574674
|
0.00001
|
|
NM_001267550.2(TTN):c.17320G>A (p.Asp5774Asn)
|
rs752660722
|
0.00001
|
|
NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met)
|
rs928844023
|
0.00001
|
|
NM_001267550.2(TTN):c.17331A>T (p.Arg5777Ser)
|
rs367942154
|
0.00001
|
|
NM_001267550.2(TTN):c.17346C>T (p.Asn5782=)
|
rs535281449
|
0.00001
|
|
NM_001267550.2(TTN):c.17375T>C (p.Ile5792Thr)
|
rs1225094303
|
0.00001
|
|
NM_001267550.2(TTN):c.17445A>G (p.Ala5815=)
|
rs1227218365
|
0.00001
|
|
NM_001267550.2(TTN):c.17461+14G>A
|
rs751425418
|
0.00001
|
|
NM_001267550.2(TTN):c.17556T>C (p.Ile5852=)
|
rs370776424
|
0.00001
|
|
NM_001267550.2(TTN):c.17577T>C (p.Asp5859=)
|
rs1419421654
|
0.00001
|
|
NM_001267550.2(TTN):c.17645T>C (p.Ile5882Thr)
|
rs763665430
|
0.00001
|
|
NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr)
|
rs775293848
|
0.00001
|
|
NM_001267550.2(TTN):c.17733T>C (p.Asn5911=)
|
rs912253842
|
0.00001
|
|
NM_001267550.2(TTN):c.17741-6G>A
|
rs748443352
|
0.00001
|
|
NM_001267550.2(TTN):c.17910T>C (p.His5970=)
|
rs1175537809
|
0.00001
|
|
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=)
|
rs373963067
|
0.00001
|
|
NM_001267550.2(TTN):c.1800+16C>T
|
rs754460012
|
0.00001
|
|
NM_001267550.2(TTN):c.1800+4A>G
|
rs998572909
|
0.00001
|
|
NM_001267550.2(TTN):c.18028+17T>C
|
rs764325809
|
0.00001
|
|
NM_001267550.2(TTN):c.18029-9T>C
|
rs779377464
|
0.00001
|
|
NM_001267550.2(TTN):c.18091T>C (p.Leu6031=)
|
rs1479135347
|
0.00001
|
|
NM_001267550.2(TTN):c.18098C>T (p.Ala6033Val)
|
rs771457862
|
0.00001
|
|
NM_001267550.2(TTN):c.18150A>G (p.Lys6050=)
|
rs991259759
|
0.00001
|
|
NM_001267550.2(TTN):c.18159C>T (p.His6053=)
|
rs2080192781
|
0.00001
|
|
NM_001267550.2(TTN):c.18297C>T (p.Leu6099=)
|
rs764712226
|
0.00001
|
|
NM_001267550.2(TTN):c.18308-17T>C
|
rs1392151041
|
0.00001
|
|
NM_001267550.2(TTN):c.18308-8A>G
|
rs754178580
|
0.00001
|
|
NM_001267550.2(TTN):c.18330G>A (p.Lys6110=)
|
rs1350814757
|
0.00001
|
|
NM_001267550.2(TTN):c.18381C>T (p.Cys6127=)
|
rs371610668
|
0.00001
|
|
NM_001267550.2(TTN):c.18426C>T (p.Asp6142=)
|
rs1435792777
|
0.00001
|
|
NM_001267550.2(TTN):c.18445A>G (p.Ile6149Val)
|
rs368897297
|
0.00001
|
|
NM_001267550.2(TTN):c.18456T>C (p.His6152=)
|
rs756540833
|
0.00001
|
|
NM_001267550.2(TTN):c.18558G>A (p.Thr6186=)
|
rs778145097
|
0.00001
|
|
NM_001267550.2(TTN):c.18560C>T (p.Ala6187Val)
|
rs758380777
|
0.00001
|
|
NM_001267550.2(TTN):c.18589+18A>G
|
rs752521286
|
0.00001
|
|
NM_001267550.2(TTN):c.18589+4C>T
|
rs1449021840
|
0.00001
|
|
NM_001267550.2(TTN):c.18597C>A (p.Pro6199=)
|
rs753370006
|
0.00001
|
|
NM_001267550.2(TTN):c.18600C>G (p.Thr6200=)
|
rs1224786438
|
0.00001
|
|
NM_001267550.2(TTN):c.18618G>A (p.Lys6206=)
|
rs1348113407
|
0.00001
|
|
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=)
|
rs772600691
|
0.00001
|
|
NM_001267550.2(TTN):c.18675A>G (p.Thr6225=)
|
rs2080000865
|
0.00001
|
|
NM_001267550.2(TTN):c.1869A>G (p.Gln623=)
|
rs750034931
|
0.00001
|
|
NM_001267550.2(TTN):c.18709A>T (p.Arg6237Trp)
|
rs750368911
|
0.00001
|
|
NM_001267550.2(TTN):c.18717T>A (p.Ile6239=)
|
rs765483284
|
0.00001
|
|
NM_001267550.2(TTN):c.18744C>T (p.Thr6248=)
|
rs775965000
|
0.00001
|
|
NM_001267550.2(TTN):c.18782G>A (p.Cys6261Tyr)
|
rs1060500581
|
0.00001
|
|
NM_001267550.2(TTN):c.18840C>T (p.Cys6280=)
|
rs1329418633
|
0.00001
|
|
NM_001267550.2(TTN):c.18868+8A>T
|
rs932365960
|
0.00001
|
|
NM_001267550.2(TTN):c.18869-11T>C
|
rs1317638543
|
0.00001
|
|
NM_001267550.2(TTN):c.18870A>G (p.Glu6290=)
|
rs777577096
|
0.00001
|
|
NM_001267550.2(TTN):c.18957T>C (p.Pro6319=)
|
rs773018365
|
0.00001
|
|
NM_001267550.2(TTN):c.18972C>T (p.Thr6324=)
|
rs769659495
|
0.00001
|
|
NM_001267550.2(TTN):c.189T>C (p.Ala63=)
|
rs1057520389
|
0.00001
|
|
NM_001267550.2(TTN):c.18G>A (p.Pro6=)
|
rs755302800
|
0.00001
|
|
NM_001267550.2(TTN):c.19023A>G (p.Ser6341=)
|
rs1256528190
|
0.00001
|
|
NM_001267550.2(TTN):c.19036G>A (p.Val6346Met)
|
rs537966944
|
0.00001
|
|
NM_001267550.2(TTN):c.19147+12A>T
|
rs72648952
|
0.00001
|
|
NM_001267550.2(TTN):c.19203C>T (p.Pro6401=)
|
rs369538649
|
0.00001
|
|
NM_001267550.2(TTN):c.1920G>A (p.Val640=)
|
rs1361872004
|
0.00001
|
|
NM_001267550.2(TTN):c.1925T>C (p.Ile642Thr)
|
rs772036467
|
0.00001
|
|
NM_001267550.2(TTN):c.19314C>T (p.Asn6438=)
|
rs756954714
|
0.00001
|
|
NM_001267550.2(TTN):c.19317G>C (p.Val6439=)
|
rs878854289
|
0.00001
|
|
NM_001267550.2(TTN):c.19389C>T (p.Phe6463=)
|
rs267599062
|
0.00001
|
|
NM_001267550.2(TTN):c.19426+17C>A
|
rs1264429783
|
0.00001
|
|
NM_001267550.2(TTN):c.19426+7A>G
|
rs756760290
|
0.00001
|
|
NM_001267550.2(TTN):c.19426G>A (p.Asp6476Asn)
|
rs1399156064
|
0.00001
|
|
NM_001267550.2(TTN):c.19427-10C>T
|
rs1273448289
|
0.00001
|
|
NM_001267550.2(TTN):c.19427-20T>C
|
rs765524995
|
0.00001
|
|
NM_001267550.2(TTN):c.19447T>C (p.Phe6483Leu)
|
rs373750655
|
0.00001
|
|
NM_001267550.2(TTN):c.19491T>C (p.Ser6497=)
|
rs750568891
|
0.00001
|
|
NM_001267550.2(TTN):c.19581C>T (p.Tyr6527=)
|
rs746828415
|
0.00001
|
|
NM_001267550.2(TTN):c.19714+19C>T
|
rs776163026
|
0.00001
|
|
NM_001267550.2(TTN):c.19715-16C>G
|
rs1027256053
|
0.00001
|
|
NM_001267550.2(TTN):c.19715-20A>G
|
rs749359497
|
0.00001
|
|
NM_001267550.2(TTN):c.19715-7T>C
|
rs532527175
|
0.00001
|
|
NM_001267550.2(TTN):c.198G>A (p.Thr66=)
|
rs764223195
|
0.00001
|
|
NM_001267550.2(TTN):c.19931A>G (p.Tyr6644Cys)
|
rs375417679
|
0.00001
|
|
NM_001267550.2(TTN):c.19949A>G (p.Asn6650Ser)
|
rs751222632
|
0.00001
|
|
NM_001267550.2(TTN):c.19970G>T (p.Cys6657Phe)
|
rs776748717
|
0.00001
|
|
NM_001267550.2(TTN):c.19977G>A (p.Thr6659=)
|
rs1060503954
|
0.00001
|
|
NM_001267550.2(TTN):c.19983G>A (p.Leu6661=)
|
rs1383144902
|
0.00001
|
|
NM_001267550.2(TTN):c.19994-13C>T
|
rs775393005
|
0.00001
|
|
NM_001267550.2(TTN):c.20041G>A (p.Ala6681Thr)
|
rs779405672
|
0.00001
|
|
NM_001267550.2(TTN):c.20085A>C (p.Pro6695=)
|
rs1287032649
|
0.00001
|
|
NM_001267550.2(TTN):c.20096T>C (p.Val6699Ala)
|
rs907862282
|
0.00001
|
|
NM_001267550.2(TTN):c.20107C>T (p.Arg6703Ter)
|
rs2079499416
|
0.00001
|
|
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=)
|
rs727504776
|
0.00001
|
|
NM_001267550.2(TTN):c.20235C>T (p.Pro6745=)
|
rs528625782
|
0.00001
|
|
NM_001267550.2(TTN):c.20283T>C (p.Pro6761=)
|
rs1467347098
|
0.00001
|
|
NM_001267550.2(TTN):c.20396G>A (p.Arg6799Gln)
|
rs780069933
|
0.00001
|
|
NM_001267550.2(TTN):c.20579T>C (p.Leu6860Pro)
|
rs767944090
|
0.00001
|
|
NM_001267550.2(TTN):c.20605G>A (p.Glu6869Lys)
|
rs746830456
|
0.00001
|
|
NM_001267550.2(TTN):c.20692A>G (p.Ser6898Gly)
|
rs878854291
|
0.00001
|
|
NM_001267550.2(TTN):c.20696A>G (p.Glu6899Gly)
|
rs777803266
|
0.00001
|
|
NM_001267550.2(TTN):c.2077-12C>T
|
rs988316772
|
0.00001
|
|
NM_001267550.2(TTN):c.20808G>A (p.Arg6936=)
|
rs773342572
|
0.00001
|
|
NM_001267550.2(TTN):c.2082C>T (p.Asp694=)
|
rs534874686
|
0.00001
|
|
NM_001267550.2(TTN):c.20836+19G>A
|
rs746605069
|
0.00001
|
|
NM_001267550.2(TTN):c.20836+8C>T
|
rs768718820
|
0.00001
|
|
NM_001267550.2(TTN):c.20836+9A>G
|
rs982238257
|
0.00001
|
|
NM_001267550.2(TTN):c.20841C>T (p.Pro6947=)
|
rs768971707
|
0.00001
|
|
NM_001267550.2(TTN):c.20869A>T (p.Met6957Leu)
|
rs375262781
|
0.00001
|
|
NM_001267550.2(TTN):c.20873C>T (p.Thr6958Met)
|
rs371824963
|
0.00001
|
|
NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met)
|
rs765257439
|
0.00001
|
|
NM_001267550.2(TTN):c.20892G>A (p.Thr6964=)
|
rs727504623
|
0.00001
|
|
NM_001267550.2(TTN):c.20937T>C (p.Val6979=)
|
rs2078985500
|
0.00001
|
|
NM_001267550.2(TTN):c.21028G>A (p.Val7010Ile)
|
rs564660466
|
0.00001
|
|
NM_001267550.2(TTN):c.210G>T (p.Val70=)
|
rs746033038
|
0.00001
|
|
NM_001267550.2(TTN):c.21115+8C>T
|
rs1199697682
|
0.00001
|
|
NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter)
|
rs576359448
|
0.00001
|
|
NM_001267550.2(TTN):c.2113G>C (p.Val705Leu)
|
rs1320087550
|
0.00001
|
|
NM_001267550.2(TTN):c.21142C>T (p.Arg7048Ter)
|
rs770579313
|
0.00001
|
|
NM_001267550.2(TTN):c.21143G>A (p.Arg7048Gln)
|
rs148072021
|
0.00001
|
|
NM_001267550.2(TTN):c.21273A>G (p.Gln7091=)
|
rs878903172
|
0.00001
|
|
NM_001267550.2(TTN):c.21279A>G (p.Thr7093=)
|
rs727504765
|
0.00001
|
|
NM_001267550.2(TTN):c.21348C>T (p.Cys7116=)
|
rs750661972
|
0.00001
|
|
NM_001267550.2(TTN):c.21354T>G (p.Ala7118=)
|
rs754163259
|
0.00001
|
|
NM_001267550.2(TTN):c.21403+9A>T
|
rs1456074713
|
0.00001
|
|
NM_001267550.2(TTN):c.21417T>C (p.Phe7139=)
|
rs886042283
|
0.00001
|
|
NM_001267550.2(TTN):c.21497T>G (p.Phe7166Cys)
|
rs781740874
|
0.00001
|
|
NM_001267550.2(TTN):c.21570T>G (p.Thr7190=)
|
rs889991615
|
0.00001
|
|
NM_001267550.2(TTN):c.21574G>A (p.Ala7192Thr)
|
rs1212601280
|
0.00001
|
|
NM_001267550.2(TTN):c.2157G>A (p.Glu719=)
|
rs762041830
|
0.00001
|
|
NM_001267550.2(TTN):c.21624C>T (p.Thr7208=)
|
rs372818044
|
0.00001
|
|
NM_001267550.2(TTN):c.21666C>A (p.Thr7222=)
|
rs1041546705
|
0.00001
|
|
NM_001267550.2(TTN):c.21667C>T (p.Arg7223Cys)
|
rs1156609638
|
0.00001
|
|
NM_001267550.2(TTN):c.21683-15T>A
|
rs561254355
|
0.00001
|
|
NM_001267550.2(TTN):c.21717T>C (p.His7239=)
|
rs912862413
|
0.00001
|
|
NM_001267550.2(TTN):c.21870G>C (p.Leu7290=)
|
rs2078707088
|
0.00001
|
|
NM_001267550.2(TTN):c.21888T>C (p.Asp7296=)
|
rs767681708
|
0.00001
|
|
NM_001267550.2(TTN):c.21892G>A (p.Gly7298Arg)
|
rs878854292
|
0.00001
|
|
NM_001267550.2(TTN):c.21900T>C (p.Tyr7300=)
|
rs1430630528
|
0.00001
|
|
NM_001267550.2(TTN):c.21961G>A (p.Glu7321Lys)
|
rs2078691261
|
0.00001
|
|
NM_001267550.2(TTN):c.21981G>T (p.Thr7327=)
|
rs775230627
|
0.00001
|
|
NM_001267550.2(TTN):c.21G>A (p.Thr7=)
|
rs535956871
|
0.00001
|
|
NM_001267550.2(TTN):c.22017G>A (p.Ser7339=)
|
rs777676361
|
0.00001
|
|
NM_001267550.2(TTN):c.2203T>C (p.Tyr735His)
|
rs754432983
|
0.00001
|
|
NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg)
|
rs876658047
|
0.00001
|
|
NM_001267550.2(TTN):c.22155G>A (p.Val7385=)
|
rs767194863
|
0.00001
|
|
NM_001267550.2(TTN):c.22240+14A>G
|
rs1288832655
|
0.00001
|
|
NM_001267550.2(TTN):c.22241-14A>G
|
rs371352901
|
0.00001
|
|
NM_001267550.2(TTN):c.22241-7C>G
|
rs749798825
|
0.00001
|
|
NM_001267550.2(TTN):c.22255C>T (p.Pro7419Ser)
|
rs1486377872
|
0.00001
|
|
NM_001267550.2(TTN):c.2229C>T (p.Ala743=)
|
rs746990488
|
0.00001
|
|
NM_001267550.2(TTN):c.2233A>G (p.Lys745Glu)
|
rs139957325
|
0.00001
|
|
NM_001267550.2(TTN):c.22359T>C (p.Tyr7453=)
|
rs778154239
|
0.00001
|
|
NM_001267550.2(TTN):c.22528+14T>C
|
rs767250979
|
0.00001
|
|
NM_001267550.2(TTN):c.22529-20C>G
|
rs1356521619
|
0.00001
|
|
NM_001267550.2(TTN):c.22529-7C>A
|
rs769076842
|
0.00001
|
|
NM_001267550.2(TTN):c.22529-9A>G
|
rs1429306712
|
0.00001
|
|
NM_001267550.2(TTN):c.2253A>G (p.Gln751=)
|
rs144495525
|
0.00001
|
|
NM_001267550.2(TTN):c.2254C>T (p.Arg752Cys)
|
rs200677631
|
0.00001
|
|
NM_001267550.2(TTN):c.22629G>A (p.Pro7543=)
|
rs776917811
|
0.00001
|
|
NM_001267550.2(TTN):c.22633C>T (p.Arg7545Ter)
|
rs764687326
|
0.00001
|
|
NM_001267550.2(TTN):c.22687A>T (p.Ile7563Phe)
|
rs1321824189
|
0.00001
|
|
NM_001267550.2(TTN):c.22714T>C (p.Leu7572=)
|
rs767716643
|
0.00001
|
|
NM_001267550.2(TTN):c.22806C>T (p.Leu7602=)
|
rs375666120
|
0.00001
|
|
NM_001267550.2(TTN):c.22817-15T>G
|
rs727504821
|
0.00001
|
|
NM_001267550.2(TTN):c.22817-9G>A
|
rs1396585490
|
0.00001
|
|
NM_001267550.2(TTN):c.22860A>G (p.Ala7620=)
|
rs778145134
|
0.00001
|
|
NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter)
|
rs1340940049
|
0.00001
|
|
NM_001267550.2(TTN):c.22993T>C (p.Leu7665=)
|
rs878916672
|
0.00001
|
|
NM_001267550.2(TTN):c.23005A>G (p.Asn7669Asp)
|
rs1060500486
|
0.00001
|
|
NM_001267550.2(TTN):c.23091A>G (p.Thr7697=)
|
rs1198504900
|
0.00001
|
|
NM_001267550.2(TTN):c.23100A>T (p.Ala7700=)
|
rs775508685
|
0.00001
|
|
NM_001267550.2(TTN):c.23215C>T (p.Arg7739Ter)
|
rs372250586
|
0.00001
|
|
NM_001267550.2(TTN):c.23250C>T (p.Ile7750=)
|
rs1060503967
|
0.00001
|
|
NM_001267550.2(TTN):c.23277T>C (p.Leu7759=)
|
rs2078177919
|
0.00001
|
|
NM_001267550.2(TTN):c.23325A>G (p.Lys7775=)
|
rs1232018476
|
0.00001
|
|
NM_001267550.2(TTN):c.23352G>A (p.Thr7784=)
|
rs745476881
|
0.00001
|
|
NM_001267550.2(TTN):c.23377+18C>T
|
rs373995323
|
0.00001
|
|
NM_001267550.2(TTN):c.23377+7A>G
|
rs377655856
|
0.00001
|
|
NM_001267550.2(TTN):c.23386C>T (p.Arg7796Ter)
|
rs748111134
|
0.00001
|
|
NM_001267550.2(TTN):c.23469A>G (p.Pro7823=)
|
rs551736293
|
0.00001
|
|
NM_001267550.2(TTN):c.2354T>C (p.Met785Thr)
|
rs1060500532
|
0.00001
|
|
NM_001267550.2(TTN):c.23567G>A (p.Gly7856Glu)
|
rs919783694
|
0.00001
|
|
NM_001267550.2(TTN):c.23578G>A (p.Ala7860Thr)
|
rs138076523
|
0.00001
|
|
NM_001267550.2(TTN):c.23622T>C (p.Ala7874=)
|
rs777752532
|
0.00001
|
|
NM_001267550.2(TTN):c.2370+3G>A
|
rs377577258
|
0.00001
|
|
NM_001267550.2(TTN):c.2371-1G>A
|
rs755365744
|
0.00001
|
|
NM_001267550.2(TTN):c.23725G>C (p.Glu7909Gln)
|
rs1161435142
|
0.00001
|
|
NM_001267550.2(TTN):c.23814A>G (p.Thr7938=)
|
rs566680341
|
0.00001
|
|
NM_001267550.2(TTN):c.23847C>T (p.Pro7949=)
|
rs377009958
|
0.00001
|
|
NM_001267550.2(TTN):c.23880C>T (p.Ser7960=)
|
rs1330673944
|
0.00001
|
|
NM_001267550.2(TTN):c.23895C>A (p.Asn7965Lys)
|
rs1363515138
|
0.00001
|
|
NM_001267550.2(TTN):c.2391A>G (p.Leu797=)
|
rs147124267
|
0.00001
|
|
NM_001267550.2(TTN):c.23939-13C>A
|
rs876658045
|
0.00001
|
|
NM_001267550.2(TTN):c.23979C>T (p.Asp7993=)
|
rs751011918
|
0.00001
|
|
NM_001267550.2(TTN):c.23997G>A (p.Gly7999=)
|
rs1261213256
|
0.00001
|
|
NM_001267550.2(TTN):c.24000C>T (p.Ala8000=)
|
rs764876147
|
0.00001
|
|
NM_001267550.2(TTN):c.24012G>A (p.Leu8004=)
|
rs879119850
|
0.00001
|
|
NM_001267550.2(TTN):c.24013G>C (p.Glu8005Gln)
|
rs757042397
|
0.00001
|
|
NM_001267550.2(TTN):c.24038C>T (p.Pro8013Leu)
|
rs773761640
|
0.00001
|
|
NM_001267550.2(TTN):c.24171T>C (p.Cys8057=)
|
rs777482646
|
0.00001
|
|
NM_001267550.2(TTN):c.24207A>G (p.Ser8069=)
|
rs370099448
|
0.00001
|
|
NM_001267550.2(TTN):c.24390T>C (p.Asp8130=)
|
rs1158674912
|
0.00001
|
|
NM_001267550.2(TTN):c.24444T>C (p.Tyr8148=)
|
rs775467284
|
0.00001
|
|
NM_001267550.2(TTN):c.24453C>T (p.Leu8151=)
|
rs772386098
|
0.00001
|
|
NM_001267550.2(TTN):c.24469G>A (p.Gly8157Ser)
|
rs753025964
|
0.00001
|
|
NM_001267550.2(TTN):c.24492T>C (p.His8164=)
|
rs2077879773
|
0.00001
|
|
NM_001267550.2(TTN):c.24493C>A (p.Leu8165Ile)
|
rs1060500582
|
0.00001
|
|
NM_001267550.2(TTN):c.24505+12C>T
|
rs764092955
|
0.00001
|
|
NM_001267550.2(TTN):c.24506-8C>G
|
rs748675191
|
0.00001
|
|
NM_001267550.2(TTN):c.24519T>C (p.Phe8173=)
|
rs878999612
|
0.00001
|
|
NM_001267550.2(TTN):c.24520G>A (p.Val8174Met)
|
rs727504961
|
0.00001
|
|
NM_001267550.2(TTN):c.24546T>A (p.Val8182=)
|
rs397517508
|
0.00001
|
|
NM_001267550.2(TTN):c.24563T>C (p.Ile8188Thr)
|
rs1184649078
|
0.00001
|
|
NM_001267550.2(TTN):c.24588C>A (p.Gly8196=)
|
rs1057523933
|
0.00001
|
|
NM_001267550.2(TTN):c.24696G>A (p.Glu8232=)
|
rs2077824078
|
0.00001
|
|
NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys)
|
rs377762626
|
0.00001
|
|
NM_001267550.2(TTN):c.24720G>A (p.Gln8240=)
|
rs1350676942
|
0.00001
|
|
NM_001267550.2(TTN):c.24723C>T (p.Tyr8241=)
|
rs374437449
|
0.00001
|
|
NM_001267550.2(TTN):c.24729C>T (p.Cys8243=)
|
rs751527077
|
0.00001
|
|
NM_001267550.2(TTN):c.24784+12G>C
|
rs747821616
|
0.00001
|
|
NM_001267550.2(TTN):c.24852G>A (p.Gln8284=)
|
rs1375269044
|
0.00001
|
|
NM_001267550.2(TTN):c.24888T>C (p.Ser8296=)
|
rs535603112
|
0.00001
|
|
NM_001267550.2(TTN):c.24914G>A (p.Arg8305Gln)
|
rs759985618
|
0.00001
|
|
NM_001267550.2(TTN):c.24927A>G (p.Ala8309=)
|
rs1179963628
|
0.00001
|
|
NM_001267550.2(TTN):c.2493+16G>A
|
rs1195233066
|
0.00001
|
|
NM_001267550.2(TTN):c.2493+18A>G
|
rs750885375
|
0.00001
|
|
NM_001267550.2(TTN):c.2494-17A>C
|
rs768930865
|
0.00001
|
|
NM_001267550.2(TTN):c.2494-5T>C
|
rs370759512
|
0.00001
|
|
NM_001267550.2(TTN):c.2494-7C>A
|
rs758664336
|
0.00001
|
|
NM_001267550.2(TTN):c.24957T>C (p.Ala8319=)
|
rs758868965
|
0.00001
|
|
NM_001267550.2(TTN):c.25035C>T (p.Val8345=)
|
rs781552736
|
0.00001
|
|
NM_001267550.2(TTN):c.25036G>A (p.Ala8346Thr)
|
rs755302381
|
0.00001
|
|
NM_001267550.2(TTN):c.2505C>T (p.Ala835=)
|
rs754725705
|
0.00001
|
|
NM_001267550.2(TTN):c.25064-4A>G
|
rs747247583
|
0.00001
|
|
NM_001267550.2(TTN):c.25144C>T (p.Arg8382Cys)
|
rs776519143
|
0.00001
|
|
NM_001267550.2(TTN):c.25155C>T (p.Gly8385=)
|
rs772383867
|
0.00001
|
|
NM_001267550.2(TTN):c.25215T>A (p.Asn8405Lys)
|
rs371923232
|
0.00001
|
|
NM_001267550.2(TTN):c.25351+7A>G
|
rs753224694
|
0.00001
|
|
NM_001267550.2(TTN):c.25352-18G>T
|
rs2077644291
|
0.00001
|
|
NM_001267550.2(TTN):c.25383del (p.Lys8461fs)
|
rs1452206214
|
0.00001
|
|
NM_001267550.2(TTN):c.25392A>C (p.Ser8464=)
|
rs766560212
|
0.00001
|
|
NM_001267550.2(TTN):c.25434T>C (p.His8478=)
|
rs1309181933
|
0.00001
|
|
NM_001267550.2(TTN):c.25489C>T (p.Arg8497Cys)
|
rs369517119
|
0.00001
|
|
NM_001267550.2(TTN):c.25599C>T (p.Ile8533=)
|
rs779856071
|
0.00001
|
|
NM_001267550.2(TTN):c.2559G>A (p.Gln853=)
|
rs1259006061
|
0.00001
|
|
NM_001267550.2(TTN):c.25639+11G>C
|
rs1054934179
|
0.00001
|
|
NM_001267550.2(TTN):c.25639+2T>G
|
rs769452066
|
0.00001
|
|
NM_001267550.2(TTN):c.25639+7G>C
|
rs1365164180
|
0.00001
|
|
NM_001267550.2(TTN):c.25640-4A>G
|
rs886055292
|
0.00001
|
|
NM_001267550.2(TTN):c.25640-8T>C
|
rs1184501172
|
0.00001
|
|
NM_001267550.2(TTN):c.2568C>T (p.Thr856=)
|
rs1282647790
|
0.00001
|
|
NM_001267550.2(TTN):c.25719C>T (p.Ile8573=)
|
rs878991106
|
0.00001
|
|
NM_001267550.2(TTN):c.2574G>C (p.Ser858=)
|
rs1265382651
|
0.00001
|
|
NM_001267550.2(TTN):c.25783A>T (p.Lys8595Ter)
|
rs887577241
|
0.00001
|
|
NM_001267550.2(TTN):c.25800C>T (p.Phe8600=)
|
rs1215707268
|
0.00001
|
|
NM_001267550.2(TTN):c.2580G>A (p.Lys860=)
|
rs1171635736
|
0.00001
|
|
NM_001267550.2(TTN):c.25845A>G (p.Glu8615=)
|
rs758944073
|
0.00001
|
|
NM_001267550.2(TTN):c.25980T>C (p.Val8660=)
|
rs1323872872
|
0.00001
|
|
NM_001267550.2(TTN):c.26030A>G (p.Tyr8677Cys)
|
rs778578388
|
0.00001
|
|
NM_001267550.2(TTN):c.26067C>T (p.Tyr8689=)
|
rs377125716
|
0.00001
|
|
NM_001267550.2(TTN):c.26106C>T (p.Ile8702=)
|
rs1383376933
|
0.00001
|
|
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn)
|
rs377074955
|
0.00001
|
|
NM_001267550.2(TTN):c.26200+5G>A
|
rs727503645
|
0.00001
|
|
NM_001267550.2(TTN):c.26201-20C>A
|
rs761178461
|
0.00001
|
|
NM_001267550.2(TTN):c.26217G>A (p.Val8739=)
|
rs748042389
|
0.00001
|
|
NM_001267550.2(TTN):c.26229T>C (p.Ser8743=)
|
rs2077169820
|
0.00001
|
|
NM_001267550.2(TTN):c.26244C>T (p.Val8748=)
|
rs780219663
|
0.00001
|
|
NM_001267550.2(TTN):c.26247T>C (p.Val8749=)
|
rs765248456
|
0.00001
|
|
NM_001267550.2(TTN):c.26275A>G (p.Ile8759Val)
|
rs1317485542
|
0.00001
|
|
NM_001267550.2(TTN):c.2632T>C (p.Leu878=)
|
rs753808522
|
0.00001
|
|
NM_001267550.2(TTN):c.26373T>C (p.Ile8791=)
|
rs949446550
|
0.00001
|
|
NM_001267550.2(TTN):c.26397G>A (p.Val8799=)
|
rs1445714877
|
0.00001
|
|
NM_001267550.2(TTN):c.26444C>G (p.Ala8815Gly)
|
rs1168744166
|
0.00001
|
|
NM_001267550.2(TTN):c.26482+1G>C
|
rs1440418037
|
0.00001
|
|
NM_001267550.2(TTN):c.26483-15T>C
|
rs773950331
|
0.00001
|
|
NM_001267550.2(TTN):c.2649C>T (p.Phe883=)
|
rs775588479
|
0.00001
|
|
NM_001267550.2(TTN):c.26529G>A (p.Thr8843=)
|
rs747558822
|
0.00001
|
|
NM_001267550.2(TTN):c.26652A>G (p.Val8884=)
|
rs746179492
|
0.00001
|
|
NM_001267550.2(TTN):c.26691T>C (p.Ser8897=)
|
rs758433199
|
0.00001
|
|
NM_001267550.2(TTN):c.26762-9A>G
|
rs200821070
|
0.00001
|
|
NM_001267550.2(TTN):c.26769C>T (p.Thr8923=)
|
rs373578441
|
0.00001
|
|
NM_001267550.2(TTN):c.267G>A (p.Ala89=)
|
rs577716745
|
0.00001
|
|
NM_001267550.2(TTN):c.26830G>A (p.Val8944Ile)
|
rs72648993
|
0.00001
|
|
NM_001267550.2(TTN):c.26882A>G (p.His8961Arg)
|
rs766862084
|
0.00001
|
|
NM_001267550.2(TTN):c.26916C>T (p.Tyr8972=)
|
rs762329439
|
0.00001
|
|
NM_001267550.2(TTN):c.26958C>T (p.Asn8986=)
|
rs1398273084
|
0.00001
|
|
NM_001267550.2(TTN):c.26989A>G (p.Thr8997Ala)
|
rs953177976
|
0.00001
|
|
NM_001267550.2(TTN):c.27045G>A (p.Val9015=)
|
rs769752606
|
0.00001
|
|
NM_001267550.2(TTN):c.27153C>T (p.Ser9051=)
|
rs1159097738
|
0.00001
|
|
NM_001267550.2(TTN):c.27158T>C (p.Phe9053Ser)
|
rs761745332
|
0.00001
|
|
NM_001267550.2(TTN):c.27198C>G (p.Asn9066Lys)
|
rs369529493
|
0.00001
|
|
NM_001267550.2(TTN):c.27237C>T (p.Phe9079=)
|
rs762681330
|
0.00001
|
|
NM_001267550.2(TTN):c.27240T>C (p.Asp9080=)
|
rs1418163017
|
0.00001
|
|
NM_001267550.2(TTN):c.27261A>G (p.Gly9087=)
|
rs878854295
|
0.00001
|
|
NM_001267550.2(TTN):c.27273C>T (p.Cys9091=)
|
rs375546576
|
0.00001
|
|
NM_001267550.2(TTN):c.2730C>T (p.Thr910=)
|
rs375432172
|
0.00001
|
|
NM_001267550.2(TTN):c.27312A>G (p.Thr9104=)
|
rs192433938
|
0.00001
|
|
NM_001267550.2(TTN):c.27328+16C>T
|
rs915309849
|
0.00001
|
|
NM_001267550.2(TTN):c.27328+5G>A
|
rs397517521
|
0.00001
|
|
NM_001267550.2(TTN):c.27329-19T>G
|
rs1177152807
|
0.00001
|
|
NM_001267550.2(TTN):c.27329-1G>T
|
rs1378646156
|
0.00001
|
|
NM_001267550.2(TTN):c.27385C>T (p.Leu9129=)
|
rs2076810907
|
0.00001
|
|
NM_001267550.2(TTN):c.27425C>T (p.Ser9142Leu)
|
rs781609380
|
0.00001
|
|
NM_001267550.2(TTN):c.27427G>T (p.Val9143Phe)
|
rs186857044
|
0.00001
|
|
NM_001267550.2(TTN):c.2745C>G (p.Arg915=)
|
rs773568773
|
0.00001
|
|
NM_001267550.2(TTN):c.27489T>C (p.Thr9163=)
|
rs1012006021
|
0.00001
|
|
NM_001267550.2(TTN):c.27607G>A (p.Glu9203Lys)
|
rs769097909
|
0.00001
|
|
NM_001267550.2(TTN):c.27627G>A (p.Lys9209=)
|
rs772596751
|
0.00001
|
|
NM_001267550.2(TTN):c.27639G>A (p.Pro9213=)
|
rs541105227
|
0.00001
|
|
NM_001267550.2(TTN):c.27654T>G (p.Val9218=)
|
rs780101457
|
0.00001
|
|
NM_001267550.2(TTN):c.27667T>C (p.Ser9223Pro)
|
rs201253546
|
0.00001
|
|
NM_001267550.2(TTN):c.2766C>T (p.Arg922=)
|
rs372617952
|
0.00001
|
|
NM_001267550.2(TTN):c.27670C>T (p.Leu9224=)
|
rs757147575
|
0.00001
|
|
NM_001267550.2(TTN):c.27705G>A (p.Gly9235=)
|
rs759964251
|
0.00001
|
|
NM_001267550.2(TTN):c.27711C>T (p.Ser9237=)
|
rs727504749
|
0.00001
|
|
NM_001267550.2(TTN):c.27746C>T (p.Thr9249Met)
|
rs745792278
|
0.00001
|
|
NM_001267550.2(TTN):c.27783A>G (p.Thr9261=)
|
rs1221102112
|
0.00001
|
|
NM_001267550.2(TTN):c.2778A>G (p.Val926=)
|
rs886038714
|
0.00001
|
|
NM_001267550.2(TTN):c.27810T>C (p.Asn9270=)
|
rs370188078
|
0.00001
|
|
NM_001267550.2(TTN):c.27825T>C (p.Tyr9275=)
|
rs375790254
|
0.00001
|
|
NM_001267550.2(TTN):c.27872T>C (p.Phe9291Ser)
|
rs754982924
|
0.00001
|
|
NM_001267550.2(TTN):c.27886+5T>C
|
rs876658050
|
0.00001
|
|
NM_001267550.2(TTN):c.27896T>G (p.Leu9299Arg)
|
rs879046044
|
0.00001
|
|
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)
|
rs397517527
|
0.00001
|
|
NM_001267550.2(TTN):c.28005T>C (p.Tyr9335=)
|
rs779526034
|
0.00001
|
|
NM_001267550.2(TTN):c.28011C>T (p.Asp9337=)
|
rs757848062
|
0.00001
|
|
NM_001267550.2(TTN):c.28029C>T (p.Asp9343=)
|
rs751194103
|
0.00001
|
|
NM_001267550.2(TTN):c.28055T>C (p.Leu9352Ser)
|
rs776487201
|
0.00001
|
|
NM_001267550.2(TTN):c.28080T>A (p.Ile9360=)
|
rs1220122597
|
0.00001
|
|
NM_001267550.2(TTN):c.28207C>G (p.Leu9403Val)
|
rs752742472
|
0.00001
|
|
NM_001267550.2(TTN):c.2823T>C (p.Thr941=)
|
rs1396426940
|
0.00001
|
|
NM_001267550.2(TTN):c.28293C>G (p.Ala9431=)
|
rs533580342
|
0.00001
|
|
NM_001267550.2(TTN):c.28308A>C (p.Glu9436Asp)
|
rs906433178
|
0.00001
|
|
NM_001267550.2(TTN):c.28353C>T (p.Ser9451=)
|
rs777096848
|
0.00001
|
|
NM_001267550.2(TTN):c.2836G>A (p.Val946Ile)
|
rs752246051
|
0.00001
|
|
NM_001267550.2(TTN):c.2841G>A (p.Ser947=)
|
rs774074192
|
0.00001
|
|
NM_001267550.2(TTN):c.28424T>G (p.Val9475Gly)
|
rs1363580617
|
0.00001
|
|
NM_001267550.2(TTN):c.28425G>T (p.Val9475=)
|
rs727503642
|
0.00001
|
|
NM_001267550.2(TTN):c.28446T>C (p.Ala9482=)
|
rs1270390229
|
0.00001
|
|
NM_001267550.2(TTN):c.28462+3A>G
|
rs1402065855
|
0.00001
|
|
NM_001267550.2(TTN):c.28495C>T (p.Leu9499Phe)
|
rs1060500573
|
0.00001
|
|
NM_001267550.2(TTN):c.28509A>G (p.Val9503=)
|
rs756229382
|
0.00001
|
|
NM_001267550.2(TTN):c.28592A>C (p.Asn9531Thr)
|
rs537464608
|
0.00001
|
|
NM_001267550.2(TTN):c.28653G>C (p.Leu9551=)
|
rs876657601
|
0.00001
|
|
NM_001267550.2(TTN):c.28692C>T (p.Tyr9564=)
|
rs749105848
|
0.00001
|
|
NM_001267550.2(TTN):c.28710T>C (p.Asn9570=)
|
rs727504991
|
0.00001
|
|
NM_001267550.2(TTN):c.28713T>C (p.Asp9571=)
|
rs796888116
|
0.00001
|
|
NM_001267550.2(TTN):c.28739C>A (p.Ser9580Ter)
|
rs375212459
|
0.00001
|
|
NM_001267550.2(TTN):c.28740A>C (p.Ser9580=)
|
rs1165320251
|
0.00001
|
|
NM_001267550.2(TTN):c.28743C>T (p.Ile9581=)
|
rs767025609
|
0.00001
|
|
NM_001267550.2(TTN):c.28753+12T>G
|
rs1203595218
|
0.00001
|
|
NM_001267550.2(TTN):c.2880C>T (p.Val960=)
|
rs1561366469
|
0.00001
|
|
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp)
|
rs397517530
|
0.00001
|
|
NM_001267550.2(TTN):c.28880G>A (p.Gly9627Asp)
|
rs878908638
|
0.00001
|
|
NM_001267550.2(TTN):c.29019C>G (p.Thr9673=)
|
rs774885269
|
0.00001
|
|
NM_001267550.2(TTN):c.29094C>G (p.Leu9698=)
|
rs763143292
|
0.00001
|
|
NM_001267550.2(TTN):c.29134+5G>A
|
rs2075957069
|
0.00001
|
|
NM_001267550.2(TTN):c.2916G>A (p.Pro972=)
|
rs757569345
|
0.00001
|
|
NM_001267550.2(TTN):c.29196A>G (p.Thr9732=)
|
rs1320507977
|
0.00001
|
|
NM_001267550.2(TTN):c.29202G>C (p.Gly9734=)
|
rs1306010487
|
0.00001
|
|
NM_001267550.2(TTN):c.29227G>A (p.Gly9743Ser)
|
rs368073588
|
0.00001
|
|
NM_001267550.2(TTN):c.29333G>A (p.Gly9778Asp)
|
rs775854531
|
0.00001
|
|
NM_001267550.2(TTN):c.29381_29382del (p.Gln9794fs)
|
rs1290002563
|
0.00001
|
|
NM_001267550.2(TTN):c.2940C>T (p.Asp980=)
|
rs201395853
|
0.00001
|
|
NM_001267550.2(TTN):c.29420+10A>G
|
rs759753042
|
0.00001
|
|
NM_001267550.2(TTN):c.295+19G>A
|
rs545578681
|
0.00001
|
|
NM_001267550.2(TTN):c.295+5G>A
|
rs56310717
|
0.00001
|
|
NM_001267550.2(TTN):c.295+8G>T
|
rs372054167
|
0.00001
|
|
NM_001267550.2(TTN):c.29502A>G (p.Glu9834=)
|
rs759468315
|
0.00001
|
|
NM_001267550.2(TTN):c.29559A>C (p.Ala9853=)
|
rs878976342
|
0.00001
|
|
NM_001267550.2(TTN):c.29564A>G (p.Glu9855Gly)
|
rs794727011
|
0.00001
|
|
NM_001267550.2(TTN):c.296-15C>A
|
rs200885207
|
0.00001
|
|
NM_001267550.2(TTN):c.296-19T>C
|
rs959014974
|
0.00001
|
|
NM_001267550.2(TTN):c.296-4G>A
|
rs751859793
|
0.00001
|
|
NM_001267550.2(TTN):c.29605-8C>A
|
rs1178125174
|
0.00001
|
|
NM_001267550.2(TTN):c.2967C>A (p.Phe989Leu)
|
rs376548316
|
0.00001
|
|
NM_001267550.2(TTN):c.29700C>T (p.Val9900=)
|
rs1363173792
|
0.00001
|
|
NM_001267550.2(TTN):c.29733T>C (p.Val9911=)
|
rs749689466
|
0.00001
|
|
NM_001267550.2(TTN):c.29762T>C (p.Ile9921Thr)
|
rs373651676
|
0.00001
|
|
NM_001267550.2(TTN):c.29777A>C (p.Asn9926Thr)
|
rs377147236
|
0.00001
|
|
NM_001267550.2(TTN):c.29864G>A (p.Arg9955Gln)
|
rs182332374
|
0.00001
|
|
NM_001267550.2(TTN):c.29865A>G (p.Arg9955=)
|
rs1449359699
|
0.00001
|
|
NM_001267550.2(TTN):c.29874C>T (p.Leu9958=)
|
rs972874110
|
0.00001
|
|
NM_001267550.2(TTN):c.29931A>C (p.Pro9977=)
|
rs781508217
|
0.00001
|
|
NM_001267550.2(TTN):c.29943C>T (p.Ser9981=)
|
rs543490348
|
0.00001
|
|
NM_001267550.2(TTN):c.29962+17T>C
|
rs771760582
|
0.00001
|
|
NM_001267550.2(TTN):c.30044C>T (p.Pro10015Leu)
|
rs1178694077
|
0.00001
|
|
NM_001267550.2(TTN):c.30132A>G (p.Lys10044=)
|
rs761782268
|
0.00001
|
|
NM_001267550.2(TTN):c.30196G>C (p.Glu10066Gln)
|
rs370072382
|
0.00001
|
|
NM_001267550.2(TTN):c.30219C>T (p.Ile10073=)
|
rs369709449
|
0.00001
|
|
NM_001267550.2(TTN):c.30223+15A>G
|
rs764785148
|
0.00001
|
|
NM_001267550.2(TTN):c.30223+1G>A
|
rs556408709
|
0.00001
|
|
NM_001267550.2(TTN):c.30223+5G>A
|
rs368199297
|
0.00001
|
|
NM_001267550.2(TTN):c.30224-18C>T
|
rs748735506
|
0.00001
|
|
NM_001267550.2(TTN):c.30224-7T>G
|
rs778458915
|
0.00001
|
|
NM_001267550.2(TTN):c.30228A>G (p.Glu10076=)
|
rs753296987
|
0.00001
|
|
NM_001267550.2(TTN):c.30282T>G (p.Ser10094=)
|
rs886042543
|
0.00001
|
|
NM_001267550.2(TTN):c.3033G>A (p.Gly1011=)
|
rs755565775
|
0.00001
|
|
NM_001267550.2(TTN):c.3039T>C (p.Phe1013=)
|
rs764841674
|
0.00001
|
|
NM_001267550.2(TTN):c.30414T>C (p.Asn10138=)
|
rs878990074
|
0.00001
|
|
NM_001267550.2(TTN):c.30420C>A (p.Thr10140=)
|
rs759270137
|
0.00001
|
|
NM_001267550.2(TTN):c.30434-15G>A
|
rs373562293
|
0.00001
|
|
NM_001267550.2(TTN):c.30450C>T (p.Ile10150=)
|
rs761922521
|
0.00001
|
|
NM_001267550.2(TTN):c.30511+10C>T
|
rs746874990
|
0.00001
|
|
NM_001267550.2(TTN):c.30511+1G>C
|
rs879082842
|
0.00001
|
|
NM_001267550.2(TTN):c.3051T>C (p.Ala1017=)
|
rs1185928356
|
0.00001
|
|
NM_001267550.2(TTN):c.30538+7T>C
|
rs969103526
|
0.00001
|
|
NM_001267550.2(TTN):c.30539-19A>G
|
rs1343835676
|
0.00001
|
|
NM_001267550.2(TTN):c.30599-19C>T
|
rs759560479
|
0.00001
|
|
NM_001267550.2(TTN):c.30605C>T (p.Pro10202Leu)
|
rs769528182
|
0.00001
|
|
NM_001267550.2(TTN):c.30614T>C (p.Val10205Ala)
|
rs1060500449
|
0.00001
|
|
NM_001267550.2(TTN):c.30675T>C (p.Arg10225=)
|
rs898902393
|
0.00001
|
|
NM_001267550.2(TTN):c.30682+7T>C
|
rs752353097
|
0.00001
|
|
NM_001267550.2(TTN):c.30683-12T>C
|
rs1239014089
|
0.00001
|
|
NM_001267550.2(TTN):c.30803-16T>A
|
rs1462530460
|
0.00001
|
|
NM_001267550.2(TTN):c.30927G>A (p.Glu10309=)
|
rs1015963344
|
0.00001
|
|
NM_001267550.2(TTN):c.3093T>G (p.Ala1031=)
|
rs375713605
|
0.00001
|
|
NM_001267550.2(TTN):c.30966C>T (p.Asp10322=)
|
rs587780979
|
0.00001
|
|
NM_001267550.2(TTN):c.3096G>A (p.Val1032=)
|
rs879114879
|
0.00001
|
|
NM_001267550.2(TTN):c.31041G>A (p.Glu10347=)
|
rs749890190
|
0.00001
|
|
NM_001267550.2(TTN):c.31207+10A>C
|
rs191252918
|
0.00001
|
|
NM_001267550.2(TTN):c.31239A>G (p.Val10413=)
|
rs778260645
|
0.00001
|
|
NM_001267550.2(TTN):c.31271-13A>T
|
rs1057523378
|
0.00001
|
|
NM_001267550.2(TTN):c.31295A>G (p.Lys10432Arg)
|
rs879134517
|
0.00001
|
|
NM_001267550.2(TTN):c.31348+9T>C
|
rs1163916390
|
0.00001
|
|
NM_001267550.2(TTN):c.31365G>A (p.Lys10455=)
|
rs762392446
|
0.00001
|
|
NM_001267550.2(TTN):c.31404G>A (p.Gln10468=)
|
rs1398027734
|
0.00001
|
|
NM_001267550.2(TTN):c.31426+11T>C
|
rs901251232
|
0.00001
|
|
NM_001267550.2(TTN):c.31426+1G>C
|
rs6749719
|
0.00001
|
|
NM_001267550.2(TTN):c.31453G>T (p.Val10485Phe)
|
rs762572524
|
0.00001
|
|
NM_001267550.2(TTN):c.31494G>A (p.Glu10498=)
|
rs1452074226
|
0.00001
|
|
NM_001267550.2(TTN):c.31514-9T>A
|
rs2073018188
|
0.00001
|
|
NM_001267550.2(TTN):c.31569C>G (p.Ser10523=)
|
rs766691593
|
0.00001
|
|
NM_001267550.2(TTN):c.31594+12T>A
|
rs1210906345
|
0.00001
|
|
NM_001267550.2(TTN):c.31596C>T (p.Val10532=)
|
rs1553858068
|
0.00001
|
|
NM_001267550.2(TTN):c.3164+13G>C
|
rs750352603
|
0.00001
|
|
NM_001267550.2(TTN):c.31647C>A (p.Ile10549=)
|
rs879195515
|
0.00001
|
|
NM_001267550.2(TTN):c.31731G>A (p.Val10577=)
|
rs751447529
|
0.00001
|
|
NM_001267550.2(TTN):c.31762+16T>G
|
rs1024593046
|
0.00001
|
|
NM_001267550.2(TTN):c.31764C>T (p.Val10588=)
|
rs766441395
|
0.00001
|
|
NM_001267550.2(TTN):c.31787T>C (p.Val10596Ala)
|
rs746313065
|
0.00001
|
|
NM_001267550.2(TTN):c.31791T>G (p.Pro10597=)
|
rs397517539
|
0.00001
|
|
NM_001267550.2(TTN):c.31846+14C>T
|
rs775807245
|
0.00001
|
|
NM_001267550.2(TTN):c.31846+17C>T
|
rs900359869
|
0.00001
|
|
NM_001267550.2(TTN):c.31846+20A>G
|
rs886038715
|
0.00001
|
|
NM_001267550.2(TTN):c.318C>T (p.Phe106=)
|
rs1219102157
|
0.00001
|
|
NM_001267550.2(TTN):c.31928-12C>T
|
rs1485950593
|
0.00001
|
|
NM_001267550.2(TTN):c.31941A>G (p.Pro10647=)
|
rs528062079
|
0.00001
|
|
NM_001267550.2(TTN):c.31989A>G (p.Glu10663=)
|
rs1276917315
|
0.00001
|
|
NM_001267550.2(TTN):c.32007A>G (p.Pro10669=)
|
rs878922366
|
0.00001
|
|
NM_001267550.2(TTN):c.32011+15T>G
|
rs886055285
|
0.00001
|
|
NM_001267550.2(TTN):c.32011+1G>T
|
rs1471534246
|
0.00001
|
|
NM_001267550.2(TTN):c.3201T>C (p.Thr1067=)
|
rs876657603
|
0.00001
|
|
NM_001267550.2(TTN):c.32034C>T (p.Pro10678=)
|
rs776436912
|
0.00001
|
|
NM_001267550.2(TTN):c.3205C>G (p.Leu1069Val)
|
rs759873829
|
0.00001
|
|
NM_001267550.2(TTN):c.32096-16T>C
|
rs2071543126
|
0.00001
|
|
NM_001267550.2(TTN):c.32160C>T (p.Phe10720=)
|
rs1020838415
|
0.00001
|
|
NM_001267550.2(TTN):c.32197+10C>T
|
rs748585597
|
0.00001
|
|
NM_001267550.2(TTN):c.32197+18_32197+19del
|
rs758242465
|
0.00001
|
|
NM_001267550.2(TTN):c.32198-9C>A
|
rs555383226
|
0.00001
|
|
NM_001267550.2(TTN):c.32211G>A (p.Glu10737=)
|
rs747597729
|
0.00001
|
|
NM_001267550.2(TTN):c.32311+19C>A
|
rs1232217872
|
0.00001
|
|
NM_001267550.2(TTN):c.32312-15C>T
|
rs772269455
|
0.00001
|
|
NM_001267550.2(TTN):c.32319A>G (p.Glu10773=)
|
rs2070647612
|
0.00001
|
|
NM_001267550.2(TTN):c.32392+1G>A
|
rs1424314036
|
0.00001
|
|
NM_001267550.2(TTN):c.32470+18G>A
|
rs950504813
|
0.00001
|
|
NM_001267550.2(TTN):c.32470G>T (p.Val10824Phe)
|
rs753951400
|
0.00001
|
|
NM_001267550.2(TTN):c.32471-1G>A
|
rs371725574
|
0.00001
|
|
NM_001267550.2(TTN):c.32523T>A (p.Val10841=)
|
rs879077927
|
0.00001
|
|
NM_001267550.2(TTN):c.32555-11T>A
|
rs561016877
|
0.00001
|
|
NM_001267550.2(TTN):c.32555-16C>T
|
rs373769365
|
0.00001
|
|
NM_001267550.2(TTN):c.32555-1G>A
|
rs932486601
|
0.00001
|
|
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter)
|
rs150954246
|
0.00001
|
|
NM_001267550.2(TTN):c.32630C>G (p.Pro10877Arg)
|
rs915579403
|
0.00001
|
|
NM_001267550.2(TTN):c.32638+10C>A
|
rs1179818258
|
0.00001
|
|
NM_001267550.2(TTN):c.32652C>T (p.His10884=)
|
rs369173027
|
0.00001
|
|
NM_001267550.2(TTN):c.326G>A (p.Arg109Gln)
|
rs766434493
|
0.00001
|
|
NM_001267550.2(TTN):c.32781A>T (p.Lys10927Asn)
|
rs1250259159
|
0.00001
|
|
NM_001267550.2(TTN):c.32806+15A>C
|
rs778694891
|
0.00001
|
|
NM_001267550.2(TTN):c.32820A>G (p.Arg10940=)
|
rs1213112359
|
0.00001
|
|
NM_001267550.2(TTN):c.32887+3A>G
|
rs796176592
|
0.00001
|
|
NM_001267550.2(TTN):c.32974T>C (p.Tyr10992His)
|
rs769393540
|
0.00001
|
|
NM_001267550.2(TTN):c.32991T>C (p.Tyr10997=)
|
rs373166071
|
0.00001
|
|
NM_001267550.2(TTN):c.33045C>T (p.Tyr11015=)
|
rs369046627
|
0.00001
|
|
NM_001267550.2(TTN):c.33060T>C (p.Tyr11020=)
|
rs368540797
|
0.00001
|
|
NM_001267550.2(TTN):c.33111C>T (p.Ile11037=)
|
rs374779534
|
0.00001
|
|
NM_001267550.2(TTN):c.33172+3A>G
|
rs2069431645
|
0.00001
|
|
NM_001267550.2(TTN):c.33173-5T>C
|
rs770959595
|
0.00001
|
|
NM_001267550.2(TTN):c.33177G>A (p.Leu11059=)
|
rs749033512
|
0.00001
|
|
NM_001267550.2(TTN):c.33267A>G (p.Lys11089=)
|
rs748320500
|
0.00001
|
|
NM_001267550.2(TTN):c.3327A>G (p.Pro1109=)
|
rs146977732
|
0.00001
|
|
NM_001267550.2(TTN):c.33331G>A (p.Ala11111Thr)
|
rs545067681
|
0.00001
|
|
NM_001267550.2(TTN):c.33340+20C>T
|
rs559573731
|
0.00001
|
|
NM_001267550.2(TTN):c.33366C>T (p.Val11122=)
|
rs878915517
|
0.00001
|
|
NM_001267550.2(TTN):c.33418+1G>A
|
rs746588865
|
0.00001
|
|
NM_001267550.2(TTN):c.33419-2A>C
|
rs756841034
|
0.00001
|
|
NM_001267550.2(TTN):c.33445C>T (p.Pro11149Ser)
|
rs377760800
|
0.00001
|
|
NM_001267550.2(TTN):c.33580G>A (p.Val11194Met)
|
rs778695102
|
0.00001
|
|
NM_001267550.2(TTN):c.33581-8C>G
|
rs888213772
|
0.00001
|
|
NM_001267550.2(TTN):c.33594C>T (p.Pro11198=)
|
rs1553829479
|
0.00001
|
|
NM_001267550.2(TTN):c.33601C>A (p.Pro11201Thr)
|
rs769195017
|
0.00001
|
|
NM_001267550.2(TTN):c.33665-12A>G
|
rs753263373
|
0.00001
|
|
NM_001267550.2(TTN):c.33665-16A>G
|
rs778022540
|
0.00001
|
|
NM_001267550.2(TTN):c.33743-22_33743-14del
|
rs751710802
|
0.00001
|
|
NM_001267550.2(TTN):c.33753G>A (p.Val11251=)
|
rs1366489829
|
0.00001
|
|
NM_001267550.2(TTN):c.33762A>G (p.Lys11254=)
|
rs749466171
|
0.00001
|
|
NM_001267550.2(TTN):c.33780A>G (p.Lys11260=)
|
rs1273345873
|
0.00001
|
|
NM_001267550.2(TTN):c.33788T>C (p.Val11263Ala)
|
rs748148683
|
0.00001
|
|
NM_001267550.2(TTN):c.33792A>G (p.Pro11264=)
|
rs1306394870
|
0.00001
|
|
NM_001267550.2(TTN):c.3386A>G (p.Lys1129Arg)
|
rs181375012
|
0.00001
|
|
NM_001267550.2(TTN):c.33894G>A (p.Glu11298=)
|
rs760806455
|
0.00001
|
|
NM_001267550.2(TTN):c.33903T>C (p.Pro11301=)
|
rs746378140
|
0.00001
|
|
NM_001267550.2(TTN):c.33910+1G>T
|
rs893407745
|
0.00001
|
|
NM_001267550.2(TTN):c.33911-7T>C
|
rs397517545
|
0.00001
|
|
NM_001267550.2(TTN):c.33961G>A (p.Val11321Ile)
|
rs878854298
|
0.00001
|
|
NM_001267550.2(TTN):c.34038T>G (p.Pro11346=)
|
rs375714279
|
0.00001
|
|
NM_001267550.2(TTN):c.34047G>A (p.Glu11349=)
|
rs749215309
|
0.00001
|
|
NM_001267550.2(TTN):c.34056A>G (p.Leu11352=)
|
rs986502331
|
0.00001
|
|
NM_001267550.2(TTN):c.34062A>G (p.Glu11354=)
|
rs886055281
|
0.00001
|
|
NM_001267550.2(TTN):c.3408C>T (p.Thr1136=)
|
rs759010767
|
0.00001
|
|
NM_001267550.2(TTN):c.34200C>T (p.Pro11400=)
|
rs750587024
|
0.00001
|
|
NM_001267550.2(TTN):c.34201G>A (p.Glu11401Lys)
|
rs765827814
|
0.00001
|
|
NM_001267550.2(TTN):c.34238C>G (p.Pro11413Arg)
|
rs769658955
|
0.00001
|
|
NM_001267550.2(TTN):c.34240G>A (p.Glu11414Lys)
|
rs748080418
|
0.00001
|
|
NM_001267550.2(TTN):c.34248A>G (p.Glu11416=)
|
rs780920687
|
0.00001
|
|
NM_001267550.2(TTN):c.34446del (p.Ala11483fs)
|
rs1488354536
|
0.00001
|
|
NM_001267550.2(TTN):c.34453+13C>T
|
rs771926210
|
0.00001
|
|
NM_001267550.2(TTN):c.34454-19T>C
|
rs1158066155
|
0.00001
|
|
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter)
|
rs1441434215
|
0.00001
|
|
NM_001267550.2(TTN):c.34575C>T (p.Ile11525=)
|
rs537187311
|
0.00001
|
|
NM_001267550.2(TTN):c.34581C>G (p.Leu11527=)
|
rs781699559
|
0.00001
|
|
NM_001267550.2(TTN):c.34583C>T (p.Pro11528Leu)
|
rs1553815977
|
0.00001
|
|
NM_001267550.2(TTN):c.34593G>A (p.Glu11531=)
|
rs1487793268
|
0.00001
|
|
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro)
|
rs376836503
|
0.00001
|
|
NM_001267550.2(TTN):c.34612+1G>A
|
rs577363824
|
0.00001
|
|
NM_001267550.2(TTN):c.34612+3A>G
|
rs371880098
|
0.00001
|
|
NM_001267550.2(TTN):c.34613-18A>G
|
rs372828399
|
0.00001
|
|
NM_001267550.2(TTN):c.34670C>T (p.Pro11557Leu)
|
rs887706962
|
0.00001
|
|
NM_001267550.2(TTN):c.34695G>A (p.Val11565=)
|
rs372341590
|
0.00001
|
|
NM_001267550.2(TTN):c.34734A>G (p.Val11578=)
|
rs866407525
|
0.00001
|
|
NM_001267550.2(TTN):c.34767G>A (p.Val11589=)
|
rs750168979
|
0.00001
|
|
NM_001267550.2(TTN):c.34787-16C>T
|
rs191530616
|
0.00001
|
|
NM_001267550.2(TTN):c.34787-4A>C
|
rs745818945
|
0.00001
|
|
NM_001267550.2(TTN):c.34826T>C (p.Val11609Ala)
|
rs767524348
|
0.00001
|
|
NM_001267550.2(TTN):c.34837G>T (p.Glu11613Ter)
|
rs766945794
|
0.00001
|
|
NM_001267550.2(TTN):c.34875A>G (p.Lys11625=)
|
rs989394126
|
0.00001
|
|
NM_001267550.2(TTN):c.34920C>T (p.Pro11640=)
|
rs1302696503
|
0.00001
|
|
NM_001267550.2(TTN):c.34969C>T (p.Arg11657Cys)
|
rs1187808745
|
0.00001
|
|
NM_001267550.2(TTN):c.34980A>G (p.Val11660=)
|
rs770447687
|
0.00001
|
|
NM_001267550.2(TTN):c.35217T>C (p.Ala11739=)
|
rs761811175
|
0.00001
|
|
NM_001267550.2(TTN):c.3524-18G>T
|
rs765793808
|
0.00001
|
|
NM_001267550.2(TTN):c.35265A>G (p.Lys11755=)
|
rs774526152
|
0.00001
|
|
NM_001267550.2(TTN):c.35293G>C (p.Glu11765Gln)
|
rs1060500577
|
0.00001
|
|
NM_001267550.2(TTN):c.35294A>G (p.Glu11765Gly)
|
rs1319484684
|
0.00001
|
|
NM_001267550.2(TTN):c.35301A>C (p.Pro11767=)
|
rs1167615792
|
0.00001
|
|
NM_001267550.2(TTN):c.35319G>A (p.Val11773=)
|
rs879029141
|
0.00001
|
|
NM_001267550.2(TTN):c.35517T>C (p.Ile11839=)
|
rs1352240541
|
0.00001
|
|
NM_001267550.2(TTN):c.35629+3A>G
|
rs751928755
|
0.00001
|
|
NM_001267550.2(TTN):c.35630-18A>G
|
rs745840024
|
0.00001
|
|
NM_001267550.2(TTN):c.35678C>G (p.Thr11893Ser)
|
rs750832804
|
0.00001
|
|
NM_001267550.2(TTN):c.3570G>A (p.Gln1190=)
|
rs2092636085
|
0.00001
|
|
NM_001267550.2(TTN):c.35784T>C (p.His11928=)
|
rs757611872
|
0.00001
|
|
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
|
rs878854299
|
0.00001
|
|
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs)
|
rs765879488
|
0.00001
|
|
NM_001267550.2(TTN):c.35876-5T>C
|
rs1388929614
|
0.00001
|
|
NM_001267550.2(TTN):c.35960-10A>G
|
rs751187310
|
0.00001
|
|
NM_001267550.2(TTN):c.36009T>C (p.Asp12003=)
|
rs1471754400
|
0.00001
|
|
NM_001267550.2(TTN):c.36043+6T>C
|
rs765412168
|
0.00001
|
|
NM_001267550.2(TTN):c.36044-19A>G
|
rs1429180982
|
0.00001
|
|
NM_001267550.2(TTN):c.36045G>A (p.Thr12015=)
|
rs1209026573
|
0.00001
|
|
NM_001267550.2(TTN):c.36048C>T (p.Pro12016=)
|
rs767784967
|
0.00001
|
|
NM_001267550.2(TTN):c.36069T>C (p.Ile12023=)
|
rs766345490
|
0.00001
|
|
NM_001267550.2(TTN):c.36119-17C>T
|
rs762927607
|
0.00001
|
|
NM_001267550.2(TTN):c.3611A>C (p.Glu1204Ala)
|
rs779302369
|
0.00001
|
|
NM_001267550.2(TTN):c.3616G>T (p.Ala1206Ser)
|
rs200749662
|
0.00001
|
|
NM_001267550.2(TTN):c.36183T>G (p.Pro12061=)
|
rs879036307
|
0.00001
|
|
NM_001267550.2(TTN):c.36219A>G (p.Arg12073=)
|
rs981885157
|
0.00001
|
|
NM_001267550.2(TTN):c.36291T>C (p.Ala12097=)
|
rs773466657
|
0.00001
|
|
NM_001267550.2(TTN):c.36322T>A (p.Ser12108Thr)
|
rs989137248
|
0.00001
|
|
NM_001267550.2(TTN):c.36324G>A (p.Ser12108=)
|
rs549147739
|
0.00001
|
|
NM_001267550.2(TTN):c.36354A>G (p.Pro12118=)
|
rs762147105
|
0.00001
|
|
NM_001267550.2(TTN):c.36364+13G>A
|
rs768823809
|
0.00001
|
|
NM_001267550.2(TTN):c.36365-7T>C
|
rs746341489
|
0.00001
|
|
NM_001267550.2(TTN):c.36393C>T (p.Arg12131=)
|
rs555029471
|
0.00001
|
|
NM_001267550.2(TTN):c.36414T>G (p.Ala12138=)
|
rs2065275692
|
0.00001
|
|
NM_001267550.2(TTN):c.36448+2T>C
|
rs1426178024
|
0.00001
|
|
NM_001267550.2(TTN):c.36449-9T>A
|
rs755846036
|
0.00001
|
|
NM_001267550.2(TTN):c.36468A>G (p.Glu12156=)
|
rs1476672296
|
0.00001
|
|
NM_001267550.2(TTN):c.36532G>A (p.Val12178Met)
|
rs1664222065
|
0.00001
|
|
NM_001267550.2(TTN):c.36568A>G (p.Lys12190Glu)
|
rs749339946
|
0.00001
|
|
NM_001267550.2(TTN):c.36616+9C>T
|
rs755437299
|
0.00001
|
|
NM_001267550.2(TTN):c.36621A>G (p.Pro12207=)
|
rs770052452
|
0.00001
|
|
NM_001267550.2(TTN):c.36675C>A (p.Pro12225=)
|
rs763562866
|
0.00001
|
|
NM_001267550.2(TTN):c.36864A>G (p.Pro12288=)
|
rs1330227422
|
0.00001
|
|
NM_001267550.2(TTN):c.36888T>C (p.Ala12296=)
|
rs1314345123
|
0.00001
|
|
NM_001267550.2(TTN):c.37002G>A (p.Val12334=)
|
rs1294867347
|
0.00001
|
|
NM_001267550.2(TTN):c.37202-9T>C
|
rs771757256
|
0.00001
|
|
NM_001267550.2(TTN):c.37208A>C (p.Glu12403Ala)
|
rs878854301
|
0.00001
|
|
NM_001267550.2(TTN):c.37285+7G>C
|
rs1442875884
|
0.00001
|
|
NM_001267550.2(TTN):c.3729+13G>T
|
rs2092620003
|
0.00001
|
|
NM_001267550.2(TTN):c.3729+4A>G
|
rs1170576212
|
0.00001
|
|
NM_001267550.2(TTN):c.3729+7A>G
|
rs377161059
|
0.00001
|
|
NM_001267550.2(TTN):c.37837G>A (p.Ala12613Thr)
|
rs1378663473
|
0.00001
|
|
NM_001267550.2(TTN):c.38002A>G (p.Thr12668Ala)
|
rs1168512202
|
0.00001
|
|
NM_001267550.2(TTN):c.38042C>T (p.Pro12681Leu)
|
rs1553777756
|
0.00001
|
|
NM_001267550.2(TTN):c.3810T>C (p.Leu1270=)
|
rs878883624
|
0.00001
|
|
NM_001267550.2(TTN):c.38283T>C (p.Ala12761=)
|
rs1476437470
|
0.00001
|
|
NM_001267550.2(TTN):c.38316A>C (p.Glu12772Asp)
|
rs1195550297
|
0.00001
|
|
NM_001267550.2(TTN):c.38353A>G (p.Lys12785Glu)
|
rs864622709
|
0.00001
|
|
NM_001267550.2(TTN):c.38454C>T (p.Pro12818=)
|
rs2063594484
|
0.00001
|
|
NM_001267550.2(TTN):c.38465-5T>A
|
rs906108078
|
0.00001
|
|
NM_001267550.2(TTN):c.38707+9C>T
|
rs767962796
|
0.00001
|
|
NM_001267550.2(TTN):c.38739A>G (p.Glu12913=)
|
rs759128215
|
0.00001
|
|
NM_001267550.2(TTN):c.3876A>G (p.Gly1292=)
|
rs755784209
|
0.00001
|
|
NM_001267550.2(TTN):c.38792-2A>T
|
rs1185808525
|
0.00001
|
|
NM_001267550.2(TTN):c.38792-9T>C
|
rs760780759
|
0.00001
|
|
NM_001267550.2(TTN):c.38811A>G (p.Glu12937=)
|
rs1433184470
|
0.00001
|
|
NM_001267550.2(TTN):c.38838G>A (p.Val12946=)
|
rs1309055884
|
0.00001
|
|
NM_001267550.2(TTN):c.38979G>A (p.Glu12993=)
|
rs1462432373
|
0.00001
|
|
NM_001267550.2(TTN):c.38985T>C (p.Val12995=)
|
rs753883402
|
0.00001
|
|
NM_001267550.2(TTN):c.39001C>A (p.Pro13001Thr)
|
rs878854302
|
0.00001
|
|
NM_001267550.2(TTN):c.39033A>T (p.Pro13011=)
|
rs768321493
|
0.00001
|
|
NM_001267550.2(TTN):c.39044-14T>C
|
rs1177294449
|
0.00001
|
|
NM_001267550.2(TTN):c.39044-15C>T
|
rs749495580
|
0.00001
|
|
NM_001267550.2(TTN):c.39044-16A>G
|
rs2063227601
|
0.00001
|
|
NM_001267550.2(TTN):c.39089C>T (p.Ala13030Val)
|
rs747459623
|
0.00001
|
|
NM_001267550.2(TTN):c.39120T>C (p.Pro13040=)
|
rs1157304666
|
0.00001
|
|
NM_001267550.2(TTN):c.39127+7G>C
|
rs981353612
|
0.00001
|
|
NM_001267550.2(TTN):c.39128-16A>G
|
rs769738352
|
0.00001
|
|
NM_001267550.2(TTN):c.39195A>G (p.Glu13065=)
|
rs1004354766
|
0.00001
|
|
NM_001267550.2(TTN):c.39211+10C>G
|
rs1264648666
|
0.00001
|
|
NM_001267550.2(TTN):c.39211+13A>T
|
rs756966122
|
0.00001
|
|
NM_001267550.2(TTN):c.39211+16G>T
|
rs753691920
|
0.00001
|
|
NM_001267550.2(TTN):c.39219G>A (p.Glu13073=)
|
rs777607934
|
0.00001
|
|
NM_001267550.2(TTN):c.39282T>C (p.Ser13094=)
|
rs773883685
|
0.00001
|
|
NM_001267550.2(TTN):c.39295+12A>G
|
rs375770526
|
0.00001
|
|
NM_001267550.2(TTN):c.39295G>A (p.Val13099Met)
|
rs1394450889
|
0.00001
|
|
NM_001267550.2(TTN):c.39296-4A>G
|
rs368641171
|
0.00001
|
|
NM_001267550.2(TTN):c.39300C>T (p.Phe13100=)
|
rs569579388
|
0.00001
|
|
NM_001267550.2(TTN):c.39375A>G (p.Pro13125=)
|
rs566794300
|
0.00001
|
|
NM_001267550.2(TTN):c.39384C>T (p.Thr13128=)
|
rs746067865
|
0.00001
|
|
NM_001267550.2(TTN):c.39418G>A (p.Ala13140Thr)
|
rs781407045
|
0.00001
|
|
NM_001267550.2(TTN):c.39463+10A>C
|
rs1161477164
|
0.00001
|
|
NM_001267550.2(TTN):c.39464-4A>T
|
rs960737707
|
0.00001
|
|
NM_001267550.2(TTN):c.39465G>A (p.Val13155=)
|
rs886055279
|
0.00001
|
|
NM_001267550.2(TTN):c.39468C>T (p.Pro13156=)
|
rs1367382367
|
0.00001
|
|
NM_001267550.2(TTN):c.39547+1G>A
|
rs1335572575
|
0.00001
|
|
NM_001267550.2(TTN):c.39548-9T>C
|
rs1437594941
|
0.00001
|
|
NM_001267550.2(TTN):c.39588A>C (p.Val13196=)
|
rs754072702
|
0.00001
|
|
NM_001267550.2(TTN):c.39597C>A (p.Pro13199=)
|
rs776088323
|
0.00001
|
|
NM_001267550.2(TTN):c.3960A>G (p.Pro1320=)
|
rs1258234358
|
0.00001
|
|
NM_001267550.2(TTN):c.3963+8A>G
|
rs746377261
|
0.00001
|
|
NM_001267550.2(TTN):c.3964-20A>G
|
rs1351703825
|
0.00001
|
|
NM_001267550.2(TTN):c.39651C>T (p.Val13217=)
|
rs367566815
|
0.00001
|
|
NM_001267550.2(TTN):c.39709+3A>G
|
rs543584748
|
0.00001
|
|
NM_001267550.2(TTN):c.39709+7G>A
|
rs750763722
|
0.00001
|
|
NM_001267550.2(TTN):c.39710-15C>T
|
rs1057522986
|
0.00001
|
|
NM_001267550.2(TTN):c.39714T>C (p.Tyr13238=)
|
rs755047442
|
0.00001
|
|
NM_001267550.2(TTN):c.39818-18A>G
|
rs2062665643
|
0.00001
|
|
NM_001267550.2(TTN):c.39818-4C>T
|
rs754585674
|
0.00001
|
|
NM_001267550.2(TTN):c.39851A>G (p.Lys13284Arg)
|
rs768562722
|
0.00001
|
|
NM_001267550.2(TTN):c.3987G>A (p.Lys1329=)
|
rs1554012145
|
0.00001
|
|
NM_001267550.2(TTN):c.39883C>A (p.Pro13295Thr)
|
rs749860520
|
0.00001
|
|
NM_001267550.2(TTN):c.39919G>T (p.Val13307Phe)
|
rs553280930
|
0.00001
|
|
NM_001267550.2(TTN):c.39936C>T (p.Val13312=)
|
rs1259485774
|
0.00001
|
|
NM_001267550.2(TTN):c.39973+14C>T
|
rs995670788
|
0.00001
|
|
NM_001267550.2(TTN):c.39974-10A>G
|
rs2062544616
|
0.00001
|
|
NM_001267550.2(TTN):c.40057+18A>G
|
rs991784419
|
0.00001
|
|
NM_001267550.2(TTN):c.40083C>T (p.Ile13361=)
|
rs1039448666
|
0.00001
|
|
NM_001267550.2(TTN):c.40098G>A (p.Val13366=)
|
rs1199008054
|
0.00001
|
|
NM_001267550.2(TTN):c.40126G>A (p.Val13376Ile)
|
rs1060500428
|
0.00001
|
|
NM_001267550.2(TTN):c.40141+20A>T
|
rs1467474717
|
0.00001
|
|
NM_001267550.2(TTN):c.40222+6T>C
|
rs1182693405
|
0.00001
|
|
NM_001267550.2(TTN):c.40248A>G (p.Lys13416=)
|
rs756681989
|
0.00001
|
|
NM_001267550.2(TTN):c.40260C>T (p.Pro13420=)
|
rs968375522
|
0.00001
|
|
NM_001267550.2(TTN):c.40266T>C (p.Pro13422=)
|
rs914232072
|
0.00001
|
|
NM_001267550.2(TTN):c.40298-20C>A
|
rs762315483
|
0.00001
|
|
NM_001267550.2(TTN):c.40298-9T>C
|
rs771273171
|
0.00001
|
|
NM_001267550.2(TTN):c.40349C>T (p.Pro13450Leu)
|
rs372424006
|
0.00001
|
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
|
NM_001267550.2(TTN):c.40409-14C>T
|
rs764664868
|
0.00001
|
|
NM_001267550.2(TTN):c.40409-3A>C
|
rs1269069315
|
0.00001
|
|
NM_001267550.2(TTN):c.40558+13T>C
|
rs1277099678
|
0.00001
|
|
NM_001267550.2(TTN):c.40558+4T>C
|
rs398124451
|
0.00001
|
|
NM_001267550.2(TTN):c.40558G>A (p.Val13520Ile)
|
rs587780488
|
0.00001
|
|
NM_001267550.2(TTN):c.40572A>G (p.Arg13524=)
|
rs1360957975
|
0.00001
|
|
NM_001267550.2(TTN):c.40595T>G (p.Val13532Gly)
|
rs756446770
|
0.00001
|
|
NM_001267550.2(TTN):c.40634-1G>A
|
rs749062863
|
0.00001
|
|
NM_001267550.2(TTN):c.40690A>G (p.Lys13564Glu)
|
rs758942655
|
0.00001
|
|
NM_001267550.2(TTN):c.40701G>A (p.Arg13567=)
|
rs750761966
|
0.00001
|
|
NM_001267550.2(TTN):c.40719A>C (p.Thr13573=)
|
rs765647260
|
0.00001
|
|
NM_001267550.2(TTN):c.40723+14G>A
|
rs1311706210
|
0.00001
|
|
NM_001267550.2(TTN):c.40723+3A>G
|
rs1468033868
|
0.00001
|
|
NM_001267550.2(TTN):c.40766C>T (p.Pro13589Leu)
|
rs200939270
|
0.00001
|
|
NM_001267550.2(TTN):c.40767G>A (p.Pro13589=)
|
rs533071976
|
0.00001
|
|
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly)
|
rs370978752
|
0.00001
|
|
NM_001267550.2(TTN):c.40779C>T (p.Pro13593=)
|
rs751103309
|
0.00001
|
|
NM_001267550.2(TTN):c.40786+3G>A
|
rs551963261
|
0.00001
|
|
NM_001267550.2(TTN):c.40800C>A (p.Ile13600=)
|
rs879111430
|
0.00001
|
|
NM_001267550.2(TTN):c.40836C>T (p.Ile13612=)
|
rs1178914442
|
0.00001
|
|
NM_001267550.2(TTN):c.40877-3C>A
|
rs746615904
|
0.00001
|
|
NM_001267550.2(TTN):c.40877-7A>G
|
rs727505201
|
0.00001
|
|
NM_001267550.2(TTN):c.40927+11T>C
|
rs373086667
|
0.00001
|
|
NM_001267550.2(TTN):c.40927+12T>C
|
rs753719588
|
0.00001
|
|
NM_001267550.2(TTN):c.40928-15T>C
|
rs766374526
|
0.00001
|
|
NM_001267550.2(TTN):c.40928-7G>A
|
rs1337688234
|
0.00001
|
|
NM_001267550.2(TTN):c.40946C>T (p.Pro13649Leu)
|
rs771839127
|
0.00001
|
|
NM_001267550.2(TTN):c.40962C>T (p.Ala13654=)
|
rs917199946
|
0.00001
|
|
NM_001267550.2(TTN):c.40971A>G (p.Arg13657=)
|
rs749200605
|
0.00001
|
|
NM_001267550.2(TTN):c.40983A>G (p.Pro13661=)
|
rs1057338570
|
0.00001
|
|
NM_001267550.2(TTN):c.40988G>A (p.Ser13663Asn)
|
rs1060500537
|
0.00001
|
|
NM_001267550.2(TTN):c.4098C>T (p.Ala1366=)
|
rs760223250
|
0.00001
|
|
NM_001267550.2(TTN):c.41007T>C (p.Pro13669=)
|
rs762979127
|
0.00001
|
|
NM_001267550.2(TTN):c.41049G>C (p.Leu13683=)
|
rs267599052
|
0.00001
|
|
NM_001267550.2(TTN):c.41097C>T (p.Phe13699=)
|
rs377131448
|
0.00001
|
|
NM_001267550.2(TTN):c.41104T>C (p.Ser13702Pro)
|
rs72650078
|
0.00001
|
|
NM_001267550.2(TTN):c.4110A>G (p.Lys1370=)
|
rs1554011877
|
0.00001
|
|
NM_001267550.2(TTN):c.41146A>G (p.Ile13716Val)
|
rs531807386
|
0.00001
|
|
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His)
|
rs750520224
|
0.00001
|
|
NM_001267550.2(TTN):c.41229G>A (p.Leu13743=)
|
rs1022741837
|
0.00001
|
|
NM_001267550.2(TTN):c.4131G>A (p.Gly1377=)
|
rs777874876
|
0.00001
|
|
NM_001267550.2(TTN):c.41329+16C>G
|
rs1262293420
|
0.00001
|
|
NM_001267550.2(TTN):c.41342G>A (p.Arg13781His)
|
rs370878642
|
0.00001
|
|
NM_001267550.2(TTN):c.41412A>G (p.Leu13804=)
|
rs72650079
|
0.00001
|
|
NM_001267550.2(TTN):c.41490C>T (p.Val13830=)
|
rs397517564
|
0.00001
|
|
NM_001267550.2(TTN):c.41509C>T (p.Leu13837=)
|
rs372558001
|
0.00001
|
|
NM_001267550.2(TTN):c.41514C>A (p.Thr13838=)
|
rs369348617
|
0.00001
|
|
NM_001267550.2(TTN):c.41540C>T (p.Ala13847Val)
|
rs1439068447
|
0.00001
|
|
NM_001267550.2(TTN):c.41568C>T (p.Asn13856=)
|
rs559906667
|
0.00001
|
|
NM_001267550.2(TTN):c.41571C>A (p.Ala13857=)
|
rs1357782277
|
0.00001
|
|
NM_001267550.2(TTN):c.41609-6A>G
|
rs754210075
|
0.00001
|
|
NM_001267550.2(TTN):c.41620G>A (p.Asp13874Asn)
|
rs770045249
|
0.00001
|
|
NM_001267550.2(TTN):c.41628G>A (p.Leu13876=)
|
rs1447734949
|
0.00001
|
|
NM_001267550.2(TTN):c.4169C>T (p.Pro1390Leu)
|
rs144011561
|
0.00001
|
|
NM_001267550.2(TTN):c.4170G>A (p.Pro1390=)
|
rs369005241
|
0.00001
|
|
NM_001267550.2(TTN):c.41745G>A (p.Ala13915=)
|
rs780790022
|
0.00001
|
|
NM_001267550.2(TTN):c.41778T>C (p.Asp13926=)
|
rs766397292
|
0.00001
|
|
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val)
|
rs545806408
|
0.00001
|
|
NM_001267550.2(TTN):c.41817A>G (p.Pro13939=)
|
rs532478704
|
0.00001
|
|
NM_001267550.2(TTN):c.41884+14C>A
|
rs376264278
|
0.00001
|
|
NM_001267550.2(TTN):c.41884+8A>T
|
rs2060322472
|
0.00001
|
|
NM_001267550.2(TTN):c.41888G>A (p.Arg13963His)
|
rs540582993
|
0.00001
|
|
NM_001267550.2(TTN):c.4188A>G (p.Leu1396=)
|
rs192329423
|
0.00001
|
|
NM_001267550.2(TTN):c.41894T>G (p.Val13965Gly)
|
rs878854306
|
0.00001
|
|
NM_001267550.2(TTN):c.4197G>C (p.Val1399=)
|
rs770601569
|
0.00001
|
|
NM_001267550.2(TTN):c.42025-19T>C
|
rs372105151
|
0.00001
|
|
NM_001267550.2(TTN):c.42056G>A (p.Arg14019His)
|
rs374683153
|
0.00001
|
|
NM_001267550.2(TTN):c.4209-16T>C
|
rs1285849113
|
0.00001
|
|
NM_001267550.2(TTN):c.4209-17G>A
|
rs373298221
|
0.00001
|
|
NM_001267550.2(TTN):c.4209-7T>A
|
rs1019967674
|
0.00001
|
|
NM_001267550.2(TTN):c.42108C>T (p.Tyr14036=)
|
rs1311474144
|
0.00001
|
|
NM_001267550.2(TTN):c.4212T>A (p.Ser1404=)
|
rs879245687
|
0.00001
|
|
NM_001267550.2(TTN):c.42151+20T>C
|
rs529796220
|
0.00001
|
|
NM_001267550.2(TTN):c.42177C>T (p.Pro14059=)
|
rs2060189688
|
0.00001
|
|
NM_001267550.2(TTN):c.42214C>T (p.Arg14072Ter)
|
rs794729258
|
0.00001
|
|
NM_001267550.2(TTN):c.42270T>C (p.Asp14090=)
|
rs753099769
|
0.00001
|
|
NM_001267550.2(TTN):c.42330T>C (p.Val14110=)
|
rs779075153
|
0.00001
|
|
NM_001267550.2(TTN):c.42401G>A (p.Arg14134Gln)
|
rs764083952
|
0.00001
|
|
NM_001267550.2(TTN):c.42416-8C>T
|
rs756921395
|
0.00001
|
|
NM_001267550.2(TTN):c.42486T>C (p.Val14162=)
|
rs763151045
|
0.00001
|
|
NM_001267550.2(TTN):c.42552C>T (p.Ser14184=)
|
rs373503028
|
0.00001
|
|
NM_001267550.2(TTN):c.42561A>C (p.Val14187=)
|
rs1057521315
|
0.00001
|
|
NM_001267550.2(TTN):c.42612A>G (p.Thr14204=)
|
rs374805748
|
0.00001
|
|
NM_001267550.2(TTN):c.42618T>C (p.Asp14206=)
|
rs775862579
|
0.00001
|
|
NM_001267550.2(TTN):c.42682+11C>A
|
rs908586161
|
0.00001
|
|
NM_001267550.2(TTN):c.42684G>A (p.Glu14228=)
|
rs975916529
|
0.00001
|
|
NM_001267550.2(TTN):c.42750G>A (p.Leu14250=)
|
rs1273953637
|
0.00001
|
|
NM_001267550.2(TTN):c.42764G>A (p.Ser14255Asn)
|
rs368433387
|
0.00001
|
|
NM_001267550.2(TTN):c.42769G>A (p.Asp14257Asn)
|
rs746571349
|
0.00001
|
|
NM_001267550.2(TTN):c.42771T>C (p.Asp14257=)
|
rs903523837
|
0.00001
|
|
NM_001267550.2(TTN):c.42807T>C (p.Ile14269=)
|
rs778681091
|
0.00001
|
|
NM_001267550.2(TTN):c.42829A>T (p.Ile14277Phe)
|
rs397517568
|
0.00001
|
|
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu)
|
rs760643071
|
0.00001
|
|
NM_001267550.2(TTN):c.42900G>A (p.Val14300=)
|
rs753676165
|
0.00001
|
|
NM_001267550.2(TTN):c.42918C>T (p.Asp14306=)
|
rs537375897
|
0.00001
|
|
NM_001267550.2(TTN):c.42946+13A>C
|
rs889524370
|
0.00001
|
|
NM_001267550.2(TTN):c.42946+3G>A
|
rs763647141
|
0.00001
|
|
NM_001267550.2(TTN):c.42973C>T (p.Leu14325=)
|
rs775242938
|
0.00001
|
|
NM_001267550.2(TTN):c.42C>T (p.Ser14=)
|
rs925948430
|
0.00001
|
|
NM_001267550.2(TTN):c.43086+7C>G
|
rs1378945842
|
0.00001
|
|
NM_001267550.2(TTN):c.43087-15C>G
|
rs1409692632
|
0.00001
|
|
NM_001267550.2(TTN):c.43087-20C>T
|
rs1371436719
|
0.00001
|
|
NM_001267550.2(TTN):c.4309A>G (p.Met1437Val)
|
rs758098952
|
0.00001
|
|
NM_001267550.2(TTN):c.43100T>C (p.Ile14367Thr)
|
rs397517572
|
0.00001
|
|
NM_001267550.2(TTN):c.43146G>A (p.Leu14382=)
|
rs751236287
|
0.00001
|
|
NM_001267550.2(TTN):c.4314C>T (p.Ser1438=)
|
rs764817754
|
0.00001
|
|
NM_001267550.2(TTN):c.43185C>A (p.Ala14395=)
|
rs1057519234
|
0.00001
|
|
NM_001267550.2(TTN):c.43214-17C>T
|
rs1055328840
|
0.00001
|
|
NM_001267550.2(TTN):c.43233C>T (p.Ile14411=)
|
rs1167964024
|
0.00001
|
|
NM_001267550.2(TTN):c.43249G>A (p.Val14417Ile)
|
rs906675886
|
0.00001
|
|
NM_001267550.2(TTN):c.43281T>C (p.Phe14427=)
|
rs368161055
|
0.00001
|
|
NM_001267550.2(TTN):c.43305C>G (p.Pro14435=)
|
rs1001947652
|
0.00001
|
|
NM_001267550.2(TTN):c.43374T>C (p.Asp14458=)
|
rs1407605671
|
0.00001
|
|
NM_001267550.2(TTN):c.43480+3A>T
|
rs1471215133
|
0.00001
|
|
NM_001267550.2(TTN):c.43480+8G>A
|
rs1267914380
|
0.00001
|
|
NM_001267550.2(TTN):c.43481-6T>G
|
rs779911447
|
0.00001
|
|
NM_001267550.2(TTN):c.43521T>C (p.Thr14507=)
|
rs762655778
|
0.00001
|
|
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg)
|
rs374085402
|
0.00001
|
|
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter)
|
rs727504499
|
0.00001
|
|
NM_001267550.2(TTN):c.43623G>A (p.Ser14541=)
|
rs369434563
|
0.00001
|
|
NM_001267550.2(TTN):c.43669G>A (p.Asp14557Asn)
|
rs794729431
|
0.00001
|
|
NM_001267550.2(TTN):c.43704A>G (p.Val14568=)
|
rs368783829
|
0.00001
|
|
NM_001267550.2(TTN):c.43717A>G (p.Met14573Val)
|
rs755610701
|
0.00001
|
|
NM_001267550.2(TTN):c.43748-7C>T
|
rs771927358
|
0.00001
|
|
NM_001267550.2(TTN):c.43755C>T (p.Asp14585=)
|
rs759486529
|
0.00001
|
|
NM_001267550.2(TTN):c.43813C>T (p.Leu14605=)
|
rs1251970273
|
0.00001
|
|
NM_001267550.2(TTN):c.43836A>G (p.Ala14612=)
|
rs755492644
|
0.00001
|
|
NM_001267550.2(TTN):c.43861G>A (p.Asp14621Asn)
|
rs374032491
|
0.00001
|
|
NM_001267550.2(TTN):c.43866G>A (p.Gly14622=)
|
rs988374698
|
0.00001
|
|
NM_001267550.2(TTN):c.43869G>A (p.Lys14623=)
|
rs957181917
|
0.00001
|
|
NM_001267550.2(TTN):c.43955T>C (p.Ile14652Thr)
|
rs767038885
|
0.00001
|
|
NM_001267550.2(TTN):c.44014G>A (p.Asp14672Asn)
|
rs1339350914
|
0.00001
|
|
NM_001267550.2(TTN):c.44017C>G (p.Arg14673Gly)
|
rs773004022
|
0.00001
|
|
NM_001267550.2(TTN):c.44076A>T (p.Ala14692=)
|
rs535734890
|
0.00001
|
|
NM_001267550.2(TTN):c.44112C>T (p.His14704=)
|
rs754693395
|
0.00001
|
|
NM_001267550.2(TTN):c.44154+6G>T
|
rs794729234
|
0.00001
|
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
|
NM_001267550.2(TTN):c.44281+14A>G
|
rs745533972
|
0.00001
|
|
NM_001267550.2(TTN):c.44284C>A (p.Arg14762=)
|
rs770767998
|
0.00001
|
|
NM_001267550.2(TTN):c.44285G>A (p.Arg14762Gln)
|
rs727505019
|
0.00001
|
|
NM_001267550.2(TTN):c.44322C>A (p.Thr14774=)
|
rs573695669
|
0.00001
|
|
NM_001267550.2(TTN):c.44376C>T (p.Ile14792=)
|
rs564820606
|
0.00001
|
|
NM_001267550.2(TTN):c.44419G>A (p.Asp14807Asn)
|
rs753053245
|
0.00001
|
|
NM_001267550.2(TTN):c.44424+12G>A
|
rs764849555
|
0.00001
|
|
NM_001267550.2(TTN):c.44425-7del
|
rs768236919
|
0.00001
|
|
NM_001267550.2(TTN):c.44425G>A (p.Val14809Met)
|
rs775225695
|
0.00001
|
|
NM_001267550.2(TTN):c.44469G>A (p.Arg14823=)
|
rs267599051
|
0.00001
|
|
NM_001267550.2(TTN):c.44511A>G (p.Ala14837=)
|
rs1205699868
|
0.00001
|
|
NM_001267550.2(TTN):c.4452T>C (p.Pro1484=)
|
rs727503695
|
0.00001
|
|
NM_001267550.2(TTN):c.4453A>G (p.Met1485Val)
|
rs753632784
|
0.00001
|
|
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)
|
rs144848584
|
0.00001
|
|
NM_001267550.2(TTN):c.44667G>C (p.Gly14889=)
|
rs746287950
|
0.00001
|
|
NM_001267550.2(TTN):c.44676C>A (p.Ile14892=)
|
rs373500703
|
0.00001
|
|
NM_001267550.2(TTN):c.44679C>T (p.Leu14893=)
|
rs1438608061
|
0.00001
|
|
NM_001267550.2(TTN):c.44706T>C (p.Ala14902=)
|
rs766958603
|
0.00001
|
|
NM_001267550.2(TTN):c.44775T>C (p.Asp14925=)
|
rs879210476
|
0.00001
|
|
NM_001267550.2(TTN):c.44778T>A (p.Ala14926=)
|
rs369800238
|
0.00001
|
|
NM_001267550.2(TTN):c.4480G>A (p.Gly1494Ser)
|
rs774506028
|
0.00001
|
|
NM_001267550.2(TTN):c.4481-17T>C
|
rs1298684196
|
0.00001
|
|
NM_001267550.2(TTN):c.44811C>T (p.Val14937=)
|
rs753145038
|
0.00001
|
|
NM_001267550.2(TTN):c.44815+7A>G
|
rs758417150
|
0.00001
|
|
NM_001267550.2(TTN):c.44816-1G>A
|
rs749705939
|
0.00001
|
|
NM_001267550.2(TTN):c.44816-7C>T
|
rs539123756
|
0.00001
|
|
NM_001267550.2(TTN):c.44833T>C (p.Leu14945=)
|
rs746441554
|
0.00001
|
|
NM_001267550.2(TTN):c.44847C>T (p.Thr14949=)
|
rs374213553
|
0.00001
|
|
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)
|
rs727505350
|
0.00001
|
|
NM_001267550.2(TTN):c.44914-19C>A
|
rs771681725
|
0.00001
|
|
NM_001267550.2(TTN):c.44961T>C (p.Tyr14987=)
|
rs977583042
|
0.00001
|
|
NM_001267550.2(TTN):c.44998A>G (p.Ile15000Val)
|
rs775264673
|
0.00001
|
|
NM_001267550.2(TTN):c.45198G>A (p.Gly15066=)
|
rs547564837
|
0.00001
|
|
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)
|
rs397517580
|
0.00001
|
|
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter)
|
rs1060500405
|
0.00001
|
|
NM_001267550.2(TTN):c.45327C>T (p.Thr15109=)
|
rs376143828
|
0.00001
|
|
NM_001267550.2(TTN):c.45350-11T>C
|
rs940979956
|
0.00001
|
|
NM_001267550.2(TTN):c.45505G>A (p.Ala15169Thr)
|
rs759247684
|
0.00001
|
|
NM_001267550.2(TTN):c.45546A>G (p.Thr15182=)
|
rs1553717666
|
0.00001
|
|
NM_001267550.2(TTN):c.45582G>A (p.Gly15194=)
|
rs1576555318
|
0.00001
|
|
NM_001267550.2(TTN):c.45585C>T (p.Ala15195=)
|
rs780415755
|
0.00001
|
|
NM_001267550.2(TTN):c.45588C>A (p.Ala15196=)
|
rs2058208982
|
0.00001
|
|
NM_001267550.2(TTN):c.45589A>G (p.Arg15197Gly)
|
rs748906368
|
0.00001
|
|
NM_001267550.2(TTN):c.4558G>A (p.Ala1520Thr)
|
rs1060500440
|
0.00001
|
|
NM_001267550.2(TTN):c.45616+16C>T
|
rs556605702
|
0.00001
|
|
NM_001267550.2(TTN):c.45616+1G>C
|
rs1395648308
|
0.00001
|
|
NM_001267550.2(TTN):c.45617-10T>C
|
rs1210014059
|
0.00001
|
|
NM_001267550.2(TTN):c.45630C>T (p.Ile15210=)
|
rs534018757
|
0.00001
|
|
NM_001267550.2(TTN):c.45759C>T (p.Tyr15253=)
|
rs760747130
|
0.00001
|
|
NM_001267550.2(TTN):c.45786C>T (p.Tyr15262=)
|
rs532009022
|
0.00001
|
|
NM_001267550.2(TTN):c.45831T>C (p.Tyr15277=)
|
rs369117788
|
0.00001
|
|
NM_001267550.2(TTN):c.45916G>A (p.Glu15306Lys)
|
rs774339883
|
0.00001
|
|
NM_001267550.2(TTN):c.45945G>A (p.Glu15315=)
|
rs774122600
|
0.00001
|
|
NM_001267550.2(TTN):c.45993A>T (p.Thr15331=)
|
rs749043725
|
0.00001
|
|
NM_001267550.2(TTN):c.45T>C (p.Val15=)
|
rs371454228
|
0.00001
|
|
NM_001267550.2(TTN):c.46134T>C (p.Asp15378=)
|
rs754636426
|
0.00001
|
|
NM_001267550.2(TTN):c.46146T>C (p.Ala15382=)
|
rs762544602
|
0.00001
|
|
NM_001267550.2(TTN):c.46160T>C (p.Ile15387Thr)
|
rs397517585
|
0.00001
|
|
NM_001267550.2(TTN):c.46169C>T (p.Pro15390Leu)
|
rs879113967
|
0.00001
|
|
NM_001267550.2(TTN):c.4617T>G (p.Ser1539=)
|
rs2092352736
|
0.00001
|
|
NM_001267550.2(TTN):c.46218T>C (p.Asp15406=)
|
rs757897449
|
0.00001
|
|
NM_001267550.2(TTN):c.46263A>T (p.Val15421=)
|
rs1348609321
|
0.00001
|
|
NM_001267550.2(TTN):c.46353T>C (p.Asp15451=)
|
rs373160538
|
0.00001
|
|
NM_001267550.2(TTN):c.46369G>A (p.Glu15457Lys)
|
rs753664074
|
0.00001
|
|
NM_001267550.2(TTN):c.46371G>C (p.Glu15457Asp)
|
rs764100235
|
0.00001
|
|
NM_001267550.2(TTN):c.46399A>C (p.Arg15467=)
|
rs1213528986
|
0.00001
|
|
NM_001267550.2(TTN):c.4641G>T (p.Val1547=)
|
rs1012929202
|
0.00001
|
|
NM_001267550.2(TTN):c.4645+19A>G
|
rs773772445
|
0.00001
|
|
NM_001267550.2(TTN):c.4649T>C (p.Val1550Ala)
|
rs765557850
|
0.00001
|
|
NM_001267550.2(TTN):c.46521G>C (p.Lys15507Asn)
|
rs781291079
|
0.00001
|
|
NM_001267550.2(TTN):c.46620T>C (p.Asp15540=)
|
rs770539716
|
0.00001
|
|
NM_001267550.2(TTN):c.46677A>G (p.Arg15559=)
|
rs1057522659
|
0.00001
|
|
NM_001267550.2(TTN):c.46697-19A>G
|
rs771838313
|
0.00001
|
|
NM_001267550.2(TTN):c.46702C>T (p.Pro15568Ser)
|
rs561728671
|
0.00001
|
|
NM_001267550.2(TTN):c.46716A>G (p.Thr15572=)
|
rs756209105
|
0.00001
|
|
NM_001267550.2(TTN):c.46746C>A (p.Gly15582=)
|
rs759938870
|
0.00001
|
|
NM_001267550.2(TTN):c.46782C>T (p.Tyr15594=)
|
rs397517587
|
0.00001
|
|
NM_001267550.2(TTN):c.46806T>C (p.Phe15602=)
|
rs770792191
|
0.00001
|
|
NM_001267550.2(TTN):c.46899G>A (p.Gly15633=)
|
rs727504195
|
0.00001
|
|
NM_001267550.2(TTN):c.46953T>C (p.Asn15651=)
|
rs1559852611
|
0.00001
|
|
NM_001267550.2(TTN):c.46967-15A>T
|
rs540864875
|
0.00001
|
|
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr)
|
rs145957227
|
0.00001
|
|
NM_001267550.2(TTN):c.47028T>C (p.Leu15676=)
|
rs1450143776
|
0.00001
|
|
NM_001267550.2(TTN):c.47079T>G (p.Val15693=)
|
rs1367055779
|
0.00001
|
|
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys)
|
rs577133803
|
0.00001
|
|
NM_001267550.2(TTN):c.47269+10T>G
|
rs1060503966
|
0.00001
|
|
NM_001267550.2(TTN):c.47296A>T (p.Thr15766Ser)
|
rs878854312
|
0.00001
|
|
NM_001267550.2(TTN):c.47334A>G (p.Thr15778=)
|
rs985120825
|
0.00001
|
|
NM_001267550.2(TTN):c.47380G>A (p.Val15794Ile)
|
rs727504878
|
0.00001
|
|
NM_001267550.2(TTN):c.4740G>A (p.Thr1580=)
|
rs765087240
|
0.00001
|
|
NM_001267550.2(TTN):c.47430T>C (p.Thr15810=)
|
rs373878153
|
0.00001
|
|
NM_001267550.2(TTN):c.47448G>A (p.Leu15816=)
|
rs878891961
|
0.00001
|
|
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter)
|
rs751746401
|
0.00001
|
|
NM_001267550.2(TTN):c.47498T>A (p.Val15833Glu)
|
rs758495958
|
0.00001
|
|
NM_001267550.2(TTN):c.474C>G (p.Leu158=)
|
rs149574119
|
0.00001
|
|
NM_001267550.2(TTN):c.47530C>G (p.Pro15844Ala)
|
rs760956511
|
0.00001
|
|
NM_001267550.2(TTN):c.47553C>T (p.Val15851=)
|
rs1207097069
|
0.00001
|
|
NM_001267550.2(TTN):c.47740G>C (p.Val15914Leu)
|
rs764059405
|
0.00001
|
|
NM_001267550.2(TTN):c.47748A>G (p.Glu15916=)
|
rs760483525
|
0.00001
|
|
NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln)
|
rs775513269
|
0.00001
|
|
NM_001267550.2(TTN):c.47761-5C>T
|
rs749822598
|
0.00001
|
|
NM_001267550.2(TTN):c.4784T>G (p.Ile1595Ser)
|
rs1012905833
|
0.00001
|
|
NM_001267550.2(TTN):c.47856C>A (p.Leu15952=)
|
rs1362019752
|
0.00001
|
|
NM_001267550.2(TTN):c.47865C>T (p.Asp15955=)
|
rs773495187
|
0.00001
|
|
NM_001267550.2(TTN):c.47875+6T>C
|
rs780524253
|
0.00001
|
|
NM_001267550.2(TTN):c.47943G>A (p.Thr15981=)
|
rs751428690
|
0.00001
|
|
NM_001267550.2(TTN):c.47970A>G (p.Pro15990=)
|
rs762054306
|
0.00001
|
|
NM_001267550.2(TTN):c.48000T>C (p.Asp16000=)
|
rs760906090
|
0.00001
|
|
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs)
|
rs794729319
|
0.00001
|
|
NM_001267550.2(TTN):c.48054C>T (p.Ala16018=)
|
rs779940754
|
0.00001
|
|
NM_001267550.2(TTN):c.48081T>C (p.Arg16027=)
|
rs754088360
|
0.00001
|
|
NM_001267550.2(TTN):c.48111A>G (p.Leu16037=)
|
rs377491064
|
0.00001
|
|
NM_001267550.2(TTN):c.48119G>A (p.Arg16040His)
|
rs956699957
|
0.00001
|
|
NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr)
|
rs749678590
|
0.00001
|
|
NM_001267550.2(TTN):c.48152A>G (p.Asn16051Ser)
|
rs534426018
|
0.00001
|
|
NM_001267550.2(TTN):c.48160+1G>C
|
rs779498825
|
0.00001
|
|
NM_001267550.2(TTN):c.48160+7A>G
|
rs2057414181
|
0.00001
|
|
NM_001267550.2(TTN):c.48161-19T>C
|
rs1476549808
|
0.00001
|
|
NM_001267550.2(TTN):c.48246T>C (p.Asp16082=)
|
rs771542149
|
0.00001
|
|
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)
|
rs374140736
|
0.00001
|
|
NM_001267550.2(TTN):c.48312+10G>C
|
rs372193364
|
0.00001
|
|
NM_001267550.2(TTN):c.48312+14A>T
|
rs2057365299
|
0.00001
|
|
NM_001267550.2(TTN):c.48331G>A (p.Asp16111Asn)
|
rs769898196
|
0.00001
|
|
NM_001267550.2(TTN):c.48337G>A (p.Glu16113Lys)
|
rs548275593
|
0.00001
|
|
NM_001267550.2(TTN):c.48409C>T (p.Pro16137Ser)
|
rs879009898
|
0.00001
|
|
NM_001267550.2(TTN):c.48411T>C (p.Pro16137=)
|
rs1306044978
|
0.00001
|
|
NM_001267550.2(TTN):c.48461-13C>T
|
rs774563759
|
0.00001
|
|
NM_001267550.2(TTN):c.48461-4G>A
|
rs749445039
|
0.00001
|
|
NM_001267550.2(TTN):c.48461C>T (p.Thr16154Met)
|
rs771120250
|
0.00001
|
|
NM_001267550.2(TTN):c.48498T>G (p.Asp16166Glu)
|
rs1429263816
|
0.00001
|
|
NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter)
|
rs869312048
|
0.00001
|
|
NM_001267550.2(TTN):c.48543T>C (p.Asn16181=)
|
rs564454549
|
0.00001
|
|
NM_001267550.2(TTN):c.48560T>G (p.Ile16187Ser)
|
rs777279411
|
0.00001
|
|
NM_001267550.2(TTN):c.48639-19C>T
|
rs772336822
|
0.00001
|
|
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys)
|
rs185789611
|
0.00001
|
|
NM_001267550.2(TTN):c.48760+11T>C
|
rs759878678
|
0.00001
|
|
NM_001267550.2(TTN):c.48761-14C>T
|
rs374241606
|
0.00001
|
|
NM_001267550.2(TTN):c.48768A>G (p.Pro16256=)
|
rs779245098
|
0.00001
|
|
NM_001267550.2(TTN):c.48783T>C (p.Asp16261=)
|
rs574915586
|
0.00001
|
|
NM_001267550.2(TTN):c.48842C>T (p.Thr16281Ile)
|
rs1553703631
|
0.00001
|
|
NM_001267550.2(TTN):c.48849C>T (p.Thr16283=)
|
rs768147224
|
0.00001
|
|
NM_001267550.2(TTN):c.48879A>T (p.Thr16293=)
|
rs1553703542
|
0.00001
|
|
NM_001267550.2(TTN):c.48891G>A (p.Met16297Ile)
|
rs754110019
|
0.00001
|
|
NM_001267550.2(TTN):c.4890G>A (p.Ala1630=)
|
rs752145538
|
0.00001
|
|
NM_001267550.2(TTN):c.48933T>C (p.Pro16311=)
|
rs776249400
|
0.00001
|
|
NM_001267550.2(TTN):c.4893T>C (p.Thr1631=)
|
rs761409910
|
0.00001
|
|
NM_001267550.2(TTN):c.48960T>C (p.Asp16320=)
|
rs1057523898
|
0.00001
|
|
NM_001267550.2(TTN):c.49016G>A (p.Arg16339Gln)
|
rs558487304
|
0.00001
|
|
NM_001267550.2(TTN):c.4903A>G (p.Lys1635Glu)
|
rs776274777
|
0.00001
|
|
NM_001267550.2(TTN):c.49049-20A>G
|
rs1486812338
|
0.00001
|
|
NM_001267550.2(TTN):c.49119C>T (p.Asn16373=)
|
rs1576457751
|
0.00001
|
|
NM_001267550.2(TTN):c.49137T>G (p.Gly16379=)
|
rs372012299
|
0.00001
|
|
NM_001267550.2(TTN):c.49191G>A (p.Val16397=)
|
rs1248893203
|
0.00001
|
|
NM_001267550.2(TTN):c.49212C>T (p.Thr16404=)
|
rs749784602
|
0.00001
|
|
NM_001267550.2(TTN):c.49258G>A (p.Glu16420Lys)
|
rs764682084
|
0.00001
|
|
NM_001267550.2(TTN):c.49266C>A (p.Ile16422=)
|
rs1375657505
|
0.00001
|
|
NM_001267550.2(TTN):c.49287C>T (p.Asn16429=)
|
rs763809932
|
0.00001
|
|
NM_001267550.2(TTN):c.49346-20C>T
|
rs1338669169
|
0.00001
|
|
NM_001267550.2(TTN):c.49346-2A>T
|
rs794729263
|
0.00001
|
|
NM_001267550.2(TTN):c.49347T>C (p.Asp16449=)
|
rs774444882
|
0.00001
|
|
NM_001267550.2(TTN):c.49449A>G (p.Thr16483=)
|
rs769061694
|
0.00001
|
|
NM_001267550.2(TTN):c.49532+20C>G
|
rs1373933239
|
0.00001
|
|
NM_001267550.2(TTN):c.49542T>A (p.Gly16514=)
|
rs768442614
|
0.00001
|
|
NM_001267550.2(TTN):c.49593T>C (p.Ala16531=)
|
rs764256594
|
0.00001
|
|
NM_001267550.2(TTN):c.49648+20T>G
|
rs768229581
|
0.00001
|
|
NM_001267550.2(TTN):c.49656A>G (p.Pro16552=)
|
rs982034509
|
0.00001
|
|
NM_001267550.2(TTN):c.49707G>T (p.Arg16569Ser)
|
rs879180534
|
0.00001
|
|
NM_001267550.2(TTN):c.49708T>C (p.Leu16570=)
|
rs781276769
|
0.00001
|
|
NM_001267550.2(TTN):c.49734T>C (p.Asp16578=)
|
rs753421545
|
0.00001
|
|
NM_001267550.2(TTN):c.49776G>A (p.Lys16592=)
|
rs770835197
|
0.00001
|
|
NM_001267550.2(TTN):c.49806G>A (p.Ala16602=)
|
rs1373317697
|
0.00001
|
|
NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val)
|
rs749438439
|
0.00001
|
|
NM_001267550.2(TTN):c.49827G>A (p.Gln16609=)
|
rs780597566
|
0.00001
|
|
NM_001267550.2(TTN):c.49834C>T (p.Leu16612Phe)
|
rs750840061
|
0.00001
|
|
NM_001267550.2(TTN):c.49837C>G (p.Pro16613Ala)
|
rs1468557688
|
0.00001
|
|
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter)
|
rs1471414348
|
0.00001
|
|
NM_001267550.2(TTN):c.49890G>A (p.Lys16630=)
|
rs1442542064
|
0.00001
|
|
NM_001267550.2(TTN):c.4995G>A (p.Gly1665=)
|
rs755324231
|
0.00001
|
|
NM_001267550.2(TTN):c.49978G>A (p.Val16660Ile)
|
rs757016105
|
0.00001
|
|
NM_001267550.2(TTN):c.49992A>G (p.Thr16664=)
|
rs752928812
|
0.00001
|
|
NM_001267550.2(TTN):c.5000A>G (p.Tyr1667Cys)
|
rs140494897
|
0.00001
|
|
NM_001267550.2(TTN):c.50076C>T (p.Asp16692=)
|
rs397517598
|
0.00001
|
|
NM_001267550.2(TTN):c.50148T>A (p.Thr16716=)
|
rs374138859
|
0.00001
|
|
NM_001267550.2(TTN):c.50154C>A (p.Gly16718=)
|
rs894625126
|
0.00001
|
|
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter)
|
rs794729265
|
0.00001
|
|
NM_001267550.2(TTN):c.50205C>T (p.Asp16735=)
|
rs1185567072
|
0.00001
|
|
NM_001267550.2(TTN):c.5022C>G (p.Ala1674=)
|
rs753444772
|
0.00001
|
|
NM_001267550.2(TTN):c.50244C>T (p.Thr16748=)
|
rs778337707
|
0.00001
|
|
NM_001267550.2(TTN):c.50248+11G>C
|
rs770433212
|
0.00001
|
|
NM_001267550.2(TTN):c.50248+12C>T
|
rs749209819
|
0.00001
|
|
NM_001267550.2(TTN):c.50268C>T (p.Tyr16756=)
|
rs748836778
|
0.00001
|
|
NM_001267550.2(TTN):c.50310A>C (p.Leu16770=)
|
rs909355106
|
0.00001
|
|
NM_001267550.2(TTN):c.50348T>C (p.Ile16783Thr)
|
rs950940404
|
0.00001
|
|
NM_001267550.2(TTN):c.50354+10G>T
|
rs772647911
|
0.00001
|
|
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)
|
rs397517599
|
0.00001
|
|
NM_001267550.2(TTN):c.50400A>T (p.Lys16800Asn)
|
rs794729239
|
0.00001
|
|
NM_001267550.2(TTN):c.50430C>T (p.Asn16810=)
|
rs878854313
|
0.00001
|
|
NM_001267550.2(TTN):c.50511A>T (p.Pro16837=)
|
rs574553890
|
0.00001
|
|
NM_001267550.2(TTN):c.50549_50551+5dup
|
rs1060500453
|
0.00001
|
|
NM_001267550.2(TTN):c.50554C>T (p.Pro16852Ser)
|
rs752660748
|
0.00001
|
|
NM_001267550.2(TTN):c.5061G>A (p.Glu1687=)
|
rs774128771
|
0.00001
|
|
NM_001267550.2(TTN):c.50637T>C (p.Asn16879=)
|
rs1311231359
|
0.00001
|
|
NM_001267550.2(TTN):c.50642G>C (p.Gly16881Ala)
|
rs201302681
|
0.00001
|
|
NM_001267550.2(TTN):c.5080C>T (p.Leu1694Phe)
|
rs769798880
|
0.00001
|
|
NM_001267550.2(TTN):c.50857+14G>T
|
rs1176781289
|
0.00001
|
|
NM_001267550.2(TTN):c.50865A>T (p.Pro16955=)
|
rs754038742
|
0.00001
|
|
NM_001267550.2(TTN):c.50905G>C (p.Gly16969Arg)
|
rs878854314
|
0.00001
|
|
NM_001267550.2(TTN):c.50928T>C (p.Val16976=)
|
rs746690194
|
0.00001
|
|
NM_001267550.2(TTN):c.50979A>G (p.Lys16993=)
|
rs913914694
|
0.00001
|
|
NM_001267550.2(TTN):c.51012G>T (p.Lys17004Asn)
|
rs755153359
|
0.00001
|
|
NM_001267550.2(TTN):c.51015T>C (p.Asn17005=)
|
rs752077995
|
0.00001
|
|
NM_001267550.2(TTN):c.51018T>C (p.Asp17006=)
|
rs1163818093
|
0.00001
|
|
NM_001267550.2(TTN):c.51055C>T (p.Arg17019Cys)
|
rs773394284
|
0.00001
|
|
NM_001267550.2(TTN):c.51099C>T (p.Leu17033=)
|
rs755994820
|
0.00001
|
|
NM_001267550.2(TTN):c.5109A>G (p.Pro1703=)
|
rs781287476
|
0.00001
|
|
NM_001267550.2(TTN):c.5115C>T (p.Phe1705=)
|
rs375828531
|
0.00001
|
|
NM_001267550.2(TTN):c.51231C>A (p.Thr17077=)
|
rs779518431
|
0.00001
|
|
NM_001267550.2(TTN):c.51297T>C (p.Ser17099=)
|
rs1237576280
|
0.00001
|
|
NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val)
|
rs370696020
|
0.00001
|
|
NM_001267550.2(TTN):c.51377A>G (p.Lys17126Arg)
|
rs757728544
|
0.00001
|
|
NM_001267550.2(TTN):c.51414A>G (p.Pro17138=)
|
rs376459830
|
0.00001
|
|
NM_001267550.2(TTN):c.51417C>T (p.Val17139=)
|
rs749889101
|
0.00001
|
|
NM_001267550.2(TTN):c.51436+1G>A
|
rs761807131
|
0.00001
|
|
NM_001267550.2(TTN):c.51449C>T (p.Pro17150Leu)
|
rs764792715
|
0.00001
|
|
NM_001267550.2(TTN):c.51477T>C (p.Pro17159=)
|
rs759802048
|
0.00001
|
|
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala)
|
rs768961892
|
0.00001
|
|
NM_001267550.2(TTN):c.51593A>G (p.Asn17198Ser)
|
rs766535854
|
0.00001
|
|
NM_001267550.2(TTN):c.51603G>C (p.Leu17201=)
|
rs2055879297
|
0.00001
|
|
NM_001267550.2(TTN):c.51621T>C (p.Tyr17207=)
|
rs773209033
|
0.00001
|
|
NM_001267550.2(TTN):c.51649G>A (p.Glu17217Lys)
|
rs1060500503
|
0.00001
|
|
NM_001267550.2(TTN):c.51672A>G (p.Ala17224=)
|
rs755746120
|
0.00001
|
|
NM_001267550.2(TTN):c.516G>A (p.Gly172=)
|
rs747789397
|
0.00001
|
|
NM_001267550.2(TTN):c.51756T>C (p.Ile17252=)
|
rs1409424419
|
0.00001
|
|
NM_001267550.2(TTN):c.51823C>T (p.Pro17275Ser)
|
rs752852690
|
0.00001
|
|
NM_001267550.2(TTN):c.51906G>A (p.Arg17302=)
|
rs771939605
|
0.00001
|
|
NM_001267550.2(TTN):c.51933A>G (p.Glu17311=)
|
rs770822382
|
0.00001
|
|
NM_001267550.2(TTN):c.51986_51987del (p.Lys17329fs)
|
rs1195974666
|
0.00001
|
|
NM_001267550.2(TTN):c.5199G>A (p.Thr1733=)
|
rs1244676379
|
0.00001
|
|
NM_001267550.2(TTN):c.52005C>T (p.Arg17335=)
|
rs940135679
|
0.00001
|
|
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter)
|
rs1343120755
|
0.00001
|
|
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter)
|
rs926741242
|
0.00001
|
|
NM_001267550.2(TTN):c.52026T>C (p.Pro17342=)
|
rs368435750
|
0.00001
|
|
NM_001267550.2(TTN):c.52032T>C (p.His17344=)
|
rs374254751
|
0.00001
|
|
NM_001267550.2(TTN):c.52067G>A (p.Gly17356Asp)
|
rs759091835
|
0.00001
|
|
NM_001267550.2(TTN):c.52098G>A (p.Val17366=)
|
rs727503617
|
0.00001
|
|
NM_001267550.2(TTN):c.52103-17C>T
|
rs751011038
|
0.00001
|
|
NM_001267550.2(TTN):c.52135G>C (p.Glu17379Gln)
|
rs770795675
|
0.00001
|
|
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)
|
rs397517607
|
0.00001
|
|
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn)
|
rs397517609
|
0.00001
|
|
NM_001267550.2(TTN):c.52281T>C (p.His17427=)
|
rs760939368
|
0.00001
|
|
NM_001267550.2(TTN):c.52304T>A (p.Leu17435Gln)
|
rs1060500542
|
0.00001
|
|
NM_001267550.2(TTN):c.52313G>A (p.Gly17438Glu)
|
rs1356720044
|
0.00001
|
|
NM_001267550.2(TTN):c.52323C>T (p.Tyr17441=)
|
rs749855424
|
0.00001
|
|
NM_001267550.2(TTN):c.52338A>G (p.Arg17446=)
|
rs779531031
|
0.00001
|
|
NM_001267550.2(TTN):c.52374T>C (p.Val17458=)
|
rs752571545
|
0.00001
|
|
NM_001267550.2(TTN):c.52386T>C (p.Leu17462=)
|
rs369139618
|
0.00001
|
|
NM_001267550.2(TTN):c.52405+7T>C
|
rs374157382
|
0.00001
|
|
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln)
|
rs372618781
|
0.00001
|
|
NM_001267550.2(TTN):c.52437G>A (p.Val17479=)
|
rs1576375263
|
0.00001
|
|
NM_001267550.2(TTN):c.52491T>C (p.Asn17497=)
|
rs745494874
|
0.00001
|
|
NM_001267550.2(TTN):c.52595A>G (p.Asp17532Gly)
|
rs1401966542
|
0.00001
|
|
NM_001267550.2(TTN):c.52596T>C (p.Asp17532=)
|
rs761084280
|
0.00001
|
|
NM_001267550.2(TTN):c.5268A>G (p.Glu1756=)
|
rs775999739
|
0.00001
|
|
NM_001267550.2(TTN):c.52716G>A (p.Gly17572=)
|
rs369877063
|
0.00001
|
|
NM_001267550.2(TTN):c.52854C>A (p.Arg17618=)
|
rs899709298
|
0.00001
|
|
NM_001267550.2(TTN):c.52887C>T (p.Tyr17629=)
|
rs940211628
|
0.00001
|
|
NM_001267550.2(TTN):c.52905A>G (p.Arg17635=)
|
rs372908128
|
0.00001
|
|
NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=)
|
rs1553687219
|
0.00001
|
|
NM_001267550.2(TTN):c.52947C>T (p.Ala17649=)
|
rs766991039
|
0.00001
|
|
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)
|
rs535008556
|
0.00001
|
|
NM_001267550.2(TTN):c.52950A>G (p.Ala17650=)
|
rs774191524
|
0.00001
|
|
NM_001267550.2(TTN):c.53002+9C>T
|
rs374671774
|
0.00001
|
|
NM_001267550.2(TTN):c.53127A>G (p.Glu17709=)
|
rs2055198035
|
0.00001
|
|
NM_001267550.2(TTN):c.53154T>C (p.Val17718=)
|
rs990097785
|
0.00001
|
|
NM_001267550.2(TTN):c.53193C>T (p.Ile17731=)
|
rs1375846477
|
0.00001
|
|
NM_001267550.2(TTN):c.5319T>C (p.Gly1773=)
|
rs147314442
|
0.00001
|
|
NM_001267550.2(TTN):c.53229G>A (p.Val17743=)
|
rs376469717
|
0.00001
|
|
NM_001267550.2(TTN):c.53246G>C (p.Ser17749Thr)
|
rs1553686153
|
0.00001
|
|
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)
|
rs397517612
|
0.00001
|
|
NM_001267550.2(TTN):c.53288-13G>T
|
rs762229186
|
0.00001
|
|
NM_001267550.2(TTN):c.53402T>C (p.Ile17801Thr)
|
rs370929667
|
0.00001
|
|
NM_001267550.2(TTN):c.53415T>C (p.Asp17805=)
|
rs1436348536
|
0.00001
|
|
NM_001267550.2(TTN):c.53448G>A (p.Glu17816=)
|
rs750500146
|
0.00001
|
|
NM_001267550.2(TTN):c.53481G>C (p.Leu17827=)
|
rs754240893
|
0.00001
|
|
NM_001267550.2(TTN):c.53493A>G (p.Gln17831=)
|
rs1259584072
|
0.00001
|
|
NM_001267550.2(TTN):c.53571T>A (p.Val17857=)
|
rs2055057176
|
0.00001
|
|
NM_001267550.2(TTN):c.53581+19T>C
|
rs764528095
|
0.00001
|
|
NM_001267550.2(TTN):c.53625A>G (p.Thr17875=)
|
rs373277508
|
0.00001
|
|
NM_001267550.2(TTN):c.53643T>G (p.Leu17881=)
|
rs746078643
|
0.00001
|
|
NM_001267550.2(TTN):c.53708G>A (p.Arg17903His)
|
rs755252821
|
0.00001
|
|
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter)
|
rs753333359
|
0.00001
|
|
NM_001267550.2(TTN):c.53757C>T (p.Thr17919=)
|
rs989282574
|
0.00001
|
|
NM_001267550.2(TTN):c.53785G>A (p.Glu17929Lys)
|
rs201052994
|
0.00001
|
|
NM_001267550.2(TTN):c.53799T>C (p.Tyr17933=)
|
rs1264546013
|
0.00001
|
|
NM_001267550.2(TTN):c.53839G>A (p.Glu17947Lys)
|
rs1445321949
|
0.00001
|
|
NM_001267550.2(TTN):c.53882-5T>G
|
rs1369648014
|
0.00001
|
|
NM_001267550.2(TTN):c.54114G>A (p.Glu18038=)
|
rs750171692
|
0.00001
|
|
NM_001267550.2(TTN):c.54132A>G (p.Thr18044=)
|
rs764321069
|
0.00001
|
|
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter)
|
rs768431507
|
0.00001
|
|
NM_001267550.2(TTN):c.54177C>T (p.His18059=)
|
rs772133203
|
0.00001
|
|
NM_001267550.2(TTN):c.54190+17C>G
|
rs759925759
|
0.00001
|
|
NM_001267550.2(TTN):c.54191-8C>G
|
rs1181939066
|
0.00001
|
|
NM_001267550.2(TTN):c.54204A>C (p.Pro18068=)
|
rs1197763731
|
0.00001
|
|
NM_001267550.2(TTN):c.5421T>C (p.Pro1807=)
|
rs779689706
|
0.00001
|
|
NM_001267550.2(TTN):c.54249C>T (p.Tyr18083=)
|
rs1209681119
|
0.00001
|
|
NM_001267550.2(TTN):c.54324T>C (p.Ser18108=)
|
rs397517619
|
0.00001
|
|
NM_001267550.2(TTN):c.54330G>A (p.Lys18110=)
|
rs1167846458
|
0.00001
|
|
NM_001267550.2(TTN):c.54378T>C (p.Tyr18126=)
|
rs769624146
|
0.00001
|
|
NM_001267550.2(TTN):c.543C>T (p.Ser181=)
|
rs758598014
|
0.00001
|
|
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter)
|
rs747236787
|
0.00001
|
|
NM_001267550.2(TTN):c.54450T>C (p.Ser18150=)
|
rs376316611
|
0.00001
|
|
NM_001267550.2(TTN):c.54532C>T (p.Arg18178Cys)
|
rs554701601
|
0.00001
|
|
NM_001267550.2(TTN):c.54555G>A (p.Val18185=)
|
rs537758755
|
0.00001
|
|
NM_001267550.2(TTN):c.54697G>A (p.Val18233Ile)
|
rs374996996
|
0.00001
|
|
NM_001267550.2(TTN):c.54698T>A (p.Val18233Asp)
|
rs1060500469
|
0.00001
|
|
NM_001267550.2(TTN):c.54700C>A (p.Pro18234Thr)
|
rs1060500416
|
0.00001
|
|
NM_001267550.2(TTN):c.54812-10T>G
|
rs1395409113
|
0.00001
|
|
NM_001267550.2(TTN):c.54883C>T (p.Pro18295Ser)
|
rs1162176452
|
0.00001
|
|
NM_001267550.2(TTN):c.54888A>C (p.Pro18296=)
|
rs1416503595
|
0.00001
|
|
NM_001267550.2(TTN):c.54891C>T (p.Ala18297=)
|
rs1404387312
|
0.00001
|
|
NM_001267550.2(TTN):c.54897T>C (p.Asp18299=)
|
rs879091326
|
0.00001
|
|
NM_001267550.2(TTN):c.54912C>T (p.Ile18304=)
|
rs755601760
|
0.00001
|
|
NM_001267550.2(TTN):c.55010C>T (p.Pro18337Leu)
|
rs764568599
|
0.00001
|
|
NM_001267550.2(TTN):c.55044A>G (p.Arg18348=)
|
rs1014328478
|
0.00001
|
|
NM_001267550.2(TTN):c.55101C>A (p.Ile18367=)
|
rs2053662063
|
0.00001
|
|
NM_001267550.2(TTN):c.55143C>T (p.Asp18381=)
|
rs1057522461
|
0.00001
|
|
NM_001267550.2(TTN):c.55195C>T (p.Pro18399Ser)
|
rs774591174
|
0.00001
|
|
NM_001267550.2(TTN):c.55228T>C (p.Ser18410Pro)
|
rs778636992
|
0.00001
|
|
NM_001267550.2(TTN):c.55290C>T (p.Pro18430=)
|
rs777904054
|
0.00001
|
|
NM_001267550.2(TTN):c.55300C>T (p.Gln18434Ter)
|
rs1284529298
|
0.00001
|
|
NM_001267550.2(TTN):c.55302G>A (p.Gln18434=)
|
rs567251026
|
0.00001
|
|
NM_001267550.2(TTN):c.55303-15A>G
|
rs770858545
|
0.00001
|
|
NM_001267550.2(TTN):c.55359T>C (p.His18453=)
|
rs758900316
|
0.00001
|
|
NM_001267550.2(TTN):c.55425A>G (p.Lys18475=)
|
rs757518858
|
0.00001
|
|
NM_001267550.2(TTN):c.55432+11C>T
|
rs1256005824
|
0.00001
|
|
NM_001267550.2(TTN):c.55432+19G>A
|
rs1213547538
|
0.00001
|
|
NM_001267550.2(TTN):c.55432+3A>G
|
rs1439287309
|
0.00001
|
|
NM_001267550.2(TTN):c.55432+5G>C
|
rs754717390
|
0.00001
|
|
NM_001267550.2(TTN):c.55479G>A (p.Arg18493=)
|
rs573602671
|
0.00001
|
|
NM_001267550.2(TTN):c.55503G>A (p.Lys18501=)
|
rs879239475
|
0.00001
|
|
NM_001267550.2(TTN):c.55515C>T (p.Asp18505=)
|
rs141323535
|
0.00001
|
|
NM_001267550.2(TTN):c.55516G>A (p.Asp18506Asn)
|
rs757839460
|
0.00001
|
|
NM_001267550.2(TTN):c.55650C>T (p.Phe18550=)
|
rs1248662230
|
0.00001
|
|
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)
|
rs1483931960
|
0.00001
|
|
NM_001267550.2(TTN):c.55733-15T>G
|
rs765730846
|
0.00001
|
|
NM_001267550.2(TTN):c.55733-19C>A
|
rs750528635
|
0.00001
|
|
NM_001267550.2(TTN):c.5586C>T (p.Cys1862=)
|
rs766457948
|
0.00001
|
|
NM_001267550.2(TTN):c.55875G>A (p.Gly18625=)
|
rs267599045
|
0.00001
|
|
NM_001267550.2(TTN):c.55910G>A (p.Arg18637His)
|
rs758627195
|
0.00001
|
|
NM_001267550.2(TTN):c.55926G>T (p.Leu18642=)
|
rs1270130661
|
0.00001
|
|
NM_001267550.2(TTN):c.55959G>A (p.Gly18653=)
|
rs373955996
|
0.00001
|
|
NM_001267550.2(TTN):c.55965T>C (p.Tyr18655=)
|
rs772959936
|
0.00001
|
|
NM_001267550.2(TTN):c.55986C>T (p.Val18662=)
|
rs747136342
|
0.00001
|
|
NM_001267550.2(TTN):c.56050T>C (p.Cys18684Arg)
|
rs761599633
|
0.00001
|
|
NM_001267550.2(TTN):c.56051-1G>A
|
rs1385817640
|
0.00001
|
|
NM_001267550.2(TTN):c.56106T>G (p.Val18702=)
|
rs371043153
|
0.00001
|
|
NM_001267550.2(TTN):c.56142G>A (p.Pro18714=)
|
rs758771859
|
0.00001
|
|
NM_001267550.2(TTN):c.56211T>C (p.His18737=)
|
rs1338848786
|
0.00001
|
|
NM_001267550.2(TTN):c.56213T>G (p.Val18738Gly)
|
rs777956655
|
0.00001
|
|
NM_001267550.2(TTN):c.56256G>A (p.Pro18752=)
|
rs111262307
|
0.00001
|
|
NM_001267550.2(TTN):c.5633G>A (p.Gly1878Glu)
|
rs745311218
|
0.00001
|
|
NM_001267550.2(TTN):c.56433T>C (p.Asp18811=)
|
rs771353550
|
0.00001
|
|
NM_001267550.2(TTN):c.56442G>A (p.Gly18814=)
|
rs527288838
|
0.00001
|
|
NM_001267550.2(TTN):c.56487G>A (p.Arg18829=)
|
rs1272419562
|
0.00001
|
|
NM_001267550.2(TTN):c.56583C>T (p.Ala18861=)
|
rs1182032941
|
0.00001
|
|
NM_001267550.2(TTN):c.56643C>A (p.Leu18881=)
|
rs758504388
|
0.00001
|
|
NM_001267550.2(TTN):c.56647+15A>G
|
rs918392584
|
0.00001
|
|
NM_001267550.2(TTN):c.56648-14G>T
|
rs773228107
|
0.00001
|
|
NM_001267550.2(TTN):c.56648-1G>A
|
rs769912484
|
0.00001
|
|
NM_001267550.2(TTN):c.56653C>T (p.Pro18885Ser)
|
rs747971851
|
0.00001
|
|
NM_001267550.2(TTN):c.56674A>C (p.Thr18892Pro)
|
rs780258242
|
0.00001
|
|
NM_001267550.2(TTN):c.56697C>T (p.Asn18899=)
|
rs764312590
|
0.00001
|
|
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter)
|
rs72646828
|
0.00001
|
|
NM_001267550.2(TTN):c.5683C>T (p.His1895Tyr)
|
rs794729577
|
0.00001
|
|
NM_001267550.2(TTN):c.56931A>G (p.Pro18977=)
|
rs1395629279
|
0.00001
|
|
NM_001267550.2(TTN):c.56934A>G (p.Ser18978=)
|
rs547270620
|
0.00001
|
|
NM_001267550.2(TTN):c.56962+14C>G
|
rs770180514
|
0.00001
|
|
NM_001267550.2(TTN):c.56963-3C>T
|
rs375979145
|
0.00001
|
|
NM_001267550.2(TTN):c.56997T>C (p.Asp18999=)
|
rs375918771
|
0.00001
|
|
NM_001267550.2(TTN):c.57070A>G (p.Ile19024Val)
|
rs876658068
|
0.00001
|
|
NM_001267550.2(TTN):c.57072C>T (p.Ile19024=)
|
rs751290837
|
0.00001
|
|
NM_001267550.2(TTN):c.57127del (p.Glu19042_Val19043insTer)
|
rs2052216955
|
0.00001
|
|
NM_001267550.2(TTN):c.57129G>C (p.Val19043=)
|
rs1158953463
|
0.00001
|
|
NM_001267550.2(TTN):c.57162G>A (p.Lys19054=)
|
rs958237286
|
0.00001
|
|
NM_001267550.2(TTN):c.57168A>C (p.Gly19056=)
|
rs1478494265
|
0.00001
|
|
NM_001267550.2(TTN):c.5722G>A (p.Gly1908Ser)
|
rs964474432
|
0.00001
|
|
NM_001267550.2(TTN):c.57243T>A (p.Ile19081=)
|
rs1185555417
|
0.00001
|
|
NM_001267550.2(TTN):c.57262G>T (p.Val19088Phe)
|
rs727505347
|
0.00001
|
|
NM_001267550.2(TTN):c.57263-10T>C
|
rs764421567
|
0.00001
|
|
NM_001267550.2(TTN):c.57263-6T>C
|
rs562237741
|
0.00001
|
|
NM_001267550.2(TTN):c.57273C>T (p.Asp19091=)
|
rs587780489
|
0.00001
|
|
NM_001267550.2(TTN):c.57285T>C (p.Asp19095=)
|
rs1250339357
|
0.00001
|
|
NM_001267550.2(TTN):c.57336C>A (p.Ile19112=)
|
rs1353810362
|
0.00001
|
|
NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala)
|
rs587782985
|
0.00001
|
|
NM_001267550.2(TTN):c.57378G>A (p.Trp19126Ter)
|
rs1192054216
|
0.00001
|
|
NM_001267550.2(TTN):c.57387T>A (p.Asn19129Lys)
|
rs375305621
|
0.00001
|
|
NM_001267550.2(TTN):c.57471T>C (p.His19157=)
|
rs765704380
|
0.00001
|
|
NM_001267550.2(TTN):c.57507C>T (p.Ala19169=)
|
rs758951190
|
0.00001
|
|
NM_001267550.2(TTN):c.57544+4A>G
|
rs869312053
|
0.00001
|
|
NM_001267550.2(TTN):c.57558C>T (p.Pro19186=)
|
rs768333256
|
0.00001
|
|
NM_001267550.2(TTN):c.57603C>A (p.Cys19201Ter)
|
rs1418030810
|
0.00001
|
|
NM_001267550.2(TTN):c.57618T>C (p.Phe19206=)
|
rs879238032
|
0.00001
|
|
NM_001267550.2(TTN):c.57635G>A (p.Gly19212Glu)
|
rs761511119
|
0.00001
|
|
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter)
|
rs794729275
|
0.00001
|
|
NM_001267550.2(TTN):c.57848-19C>G
|
rs753716738
|
0.00001
|
|
NM_001267550.2(TTN):c.57848-5C>T
|
rs764245090
|
0.00001
|
|
NM_001267550.2(TTN):c.57849T>C (p.Thr19283=)
|
rs989489157
|
0.00001
|
|
NM_001267550.2(TTN):c.57849del (p.Val19284fs)
|
rs776385412
|
0.00001
|
|
NM_001267550.2(TTN):c.5785A>T (p.Ile1929Phe)
|
rs748917796
|
0.00001
|
|
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His)
|
rs371422299
|
0.00001
|
|
NM_001267550.2(TTN):c.57927G>A (p.Lys19309=)
|
rs796247929
|
0.00001
|
|
NM_001267550.2(TTN):c.57933T>C (p.Asp19311=)
|
rs554555894
|
0.00001
|
|
NM_001267550.2(TTN):c.58074T>C (p.Arg19358=)
|
rs397517632
|
0.00001
|
|
NM_001267550.2(TTN):c.58095T>C (p.Val19365=)
|
rs368268998
|
0.00001
|
|
NM_001267550.2(TTN):c.58170C>T (p.Leu19390=)
|
rs754108889
|
0.00001
|
|
NM_001267550.2(TTN):c.58185G>A (p.Lys19395=)
|
rs756220273
|
0.00001
|
|
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=)
|
rs370091658
|
0.00001
|
|
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter)
|
rs768073446
|
0.00001
|
|
NM_001267550.2(TTN):c.58224C>T (p.Gly19408=)
|
rs2050896307
|
0.00001
|
|
NM_001267550.2(TTN):c.58295G>A (p.Arg19432His)
|
rs745631866
|
0.00001
|
|
NM_001267550.2(TTN):c.58299T>G (p.Thr19433=)
|
rs778334134
|
0.00001
|
|
NM_001267550.2(TTN):c.583+5G>A
|
rs397517663
|
0.00001
|
|
NM_001267550.2(TTN):c.58353T>A (p.Arg19451=)
|
rs775184645
|
0.00001
|
|
NM_001267550.2(TTN):c.58389C>T (p.Asn19463=)
|
rs1362679313
|
0.00001
|
|
NM_001267550.2(TTN):c.58447C>G (p.Pro19483Ala)
|
rs367624056
|
0.00001
|
|
NM_001267550.2(TTN):c.58521T>C (p.Asp19507=)
|
rs773058704
|
0.00001
|
|
NM_001267550.2(TTN):c.58561G>A (p.Glu19521Lys)
|
rs746319976
|
0.00001
|
|
NM_001267550.2(TTN):c.58575C>T (p.Asp19525=)
|
rs749735267
|
0.00001
|
|
NM_001267550.2(TTN):c.58616G>T (p.Cys19539Phe)
|
rs539868284
|
0.00001
|
|
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=)
|
rs727504980
|
0.00001
|
|
NM_001267550.2(TTN):c.58658G>A (p.Arg19553Gln)
|
rs543279513
|
0.00001
|
|
NM_001267550.2(TTN):c.58677G>A (p.Leu19559=)
|
rs375139958
|
0.00001
|
|
NM_001267550.2(TTN):c.5867A>G (p.Lys1956Arg)
|
rs1554006239
|
0.00001
|
|
NM_001267550.2(TTN):c.58720A>G (p.Lys19574Glu)
|
rs1032128606
|
0.00001
|
|
NM_001267550.2(TTN):c.58732+2T>C
|
rs869312054
|
0.00001
|
|
NM_001267550.2(TTN):c.58733-11A>G
|
rs751863235
|
0.00001
|
|
NM_001267550.2(TTN):c.58733-5T>A
|
rs1254611353
|
0.00001
|
|
NM_001267550.2(TTN):c.58746A>C (p.Ala19582=)
|
rs1336124090
|
0.00001
|
|
NM_001267550.2(TTN):c.58842C>T (p.Ile19614=)
|
rs762183796
|
0.00001
|
|
NM_001267550.2(TTN):c.58896T>C (p.Pro19632=)
|
rs376700325
|
0.00001
|
|
NM_001267550.2(TTN):c.59007C>G (p.Ser19669=)
|
rs139656306
|
0.00001
|
|
NM_001267550.2(TTN):c.59091C>T (p.Val19697=)
|
rs756192412
|
0.00001
|
|
NM_001267550.2(TTN):c.59157C>T (p.Tyr19719=)
|
rs760315357
|
0.00001
|
|
NM_001267550.2(TTN):c.59185A>C (p.Arg19729=)
|
rs1411662599
|
0.00001
|
|
NM_001267550.2(TTN):c.59232C>A (p.Val19744=)
|
rs2050534422
|
0.00001
|
|
NM_001267550.2(TTN):c.59294A>T (p.Glu19765Val)
|
rs766141647
|
0.00001
|
|
NM_001267550.2(TTN):c.59337C>T (p.Asp19779=)
|
rs772475819
|
0.00001
|
|
NM_001267550.2(TTN):c.59352T>C (p.Pro19784=)
|
rs1377168112
|
0.00001
|
|
NM_001267550.2(TTN):c.59359A>C (p.Ile19787Leu)
|
rs771610118
|
0.00001
|
|
NM_001267550.2(TTN):c.59445C>T (p.Phe19815=)
|
rs1328852709
|
0.00001
|
|
NM_001267550.2(TTN):c.59448A>G (p.Pro19816=)
|
rs370606774
|
0.00001
|
|
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter)
|
rs1250461669
|
0.00001
|
|
NM_001267550.2(TTN):c.59502T>C (p.Asp19834=)
|
rs972823319
|
0.00001
|
|
NM_001267550.2(TTN):c.59535T>G (p.Arg19845=)
|
rs370227467
|
0.00001
|
|
NM_001267550.2(TTN):c.59626+10T>G
|
rs1576122744
|
0.00001
|
|
NM_001267550.2(TTN):c.59685C>T (p.Tyr19895=)
|
rs397517644
|
0.00001
|
|
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)
|
rs974671846
|
0.00001
|
|
NM_001267550.2(TTN):c.59711A>G (p.Asp19904Gly)
|
rs1016296280
|
0.00001
|
|
NM_001267550.2(TTN):c.59811C>T (p.Phe19937=)
|
rs781544233
|
0.00001
|
|
NM_001267550.2(TTN):c.59858C>T (p.Ala19953Val)
|
rs754149259
|
0.00001
|
|
NM_001267550.2(TTN):c.60027C>T (p.Ile20009=)
|
rs368279024
|
0.00001
|
|
NM_001267550.2(TTN):c.60030T>C (p.Thr20010=)
|
rs1576111545
|
0.00001
|
|
NM_001267550.2(TTN):c.60033A>C (p.Gly20011=)
|
rs761455000
|
0.00001
|
|
NM_001267550.2(TTN):c.60104G>T (p.Cys20035Phe)
|
rs774488793
|
0.00001
|
|
NM_001267550.2(TTN):c.60180C>G (p.Leu20060=)
|
rs876657610
|
0.00001
|
|
NM_001267550.2(TTN):c.60195C>A (p.Ile20065=)
|
rs990501984
|
0.00001
|
|
NM_001267550.2(TTN):c.60221-15A>G
|
rs979267983
|
0.00001
|
|
NM_001267550.2(TTN):c.60225T>C (p.Pro20075=)
|
rs759362913
|
0.00001
|
|
NM_001267550.2(TTN):c.60231C>T (p.Ser20077=)
|
rs751255726
|
0.00001
|
|
NM_001267550.2(TTN):c.6030T>C (p.Tyr2010=)
|
rs1000321939
|
0.00001
|
|
NM_001267550.2(TTN):c.60318T>A (p.Pro20106=)
|
rs377636338
|
0.00001
|
|
NM_001267550.2(TTN):c.60342C>T (p.Thr20114=)
|
rs529529087
|
0.00001
|
|
NM_001267550.2(TTN):c.6039T>G (p.Ile2013Met)
|
rs727504208
|
0.00001
|
|
NM_001267550.2(TTN):c.6043G>A (p.Ala2015Thr)
|
rs776534823
|
0.00001
|
|
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu)
|
rs771358314
|
0.00001
|
|
NM_001267550.2(TTN):c.60621T>C (p.Tyr20207=)
|
rs376959563
|
0.00001
|
|
NM_001267550.2(TTN):c.60627T>C (p.Val20209=)
|
rs767709742
|
0.00001
|
|
NM_001267550.2(TTN):c.60653C>T (p.Thr20218Met)
|
rs375155937
|
0.00001
|
|
NM_001267550.2(TTN):c.60672C>T (p.Ser20224=)
|
rs368680734
|
0.00001
|
|
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)
|
rs797044692
|
0.00001
|
|
NM_001267550.2(TTN):c.60707T>G (p.Leu20236Arg)
|
rs778953994
|
0.00001
|
|
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter)
|
rs1057522256
|
0.00001
|
|
NM_001267550.2(TTN):c.60816G>A (p.Pro20272=)
|
rs727504529
|
0.00001
|
|
NM_001267550.2(TTN):c.60934G>A (p.Glu20312Lys)
|
rs759127797
|
0.00001
|
|
NM_001267550.2(TTN):c.60944G>A (p.Gly20315Asp)
|
rs765839032
|
0.00001
|
|
NM_001267550.2(TTN):c.6094A>C (p.Arg2032=)
|
rs1322130237
|
0.00001
|
|
NM_001267550.2(TTN):c.61014A>G (p.Gly20338=)
|
rs757606739
|
0.00001
|
|
NM_001267550.2(TTN):c.61023T>C (p.Tyr20341=)
|
rs778959517
|
0.00001
|
|
NM_001267550.2(TTN):c.61041T>C (p.Ala20347=)
|
rs764447938
|
0.00001
|
|
NM_001267550.2(TTN):c.61073C>T (p.Pro20358Leu)
|
rs751194376
|
0.00001
|
|
NM_001267550.2(TTN):c.61075A>G (p.Ser20359Gly)
|
rs762408700
|
0.00001
|
|
NM_001267550.2(TTN):c.61104C>T (p.Pro20368=)
|
rs1269580775
|
0.00001
|
|
NM_001267550.2(TTN):c.61224G>A (p.Val20408=)
|
rs566188777
|
0.00001
|
|
NM_001267550.2(TTN):c.61284G>A (p.Arg20428=)
|
rs759762530
|
0.00001
|
|
NM_001267550.2(TTN):c.61287A>G (p.Gln20429=)
|
rs774375991
|
0.00001
|
|
NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser)
|
rs756873840
|
0.00001
|
|
NM_001267550.2(TTN):c.61461C>T (p.Thr20487=)
|
rs769161030
|
0.00001
|
|
NM_001267550.2(TTN):c.61476A>G (p.Gln20492=)
|
rs1158967560
|
0.00001
|
|
NM_001267550.2(TTN):c.61572C>T (p.Asp20524=)
|
rs776014619
|
0.00001
|
|
NM_001267550.2(TTN):c.61645A>G (p.Ile20549Val)
|
rs750680415
|
0.00001
|
|
NM_001267550.2(TTN):c.61674C>T (p.Ala20558=)
|
rs892095487
|
0.00001
|
|
NM_001267550.2(TTN):c.61689C>T (p.Ile20563=)
|
rs764640645
|
0.00001
|
|
NM_001267550.2(TTN):c.61706G>A (p.Arg20569Lys)
|
rs371014957
|
0.00001
|
|
NM_001267550.2(TTN):c.61740T>C (p.Asn20580=)
|
rs750575772
|
0.00001
|
|
NM_001267550.2(TTN):c.61788T>C (p.Asn20596=)
|
rs878912832
|
0.00001
|
|
NM_001267550.2(TTN):c.61813A>G (p.Ile20605Val)
|
rs759096564
|
0.00001
|
|
NM_001267550.2(TTN):c.61814T>C (p.Ile20605Thr)
|
rs140252432
|
0.00001
|
|
NM_001267550.2(TTN):c.61908T>C (p.Asn20636=)
|
rs2049830448
|
0.00001
|
|
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)
|
rs878854324
|
0.00001
|
|
NM_001267550.2(TTN):c.6192T>G (p.Phe2064Leu)
|
rs759437501
|
0.00001
|
|
NM_001267550.2(TTN):c.61962C>T (p.Ile20654=)
|
rs369710636
|
0.00001
|
|
NM_001267550.2(TTN):c.62057A>G (p.Tyr20686Cys)
|
rs755470129
|
0.00001
|
|
NM_001267550.2(TTN):c.62166C>T (p.Ser20722=)
|
rs750725073
|
0.00001
|
|
NM_001267550.2(TTN):c.62193C>T (p.Asp20731=)
|
rs1206611321
|
0.00001
|
|
NM_001267550.2(TTN):c.62214T>G (p.Ile20738Met)
|
rs1388003753
|
0.00001
|
|
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys)
|
rs562680371
|
0.00001
|
|
NM_001267550.2(TTN):c.62298A>G (p.Leu20766=)
|
rs368503103
|
0.00001
|
|
NM_001267550.2(TTN):c.62424del (p.Asp20808fs)
|
rs1250302805
|
0.00001
|
|
NM_001267550.2(TTN):c.6243C>T (p.Phe2081=)
|
rs770052197
|
0.00001
|
|
NM_001267550.2(TTN):c.62467C>T (p.Arg20823Cys)
|
rs779686013
|
0.00001
|
|
NM_001267550.2(TTN):c.62535G>A (p.Thr20845=)
|
rs377275061
|
0.00001
|
|
NM_001267550.2(TTN):c.62537C>T (p.Ala20846Val)
|
rs1060500518
|
0.00001
|
|
NM_001267550.2(TTN):c.62544C>T (p.Asn20848=)
|
rs771279862
|
0.00001
|
|
NM_001267550.2(TTN):c.62556T>C (p.Ser20852=)
|
rs1184480749
|
0.00001
|
|
NM_001267550.2(TTN):c.62565C>A (p.Ala20855=)
|
rs371253950
|
0.00001
|
|
NM_001267550.2(TTN):c.62602G>A (p.Val20868Met)
|
rs371004819
|
0.00001
|
|
NM_001267550.2(TTN):c.62644A>G (p.Thr20882Ala)
|
rs538308579
|
0.00001
|
|
NM_001267550.2(TTN):c.6267G>C (p.Val2089=)
|
rs1574648084
|
0.00001
|
|
NM_001267550.2(TTN):c.62696A>G (p.Tyr20899Cys)
|
rs564111693
|
0.00001
|
|
NM_001267550.2(TTN):c.62699T>C (p.Ile20900Thr)
|
rs770522021
|
0.00001
|
|
NM_001267550.2(TTN):c.62732G>C (p.Trp20911Ser)
|
rs1243863753
|
0.00001
|
|
NM_001267550.2(TTN):c.62772A>G (p.Thr20924=)
|
rs1336925839
|
0.00001
|
|
NM_001267550.2(TTN):c.62793A>C (p.Gly20931=)
|
rs373595937
|
0.00001
|
|
NM_001267550.2(TTN):c.62848A>G (p.Thr20950Ala)
|
rs748774963
|
0.00001
|
|
NM_001267550.2(TTN):c.6288C>T (p.His2096=)
|
rs756722556
|
0.00001
|
|
NM_001267550.2(TTN):c.62896C>T (p.Arg20966Cys)
|
rs767887086
|
0.00001
|
|
NM_001267550.2(TTN):c.62897G>A (p.Arg20966His)
|
rs1174185176
|
0.00001
|
|
NM_001267550.2(TTN):c.63025C>A (p.Arg21009=)
|
rs368452607
|
0.00001
|
|
NM_001267550.2(TTN):c.63060G>A (p.Glu21020=)
|
rs1391810054
|
0.00001
|
|
NM_001267550.2(TTN):c.63087C>T (p.Leu21029=)
|
rs753066420
|
0.00001
|
|
NM_001267550.2(TTN):c.63114C>A (p.Val21038=)
|
rs201642579
|
0.00001
|
|
NM_001267550.2(TTN):c.63135A>G (p.Gly21045=)
|
rs775306395
|
0.00001
|
|
NM_001267550.2(TTN):c.63168G>A (p.Val21056=)
|
rs900253685
|
0.00001
|
|
NM_001267550.2(TTN):c.63187+14G>C
|
rs755367599
|
0.00001
|
|
NM_001267550.2(TTN):c.63187+3A>C
|
rs948908180
|
0.00001
|
|
NM_001267550.2(TTN):c.63195T>C (p.Pro21065=)
|
rs1201338150
|
0.00001
|
|
NM_001267550.2(TTN):c.63198T>A (p.Gly21066=)
|
rs1176342734
|
0.00001
|
|
NM_001267550.2(TTN):c.63227C>T (p.Thr21076Ile)
|
rs972090108
|
0.00001
|
|
NM_001267550.2(TTN):c.63270T>C (p.Tyr21090=)
|
rs878991431
|
0.00001
|
|
NM_001267550.2(TTN):c.63332C>T (p.Ser21111Phe)
|
rs547033801
|
0.00001
|
|
NM_001267550.2(TTN):c.63370C>T (p.Gln21124Ter)
|
rs1341948399
|
0.00001
|
|
NM_001267550.2(TTN):c.63380G>A (p.Arg21127His)
|
rs201226615
|
0.00001
|
|
NM_001267550.2(TTN):c.63417G>A (p.Gln21139=)
|
rs1167463666
|
0.00001
|
|
NM_001267550.2(TTN):c.63501A>G (p.Glu21167=)
|
rs1320961781
|
0.00001
|
|
NM_001267550.2(TTN):c.63509-18C>A
|
rs761915660
|
0.00001
|
|
NM_001267550.2(TTN):c.63516G>A (p.Pro21172=)
|
rs372493799
|
0.00001
|
|
NM_001267550.2(TTN):c.63559A>G (p.Arg21187Gly)
|
rs368288863
|
0.00001
|
|
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter)
|
rs869312098
|
0.00001
|
|
NM_001267550.2(TTN):c.6358C>T (p.Arg2120Trp)
|
rs116158152
|
0.00001
|
|
NM_001267550.2(TTN):c.63606A>G (p.Pro21202=)
|
rs878905375
|
0.00001
|
|
NM_001267550.2(TTN):c.63699C>T (p.Ile21233=)
|
rs759722233
|
0.00001
|
|
NM_001267550.2(TTN):c.63906C>A (p.Ile21302=)
|
rs566830548
|
0.00001
|
|
NM_001267550.2(TTN):c.63906C>T (p.Ile21302=)
|
rs566830548
|
0.00001
|
|
NM_001267550.2(TTN):c.63921G>A (p.Glu21307=)
|
rs1466883677
|
0.00001
|
|
NM_001267550.2(TTN):c.63936A>G (p.Thr21312=)
|
rs1471912514
|
0.00001
|
|
NM_001267550.2(TTN):c.63941C>T (p.Ser21314Leu)
|
rs776468606
|
0.00001
|
|
NM_001267550.2(TTN):c.63972C>T (p.Ser21324=)
|
rs2049219255
|
0.00001
|
|
NM_001267550.2(TTN):c.63981A>G (p.Val21327=)
|
rs397517656
|
0.00001
|
|
NM_001267550.2(TTN):c.63984C>T (p.Thr21328=)
|
rs1215687824
|
0.00001
|
|
NM_001267550.2(TTN):c.64001A>G (p.Asn21334Ser)
|
rs753121509
|
0.00001
|
|
NM_001267550.2(TTN):c.64041C>A (p.Gly21347=)
|
rs760326387
|
0.00001
|
|
NM_001267550.2(TTN):c.6405A>G (p.Glu2135=)
|
rs545008484
|
0.00001
|
|
NM_001267550.2(TTN):c.6406T>C (p.Leu2136=)
|
rs765377738
|
0.00001
|
|
NM_001267550.2(TTN):c.64088C>G (p.Pro21363Arg)
|
rs781561933
|
0.00001
|
|
NM_001267550.2(TTN):c.64162T>C (p.Leu21388=)
|
rs1333849447
|
0.00001
|
|
NM_001267550.2(TTN):c.64171C>T (p.Leu21391=)
|
rs371009616
|
0.00001
|
|
NM_001267550.2(TTN):c.64185T>G (p.Gly21395=)
|
rs1041490202
|
0.00001
|
|
NM_001267550.2(TTN):c.64194C>T (p.Ile21398=)
|
rs756809018
|
0.00001
|
|
NM_001267550.2(TTN):c.64206C>T (p.Ile21402=)
|
rs752270069
|
0.00001
|
|
NM_001267550.2(TTN):c.64224A>G (p.Glu21408=)
|
rs370236860
|
0.00001
|
|
NM_001267550.2(TTN):c.6423G>A (p.Val2141=)
|
rs768989325
|
0.00001
|
|
NM_001267550.2(TTN):c.6432G>A (p.Glu2144=)
|
rs775967972
|
0.00001
|
|
NM_001267550.2(TTN):c.64374G>A (p.Val21458=)
|
rs747623526
|
0.00001
|
|
NM_001267550.2(TTN):c.64393C>T (p.Leu21465=)
|
rs1369120510
|
0.00001
|
|
NM_001267550.2(TTN):c.64443G>A (p.Gly21481=)
|
rs747850027
|
0.00001
|
|
NM_001267550.2(TTN):c.64453C>A (p.Arg21485=)
|
rs768345594
|
0.00001
|
|
NM_001267550.2(TTN):c.64587G>A (p.Val21529=)
|
rs1060503969
|
0.00001
|
|
NM_001267550.2(TTN):c.64615C>T (p.Leu21539Phe)
|
rs1060500431
|
0.00001
|
|
NM_001267550.2(TTN):c.64672+11T>C
|
rs752070307
|
0.00001
|
|
NM_001267550.2(TTN):c.64672+8A>G
|
rs1275501158
|
0.00001
|
|
NM_001267550.2(TTN):c.64673-4G>A
|
rs374608122
|
0.00001
|
|
NM_001267550.2(TTN):c.64673-9T>C
|
rs1370943867
|
0.00001
|
|
NM_001267550.2(TTN):c.64719C>T (p.Asp21573=)
|
rs727504967
|
0.00001
|
|
NM_001267550.2(TTN):c.64767C>G (p.Gly21589=)
|
rs1060503955
|
0.00001
|
|
NM_001267550.2(TTN):c.64773C>T (p.Asn21591=)
|
rs747049404
|
0.00001
|
|
NM_001267550.2(TTN):c.6477A>G (p.Glu2159=)
|
rs779874305
|
0.00001
|
|
NM_001267550.2(TTN):c.64785T>C (p.Tyr21595=)
|
rs751009684
|
0.00001
|
|
NM_001267550.2(TTN):c.64827G>A (p.Thr21609=)
|
rs377420188
|
0.00001
|
|
NM_001267550.2(TTN):c.64887G>C (p.Glu21629Asp)
|
rs779232091
|
0.00001
|
|
NM_001267550.2(TTN):c.64897C>T (p.Arg21633Trp)
|
rs749576292
|
0.00001
|
|
NM_001267550.2(TTN):c.64933C>T (p.Pro21645Ser)
|
rs1553632774
|
0.00001
|
|
NM_001267550.2(TTN):c.64968A>G (p.Pro21656=)
|
rs376921740
|
0.00001
|
|
NM_001267550.2(TTN):c.64989A>C (p.Pro21663=)
|
rs910020189
|
0.00001
|
|
NM_001267550.2(TTN):c.65001A>C (p.Arg21667=)
|
rs749850905
|
0.00001
|
|
NM_001267550.2(TTN):c.65022C>T (p.Asp21674=)
|
rs866763453
|
0.00001
|
|
NM_001267550.2(TTN):c.65028T>A (p.Ile21676=)
|
rs763970293
|
0.00001
|
|
NM_001267550.2(TTN):c.6508+1G>T
|
rs1373416532
|
0.00001
|
|
NM_001267550.2(TTN):c.6509-15A>G
|
rs1554004514
|
0.00001
|
|
NM_001267550.2(TTN):c.65115G>A (p.Leu21705=)
|
rs1449900594
|
0.00001
|
|
NM_001267550.2(TTN):c.65121G>A (p.Val21707=)
|
rs1176792613
|
0.00001
|
|
NM_001267550.2(TTN):c.65130T>C (p.Asn21710=)
|
rs752492828
|
0.00001
|
|
NM_001267550.2(TTN):c.65139T>C (p.Leu21713=)
|
rs959702630
|
0.00001
|
|
NM_001267550.2(TTN):c.65179G>A (p.Gly21727Ser)
|
rs756099303
|
0.00001
|
|
NM_001267550.2(TTN):c.65275+13G>T
|
rs727504999
|
0.00001
|
|
NM_001267550.2(TTN):c.65276-12T>C
|
rs753923234
|
0.00001
|
|
NM_001267550.2(TTN):c.65276-9T>G
|
rs764622661
|
0.00001
|
|
NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr)
|
rs727503580
|
0.00001
|
|
NM_001267550.2(TTN):c.65373C>T (p.Gly21791=)
|
rs905341036
|
0.00001
|
|
NM_001267550.2(TTN):c.65466T>C (p.Thr21822=)
|
rs761550395
|
0.00001
|
|
NM_001267550.2(TTN):c.65486A>G (p.Gln21829Arg)
|
rs886038921
|
0.00001
|
|
NM_001267550.2(TTN):c.65514C>T (p.Thr21838=)
|
rs372543748
|
0.00001
|
|
NM_001267550.2(TTN):c.65562C>T (p.Ile21854=)
|
rs1575958372
|
0.00001
|
|
NM_001267550.2(TTN):c.65565C>T (p.Leu21855=)
|
rs367880653
|
0.00001
|
|
NM_001267550.2(TTN):c.65576-8C>A
|
rs1274903683
|
0.00001
|
|
NM_001267550.2(TTN):c.65592C>T (p.Asp21864=)
|
rs2048168330
|
0.00001
|
|
NM_001267550.2(TTN):c.65598T>C (p.Ser21866=)
|
rs370897841
|
0.00001
|
|
NM_001267550.2(TTN):c.65673G>A (p.Pro21891=)
|
rs765142907
|
0.00001
|
|
NM_001267550.2(TTN):c.65706A>C (p.Thr21902=)
|
rs530580859
|
0.00001
|
|
NM_001267550.2(TTN):c.65709G>A (p.Leu21903=)
|
rs1026264406
|
0.00001
|
|
NM_001267550.2(TTN):c.65727C>T (p.Gly21909=)
|
rs1246746665
|
0.00001
|
|
NM_001267550.2(TTN):c.65748G>C (p.Arg21916=)
|
rs879000743
|
0.00001
|
|
NM_001267550.2(TTN):c.65760C>T (p.Thr21920=)
|
rs753720118
|
0.00001
|
|
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg)
|
rs373636513
|
0.00001
|
|
NM_001267550.2(TTN):c.65799C>T (p.Asp21933=)
|
rs370123011
|
0.00001
|
|
NM_001267550.2(TTN):c.65802T>C (p.Tyr21934=)
|
rs980406493
|
0.00001
|
|
NM_001267550.2(TTN):c.65850G>A (p.Lys21950=)
|
rs757863803
|
0.00001
|
|
NM_001267550.2(TTN):c.65863+17A>G
|
rs749904130
|
0.00001
|
|
NM_001267550.2(TTN):c.65863+18T>C
|
rs1157077323
|
0.00001
|
|
NM_001267550.2(TTN):c.65863+19T>C
|
rs1449469581
|
0.00001
|
|
NM_001267550.2(TTN):c.65871G>A (p.Pro21957=)
|
rs771651842
|
0.00001
|
|
NM_001267550.2(TTN):c.65937G>A (p.Pro21979=)
|
rs765734959
|
0.00001
|
|
NM_001267550.2(TTN):c.66021T>C (p.Ser22007=)
|
rs370252623
|
0.00001
|
|
NM_001267550.2(TTN):c.66048C>T (p.Ser22016=)
|
rs997612485
|
0.00001
|
|
NM_001267550.2(TTN):c.66067G>A (p.Gly22023Ser)
|
rs1060500452
|
0.00001
|
|
NM_001267550.2(TTN):c.66085C>T (p.Arg22029Cys)
|
rs769739080
|
0.00001
|
|
NM_001267550.2(TTN):c.6612A>T (p.Lys2204Asn)
|
rs1060500448
|
0.00001
|
|
NM_001267550.2(TTN):c.66160+2T>C
|
rs753146898
|
0.00001
|
|
NM_001267550.2(TTN):c.66160+7A>C
|
rs766083437
|
0.00001
|
|
NM_001267550.2(TTN):c.66160+8C>T
|
rs2047958013
|
0.00001
|
|
NM_001267550.2(TTN):c.66200T>C (p.Ile22067Thr)
|
rs368042545
|
0.00001
|
|
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp)
|
rs571093313
|
0.00001
|
|
NM_001267550.2(TTN):c.662T>C (p.Ile221Thr)
|
rs781543487
|
0.00001
|
|
NM_001267550.2(TTN):c.66300T>C (p.Val22100=)
|
rs1234198921
|
0.00001
|
|
NM_001267550.2(TTN):c.6630T>C (p.Asp2210=)
|
rs1234622480
|
0.00001
|
|
NM_001267550.2(TTN):c.66324A>G (p.Lys22108=)
|
rs1321492026
|
0.00001
|
|
NM_001267550.2(TTN):c.66357T>A (p.Gly22119=)
|
rs1471586274
|
0.00001
|
|
NM_001267550.2(TTN):c.66423C>T (p.Pro22141=)
|
rs1322620894
|
0.00001
|
|
NM_001267550.2(TTN):c.66441C>T (p.Ala22147=)
|
rs727503578
|
0.00001
|
|
NM_001267550.2(TTN):c.66450T>G (p.Ala22150=)
|
rs727504643
|
0.00001
|
|
NM_001267550.2(TTN):c.66452G>A (p.Arg22151Gln)
|
rs781750042
|
0.00001
|
|
NM_001267550.2(TTN):c.66463+10C>T
|
rs1216304664
|
0.00001
|
|
NM_001267550.2(TTN):c.66463+17G>A
|
rs202244470
|
0.00001
|
|
NM_001267550.2(TTN):c.66545A>G (p.Tyr22182Cys)
|
rs879016147
|
0.00001
|
|
NM_001267550.2(TTN):c.66552C>T (p.Gly22184=)
|
rs146502705
|
0.00001
|
|
NM_001267550.2(TTN):c.66628C>A (p.Gln22210Lys)
|
rs757047748
|
0.00001
|
|
NM_001267550.2(TTN):c.66668T>C (p.Met22223Thr)
|
rs752794705
|
0.00001
|
|
NM_001267550.2(TTN):c.66691C>T (p.Arg22231Cys)
|
rs760026147
|
0.00001
|
|
NM_001267550.2(TTN):c.66723T>G (p.Ser22241Arg)
|
rs778956602
|
0.00001
|
|
NM_001267550.2(TTN):c.6672T>C (p.Ser2224=)
|
rs777786677
|
0.00001
|
|
NM_001267550.2(TTN):c.66736G>A (p.Val22246Met)
|
rs1393150545
|
0.00001
|
|
NM_001267550.2(TTN):c.66766T>C (p.Leu22256=)
|
rs752922922
|
0.00001
|
|
NM_001267550.2(TTN):c.66769+15G>C
|
rs751656168
|
0.00001
|
|
NM_001267550.2(TTN):c.66769+4A>G
|
rs368682419
|
0.00001
|
|
NM_001267550.2(TTN):c.66770-10A>C
|
rs769421715
|
0.00001
|
|
NM_001267550.2(TTN):c.66770-6A>C
|
rs200373454
|
0.00001
|
|
NM_001267550.2(TTN):c.66780G>C (p.Glu22260Asp)
|
rs574543857
|
0.00001
|
|
NM_001267550.2(TTN):c.66786A>T (p.Glu22262Asp)
|
rs1022562370
|
0.00001
|
|
NM_001267550.2(TTN):c.6678A>G (p.Arg2226=)
|
rs906965623
|
0.00001
|
|
NM_001267550.2(TTN):c.66794C>T (p.Ala22265Val)
|
rs750836266
|
0.00001
|
|
NM_001267550.2(TTN):c.66795G>A (p.Ala22265=)
|
rs765777105
|
0.00001
|
|
NM_001267550.2(TTN):c.66820C>T (p.Arg22274Cys)
|
rs770627108
|
0.00001
|
|
NM_001267550.2(TTN):c.669+15T>C
|
rs369211975
|
0.00001
|
|
NM_001267550.2(TTN):c.6690C>T (p.Phe2230=)
|
rs755122338
|
0.00001
|
|
NM_001267550.2(TTN):c.66948C>T (p.Asp22316=)
|
rs775649360
|
0.00001
|
|
NM_001267550.2(TTN):c.66996T>C (p.Tyr22332=)
|
rs397517668
|
0.00001
|
|
NM_001267550.2(TTN):c.67001T>C (p.Leu22334Ser)
|
rs758106978
|
0.00001
|
|
NM_001267550.2(TTN):c.67005C>G (p.Thr22335=)
|
rs1206593826
|
0.00001
|
|
NM_001267550.2(TTN):c.67048A>C (p.Lys22350Gln)
|
rs1370592733
|
0.00001
|
|
NM_001267550.2(TTN):c.67118T>A (p.Val22373Asp)
|
rs774568339
|
0.00001
|
|
NM_001267550.2(TTN):c.67153C>T (p.Pro22385Ser)
|
rs781562260
|
0.00001
|
|
NM_001267550.2(TTN):c.67200C>T (p.Ser22400=)
|
rs1403129479
|
0.00001
|
|
NM_001267550.2(TTN):c.67208C>T (p.Thr22403Ile)
|
rs767363142
|
0.00001
|
|
NM_001267550.2(TTN):c.67212G>A (p.Val22404=)
|
rs977492019
|
0.00001
|
|
NM_001267550.2(TTN):c.67300T>A (p.Tyr22434Asn)
|
rs1553623044
|
0.00001
|
|
NM_001267550.2(TTN):c.67317C>T (p.Pro22439=)
|
rs747645787
|
0.00001
|
|
NM_001267550.2(TTN):c.67338C>T (p.Val22446=)
|
rs1246667885
|
0.00001
|
|
NM_001267550.2(TTN):c.67348+1G>A
|
rs758279518
|
0.00001
|
|
NM_001267550.2(TTN):c.67348+5G>A
|
rs765587170
|
0.00001
|
|
NM_001267550.2(TTN):c.67349-14C>A
|
rs757460062
|
0.00001
|
|
NM_001267550.2(TTN):c.67349-2A>C
|
rs753948675
|
0.00001
|
|
NM_001267550.2(TTN):c.67428C>T (p.His22476=)
|
rs772184456
|
0.00001
|
|
NM_001267550.2(TTN):c.67569G>A (p.Val22523=)
|
rs376719475
|
0.00001
|
|
NM_001267550.2(TTN):c.67636+2T>C
|
rs1575872984
|
0.00001
|
|
NM_001267550.2(TTN):c.67637-9A>G
|
rs2047164551
|
0.00001
|
|
NM_001267550.2(TTN):c.67681T>C (p.Leu22561=)
|
rs397517671
|
0.00001
|
|
NM_001267550.2(TTN):c.67692A>G (p.Glu22564=)
|
rs780239325
|
0.00001
|
|
NM_001267550.2(TTN):c.67743A>T (p.Ser22581=)
|
rs2047137031
|
0.00001
|
|
NM_001267550.2(TTN):c.67788A>G (p.Arg22596=)
|
rs1326950042
|
0.00001
|
|
NM_001267550.2(TTN):c.67827A>C (p.Ile22609=)
|
rs751153093
|
0.00001
|
|
NM_001267550.2(TTN):c.6790+13G>A
|
rs758773000
|
0.00001
|
|
NM_001267550.2(TTN):c.6791-11A>G
|
rs368202177
|
0.00001
|
|
NM_001267550.2(TTN):c.67914A>C (p.Ile22638=)
|
rs878934438
|
0.00001
|
|
NM_001267550.2(TTN):c.67923T>C (p.Val22641=)
|
rs759628511
|
0.00001
|
|
NM_001267550.2(TTN):c.67980C>T (p.Ala22660=)
|
rs756764696
|
0.00001
|
|
NM_001267550.2(TTN):c.67989A>T (p.Leu22663Phe)
|
rs1485610846
|
0.00001
|
|
NM_001267550.2(TTN):c.68010T>C (p.Asp22670=)
|
rs767755200
|
0.00001
|
|
NM_001267550.2(TTN):c.68040C>T (p.Ile22680=)
|
rs1422070023
|
0.00001
|
|
NM_001267550.2(TTN):c.68052G>A (p.Arg22684=)
|
rs770247697
|
0.00001
|
|
NM_001267550.2(TTN):c.68067C>T (p.Asn22689=)
|
rs777832243
|
0.00001
|
|
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met)
|
rs758700425
|
0.00001
|
|
NM_001267550.2(TTN):c.68142T>C (p.Tyr22714=)
|
rs377007499
|
0.00001
|
|
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=)
|
rs397517673
|
0.00001
|
|
NM_001267550.2(TTN):c.68181G>A (p.Gly22727=)
|
rs2047051742
|
0.00001
|
|
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)
|
rs727505352
|
0.00001
|
|
NM_001267550.2(TTN):c.68196G>A (p.Ser22732=)
|
rs397517674
|
0.00001
|
|
NM_001267550.2(TTN):c.68199G>A (p.Glu22733=)
|
rs375672522
|
0.00001
|
|
NM_001267550.2(TTN):c.68224+20A>G
|
rs753714710
|
0.00001
|
|
NM_001267550.2(TTN):c.68224+2T>C
|
rs1321711553
|
0.00001
|
|
NM_001267550.2(TTN):c.68224+3A>G
|
rs1006017098
|
0.00001
|
|
NM_001267550.2(TTN):c.68225-9T>A
|
rs780964424
|
0.00001
|
|
NM_001267550.2(TTN):c.68248C>T (p.Pro22750Ser)
|
rs764562311
|
0.00001
|
|
NM_001267550.2(TTN):c.68252A>G (p.Asn22751Ser)
|
rs761226149
|
0.00001
|
|
NM_001267550.2(TTN):c.68304G>A (p.Lys22768=)
|
rs776267206
|
0.00001
|
|
NM_001267550.2(TTN):c.68330-15C>T
|
rs752008027
|
0.00001
|
|
NM_001267550.2(TTN):c.68330-6T>C
|
rs761596321
|
0.00001
|
|
NM_001267550.2(TTN):c.68330-9C>G
|
rs764788146
|
0.00001
|
|
NM_001267550.2(TTN):c.68340C>T (p.Leu22780=)
|
rs763640690
|
0.00001
|
|
NM_001267550.2(TTN):c.68352A>G (p.Glu22784=)
|
rs772087782
|
0.00001
|
|
NM_001267550.2(TTN):c.6835C>G (p.Pro2279Ala)
|
rs143679901
|
0.00001
|
|
NM_001267550.2(TTN):c.68376A>G (p.Arg22792=)
|
rs2046863112
|
0.00001
|
|
NM_001267550.2(TTN):c.68388T>C (p.Thr22796=)
|
rs748254268
|
0.00001
|
|
NM_001267550.2(TTN):c.68415G>A (p.Val22805=)
|
rs766702408
|
0.00001
|
|
NM_001267550.2(TTN):c.6845A>C (p.Tyr2282Ser)
|
rs754307416
|
0.00001
|
|
NM_001267550.2(TTN):c.68460A>T (p.Ala22820=)
|
rs1308326501
|
0.00001
|
|
NM_001267550.2(TTN):c.68466T>C (p.Asn22822=)
|
rs2046840597
|
0.00001
|
|
NM_001267550.2(TTN):c.68527+1G>C
|
rs766984722
|
0.00001
|
|
NM_001267550.2(TTN):c.68528-8T>C
|
rs746223377
|
0.00001
|
|
NM_001267550.2(TTN):c.6864C>T (p.Cys2288=)
|
rs543264216
|
0.00001
|
|
NM_001267550.2(TTN):c.68678A>G (p.His22893Arg)
|
rs1039583705
|
0.00001
|
|
NM_001267550.2(TTN):c.68712T>C (p.Thr22904=)
|
rs397517678
|
0.00001
|
|
NM_001267550.2(TTN):c.68728G>A (p.Gly22910Arg)
|
rs794729245
|
0.00001
|
|
NM_001267550.2(TTN):c.68824+5G>C
|
rs749639627
|
0.00001
|
|
NM_001267550.2(TTN):c.68825-7T>A
|
rs767881914
|
0.00001
|
|
NM_001267550.2(TTN):c.68825-8C>G
|
rs934241905
|
0.00001
|
|
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs)
|
rs757603460
|
0.00001
|
|
NM_001267550.2(TTN):c.68904C>T (p.Ala22968=)
|
rs927987931
|
0.00001
|
|
NM_001267550.2(TTN):c.68961C>T (p.Asp22987=)
|
rs1407598197
|
0.00001
|
|
NM_001267550.2(TTN):c.68984A>C (p.Gln22995Pro)
|
rs879410317
|
0.00001
|
|
NM_001267550.2(TTN):c.68997C>A (p.Thr22999=)
|
rs369068922
|
0.00001
|
|
NM_001267550.2(TTN):c.69087G>A (p.Lys23029=)
|
rs879204119
|
0.00001
|
|
NM_001267550.2(TTN):c.69117T>C (p.Asp23039=)
|
rs727503572
|
0.00001
|
|
NM_001267550.2(TTN):c.69175C>T (p.Leu23059Phe)
|
rs1394979272
|
0.00001
|
|
NM_001267550.2(TTN):c.69333C>A (p.Ile23111=)
|
rs1274553766
|
0.00001
|
|
NM_001267550.2(TTN):c.69360T>C (p.Tyr23120=)
|
rs879015798
|
0.00001
|
|
NM_001267550.2(TTN):c.69379C>G (p.Gln23127Glu)
|
rs953796748
|
0.00001
|
|
NM_001267550.2(TTN):c.69420del (p.Gly23141fs)
|
rs1330960948
|
0.00001
|
|
NM_001267550.2(TTN):c.69423C>A (p.Gly23141=)
|
rs1362300563
|
0.00001
|
|
NM_001267550.2(TTN):c.69426T>C (p.Pro23142=)
|
rs1311190415
|
0.00001
|
|
NM_001267550.2(TTN):c.69474C>G (p.Val23158=)
|
rs1290297669
|
0.00001
|
|
NM_001267550.2(TTN):c.69486G>A (p.Arg23162=)
|
rs1055249165
|
0.00001
|
|
NM_001267550.2(TTN):c.69507C>T (p.Ser23169=)
|
rs763640597
|
0.00001
|
|
NM_001267550.2(TTN):c.69515C>T (p.Thr23172Ile)
|
rs752643010
|
0.00001
|
|
NM_001267550.2(TTN):c.69525T>C (p.His23175=)
|
rs774189877
|
0.00001
|
|
NM_001267550.2(TTN):c.69579A>G (p.Pro23193=)
|
rs878854329
|
0.00001
|
|
NM_001267550.2(TTN):c.69606A>C (p.Thr23202=)
|
rs1484321589
|
0.00001
|
|
NM_001267550.2(TTN):c.69630C>T (p.Tyr23210=)
|
rs777602537
|
0.00001
|
|
NM_001267550.2(TTN):c.69639T>C (p.Arg23213=)
|
rs1487392148
|
0.00001
|
|
NM_001267550.2(TTN):c.69708T>C (p.Asp23236=)
|
rs530173124
|
0.00001
|
|
NM_001267550.2(TTN):c.69715+8T>C
|
rs539199374
|
0.00001
|
|
NM_001267550.2(TTN):c.6979G>T (p.Asp2327Tyr)
|
rs1554002409
|
0.00001
|
|
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser)
|
rs758398301
|
0.00001
|
|
NM_001267550.2(TTN):c.69822C>T (p.Gly23274=)
|
rs757102551
|
0.00001
|
|
NM_001267550.2(TTN):c.69883G>A (p.Ala23295Thr)
|
rs746519147
|
0.00001
|
|
NM_001267550.2(TTN):c.69915T>C (p.Asp23305=)
|
rs376486631
|
0.00001
|
|
NM_001267550.2(TTN):c.69954C>T (p.Ala23318=)
|
rs1391755399
|
0.00001
|
|
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met)
|
rs540840413
|
0.00001
|
|
NM_001267550.2(TTN):c.70005C>T (p.Ile23335=)
|
rs541680047
|
0.00001
|
|
NM_001267550.2(TTN):c.70045G>A (p.Glu23349Lys)
|
rs397517682
|
0.00001
|
|
NM_001267550.2(TTN):c.70053A>G (p.Arg23351=)
|
rs777641437
|
0.00001
|
|
NM_001267550.2(TTN):c.70083T>C (p.Ser23361=)
|
rs766781496
|
0.00001
|
|
NM_001267550.2(TTN):c.7011C>T (p.Ser2337=)
|
rs748694772
|
0.00001
|
|
NM_001267550.2(TTN):c.70137C>T (p.Thr23379=)
|
rs770349910
|
0.00001
|
|
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met)
|
rs397517683
|
0.00001
|
|
NM_001267550.2(TTN):c.70182G>A (p.Thr23394=)
|
rs376989129
|
0.00001
|
|
NM_001267550.2(TTN):c.70224T>C (p.Tyr23408=)
|
rs908321623
|
0.00001
|
|
NM_001267550.2(TTN):c.70240G>T (p.Val23414Phe)
|
rs759158138
|
0.00001
|
|
NM_001267550.2(TTN):c.70243A>C (p.Met23415Leu)
|
rs200029470
|
0.00001
|
|
NM_001267550.2(TTN):c.70282G>T (p.Val23428Leu)
|
rs794729486
|
0.00001
|
|
NM_001267550.2(TTN):c.70326G>A (p.Leu23442=)
|
rs1468145399
|
0.00001
|
|
NM_001267550.2(TTN):c.70410C>T (p.Tyr23470=)
|
rs758189623
|
0.00001
|
|
NM_001267550.2(TTN):c.70455C>T (p.Ala23485=)
|
rs759693169
|
0.00001
|
|
NM_001267550.2(TTN):c.70533A>G (p.Ala23511=)
|
rs1253810679
|
0.00001
|
|
NM_001267550.2(TTN):c.70563A>G (p.Thr23521=)
|
rs373686744
|
0.00001
|
|
NM_001267550.2(TTN):c.70564G>A (p.Glu23522Lys)
|
rs561586925
|
0.00001
|
|
NM_001267550.2(TTN):c.70595C>T (p.Ala23532Val)
|
rs1389381134
|
0.00001
|
|
NM_001267550.2(TTN):c.70647C>T (p.Val23549=)
|
rs752532543
|
0.00001
|
|
NM_001267550.2(TTN):c.70656A>G (p.Ala23552=)
|
rs372399881
|
0.00001
|
|
NM_001267550.2(TTN):c.70665G>A (p.Lys23555=)
|
rs200320762
|
0.00001
|
|
NM_001267550.2(TTN):c.70674C>T (p.His23558=)
|
rs761993177
|
0.00001
|
|
NM_001267550.2(TTN):c.70752C>T (p.Thr23584=)
|
rs761787250
|
0.00001
|
|
NM_001267550.2(TTN):c.70753G>A (p.Val23585Met)
|
rs754040141
|
0.00001
|
|
NM_001267550.2(TTN):c.70758A>G (p.Lys23586=)
|
rs764276736
|
0.00001
|
|
NM_001267550.2(TTN):c.70785A>G (p.Leu23595=)
|
rs918782056
|
0.00001
|
|
NM_001267550.2(TTN):c.70863C>T (p.Pro23621=)
|
rs774842328
|
0.00001
|
|
NM_001267550.2(TTN):c.70982C>T (p.Pro23661Leu)
|
rs1060500459
|
0.00001
|
|
NM_001267550.2(TTN):c.71013C>T (p.Asp23671=)
|
rs531500249
|
0.00001
|
|
NM_001267550.2(TTN):c.71022T>C (p.Leu23674=)
|
rs201333699
|
0.00001
|
|
NM_001267550.2(TTN):c.71031A>G (p.Thr23677=)
|
rs749141184
|
0.00001
|
|
NM_001267550.2(TTN):c.71132T>C (p.Ile23711Thr)
|
rs752317656
|
0.00001
|
|
NM_001267550.2(TTN):c.71181A>G (p.Pro23727=)
|
rs748351899
|
0.00001
|
|
NM_001267550.2(TTN):c.71184G>A (p.Gly23728=)
|
rs1429918661
|
0.00001
|
|
NM_001267550.2(TTN):c.711T>G (p.Val237=)
|
rs751394557
|
0.00001
|
|
NM_001267550.2(TTN):c.71292G>A (p.Val23764=)
|
rs868217593
|
0.00001
|
|
NM_001267550.2(TTN):c.71319C>T (p.Thr23773=)
|
rs559204842
|
0.00001
|
|
NM_001267550.2(TTN):c.71340C>T (p.Thr23780=)
|
rs540210124
|
0.00001
|
|
NM_001267550.2(TTN):c.71347C>T (p.Arg23783Cys)
|
rs754516257
|
0.00001
|
|
NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys)
|
rs775743818
|
0.00001
|
|
NM_001267550.2(TTN):c.71421T>C (p.Tyr23807=)
|
rs745999472
|
0.00001
|
|
NM_001267550.2(TTN):c.71520G>A (p.Lys23840=)
|
rs750011261
|
0.00001
|
|
NM_001267550.2(TTN):c.71553T>A (p.Leu23851=)
|
rs373388052
|
0.00001
|
|
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)
|
rs777101912
|
0.00001
|
|
NM_001267550.2(TTN):c.71667T>C (p.Ser23889=)
|
rs756824434
|
0.00001
|
|
NM_001267550.2(TTN):c.71676A>T (p.Thr23892=)
|
rs1192063005
|
0.00001
|
|
NM_001267550.2(TTN):c.71729G>A (p.Ser23910Asn)
|
rs1060500509
|
0.00001
|
|
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)
|
rs374509926
|
0.00001
|
|
NM_001267550.2(TTN):c.71766G>A (p.Leu23922=)
|
rs778665872
|
0.00001
|
|
NM_001267550.2(TTN):c.7176C>T (p.Gly2392=)
|
rs780985946
|
0.00001
|
|
NM_001267550.2(TTN):c.71800C>T (p.Leu23934=)
|
rs1465413205
|
0.00001
|
|
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)
|
rs397517690
|
0.00001
|
|
NM_001267550.2(TTN):c.71908C>T (p.Arg23970Trp)
|
rs748041610
|
0.00001
|
|
NM_001267550.2(TTN):c.71946T>C (p.Asn23982=)
|
rs1575784666
|
0.00001
|
|
NM_001267550.2(TTN):c.72000C>T (p.Ile24000=)
|
rs776538231
|
0.00001
|
|
NM_001267550.2(TTN):c.72003C>T (p.Ala24001=)
|
rs1263740743
|
0.00001
|
|
NM_001267550.2(TTN):c.72090G>A (p.Lys24030=)
|
rs991071532
|
0.00001
|
|
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=)
|
rs397517691
|
0.00001
|
|
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His)
|
rs398124455
|
0.00001
|
|
NM_001267550.2(TTN):c.72198T>C (p.Asp24066=)
|
rs752014113
|
0.00001
|
|
NM_001267550.2(TTN):c.72231A>G (p.Glu24077=)
|
rs1423712037
|
0.00001
|
|
NM_001267550.2(TTN):c.72273T>C (p.Asp24091=)
|
rs1553609798
|
0.00001
|
|
NM_001267550.2(TTN):c.72363C>G (p.Asp24121Glu)
|
rs919790172
|
0.00001
|
|
NM_001267550.2(TTN):c.7239C>T (p.Leu2413=)
|
rs1574622425
|
0.00001
|
|
NM_001267550.2(TTN):c.72414A>G (p.Glu24138=)
|
rs1400378041
|
0.00001
|
|
NM_001267550.2(TTN):c.72426A>G (p.Leu24142=)
|
rs747483481
|
0.00001
|
|
NM_001267550.2(TTN):c.7246G>A (p.Asp2416Asn)
|
rs1383990376
|
0.00001
|
|
NM_001267550.2(TTN):c.72487C>T (p.Arg24163Cys)
|
rs778284888
|
0.00001
|
|
NM_001267550.2(TTN):c.724G>A (p.Asp242Asn)
|
rs1310304613
|
0.00001
|
|
NM_001267550.2(TTN):c.72615G>A (p.Val24205=)
|
rs754526723
|
0.00001
|
|
NM_001267550.2(TTN):c.72630A>G (p.Glu24210=)
|
rs1384344292
|
0.00001
|
|
NM_001267550.2(TTN):c.72663A>C (p.Gly24221=)
|
rs1300530218
|
0.00001
|
|
NM_001267550.2(TTN):c.72669del (p.Asp24224fs)
|
rs727504531
|
0.00001
|
|
NM_001267550.2(TTN):c.72690A>G (p.Glu24230=)
|
rs371032392
|
0.00001
|
|
NM_001267550.2(TTN):c.72713C>T (p.Ser24238Leu)
|
rs786205303
|
0.00001
|
|
NM_001267550.2(TTN):c.72714G>A (p.Ser24238=)
|
rs779663528
|
0.00001
|
|
NM_001267550.2(TTN):c.72774T>C (p.Ile24258=)
|
rs1057172488
|
0.00001
|
|
NM_001267550.2(TTN):c.72785G>A (p.Arg24262His)
|
rs372390659
|
0.00001
|
|
NM_001267550.2(TTN):c.72803G>A (p.Arg24268His)
|
rs140018785
|
0.00001
|
|
NM_001267550.2(TTN):c.72863C>G (p.Thr24288Arg)
|
rs878997916
|
0.00001
|
|
NM_001267550.2(TTN):c.72864A>G (p.Thr24288=)
|
rs879070035
|
0.00001
|
|
NM_001267550.2(TTN):c.72885C>T (p.Phe24295=)
|
rs958949797
|
0.00001
|
|
NM_001267550.2(TTN):c.72966T>C (p.Phe24322=)
|
rs1238110016
|
0.00001
|
|
NM_001267550.2(TTN):c.73021T>G (p.Ser24341Ala)
|
rs1397935154
|
0.00001
|
|
NM_001267550.2(TTN):c.73026C>T (p.Ile24342=)
|
rs750944951
|
0.00001
|
|
NM_001267550.2(TTN):c.73149G>A (p.Ser24383=)
|
rs564938876
|
0.00001
|
|
NM_001267550.2(TTN):c.73185T>C (p.Tyr24395=)
|
rs794729283
|
0.00001
|
|
NM_001267550.2(TTN):c.73212C>T (p.Ser24404=)
|
rs754332135
|
0.00001
|
|
NM_001267550.2(TTN):c.73224G>A (p.Gly24408=)
|
rs371034493
|
0.00001
|
|
NM_001267550.2(TTN):c.73258G>A (p.Glu24420Lys)
|
rs1265445775
|
0.00001
|
|
NM_001267550.2(TTN):c.73305C>T (p.Arg24435=)
|
rs1424616183
|
0.00001
|
|
NM_001267550.2(TTN):c.7331-8T>C
|
rs1481205499
|
0.00001
|
|
NM_001267550.2(TTN):c.73362A>C (p.Gly24454=)
|
rs749392350
|
0.00001
|
|
NM_001267550.2(TTN):c.73509T>C (p.Asn24503=)
|
rs536578166
|
0.00001
|
|
NM_001267550.2(TTN):c.73576C>T (p.Leu24526=)
|
rs1438772103
|
0.00001
|
|
NM_001267550.2(TTN):c.73590G>A (p.Glu24530=)
|
rs372089626
|
0.00001
|
|
NM_001267550.2(TTN):c.73605T>C (p.Ser24535=)
|
rs751252010
|
0.00001
|
|
NM_001267550.2(TTN):c.73638T>C (p.Asp24546=)
|
rs761939297
|
0.00001
|
|
NM_001267550.2(TTN):c.73695A>G (p.Ala24565=)
|
rs1358326550
|
0.00001
|
|
NM_001267550.2(TTN):c.73704T>A (p.Thr24568=)
|
rs1204498573
|
0.00001
|
|
NM_001267550.2(TTN):c.73746G>A (p.Gln24582=)
|
rs768752636
|
0.00001
|
|
NM_001267550.2(TTN):c.73782C>T (p.Leu24594=)
|
rs187307196
|
0.00001
|
|
NM_001267550.2(TTN):c.73797T>C (p.Tyr24599=)
|
rs751433631
|
0.00001
|
|
NM_001267550.2(TTN):c.73803T>C (p.Ile24601=)
|
rs780102184
|
0.00001
|
|
NM_001267550.2(TTN):c.73821C>T (p.Thr24607=)
|
rs1244080875
|
0.00001
|
|
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter)
|
rs794729284
|
0.00001
|
|
NM_001267550.2(TTN):c.73888A>G (p.Arg24630Gly)
|
rs573355547
|
0.00001
|
|
NM_001267550.2(TTN):c.73930G>A (p.Gly24644Arg)
|
rs1553606142
|
0.00001
|
|
NM_001267550.2(TTN):c.74028C>T (p.Ile24676=)
|
rs757040597
|
0.00001
|
|
NM_001267550.2(TTN):c.74055C>T (p.Tyr24685=)
|
rs763563305
|
0.00001
|
|
NM_001267550.2(TTN):c.74124C>A (p.Ile24708=)
|
rs758928659
|
0.00001
|
|
NM_001267550.2(TTN):c.74144C>T (p.Pro24715Leu)
|
rs55713856
|
0.00001
|
|
NM_001267550.2(TTN):c.74161C>T (p.Leu24721=)
|
rs770457900
|
0.00001
|
|
NM_001267550.2(TTN):c.74189G>A (p.Gly24730Asp)
|
rs781046518
|
0.00001
|
|
NM_001267550.2(TTN):c.74224C>T (p.Arg24742Cys)
|
rs369489704
|
0.00001
|
|
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=)
|
rs368530092
|
0.00001
|
|
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln)
|
rs776673912
|
0.00001
|
|
NM_001267550.2(TTN):c.74412C>T (p.Ile24804=)
|
rs531223049
|
0.00001
|
|
NM_001267550.2(TTN):c.74482C>G (p.Leu24828Val)
|
rs375181431
|
0.00001
|
|
NM_001267550.2(TTN):c.74505T>C (p.Tyr24835=)
|
rs767447882
|
0.00001
|
|
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)
|
rs373527654
|
0.00001
|
|
NM_001267550.2(TTN):c.74562C>T (p.Thr24854=)
|
rs767193647
|
0.00001
|
|
NM_001267550.2(TTN):c.74613C>T (p.Cys24871=)
|
rs747477017
|
0.00001
|
|
NM_001267550.2(TTN):c.7468C>T (p.Arg2490Cys)
|
rs200131545
|
0.00001
|
|
NM_001267550.2(TTN):c.74763C>T (p.Ser24921=)
|
rs371563258
|
0.00001
|
|
NM_001267550.2(TTN):c.74769C>T (p.Asp24923=)
|
rs772359226
|
0.00001
|
|
NM_001267550.2(TTN):c.74860C>T (p.Leu24954Phe)
|
rs202191466
|
0.00001
|
|
NM_001267550.2(TTN):c.74901G>A (p.Lys24967=)
|
rs746943691
|
0.00001
|
|
NM_001267550.2(TTN):c.74943T>C (p.Phe24981=)
|
rs1575744134
|
0.00001
|
|
NM_001267550.2(TTN):c.74965G>A (p.Val24989Met)
|
rs567800207
|
0.00001
|
|
NM_001267550.2(TTN):c.74982G>A (p.Pro24994=)
|
rs375232524
|
0.00001
|
|
NM_001267550.2(TTN):c.75016C>T (p.Pro25006Ser)
|
rs1264279589
|
0.00001
|
|
NM_001267550.2(TTN):c.7502G>A (p.Arg2501Gln)
|
rs369559000
|
0.00001
|
|
NM_001267550.2(TTN):c.75051T>C (p.Ile25017=)
|
rs1409342182
|
0.00001
|
|
NM_001267550.2(TTN):c.75054C>G (p.Val25018=)
|
rs1327022068
|
0.00001
|
|
NM_001267550.2(TTN):c.75057A>G (p.Thr25019=)
|
rs778646316
|
0.00001
|
|
NM_001267550.2(TTN):c.750A>G (p.Pro250=)
|
rs1227298156
|
0.00001
|
|
NM_001267550.2(TTN):c.75142T>C (p.Leu25048=)
|
rs1034492140
|
0.00001
|
|
NM_001267550.2(TTN):c.75155G>A (p.Arg25052His)
|
rs542720402
|
0.00001
|
|
NM_001267550.2(TTN):c.7516C>G (p.Arg2506Gly)
|
rs780415493
|
0.00001
|
|
NM_001267550.2(TTN):c.75231T>C (p.Tyr25077=)
|
rs750699540
|
0.00001
|
|
NM_001267550.2(TTN):c.75238C>T (p.Arg25080Trp)
|
rs1370877041
|
0.00001
|
|
NM_001267550.2(TTN):c.75258C>T (p.Ala25086=)
|
rs577554705
|
0.00001
|
|
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=)
|
rs189187431
|
0.00001
|
|
NM_001267550.2(TTN):c.7534G>A (p.Glu2512Lys)
|
rs116049561
|
0.00001
|
|
NM_001267550.2(TTN):c.75363C>T (p.Ile25121=)
|
rs765944912
|
0.00001
|
|
NM_001267550.2(TTN):c.75366G>A (p.Val25122=)
|
rs750424357
|
0.00001
|
|
NM_001267550.2(TTN):c.75378T>A (p.Gly25126=)
|
rs886055246
|
0.00001
|
|
NM_001267550.2(TTN):c.75408T>C (p.Tyr25136=)
|
rs769484085
|
0.00001
|
|
NM_001267550.2(TTN):c.75519T>C (p.Asp25173=)
|
rs1707836839
|
0.00001
|
|
NM_001267550.2(TTN):c.75696T>C (p.Asp25232=)
|
rs199935312
|
0.00001
|
|
NM_001267550.2(TTN):c.75816C>T (p.Gly25272=)
|
rs770708534
|
0.00001
|
|
NM_001267550.2(TTN):c.75873T>C (p.Leu25291=)
|
rs758634214
|
0.00001
|
|
NM_001267550.2(TTN):c.75934G>A (p.Glu25312Lys)
|
rs770655678
|
0.00001
|
|
NM_001267550.2(TTN):c.7594+19A>G
|
rs1035017342
|
0.00001
|
|
NM_001267550.2(TTN):c.7595-7T>C
|
rs754250448
|
0.00001
|
|
NM_001267550.2(TTN):c.75982C>A (p.Pro25328Thr)
|
rs201776072
|
0.00001
|
|
NM_001267550.2(TTN):c.7600A>G (p.Lys2534Glu)
|
rs767167863
|
0.00001
|
|
NM_001267550.2(TTN):c.76030C>T (p.Arg25344Trp)
|
rs371696090
|
0.00001
|
|
NM_001267550.2(TTN):c.76064A>G (p.His25355Arg)
|
rs1399292028
|
0.00001
|
|
NM_001267550.2(TTN):c.76087C>T (p.Arg25363Cys)
|
rs757511354
|
0.00001
|
|
NM_001267550.2(TTN):c.76119C>T (p.His25373=)
|
rs764739209
|
0.00001
|
|
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe)
|
rs374494927
|
0.00001
|
|
NM_001267550.2(TTN):c.76168C>T (p.Pro25390Ser)
|
rs878948198
|
0.00001
|
|
NM_001267550.2(TTN):c.76200T>C (p.Cys25400=)
|
rs397517705
|
0.00001
|
|
NM_001267550.2(TTN):c.76238A>G (p.Lys25413Arg)
|
rs367696053
|
0.00001
|
|
NM_001267550.2(TTN):c.76374A>G (p.Pro25458=)
|
rs891629905
|
0.00001
|
|
NM_001267550.2(TTN):c.76374A>T (p.Pro25458=)
|
rs891629905
|
0.00001
|
|
NM_001267550.2(TTN):c.76386T>C (p.Asn25462=)
|
rs747509537
|
0.00001
|
|
NM_001267550.2(TTN):c.76401A>G (p.Glu25467=)
|
rs369018558
|
0.00001
|
|
NM_001267550.2(TTN):c.76428A>G (p.Glu25476=)
|
rs777465940
|
0.00001
|
|
NM_001267550.2(TTN):c.76431C>T (p.Tyr25477=)
|
rs755746437
|
0.00001
|
|
NM_001267550.2(TTN):c.76483G>A (p.Val25495Ile)
|
rs773127796
|
0.00001
|
|
NM_001267550.2(TTN):c.76541T>C (p.Leu25514Pro)
|
rs1553601755
|
0.00001
|
|
NM_001267550.2(TTN):c.76556T>C (p.Ile25519Thr)
|
rs376185524
|
0.00001
|
|
NM_001267550.2(TTN):c.76577G>A (p.Gly25526Asp)
|
rs369344156
|
0.00001
|
|
NM_001267550.2(TTN):c.76641G>A (p.Val25547=)
|
rs1366393800
|
0.00001
|
|
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)
|
rs545954490
|
0.00001
|
|
NM_001267550.2(TTN):c.76672G>T (p.Asp25558Tyr)
|
rs750336110
|
0.00001
|
|
NM_001267550.2(TTN):c.76779T>C (p.Phe25593=)
|
rs1707263407
|
0.00001
|
|
NM_001267550.2(TTN):c.76809T>C (p.Ser25603=)
|
rs371140114
|
0.00001
|
|
NM_001267550.2(TTN):c.76889G>T (p.Gly25630Val)
|
rs760386525
|
0.00001
|
|
NM_001267550.2(TTN):c.76933A>C (p.Arg25645=)
|
rs1295081106
|
0.00001
|
|
NM_001267550.2(TTN):c.76944T>C (p.Tyr25648=)
|
rs1160047014
|
0.00001
|
|
NM_001267550.2(TTN):c.76952T>C (p.Val25651Ala)
|
rs370768049
|
0.00001
|
|
NM_001267550.2(TTN):c.76962C>G (p.Asn25654Lys)
|
rs755800765
|
0.00001
|
|
NM_001267550.2(TTN):c.76986C>T (p.Ile25662=)
|
rs751678747
|
0.00001
|
|
NM_001267550.2(TTN):c.77037T>C (p.Asn25679=)
|
rs372800320
|
0.00001
|
|
NM_001267550.2(TTN):c.77049T>G (p.Ile25683Met)
|
rs755225678
|
0.00001
|
|
NM_001267550.2(TTN):c.77091A>G (p.Glu25697=)
|
rs1427670072
|
0.00001
|
|
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs)
|
rs1205409465
|
0.00001
|
|
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=)
|
rs757252494
|
0.00001
|
|
NM_001267550.2(TTN):c.77188A>G (p.Ile25730Val)
|
rs745981754
|
0.00001
|
|
NM_001267550.2(TTN):c.77256G>A (p.Lys25752=)
|
rs1328743149
|
0.00001
|
|
NM_001267550.2(TTN):c.77259T>C (p.Ser25753=)
|
rs1230272856
|
0.00001
|
|
NM_001267550.2(TTN):c.77295A>G (p.Glu25765=)
|
rs879121881
|
0.00001
|
|
NM_001267550.2(TTN):c.77382G>A (p.Leu25794=)
|
rs1553599772
|
0.00001
|
|
NM_001267550.2(TTN):c.77406T>A (p.Pro25802=)
|
rs760571970
|
0.00001
|
|
NM_001267550.2(TTN):c.77510C>T (p.Pro25837Leu)
|
rs752618930
|
0.00001
|
|
NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met)
|
rs556000493
|
0.00001
|
|
NM_001267550.2(TTN):c.77604T>C (p.Tyr25868=)
|
rs752137856
|
0.00001
|
|
NM_001267550.2(TTN):c.77623G>A (p.Val25875Ile)
|
rs763284241
|
0.00001
|
|
NM_001267550.2(TTN):c.77649C>T (p.Ile25883=)
|
rs747430905
|
0.00001
|
|
NM_001267550.2(TTN):c.77679T>A (p.Pro25893=)
|
rs754965979
|
0.00001
|
|
NM_001267550.2(TTN):c.77781T>G (p.Ile25927Met)
|
rs1226545466
|
0.00001
|
|
NM_001267550.2(TTN):c.7779T>C (p.Asn2593=)
|
rs776560501
|
0.00001
|
|
NM_001267550.2(TTN):c.77811A>G (p.Val25937=)
|
rs1706741321
|
0.00001
|
|
NM_001267550.2(TTN):c.77821G>A (p.Val25941Ile)
|
rs928158833
|
0.00001
|
|
NM_001267550.2(TTN):c.77838T>C (p.Ala25946=)
|
rs760001425
|
0.00001
|
|
NM_001267550.2(TTN):c.77863C>T (p.Leu25955=)
|
rs1243165726
|
0.00001
|
|
NM_001267550.2(TTN):c.77901C>T (p.Ala25967=)
|
rs531679006
|
0.00001
|
|
NM_001267550.2(TTN):c.78000A>G (p.Thr26000=)
|
rs1178033234
|
0.00001
|
|
NM_001267550.2(TTN):c.78051T>C (p.Asn26017=)
|
rs758905508
|
0.00001
|
|
NM_001267550.2(TTN):c.78138T>C (p.His26046=)
|
rs896653681
|
0.00001
|
|
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
|
NM_001267550.2(TTN):c.7818G>A (p.Ala2606=)
|
rs935809232
|
0.00001
|
|
NM_001267550.2(TTN):c.78213T>C (p.Val26071=)
|
rs879161666
|
0.00001
|
|
NM_001267550.2(TTN):c.78231C>A (p.Ser26077Arg)
|
rs1553596375
|
0.00001
|
|
NM_001267550.2(TTN):c.78270C>T (p.Asp26090=)
|
rs1048653371
|
0.00001
|
|
NM_001267550.2(TTN):c.78276A>G (p.Pro26092=)
|
rs779618019
|
0.00001
|
|
NM_001267550.2(TTN):c.78345T>C (p.Asp26115=)
|
rs1366813483
|
0.00001
|
|
NM_001267550.2(TTN):c.78369C>T (p.Tyr26123=)
|
rs1267698127
|
0.00001
|
|
NM_001267550.2(TTN):c.78372T>C (p.Ile26124=)
|
rs886044461
|
0.00001
|
|
NM_001267550.2(TTN):c.78462T>C (p.Thr26154=)
|
rs1359190189
|
0.00001
|
|
NM_001267550.2(TTN):c.78504A>C (p.Ala26168=)
|
rs1185661073
|
0.00001
|
|
NM_001267550.2(TTN):c.7855+11T>G
|
rs750091311
|
0.00001
|
|
NM_001267550.2(TTN):c.78577A>C (p.Ile26193Leu)
|
rs727505241
|
0.00001
|
|
NM_001267550.2(TTN):c.78654T>C (p.His26218=)
|
rs886055244
|
0.00001
|
|
NM_001267550.2(TTN):c.78810T>C (p.Asn26270=)
|
rs1301545890
|
0.00001
|
|
NM_001267550.2(TTN):c.78921A>G (p.Thr26307=)
|
rs761130018
|
0.00001
|
|
NM_001267550.2(TTN):c.78942T>C (p.Asp26314=)
|
rs560223850
|
0.00001
|
|
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter)
|
rs1419374180
|
0.00001
|
|
NM_001267550.2(TTN):c.79005T>C (p.Thr26335=)
|
rs1575691834
|
0.00001
|
|
NM_001267550.2(TTN):c.7902C>T (p.Ser2634=)
|
rs1553997365
|
0.00001
|
|
NM_001267550.2(TTN):c.79068A>G (p.Glu26356=)
|
rs375454098
|
0.00001
|
|
NM_001267550.2(TTN):c.79122A>G (p.Glu26374=)
|
rs727504497
|
0.00001
|
|
NM_001267550.2(TTN):c.79145A>C (p.Asn26382Thr)
|
rs727505049
|
0.00001
|
|
NM_001267550.2(TTN):c.79264A>G (p.Ile26422Val)
|
rs1553590996
|
0.00001
|
|
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met)
|
rs1380054566
|
0.00001
|
|
NM_001267550.2(TTN):c.79368G>A (p.Glu26456=)
|
rs759135684
|
0.00001
|
|
NM_001267550.2(TTN):c.79416A>G (p.Pro26472=)
|
rs1173305141
|
0.00001
|
|
NM_001267550.2(TTN):c.79518T>C (p.Leu26506=)
|
rs367608273
|
0.00001
|
|
NM_001267550.2(TTN):c.79527T>C (p.Gly26509=)
|
rs919657135
|
0.00001
|
|
NM_001267550.2(TTN):c.7952_7953dup (p.Trp2652fs)
|
rs1340562376
|
0.00001
|
|
NM_001267550.2(TTN):c.79557C>A (p.Ile26519=)
|
rs1286599929
|
0.00001
|
|
NM_001267550.2(TTN):c.79596A>G (p.Glu26532=)
|
rs1553588874
|
0.00001
|
|
NM_001267550.2(TTN):c.795C>T (p.Ser265=)
|
rs780802517
|
0.00001
|
|
NM_001267550.2(TTN):c.7962G>A (p.Arg2654=)
|
rs1422023102
|
0.00001
|
|
NM_001267550.2(TTN):c.79636A>G (p.Thr26546Ala)
|
rs775053902
|
0.00001
|
|
NM_001267550.2(TTN):c.79640G>A (p.Arg26547Gln)
|
rs771534555
|
0.00001
|
|
NM_001267550.2(TTN):c.79686A>C (p.Arg26562=)
|
rs566765001
|
0.00001
|
|
NM_001267550.2(TTN):c.79728A>C (p.Ser26576=)
|
rs760955443
|
0.00001
|
|
NM_001267550.2(TTN):c.79755T>C (p.Asp26585=)
|
rs1189927516
|
0.00001
|
|
NM_001267550.2(TTN):c.79768C>T (p.Pro26590Ser)
|
rs767838835
|
0.00001
|
|
NM_001267550.2(TTN):c.79818T>A (p.Ala26606=)
|
rs1353783761
|
0.00001
|
|
NM_001267550.2(TTN):c.79882C>T (p.Arg26628Ter)
|
rs1373472758
|
0.00001
|
|
NM_001267550.2(TTN):c.79917T>A (p.Ile26639=)
|
rs1705776785
|
0.00001
|
|
NM_001267550.2(TTN):c.79944A>T (p.Leu26648=)
|
rs72648209
|
0.00001
|
|
NM_001267550.2(TTN):c.80019T>G (p.Ser26673=)
|
rs1347649738
|
0.00001
|
|
NM_001267550.2(TTN):c.80055A>T (p.Gly26685=)
|
rs1412677806
|
0.00001
|
|
NM_001267550.2(TTN):c.8013C>A (p.Gly2671=)
|
rs369439944
|
0.00001
|
|
NM_001267550.2(TTN):c.80145C>G (p.Val26715=)
|
rs761074887
|
0.00001
|
|
NM_001267550.2(TTN):c.80170G>A (p.Glu26724Lys)
|
rs367812761
|
0.00001
|
|
NM_001267550.2(TTN):c.80190T>C (p.Tyr26730=)
|
rs1060503950
|
0.00001
|
|
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr)
|
rs368263400
|
0.00001
|
|
NM_001267550.2(TTN):c.80301T>C (p.Val26767=)
|
rs374305386
|
0.00001
|
|
NM_001267550.2(TTN):c.80334T>C (p.Ala26778=)
|
rs768739882
|
0.00001
|
|
NM_001267550.2(TTN):c.80391A>C (p.Ala26797=)
|
rs756584357
|
0.00001
|
|
NM_001267550.2(TTN):c.80399T>C (p.Met26800Thr)
|
rs761384994
|
0.00001
|
|
NM_001267550.2(TTN):c.80445C>T (p.Tyr26815=)
|
rs759414143
|
0.00001
|
|
NM_001267550.2(TTN):c.80508T>C (p.Cys26836=)
|
rs756970012
|
0.00001
|
|
NM_001267550.2(TTN):c.80542G>C (p.Glu26848Gln)
|
rs898433512
|
0.00001
|
|
NM_001267550.2(TTN):c.80568T>C (p.Tyr26856=)
|
rs769878576
|
0.00001
|
|
NM_001267550.2(TTN):c.80704C>T (p.Pro26902Ser)
|
rs1024262797
|
0.00001
|
|
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter)
|
rs727505284
|
0.00001
|
|
NM_001267550.2(TTN):c.80726C>T (p.Pro26909Leu)
|
rs1553581878
|
0.00001
|
|
NM_001267550.2(TTN):c.80730C>T (p.Asn26910=)
|
rs1329763047
|
0.00001
|
|
NM_001267550.2(TTN):c.8073C>T (p.Tyr2691=)
|
rs1204725250
|
0.00001
|
|
NM_001267550.2(TTN):c.80781C>T (p.Asn26927=)
|
rs747688310
|
0.00001
|
|
NM_001267550.2(TTN):c.80782G>A (p.Val26928Ile)
|
rs780885076
|
0.00001
|
|
NM_001267550.2(TTN):c.80809T>C (p.Leu26937=)
|
rs1291471382
|
0.00001
|
|
NM_001267550.2(TTN):c.80817T>C (p.Ile26939=)
|
rs758285371
|
0.00001
|
|
NM_001267550.2(TTN):c.80826T>G (p.Gly26942=)
|
rs764386833
|
0.00001
|
|
NM_001267550.2(TTN):c.80841T>C (p.Phe26947=)
|
rs1015506783
|
0.00001
|
|
NM_001267550.2(TTN):c.80871T>C (p.Ser26957=)
|
rs1486693320
|
0.00001
|
|
NM_001267550.2(TTN):c.80904C>T (p.Ile26968=)
|
rs539234338
|
0.00001
|
|
NM_001267550.2(TTN):c.8095T>G (p.Ser2699Ala)
|
rs373857878
|
0.00001
|
|
NM_001267550.2(TTN):c.81009C>T (p.Cys27003=)
|
rs1271620983
|
0.00001
|
|
NM_001267550.2(TTN):c.81045A>G (p.Thr27015=)
|
rs771728186
|
0.00001
|
|
NM_001267550.2(TTN):c.81078A>C (p.Thr27026=)
|
rs1331313267
|
0.00001
|
|
NM_001267550.2(TTN):c.81094A>G (p.Ile27032Val)
|
rs369908251
|
0.00001
|
|
NM_001267550.2(TTN):c.81168T>C (p.Ser27056=)
|
rs767101518
|
0.00001
|
|
NM_001267550.2(TTN):c.8117-9T>C
|
rs777900623
|
0.00001
|
|
NM_001267550.2(TTN):c.81321C>T (p.Tyr27107=)
|
rs557312035
|
0.00001
|
|
NM_001267550.2(TTN):c.81347G>A (p.Ser27116Asn)
|
rs1234317183
|
0.00001
|
|
NM_001267550.2(TTN):c.81369T>C (p.Asn27123=)
|
rs1421636845
|
0.00001
|
|
NM_001267550.2(TTN):c.81375C>T (p.Thr27125=)
|
rs1705054731
|
0.00001
|
|
NM_001267550.2(TTN):c.81384G>A (p.Gln27128=)
|
rs377058846
|
0.00001
|
|
NM_001267550.2(TTN):c.81511T>C (p.Cys27171Arg)
|
rs727504678
|
0.00001
|
|
NM_001267550.2(TTN):c.81615T>C (p.Tyr27205=)
|
rs1486785221
|
0.00001
|
|
NM_001267550.2(TTN):c.81653T>C (p.Met27218Thr)
|
rs1332904652
|
0.00001
|
|
NM_001267550.2(TTN):c.81723T>C (p.Tyr27241=)
|
rs769821404
|
0.00001
|
|
NM_001267550.2(TTN):c.81777T>C (p.Asp27259=)
|
rs1438778988
|
0.00001
|
|
NM_001267550.2(TTN):c.81792T>C (p.Ile27264=)
|
rs754850872
|
0.00001
|
|
NM_001267550.2(TTN):c.81948T>C (p.Leu27316=)
|
rs886039026
|
0.00001
|
|
NM_001267550.2(TTN):c.82019T>A (p.Ile27340Lys)
|
rs371592971
|
0.00001
|
|
NM_001267550.2(TTN):c.82060G>A (p.Val27354Ile)
|
rs878854336
|
0.00001
|
|
NM_001267550.2(TTN):c.82064G>A (p.Gly27355Asp)
|
rs1474733241
|
0.00001
|
|
NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg)
|
rs754175266
|
0.00001
|
|
NM_001267550.2(TTN):c.82077T>G (p.Ser27359=)
|
rs1422013634
|
0.00001
|
|
NM_001267550.2(TTN):c.82106G>A (p.Arg27369Lys)
|
rs774715672
|
0.00001
|
|
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter)
|
rs766840243
|
0.00001
|
|
NM_001267550.2(TTN):c.82359A>C (p.Gly27453=)
|
rs1378227360
|
0.00001
|
|
NM_001267550.2(TTN):c.82386G>A (p.Thr27462=)
|
rs773950138
|
0.00001
|
|
NM_001267550.2(TTN):c.82448A>G (p.Lys27483Arg)
|
rs937111656
|
0.00001
|
|
NM_001267550.2(TTN):c.82457T>C (p.Met27486Thr)
|
rs746435098
|
0.00001
|
|
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)
|
rs1575649368
|
0.00001
|
|
NM_001267550.2(TTN):c.82539C>T (p.Gly27513=)
|
rs775673876
|
0.00001
|
|
NM_001267550.2(TTN):c.82542T>C (p.Val27514=)
|
rs779510131
|
0.00001
|
|
NM_001267550.2(TTN):c.82561A>G (p.Lys27521Glu)
|
rs1060500417
|
0.00001
|
|
NM_001267550.2(TTN):c.82587C>T (p.Leu27529=)
|
rs761584941
|
0.00001
|
|
NM_001267550.2(TTN):c.82616C>G (p.Ser27539Cys)
|
rs727503556
|
0.00001
|
|
NM_001267550.2(TTN):c.82626C>T (p.Phe27542=)
|
rs778332673
|
0.00001
|
|
NM_001267550.2(TTN):c.82641A>G (p.Glu27547=)
|
rs372153745
|
0.00001
|
|
NM_001267550.2(TTN):c.82710A>G (p.Pro27570=)
|
rs770975467
|
0.00001
|
|
NM_001267550.2(TTN):c.82746T>C (p.Thr27582=)
|
rs950891059
|
0.00001
|
|
NM_001267550.2(TTN):c.82764C>T (p.Ser27588=)
|
rs1444219267
|
0.00001
|
|
NM_001267550.2(TTN):c.8292G>A (p.Leu2764=)
|
rs727503687
|
0.00001
|
|
NM_001267550.2(TTN):c.82934G>A (p.Arg27645His)
|
rs766522109
|
0.00001
|
|
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr)
|
rs769343491
|
0.00001
|
|
NM_001267550.2(TTN):c.83049G>A (p.Lys27683=)
|
rs373522006
|
0.00001
|
|
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs)
|
rs794729351
|
0.00001
|
|
NM_001267550.2(TTN):c.83082C>T (p.Arg27694=)
|
rs1250189831
|
0.00001
|
|
NM_001267550.2(TTN):c.83105G>A (p.Arg27702Gln)
|
rs776136653
|
0.00001
|
|
NM_001267550.2(TTN):c.83139A>G (p.Glu27713=)
|
rs779302196
|
0.00001
|
|
NM_001267550.2(TTN):c.83218G>A (p.Asp27740Asn)
|
rs776130801
|
0.00001
|
|
NM_001267550.2(TTN):c.83227C>T (p.Arg27743Trp)
|
rs1185542536
|
0.00001
|
|
NM_001267550.2(TTN):c.83228G>A (p.Arg27743Gln)
|
rs768262273
|
0.00001
|
|
NM_001267550.2(TTN):c.83252A>G (p.Asn27751Ser)
|
rs775527437
|
0.00001
|
|
NM_001267550.2(TTN):c.83253T>C (p.Asn27751=)
|
rs772084217
|
0.00001
|
|
NM_001267550.2(TTN):c.83277T>C (p.Val27759=)
|
rs1341739001
|
0.00001
|
|
NM_001267550.2(TTN):c.83343C>T (p.Asp27781=)
|
rs878945174
|
0.00001
|
|
NM_001267550.2(TTN):c.83352G>A (p.Thr27784=)
|
rs781312539
|
0.00001
|
|
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val)
|
rs727504723
|
0.00001
|
|
NM_001267550.2(TTN):c.83409C>T (p.Val27803=)
|
rs767194702
|
0.00001
|
|
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter)
|
rs886055237
|
0.00001
|
|
NM_001267550.2(TTN):c.83439T>C (p.Tyr27813=)
|
rs569816178
|
0.00001
|
|
NM_001267550.2(TTN):c.83543T>C (p.Ile27848Thr)
|
rs397517723
|
0.00001
|
|
NM_001267550.2(TTN):c.83629C>T (p.Arg27877Cys)
|
rs527624888
|
0.00001
|
|
NM_001267550.2(TTN):c.83649G>C (p.Lys27883Asn)
|
rs878854337
|
0.00001
|
|
NM_001267550.2(TTN):c.83742A>G (p.Thr27914=)
|
rs778220693
|
0.00001
|
|
NM_001267550.2(TTN):c.83766T>C (p.Thr27922=)
|
rs757873540
|
0.00001
|
|
NM_001267550.2(TTN):c.83772T>C (p.Ser27924=)
|
rs1553567764
|
0.00001
|
|
NM_001267550.2(TTN):c.83793G>A (p.Glu27931=)
|
rs767740501
|
0.00001
|
|
NM_001267550.2(TTN):c.8381-9T>C
|
rs1026517147
|
0.00001
|
|
NM_001267550.2(TTN):c.83919T>C (p.Asn27973=)
|
rs777656348
|
0.00001
|
|
NM_001267550.2(TTN):c.83979T>C (p.Thr27993=)
|
rs755164013
|
0.00001
|
|
NM_001267550.2(TTN):c.83984A>C (p.Asn27995Thr)
|
rs751728774
|
0.00001
|
|
NM_001267550.2(TTN):c.83985C>T (p.Asn27995=)
|
rs766611189
|
0.00001
|
|
NM_001267550.2(TTN):c.83997T>C (p.Asp27999=)
|
rs182917459
|
0.00001
|
|
NM_001267550.2(TTN):c.84011A>G (p.Lys28004Arg)
|
rs776987640
|
0.00001
|
|
NM_001267550.2(TTN):c.84099T>C (p.Tyr28033=)
|
rs762450131
|
0.00001
|
|
NM_001267550.2(TTN):c.84187C>T (p.Arg28063Cys)
|
rs539595292
|
0.00001
|
|
NM_001267550.2(TTN):c.8418C>T (p.Ala2806=)
|
rs766197743
|
0.00001
|
|
NM_001267550.2(TTN):c.84225T>C (p.Ser28075=)
|
rs753003337
|
0.00001
|
|
NM_001267550.2(TTN):c.84243T>C (p.Tyr28081=)
|
rs374784036
|
0.00001
|
|
NM_001267550.2(TTN):c.84246T>C (p.Asp28082=)
|
rs766028032
|
0.00001
|
|
NM_001267550.2(TTN):c.84255C>A (p.Cys28085Ter)
|
rs772842119
|
0.00001
|
|
NM_001267550.2(TTN):c.84267T>C (p.Asn28089=)
|
rs1275689048
|
0.00001
|
|
NM_001267550.2(TTN):c.84291C>T (p.Thr28097=)
|
rs771977876
|
0.00001
|
|
NM_001267550.2(TTN):c.84335C>T (p.Thr28112Ile)
|
rs1429490203
|
0.00001
|
|
NM_001267550.2(TTN):c.84372G>A (p.Glu28124=)
|
rs775934532
|
0.00001
|
|
NM_001267550.2(TTN):c.84375T>C (p.Tyr28125=)
|
rs889277495
|
0.00001
|
|
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser)
|
rs727505053
|
0.00001
|
|
NM_001267550.2(TTN):c.84414C>T (p.Ser28138=)
|
rs965406205
|
0.00001
|
|
NM_001267550.2(TTN):c.84492G>A (p.Val28164=)
|
rs767513604
|
0.00001
|
|
NM_001267550.2(TTN):c.84497C>T (p.Ala28166Val)
|
rs1553564661
|
0.00001
|
|
NM_001267550.2(TTN):c.84573T>C (p.Leu28191=)
|
rs763144981
|
0.00001
|
|
NM_001267550.2(TTN):c.84574G>A (p.Glu28192Lys)
|
rs879123930
|
0.00001
|
|
NM_001267550.2(TTN):c.84591C>T (p.Ser28197=)
|
rs781670887
|
0.00001
|
|
NM_001267550.2(TTN):c.84657T>C (p.Leu28219=)
|
rs1703637065
|
0.00001
|
|
NM_001267550.2(TTN):c.84693T>C (p.Ala28231=)
|
rs1463900936
|
0.00001
|
|
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)
|
rs397517730
|
0.00001
|
|
NM_001267550.2(TTN):c.84729T>G (p.Ser28243=)
|
rs777582284
|
0.00001
|
|
NM_001267550.2(TTN):c.84741C>A (p.Val28247=)
|
rs752395100
|
0.00001
|
|
NM_001267550.2(TTN):c.84900G>A (p.Leu28300=)
|
rs1240509020
|
0.00001
|
|
NM_001267550.2(TTN):c.84990G>A (p.Arg28330=)
|
rs746633956
|
0.00001
|
|
NM_001267550.2(TTN):c.85008T>C (p.Val28336=)
|
rs566582429
|
0.00001
|
|
NM_001267550.2(TTN):c.85017A>G (p.Pro28339=)
|
rs748836886
|
0.00001
|
|
NM_001267550.2(TTN):c.85032G>A (p.Gly28344=)
|
rs1244058387
|
0.00001
|
|
NM_001267550.2(TTN):c.85036A>C (p.Ile28346Leu)
|
rs912296403
|
0.00001
|
|
NM_001267550.2(TTN):c.85053T>C (p.Asp28351=)
|
rs756426672
|
0.00001
|
|
NM_001267550.2(TTN):c.85068A>G (p.Arg28356=)
|
rs759660682
|
0.00001
|
|
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)
|
rs770038577
|
0.00001
|
|
NM_001267550.2(TTN):c.85119G>T (p.Glu28373Asp)
|
rs770787056
|
0.00001
|
|
NM_001267550.2(TTN):c.85191A>G (p.Glu28397=)
|
rs1471797849
|
0.00001
|
|
NM_001267550.2(TTN):c.85204G>A (p.Ala28402Thr)
|
rs1060500439
|
0.00001
|
|
NM_001267550.2(TTN):c.85242G>A (p.Leu28414=)
|
rs1222098369
|
0.00001
|
|
NM_001267550.2(TTN):c.852G>T (p.Ser284=)
|
rs768340304
|
0.00001
|
|
NM_001267550.2(TTN):c.85326C>T (p.Ala28442=)
|
rs765915556
|
0.00001
|
|
NM_001267550.2(TTN):c.85383T>C (p.Asn28461=)
|
rs886055235
|
0.00001
|
|
NM_001267550.2(TTN):c.85488T>C (p.Leu28496=)
|
rs778202815
|
0.00001
|
|
NM_001267550.2(TTN):c.85599T>G (p.Val28533=)
|
rs1553562779
|
0.00001
|
|
NM_001267550.2(TTN):c.85649T>A (p.Val28550Asp)
|
rs727505194
|
0.00001
|
|
NM_001267550.2(TTN):c.85731T>C (p.Asp28577=)
|
rs1575612281
|
0.00001
|
|
NM_001267550.2(TTN):c.85746A>C (p.Ile28582=)
|
rs771116739
|
0.00001
|
|
NM_001267550.2(TTN):c.85768C>A (p.Arg28590=)
|
rs748689777
|
0.00001
|
|
NM_001267550.2(TTN):c.85779T>C (p.Asn28593=)
|
rs1366817302
|
0.00001
|
|
NM_001267550.2(TTN):c.85797T>G (p.Arg28599=)
|
rs1479771122
|
0.00001
|
|
NM_001267550.2(TTN):c.85827A>G (p.Arg28609=)
|
rs371952669
|
0.00001
|
|
NM_001267550.2(TTN):c.85944A>G (p.Pro28648=)
|
rs1332707257
|
0.00001
|
|
NM_001267550.2(TTN):c.85953A>G (p.Leu28651=)
|
rs546573613
|
0.00001
|
|
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr)
|
rs397517733
|
0.00001
|
|
NM_001267550.2(TTN):c.86040G>C (p.Gly28680=)
|
rs764077128
|
0.00001
|
|
NM_001267550.2(TTN):c.86043C>A (p.Ala28681=)
|
rs931824826
|
0.00001
|
|
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=)
|
rs773001228
|
0.00001
|
|
NM_001267550.2(TTN):c.8611T>C (p.Leu2871=)
|
rs2091251735
|
0.00001
|
|
NM_001267550.2(TTN):c.86139C>T (p.Ser28713=)
|
rs750163793
|
0.00001
|
|
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg)
|
rs532818379
|
0.00001
|
|
NM_001267550.2(TTN):c.86259A>G (p.Leu28753=)
|
rs886055233
|
0.00001
|
|
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter)
|
rs1060500525
|
0.00001
|
|
NM_001267550.2(TTN):c.8648A>G (p.His2883Arg)
|
rs753833148
|
0.00001
|
|
NM_001267550.2(TTN):c.864C>T (p.His288=)
|
rs772543040
|
0.00001
|
|
NM_001267550.2(TTN):c.86511C>T (p.Thr28837=)
|
rs1455136677
|
0.00001
|
|
NM_001267550.2(TTN):c.86512T>C (p.Leu28838=)
|
rs765570651
|
0.00001
|
|
NM_001267550.2(TTN):c.86528T>G (p.Leu28843Ter)
|
rs752378132
|
0.00001
|
|
NM_001267550.2(TTN):c.86535C>T (p.Thr28845=)
|
rs767091592
|
0.00001
|
|
NM_001267550.2(TTN):c.8655A>T (p.Thr2885=)
|
rs1473922604
|
0.00001
|
|
NM_001267550.2(TTN):c.86616T>C (p.Asp28872=)
|
rs552702894
|
0.00001
|
|
NM_001267550.2(TTN):c.86739T>C (p.Ala28913=)
|
rs753808459
|
0.00001
|
|
NM_001267550.2(TTN):c.86769T>C (p.Asn28923=)
|
rs1438107682
|
0.00001
|
|
NM_001267550.2(TTN):c.86787A>T (p.Ile28929=)
|
rs759663708
|
0.00001
|
|
NM_001267550.2(TTN):c.8679G>T (p.Val2893=)
|
rs1574561314
|
0.00001
|
|
NM_001267550.2(TTN):c.86821+3A>G
|
rs1010541689
|
0.00001
|
|
NM_001267550.2(TTN):c.86836C>G (p.Pro28946Ala)
|
rs748587720
|
0.00001
|
|
NM_001267550.2(TTN):c.86846T>C (p.Leu28949Pro)
|
rs745542033
|
0.00001
|
|
NM_001267550.2(TTN):c.86883G>A (p.Leu28961=)
|
rs1484822645
|
0.00001
|
|
NM_001267550.2(TTN):c.86934C>T (p.Val28978=)
|
rs531340219
|
0.00001
|
|
NM_001267550.2(TTN):c.86970T>C (p.Val28990=)
|
rs1477582027
|
0.00001
|
|
NM_001267550.2(TTN):c.87000C>T (p.His29000=)
|
rs758683372
|
0.00001
|
|
NM_001267550.2(TTN):c.87001G>A (p.Val29001Ile)
|
rs750591986
|
0.00001
|
|
NM_001267550.2(TTN):c.87003T>A (p.Val29001=)
|
rs371894087
|
0.00001
|
|
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter)
|
rs776065839
|
0.00001
|
|
NM_001267550.2(TTN):c.87078G>A (p.Pro29026=)
|
rs772691207
|
0.00001
|
|
NM_001267550.2(TTN):c.87081A>G (p.Arg29027=)
|
rs886042694
|
0.00001
|
|
NM_001267550.2(TTN):c.87119-12C>T
|
rs1057518267
|
0.00001
|
|
NM_001267550.2(TTN):c.87131T>C (p.Ile29044Thr)
|
rs768120552
|
0.00001
|
|
NM_001267550.2(TTN):c.87183C>T (p.Asn29061=)
|
rs372776235
|
0.00001
|
|
NM_001267550.2(TTN):c.87232T>C (p.Leu29078=)
|
rs745309117
|
0.00001
|
|
NM_001267550.2(TTN):c.87279C>T (p.Thr29093=)
|
rs769998192
|
0.00001
|
|
NM_001267550.2(TTN):c.87333C>T (p.Asp29111=)
|
rs773566203
|
0.00001
|
|
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=)
|
rs369444690
|
0.00001
|
|
NM_001267550.2(TTN):c.87351C>A (p.Ile29117=)
|
rs752271681
|
0.00001
|
|
NM_001267550.2(TTN):c.87366C>A (p.Ser29122=)
|
rs1372807203
|
0.00001
|
|
NM_001267550.2(TTN):c.87387C>G (p.Phe29129Leu)
|
rs1335641292
|
0.00001
|
|
NM_001267550.2(TTN):c.87399T>C (p.Val29133=)
|
rs1002864801
|
0.00001
|
|
NM_001267550.2(TTN):c.87453T>A (p.Thr29151=)
|
rs755805590
|
0.00001
|
|
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile)
|
rs750362675
|
0.00001
|
|
NM_001267550.2(TTN):c.87660C>T (p.Ile29220=)
|
rs777982415
|
0.00001
|
|
NM_001267550.2(TTN):c.87663T>C (p.Ser29221=)
|
rs397517737
|
0.00001
|
|
NM_001267550.2(TTN):c.87707-7T>C
|
rs1380096448
|
0.00001
|
|
NM_001267550.2(TTN):c.87807C>T (p.Val29269=)
|
rs767666156
|
0.00001
|
|
NM_001267550.2(TTN):c.87836G>C (p.Arg29279Thr)
|
rs773541746
|
0.00001
|
|
NM_001267550.2(TTN):c.87924T>C (p.Tyr29308=)
|
rs1484500314
|
0.00001
|
|
NM_001267550.2(TTN):c.87939T>C (p.Tyr29313=)
|
rs200314496
|
0.00001
|
|
NM_001267550.2(TTN):c.88009+5G>A
|
rs148231754
|
0.00001
|
|
NM_001267550.2(TTN):c.88063T>C (p.Ser29355Pro)
|
rs768443497
|
0.00001
|
|
NM_001267550.2(TTN):c.88109A>G (p.Tyr29370Cys)
|
rs756679529
|
0.00001
|
|
NM_001267550.2(TTN):c.88152G>A (p.Lys29384=)
|
rs1206935877
|
0.00001
|
|
NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys)
|
rs727505102
|
0.00001
|
|
NM_001267550.2(TTN):c.88163C>T (p.Thr29388Ile)
|
rs775200192
|
0.00001
|
|
NM_001267550.2(TTN):c.88194T>G (p.Ser29398=)
|
rs1701745219
|
0.00001
|
|
NM_001267550.2(TTN):c.88296C>T (p.Ile29432=)
|
rs370287542
|
0.00001
|
|
NM_001267550.2(TTN):c.88306+20T>C
|
rs1028934147
|
0.00001
|
|
NM_001267550.2(TTN):c.88307-15C>T
|
rs727505307
|
0.00001
|
|
NM_001267550.2(TTN):c.88307-4G>A
|
rs1172705555
|
0.00001
|
|
NM_001267550.2(TTN):c.88368A>C (p.Thr29456=)
|
rs1433276032
|
0.00001
|
|
NM_001267550.2(TTN):c.8847A>G (p.Ala2949=)
|
rs1324642859
|
0.00001
|
|
NM_001267550.2(TTN):c.88514G>A (p.Arg29505His)
|
rs143193258
|
0.00001
|
|
NM_001267550.2(TTN):c.88563A>G (p.Ser29521=)
|
rs368216168
|
0.00001
|
|
NM_001267550.2(TTN):c.88581A>G (p.Arg29527=)
|
rs769529924
|
0.00001
|
|
NM_001267550.2(TTN):c.88667G>A (p.Arg29556Gln)
|
rs1207034709
|
0.00001
|
|
NM_001267550.2(TTN):c.88704C>T (p.His29568=)
|
rs370093328
|
0.00001
|
|
NM_001267550.2(TTN):c.88755T>C (p.Ser29585=)
|
rs1424674055
|
0.00001
|
|
NM_001267550.2(TTN):c.88761T>C (p.His29587=)
|
rs1332136041
|
0.00001
|
|
NM_001267550.2(TTN):c.88779T>A (p.Ile29593=)
|
rs1331442107
|
0.00001
|
|
NM_001267550.2(TTN):c.88820G>A (p.Arg29607Gln)
|
rs755212831
|
0.00001
|
|
NM_001267550.2(TTN):c.88830C>T (p.Ala29610=)
|
rs750893192
|
0.00001
|
|
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter)
|
rs794729300
|
0.00001
|
|
NM_001267550.2(TTN):c.88863A>C (p.Glu29621Asp)
|
rs750981091
|
0.00001
|
|
NM_001267550.2(TTN):c.88872C>T (p.Ser29624=)
|
rs374983712
|
0.00001
|
|
NM_001267550.2(TTN):c.88887C>T (p.Asn29629=)
|
rs759136146
|
0.00001
|
|
NM_001267550.2(TTN):c.8889C>A (p.Thr2963=)
|
rs1060503963
|
0.00001
|
|
NM_001267550.2(TTN):c.88933A>T (p.Ile29645Phe)
|
rs746067385
|
0.00001
|
|
NM_001267550.2(TTN):c.88947G>A (p.Ser29649=)
|
rs912193120
|
0.00001
|
|
NM_001267550.2(TTN):c.88966A>C (p.Arg29656=)
|
rs191512427
|
0.00001
|
|
NM_001267550.2(TTN):c.88968G>A (p.Arg29656=)
|
rs1407944964
|
0.00001
|
|
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=)
|
rs371678936
|
0.00001
|
|
NM_001267550.2(TTN):c.88992T>C (p.Asp29664=)
|
rs201658018
|
0.00001
|
|
NM_001267550.2(TTN):c.8902+18T>A
|
rs1057520411
|
0.00001
|
|
NM_001267550.2(TTN):c.89034A>G (p.Leu29678=)
|
rs759871787
|
0.00001
|
|
NM_001267550.2(TTN):c.89072C>A (p.Thr29691Asn)
|
rs794729525
|
0.00001
|
|
NM_001267550.2(TTN):c.89114A>G (p.Gln29705Arg)
|
rs752538734
|
0.00001
|
|
NM_001267550.2(TTN):c.89207G>C (p.Gly29736Ala)
|
rs1454670479
|
0.00001
|
|
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs)
|
rs1064794472
|
0.00001
|
|
NM_001267550.2(TTN):c.89379A>G (p.Thr29793=)
|
rs767935383
|
0.00001
|
|
NM_001267550.2(TTN):c.89425C>T (p.Arg29809Trp)
|
rs112777680
|
0.00001
|
|
NM_001267550.2(TTN):c.89479C>A (p.Pro29827Thr)
|
rs201620815
|
0.00001
|
|
NM_001267550.2(TTN):c.89503+7A>G
|
rs746577107
|
0.00001
|
|
NM_001267550.2(TTN):c.8954C>G (p.Thr2985Ser)
|
rs1553992057
|
0.00001
|
|
NM_001267550.2(TTN):c.89616A>G (p.Thr29872=)
|
rs777509175
|
0.00001
|
|
NM_001267550.2(TTN):c.89628T>G (p.Asp29876Glu)
|
rs397517743
|
0.00001
|
|
NM_001267550.2(TTN):c.89676T>C (p.Asp29892=)
|
rs750859239
|
0.00001
|
|
NM_001267550.2(TTN):c.89689C>T (p.Leu29897Phe)
|
rs180798672
|
0.00001
|
|
NM_001267550.2(TTN):c.89721A>G (p.Thr29907=)
|
rs773008865
|
0.00001
|
|
NM_001267550.2(TTN):c.89748T>C (p.Asn29916=)
|
rs776857075
|
0.00001
|
|
NM_001267550.2(TTN):c.89778G>A (p.Val29926=)
|
rs371342816
|
0.00001
|
|
NM_001267550.2(TTN):c.89835T>G (p.Val29945=)
|
rs1700026058
|
0.00001
|
|
NM_001267550.2(TTN):c.89868T>C (p.Pro29956=)
|
rs781495722
|
0.00001
|
|
NM_001267550.2(TTN):c.8987G>T (p.Gly2996Val)
|
rs779053650
|
0.00001
|
|
NM_001267550.2(TTN):c.89892A>T (p.Pro29964=)
|
rs1057523342
|
0.00001
|
|
NM_001267550.2(TTN):c.89907C>A (p.Val29969=)
|
rs72648241
|
0.00001
|
|
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met)
|
rs369855092
|
0.00001
|
|
NM_001267550.2(TTN):c.90012C>T (p.Phe30004=)
|
rs1193053542
|
0.00001
|
|
NM_001267550.2(TTN):c.90041G>A (p.Gly30014Glu)
|
rs1359003253
|
0.00001
|
|
NM_001267550.2(TTN):c.90054C>T (p.Pro30018=)
|
rs759755771
|
0.00001
|
|
NM_001267550.2(TTN):c.9006A>G (p.Leu3002=)
|
rs1390008829
|
0.00001
|
|
NM_001267550.2(TTN):c.90075G>A (p.Val30025=)
|
rs1161233801
|
0.00001
|
|
NM_001267550.2(TTN):c.900C>A (p.Thr300=)
|
rs764221189
|
0.00001
|
|
NM_001267550.2(TTN):c.90102A>T (p.Ile30034=)
|
rs1194863349
|
0.00001
|
|
NM_001267550.2(TTN):c.90103C>T (p.Arg30035Cys)
|
rs397517747
|
0.00001
|
|
NM_001267550.2(TTN):c.90149G>C (p.Ser30050Thr)
|
rs752534032
|
0.00001
|
|
NM_001267550.2(TTN):c.90159A>C (p.Lys30053Asn)
|
rs886039117
|
0.00001
|
|
NM_001267550.2(TTN):c.90171T>C (p.Asp30057=)
|
rs774509104
|
0.00001
|
|
NM_001267550.2(TTN):c.90195T>C (p.Tyr30065=)
|
rs920201335
|
0.00001
|
|
NM_001267550.2(TTN):c.90264T>C (p.Ile30088=)
|
rs1238844529
|
0.00001
|
|
NM_001267550.2(TTN):c.9042C>T (p.Cys3014=)
|
rs757883471
|
0.00001
|
|
NM_001267550.2(TTN):c.90477C>T (p.Pro30159=)
|
rs764570458
|
0.00001
|
|
NM_001267550.2(TTN):c.90516G>C (p.Leu30172=)
|
rs962890298
|
0.00001
|
|
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)
|
rs1553539391
|
0.00001
|
|
NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile)
|
rs727505024
|
0.00001
|
|
NM_001267550.2(TTN):c.90780C>T (p.Tyr30260=)
|
rs771892886
|
0.00001
|
|
NM_001267550.2(TTN):c.90849T>C (p.Thr30283=)
|
rs891394797
|
0.00001
|
|
NM_001267550.2(TTN):c.90864T>C (p.Asn30288=)
|
rs1400926434
|
0.00001
|
|
NM_001267550.2(TTN):c.90921C>T (p.Val30307=)
|
rs1290553839
|
0.00001
|
|
NM_001267550.2(TTN):c.91022T>A (p.Met30341Lys)
|
rs1379791737
|
0.00001
|
|
NM_001267550.2(TTN):c.91053T>C (p.Asp30351=)
|
rs769390930
|
0.00001
|
|
NM_001267550.2(TTN):c.9105T>G (p.Ala3035=)
|
rs1304179435
|
0.00001
|
|
NM_001267550.2(TTN):c.91065A>G (p.Glu30355=)
|
rs1057520905
|
0.00001
|
|
NM_001267550.2(TTN):c.9108T>C (p.Ala3036=)
|
rs886044544
|
0.00001
|
|
NM_001267550.2(TTN):c.91125T>C (p.Asn30375=)
|
rs772726653
|
0.00001
|
|
NM_001267550.2(TTN):c.91160C>T (p.Thr30387Ile)
|
rs754591100
|
0.00001
|
|
NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe)
|
rs376494747
|
0.00001
|
|
NM_001267550.2(TTN):c.91218C>T (p.Gly30406=)
|
rs749651870
|
0.00001
|
|
NM_001267550.2(TTN):c.91224C>T (p.Ser30408=)
|
rs1057522835
|
0.00001
|
|
NM_001267550.2(TTN):c.91277C>T (p.Pro30426Leu)
|
rs774454485
|
0.00001
|
|
NM_001267550.2(TTN):c.91344T>C (p.Arg30448=)
|
rs1060503927
|
0.00001
|
|
NM_001267550.2(TTN):c.91352G>A (p.Gly30451Asp)
|
rs751610164
|
0.00001
|
|
NM_001267550.2(TTN):c.91371T>C (p.Tyr30457=)
|
rs1228799485
|
0.00001
|
|
NM_001267550.2(TTN):c.91385G>A (p.Arg30462Gln)
|
rs794729529
|
0.00001
|
|
NM_001267550.2(TTN):c.91475A>G (p.Tyr30492Cys)
|
rs769678577
|
0.00001
|
|
NM_001267550.2(TTN):c.91521G>A (p.Pro30507=)
|
rs770698629
|
0.00001
|
|
NM_001267550.2(TTN):c.91524C>G (p.Pro30508=)
|
rs762592354
|
0.00001
|
|
NM_001267550.2(TTN):c.91533T>G (p.Ser30511=)
|
rs772824909
|
0.00001
|
|
NM_001267550.2(TTN):c.91536T>A (p.Ser30512=)
|
rs769873625
|
0.00001
|
|
NM_001267550.2(TTN):c.91626G>A (p.Glu30542=)
|
rs761453557
|
0.00001
|
|
NM_001267550.2(TTN):c.9163+17A>G
|
rs1223619094
|
0.00001
|
|
NM_001267550.2(TTN):c.9163+3A>G
|
rs760597240
|
0.00001
|
|
NM_001267550.2(TTN):c.91632T>G (p.Leu30544=)
|
rs909346656
|
0.00001
|
|
NM_001267550.2(TTN):c.9164-9del
|
rs752677873
|
0.00001
|
|
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)
|
rs553668520
|
0.00001
|
|
NM_001267550.2(TTN):c.91645T>C (p.Leu30549=)
|
rs1698784346
|
0.00001
|
|
NM_001267550.2(TTN):c.91674A>C (p.Val30558=)
|
rs946238655
|
0.00001
|
|
NM_001267550.2(TTN):c.91728C>T (p.Thr30576=)
|
rs748596900
|
0.00001
|
|
NM_001267550.2(TTN):c.91813T>A (p.Ser30605Thr)
|
rs984360776
|
0.00001
|
|
NM_001267550.2(TTN):c.91878A>T (p.Pro30626=)
|
rs879211202
|
0.00001
|
|
NM_001267550.2(TTN):c.91899T>C (p.Thr30633=)
|
rs1698609403
|
0.00001
|
|
NM_001267550.2(TTN):c.918C>T (p.Ser306=)
|
rs773898647
|
0.00001
|
|
NM_001267550.2(TTN):c.91902G>A (p.Gly30634=)
|
rs1396806455
|
0.00001
|
|
NM_001267550.2(TTN):c.91915C>G (p.Leu30639Val)
|
rs373049260
|
0.00001
|
|
NM_001267550.2(TTN):c.91935C>G (p.Leu30645=)
|
rs1060503947
|
0.00001
|
|
NM_001267550.2(TTN):c.92007A>C (p.Leu30669=)
|
rs983586137
|
0.00001
|
|
NM_001267550.2(TTN):c.9200T>C (p.Ile3067Thr)
|
rs1435097269
|
0.00001
|
|
NM_001267550.2(TTN):c.92058C>T (p.Asn30686=)
|
rs545632095
|
0.00001
|
|
NM_001267550.2(TTN):c.92163T>C (p.Asp30721=)
|
rs1246630590
|
0.00001
|
|
NM_001267550.2(TTN):c.92226G>A (p.Arg30742=)
|
rs759484932
|
0.00001
|
|
NM_001267550.2(TTN):c.92262T>C (p.Tyr30754=)
|
rs1212338157
|
0.00001
|
|
NM_001267550.2(TTN):c.92291C>A (p.Thr30764Lys)
|
rs376537509
|
0.00001
|
|
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)
|
rs794729301
|
0.00001
|
|
NM_001267550.2(TTN):c.92349T>C (p.Thr30783=)
|
rs548756476
|
0.00001
|
|
NM_001267550.2(TTN):c.92381A>G (p.His30794Arg)
|
rs773998423
|
0.00001
|
|
NM_001267550.2(TTN):c.92385C>A (p.Val30795=)
|
rs376597397
|
0.00001
|
|
NM_001267550.2(TTN):c.92449G>C (p.Glu30817Gln)
|
rs529196025
|
0.00001
|
|
NM_001267550.2(TTN):c.92488G>A (p.Val30830Ile)
|
rs376287060
|
0.00001
|
|
NM_001267550.2(TTN):c.92493A>G (p.Thr30831=)
|
rs569803137
|
0.00001
|
|
NM_001267550.2(TTN):c.92520A>T (p.Leu30840Phe)
|
rs772574748
|
0.00001
|
|
NM_001267550.2(TTN):c.92582G>A (p.Cys30861Tyr)
|
rs1045877862
|
0.00001
|
|
NM_001267550.2(TTN):c.92694T>C (p.Ala30898=)
|
rs760506340
|
0.00001
|
|
NM_001267550.2(TTN):c.92700T>C (p.Asn30900=)
|
rs943855215
|
0.00001
|
|
NM_001267550.2(TTN):c.92718C>T (p.Asp30906=)
|
rs749379446
|
0.00001
|
|
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys)
|
rs531432790
|
0.00001
|
|
NM_001267550.2(TTN):c.92821G>A (p.Ala30941Thr)
|
rs777150584
|
0.00001
|
|
NM_001267550.2(TTN):c.92868A>T (p.Thr30956=)
|
rs1000250632
|
0.00001
|
|
NM_001267550.2(TTN):c.92905C>T (p.Arg30969Trp)
|
rs754767262
|
0.00001
|
|
NM_001267550.2(TTN):c.92934C>T (p.Phe30978=)
|
rs769177976
|
0.00001
|
|
NM_001267550.2(TTN):c.92979A>G (p.Lys30993=)
|
rs754893239
|
0.00001
|
|
NM_001267550.2(TTN):c.93030C>T (p.Thr31010=)
|
rs764535070
|
0.00001
|
|
NM_001267550.2(TTN):c.9303C>G (p.Asp3101Glu)
|
rs148676491
|
0.00001
|
|
NM_001267550.2(TTN):c.9305+4A>C
|
rs746628782
|
0.00001
|
|
NM_001267550.2(TTN):c.9306-8A>T
|
rs745630247
|
0.00001
|
|
NM_001267550.2(TTN):c.93089G>A (p.Arg31030Gln)
|
rs766391515
|
0.00001
|
|
NM_001267550.2(TTN):c.93139C>T (p.Arg31047Ter)
|
rs1416323929
|
0.00001
|
|
NM_001267550.2(TTN):c.93262T>G (p.Phe31088Val)
|
rs1023137329
|
0.00001
|
|
NM_001267550.2(TTN):c.93264C>T (p.Phe31088=)
|
rs751923958
|
0.00001
|
|
NM_001267550.2(TTN):c.93270T>C (p.Val31090=)
|
rs533233569
|
0.00001
|
|
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=)
|
rs1280272876
|
0.00001
|
|
NM_001267550.2(TTN):c.9330T>C (p.Tyr3110=)
|
rs767819850
|
0.00001
|
|
NM_001267550.2(TTN):c.93543A>G (p.Glu31181=)
|
rs1358160212
|
0.00001
|
|
NM_001267550.2(TTN):c.93549A>G (p.Glu31183=)
|
rs1341690813
|
0.00001
|
|
NM_001267550.2(TTN):c.9354C>T (p.Ser3118=)
|
rs1369897789
|
0.00001
|
|
NM_001267550.2(TTN):c.93567G>A (p.Lys31189=)
|
rs772663685
|
0.00001
|
|
NM_001267550.2(TTN):c.93573T>C (p.Asp31191=)
|
rs965506398
|
0.00001
|
|
NM_001267550.2(TTN):c.93576T>C (p.Ala31192=)
|
rs377521708
|
0.00001
|
|
NM_001267550.2(TTN):c.93603C>T (p.Phe31201=)
|
rs765759269
|
0.00001
|
|
NM_001267550.2(TTN):c.93609T>C (p.Ser31203=)
|
rs373876522
|
0.00001
|
|
NM_001267550.2(TTN):c.93633C>T (p.Ile31211=)
|
rs1362462843
|
0.00001
|
|
NM_001267550.2(TTN):c.93683A>G (p.Lys31228Arg)
|
rs368714667
|
0.00001
|
|
NM_001267550.2(TTN):c.93735C>G (p.Pro31245=)
|
rs1697864721
|
0.00001
|
|
NM_001267550.2(TTN):c.93866C>A (p.Thr31289Asn)
|
rs371666313
|
0.00001
|
|
NM_001267550.2(TTN):c.93868C>T (p.Leu31290=)
|
rs557737090
|
0.00001
|
|
NM_001267550.2(TTN):c.93906A>C (p.Thr31302=)
|
rs1697802567
|
0.00001
|
|
NM_001267550.2(TTN):c.93963C>G (p.Val31321=)
|
rs1194888653
|
0.00001
|
|
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=)
|
rs727504528
|
0.00001
|
|
NM_001267550.2(TTN):c.93991G>A (p.Gly31331Arg)
|
rs377660595
|
0.00001
|
|
NM_001267550.2(TTN):c.94017T>C (p.Thr31339=)
|
rs750473201
|
0.00001
|
|
NM_001267550.2(TTN):c.94020A>G (p.Glu31340=)
|
rs547439339
|
0.00001
|
|
NM_001267550.2(TTN):c.94053G>A (p.Ser31351=)
|
rs777229309
|
0.00001
|
|
NM_001267550.2(TTN):c.94142T>C (p.Phe31381Ser)
|
rs751185223
|
0.00001
|
|
NM_001267550.2(TTN):c.94157A>C (p.Glu31386Ala)
|
rs772833696
|
0.00001
|
|
NM_001267550.2(TTN):c.9420C>G (p.Leu3140=)
|
rs376571708
|
0.00001
|
|
NM_001267550.2(TTN):c.94219+11T>C
|
rs1184310421
|
0.00001
|
|
NM_001267550.2(TTN):c.94220-6A>G
|
rs376900895
|
0.00001
|
|
NM_001267550.2(TTN):c.94260G>A (p.Val31420=)
|
rs371477954
|
0.00001
|
|
NM_001267550.2(TTN):c.94368G>A (p.Val31456=)
|
rs753472818
|
0.00001
|
|
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)
|
rs146572907
|
0.00001
|
|
NM_001267550.2(TTN):c.9449G>A (p.Arg3150Gln)
|
rs141093658
|
0.00001
|
|
NM_001267550.2(TTN):c.94502T>C (p.Ile31501Thr)
|
rs758756316
|
0.00001
|
|
NM_001267550.2(TTN):c.94509T>C (p.Ala31503=)
|
rs1407341819
|
0.00001
|
|
NM_001267550.2(TTN):c.94534A>C (p.Arg31512=)
|
rs1247100769
|
0.00001
|
|
NM_001267550.2(TTN):c.9453T>C (p.Ser3151=)
|
rs879041803
|
0.00001
|
|
NM_001267550.2(TTN):c.94559G>A (p.Arg31520Lys)
|
rs879111902
|
0.00001
|
|
NM_001267550.2(TTN):c.94590A>G (p.Pro31530=)
|
rs558347312
|
0.00001
|
|
NM_001267550.2(TTN):c.94599T>C (p.Asp31533=)
|
rs764363274
|
0.00001
|
|
NM_001267550.2(TTN):c.94611G>A (p.Lys31537=)
|
rs1163088822
|
0.00001
|
|
NM_001267550.2(TTN):c.94620C>A (p.Gly31540=)
|
rs746325775
|
0.00001
|
|
NM_001267550.2(TTN):c.94634G>A (p.Arg31545His)
|
rs920039018
|
0.00001
|
|
NM_001267550.2(TTN):c.9468T>A (p.Val3156=)
|
rs879192388
|
0.00001
|
|
NM_001267550.2(TTN):c.9471+15C>T
|
rs1430805006
|
0.00001
|
|
NM_001267550.2(TTN):c.94737T>A (p.Thr31579=)
|
rs550130914
|
0.00001
|
|
NM_001267550.2(TTN):c.94740T>C (p.Tyr31580=)
|
rs1359929309
|
0.00001
|
|
NM_001267550.2(TTN):c.94764T>C (p.Asn31588=)
|
rs1403181534
|
0.00001
|
|
NM_001267550.2(TTN):c.94773C>T (p.Gly31591=)
|
rs897518524
|
0.00001
|
|
NM_001267550.2(TTN):c.94779T>A (p.Ile31593=)
|
rs1697301679
|
0.00001
|
|
NM_001267550.2(TTN):c.94794A>G (p.Glu31598=)
|
rs368885714
|
0.00001
|
|
NM_001267550.2(TTN):c.94807G>T (p.Val31603Phe)
|
rs1060500567
|
0.00001
|
|
NM_001267550.2(TTN):c.94829-20T>C
|
rs1178304926
|
0.00001
|
|
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter)
|
rs869312121
|
0.00001
|
|
NM_001267550.2(TTN):c.9486G>A (p.Gln3162=)
|
rs768927616
|
0.00001
|
|
NM_001267550.2(TTN):c.94880T>C (p.Ile31627Thr)
|
rs751714990
|
0.00001
|
|
NM_001267550.2(TTN):c.94881C>T (p.Ile31627=)
|
rs766615068
|
0.00001
|
|
NM_001267550.2(TTN):c.94985T>A (p.Val31662Asp)
|
rs1164809267
|
0.00001
|
|
NM_001267550.2(TTN):c.9502T>G (p.Phe3168Val)
|
rs746038856
|
0.00001
|
|
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=)
|
rs746787955
|
0.00001
|
|
NM_001267550.2(TTN):c.95111A>G (p.Lys31704Arg)
|
rs754379972
|
0.00001
|
|
NM_001267550.2(TTN):c.95119+14A>G
|
rs1697040513
|
0.00001
|
|
NM_001267550.2(TTN):c.95119G>C (p.Asp31707His)
|
rs1360232560
|
0.00001
|
|
NM_001267550.2(TTN):c.95120-4T>G
|
rs746125479
|
0.00001
|
|
NM_001267550.2(TTN):c.9513T>C (p.Asn3171=)
|
rs373901032
|
0.00001
|
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
|
NM_001267550.2(TTN):c.95219T>C (p.Ile31740Thr)
|
rs200781956
|
0.00001
|
|
NM_001267550.2(TTN):c.9522T>C (p.Asp3174=)
|
rs765763326
|
0.00001
|
|
NM_001267550.2(TTN):c.95232C>T (p.Ile31744=)
|
rs267599026
|
0.00001
|
|
NM_001267550.2(TTN):c.95281G>A (p.Glu31761Lys)
|
rs727505342
|
0.00001
|
|
NM_001267550.2(TTN):c.95368C>T (p.Pro31790Ser)
|
rs1235693684
|
0.00001
|
|
NM_001267550.2(TTN):c.95379T>G (p.Pro31793=)
|
rs878854431
|
0.00001
|
|
NM_001267550.2(TTN):c.95413T>C (p.Phe31805Leu)
|
rs537065526
|
0.00001
|
|
NM_001267550.2(TTN):c.95417-7T>C
|
rs1465416438
|
0.00001
|
|
NM_001267550.2(TTN):c.95433C>T (p.Pro31811=)
|
rs780805481
|
0.00001
|
|
NM_001267550.2(TTN):c.95497T>A (p.Ser31833Thr)
|
rs764271138
|
0.00001
|
|
NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys)
|
rs774814532
|
0.00001
|
|
NM_001267550.2(TTN):c.95556G>A (p.Leu31852=)
|
rs1335861018
|
0.00001
|
|
NM_001267550.2(TTN):c.95562G>C (p.Trp31854Cys)
|
rs752756889
|
0.00001
|
|
NM_001267550.2(TTN):c.9558C>A (p.Ile3186=)
|
rs150569468
|
0.00001
|
|
NM_001267550.2(TTN):c.95645G>A (p.Arg31882Gln)
|
rs767746607
|
0.00001
|
|
NM_001267550.2(TTN):c.95652C>T (p.Thr31884=)
|
rs397517762
|
0.00001
|
|
NM_001267550.2(TTN):c.95667T>C (p.Ala31889=)
|
rs773412750
|
0.00001
|
|
NM_001267550.2(TTN):c.95709C>T (p.Cys31903=)
|
rs878961342
|
0.00001
|
|
NM_001267550.2(TTN):c.95722+9C>T
|
rs569437354
|
0.00001
|
|
NM_001267550.2(TTN):c.95765C>G (p.Thr31922Ser)
|
rs769771566
|
0.00001
|
|
NM_001267550.2(TTN):c.9576A>G (p.Glu3192=)
|
rs771979221
|
0.00001
|
|
NM_001267550.2(TTN):c.95841A>G (p.Glu31947=)
|
rs370652120
|
0.00001
|
|
NM_001267550.2(TTN):c.95964G>A (p.Val31988=)
|
rs1381333879
|
0.00001
|
|
NM_001267550.2(TTN):c.95982C>T (p.Ser31994=)
|
rs761895710
|
0.00001
|
|
NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys)
|
rs776682000
|
0.00001
|
|
NM_001267550.2(TTN):c.96028+16G>A
|
rs756825006
|
0.00001
|
|
NM_001267550.2(TTN):c.96029-18T>C
|
rs1240720830
|
0.00001
|
|
NM_001267550.2(TTN):c.96060A>G (p.Leu32020=)
|
rs1172164559
|
0.00001
|
|
NM_001267550.2(TTN):c.96311-4T>C
|
rs1553518208
|
0.00001
|
|
NM_001267550.2(TTN):c.96315T>G (p.Thr32105=)
|
rs727503540
|
0.00001
|
|
NM_001267550.2(TTN):c.96336G>T (p.Val32112=)
|
rs964067201
|
0.00001
|
|
NM_001267550.2(TTN):c.96422T>A (p.Ile32141Asn)
|
rs753559586
|
0.00001
|
|
NM_001267550.2(TTN):c.96462A>G (p.Thr32154=)
|
rs776263585
|
0.00001
|
|
NM_001267550.2(TTN):c.96615G>A (p.Val32205=)
|
rs763674509
|
0.00001
|
|
NM_001267550.2(TTN):c.96654T>C (p.Thr32218=)
|
rs774339567
|
0.00001
|
|
NM_001267550.2(TTN):c.96685G>A (p.Asp32229Asn)
|
rs770101398
|
0.00001
|
|
NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln)
|
rs755082341
|
0.00001
|
|
NM_001267550.2(TTN):c.96715C>T (p.Leu32239Phe)
|
rs889392294
|
0.00001
|
|
NM_001267550.2(TTN):c.96717C>T (p.Leu32239=)
|
rs1317384618
|
0.00001
|
|
NM_001267550.2(TTN):c.96782A>G (p.Glu32261Gly)
|
rs1060500578
|
0.00001
|
|
NM_001267550.2(TTN):c.96834G>A (p.Arg32278=)
|
rs558927011
|
0.00001
|
|
NM_001267550.2(TTN):c.96837A>C (p.Ala32279=)
|
rs1232489828
|
0.00001
|
|
NM_001267550.2(TTN):c.96904+8C>T
|
rs528358945
|
0.00001
|
|
NM_001267550.2(TTN):c.96978G>A (p.Leu32326=)
|
rs397517765
|
0.00001
|
|
NM_001267550.2(TTN):c.97003C>T (p.Pro32335Ser)
|
rs779886174
|
0.00001
|
|
NM_001267550.2(TTN):c.9703+16T>C
|
rs760375182
|
0.00001
|
|
NM_001267550.2(TTN):c.9704-19T>C
|
rs770264515
|
0.00001
|
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
|
NM_001267550.2(TTN):c.97095C>T (p.Thr32365=)
|
rs765620114
|
0.00001
|
|
NM_001267550.2(TTN):c.97119T>C (p.Asp32373=)
|
rs755958523
|
0.00001
|
|
NM_001267550.2(TTN):c.97141T>C (p.Leu32381=)
|
rs748122990
|
0.00001
|
|
NM_001267550.2(TTN):c.97152T>C (p.Val32384=)
|
rs368018568
|
0.00001
|
|
NM_001267550.2(TTN):c.97155C>T (p.Thr32385=)
|
rs766443861
|
0.00001
|
|
NM_001267550.2(TTN):c.97192+12T>C
|
rs1346344405
|
0.00001
|
|
NM_001267550.2(TTN):c.97192+4A>G
|
rs370069759
|
0.00001
|
|
NM_001267550.2(TTN):c.97193-15T>A
|
rs377523613
|
0.00001
|
|
NM_001267550.2(TTN):c.97194C>T (p.Asp32398=)
|
rs768594716
|
0.00001
|
|
NM_001267550.2(TTN):c.971C>T (p.Pro324Leu)
|
rs939333996
|
0.00001
|
|
NM_001267550.2(TTN):c.97281C>T (p.Asp32427=)
|
rs879166784
|
0.00001
|
|
NM_001267550.2(TTN):c.97287T>C (p.Gly32429=)
|
rs755666486
|
0.00001
|
|
NM_001267550.2(TTN):c.97294C>T (p.Leu32432=)
|
rs72648267
|
0.00001
|
|
NM_001267550.2(TTN):c.97347C>T (p.Pro32449=)
|
rs753266734
|
0.00001
|
|
NM_001267550.2(TTN):c.97405G>A (p.Glu32469Lys)
|
rs1280768790
|
0.00001
|
|
NM_001267550.2(TTN):c.97417C>T (p.Arg32473Cys)
|
rs371924787
|
0.00001
|
|
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His)
|
rs397517770
|
0.00001
|
|
NM_001267550.2(TTN):c.97419T>C (p.Arg32473=)
|
rs1317447790
|
0.00001
|
|
NM_001267550.2(TTN):c.9741T>C (p.Pro3247=)
|
rs767301504
|
0.00001
|
|
NM_001267550.2(TTN):c.97426G>A (p.Ala32476Thr)
|
rs760169773
|
0.00001
|
|
NM_001267550.2(TTN):c.97440C>T (p.Phe32480=)
|
rs537143465
|
0.00001
|
|
NM_001267550.2(TTN):c.97488C>T (p.Ser32496=)
|
rs727504527
|
0.00001
|
|
NM_001267550.2(TTN):c.974T>C (p.Leu325Ser)
|
rs755076118
|
0.00001
|
|
NM_001267550.2(TTN):c.9750G>A (p.Val3250=)
|
rs1031196954
|
0.00001
|
|
NM_001267550.2(TTN):c.97539T>C (p.Arg32513=)
|
rs754524673
|
0.00001
|
|
NM_001267550.2(TTN):c.97542T>C (p.Asp32514=)
|
rs373909743
|
0.00001
|
|
NM_001267550.2(TTN):c.97586C>A (p.Ser32529Tyr)
|
rs1060500480
|
0.00001
|
|
NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys)
|
rs761050391
|
0.00001
|
|
NM_001267550.2(TTN):c.9770G>A (p.Arg3257His)
|
rs535876380
|
0.00001
|
|
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val)
|
rs397517771
|
0.00001
|
|
NM_001267550.2(TTN):c.97776C>T (p.Ile32592=)
|
rs375166890
|
0.00001
|
|
NM_001267550.2(TTN):c.97792A>G (p.Ile32598Val)
|
rs372075164
|
0.00001
|
|
NM_001267550.2(TTN):c.97796-7T>C
|
rs1250582186
|
0.00001
|
|
NM_001267550.2(TTN):c.97892A>T (p.Lys32631Ile)
|
rs944963846
|
0.00001
|
|
NM_001267550.2(TTN):c.97910T>C (p.Ile32637Thr)
|
rs794729547
|
0.00001
|
|
NM_001267550.2(TTN):c.97926A>T (p.Val32642=)
|
rs766450778
|
0.00001
|
|
NM_001267550.2(TTN):c.97944C>T (p.Thr32648=)
|
rs367773598
|
0.00001
|
|
NM_001267550.2(TTN):c.97947G>C (p.Lys32649Asn)
|
rs773776767
|
0.00001
|
|
NM_001267550.2(TTN):c.97974A>G (p.Arg32658=)
|
rs1473079383
|
0.00001
|
|
NM_001267550.2(TTN):c.98130C>T (p.Tyr32710=)
|
rs1057365626
|
0.00001
|
|
NM_001267550.2(TTN):c.98142C>A (p.Ile32714=)
|
rs1412763912
|
0.00001
|
|
NM_001267550.2(TTN):c.98151G>A (p.Arg32717=)
|
rs757402291
|
0.00001
|
|
NM_001267550.2(TTN):c.98160C>T (p.Gly32720=)
|
rs749776301
|
0.00001
|
|
NM_001267550.2(TTN):c.98172T>C (p.Leu32724=)
|
rs72648271
|
0.00001
|
|
NM_001267550.2(TTN):c.98237G>A (p.Ser32746Asn)
|
rs1410694267
|
0.00001
|
|
NM_001267550.2(TTN):c.98238T>C (p.Ser32746=)
|
rs879159807
|
0.00001
|
|
NM_001267550.2(TTN):c.98341T>C (p.Cys32781Arg)
|
rs562178341
|
0.00001
|
|
NM_001267550.2(TTN):c.98426A>C (p.Gln32809Pro)
|
rs1060500398
|
0.00001
|
|
NM_001267550.2(TTN):c.98460T>C (p.Pro32820=)
|
rs761758255
|
0.00001
|
|
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)
|
rs191054704
|
0.00001
|
|
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter)
|
rs869312085
|
0.00001
|
|
NM_001267550.2(TTN):c.98514G>A (p.Val32838=)
|
rs766256695
|
0.00001
|
|
NM_001267550.2(TTN):c.98523C>T (p.Ala32841=)
|
rs1273018417
|
0.00001
|
|
NM_001267550.2(TTN):c.98532T>C (p.Tyr32844=)
|
rs1435802250
|
0.00001
|
|
NM_001267550.2(TTN):c.98568G>A (p.Val32856=)
|
rs533744192
|
0.00001
|
|
NM_001267550.2(TTN):c.98589T>C (p.Asn32863=)
|
rs1553509474
|
0.00001
|
|
NM_001267550.2(TTN):c.98615C>G (p.Ala32872Gly)
|
rs150288160
|
0.00001
|
|
NM_001267550.2(TTN):c.98683+8C>A
|
rs1186041841
|
0.00001
|
|
NM_001267550.2(TTN):c.98684-10A>G
|
rs727505072
|
0.00001
|
|
NM_001267550.2(TTN):c.98684-4A>G
|
rs760027926
|
0.00001
|
|
NM_001267550.2(TTN):c.98684-9T>C
|
rs767607825
|
0.00001
|
|
NM_001267550.2(TTN):c.98685T>C (p.Asn32895=)
|
rs752093604
|
0.00001
|
|
NM_001267550.2(TTN):c.98687C>T (p.Pro32896Leu)
|
rs1335232513
|
0.00001
|
|
NM_001267550.2(TTN):c.98688T>C (p.Pro32896=)
|
rs1575351608
|
0.00001
|
|
NM_001267550.2(TTN):c.98739T>C (p.Ser32913=)
|
rs377183405
|
0.00001
|
|
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly)
|
rs760917372
|
0.00001
|
|
NM_001267550.2(TTN):c.98781T>C (p.Ser32927=)
|
rs750855113
|
0.00001
|
|
NM_001267550.2(TTN):c.98793C>A (p.Gly32931=)
|
rs542349170
|
0.00001
|
|
NM_001267550.2(TTN):c.98820C>T (p.Ser32940=)
|
rs777613056
|
0.00001
|
|
NM_001267550.2(TTN):c.9885G>A (p.Thr3295=)
|
rs867738419
|
0.00001
|
|
NM_001267550.2(TTN):c.98867T>C (p.Met32956Thr)
|
rs727504962
|
0.00001
|
|
NM_001267550.2(TTN):c.98883G>A (p.Gly32961=)
|
rs367964855
|
0.00001
|
|
NM_001267550.2(TTN):c.98907G>C (p.Gln32969His)
|
rs1018386868
|
0.00001
|
|
NM_001267550.2(TTN):c.99045C>T (p.Val33015=)
|
rs199642780
|
0.00001
|
|
NM_001267550.2(TTN):c.99062A>G (p.Lys33021Arg)
|
rs749757136
|
0.00001
|
|
NM_001267550.2(TTN):c.99160A>C (p.Lys33054Gln)
|
rs1553507202
|
0.00001
|
|
NM_001267550.2(TTN):c.99176C>T (p.Thr33059Ile)
|
rs1038769207
|
0.00001
|
|
NM_001267550.2(TTN):c.9918G>A (p.Ala3306=)
|
rs533798702
|
0.00001
|
|
NM_001267550.2(TTN):c.99225T>G (p.Ala33075=)
|
rs1000150217
|
0.00001
|
|
NM_001267550.2(TTN):c.99291T>C (p.Ser33097=)
|
rs748101761
|
0.00001
|
|
NM_001267550.2(TTN):c.99297G>A (p.Glu33099=)
|
rs925087891
|
0.00001
|
|
NM_001267550.2(TTN):c.99363A>G (p.Ser33121=)
|
rs1033602678
|
0.00001
|
|
NM_001267550.2(TTN):c.99471T>C (p.Thr33157=)
|
rs1487577514
|
0.00001
|
|
NM_001267550.2(TTN):c.99544G>A (p.Val33182Ile)
|
rs1060500530
|
0.00001
|
|
NM_001267550.2(TTN):c.99621T>C (p.Tyr33207=)
|
rs753176107
|
0.00001
|
|
NM_001267550.2(TTN):c.996A>G (p.Ala332=)
|
rs750838855
|
0.00001
|
|
NM_001267550.2(TTN):c.99702G>A (p.Gln33234=)
|
rs185925881
|
0.00001
|
|
NM_001267550.2(TTN):c.99753T>C (p.Tyr33251=)
|
rs781103653
|
0.00001
|
|
NM_001267550.2(TTN):c.99774T>C (p.Asn33258=)
|
rs758792040
|
0.00001
|
|
NM_001267550.2(TTN):c.99836T>G (p.Val33279Gly)
|
rs770098799
|
0.00001
|
|
NM_001267550.2(TTN):c.9983T>C (p.Val3328Ala)
|
rs1060500412
|
0.00001
|
|
NM_001267550.2(TTN):c.9988+13C>T
|
rs757347744
|
0.00001
|
|
NM_001267550.2(TTN):c.9988+14G>A
|
rs754074745
|
0.00001
|
|
NM_001267550.2(TTN):c.9989-16T>C
|
rs564482474
|
0.00001
|
|
NM_001267550.2(TTN):c.99900C>T (p.Ile33300=)
|
rs747130957
|
0.00001
|
|
NM_001267550.2(TTN):c.99909A>G (p.Leu33303=)
|
rs878926568
|
0.00001
|
|
NM_001267550.2(TTN):c.99913A>G (p.Lys33305Glu)
|
rs1553503789
|
0.00001
|
|
NM_001267550.2(TTN):c.99927G>C (p.Val33309=)
|
rs752424641
|
0.00001
|
|
NM_001267550.2(TTN):c.99954C>T (p.Asp33318=)
|
rs765089470
|
0.00001
|
|
NM_001267550.2(TTN):c.99990A>G (p.Lys33330=)
|
rs749702063
|
0.00001
|
|
NM_001267550.2(TTN):c.99996G>A (p.Glu33332=)
|
rs754693509
|
0.00001
|
|
NM_001368067.1(LDB3):c.405C>A (p.His135Gln)
|
rs928294708
|
0.00001
|
|
NM_001368067.1(LDB3):c.418G>A (p.Val140Met)
|
rs745329859
|
0.00001
|
|
NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser)
|
rs915830221
|
0.00001
|
|
NM_001368067.1(LDB3):c.435C>G (p.Gly145=)
|
rs367612170
|
0.00001
|
|
NM_001368067.1(LDB3):c.453T>C (p.His151=)
|
rs768048953
|
0.00001
|
|
NM_001368067.1(LDB3):c.455C>A (p.Ala152Glu)
|
rs753193786
|
0.00001
|
|
NM_001368067.1(LDB3):c.490G>C (p.Asp164His)
|
rs1000020884
|
0.00001
|
|
NM_001368067.1(LDB3):c.517C>A (p.Gln173Lys)
|
rs1220958570
|
0.00001
|
|
NM_001368067.1(LDB3):c.530A>G (p.Gln177Arg)
|
rs1310394018
|
0.00001
|
|
NM_001368067.1(LDB3):c.545G>A (p.Ser182Asn)
|
rs774522659
|
0.00001
|
|
NM_001368067.1(LDB3):c.766G>A (p.Glu256Lys)
|
rs774307690
|
0.00001
|
|
NM_001368067.1(LDB3):c.772G>C (p.Glu258Gln)
|
rs868365512
|
0.00001
|
|
NM_001368067.1(LDB3):c.776G>A (p.Arg259His)
|
rs557033441
|
0.00001
|
|
NM_001368067.1(LDB3):c.798A>G (p.Lys266=)
|
rs370682028
|
0.00001
|
|
NM_001368067.1(LDB3):c.803G>A (p.Arg268His)
|
rs751981682
|
0.00001
|
|
NM_001368067.1(LDB3):c.816T>C (p.His272=)
|
rs748780980
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1020C>T (p.Pro340=)
|
rs1319236751
|
0.00001
|
|
NM_001378030.1(CCDC78):c.102G>C (p.Gly34=)
|
rs558680404
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1039C>T (p.His347Tyr)
|
rs369908634
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1052A>G (p.Gln351Arg)
|
rs371921917
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1054-14A>G
|
rs575159946
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1054-9C>G
|
rs781457535
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1060G>A (p.Gly354Arg)
|
rs199867890
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1083C>T (p.Ser361=)
|
rs763378541
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1112del (p.Gln371fs)
|
rs765483630
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1124C>G (p.Ser375Ter)
|
rs1475409165
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1133+13A>G
|
rs747939934
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1134-15C>G
|
rs766085711
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1136G>A (p.Gly379Asp)
|
rs1296158476
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1178G>A (p.Arg393Gln)
|
rs376513788
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1200+12G>A
|
rs746266109
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1201-11C>A
|
rs894597785
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1201-1G>C
|
rs763586611
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1247T>C (p.Met416Thr)
|
rs1180613590
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1299C>A (p.Gly433=)
|
rs1482540009
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1301+10G>A
|
rs758288338
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1302-10C>T
|
rs1233846202
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1302-1G>C
|
rs764699064
|
0.00001
|
|
NM_001378030.1(CCDC78):c.151C>G (p.Leu51Val)
|
rs1064794620
|
0.00001
|
|
NM_001378030.1(CCDC78):c.169C>A (p.Gln57Lys)
|
rs1180264424
|
0.00001
|
|
NM_001378030.1(CCDC78):c.198C>T (p.Val66=)
|
rs753929100
|
0.00001
|
|
NM_001378030.1(CCDC78):c.1A>G (p.Met1Val)
|
rs768740042
|
0.00001
|
|
NM_001378030.1(CCDC78):c.211A>G (p.Thr71Ala)
|
rs750616701
|
0.00001
|
|
NM_001378030.1(CCDC78):c.217C>T (p.His73Tyr)
|
rs1477528084
|
0.00001
|
|
NM_001378030.1(CCDC78):c.238G>A (p.Glu80Lys)
|
rs549450998
|
0.00001
|
|
NM_001378030.1(CCDC78):c.240G>A (p.Glu80=)
|
rs1366295901
|
0.00001
|
|
NM_001378030.1(CCDC78):c.247A>G (p.Ile83Val)
|
rs558878970
|
0.00001
|
|
NM_001378030.1(CCDC78):c.256C>G (p.Leu86Val)
|
rs748438652
|
0.00001
|
|
NM_001378030.1(CCDC78):c.267+3G>A
|
rs749827376
|
0.00001
|
|
NM_001378030.1(CCDC78):c.268-19C>A
|
rs1396117099
|
0.00001
|
|
NM_001378030.1(CCDC78):c.286C>T (p.Arg96Trp)
|
rs767068294
|
0.00001
|
|
NM_001378030.1(CCDC78):c.28A>G (p.Arg10Gly)
|
rs769964986
|
0.00001
|
|
NM_001378030.1(CCDC78):c.307C>T (p.Arg103Ter)
|
rs776512977
|
0.00001
|
|
NM_001378030.1(CCDC78):c.327G>C (p.Gln109His)
|
rs1246634377
|
0.00001
|
|
NM_001378030.1(CCDC78):c.328G>T (p.Gly110Cys)
|
rs777956994
|
0.00001
|
|
NM_001378030.1(CCDC78):c.330C>T (p.Gly110=)
|
rs1196046646
|
0.00001
|
|
NM_001378030.1(CCDC78):c.344T>C (p.Val115Ala)
|
rs779855089
|
0.00001
|
|
NM_001378030.1(CCDC78):c.34G>T (p.Gly12Ter)
|
rs1014643433
|
0.00001
|
|
NM_001378030.1(CCDC78):c.40C>T (p.Pro14Ser)
|
rs2040942356
|
0.00001
|
|
NM_001378030.1(CCDC78):c.433C>T (p.Gln145Ter)
|
rs745710346
|
0.00001
|
|
NM_001378030.1(CCDC78):c.435+13A>G
|
rs966308561
|
0.00001
|
|
NM_001378030.1(CCDC78):c.435+7A>G
|
rs751070375
|
0.00001
|
|
NM_001378030.1(CCDC78):c.436-2A>G
|
rs778608633
|
0.00001
|
|
NM_001378030.1(CCDC78):c.462C>T (p.Pro154=)
|
rs199585619
|
0.00001
|
|
NM_001378030.1(CCDC78):c.492+6T>C
|
rs1283039950
|
0.00001
|
|
NM_001378030.1(CCDC78):c.493-8C>T
|
rs1455612703
|
0.00001
|
|
NM_001378030.1(CCDC78):c.509A>T (p.Lys170Met)
|
rs1555486210
|
0.00001
|
|
NM_001378030.1(CCDC78):c.51G>A (p.Arg17=)
|
rs949623191
|
0.00001
|
|
NM_001378030.1(CCDC78):c.536G>A (p.Arg179Gln)
|
rs560987339
|
0.00001
|
|
NM_001378030.1(CCDC78):c.552G>A (p.Val184=)
|
rs528171965
|
0.00001
|
|
NM_001378030.1(CCDC78):c.560+11A>G
|
rs745530216
|
0.00001
|
|
NM_001378030.1(CCDC78):c.561-9T>C
|
rs1294551214
|
0.00001
|
|
NM_001378030.1(CCDC78):c.61-14C>T
|
rs750092405
|
0.00001
|
|
NM_001378030.1(CCDC78):c.61-4C>A
|
rs1227878128
|
0.00001
|
|
NM_001378030.1(CCDC78):c.628A>T (p.Thr210Ser)
|
rs375138705
|
0.00001
|
|
NM_001378030.1(CCDC78):c.640-11T>G
|
rs375444284
|
0.00001
|
|
NM_001378030.1(CCDC78):c.640-13G>A
|
rs775362271
|
0.00001
|
|
NM_001378030.1(CCDC78):c.658G>A (p.Gly220Ser)
|
rs1374522692
|
0.00001
|
|
NM_001378030.1(CCDC78):c.707T>C (p.Leu236Pro)
|
rs1352546137
|
0.00001
|
|
NM_001378030.1(CCDC78):c.736C>G (p.Arg246Gly)
|
rs749095737
|
0.00001
|
|
NM_001378030.1(CCDC78):c.760G>A (p.Ala254Thr)
|
rs1338935088
|
0.00001
|
|
NM_001378030.1(CCDC78):c.763G>A (p.Val255Met)
|
rs763349441
|
0.00001
|
|
NM_001378030.1(CCDC78):c.763_765+5del
|
rs1406110108
|
0.00001
|
|
NM_001378030.1(CCDC78):c.765+19C>T
|
rs760813011
|
0.00001
|
|
NM_001378030.1(CCDC78):c.765+7C>A
|
rs1158312264
|
0.00001
|
|
NM_001378030.1(CCDC78):c.765+8C>G
|
rs753039480
|
0.00001
|
|
NM_001378030.1(CCDC78):c.767A>G (p.Glu256Gly)
|
rs1374510953
|
0.00001
|
|
NM_001378030.1(CCDC78):c.771C>T (p.His257=)
|
rs747763912
|
0.00001
|
|
NM_001378030.1(CCDC78):c.772G>A (p.Ala258Thr)
|
rs778696812
|
0.00001
|
|
NM_001378030.1(CCDC78):c.804G>A (p.Thr268=)
|
rs767497873
|
0.00001
|
|
NM_001378030.1(CCDC78):c.827C>T (p.Ala276Val)
|
rs562625664
|
0.00001
|
|
NM_001378030.1(CCDC78):c.828G>A (p.Ala276=)
|
rs746959349
|
0.00001
|
|
NM_001378030.1(CCDC78):c.844C>T (p.Arg282Trp)
|
rs747752625
|
0.00001
|
|
NM_001378030.1(CCDC78):c.851C>T (p.Ala284Val)
|
rs749614530
|
0.00001
|
|
NM_001378030.1(CCDC78):c.882G>A (p.Arg294=)
|
rs958395578
|
0.00001
|
|
NM_001378030.1(CCDC78):c.886G>A (p.Ala296Thr)
|
rs1395442564
|
0.00001
|
|
NM_001378030.1(CCDC78):c.910G>C (p.Val304Leu)
|
rs1014754418
|
0.00001
|
|
NM_001378030.1(CCDC78):c.923G>A (p.Arg308His)
|
rs151049173
|
0.00001
|
|
NM_001378030.1(CCDC78):c.930T>G (p.His310Gln)
|
rs750273057
|
0.00001
|
|
NM_001378030.1(CCDC78):c.934G>A (p.Glu312Lys)
|
rs767319981
|
0.00001
|
|
NM_001378030.1(CCDC78):c.973G>C (p.Ala325Pro)
|
rs780197880
|
0.00001
|
|
NM_001382567.1(STIM1):c.1025A>G (p.Tyr342Cys)
|
rs1565170451
|
0.00001
|
|
NM_001382567.1(STIM1):c.1071G>A (p.Val357=)
|
rs1288963987
|
0.00001
|
|
NM_001382567.1(STIM1):c.1075G>C (p.Val359Leu)
|
rs1565170474
|
0.00001
|
|
NM_001382567.1(STIM1):c.107C>T (p.Ser36Leu)
|
rs200907515
|
0.00001
|
|
NM_001382567.1(STIM1):c.1089C>T (p.Asn363=)
|
rs376193363
|
0.00001
|
|
NM_001382567.1(STIM1):c.110G>C (p.Gly37Ala)
|
rs201156770
|
0.00001
|
|
NM_001382567.1(STIM1):c.111G>A (p.Gly37=)
|
rs201909794
|
0.00001
|
|
NM_001382567.1(STIM1):c.1125G>T (p.Val375=)
|
rs201975335
|
0.00001
|
|
NM_001382567.1(STIM1):c.1134G>A (p.Glu378=)
|
rs920883663
|
0.00001
|
|
NM_001382567.1(STIM1):c.1137+3G>A
|
rs199831332
|
0.00001
|
|
NM_001382567.1(STIM1):c.1154A>G (p.Lys385Arg)
|
rs768311695
|
0.00001
|
|
NM_001382567.1(STIM1):c.1175G>C (p.Gly392Ala)
|
rs1464170461
|
0.00001
|
|
NM_001382567.1(STIM1):c.1185C>T (p.His395=)
|
rs1027836784
|
0.00001
|
|
NM_001382567.1(STIM1):c.1186G>A (p.Val396Met)
|
rs1430915758
|
0.00001
|
|
NM_001382567.1(STIM1):c.1206G>A (p.Leu402=)
|
rs760051786
|
0.00001
|
|
NM_001382567.1(STIM1):c.1238+10A>C
|
rs201116081
|
0.00001
|
|
NM_001382567.1(STIM1):c.1239-10C>T
|
rs201644728
|
0.00001
|
|
NM_001382567.1(STIM1):c.1252G>A (p.Glu418Lys)
|
rs774565443
|
0.00001
|
|
NM_001382567.1(STIM1):c.1270C>T (p.Arg424Trp)
|
rs200892145
|
0.00001
|
|
NM_001382567.1(STIM1):c.1291C>A (p.Gln431Lys)
|
rs199666087
|
0.00001
|
|
NM_001382567.1(STIM1):c.1299C>T (p.Ile433=)
|
rs200738706
|
0.00001
|
|
NM_001382567.1(STIM1):c.1305C>T (p.Ile435=)
|
rs199801171
|
0.00001
|
|
NM_001382567.1(STIM1):c.1317C>T (p.Phe439=)
|
rs1179975549
|
0.00001
|
|
NM_001382567.1(STIM1):c.1337G>A (p.Gly446Asp)
|
rs1411280995
|
0.00001
|
|
NM_001382567.1(STIM1):c.139+16G>A
|
rs754570282
|
0.00001
|
|
NM_001382567.1(STIM1):c.1429G>A (p.Val477Met)
|
rs199963821
|
0.00001
|
|
NM_001382567.1(STIM1):c.1439T>C (p.Met480Thr)
|
rs762820296
|
0.00001
|
|
NM_001382567.1(STIM1):c.1447G>A (p.Glu483Lys)
|
rs1449184284
|
0.00001
|
|
NM_001382567.1(STIM1):c.149G>A (p.Arg50Gln)
|
rs201245746
|
0.00001
|
|
NM_001382567.1(STIM1):c.1615C>T (p.His539Tyr)
|
rs1343386197
|
0.00001
|
|
NM_001382567.1(STIM1):c.1616A>G (p.His539Arg)
|
rs2094494239
|
0.00001
|
|
NM_001382567.1(STIM1):c.1623G>A (p.Leu541=)
|
rs747948099
|
0.00001
|
|
NM_001382567.1(STIM1):c.1636G>T (p.Asp546Tyr)
|
rs534419041
|
0.00001
|
|
NM_001382567.1(STIM1):c.1653T>C (p.Asp551=)
|
rs1304754642
|
0.00001
|
|
NM_001382567.1(STIM1):c.1655C>T (p.Ser552Leu)
|
rs745539009
|
0.00001
|
|
NM_001382567.1(STIM1):c.1682G>A (p.Arg561His)
|
rs746517083
|
0.00001
|
|
NM_001382567.1(STIM1):c.1687C>T (p.Arg563Cys)
|
rs202166909
|
0.00001
|
|
NM_001382567.1(STIM1):c.1688G>A (p.Arg563His)
|
rs771442242
|
0.00001
|
|
NM_001382567.1(STIM1):c.1712T>C (p.Met571Thr)
|
rs1390592487
|
0.00001
|
|
NM_001382567.1(STIM1):c.1718G>A (p.Arg573His)
|
rs202147687
|
0.00001
|
|
NM_001382567.1(STIM1):c.1719T>A (p.Arg573=)
|
rs200164426
|
0.00001
|
|
NM_001382567.1(STIM1):c.1725A>G (p.Ala575=)
|
rs146393409
|
0.00001
|
|
NM_001382567.1(STIM1):c.1728C>T (p.Asp576=)
|
rs542778043
|
0.00001
|
|
NM_001382567.1(STIM1):c.1754A>G (p.Asn585Ser)
|
rs748820994
|
0.00001
|
|
NM_001382567.1(STIM1):c.1774G>A (p.Glu592Lys)
|
rs200557274
|
0.00001
|
|
NM_001382567.1(STIM1):c.1822G>A (p.Ala608Thr)
|
rs2094524790
|
0.00001
|
|
NM_001382567.1(STIM1):c.1873C>T (p.His625Tyr)
|
rs201838782
|
0.00001
|
|
NM_001382567.1(STIM1):c.1892G>A (p.Ser631Asn)
|
rs376050145
|
0.00001
|
|
NM_001382567.1(STIM1):c.1893C>T (p.Ser631=)
|
rs781756003
|
0.00001
|
|
NM_001382567.1(STIM1):c.1901C>T (p.Ala634Val)
|
rs749622475
|
0.00001
|
|
NM_001382567.1(STIM1):c.1912G>A (p.Gly638Ser)
|
rs200324378
|
0.00001
|
|
NM_001382567.1(STIM1):c.1932T>C (p.Ser644=)
|
rs1367856839
|
0.00001
|
|
NM_001382567.1(STIM1):c.1935C>T (p.Ser645=)
|
rs766224297
|
0.00001
|
|
NM_001382567.1(STIM1):c.1960G>A (p.Asp654Asn)
|
rs765041336
|
0.00001
|
|
NM_001382567.1(STIM1):c.2011C>T (p.Arg671Ter)
|
rs930699942
|
0.00001
|
|
NM_001382567.1(STIM1):c.2012G>A (p.Arg671Gln)
|
rs769001716
|
0.00001
|
|
NM_001382567.1(STIM1):c.2017A>G (p.Thr673Ala)
|
rs1018411314
|
0.00001
|
|
NM_001382567.1(STIM1):c.2026C>G (p.Pro676Ala)
|
rs1164327463
|
0.00001
|
|
NM_001382567.1(STIM1):c.205C>T (p.Arg69Cys)
|
rs201061396
|
0.00001
|
|
NM_001382567.1(STIM1):c.2062G>A (p.Asp688Asn)
|
rs142357642
|
0.00001
|
|
NM_001382567.1(STIM1):c.2093C>G (p.Ser698Cys)
|
rs766934652
|
0.00001
|
|
NM_001382567.1(STIM1):c.2102G>A (p.Gly701Asp)
|
rs1355379737
|
0.00001
|
|
NM_001382567.1(STIM1):c.2125A>T (p.Ile709Phe)
|
rs747118337
|
0.00001
|
|
NM_001382567.1(STIM1):c.2142T>C (p.Leu714=)
|
rs199935070
|
0.00001
|
|
NM_001382567.1(STIM1):c.228C>T (p.Asp76=)
|
rs749540812
|
0.00001
|
|
NM_001382567.1(STIM1):c.22G>A (p.Ala8Thr)
|
rs751520286
|
0.00001
|
|
NM_001382567.1(STIM1):c.238A>G (p.Asn80Asp)
|
rs1029278195
|
0.00001
|
|
NM_001382567.1(STIM1):c.295C>T (p.His99Tyr)
|
rs1440304974
|
0.00001
|
|
NM_001382567.1(STIM1):c.300C>T (p.Asp100=)
|
rs200658405
|
0.00001
|
|
NM_001382567.1(STIM1):c.340C>T (p.Leu114Phe)
|
rs201767533
|
0.00001
|
|
NM_001382567.1(STIM1):c.348C>T (p.Ser116=)
|
rs200075076
|
0.00001
|
|
NM_001382567.1(STIM1):c.385+7G>A
|
rs370889167
|
0.00001
|
|
NM_001382567.1(STIM1):c.399C>T (p.Thr133=)
|
rs199513192
|
0.00001
|
|
NM_001382567.1(STIM1):c.400G>A (p.Val134Met)
|
rs200351944
|
0.00001
|
|
NM_001382567.1(STIM1):c.414A>G (p.Val138=)
|
rs1319501573
|
0.00001
|
|
NM_001382567.1(STIM1):c.463C>T (p.Arg155Trp)
|
rs747832260
|
0.00001
|
|
NM_001382567.1(STIM1):c.474G>A (p.Gln158=)
|
rs1199018766
|
0.00001
|
|
NM_001382567.1(STIM1):c.498-4A>C
|
rs977105613
|
0.00001
|
|
NM_001382567.1(STIM1):c.498-4A>G
|
rs977105613
|
0.00001
|
|
NM_001382567.1(STIM1):c.531T>A (p.Thr177=)
|
rs767768485
|
0.00001
|
|
NM_001382567.1(STIM1):c.551G>A (p.Arg184Gln)
|
rs766441391
|
0.00001
|
|
NM_001382567.1(STIM1):c.580G>T (p.Ala194Ser)
|
rs1371053190
|
0.00001
|
|
NM_001382567.1(STIM1):c.605C>T (p.Pro202Leu)
|
rs1242032695
|
0.00001
|
|
NM_001382567.1(STIM1):c.613+11T>A
|
rs1048701700
|
0.00001
|
|
NM_001382567.1(STIM1):c.626A>G (p.Asn209Ser)
|
rs763916693
|
0.00001
|
|
NM_001382567.1(STIM1):c.62A>G (p.Gln21Arg)
|
rs201500852
|
0.00001
|
|
NM_001382567.1(STIM1):c.660C>T (p.Ile220=)
|
rs200982503
|
0.00001
|
|
NM_001382567.1(STIM1):c.670G>A (p.Val224Met)
|
rs1159817252
|
0.00001
|
|
NM_001382567.1(STIM1):c.675C>T (p.Gly225=)
|
rs151061361
|
0.00001
|
|
NM_001382567.1(STIM1):c.704G>A (p.Arg235His)
|
rs764002968
|
0.00001
|
|
NM_001382567.1(STIM1):c.717G>A (p.Glu239=)
|
rs1255140437
|
0.00001
|
|
NM_001382567.1(STIM1):c.733A>G (p.Met245Val)
|
rs755714206
|
0.00001
|
|
NM_001382567.1(STIM1):c.744G>A (p.Leu248=)
|
rs764311095
|
0.00001
|
|
NM_001382567.1(STIM1):c.767A>G (p.Gln256Arg)
|
rs201576757
|
0.00001
|
|
NM_001382567.1(STIM1):c.798C>A (p.His266Gln)
|
rs199615736
|
0.00001
|
|
NM_001382567.1(STIM1):c.818G>A (p.Arg273His)
|
rs765987346
|
0.00001
|
|
NM_001382567.1(STIM1):c.909G>A (p.Leu303=)
|
rs1402539076
|
0.00001
|
|
NM_001382567.1(STIM1):c.912G>C (p.Arg304=)
|
rs533692595
|
0.00001
|
|
NM_001382567.1(STIM1):c.931C>T (p.Arg311Trp)
|
rs770698758
|
0.00001
|
|
NM_001382567.1(STIM1):c.937C>T (p.Arg313Cys)
|
rs1248955977
|
0.00001
|
|
NM_001382567.1(STIM1):c.969+15A>T
|
rs1457105275
|
0.00001
|
|
NM_001382567.1(STIM1):c.970-16C>A
|
rs201003963
|
0.00001
|
|
NM_001382567.1(STIM1):c.9A>G (p.Val3=)
|
rs765248656
|
0.00001
|
|
NM_001458.5(FLNC):c.1019A>G (p.Tyr340Cys)
|
rs1362619480
|
0.00001
|
|
NM_001458.5(FLNC):c.1048-9G>A
|
rs897884333
|
0.00001
|
|
NM_001458.5(FLNC):c.1052C>T (p.Thr351Ile)
|
rs1309343033
|
0.00001
|
|
NM_001458.5(FLNC):c.1054G>A (p.Val352Met)
|
rs773023988
|
0.00001
|
|
NM_001458.5(FLNC):c.1059C>G (p.Leu353=)
|
rs760418462
|
0.00001
|
|
NM_001458.5(FLNC):c.1073A>G (p.Asn358Ser)
|
rs766196208
|
0.00001
|
|
NM_001458.5(FLNC):c.1089C>T (p.Pro363=)
|
rs1016218211
|
0.00001
|
|
NM_001458.5(FLNC):c.1097T>C (p.Val366Ala)
|
rs1324323411
|
0.00001
|
|
NM_001458.5(FLNC):c.1128C>A (p.Asn376Lys)
|
rs773165378
|
0.00001
|
|
NM_001458.5(FLNC):c.1169A>G (p.Asn390Ser)
|
rs188905854
|
0.00001
|
|
NM_001458.5(FLNC):c.1171G>A (p.Val391Met)
|
rs757887021
|
0.00001
|
|
NM_001458.5(FLNC):c.1176C>T (p.Ala392=)
|
rs767977714
|
0.00001
|
|
NM_001458.5(FLNC):c.1184C>T (p.Pro395Leu)
|
rs750881912
|
0.00001
|
|
NM_001458.5(FLNC):c.1186A>G (p.Thr396Ala)
|
rs1437029966
|
0.00001
|
|
NM_001458.5(FLNC):c.1197C>T (p.Asp399=)
|
rs756546984
|
0.00001
|
|
NM_001458.5(FLNC):c.1210+10G>T
|
rs562941732
|
0.00001
|
|
NM_001458.5(FLNC):c.1210+13C>T
|
rs775741829
|
0.00001
|
|
NM_001458.5(FLNC):c.1210+19G>C
|
rs1174673304
|
0.00001
|
|
NM_001458.5(FLNC):c.1216G>A (p.Gly406Ser)
|
rs1343684536
|
0.00001
|
|
NM_001458.5(FLNC):c.1224C>T (p.Gly408=)
|
rs1412295566
|
0.00001
|
|
NM_001458.5(FLNC):c.125T>C (p.Phe42Ser)
|
rs777706683
|
0.00001
|
|
NM_001458.5(FLNC):c.1262G>A (p.Arg421Gln)
|
rs751236317
|
0.00001
|
|
NM_001458.5(FLNC):c.126C>T (p.Phe42=)
|
rs746857110
|
0.00001
|
|
NM_001458.5(FLNC):c.1304C>T (p.Thr435Met)
|
rs199935488
|
0.00001
|
|
NM_001458.5(FLNC):c.1310G>A (p.Arg437His)
|
rs370138936
|
0.00001
|
|
NM_001458.5(FLNC):c.1328C>T (p.Ala443Val)
|
rs1808207788
|
0.00001
|
|
NM_001458.5(FLNC):c.1353T>C (p.His451=)
|
rs1181457724
|
0.00001
|
|
NM_001458.5(FLNC):c.1364C>T (p.Ala455Val)
|
rs777210524
|
0.00001
|
|
NM_001458.5(FLNC):c.1367G>T (p.Gly456Val)
|
rs765622614
|
0.00001
|
|
NM_001458.5(FLNC):c.1392C>T (p.Phe464=)
|
rs910678755
|
0.00001
|
|
NM_001458.5(FLNC):c.1398C>T (p.Val466=)
|
rs942095368
|
0.00001
|
|
NM_001458.5(FLNC):c.1406C>T (p.Ser469Leu)
|
rs1279257124
|
0.00001
|
|
NM_001458.5(FLNC):c.1407G>A (p.Ser469=)
|
rs766168758
|
0.00001
|
|
NM_001458.5(FLNC):c.1411+20C>G
|
rs1434883225
|
0.00001
|
|
NM_001458.5(FLNC):c.1412-3del
|
rs765490580
|
0.00001
|
|
NM_001458.5(FLNC):c.1412-5C>T
|
rs765122668
|
0.00001
|
|
NM_001458.5(FLNC):c.1418A>G (p.Asn473Ser)
|
rs747289343
|
0.00001
|
|
NM_001458.5(FLNC):c.141T>C (p.Asn47=)
|
rs1331955110
|
0.00001
|
|
NM_001458.5(FLNC):c.1426G>T (p.Ala476Ser)
|
rs746359389
|
0.00001
|
|
NM_001458.5(FLNC):c.1430G>C (p.Cys477Ser)
|
rs560530105
|
0.00001
|
|
NM_001458.5(FLNC):c.1432C>T (p.Arg478Cys)
|
rs780542423
|
0.00001
|
|
NM_001458.5(FLNC):c.1433G>A (p.Arg478His)
|
rs749593461
|
0.00001
|
|
NM_001458.5(FLNC):c.1435G>A (p.Ala479Thr)
|
rs772697482
|
0.00001
|
|
NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys)
|
rs1422233407
|
0.00001
|
|
NM_001458.5(FLNC):c.1469G>A (p.Arg490His)
|
rs1046320257
|
0.00001
|
|
NM_001458.5(FLNC):c.1470C>T (p.Arg490=)
|
rs765212618
|
0.00001
|
|
NM_001458.5(FLNC):c.1506G>A (p.Lys502=)
|
rs749823564
|
0.00001
|
|
NM_001458.5(FLNC):c.1508G>A (p.Gly503Asp)
|
rs1483134760
|
0.00001
|
|
NM_001458.5(FLNC):c.1518C>T (p.Ser506=)
|
rs368101036
|
0.00001
|
|
NM_001458.5(FLNC):c.152A>G (p.Lys51Arg)
|
rs1807854319
|
0.00001
|
|
NM_001458.5(FLNC):c.1536G>A (p.Thr512=)
|
rs1335788654
|
0.00001
|
|
NM_001458.5(FLNC):c.1553G>A (p.Gly518Asp)
|
rs1168879153
|
0.00001
|
|
NM_001458.5(FLNC):c.1591G>A (p.Gly531Ser)
|
rs779855512
|
0.00001
|
|
NM_001458.5(FLNC):c.1599C>T (p.Phe533=)
|
rs768072902
|
0.00001
|
|
NM_001458.5(FLNC):c.1609T>G (p.Tyr537Asp)
|
rs760471547
|
0.00001
|
|
NM_001458.5(FLNC):c.161G>A (p.Gly54Asp)
|
rs1032152678
|
0.00001
|
|
NM_001458.5(FLNC):c.1632G>A (p.Lys544=)
|
rs566538377
|
0.00001
|
|
NM_001458.5(FLNC):c.163A>C (p.Lys55Gln)
|
rs769870285
|
0.00001
|
|
NM_001458.5(FLNC):c.1663G>A (p.Ala555Thr)
|
rs1163059574
|
0.00001
|
|
NM_001458.5(FLNC):c.1676+13C>T
|
rs927536334
|
0.00001
|
|
NM_001458.5(FLNC):c.1676+15C>T
|
rs763127950
|
0.00001
|
|
NM_001458.5(FLNC):c.1729T>G (p.Trp577Gly)
|
rs757878206
|
0.00001
|
|
NM_001458.5(FLNC):c.1749T>C (p.Thr583=)
|
rs781196373
|
0.00001
|
|
NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu)
|
rs780098760
|
0.00001
|
|
NM_001458.5(FLNC):c.1771G>A (p.Asp591Asn)
|
rs768829742
|
0.00001
|
|
NM_001458.5(FLNC):c.1782G>A (p.Val594=)
|
rs1317106205
|
0.00001
|
|
NM_001458.5(FLNC):c.1797C>T (p.Thr599=)
|
rs773793586
|
0.00001
|
|
NM_001458.5(FLNC):c.1813+10T>A
|
rs756806116
|
0.00001
|
|
NM_001458.5(FLNC):c.1818C>T (p.Phe606=)
|
rs1404509377
|
0.00001
|
|
NM_001458.5(FLNC):c.1822A>G (p.Ile608Val)
|
rs779240577
|
0.00001
|
|
NM_001458.5(FLNC):c.1825G>A (p.Glu609Lys)
|
rs758389160
|
0.00001
|
|
NM_001458.5(FLNC):c.1840G>A (p.Ala614Thr)
|
rs746183882
|
0.00001
|
|
NM_001458.5(FLNC):c.185G>A (p.Arg62His)
|
rs1308771065
|
0.00001
|
|
NM_001458.5(FLNC):c.1867G>A (p.Asp623Asn)
|
rs912680912
|
0.00001
|
|
NM_001458.5(FLNC):c.1879G>A (p.Asp627Asn)
|
rs1256634062
|
0.00001
|
|
NM_001458.5(FLNC):c.1898C>T (p.Thr633Met)
|
rs1187790496
|
0.00001
|
|
NM_001458.5(FLNC):c.1899G>A (p.Thr633=)
|
rs553903798
|
0.00001
|
|
NM_001458.5(FLNC):c.1910A>G (p.Glu637Gly)
|
rs536328437
|
0.00001
|
|
NM_001458.5(FLNC):c.192C>G (p.Leu64=)
|
rs1172570582
|
0.00001
|
|
NM_001458.5(FLNC):c.1948C>G (p.Arg650Gly)
|
rs770606675
|
0.00001
|
|
NM_001458.5(FLNC):c.196G>T (p.Asp66Tyr)
|
rs1373245749
|
0.00001
|
|
NM_001458.5(FLNC):c.1979C>T (p.Pro660Leu)
|
rs775292418
|
0.00001
|
|
NM_001458.5(FLNC):c.198C>T (p.Asp66=)
|
rs764772679
|
0.00001
|
|
NM_001458.5(FLNC):c.2008-12C>T
|
rs774607151
|
0.00001
|
|
NM_001458.5(FLNC):c.2008-14T>G
|
rs1057460428
|
0.00001
|
|
NM_001458.5(FLNC):c.2023C>T (p.Pro675Ser)
|
rs1227192105
|
0.00001
|
|
NM_001458.5(FLNC):c.2029C>G (p.Leu677Val)
|
rs754331955
|
0.00001
|
|
NM_001458.5(FLNC):c.2050G>A (p.Val684Met)
|
rs769221710
|
0.00001
|
|
NM_001458.5(FLNC):c.2061C>T (p.Pro687=)
|
rs545269561
|
0.00001
|
|
NM_001458.5(FLNC):c.2063C>T (p.Ala688Val)
|
rs772223832
|
0.00001
|
|
NM_001458.5(FLNC):c.2065G>A (p.Glu689Lys)
|
rs1446694237
|
0.00001
|
|
NM_001458.5(FLNC):c.2081C>T (p.Ala694Val)
|
rs1315847764
|
0.00001
|
|
NM_001458.5(FLNC):c.2112C>G (p.Leu704=)
|
rs758859689
|
0.00001
|
|
NM_001458.5(FLNC):c.2114A>C (p.Tyr705Ser)
|
rs368473600
|
0.00001
|
|
NM_001458.5(FLNC):c.2121+4G>A
|
rs372098008
|
0.00001
|
|
NM_001458.5(FLNC):c.2121+5G>A
|
rs376348610
|
0.00001
|
|
NM_001458.5(FLNC):c.2127C>T (p.Ala709=)
|
rs753225379
|
0.00001
|
|
NM_001458.5(FLNC):c.2141T>C (p.Ile714Thr)
|
rs1554398541
|
0.00001
|
|
NM_001458.5(FLNC):c.214G>A (p.Ala72Thr)
|
rs751548628
|
0.00001
|
|
NM_001458.5(FLNC):c.2169C>T (p.Asp723=)
|
rs377553322
|
0.00001
|
|
NM_001458.5(FLNC):c.2170G>A (p.Gly724Ser)
|
rs764774528
|
0.00001
|
|
NM_001458.5(FLNC):c.2175C>G (p.Thr725=)
|
rs957405389
|
0.00001
|
|
NM_001458.5(FLNC):c.2179C>T (p.Arg727Cys)
|
rs752627571
|
0.00001
|
|
NM_001458.5(FLNC):c.2191G>A (p.Val731Met)
|
rs757110783
|
0.00001
|
|
NM_001458.5(FLNC):c.2202G>A (p.Lys734=)
|
rs769984017
|
0.00001
|
|
NM_001458.5(FLNC):c.2212C>G (p.His738Asp)
|
rs1236577531
|
0.00001
|
|
NM_001458.5(FLNC):c.2217C>T (p.Thr739=)
|
rs1169471172
|
0.00001
|
|
NM_001458.5(FLNC):c.222C>G (p.Leu74=)
|
rs965256172
|
0.00001
|
|
NM_001458.5(FLNC):c.2238C>T (p.Gly746=)
|
rs759243298
|
0.00001
|
|
NM_001458.5(FLNC):c.2245G>A (p.Val749Met)
|
rs763901270
|
0.00001
|
|
NM_001458.5(FLNC):c.2259C>T (p.Pro753=)
|
rs1585157340
|
0.00001
|
|
NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp)
|
rs990718751
|
0.00001
|
|
NM_001458.5(FLNC):c.2264G>A (p.Arg755Gln)
|
rs781101985
|
0.00001
|
|
NM_001458.5(FLNC):c.2265+5G>A
|
rs1049500135
|
0.00001
|
|
NM_001458.5(FLNC):c.2265+7C>T
|
rs1477196021
|
0.00001
|
|
NM_001458.5(FLNC):c.2265+8C>T
|
rs1808370968
|
0.00001
|
|
NM_001458.5(FLNC):c.2266-11C>T
|
rs1201885833
|
0.00001
|
|
NM_001458.5(FLNC):c.2277C>T (p.Gly759=)
|
rs534989876
|
0.00001
|
|
NM_001458.5(FLNC):c.2278G>A (p.Glu760Lys)
|
rs772574007
|
0.00001
|
|
NM_001458.5(FLNC):c.227T>G (p.Val76Gly)
|
rs1011301530
|
0.00001
|
|
NM_001458.5(FLNC):c.2287C>T (p.His763Tyr)
|
rs1380984220
|
0.00001
|
|
NM_001458.5(FLNC):c.2293G>A (p.Glu765Lys)
|
rs373798394
|
0.00001
|
|
NM_001458.5(FLNC):c.2305G>T (p.Val769Leu)
|
rs1046022647
|
0.00001
|
|
NM_001458.5(FLNC):c.2307G>A (p.Val769=)
|
rs906089015
|
0.00001
|
|
NM_001458.5(FLNC):c.2317G>A (p.Gly773Arg)
|
rs1322212555
|
0.00001
|
|
NM_001458.5(FLNC):c.2329A>G (p.Thr777Ala)
|
rs1220603614
|
0.00001
|
|
NM_001458.5(FLNC):c.232A>C (p.Ser78Arg)
|
rs746082496
|
0.00001
|
|
NM_001458.5(FLNC):c.2344A>G (p.Asn782Asp)
|
rs1055062421
|
0.00001
|
|
NM_001458.5(FLNC):c.2345A>G (p.Asn782Ser)
|
rs767436158
|
0.00001
|
|
NM_001458.5(FLNC):c.2353A>G (p.Thr785Ala)
|
rs1808384296
|
0.00001
|
|
NM_001458.5(FLNC):c.2361C>G (p.Phe787Leu)
|
rs1471063024
|
0.00001
|
|
NM_001458.5(FLNC):c.2363C>T (p.Thr788Met)
|
rs1010774264
|
0.00001
|
|
NM_001458.5(FLNC):c.2375G>T (p.Ser792Ile)
|
rs1227658348
|
0.00001
|
|
NM_001458.5(FLNC):c.2376C>T (p.Ser792=)
|
rs754097557
|
0.00001
|
|
NM_001458.5(FLNC):c.2380G>A (p.Ala794Thr)
|
rs1198975298
|
0.00001
|
|
NM_001458.5(FLNC):c.2385G>T (p.Gly795=)
|
rs758439866
|
0.00001
|
|
NM_001458.5(FLNC):c.2389+4C>T
|
rs1057523921
|
0.00001
|
|
NM_001458.5(FLNC):c.2400C>A (p.Ser800Arg)
|
rs748717566
|
0.00001
|
|
NM_001458.5(FLNC):c.2404G>A (p.Gly802Ser)
|
rs371398126
|
0.00001
|
|
NM_001458.5(FLNC):c.2406C>T (p.Gly802=)
|
rs770943809
|
0.00001
|
|
NM_001458.5(FLNC):c.2416G>A (p.Ala806Thr)
|
rs1386986739
|
0.00001
|
|
NM_001458.5(FLNC):c.2421A>G (p.Pro807=)
|
rs1585157908
|
0.00001
|
|
NM_001458.5(FLNC):c.2424C>T (p.Gly808=)
|
rs764991202
|
0.00001
|
|
NM_001458.5(FLNC):c.2427G>T (p.Val809=)
|
rs901910589
|
0.00001
|
|
NM_001458.5(FLNC):c.2489C>T (p.Thr830Ile)
|
rs1367245869
|
0.00001
|
|
NM_001458.5(FLNC):c.2502G>A (p.Thr834=)
|
rs984526805
|
0.00001
|
|
NM_001458.5(FLNC):c.2514G>A (p.Ala838=)
|
rs762824697
|
0.00001
|
|
NM_001458.5(FLNC):c.2516G>A (p.Gly839Asp)
|
rs940353148
|
0.00001
|
|
NM_001458.5(FLNC):c.2557C>T (p.Pro853Ser)
|
rs374302753
|
0.00001
|
|
NM_001458.5(FLNC):c.2587C>G (p.Pro863Ala)
|
rs754750752
|
0.00001
|
|
NM_001458.5(FLNC):c.2599G>A (p.Ala867Thr)
|
rs772127988
|
0.00001
|
|
NM_001458.5(FLNC):c.2617G>A (p.Glu873Lys)
|
rs771092335
|
0.00001
|
|
NM_001458.5(FLNC):c.2627G>T (p.Gly876Val)
|
rs534407127
|
0.00001
|
|
NM_001458.5(FLNC):c.2636G>A (p.Arg879His)
|
rs367997079
|
0.00001
|
|
NM_001458.5(FLNC):c.2639C>T (p.Thr880Ile)
|
rs1324832799
|
0.00001
|
|
NM_001458.5(FLNC):c.263C>A (p.Pro88Gln)
|
rs1807860720
|
0.00001
|
|
NM_001458.5(FLNC):c.2641+7G>T
|
rs775941446
|
0.00001
|
|
NM_001458.5(FLNC):c.2642-18C>T
|
rs202220457
|
0.00001
|
|
NM_001458.5(FLNC):c.2642-3C>T
|
rs1808423104
|
0.00001
|
|
NM_001458.5(FLNC):c.2642G>T (p.Gly881Val)
|
rs377095070
|
0.00001
|
|
NM_001458.5(FLNC):c.2650G>T (p.Val884Phe)
|
rs770379589
|
0.00001
|
|
NM_001458.5(FLNC):c.2653G>A (p.Gly885Arg)
|
rs769110628
|
0.00001
|
|
NM_001458.5(FLNC):c.2655G>A (p.Gly885=)
|
rs1034531656
|
0.00001
|
|
NM_001458.5(FLNC):c.2661C>T (p.Pro887=)
|
rs772723929
|
0.00001
|
|
NM_001458.5(FLNC):c.2666A>G (p.His889Arg)
|
rs1808424297
|
0.00001
|
|
NM_001458.5(FLNC):c.2672C>T (p.Thr891Met)
|
rs766023596
|
0.00001
|
|
NM_001458.5(FLNC):c.2674G>A (p.Val892Met)
|
rs200986712
|
0.00001
|
|
NM_001458.5(FLNC):c.268C>T (p.Pro90Ser)
|
rs1292076381
|
0.00001
|
|
NM_001458.5(FLNC):c.2717T>C (p.Phe906Ser)
|
rs1212936871
|
0.00001
|
|
NM_001458.5(FLNC):c.2746C>T (p.Arg916Trp)
|
rs762095761
|
0.00001
|
|
NM_001458.5(FLNC):c.2767A>C (p.Asn923His)
|
rs1420123492
|
0.00001
|
|
NM_001458.5(FLNC):c.2780C>T (p.Ser927Phe)
|
rs1585158690
|
0.00001
|
|
NM_001458.5(FLNC):c.2796C>T (p.Tyr932=)
|
rs1371836474
|
0.00001
|
|
NM_001458.5(FLNC):c.2800G>A (p.Ala934Thr)
|
rs763954095
|
0.00001
|
|
NM_001458.5(FLNC):c.2811+4C>T
|
rs146715204
|
0.00001
|
|
NM_001458.5(FLNC):c.2811+5G>A
|
rs781538211
|
0.00001
|
|
NM_001458.5(FLNC):c.2812-14A>G
|
rs755042584
|
0.00001
|
|
NM_001458.5(FLNC):c.2821G>A (p.Ala941Thr)
|
rs1334463747
|
0.00001
|
|
NM_001458.5(FLNC):c.2838T>C (p.Tyr946=)
|
rs769390195
|
0.00001
|
|
NM_001458.5(FLNC):c.2874G>A (p.Val958=)
|
rs754046100
|
0.00001
|
|
NM_001458.5(FLNC):c.2884C>A (p.Pro962Thr)
|
rs765301554
|
0.00001
|
|
NM_001458.5(FLNC):c.2911G>A (p.Val971Ile)
|
rs548199973
|
0.00001
|
|
NM_001458.5(FLNC):c.2929+8G>A
|
rs1808445965
|
0.00001
|
|
NM_001458.5(FLNC):c.292G>C (p.Glu98Gln)
|
rs1195481399
|
0.00001
|
|
NM_001458.5(FLNC):c.2930-13G>A
|
rs367572660
|
0.00001
|
|
NM_001458.5(FLNC):c.2930A>G (p.Lys977Arg)
|
rs1808450221
|
0.00001
|
|
NM_001458.5(FLNC):c.2937T>A (p.Ala979=)
|
rs746977392
|
0.00001
|
|
NM_001458.5(FLNC):c.2967C>A (p.Asn989Lys)
|
rs775727204
|
0.00001
|
|
NM_001458.5(FLNC):c.2969C>T (p.Thr990Ile)
|
rs933349270
|
0.00001
|
|
NM_001458.5(FLNC):c.2982C>T (p.Gly994=)
|
rs947174901
|
0.00001
|
|
NM_001458.5(FLNC):c.2983G>A (p.Gly995Ser)
|
rs752053093
|
0.00001
|
|
NM_001458.5(FLNC):c.2999A>C (p.Asp1000Ala)
|
rs1457558516
|
0.00001
|
|
NM_001458.5(FLNC):c.3014C>T (p.Ser1005Leu)
|
rs752448040
|
0.00001
|
|
NM_001458.5(FLNC):c.3015G>A (p.Ser1005=)
|
rs1278675439
|
0.00001
|
|
NM_001458.5(FLNC):c.3033C>A (p.Ile1011=)
|
rs757092972
|
0.00001
|
|
NM_001458.5(FLNC):c.3045G>A (p.Leu1015=)
|
rs369511914
|
0.00001
|
|
NM_001458.5(FLNC):c.3054C>T (p.Gly1018=)
|
rs769624093
|
0.00001
|
|
NM_001458.5(FLNC):c.3067G>C (p.Ala1023Pro)
|
rs376107866
|
0.00001
|
|
NM_001458.5(FLNC):c.3080G>A (p.Arg1027His)
|
rs904161285
|
0.00001
|
|
NM_001458.5(FLNC):c.3102G>T (p.Gly1034=)
|
rs758066777
|
0.00001
|
|
NM_001458.5(FLNC):c.3114G>T (p.Val1038=)
|
rs376516180
|
0.00001
|
|
NM_001458.5(FLNC):c.3118A>G (p.Ile1040Val)
|
rs759012932
|
0.00001
|
|
NM_001458.5(FLNC):c.3126C>T (p.Tyr1042=)
|
rs745872537
|
0.00001
|
|
NM_001458.5(FLNC):c.3127G>A (p.Asp1043Asn)
|
rs755896041
|
0.00001
|
|
NM_001458.5(FLNC):c.312C>T (p.Leu104=)
|
rs762302204
|
0.00001
|
|
NM_001458.5(FLNC):c.3137C>T (p.Pro1046Leu)
|
rs768820218
|
0.00001
|
|
NM_001458.5(FLNC):c.3141G>A (p.Val1047=)
|
rs1554399057
|
0.00001
|
|
NM_001458.5(FLNC):c.3148A>G (p.Ser1050Gly)
|
rs773580485
|
0.00001
|
|
NM_001458.5(FLNC):c.3152C>T (p.Pro1051Leu)
|
rs546130026
|
0.00001
|
|
NM_001458.5(FLNC):c.3207C>T (p.Gly1069=)
|
rs753825183
|
0.00001
|
|
NM_001458.5(FLNC):c.3226C>T (p.Leu1076=)
|
rs777887406
|
0.00001
|
|
NM_001458.5(FLNC):c.3266G>A (p.Gly1089Glu)
|
rs1258543242
|
0.00001
|
|
NM_001458.5(FLNC):c.3268G>T (p.Ala1090Ser)
|
rs760158891
|
0.00001
|
|
NM_001458.5(FLNC):c.3313G>T (p.Ala1105Ser)
|
rs751887771
|
0.00001
|
|
NM_001458.5(FLNC):c.3317A>G (p.Lys1106Arg)
|
rs1349933620
|
0.00001
|
|
NM_001458.5(FLNC):c.3321C>T (p.Ile1107=)
|
rs775641996
|
0.00001
|
|
NM_001458.5(FLNC):c.3348A>T (p.Ser1116=)
|
rs1053209205
|
0.00001
|
|
NM_001458.5(FLNC):c.3375G>A (p.Glu1125=)
|
rs1317937683
|
0.00001
|
|
NM_001458.5(FLNC):c.3381C>T (p.Gly1127=)
|
rs1052000080
|
0.00001
|
|
NM_001458.5(FLNC):c.3387C>T (p.Tyr1129=)
|
rs765189701
|
0.00001
|
|
NM_001458.5(FLNC):c.3402G>C (p.Leu1134=)
|
rs1185395026
|
0.00001
|
|
NM_001458.5(FLNC):c.3428C>T (p.Ser1143Leu)
|
rs756192123
|
0.00001
|
|
NM_001458.5(FLNC):c.3429G>A (p.Ser1143=)
|
rs780592878
|
0.00001
|
|
NM_001458.5(FLNC):c.3467G>A (p.Ser1156Asn)
|
rs768725458
|
0.00001
|
|
NM_001458.5(FLNC):c.3475C>T (p.Arg1159Trp)
|
rs760500171
|
0.00001
|
|
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln)
|
rs141199483
|
0.00001
|
|
NM_001458.5(FLNC):c.3500G>A (p.Arg1167His)
|
rs574074583
|
0.00001
|
|
NM_001458.5(FLNC):c.3501C>T (p.Arg1167=)
|
rs544320561
|
0.00001
|
|
NM_001458.5(FLNC):c.3506A>G (p.Lys1169Arg)
|
rs530742766
|
0.00001
|
|
NM_001458.5(FLNC):c.3511G>A (p.Gly1171Ser)
|
rs769490872
|
0.00001
|
|
NM_001458.5(FLNC):c.3513T>C (p.Gly1171=)
|
rs1259009437
|
0.00001
|
|
NM_001458.5(FLNC):c.352+3C>T
|
rs750255204
|
0.00001
|
|
NM_001458.5(FLNC):c.3529A>G (p.Thr1177Ala)
|
rs748850596
|
0.00001
|
|
NM_001458.5(FLNC):c.353-6C>T
|
rs748284739
|
0.00001
|
|
NM_001458.5(FLNC):c.3553G>A (p.Glu1185Lys)
|
rs912926530
|
0.00001
|
|
NM_001458.5(FLNC):c.3558G>A (p.Ala1186=)
|
rs774467047
|
0.00001
|
|
NM_001458.5(FLNC):c.3589G>A (p.Gly1197Arg)
|
rs753812010
|
0.00001
|
|
NM_001458.5(FLNC):c.3600C>T (p.Ala1200=)
|
rs777931249
|
0.00001
|
|
NM_001458.5(FLNC):c.3654T>G (p.Pro1218=)
|
rs1357609481
|
0.00001
|
|
NM_001458.5(FLNC):c.3702C>T (p.Pro1234=)
|
rs778503145
|
0.00001
|
|
NM_001458.5(FLNC):c.3730G>A (p.Val1244Met)
|
rs746023653
|
0.00001
|
|
NM_001458.5(FLNC):c.3745G>A (p.Asp1249Asn)
|
rs774968828
|
0.00001
|
|
NM_001458.5(FLNC):c.3773C>G (p.Pro1258Arg)
|
rs1425684282
|
0.00001
|
|
NM_001458.5(FLNC):c.3785C>T (p.Pro1262Leu)
|
rs757144162
|
0.00001
|
|
NM_001458.5(FLNC):c.3790+20C>A
|
rs1234654866
|
0.00001
|
|
NM_001458.5(FLNC):c.3791-19C>T
|
rs763590558
|
0.00001
|
|
NM_001458.5(FLNC):c.3791-1G>C
|
rs781135153
|
0.00001
|
|
NM_001458.5(FLNC):c.3793G>A (p.Val1265Ile)
|
rs368102638
|
0.00001
|
|
NM_001458.5(FLNC):c.3832A>G (p.Arg1278Gly)
|
rs772667448
|
0.00001
|
|
NM_001458.5(FLNC):c.3845C>T (p.Ala1282Val)
|
rs1256859746
|
0.00001
|
|
NM_001458.5(FLNC):c.3867G>A (p.Thr1289=)
|
rs886038485
|
0.00001
|
|
NM_001458.5(FLNC):c.3876G>A (p.Val1292=)
|
rs1192892491
|
0.00001
|
|
NM_001458.5(FLNC):c.3885C>T (p.Pro1295=)
|
rs778413094
|
0.00001
|
|
NM_001458.5(FLNC):c.3890G>A (p.Gly1297Glu)
|
rs771575526
|
0.00001
|
|
NM_001458.5(FLNC):c.3893C>T (p.Ala1298Val)
|
rs1064796931
|
0.00001
|
|
NM_001458.5(FLNC):c.3909T>C (p.Tyr1303=)
|
rs1329973329
|
0.00001
|
|
NM_001458.5(FLNC):c.3928G>A (p.Gly1310Ser)
|
rs767079356
|
0.00001
|
|
NM_001458.5(FLNC):c.3937C>G (p.Arg1313Gly)
|
rs766330686
|
0.00001
|
|
NM_001458.5(FLNC):c.3956A>G (p.Tyr1319Cys)
|
rs1808556919
|
0.00001
|
|
NM_001458.5(FLNC):c.3957C>T (p.Tyr1319=)
|
rs781589024
|
0.00001
|
|
NM_001458.5(FLNC):c.3958G>A (p.Glu1320Lys)
|
rs746217788
|
0.00001
|
|
NM_001458.5(FLNC):c.3965-20C>T
|
rs781712238
|
0.00001
|
|
NM_001458.5(FLNC):c.3987G>A (p.Leu1329=)
|
rs374299121
|
0.00001
|
|
NM_001458.5(FLNC):c.3999C>T (p.Val1333=)
|
rs1341936427
|
0.00001
|
|
NM_001458.5(FLNC):c.4023A>T (p.Arg1341=)
|
rs751884031
|
0.00001
|
|
NM_001458.5(FLNC):c.4030G>A (p.Val1344Met)
|
rs374127804
|
0.00001
|
|
NM_001458.5(FLNC):c.4035C>T (p.Thr1345=)
|
rs538733304
|
0.00001
|
|
NM_001458.5(FLNC):c.4057G>A (p.Val1353Ile)
|
rs1321855034
|
0.00001
|
|
NM_001458.5(FLNC):c.4060C>G (p.Arg1354Gly)
|
rs138193236
|
0.00001
|
|
NM_001458.5(FLNC):c.4066T>G (p.Phe1356Val)
|
rs1276975364
|
0.00001
|
|
NM_001458.5(FLNC):c.4068C>T (p.Phe1356=)
|
rs745413025
|
0.00001
|
|
NM_001458.5(FLNC):c.4069G>A (p.Gly1357Arg)
|
rs1218299104
|
0.00001
|
|
NM_001458.5(FLNC):c.407C>T (p.Thr136Met)
|
rs748919727
|
0.00001
|
|
NM_001458.5(FLNC):c.4109G>A (p.Arg1370Gln)
|
rs761881020
|
0.00001
|
|
NM_001458.5(FLNC):c.4117G>A (p.Val1373Met)
|
rs1159994552
|
0.00001
|
|
NM_001458.5(FLNC):c.4133C>T (p.Ala1378Val)
|
rs748008658
|
0.00001
|
|
NM_001458.5(FLNC):c.4134G>A (p.Ala1378=)
|
rs200942470
|
0.00001
|
|
NM_001458.5(FLNC):c.4141G>A (p.Gly1381Arg)
|
rs766513255
|
0.00001
|
|
NM_001458.5(FLNC):c.4170C>T (p.Pro1390=)
|
rs750156834
|
0.00001
|
|
NM_001458.5(FLNC):c.4172C>T (p.Ser1391Leu)
|
rs755832014
|
0.00001
|
|
NM_001458.5(FLNC):c.4179C>G (p.Ala1393=)
|
rs1304554131
|
0.00001
|
|
NM_001458.5(FLNC):c.4180A>G (p.Lys1394Glu)
|
rs1430761286
|
0.00001
|
|
NM_001458.5(FLNC):c.4219G>A (p.Val1407Met)
|
rs375366821
|
0.00001
|
|
NM_001458.5(FLNC):c.4229T>A (p.Ile1410Asn)
|
rs778951900
|
0.00001
|
|
NM_001458.5(FLNC):c.423C>T (p.Tyr141=)
|
rs761354079
|
0.00001
|
|
NM_001458.5(FLNC):c.4288+3G>A
|
rs1199950013
|
0.00001
|
|
NM_001458.5(FLNC):c.4295C>T (p.Pro1432Leu)
|
rs1427806742
|
0.00001
|
|
NM_001458.5(FLNC):c.4303G>A (p.Val1435Met)
|
rs370643162
|
0.00001
|
|
NM_001458.5(FLNC):c.4310T>C (p.Val1437Ala)
|
rs754170282
|
0.00001
|
|
NM_001458.5(FLNC):c.432C>T (p.Ser144=)
|
rs1285077880
|
0.00001
|
|
NM_001458.5(FLNC):c.4350G>A (p.Gly1450=)
|
rs769921610
|
0.00001
|
|
NM_001458.5(FLNC):c.4372A>G (p.Arg1458Gly)
|
rs762257502
|
0.00001
|
|
NM_001458.5(FLNC):c.4378C>T (p.Arg1460Trp)
|
rs376265227
|
0.00001
|
|
NM_001458.5(FLNC):c.4379G>A (p.Arg1460Gln)
|
rs773716930
|
0.00001
|
|
NM_001458.5(FLNC):c.4380G>T (p.Arg1460=)
|
rs1005510680
|
0.00001
|
|
NM_001458.5(FLNC):c.439A>G (p.Met147Val)
|
rs539316555
|
0.00001
|
|
NM_001458.5(FLNC):c.43G>A (p.Gly15Ser)
|
rs1263243888
|
0.00001
|
|
NM_001458.5(FLNC):c.4421G>A (p.Arg1474Gln)
|
rs376380652
|
0.00001
|
|
NM_001458.5(FLNC):c.4424C>T (p.Ala1475Val)
|
rs369305865
|
0.00001
|
|
NM_001458.5(FLNC):c.4464C>T (p.Ala1488=)
|
rs755909576
|
0.00001
|
|
NM_001458.5(FLNC):c.4465G>A (p.Glu1489Lys)
|
rs766612482
|
0.00001
|
|
NM_001458.5(FLNC):c.4471G>A (p.Val1491Met)
|
rs186904046
|
0.00001
|
|
NM_001458.5(FLNC):c.4474G>A (p.Glu1492Lys)
|
rs71581926
|
0.00001
|
|
NM_001458.5(FLNC):c.4483G>A (p.Asp1495Asn)
|
rs748265400
|
0.00001
|
|
NM_001458.5(FLNC):c.4485C>T (p.Asp1495=)
|
rs373198674
|
0.00001
|
|
NM_001458.5(FLNC):c.4512C>T (p.His1504=)
|
rs370528183
|
0.00001
|
|
NM_001458.5(FLNC):c.4539C>T (p.Tyr1513=)
|
rs759632987
|
0.00001
|
|
NM_001458.5(FLNC):c.4548C>T (p.Ala1516=)
|
rs376441465
|
0.00001
|
|
NM_001458.5(FLNC):c.4549G>A (p.Val1517Ile)
|
rs532654321
|
0.00001
|
|
NM_001458.5(FLNC):c.4552A>C (p.Lys1518Gln)
|
rs778417108
|
0.00001
|
|
NM_001458.5(FLNC):c.4572G>A (p.Val1524=)
|
rs1808638682
|
0.00001
|
|
NM_001458.5(FLNC):c.4576C>T (p.Arg1526Cys)
|
rs746275035
|
0.00001
|
|
NM_001458.5(FLNC):c.4577G>A (p.Arg1526His)
|
rs374729872
|
0.00001
|
|
NM_001458.5(FLNC):c.4579A>G (p.Ser1527Gly)
|
rs747642919
|
0.00001
|
|
NM_001458.5(FLNC):c.4581-12C>T
|
rs781742167
|
0.00001
|
|
NM_001458.5(FLNC):c.4589A>G (p.Lys1530Arg)
|
rs756526090
|
0.00001
|
|
NM_001458.5(FLNC):c.4590G>T (p.Lys1530Asn)
|
rs778534100
|
0.00001
|
|
NM_001458.5(FLNC):c.4597G>A (p.Val1533Ile)
|
rs1554399973
|
0.00001
|
|
NM_001458.5(FLNC):c.4611T>C (p.His1537=)
|
rs376222096
|
0.00001
|
|
NM_001458.5(FLNC):c.4626G>A (p.Val1542=)
|
rs776682674
|
0.00001
|
|
NM_001458.5(FLNC):c.4628G>A (p.Arg1543Gln)
|
rs369178040
|
0.00001
|
|
NM_001458.5(FLNC):c.4644C>A (p.Gly1548=)
|
rs762001332
|
0.00001
|
|
NM_001458.5(FLNC):c.4661T>C (p.Ile1554Thr)
|
rs777526166
|
0.00001
|
|
NM_001458.5(FLNC):c.4678G>C (p.Val1560Leu)
|
rs1351915127
|
0.00001
|
|
NM_001458.5(FLNC):c.4696G>A (p.Ala1566Thr)
|
rs1161262954
|
0.00001
|
|
NM_001458.5(FLNC):c.4702G>A (p.Asp1568Asn)
|
rs1449992399
|
0.00001
|
|
NM_001458.5(FLNC):c.4704C>T (p.Asp1568=)
|
rs749131315
|
0.00001
|
|
NM_001458.5(FLNC):c.470G>A (p.Arg157His)
|
rs752919962
|
0.00001
|
|
NM_001458.5(FLNC):c.4722C>T (p.Leu1574=)
|
rs376933198
|
0.00001
|
|
NM_001458.5(FLNC):c.4728C>T (p.Val1576=)
|
rs1222823077
|
0.00001
|
|
NM_001458.5(FLNC):c.4738-1G>A
|
rs1808678197
|
0.00001
|
|
NM_001458.5(FLNC):c.4741C>A (p.Pro1581Thr)
|
rs972936640
|
0.00001
|
|
NM_001458.5(FLNC):c.4762G>C (p.Ala1588Pro)
|
rs761482137
|
0.00001
|
|
NM_001458.5(FLNC):c.4779T>G (p.Asn1593Lys)
|
rs948081935
|
0.00001
|
|
NM_001458.5(FLNC):c.4790C>T (p.Thr1597Met)
|
rs753742681
|
0.00001
|
|
NM_001458.5(FLNC):c.4795A>G (p.Thr1599Ala)
|
rs2643767
|
0.00001
|
|
NM_001458.5(FLNC):c.4831A>T (p.Thr1611Ser)
|
rs770231264
|
0.00001
|
|
NM_001458.5(FLNC):c.483C>T (p.Pro161=)
|
rs777932071
|
0.00001
|
|
NM_001458.5(FLNC):c.4851C>T (p.Gly1617=)
|
rs1357827460
|
0.00001
|
|
NM_001458.5(FLNC):c.4852G>A (p.Gly1618Ser)
|
rs367824027
|
0.00001
|
|
NM_001458.5(FLNC):c.4878C>T (p.Phe1626=)
|
rs750164635
|
0.00001
|
|
NM_001458.5(FLNC):c.4879C>T (p.Arg1627Cys)
|
rs760407609
|
0.00001
|
|
NM_001458.5(FLNC):c.4888G>A (p.Ala1630Thr)
|
rs1479430297
|
0.00001
|
|
NM_001458.5(FLNC):c.489G>A (p.Gln163=)
|
rs1382736500
|
0.00001
|
|
NM_001458.5(FLNC):c.490C>T (p.Arg164Trp)
|
rs1460797312
|
0.00001
|
|
NM_001458.5(FLNC):c.4920C>T (p.Leu1640=)
|
rs752516424
|
0.00001
|
|
NM_001458.5(FLNC):c.4927+14C>T
|
rs542105844
|
0.00001
|
|
NM_001458.5(FLNC):c.4928-9T>C
|
rs749753725
|
0.00001
|
|
NM_001458.5(FLNC):c.4951+10C>T
|
rs778809639
|
0.00001
|
|
NM_001458.5(FLNC):c.4952G>A (p.Gly1651Asp)
|
rs762493974
|
0.00001
|
|
NM_001458.5(FLNC):c.4977G>C (p.Gln1659His)
|
rs1297786780
|
0.00001
|
|
NM_001458.5(FLNC):c.4979T>C (p.Ile1660Thr)
|
rs750254727
|
0.00001
|
|
NM_001458.5(FLNC):c.4992G>A (p.Thr1664=)
|
rs766665525
|
0.00001
|
|
NM_001458.5(FLNC):c.4995G>A (p.Val1665=)
|
rs368212293
|
0.00001
|
|
NM_001458.5(FLNC):c.5019C>T (p.Ala1673=)
|
rs747436514
|
0.00001
|
|
NM_001458.5(FLNC):c.5031G>A (p.Lys1677=)
|
rs534356967
|
0.00001
|
|
NM_001458.5(FLNC):c.5043G>A (p.Thr1681=)
|
rs200405579
|
0.00001
|
|
NM_001458.5(FLNC):c.5051C>T (p.Thr1684Met)
|
rs1294213097
|
0.00001
|
|
NM_001458.5(FLNC):c.5054C>T (p.Pro1685Leu)
|
rs1385628312
|
0.00001
|
|
NM_001458.5(FLNC):c.5055G>A (p.Pro1685=)
|
rs57797061
|
0.00001
|
|
NM_001458.5(FLNC):c.5097C>T (p.Asp1699=)
|
rs1246194093
|
0.00001
|
|
NM_001458.5(FLNC):c.5098G>A (p.Gly1700Ser)
|
rs1264382469
|
0.00001
|
|
NM_001458.5(FLNC):c.5111T>C (p.Ile1704Thr)
|
rs752850659
|
0.00001
|
|
NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu)
|
rs748879903
|
0.00001
|
|
NM_001458.5(FLNC):c.5133G>A (p.Pro1711=)
|
rs754646406
|
0.00001
|
|
NM_001458.5(FLNC):c.5155C>T (p.Arg1719Cys)
|
rs773260834
|
0.00001
|
|
NM_001458.5(FLNC):c.5157C>T (p.Arg1719=)
|
rs770784518
|
0.00001
|
|
NM_001458.5(FLNC):c.5176C>T (p.Pro1726Ser)
|
rs529240463
|
0.00001
|
|
NM_001458.5(FLNC):c.5181C>A (p.Asn1727Lys)
|
rs764500516
|
0.00001
|
|
NM_001458.5(FLNC):c.5191C>T (p.His1731Tyr)
|
rs1255727604
|
0.00001
|
|
NM_001458.5(FLNC):c.5193C>T (p.His1731=)
|
rs752034193
|
0.00001
|
|
NM_001458.5(FLNC):c.5199+1G>T
|
rs1465588989
|
0.00001
|
|
NM_001458.5(FLNC):c.51G>A (p.Glu17=)
|
rs753490528
|
0.00001
|
|
NM_001458.5(FLNC):c.5200-8C>T
|
rs1478656876
|
0.00001
|
|
NM_001458.5(FLNC):c.5202G>A (p.Ala1734=)
|
rs757233206
|
0.00001
|
|
NM_001458.5(FLNC):c.5212C>T (p.Leu1738=)
|
rs1308173261
|
0.00001
|
|
NM_001458.5(FLNC):c.5224G>A (p.Glu1742Lys)
|
rs774458113
|
0.00001
|
|
NM_001458.5(FLNC):c.5229G>A (p.Glu1743=)
|
rs1245475286
|
0.00001
|
|
NM_001458.5(FLNC):c.5235T>C (p.Ser1745=)
|
rs1245426549
|
0.00001
|
|
NM_001458.5(FLNC):c.5241G>C (p.Val1747=)
|
rs1199231657
|
0.00001
|
|
NM_001458.5(FLNC):c.5242C>T (p.Pro1748Ser)
|
rs1380018208
|
0.00001
|
|
NM_001458.5(FLNC):c.5251C>T (p.Arg1751Cys)
|
rs1585165163
|
0.00001
|
|
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp)
|
rs369187211
|
0.00001
|
|
NM_001458.5(FLNC):c.5275C>T (p.Pro1759Ser)
|
rs892618706
|
0.00001
|
|
NM_001458.5(FLNC):c.5281G>A (p.Ala1761Thr)
|
rs376023896
|
0.00001
|
|
NM_001458.5(FLNC):c.5283C>T (p.Ala1761=)
|
rs1420967776
|
0.00001
|
|
NM_001458.5(FLNC):c.5291C>A (p.Thr1764Lys)
|
rs1585165259
|
0.00001
|
|
NM_001458.5(FLNC):c.5293C>T (p.His1765Tyr)
|
rs1263073740
|
0.00001
|
|
NM_001458.5(FLNC):c.5298+10C>T
|
rs1361883369
|
0.00001
|
|
NM_001458.5(FLNC):c.5298+12C>T
|
rs1441508309
|
0.00001
|
|
NM_001458.5(FLNC):c.5298+16C>T
|
rs1808745487
|
0.00001
|
|
NM_001458.5(FLNC):c.5298+17C>G
|
rs947138277
|
0.00001
|
|
NM_001458.5(FLNC):c.5298+8G>A
|
rs867964395
|
0.00001
|
|
NM_001458.5(FLNC):c.5303C>G (p.Thr1768Arg)
|
rs778860499
|
0.00001
|
|
NM_001458.5(FLNC):c.5320C>T (p.Pro1774Ser)
|
rs370823820
|
0.00001
|
|
NM_001458.5(FLNC):c.5332A>G (p.Met1778Val)
|
rs1347090077
|
0.00001
|
|
NM_001458.5(FLNC):c.5341A>G (p.Met1781Val)
|
rs540112341
|
0.00001
|
|
NM_001458.5(FLNC):c.5352C>T (p.Pro1784=)
|
rs775978179
|
0.00001
|
|
NM_001458.5(FLNC):c.5353T>A (p.Phe1785Ile)
|
rs1035403005
|
0.00001
|
|
NM_001458.5(FLNC):c.5370C>T (p.Pro1790=)
|
rs766344715
|
0.00001
|
|
NM_001458.5(FLNC):c.5395A>C (p.Thr1799Pro)
|
rs1243600050
|
0.00001
|
|
NM_001458.5(FLNC):c.5417C>T (p.Ser1806Leu)
|
rs1224086145
|
0.00001
|
|
NM_001458.5(FLNC):c.5440A>G (p.Ile1814Val)
|
rs1168575419
|
0.00001
|
|
NM_001458.5(FLNC):c.5446G>A (p.Asp1816Asn)
|
rs1198641168
|
0.00001
|
|
NM_001458.5(FLNC):c.5449A>T (p.Asn1817Tyr)
|
rs373146637
|
0.00001
|
|
NM_001458.5(FLNC):c.5451C>G (p.Asn1817Lys)
|
rs762869314
|
0.00001
|
|
NM_001458.5(FLNC):c.5457C>T (p.Asp1819=)
|
rs376660713
|
0.00001
|
|
NM_001458.5(FLNC):c.5458G>A (p.Gly1820Ser)
|
rs763930207
|
0.00001
|
|
NM_001458.5(FLNC):c.5478T>C (p.Tyr1826=)
|
rs371167779
|
0.00001
|
|
NM_001458.5(FLNC):c.5508G>A (p.Met1836Ile)
|
rs1175006964
|
0.00001
|
|
NM_001458.5(FLNC):c.5523C>T (p.Asp1841=)
|
rs748504948
|
0.00001
|
|
NM_001458.5(FLNC):c.5524G>A (p.Gly1842Ser)
|
rs756880490
|
0.00001
|
|
NM_001458.5(FLNC):c.5540-11T>C
|
rs773637016
|
0.00001
|
|
NM_001458.5(FLNC):c.5544C>T (p.Ser1848=)
|
rs1350503435
|
0.00001
|
|
NM_001458.5(FLNC):c.5583T>C (p.His1861=)
|
rs777992233
|
0.00001
|
|
NM_001458.5(FLNC):c.5605C>T (p.Leu1869=)
|
rs916680913
|
0.00001
|
|
NM_001458.5(FLNC):c.5670G>A (p.Gly1890=)
|
rs369881758
|
0.00001
|
|
NM_001458.5(FLNC):c.5676G>A (p.Leu1892=)
|
rs1479099872
|
0.00001
|
|
NM_001458.5(FLNC):c.5685C>T (p.Ala1895=)
|
rs1219372997
|
0.00001
|
|
NM_001458.5(FLNC):c.5686G>A (p.Val1896Met)
|
rs891651799
|
0.00001
|
|
NM_001458.5(FLNC):c.5727C>T (p.Asn1909=)
|
rs771291072
|
0.00001
|
|
NM_001458.5(FLNC):c.5745C>T (p.Thr1915=)
|
rs369449907
|
0.00001
|
|
NM_001458.5(FLNC):c.5758C>A (p.Pro1920Thr)
|
rs751937921
|
0.00001
|
|
NM_001458.5(FLNC):c.5765C>T (p.Ala1922Val)
|
rs377206490
|
0.00001
|
|
NM_001458.5(FLNC):c.5787C>T (p.Ile1929=)
|
rs377063332
|
0.00001
|
|
NM_001458.5(FLNC):c.5788G>A (p.Val1930Met)
|
rs370076553
|
0.00001
|
|
NM_001458.5(FLNC):c.5793C>T (p.Arg1931=)
|
rs374631384
|
0.00001
|
|
NM_001458.5(FLNC):c.5805G>A (p.Lys1935=)
|
rs759262897
|
0.00001
|
|
NM_001458.5(FLNC):c.5814G>A (p.Pro1938=)
|
rs752263141
|
0.00001
|
|
NM_001458.5(FLNC):c.5828C>T (p.Thr1943Ile)
|
rs376413798
|
0.00001
|
|
NM_001458.5(FLNC):c.5842+12G>A
|
rs745604311
|
0.00001
|
|
NM_001458.5(FLNC):c.5842+20A>G
|
rs749524553
|
0.00001
|
|
NM_001458.5(FLNC):c.5842+6G>A
|
rs1010018310
|
0.00001
|
|
NM_001458.5(FLNC):c.5843-7C>T
|
rs749562962
|
0.00001
|
|
NM_001458.5(FLNC):c.5850C>T (p.Asp1950=)
|
rs778996119
|
0.00001
|
|
NM_001458.5(FLNC):c.5872A>T (p.Asn1958Tyr)
|
rs567595947
|
0.00001
|
|
NM_001458.5(FLNC):c.5903A>C (p.Lys1968Thr)
|
rs777028481
|
0.00001
|
|
NM_001458.5(FLNC):c.590A>G (p.Asn197Ser)
|
rs1008787584
|
0.00001
|
|
NM_001458.5(FLNC):c.5913G>A (p.Glu1971=)
|
rs368751662
|
0.00001
|
|
NM_001458.5(FLNC):c.5915G>A (p.Ser1972Asn)
|
rs761342219
|
0.00001
|
|
NM_001458.5(FLNC):c.5922G>T (p.Leu1974=)
|
rs370900824
|
0.00001
|
|
NM_001458.5(FLNC):c.5935G>A (p.Ala1979Thr)
|
rs766127245
|
0.00001
|
|
NM_001458.5(FLNC):c.5955G>A (p.Ser1985=)
|
rs777895128
|
0.00001
|
|
NM_001458.5(FLNC):c.5961C>T (p.Asn1987=)
|
rs747515045
|
0.00001
|
|
NM_001458.5(FLNC):c.5962G>A (p.Glu1988Lys)
|
rs1288953274
|
0.00001
|
|
NM_001458.5(FLNC):c.5996G>A (p.Arg1999Gln)
|
rs1346364708
|
0.00001
|
|
NM_001458.5(FLNC):c.59A>C (p.Glu20Ala)
|
rs1478918808
|
0.00001
|
|
NM_001458.5(FLNC):c.6000C>G (p.His2000Gln)
|
rs1254027067
|
0.00001
|
|
NM_001458.5(FLNC):c.6004+7G>A
|
rs771535289
|
0.00001
|
|
NM_001458.5(FLNC):c.6015C>T (p.Phe2005=)
|
rs771715893
|
0.00001
|
|
NM_001458.5(FLNC):c.602-13A>G
|
rs548449826
|
0.00001
|
|
NM_001458.5(FLNC):c.6022A>G (p.Lys2008Glu)
|
rs772621794
|
0.00001
|
|
NM_001458.5(FLNC):c.6036G>A (p.Glu2012=)
|
rs1392711485
|
0.00001
|
|
NM_001458.5(FLNC):c.6043G>A (p.Val2015Met)
|
rs775231810
|
0.00001
|
|
NM_001458.5(FLNC):c.6049G>A (p.Val2017Met)
|
rs1019545678
|
0.00001
|
|
NM_001458.5(FLNC):c.6063C>G (p.Gly2021=)
|
rs751601686
|
0.00001
|
|
NM_001458.5(FLNC):c.6068A>G (p.His2023Arg)
|
rs1808882683
|
0.00001
|
|
NM_001458.5(FLNC):c.606C>G (p.Leu202=)
|
rs1246016210
|
0.00001
|
|
NM_001458.5(FLNC):c.6094C>G (p.Leu2032Val)
|
rs773543205
|
0.00001
|
|
NM_001458.5(FLNC):c.609C>T (p.Cys203=)
|
rs1455396332
|
0.00001
|
|
NM_001458.5(FLNC):c.6115G>A (p.Gly2039Arg)
|
rs1354394880
|
0.00001
|
|
NM_001458.5(FLNC):c.6123C>T (p.Ala2041=)
|
rs769675272
|
0.00001
|
|
NM_001458.5(FLNC):c.613G>A (p.Asp205Asn)
|
rs767740333
|
0.00001
|
|
NM_001458.5(FLNC):c.6149G>A (p.Gly2050Glu)
|
rs1261109029
|
0.00001
|
|
NM_001458.5(FLNC):c.6189C>T (p.Ile2063=)
|
rs1408617446
|
0.00001
|
|
NM_001458.5(FLNC):c.61A>G (p.Met21Val)
|
rs1174042673
|
0.00001
|
|
NM_001458.5(FLNC):c.6200G>A (p.Arg2067His)
|
rs776520014
|
0.00001
|
|
NM_001458.5(FLNC):c.6208+12C>T
|
rs769734177
|
0.00001
|
|
NM_001458.5(FLNC):c.6208+17dup
|
rs1159094051
|
0.00001
|
|
NM_001458.5(FLNC):c.6208+8C>T
|
rs745328476
|
0.00001
|
|
NM_001458.5(FLNC):c.6209-10T>G
|
rs377551753
|
0.00001
|
|
NM_001458.5(FLNC):c.6233T>C (p.Ile2078Thr)
|
rs780762913
|
0.00001
|
|
NM_001458.5(FLNC):c.6271A>G (p.Met2091Val)
|
rs1438491751
|
0.00001
|
|
NM_001458.5(FLNC):c.6282G>C (p.Gly2094=)
|
rs747894981
|
0.00001
|
|
NM_001458.5(FLNC):c.6302G>A (p.Cys2101Tyr)
|
rs760120511
|
0.00001
|
|
NM_001458.5(FLNC):c.6321C>G (p.Thr2107=)
|
rs1417451523
|
0.00001
|
|
NM_001458.5(FLNC):c.6328A>G (p.Ile2110Val)
|
rs1236042892
|
0.00001
|
|
NM_001458.5(FLNC):c.6355G>A (p.Val2119Met)
|
rs748095197
|
0.00001
|
|
NM_001458.5(FLNC):c.635A>G (p.Asn212Ser)
|
rs756723697
|
0.00001
|
|
NM_001458.5(FLNC):c.6361+9C>G
|
rs747274154
|
0.00001
|
|
NM_001458.5(FLNC):c.6388G>A (p.Gly2130Ser)
|
rs375778608
|
0.00001
|
|
NM_001458.5(FLNC):c.6391G>A (p.Glu2131Lys)
|
rs757511370
|
0.00001
|
|
NM_001458.5(FLNC):c.6398G>A (p.Arg2133His)
|
rs1808925531
|
0.00001
|
|
NM_001458.5(FLNC):c.6441C>T (p.Ile2147=)
|
rs762017885
|
0.00001
|
|
NM_001458.5(FLNC):c.6484+6A>T
|
rs764061858
|
0.00001
|
|
NM_001458.5(FLNC):c.6485-8C>T
|
rs369347947
|
0.00001
|
|
NM_001458.5(FLNC):c.6517C>T (p.Arg2173Cys)
|
rs767250474
|
0.00001
|
|
NM_001458.5(FLNC):c.6523A>C (p.Thr2175Pro)
|
rs1358590777
|
0.00001
|
|
NM_001458.5(FLNC):c.6527G>A (p.Arg2176His)
|
rs1295294313
|
0.00001
|
|
NM_001458.5(FLNC):c.6529A>G (p.Thr2177Ala)
|
rs1285672775
|
0.00001
|
|
NM_001458.5(FLNC):c.652G>A (p.Ala218Thr)
|
rs777415462
|
0.00001
|
|
NM_001458.5(FLNC):c.6530C>A (p.Thr2177Asn)
|
rs756345989
|
0.00001
|
|
NM_001458.5(FLNC):c.6551C>G (p.Thr2184Ser)
|
rs772588219
|
0.00001
|
|
NM_001458.5(FLNC):c.6559C>T (p.Arg2187Cys)
|
rs747336635
|
0.00001
|
|
NM_001458.5(FLNC):c.655C>T (p.Arg219Trp)
|
rs931787034
|
0.00001
|
|
NM_001458.5(FLNC):c.6568C>T (p.Arg2190Cys)
|
rs1474675847
|
0.00001
|
|
NM_001458.5(FLNC):c.6570C>T (p.Arg2190=)
|
rs1184540221
|
0.00001
|
|
NM_001458.5(FLNC):c.6572C>T (p.Thr2191Met)
|
rs768329311
|
0.00001
|
|
NM_001458.5(FLNC):c.6587C>T (p.Thr2196Met)
|
rs560228151
|
0.00001
|
|
NM_001458.5(FLNC):c.6590G>A (p.Arg2197Gln)
|
rs760535041
|
0.00001
|
|
NM_001458.5(FLNC):c.6607C>T (p.Arg2203Cys)
|
rs758838323
|
0.00001
|
|
NM_001458.5(FLNC):c.6608G>A (p.Arg2203His)
|
rs1063262
|
0.00001
|
|
NM_001458.5(FLNC):c.6610G>A (p.Glu2204Lys)
|
rs1476564683
|
0.00001
|
|
NM_001458.5(FLNC):c.6624G>A (p.Glu2208=)
|
rs768307482
|
0.00001
|
|
NM_001458.5(FLNC):c.6640G>A (p.Gly2214Ser)
|
rs1431110219
|
0.00001
|
|
NM_001458.5(FLNC):c.6643G>A (p.Gly2215Arg)
|
rs1310201356
|
0.00001
|
|
NM_001458.5(FLNC):c.6659C>T (p.Ala2220Val)
|
rs370839908
|
0.00001
|
|
NM_001458.5(FLNC):c.6675C>T (p.Phe2225=)
|
rs1247783009
|
0.00001
|
|
NM_001458.5(FLNC):c.6683G>A (p.Arg2228Gln)
|
rs765438770
|
0.00001
|
|
NM_001458.5(FLNC):c.6703G>A (p.Gly2235Ser)
|
rs752159793
|
0.00001
|
|
NM_001458.5(FLNC):c.6724G>A (p.Glu2242Lys)
|
rs1265897548
|
0.00001
|
|
NM_001458.5(FLNC):c.6727+7A>G
|
rs746982412
|
0.00001
|
|
NM_001458.5(FLNC):c.6728G>A (p.Gly2243Asp)
|
rs1311623651
|
0.00001
|
|
NM_001458.5(FLNC):c.6748A>C (p.Met2250Leu)
|
rs923795184
|
0.00001
|
|
NM_001458.5(FLNC):c.6754G>A (p.Ala2252Thr)
|
rs963272191
|
0.00001
|
|
NM_001458.5(FLNC):c.676G>A (p.Asp226Asn)
|
rs745775171
|
0.00001
|
|
NM_001458.5(FLNC):c.6780G>A (p.Lys2260=)
|
rs1808967100
|
0.00001
|
|
NM_001458.5(FLNC):c.6789C>T (p.Ala2263=)
|
rs761059390
|
0.00001
|
|
NM_001458.5(FLNC):c.6798C>T (p.Ile2266=)
|
rs754105222
|
0.00001
|
|
NM_001458.5(FLNC):c.6810G>A (p.Glu2270=)
|
rs745858001
|
0.00001
|
|
NM_001458.5(FLNC):c.6829C>T (p.Arg2277Cys)
|
rs761696270
|
0.00001
|
|
NM_001458.5(FLNC):c.6849G>A (p.Met2283Ile)
|
rs1375490850
|
0.00001
|
|
NM_001458.5(FLNC):c.6853C>A (p.Pro2285Thr)
|
rs1455006748
|
0.00001
|
|
NM_001458.5(FLNC):c.6877C>T (p.Arg2293Cys)
|
rs571239463
|
0.00001
|
|
NM_001458.5(FLNC):c.6878G>A (p.Arg2293His)
|
rs1034483511
|
0.00001
|
|
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met)
|
rs1420394583
|
0.00001
|
|
NM_001458.5(FLNC):c.6891G>A (p.Val2297=)
|
rs1480800568
|
0.00001
|
|
NM_001458.5(FLNC):c.6895G>A (p.Gly2299Ser)
|
rs756870838
|
0.00001
|
|
NM_001458.5(FLNC):c.6924G>A (p.Pro2308=)
|
rs756083833
|
0.00001
|
|
NM_001458.5(FLNC):c.6925C>T (p.Leu2309=)
|
rs1350109880
|
0.00001
|
|
NM_001458.5(FLNC):c.6953G>A (p.Arg2318Gln)
|
rs749235580
|
0.00001
|
|
NM_001458.5(FLNC):c.699+5A>G
|
rs1808129501
|
0.00001
|
|
NM_001458.5(FLNC):c.699+8C>T
|
rs1327027331
|
0.00001
|
|
NM_001458.5(FLNC):c.6997+4A>G
|
rs1227552125
|
0.00001
|
|
NM_001458.5(FLNC):c.6998-10C>T
|
rs1427937152
|
0.00001
|
|
NM_001458.5(FLNC):c.6998-6C>T
|
rs1336346022
|
0.00001
|
|
NM_001458.5(FLNC):c.700-20A>G
|
rs1408797410
|
0.00001
|
|
NM_001458.5(FLNC):c.700-4G>T
|
rs755636271
|
0.00001
|
|
NM_001458.5(FLNC):c.700-5C>T
|
rs745442558
|
0.00001
|
|
NM_001458.5(FLNC):c.7029C>T (p.Gly2343=)
|
rs770236960
|
0.00001
|
|
NM_001458.5(FLNC):c.7030G>A (p.Ala2344Thr)
|
rs529917784
|
0.00001
|
|
NM_001458.5(FLNC):c.7038C>A (p.Gly2346=)
|
rs763377116
|
0.00001
|
|
NM_001458.5(FLNC):c.7047T>C (p.Ile2349=)
|
rs760345428
|
0.00001
|
|
NM_001458.5(FLNC):c.7072G>A (p.Glu2358Lys)
|
rs370769744
|
0.00001
|
|
NM_001458.5(FLNC):c.7094A>G (p.Lys2365Arg)
|
rs751765487
|
0.00001
|
|
NM_001458.5(FLNC):c.7135+6C>T
|
rs774739675
|
0.00001
|
|
NM_001458.5(FLNC):c.7135+7G>A
|
rs760271102
|
0.00001
|
|
NM_001458.5(FLNC):c.7136-4C>T
|
rs938369758
|
0.00001
|
|
NM_001458.5(FLNC):c.7146G>A (p.Glu2382=)
|
rs779162678
|
0.00001
|
|
NM_001458.5(FLNC):c.7149C>T (p.Val2383=)
|
rs970004617
|
0.00001
|
|
NM_001458.5(FLNC):c.714G>A (p.Glu238=)
|
rs1249772444
|
0.00001
|
|
NM_001458.5(FLNC):c.7151C>T (p.Ser2384Phe)
|
rs1219809283
|
0.00001
|
|
NM_001458.5(FLNC):c.7164T>C (p.Asn2388=)
|
rs1000562422
|
0.00001
|
|
NM_001458.5(FLNC):c.7173C>T (p.His2391=)
|
rs1188007382
|
0.00001
|
|
NM_001458.5(FLNC):c.7198C>G (p.Pro2400Ala)
|
rs1390223951
|
0.00001
|
|
NM_001458.5(FLNC):c.7201G>A (p.Val2401Met)
|
rs868744958
|
0.00001
|
|
NM_001458.5(FLNC):c.7222G>A (p.Ala2408Thr)
|
rs376257910
|
0.00001
|
|
NM_001458.5(FLNC):c.7225C>T (p.Arg2409Cys)
|
rs1244377387
|
0.00001
|
|
NM_001458.5(FLNC):c.7226G>A (p.Arg2409His)
|
rs767279710
|
0.00001
|
|
NM_001458.5(FLNC):c.7227C>T (p.Arg2409=)
|
rs1809009738
|
0.00001
|
|
NM_001458.5(FLNC):c.7251+13G>A
|
rs367952484
|
0.00001
|
|
NM_001458.5(FLNC):c.7257G>A (p.Thr2419=)
|
rs201008333
|
0.00001
|
|
NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val)
|
rs1343869103
|
0.00001
|
|
NM_001458.5(FLNC):c.7290C>T (p.Ala2430=)
|
rs373240622
|
0.00001
|
|
NM_001458.5(FLNC):c.7299G>A (p.Leu2433=)
|
rs772998551
|
0.00001
|
|
NM_001458.5(FLNC):c.7302C>T (p.Asn2434=)
|
rs760533029
|
0.00001
|
|
NM_001458.5(FLNC):c.730A>G (p.Asn244Asp)
|
rs1020489966
|
0.00001
|
|
NM_001458.5(FLNC):c.7314C>A (p.Gly2438=)
|
rs765385925
|
0.00001
|
|
NM_001458.5(FLNC):c.7314C>T (p.Gly2438=)
|
rs765385925
|
0.00001
|
|
NM_001458.5(FLNC):c.731A>G (p.Asn244Ser)
|
rs773579752
|
0.00001
|
|
NM_001458.5(FLNC):c.7324G>T (p.Ala2442Ser)
|
rs1160639957
|
0.00001
|
|
NM_001458.5(FLNC):c.7328G>A (p.Arg2443Gln)
|
rs370293647
|
0.00001
|
|
NM_001458.5(FLNC):c.7364A>G (p.Tyr2455Cys)
|
rs769298304
|
0.00001
|
|
NM_001458.5(FLNC):c.7365C>T (p.Tyr2455=)
|
rs540386120
|
0.00001
|
|
NM_001458.5(FLNC):c.7385-5C>T
|
rs367793265
|
0.00001
|
|
NM_001458.5(FLNC):c.7390C>G (p.His2464Asp)
|
rs1269055454
|
0.00001
|
|
NM_001458.5(FLNC):c.7399C>T (p.Arg2467Cys)
|
rs1278916117
|
0.00001
|
|
NM_001458.5(FLNC):c.7413C>T (p.His2471=)
|
rs774524427
|
0.00001
|
|
NM_001458.5(FLNC):c.7422C>T (p.Gly2474=)
|
rs755019331
|
0.00001
|
|
NM_001458.5(FLNC):c.7423G>A (p.Val2475Ile)
|
rs191224002
|
0.00001
|
|
NM_001458.5(FLNC):c.7432A>G (p.Ile2478Val)
|
rs1430261045
|
0.00001
|
|
NM_001458.5(FLNC):c.7439T>C (p.Val2480Ala)
|
rs1376119645
|
0.00001
|
|
NM_001458.5(FLNC):c.7449C>T (p.Asn2483=)
|
rs761006044
|
0.00001
|
|
NM_001458.5(FLNC):c.7485C>T (p.Arg2495=)
|
rs781056503
|
0.00001
|
|
NM_001458.5(FLNC):c.748G>A (p.Val250Ile)
|
rs1562991895
|
0.00001
|
|
NM_001458.5(FLNC):c.7491G>A (p.Gly2497=)
|
rs367843476
|
0.00001
|
|
NM_001458.5(FLNC):c.7494G>A (p.Glu2498=)
|
rs749544147
|
0.00001
|
|
NM_001458.5(FLNC):c.7503G>A (p.Gln2501=)
|
rs1270240455
|
0.00001
|
|
NM_001458.5(FLNC):c.7551A>G (p.Gly2517=)
|
rs1283157933
|
0.00001
|
|
NM_001458.5(FLNC):c.7554C>T (p.Gly2518=)
|
rs761216494
|
0.00001
|
|
NM_001458.5(FLNC):c.7561+7G>T
|
rs1040480789
|
0.00001
|
|
NM_001458.5(FLNC):c.7561G>A (p.Gly2521Ser)
|
rs746969946
|
0.00001
|
|
NM_001458.5(FLNC):c.7562-4C>T
|
rs1809097044
|
0.00001
|
|
NM_001458.5(FLNC):c.7562-6C>T
|
rs1450761866
|
0.00001
|
|
NM_001458.5(FLNC):c.7576T>A (p.Phe2526Ile)
|
rs373973635
|
0.00001
|
|
NM_001458.5(FLNC):c.7580T>C (p.Ile2527Thr)
|
rs749891076
|
0.00001
|
|
NM_001458.5(FLNC):c.7582G>A (p.Val2528Met)
|
rs1317229834
|
0.00001
|
|
NM_001458.5(FLNC):c.7588A>G (p.Thr2530Ala)
|
rs760694025
|
0.00001
|
|
NM_001458.5(FLNC):c.7599C>T (p.Ala2533=)
|
rs1184080931
|
0.00001
|
|
NM_001458.5(FLNC):c.7604C>T (p.Ser2535Leu)
|
rs201895675
|
0.00001
|
|
NM_001458.5(FLNC):c.760C>T (p.Leu254=)
|
rs1808141451
|
0.00001
|
|
NM_001458.5(FLNC):c.7629T>C (p.Asp2543=)
|
rs1451167404
|
0.00001
|
|
NM_001458.5(FLNC):c.7644G>A (p.Val2548=)
|
rs1249860446
|
0.00001
|
|
NM_001458.5(FLNC):c.7647G>T (p.Gln2549His)
|
rs771689118
|
0.00001
|
|
NM_001458.5(FLNC):c.7652A>G (p.Asp2551Gly)
|
rs1040102987
|
0.00001
|
|
NM_001458.5(FLNC):c.7657C>T (p.Arg2553Trp)
|
rs199519281
|
0.00001
|
|
NM_001458.5(FLNC):c.7709A>G (p.Asn2570Ser)
|
rs1381739439
|
0.00001
|
|
NM_001458.5(FLNC):c.7710C>T (p.Asn2570=)
|
rs370733196
|
0.00001
|
|
NM_001458.5(FLNC):c.7722C>T (p.Ala2574=)
|
rs1360192955
|
0.00001
|
|
NM_001458.5(FLNC):c.7732G>A (p.Gly2578Ser)
|
rs566747845
|
0.00001
|
|
NM_001458.5(FLNC):c.7749C>T (p.Ile2583=)
|
rs781217114
|
0.00001
|
|
NM_001458.5(FLNC):c.7780+20A>G
|
rs1287178307
|
0.00001
|
|
NM_001458.5(FLNC):c.7781-16T>G
|
rs1418982837
|
0.00001
|
|
NM_001458.5(FLNC):c.7781-8C>A
|
rs1363938739
|
0.00001
|
|
NM_001458.5(FLNC):c.7794C>T (p.Ser2598=)
|
rs1013763254
|
0.00001
|
|
NM_001458.5(FLNC):c.7797A>G (p.Gly2599=)
|
rs1317108204
|
0.00001
|
|
NM_001458.5(FLNC):c.7807C>T (p.Leu2603Phe)
|
rs746685461
|
0.00001
|
|
NM_001458.5(FLNC):c.7824G>A (p.Thr2608=)
|
rs776281149
|
0.00001
|
|
NM_001458.5(FLNC):c.7830G>C (p.Leu2610=)
|
rs1032374300
|
0.00001
|
|
NM_001458.5(FLNC):c.7834G>A (p.Glu2612Lys)
|
rs1183050599
|
0.00001
|
|
NM_001458.5(FLNC):c.7840G>A (p.Val2614Met)
|
rs745434129
|
0.00001
|
|
NM_001458.5(FLNC):c.7861C>T (p.Arg2621Trp)
|
rs1411832198
|
0.00001
|
|
NM_001458.5(FLNC):c.7903G>A (p.Ala2635Thr)
|
rs1009545372
|
0.00001
|
|
NM_001458.5(FLNC):c.7922G>A (p.Arg2641Gln)
|
rs760857362
|
0.00001
|
|
NM_001458.5(FLNC):c.7933C>T (p.Leu2645=)
|
rs571671091
|
0.00001
|
|
NM_001458.5(FLNC):c.7946T>C (p.Phe2649Ser)
|
rs755387909
|
0.00001
|
|
NM_001458.5(FLNC):c.8013C>T (p.Gly2671=)
|
rs369678123
|
0.00001
|
|
NM_001458.5(FLNC):c.802G>A (p.Val268Ile)
|
rs1210929657
|
0.00001
|
|
NM_001458.5(FLNC):c.8047T>A (p.Tyr2683Asn)
|
rs1377893206
|
0.00001
|
|
NM_001458.5(FLNC):c.806G>A (p.Arg269Gln)
|
rs1585152863
|
0.00001
|
|
NM_001458.5(FLNC):c.8079T>C (p.Asn2693=)
|
rs376051052
|
0.00001
|
|
NM_001458.5(FLNC):c.8080G>A (p.Val2694Ile)
|
rs765388755
|
0.00001
|
|
NM_001458.5(FLNC):c.8089A>G (p.Thr2697Ala)
|
rs1292665355
|
0.00001
|
|
NM_001458.5(FLNC):c.8106G>A (p.Gly2702=)
|
rs1408621523
|
0.00001
|
|
NM_001458.5(FLNC):c.8114T>C (p.Ile2705Thr)
|
rs553714847
|
0.00001
|
|
NM_001458.5(FLNC):c.8136C>T (p.Asp2712=)
|
rs748104907
|
0.00001
|
|
NM_001458.5(FLNC):c.8137G>A (p.Glu2713Lys)
|
rs758271134
|
0.00001
|
|
NM_001458.5(FLNC):c.8170G>T (p.Val2724Phe)
|
rs1220183666
|
0.00001
|
|
NM_001458.5(FLNC):c.824C>T (p.Pro275Leu)
|
rs1249075788
|
0.00001
|
|
NM_001458.5(FLNC):c.837C>T (p.Ile279=)
|
rs754916664
|
0.00001
|
|
NM_001458.5(FLNC):c.842A>G (p.Tyr281Cys)
|
rs1202164075
|
0.00001
|
|
NM_001458.5(FLNC):c.850+20G>A
|
rs776079280
|
0.00001
|
|
NM_001458.5(FLNC):c.851-5C>T
|
rs758216356
|
0.00001
|
|
NM_001458.5(FLNC):c.855C>T (p.Ile285=)
|
rs540753816
|
0.00001
|
|
NM_001458.5(FLNC):c.856G>A (p.Glu286Lys)
|
rs1274480597
|
0.00001
|
|
NM_001458.5(FLNC):c.905C>T (p.Thr302Met)
|
rs776362922
|
0.00001
|
|
NM_001458.5(FLNC):c.906G>A (p.Thr302=)
|
rs758924780
|
0.00001
|
|
NM_001458.5(FLNC):c.918C>T (p.Gly306=)
|
rs200471132
|
0.00001
|
|
NM_001458.5(FLNC):c.943G>A (p.Glu315Lys)
|
rs756104407
|
0.00001
|
|
NM_001458.5(FLNC):c.969+4T>G
|
rs953435954
|
0.00001
|
|
NM_001458.5(FLNC):c.970-3T>C
|
rs1250140261
|
0.00001
|
|
NM_001458.5(FLNC):c.986A>G (p.Asn329Ser)
|
rs536935095
|
0.00001
|
|
NM_001843.4(CNTN1):c.1065A>G (p.Thr355=)
|
rs779267147
|
0.00001
|
|
NM_001843.4(CNTN1):c.1111-7T>C
|
rs747077038
|
0.00001
|
|
NM_001843.4(CNTN1):c.1122G>A (p.Gly374=)
|
rs1457266738
|
0.00001
|
|
NM_001843.4(CNTN1):c.1185C>T (p.Asn395=)
|
rs760250045
|
0.00001
|
|
NM_001843.4(CNTN1):c.1228+4A>G
|
rs1183511907
|
0.00001
|
|
NM_001843.4(CNTN1):c.1229C>T (p.Ala410Val)
|
rs896129454
|
0.00001
|
|
NM_001843.4(CNTN1):c.1285G>T (p.Gly429Cys)
|
rs1465154174
|
0.00001
|
|
NM_001843.4(CNTN1):c.1323A>G (p.Ala441=)
|
rs771836216
|
0.00001
|
|
NM_001843.4(CNTN1):c.1326G>A (p.Pro442=)
|
rs1382743416
|
0.00001
|
|
NM_001843.4(CNTN1):c.1358A>G (p.Glu453Gly)
|
rs1946191168
|
0.00001
|
|
NM_001843.4(CNTN1):c.1508-3T>C
|
rs768212555
|
0.00001
|
|
NM_001843.4(CNTN1):c.1508A>C (p.Asp503Ala)
|
rs199754941
|
0.00001
|
|
NM_001843.4(CNTN1):c.1583C>T (p.Ala528Val)
|
rs779551448
|
0.00001
|
|
NM_001843.4(CNTN1):c.1584G>A (p.Ala528=)
|
rs372359836
|
0.00001
|
|
NM_001843.4(CNTN1):c.168A>C (p.Ser56=)
|
rs1426241282
|
0.00001
|
|
NM_001843.4(CNTN1):c.1712G>A (p.Arg571Gln)
|
rs142561108
|
0.00001
|
|
NM_001843.4(CNTN1):c.1719G>A (p.Ala573=)
|
rs777069796
|
0.00001
|
|
NM_001843.4(CNTN1):c.1723C>T (p.Leu575=)
|
rs1009645260
|
0.00001
|
|
NM_001843.4(CNTN1):c.1800G>A (p.Val600=)
|
rs1326033692
|
0.00001
|
|
NM_001843.4(CNTN1):c.1804+7G>C
|
rs751956205
|
0.00001
|
|
NM_001843.4(CNTN1):c.1813G>A (p.Gly605Ser)
|
rs1172211353
|
0.00001
|
|
NM_001843.4(CNTN1):c.1814G>A (p.Gly605Asp)
|
rs767086250
|
0.00001
|
|
NM_001843.4(CNTN1):c.1864C>T (p.Leu622Phe)
|
rs755364145
|
0.00001
|
|
NM_001843.4(CNTN1):c.1875C>T (p.Ser625=)
|
rs765519666
|
0.00001
|
|
NM_001843.4(CNTN1):c.1876C>T (p.Arg626Cys)
|
rs563858684
|
0.00001
|
|
NM_001843.4(CNTN1):c.1912A>G (p.Thr638Ala)
|
rs778593974
|
0.00001
|
|
NM_001843.4(CNTN1):c.1950A>C (p.Lys650Asn)
|
rs1393458031
|
0.00001
|
|
NM_001843.4(CNTN1):c.2005G>A (p.Val669Met)
|
rs777561409
|
0.00001
|
|
NM_001843.4(CNTN1):c.2039G>A (p.Arg680His)
|
rs770506056
|
0.00001
|
|
NM_001843.4(CNTN1):c.2041G>A (p.Val681Met)
|
rs760051219
|
0.00001
|
|
NM_001843.4(CNTN1):c.2052C>T (p.Thr684=)
|
rs1375608612
|
0.00001
|
|
NM_001843.4(CNTN1):c.2058A>T (p.Thr686=)
|
rs1363409507
|
0.00001
|
|
NM_001843.4(CNTN1):c.2107G>A (p.Gly703Ser)
|
rs370161709
|
0.00001
|
|
NM_001843.4(CNTN1):c.2188T>C (p.Leu730=)
|
rs778218297
|
0.00001
|
|
NM_001843.4(CNTN1):c.218C>T (p.Pro73Leu)
|
rs1033656256
|
0.00001
|
|
NM_001843.4(CNTN1):c.2304C>T (p.Val768=)
|
rs766001371
|
0.00001
|
|
NM_001843.4(CNTN1):c.2326C>T (p.Pro776Ser)
|
rs199833589
|
0.00001
|
|
NM_001843.4(CNTN1):c.2382T>A (p.Pro794=)
|
rs1322651697
|
0.00001
|
|
NM_001843.4(CNTN1):c.2395G>A (p.Ala799Thr)
|
rs1004191780
|
0.00001
|
|
NM_001843.4(CNTN1):c.246G>A (p.Gly82=)
|
rs765121768
|
0.00001
|
|
NM_001843.4(CNTN1):c.2495T>C (p.Val832Ala)
|
rs780316987
|
0.00001
|
|
NM_001843.4(CNTN1):c.249C>T (p.Asp83=)
|
rs377364983
|
0.00001
|
|
NM_001843.4(CNTN1):c.2524-6T>C
|
rs755181630
|
0.00001
|
|
NM_001843.4(CNTN1):c.2527C>T (p.Arg843Trp)
|
rs1168401868
|
0.00001
|
|
NM_001843.4(CNTN1):c.2594C>T (p.Ser865Leu)
|
rs761108267
|
0.00001
|
|
NM_001843.4(CNTN1):c.2626C>G (p.Gln876Glu)
|
rs777846543
|
0.00001
|
|
NM_001843.4(CNTN1):c.265G>A (p.Asp89Asn)
|
rs751205601
|
0.00001
|
|
NM_001843.4(CNTN1):c.268C>A (p.Arg90=)
|
rs756907367
|
0.00001
|
|
NM_001843.4(CNTN1):c.2759G>A (p.Arg920His)
|
rs761797408
|
0.00001
|
|
NM_001843.4(CNTN1):c.2784C>T (p.Val928=)
|
rs758326489
|
0.00001
|
|
NM_001843.4(CNTN1):c.27T>A (p.His9Gln)
|
rs745850349
|
0.00001
|
|
NM_001843.4(CNTN1):c.2805T>A (p.Ser935=)
|
rs780778743
|
0.00001
|
|
NM_001843.4(CNTN1):c.2813C>T (p.Thr938Met)
|
rs141213968
|
0.00001
|
|
NM_001843.4(CNTN1):c.2814G>A (p.Thr938=)
|
rs770255352
|
0.00001
|
|
NM_001843.4(CNTN1):c.2826A>T (p.Val942=)
|
rs371445853
|
0.00001
|
|
NM_001843.4(CNTN1):c.2916C>T (p.Tyr972=)
|
rs868275931
|
0.00001
|
|
NM_001843.4(CNTN1):c.2998C>T (p.Pro1000Ser)
|
rs771084573
|
0.00001
|
|
NM_001843.4(CNTN1):c.3010G>A (p.Gly1004Ser)
|
rs745975456
|
0.00001
|
|
NM_001843.4(CNTN1):c.3047T>C (p.Leu1016Ser)
|
rs766058382
|
0.00001
|
|
NM_001843.4(CNTN1):c.304A>C (p.Asn102His)
|
rs749864561
|
0.00001
|
|
NM_001843.4(CNTN1):c.398G>A (p.Gly133Glu)
|
rs755559017
|
0.00001
|
|
NM_001843.4(CNTN1):c.400+8A>C
|
rs779375688
|
0.00001
|
|
NM_001843.4(CNTN1):c.401-17T>G
|
rs776772859
|
0.00001
|
|
NM_001843.4(CNTN1):c.410C>T (p.Pro137Leu)
|
rs184703177
|
0.00001
|
|
NM_001843.4(CNTN1):c.429T>C (p.Arg143=)
|
rs944116841
|
0.00001
|
|
NM_001843.4(CNTN1):c.42T>C (p.Ser14=)
|
rs201055499
|
0.00001
|
|
NM_001843.4(CNTN1):c.541A>G (p.Ile181Val)
|
rs1481545617
|
0.00001
|
|
NM_001843.4(CNTN1):c.564T>A (p.Phe188Leu)
|
rs775149768
|
0.00001
|
|
NM_001843.4(CNTN1):c.61+16T>C
|
rs1264826564
|
0.00001
|
|
NM_001843.4(CNTN1):c.61+5G>A
|
rs1944916936
|
0.00001
|
|
NM_001843.4(CNTN1):c.626A>T (p.Tyr209Phe)
|
rs1229864034
|
0.00001
|
|
NM_001843.4(CNTN1):c.653T>C (p.Ile218Thr)
|
rs1379159066
|
0.00001
|
|
NM_001843.4(CNTN1):c.703+17T>A
|
rs182672697
|
0.00001
|
|
NM_001843.4(CNTN1):c.726T>A (p.Ala242=)
|
rs1180064251
|
0.00001
|
|
NM_001843.4(CNTN1):c.750T>C (p.Asp250=)
|
rs752740643
|
0.00001
|
|
NM_001843.4(CNTN1):c.773A>G (p.Asn258Ser)
|
rs139270901
|
0.00001
|
|
NM_001843.4(CNTN1):c.804-19T>C
|
rs1396284241
|
0.00001
|
|
NM_001843.4(CNTN1):c.855T>C (p.Thr285=)
|
rs775839275
|
0.00001
|
|
NM_001843.4(CNTN1):c.862A>G (p.Ile288Val)
|
rs1458269504
|
0.00001
|
|
NM_001843.4(CNTN1):c.869C>T (p.Thr290Ile)
|
rs1363438018
|
0.00001
|
|
NM_001843.4(CNTN1):c.901C>G (p.Gln301Glu)
|
rs145955800
|
0.00001
|
|
NM_001843.4(CNTN1):c.985+6T>C
|
rs202118617
|
0.00001
|
|
NM_001848.3(COL6A1):c.1002+6T>C
|
rs13052179
|
0.00001
|
|
NM_001848.3(COL6A1):c.101G>T (p.Cys34Phe)
|
rs756091850
|
0.00001
|
|
NM_001848.3(COL6A1):c.1044G>A (p.Ser348=)
|
rs749001111
|
0.00001
|
|
NM_001848.3(COL6A1):c.1057-14C>T
|
rs572427436
|
0.00001
|
|
NM_001848.3(COL6A1):c.1061T>C (p.Ile354Thr)
|
rs2077773578
|
0.00001
|
|
NM_001848.3(COL6A1):c.108G>T (p.Val36=)
|
rs1259912974
|
0.00001
|
|
NM_001848.3(COL6A1):c.1107G>A (p.Leu369=)
|
rs746451311
|
0.00001
|
|
NM_001848.3(COL6A1):c.1182+12C>T
|
rs374319468
|
0.00001
|
|
NM_001848.3(COL6A1):c.1182+5G>C
|
rs1473206283
|
0.00001
|
|
NM_001848.3(COL6A1):c.1190C>T (p.Pro397Leu)
|
rs746386684
|
0.00001
|
|
NM_001848.3(COL6A1):c.1191G>A (p.Pro397=)
|
rs531640667
|
0.00001
|
|
NM_001848.3(COL6A1):c.1209C>T (p.Pro403=)
|
rs763249073
|
0.00001
|
|
NM_001848.3(COL6A1):c.1226C>T (p.Ala409Val)
|
rs765826390
|
0.00001
|
|
NM_001848.3(COL6A1):c.1236+14C>T
|
rs372483312
|
0.00001
|
|
NM_001848.3(COL6A1):c.1236+3G>A
|
rs968780030
|
0.00001
|
|
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser)
|
rs745485695
|
0.00001
|
|
NM_001848.3(COL6A1):c.1264G>A (p.Gly422Arg)
|
rs774032338
|
0.00001
|
|
NM_001848.3(COL6A1):c.1273-7C>T
|
rs1478209508
|
0.00001
|
|
NM_001848.3(COL6A1):c.1287G>A (p.Glu429=)
|
rs1326051791
|
0.00001
|
|
NM_001848.3(COL6A1):c.1294C>A (p.Pro432Thr)
|
rs1436272876
|
0.00001
|
|
NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp)
|
rs753297152
|
0.00001
|
|
NM_001848.3(COL6A1):c.131C>G (p.Thr44Ser)
|
rs2077714741
|
0.00001
|
|
NM_001848.3(COL6A1):c.1330G>A (p.Asp444Asn)
|
rs778234022
|
0.00001
|
|
NM_001848.3(COL6A1):c.1352A>G (p.Gln451Arg)
|
rs764235653
|
0.00001
|
|
NM_001848.3(COL6A1):c.1375C>T (p.Pro459Ser)
|
rs1235742792
|
0.00001
|
|
NM_001848.3(COL6A1):c.1402G>A (p.Glu468Lys)
|
rs1467389704
|
0.00001
|
|
NM_001848.3(COL6A1):c.1433G>A (p.Arg478Gln)
|
rs776914710
|
0.00001
|
|
NM_001848.3(COL6A1):c.1451C>T (p.Pro484Leu)
|
rs779748438
|
0.00001
|
|
NM_001848.3(COL6A1):c.1462-15C>A
|
rs1369365476
|
0.00001
|
|
NM_001848.3(COL6A1):c.1462-16T>G
|
rs746367774
|
0.00001
|
|
NM_001848.3(COL6A1):c.1462-20C>T
|
rs774637944
|
0.00001
|
|
NM_001848.3(COL6A1):c.1468A>G (p.Arg490Gly)
|
rs2077813854
|
0.00001
|
|
NM_001848.3(COL6A1):c.1488C>T (p.Ala496=)
|
rs776768334
|
0.00001
|
|
NM_001848.3(COL6A1):c.1525-9C>T
|
rs768508076
|
0.00001
|
|
NM_001848.3(COL6A1):c.1575+4A>G
|
rs1306019240
|
0.00001
|
|
NM_001848.3(COL6A1):c.1575+6T>C
|
rs745511169
|
0.00001
|
|
NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys)
|
rs2077819024
|
0.00001
|
|
NM_001848.3(COL6A1):c.1589A>G (p.Asn530Ser)
|
rs771012175
|
0.00001
|
|
NM_001848.3(COL6A1):c.1597G>A (p.Ala533Thr)
|
rs546480880
|
0.00001
|
|
NM_001848.3(COL6A1):c.1611+12C>T
|
rs543297828
|
0.00001
|
|
NM_001848.3(COL6A1):c.162C>T (p.Pro54=)
|
rs775062782
|
0.00001
|
|
NM_001848.3(COL6A1):c.1659G>A (p.Gly553=)
|
rs746962599
|
0.00001
|
|
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg)
|
rs886043521
|
0.00001
|
|
NM_001848.3(COL6A1):c.1675-10T>A
|
rs570045560
|
0.00001
|
|
NM_001848.3(COL6A1):c.1675-19C>T
|
rs372430900
|
0.00001
|
|
NM_001848.3(COL6A1):c.1681G>A (p.Asp561Asn)
|
rs140517685
|
0.00001
|
|
NM_001848.3(COL6A1):c.1710A>C (p.Ala570=)
|
rs763515261
|
0.00001
|
|
NM_001848.3(COL6A1):c.1718A>G (p.Tyr573Cys)
|
rs887316220
|
0.00001
|
|
NM_001848.3(COL6A1):c.1728C>T (p.Pro576=)
|
rs371878987
|
0.00001
|
|
NM_001848.3(COL6A1):c.1732G>A (p.Gly578Ser)
|
rs778884385
|
0.00001
|
|
NM_001848.3(COL6A1):c.1740+3G>C
|
rs1314703448
|
0.00001
|
|
NM_001848.3(COL6A1):c.1741-7C>T
|
rs771621923
|
0.00001
|
|
NM_001848.3(COL6A1):c.1742G>C (p.Gly581Ala)
|
rs1462355816
|
0.00001
|
|
NM_001848.3(COL6A1):c.1772C>T (p.Pro591Leu)
|
rs1020480977
|
0.00001
|
|
NM_001848.3(COL6A1):c.1776+16T>G
|
rs780222583
|
0.00001
|
|
NM_001848.3(COL6A1):c.1777-17C>T
|
rs750950364
|
0.00001
|
|
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=)
|
rs745847824
|
0.00001
|
|
NM_001848.3(COL6A1):c.1790T>G (p.Leu597Trp)
|
rs201365474
|
0.00001
|
|
NM_001848.3(COL6A1):c.1817G>T (p.Cys606Phe)
|
rs368925441
|
0.00001
|
|
NM_001848.3(COL6A1):c.1822+18G>A
|
rs1187486319
|
0.00001
|
|
NM_001848.3(COL6A1):c.1823-15C>T
|
rs747230596
|
0.00001
|
|
NM_001848.3(COL6A1):c.1834G>A (p.Gly612Ser)
|
rs760265069
|
0.00001
|
|
NM_001848.3(COL6A1):c.1837C>A (p.Pro613Thr)
|
rs200770631
|
0.00001
|
|
NM_001848.3(COL6A1):c.1839C>T (p.Pro613=)
|
rs753486364
|
0.00001
|
|
NM_001848.3(COL6A1):c.186C>G (p.Val62=)
|
rs1484725853
|
0.00001
|
|
NM_001848.3(COL6A1):c.1893C>T (p.Phe631=)
|
rs374031718
|
0.00001
|
|
NM_001848.3(COL6A1):c.1898T>C (p.Ile633Thr)
|
rs1237092252
|
0.00001
|
|
NM_001848.3(COL6A1):c.1908C>G (p.Asp636Glu)
|
rs886042572
|
0.00001
|
|
NM_001848.3(COL6A1):c.1912G>A (p.Val638Ile)
|
rs749790625
|
0.00001
|
|
NM_001848.3(COL6A1):c.1956+16G>A
|
rs755009917
|
0.00001
|
|
NM_001848.3(COL6A1):c.1956G>A (p.Lys652=)
|
rs750677675
|
0.00001
|
|
NM_001848.3(COL6A1):c.1957-16G>C
|
rs373143020
|
0.00001
|
|
NM_001848.3(COL6A1):c.1977C>T (p.Tyr659=)
|
rs121912937
|
0.00001
|
|
NM_001848.3(COL6A1):c.1978G>A (p.Ala660Thr)
|
rs781341547
|
0.00001
|
|
NM_001848.3(COL6A1):c.2009T>C (p.Met670Thr)
|
rs776241591
|
0.00001
|
|
NM_001848.3(COL6A1):c.2014G>A (p.Glu672Lys)
|
rs765421411
|
0.00001
|
|
NM_001848.3(COL6A1):c.2021T>G (p.Val674Gly)
|
rs1255698056
|
0.00001
|
|
NM_001848.3(COL6A1):c.2067-18C>T
|
rs201620721
|
0.00001
|
|
NM_001848.3(COL6A1):c.2070C>T (p.Ala690=)
|
rs1421386259
|
0.00001
|
|
NM_001848.3(COL6A1):c.2097C>T (p.Gly699=)
|
rs537366421
|
0.00001
|
|
NM_001848.3(COL6A1):c.2127C>T (p.Tyr709=)
|
rs760039653
|
0.00001
|
|
NM_001848.3(COL6A1):c.2129C>T (p.Thr710Met)
|
rs765641686
|
0.00001
|
|
NM_001848.3(COL6A1):c.2132G>A (p.Arg711Gln)
|
rs766956281
|
0.00001
|
|
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)
|
rs755589190
|
0.00001
|
|
NM_001848.3(COL6A1):c.2188G>A (p.Gly730Arg)
|
rs1297620940
|
0.00001
|
|
NM_001848.3(COL6A1):c.2190G>A (p.Gly730=)
|
rs777828224
|
0.00001
|
|
NM_001848.3(COL6A1):c.2239C>G (p.Pro747Ala)
|
rs765815035
|
0.00001
|
|
NM_001848.3(COL6A1):c.2241C>T (p.Pro747=)
|
rs753778247
|
0.00001
|
|
NM_001848.3(COL6A1):c.2256C>A (p.Val752=)
|
rs749698686
|
0.00001
|
|
NM_001848.3(COL6A1):c.2260G>A (p.Val754Met)
|
rs774657642
|
0.00001
|
|
NM_001848.3(COL6A1):c.2298A>G (p.Ser766=)
|
rs761665024
|
0.00001
|
|
NM_001848.3(COL6A1):c.2338T>C (p.Ser780Pro)
|
rs754399146
|
0.00001
|
|
NM_001848.3(COL6A1):c.2353G>A (p.Gly785Ser)
|
rs370546340
|
0.00001
|
|
NM_001848.3(COL6A1):c.2361G>A (p.Ser787=)
|
rs774817933
|
0.00001
|
|
NM_001848.3(COL6A1):c.2366T>C (p.Val789Ala)
|
rs762499313
|
0.00001
|
|
NM_001848.3(COL6A1):c.2385G>A (p.Glu795=)
|
rs774423958
|
0.00001
|
|
NM_001848.3(COL6A1):c.2411A>G (p.Asn804Ser)
|
rs750677189
|
0.00001
|
|
NM_001848.3(COL6A1):c.2421C>T (p.Ala807=)
|
rs1472258951
|
0.00001
|
|
NM_001848.3(COL6A1):c.2437A>G (p.Lys813Glu)
|
rs936641232
|
0.00001
|
|
NM_001848.3(COL6A1):c.2444G>T (p.Cys815Phe)
|
rs536370523
|
0.00001
|
|
NM_001848.3(COL6A1):c.244C>T (p.Arg82Ter)
|
rs1422385556
|
0.00001
|
|
NM_001848.3(COL6A1):c.2464+18C>T
|
rs754626987
|
0.00001
|
|
NM_001848.3(COL6A1):c.2465-10C>T
|
rs373158112
|
0.00001
|
|
NM_001848.3(COL6A1):c.2465-4G>A
|
rs769559126
|
0.00001
|
|
NM_001848.3(COL6A1):c.2465-9G>A
|
rs757270528
|
0.00001
|
|
NM_001848.3(COL6A1):c.2505C>T (p.Asp835=)
|
rs569497612
|
0.00001
|
|
NM_001848.3(COL6A1):c.2518G>A (p.Val840Met)
|
rs751124572
|
0.00001
|
|
NM_001848.3(COL6A1):c.2565G>A (p.Leu855=)
|
rs1462765947
|
0.00001
|
|
NM_001848.3(COL6A1):c.2583A>T (p.Thr861=)
|
rs151306374
|
0.00001
|
|
NM_001848.3(COL6A1):c.2592G>A (p.Arg864=)
|
rs766279884
|
0.00001
|
|
NM_001848.3(COL6A1):c.2602G>A (p.Ala868Thr)
|
rs574295337
|
0.00001
|
|
NM_001848.3(COL6A1):c.2608G>A (p.Asp870Asn)
|
rs746305862
|
0.00001
|
|
NM_001848.3(COL6A1):c.2626G>A (p.Val876Met)
|
rs573185206
|
0.00001
|
|
NM_001848.3(COL6A1):c.2637C>T (p.Ser879=)
|
rs540554122
|
0.00001
|
|
NM_001848.3(COL6A1):c.2643G>A (p.Thr881=)
|
rs372725624
|
0.00001
|
|
NM_001848.3(COL6A1):c.2670G>A (p.Ser890=)
|
rs527265374
|
0.00001
|
|
NM_001848.3(COL6A1):c.2693C>T (p.Thr898Met)
|
rs752473048
|
0.00001
|
|
NM_001848.3(COL6A1):c.269C>T (p.Ala90Val)
|
rs766517983
|
0.00001
|
|
NM_001848.3(COL6A1):c.2710G>A (p.Val904Ile)
|
rs375831680
|
0.00001
|
|
NM_001848.3(COL6A1):c.273G>A (p.Leu91=)
|
rs759821375
|
0.00001
|
|
NM_001848.3(COL6A1):c.2773C>T (p.Arg925Cys)
|
rs779199061
|
0.00001
|
|
NM_001848.3(COL6A1):c.2784C>T (p.Arg928=)
|
rs775569169
|
0.00001
|
|
NM_001848.3(COL6A1):c.2792C>T (p.Ser931Leu)
|
rs768598525
|
0.00001
|
|
NM_001848.3(COL6A1):c.2841G>A (p.Ser947=)
|
rs768757964
|
0.00001
|
|
NM_001848.3(COL6A1):c.286G>A (p.Glu96Lys)
|
rs759023976
|
0.00001
|
|
NM_001848.3(COL6A1):c.2885C>G (p.Ala962Gly)
|
rs370391371
|
0.00001
|
|
NM_001848.3(COL6A1):c.2891G>A (p.Arg964Gln)
|
rs794727580
|
0.00001
|
|
NM_001848.3(COL6A1):c.2896G>A (p.Gly966Ser)
|
rs1224432118
|
0.00001
|
|
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu)
|
rs1171160953
|
0.00001
|
|
NM_001848.3(COL6A1):c.3056A>G (p.Gln1019Arg)
|
rs751518356
|
0.00001
|
|
NM_001848.3(COL6A1):c.3077C>T (p.Ala1026Val)
|
rs767414809
|
0.00001
|
|
NM_001848.3(COL6A1):c.330C>T (p.Arg110=)
|
rs564528164
|
0.00001
|
|
NM_001848.3(COL6A1):c.335C>T (p.Ala112Val)
|
rs759880017
|
0.00001
|
|
NM_001848.3(COL6A1):c.338T>C (p.Leu113Pro)
|
rs2077725343
|
0.00001
|
|
NM_001848.3(COL6A1):c.366C>T (p.Tyr122=)
|
rs770744511
|
0.00001
|
|
NM_001848.3(COL6A1):c.393C>T (p.Cys131=)
|
rs1020779562
|
0.00001
|
|
NM_001848.3(COL6A1):c.394G>A (p.Ala132Thr)
|
rs1258934082
|
0.00001
|
|
NM_001848.3(COL6A1):c.454T>C (p.Tyr152His)
|
rs1286529045
|
0.00001
|
|
NM_001848.3(COL6A1):c.532G>A (p.Glu178Lys)
|
rs749929221
|
0.00001
|
|
NM_001848.3(COL6A1):c.588+10G>A
|
rs890926408
|
0.00001
|
|
NM_001848.3(COL6A1):c.588+12_588+13insA
|
rs398123637
|
0.00001
|
|
NM_001848.3(COL6A1):c.589-20A>T
|
rs954477080
|
0.00001
|
|
NM_001848.3(COL6A1):c.596G>A (p.Arg199His)
|
rs201213605
|
0.00001
|
|
NM_001848.3(COL6A1):c.5G>A (p.Arg2Lys)
|
rs1305504243
|
0.00001
|
|
NM_001848.3(COL6A1):c.614C>T (p.Thr205Met)
|
rs1343618467
|
0.00001
|
|
NM_001848.3(COL6A1):c.615G>A (p.Thr205=)
|
rs192125814
|
0.00001
|
|
NM_001848.3(COL6A1):c.621C>A (p.His207Gln)
|
rs866987981
|
0.00001
|
|
NM_001848.3(COL6A1):c.641C>T (p.Thr214Met)
|
rs369123247
|
0.00001
|
|
NM_001848.3(COL6A1):c.642G>A (p.Thr214=)
|
rs529325521
|
0.00001
|
|
NM_001848.3(COL6A1):c.650A>T (p.Asp217Val)
|
rs1177728735
|
0.00001
|
|
NM_001848.3(COL6A1):c.664C>T (p.Arg222Cys)
|
rs560001473
|
0.00001
|
|
NM_001848.3(COL6A1):c.670G>A (p.Ala224Thr)
|
rs569642530
|
0.00001
|
|
NM_001848.3(COL6A1):c.680C>T (p.Ala227Val)
|
rs770597799
|
0.00001
|
|
NM_001848.3(COL6A1):c.697G>A (p.Asp233Asn)
|
rs1259945808
|
0.00001
|
|
NM_001848.3(COL6A1):c.739-9C>T
|
rs886057149
|
0.00001
|
|
NM_001848.3(COL6A1):c.776C>T (p.Pro259Leu)
|
rs767905829
|
0.00001
|
|
NM_001848.3(COL6A1):c.784C>T (p.Arg262Trp)
|
rs752259110
|
0.00001
|
|
NM_001848.3(COL6A1):c.813A>G (p.Arg271=)
|
rs748184568
|
0.00001
|
|
NM_001848.3(COL6A1):c.836A>G (p.Glu279Gly)
|
rs1482699064
|
0.00001
|
|
NM_001848.3(COL6A1):c.858+15G>A
|
rs763432919
|
0.00001
|
|
NM_001848.3(COL6A1):c.859-16_859-15insG
|
rs764606641
|
0.00001
|
|
NM_001848.3(COL6A1):c.876C>T (p.Leu292=)
|
rs746362485
|
0.00001
|
|
NM_001848.3(COL6A1):c.880C>G (p.Pro294Ala)
|
rs141572895
|
0.00001
|
|
NM_001848.3(COL6A1):c.903+5G>A
|
rs759468291
|
0.00001
|
|
NM_001848.3(COL6A1):c.903+9C>A
|
rs765060192
|
0.00001
|
|
NM_001848.3(COL6A1):c.904-11T>G
|
rs766924874
|
0.00001
|
|
NM_001848.3(COL6A1):c.904-13G>A
|
rs756720407
|
0.00001
|
|
NM_001848.3(COL6A1):c.920G>A (p.Arg307His)
|
rs145838277
|
0.00001
|
|
NM_001848.3(COL6A1):c.930+14G>A
|
rs766551754
|
0.00001
|
|
NM_001848.3(COL6A1):c.931-6C>A
|
rs778657187
|
0.00001
|
|
NM_001848.3(COL6A1):c.957+7G>A
|
rs764488809
|
0.00001
|
|
NM_001848.3(COL6A1):c.958-18C>T
|
rs774698729
|
0.00001
|
|
NM_001848.3(COL6A1):c.97+19T>C
|
rs559717823
|
0.00001
|
|
NM_001849.4(COL6A2):c.1012C>T (p.Arg338Cys)
|
rs775751831
|
0.00001
|
|
NM_001849.4(COL6A2):c.1021C>T (p.Pro341Ser)
|
rs2078489585
|
0.00001
|
|
NM_001849.4(COL6A2):c.1053+9C>T
|
rs781673478
|
0.00001
|
|
NM_001849.4(COL6A2):c.1054-10C>T
|
rs1456017785
|
0.00001
|
|
NM_001849.4(COL6A2):c.1054-7C>T
|
rs762738666
|
0.00001
|
|
NM_001849.4(COL6A2):c.1058C>T (p.Pro353Leu)
|
rs767744331
|
0.00001
|
|
NM_001849.4(COL6A2):c.1059C>T (p.Pro353=)
|
rs1381119779
|
0.00001
|
|
NM_001849.4(COL6A2):c.1067A>C (p.Tyr356Ser)
|
rs1218992420
|
0.00001
|
|
NM_001849.4(COL6A2):c.1075G>A (p.Glu359Lys)
|
rs1473389233
|
0.00001
|
|
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser)
|
rs768542626
|
0.00001
|
|
NM_001849.4(COL6A2):c.1116G>A (p.Lys372=)
|
rs762160379
|
0.00001
|
|
NM_001849.4(COL6A2):c.1117-3C>T
|
rs772428654
|
0.00001
|
|
NM_001849.4(COL6A2):c.1152G>A (p.Pro384=)
|
rs148423929
|
0.00001
|
|
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg)
|
rs727503883
|
0.00001
|
|
NM_001849.4(COL6A2):c.1180-10C>T
|
rs777782503
|
0.00001
|
|
NM_001849.4(COL6A2):c.1261G>A (p.Gly421Ser)
|
rs1328612494
|
0.00001
|
|
NM_001849.4(COL6A2):c.1263C>T (p.Gly421=)
|
rs778836612
|
0.00001
|
|
NM_001849.4(COL6A2):c.1269+20_1269+21dup
|
rs762054025
|
0.00001
|
|
NM_001849.4(COL6A2):c.1277G>C (p.Arg426Thr)
|
rs760573983
|
0.00001
|
|
NM_001849.4(COL6A2):c.1292C>T (p.Thr431Ile)
|
rs1381049424
|
0.00001
|
|
NM_001849.4(COL6A2):c.12C>T (p.Gly4=)
|
rs568730672
|
0.00001
|
|
NM_001849.4(COL6A2):c.1332+10C>T
|
rs886042745
|
0.00001
|
|
NM_001849.4(COL6A2):c.1332+11G>A
|
rs915604664
|
0.00001
|
|
NM_001849.4(COL6A2):c.1332+11G>C
|
rs915604664
|
0.00001
|
|
NM_001849.4(COL6A2):c.1346C>G (p.Pro449Arg)
|
rs886044030
|
0.00001
|
|
NM_001849.4(COL6A2):c.1356C>T (p.Pro452=)
|
rs886044428
|
0.00001
|
|
NM_001849.4(COL6A2):c.1357C>T (p.Arg453Cys)
|
rs781742477
|
0.00001
|
|
NM_001849.4(COL6A2):c.136C>T (p.His46Tyr)
|
rs144735844
|
0.00001
|
|
NM_001849.4(COL6A2):c.1395+20C>T
|
rs374032380
|
0.00001
|
|
NM_001849.4(COL6A2):c.1395+6G>A
|
rs886042454
|
0.00001
|
|
NM_001849.4(COL6A2):c.1402C>A (p.Arg468=)
|
rs374669775
|
0.00001
|
|
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)
|
rs374669775
|
0.00001
|
|
NM_001849.4(COL6A2):c.1403G>A (p.Arg468Gln)
|
rs746541506
|
0.00001
|
|
NM_001849.4(COL6A2):c.1405G>A (p.Gly469Ser)
|
rs369945453
|
0.00001
|
|
NM_001849.4(COL6A2):c.1427C>A (p.Pro476His)
|
rs200482836
|
0.00001
|
|
NM_001849.4(COL6A2):c.1440T>C (p.Leu480=)
|
rs774677437
|
0.00001
|
|
NM_001849.4(COL6A2):c.1458+3C>T
|
rs794727186
|
0.00001
|
|
NM_001849.4(COL6A2):c.1463C>T (p.Ser488Phe)
|
rs755539822
|
0.00001
|
|
NM_001849.4(COL6A2):c.1476C>T (p.Pro492=)
|
rs772436808
|
0.00001
|
|
NM_001849.4(COL6A2):c.1477G>A (p.Gly493Ser)
|
rs553174831
|
0.00001
|
|
NM_001849.4(COL6A2):c.1498G>C (p.Asp500His)
|
rs770222615
|
0.00001
|
|
NM_001849.4(COL6A2):c.1521+10C>G
|
rs753385303
|
0.00001
|
|
NM_001849.4(COL6A2):c.1521+5G>A
|
rs760353646
|
0.00001
|
|
NM_001849.4(COL6A2):c.1522-12G>A
|
rs770511180
|
0.00001
|
|
NM_001849.4(COL6A2):c.1530C>T (p.Pro510=)
|
rs199842179
|
0.00001
|
|
NM_001849.4(COL6A2):c.1550A>C (p.Tyr517Ser)
|
rs780177226
|
0.00001
|
|
NM_001849.4(COL6A2):c.1554A>G (p.Pro518=)
|
rs779424467
|
0.00001
|
|
NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln)
|
rs367693258
|
0.00001
|
|
NM_001849.4(COL6A2):c.1572C>T (p.Pro524=)
|
rs552356380
|
0.00001
|
|
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser)
|
rs778364096
|
0.00001
|
|
NM_001849.4(COL6A2):c.1596A>G (p.Pro532=)
|
rs1337532842
|
0.00001
|
|
NM_001849.4(COL6A2):c.1600G>A (p.Gly534Ser)
|
rs1307667500
|
0.00001
|
|
NM_001849.4(COL6A2):c.1608+17G>A
|
rs748591526
|
0.00001
|
|
NM_001849.4(COL6A2):c.1609-17T>C
|
rs1188602280
|
0.00001
|
|
NM_001849.4(COL6A2):c.1609-20A>G
|
rs1291554758
|
0.00001
|
|
NM_001849.4(COL6A2):c.1609-7G>A
|
rs555312732
|
0.00001
|
|
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)
|
rs749593004
|
0.00001
|
|
NM_001849.4(COL6A2):c.1620C>T (p.Gly540=)
|
rs774587547
|
0.00001
|
|
NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val)
|
rs376303610
|
0.00001
|
|
NM_001849.4(COL6A2):c.1683T>C (p.Gly561=)
|
rs564536740
|
0.00001
|
|
NM_001849.4(COL6A2):c.1685C>T (p.Pro562Leu)
|
rs370775804
|
0.00001
|
|
NM_001849.4(COL6A2):c.1731C>T (p.Pro577=)
|
rs189470660
|
0.00001
|
|
NM_001849.4(COL6A2):c.1734+14C>T
|
rs886057167
|
0.00001
|
|
NM_001849.4(COL6A2):c.1735-14C>T
|
rs762776002
|
0.00001
|
|
NM_001849.4(COL6A2):c.1744G>A (p.Gly582Ser)
|
rs750533442
|
0.00001
|
|
NM_001849.4(COL6A2):c.1746C>T (p.Gly582=)
|
rs1158803111
|
0.00001
|
|
NM_001849.4(COL6A2):c.1748C>G (p.Pro583Arg)
|
rs917875281
|
0.00001
|
|
NM_001849.4(COL6A2):c.1752T>C (p.Pro584=)
|
rs1422175519
|
0.00001
|
|
NM_001849.4(COL6A2):c.1770+11C>T
|
rs755518889
|
0.00001
|
|
NM_001849.4(COL6A2):c.1770+18C>T
|
rs1040827784
|
0.00001
|
|
NM_001849.4(COL6A2):c.1801A>G (p.Thr601Ala)
|
rs1487977724
|
0.00001
|
|
NM_001849.4(COL6A2):c.1806C>T (p.Cys602=)
|
rs751987553
|
0.00001
|
|
NM_001849.4(COL6A2):c.1811G>A (p.Cys604Tyr)
|
rs1420375071
|
0.00001
|
|
NM_001849.4(COL6A2):c.1815C>T (p.Cys605=)
|
rs778401356
|
0.00001
|
|
NM_001849.4(COL6A2):c.1816+9C>T
|
rs1456625954
|
0.00001
|
|
NM_001849.4(COL6A2):c.1817-7_1817-6insA
|
rs759572010
|
0.00001
|
|
NM_001849.4(COL6A2):c.1846G>A (p.Val616Met)
|
rs746193653
|
0.00001
|
|
NM_001849.4(COL6A2):c.1854C>T (p.Phe618=)
|
rs770024474
|
0.00001
|
|
NM_001849.4(COL6A2):c.1860C>T (p.Ile620=)
|
rs367857478
|
0.00001
|
|
NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys)
|
rs387906607
|
0.00001
|
|
NM_001849.4(COL6A2):c.1877T>C (p.Ile626Thr)
|
rs766374821
|
0.00001
|
|
NM_001849.4(COL6A2):c.1887C>T (p.Thr629=)
|
rs758542107
|
0.00001
|
|
NM_001849.4(COL6A2):c.1912G>A (p.Val638Ile)
|
rs554113319
|
0.00001
|
|
NM_001849.4(COL6A2):c.1921G>A (p.Val641Met)
|
rs1032420539
|
0.00001
|
|
NM_001849.4(COL6A2):c.1925T>C (p.Val642Ala)
|
rs760227367
|
0.00001
|
|
NM_001849.4(COL6A2):c.1970-16C>T
|
rs370331777
|
0.00001
|
|
NM_001849.4(COL6A2):c.1973C>T (p.Thr658Met)
|
rs758788067
|
0.00001
|
|
NM_001849.4(COL6A2):c.1989G>A (p.Val663=)
|
rs944558259
|
0.00001
|
|
NM_001849.4(COL6A2):c.2002G>A (p.Glu668Lys)
|
rs138948335
|
0.00001
|
|
NM_001849.4(COL6A2):c.2019C>T (p.Ala673=)
|
rs771823896
|
0.00001
|
|
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=)
|
rs759646708
|
0.00001
|
|
NM_001849.4(COL6A2):c.2035G>A (p.Glu679Lys)
|
rs763502626
|
0.00001
|
|
NM_001849.4(COL6A2):c.207C>T (p.His69=)
|
rs754275746
|
0.00001
|
|
NM_001849.4(COL6A2):c.2082C>T (p.Leu694=)
|
rs763384399
|
0.00001
|
|
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp)
|
rs2078657536
|
0.00001
|
|
NM_001849.4(COL6A2):c.2118C>T (p.Ala706=)
|
rs759188267
|
0.00001
|
|
NM_001849.4(COL6A2):c.2121C>G (p.Leu707=)
|
rs764727296
|
0.00001
|
|
NM_001849.4(COL6A2):c.2133C>T (p.Tyr711=)
|
rs531816975
|
0.00001
|
|
NM_001849.4(COL6A2):c.2137C>T (p.Arg713Cys)
|
rs139627965
|
0.00001
|
|
NM_001849.4(COL6A2):c.2138G>T (p.Arg713Leu)
|
rs746159648
|
0.00001
|
|
NM_001849.4(COL6A2):c.2154C>T (p.Ser718=)
|
rs1345626063
|
0.00001
|
|
NM_001849.4(COL6A2):c.2166G>A (p.Lys722=)
|
rs930056910
|
0.00001
|
|
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)
|
rs886042922
|
0.00001
|
|
NM_001849.4(COL6A2):c.2201G>A (p.Arg734His)
|
rs749451502
|
0.00001
|
|
NM_001849.4(COL6A2):c.2221G>A (p.Asp741Asn)
|
rs1348937334
|
0.00001
|
|
NM_001849.4(COL6A2):c.2237C>T (p.Ala746Val)
|
rs761863452
|
0.00001
|
|
NM_001849.4(COL6A2):c.224C>T (p.Pro75Leu)
|
rs750009012
|
0.00001
|
|
NM_001849.4(COL6A2):c.2265G>A (p.Thr755=)
|
rs367994212
|
0.00001
|
|
NM_001849.4(COL6A2):c.2272G>A (p.Gly758Ser)
|
rs773338647
|
0.00001
|
|
NM_001849.4(COL6A2):c.2298G>A (p.Lys766=)
|
rs1487961328
|
0.00001
|
|
NM_001849.4(COL6A2):c.2363T>C (p.Leu788Pro)
|
rs982360912
|
0.00001
|
|
NM_001849.4(COL6A2):c.2394C>T (p.Ile798=)
|
rs756575729
|
0.00001
|
|
NM_001849.4(COL6A2):c.2401A>G (p.Met801Val)
|
rs202155540
|
0.00001
|
|
NM_001849.4(COL6A2):c.2402T>G (p.Met801Arg)
|
rs727502834
|
0.00001
|
|
NM_001849.4(COL6A2):c.2412C>T (p.Val804=)
|
rs909940106
|
0.00001
|
|
NM_001849.4(COL6A2):c.2421G>A (p.Pro807=)
|
rs774494973
|
0.00001
|
|
NM_001849.4(COL6A2):c.2423-18C>T
|
rs866625140
|
0.00001
|
|
NM_001849.4(COL6A2):c.2425C>T (p.Pro809Ser)
|
rs1044778936
|
0.00001
|
|
NM_001849.4(COL6A2):c.2433C>T (p.Ile811=)
|
rs776788517
|
0.00001
|
|
NM_001849.4(COL6A2):c.2434G>A (p.Val812Met)
|
rs746393019
|
0.00001
|
|
NM_001849.4(COL6A2):c.2435T>C (p.Val812Ala)
|
rs886044025
|
0.00001
|
|
NM_001849.4(COL6A2):c.2441C>T (p.Pro814Leu)
|
rs775748752
|
0.00001
|
|
NM_001849.4(COL6A2):c.2457A>G (p.Gln819=)
|
rs201518654
|
0.00001
|
|
NM_001849.4(COL6A2):c.2461+11G>A
|
rs200484565
|
0.00001
|
|
NM_001849.4(COL6A2):c.2465T>C (p.Leu822Pro)
|
rs1243558040
|
0.00001
|
|
NM_001849.4(COL6A2):c.2480G>A (p.Cys827Tyr)
|
rs11554667
|
0.00001
|
|
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met)
|
rs755782924
|
0.00001
|
|
NM_001849.4(COL6A2):c.2496G>A (p.Val832=)
|
rs567775494
|
0.00001
|
|
NM_001849.4(COL6A2):c.2508C>A (p.Phe836Leu)
|
rs727502835
|
0.00001
|
|
NM_001849.4(COL6A2):c.250G>A (p.Glu84Lys)
|
rs932129947
|
0.00001
|
|
NM_001849.4(COL6A2):c.2514G>A (p.Leu838=)
|
rs377389081
|
0.00001
|
|
NM_001849.4(COL6A2):c.2560C>T (p.Arg854Cys)
|
rs775590810
|
0.00001
|
|
NM_001849.4(COL6A2):c.2561G>A (p.Arg854His)
|
rs201035005
|
0.00001
|
|
NM_001849.4(COL6A2):c.2581C>T (p.Arg861Trp)
|
rs752291709
|
0.00001
|
|
NM_001849.4(COL6A2):c.2590A>T (p.Thr864Ser)
|
rs780908409
|
0.00001
|
|
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)
|
rs387906610
|
0.00001
|
|
NM_001849.4(COL6A2):c.2614C>T (p.Pro872Ser)
|
rs1228163562
|
0.00001
|
|
NM_001849.4(COL6A2):c.2640G>A (p.Leu880=)
|
rs546825359
|
0.00001
|
|
NM_001849.4(COL6A2):c.2663A>G (p.Gln888Arg)
|
rs750318665
|
0.00001
|
|
NM_001849.4(COL6A2):c.2696C>T (p.Thr899Met)
|
rs771341779
|
0.00001
|
|
NM_001849.4(COL6A2):c.2704C>A (p.His902Asn)
|
rs773974101
|
0.00001
|
|
NM_001849.4(COL6A2):c.2713C>T (p.Leu905=)
|
rs753611948
|
0.00001
|
|
NM_001849.4(COL6A2):c.272C>T (p.Ala91Val)
|
rs201842315
|
0.00001
|
|
NM_001849.4(COL6A2):c.2741T>C (p.Phe914Ser)
|
rs1337272208
|
0.00001
|
|
NM_001849.4(COL6A2):c.2742C>T (p.Phe914=)
|
rs747734639
|
0.00001
|
|
NM_001849.4(COL6A2):c.2760C>T (p.Gly920=)
|
rs751630559
|
0.00001
|
|
NM_001849.4(COL6A2):c.2766G>A (p.Val922=)
|
rs557446829
|
0.00001
|
|
NM_001849.4(COL6A2):c.2781C>T (p.Ala927=)
|
rs776437060
|
0.00001
|
|
NM_001849.4(COL6A2):c.2804G>A (p.Gly935Glu)
|
rs780505425
|
0.00001
|
|
NM_001849.4(COL6A2):c.2809C>T (p.Arg937Trp)
|
rs755352246
|
0.00001
|
|
NM_001849.4(COL6A2):c.2832C>T (p.Phe944=)
|
rs912421199
|
0.00001
|
|
NM_001849.4(COL6A2):c.2851_2852del (p.Val951fs)
|
rs762385362
|
0.00001
|
|
NM_001849.4(COL6A2):c.2853C>A (p.Val951=)
|
rs745419873
|
0.00001
|
|
NM_001849.4(COL6A2):c.2862C>T (p.Asn954=)
|
rs761975390
|
0.00001
|
|
NM_001849.4(COL6A2):c.2879C>T (p.Ser960Leu)
|
rs750097119
|
0.00001
|
|
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys)
|
rs2078408746
|
0.00001
|
|
NM_001849.4(COL6A2):c.2891T>C (p.Met964Thr)
|
rs1427750922
|
0.00001
|
|
NM_001849.4(COL6A2):c.2898G>A (p.Lys966=)
|
rs759502409
|
0.00001
|
|
NM_001849.4(COL6A2):c.2923G>A (p.Ala975Thr)
|
rs777494468
|
0.00001
|
|
NM_001849.4(COL6A2):c.2929G>A (p.Gly977Ser)
|
rs370593484
|
0.00001
|
|
NM_001849.4(COL6A2):c.2946G>A (p.Met982Ile)
|
rs753423696
|
0.00001
|
|
NM_001849.4(COL6A2):c.2948A>T (p.Asp983Val)
|
rs754518986
|
0.00001
|
|
NM_001849.4(COL6A2):c.2988G>A (p.Val996=)
|
rs1221541120
|
0.00001
|
|
NM_001849.4(COL6A2):c.2991C>G (p.Phe997Leu)
|
rs1555877365
|
0.00001
|
|
NM_001849.4(COL6A2):c.3000G>A (p.Lys1000=)
|
rs780794521
|
0.00001
|
|
NM_001849.4(COL6A2):c.3001G>A (p.Asp1001Asn)
|
rs750682710
|
0.00001
|
|
NM_001849.4(COL6A2):c.3026G>T (p.Gly1009Val)
|
rs1157175258
|
0.00001
|
|
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys)
|
rs1051148162
|
0.00001
|
|
NM_001849.4(COL6A2):c.3038G>A (p.Arg1013His)
|
rs751512548
|
0.00001
|
|
NM_001849.4(COL6A2):c.3060_*2dup (p.Ter1020=)
|
rs751470018
|
0.00001
|
|
NM_001849.4(COL6A2):c.315G>A (p.Val105=)
|
rs1467107121
|
0.00001
|
|
NM_001849.4(COL6A2):c.335G>A (p.Gly112Asp)
|
rs776732203
|
0.00001
|
|
NM_001849.4(COL6A2):c.33C>G (p.Leu11=)
|
rs765568801
|
0.00001
|
|
NM_001849.4(COL6A2):c.340G>A (p.Asp114Asn)
|
rs969934621
|
0.00001
|
|
NM_001849.4(COL6A2):c.388C>T (p.Arg130Cys)
|
rs557545831
|
0.00001
|
|
NM_001849.4(COL6A2):c.389G>A (p.Arg130His)
|
rs200387819
|
0.00001
|
|
NM_001849.4(COL6A2):c.390C>T (p.Arg130=)
|
rs544610322
|
0.00001
|
|
NM_001849.4(COL6A2):c.408C>T (p.Cys136=)
|
rs745970130
|
0.00001
|
|
NM_001849.4(COL6A2):c.410C>T (p.Ala137Val)
|
rs886044462
|
0.00001
|
|
NM_001849.4(COL6A2):c.416C>A (p.Ala139Asp)
|
rs749711324
|
0.00001
|
|
NM_001849.4(COL6A2):c.459C>T (p.Thr153=)
|
rs764014106
|
0.00001
|
|
NM_001849.4(COL6A2):c.468C>T (p.Phe156=)
|
rs144117982
|
0.00001
|
|
NM_001849.4(COL6A2):c.469G>A (p.Ala157Thr)
|
rs756242788
|
0.00001
|
|
NM_001849.4(COL6A2):c.479T>C (p.Ile160Thr)
|
rs1454146707
|
0.00001
|
|
NM_001849.4(COL6A2):c.493G>A (p.Val165Ile)
|
rs886044102
|
0.00001
|
|
NM_001849.4(COL6A2):c.498C>T (p.Thr166=)
|
rs762436629
|
0.00001
|
|
NM_001849.4(COL6A2):c.550G>T (p.Gly184Cys)
|
rs766523982
|
0.00001
|
|
NM_001849.4(COL6A2):c.576C>T (p.Pro192=)
|
rs757571306
|
0.00001
|
|
NM_001849.4(COL6A2):c.623C>T (p.Pro208Leu)
|
rs559666084
|
0.00001
|
|
NM_001849.4(COL6A2):c.62A>G (p.Gln21Arg)
|
rs751632108
|
0.00001
|
|
NM_001849.4(COL6A2):c.664G>A (p.Asp222Asn)
|
rs776631856
|
0.00001
|
|
NM_001849.4(COL6A2):c.681C>G (p.Asp227Glu)
|
rs1355259368
|
0.00001
|
|
NM_001849.4(COL6A2):c.694A>G (p.Asn232Asp)
|
rs779287707
|
0.00001
|
|
NM_001849.4(COL6A2):c.697C>T (p.Arg233Cys)
|
rs1379543505
|
0.00001
|
|
NM_001849.4(COL6A2):c.709G>A (p.Val237Ile)
|
rs752359061
|
0.00001
|
|
NM_001849.4(COL6A2):c.714+14G>A
|
rs781213927
|
0.00001
|
|
NM_001849.4(COL6A2):c.715A>G (p.Lys239Glu)
|
rs777108595
|
0.00001
|
|
NM_001849.4(COL6A2):c.726C>T (p.Ala242=)
|
rs767184248
|
0.00001
|
|
NM_001849.4(COL6A2):c.728A>G (p.Tyr243Cys)
|
rs1159588931
|
0.00001
|
|
NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg)
|
rs199806576
|
0.00001
|
|
NM_001849.4(COL6A2):c.805G>A (p.Ala269Thr)
|
rs1354826916
|
0.00001
|
|
NM_001849.4(COL6A2):c.864G>A (p.Pro288=)
|
rs375307603
|
0.00001
|
|
NM_001849.4(COL6A2):c.901-3C>T
|
rs112317259
|
0.00001
|
|
NM_001849.4(COL6A2):c.924G>A (p.Glu308=)
|
rs142674726
|
0.00001
|
|
NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn)
|
rs759838639
|
0.00001
|
|
NM_001849.4(COL6A2):c.946G>A (p.Gly316Ser)
|
rs762882543
|
0.00001
|
|
NM_001849.4(COL6A2):c.951C>T (p.Arg317=)
|
rs369190399
|
0.00001
|
|
NM_001849.4(COL6A2):c.955-10C>T
|
rs751105293
|
0.00001
|
|
NM_001849.4(COL6A2):c.955-17C>T
|
rs372393202
|
0.00001
|
|
NM_001849.4(COL6A2):c.955-6C>T
|
rs781214021
|
0.00001
|
|
NM_001849.4(COL6A2):c.978G>A (p.Lys326=)
|
rs1480541163
|
0.00001
|
|
NM_001849.4(COL6A2):c.987C>T (p.Thr329=)
|
rs748215430
|
0.00001
|
|
NM_001849.4(COL6A2):c.999+7G>A
|
rs199783099
|
0.00001
|
|
NM_001927.4(DES):c.1023+14C>T
|
rs899305731
|
0.00001
|
|
NM_001927.4(DES):c.1023+15A>G
|
rs755376246
|
0.00001
|
|
NM_001927.4(DES):c.1023+6T>G
|
rs1039179103
|
0.00001
|
|
NM_001927.4(DES):c.1023+8C>A
|
rs749582840
|
0.00001
|
|
NM_001927.4(DES):c.1024-9C>T
|
rs201552590
|
0.00001
|
|
NM_001927.4(DES):c.1027G>A (p.Asp343Asn)
|
rs763903197
|
0.00001
|
|
NM_001927.4(DES):c.1038G>A (p.Met346Ile)
|
rs778340812
|
0.00001
|
|
NM_001927.4(DES):c.1047G>A (p.Met349Ile)
|
rs375005961
|
0.00001
|
|
NM_001927.4(DES):c.1050G>A (p.Arg350=)
|
rs769505280
|
0.00001
|
|
NM_001927.4(DES):c.1055T>C (p.Leu352Ser)
|
rs775085773
|
0.00001
|
|
NM_001927.4(DES):c.1079C>T (p.Ala360Val)
|
rs141592925
|
0.00001
|
|
NM_001927.4(DES):c.10G>A (p.Ala4Thr)
|
rs1239304442
|
0.00001
|
|
NM_001927.4(DES):c.1103C>T (p.Ala368Val)
|
rs371830218
|
0.00001
|
|
NM_001927.4(DES):c.1105C>T (p.Arg369Cys)
|
rs1475674849
|
0.00001
|
|
NM_001927.4(DES):c.1142T>C (p.Met381Thr)
|
rs779749720
|
0.00001
|
|
NM_001927.4(DES):c.1147C>T (p.Arg383Cys)
|
rs748945548
|
0.00001
|
|
NM_001927.4(DES):c.1148G>A (p.Arg383His)
|
rs1292042317
|
0.00001
|
|
NM_001927.4(DES):c.1156C>T (p.Arg386Cys)
|
rs369765867
|
0.00001
|
|
NM_001927.4(DES):c.1179C>T (p.Asn393=)
|
rs955390251
|
0.00001
|
|
NM_001927.4(DES):c.1180G>A (p.Val394Met)
|
rs776786349
|
0.00001
|
|
NM_001927.4(DES):c.1189G>T (p.Ala397Ser)
|
rs727502951
|
0.00001
|
|
NM_001927.4(DES):c.1191C>T (p.Ala397=)
|
rs1157219537
|
0.00001
|
|
NM_001927.4(DES):c.1209C>T (p.Ala403=)
|
rs200054661
|
0.00001
|
|
NM_001927.4(DES):c.1217G>A (p.Arg406Gln)
|
rs1057520275
|
0.00001
|
|
NM_001927.4(DES):c.1227G>A (p.Leu409=)
|
rs143954788
|
0.00001
|
|
NM_001927.4(DES):c.1237G>T (p.Glu413Ter)
|
rs61726467
|
0.00001
|
|
NM_001927.4(DES):c.1250A>G (p.Asn417Ser)
|
rs376141178
|
0.00001
|
|
NM_001927.4(DES):c.1258A>C (p.Ile420Leu)
|
rs1427557970
|
0.00001
|
|
NM_001927.4(DES):c.1272T>C (p.Ser424=)
|
rs370720293
|
0.00001
|
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
|
NM_001927.4(DES):c.12C>A (p.Ala4=)
|
rs762566962
|
0.00001
|
|
NM_001927.4(DES):c.1300G>A (p.Glu434Lys)
|
rs952020807
|
0.00001
|
|
NM_001927.4(DES):c.1333A>G (p.Thr445Ala)
|
rs267607498
|
0.00001
|
|
NM_001927.4(DES):c.1335G>A (p.Thr445=)
|
rs780984657
|
0.00001
|
|
NM_001927.4(DES):c.1361G>A (p.Arg454Gln)
|
rs541585670
|
0.00001
|
|
NM_001927.4(DES):c.1404A>C (p.Glu468Asp)
|
rs397516691
|
0.00001
|
|
NM_001927.4(DES):c.1407G>A (p.Val469=)
|
rs1273197280
|
0.00001
|
|
NM_001927.4(DES):c.146T>C (p.Val49Ala)
|
rs794728989
|
0.00001
|
|
NM_001927.4(DES):c.150G>T (p.Thr50=)
|
rs1179760415
|
0.00001
|
|
NM_001927.4(DES):c.155G>C (p.Arg52Pro)
|
rs1372689272
|
0.00001
|
|
NM_001927.4(DES):c.209G>C (p.Arg70Pro)
|
rs933438188
|
0.00001
|
|
NM_001927.4(DES):c.217C>A (p.Arg73=)
|
rs1954367704
|
0.00001
|
|
NM_001927.4(DES):c.218G>A (p.Arg73Gln)
|
rs752518966
|
0.00001
|
|
NM_001927.4(DES):c.225G>A (p.Gly75=)
|
rs777582958
|
0.00001
|
|
NM_001927.4(DES):c.237G>A (p.Thr79=)
|
rs727503899
|
0.00001
|
|
NM_001927.4(DES):c.254_255insT (p.Gly86fs)
|
rs1273708097
|
0.00001
|
|
NM_001927.4(DES):c.261G>A (p.Glu87=)
|
rs770325337
|
0.00001
|
|
NM_001927.4(DES):c.273C>T (p.Phe91=)
|
rs1025329460
|
0.00001
|
|
NM_001927.4(DES):c.280G>A (p.Ala94Thr)
|
rs1163703259
|
0.00001
|
|
NM_001927.4(DES):c.282C>G (p.Ala94=)
|
rs397516693
|
0.00001
|
|
NM_001927.4(DES):c.286G>T (p.Ala96Ser)
|
rs201190593
|
0.00001
|
|
NM_001927.4(DES):c.28C>T (p.Arg10Cys)
|
rs1196125127
|
0.00001
|
|
NM_001927.4(DES):c.291G>A (p.Val97=)
|
rs775205419
|
0.00001
|
|
NM_001927.4(DES):c.298G>A (p.Glu100Lys)
|
rs1434605523
|
0.00001
|
|
NM_001927.4(DES):c.29G>A (p.Arg10His)
|
rs757839952
|
0.00001
|
|
NM_001927.4(DES):c.300G>A (p.Glu100=)
|
rs1339030541
|
0.00001
|
|
NM_001927.4(DES):c.313C>T (p.Arg105Cys)
|
rs794728993
|
0.00001
|
|
NM_001927.4(DES):c.322G>T (p.Glu108Ter)
|
rs62636490
|
0.00001
|
|
NM_001927.4(DES):c.328G>C (p.Val110Leu)
|
rs373081285
|
0.00001
|
|
NM_001927.4(DES):c.348T>C (p.Asn116=)
|
rs766333303
|
0.00001
|
|
NM_001927.4(DES):c.357C>T (p.Phe119=)
|
rs1156903614
|
0.00001
|
|
NM_001927.4(DES):c.369del (p.Ile123fs)
|
rs747289875
|
0.00001
|
|
NM_001927.4(DES):c.371A>G (p.Glu124Gly)
|
rs564121737
|
0.00001
|
|
NM_001927.4(DES):c.402G>A (p.Ala134=)
|
rs369297392
|
0.00001
|
|
NM_001927.4(DES):c.411C>G (p.Ala137=)
|
rs549278754
|
0.00001
|
|
NM_001927.4(DES):c.469G>A (p.Glu157Lys)
|
rs1265299630
|
0.00001
|
|
NM_001927.4(DES):c.488G>C (p.Arg163Pro)
|
rs1457012198
|
0.00001
|
|
NM_001927.4(DES):c.49A>T (p.Thr17Ser)
|
rs1342928312
|
0.00001
|
|
NM_001927.4(DES):c.516G>A (p.Gln172=)
|
rs1014762661
|
0.00001
|
|
NM_001927.4(DES):c.517C>A (p.Arg173Ser)
|
rs752944882
|
0.00001
|
|
NM_001927.4(DES):c.524G>A (p.Arg175His)
|
rs878854472
|
0.00001
|
|
NM_001927.4(DES):c.534C>T (p.Val178=)
|
rs1163205960
|
0.00001
|
|
NM_001927.4(DES):c.545A>C (p.Asn182Thr)
|
rs1358211194
|
0.00001
|
|
NM_001927.4(DES):c.54C>T (p.Phe18=)
|
rs1420981881
|
0.00001
|
|
NM_001927.4(DES):c.552C>T (p.Leu184=)
|
rs1050510822
|
0.00001
|
|
NM_001927.4(DES):c.559C>T (p.Leu187=)
|
rs1314756792
|
0.00001
|
|
NM_001927.4(DES):c.560T>G (p.Leu187Arg)
|
rs1248833348
|
0.00001
|
|
NM_001927.4(DES):c.565C>T (p.Arg189Trp)
|
rs1223277151
|
0.00001
|
|
NM_001927.4(DES):c.58G>A (p.Gly20Arg)
|
rs759306707
|
0.00001
|
|
NM_001927.4(DES):c.593T>C (p.Ile198Thr)
|
rs773271116
|
0.00001
|
|
NM_001927.4(DES):c.598T>C (p.Leu200=)
|
rs1320454372
|
0.00001
|
|
NM_001927.4(DES):c.600del (p.Lys201fs)
|
rs727504448
|
0.00001
|
|
NM_001927.4(DES):c.603G>C (p.Lys201Asn)
|
rs765376573
|
0.00001
|
|
NM_001927.4(DES):c.60G>A (p.Gly20=)
|
rs1058253
|
0.00001
|
|
NM_001927.4(DES):c.615G>C (p.Glu205Asp)
|
rs1295010624
|
0.00001
|
|
NM_001927.4(DES):c.621T>C (p.Asn207=)
|
rs763036386
|
0.00001
|
|
NM_001927.4(DES):c.634C>T (p.Arg212Ter)
|
rs781590560
|
0.00001
|
|
NM_001927.4(DES):c.640-10C>T
|
rs750812904
|
0.00001
|
|
NM_001927.4(DES):c.640-17C>T
|
rs762068048
|
0.00001
|
|
NM_001927.4(DES):c.640-4C>G
|
rs375680081
|
0.00001
|
|
NM_001927.4(DES):c.65C>G (p.Pro22Arg)
|
rs748158450
|
0.00001
|
|
NM_001927.4(DES):c.664C>T (p.Arg222Cys)
|
rs374687448
|
0.00001
|
|
NM_001927.4(DES):c.66G>A (p.Pro22=)
|
rs767502653
|
0.00001
|
|
NM_001927.4(DES):c.673C>T (p.Leu225=)
|
rs774330779
|
0.00001
|
|
NM_001927.4(DES):c.679C>T (p.Arg227Cys)
|
rs767743962
|
0.00001
|
|
NM_001927.4(DES):c.694C>T (p.Leu232Phe)
|
rs764764823
|
0.00001
|
|
NM_001927.4(DES):c.710C>T (p.Ala237Val)
|
rs374144840
|
0.00001
|
|
NM_001927.4(DES):c.714C>T (p.Phe238=)
|
rs780896752
|
0.00001
|
|
NM_001927.4(DES):c.727C>T (p.His243Tyr)
|
rs769647148
|
0.00001
|
|
NM_001927.4(DES):c.746A>C (p.Glu249Ala)
|
rs1256488465
|
0.00001
|
|
NM_001927.4(DES):c.794T>C (p.Met265Thr)
|
rs1457398926
|
0.00001
|
|
NM_001927.4(DES):c.797C>T (p.Ser266Phe)
|
rs1316058461
|
0.00001
|
|
NM_001927.4(DES):c.79G>A (p.Gly27Ser)
|
rs727504877
|
0.00001
|
|
NM_001927.4(DES):c.816C>T (p.Ala272=)
|
rs759823001
|
0.00001
|
|
NM_001927.4(DES):c.817G>A (p.Ala273Thr)
|
rs770258461
|
0.00001
|
|
NM_001927.4(DES):c.822C>T (p.Leu274=)
|
rs763599850
|
0.00001
|
|
NM_001927.4(DES):c.853G>A (p.Ala285Thr)
|
rs876657771
|
0.00001
|
|
NM_001927.4(DES):c.854C>T (p.Ala285Val)
|
rs1368507241
|
0.00001
|
|
NM_001927.4(DES):c.855G>A (p.Ala285=)
|
rs139818514
|
0.00001
|
|
NM_001927.4(DES):c.883T>G (p.Trp295Gly)
|
rs794728986
|
0.00001
|
|
NM_001927.4(DES):c.885G>A (p.Trp295Ter)
|
rs146755676
|
0.00001
|
|
NM_001927.4(DES):c.894G>A (p.Ser298=)
|
rs747073500
|
0.00001
|
|
NM_001927.4(DES):c.897+12C>T
|
rs771116995
|
0.00001
|
|
NM_001927.4(DES):c.897+17G>A
|
rs137945254
|
0.00001
|
|
NM_001927.4(DES):c.897+4G>A
|
rs1329171337
|
0.00001
|
|
NM_001927.4(DES):c.898-5C>T
|
rs371053066
|
0.00001
|
|
NM_001927.4(DES):c.912C>T (p.Thr304=)
|
rs778826152
|
0.00001
|
|
NM_001927.4(DES):c.943C>T (p.Arg315Cys)
|
rs748742357
|
0.00001
|
|
NM_001927.4(DES):c.974G>A (p.Arg325Gln)
|
rs766035912
|
0.00001
|
|
NM_002469.3(MYF6):c.17T>G (p.Phe6Cys)
|
rs1346404270
|
0.00001
|
|
NM_002469.3(MYF6):c.193C>T (p.Pro65Ser)
|
rs1187510400
|
0.00001
|
|
NM_002469.3(MYF6):c.369C>T (p.Asn123=)
|
rs777383223
|
0.00001
|
|
NM_002469.3(MYF6):c.46G>A (p.Asp16Asn)
|
rs749523828
|
0.00001
|
|
NM_002469.3(MYF6):c.520-3C>T
|
rs1035326012
|
0.00001
|
|
NM_002469.3(MYF6):c.649C>T (p.Arg217Ter)
|
rs779208935
|
0.00001
|
|
NM_002469.3(MYF6):c.91T>C (p.Ser31Pro)
|
rs1443837642
|
0.00001
|
|
NM_003283.6(TNNT1):c.107-14C>G
|
rs201268285
|
0.00001
|
|
NM_003283.6(TNNT1):c.107-9C>A
|
rs1357883476
|
0.00001
|
|
NM_003283.6(TNNT1):c.128+5G>A
|
rs769428135
|
0.00001
|
|
NM_003283.6(TNNT1):c.12C>G (p.Thr4=)
|
rs747183274
|
0.00001
|
|
NM_003283.6(TNNT1):c.136G>A (p.Val46Met)
|
rs778199645
|
0.00001
|
|
NM_003283.6(TNNT1):c.144T>A (p.Pro48=)
|
rs141999523
|
0.00001
|
|
NM_003283.6(TNNT1):c.202C>T (p.Arg68Cys)
|
rs1317953556
|
0.00001
|
|
NM_003283.6(TNNT1):c.284A>G (p.Glu95Gly)
|
rs1308212644
|
0.00001
|
|
NM_003283.6(TNNT1):c.308T>C (p.Ile103Thr)
|
rs1050413432
|
0.00001
|
|
NM_003283.6(TNNT1):c.309+18G>A
|
rs1401297428
|
0.00001
|
|
NM_003283.6(TNNT1):c.310-8T>A
|
rs1322654025
|
0.00001
|
|
NM_003283.6(TNNT1):c.310-9G>T
|
rs538375627
|
0.00001
|
|
NM_003283.6(TNNT1):c.33-5C>T
|
rs540523935
|
0.00001
|
|
NM_003283.6(TNNT1):c.366C>T (p.Arg122=)
|
rs375999352
|
0.00001
|
|
NM_003283.6(TNNT1):c.409G>A (p.Glu137Lys)
|
rs1266457771
|
0.00001
|
|
NM_003283.6(TNNT1):c.486C>T (p.Gly162=)
|
rs746601153
|
0.00001
|
|
NM_003283.6(TNNT1):c.502-2A>G
|
rs1156410888
|
0.00001
|
|
NM_003283.6(TNNT1):c.515G>A (p.Arg172His)
|
rs749691780
|
0.00001
|
|
NM_003283.6(TNNT1):c.530C>T (p.Thr177Met)
|
rs781338289
|
0.00001
|
|
NM_003283.6(TNNT1):c.535C>T (p.Arg179Trp)
|
rs757227738
|
0.00001
|
|
NM_003283.6(TNNT1):c.550C>T (p.Arg184Cys)
|
rs12976760
|
0.00001
|
|
NM_003283.6(TNNT1):c.558C>G (p.Leu186=)
|
rs553926696
|
0.00001
|
|
NM_003283.6(TNNT1):c.561C>T (p.Ser187=)
|
rs534454139
|
0.00001
|
|
NM_003283.6(TNNT1):c.565C>T (p.Arg189Cys)
|
rs780429876
|
0.00001
|
|
NM_003283.6(TNNT1):c.592A>G (p.Met198Val)
|
rs757782018
|
0.00001
|
|
NM_003283.6(TNNT1):c.611G>A (p.Arg204Gln)
|
rs765133367
|
0.00001
|
|
NM_003283.6(TNNT1):c.612-14G>A
|
rs370624486
|
0.00001
|
|
NM_003283.6(TNNT1):c.612-4C>T
|
rs201907144
|
0.00001
|
|
NM_003283.6(TNNT1):c.616C>T (p.Arg206Trp)
|
rs748222508
|
0.00001
|
|
NM_003283.6(TNNT1):c.631C>A (p.Pro211Thr)
|
rs766147911
|
0.00001
|
|
NM_003283.6(TNNT1):c.644C>T (p.Pro215Leu)
|
rs1243419099
|
0.00001
|
|
NM_003283.6(TNNT1):c.681G>A (p.Ser227=)
|
rs776884783
|
0.00001
|
|
NM_003283.6(TNNT1):c.71A>G (p.Glu24Gly)
|
rs1391760195
|
0.00001
|
|
NM_003283.6(TNNT1):c.723G>A (p.Met241Ile)
|
rs2085298945
|
0.00001
|
|
NM_003283.6(TNNT1):c.73+10C>G
|
rs1257429782
|
0.00001
|
|
NM_003283.6(TNNT1):c.73+16C>G
|
rs932018159
|
0.00001
|
|
NM_003283.6(TNNT1):c.747T>C (p.Tyr249=)
|
rs191386020
|
0.00001
|
|
NM_003283.6(TNNT1):c.750+16G>A
|
rs755882752
|
0.00001
|
|
NM_003283.6(TNNT1):c.757G>A (p.Val253Met)
|
rs572119503
|
0.00001
|
|
NM_003283.6(TNNT1):c.77C>A (p.Pro26His)
|
rs1049167818
|
0.00001
|
|
NM_003283.6(TNNT1):c.788A>G (p.Lys263Arg)
|
rs377276702
|
0.00001
|
|
NM_003283.6(TNNT1):c.78C>G (p.Pro26=)
|
rs1049123555
|
0.00001
|
|
NM_003283.6(TNNT1):c.804A>G (p.Ala268=)
|
rs1365147328
|
0.00001
|
|
NM_003283.6(TNNT1):c.816C>T (p.Arg272=)
|
rs547140362
|
0.00001
|
|
NM_003283.6(TNNT1):c.817G>A (p.Val273Ile)
|
rs774212109
|
0.00001
|
|
NM_003283.6(TNNT1):c.826C>T (p.Arg276Cys)
|
rs201409131
|
0.00001
|
|
NM_003283.6(TNNT1):c.834G>A (p.Lys278=)
|
rs929705577
|
0.00001
|
|
NM_003319.4(TTN):c.16349dup (p.Phe5451fs)
|
rs752856716
|
0.00001
|
|
NM_004168.4(SDHA):c.1000G>A (p.Ala334Thr)
|
rs1401459296
|
0.00001
|
|
NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe)
|
rs1553999043
|
0.00001
|
|
NM_004168.4(SDHA):c.1017T>C (p.Ser339=)
|
rs752738784
|
0.00001
|
|
NM_004168.4(SDHA):c.101A>G (p.His34Arg)
|
rs757478250
|
0.00001
|
|
NM_004168.4(SDHA):c.1026G>T (p.Val342=)
|
rs1060505004
|
0.00001
|
|
NM_004168.4(SDHA):c.1031C>T (p.Ser344Phe)
|
rs1735563548
|
0.00001
|
|
NM_004168.4(SDHA):c.1033C>T (p.Arg345Trp)
|
rs760598746
|
0.00001
|
|
NM_004168.4(SDHA):c.1041G>A (p.Met347Ile)
|
rs1560994934
|
0.00001
|
|
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)
|
rs746165168
|
0.00001
|
|
NM_004168.4(SDHA):c.1065-16T>C
|
rs765268601
|
0.00001
|
|
NM_004168.4(SDHA):c.1065-17G>A
|
rs1268945057
|
0.00001
|
|
NM_004168.4(SDHA):c.1065-7T>C
|
rs1426933226
|
0.00001
|
|
NM_004168.4(SDHA):c.1075C>T (p.Pro359Ser)
|
rs758817818
|
0.00001
|
|
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys)
|
rs766779919
|
0.00001
|
|
NM_004168.4(SDHA):c.107C>T (p.Thr36Ile)
|
rs1440814662
|
0.00001
|
|
NM_004168.4(SDHA):c.1090G>A (p.Val364Ile)
|
rs372738835
|
0.00001
|
|
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu)
|
rs780941330
|
0.00001
|
|
NM_004168.4(SDHA):c.10G>T (p.Val4Phe)
|
rs778069799
|
0.00001
|
|
NM_004168.4(SDHA):c.1110C>T (p.His370=)
|
rs1579406318
|
0.00001
|
|
NM_004168.4(SDHA):c.1122G>T (p.Glu374Asp)
|
rs377283167
|
0.00001
|
|
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro)
|
rs1433477205
|
0.00001
|
|
NM_004168.4(SDHA):c.1132A>G (p.Thr378Ala)
|
rs1224187912
|
0.00001
|
|
NM_004168.4(SDHA):c.1133C>T (p.Thr378Met)
|
rs777420907
|
0.00001
|
|
NM_004168.4(SDHA):c.1140G>C (p.Leu380=)
|
rs146348714
|
0.00001
|
|
NM_004168.4(SDHA):c.1144G>A (p.Gly382Ser)
|
rs1272640628
|
0.00001
|
|
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala)
|
rs776888362
|
0.00001
|
|
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)
|
rs151170408
|
0.00001
|
|
NM_004168.4(SDHA):c.1155G>A (p.Glu385=)
|
rs765356526
|
0.00001
|
|
NM_004168.4(SDHA):c.1157C>T (p.Thr386Ile)
|
rs773218958
|
0.00001
|
|
NM_004168.4(SDHA):c.1165A>G (p.Ile389Val)
|
rs1316310818
|
0.00001
|
|
NM_004168.4(SDHA):c.1182C>T (p.Asp394=)
|
rs377317558
|
0.00001
|
|
NM_004168.4(SDHA):c.1187C>T (p.Thr396Met)
|
rs757251714
|
0.00001
|
|
NM_004168.4(SDHA):c.1188G>A (p.Thr396=)
|
rs778667374
|
0.00001
|
|
NM_004168.4(SDHA):c.1190A>C (p.Lys397Thr)
|
rs745798689
|
0.00001
|
|
NM_004168.4(SDHA):c.1194G>A (p.Glu398=)
|
rs1735703214
|
0.00001
|
|
NM_004168.4(SDHA):c.1196C>A (p.Pro399Gln)
|
rs878854625
|
0.00001
|
|
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu)
|
rs878854625
|
0.00001
|
|
NM_004168.4(SDHA):c.1197G>A (p.Pro399=)
|
rs771919335
|
0.00001
|
|
NM_004168.4(SDHA):c.1210C>T (p.Pro404Ser)
|
rs769936006
|
0.00001
|
|
NM_004168.4(SDHA):c.121A>C (p.Lys41Gln)
|
rs1061520
|
0.00001
|
|
NM_004168.4(SDHA):c.1220A>G (p.His407Arg)
|
rs374087393
|
0.00001
|
|
NM_004168.4(SDHA):c.1225A>C (p.Asn409His)
|
rs1404377989
|
0.00001
|
|
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser)
|
rs768055345
|
0.00001
|
|
NM_004168.4(SDHA):c.1242C>T (p.Pro414=)
|
rs777306884
|
0.00001
|
|
NM_004168.4(SDHA):c.1250A>G (p.Tyr417Cys)
|
rs528628545
|
0.00001
|
|
NM_004168.4(SDHA):c.125G>A (p.Arg42Lys)
|
rs747557411
|
0.00001
|
|
NM_004168.4(SDHA):c.1260+15T>C
|
rs778457213
|
0.00001
|
|
NM_004168.4(SDHA):c.1260+4A>G
|
rs1060503702
|
0.00001
|
|
NM_004168.4(SDHA):c.1261-5C>A
|
rs751471707
|
0.00001
|
|
NM_004168.4(SDHA):c.1264C>T (p.Leu422=)
|
rs1405485459
|
0.00001
|
|
NM_004168.4(SDHA):c.1276A>C (p.Asn426His)
|
rs1735781689
|
0.00001
|
|
NM_004168.4(SDHA):c.127G>A (p.Ala43Thr)
|
rs1579379865
|
0.00001
|
|
NM_004168.4(SDHA):c.1281C>T (p.Gly427=)
|
rs561918468
|
0.00001
|
|
NM_004168.4(SDHA):c.1298C>T (p.Pro433Leu)
|
rs747488969
|
0.00001
|
|
NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser)
|
rs529198317
|
0.00001
|
|
NM_004168.4(SDHA):c.1306T>C (p.Tyr436His)
|
rs772729820
|
0.00001
|
|
NM_004168.4(SDHA):c.1308C>T (p.Tyr436=)
|
rs762494024
|
0.00001
|
|
NM_004168.4(SDHA):c.1323C>T (p.Ala441=)
|
rs751561561
|
0.00001
|
|
NM_004168.4(SDHA):c.1338del (p.His447fs)
|
rs1735791499
|
0.00001
|
|
NM_004168.4(SDHA):c.1340A>G (p.His447Arg)
|
rs779151375
|
0.00001
|
|
NM_004168.4(SDHA):c.1352G>A (p.Arg451His)
|
rs370690436
|
0.00001
|
|
NM_004168.4(SDHA):c.1358G>A (p.Gly453Glu)
|
rs1169286790
|
0.00001
|
|
NM_004168.4(SDHA):c.1367C>T (p.Ser456Leu)
|
rs76896145
|
0.00001
|
|
NM_004168.4(SDHA):c.1371C>A (p.Leu457=)
|
rs75091805
|
0.00001
|
|
NM_004168.4(SDHA):c.1381G>T (p.Val461Phe)
|
rs373021394
|
0.00001
|
|
NM_004168.4(SDHA):c.1382T>C (p.Val461Ala)
|
rs767452676
|
0.00001
|
|
NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp)
|
rs752461029
|
0.00001
|
|
NM_004168.4(SDHA):c.1398A>G (p.Ala466=)
|
rs878854626
|
0.00001
|
|
NM_004168.4(SDHA):c.1410C>T (p.Ser470=)
|
rs556476038
|
0.00001
|
|
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys)
|
rs143798161
|
0.00001
|
|
NM_004168.4(SDHA):c.1424G>A (p.Cys475Tyr)
|
rs748567636
|
0.00001
|
|
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser)
|
rs770506764
|
0.00001
|
|
NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu)
|
rs146990772
|
0.00001
|
|
NM_004168.4(SDHA):c.1432+16A>G
|
rs753631065
|
0.00001
|
|
NM_004168.4(SDHA):c.1432+18G>C
|
rs763298397
|
0.00001
|
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
|
NM_004168.4(SDHA):c.1445C>A (p.Pro482His)
|
rs759661610
|
0.00001
|
|
NM_004168.4(SDHA):c.1450A>G (p.Ile484Val)
|
rs1224049828
|
0.00001
|
|
NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr)
|
rs1060503706
|
0.00001
|
|
NM_004168.4(SDHA):c.1459A>C (p.Asn487His)
|
rs1208182306
|
0.00001
|
|
NM_004168.4(SDHA):c.1461C>T (p.Asn487=)
|
rs187540602
|
0.00001
|
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
|
NM_004168.4(SDHA):c.1472A>C (p.Glu491Ala)
|
rs754324916
|
0.00001
|
|
NM_004168.4(SDHA):c.1476T>C (p.Ser492=)
|
rs1376968004
|
0.00001
|
|
NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp)
|
rs757663708
|
0.00001
|
|
NM_004168.4(SDHA):c.150+12C>T
|
rs773966272
|
0.00001
|
|
NM_004168.4(SDHA):c.150+18G>C
|
rs759611800
|
0.00001
|
|
NM_004168.4(SDHA):c.150+1G>A
|
rs1057523165
|
0.00001
|
|
NM_004168.4(SDHA):c.151-6T>A
|
rs1352062665
|
0.00001
|
|
NM_004168.4(SDHA):c.151-9C>T
|
rs1734881724
|
0.00001
|
|
NM_004168.4(SDHA):c.1524A>G (p.Thr508=)
|
rs1356814435
|
0.00001
|
|
NM_004168.4(SDHA):c.1546C>G (p.Gln516Glu)
|
rs1251348764
|
0.00001
|
|
NM_004168.4(SDHA):c.1551+4A>G
|
rs928294715
|
0.00001
|
|
NM_004168.4(SDHA):c.1551+7G>C
|
rs760796714
|
0.00001
|
|
NM_004168.4(SDHA):c.1551G>A (p.Lys517=)
|
rs772822136
|
0.00001
|
|
NM_004168.4(SDHA):c.1552-13T>C
|
rs1280763236
|
0.00001
|
|
NM_004168.4(SDHA):c.1552-14A>G
|
rs762315793
|
0.00001
|
|
NM_004168.4(SDHA):c.1552-16A>G
|
rs1418838846
|
0.00001
|
|
NM_004168.4(SDHA):c.1552-3C>T
|
rs1222778933
|
0.00001
|
|
NM_004168.4(SDHA):c.1552-7G>A
|
rs1351792129
|
0.00001
|
|
NM_004168.4(SDHA):c.1575G>A (p.Val525=)
|
rs766757653
|
0.00001
|
|
NM_004168.4(SDHA):c.1579C>T (p.Arg527Cys)
|
rs138723511
|
0.00001
|
|
NM_004168.4(SDHA):c.1590C>T (p.Ser530=)
|
rs1060503701
|
0.00001
|
|
NM_004168.4(SDHA):c.1596G>A (p.Leu532=)
|
rs1449742263
|
0.00001
|
|
NM_004168.4(SDHA):c.15G>A (p.Arg5=)
|
rs1260744894
|
0.00001
|
|
NM_004168.4(SDHA):c.1605T>C (p.Gly535=)
|
rs1219265731
|
0.00001
|
|
NM_004168.4(SDHA):c.1611G>A (p.Gly537=)
|
rs1060505009
|
0.00001
|
|
NM_004168.4(SDHA):c.1627T>C (p.Tyr543His)
|
rs1339009840
|
0.00001
|
|
NM_004168.4(SDHA):c.1628A>G (p.Tyr543Cys)
|
rs778670859
|
0.00001
|
|
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter)
|
rs747249998
|
0.00001
|
|
NM_004168.4(SDHA):c.162G>A (p.Gln54=)
|
rs1468436658
|
0.00001
|
|
NM_004168.4(SDHA):c.1630G>A (p.Gly544Arg)
|
rs1338347881
|
0.00001
|
|
NM_004168.4(SDHA):c.1641G>C (p.Lys547Asn)
|
rs1267429398
|
0.00001
|
|
NM_004168.4(SDHA):c.1644C>T (p.His548=)
|
rs1126427
|
0.00001
|
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
|
NM_004168.4(SDHA):c.1663+19C>T
|
rs1214851392
|
0.00001
|
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
0.00001
|
|
NM_004168.4(SDHA):c.1663+20T>C
|
rs1226482893
|
0.00001
|
|
NM_004168.4(SDHA):c.1664-13T>C
|
rs1057524514
|
0.00001
|
|
NM_004168.4(SDHA):c.1687G>A (p.Val563Met)
|
rs1736814459
|
0.00001
|
|
NM_004168.4(SDHA):c.1695C>G (p.Thr565=)
|
rs765113103
|
0.00001
|
|
NM_004168.4(SDHA):c.1696C>G (p.Leu566Val)
|
rs142936520
|
0.00001
|
|
NM_004168.4(SDHA):c.1707G>A (p.Gln569=)
|
rs959934068
|
0.00001
|
|
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val)
|
rs1445945083
|
0.00001
|
|
NM_004168.4(SDHA):c.1734C>G (p.Thr578=)
|
rs748328205
|
0.00001
|
|
NM_004168.4(SDHA):c.1739A>G (p.Tyr580Cys)
|
rs372707443
|
0.00001
|
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
|
NM_004168.4(SDHA):c.1772C>T (p.Ala591Val)
|
rs367621815
|
0.00001
|
|
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys)
|
rs1302547655
|
0.00001
|
|
NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly)
|
rs1126557
|
0.00001
|
|
NM_004168.4(SDHA):c.1794+17C>T
|
rs747352875
|
0.00001
|
|
NM_004168.4(SDHA):c.1794+18G>A
|
rs768882490
|
0.00001
|
|
NM_004168.4(SDHA):c.1794+19C>A
|
rs776409305
|
0.00001
|
|
NM_004168.4(SDHA):c.1794+8T>A
|
rs1050394308
|
0.00001
|
|
NM_004168.4(SDHA):c.1795-3C>G
|
rs544544409
|
0.00001
|
|
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp)
|
rs878854630
|
0.00001
|
|
NM_004168.4(SDHA):c.1813G>A (p.Asp605Asn)
|
rs771593214
|
0.00001
|
|
NM_004168.4(SDHA):c.1818C>T (p.Tyr606=)
|
rs1226342299
|
0.00001
|
|
NM_004168.4(SDHA):c.1819T>C (p.Ser607Pro)
|
rs1183122120
|
0.00001
|
|
NM_004168.4(SDHA):c.1827C>A (p.Pro609=)
|
rs1060505006
|
0.00001
|
|
NM_004168.4(SDHA):c.1860G>A (p.Glu620=)
|
rs1447230295
|
0.00001
|
|
NM_004168.4(SDHA):c.1879C>T (p.Leu627=)
|
rs1169965410
|
0.00001
|
|
NM_004168.4(SDHA):c.1881G>C (p.Leu627=)
|
rs1390181757
|
0.00001
|
|
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs)
|
rs750865703
|
0.00001
|
|
NM_004168.4(SDHA):c.1889T>C (p.Val630Ala)
|
rs1392791825
|
0.00001
|
|
NM_004168.4(SDHA):c.1890G>C (p.Val630=)
|
rs1405784467
|
0.00001
|
|
NM_004168.4(SDHA):c.1893C>T (p.Asp631=)
|
rs1364764796
|
0.00001
|
|
NM_004168.4(SDHA):c.1908+5G>C
|
rs759574062
|
0.00001
|
|
NM_004168.4(SDHA):c.1908+6T>C
|
rs1359050908
|
0.00001
|
|
NM_004168.4(SDHA):c.1909-18C>T
|
rs781153748
|
0.00001
|
|
NM_004168.4(SDHA):c.1909-2A>G
|
rs747939816
|
0.00001
|
|
NM_004168.4(SDHA):c.1913C>T (p.Thr638Ile)
|
rs370133236
|
0.00001
|
|
NM_004168.4(SDHA):c.1915C>G (p.Leu639Val)
|
rs1126697
|
0.00001
|
|
NM_004168.4(SDHA):c.1923T>C (p.Tyr641=)
|
rs1444319863
|
0.00001
|
|
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg)
|
rs1060503717
|
0.00001
|
|
NM_004168.4(SDHA):c.1943C>G (p.Thr648Ser)
|
rs1420345359
|
0.00001
|
|
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser)
|
rs1485747007
|
0.00001
|
|
NM_004168.4(SDHA):c.1960T>G (p.Cys654Gly)
|
rs60587941
|
0.00001
|
|
NM_004168.4(SDHA):c.1968C>T (p.Thr656=)
|
rs3211499
|
0.00001
|
|
NM_004168.4(SDHA):c.1971C>T (p.Val657=)
|
rs746083858
|
0.00001
|
|
NM_004168.4(SDHA):c.1974G>A (p.Pro658=)
|
rs1042446
|
0.00001
|
|
NM_004168.4(SDHA):c.1978G>A (p.Ala660Thr)
|
rs1554002911
|
0.00001
|
|
NM_004168.4(SDHA):c.198G>A (p.Val66=)
|
rs1429525714
|
0.00001
|
|
NM_004168.4(SDHA):c.19C>T (p.Leu7=)
|
rs760964443
|
0.00001
|
|
NM_004168.4(SDHA):c.219C>G (p.Gly73=)
|
rs776288745
|
0.00001
|
|
NM_004168.4(SDHA):c.224G>A (p.Arg75Gln)
|
rs751645963
|
0.00001
|
|
NM_004168.4(SDHA):c.228T>G (p.Ala76=)
|
rs1416043203
|
0.00001
|
|
NM_004168.4(SDHA):c.237C>T (p.Gly79=)
|
rs767927763
|
0.00001
|
|
NM_004168.4(SDHA):c.23C>G (p.Ser8Trp)
|
rs878854631
|
0.00001
|
|
NM_004168.4(SDHA):c.252G>T (p.Gly84=)
|
rs753293451
|
0.00001
|
|
NM_004168.4(SDHA):c.25C>T (p.Arg9Trp)
|
rs776218604
|
0.00001
|
|
NM_004168.4(SDHA):c.260C>T (p.Thr87Ile)
|
rs756543943
|
0.00001
|
|
NM_004168.4(SDHA):c.312+16C>T
|
rs771169259
|
0.00001
|
|
NM_004168.4(SDHA):c.312+5G>A
|
rs1384659459
|
0.00001
|
|
NM_004168.4(SDHA):c.313-5T>G
|
rs1060503705
|
0.00001
|
|
NM_004168.4(SDHA):c.313-8G>A
|
rs1060503710
|
0.00001
|
|
NM_004168.4(SDHA):c.323A>G (p.Asn108Ser)
|
rs758086385
|
0.00001
|
|
NM_004168.4(SDHA):c.328G>C (p.Ala110Pro)
|
rs786205209
|
0.00001
|
|
NM_004168.4(SDHA):c.340A>G (p.Met114Val)
|
rs933414586
|
0.00001
|
|
NM_004168.4(SDHA):c.360G>A (p.Arg120=)
|
rs1247649190
|
0.00001
|
|
NM_004168.4(SDHA):c.371A>G (p.Tyr124Cys)
|
rs935241830
|
0.00001
|
|
NM_004168.4(SDHA):c.373G>A (p.Asp125Asn)
|
rs780654623
|
0.00001
|
|
NM_004168.4(SDHA):c.378C>T (p.Thr126=)
|
rs756039268
|
0.00001
|
|
NM_004168.4(SDHA):c.379G>A (p.Val127Met)
|
rs777600956
|
0.00001
|
|
NM_004168.4(SDHA):c.390C>T (p.Ser130=)
|
rs748976493
|
0.00001
|
|
NM_004168.4(SDHA):c.420C>G (p.His140Gln)
|
rs747232441
|
0.00001
|
|
NM_004168.4(SDHA):c.422A>G (p.Tyr141Cys)
|
rs1377816261
|
0.00001
|
|
NM_004168.4(SDHA):c.423C>T (p.Tyr141=)
|
rs768897373
|
0.00001
|
|
NM_004168.4(SDHA):c.429G>A (p.Thr143=)
|
rs906281170
|
0.00001
|
|
NM_004168.4(SDHA):c.433C>G (p.Gln145Glu)
|
rs765784494
|
0.00001
|
|
NM_004168.4(SDHA):c.439C>T (p.Pro147Ser)
|
rs1734963793
|
0.00001
|
|
NM_004168.4(SDHA):c.451G>A (p.Val151Ile)
|
rs143148642
|
0.00001
|
|
NM_004168.4(SDHA):c.456+10G>A
|
rs781436294
|
0.00001
|
|
NM_004168.4(SDHA):c.456+16C>T
|
rs748175384
|
0.00001
|
|
NM_004168.4(SDHA):c.456+18C>G
|
rs770457461
|
0.00001
|
|
NM_004168.4(SDHA):c.457-11A>G
|
rs748265289
|
0.00001
|
|
NM_004168.4(SDHA):c.457-16T>C
|
rs371775474
|
0.00001
|
|
NM_004168.4(SDHA):c.461A>G (p.Glu154Gly)
|
rs777873911
|
0.00001
|
|
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp)
|
rs569384870
|
0.00001
|
|
NM_004168.4(SDHA):c.471C>T (p.Gly157=)
|
rs1553997722
|
0.00001
|
|
NM_004168.4(SDHA):c.477G>A (p.Pro159=)
|
rs771741537
|
0.00001
|
|
NM_004168.4(SDHA):c.478T>C (p.Phe160Leu)
|
rs775074528
|
0.00001
|
|
NM_004168.4(SDHA):c.488C>T (p.Thr163Ile)
|
rs375067326
|
0.00001
|
|
NM_004168.4(SDHA):c.493G>A (p.Asp165Asn)
|
rs1734989215
|
0.00001
|
|
NM_004168.4(SDHA):c.499A>C (p.Lys167Gln)
|
rs763578369
|
0.00001
|
|
NM_004168.4(SDHA):c.511C>T (p.Arg171Cys)
|
rs776193478
|
0.00001
|
|
NM_004168.4(SDHA):c.516A>G (p.Ala172=)
|
rs181278759
|
0.00001
|
|
NM_004168.4(SDHA):c.530G>C (p.Ser177Thr)
|
rs1553997783
|
0.00001
|
|
NM_004168.4(SDHA):c.534C>T (p.Leu178=)
|
rs749329370
|
0.00001
|
|
NM_004168.4(SDHA):c.541G>C (p.Gly181Arg)
|
rs1305547879
|
0.00001
|
|
NM_004168.4(SDHA):c.546G>A (p.Lys182=)
|
rs757707693
|
0.00001
|
|
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)
|
rs775827529
|
0.00001
|
|
NM_004168.4(SDHA):c.558C>T (p.Ala186=)
|
rs199618059
|
0.00001
|
|
NM_004168.4(SDHA):c.560A>G (p.His187Arg)
|
rs1236616384
|
0.00001
|
|
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp)
|
rs553257776
|
0.00001
|
|
NM_004168.4(SDHA):c.564G>A (p.Arg188=)
|
rs1579385933
|
0.00001
|
|
NM_004168.4(SDHA):c.568T>C (p.Cys190Arg)
|
rs908267345
|
0.00001
|
|
NM_004168.4(SDHA):c.572G>A (p.Cys191Tyr)
|
rs1393298155
|
0.00001
|
|
NM_004168.4(SDHA):c.57C>G (p.Ala19=)
|
rs749948037
|
0.00001
|
|
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln)
|
rs762956849
|
0.00001
|
|
NM_004168.4(SDHA):c.585G>C (p.Arg195=)
|
rs766339992
|
0.00001
|
|
NM_004168.4(SDHA):c.595T>A (p.Ser199Thr)
|
rs770407681
|
0.00001
|
|
NM_004168.4(SDHA):c.596C>T (p.Ser199Leu)
|
rs878854633
|
0.00001
|
|
NM_004168.4(SDHA):c.621+10C>T
|
rs1458669735
|
0.00001
|
|
NM_004168.4(SDHA):c.621+19A>G
|
rs772849135
|
0.00001
|
|
NM_004168.4(SDHA):c.621+8C>T
|
rs201091275
|
0.00001
|
|
NM_004168.4(SDHA):c.621+9G>A
|
rs1060505005
|
0.00001
|
|
NM_004168.4(SDHA):c.627G>A (p.Leu209=)
|
rs149821224
|
0.00001
|
|
NM_004168.4(SDHA):c.629G>A (p.Arg210Gln)
|
rs762108779
|
0.00001
|
|
NM_004168.4(SDHA):c.63+16G>C
|
rs1252759825
|
0.00001
|
|
NM_004168.4(SDHA):c.632A>G (p.Tyr211Cys)
|
rs1235961098
|
0.00001
|
|
NM_004168.4(SDHA):c.633T>C (p.Tyr211=)
|
rs1307665893
|
0.00001
|
|
NM_004168.4(SDHA):c.64-12C>T
|
rs769476810
|
0.00001
|
|
NM_004168.4(SDHA):c.64-15C>T
|
rs1388748464
|
0.00001
|
|
NM_004168.4(SDHA):c.64-19G>A
|
rs1490248268
|
0.00001
|
|
NM_004168.4(SDHA):c.64-3C>T
|
rs772607568
|
0.00001
|
|
NM_004168.4(SDHA):c.640A>G (p.Ser214Gly)
|
rs752144637
|
0.00001
|
|
NM_004168.4(SDHA):c.666G>T (p.Leu222Phe)
|
rs778256616
|
0.00001
|
|
NM_004168.4(SDHA):c.687G>A (p.Gly229=)
|
rs775359678
|
0.00001
|
|
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys)
|
rs878854635
|
0.00001
|
|
NM_004168.4(SDHA):c.6G>A (p.Ser2=)
|
rs751383247
|
0.00001
|
|
NM_004168.4(SDHA):c.702C>T (p.Val234=)
|
rs1205748459
|
0.00001
|
|
NM_004168.4(SDHA):c.707C>T (p.Ala236Val)
|
rs1060503703
|
0.00001
|
|
NM_004168.4(SDHA):c.708A>G (p.Ala236=)
|
rs774277601
|
0.00001
|
|
NM_004168.4(SDHA):c.709C>T (p.Leu237=)
|
rs1735173554
|
0.00001
|
|
NM_004168.4(SDHA):c.715A>T (p.Ile239Leu)
|
rs760106352
|
0.00001
|
|
NM_004168.4(SDHA):c.724G>A (p.Gly242Arg)
|
rs764534044
|
0.00001
|
|
NM_004168.4(SDHA):c.729C>T (p.Ser243=)
|
rs778543446
|
0.00001
|
|
NM_004168.4(SDHA):c.730A>G (p.Ile244Val)
|
rs1162393515
|
0.00001
|
|
NM_004168.4(SDHA):c.752A>C (p.Asn251Thr)
|
rs1318566276
|
0.00001
|
|
NM_004168.4(SDHA):c.753C>G (p.Asn251Lys)
|
rs1126411
|
0.00001
|
|
NM_004168.4(SDHA):c.766A>G (p.Thr256Ala)
|
rs1409070000
|
0.00001
|
|
NM_004168.4(SDHA):c.770+7A>T
|
rs770997653
|
0.00001
|
|
NM_004168.4(SDHA):c.776A>G (p.Tyr259Cys)
|
rs1579397049
|
0.00001
|
|
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg)
|
rs940845256
|
0.00001
|
|
NM_004168.4(SDHA):c.781C>T (p.Arg261Cys)
|
rs143484394
|
0.00001
|
|
NM_004168.4(SDHA):c.782G>A (p.Arg261His)
|
rs769228279
|
0.00001
|
|
NM_004168.4(SDHA):c.792C>G (p.Phe264Leu)
|
rs1237513803
|
0.00001
|
|
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser)
|
rs765611464
|
0.00001
|
|
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)
|
rs587781720
|
0.00001
|
|
NM_004168.4(SDHA):c.831G>A (p.Thr277=)
|
rs1470632146
|
0.00001
|
|
NM_004168.4(SDHA):c.832G>A (p.Ala278Thr)
|
rs1178613645
|
0.00001
|
|
NM_004168.4(SDHA):c.835A>G (p.Met279Val)
|
rs755913710
|
0.00001
|
|
NM_004168.4(SDHA):c.852C>A (p.Gly284=)
|
rs552108762
|
0.00001
|
|
NM_004168.4(SDHA):c.852C>G (p.Gly284=)
|
rs552108762
|
0.00001
|
|
NM_004168.4(SDHA):c.853C>T (p.Leu285Phe)
|
rs747045191
|
0.00001
|
|
NM_004168.4(SDHA):c.858T>A (p.Pro286=)
|
rs1553998661
|
0.00001
|
|
NM_004168.4(SDHA):c.861C>G (p.Cys287Trp)
|
rs140797184
|
0.00001
|
|
NM_004168.4(SDHA):c.869T>C (p.Leu290Pro)
|
rs1333787672
|
0.00001
|
|
NM_004168.4(SDHA):c.86G>A (p.Gly29Glu)
|
rs1436200566
|
0.00001
|
|
NM_004168.4(SDHA):c.889C>T (p.Pro297Ser)
|
rs1224049075
|
0.00001
|
|
NM_004168.4(SDHA):c.895+6G>A
|
rs765946047
|
0.00001
|
|
NM_004168.4(SDHA):c.895+8A>G
|
rs892273080
|
0.00001
|
|
NM_004168.4(SDHA):c.896-4G>A
|
rs555881974
|
0.00001
|
|
NM_004168.4(SDHA):c.901T>C (p.Tyr301His)
|
rs1060503713
|
0.00001
|
|
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)
|
rs182055219
|
0.00001
|
|
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr)
|
rs878854638
|
0.00001
|
|
NM_004168.4(SDHA):c.919A>G (p.Ile307Val)
|
rs200632016
|
0.00001
|
|
NM_004168.4(SDHA):c.923C>T (p.Thr308Met)
|
rs1457666982
|
0.00001
|
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
0.00001
|
|
NM_004168.4(SDHA):c.954C>T (p.Leu318=)
|
rs1412623947
|
0.00001
|
|
NM_004168.4(SDHA):c.960C>T (p.Asn320=)
|
rs1289327970
|
0.00001
|
|
NM_004168.4(SDHA):c.962G>T (p.Ser321Ile)
|
rs751896104
|
0.00001
|
|
NM_004168.4(SDHA):c.973A>T (p.Arg325Trp)
|
rs1735554095
|
0.00001
|
|
NM_004168.4(SDHA):c.975G>A (p.Arg325=)
|
rs1418778005
|
0.00001
|
|
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter)
|
rs771328239
|
0.00001
|
|
NM_004168.4(SDHA):c.986G>A (p.Arg329Gln)
|
rs138265892
|
0.00001
|
|
NM_004168.4(SDHA):c.990C>T (p.Tyr330=)
|
rs370547766
|
0.00001
|
|
NM_004168.4(SDHA):c.997G>A (p.Val333Ile)
|
rs1062468
|
0.00001
|
|
NM_004168.4(SDHA):c.9G>T (p.Gly3=)
|
rs1252447154
|
0.00001
|
|
NM_004281.4(BAG3):c.1011C>T (p.Ile337=)
|
rs1434506876
|
0.00001
|
|
NM_004281.4(BAG3):c.1012C>T (p.Pro338Ser)
|
rs1319754171
|
0.00001
|
|
NM_004281.4(BAG3):c.101C>T (p.Thr34Ile)
|
rs1387616851
|
0.00001
|
|
NM_004281.4(BAG3):c.1027C>T (p.Arg343Cys)
|
rs768613403
|
0.00001
|
|
NM_004281.4(BAG3):c.1035G>C (p.Glu345Asp)
|
rs1057522401
|
0.00001
|
|
NM_004281.4(BAG3):c.103G>A (p.Gly35Ser)
|
rs200072558
|
0.00001
|
|
NM_004281.4(BAG3):c.1050T>G (p.Pro350=)
|
rs765865667
|
0.00001
|
|
NM_004281.4(BAG3):c.1058A>G (p.Gln353Arg)
|
rs764432849
|
0.00001
|
|
NM_004281.4(BAG3):c.1062G>A (p.Lys354=)
|
rs577392366
|
0.00001
|
|
NM_004281.4(BAG3):c.1085T>C (p.Val362Ala)
|
rs200812717
|
0.00001
|
|
NM_004281.4(BAG3):c.1086A>T (p.Val362=)
|
rs1847239230
|
0.00001
|
|
NM_004281.4(BAG3):c.109C>T (p.Pro37Ser)
|
rs764177199
|
0.00001
|
|
NM_004281.4(BAG3):c.1100C>G (p.Pro367Arg)
|
rs786205347
|
0.00001
|
|
NM_004281.4(BAG3):c.1109C>T (p.Pro370Leu)
|
rs746602007
|
0.00001
|
|
NM_004281.4(BAG3):c.1118G>A (p.Cys373Tyr)
|
rs876657745
|
0.00001
|
|
NM_004281.4(BAG3):c.1139C>T (p.Pro380Leu)
|
rs769467386
|
0.00001
|
|
NM_004281.4(BAG3):c.1141T>C (p.Ser381Pro)
|
rs763427403
|
0.00001
|
|
NM_004281.4(BAG3):c.1160C>T (p.Pro387Leu)
|
rs1060502816
|
0.00001
|
|
NM_004281.4(BAG3):c.1168G>A (p.Val390Met)
|
rs1847242044
|
0.00001
|
|
NM_004281.4(BAG3):c.1169T>C (p.Val390Ala)
|
rs1421913723
|
0.00001
|
|
NM_004281.4(BAG3):c.1179A>G (p.Glu393=)
|
rs780963692
|
0.00001
|
|
NM_004281.4(BAG3):c.1182G>A (p.Glu394=)
|
rs1847242297
|
0.00001
|
|
NM_004281.4(BAG3):c.1184G>A (p.Arg395Lys)
|
rs111787446
|
0.00001
|
|
NM_004281.4(BAG3):c.1202C>G (p.Ala401Gly)
|
rs775153939
|
0.00001
|
|
NM_004281.4(BAG3):c.1217C>T (p.Thr406Ile)
|
rs727502900
|
0.00001
|
|
NM_004281.4(BAG3):c.1231G>A (p.Gly411Arg)
|
rs750627409
|
0.00001
|
|
NM_004281.4(BAG3):c.1250C>A (p.Pro417Gln)
|
rs751558069
|
0.00001
|
|
NM_004281.4(BAG3):c.1266G>C (p.Val422=)
|
rs779661440
|
0.00001
|
|
NM_004281.4(BAG3):c.1275G>A (p.Val425=)
|
rs1462718739
|
0.00001
|
|
NM_004281.4(BAG3):c.1288G>A (p.Glu430Lys)
|
rs774713887
|
0.00001
|
|
NM_004281.4(BAG3):c.1289A>T (p.Glu430Val)
|
rs748744340
|
0.00001
|
|
NM_004281.4(BAG3):c.1299G>A (p.Gln433=)
|
rs374858685
|
0.00001
|
|
NM_004281.4(BAG3):c.129C>T (p.Asn43=)
|
rs778921699
|
0.00001
|
|
NM_004281.4(BAG3):c.1323C>A (p.Asn441Lys)
|
rs1325704409
|
0.00001
|
|
NM_004281.4(BAG3):c.1354C>T (p.Leu452=)
|
rs751439966
|
0.00001
|
|
NM_004281.4(BAG3):c.1365A>G (p.Glu455=)
|
rs1847246196
|
0.00001
|
|
NM_004281.4(BAG3):c.1372T>C (p.Leu458=)
|
rs1176479605
|
0.00001
|
|
NM_004281.4(BAG3):c.1398T>C (p.Asp466=)
|
rs1589632842
|
0.00001
|
|
NM_004281.4(BAG3):c.13A>G (p.Thr5Ala)
|
rs777752849
|
0.00001
|
|
NM_004281.4(BAG3):c.1407C>A (p.Asp469Glu)
|
rs1381722756
|
0.00001
|
|
NM_004281.4(BAG3):c.1410C>T (p.Pro470=)
|
rs749034517
|
0.00001
|
|
NM_004281.4(BAG3):c.1418G>A (p.Arg473Gln)
|
rs150156178
|
0.00001
|
|
NM_004281.4(BAG3):c.1425T>C (p.Asp475=)
|
rs376404396
|
0.00001
|
|
NM_004281.4(BAG3):c.1429C>T (p.Arg477Cys)
|
rs775645671
|
0.00001
|
|
NM_004281.4(BAG3):c.1447G>A (p.Gly483Ser)
|
rs570294713
|
0.00001
|
|
NM_004281.4(BAG3):c.1469T>C (p.Ile490Thr)
|
rs1251253467
|
0.00001
|
|
NM_004281.4(BAG3):c.1477A>G (p.Lys493Glu)
|
rs1362214797
|
0.00001
|
|
NM_004281.4(BAG3):c.1570A>G (p.Ile524Val)
|
rs764925485
|
0.00001
|
|
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr)
|
rs752390475
|
0.00001
|
|
NM_004281.4(BAG3):c.1582G>C (p.Gly528Arg)
|
rs752007619
|
0.00001
|
|
NM_004281.4(BAG3):c.1586C>G (p.Ala529Gly)
|
rs369690617
|
0.00001
|
|
NM_004281.4(BAG3):c.1593A>G (p.Ala531=)
|
rs1057521271
|
0.00001
|
|
NM_004281.4(BAG3):c.1623T>A (p.Asn541Lys)
|
rs774573497
|
0.00001
|
|
NM_004281.4(BAG3):c.1624G>T (p.Ala542Ser)
|
rs760485616
|
0.00001
|
|
NM_004281.4(BAG3):c.1628_1633del (p.Glu543_Pro545delinsAla)
|
rs1847251591
|
0.00001
|
|
NM_004281.4(BAG3):c.1637A>T (p.His546Leu)
|
rs1334550097
|
0.00001
|
|
NM_004281.4(BAG3):c.1639A>C (p.Thr547Pro)
|
rs1057523768
|
0.00001
|
|
NM_004281.4(BAG3):c.1641A>G (p.Thr547=)
|
rs1384879030
|
0.00001
|
|
NM_004281.4(BAG3):c.1642G>C (p.Glu548Gln)
|
rs1335289497
|
0.00001
|
|
NM_004281.4(BAG3):c.164C>T (p.Pro55Leu)
|
rs1277623691
|
0.00001
|
|
NM_004281.4(BAG3):c.1664C>A (p.Thr555Lys)
|
rs1322157514
|
0.00001
|
|
NM_004281.4(BAG3):c.1685C>T (p.Pro562Leu)
|
rs1188545828
|
0.00001
|
|
NM_004281.4(BAG3):c.1698A>G (p.Thr566=)
|
rs199837016
|
0.00001
|
|
NM_004281.4(BAG3):c.1702A>G (p.Thr568Ala)
|
rs1407009048
|
0.00001
|
|
NM_004281.4(BAG3):c.1720G>T (p.Ala574Ser)
|
rs779083262
|
0.00001
|
|
NM_004281.4(BAG3):c.1724C>T (p.Pro575Leu)
|
rs748233260
|
0.00001
|
|
NM_004281.4(BAG3):c.1725G>A (p.Pro575=)
|
rs772087416
|
0.00001
|
|
NM_004281.4(BAG3):c.179A>G (p.Lys60Arg)
|
rs1212877946
|
0.00001
|
|
NM_004281.4(BAG3):c.180+9G>C
|
rs1433391589
|
0.00001
|
|
NM_004281.4(BAG3):c.181G>A (p.Glu61Lys)
|
rs187116556
|
0.00001
|
|
NM_004281.4(BAG3):c.283C>G (p.Pro95Ala)
|
rs727502898
|
0.00001
|
|
NM_004281.4(BAG3):c.299A>G (p.His100Arg)
|
rs1847122709
|
0.00001
|
|
NM_004281.4(BAG3):c.305G>A (p.Gly102Asp)
|
rs1554877016
|
0.00001
|
|
NM_004281.4(BAG3):c.306C>T (p.Gly102=)
|
rs202006167
|
0.00001
|
|
NM_004281.4(BAG3):c.307G>A (p.Ala103Thr)
|
rs774085716
|
0.00001
|
|
NM_004281.4(BAG3):c.315C>G (p.Asn105Lys)
|
rs566015884
|
0.00001
|
|
NM_004281.4(BAG3):c.322G>A (p.Val108Met)
|
rs730880053
|
0.00001
|
|
NM_004281.4(BAG3):c.325C>T (p.His109Tyr)
|
rs753302310
|
0.00001
|
|
NM_004281.4(BAG3):c.337G>A (p.Val113Ile)
|
rs781093275
|
0.00001
|
|
NM_004281.4(BAG3):c.339C>T (p.Val113=)
|
rs367861849
|
0.00001
|
|
NM_004281.4(BAG3):c.341A>G (p.Tyr114Cys)
|
rs769813479
|
0.00001
|
|
NM_004281.4(BAG3):c.343C>T (p.Pro115Ser)
|
rs774241343
|
0.00001
|
|
NM_004281.4(BAG3):c.348G>C (p.Gln116His)
|
rs761808716
|
0.00001
|
|
NM_004281.4(BAG3):c.362G>A (p.Arg121Gln)
|
rs876657746
|
0.00001
|
|
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)
|
rs387906875
|
0.00001
|
|
NM_004281.4(BAG3):c.368G>A (p.Arg123Gln)
|
rs199991063
|
0.00001
|
|
NM_004281.4(BAG3):c.372T>G (p.Thr124=)
|
rs766084373
|
0.00001
|
|
NM_004281.4(BAG3):c.416G>A (p.Arg139Gln)
|
rs769913236
|
0.00001
|
|
NM_004281.4(BAG3):c.418G>A (p.Gly140Ser)
|
rs780169403
|
0.00001
|
|
NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr)
|
rs770678896
|
0.00001
|
|
NM_004281.4(BAG3):c.460G>C (p.Val154Leu)
|
rs376198104
|
0.00001
|
|
NM_004281.4(BAG3):c.465A>G (p.Ala155=)
|
rs775151738
|
0.00001
|
|
NM_004281.4(BAG3):c.46A>G (p.Asn16Asp)
|
rs1474784659
|
0.00001
|
|
NM_004281.4(BAG3):c.473C>T (p.Ala158Val)
|
rs369981590
|
0.00001
|
|
NM_004281.4(BAG3):c.480C>T (p.Ala160=)
|
rs749405417
|
0.00001
|
|
NM_004281.4(BAG3):c.508-17C>T
|
rs1410668640
|
0.00001
|
|
NM_004281.4(BAG3):c.508-4dup
|
rs1426366988
|
0.00001
|
|
NM_004281.4(BAG3):c.50G>C (p.Gly17Ala)
|
rs1846842565
|
0.00001
|
|
NM_004281.4(BAG3):c.515A>G (p.Gln172Arg)
|
rs1847160177
|
0.00001
|
|
NM_004281.4(BAG3):c.524C>T (p.Ala175Val)
|
rs1847160512
|
0.00001
|
|
NM_004281.4(BAG3):c.542C>T (p.Ser181Phe)
|
rs1482925321
|
0.00001
|
|
NM_004281.4(BAG3):c.557C>T (p.Ala186Val)
|
rs766766600
|
0.00001
|
|
NM_004281.4(BAG3):c.55C>T (p.Arg19Cys)
|
rs727502896
|
0.00001
|
|
NM_004281.4(BAG3):c.564G>T (p.Leu188=)
|
rs886046754
|
0.00001
|
|
NM_004281.4(BAG3):c.573C>T (p.Ser191=)
|
rs753386051
|
0.00001
|
|
NM_004281.4(BAG3):c.578G>A (p.Arg193Lys)
|
rs752722473
|
0.00001
|
|
NM_004281.4(BAG3):c.585C>T (p.Ser195=)
|
rs1286023578
|
0.00001
|
|
NM_004281.4(BAG3):c.591C>T (p.Gly197=)
|
rs1290410347
|
0.00001
|
|
NM_004281.4(BAG3):c.607C>A (p.Arg203=)
|
rs1047671466
|
0.00001
|
|
NM_004281.4(BAG3):c.607C>T (p.Arg203Trp)
|
rs1047671466
|
0.00001
|
|
NM_004281.4(BAG3):c.646G>A (p.Val216Ile)
|
rs148282376
|
0.00001
|
|
NM_004281.4(BAG3):c.67C>T (p.Pro23Ser)
|
rs747846089
|
0.00001
|
|
NM_004281.4(BAG3):c.692C>T (p.Thr231Met)
|
rs747454279
|
0.00001
|
|
NM_004281.4(BAG3):c.704C>T (p.Ala235Val)
|
rs371731106
|
0.00001
|
|
NM_004281.4(BAG3):c.710A>G (p.Gln237Arg)
|
rs1589630230
|
0.00001
|
|
NM_004281.4(BAG3):c.71C>G (p.Pro24Arg)
|
rs771609568
|
0.00001
|
|
NM_004281.4(BAG3):c.72C>A (p.Pro24=)
|
rs964684316
|
0.00001
|
|
NM_004281.4(BAG3):c.770C>T (p.Pro257Leu)
|
rs765142940
|
0.00001
|
|
NM_004281.4(BAG3):c.775C>T (p.Pro259Ser)
|
rs375687199
|
0.00001
|
|
NM_004281.4(BAG3):c.786G>A (p.Ala262=)
|
rs775938242
|
0.00001
|
|
NM_004281.4(BAG3):c.794C>T (p.Pro265Leu)
|
rs769034041
|
0.00001
|
|
NM_004281.4(BAG3):c.826C>T (p.Arg276Trp)
|
rs759573189
|
0.00001
|
|
NM_004281.4(BAG3):c.828G>A (p.Arg276=)
|
rs752538980
|
0.00001
|
|
NM_004281.4(BAG3):c.836C>T (p.Ser279Leu)
|
rs751261054
|
0.00001
|
|
NM_004281.4(BAG3):c.838C>T (p.Pro280Ser)
|
rs1210697765
|
0.00001
|
|
NM_004281.4(BAG3):c.841G>A (p.Ala281Thr)
|
rs1248777510
|
0.00001
|
|
NM_004281.4(BAG3):c.844A>G (p.Arg282Gly)
|
rs1847167969
|
0.00001
|
|
NM_004281.4(BAG3):c.858A>G (p.Pro286=)
|
rs756650132
|
0.00001
|
|
NM_004281.4(BAG3):c.881G>A (p.Arg294His)
|
rs151335530
|
0.00001
|
|
NM_004281.4(BAG3):c.88A>G (p.Ile30Val)
|
rs766796091
|
0.00001
|
|
NM_004281.4(BAG3):c.905C>T (p.Pro302Leu)
|
rs201416791
|
0.00001
|
|
NM_004281.4(BAG3):c.909+4C>T
|
rs376351857
|
0.00001
|
|
NM_004281.4(BAG3):c.910-2A>C
|
rs762944997
|
0.00001
|
|
NM_004281.4(BAG3):c.944C>T (p.Ser315Phe)
|
rs1060502818
|
0.00001
|
|
NM_004281.4(BAG3):c.947A>G (p.Gln316Arg)
|
rs1246603543
|
0.00001
|
|
NM_004281.4(BAG3):c.957C>G (p.Asn319Lys)
|
rs767223665
|
0.00001
|
|
NM_004281.4(BAG3):c.988C>T (p.Pro330Ser)
|
rs762376423
|
0.00001
|
|
NM_004281.4(BAG3):c.997C>T (p.Pro333Ser)
|
rs1393181351
|
0.00001
|
|
NM_004369.4(COL6A3):c.1006C>T (p.Arg336Trp)
|
rs200720222
|
0.00001
|
|
NM_004369.4(COL6A3):c.1007G>A (p.Arg336Gln)
|
rs745667305
|
0.00001
|
|
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His)
|
rs140510298
|
0.00001
|
|
NM_004369.4(COL6A3):c.1023C>T (p.Arg341=)
|
rs779564611
|
0.00001
|
|
NM_004369.4(COL6A3):c.1045G>A (p.Val349Met)
|
rs1464663206
|
0.00001
|
|
NM_004369.4(COL6A3):c.1061G>A (p.Ser354Asn)
|
rs1416475329
|
0.00001
|
|
NM_004369.4(COL6A3):c.1066G>A (p.Gly356Arg)
|
rs200795795
|
0.00001
|
|
NM_004369.4(COL6A3):c.1075A>G (p.Ser359Gly)
|
rs114235473
|
0.00001
|
|
NM_004369.4(COL6A3):c.107C>T (p.Ala36Val)
|
rs572020866
|
0.00001
|
|
NM_004369.4(COL6A3):c.1080C>T (p.Asp360=)
|
rs762463347
|
0.00001
|
|
NM_004369.4(COL6A3):c.1093G>A (p.Gly365Arg)
|
rs778069171
|
0.00001
|
|
NM_004369.4(COL6A3):c.1147G>A (p.Ala383Thr)
|
rs146429448
|
0.00001
|
|
NM_004369.4(COL6A3):c.1149C>T (p.Ala383=)
|
rs139016980
|
0.00001
|
|
NM_004369.4(COL6A3):c.1152C>A (p.Ala384=)
|
rs1207676038
|
0.00001
|
|
NM_004369.4(COL6A3):c.117T>C (p.Asp39=)
|
rs1574757082
|
0.00001
|
|
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)
|
rs181264679
|
0.00001
|
|
NM_004369.4(COL6A3):c.1356C>T (p.Gly452=)
|
rs761005162
|
0.00001
|
|
NM_004369.4(COL6A3):c.1370G>T (p.Gly457Val)
|
rs377757978
|
0.00001
|
|
NM_004369.4(COL6A3):c.1380C>G (p.Asn460Lys)
|
rs779588195
|
0.00001
|
|
NM_004369.4(COL6A3):c.13C>T (p.Arg5Trp)
|
rs752738273
|
0.00001
|
|
NM_004369.4(COL6A3):c.1415T>C (p.Ile472Thr)
|
rs757316442
|
0.00001
|
|
NM_004369.4(COL6A3):c.1432G>A (p.Gly478Arg)
|
rs777693832
|
0.00001
|
|
NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile)
|
rs776324215
|
0.00001
|
|
NM_004369.4(COL6A3):c.1534G>A (p.Val512Met)
|
rs1386395959
|
0.00001
|
|
NM_004369.4(COL6A3):c.154G>A (p.Glu52Lys)
|
rs188510971
|
0.00001
|
|
NM_004369.4(COL6A3):c.1559G>C (p.Gly520Ala)
|
rs770496206
|
0.00001
|
|
NM_004369.4(COL6A3):c.1563G>A (p.Ser521=)
|
rs773149146
|
0.00001
|
|
NM_004369.4(COL6A3):c.1570T>C (p.Tyr524His)
|
rs993649247
|
0.00001
|
|
NM_004369.4(COL6A3):c.1576G>A (p.Gly526Ser)
|
rs780262157
|
0.00001
|
|
NM_004369.4(COL6A3):c.1583C>T (p.Ala528Val)
|
rs756181209
|
0.00001
|
|
NM_004369.4(COL6A3):c.1587A>G (p.Leu529=)
|
rs574912582
|
0.00001
|
|
NM_004369.4(COL6A3):c.1620A>G (p.Ser540=)
|
rs200205650
|
0.00001
|
|
NM_004369.4(COL6A3):c.1624G>A (p.Gly542Ser)
|
rs756045079
|
0.00001
|
|
NM_004369.4(COL6A3):c.1627T>C (p.Tyr543His)
|
rs539057609
|
0.00001
|
|
NM_004369.4(COL6A3):c.1639G>A (p.Glu547Lys)
|
rs1278327904
|
0.00001
|
|
NM_004369.4(COL6A3):c.163T>G (p.Phe55Val)
|
rs753189030
|
0.00001
|
|
NM_004369.4(COL6A3):c.1669A>G (p.Thr557Ala)
|
rs1362702190
|
0.00001
|
|
NM_004369.4(COL6A3):c.1727G>A (p.Ser576Asn)
|
rs1291470412
|
0.00001
|
|
NM_004369.4(COL6A3):c.1759G>T (p.Ala587Ser)
|
rs2077990679
|
0.00001
|
|
NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn)
|
rs886043408
|
0.00001
|
|
NM_004369.4(COL6A3):c.1770T>C (p.Ala590=)
|
rs774234847
|
0.00001
|
|
NM_004369.4(COL6A3):c.1812C>T (p.Ile604=)
|
rs138036318
|
0.00001
|
|
NM_004369.4(COL6A3):c.1825C>T (p.Arg609Ter)
|
rs755382829
|
0.00001
|
|
NM_004369.4(COL6A3):c.1833C>T (p.Ala611=)
|
rs368242683
|
0.00001
|
|
NM_004369.4(COL6A3):c.1897+1G>T
|
rs1230578718
|
0.00001
|
|
NM_004369.4(COL6A3):c.1897+6G>A
|
rs1189511183
|
0.00001
|
|
NM_004369.4(COL6A3):c.1906A>G (p.Asn636Asp)
|
rs111379417
|
0.00001
|
|
NM_004369.4(COL6A3):c.1939T>A (p.Ser647Thr)
|
rs777409908
|
0.00001
|
|
NM_004369.4(COL6A3):c.1958C>A (p.Thr653Asn)
|
rs753557181
|
0.00001
|
|
NM_004369.4(COL6A3):c.1971T>C (p.Tyr657=)
|
rs970623100
|
0.00001
|
|
NM_004369.4(COL6A3):c.2071T>C (p.Phe691Leu)
|
rs1347014329
|
0.00001
|
|
NM_004369.4(COL6A3):c.2133C>T (p.Leu711=)
|
rs1166349776
|
0.00001
|
|
NM_004369.4(COL6A3):c.2148C>T (p.Gly716=)
|
rs1204913393
|
0.00001
|
|
NM_004369.4(COL6A3):c.2232G>A (p.Pro744=)
|
rs368826874
|
0.00001
|
|
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile)
|
rs755052076
|
0.00001
|
|
NM_004369.4(COL6A3):c.2260C>A (p.Gln754Lys)
|
rs763798987
|
0.00001
|
|
NM_004369.4(COL6A3):c.2261A>G (p.Gln754Arg)
|
rs762752112
|
0.00001
|
|
NM_004369.4(COL6A3):c.2284G>A (p.Ala762Thr)
|
rs759150949
|
0.00001
|
|
NM_004369.4(COL6A3):c.2307G>A (p.Ala769=)
|
rs780578768
|
0.00001
|
|
NM_004369.4(COL6A3):c.2324G>A (p.Cys775Tyr)
|
rs756337970
|
0.00001
|
|
NM_004369.4(COL6A3):c.2342C>T (p.Ala781Val)
|
rs116753562
|
0.00001
|
|
NM_004369.4(COL6A3):c.2352A>G (p.Ala784=)
|
rs759099641
|
0.00001
|
|
NM_004369.4(COL6A3):c.2360A>G (p.Glu787Gly)
|
rs773202559
|
0.00001
|
|
NM_004369.4(COL6A3):c.2362C>T (p.Gln788Ter)
|
rs948586287
|
0.00001
|
|
NM_004369.4(COL6A3):c.2376C>T (p.Asn792=)
|
rs1038000360
|
0.00001
|
|
NM_004369.4(COL6A3):c.2378C>T (p.Pro793Leu)
|
rs747957874
|
0.00001
|
|
NM_004369.4(COL6A3):c.2397G>A (p.Met799Ile)
|
rs768905903
|
0.00001
|
|
NM_004369.4(COL6A3):c.2400T>A (p.Asp800Glu)
|
rs374774989
|
0.00001
|
|
NM_004369.4(COL6A3):c.2487C>T (p.Leu829=)
|
rs752530417
|
0.00001
|
|
NM_004369.4(COL6A3):c.2505G>A (p.Lys835=)
|
rs892390706
|
0.00001
|
|
NM_004369.4(COL6A3):c.2512A>T (p.Ile838Phe)
|
rs1455744375
|
0.00001
|
|
NM_004369.4(COL6A3):c.2589C>T (p.Ile863=)
|
rs376409920
|
0.00001
|
|
NM_004369.4(COL6A3):c.2601T>C (p.Asn867=)
|
rs764115723
|
0.00001
|
|
NM_004369.4(COL6A3):c.260C>G (p.Pro87Arg)
|
rs200887514
|
0.00001
|
|
NM_004369.4(COL6A3):c.2627C>T (p.Ala876Val)
|
rs771091001
|
0.00001
|
|
NM_004369.4(COL6A3):c.2628G>A (p.Ala876=)
|
rs919417658
|
0.00001
|
|
NM_004369.4(COL6A3):c.262C>T (p.His88Tyr)
|
rs773999183
|
0.00001
|
|
NM_004369.4(COL6A3):c.2633C>G (p.Ala878Gly)
|
rs1326943912
|
0.00001
|
|
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys)
|
rs201327438
|
0.00001
|
|
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys)
|
rs760380736
|
0.00001
|
|
NM_004369.4(COL6A3):c.2722A>T (p.Ile908Phe)
|
rs1370199768
|
0.00001
|
|
NM_004369.4(COL6A3):c.2732G>A (p.Gly911Asp)
|
rs149310819
|
0.00001
|
|
NM_004369.4(COL6A3):c.2796T>C (p.Ala932=)
|
rs1158876557
|
0.00001
|
|
NM_004369.4(COL6A3):c.2808C>T (p.Ile936=)
|
rs116256579
|
0.00001
|
|
NM_004369.4(COL6A3):c.2821C>T (p.Leu941Phe)
|
rs1441141878
|
0.00001
|
|
NM_004369.4(COL6A3):c.2822T>C (p.Leu941Pro)
|
rs1339733240
|
0.00001
|
|
NM_004369.4(COL6A3):c.2830C>T (p.Leu944=)
|
rs886470638
|
0.00001
|
|
NM_004369.4(COL6A3):c.2845G>A (p.Ala949Thr)
|
rs374960915
|
0.00001
|
|
NM_004369.4(COL6A3):c.2847A>G (p.Ala949=)
|
rs746610835
|
0.00001
|
|
NM_004369.4(COL6A3):c.284C>T (p.Thr95Met)
|
rs769697782
|
0.00001
|
|
NM_004369.4(COL6A3):c.2895G>T (p.Gln965His)
|
rs775993027
|
0.00001
|
|
NM_004369.4(COL6A3):c.2908C>T (p.Pro970Ser)
|
rs1226873582
|
0.00001
|
|
NM_004369.4(COL6A3):c.290G>A (p.Arg97His)
|
rs201249839
|
0.00001
|
|
NM_004369.4(COL6A3):c.2932G>A (p.Ala978Thr)
|
rs768292803
|
0.00001
|
|
NM_004369.4(COL6A3):c.2959G>A (p.Val987Met)
|
rs140437593
|
0.00001
|
|
NM_004369.4(COL6A3):c.2973G>A (p.Ala991=)
|
rs541545591
|
0.00001
|
|
NM_004369.4(COL6A3):c.3012T>C (p.Asp1004=)
|
rs745661734
|
0.00001
|
|
NM_004369.4(COL6A3):c.3053A>G (p.Asn1018Ser)
|
rs375167315
|
0.00001
|
|
NM_004369.4(COL6A3):c.3067C>T (p.Pro1023Ser)
|
rs556864605
|
0.00001
|
|
NM_004369.4(COL6A3):c.3070+4T>C
|
rs201456189
|
0.00001
|
|
NM_004369.4(COL6A3):c.3071-21_3071-18dup
|
rs1321741683
|
0.00001
|
|
NM_004369.4(COL6A3):c.3071-7C>G
|
rs370229367
|
0.00001
|
|
NM_004369.4(COL6A3):c.3115G>A (p.Gly1039Ser)
|
rs1465296993
|
0.00001
|
|
NM_004369.4(COL6A3):c.3117C>T (p.Gly1039=)
|
rs922629653
|
0.00001
|
|
NM_004369.4(COL6A3):c.3126C>T (p.Ser1042=)
|
rs372619164
|
0.00001
|
|
NM_004369.4(COL6A3):c.3127G>A (p.Gly1043Ser)
|
rs748313591
|
0.00001
|
|
NM_004369.4(COL6A3):c.3197G>A (p.Arg1066His)
|
rs768971873
|
0.00001
|
|
NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=)
|
rs200621867
|
0.00001
|
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
|
NM_004369.4(COL6A3):c.322A>G (p.Asn108Asp)
|
rs2078395425
|
0.00001
|
|
NM_004369.4(COL6A3):c.3234C>T (p.Pro1078=)
|
rs777909478
|
0.00001
|
|
NM_004369.4(COL6A3):c.3238T>A (p.Phe1080Ile)
|
rs761490778
|
0.00001
|
|
NM_004369.4(COL6A3):c.3257T>A (p.Met1086Lys)
|
rs1425555208
|
0.00001
|
|
NM_004369.4(COL6A3):c.3271G>A (p.Val1091Ile)
|
rs373915980
|
0.00001
|
|
NM_004369.4(COL6A3):c.3272T>A (p.Val1091Asp)
|
rs745854120
|
0.00001
|
|
NM_004369.4(COL6A3):c.3280G>A (p.Ala1094Thr)
|
rs369460632
|
0.00001
|
|
NM_004369.4(COL6A3):c.3319A>G (p.Asn1107Asp)
|
rs1574710031
|
0.00001
|
|
NM_004369.4(COL6A3):c.3392G>A (p.Gly1131Asp)
|
rs769494656
|
0.00001
|
|
NM_004369.4(COL6A3):c.3409A>T (p.Ile1137Phe)
|
rs2077785777
|
0.00001
|
|
NM_004369.4(COL6A3):c.3414C>T (p.Val1138=)
|
rs1022815311
|
0.00001
|
|
NM_004369.4(COL6A3):c.3424G>A (p.Asp1142Asn)
|
rs777599612
|
0.00001
|
|
NM_004369.4(COL6A3):c.345C>A (p.Thr115=)
|
rs371958092
|
0.00001
|
|
NM_004369.4(COL6A3):c.3462C>T (p.Val1154=)
|
rs762152367
|
0.00001
|
|
NM_004369.4(COL6A3):c.3470G>T (p.Arg1157Met)
|
rs727502838
|
0.00001
|
|
NM_004369.4(COL6A3):c.3501C>T (p.Ile1167=)
|
rs199998363
|
0.00001
|
|
NM_004369.4(COL6A3):c.3549C>G (p.Asp1183Glu)
|
rs762240306
|
0.00001
|
|
NM_004369.4(COL6A3):c.3569C>A (p.Thr1190Asn)
|
rs369994205
|
0.00001
|
|
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile)
|
rs949598599
|
0.00001
|
|
NM_004369.4(COL6A3):c.3619C>A (p.Gln1207Lys)
|
rs886042393
|
0.00001
|
|
NM_004369.4(COL6A3):c.3630C>T (p.Arg1210=)
|
rs757349824
|
0.00001
|
|
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro)
|
rs772944531
|
0.00001
|
|
NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser)
|
rs1321693848
|
0.00001
|
|
NM_004369.4(COL6A3):c.3714C>T (p.Ile1238=)
|
rs150911180
|
0.00001
|
|
NM_004369.4(COL6A3):c.3715G>A (p.Asp1239Asn)
|
rs563617159
|
0.00001
|
|
NM_004369.4(COL6A3):c.3738T>C (p.Pro1246=)
|
rs927612906
|
0.00001
|
|
NM_004369.4(COL6A3):c.3808C>T (p.Arg1270Trp)
|
rs781735632
|
0.00001
|
|
NM_004369.4(COL6A3):c.3809G>A (p.Arg1270Gln)
|
rs1057518127
|
0.00001
|
|
NM_004369.4(COL6A3):c.3810G>C (p.Arg1270=)
|
rs886042792
|
0.00001
|
|
NM_004369.4(COL6A3):c.3837C>A (p.Asp1279Glu)
|
rs372089952
|
0.00001
|
|
NM_004369.4(COL6A3):c.3841A>G (p.Lys1281Glu)
|
rs886043888
|
0.00001
|
|
NM_004369.4(COL6A3):c.3859A>T (p.Asn1287Tyr)
|
rs35799634
|
0.00001
|
|
NM_004369.4(COL6A3):c.3893C>T (p.Ala1298Val)
|
rs570869775
|
0.00001
|
|
NM_004369.4(COL6A3):c.3989G>C (p.Ser1330Thr)
|
rs779967310
|
0.00001
|
|
NM_004369.4(COL6A3):c.4021G>A (p.Val1341Ile)
|
rs1220087503
|
0.00001
|
|
NM_004369.4(COL6A3):c.4031C>T (p.Ser1344Leu)
|
rs777759049
|
0.00001
|
|
NM_004369.4(COL6A3):c.4059C>T (p.Asp1353=)
|
rs765355858
|
0.00001
|
|
NM_004369.4(COL6A3):c.4065G>A (p.Pro1355=)
|
rs766856187
|
0.00001
|
|
NM_004369.4(COL6A3):c.4068G>A (p.Ala1356=)
|
rs772443916
|
0.00001
|
|
NM_004369.4(COL6A3):c.4070T>C (p.Val1357Ala)
|
rs1480888719
|
0.00001
|
|
NM_004369.4(COL6A3):c.4072G>A (p.Glu1358Lys)
|
rs762544728
|
0.00001
|
|
NM_004369.4(COL6A3):c.4085T>A (p.Phe1362Tyr)
|
rs745420792
|
0.00001
|
|
NM_004369.4(COL6A3):c.409C>T (p.Arg137Trp)
|
rs143819673
|
0.00001
|
|
NM_004369.4(COL6A3):c.4104G>A (p.Thr1368=)
|
rs777649526
|
0.00001
|
|
NM_004369.4(COL6A3):c.410G>A (p.Arg137Gln)
|
rs779126378
|
0.00001
|
|
NM_004369.4(COL6A3):c.413C>T (p.Ala138Val)
|
rs1167973119
|
0.00001
|
|
NM_004369.4(COL6A3):c.4145C>T (p.Ser1382Leu)
|
rs767829363
|
0.00001
|
|
NM_004369.4(COL6A3):c.416G>T (p.Gly139Val)
|
rs780669785
|
0.00001
|
|
NM_004369.4(COL6A3):c.4199T>A (p.Leu1400Gln)
|
rs1210132500
|
0.00001
|
|
NM_004369.4(COL6A3):c.420C>T (p.Asp140=)
|
rs909857244
|
0.00001
|
|
NM_004369.4(COL6A3):c.421G>A (p.Gly141Arg)
|
rs398124120
|
0.00001
|
|
NM_004369.4(COL6A3):c.4221C>G (p.Pro1407=)
|
rs565366400
|
0.00001
|
|
NM_004369.4(COL6A3):c.4240G>C (p.Glu1414Gln)
|
rs539986030
|
0.00001
|
|
NM_004369.4(COL6A3):c.4263C>T (p.Ala1421=)
|
rs748103971
|
0.00001
|
|
NM_004369.4(COL6A3):c.4270C>T (p.Arg1424Cys)
|
rs768522226
|
0.00001
|
|
NM_004369.4(COL6A3):c.4285+7T>C
|
rs781660921
|
0.00001
|
|
NM_004369.4(COL6A3):c.4286-4G>A
|
rs779028717
|
0.00001
|
|
NM_004369.4(COL6A3):c.4306G>C (p.Asp1436His)
|
rs1168273415
|
0.00001
|
|
NM_004369.4(COL6A3):c.4318C>G (p.Leu1440Val)
|
rs1335664006
|
0.00001
|
|
NM_004369.4(COL6A3):c.4323C>T (p.Ile1441=)
|
rs747160916
|
0.00001
|
|
NM_004369.4(COL6A3):c.4366C>T (p.Arg1456Ter)
|
rs781043870
|
0.00001
|
|
NM_004369.4(COL6A3):c.4425T>C (p.Val1475=)
|
rs779603740
|
0.00001
|
|
NM_004369.4(COL6A3):c.4448A>T (p.Asp1483Val)
|
rs114736729
|
0.00001
|
|
NM_004369.4(COL6A3):c.4491C>T (p.Ala1497=)
|
rs558665283
|
0.00001
|
|
NM_004369.4(COL6A3):c.4497G>A (p.Val1499=)
|
rs749820906
|
0.00001
|
|
NM_004369.4(COL6A3):c.4513C>T (p.Arg1505Cys)
|
rs778816180
|
0.00001
|
|
NM_004369.4(COL6A3):c.4514G>A (p.Arg1505His)
|
rs754840728
|
0.00001
|
|
NM_004369.4(COL6A3):c.4524C>G (p.Leu1508=)
|
rs755902927
|
0.00001
|
|
NM_004369.4(COL6A3):c.4561G>A (p.Glu1521Lys)
|
rs113538665
|
0.00001
|
|
NM_004369.4(COL6A3):c.4599G>A (p.Gly1533=)
|
rs778335651
|
0.00001
|
|
NM_004369.4(COL6A3):c.4604G>A (p.Arg1535His)
|
rs115765346
|
0.00001
|
|
NM_004369.4(COL6A3):c.4617G>A (p.Gly1539=)
|
rs1420997887
|
0.00001
|
|
NM_004369.4(COL6A3):c.465G>A (p.Lys155=)
|
rs771817420
|
0.00001
|
|
NM_004369.4(COL6A3):c.4690C>T (p.Arg1564Cys)
|
rs200825417
|
0.00001
|
|
NM_004369.4(COL6A3):c.4726C>T (p.Arg1576Trp)
|
rs773979979
|
0.00001
|
|
NM_004369.4(COL6A3):c.4734C>T (p.Ile1578=)
|
rs774809714
|
0.00001
|
|
NM_004369.4(COL6A3):c.4774C>A (p.Leu1592Met)
|
rs1211026126
|
0.00001
|
|
NM_004369.4(COL6A3):c.4795T>C (p.Phe1599Leu)
|
rs911848582
|
0.00001
|
|
NM_004369.4(COL6A3):c.4819G>A (p.Glu1607Lys)
|
rs1386145634
|
0.00001
|
|
NM_004369.4(COL6A3):c.4823G>A (p.Arg1608Lys)
|
rs931661932
|
0.00001
|
|
NM_004369.4(COL6A3):c.482C>T (p.Pro161Leu)
|
rs1190967394
|
0.00001
|
|
NM_004369.4(COL6A3):c.4835C>T (p.Ser1612Leu)
|
rs201532239
|
0.00001
|
|
NM_004369.4(COL6A3):c.4842A>G (p.Gly1614=)
|
rs199531763
|
0.00001
|
|
NM_004369.4(COL6A3):c.486A>G (p.Ser162=)
|
rs1477252497
|
0.00001
|
|
NM_004369.4(COL6A3):c.4880C>A (p.Thr1627Asn)
|
rs149261556
|
0.00001
|
|
NM_004369.4(COL6A3):c.4932G>A (p.Leu1644=)
|
rs750374768
|
0.00001
|
|
NM_004369.4(COL6A3):c.4935T>C (p.Asp1645=)
|
rs767560639
|
0.00001
|
|
NM_004369.4(COL6A3):c.5003C>T (p.Thr1668Ile)
|
rs1341078916
|
0.00001
|
|
NM_004369.4(COL6A3):c.503C>T (p.Ala168Val)
|
rs757496683
|
0.00001
|
|
NM_004369.4(COL6A3):c.5045A>G (p.Gln1682Arg)
|
rs1026210962
|
0.00001
|
|
NM_004369.4(COL6A3):c.5113G>A (p.Ala1705Thr)
|
rs886042488
|
0.00001
|
|
NM_004369.4(COL6A3):c.5127G>A (p.Val1709=)
|
rs747509514
|
0.00001
|
|
NM_004369.4(COL6A3):c.5138G>A (p.Gly1713Glu)
|
rs779425587
|
0.00001
|
|
NM_004369.4(COL6A3):c.5143A>G (p.Arg1715Gly)
|
rs1365983591
|
0.00001
|
|
NM_004369.4(COL6A3):c.514G>A (p.Val172Met)
|
rs1270503233
|
0.00001
|
|
NM_004369.4(COL6A3):c.5162T>C (p.Val1721Ala)
|
rs752418797
|
0.00001
|
|
NM_004369.4(COL6A3):c.5163G>A (p.Val1721=)
|
rs759703082
|
0.00001
|
|
NM_004369.4(COL6A3):c.5182G>A (p.Val1728Ile)
|
rs772640905
|
0.00001
|
|
NM_004369.4(COL6A3):c.5222A>T (p.Gln1741Leu)
|
rs769177221
|
0.00001
|
|
NM_004369.4(COL6A3):c.522A>G (p.Ala174=)
|
rs1477904627
|
0.00001
|
|
NM_004369.4(COL6A3):c.5234A>G (p.Gln1745Arg)
|
rs756781502
|
0.00001
|
|
NM_004369.4(COL6A3):c.5244T>A (p.Phe1748Leu)
|
rs777266074
|
0.00001
|
|
NM_004369.4(COL6A3):c.5252C>T (p.Thr1751Met)
|
rs201147199
|
0.00001
|
|
NM_004369.4(COL6A3):c.5253G>A (p.Thr1751=)
|
rs886043174
|
0.00001
|
|
NM_004369.4(COL6A3):c.5264C>T (p.Ser1755Leu)
|
rs764975992
|
0.00001
|
|
NM_004369.4(COL6A3):c.5330G>T (p.Gly1777Val)
|
rs1477823319
|
0.00001
|
|
NM_004369.4(COL6A3):c.5339A>G (p.Asn1780Ser)
|
rs750040219
|
0.00001
|
|
NM_004369.4(COL6A3):c.5348C>T (p.Ser1783Leu)
|
rs1271500443
|
0.00001
|
|
NM_004369.4(COL6A3):c.5392C>T (p.Arg1798Cys)
|
rs886044508
|
0.00001
|
|
NM_004369.4(COL6A3):c.5432A>G (p.Gln1811Arg)
|
rs751626953
|
0.00001
|
|
NM_004369.4(COL6A3):c.5450A>G (p.His1817Arg)
|
rs1375661246
|
0.00001
|
|
NM_004369.4(COL6A3):c.5457G>A (p.Ala1819=)
|
rs377249790
|
0.00001
|
|
NM_004369.4(COL6A3):c.5461C>T (p.His1821Tyr)
|
rs2077562058
|
0.00001
|
|
NM_004369.4(COL6A3):c.5501-9C>A
|
rs1426149492
|
0.00001
|
|
NM_004369.4(COL6A3):c.5534G>T (p.Gly1845Val)
|
rs747200439
|
0.00001
|
|
NM_004369.4(COL6A3):c.5542G>A (p.Asp1848Asn)
|
rs78904746
|
0.00001
|
|
NM_004369.4(COL6A3):c.5547G>C (p.Gln1849His)
|
rs201313985
|
0.00001
|
|
NM_004369.4(COL6A3):c.5555T>C (p.Phe1852Ser)
|
rs148488423
|
0.00001
|
|
NM_004369.4(COL6A3):c.5574C>T (p.Phe1858=)
|
rs114259747
|
0.00001
|
|
NM_004369.4(COL6A3):c.5641C>T (p.Arg1881Cys)
|
rs772269570
|
0.00001
|
|
NM_004369.4(COL6A3):c.5642G>A (p.Arg1881His)
|
rs748330667
|
0.00001
|
|
NM_004369.4(COL6A3):c.5646G>A (p.Ser1882=)
|
rs886055807
|
0.00001
|
|
NM_004369.4(COL6A3):c.5646G>T (p.Ser1882=)
|
rs886055807
|
0.00001
|
|
NM_004369.4(COL6A3):c.5649C>A (p.Pro1883=)
|
rs886044430
|
0.00001
|
|
NM_004369.4(COL6A3):c.5666T>A (p.Val1889Glu)
|
rs1423516861
|
0.00001
|
|
NM_004369.4(COL6A3):c.5684C>T (p.Ser1895Leu)
|
rs760532694
|
0.00001
|
|
NM_004369.4(COL6A3):c.5718C>T (p.Tyr1906=)
|
rs200999503
|
0.00001
|
|
NM_004369.4(COL6A3):c.5748C>A (p.Asn1916Lys)
|
rs1159000538
|
0.00001
|
|
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu)
|
rs563800854
|
0.00001
|
|
NM_004369.4(COL6A3):c.5770G>A (p.Val1924Ile)
|
rs778162038
|
0.00001
|
|
NM_004369.4(COL6A3):c.5775C>T (p.Leu1925=)
|
rs764231408
|
0.00001
|
|
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met)
|
rs763172498
|
0.00001
|
|
NM_004369.4(COL6A3):c.5778G>A (p.Thr1926=)
|
rs555406717
|
0.00001
|
|
NM_004369.4(COL6A3):c.5811C>T (p.Phe1937=)
|
rs771317034
|
0.00001
|
|
NM_004369.4(COL6A3):c.5824C>G (p.Pro1942Ala)
|
rs1293700251
|
0.00001
|
|
NM_004369.4(COL6A3):c.5826G>A (p.Pro1942=)
|
rs113283088
|
0.00001
|
|
NM_004369.4(COL6A3):c.5832C>T (p.Ser1944=)
|
rs2077534219
|
0.00001
|
|
NM_004369.4(COL6A3):c.5838+7G>C
|
rs369931091
|
0.00001
|
|
NM_004369.4(COL6A3):c.5910C>T (p.Arg1970=)
|
rs727503884
|
0.00001
|
|
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)
|
rs771941724
|
0.00001
|
|
NM_004369.4(COL6A3):c.5993G>A (p.Arg1998Gln)
|
rs767725940
|
0.00001
|
|
NM_004369.4(COL6A3):c.6005A>T (p.Tyr2002Phe)
|
rs763429012
|
0.00001
|
|
NM_004369.4(COL6A3):c.6040G>T (p.Asp2014Tyr)
|
rs376548186
|
0.00001
|
|
NM_004369.4(COL6A3):c.6054G>A (p.Ala2018=)
|
rs367696163
|
0.00001
|
|
NM_004369.4(COL6A3):c.6064-4G>A
|
rs762819140
|
0.00001
|
|
NM_004369.4(COL6A3):c.6127C>T (p.Arg2043Cys)
|
rs1001689383
|
0.00001
|
|
NM_004369.4(COL6A3):c.6129C>T (p.Arg2043=)
|
rs576524993
|
0.00001
|
|
NM_004369.4(COL6A3):c.6156+16C>T
|
rs779455691
|
0.00001
|
|
NM_004369.4(COL6A3):c.6156+5G>A
|
rs112374074
|
0.00001
|
|
NM_004369.4(COL6A3):c.6159T>C (p.Gly2053=)
|
rs1172901266
|
0.00001
|
|
NM_004369.4(COL6A3):c.6174C>T (p.Asp2058=)
|
rs777351827
|
0.00001
|
|
NM_004369.4(COL6A3):c.6201G>C (p.Glu2067Asp)
|
rs765647487
|
0.00001
|
|
NM_004369.4(COL6A3):c.6211-9del
|
rs1280994015
|
0.00001
|
|
NM_004369.4(COL6A3):c.6242C>G (p.Thr2081Ser)
|
rs1364892747
|
0.00001
|
|
NM_004369.4(COL6A3):c.6255G>A (p.Gln2085=)
|
rs777097924
|
0.00001
|
|
NM_004369.4(COL6A3):c.6264G>A (p.Pro2088=)
|
rs1156803322
|
0.00001
|
|
NM_004369.4(COL6A3):c.6282+9T>C
|
rs1038994935
|
0.00001
|
|
NM_004369.4(COL6A3):c.6283-15C>T
|
rs757187481
|
0.00001
|
|
NM_004369.4(COL6A3):c.6291G>T (p.Arg2097=)
|
rs761280470
|
0.00001
|
|
NM_004369.4(COL6A3):c.6309+4T>G
|
rs1421626951
|
0.00001
|
|
NM_004369.4(COL6A3):c.630A>G (p.Val210=)
|
rs914512334
|
0.00001
|
|
NM_004369.4(COL6A3):c.6315A>C (p.Glu2105Asp)
|
rs1235042491
|
0.00001
|
|
NM_004369.4(COL6A3):c.6354+16C>T
|
rs1314468175
|
0.00001
|
|
NM_004369.4(COL6A3):c.6372T>C (p.Pro2124=)
|
rs894679602
|
0.00001
|
|
NM_004369.4(COL6A3):c.6469C>G (p.Pro2157Ala)
|
rs746104217
|
0.00001
|
|
NM_004369.4(COL6A3):c.6471+8T>C
|
rs747540355
|
0.00001
|
|
NM_004369.4(COL6A3):c.6471G>A (p.Pro2157=)
|
rs1349524156
|
0.00001
|
|
NM_004369.4(COL6A3):c.6472-13A>G
|
rs1156922421
|
0.00001
|
|
NM_004369.4(COL6A3):c.64A>G (p.Thr22Ala)
|
rs774784273
|
0.00001
|
|
NM_004369.4(COL6A3):c.6506C>G (p.Pro2169Arg)
|
rs532433812
|
0.00001
|
|
NM_004369.4(COL6A3):c.6519C>T (p.Thr2173=)
|
rs776493521
|
0.00001
|
|
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser)
|
rs766458058
|
0.00001
|
|
NM_004369.4(COL6A3):c.6545C>T (p.Pro2182Leu)
|
rs761812649
|
0.00001
|
|
NM_004369.4(COL6A3):c.6592-3C>T
|
rs760143724
|
0.00001
|
|
NM_004369.4(COL6A3):c.6592G>A (p.Gly2198Ser)
|
rs1257553370
|
0.00001
|
|
NM_004369.4(COL6A3):c.6604C>T (p.Arg2202Ter)
|
rs774115247
|
0.00001
|
|
NM_004369.4(COL6A3):c.6677C>T (p.Thr2226Ile)
|
rs376621780
|
0.00001
|
|
NM_004369.4(COL6A3):c.6691-3C>T
|
rs757686067
|
0.00001
|
|
NM_004369.4(COL6A3):c.6691-8T>G
|
rs1308697483
|
0.00001
|
|
NM_004369.4(COL6A3):c.6754-9C>G
|
rs886038542
|
0.00001
|
|
NM_004369.4(COL6A3):c.675G>C (p.Arg225Ser)
|
rs1330724943
|
0.00001
|
|
NM_004369.4(COL6A3):c.6766G>A (p.Ala2256Thr)
|
rs745877985
|
0.00001
|
|
NM_004369.4(COL6A3):c.6799G>A (p.Gly2267Ser)
|
rs749855513
|
0.00001
|
|
NM_004369.4(COL6A3):c.6833C>T (p.Pro2278Leu)
|
rs773775745
|
0.00001
|
|
NM_004369.4(COL6A3):c.6838C>A (p.Pro2280Thr)
|
rs779359869
|
0.00001
|
|
NM_004369.4(COL6A3):c.6853G>A (p.Gly2285Arg)
|
rs1268762655
|
0.00001
|
|
NM_004369.4(COL6A3):c.6859C>T (p.Arg2287Trp)
|
rs751115326
|
0.00001
|
|
NM_004369.4(COL6A3):c.6860G>A (p.Arg2287Gln)
|
rs777794580
|
0.00001
|
|
NM_004369.4(COL6A3):c.6861G>A (p.Arg2287=)
|
rs551512561
|
0.00001
|
|
NM_004369.4(COL6A3):c.6878C>T (p.Thr2293Met)
|
rs759657526
|
0.00001
|
|
NM_004369.4(COL6A3):c.6879+16G>A
|
rs915585400
|
0.00001
|
|
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala)
|
rs886043576
|
0.00001
|
|
NM_004369.4(COL6A3):c.6897C>T (p.Asp2299=)
|
rs764508785
|
0.00001
|
|
NM_004369.4(COL6A3):c.6920G>C (p.Arg2307Thr)
|
rs778845754
|
0.00001
|
|
NM_004369.4(COL6A3):c.6934G>A (p.Glu2312Lys)
|
rs1282952198
|
0.00001
|
|
NM_004369.4(COL6A3):c.6966+10C>G
|
rs995436631
|
0.00001
|
|
NM_004369.4(COL6A3):c.6973C>T (p.Pro2325Ser)
|
rs886044392
|
0.00001
|
|
NM_004369.4(COL6A3):c.6978T>C (p.Gly2326=)
|
rs755565292
|
0.00001
|
|
NM_004369.4(COL6A3):c.6979G>A (p.Glu2327Lys)
|
rs1435064229
|
0.00001
|
|
NM_004369.4(COL6A3):c.7029+3A>G
|
rs886044464
|
0.00001
|
|
NM_004369.4(COL6A3):c.7031G>A (p.Gly2344Glu)
|
rs367725413
|
0.00001
|
|
NM_004369.4(COL6A3):c.7038G>A (p.Ser2346=)
|
rs773164702
|
0.00001
|
|
NM_004369.4(COL6A3):c.704T>C (p.Ile235Thr)
|
rs886043065
|
0.00001
|
|
NM_004369.4(COL6A3):c.709+4A>G
|
rs1458579992
|
0.00001
|
|
NM_004369.4(COL6A3):c.709+8C>T
|
rs779535244
|
0.00001
|
|
NM_004369.4(COL6A3):c.7123G>A (p.Asp2375Asn)
|
rs778371231
|
0.00001
|
|
NM_004369.4(COL6A3):c.7158A>G (p.Lys2386=)
|
rs376714139
|
0.00001
|
|
NM_004369.4(COL6A3):c.7188C>T (p.Cys2396=)
|
rs1383762763
|
0.00001
|
|
NM_004369.4(COL6A3):c.721G>A (p.Ala241Thr)
|
rs1559271365
|
0.00001
|
|
NM_004369.4(COL6A3):c.7224C>G (p.Asp2408Glu)
|
rs377084627
|
0.00001
|
|
NM_004369.4(COL6A3):c.7255G>A (p.Gly2419Ser)
|
rs749446863
|
0.00001
|
|
NM_004369.4(COL6A3):c.7265G>A (p.Arg2422Gln)
|
rs748029252
|
0.00001
|
|
NM_004369.4(COL6A3):c.7275C>T (p.Val2425=)
|
rs749075993
|
0.00001
|
|
NM_004369.4(COL6A3):c.7282A>G (p.Ile2428Val)
|
rs1462967965
|
0.00001
|
|
NM_004369.4(COL6A3):c.7290T>G (p.Asn2430Lys)
|
rs900113844
|
0.00001
|
|
NM_004369.4(COL6A3):c.7308G>A (p.Glu2436=)
|
rs750552221
|
0.00001
|
|
NM_004369.4(COL6A3):c.7311C>G (p.Ser2437Arg)
|
rs781087176
|
0.00001
|
|
NM_004369.4(COL6A3):c.7322G>A (p.Arg2441Gln)
|
rs753090057
|
0.00001
|
|
NM_004369.4(COL6A3):c.7364C>A (p.Thr2455Asn)
|
rs1269973980
|
0.00001
|
|
NM_004369.4(COL6A3):c.7367C>T (p.Thr2456Met)
|
rs747074064
|
0.00001
|
|
NM_004369.4(COL6A3):c.7368G>A (p.Thr2456=)
|
rs778474394
|
0.00001
|
|
NM_004369.4(COL6A3):c.7391A>G (p.Lys2464Arg)
|
rs1445471566
|
0.00001
|
|
NM_004369.4(COL6A3):c.7477T>C (p.Phe2493Leu)
|
rs756868798
|
0.00001
|
|
NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His)
|
rs541928674
|
0.00001
|
|
NM_004369.4(COL6A3):c.7514G>T (p.Gly2505Val)
|
rs794727591
|
0.00001
|
|
NM_004369.4(COL6A3):c.7575G>A (p.Gln2525=)
|
rs752232293
|
0.00001
|
|
NM_004369.4(COL6A3):c.7612A>G (p.Ile2538Val)
|
rs770214397
|
0.00001
|
|
NM_004369.4(COL6A3):c.7668+18G>A
|
rs1234167823
|
0.00001
|
|
NM_004369.4(COL6A3):c.7676A>G (p.Asn2559Ser)
|
rs1009561726
|
0.00001
|
|
NM_004369.4(COL6A3):c.7691A>T (p.His2564Leu)
|
rs886055804
|
0.00001
|
|
NM_004369.4(COL6A3):c.76C>T (p.Gln26Ter)
|
rs763187844
|
0.00001
|
|
NM_004369.4(COL6A3):c.7713G>A (p.Gly2571=)
|
rs756140209
|
0.00001
|
|
NM_004369.4(COL6A3):c.7766-14A>C
|
rs745793481
|
0.00001
|
|
NM_004369.4(COL6A3):c.779T>C (p.Val260Ala)
|
rs767993846
|
0.00001
|
|
NM_004369.4(COL6A3):c.7833G>A (p.Ala2611=)
|
rs535306425
|
0.00001
|
|
NM_004369.4(COL6A3):c.7855G>A (p.Asp2619Asn)
|
rs756654349
|
0.00001
|
|
NM_004369.4(COL6A3):c.7878C>T (p.Ser2626=)
|
rs145136426
|
0.00001
|
|
NM_004369.4(COL6A3):c.7976A>G (p.Gln2659Arg)
|
rs886044041
|
0.00001
|
|
NM_004369.4(COL6A3):c.7984G>A (p.Ala2662Thr)
|
rs749100905
|
0.00001
|
|
NM_004369.4(COL6A3):c.802C>T (p.Leu268Phe)
|
rs572430889
|
0.00001
|
|
NM_004369.4(COL6A3):c.807T>C (p.Leu269=)
|
rs776357610
|
0.00001
|
|
NM_004369.4(COL6A3):c.810G>T (p.Glu270Asp)
|
rs964222724
|
0.00001
|
|
NM_004369.4(COL6A3):c.8122C>G (p.Gln2708Glu)
|
rs778195223
|
0.00001
|
|
NM_004369.4(COL6A3):c.8147G>T (p.Gly2716Val)
|
rs1311630536
|
0.00001
|
|
NM_004369.4(COL6A3):c.8155A>G (p.Ile2719Val)
|
rs762902561
|
0.00001
|
|
NM_004369.4(COL6A3):c.8158G>A (p.Glu2720Lys)
|
rs368129741
|
0.00001
|
|
NM_004369.4(COL6A3):c.8209A>C (p.Lys2737Gln)
|
rs111764507
|
0.00001
|
|
NM_004369.4(COL6A3):c.8212A>T (p.Ile2738Phe)
|
rs141344389
|
0.00001
|
|
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=)
|
rs769124771
|
0.00001
|
|
NM_004369.4(COL6A3):c.8263G>A (p.Ala2755Thr)
|
rs775790310
|
0.00001
|
|
NM_004369.4(COL6A3):c.8290T>G (p.Cys2764Gly)
|
rs779036168
|
0.00001
|
|
NM_004369.4(COL6A3):c.8310G>A (p.Val2770=)
|
rs766217603
|
0.00001
|
|
NM_004369.4(COL6A3):c.8337C>T (p.Asn2779=)
|
rs1338421880
|
0.00001
|
|
NM_004369.4(COL6A3):c.8375A>G (p.Asp2792Gly)
|
rs886044347
|
0.00001
|
|
NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=)
|
rs772967228
|
0.00001
|
|
NM_004369.4(COL6A3):c.837C>T (p.Ile279=)
|
rs772888162
|
0.00001
|
|
NM_004369.4(COL6A3):c.8385C>T (p.Phe2795=)
|
rs201460305
|
0.00001
|
|
NM_004369.4(COL6A3):c.8406C>T (p.Thr2802=)
|
rs572018781
|
0.00001
|
|
NM_004369.4(COL6A3):c.8416G>A (p.Glu2806Lys)
|
rs775200499
|
0.00001
|
|
NM_004369.4(COL6A3):c.8422C>T (p.Pro2808Ser)
|
rs1335582737
|
0.00001
|
|
NM_004369.4(COL6A3):c.8431C>T (p.Arg2811Cys)
|
rs371361651
|
0.00001
|
|
NM_004369.4(COL6A3):c.8437G>A (p.Gly2813Arg)
|
rs146131332
|
0.00001
|
|
NM_004369.4(COL6A3):c.8465-20T>C
|
rs746788651
|
0.00001
|
|
NM_004369.4(COL6A3):c.8478T>C (p.Phe2826=)
|
rs748250269
|
0.00001
|
|
NM_004369.4(COL6A3):c.8498G>A (p.Arg2833Lys)
|
rs755510736
|
0.00001
|
|
NM_004369.4(COL6A3):c.8522G>A (p.Gly2841Glu)
|
rs1296360526
|
0.00001
|
|
NM_004369.4(COL6A3):c.8568-9T>C
|
rs1369507012
|
0.00001
|
|
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile)
|
rs371745862
|
0.00001
|
|
NM_004369.4(COL6A3):c.8615C>T (p.Thr2872Met)
|
rs759009226
|
0.00001
|
|
NM_004369.4(COL6A3):c.8622G>A (p.Thr2874=)
|
rs766330730
|
0.00001
|
|
NM_004369.4(COL6A3):c.8634T>C (p.Thr2878=)
|
rs768887961
|
0.00001
|
|
NM_004369.4(COL6A3):c.8645C>T (p.Pro2882Leu)
|
rs112178393
|
0.00001
|
|
NM_004369.4(COL6A3):c.8743G>A (p.Ala2915Thr)
|
rs377528704
|
0.00001
|
|
NM_004369.4(COL6A3):c.8807T>C (p.Val2936Ala)
|
rs1218467207
|
0.00001
|
|
NM_004369.4(COL6A3):c.8861C>T (p.Pro2954Leu)
|
rs766551222
|
0.00001
|
|
NM_004369.4(COL6A3):c.8895C>A (p.Thr2965=)
|
rs114008087
|
0.00001
|
|
NM_004369.4(COL6A3):c.8903A>C (p.Glu2968Ala)
|
rs758363294
|
0.00001
|
|
NM_004369.4(COL6A3):c.8907C>T (p.Val2969=)
|
rs201605617
|
0.00001
|
|
NM_004369.4(COL6A3):c.8924C>T (p.Ala2975Val)
|
rs557120711
|
0.00001
|
|
NM_004369.4(COL6A3):c.8966-6T>C
|
rs756239147
|
0.00001
|
|
NM_004369.4(COL6A3):c.8977C>T (p.Arg2993Cys)
|
rs148318789
|
0.00001
|
|
NM_004369.4(COL6A3):c.9005A>G (p.Glu3002Gly)
|
rs747642083
|
0.00001
|
|
NM_004369.4(COL6A3):c.9012C>T (p.Ser3004=)
|
rs199519571
|
0.00001
|
|
NM_004369.4(COL6A3):c.9032G>T (p.Arg3011Met)
|
rs757374995
|
0.00001
|
|
NM_004369.4(COL6A3):c.9043C>T (p.Pro3015Ser)
|
rs529079748
|
0.00001
|
|
NM_004369.4(COL6A3):c.9070G>A (p.Val3024Ile)
|
rs769756403
|
0.00001
|
|
NM_004369.4(COL6A3):c.907G>T (p.Ala303Ser)
|
rs1162064854
|
0.00001
|
|
NM_004369.4(COL6A3):c.9082C>T (p.His3028Tyr)
|
rs745651769
|
0.00001
|
|
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg)
|
rs1370564126
|
0.00001
|
|
NM_004369.4(COL6A3):c.9122C>T (p.Thr3041Met)
|
rs754218170
|
0.00001
|
|
NM_004369.4(COL6A3):c.9180C>G (p.Cys3060Trp)
|
rs376939353
|
0.00001
|
|
NM_004369.4(COL6A3):c.9209A>G (p.Tyr3070Cys)
|
rs368568929
|
0.00001
|
|
NM_004369.4(COL6A3):c.920G>A (p.Gly307Asp)
|
rs149412478
|
0.00001
|
|
NM_004369.4(COL6A3):c.9229+4A>C
|
rs749872311
|
0.00001
|
|
NM_004369.4(COL6A3):c.922G>A (p.Ala308Thr)
|
rs779867515
|
0.00001
|
|
NM_004369.4(COL6A3):c.9248C>A (p.Pro3083His)
|
rs760496428
|
0.00001
|
|
NM_004369.4(COL6A3):c.9250C>T (p.Pro3084Ser)
|
rs1468004640
|
0.00001
|
|
NM_004369.4(COL6A3):c.9290T>C (p.Leu3097Pro)
|
rs886042363
|
0.00001
|
|
NM_004369.4(COL6A3):c.9316C>T (p.Leu3106Phe)
|
rs112455407
|
0.00001
|
|
NM_004369.4(COL6A3):c.9328+8G>T
|
rs770383420
|
0.00001
|
|
NM_004369.4(COL6A3):c.9329-4A>T
|
rs199800564
|
0.00001
|
|
NM_004369.4(COL6A3):c.9352G>A (p.Glu3118Lys)
|
rs755613566
|
0.00001
|
|
NM_004369.4(COL6A3):c.9374T>C (p.Ile3125Thr)
|
rs1385929254
|
0.00001
|
|
NM_004369.4(COL6A3):c.9398A>G (p.Asn3133Ser)
|
rs1699901008
|
0.00001
|
|
NM_004369.4(COL6A3):c.9417A>G (p.Arg3139=)
|
rs1215789317
|
0.00001
|
|
NM_004369.4(COL6A3):c.9451A>G (p.Lys3151Glu)
|
rs371468515
|
0.00001
|
|
NM_004369.4(COL6A3):c.9457G>C (p.Gly3153Arg)
|
rs769392747
|
0.00001
|
|
NM_004369.4(COL6A3):c.9459A>G (p.Gly3153=)
|
rs886044034
|
0.00001
|
|
NM_004369.4(COL6A3):c.9489T>A (p.Ala3163=)
|
rs367728719
|
0.00001
|
|
NM_004369.4(COL6A3):c.976C>G (p.Leu326Val)
|
rs773786663
|
0.00001
|
|
NM_004369.4(COL6A3):c.984C>T (p.Phe328=)
|
rs768609958
|
0.00001
|
|
NM_004369.4(COL6A3):c.98A>G (p.Lys33Arg)
|
rs781141962
|
0.00001
|
|
NM_004370.6(COL12A1):c.1006C>T (p.Pro336Ser)
|
rs375542964
|
0.00001
|
|
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu)
|
rs747183950
|
0.00001
|
|
NM_004370.6(COL12A1):c.1018T>C (p.Leu340=)
|
rs578252411
|
0.00001
|
|
NM_004370.6(COL12A1):c.1029G>A (p.Met343Ile)
|
rs780955667
|
0.00001
|
|
NM_004370.6(COL12A1):c.1032A>G (p.Glu344=)
|
rs371748094
|
0.00001
|
|
NM_004370.6(COL12A1):c.103A>G (p.Ile35Val)
|
rs780247302
|
0.00001
|
|
NM_004370.6(COL12A1):c.1065T>A (p.Asn355Lys)
|
rs1769480073
|
0.00001
|
|
NM_004370.6(COL12A1):c.1083G>A (p.Val361=)
|
rs373691118
|
0.00001
|
|
NM_004370.6(COL12A1):c.1115C>T (p.Thr372Ile)
|
rs922525519
|
0.00001
|
|
NM_004370.6(COL12A1):c.1133A>G (p.His378Arg)
|
rs1210901422
|
0.00001
|
|
NM_004370.6(COL12A1):c.1135G>C (p.Ala379Pro)
|
rs779083996
|
0.00001
|
|
NM_004370.6(COL12A1):c.113A>C (p.Glu38Ala)
|
rs200828190
|
0.00001
|
|
NM_004370.6(COL12A1):c.1148G>C (p.Gly383Ala)
|
rs1310849098
|
0.00001
|
|
NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser)
|
rs370952607
|
0.00001
|
|
NM_004370.6(COL12A1):c.1174C>T (p.Arg392Cys)
|
rs970722197
|
0.00001
|
|
NM_004370.6(COL12A1):c.1176C>T (p.Arg392=)
|
rs751787368
|
0.00001
|
|
NM_004370.6(COL12A1):c.1177G>A (p.Asp393Asn)
|
rs369309158
|
0.00001
|
|
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala)
|
rs201343487
|
0.00001
|
|
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr)
|
rs377285294
|
0.00001
|
|
NM_004370.6(COL12A1):c.1239T>C (p.Ser413=)
|
rs1769468260
|
0.00001
|
|
NM_004370.6(COL12A1):c.1289-3C>T
|
rs375570066
|
0.00001
|
|
NM_004370.6(COL12A1):c.1300G>A (p.Gly434Ser)
|
rs771816024
|
0.00001
|
|
NM_004370.6(COL12A1):c.1301G>A (p.Gly434Asp)
|
rs759184281
|
0.00001
|
|
NM_004370.6(COL12A1):c.1318G>A (p.Asp440Asn)
|
rs563331592
|
0.00001
|
|
NM_004370.6(COL12A1):c.1344C>T (p.Ser448=)
|
rs1004269418
|
0.00001
|
|
NM_004370.6(COL12A1):c.1365C>T (p.Asn455=)
|
rs192004528
|
0.00001
|
|
NM_004370.6(COL12A1):c.1375G>A (p.Val459Ile)
|
rs368199250
|
0.00001
|
|
NM_004370.6(COL12A1):c.1416T>C (p.Ile472=)
|
rs1242358815
|
0.00001
|
|
NM_004370.6(COL12A1):c.1433A>T (p.Gln478Leu)
|
rs770461984
|
0.00001
|
|
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His)
|
rs762385473
|
0.00001
|
|
NM_004370.6(COL12A1):c.1445T>G (p.Val482Gly)
|
rs1445434863
|
0.00001
|
|
NM_004370.6(COL12A1):c.1452C>T (p.Tyr484=)
|
rs769824937
|
0.00001
|
|
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp)
|
rs371505180
|
0.00001
|
|
NM_004370.6(COL12A1):c.1457G>A (p.Arg486Gln)
|
rs768545712
|
0.00001
|
|
NM_004370.6(COL12A1):c.1492A>G (p.Thr498Ala)
|
rs753897086
|
0.00001
|
|
NM_004370.6(COL12A1):c.1564G>A (p.Ala522Thr)
|
rs1292052246
|
0.00001
|
|
NM_004370.6(COL12A1):c.1575T>C (p.Tyr525=)
|
rs748722008
|
0.00001
|
|
NM_004370.6(COL12A1):c.1616G>A (p.Ser539Asn)
|
rs1169546055
|
0.00001
|
|
NM_004370.6(COL12A1):c.1620T>A (p.Asn540Lys)
|
rs1440470491
|
0.00001
|
|
NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val)
|
rs538463802
|
0.00001
|
|
NM_004370.6(COL12A1):c.1678C>A (p.Pro560Thr)
|
rs775466928
|
0.00001
|
|
NM_004370.6(COL12A1):c.1738G>A (p.Val580Ile)
|
rs758637945
|
0.00001
|
|
NM_004370.6(COL12A1):c.1761T>C (p.Ile587=)
|
rs1769411353
|
0.00001
|
|
NM_004370.6(COL12A1):c.1772C>G (p.Pro591Arg)
|
rs752633980
|
0.00001
|
|
NM_004370.6(COL12A1):c.177G>A (p.Val59=)
|
rs772158281
|
0.00001
|
|
NM_004370.6(COL12A1):c.1782C>T (p.Thr594=)
|
rs552726593
|
0.00001
|
|
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn)
|
rs370544100
|
0.00001
|
|
NM_004370.6(COL12A1):c.1831G>C (p.Glu611Gln)
|
rs1478514196
|
0.00001
|
|
NM_004370.6(COL12A1):c.1841A>C (p.Gln614Pro)
|
rs1202194413
|
0.00001
|
|
NM_004370.6(COL12A1):c.18C>T (p.Pro6=)
|
rs1427431369
|
0.00001
|
|
NM_004370.6(COL12A1):c.191-12T>C
|
rs772991479
|
0.00001
|
|
NM_004370.6(COL12A1):c.1934C>T (p.Ser645Phe)
|
rs1031869609
|
0.00001
|
|
NM_004370.6(COL12A1):c.1997A>G (p.Tyr666Cys)
|
rs760872362
|
0.00001
|
|
NM_004370.6(COL12A1):c.200C>G (p.Thr67Ser)
|
rs1436987187
|
0.00001
|
|
NM_004370.6(COL12A1):c.2032G>A (p.Val678Met)
|
rs749609293
|
0.00001
|
|
NM_004370.6(COL12A1):c.2070C>T (p.Ser690=)
|
rs779972390
|
0.00001
|
|
NM_004370.6(COL12A1):c.2083A>G (p.Thr695Ala)
|
rs758201181
|
0.00001
|
|
NM_004370.6(COL12A1):c.2094G>C (p.Leu698Phe)
|
rs756368336
|
0.00001
|
|
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)
|
rs1013873051
|
0.00001
|
|
NM_004370.6(COL12A1):c.2109G>A (p.Ala703=)
|
rs759595683
|
0.00001
|
|
NM_004370.6(COL12A1):c.214C>A (p.Leu72Ile)
|
rs1318884120
|
0.00001
|
|
NM_004370.6(COL12A1):c.2164+18C>A
|
rs183023584
|
0.00001
|
|
NM_004370.6(COL12A1):c.2180G>A (p.Arg727Gln)
|
rs775023310
|
0.00001
|
|
NM_004370.6(COL12A1):c.2196A>G (p.Thr732=)
|
rs770644269
|
0.00001
|
|
NM_004370.6(COL12A1):c.224G>A (p.Ser75Asn)
|
rs1198986280
|
0.00001
|
|
NM_004370.6(COL12A1):c.2256A>G (p.Arg752=)
|
rs370677855
|
0.00001
|
|
NM_004370.6(COL12A1):c.2288G>A (p.Gly763Glu)
|
rs770965835
|
0.00001
|
|
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys)
|
rs1341266694
|
0.00001
|
|
NM_004370.6(COL12A1):c.2334A>G (p.Thr778=)
|
rs1582185053
|
0.00001
|
|
NM_004370.6(COL12A1):c.2340G>T (p.Glu780Asp)
|
rs931765391
|
0.00001
|
|
NM_004370.6(COL12A1):c.2373T>C (p.Ser791=)
|
rs752359605
|
0.00001
|
|
NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu)
|
rs772979149
|
0.00001
|
|
NM_004370.6(COL12A1):c.2410T>G (p.Leu804Val)
|
rs769631929
|
0.00001
|
|
NM_004370.6(COL12A1):c.244T>G (p.Ser82Ala)
|
rs941358850
|
0.00001
|
|
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met)
|
rs1369556861
|
0.00001
|
|
NM_004370.6(COL12A1):c.2478G>A (p.Thr826=)
|
rs781557444
|
0.00001
|
|
NM_004370.6(COL12A1):c.250C>G (p.Leu84Val)
|
rs770970810
|
0.00001
|
|
NM_004370.6(COL12A1):c.2513C>T (p.Pro838Leu)
|
rs368537733
|
0.00001
|
|
NM_004370.6(COL12A1):c.2522T>A (p.Val841Glu)
|
rs375671490
|
0.00001
|
|
NM_004370.6(COL12A1):c.2577C>T (p.Val859=)
|
rs902436577
|
0.00001
|
|
NM_004370.6(COL12A1):c.2581G>A (p.Val861Met)
|
rs780466316
|
0.00001
|
|
NM_004370.6(COL12A1):c.2592T>G (p.Asp864Glu)
|
rs539562135
|
0.00001
|
|
NM_004370.6(COL12A1):c.2632C>T (p.Gln878Ter)
|
rs765303183
|
0.00001
|
|
NM_004370.6(COL12A1):c.2638G>A (p.Ala880Thr)
|
rs568432319
|
0.00001
|
|
NM_004370.6(COL12A1):c.2654C>G (p.Ala885Gly)
|
rs371518967
|
0.00001
|
|
NM_004370.6(COL12A1):c.2664G>A (p.Ala888=)
|
rs756052823
|
0.00001
|
|
NM_004370.6(COL12A1):c.2680G>A (p.Ala894Thr)
|
rs1415214085
|
0.00001
|
|
NM_004370.6(COL12A1):c.2739T>C (p.Thr913=)
|
rs1420771479
|
0.00001
|
|
NM_004370.6(COL12A1):c.2744A>T (p.Asp915Val)
|
rs774904567
|
0.00001
|
|
NM_004370.6(COL12A1):c.2770T>C (p.Tyr924His)
|
rs1768261055
|
0.00001
|
|
NM_004370.6(COL12A1):c.2787A>T (p.Pro929=)
|
rs780559642
|
0.00001
|
|
NM_004370.6(COL12A1):c.2823A>G (p.Ser941=)
|
rs760141819
|
0.00001
|
|
NM_004370.6(COL12A1):c.2835T>C (p.Asp945=)
|
rs777357134
|
0.00001
|
|
NM_004370.6(COL12A1):c.2890A>C (p.Asn964His)
|
rs370188326
|
0.00001
|
|
NM_004370.6(COL12A1):c.289T>C (p.Tyr97His)
|
rs1477957297
|
0.00001
|
|
NM_004370.6(COL12A1):c.2933C>G (p.Thr978Ser)
|
rs944768236
|
0.00001
|
|
NM_004370.6(COL12A1):c.2983+5G>A
|
rs1064794720
|
0.00001
|
|
NM_004370.6(COL12A1):c.2984-3C>T
|
rs1394199507
|
0.00001
|
|
NM_004370.6(COL12A1):c.3009A>G (p.Lys1003=)
|
rs910433493
|
0.00001
|
|
NM_004370.6(COL12A1):c.3044C>A (p.Thr1015Lys)
|
rs774087407
|
0.00001
|
|
NM_004370.6(COL12A1):c.3079C>T (p.Arg1027Cys)
|
rs760621245
|
0.00001
|
|
NM_004370.6(COL12A1):c.3092G>A (p.Arg1031His)
|
rs752304678
|
0.00001
|
|
NM_004370.6(COL12A1):c.3130C>G (p.Pro1044Ala)
|
rs200490883
|
0.00001
|
|
NM_004370.6(COL12A1):c.3149C>T (p.Thr1050Ile)
|
rs1376226675
|
0.00001
|
|
NM_004370.6(COL12A1):c.3176C>A (p.Thr1059Asn)
|
rs778135297
|
0.00001
|
|
NM_004370.6(COL12A1):c.32C>T (p.Ala11Val)
|
rs751589202
|
0.00001
|
|
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter)
|
rs1329022055
|
0.00001
|
|
NM_004370.6(COL12A1):c.334+8C>T
|
rs1359112911
|
0.00001
|
|
NM_004370.6(COL12A1):c.3341T>C (p.Val1114Ala)
|
rs1767720355
|
0.00001
|
|
NM_004370.6(COL12A1):c.3346G>T (p.Gly1116Cys)
|
rs1337121359
|
0.00001
|
|
NM_004370.6(COL12A1):c.335-16T>C
|
rs1286151975
|
0.00001
|
|
NM_004370.6(COL12A1):c.3374G>A (p.Gly1125Glu)
|
rs1029379585
|
0.00001
|
|
NM_004370.6(COL12A1):c.3396G>A (p.Glu1132=)
|
rs1420617553
|
0.00001
|
|
NM_004370.6(COL12A1):c.3443+10A>T
|
rs1217280037
|
0.00001
|
|
NM_004370.6(COL12A1):c.3443+15C>T
|
rs762336310
|
0.00001
|
|
NM_004370.6(COL12A1):c.3444-8C>T
|
rs765303217
|
0.00001
|
|
NM_004370.6(COL12A1):c.344G>A (p.Gly115Asp)
|
rs749832842
|
0.00001
|
|
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val)
|
rs770692332
|
0.00001
|
|
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile)
|
rs201542066
|
0.00001
|
|
NM_004370.6(COL12A1):c.350C>T (p.Ser117Leu)
|
rs753747530
|
0.00001
|
|
NM_004370.6(COL12A1):c.3527C>A (p.Thr1176Asn)
|
rs1003693918
|
0.00001
|
|
NM_004370.6(COL12A1):c.3535G>A (p.Asp1179Asn)
|
rs370641424
|
0.00001
|
|
NM_004370.6(COL12A1):c.3566G>A (p.Gly1189Glu)
|
rs990441297
|
0.00001
|
|
NM_004370.6(COL12A1):c.3592G>A (p.Ala1198Thr)
|
rs752018748
|
0.00001
|
|
NM_004370.6(COL12A1):c.3634C>T (p.Arg1212Trp)
|
rs746929943
|
0.00001
|
|
NM_004370.6(COL12A1):c.363G>A (p.Val121=)
|
rs559388395
|
0.00001
|
|
NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys)
|
rs748277540
|
0.00001
|
|
NM_004370.6(COL12A1):c.3676G>A (p.Val1226Met)
|
rs1305647848
|
0.00001
|
|
NM_004370.6(COL12A1):c.3729T>C (p.Tyr1243=)
|
rs374534617
|
0.00001
|
|
NM_004370.6(COL12A1):c.3798G>C (p.Val1266=)
|
rs1210652893
|
0.00001
|
|
NM_004370.6(COL12A1):c.3801A>G (p.Ala1267=)
|
rs770806561
|
0.00001
|
|
NM_004370.6(COL12A1):c.3810G>A (p.Pro1270=)
|
rs370675782
|
0.00001
|
|
NM_004370.6(COL12A1):c.383C>T (p.Thr128Ile)
|
rs751811370
|
0.00001
|
|
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys)
|
rs764448554
|
0.00001
|
|
NM_004370.6(COL12A1):c.3872G>A (p.Arg1291Lys)
|
rs1194355123
|
0.00001
|
|
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter)
|
rs1304140510
|
0.00001
|
|
NM_004370.6(COL12A1):c.3905A>G (p.Lys1302Arg)
|
rs1179021269
|
0.00001
|
|
NM_004370.6(COL12A1):c.3921T>C (p.Ile1307=)
|
rs531318332
|
0.00001
|
|
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val)
|
rs759722280
|
0.00001
|
|
NM_004370.6(COL12A1):c.3974A>T (p.Asp1325Val)
|
rs371419803
|
0.00001
|
|
NM_004370.6(COL12A1):c.4010A>G (p.Asn1337Ser)
|
rs1187079906
|
0.00001
|
|
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe)
|
rs1346687171
|
0.00001
|
|
NM_004370.6(COL12A1):c.4023C>T (p.Val1341=)
|
rs751690563
|
0.00001
|
|
NM_004370.6(COL12A1):c.403G>T (p.Val135Phe)
|
rs377551270
|
0.00001
|
|
NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly)
|
rs1295465247
|
0.00001
|
|
NM_004370.6(COL12A1):c.4098G>A (p.Arg1366=)
|
rs771642899
|
0.00001
|
|
NM_004370.6(COL12A1):c.4143T>C (p.Gly1381=)
|
rs1171598389
|
0.00001
|
|
NM_004370.6(COL12A1):c.4148G>A (p.Gly1383Asp)
|
rs1183950908
|
0.00001
|
|
NM_004370.6(COL12A1):c.417T>A (p.Thr139=)
|
rs777652114
|
0.00001
|
|
NM_004370.6(COL12A1):c.424G>A (p.Val142Ile)
|
rs772461470
|
0.00001
|
|
NM_004370.6(COL12A1):c.4286A>T (p.Glu1429Val)
|
rs1056626609
|
0.00001
|
|
NM_004370.6(COL12A1):c.4288-6C>T
|
rs768371908
|
0.00001
|
|
NM_004370.6(COL12A1):c.42G>A (p.Ala14=)
|
rs758961396
|
0.00001
|
|
NM_004370.6(COL12A1):c.4317A>G (p.Thr1439=)
|
rs749367997
|
0.00001
|
|
NM_004370.6(COL12A1):c.432C>T (p.Leu144=)
|
rs528524927
|
0.00001
|
|
NM_004370.6(COL12A1):c.4359T>C (p.Asn1453=)
|
rs749957138
|
0.00001
|
|
NM_004370.6(COL12A1):c.4371G>T (p.Val1457=)
|
rs761741355
|
0.00001
|
|
NM_004370.6(COL12A1):c.4417+15_4417+19del
|
rs768514093
|
0.00001
|
|
NM_004370.6(COL12A1):c.4418-1G>A
|
rs984784417
|
0.00001
|
|
NM_004370.6(COL12A1):c.441C>T (p.Gly147=)
|
rs370007721
|
0.00001
|
|
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser)
|
rs750010185
|
0.00001
|
|
NM_004370.6(COL12A1):c.4425G>A (p.Val1475=)
|
rs372904002
|
0.00001
|
|
NM_004370.6(COL12A1):c.4428T>C (p.Pro1476=)
|
rs1554182178
|
0.00001
|
|
NM_004370.6(COL12A1):c.4457G>T (p.Gly1486Val)
|
rs1353013260
|
0.00001
|
|
NM_004370.6(COL12A1):c.4459C>T (p.Pro1487Ser)
|
rs1220345277
|
0.00001
|
|
NM_004370.6(COL12A1):c.4476G>A (p.Val1492=)
|
rs1267756642
|
0.00001
|
|
NM_004370.6(COL12A1):c.44C>T (p.Ala15Val)
|
rs1267769116
|
0.00001
|
|
NM_004370.6(COL12A1):c.4531A>G (p.Lys1511Glu)
|
rs763614780
|
0.00001
|
|
NM_004370.6(COL12A1):c.4556A>T (p.Lys1519Ile)
|
rs767232468
|
0.00001
|
|
NM_004370.6(COL12A1):c.4560+10G>C
|
rs372490462
|
0.00001
|
|
NM_004370.6(COL12A1):c.4561-15C>T
|
rs777154641
|
0.00001
|
|
NM_004370.6(COL12A1):c.4561-4G>A
|
rs148650016
|
0.00001
|
|
NM_004370.6(COL12A1):c.4627G>A (p.Val1543Ile)
|
rs771220392
|
0.00001
|
|
NM_004370.6(COL12A1):c.4651G>A (p.Asp1551Asn)
|
rs76453279
|
0.00001
|
|
NM_004370.6(COL12A1):c.4653C>A (p.Asp1551Glu)
|
rs74383804
|
0.00001
|
|
NM_004370.6(COL12A1):c.4657A>T (p.Thr1553Ser)
|
rs1044813586
|
0.00001
|
|
NM_004370.6(COL12A1):c.4661G>A (p.Ser1554Asn)
|
rs780006734
|
0.00001
|
|
NM_004370.6(COL12A1):c.4690+7T>C
|
rs1364868781
|
0.00001
|
|
NM_004370.6(COL12A1):c.4690+8A>T
|
rs760044445
|
0.00001
|
|
NM_004370.6(COL12A1):c.4698A>G (p.Leu1566=)
|
rs1429126907
|
0.00001
|
|
NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu)
|
rs1246397590
|
0.00001
|
|
NM_004370.6(COL12A1):c.4737C>T (p.His1579=)
|
rs765450196
|
0.00001
|
|
NM_004370.6(COL12A1):c.4759G>C (p.Glu1587Gln)
|
rs775117257
|
0.00001
|
|
NM_004370.6(COL12A1):c.4773A>G (p.Gly1591=)
|
rs1464793469
|
0.00001
|
|
NM_004370.6(COL12A1):c.4788T>C (p.Tyr1596=)
|
rs749072028
|
0.00001
|
|
NM_004370.6(COL12A1):c.4789A>G (p.Ile1597Val)
|
rs1172593477
|
0.00001
|
|
NM_004370.6(COL12A1):c.4796G>A (p.Arg1599Gln)
|
rs781463654
|
0.00001
|
|
NM_004370.6(COL12A1):c.4797A>T (p.Arg1599=)
|
rs1025841228
|
0.00001
|
|
NM_004370.6(COL12A1):c.4801A>G (p.Lys1601Glu)
|
rs751657895
|
0.00001
|
|
NM_004370.6(COL12A1):c.4827+16T>C
|
rs535965773
|
0.00001
|
|
NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu)
|
rs754277446
|
0.00001
|
|
NM_004370.6(COL12A1):c.4885T>C (p.Leu1629=)
|
rs767188736
|
0.00001
|
|
NM_004370.6(COL12A1):c.4893A>G (p.Thr1631=)
|
rs1219807352
|
0.00001
|
|
NM_004370.6(COL12A1):c.4899C>T (p.Ser1633=)
|
rs762832336
|
0.00001
|
|
NM_004370.6(COL12A1):c.4957+10G>C
|
rs1172874533
|
0.00001
|
|
NM_004370.6(COL12A1):c.4991C>A (p.Thr1664Asn)
|
rs754587593
|
0.00001
|
|
NM_004370.6(COL12A1):c.5004A>G (p.Ser1668=)
|
rs1301829570
|
0.00001
|
|
NM_004370.6(COL12A1):c.5034A>C (p.Gly1678=)
|
rs757968333
|
0.00001
|
|
NM_004370.6(COL12A1):c.5098-14C>T
|
rs370402417
|
0.00001
|
|
NM_004370.6(COL12A1):c.5098-5C>T
|
rs766762283
|
0.00001
|
|
NM_004370.6(COL12A1):c.511G>C (p.Asp171His)
|
rs748076280
|
0.00001
|
|
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys)
|
rs778415707
|
0.00001
|
|
NM_004370.6(COL12A1):c.515T>C (p.Ile172Thr)
|
rs780886772
|
0.00001
|
|
NM_004370.6(COL12A1):c.5174C>T (p.Thr1725Ile)
|
rs370108747
|
0.00001
|
|
NM_004370.6(COL12A1):c.5184T>C (p.Tyr1728=)
|
rs767349975
|
0.00001
|
|
NM_004370.6(COL12A1):c.5185C>T (p.Pro1729Ser)
|
rs1329724602
|
0.00001
|
|
NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=)
|
rs763294691
|
0.00001
|
|
NM_004370.6(COL12A1):c.5202T>A (p.Ser1734Arg)
|
rs377226722
|
0.00001
|
|
NM_004370.6(COL12A1):c.5230+1G>A
|
rs1274606112
|
0.00001
|
|
NM_004370.6(COL12A1):c.5251+4A>G
|
rs781348212
|
0.00001
|
|
NM_004370.6(COL12A1):c.5252-12A>C
|
rs747721408
|
0.00001
|
|
NM_004370.6(COL12A1):c.5274C>A (p.Asn1758Lys)
|
rs374747725
|
0.00001
|
|
NM_004370.6(COL12A1):c.5309C>T (p.Thr1770Ile)
|
rs201205563
|
0.00001
|
|
NM_004370.6(COL12A1):c.5335C>T (p.Arg1779Cys)
|
rs760210784
|
0.00001
|
|
NM_004370.6(COL12A1):c.5348A>G (p.Tyr1783Cys)
|
rs368526865
|
0.00001
|
|
NM_004370.6(COL12A1):c.5352G>A (p.Arg1784=)
|
rs1372127467
|
0.00001
|
|
NM_004370.6(COL12A1):c.5373A>T (p.Thr1791=)
|
rs1422128161
|
0.00001
|
|
NM_004370.6(COL12A1):c.5415G>A (p.Gln1805=)
|
rs750914354
|
0.00001
|
|
NM_004370.6(COL12A1):c.5432A>G (p.Gln1811Arg)
|
rs558214604
|
0.00001
|
|
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala)
|
rs1461567926
|
0.00001
|
|
NM_004370.6(COL12A1):c.5462T>C (p.Ile1821Thr)
|
rs1464239210
|
0.00001
|
|
NM_004370.6(COL12A1):c.5510G>A (p.Gly1837Glu)
|
rs757825778
|
0.00001
|
|
NM_004370.6(COL12A1):c.5515G>A (p.Gly1839Ser)
|
rs749681990
|
0.00001
|
|
NM_004370.6(COL12A1):c.5563C>A (p.Pro1855Thr)
|
rs1479368774
|
0.00001
|
|
NM_004370.6(COL12A1):c.5564C>G (p.Pro1855Arg)
|
rs371970739
|
0.00001
|
|
NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala)
|
rs750426294
|
0.00001
|
|
NM_004370.6(COL12A1):c.5570C>T (p.Thr1857Ile)
|
rs1239883407
|
0.00001
|
|
NM_004370.6(COL12A1):c.5603A>G (p.Glu1868Gly)
|
rs1370422060
|
0.00001
|
|
NM_004370.6(COL12A1):c.5614C>T (p.Arg1872Cys)
|
rs773807635
|
0.00001
|
|
NM_004370.6(COL12A1):c.5620T>C (p.Tyr1874His)
|
rs1766439644
|
0.00001
|
|
NM_004370.6(COL12A1):c.5629T>G (p.Phe1877Val)
|
rs1416074718
|
0.00001
|
|
NM_004370.6(COL12A1):c.562A>G (p.Thr188Ala)
|
rs767796362
|
0.00001
|
|
NM_004370.6(COL12A1):c.5664+14G>T
|
rs371510068
|
0.00001
|
|
NM_004370.6(COL12A1):c.5676C>T (p.Pro1892=)
|
rs200130428
|
0.00001
|
|
NM_004370.6(COL12A1):c.569C>A (p.Thr190Asn)
|
rs759905934
|
0.00001
|
|
NM_004370.6(COL12A1):c.5724A>G (p.Ser1908=)
|
rs369481796
|
0.00001
|
|
NM_004370.6(COL12A1):c.5795-14C>T
|
rs1178311224
|
0.00001
|
|
NM_004370.6(COL12A1):c.5795-5C>T
|
rs768037406
|
0.00001
|
|
NM_004370.6(COL12A1):c.5816A>C (p.Asn1939Thr)
|
rs1162295476
|
0.00001
|
|
NM_004370.6(COL12A1):c.5859C>T (p.Arg1953=)
|
rs534462036
|
0.00001
|
|
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg)
|
rs755452261
|
0.00001
|
|
NM_004370.6(COL12A1):c.5876G>A (p.Gly1959Glu)
|
rs1179773170
|
0.00001
|
|
NM_004370.6(COL12A1):c.5889A>G (p.Gln1963=)
|
rs374671225
|
0.00001
|
|
NM_004370.6(COL12A1):c.589T>C (p.Tyr197His)
|
rs1769820873
|
0.00001
|
|
NM_004370.6(COL12A1):c.5938-7C>T
|
rs1343757913
|
0.00001
|
|
NM_004370.6(COL12A1):c.5940A>G (p.Ile1980Met)
|
rs376487916
|
0.00001
|
|
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met)
|
rs768824483
|
0.00001
|
|
NM_004370.6(COL12A1):c.5977C>T (p.Arg1993Trp)
|
rs199501842
|
0.00001
|
|
NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln)
|
rs748657616
|
0.00001
|
|
NM_004370.6(COL12A1):c.5987C>T (p.Pro1996Leu)
|
rs752189896
|
0.00001
|
|
NM_004370.6(COL12A1):c.6003C>T (p.Ser2001=)
|
rs762626921
|
0.00001
|
|
NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met)
|
rs181357263
|
0.00001
|
|
NM_004370.6(COL12A1):c.6011T>C (p.Leu2004Pro)
|
rs1023244422
|
0.00001
|
|
NM_004370.6(COL12A1):c.6026C>T (p.Ser2009Leu)
|
rs776981761
|
0.00001
|
|
NM_004370.6(COL12A1):c.6080G>A (p.Gly2027Glu)
|
rs780058273
|
0.00001
|
|
NM_004370.6(COL12A1):c.6100T>C (p.Phe2034Leu)
|
rs1488658209
|
0.00001
|
|
NM_004370.6(COL12A1):c.6105T>A (p.Gly2035=)
|
rs764896298
|
0.00001
|
|
NM_004370.6(COL12A1):c.6114C>A (p.Thr2038=)
|
rs1248355913
|
0.00001
|
|
NM_004370.6(COL12A1):c.6116A>G (p.Asn2039Ser)
|
rs202186932
|
0.00001
|
|
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp)
|
rs947116571
|
0.00001
|
|
NM_004370.6(COL12A1):c.6152C>T (p.Pro2051Leu)
|
rs373325814
|
0.00001
|
|
NM_004370.6(COL12A1):c.6187G>A (p.Val2063Ile)
|
rs1385786827
|
0.00001
|
|
NM_004370.6(COL12A1):c.6211-4A>G
|
rs762268779
|
0.00001
|
|
NM_004370.6(COL12A1):c.6211A>G (p.Thr2071Ala)
|
rs1390899930
|
0.00001
|
|
NM_004370.6(COL12A1):c.622A>C (p.Lys208Gln)
|
rs1769819268
|
0.00001
|
|
NM_004370.6(COL12A1):c.6340+12G>A
|
rs749187959
|
0.00001
|
|
NM_004370.6(COL12A1):c.6340+19C>T
|
rs1244591730
|
0.00001
|
|
NM_004370.6(COL12A1):c.6358C>G (p.Gln2120Glu)
|
rs1366573056
|
0.00001
|
|
NM_004370.6(COL12A1):c.6370A>G (p.Ile2124Val)
|
rs1339963289
|
0.00001
|
|
NM_004370.6(COL12A1):c.6422C>T (p.Ser2141Phe)
|
rs772205982
|
0.00001
|
|
NM_004370.6(COL12A1):c.6427G>C (p.Val2143Leu)
|
rs186836845
|
0.00001
|
|
NM_004370.6(COL12A1):c.6473C>T (p.Pro2158Leu)
|
rs1467078008
|
0.00001
|
|
NM_004370.6(COL12A1):c.6540C>T (p.Tyr2180=)
|
rs372703375
|
0.00001
|
|
NM_004370.6(COL12A1):c.6549T>A (p.Asn2183Lys)
|
rs776701367
|
0.00001
|
|
NM_004370.6(COL12A1):c.6561A>G (p.Gln2187=)
|
rs763927693
|
0.00001
|
|
NM_004370.6(COL12A1):c.6627T>C (p.Asp2209=)
|
rs1458129254
|
0.00001
|
|
NM_004370.6(COL12A1):c.6652G>C (p.Asp2218His)
|
rs374545461
|
0.00001
|
|
NM_004370.6(COL12A1):c.6710T>C (p.Leu2237Pro)
|
rs1298620930
|
0.00001
|
|
NM_004370.6(COL12A1):c.6724+13A>G
|
rs757071502
|
0.00001
|
|
NM_004370.6(COL12A1):c.6744T>C (p.Ile2248=)
|
rs1420789055
|
0.00001
|
|
NM_004370.6(COL12A1):c.6774C>T (p.Cys2258=)
|
rs781120781
|
0.00001
|
|
NM_004370.6(COL12A1):c.6814G>A (p.Val2272Ile)
|
rs1158867383
|
0.00001
|
|
NM_004370.6(COL12A1):c.6837C>T (p.Leu2279=)
|
rs754181144
|
0.00001
|
|
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu)
|
rs775646975
|
0.00001
|
|
NM_004370.6(COL12A1):c.6874G>A (p.Val2292Met)
|
rs1434449708
|
0.00001
|
|
NM_004370.6(COL12A1):c.6891C>T (p.Ala2297=)
|
rs1189256592
|
0.00001
|
|
NM_004370.6(COL12A1):c.6917C>T (p.Pro2306Leu)
|
rs1302398240
|
0.00001
|
|
NM_004370.6(COL12A1):c.6941G>A (p.Arg2314Gln)
|
rs374405599
|
0.00001
|
|
NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn)
|
rs772161963
|
0.00001
|
|
NM_004370.6(COL12A1):c.7019A>G (p.Asn2340Ser)
|
rs1474542485
|
0.00001
|
|
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile)
|
rs745852751
|
0.00001
|
|
NM_004370.6(COL12A1):c.70G>A (p.Glu24Lys)
|
rs1233096096
|
0.00001
|
|
NM_004370.6(COL12A1):c.7152G>A (p.Lys2384=)
|
rs1227090004
|
0.00001
|
|
NM_004370.6(COL12A1):c.7154C>T (p.Ala2385Val)
|
rs372896052
|
0.00001
|
|
NM_004370.6(COL12A1):c.7210+4T>G
|
rs201950823
|
0.00001
|
|
NM_004370.6(COL12A1):c.7210+9A>G
|
rs369099620
|
0.00001
|
|
NM_004370.6(COL12A1):c.7211-3T>C
|
rs766034760
|
0.00001
|
|
NM_004370.6(COL12A1):c.7224G>A (p.Thr2408=)
|
rs368333381
|
0.00001
|
|
NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu)
|
rs755614789
|
0.00001
|
|
NM_004370.6(COL12A1):c.7269G>A (p.Lys2423=)
|
rs776372586
|
0.00001
|
|
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys)
|
rs781647177
|
0.00001
|
|
NM_004370.6(COL12A1):c.74-19T>C
|
rs564822630
|
0.00001
|
|
NM_004370.6(COL12A1):c.7433G>A (p.Arg2478Gln)
|
rs747410893
|
0.00001
|
|
NM_004370.6(COL12A1):c.7437C>T (p.His2479=)
|
rs775670738
|
0.00001
|
|
NM_004370.6(COL12A1):c.7446T>C (p.Ile2482=)
|
rs745549241
|
0.00001
|
|
NM_004370.6(COL12A1):c.7452C>T (p.Asp2484=)
|
rs778626937
|
0.00001
|
|
NM_004370.6(COL12A1):c.746C>T (p.Thr249Met)
|
rs572216195
|
0.00001
|
|
NM_004370.6(COL12A1):c.7476C>T (p.Ile2492=)
|
rs895079123
|
0.00001
|
|
NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys)
|
rs372985511
|
0.00001
|
|
NM_004370.6(COL12A1):c.747G>A (p.Thr249=)
|
rs553802363
|
0.00001
|
|
NM_004370.6(COL12A1):c.7485T>A (p.Asn2495Lys)
|
rs777688811
|
0.00001
|
|
NM_004370.6(COL12A1):c.7491T>C (p.Ile2497=)
|
rs1157317368
|
0.00001
|
|
NM_004370.6(COL12A1):c.74T>C (p.Val25Ala)
|
rs770874037
|
0.00001
|
|
NM_004370.6(COL12A1):c.75T>C (p.Val25=)
|
rs749054316
|
0.00001
|
|
NM_004370.6(COL12A1):c.7676C>T (p.Ala2559Val)
|
rs761234963
|
0.00001
|
|
NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val)
|
rs780133855
|
0.00001
|
|
NM_004370.6(COL12A1):c.769G>C (p.Val257Leu)
|
rs775522044
|
0.00001
|
|
NM_004370.6(COL12A1):c.7721C>G (p.Pro2574Arg)
|
rs770613686
|
0.00001
|
|
NM_004370.6(COL12A1):c.7722T>C (p.Pro2574=)
|
rs748445921
|
0.00001
|
|
NM_004370.6(COL12A1):c.7738A>G (p.Ile2580Val)
|
rs781269301
|
0.00001
|
|
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly)
|
rs1263587165
|
0.00001
|
|
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln)
|
rs200751269
|
0.00001
|
|
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser)
|
rs994920789
|
0.00001
|
|
NM_004370.6(COL12A1):c.7832T>C (p.Ile2611Thr)
|
rs767580803
|
0.00001
|
|
NM_004370.6(COL12A1):c.7884C>T (p.Gly2628=)
|
rs747657598
|
0.00001
|
|
NM_004370.6(COL12A1):c.7915G>A (p.Glu2639Lys)
|
rs1384761865
|
0.00001
|
|
NM_004370.6(COL12A1):c.7918G>A (p.Val2640Ile)
|
rs775684324
|
0.00001
|
|
NM_004370.6(COL12A1):c.7927T>G (p.Leu2643Val)
|
rs199660424
|
0.00001
|
|
NM_004370.6(COL12A1):c.7950+9A>G
|
rs778327157
|
0.00001
|
|
NM_004370.6(COL12A1):c.801T>C (p.Val267=)
|
rs781375448
|
0.00001
|
|
NM_004370.6(COL12A1):c.804A>G (p.Gly268=)
|
rs754993343
|
0.00001
|
|
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe)
|
rs1391973492
|
0.00001
|
|
NM_004370.6(COL12A1):c.8097C>T (p.Ala2699=)
|
rs367966608
|
0.00001
|
|
NM_004370.6(COL12A1):c.8100+14T>A
|
rs750417570
|
0.00001
|
|
NM_004370.6(COL12A1):c.8101-16T>C
|
rs757858823
|
0.00001
|
|
NM_004370.6(COL12A1):c.810A>G (p.Glu270=)
|
rs1326391180
|
0.00001
|
|
NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val)
|
rs749287325
|
0.00001
|
|
NM_004370.6(COL12A1):c.8266-10T>C
|
rs377345950
|
0.00001
|
|
NM_004370.6(COL12A1):c.8286T>C (p.Gly2762=)
|
rs780813814
|
0.00001
|
|
NM_004370.6(COL12A1):c.8290A>G (p.Arg2764Gly)
|
rs1011310040
|
0.00001
|
|
NM_004370.6(COL12A1):c.8358C>T (p.Gly2786=)
|
rs767957084
|
0.00001
|
|
NM_004370.6(COL12A1):c.8369C>T (p.Pro2790Leu)
|
rs755342579
|
0.00001
|
|
NM_004370.6(COL12A1):c.8370T>C (p.Pro2790=)
|
rs553998601
|
0.00001
|
|
NM_004370.6(COL12A1):c.8441C>G (p.Ala2814Gly)
|
rs368105517
|
0.00001
|
|
NM_004370.6(COL12A1):c.8470-3C>A
|
rs1169467662
|
0.00001
|
|
NM_004370.6(COL12A1):c.8470-5T>G
|
rs776830409
|
0.00001
|
|
NM_004370.6(COL12A1):c.8494C>T (p.Pro2832Ser)
|
rs376931672
|
0.00001
|
|
NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg)
|
rs779184954
|
0.00001
|
|
NM_004370.6(COL12A1):c.8523+8T>C
|
rs752217139
|
0.00001
|
|
NM_004370.6(COL12A1):c.8524-3T>C
|
rs755782718
|
0.00001
|
|
NM_004370.6(COL12A1):c.8565A>G (p.Pro2855=)
|
rs202239067
|
0.00001
|
|
NM_004370.6(COL12A1):c.8577+14G>A
|
rs775776703
|
0.00001
|
|
NM_004370.6(COL12A1):c.8579G>C (p.Gly2860Ala)
|
rs758378155
|
0.00001
|
|
NM_004370.6(COL12A1):c.8649+7G>A
|
rs1274498192
|
0.00001
|
|
NM_004370.6(COL12A1):c.8671G>A (p.Glu2891Lys)
|
rs1381259753
|
0.00001
|
|
NM_004370.6(COL12A1):c.8711T>C (p.Met2904Thr)
|
rs1427337137
|
0.00001
|
|
NM_004370.6(COL12A1):c.8743T>C (p.Leu2915=)
|
rs376238729
|
0.00001
|
|
NM_004370.6(COL12A1):c.8753G>T (p.Gly2918Val)
|
rs769818518
|
0.00001
|
|
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys)
|
rs778941390
|
0.00001
|
|
NM_004370.6(COL12A1):c.8857G>T (p.Ala2953Ser)
|
rs201760746
|
0.00001
|
|
NM_004370.6(COL12A1):c.886G>A (p.Val296Ile)
|
rs1273649550
|
0.00001
|
|
NM_004370.6(COL12A1):c.8885G>C (p.Gly2962Ala)
|
rs761885492
|
0.00001
|
|
NM_004370.6(COL12A1):c.8902C>T (p.Pro2968Ser)
|
rs1216270127
|
0.00001
|
|
NM_004370.6(COL12A1):c.8903C>T (p.Pro2968Leu)
|
rs771010070
|
0.00001
|
|
NM_004370.6(COL12A1):c.8927C>A (p.Pro2976His)
|
rs748714098
|
0.00001
|
|
NM_004370.6(COL12A1):c.8990G>A (p.Arg2997Gln)
|
rs778638053
|
0.00001
|
|
NM_004370.6(COL12A1):c.9041C>T (p.Pro3014Leu)
|
rs751306147
|
0.00001
|
|
NM_004370.6(COL12A1):c.912A>G (p.Ala304=)
|
rs767135101
|
0.00001
|
|
NM_004370.6(COL12A1):c.938T>C (p.Ile313Thr)
|
rs774136306
|
0.00001
|
|
NM_004370.6(COL12A1):c.979T>C (p.Leu327=)
|
rs768698427
|
0.00001
|
|
NM_004370.6(COL12A1):c.997+6T>C
|
rs377225744
|
0.00001
|
|
NM_004370.6(COL12A1):c.997G>A (p.Val333Ile)
|
rs1426761655
|
0.00001
|
|
NM_006063.3(KLHL41):c.1027C>T (p.Gln343Ter)
|
rs779140230
|
0.00001
|
|
NM_006063.3(KLHL41):c.102T>C (p.Asp34=)
|
rs748591565
|
0.00001
|
|
NM_006063.3(KLHL41):c.1075A>G (p.Asn359Asp)
|
rs143883202
|
0.00001
|
|
NM_006063.3(KLHL41):c.1111-14T>C
|
rs769561346
|
0.00001
|
|
NM_006063.3(KLHL41):c.1147C>A (p.Pro383Thr)
|
rs760973350
|
0.00001
|
|
NM_006063.3(KLHL41):c.1174G>A (p.Gly392Ser)
|
rs374204816
|
0.00001
|
|
NM_006063.3(KLHL41):c.1268+20C>A
|
rs1245384229
|
0.00001
|
|
NM_006063.3(KLHL41):c.1269-12G>A
|
rs573355443
|
0.00001
|
|
NM_006063.3(KLHL41):c.1284C>T (p.Asn428=)
|
rs373688807
|
0.00001
|
|
NM_006063.3(KLHL41):c.1314T>C (p.Tyr438=)
|
rs1463984577
|
0.00001
|
|
NM_006063.3(KLHL41):c.1346T>C (p.Ile449Thr)
|
rs1410868438
|
0.00001
|
|
NM_006063.3(KLHL41):c.1390A>C (p.Arg464=)
|
rs778940575
|
0.00001
|
|
NM_006063.3(KLHL41):c.1460T>C (p.Met487Thr)
|
rs753046029
|
0.00001
|
|
NM_006063.3(KLHL41):c.14G>A (p.Arg5Gln)
|
rs747822404
|
0.00001
|
|
NM_006063.3(KLHL41):c.1512T>G (p.Thr504=)
|
rs1684148189
|
0.00001
|
|
NM_006063.3(KLHL41):c.1516G>T (p.Asp506Tyr)
|
rs746755443
|
0.00001
|
|
NM_006063.3(KLHL41):c.1614C>A (p.Val538=)
|
rs1446150104
|
0.00001
|
|
NM_006063.3(KLHL41):c.1620G>A (p.Leu540=)
|
rs1157611870
|
0.00001
|
|
NM_006063.3(KLHL41):c.1696A>G (p.Asn566Asp)
|
rs1237694295
|
0.00001
|
|
NM_006063.3(KLHL41):c.1709+20A>G
|
rs762480893
|
0.00001
|
|
NM_006063.3(KLHL41):c.1745T>C (p.Leu582Ser)
|
rs940060854
|
0.00001
|
|
NM_006063.3(KLHL41):c.176G>A (p.Arg59His)
|
rs759521852
|
0.00001
|
|
NM_006063.3(KLHL41):c.1794A>C (p.Leu598Phe)
|
rs893355163
|
0.00001
|
|
NM_006063.3(KLHL41):c.193G>A (p.Glu65Lys)
|
rs772174002
|
0.00001
|
|
NM_006063.3(KLHL41):c.209A>T (p.Lys70Ile)
|
rs751688698
|
0.00001
|
|
NM_006063.3(KLHL41):c.300C>T (p.Asp100=)
|
rs768530305
|
0.00001
|
|
NM_006063.3(KLHL41):c.437A>C (p.Asp146Ala)
|
rs553091070
|
0.00001
|
|
NM_006063.3(KLHL41):c.530A>C (p.Gln177Pro)
|
rs1053056040
|
0.00001
|
|
NM_006063.3(KLHL41):c.581A>C (p.Glu194Ala)
|
rs201591782
|
0.00001
|
|
NM_006063.3(KLHL41):c.667C>T (p.Arg223Cys)
|
rs754460870
|
0.00001
|
|
NM_006063.3(KLHL41):c.751A>G (p.Lys251Glu)
|
rs777151398
|
0.00001
|
|
NM_006063.3(KLHL41):c.778G>A (p.Ala260Thr)
|
rs766071573
|
0.00001
|
|
NM_006063.3(KLHL41):c.795A>G (p.Glu265=)
|
rs1559129545
|
0.00001
|
|
NM_006063.3(KLHL41):c.812C>T (p.Ala271Val)
|
rs1304097331
|
0.00001
|
|
NM_006063.3(KLHL41):c.813G>A (p.Ala271=)
|
rs747222396
|
0.00001
|
|
NM_006063.3(KLHL41):c.840T>A (p.Gly280=)
|
rs755378546
|
0.00001
|
|
NM_006063.3(KLHL41):c.843T>G (p.Asp281Glu)
|
rs773869984
|
0.00001
|
|
NM_006063.3(KLHL41):c.883A>G (p.Ile295Val)
|
rs774846657
|
0.00001
|
|
NM_006063.3(KLHL41):c.959C>T (p.Thr320Met)
|
rs781536513
|
0.00001
|
|
NM_006063.3(KLHL41):c.994C>A (p.Gln332Lys)
|
rs756595110
|
0.00001
|
|
NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn)
|
rs201903235
|
0.00001
|
|
NM_006790.3(MYOT):c.1025-19T>A
|
rs762927139
|
0.00001
|
|
NM_006790.3(MYOT):c.1025-3T>C
|
rs1410370327
|
0.00001
|
|
NM_006790.3(MYOT):c.1102C>T (p.Leu368=)
|
rs747319274
|
0.00001
|
|
NM_006790.3(MYOT):c.1126C>T (p.Pro376Ser)
|
rs777061001
|
0.00001
|
|
NM_006790.3(MYOT):c.1128T>C (p.Pro376=)
|
rs1561665586
|
0.00001
|
|
NM_006790.3(MYOT):c.1139T>C (p.Leu380Pro)
|
rs902179316
|
0.00001
|
|
NM_006790.3(MYOT):c.1184G>A (p.Arg395Gln)
|
rs761659382
|
0.00001
|
|
NM_006790.3(MYOT):c.1191-7A>C
|
rs769023225
|
0.00001
|
|
NM_006790.3(MYOT):c.1191C>T (p.Ser397=)
|
rs1430285102
|
0.00001
|
|
NM_006790.3(MYOT):c.1195T>C (p.Tyr399His)
|
rs147239483
|
0.00001
|
|
NM_006790.3(MYOT):c.1222T>C (p.Leu408=)
|
rs886059968
|
0.00001
|
|
NM_006790.3(MYOT):c.122T>C (p.Ile41Thr)
|
rs587780396
|
0.00001
|
|
NM_006790.3(MYOT):c.1236T>C (p.Asp412=)
|
rs761712531
|
0.00001
|
|
NM_006790.3(MYOT):c.1242C>T (p.Asn414=)
|
rs1173495538
|
0.00001
|
|
NM_006790.3(MYOT):c.1266T>A (p.Thr422=)
|
rs760246681
|
0.00001
|
|
NM_006790.3(MYOT):c.1300T>C (p.Cys434Arg)
|
rs769872126
|
0.00001
|
|
NM_006790.3(MYOT):c.1325-4T>A
|
rs544136408
|
0.00001
|
|
NM_006790.3(MYOT):c.1327C>T (p.Arg443Cys)
|
rs192257955
|
0.00001
|
|
NM_006790.3(MYOT):c.1370G>A (p.Arg457Gln)
|
rs755203621
|
0.00001
|
|
NM_006790.3(MYOT):c.1386A>G (p.Lys462=)
|
rs758512747
|
0.00001
|
|
NM_006790.3(MYOT):c.1391T>C (p.Leu464Ser)
|
rs777693396
|
0.00001
|
|
NM_006790.3(MYOT):c.1411T>C (p.Leu471=)
|
rs886043262
|
0.00001
|
|
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly)
|
rs727504026
|
0.00001
|
|
NM_006790.3(MYOT):c.1442G>A (p.Gly481Glu)
|
rs766736443
|
0.00001
|
|
NM_006790.3(MYOT):c.1471G>A (p.Gly491Arg)
|
rs375274205
|
0.00001
|
|
NM_006790.3(MYOT):c.1478A>G (p.Tyr493Cys)
|
rs757233743
|
0.00001
|
|
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)
|
rs121908458
|
0.00001
|
|
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser)
|
rs1755029530
|
0.00001
|
|
NM_006790.3(MYOT):c.255T>C (p.Val85=)
|
rs368052792
|
0.00001
|
|
NM_006790.3(MYOT):c.318T>C (p.Asp106=)
|
rs753980297
|
0.00001
|
|
NM_006790.3(MYOT):c.372del (p.Ala125fs)
|
rs781353247
|
0.00001
|
|
NM_006790.3(MYOT):c.392C>A (p.Ala131Glu)
|
rs982468554
|
0.00001
|
|
NM_006790.3(MYOT):c.398C>T (p.Pro133Leu)
|
rs779568205
|
0.00001
|
|
NM_006790.3(MYOT):c.414T>C (p.Asn138=)
|
rs747546314
|
0.00001
|
|
NM_006790.3(MYOT):c.420G>A (p.Lys140=)
|
rs1011148618
|
0.00001
|
|
NM_006790.3(MYOT):c.424A>G (p.Ile142Val)
|
rs771238896
|
0.00001
|
|
NM_006790.3(MYOT):c.459A>G (p.Ser153=)
|
rs770101476
|
0.00001
|
|
NM_006790.3(MYOT):c.464A>C (p.Glu155Ala)
|
rs148166751
|
0.00001
|
|
NM_006790.3(MYOT):c.511C>T (p.Leu171Phe)
|
rs997275341
|
0.00001
|
|
NM_006790.3(MYOT):c.524G>A (p.Gly175Glu)
|
rs1304612966
|
0.00001
|
|
NM_006790.3(MYOT):c.560G>A (p.Arg187His)
|
rs200273223
|
0.00001
|
|
NM_006790.3(MYOT):c.618T>C (p.Gly206=)
|
rs1477979641
|
0.00001
|
|
NM_006790.3(MYOT):c.630G>A (p.Ser210=)
|
rs375308029
|
0.00001
|
|
NM_006790.3(MYOT):c.650A>G (p.His217Arg)
|
rs758565747
|
0.00001
|
|
NM_006790.3(MYOT):c.654G>A (p.Ala218=)
|
rs142477496
|
0.00001
|
|
NM_006790.3(MYOT):c.655C>T (p.Arg219Ter)
|
rs781249546
|
0.00001
|
|
NM_006790.3(MYOT):c.683+10T>A
|
rs1296659208
|
0.00001
|
|
NM_006790.3(MYOT):c.683+9T>A
|
rs766928007
|
0.00001
|
|
NM_006790.3(MYOT):c.684-7C>T
|
rs751768323
|
0.00001
|
|
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn)
|
rs193920888
|
0.00001
|
|
NM_006790.3(MYOT):c.751C>T (p.Arg251Cys)
|
rs760118881
|
0.00001
|
|
NM_006790.3(MYOT):c.752G>A (p.Arg251His)
|
rs1477747475
|
0.00001
|
|
NM_006790.3(MYOT):c.816+5G>T
|
rs750433300
|
0.00001
|
|
NM_006790.3(MYOT):c.858T>C (p.Asn286=)
|
rs915451656
|
0.00001
|
|
NM_006790.3(MYOT):c.859G>A (p.Gly287Arg)
|
rs374221793
|
0.00001
|
|
NM_006790.3(MYOT):c.870T>A (p.Val290=)
|
rs946857518
|
0.00001
|
|
NM_006790.3(MYOT):c.966A>G (p.Ala322=)
|
rs765025826
|
0.00001
|
|
NM_006790.3(MYOT):c.96T>C (p.Ser32=)
|
rs545828785
|
0.00001
|
|
NM_006790.3(MYOT):c.998C>T (p.Thr333Ile)
|
rs758194318
|
0.00001
|
|
NM_006790.3(MYOT):c.999C>A (p.Thr333=)
|
rs1320608556
|
0.00001
|
|
NM_007078.3(LDB3):c.1016C>G (p.Ala339Gly)
|
rs764530865
|
0.00001
|
|
NM_007078.3(LDB3):c.1017T>G (p.Ala339=)
|
rs727504526
|
0.00001
|
|
NM_007078.3(LDB3):c.1018G>C (p.Ala340Pro)
|
rs755329877
|
0.00001
|
|
NM_007078.3(LDB3):c.1042G>A (p.Ala348Thr)
|
rs529277058
|
0.00001
|
|
NM_007078.3(LDB3):c.1086-12G>A
|
rs772117977
|
0.00001
|
|
NM_007078.3(LDB3):c.1094C>T (p.Ala365Val)
|
rs747011937
|
0.00001
|
|
NM_007078.3(LDB3):c.1105A>G (p.Ser369Gly)
|
rs181700296
|
0.00001
|
|
NM_007078.3(LDB3):c.1129G>A (p.Ala377Thr)
|
rs794729061
|
0.00001
|
|
NM_007078.3(LDB3):c.1132C>T (p.Pro378Ser)
|
rs373546361
|
0.00001
|
|
NM_007078.3(LDB3):c.1147A>G (p.Ser383Gly)
|
rs752615115
|
0.00001
|
|
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly)
|
rs777547764
|
0.00001
|
|
NM_007078.3(LDB3):c.1168G>A (p.Ala390Thr)
|
rs748672176
|
0.00001
|
|
NM_007078.3(LDB3):c.11G>A (p.Ser4Asn)
|
rs766405051
|
0.00001
|
|
NM_007078.3(LDB3):c.1200T>G (p.Thr400=)
|
rs1447980981
|
0.00001
|
|
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln)
|
rs150868546
|
0.00001
|
|
NM_007078.3(LDB3):c.1231+14C>G
|
rs1846586366
|
0.00001
|
|
NM_007078.3(LDB3):c.1232-18T>A
|
rs764158731
|
0.00001
|
|
NM_007078.3(LDB3):c.1269T>G (p.Asn423Lys)
|
rs375894985
|
0.00001
|
|
NM_007078.3(LDB3):c.1298C>T (p.Pro433Leu)
|
rs776138543
|
0.00001
|
|
NM_007078.3(LDB3):c.1313C>A (p.Thr438Asn)
|
rs767914340
|
0.00001
|
|
NM_007078.3(LDB3):c.1332C>T (p.Ala444=)
|
rs1441065258
|
0.00001
|
|
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn)
|
rs397517212
|
0.00001
|
|
NM_007078.3(LDB3):c.13G>A (p.Val5Met)
|
rs773170985
|
0.00001
|
|
NM_007078.3(LDB3):c.1418C>A (p.Pro473His)
|
rs780427609
|
0.00001
|
|
NM_007078.3(LDB3):c.1421C>T (p.Ser474Leu)
|
rs1011836119
|
0.00001
|
|
NM_007078.3(LDB3):c.1434C>T (p.Ser478=)
|
rs1273006981
|
0.00001
|
|
NM_007078.3(LDB3):c.1446G>A (p.Ala482=)
|
rs745655908
|
0.00001
|
|
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu)
|
rs139709036
|
0.00001
|
|
NM_007078.3(LDB3):c.1480G>A (p.Asp494Asn)
|
rs773233738
|
0.00001
|
|
NM_007078.3(LDB3):c.1486T>G (p.Phe496Val)
|
rs141652573
|
0.00001
|
|
NM_007078.3(LDB3):c.1497G>T (p.Lys499Asn)
|
rs1278770988
|
0.00001
|
|
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val)
|
rs755362259
|
0.00001
|
|
NM_007078.3(LDB3):c.1556C>A (p.Pro519Gln)
|
rs1309491635
|
0.00001
|
|
NM_007078.3(LDB3):c.1562A>G (p.Tyr521Cys)
|
rs535737552
|
0.00001
|
|
NM_007078.3(LDB3):c.158A>G (p.Asp53Gly)
|
rs935307586
|
0.00001
|
|
NM_007078.3(LDB3):c.1605C>T (p.Thr535=)
|
rs727505207
|
0.00001
|
|
NM_007078.3(LDB3):c.1633A>G (p.Ser545Gly)
|
rs1370639524
|
0.00001
|
|
NM_007078.3(LDB3):c.1664A>G (p.Asn555Ser)
|
rs760635362
|
0.00001
|
|
NM_007078.3(LDB3):c.1677-11T>C
|
rs779076719
|
0.00001
|
|
NM_007078.3(LDB3):c.1677-19C>T
|
rs749512075
|
0.00001
|
|
NM_007078.3(LDB3):c.1690G>A (p.Val564Ile)
|
rs962296772
|
0.00001
|
|
NM_007078.3(LDB3):c.172G>A (p.Asp58Asn)
|
rs730880127
|
0.00001
|
|
NM_007078.3(LDB3):c.1736A>G (p.Tyr579Cys)
|
rs199749907
|
0.00001
|
|
NM_007078.3(LDB3):c.1748C>G (p.Ser583Cys)
|
rs1263835922
|
0.00001
|
|
NM_007078.3(LDB3):c.1786G>A (p.Val596Ile)
|
rs727503130
|
0.00001
|
|
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter)
|
rs727503132
|
0.00001
|
|
NM_007078.3(LDB3):c.1799G>A (p.Arg600Gln)
|
rs747523570
|
0.00001
|
|
NM_007078.3(LDB3):c.1805A>C (p.Tyr602Ser)
|
rs1349969494
|
0.00001
|
|
NM_007078.3(LDB3):c.1827G>A (p.Leu609=)
|
rs1217545964
|
0.00001
|
|
NM_007078.3(LDB3):c.1851T>C (p.Ile617=)
|
rs145402041
|
0.00001
|
|
NM_007078.3(LDB3):c.1857+15T>A
|
rs1408850535
|
0.00001
|
|
NM_007078.3(LDB3):c.1869T>C (p.His623=)
|
rs1846966684
|
0.00001
|
|
NM_007078.3(LDB3):c.1885T>C (p.Trp629Arg)
|
rs773554501
|
0.00001
|
|
NM_007078.3(LDB3):c.1890C>T (p.His630=)
|
rs748921017
|
0.00001
|
|
NM_007078.3(LDB3):c.1894A>G (p.Thr632Ala)
|
rs770525232
|
0.00001
|
|
NM_007078.3(LDB3):c.1917C>T (p.Cys639=)
|
rs1190390565
|
0.00001
|
|
NM_007078.3(LDB3):c.1947C>T (p.His649=)
|
rs555375533
|
0.00001
|
|
NM_007078.3(LDB3):c.1978G>A (p.Asp660Asn)
|
rs1442071380
|
0.00001
|
|
NM_007078.3(LDB3):c.2025C>T (p.Pro675=)
|
rs876657490
|
0.00001
|
|
NM_007078.3(LDB3):c.2026G>A (p.Val676Met)
|
rs549994359
|
0.00001
|
|
NM_007078.3(LDB3):c.2037C>T (p.Gly679=)
|
rs754386652
|
0.00001
|
|
NM_007078.3(LDB3):c.2049C>T (p.Ile683=)
|
rs377178682
|
0.00001
|
|
NM_007078.3(LDB3):c.2056C>G (p.Leu686Val)
|
rs910863988
|
0.00001
|
|
NM_007078.3(LDB3):c.2060G>A (p.Gly687Asp)
|
rs1230240655
|
0.00001
|
|
NM_007078.3(LDB3):c.2091C>T (p.Cys697=)
|
rs571356142
|
0.00001
|
|
NM_007078.3(LDB3):c.2094+10T>C
|
rs769802374
|
0.00001
|
|
NM_007078.3(LDB3):c.2094+5G>A
|
rs1847251877
|
0.00001
|
|
NM_007078.3(LDB3):c.2119C>T (p.Gln707Ter)
|
rs771316707
|
0.00001
|
|
NM_007078.3(LDB3):c.2123C>T (p.Pro708Leu)
|
rs774815578
|
0.00001
|
|
NM_007078.3(LDB3):c.2135A>G (p.Lys712Arg)
|
rs1451712853
|
0.00001
|
|
NM_007078.3(LDB3):c.2142C>A (p.Asp714Glu)
|
rs1054918785
|
0.00001
|
|
NM_007078.3(LDB3):c.2157G>A (p.Lys719=)
|
rs758201230
|
0.00001
|
|
NM_007078.3(LDB3):c.2163C>T (p.His721=)
|
rs556787635
|
0.00001
|
|
NM_007078.3(LDB3):c.2164G>A (p.Ala722Thr)
|
rs727505129
|
0.00001
|
|
NM_007078.3(LDB3):c.21G>T (p.Leu7=)
|
rs367818009
|
0.00001
|
|
NM_007078.3(LDB3):c.234C>A (p.Leu78=)
|
rs947293580
|
0.00001
|
|
NM_007078.3(LDB3):c.236C>T (p.Thr79Ile)
|
rs397517221
|
0.00001
|
|
NM_007078.3(LDB3):c.246-4A>G
|
rs370264195
|
0.00001
|
|
NM_007078.3(LDB3):c.254G>A (p.Arg85His)
|
rs200420174
|
0.00001
|
|
NM_007078.3(LDB3):c.269C>G (p.Ser90Cys)
|
rs765975330
|
0.00001
|
|
NM_007078.3(LDB3):c.272C>T (p.Thr91Met)
|
rs769237367
|
0.00001
|
|
NM_007078.3(LDB3):c.281C>T (p.Pro94Leu)
|
rs772912790
|
0.00001
|
|
NM_007078.3(LDB3):c.303G>A (p.Pro101=)
|
rs559350698
|
0.00001
|
|
NM_007078.3(LDB3):c.31G>A (p.Gly11Arg)
|
rs370493508
|
0.00001
|
|
NM_007078.3(LDB3):c.322-20C>T
|
rs199536065
|
0.00001
|
|
NM_007078.3(LDB3):c.322-8T>C
|
rs1346147675
|
0.00001
|
|
NM_007078.3(LDB3):c.324C>A (p.Asp108Glu)
|
rs1322226509
|
0.00001
|
|
NM_007078.3(LDB3):c.328G>A (p.Ala110Thr)
|
rs768737496
|
0.00001
|
|
NM_007078.3(LDB3):c.348C>T (p.Ser116=)
|
rs1060504200
|
0.00001
|
|
NM_007078.3(LDB3):c.368G>A (p.Ser123Asn)
|
rs754266629
|
0.00001
|
|
NM_007078.3(LDB3):c.380G>A (p.Arg127Lys)
|
rs1365412037
|
0.00001
|
|
NM_007078.3(LDB3):c.395C>T (p.Thr132Ile)
|
rs146527589
|
0.00001
|
|
NM_007078.3(LDB3):c.396C>T (p.Thr132=)
|
rs768251789
|
0.00001
|
|
NM_007078.3(LDB3):c.415A>G (p.Arg139Gly)
|
rs199801766
|
0.00001
|
|
NM_007078.3(LDB3):c.433G>T (p.Ala145Ser)
|
rs758814399
|
0.00001
|
|
NM_007078.3(LDB3):c.437T>C (p.Phe146Ser)
|
rs1480923559
|
0.00001
|
|
NM_007078.3(LDB3):c.442C>T (p.Arg148Trp)
|
rs536186237
|
0.00001
|
|
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln)
|
rs751254270
|
0.00001
|
|
NM_007078.3(LDB3):c.447C>T (p.Pro149=)
|
rs1245240747
|
0.00001
|
|
NM_007078.3(LDB3):c.467C>T (p.Ala156Val)
|
rs1243384140
|
0.00001
|
|
NM_007078.3(LDB3):c.488C>G (p.Pro163Arg)
|
rs776608362
|
0.00001
|
|
NM_007078.3(LDB3):c.501C>A (p.Ser167Arg)
|
rs1183240131
|
0.00001
|
|
NM_007078.3(LDB3):c.507G>A (p.Arg169=)
|
rs1475637979
|
0.00001
|
|
NM_007078.3(LDB3):c.51G>A (p.Leu17=)
|
rs752452361
|
0.00001
|
|
NM_007078.3(LDB3):c.536A>G (p.Asp179Gly)
|
rs794729058
|
0.00001
|
|
NM_007078.3(LDB3):c.540A>G (p.Leu180=)
|
rs1283051092
|
0.00001
|
|
NM_007078.3(LDB3):c.54G>T (p.Gln18His)
|
rs149348427
|
0.00001
|
|
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu)
|
rs774886148
|
0.00001
|
|
NM_007078.3(LDB3):c.560C>T (p.Pro187Leu)
|
rs149218167
|
0.00001
|
|
NM_007078.3(LDB3):c.56G>C (p.Gly19Ala)
|
rs753314972
|
0.00001
|
|
NM_007078.3(LDB3):c.575C>T (p.Pro192Leu)
|
rs758182278
|
0.00001
|
|
NM_007078.3(LDB3):c.592C>T (p.Pro198Ser)
|
rs1060501318
|
0.00001
|
|
NM_007078.3(LDB3):c.617C>T (p.Thr206Ile)
|
rs121908337
|
0.00001
|
|
NM_007078.3(LDB3):c.645G>A (p.Gln215=)
|
rs957930268
|
0.00001
|
|
NM_007078.3(LDB3):c.650G>A (p.Ser217Asn)
|
rs1246502816
|
0.00001
|
|
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter)
|
rs727503123
|
0.00001
|
|
NM_007078.3(LDB3):c.689+3902G>A
|
rs1057521576
|
0.00001
|
|
NM_007078.3(LDB3):c.690-4616C>T
|
rs757618215
|
0.00001
|
|
NM_007078.3(LDB3):c.690-4832C>T
|
rs546887989
|
0.00001
|
|
NM_007078.3(LDB3):c.690-4841C>T
|
rs777780639
|
0.00001
|
|
NM_007078.3(LDB3):c.716T>C (p.Val239Ala)
|
rs774595610
|
0.00001
|
|
NM_007078.3(LDB3):c.723C>T (p.Ser241=)
|
rs200580597
|
0.00001
|
|
NM_007078.3(LDB3):c.72C>A (p.Asn24Lys)
|
rs1323002546
|
0.00001
|
|
NM_007078.3(LDB3):c.778G>A (p.Ala260Thr)
|
rs777637914
|
0.00001
|
|
NM_007078.3(LDB3):c.782A>C (p.Asp261Ala)
|
rs1285921374
|
0.00001
|
|
NM_007078.3(LDB3):c.783C>T (p.Asp261=)
|
rs45470296
|
0.00001
|
|
NM_007078.3(LDB3):c.790G>A (p.Ala264Thr)
|
rs146414300
|
0.00001
|
|
NM_007078.3(LDB3):c.796C>T (p.Arg266Cys)
|
rs776803568
|
0.00001
|
|
NM_007078.3(LDB3):c.816T>C (p.Ser272=)
|
rs1012940823
|
0.00001
|
|
NM_007078.3(LDB3):c.817C>T (p.Arg273Cys)
|
rs141116920
|
0.00001
|
|
NM_007078.3(LDB3):c.827G>A (p.Arg276His)
|
rs774519585
|
0.00001
|
|
NM_007078.3(LDB3):c.829A>T (p.Ile277Phe)
|
rs78680509
|
0.00001
|
|
NM_007078.3(LDB3):c.831C>T (p.Ile277=)
|
rs752273360
|
0.00001
|
|
NM_007078.3(LDB3):c.845C>T (p.Thr282Met)
|
rs199811186
|
0.00001
|
|
NM_007078.3(LDB3):c.846G>A (p.Thr282=)
|
rs1026972237
|
0.00001
|
|
NM_007078.3(LDB3):c.858C>T (p.Phe286=)
|
rs764056994
|
0.00001
|
|
NM_007078.3(LDB3):c.859A>G (p.Met287Val)
|
rs1353972543
|
0.00001
|
|
NM_007078.3(LDB3):c.869C>T (p.Pro290Leu)
|
rs775180716
|
0.00001
|
|
NM_007078.3(LDB3):c.888A>G (p.Arg296=)
|
rs776143895
|
0.00001
|
|
NM_007078.3(LDB3):c.890G>A (p.Arg297Lys)
|
rs1266510625
|
0.00001
|
|
NM_007078.3(LDB3):c.892T>G (p.Ser298Ala)
|
rs953198544
|
0.00001
|
|
NM_007078.3(LDB3):c.896+5G>A
|
rs368078924
|
0.00001
|
|
NM_007078.3(LDB3):c.897-1_897del
|
rs1354084230
|
0.00001
|
|
NM_007078.3(LDB3):c.914C>A (p.Ala305Glu)
|
rs544084461
|
0.00001
|
|
NM_007078.3(LDB3):c.917C>T (p.Pro306Leu)
|
rs955622381
|
0.00001
|
|
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp)
|
rs367792378
|
0.00001
|
|
NM_007078.3(LDB3):c.93+18C>T
|
rs1412849750
|
0.00001
|
|
NM_007078.3(LDB3):c.94-9T>C
|
rs1282721488
|
0.00001
|
|
NM_007078.3(LDB3):c.940A>G (p.Thr314Ala)
|
rs756910859
|
0.00001
|
|
NM_007078.3(LDB3):c.955G>A (p.Ala319Thr)
|
rs151219713
|
0.00001
|
|
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr)
|
rs749520121
|
0.00001
|
|
NM_017534.6(MYH2):c.1005A>G (p.Thr335=)
|
rs148584222
|
0.00001
|
|
NM_017534.6(MYH2):c.1008+8G>A
|
rs1177477956
|
0.00001
|
|
NM_017534.6(MYH2):c.1046A>G (p.Lys349Arg)
|
rs748792149
|
0.00001
|
|
NM_017534.6(MYH2):c.112G>A (p.Val38Ile)
|
rs1273237983
|
0.00001
|
|
NM_017534.6(MYH2):c.122C>T (p.Ala41Val)
|
rs765877777
|
0.00001
|
|
NM_017534.6(MYH2):c.1251C>A (p.Gly417=)
|
rs746987085
|
0.00001
|
|
NM_017534.6(MYH2):c.1267G>A (p.Val423Met)
|
rs1433670000
|
0.00001
|
|
NM_017534.6(MYH2):c.1306G>A (p.Glu436Lys)
|
rs756281353
|
0.00001
|
|
NM_017534.6(MYH2):c.130A>G (p.Lys44Glu)
|
rs769767111
|
0.00001
|
|
NM_017534.6(MYH2):c.1344G>A (p.Gln448=)
|
rs752068908
|
0.00001
|
|
NM_017534.6(MYH2):c.1380C>T (p.Ile460=)
|
rs1057356939
|
0.00001
|
|
NM_017534.6(MYH2):c.1381G>A (p.Gly461Arg)
|
rs1238892450
|
0.00001
|
|
NM_017534.6(MYH2):c.1492G>A (p.Val498Met)
|
rs374726398
|
0.00001
|
|
NM_017534.6(MYH2):c.1495C>T (p.Leu499=)
|
rs770838005
|
0.00001
|
|
NM_017534.6(MYH2):c.1543G>A (p.Asp515Asn)
|
rs372386851
|
0.00001
|
|
NM_017534.6(MYH2):c.1546T>G (p.Phe516Val)
|
rs894307740
|
0.00001
|
|
NM_017534.6(MYH2):c.1569C>T (p.Cys523=)
|
rs757583409
|
0.00001
|
|
NM_017534.6(MYH2):c.1581C>T (p.Ile527=)
|
rs1050588952
|
0.00001
|
|
NM_017534.6(MYH2):c.1599C>A (p.Ile533=)
|
rs1242525725
|
0.00001
|
|
NM_017534.6(MYH2):c.1605C>T (p.Ser535=)
|
rs776466384
|
0.00001
|
|
NM_017534.6(MYH2):c.1711G>A (p.Val571Met)
|
rs778226679
|
0.00001
|
|
NM_017534.6(MYH2):c.1741G>A (p.Ala581Thr)
|
rs757972369
|
0.00001
|
|
NM_017534.6(MYH2):c.1763T>C (p.Val588Ala)
|
rs753668463
|
0.00001
|
|
NM_017534.6(MYH2):c.186G>T (p.Val62=)
|
rs2073653873
|
0.00001
|
|
NM_017534.6(MYH2):c.1879G>T (p.Ala627Ser)
|
rs778516827
|
0.00001
|
|
NM_017534.6(MYH2):c.1927G>A (p.Gly643Ser)
|
rs781153789
|
0.00001
|
|
NM_017534.6(MYH2):c.1938G>A (p.Lys646=)
|
rs140568348
|
0.00001
|
|
NM_017534.6(MYH2):c.1975-1G>C
|
rs201082272
|
0.00001
|
|
NM_017534.6(MYH2):c.19T>C (p.Leu7=)
|
rs753844617
|
0.00001
|
|
NM_017534.6(MYH2):c.2031G>A (p.Arg677=)
|
rs764492569
|
0.00001
|
|
NM_017534.6(MYH2):c.2057C>A (p.Thr686Asn)
|
rs767880435
|
0.00001
|
|
NM_017534.6(MYH2):c.2063-2A>T
|
rs1349048266
|
0.00001
|
|
NM_017534.6(MYH2):c.2071G>A (p.Glu691Lys)
|
rs972757672
|
0.00001
|
|
NM_017534.6(MYH2):c.2077G>A (p.Glu693Lys)
|
rs1426839625
|
0.00001
|
|
NM_017534.6(MYH2):c.2092C>G (p.Gln698Glu)
|
rs142443410
|
0.00001
|
|
NM_017534.6(MYH2):c.2124C>T (p.Ile708=)
|
rs764971385
|
0.00001
|
|
NM_017534.6(MYH2):c.212C>T (p.Thr71Ile)
|
rs145472283
|
0.00001
|
|
NM_017534.6(MYH2):c.2173A>T (p.Lys725Ter)
|
rs1027921042
|
0.00001
|
|
NM_017534.6(MYH2):c.2181-14A>T
|
rs763527495
|
0.00001
|
|
NM_017534.6(MYH2):c.2273A>C (p.Asp758Ala)
|
rs758731503
|
0.00001
|
|
NM_017534.6(MYH2):c.2277C>T (p.His759=)
|
rs755083709
|
0.00001
|
|
NM_017534.6(MYH2):c.2280C>A (p.Thr760=)
|
rs891954130
|
0.00001
|
|
NM_017534.6(MYH2):c.2305-11T>G
|
rs369500791
|
0.00001
|
|
NM_017534.6(MYH2):c.2390G>T (p.Arg797Met)
|
rs771139007
|
0.00001
|
|
NM_017534.6(MYH2):c.239T>C (p.Met80Thr)
|
rs764144162
|
0.00001
|
|
NM_017534.6(MYH2):c.2441+13T>C
|
rs181340024
|
0.00001
|
|
NM_017534.6(MYH2):c.2493G>A (p.Lys831=)
|
rs778712421
|
0.00001
|
|
NM_017534.6(MYH2):c.2496C>T (p.His832=)
|
rs757177803
|
0.00001
|
|
NM_017534.6(MYH2):c.2517C>T (p.Phe839=)
|
rs1489105001
|
0.00001
|
|
NM_017534.6(MYH2):c.2602G>A (p.Glu868Lys)
|
rs267604724
|
0.00001
|
|
NM_017534.6(MYH2):c.2617G>A (p.Glu873Lys)
|
rs770099846
|
0.00001
|
|
NM_017534.6(MYH2):c.2654C>T (p.Thr885Met)
|
rs150566222
|
0.00001
|
|
NM_017534.6(MYH2):c.2671A>G (p.Asn891Asp)
|
rs763476894
|
0.00001
|
|
NM_017534.6(MYH2):c.2789A>G (p.Glu930Gly)
|
rs1335748239
|
0.00001
|
|
NM_017534.6(MYH2):c.2800G>A (p.Asp934Asn)
|
rs201945489
|
0.00001
|
|
NM_017534.6(MYH2):c.2940+7A>G
|
rs960028879
|
0.00001
|
|
NM_017534.6(MYH2):c.2940G>C (p.Lys980Asn)
|
rs2073403461
|
0.00001
|
|
NM_017534.6(MYH2):c.2963T>A (p.Met988Lys)
|
rs749824406
|
0.00001
|
|
NM_017534.6(MYH2):c.2987C>T (p.Ala996Val)
|
rs201793838
|
0.00001
|
|
NM_017534.6(MYH2):c.3027C>G (p.His1009Gln)
|
rs761382091
|
0.00001
|
|
NM_017534.6(MYH2):c.3046C>G (p.Leu1016Val)
|
rs771807032
|
0.00001
|
|
NM_017534.6(MYH2):c.3124G>A (p.Gly1042Arg)
|
rs2073398000
|
0.00001
|
|
NM_017534.6(MYH2):c.3214A>T (p.Ile1072Leu)
|
rs2073396485
|
0.00001
|
|
NM_017534.6(MYH2):c.3263+10A>T
|
rs771160529
|
0.00001
|
|
NM_017534.6(MYH2):c.3263+11A>G
|
rs890845570
|
0.00001
|
|
NM_017534.6(MYH2):c.3263+19C>T
|
rs570103943
|
0.00001
|
|
NM_017534.6(MYH2):c.3354+6T>C
|
rs759993294
|
0.00001
|
|
NM_017534.6(MYH2):c.3358C>T (p.Arg1120Cys)
|
rs756255059
|
0.00001
|
|
NM_017534.6(MYH2):c.3395G>A (p.Arg1132Gln)
|
rs778993350
|
0.00001
|
|
NM_017534.6(MYH2):c.3424C>T (p.Arg1142Cys)
|
rs752906702
|
0.00001
|
|
NM_017534.6(MYH2):c.3430G>C (p.Asp1144His)
|
rs2073390411
|
0.00001
|
|
NM_017534.6(MYH2):c.348C>T (p.Tyr116=)
|
rs570034593
|
0.00001
|
|
NM_017534.6(MYH2):c.3518G>A (p.Arg1173Gln)
|
rs886043621
|
0.00001
|
|
NM_017534.6(MYH2):c.3541C>T (p.Arg1181Cys)
|
rs201768483
|
0.00001
|
|
NM_017534.6(MYH2):c.3564C>A (p.Thr1188=)
|
rs776880055
|
0.00001
|
|
NM_017534.6(MYH2):c.3571C>T (p.His1191Tyr)
|
rs938797010
|
0.00001
|
|
NM_017534.6(MYH2):c.3574G>A (p.Glu1192Lys)
|
rs780122233
|
0.00001
|
|
NM_017534.6(MYH2):c.3584C>T (p.Ala1195Val)
|
rs373108053
|
0.00001
|
|
NM_017534.6(MYH2):c.3604C>T (p.His1202Tyr)
|
rs764501722
|
0.00001
|
|
NM_017534.6(MYH2):c.3611A>G (p.Asp1204Gly)
|
rs2073386786
|
0.00001
|
|
NM_017534.6(MYH2):c.3622G>A (p.Glu1208Lys)
|
rs546948489
|
0.00001
|
|
NM_017534.6(MYH2):c.3653G>A (p.Arg1218Gln)
|
rs139755852
|
0.00001
|
|
NM_017534.6(MYH2):c.3745-3T>C
|
rs1305490194
|
0.00001
|
|
NM_017534.6(MYH2):c.3767G>A (p.Arg1256Gln)
|
rs141448415
|
0.00001
|
|
NM_017534.6(MYH2):c.3785T>G (p.Leu1262Arg)
|
rs1178928941
|
0.00001
|
|
NM_017534.6(MYH2):c.3941T>C (p.Phe1314Ser)
|
rs766227489
|
0.00001
|
|
NM_017534.6(MYH2):c.3946C>A (p.Gln1316Lys)
|
rs554431336
|
0.00001
|
|
NM_017534.6(MYH2):c.3950A>C (p.Gln1317Pro)
|
rs1380534578
|
0.00001
|
|
NM_017534.6(MYH2):c.4023T>C (p.Ser1341=)
|
rs1232533849
|
0.00001
|
|
NM_017534.6(MYH2):c.4084G>A (p.Glu1362Lys)
|
rs772043473
|
0.00001
|
|
NM_017534.6(MYH2):c.4098A>G (p.Ala1366=)
|
rs1199962484
|
0.00001
|
|
NM_017534.6(MYH2):c.4103C>T (p.Ser1368Phe)
|
rs754037459
|
0.00001
|
|
NM_017534.6(MYH2):c.4117G>A (p.Glu1373Lys)
|
rs374190003
|
0.00001
|
|
NM_017534.6(MYH2):c.4143C>T (p.Tyr1381=)
|
rs1042076
|
0.00001
|
|
NM_017534.6(MYH2):c.4144G>A (p.Glu1382Lys)
|
rs2073357858
|
0.00001
|
|
NM_017534.6(MYH2):c.4154C>T (p.Ala1385Val)
|
rs1406857706
|
0.00001
|
|
NM_017534.6(MYH2):c.4162C>T (p.Arg1388Cys)
|
rs140775405
|
0.00001
|
|
NM_017534.6(MYH2):c.4199C>T (p.Ala1400Val)
|
rs770023922
|
0.00001
|
|
NM_017534.6(MYH2):c.4243G>A (p.Ala1415Thr)
|
rs755848527
|
0.00001
|
|
NM_017534.6(MYH2):c.4252G>T (p.Ala1418Ser)
|
rs752335450
|
0.00001
|
|
NM_017534.6(MYH2):c.4261G>A (p.Glu1421Lys)
|
rs368304404
|
0.00001
|
|
NM_017534.6(MYH2):c.4291G>A (p.Val1431Ile)
|
rs776820408
|
0.00001
|
|
NM_017534.6(MYH2):c.4294G>A (p.Glu1432Lys)
|
rs747081221
|
0.00001
|
|
NM_017534.6(MYH2):c.4330G>A (p.Ala1444Thr)
|
rs142908651
|
0.00001
|
|
NM_017534.6(MYH2):c.4338C>T (p.Ala1446=)
|
rs1329410668
|
0.00001
|
|
NM_017534.6(MYH2):c.4366G>A (p.Asp1456Asn)
|
rs761573741
|
0.00001
|
|
NM_017534.6(MYH2):c.4369A>G (p.Lys1457Glu)
|
rs776886264
|
0.00001
|
|
NM_017534.6(MYH2):c.4371+11C>A
|
rs746440872
|
0.00001
|
|
NM_017534.6(MYH2):c.4372-15G>A
|
rs190385121
|
0.00001
|
|
NM_017534.6(MYH2):c.4392G>A (p.Gln1464=)
|
rs1245033619
|
0.00001
|
|
NM_017534.6(MYH2):c.4424C>A (p.Ala1475Asp)
|
rs938120515
|
0.00001
|
|
NM_017534.6(MYH2):c.4441C>T (p.Arg1481Cys)
|
rs990939157
|
0.00001
|
|
NM_017534.6(MYH2):c.4517G>A (p.Arg1506Gln)
|
rs1049022189
|
0.00001
|
|
NM_017534.6(MYH2):c.4533A>G (p.Leu1511=)
|
rs1467089006
|
0.00001
|
|
NM_017534.6(MYH2):c.4537+1G>A
|
rs567336764
|
0.00001
|
|
NM_017534.6(MYH2):c.4554C>T (p.Leu1518=)
|
rs375114012
|
0.00001
|
|
NM_017534.6(MYH2):c.456G>A (p.Pro152=)
|
rs772443784
|
0.00001
|
|
NM_017534.6(MYH2):c.4596G>A (p.Leu1532=)
|
rs1449785747
|
0.00001
|
|
NM_017534.6(MYH2):c.4650A>G (p.Leu1550=)
|
rs1386357039
|
0.00001
|
|
NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys)
|
rs529367667
|
0.00001
|
|
NM_017534.6(MYH2):c.474C>G (p.Ile158Met)
|
rs780719632
|
0.00001
|
|
NM_017534.6(MYH2):c.4817C>T (p.Thr1606Met)
|
rs768621451
|
0.00001
|
|
NM_017534.6(MYH2):c.483C>T (p.Asn161=)
|
rs1597458366
|
0.00001
|
|
NM_017534.6(MYH2):c.4919G>A (p.Arg1640His)
|
rs772914345
|
0.00001
|
|
NM_017534.6(MYH2):c.4947C>T (p.Tyr1649=)
|
rs3181659
|
0.00001
|
|
NM_017534.6(MYH2):c.4961G>C (p.Gly1654Ala)
|
rs1126556
|
0.00001
|
|
NM_017534.6(MYH2):c.4966C>T (p.Leu1656Phe)
|
rs369083161
|
0.00001
|
|
NM_017534.6(MYH2):c.4971+15G>C
|
rs779161804
|
0.00001
|
|
NM_017534.6(MYH2):c.5030T>G (p.Leu1677Arg)
|
rs2073325642
|
0.00001
|
|
NM_017534.6(MYH2):c.5095G>C (p.Glu1699Gln)
|
rs1321342402
|
0.00001
|
|
NM_017534.6(MYH2):c.509G>A (p.Arg170Gln)
|
rs778801023
|
0.00001
|
|
NM_017534.6(MYH2):c.5121C>T (p.Ile1707=)
|
rs780525531
|
0.00001
|
|
NM_017534.6(MYH2):c.5136C>G (p.Leu1712=)
|
rs191349011
|
0.00001
|
|
NM_017534.6(MYH2):c.5210A>C (p.Glu1737Ala)
|
rs760648896
|
0.00001
|
|
NM_017534.6(MYH2):c.5261C>T (p.Ala1754Val)
|
rs747877150
|
0.00001
|
|
NM_017534.6(MYH2):c.52C>T (p.Arg18Ter)
|
rs769712128
|
0.00001
|
|
NM_017534.6(MYH2):c.5304C>T (p.Ala1768=)
|
rs562803081
|
0.00001
|
|
NM_017534.6(MYH2):c.5323C>G (p.Leu1775Val)
|
rs753602134
|
0.00001
|
|
NM_017534.6(MYH2):c.533+19T>A
|
rs752762468
|
0.00001
|
|
NM_017534.6(MYH2):c.533+1G>A
|
rs754104695
|
0.00001
|
|
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile)
|
rs756953958
|
0.00001
|
|
NM_017534.6(MYH2):c.5345G>A (p.Ser1782Asn)
|
rs1178820376
|
0.00001
|
|
NM_017534.6(MYH2):c.5347G>A (p.Ala1783Thr)
|
rs759668950
|
0.00001
|
|
NM_017534.6(MYH2):c.5360G>A (p.Arg1787Gln)
|
rs770182875
|
0.00001
|
|
NM_017534.6(MYH2):c.5362A>G (p.Met1788Val)
|
rs572874607
|
0.00001
|
|
NM_017534.6(MYH2):c.5386G>A (p.Val1796Met)
|
rs778350338
|
0.00001
|
|
NM_017534.6(MYH2):c.5404C>T (p.Arg1802Cys)
|
rs746710734
|
0.00001
|
|
NM_017534.6(MYH2):c.5415G>A (p.Glu1805=)
|
rs755909213
|
0.00001
|
|
NM_017534.6(MYH2):c.5472+1G>A
|
rs758888662
|
0.00001
|
|
NM_017534.6(MYH2):c.5473-6T>C
|
rs781072001
|
0.00001
|
|
NM_017534.6(MYH2):c.5545C>T (p.His1849Tyr)
|
rs1555569647
|
0.00001
|
|
NM_017534.6(MYH2):c.5564A>G (p.Glu1855Gly)
|
rs200726747
|
0.00001
|
|
NM_017534.6(MYH2):c.5566C>T (p.Leu1856Phe)
|
rs1488236141
|
0.00001
|
|
NM_017534.6(MYH2):c.5595G>A (p.Lys1865=)
|
rs1173455486
|
0.00001
|
|
NM_017534.6(MYH2):c.5598T>C (p.Asn1866=)
|
rs764826645
|
0.00001
|
|
NM_017534.6(MYH2):c.5607G>C (p.Arg1869Ser)
|
rs370387304
|
0.00001
|
|
NM_017534.6(MYH2):c.5667G>A (p.Glu1889=)
|
rs1335303103
|
0.00001
|
|
NM_017534.6(MYH2):c.5707C>T (p.Arg1903Cys)
|
rs777766586
|
0.00001
|
|
NM_017534.6(MYH2):c.571C>T (p.Arg191Cys)
|
rs770369215
|
0.00001
|
|
NM_017534.6(MYH2):c.572G>A (p.Arg191His)
|
rs778659452
|
0.00001
|
|
NM_017534.6(MYH2):c.5736C>T (p.Ala1912=)
|
rs755267432
|
0.00001
|
|
NM_017534.6(MYH2):c.5737G>A (p.Glu1913Lys)
|
rs1350545511
|
0.00001
|
|
NM_017534.6(MYH2):c.5748T>C (p.Ala1916=)
|
rs1028373681
|
0.00001
|
|
NM_017534.6(MYH2):c.5765A>G (p.Gln1922Arg)
|
rs1350620712
|
0.00001
|
|
NM_017534.6(MYH2):c.5772C>T (p.Asn1924=)
|
rs757669070
|
0.00001
|
|
NM_017534.6(MYH2):c.5777T>G (p.Leu1926Arg)
|
rs756130400
|
0.00001
|
|
NM_017534.6(MYH2):c.5786A>G (p.Lys1929Arg)
|
rs1197611302
|
0.00001
|
|
NM_017534.6(MYH2):c.5792G>A (p.Arg1931Gln)
|
rs763107075
|
0.00001
|
|
NM_017534.6(MYH2):c.620A>T (p.Lys207Met)
|
rs373306322
|
0.00001
|
|
NM_017534.6(MYH2):c.648+10A>C
|
rs754960434
|
0.00001
|
|
NM_017534.6(MYH2):c.648+20T>A
|
rs763440976
|
0.00001
|
|
NM_017534.6(MYH2):c.649-20G>C
|
rs372967647
|
0.00001
|
|
NM_017534.6(MYH2):c.649G>A (p.Gly217Arg)
|
rs1204821136
|
0.00001
|
|
NM_017534.6(MYH2):c.688C>T (p.Leu230=)
|
rs375063863
|
0.00001
|
|
NM_017534.6(MYH2):c.737G>A (p.Arg246His)
|
rs773713563
|
0.00001
|
|
NM_017534.6(MYH2):c.814G>C (p.Glu272Gln)
|
rs2073575845
|
0.00001
|
|
NM_017534.6(MYH2):c.881C>T (p.Ser294Leu)
|
rs2073575109
|
0.00001
|
|
NM_017534.6(MYH2):c.978C>T (p.Ile326=)
|
rs1001051198
|
0.00001
|
|
NM_017534.6(MYH2):c.986A>G (p.Gln329Arg)
|
rs1023760701
|
0.00001
|
|
NM_020451.3(SELENON):c.1023G>A (p.Val341=)
|
rs755437940
|
0.00001
|
|
NM_020451.3(SELENON):c.1055G>A (p.Ser352Asn)
|
rs749342493
|
0.00001
|
|
NM_020451.3(SELENON):c.1092+7G>A
|
rs367908571
|
0.00001
|
|
NM_020451.3(SELENON):c.1162A>G (p.Ser388Gly)
|
rs562843129
|
0.00001
|
|
NM_020451.3(SELENON):c.1209dup (p.Lys404fs)
|
rs745715484
|
0.00001
|
|
NM_020451.3(SELENON):c.1243G>A (p.Ala415Thr)
|
rs953899916
|
0.00001
|
|
NM_020451.3(SELENON):c.1246C>T (p.Arg416Trp)
|
rs369207232
|
0.00001
|
|
NM_020451.3(SELENON):c.1281+15G>T
|
rs886038657
|
0.00001
|
|
NM_020451.3(SELENON):c.1281+15_1281+25dup
|
rs1402844279
|
0.00001
|
|
NM_020451.3(SELENON):c.1311C>T (p.Phe437=)
|
rs752908428
|
0.00001
|
|
NM_020451.3(SELENON):c.1337T>C (p.Leu446Pro)
|
rs1257737257
|
0.00001
|
|
NM_020451.3(SELENON):c.1348A>G (p.Ile450Val)
|
rs1472493197
|
0.00001
|
|
NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter)
|
rs760063405
|
0.00001
|
|
NM_020451.3(SELENON):c.1378T>C (p.Ser460Pro)
|
rs1227306514
|
0.00001
|
|
NM_020451.3(SELENON):c.1387+6G>A
|
rs1318995344
|
0.00001
|
|
NM_020451.3(SELENON):c.1388-7dup
|
rs760765615
|
0.00001
|
|
NM_020451.3(SELENON):c.1388-8C>G
|
rs1366973759
|
0.00001
|
|
NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp)
|
rs752156505
|
0.00001
|
|
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp)
|
rs756927098
|
0.00001
|
|
NM_020451.3(SELENON):c.1421A>G (p.Glu474Gly)
|
rs772460886
|
0.00001
|
|
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter)
|
rs960468382
|
0.00001
|
|
NM_020451.3(SELENON):c.1495C>G (p.Leu499Val)
|
rs760671117
|
0.00001
|
|
NM_020451.3(SELENON):c.1498C>G (p.Gln500Glu)
|
rs763724398
|
0.00001
|
|
NM_020451.3(SELENON):c.1500+6C>T
|
rs1245353353
|
0.00001
|
|
NM_020451.3(SELENON):c.1501-1G>A
|
rs750138587
|
0.00001
|
|
NM_020451.3(SELENON):c.1518G>A (p.Ser506=)
|
rs751872810
|
0.00001
|
|
NM_020451.3(SELENON):c.1566C>T (p.Pro522=)
|
rs768563944
|
0.00001
|
|
NM_020451.3(SELENON):c.1607A>G (p.His536Arg)
|
rs758653293
|
0.00001
|
|
NM_020451.3(SELENON):c.1620C>T (p.Ala540=)
|
rs1421548273
|
0.00001
|
|
NM_020451.3(SELENON):c.1663G>A (p.Glu555Lys)
|
rs1187861214
|
0.00001
|
|
NM_020451.3(SELENON):c.1735G>A (p.Glu579Lys)
|
rs765368764
|
0.00001
|
|
NM_020451.3(SELENON):c.1748G>A (p.Arg583His)
|
rs771563318
|
0.00001
|
|
NM_020451.3(SELENON):c.1765C>T (p.Gln589Ter)
|
rs374398346
|
0.00001
|
|
NM_020451.3(SELENON):c.176C>A (p.Ala59Glu)
|
rs970390100
|
0.00001
|
|
NM_020451.3(SELENON):c.205G>C (p.Gly69Arg)
|
rs779935621
|
0.00001
|
|
NM_020451.3(SELENON):c.206G>A (p.Gly69Glu)
|
rs746738124
|
0.00001
|
|
NM_020451.3(SELENON):c.216C>T (p.Gly72=)
|
rs747665368
|
0.00001
|
|
NM_020451.3(SELENON):c.28G>C (p.Gly10Arg)
|
rs1174797000
|
0.00001
|
|
NM_020451.3(SELENON):c.300del (p.Ser102fs)
|
rs1269951927
|
0.00001
|
|
NM_020451.3(SELENON):c.372G>A (p.Trp124Ter)
|
rs934913626
|
0.00001
|
|
NM_020451.3(SELENON):c.404-18G>A
|
rs376478982
|
0.00001
|
|
NM_020451.3(SELENON):c.414C>T (p.Pro138=)
|
rs374681184
|
0.00001
|
|
NM_020451.3(SELENON):c.468C>T (p.Leu156=)
|
rs368675892
|
0.00001
|
|
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)
|
rs778603129
|
0.00001
|
|
NM_020451.3(SELENON):c.482G>A (p.Arg161Gln)
|
rs765749301
|
0.00001
|
|
NM_020451.3(SELENON):c.521A>C (p.Lys174Thr)
|
rs770305372
|
0.00001
|
|
NM_020451.3(SELENON):c.537+16C>T
|
rs774621017
|
0.00001
|
|
NM_020451.3(SELENON):c.538-10C>T
|
rs1471184508
|
0.00001
|
|
NM_020451.3(SELENON):c.538-4C>G
|
rs201712329
|
0.00001
|
|
NM_020451.3(SELENON):c.558C>T (p.Ser186=)
|
rs374013102
|
0.00001
|
|
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)
|
rs775713184
|
0.00001
|
|
NM_020451.3(SELENON):c.579C>T (p.Ala193=)
|
rs760971636
|
0.00001
|
|
NM_020451.3(SELENON):c.581C>T (p.Ala194Val)
|
rs727504148
|
0.00001
|
|
NM_020451.3(SELENON):c.582C>T (p.Ala194=)
|
rs1420010957
|
0.00001
|
|
NM_020451.3(SELENON):c.608C>T (p.Thr203Ile)
|
rs755740382
|
0.00001
|
|
NM_020451.3(SELENON):c.610C>T (p.Arg204Cys)
|
rs754161311
|
0.00001
|
|
NM_020451.3(SELENON):c.611G>A (p.Arg204His)
|
rs757780272
|
0.00001
|
|
NM_020451.3(SELENON):c.657G>A (p.Glu219=)
|
rs760351206
|
0.00001
|
|
NM_020451.3(SELENON):c.675C>T (p.Pro225=)
|
rs757547235
|
0.00001
|
|
NM_020451.3(SELENON):c.684G>C (p.Leu228=)
|
rs750994601
|
0.00001
|
|
NM_020451.3(SELENON):c.693C>T (p.Phe231=)
|
rs903926749
|
0.00001
|
|
NM_020451.3(SELENON):c.715C>T (p.Arg239Cys)
|
rs749100423
|
0.00001
|
|
NM_020451.3(SELENON):c.730C>T (p.Pro244Ser)
|
rs775003175
|
0.00001
|
|
NM_020451.3(SELENON):c.748-6C>T
|
rs1300732555
|
0.00001
|
|
NM_020451.3(SELENON):c.748-9C>T
|
rs752180175
|
0.00001
|
|
NM_020451.3(SELENON):c.761G>A (p.Arg254Gln)
|
rs779808108
|
0.00001
|
|
NM_020451.3(SELENON):c.781C>T (p.Pro261Ser)
|
rs1270929673
|
0.00001
|
|
NM_020451.3(SELENON):c.784C>T (p.Arg262Trp)
|
rs746994841
|
0.00001
|
|
NM_020451.3(SELENON):c.793G>A (p.Val265Met)
|
rs1364075867
|
0.00001
|
|
NM_020451.3(SELENON):c.847G>A (p.Asp283Asn)
|
rs760149813
|
0.00001
|
|
NM_020451.3(SELENON):c.858C>T (p.Tyr286=)
|
rs760604264
|
0.00001
|
|
NM_020451.3(SELENON):c.871C>T (p.Arg291Trp)
|
rs757446463
|
0.00001
|
|
NM_020451.3(SELENON):c.872+7G>A
|
rs751318243
|
0.00001
|
|
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)
|
rs199564797
|
0.00001
|
|
NM_020451.3(SELENON):c.878A>G (p.His293Arg)
|
rs776738184
|
0.00001
|
|
NM_020451.3(SELENON):c.882C>T (p.Ala294=)
|
rs201631363
|
0.00001
|
|
NM_020451.3(SELENON):c.903G>A (p.Pro301=)
|
rs752634748
|
0.00001
|
|
NM_020451.3(SELENON):c.935A>G (p.Gln312Arg)
|
rs775897489
|
0.00001
|
|
NM_020451.3(SELENON):c.976G>A (p.Val326Ile)
|
rs764032922
|
0.00001
|
|
NM_020451.3(SELENON):c.979C>T (p.Arg327Cys)
|
rs753400008
|
0.00001
|
|
NM_020451.3(SELENON):c.982G>A (p.Asp328Asn)
|
rs771240009
|
0.00001
|
|
NM_032790.3(ORAI1):c.309-18C>T
|
rs781867634
|
0.00001
|
|
NM_032790.4(ORAI1):c.107A>T (p.Asp36Val)
|
rs1276920059
|
0.00001
|
|
NM_032790.4(ORAI1):c.138G>C (p.Pro46=)
|
rs1555322555
|
0.00001
|
|
NM_032790.4(ORAI1):c.147C>T (p.Ala49=)
|
rs1305999158
|
0.00001
|
|
NM_032790.4(ORAI1):c.152C>T (p.Thr51Ile)
|
rs553962719
|
0.00001
|
|
NM_032790.4(ORAI1):c.199A>C (p.Asn67His)
|
rs557887137
|
0.00001
|
|
NM_032790.4(ORAI1):c.207C>T (p.His69=)
|
rs1566466065
|
0.00001
|
|
NM_032790.4(ORAI1):c.212T>G (p.Met71Arg)
|
rs1286173837
|
0.00001
|
|
NM_032790.4(ORAI1):c.228G>C (p.Trp76Cys)
|
rs1555322589
|
0.00001
|
|
NM_032790.4(ORAI1):c.243G>A (p.Leu81=)
|
rs782500934
|
0.00001
|
|
NM_032790.4(ORAI1):c.340G>A (p.Asp114Asn)
|
rs782316353
|
0.00001
|
|
NM_032790.4(ORAI1):c.363C>T (p.Ile121=)
|
rs1893050404
|
0.00001
|
|
NM_032790.4(ORAI1):c.411G>A (p.Ala137=)
|
rs987522369
|
0.00001
|
|
NM_032790.4(ORAI1):c.42C>G (p.Pro14=)
|
rs1330700530
|
0.00001
|
|
NM_032790.4(ORAI1):c.450G>A (p.Ala150=)
|
rs782232478
|
0.00001
|
|
NM_032790.4(ORAI1):c.459C>T (p.Asn153=)
|
rs781980977
|
0.00001
|
|
NM_032790.4(ORAI1):c.462G>A (p.Val154=)
|
rs1555324096
|
0.00001
|
|
NM_032790.4(ORAI1):c.476C>T (p.Ser159Leu)
|
rs781929515
|
0.00001
|
|
NM_032790.4(ORAI1):c.508C>T (p.Arg170Cys)
|
rs559396531
|
0.00001
|
|
NM_032790.4(ORAI1):c.561C>T (p.Phe187=)
|
rs782419547
|
0.00001
|
|
NM_032790.4(ORAI1):c.606C>A (p.Leu202=)
|
rs1160906886
|
0.00001
|
|
NM_032790.4(ORAI1):c.628A>G (p.Arg210Gly)
|
rs1440863247
|
0.00001
|
|
NM_032790.4(ORAI1):c.649G>A (p.Ala217Thr)
|
rs782438034
|
0.00001
|
|
NM_032790.4(ORAI1):c.681C>T (p.Ser227=)
|
rs782091639
|
0.00001
|
|
NM_032790.4(ORAI1):c.712G>A (p.Ala238Thr)
|
rs782448303
|
0.00001
|
|
NM_032790.4(ORAI1):c.716C>T (p.Ser239Leu)
|
rs782580422
|
0.00001
|
|
NM_032790.4(ORAI1):c.72C>T (p.Thr24=)
|
rs1224617364
|
0.00001
|
|
NM_032790.4(ORAI1):c.739G>A (p.Gly247Ser)
|
rs782169524
|
0.00001
|
|
NM_032790.4(ORAI1):c.760G>A (p.Ala254Thr)
|
rs374711919
|
0.00001
|
|
NM_032790.4(ORAI1):c.776G>A (p.Arg259His)
|
rs781789915
|
0.00001
|
|
NM_032790.4(ORAI1):c.820A>C (p.Asn274His)
|
rs1311584085
|
0.00001
|
|
NM_032790.4(ORAI1):c.882G>C (p.Leu294=)
|
rs1442961151
|
0.00001
|
|
NM_032790.4(ORAI1):c.889G>A (p.Gly297Ser)
|
rs375464035
|
0.00001
|
|
NM_138638.5(CFL2):c.15T>C (p.Val5=)
|
rs542840152
|
0.00001
|
|
NM_138638.5(CFL2):c.17C>G (p.Thr6Arg)
|
rs758040099
|
0.00001
|
|
NM_138638.5(CFL2):c.198C>T (p.Asp66=)
|
rs75685384
|
0.00001
|
|
NM_138638.5(CFL2):c.255C>T (p.Tyr85=)
|
rs1057523939
|
0.00001
|
|
NM_138638.5(CFL2):c.276A>G (p.Lys92=)
|
rs1468647166
|
0.00001
|
|
NM_138638.5(CFL2):c.492A>G (p.Lys164=)
|
rs766364990
|
0.00001
|
|
NM_138638.5(CFL2):c.495A>G (p.Pro165=)
|
rs201619073
|
0.00001
|
|
NM_138638.5(CFL2):c.73A>G (p.Thr25Ala)
|
rs1004680147
|
0.00001
|
|
NM_139343.3(BIN1):c.1003-6C>A
|
rs1406716458
|
0.00001
|
|
NM_139343.3(BIN1):c.1029G>A (p.Pro343=)
|
rs1470654878
|
0.00001
|
|
NM_139343.3(BIN1):c.1046C>T (p.Pro349Leu)
|
rs775494528
|
0.00001
|
|
NM_139343.3(BIN1):c.1072A>G (p.Ile358Val)
|
rs1355424178
|
0.00001
|
|
NM_139343.3(BIN1):c.1075C>T (p.Leu359Phe)
|
rs965561469
|
0.00001
|
|
NM_139343.3(BIN1):c.1092C>T (p.Asp364=)
|
rs745647728
|
0.00001
|
|
NM_139343.3(BIN1):c.1094C>T (p.Thr365Met)
|
rs577812854
|
0.00001
|
|
NM_139343.3(BIN1):c.1095G>A (p.Thr365=)
|
rs1401448705
|
0.00001
|
|
NM_139343.3(BIN1):c.1113C>T (p.Ser371=)
|
rs757286408
|
0.00001
|
|
NM_139343.3(BIN1):c.1114G>A (p.Val372Met)
|
rs749198133
|
0.00001
|
|
NM_139343.3(BIN1):c.1119C>T (p.Thr373=)
|
rs1444368852
|
0.00001
|
|
NM_139343.3(BIN1):c.1156G>A (p.Glu386Lys)
|
rs1268978517
|
0.00001
|
|
NM_139343.3(BIN1):c.1188C>T (p.Asp396=)
|
rs1321356771
|
0.00001
|
|
NM_139343.3(BIN1):c.1198C>A (p.Pro400Thr)
|
rs769252326
|
0.00001
|
|
NM_139343.3(BIN1):c.1239+12C>T
|
rs1051734043
|
0.00001
|
|
NM_139343.3(BIN1):c.1240T>G (p.Ser414Ala)
|
rs777951748
|
0.00001
|
|
NM_139343.3(BIN1):c.1263+17C>T
|
rs569766405
|
0.00001
|
|
NM_139343.3(BIN1):c.1305C>T (p.Pro435=)
|
rs1202386291
|
0.00001
|
|
NM_139343.3(BIN1):c.1371+12C>T
|
rs1015206482
|
0.00001
|
|
NM_139343.3(BIN1):c.1372-7G>T
|
rs777558116
|
0.00001
|
|
NM_139343.3(BIN1):c.1403C>T (p.Thr468Ile)
|
rs769199881
|
0.00001
|
|
NM_139343.3(BIN1):c.141C>T (p.Cys47=)
|
rs747090652
|
0.00001
|
|
NM_139343.3(BIN1):c.1443G>A (p.Ala481=)
|
rs765816262
|
0.00001
|
|
NM_139343.3(BIN1):c.1461+1G>A
|
rs764951306
|
0.00001
|
|
NM_139343.3(BIN1):c.1461+6A>T
|
rs972060066
|
0.00001
|
|
NM_139343.3(BIN1):c.1516G>A (p.Val506Met)
|
rs371571307
|
0.00001
|
|
NM_139343.3(BIN1):c.1536C>T (p.Ala512=)
|
rs753612525
|
0.00001
|
|
NM_139343.3(BIN1):c.1537G>A (p.Gly513Arg)
|
rs777452575
|
0.00001
|
|
NM_139343.3(BIN1):c.1538G>A (p.Gly513Glu)
|
rs755351031
|
0.00001
|
|
NM_139343.3(BIN1):c.1545G>T (p.Leu515Phe)
|
rs763458588
|
0.00001
|
|
NM_139343.3(BIN1):c.1558G>C (p.Gly520Arg)
|
rs765354438
|
0.00001
|
|
NM_139343.3(BIN1):c.155A>G (p.Asn52Ser)
|
rs369549551
|
0.00001
|
|
NM_139343.3(BIN1):c.1608A>G (p.Thr536=)
|
rs746208232
|
0.00001
|
|
NM_139343.3(BIN1):c.1632T>G (p.Gly544=)
|
rs937564049
|
0.00001
|
|
NM_139343.3(BIN1):c.165+6T>C
|
rs763931802
|
0.00001
|
|
NM_139343.3(BIN1):c.166-13C>T
|
rs1182776886
|
0.00001
|
|
NM_139343.3(BIN1):c.1670A>T (p.Glu557Val)
|
rs774321875
|
0.00001
|
|
NM_139343.3(BIN1):c.1675-7C>T
|
rs372449622
|
0.00001
|
|
NM_139343.3(BIN1):c.1691T>C (p.Met564Thr)
|
rs1682474004
|
0.00001
|
|
NM_139343.3(BIN1):c.1696G>A (p.Val566Met)
|
rs761759946
|
0.00001
|
|
NM_139343.3(BIN1):c.1698G>A (p.Val566=)
|
rs1398854153
|
0.00001
|
|
NM_139343.3(BIN1):c.1747G>A (p.Val583Ile)
|
rs759691190
|
0.00001
|
|
NM_139343.3(BIN1):c.1751T>C (p.Phe584Ser)
|
rs1466748456
|
0.00001
|
|
NM_139343.3(BIN1):c.221-8C>T
|
rs750040017
|
0.00001
|
|
NM_139343.3(BIN1):c.228C>T (p.His76=)
|
rs754621895
|
0.00001
|
|
NM_139343.3(BIN1):c.276C>T (p.Pro92=)
|
rs1013293394
|
0.00001
|
|
NM_139343.3(BIN1):c.322G>A (p.Asp108Asn)
|
rs532260569
|
0.00001
|
|
NM_139343.3(BIN1):c.405C>T (p.Asp135=)
|
rs956631103
|
0.00001
|
|
NM_139343.3(BIN1):c.416G>A (p.Arg139His)
|
rs755355125
|
0.00001
|
|
NM_139343.3(BIN1):c.434G>A (p.Arg145His)
|
rs1219115067
|
0.00001
|
|
NM_139343.3(BIN1):c.472G>A (p.Glu158Lys)
|
rs764377144
|
0.00001
|
|
NM_139343.3(BIN1):c.519+4A>G
|
rs1429919147
|
0.00001
|
|
NM_139343.3(BIN1):c.520-3C>A
|
rs1455432609
|
0.00001
|
|
NM_139343.3(BIN1):c.527C>T (p.Ser176Leu)
|
rs776075897
|
0.00001
|
|
NM_139343.3(BIN1):c.546C>T (p.Ala182=)
|
rs147149003
|
0.00001
|
|
NM_139343.3(BIN1):c.550C>G (p.Gln184Glu)
|
rs777940512
|
0.00001
|
|
NM_139343.3(BIN1):c.570G>T (p.Leu190=)
|
rs767620839
|
0.00001
|
|
NM_139343.3(BIN1):c.57G>C (p.Gln19His)
|
rs142657993
|
0.00001
|
|
NM_139343.3(BIN1):c.582C>T (p.Leu194=)
|
rs1319287534
|
0.00001
|
|
NM_139343.3(BIN1):c.604C>T (p.Arg202Ter)
|
rs762897872
|
0.00001
|
|
NM_139343.3(BIN1):c.613-5C>G
|
rs1408065039
|
0.00001
|
|
NM_139343.3(BIN1):c.684G>A (p.Pro228=)
|
rs778962397
|
0.00001
|
|
NM_139343.3(BIN1):c.698+14C>T
|
rs376710764
|
0.00001
|
|
NM_139343.3(BIN1):c.698+15G>A
|
rs535176915
|
0.00001
|
|
NM_139343.3(BIN1):c.699-4G>A
|
rs1389764447
|
0.00001
|
|
NM_139343.3(BIN1):c.699-5T>C
|
rs1573608578
|
0.00001
|
|
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)
|
rs777176261
|
0.00001
|
|
NM_139343.3(BIN1):c.702C>T (p.Arg234=)
|
rs775573748
|
0.00001
|
|
NM_139343.3(BIN1):c.730A>G (p.Ser244Gly)
|
rs777898974
|
0.00001
|
|
NM_139343.3(BIN1):c.738G>A (p.Ala246=)
|
rs751182086
|
0.00001
|
|
NM_139343.3(BIN1):c.767T>C (p.Met256Thr)
|
rs975404965
|
0.00001
|
|
NM_139343.3(BIN1):c.774+10G>A
|
rs1684774289
|
0.00001
|
|
NM_139343.3(BIN1):c.774+13G>A
|
rs767512096
|
0.00001
|
|
NM_139343.3(BIN1):c.774+9dup
|
rs1196593252
|
0.00001
|
|
NM_139343.3(BIN1):c.784A>C (p.Asn262His)
|
rs1331854784
|
0.00001
|
|
NM_139343.3(BIN1):c.804C>T (p.Val268=)
|
rs761683510
|
0.00001
|
|
NM_139343.3(BIN1):c.84+1G>A
|
rs1364583460
|
0.00001
|
|
NM_139343.3(BIN1):c.85-14C>T
|
rs1191884719
|
0.00001
|
|
NM_139343.3(BIN1):c.85-5G>A
|
rs371593265
|
0.00001
|
|
NM_139343.3(BIN1):c.864C>T (p.Asn288=)
|
rs746393271
|
0.00001
|
|
NM_139343.3(BIN1):c.887G>A (p.Ser296Asn)
|
rs1490772170
|
0.00001
|
|
NM_139343.3(BIN1):c.889C>A (p.Pro297Thr)
|
rs1160778854
|
0.00001
|
|
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu)
|
rs754707833
|
0.00001
|
|
NM_139343.3(BIN1):c.946C>T (p.Pro316Ser)
|
rs748381039
|
0.00001
|
|
NM_139343.3(BIN1):c.952C>T (p.Pro318Ser)
|
rs781377841
|
0.00001
|
|
NM_139343.3(BIN1):c.967A>T (p.Thr323Ser)
|
rs753614814
|
0.00001
|
|
NM_139343.3(BIN1):c.975G>A (p.Gly325=)
|
rs771288492
|
0.00001
|
|
NM_145064.3(STAC3):c.1029C>T (p.Gly343=)
|
rs774228368
|
0.00001
|
|
NM_145064.3(STAC3):c.129C>G (p.Pro43=)
|
rs1398254145
|
0.00001
|
|
NM_145064.3(STAC3):c.170G>T (p.Gly57Val)
|
rs1027548586
|
0.00001
|
|
NM_145064.3(STAC3):c.187A>G (p.Ile63Val)
|
rs772643404
|
0.00001
|
|
NM_145064.3(STAC3):c.259G>A (p.Asp87Asn)
|
rs776406787
|
0.00001
|
|
NM_145064.3(STAC3):c.280G>A (p.Asp94Asn)
|
rs368386121
|
0.00001
|
|
NM_145064.3(STAC3):c.334+9T>C
|
rs750254286
|
0.00001
|
|
NM_145064.3(STAC3):c.339C>A (p.Asn113Lys)
|
rs763684159
|
0.00001
|
|
NM_145064.3(STAC3):c.393_395dup (p.Cys131_Gln132insHis)
|
rs765764018
|
0.00001
|
|
NM_145064.3(STAC3):c.402T>C (p.Tyr134=)
|
rs745917824
|
0.00001
|
|
NM_145064.3(STAC3):c.436C>G (p.Pro146Ala)
|
rs754562509
|
0.00001
|
|
NM_145064.3(STAC3):c.441T>C (p.Gly147=)
|
rs757838723
|
0.00001
|
|
NM_145064.3(STAC3):c.505+14A>G
|
rs1414034335
|
0.00001
|
|
NM_145064.3(STAC3):c.505+7G>A
|
rs776356329
|
0.00001
|
|
NM_145064.3(STAC3):c.505+9C>T
|
rs1565782506
|
0.00001
|
|
NM_145064.3(STAC3):c.506-15C>T
|
rs2037754910
|
0.00001
|
|
NM_145064.3(STAC3):c.517C>T (p.Arg173Cys)
|
rs1404488985
|
0.00001
|
|
NM_145064.3(STAC3):c.521A>G (p.Asn174Ser)
|
rs1038718298
|
0.00001
|
|
NM_145064.3(STAC3):c.574C>T (p.Arg192Trp)
|
rs1202021365
|
0.00001
|
|
NM_145064.3(STAC3):c.630G>T (p.Glu210Asp)
|
rs758788446
|
0.00001
|
|
NM_145064.3(STAC3):c.66+19C>T
|
rs2037850910
|
0.00001
|
|
NM_145064.3(STAC3):c.663C>T (p.Pro221=)
|
rs368118525
|
0.00001
|
|
NM_145064.3(STAC3):c.670+3del
|
rs1236144994
|
0.00001
|
|
NM_145064.3(STAC3):c.671-20G>A
|
rs777886823
|
0.00001
|
|
NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)
|
rs1202215410
|
0.00001
|
|
NM_145064.3(STAC3):c.774C>G (p.Phe258Leu)
|
rs922499167
|
0.00001
|
|
NM_145064.3(STAC3):c.859-18C>G
|
rs936965730
|
0.00001
|
|
NM_145064.3(STAC3):c.879C>A (p.Val293=)
|
rs367701062
|
0.00001
|
|
NM_145064.3(STAC3):c.963C>T (p.Arg321=)
|
rs988981364
|
0.00001
|
|
NM_152263.4(TPM3):c.172C>T (p.Leu58=)
|
rs997905094
|
0.00001
|
|
NM_152263.4(TPM3):c.210G>A (p.Glu70=)
|
rs767668245
|
0.00001
|
|
NM_152263.4(TPM3):c.228G>A (p.Glu76=)
|
rs765071258
|
0.00001
|
|
NM_152263.4(TPM3):c.246T>C (p.Ala82=)
|
rs751578993
|
0.00001
|
|
NM_152263.4(TPM3):c.339G>A (p.Lys113=)
|
rs548951753
|
0.00001
|
|
NM_152263.4(TPM3):c.340C>T (p.Leu114=)
|
rs760913266
|
0.00001
|
|
NM_152263.4(TPM3):c.483G>A (p.Arg161=)
|
rs150586027
|
0.00001
|
|
NM_152263.4(TPM3):c.546A>G (p.Glu182=)
|
rs762856025
|
0.00001
|
|
NM_152263.4(TPM3):c.567-4A>C
|
rs199517163
|
0.00001
|
|
NM_152263.4(TPM3):c.615C>G (p.Leu205=)
|
rs1131561
|
0.00001
|
|
NM_152263.4(TPM3):c.642+4G>T
|
rs1462764945
|
0.00001
|
|
NM_152263.4(TPM3):c.643-3C>T
|
rs529845435
|
0.00001
|
|
NM_152263.4(TPM3):c.65G>A (p.Arg22Gln)
|
rs1553251640
|
0.00001
|
|
NM_152263.4(TPM3):c.680A>G (p.Lys227Arg)
|
rs201202440
|
0.00001
|
|
NM_152263.4(TPM3):c.705+19T>C
|
rs765448962
|
0.00001
|
|
NM_152263.4(TPM3):c.761T>C (p.Ile254Thr)
|
rs761036509
|
0.00001
|
|
NM_152263.4(TPM3):c.776-8C>T
|
rs760834004
|
0.00001
|
|
NM_152263.4(TPM3):c.788C>G (p.Ala263Gly)
|
rs1455676920
|
0.00001
|
|
NM_152263.4(TPM3):c.816C>G (p.Ser272Arg)
|
rs536564074
|
0.00001
|
|
NM_152263.4(TPM3):c.816C>T (p.Ser272=)
|
rs536564074
|
0.00001
|
|
NM_152263.4(TPM3):c.829C>A (p.His277Asn)
|
rs747794605
|
0.00001
|
|
NM_152263.4(TPM3):c.832G>A (p.Ala278Thr)
|
rs377438824
|
0.00001
|
|
NM_152263.4(TPM3):c.835C>G (p.Leu279Val)
|
rs186253666
|
0.00001
|
|
NM_152263.4(TPM3):c.844A>G (p.Met282Val)
|
rs1661325667
|
0.00001
|
|
NM_152263.4(TPM3):c.849C>T (p.Thr283=)
|
rs758366885
|
0.00001
|
|
NM_152263.4(TPM3):c.853A>G (p.Ile285Val)
|
rs758557977
|
0.00001
|
|
NM_152263.4(TPM3):c.854+20G>A
|
rs1300002756
|
0.00001
|
|
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)
|
rs199474720
|
0.00001
|
|
NM_152393.4(KLHL40):c.100G>C (p.Asp34His)
|
rs778565563
|
0.00001
|
|
NM_152393.4(KLHL40):c.1019G>C (p.Cys340Ser)
|
rs758244161
|
0.00001
|
|
NM_152393.4(KLHL40):c.105T>C (p.Cys35=)
|
rs1227493178
|
0.00001
|
|
NM_152393.4(KLHL40):c.1097G>A (p.Gly366Asp)
|
rs952832025
|
0.00001
|
|
NM_152393.4(KLHL40):c.1149G>C (p.Leu383=)
|
rs924226686
|
0.00001
|
|
NM_152393.4(KLHL40):c.1152+4C>T
|
rs1553680497
|
0.00001
|
|
NM_152393.4(KLHL40):c.1161T>C (p.His387=)
|
rs1269269565
|
0.00001
|
|
NM_152393.4(KLHL40):c.1191G>A (p.Pro397=)
|
rs749787457
|
0.00001
|
|
NM_152393.4(KLHL40):c.1196C>T (p.Pro399Leu)
|
rs770413516
|
0.00001
|
|
NM_152393.4(KLHL40):c.1197C>T (p.Pro399=)
|
rs773889729
|
0.00001
|
|
NM_152393.4(KLHL40):c.1200G>A (p.Ser400=)
|
rs759134022
|
0.00001
|
|
NM_152393.4(KLHL40):c.1246G>A (p.Val416Met)
|
rs759198473
|
0.00001
|
|
NM_152393.4(KLHL40):c.1276G>A (p.Glu426Lys)
|
rs760403231
|
0.00001
|
|
NM_152393.4(KLHL40):c.1305C>T (p.Tyr435=)
|
rs573886282
|
0.00001
|
|
NM_152393.4(KLHL40):c.1312C>T (p.Leu438=)
|
rs200589852
|
0.00001
|
|
NM_152393.4(KLHL40):c.1314-11G>A
|
rs760691315
|
0.00001
|
|
NM_152393.4(KLHL40):c.1314-13C>T
|
rs572795836
|
0.00001
|
|
NM_152393.4(KLHL40):c.1334C>T (p.Ser445Leu)
|
rs375891897
|
0.00001
|
|
NM_152393.4(KLHL40):c.1345C>T (p.Pro449Ser)
|
rs1194342086
|
0.00001
|
|
NM_152393.4(KLHL40):c.1350C>T (p.Tyr450=)
|
rs1486566170
|
0.00001
|
|
NM_152393.4(KLHL40):c.1356G>A (p.Val452=)
|
rs147355548
|
0.00001
|
|
NM_152393.4(KLHL40):c.1381A>G (p.Met461Val)
|
rs776547008
|
0.00001
|
|
NM_152393.4(KLHL40):c.1395C>T (p.Tyr465=)
|
rs139588377
|
0.00001
|
|
NM_152393.4(KLHL40):c.1396G>A (p.Val466Ile)
|
rs773720799
|
0.00001
|
|
NM_152393.4(KLHL40):c.1401T>C (p.Ile467=)
|
rs1404197060
|
0.00001
|
|
NM_152393.4(KLHL40):c.1421+1G>T
|
rs1186218257
|
0.00001
|
|
NM_152393.4(KLHL40):c.1422-5C>T
|
rs778697765
|
0.00001
|
|
NM_152393.4(KLHL40):c.1498C>T (p.Arg500Cys)
|
rs758188096
|
0.00001
|
|
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys)
|
rs397509419
|
0.00001
|
|
NM_152393.4(KLHL40):c.1614A>G (p.Ala538=)
|
rs1462670324
|
0.00001
|
|
NM_152393.4(KLHL40):c.1615C>T (p.Pro539Ser)
|
rs758550223
|
0.00001
|
|
NM_152393.4(KLHL40):c.1616C>T (p.Pro539Leu)
|
rs780261738
|
0.00001
|
|
NM_152393.4(KLHL40):c.1652G>A (p.Ser551Asn)
|
rs373194829
|
0.00001
|
|
NM_152393.4(KLHL40):c.1673C>A (p.Thr558Asn)
|
rs775375049
|
0.00001
|
|
NM_152393.4(KLHL40):c.1735G>A (p.Glu579Lys)
|
rs756584441
|
0.00001
|
|
NM_152393.4(KLHL40):c.1737G>A (p.Glu579=)
|
rs1420650513
|
0.00001
|
|
NM_152393.4(KLHL40):c.1800C>T (p.Ile600=)
|
rs765778662
|
0.00001
|
|
NM_152393.4(KLHL40):c.1806T>C (p.Tyr602=)
|
rs758044696
|
0.00001
|
|
NM_152393.4(KLHL40):c.1810G>T (p.Ala604Ser)
|
rs1274671626
|
0.00001
|
|
NM_152393.4(KLHL40):c.1825C>T (p.Leu609=)
|
rs200908056
|
0.00001
|
|
NM_152393.4(KLHL40):c.1844T>C (p.Val615Ala)
|
rs1383540575
|
0.00001
|
|
NM_152393.4(KLHL40):c.193G>A (p.Glu65Lys)
|
rs779869498
|
0.00001
|
|
NM_152393.4(KLHL40):c.207G>A (p.Ala69=)
|
rs776029089
|
0.00001
|
|
NM_152393.4(KLHL40):c.211G>A (p.Glu71Lys)
|
rs375331819
|
0.00001
|
|
NM_152393.4(KLHL40):c.225G>A (p.Glu75=)
|
rs764839928
|
0.00001
|
|
NM_152393.4(KLHL40):c.231G>A (p.Val77=)
|
rs1424119243
|
0.00001
|
|
NM_152393.4(KLHL40):c.248C>G (p.Ala83Gly)
|
rs1246685748
|
0.00001
|
|
NM_152393.4(KLHL40):c.251A>G (p.Gln84Arg)
|
rs780835485
|
0.00001
|
|
NM_152393.4(KLHL40):c.296C>T (p.Ala99Val)
|
rs915743218
|
0.00001
|
|
NM_152393.4(KLHL40):c.300C>A (p.Ser100Arg)
|
rs765609919
|
0.00001
|
|
NM_152393.4(KLHL40):c.341C>T (p.Pro114Leu)
|
rs1333354759
|
0.00001
|
|
NM_152393.4(KLHL40):c.344C>T (p.Ser115Phe)
|
rs371748730
|
0.00001
|
|
NM_152393.4(KLHL40):c.385T>G (p.Cys129Gly)
|
rs765939784
|
0.00001
|
|
NM_152393.4(KLHL40):c.386G>C (p.Cys129Ser)
|
rs751036389
|
0.00001
|
|
NM_152393.4(KLHL40):c.395A>G (p.Asn132Ser)
|
rs767039942
|
0.00001
|
|
NM_152393.4(KLHL40):c.416T>C (p.Leu139Pro)
|
rs1328688864
|
0.00001
|
|
NM_152393.4(KLHL40):c.427C>T (p.Leu143Phe)
|
rs780332509
|
0.00001
|
|
NM_152393.4(KLHL40):c.430G>C (p.Asp144His)
|
rs374038735
|
0.00001
|
|
NM_152393.4(KLHL40):c.472G>T (p.Ala158Ser)
|
rs562925616
|
0.00001
|
|
NM_152393.4(KLHL40):c.523G>A (p.Asp175Asn)
|
rs771551921
|
0.00001
|
|
NM_152393.4(KLHL40):c.549C>T (p.Ser183=)
|
rs138171438
|
0.00001
|
|
NM_152393.4(KLHL40):c.553G>C (p.Gly185Arg)
|
rs921432594
|
0.00001
|
|
NM_152393.4(KLHL40):c.557T>A (p.Leu186His)
|
rs777496833
|
0.00001
|
|
NM_152393.4(KLHL40):c.610A>G (p.Ser204Gly)
|
rs560260717
|
0.00001
|
|
NM_152393.4(KLHL40):c.611G>A (p.Ser204Asn)
|
rs879858391
|
0.00001
|
|
NM_152393.4(KLHL40):c.619G>A (p.Ala207Thr)
|
rs1479459996
|
0.00001
|
|
NM_152393.4(KLHL40):c.621C>G (p.Ala207=)
|
rs761540320
|
0.00001
|
|
NM_152393.4(KLHL40):c.63C>T (p.Asp21=)
|
rs759340232
|
0.00001
|
|
NM_152393.4(KLHL40):c.657C>T (p.Thr219=)
|
rs1055071083
|
0.00001
|
|
NM_152393.4(KLHL40):c.710G>A (p.Arg237His)
|
rs1697272315
|
0.00001
|
|
NM_152393.4(KLHL40):c.712G>A (p.Val238Met)
|
rs1478443086
|
0.00001
|
|
NM_152393.4(KLHL40):c.724C>G (p.Pro242Ala)
|
rs1312120521
|
0.00001
|
|
NM_152393.4(KLHL40):c.726T>A (p.Pro242=)
|
rs1358830095
|
0.00001
|
|
NM_152393.4(KLHL40):c.738C>A (p.Ala246=)
|
rs1400527780
|
0.00001
|
|
NM_152393.4(KLHL40):c.752T>A (p.Leu251Gln)
|
rs928500134
|
0.00001
|
|
NM_152393.4(KLHL40):c.759G>C (p.Lys253Asn)
|
rs370186438
|
0.00001
|
|
NM_152393.4(KLHL40):c.81G>A (p.Leu27=)
|
rs1437347386
|
0.00001
|
|
NM_152393.4(KLHL40):c.864C>T (p.Ser288=)
|
rs374925596
|
0.00001
|
|
NM_152393.4(KLHL40):c.86A>G (p.His29Arg)
|
rs375788187
|
0.00001
|
|
NM_152393.4(KLHL40):c.876A>C (p.Ala292=)
|
rs755562914
|
0.00001
|
|
NM_152393.4(KLHL40):c.885T>G (p.Asp295Glu)
|
rs1229392663
|
0.00001
|
|
NM_152393.4(KLHL40):c.906T>C (p.Leu302=)
|
rs772005109
|
0.00001
|
|
NM_152393.4(KLHL40):c.912G>A (p.Gly304=)
|
rs775345089
|
0.00001
|
|
NM_152393.4(KLHL40):c.921T>G (p.Asn307Lys)
|
rs746903692
|
0.00001
|
|
NM_152393.4(KLHL40):c.928C>T (p.Leu310=)
|
rs554767539
|
0.00001
|
|
NM_152393.4(KLHL40):c.99C>T (p.Leu33=)
|
rs567980135
|
0.00001
|
|
NM_198271.5(LMOD3):c.1031G>A (p.Arg344Gln)
|
rs558303713
|
0.00001
|
|
NM_198271.5(LMOD3):c.1061A>G (p.His354Arg)
|
rs1217215656
|
0.00001
|
|
NM_198271.5(LMOD3):c.1095G>A (p.Lys365=)
|
rs185537696
|
0.00001
|
|
NM_198271.5(LMOD3):c.1152G>A (p.Met384Ile)
|
rs1424776785
|
0.00001
|
|
NM_198271.5(LMOD3):c.1201C>T (p.Arg401Ter)
|
rs724159964
|
0.00001
|
|
NM_198271.5(LMOD3):c.1213C>G (p.Gln405Glu)
|
rs920889036
|
0.00001
|
|
NM_198271.5(LMOD3):c.1235A>G (p.Glu412Gly)
|
rs962387541
|
0.00001
|
|
NM_198271.5(LMOD3):c.1246C>T (p.Leu416=)
|
rs1440827868
|
0.00001
|
|
NM_198271.5(LMOD3):c.1294G>A (p.Glu432Lys)
|
rs1239339268
|
0.00001
|
|
NM_198271.5(LMOD3):c.1298T>A (p.Leu433Gln)
|
rs371262604
|
0.00001
|
|
NM_198271.5(LMOD3):c.1355C>T (p.Pro452Leu)
|
rs750436069
|
0.00001
|
|
NM_198271.5(LMOD3):c.1370C>T (p.Pro457Leu)
|
rs1323958359
|
0.00001
|
|
NM_198271.5(LMOD3):c.1377T>C (p.Asn459=)
|
rs371736714
|
0.00001
|
|
NM_198271.5(LMOD3):c.1397G>A (p.Ser466Asn)
|
rs768340380
|
0.00001
|
|
NM_198271.5(LMOD3):c.1427C>T (p.Pro476Leu)
|
rs751389222
|
0.00001
|
|
NM_198271.5(LMOD3):c.142C>G (p.Leu48Val)
|
rs777262094
|
0.00001
|
|
NM_198271.5(LMOD3):c.1441G>A (p.Asp481Asn)
|
rs750502860
|
0.00001
|
|
NM_198271.5(LMOD3):c.1460T>C (p.Val487Ala)
|
rs745318870
|
0.00001
|
|
NM_198271.5(LMOD3):c.1468C>A (p.Leu490Met)
|
rs375665119
|
0.00001
|
|
NM_198271.5(LMOD3):c.1473_1475del (p.Arg492del)
|
rs752216316
|
0.00001
|
|
NM_198271.5(LMOD3):c.1484G>A (p.Arg495His)
|
rs780071005
|
0.00001
|
|
NM_198271.5(LMOD3):c.1488A>G (p.Lys496=)
|
rs756341632
|
0.00001
|
|
NM_198271.5(LMOD3):c.1507A>G (p.Arg503Gly)
|
rs764972614
|
0.00001
|
|
NM_198271.5(LMOD3):c.1544T>A (p.Ile515Asn)
|
rs747837263
|
0.00001
|
|
NM_198271.5(LMOD3):c.1558C>G (p.Pro520Ala)
|
rs764451589
|
0.00001
|
|
NM_198271.5(LMOD3):c.155T>C (p.Met52Thr)
|
rs1252489316
|
0.00001
|
|
NM_198271.5(LMOD3):c.1579C>T (p.Pro527Ser)
|
rs373480967
|
0.00001
|
|
NM_198271.5(LMOD3):c.1628G>A (p.Arg543His)
|
rs199655993
|
0.00001
|
|
NM_198271.5(LMOD3):c.1656+1G>C
|
rs1306800094
|
0.00001
|
|
NM_198271.5(LMOD3):c.1657G>A (p.Val553Met)
|
rs762946989
|
0.00001
|
|
NM_198271.5(LMOD3):c.166G>A (p.Asp56Asn)
|
rs1469953832
|
0.00001
|
|
NM_198271.5(LMOD3):c.1681T>C (p.Ter561Gln)
|
rs749851437
|
0.00001
|
|
NM_198271.5(LMOD3):c.266G>A (p.Arg89Gln)
|
rs771330798
|
0.00001
|
|
NM_198271.5(LMOD3):c.295-5T>C
|
rs747449404
|
0.00001
|
|
NM_198271.5(LMOD3):c.296A>G (p.Glu99Gly)
|
rs1258289949
|
0.00001
|
|
NM_198271.5(LMOD3):c.321A>G (p.Glu107=)
|
rs754611563
|
0.00001
|
|
NM_198271.5(LMOD3):c.366G>T (p.Lys122Asn)
|
rs759804680
|
0.00001
|
|
NM_198271.5(LMOD3):c.392A>G (p.Lys131Arg)
|
rs779719094
|
0.00001
|
|
NM_198271.5(LMOD3):c.400T>G (p.Ser134Ala)
|
rs1283065889
|
0.00001
|
|
NM_198271.5(LMOD3):c.463G>A (p.Asp155Asn)
|
rs767649855
|
0.00001
|
|
NM_198271.5(LMOD3):c.464A>G (p.Asp155Gly)
|
rs2092399198
|
0.00001
|
|
NM_198271.5(LMOD3):c.472G>A (p.Glu158Lys)
|
rs988718606
|
0.00001
|
|
NM_198271.5(LMOD3):c.484G>A (p.Asp162Asn)
|
rs551988491
|
0.00001
|
|
NM_198271.5(LMOD3):c.495G>C (p.Glu165Asp)
|
rs1488501537
|
0.00001
|
|
NM_198271.5(LMOD3):c.510C>G (p.Asn170Lys)
|
rs1280888308
|
0.00001
|
|
NM_198271.5(LMOD3):c.522A>G (p.Glu174=)
|
rs777811015
|
0.00001
|
|
NM_198271.5(LMOD3):c.52A>G (p.Ile18Val)
|
rs1165265351
|
0.00001
|
|
NM_198271.5(LMOD3):c.54T>C (p.Ile18=)
|
rs1311578143
|
0.00001
|
|
NM_198271.5(LMOD3):c.575C>T (p.Thr192Ile)
|
rs1408867451
|
0.00001
|
|
NM_198271.5(LMOD3):c.656A>G (p.Lys219Arg)
|
rs190038977
|
0.00001
|
|
NM_198271.5(LMOD3):c.76A>G (p.Asn26Asp)
|
rs541421744
|
0.00001
|
|
NM_198271.5(LMOD3):c.817G>T (p.Asp273Tyr)
|
rs757466929
|
0.00001
|
|
NM_198271.5(LMOD3):c.823G>A (p.Val275Ile)
|
rs777811622
|
0.00001
|
|
NM_198271.5(LMOD3):c.832A>G (p.Met278Val)
|
rs755520605
|
0.00001
|
|
NM_198271.5(LMOD3):c.872A>G (p.Asn291Ser)
|
rs768467240
|
0.00001
|
|
NM_198271.5(LMOD3):c.895G>A (p.Ala299Thr)
|
rs758653889
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1004G>A (p.Arg335Gln)
|
rs754654816
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1047G>T (p.Glu349Asp)
|
rs776851070
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1101C>T (p.Ala367=)
|
rs755732268
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1102G>A (p.Asp368Asn)
|
rs544405738
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1132A>G (p.Met378Val)
|
rs751445312
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1134G>A (p.Met378Ile)
|
rs368695262
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1139G>T (p.Ser380Ile)
|
rs1345969937
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1169G>A (p.Arg390Gln)
|
rs773493989
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1190G>A (p.Arg397Gln)
|
rs550384726
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1318G>A (p.Glu440Lys)
|
rs780771241
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1323G>A (p.Met441Ile)
|
rs546622086
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1367C>T (p.Ala456Val)
|
rs1441238911
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1371G>A (p.Met457Ile)
|
rs201170479
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.141A>G (p.Glu47=)
|
rs2078511790
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.144+3A>G
|
rs746978790
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1528G>A (p.Glu510Lys)
|
rs777124617
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1568C>A (p.Pro523His)
|
rs2077464822
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1576T>C (p.Ser526Pro)
|
rs1054433686
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1579C>T (p.Leu527=)
|
rs992998143
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1593G>A (p.Glu531=)
|
rs1337013281
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1621C>A (p.Arg541=)
|
rs372400638
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1658C>T (p.Thr553Ile)
|
rs372225003
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1661-18C>T
|
rs770658226
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1667C>A (p.Ser556Tyr)
|
rs1205407393
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1687C>T (p.Arg563Cys)
|
rs1277522148
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1691A>G (p.Gln564Arg)
|
rs372175446
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1701A>G (p.Leu567=)
|
rs1192406278
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1858A>T (p.Asn620Tyr)
|
rs757993759
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1876A>C (p.Asn626His)
|
rs1227637171
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.194A>G (p.Asn65Ser)
|
rs1338458844
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.1950G>A (p.Ala650=)
|
rs1310483187
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.2030A>G (p.Asp677Gly)
|
rs748599215
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.2085C>T (p.Ser695=)
|
rs1174848549
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.2088C>A (p.Asp696Glu)
|
rs2076619479
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.2092G>A (p.Ala698Thr)
|
rs763974341
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.2113C>T (p.Arg705Cys)
|
rs766598630
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.2169T>C (p.Tyr723=)
|
rs779638112
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.2174A>G (p.Gln725Arg)
|
rs1180228524
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.2175A>G (p.Gln725=)
|
rs769402289
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.2213A>G (p.His738Arg)
|
rs766757910
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.2230C>A (p.Leu744Met)
|
rs137975846
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.2246C>T (p.Pro749Leu)
|
rs762399074
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.2343T>C (p.Ser781=)
|
rs1348100945
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.2457C>G (p.Pro819=)
|
rs1324717403
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.2526C>T (p.Ile842=)
|
rs2076610677
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.264A>T (p.Arg88=)
|
rs769630015
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.360T>A (p.Pro120=)
|
rs191871740
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.397-8C>T
|
rs762192312
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.400G>A (p.Gly134Arg)
|
rs775889804
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.413A>G (p.Asn138Ser)
|
rs1247504361
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.426C>A (p.Ile142=)
|
rs559904651
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.471G>A (p.Pro157=)
|
rs777067889
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.481G>A (p.Val161Ile)
|
rs773419206
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.483A>G (p.Val161=)
|
rs771805969
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.492C>T (p.Val164=)
|
rs2077651144
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.600+7G>A
|
rs765317470
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.600+8C>T
|
rs759566367
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.601-10C>A
|
rs756949758
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=)
|
rs567814417
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.637C>A (p.Arg213=)
|
rs753970642
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.63G>C (p.Gln21His)
|
rs752000702
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.660T>C (p.Phe220=)
|
rs756711521
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.6G>A (p.Val2=)
|
rs201779407
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.714G>A (p.Glu238=)
|
rs941704858
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.72G>A (p.Ser24=)
|
rs888655219
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.880G>A (p.Gly294Arg)
|
rs765912174
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.990G>A (p.Arg330=)
|
rs370001319
|
0.00001
|
|
NM_213720.3(CHCHD10):c.106C>T (p.Pro36Ser)
|
rs1259379217
|
0.00001
|
|
NM_213720.3(CHCHD10):c.10G>C (p.Gly4Arg)
|
rs945463572
|
0.00001
|
|
NM_213720.3(CHCHD10):c.16C>G (p.Arg6Gly)
|
rs751472303
|
0.00001
|
|
NM_213720.3(CHCHD10):c.189C>T (p.His63=)
|
rs202148090
|
0.00001
|
|
NM_213720.3(CHCHD10):c.192C>T (p.Val64=)
|
rs1392838932
|
0.00001
|
|
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr)
|
rs542541060
|
0.00001
|
|
NM_213720.3(CHCHD10):c.261+9C>A
|
rs746028073
|
0.00001
|
|
NM_213720.3(CHCHD10):c.306C>T (p.Cys102=)
|
rs527737360
|
0.00001
|
|
NM_213720.3(CHCHD10):c.354C>A (p.Asp118Glu)
|
rs780959799
|
0.00001
|
|
NM_213720.3(CHCHD10):c.365G>T (p.Cys122Phe)
|
rs1358742335
|
0.00001
|
|
NM_213720.3(CHCHD10):c.372C>T (p.Gly124=)
|
rs372902325
|
0.00001
|
|
NM_213720.3(CHCHD10):c.408T>C (p.His136=)
|
rs113677828
|
0.00001
|
|
NM_213720.3(CHCHD10):c.409+11G>A
|
rs745652443
|
0.00001
|
|
NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val)
|
rs1197865297
|
0.00001
|
|
NM_213720.3(CHCHD10):c.42-8C>T
|
rs1191330602
|
0.00001
|
|
NM_213720.3(CHCHD10):c.46C>T (p.Pro16Ser)
|
rs927168789
|
0.00001
|
|
NM_213720.3(CHCHD10):c.53C>T (p.Ala18Val)
|
rs1244878740
|
0.00001
|
|
NM_213720.3(CHCHD10):c.79C>T (p.Pro27Ser)
|
rs1297070374
|
0.00001
|
|
NC_000001.10:g.(?_154140413)_(154164494_?)dup
|
|
|
|
NC_000001.10:g.(?_154163642)_(154164494_?)del
|
|
|
|
NC_000001.10:g.(?_229567246)_(232172577_?)dup
|
|
|
|
NC_000001.10:g.(?_25870190)_(26142209_?)del
|
|
|
|
NC_000001.10:g.(?_26128487)_(26128628_?)dup
|
|
|
|
NC_000001.11:g.(?_154191166)_(154192038_?)del
|
|
|
|
NC_000001.11:g.(?_229431489)_(229433125_?)dup
|
|
|
|
NC_000001.11:g.114695550A>G
|
rs759414256
|
|
|
NC_000002.11:g.(?_127804599)_(127865903_?)del
|
|
|
|
NC_000002.11:g.(?_127806092)_(127834292_?)dup
|
|
|
|
NC_000002.11:g.(?_127806102)_(127864519_?)dup
|
|
|
|
NC_000002.11:g.(?_127806102)_(128432598_?)del
|
|
|
|
NC_000002.11:g.(?_127815029)_(127864539_?)dup
|
|
|
|
NC_000002.11:g.(?_127821127)_(127834302_?)dup
|
|
|
|
NC_000002.11:g.(?_127825719)_(127828412_?)dup
|
|
|
|
NC_000002.11:g.(?_127834182)_(127864519_?)dup
|
|
|
|
NC_000002.11:g.(?_127864416)_(127864519_?)dup
|
|
|
|
NC_000002.11:g.(?_152342274)_(152432888_?)dup
|
|
|
|
NC_000002.11:g.(?_152348187)_(152425896_?)dup
|
|
|
|
NC_000002.11:g.(?_152369227)_(152376302_?)del
|
|
|
|
NC_000002.11:g.(?_152380815)_(152384109_?)del
|
|
|
|
NC_000002.11:g.(?_152408232)_(152432888_?)del
|
|
|
|
NC_000002.11:g.(?_152417187)_(152418727_?)del
|
|
|
|
NC_000002.11:g.(?_152466303)_(152477560_?)dup
|
|
|
|
NC_000002.11:g.(?_152466303)_(152563531_?)del
|
|
|
|
NC_000002.11:g.(?_152466303)_(152955525_?)del
|
|
|
|
NC_000002.11:g.(?_152470770)_(152471121_?)del
|
|
|
|
NC_000002.11:g.(?_152470770)_(152554182_?)del
|
|
|
|
NC_000002.11:g.(?_152475955)_(152476286_?)del
|
|
|
|
NC_000002.11:g.(?_152482028)_(152566297_?)del
|
|
|
|
NC_000002.11:g.(?_152482028)_(152567072_?)del
|
|
|
|
NC_000002.11:g.(?_152484352)_152490482del
|
|
|
|
NC_000002.11:g.(?_152499078)_(152500653_?)del
|
|
|
|
NC_000002.11:g.(?_152506680)_(152507409_?)del
|
|
|
|
NC_000002.11:g.(?_152506680)_(152510623_?)del
|
|
|
|
NC_000002.11:g.(?_152524298)_(152525665_?)del
|
|
|
|
NC_000002.11:g.(?_152539156)_(152539303_?)del
|
|
|
|
NC_000002.11:g.(?_152541945)_(152544191_?)del
|
|
|
|
NC_000002.11:g.(?_152579876)_(152589670_?)del
|
|
|
|
NC_000002.11:g.(?_170366289)_(170382206_?)dup
|
|
|
|
NC_000002.11:g.(?_179296824)_(179518254_?)del
|
|
|
|
NC_000002.11:g.(?_179296824)_(179914668_?)dup
|
|
|
|
NC_000002.11:g.(?_179389716)_(179673150_?)dup
|
|
|
|
NC_000002.11:g.(?_179405446)_(179408110_?)del
|
|
|
|
NC_000002.11:g.(?_179407899)_(179439276_?)del
|
|
|
|
NC_000002.11:g.(?_179419384)_(179419787_?)dup
|
|
|
|
NC_000002.11:g.(?_179419793)_(179515001_?)del
|
|
|
|
NC_000002.11:g.(?_179425803)_(179544953_?)del
|
|
|
|
NC_000002.11:g.(?_179425856)_(179596206_?)del
|
|
|
|
NC_000002.11:g.(?_179426336)_(179569921_?)del
|
|
|
|
NC_000002.11:g.(?_179432520)_(179439230_?)del
|
|
|
|
NC_000002.11:g.(?_179443318)_(179669369_?)del
|
|
|
|
NC_000002.11:g.(?_179460214)_(179487514_?)dup
|
|
|
|
NC_000002.11:g.(?_179480014)_(179501546_?)dup
|
|
|
|
NC_000002.11:g.(?_179480024)_(179501536_?)dup
|
|
|
|
NC_000002.11:g.(?_179485819)_(179486745_?)dup
|
|
|
|
NC_000002.11:g.(?_179485829)_(179486735_?)dup
|
|
|
|
NC_000002.11:g.(?_179489182)_(179501536_?)del
|
|
|
|
NC_000002.11:g.(?_179504005)_(179560850_?)del
|
|
|
|
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NC_000021.9:g.46119791_46119798dup
|
|
|
|
NC_000022.10:g.(?_24108011)_(24110169_?)dup
|
|
|
|
NC_000022.10:g.(?_24108174)_(24110081_?)dup
|
|
|
|
NC_000022.10:g.(?_24108194)_(24108482_?)del
|
|
|
|
NC_000022.10:g.(?_24109541)_(24110061_?)del
|
|
|
|
NC_000022.10:g.(?_24109541)_(24110081_?)del
|
|
|
|
NC_000022.11:g.(?_23765824)_(23767603_?)del
|
|
|
|
NC_000022.11:g.(?_23767364)_(23767982_?)del
|
|
|
|
NC_000023.10:g.(?_149613783)_(149840068_?)dup
|
|
|
|
NC_000023.10:g.(?_149613783)_(150573536_?)del
|
|
|
|
NC_000023.10:g.(?_149761067)_(149761149_?)del
|
|
|
|
NC_000023.10:g.(?_149761067)_(149840078_?)del
|
|
|
|
NC_000023.10:g.(?_149761067)_(150573540_?)dup
|
|
|
|
NC_000023.10:g.(?_149761077)_(149787632_?)dup
|
|
|
|
NC_000023.10:g.(?_149761093)_(149767213_?)del
|
|
|
|
NC_000023.10:g.(?_149783042)_(149787632_?)del
|
|
|
|
NC_000023.10:g.(?_149783052)_(149840078_?)dup
|
|
|
|
NC_000023.10:g.(?_149807406)_(149814354_?)dup
|
|
|
|
NC_000023.10:g.(?_149818176)_(149818384_?)del
|
|
|
|
NC_000023.10:g.(?_149826274)_(149826520_?)del
|
|
|
|
NC_000023.10:g.(?_149826274)_(149840088_?)del
|
|
|
|
NC_000023.10:g.(?_149826294)_(149826500_?)del
|
|
|
|
NC_000023.10:g.(?_149831886)_(149840088_?)del
|
|
|
|
NC_000023.10:g.(?_149831896)_(149832092_?)del
|
|
|
|
NC_000023.10:g.(?_149839891)_(149840078_?)del
|
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
|
NC_000023.10:g.(?_153639844)_(153642537_?)del
|
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)del
|
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)dup
|
|
|
|
NC_000023.10:g.(?_153640181)_(153775961_?)dup
|
|
|
|
NC_000023.10:g.(?_153641545)_(153648084_?)dup
|
|
|
|
NC_000023.10:g.(?_153647862)_(153649343_?)dup
|
|
|
|
NC_000023.10:g.(?_153647872)_(153650075_?)del
|
|
|
|
NM_000036.2(AMPD1):c.11G>A (p.Arg4Lys)
|
|
|
|
NM_000036.2(AMPD1):c.23G>T (p.Ser8Ile)
|
|
|
|
NM_000036.2(AMPD1):c.9C>T (p.Val3=)
|
rs748160625
|
|
|
NM_000036.3(AMPD1):c.-15A>G
|
|
|
|
NM_000036.3(AMPD1):c.-31T>C
|
|
|
|
NM_000036.3(AMPD1):c.-42C>T
|
|
|
|
NM_000036.3(AMPD1):c.-45CTT[1]
|
|
|
|
NM_000036.3(AMPD1):c.-60dup
|
rs770393080
|
|
|
NM_000036.3(AMPD1):c.1019C>T (p.Thr340Ile)
|
|
|
|
NM_000036.3(AMPD1):c.1030C>A (p.Leu344Ile)
|
rs377513152
|
|
|
NM_000036.3(AMPD1):c.104G>A (p.Arg35His)
|
rs147972392
|
|
|
NM_000036.3(AMPD1):c.104G>T (p.Arg35Leu)
|
rs147972392
|
|
|
NM_000036.3(AMPD1):c.106C>T (p.Gln36Ter)
|
rs746801564
|
|
|
NM_000036.3(AMPD1):c.1075T>C (p.Ser359Pro)
|
|
|
|
NM_000036.3(AMPD1):c.1084G>A (p.Val362Ile)
|
|
|
|
NM_000036.3(AMPD1):c.1092+12C>G
|
rs532506042
|
|
|
NM_000036.3(AMPD1):c.1093-12T>A
|
|
|
|
NM_000036.3(AMPD1):c.1093-12T>C
|
|
|
|
NM_000036.3(AMPD1):c.1093-13T>C
|
rs1657920976
|
|
|
NM_000036.3(AMPD1):c.1093-5T>C
|
|
|
|
NM_000036.3(AMPD1):c.1096C>T (p.Arg366Cys)
|
|
|
|
NM_000036.3(AMPD1):c.1118A>G (p.Asp373Gly)
|
|
|
|
NM_000036.3(AMPD1):c.1148G>A (p.Gly383Glu)
|
rs769460760
|
|
|
NM_000036.3(AMPD1):c.1151C>A (p.Ala384Glu)
|
|
|
|
NM_000036.3(AMPD1):c.1158_1177del (p.Leu387fs)
|
|
|
|
NM_000036.3(AMPD1):c.1163G>A (p.Arg388Gln)
|
|
|
|
NM_000036.3(AMPD1):c.1166A>T (p.Asp389Val)
|
|
|
|
NM_000036.3(AMPD1):c.1170C>G (p.Leu390=)
|
rs566349141
|
|
|
NM_000036.3(AMPD1):c.1173C>T (p.Tyr391=)
|
|
|
|
NM_000036.3(AMPD1):c.117C>T (p.Ser39=)
|
|
|
|
NM_000036.3(AMPD1):c.1188T>C (p.Asn396=)
|
rs532589702
|
|
|
NM_000036.3(AMPD1):c.120C>G (p.Pro40=)
|
|
|
|
NM_000036.3(AMPD1):c.1220T>C (p.Ile407Thr)
|
|
|
|
NM_000036.3(AMPD1):c.1224+15A>G
|
|
|
|
NM_000036.3(AMPD1):c.1224+6G>A
|
|
|
|
NM_000036.3(AMPD1):c.1224+6G>T
|
|
|
|
NM_000036.3(AMPD1):c.1225-13C>A
|
|
|
|
NM_000036.3(AMPD1):c.1225-16T>A
|
|
|
|
NM_000036.3(AMPD1):c.1235C>T (p.Ala412Val)
|
|
|
|
NM_000036.3(AMPD1):c.1242G>A (p.Leu414=)
|
|
|
|
NM_000036.3(AMPD1):c.1259A>G (p.Gln420Arg)
|
rs1207724365
|
|
|
NM_000036.3(AMPD1):c.1268A>C (p.Glu423Ala)
|
rs2101713600
|
|
|
NM_000036.3(AMPD1):c.1276C>G (p.Leu426Val)
|
rs1658021879
|
|
|
NM_000036.3(AMPD1):c.1302T>A (p.Asp434Glu)
|
|
|
|
NM_000036.3(AMPD1):c.1304A>G (p.Glu435Gly)
|
|
|
|
NM_000036.3(AMPD1):c.1319C>A (p.Ser440Tyr)
|
|
|
|
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe)
|
|
|
|
NM_000036.3(AMPD1):c.1329C>T (p.Phe443=)
|
|
|
|
NM_000036.3(AMPD1):c.1330G>A (p.Val444Ile)
|
|
|
|
NM_000036.3(AMPD1):c.1339C>A (p.Arg447Ser)
|
|
|
|
NM_000036.3(AMPD1):c.1365G>A (p.Trp455Ter)
|
rs1447749222
|
|
|
NM_000036.3(AMPD1):c.1366A>T (p.Met456Leu)
|
|
|
|
NM_000036.3(AMPD1):c.137T>G (p.Ile46Ser)
|
|
|
|
NM_000036.3(AMPD1):c.1381A>G (p.Arg461Gly)
|
rs746166547
|
|
|
NM_000036.3(AMPD1):c.1383G>A (p.Arg461=)
|
|
|
|
NM_000036.3(AMPD1):c.1383G>C (p.Arg461Ser)
|
rs1371202947
|
|
|
NM_000036.3(AMPD1):c.1388+14C>T
|
|
|
|
NM_000036.3(AMPD1):c.1388+15A>G
|
|
|
|
NM_000036.3(AMPD1):c.1388+8C>A
|
|
|
|
NM_000036.3(AMPD1):c.1389-13T>C
|
|
|
|
NM_000036.3(AMPD1):c.1389-15C>A
|
|
|
|
NM_000036.3(AMPD1):c.1389-5T>C
|
|
|
|
NM_000036.3(AMPD1):c.1391A>G (p.Asp464Gly)
|
|
|
|
NM_000036.3(AMPD1):c.1420C>T (p.His474Tyr)
|
|
|
|
NM_000036.3(AMPD1):c.1425T>C (p.Phe475=)
|
|
|
|
NM_000036.3(AMPD1):c.1465G>A (p.Ala489Thr)
|
|
|
|
NM_000036.3(AMPD1):c.146T>A (p.Ile49Asn)
|
|
|
|
NM_000036.3(AMPD1):c.1476C>A (p.Asn492Lys)
|
rs1570838359
|
|
|
NM_000036.3(AMPD1):c.147_148insCGGACA (p.Ile49_Ser50insArgThr)
|
|
|
|
NM_000036.3(AMPD1):c.1490C>T (p.Pro497Leu)
|
|
|
|
NM_000036.3(AMPD1):c.1504T>C (p.Phe502Leu)
|
rs966578460
|
|
|
NM_000036.3(AMPD1):c.1515+20C>A
|
rs751358383
|
|
|
NM_000036.3(AMPD1):c.1515+7A>G
|
|
|
|
NM_000036.3(AMPD1):c.1516-14A>G
|
|
|
|
NM_000036.3(AMPD1):c.1517T>C (p.Ile506Thr)
|
|
|
|
NM_000036.3(AMPD1):c.1529A>G (p.Asp510Gly)
|
|
|
|
NM_000036.3(AMPD1):c.1537G>A (p.Asp513Asn)
|
|
|
|
NM_000036.3(AMPD1):c.1557T>C (p.Ser519=)
|
rs2101711850
|
|
|
NM_000036.3(AMPD1):c.1560C>G (p.Gly520=)
|
|
|
|
NM_000036.3(AMPD1):c.1562A>C (p.His521Pro)
|
rs1156760290
|
|
|
NM_000036.3(AMPD1):c.1568T>C (p.Phe523Ser)
|
|
|
|
NM_000036.3(AMPD1):c.156T>C (p.His52=)
|
|
|
|
NM_000036.3(AMPD1):c.1578G>A (p.Lys526=)
|
|
|
|
NM_000036.3(AMPD1):c.1583C>T (p.Pro528Leu)
|
|
|
|
NM_000036.3(AMPD1):c.1588C>T (p.Pro530Ser)
|
|
|
|
NM_000036.3(AMPD1):c.1590C>T (p.Pro530=)
|
|
|
|
NM_000036.3(AMPD1):c.1603T>C (p.Leu535=)
|
|
|
|
NM_000036.3(AMPD1):c.1637A>G (p.Tyr546Cys)
|
|
|
|
NM_000036.3(AMPD1):c.1659G>C (p.Met553Ile)
|
rs1657954756
|
|
|
NM_000036.3(AMPD1):c.1662G>A (p.Val554=)
|
|
|
|
NM_000036.3(AMPD1):c.1679+1G>T
|
|
|
|
NM_000036.3(AMPD1):c.1684C>T (p.Arg562Ter)
|
|
|
|
NM_000036.3(AMPD1):c.1685G>A (p.Arg562Gln)
|
|
|
|
NM_000036.3(AMPD1):c.1706T>A (p.Phe569Tyr)
|
|
|
|
NM_000036.3(AMPD1):c.1729G>A (p.Gly577Arg)
|
rs2101711121
|
|
|
NM_000036.3(AMPD1):c.1734C>T (p.Ala578=)
|
|
|
|
NM_000036.3(AMPD1):c.1739C>T (p.Thr580Ile)
|
|
|
|
NM_000036.3(AMPD1):c.1747A>T (p.Met583Leu)
|
|
|
|
NM_000036.3(AMPD1):c.174A>T (p.Ile58=)
|
rs375898522
|
|
|
NM_000036.3(AMPD1):c.1752A>G (p.Thr584=)
|
|
|
|
NM_000036.3(AMPD1):c.1753G>A (p.Ala585Thr)
|
|
|
|
NM_000036.3(AMPD1):c.1772A>C (p.Asp591Ala)
|
|
|
|
NM_000036.3(AMPD1):c.1782T>C (p.His594=)
|
|
|
|
NM_000036.3(AMPD1):c.1800+12G>T
|
|
|
|
NM_000036.3(AMPD1):c.1800+14T>G
|
|
|
|
NM_000036.3(AMPD1):c.1800+7T>C
|
|
|
|
NM_000036.3(AMPD1):c.1806C>G (p.Pro602=)
|
|
|
|
NM_000036.3(AMPD1):c.1806C>T (p.Pro602=)
|
rs148515775
|
|
|
NM_000036.3(AMPD1):c.1808T>G (p.Val603Gly)
|
|
|
|
NM_000036.3(AMPD1):c.1813C>A (p.Gln605Lys)
|
rs1354176888
|
|
|
NM_000036.3(AMPD1):c.1813C>T (p.Gln605Ter)
|
rs1354176888
|
|
|
NM_000036.3(AMPD1):c.1846G>A (p.Ala616Thr)
|
|
|
|
NM_000036.3(AMPD1):c.186G>T (p.Glu62Asp)
|
rs1017107552
|
|
|
NM_000036.3(AMPD1):c.1873C>G (p.Leu625Val)
|
|
|
|
NM_000036.3(AMPD1):c.1886A>G (p.Tyr629Cys)
|
|
|
|
NM_000036.3(AMPD1):c.189T>G (p.Thr63=)
|
rs202046815
|
|
|
NM_000036.3(AMPD1):c.190_191del (p.Leu64fs)
|
|
|
|
NM_000036.3(AMPD1):c.1924C>T (p.Leu642=)
|
rs760814471
|
|
|
NM_000036.3(AMPD1):c.193T>A (p.Ser65Thr)
|
|
|
|
NM_000036.3(AMPD1):c.1955T>A (p.Met652Lys)
|
|
|
|
NM_000036.3(AMPD1):c.1974+16G>T
|
|
|
|
NM_000036.3(AMPD1):c.1974+1G>C
|
rs145328844
|
|
|
NM_000036.3(AMPD1):c.1974+7T>C
|
|
|
|
NM_000036.3(AMPD1):c.1974+8A>G
|
|
|
|
NM_000036.3(AMPD1):c.1975-18C>T
|
|
|
|
NM_000036.3(AMPD1):c.1975-20_1975-18dup
|
|
|
|
NM_000036.3(AMPD1):c.1979C>A (p.Pro660His)
|
rs267597931
|
|
|
NM_000036.3(AMPD1):c.1979C>T (p.Pro660Leu)
|
rs267597931
|
|
|
NM_000036.3(AMPD1):c.2005G>A (p.Ala669Thr)
|
rs1657899229
|
|
|
NM_000036.3(AMPD1):c.2033A>G (p.Asp678Gly)
|
rs2101710015
|
|
|
NM_000036.3(AMPD1):c.2036T>C (p.Met679Thr)
|
|
|
|
NM_000036.3(AMPD1):c.2040C>T (p.Cys680=)
|
|
|
|
NM_000036.3(AMPD1):c.2041G>A (p.Glu681Lys)
|
|
|
|
NM_000036.3(AMPD1):c.2044G>C (p.Val682Leu)
|
|
|
|
NM_000036.3(AMPD1):c.204A>T (p.Thr68=)
|
|
|
|
NM_000036.3(AMPD1):c.2086-3T>C
|
|
|
|
NM_000036.3(AMPD1):c.2086-7C>T
|
|
|
|
NM_000036.3(AMPD1):c.2092G>C (p.Val698Leu)
|
|
|
|
NM_000036.3(AMPD1):c.2102T>A (p.Leu701Gln)
|
rs759824860
|
|
|
NM_000036.3(AMPD1):c.2106C>A (p.Gly702=)
|
|
|
|
NM_000036.3(AMPD1):c.2106C>T (p.Gly702=)
|
|
|
|
NM_000036.3(AMPD1):c.2107G>A (p.Asp703Asn)
|
|
|
|
NM_000036.3(AMPD1):c.2116C>G (p.Leu706Val)
|
|
|
|
NM_000036.3(AMPD1):c.2126G>A (p.Gly709Asp)
|
|
|
|
NM_000036.3(AMPD1):c.2133T>A (p.Ala711=)
|
rs2101709600
|
|
|
NM_000036.3(AMPD1):c.2135G>A (p.Gly712Glu)
|
|
|
|
NM_000036.3(AMPD1):c.215+1G>A
|
|
|
|
NM_000036.3(AMPD1):c.215+6T>C
|
|
|
|
NM_000036.3(AMPD1):c.216-17T>G
|
|
|
|
NM_000036.3(AMPD1):c.216-2del
|
|
|
|
NM_000036.3(AMPD1):c.2170C>T (p.Arg724Cys)
|
|
|
|
NM_000036.3(AMPD1):c.2171G>A (p.Arg724His)
|
|
|
|
NM_000036.3(AMPD1):c.2171G>C (p.Arg724Pro)
|
|
|
|
NM_000036.3(AMPD1):c.2171G>T (p.Arg724Leu)
|
rs146036570
|
|
|
NM_000036.3(AMPD1):c.2183G>A (p.Arg728His)
|
|
|
|
NM_000036.3(AMPD1):c.21A>C (p.Pro7=)
|
|
|
|
NM_000036.3(AMPD1):c.2224G>C (p.Gly742Arg)
|
|
|
|
NM_000036.3(AMPD1):c.224G>A (p.Arg75His)
|
rs61738827
|
|
|
NM_000036.3(AMPD1):c.23-10C>T
|
|
|
|
NM_000036.3(AMPD1):c.23-4A>G
|
rs1388958387
|
|
|
NM_000036.3(AMPD1):c.231_243del (p.Gly78fs)
|
|
|
|
NM_000036.3(AMPD1):c.236G>A (p.Arg79Gln)
|
rs200543002
|
|
|
NM_000036.3(AMPD1):c.247A>G (p.Asn83Asp)
|
rs749940824
|
|
|
NM_000036.3(AMPD1):c.255C>T (p.Ser85=)
|
|
|
|
NM_000036.3(AMPD1):c.261A>C (p.Pro87=)
|
|
|
|
NM_000036.3(AMPD1):c.282C>A (p.Thr94=)
|
rs1395096733
|
|
|
NM_000036.3(AMPD1):c.285A>C (p.Lys95Asn)
|
|
|
|
NM_000036.3(AMPD1):c.2T>G (p.Met1Arg)
|
rs2101730071
|
|
|
NM_000036.3(AMPD1):c.301G>C (p.Glu101Gln)
|
|
|
|
NM_000036.3(AMPD1):c.301G>T (p.Glu101Ter)
|
|
|
|
NM_000036.3(AMPD1):c.306C>T (p.Tyr102=)
|
|
|
|
NM_000036.3(AMPD1):c.308T>C (p.Ile103Thr)
|
|
|
|
NM_000036.3(AMPD1):c.309T>A (p.Ile103=)
|
rs398123115
|
|
|
NM_000036.3(AMPD1):c.315A>C (p.Ser105=)
|
|
|
|
NM_000036.3(AMPD1):c.323C>T (p.Thr108Ile)
|
rs547487220
|
|
|
NM_000036.3(AMPD1):c.328C>G (p.Gln110Glu)
|
rs1284363894
|
|
|
NM_000036.3(AMPD1):c.333C>G (p.Thr111=)
|
|
|
|
NM_000036.3(AMPD1):c.333C>T (p.Thr111=)
|
rs138479739
|
|
|
NM_000036.3(AMPD1):c.34+19T>C
|
|
|
|
NM_000036.3(AMPD1):c.34+3G>A
|
|
|
|
NM_000036.3(AMPD1):c.34+5G>A
|
|
|
|
NM_000036.3(AMPD1):c.343T>A (p.Phe115Ile)
|
|
|
|
NM_000036.3(AMPD1):c.345T>C (p.Phe115=)
|
|
|
|
NM_000036.3(AMPD1):c.35-16T>C
|
|
|
|
NM_000036.3(AMPD1):c.35-3T>C
|
|
|
|
NM_000036.3(AMPD1):c.35-7_35-4del
|
rs398123114
|
|
|
NM_000036.3(AMPD1):c.351_352del (p.Arg117fs)
|
|
|
|
NM_000036.3(AMPD1):c.369C>T (p.Asp123=)
|
|
|
|
NM_000036.3(AMPD1):c.375C>T (p.Ala125=)
|
|
|
|
NM_000036.3(AMPD1):c.381+17C>T
|
|
|
|
NM_000036.3(AMPD1):c.381+20T>C
|
|
|
|
NM_000036.3(AMPD1):c.381+7T>A
|
|
|
|
NM_000036.3(AMPD1):c.381G>A (p.Gly127=)
|
|
|
|
NM_000036.3(AMPD1):c.382-18C>T
|
|
|
|
NM_000036.3(AMPD1):c.382-6del
|
rs727503806
|
|
|
NM_000036.3(AMPD1):c.382-6dup
|
rs727503806
|
|
|
NM_000036.3(AMPD1):c.428C>A (p.Ala143Glu)
|
|
|
|
NM_000036.3(AMPD1):c.461C>T (p.Ser154Leu)
|
|
|
|
NM_000036.3(AMPD1):c.471G>A (p.Arg157=)
|
|
|
|
NM_000036.3(AMPD1):c.480A>G (p.Lys160=)
|
|
|
|
NM_000036.3(AMPD1):c.499C>T (p.Arg167Trp)
|
|
|
|
NM_000036.3(AMPD1):c.4C>T (p.Pro2Ser)
|
|
|
|
NM_000036.3(AMPD1):c.507T>G (p.Ile169Met)
|
rs542684385
|
|
|
NM_000036.3(AMPD1):c.520T>C (p.Trp174Arg)
|
|
|
|
NM_000036.3(AMPD1):c.53G>T (p.Arg18Leu)
|
|
|
|
NM_000036.3(AMPD1):c.547+13T>C
|
|
|
|
NM_000036.3(AMPD1):c.547+15A>G
|
|
|
|
NM_000036.3(AMPD1):c.547+16del
|
|
|
|
NM_000036.3(AMPD1):c.586C>T (p.Arg196Ter)
|
rs775029965
|
|
|
NM_000036.3(AMPD1):c.589A>G (p.Thr197Ala)
|
|
|
|
NM_000036.3(AMPD1):c.592G>C (p.Asp198His)
|
rs267597934
|
|
|
NM_000036.3(AMPD1):c.5del (p.Pro2fs)
|
rs557878856
|
|
|
NM_000036.3(AMPD1):c.607A>T (p.Asn203Tyr)
|
|
|
|
NM_000036.3(AMPD1):c.624C>G (p.Leu208=)
|
rs542388930
|
|
|
NM_000036.3(AMPD1):c.62C>T (p.Ala21Val)
|
rs1570852851
|
|
|
NM_000036.3(AMPD1):c.633G>A (p.Lys211=)
|
|
|
|
NM_000036.3(AMPD1):c.638G>T (p.Gly213Val)
|
|
|
|
NM_000036.3(AMPD1):c.643G>A (p.Val215Ile)
|
rs1165630426
|
|
|
NM_000036.3(AMPD1):c.653A>G (p.Tyr218Cys)
|
|
|
|
NM_000036.3(AMPD1):c.659A>G (p.Asn220Ser)
|
|
|
|
NM_000036.3(AMPD1):c.670G>C (p.Val224Leu)
|
|
|
|
NM_000036.3(AMPD1):c.716C>T (p.Thr239Ile)
|
|
|
|
NM_000036.3(AMPD1):c.726C>T (p.Asp242=)
|
|
|
|
NM_000036.3(AMPD1):c.727G>T (p.Asp243Tyr)
|
|
|
|
NM_000036.3(AMPD1):c.740dup (p.Leu247fs)
|
|
|
|
NM_000036.3(AMPD1):c.746C>T (p.Ala249Val)
|
|
|
|
NM_000036.3(AMPD1):c.754G>T (p.Ala252Ser)
|
|
|
|
NM_000036.3(AMPD1):c.759A>T (p.Gln253His)
|
|
|
|
NM_000036.3(AMPD1):c.767+12del
|
|
|
|
NM_000036.3(AMPD1):c.767+3_767+6del
|
rs749694988
|
|
|
NM_000036.3(AMPD1):c.767+7G>A
|
rs774393161
|
|
|
NM_000036.3(AMPD1):c.768-11A>G
|
|
|
|
NM_000036.3(AMPD1):c.768-19G>A
|
|
|
|
NM_000036.3(AMPD1):c.768-2A>G
|
|
|
|
NM_000036.3(AMPD1):c.769A>C (p.Lys257Gln)
|
rs750114853
|
|
|
NM_000036.3(AMPD1):c.773C>G (p.Thr258Ser)
|
|
|
|
NM_000036.3(AMPD1):c.773C>T (p.Thr258Ile)
|
rs1161639285
|
|
|
NM_000036.3(AMPD1):c.779C>T (p.Thr260Ile)
|
|
|
|
NM_000036.3(AMPD1):c.788G>A (p.Arg263His)
|
|
|
|
NM_000036.3(AMPD1):c.791T>C (p.Leu264Pro)
|
|
|
|
NM_000036.3(AMPD1):c.79T>C (p.Ser27Pro)
|
|
|
|
NM_000036.3(AMPD1):c.829C>T (p.Leu277Phe)
|
rs2101715947
|
|
|
NM_000036.3(AMPD1):c.843C>G (p.Asp281Glu)
|
rs145030449
|
|
|
NM_000036.3(AMPD1):c.857T>A (p.Leu286Gln)
|
rs2101715885
|
|
|
NM_000036.3(AMPD1):c.864C>T (p.Asn288=)
|
rs982156348
|
|
|
NM_000036.3(AMPD1):c.874C>T (p.Arg292Ter)
|
|
|
|
NM_000036.3(AMPD1):c.897+16G>A
|
|
|
|
NM_000036.3(AMPD1):c.897+19C>T
|
|
|
|
NM_000036.3(AMPD1):c.898-14G>A
|
rs1452349780
|
|
|
NM_000036.3(AMPD1):c.898-18C>A
|
|
|
|
NM_000036.3(AMPD1):c.898-9T>C
|
|
|
|
NM_000036.3(AMPD1):c.89A>T (p.Lys30Ile)
|
|
|
|
NM_000036.3(AMPD1):c.905C>T (p.Thr302Ile)
|
|
|
|
NM_000036.3(AMPD1):c.910A>G (p.Ile304Val)
|
|
|
|
NM_000036.3(AMPD1):c.918A>G (p.Ala306=)
|
|
|
|
NM_000036.3(AMPD1):c.922G>A (p.Ala308Thr)
|
|
|
|
NM_000036.3(AMPD1):c.929T>C (p.Met310Thr)
|
|
|
|
NM_000036.3(AMPD1):c.92A>G (p.Asp31Gly)
|
rs201837665
|
|
|
NM_000036.3(AMPD1):c.92A>T (p.Asp31Val)
|
|
|
|
NM_000036.3(AMPD1):c.933C>G (p.Asn311Lys)
|
|
|
|
NM_000036.3(AMPD1):c.951T>C (p.Arg317=)
|
|
|
|
NM_000036.3(AMPD1):c.996T>C (p.Tyr332=)
|
|
|
|
NM_000036.3(AMPD1):c.997A>G (p.Ser333Gly)
|
|
|
|
NM_000036.3(AMPD1):c.9G>A (p.Leu3=)
|
rs2101730055
|
|
|
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+15G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+15del
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+20G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+5G>A
|
rs2148185111
|
|
|
NM_000116.5(TAFAZZIN):c.109+8G>A
|
rs2068315794
|
|
|
NM_000116.5(TAFAZZIN):c.110-15C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-18C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-19A>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-20G>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-2A>G
|
rs1603376833
|
|
|
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)
|
|
|
|
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.129C>G (p.Thr43=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)
|
rs2148186224
|
|
|
NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser)
|
rs2068328744
|
|
|
NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)
|
|
|
|
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu)
|
rs1322365208
|
|
|
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn)
|
rs2068329796
|
|
|
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=)
|
rs1557191148
|
|
|
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg)
|
rs878853654
|
|
|
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu)
|
rs878853654
|
|
|
NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg)
|
rs794729173
|
|
|
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
|
|
|
|
NM_000116.5(TAFAZZIN):c.236_238+5del
|
rs2068331233
|
|
|
NM_000116.5(TAFAZZIN):c.238+10C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+1del
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+2_238+9del
|
rs1603376938
|
|
|
NM_000116.5(TAFAZZIN):c.238+6C>T
|
rs781786197
|
|
|
NM_000116.5(TAFAZZIN):c.238+7G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+9G>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)
|
rs1557191170
|
|
|
NM_000116.5(TAFAZZIN):c.239-11C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-17C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-17C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-18G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-19A>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-6C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-6del
|
rs1064794479
|
|
|
NM_000116.5(TAFAZZIN):c.239-7C>T
|
rs2148190472
|
|
|
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
|
|
|
|
NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.258C>T (p.His86=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.273G>A (p.Lys91=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)
|
rs104894942
|
|
|
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)
|
rs1060500044
|
|
|
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)
|
rs1060500044
|
|
|
NM_000116.5(TAFAZZIN):c.284+17C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.284+3G>C
|
rs1569552708
|
|
|
NM_000116.5(TAFAZZIN):c.284+4A>T
|
rs1603377638
|
|
|
NM_000116.5(TAFAZZIN):c.284+5G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.284+8_284+10del
|
|
|
|
NM_000116.5(TAFAZZIN):c.285-14C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.285-5C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)
|
rs2148191858
|
|
|
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=)
|
rs2148191873
|
|
|
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val)
|
rs1569552722
|
|
|
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)
|
rs781941217
|
|
|
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.322C>T (p.Leu108=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.327C>T (p.His109=)
|
rs1569552726
|
|
|
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)
|
rs1281729528
|
|
|
NM_000116.5(TAFAZZIN):c.348C>G (p.Gly116=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter)
|
rs1569552731
|
|
|
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+11C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+12del
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+16A>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+18C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+19G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+2T>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)
|
rs1603377945
|
|
|
NM_000116.5(TAFAZZIN):c.371-13C>G
|
rs397515742
|
|
|
NM_000116.5(TAFAZZIN):c.371-17T>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.371-19A>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.371-4G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys)
|
rs2068411768
|
|
|
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile)
|
rs2068412679
|
|
|
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val)
|
rs1603378339
|
|
|
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs)
|
rs782253789
|
|
|
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+10G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+10G>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+17G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg)
|
rs2068414496
|
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NM_000116.5(TAFAZZIN):c.461-10_461-5del
|
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|
NM_000116.5(TAFAZZIN):c.461-13C>A
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NM_000116.5(TAFAZZIN):c.461-14C>A
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NM_000116.5(TAFAZZIN):c.461-15G>A
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NM_000116.5(TAFAZZIN):c.461-18G>A
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NM_000116.5(TAFAZZIN):c.461-19A>G
|
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NM_000116.5(TAFAZZIN):c.461-22_461-14del
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NM_000116.5(TAFAZZIN):c.461-3C>A
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NM_000116.5(TAFAZZIN):c.461-7C>T
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NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser)
|
rs1227132566
|
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NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=)
|
rs2148210856
|
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NM_000116.5(TAFAZZIN):c.496T>C (p.Leu166=)
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NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
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NM_000116.5(TAFAZZIN):c.510C>T (p.Asn170=)
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NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)
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NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys)
|
rs1603376560
|
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NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly)
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NM_000116.5(TAFAZZIN):c.528_541+7del
|
rs2068570435
|
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NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=)
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NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
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NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)
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NM_000116.5(TAFAZZIN):c.541+10G>A
|
rs1396794207
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NM_000116.5(TAFAZZIN):c.541+13G>A
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NM_000116.5(TAFAZZIN):c.541+13_541+28del
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NM_000116.5(TAFAZZIN):c.541+20_541+40dup
|
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NM_000116.5(TAFAZZIN):c.541+5G>A
|
rs2068571041
|
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NM_000116.5(TAFAZZIN):c.541+8G>A
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NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
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NM_000116.5(TAFAZZIN):c.542-2A>G
|
rs2068574381
|
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NM_000116.5(TAFAZZIN):c.542-3C>T
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NM_000116.5(TAFAZZIN):c.542-6C>T
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NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu)
|
rs2068574531
|
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NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
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NM_000116.5(TAFAZZIN):c.552C>T (p.Asn184=)
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NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
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NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=)
|
rs36005334
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NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
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NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
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NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
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NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
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NM_000116.5(TAFAZZIN):c.579G>A (p.Lys193=)
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NM_000116.5(TAFAZZIN):c.580_583+10del
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NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)
|
rs794729167
|
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NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg)
|
rs878853656
|
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NM_000116.5(TAFAZZIN):c.584-11C>A
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NM_000116.5(TAFAZZIN):c.584-15C>G
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NM_000116.5(TAFAZZIN):c.584-1G>A
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NM_000116.5(TAFAZZIN):c.584-9C>A
|
rs2068583124
|
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NM_000116.5(TAFAZZIN):c.584-9C>G
|
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NM_000116.5(TAFAZZIN):c.584-9C>T
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NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
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NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
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NM_000116.5(TAFAZZIN):c.588C>T (p.Ile196=)
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NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
|
rs132630277
|
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NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
|
rs397515746
|
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NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=)
|
rs797040235
|
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NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=)
|
rs797040235
|
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NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=)
|
rs797040235
|
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NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)
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NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg)
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NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile)
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NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=)
|
rs782162647
|
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NM_000116.5(TAFAZZIN):c.633C>T (p.Pro211=)
|
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|
NM_000116.5(TAFAZZIN):c.642T>C (p.His214=)
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NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
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NM_000116.5(TAFAZZIN):c.646+12G>A
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NM_000116.5(TAFAZZIN):c.646+12del
|
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NM_000116.5(TAFAZZIN):c.646+13A>T
|
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NM_000116.5(TAFAZZIN):c.646+15G>A
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NM_000116.5(TAFAZZIN):c.646+18G>A
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NM_000116.5(TAFAZZIN):c.646+20C>G
|
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NM_000116.5(TAFAZZIN):c.646+7C>T
|
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NM_000116.5(TAFAZZIN):c.646+8T>C
|
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NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)
|
rs1085307797
|
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NM_000116.5(TAFAZZIN):c.647-14C>G
|
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NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu)
|
rs727504431
|
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|
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)
|
rs140751478
|
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|
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile)
|
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NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=)
|
rs1603381820
|
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NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)
|
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|
NM_000116.5(TAFAZZIN):c.684C>T (p.Phe228=)
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NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=)
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NM_000116.5(TAFAZZIN):c.690C>A (p.Arg230=)
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NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)
|
rs1603381860
|
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NM_000116.5(TAFAZZIN):c.699+15C>T
|
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NM_000116.5(TAFAZZIN):c.699+17G>A
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NM_000116.5(TAFAZZIN):c.699+19C>T
|
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NM_000116.5(TAFAZZIN):c.699+6T>G
|
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NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=)
|
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NM_000116.5(TAFAZZIN):c.700-13G>A
|
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NM_000116.5(TAFAZZIN):c.700-14C>T
|
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NM_000116.5(TAFAZZIN):c.700-19C>G
|
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NM_000116.5(TAFAZZIN):c.700-1del
|
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|
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
|
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|
NM_000116.5(TAFAZZIN):c.705C>A (p.Ile235=)
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NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
|
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NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)
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|
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
|
rs387907218
|
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NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=)
|
rs2148214484
|
|
|
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
|
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|
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
|
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|
NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)
|
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NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
|
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|
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=)
|
rs376379156
|
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|
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=)
|
rs376379156
|
|
|
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly)
|
rs372689133
|
|
|
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln)
|
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|
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs)
|
rs1557194381
|
|
|
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp)
|
rs2068605582
|
|
|
NM_000116.5(TAFAZZIN):c.759G>A (p.Arg253=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu)
|
rs2068606445
|
|
|
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+19C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+1G>A
|
rs2068606932
|
|
|
NM_000116.5(TAFAZZIN):c.777+20C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+3G>A
|
rs2068606988
|
|
|
NM_000116.5(TAFAZZIN):c.777+6T>C
|
rs782175712
|
|
|
NM_000116.5(TAFAZZIN):c.778-63_778-51del
|
rs782249471
|
|
|
NM_000116.5(TAFAZZIN):c.778-6C>A
|
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|
|
NM_000116.5(TAFAZZIN):c.778-8del
|
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|
|
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
|
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|
|
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu)
|
rs1557194488
|
|
|
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met)
|
rs1557194504
|
|
|
NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
|
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.813A>G (p.Gln271=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.816G>A (p.Glu272=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)
|
rs397515750
|
|
|
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.846G>A (p.Glu282=)
|
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|
|
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His)
|
rs1025920600
|
|
|
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=)
|
rs1603382441
|
|
|
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile)
|
rs2068315101
|
|
|
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
|
|
|
|
NM_000182.5(HADHA):c.1002del (p.Glu335fs)
|
|
|
|
NM_000182.5(HADHA):c.1011G>A (p.Lys337=)
|
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|
|
NM_000182.5(HADHA):c.1014C>G (p.Ala338=)
|
|
|
|
NM_000182.5(HADHA):c.1015T>C (p.Leu339=)
|
rs2147766676
|
|
|
NM_000182.5(HADHA):c.1023A>G (p.Gly341=)
|
|
|
|
NM_000182.5(HADHA):c.1029C>A (p.Tyr343Ter)
|
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|
|
NM_000182.5(HADHA):c.1032T>C (p.His344=)
|
|
|
|
NM_000182.5(HADHA):c.1039G>A (p.Val347Ile)
|
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|
|
NM_000182.5(HADHA):c.1041C>A (p.Val347=)
|
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|
|
NM_000182.5(HADHA):c.1042C>T (p.Leu348=)
|
|
|
|
NM_000182.5(HADHA):c.1044G>A (p.Leu348=)
|
rs1574612640
|
|
|
NM_000182.5(HADHA):c.1049A>G (p.Lys350Arg)
|
rs757845324
|
|
|
NM_000182.5(HADHA):c.1050G>A (p.Lys350=)
|
rs2147766641
|
|
|
NM_000182.5(HADHA):c.1053G>A (p.Lys351=)
|
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|
|
NM_000182.5(HADHA):c.105G>A (p.Leu35=)
|
rs772322566
|
|
|
NM_000182.5(HADHA):c.1065A>C (p.Gly355=)
|
rs1574612617
|
|
|
NM_000182.5(HADHA):c.1070del (p.Pro357fs)
|
rs1670051013
|
|
|
NM_000182.5(HADHA):c.1077G>A (p.Lys359=)
|
rs2147766596
|
|
|
NM_000182.5(HADHA):c.1080T>G (p.Asp360Glu)
|
|
|
|
NM_000182.5(HADHA):c.1085+10del
|
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|
|
NM_000182.5(HADHA):c.1085+12T>G
|
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|
|
NM_000182.5(HADHA):c.1085+15A>G
|
|
|
|
NM_000182.5(HADHA):c.1085+16C>T
|
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|
|
NM_000182.5(HADHA):c.1085+19A>G
|
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|
|
NM_000182.5(HADHA):c.1086-2A>T
|
rs2147762411
|
|
|
NM_000182.5(HADHA):c.1086-3_1092del
|
rs1057516460
|
|
|
NM_000182.5(HADHA):c.1086-8C>T
|
|
|
|
NM_000182.5(HADHA):c.1086-9G>T
|
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|
|
NM_000182.5(HADHA):c.110-10T>C
|
rs372046774
|
|
|
NM_000182.5(HADHA):c.110-11T>C
|
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|
|
NM_000182.5(HADHA):c.110-12T>A
|
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|
|
NM_000182.5(HADHA):c.110-12T>C
|
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|
|
NM_000182.5(HADHA):c.110-13C>A
|
rs1314506688
|
|
|
NM_000182.5(HADHA):c.110-13_110-10del
|
|
|
|
NM_000182.5(HADHA):c.110-14T>A
|
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|
|
NM_000182.5(HADHA):c.110-14T>C
|
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|
|
NM_000182.5(HADHA):c.110-15T>G
|
|
|
|
NM_000182.5(HADHA):c.110-17C>T
|
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|
|
NM_000182.5(HADHA):c.1110G>C (p.Gly370=)
|
|
|
|
NM_000182.5(HADHA):c.1113G>T (p.Leu371=)
|
|
|
|
NM_000182.5(HADHA):c.1119A>G (p.Gly373=)
|
rs2147762370
|
|
|
NM_000182.5(HADHA):c.1125C>T (p.Gly375=)
|
|
|
|
NM_000182.5(HADHA):c.1129G>A (p.Ala377Thr)
|
|
|
|
NM_000182.5(HADHA):c.1131C>G (p.Ala377=)
|
|
|
|
NM_000182.5(HADHA):c.1137C>A (p.Val379=)
|
|
|
|
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu)
|
rs370054250
|
|
|
NM_000182.5(HADHA):c.1167dup (p.Lys390Ter)
|
rs2147762308
|
|
|
NM_000182.5(HADHA):c.1173T>C (p.Asp391=)
|
|
|
|
NM_000182.5(HADHA):c.1183dup (p.Thr395fs)
|
|
|
|
NM_000182.5(HADHA):c.1188G>A (p.Ala396=)
|
rs781338540
|
|
|
NM_000182.5(HADHA):c.1188G>T (p.Ala396=)
|
|
|
|
NM_000182.5(HADHA):c.1194C>T (p.Asp398=)
|
|
|
|
NM_000182.5(HADHA):c.1199G>C (p.Gly400Ala)
|
|
|
|
NM_000182.5(HADHA):c.1204C>T (p.Gln402Ter)
|
rs2147762267
|
|
|
NM_000182.5(HADHA):c.1209del (p.Val404fs)
|
|
|
|
NM_000182.5(HADHA):c.1220+10C>A
|
|
|
|
NM_000182.5(HADHA):c.1220+10CT[3]
|
|
|
|
NM_000182.5(HADHA):c.1220+12C>G
|
|
|
|
NM_000182.5(HADHA):c.1220+12C>T
|
|
|
|
NM_000182.5(HADHA):c.1220+16C>G
|
|
|
|
NM_000182.5(HADHA):c.1220+16C>T
|
|
|
|
NM_000182.5(HADHA):c.1220+17T>C
|
|
|
|
NM_000182.5(HADHA):c.1220+1G>T
|
|
|
|
NM_000182.5(HADHA):c.1220+9G>A
|
|
|
|
NM_000182.5(HADHA):c.1220+9G>C
|
rs539814267
|
|
|
NM_000182.5(HADHA):c.1221-11G>T
|
|
|
|
NM_000182.5(HADHA):c.1222T>C (p.Leu408=)
|
|
|
|
NM_000182.5(HADHA):c.1231_1235del (p.Lys411fs)
|
|
|
|
NM_000182.5(HADHA):c.1234G>T (p.Val412Leu)
|
rs770219903
|
|
|
NM_000182.5(HADHA):c.1236G>T (p.Val412=)
|
|
|
|
NM_000182.5(HADHA):c.1242G>A (p.Lys414=)
|
rs781509327
|
|
|
NM_000182.5(HADHA):c.1248T>G (p.Ala416=)
|
rs769173885
|
|
|
NM_000182.5(HADHA):c.1249del (p.Ala416_Leu417insTer)
|
|
|
|
NM_000182.5(HADHA):c.1261G>T (p.Glu421Ter)
|
|
|
|
NM_000182.5(HADHA):c.1266G>A (p.Arg422=)
|
|
|
|
NM_000182.5(HADHA):c.1290T>C (p.Thr430=)
|
|
|
|
NM_000182.5(HADHA):c.129T>C (p.Tyr43=)
|
rs2147785511
|
|
|
NM_000182.5(HADHA):c.129dup (p.Gly44fs)
|
rs1298883200
|
|
|
NM_000182.5(HADHA):c.130G>A (p.Gly44Arg)
|
|
|
|
NM_000182.5(HADHA):c.1319dup (p.Ala441fs)
|
rs2147759662
|
|
|
NM_000182.5(HADHA):c.1336G>T (p.Glu446Ter)
|
|
|
|
NM_000182.5(HADHA):c.134T>G (p.Val45Gly)
|
|
|
|
NM_000182.5(HADHA):c.1350G>A (p.Glu450=)
|
|
|
|
NM_000182.5(HADHA):c.1361_1364dup (p.Lys455delinsAsnTer)
|
|
|
|
NM_000182.5(HADHA):c.1365G>A (p.Lys455=)
|
rs2147759599
|
|
|
NM_000182.5(HADHA):c.1368C>T (p.His456=)
|
|
|
|
NM_000182.5(HADHA):c.1392+11G>A
|
|
|
|
NM_000182.5(HADHA):c.1392+14T>C
|
|
|
|
NM_000182.5(HADHA):c.1392+14T>G
|
|
|
|
NM_000182.5(HADHA):c.1392+15G>A
|
|
|
|
NM_000182.5(HADHA):c.1392+18G>A
|
|
|
|
NM_000182.5(HADHA):c.1392+18G>T
|
|
|
|
NM_000182.5(HADHA):c.1392+19T>C
|
|
|
|
NM_000182.5(HADHA):c.1393-10dup
|
rs2147756168
|
|
|
NM_000182.5(HADHA):c.1393-13T>C
|
|
|
|
NM_000182.5(HADHA):c.1393-16T>C
|
|
|
|
NM_000182.5(HADHA):c.1393-17dup
|
|
|
|
NM_000182.5(HADHA):c.1393-20T>A
|
|
|
|
NM_000182.5(HADHA):c.1393-3C>T
|
|
|
|
NM_000182.5(HADHA):c.1393G>C (p.Val465Leu)
|
rs1226499517
|
|
|
NM_000182.5(HADHA):c.13C>T (p.Arg5Trp)
|
|
|
|
NM_000182.5(HADHA):c.1413C>T (p.Ile471=)
|
|
|
|
NM_000182.5(HADHA):c.1419C>G (p.Ala473=)
|
|
|
|
NM_000182.5(HADHA):c.141G>A (p.Gly47=)
|
rs1670826504
|
|
|
NM_000182.5(HADHA):c.1422T>C (p.Ser474=)
|
rs2147756121
|
|
|
NM_000182.5(HADHA):c.1431T>G (p.Ser477=)
|
rs758130768
|
|
|
NM_000182.5(HADHA):c.1432G>C (p.Ala478Pro)
|
rs1669713015
|
|
|
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
|
|
|
|
NM_000182.5(HADHA):c.1437C>T (p.Leu479=)
|
|
|
|
NM_000182.5(HADHA):c.1440A>C (p.Pro480=)
|
|
|
|
NM_000182.5(HADHA):c.1452C>A (p.Ile484=)
|
rs758386186
|
|
|
NM_000182.5(HADHA):c.1452C>T (p.Ile484=)
|
rs758386186
|
|
|
NM_000182.5(HADHA):c.1461C>A (p.Val487=)
|
|
|
|
NM_000182.5(HADHA):c.1476G>A (p.Glu492=)
|
|
|
|
NM_000182.5(HADHA):c.1479+12A>G
|
|
|
|
NM_000182.5(HADHA):c.1479+14A>G
|
|
|
|
NM_000182.5(HADHA):c.1479+14A>T
|
|
|
|
NM_000182.5(HADHA):c.1479+17G>A
|
|
|
|
NM_000182.5(HADHA):c.1479+1G>T
|
rs1290945516
|
|
|
NM_000182.5(HADHA):c.1479+7T>A
|
rs1574605330
|
|
|
NM_000182.5(HADHA):c.1479+8C>A
|
rs764385972
|
|
|
NM_000182.5(HADHA):c.1479+8C>T
|
rs764385972
|
|
|
NM_000182.5(HADHA):c.1479+9_1479+25del
|
rs1325169012
|
|
|
NM_000182.5(HADHA):c.147G>A (p.Val49=)
|
rs2147785494
|
|
|
NM_000182.5(HADHA):c.1480-10C>T
|
|
|
|
NM_000182.5(HADHA):c.1480-12T>C
|
|
|
|
NM_000182.5(HADHA):c.1480-139C>G
|
|
|
|
NM_000182.5(HADHA):c.1480-15G>T
|
|
|
|
NM_000182.5(HADHA):c.1480-1G>C
|
rs1558315590
|
|
|
NM_000182.5(HADHA):c.1480-20C>T
|
|
|
|
NM_000182.5(HADHA):c.1480-3C>T
|
|
|
|
NM_000182.5(HADHA):c.1480-8C>T
|
rs1574603649
|
|
|
NM_000182.5(HADHA):c.1482G>T (p.Val494=)
|
|
|
|
NM_000182.5(HADHA):c.1491_1495dup (p.Tyr499fs)
|
rs2147753741
|
|
|
NM_000182.5(HADHA):c.1497C>T (p.Tyr499=)
|
rs373104835
|
|
|
NM_000182.5(HADHA):c.1503T>G (p.Ser501=)
|
|
|
|
NM_000182.5(HADHA):c.1506C>T (p.Pro502=)
|
rs1477172372
|
|
|
NM_000182.5(HADHA):c.1523del (p.Leu508fs)
|
rs754145990
|
|
|
NM_000182.5(HADHA):c.1528G>T (p.Glu510Ter)
|
rs137852769
|
|
|
NM_000182.5(HADHA):c.1538C>T (p.Thr513Met)
|
|
|
|
NM_000182.5(HADHA):c.1539G>T (p.Thr513=)
|
rs755287314
|
|
|
NM_000182.5(HADHA):c.1540del (p.Thr514fs)
|
rs1478391725
|
|
|
NM_000182.5(HADHA):c.1542C>G (p.Thr514=)
|
rs374189575
|
|
|
NM_000182.5(HADHA):c.1545G>A (p.Glu515=)
|
|
|
|
NM_000182.5(HADHA):c.1549del (p.Thr517fs)
|
|
|
|
NM_000182.5(HADHA):c.1554C>G (p.Ser518=)
|
rs765162716
|
|
|
NM_000182.5(HADHA):c.1554del (p.Asp520fs)
|
rs2147753630
|
|
|
NM_000182.5(HADHA):c.1563C>T (p.Thr521=)
|
rs1574603522
|
|
|
NM_000182.5(HADHA):c.1566T>C (p.Ser522=)
|
rs2147753617
|
|
|
NM_000182.5(HADHA):c.156_157del (p.Arg53fs)
|
|
|
|
NM_000182.5(HADHA):c.157C>A (p.Arg53=)
|
rs147103714
|
|
|
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)
|
rs147103714
|
|
|
NM_000182.5(HADHA):c.1581A>C (p.Ala527=)
|
rs2147753600
|
|
|
NM_000182.5(HADHA):c.1584T>C (p.Val528=)
|
rs2147753595
|
|
|
NM_000182.5(HADHA):c.1590C>T (p.Leu530=)
|
rs1250337326
|
|
|
NM_000182.5(HADHA):c.1590del (p.Lys531fs)
|
rs1057516991
|
|
|
NM_000182.5(HADHA):c.160del (p.Ile54fs)
|
|
|
|
NM_000182.5(HADHA):c.1614G>A (p.Val538=)
|
|
|
|
NM_000182.5(HADHA):c.1614G>T (p.Val538=)
|
|
|
|
NM_000182.5(HADHA):c.1618A>G (p.Lys540Glu)
|
|
|
|
NM_000182.5(HADHA):c.161T>G (p.Ile54Ser)
|
rs2147785483
|
|
|
NM_000182.5(HADHA):c.1620+11G>A
|
|
|
|
NM_000182.5(HADHA):c.1620+13A>G
|
|
|
|
NM_000182.5(HADHA):c.1620+19G>A
|
|
|
|
NM_000182.5(HADHA):c.1620+19G>C
|
|
|
|
NM_000182.5(HADHA):c.1620+1del
|
rs2147753555
|
|
|
NM_000182.5(HADHA):c.1620+20_1620+21del
|
rs1064794598
|
|
|
NM_000182.5(HADHA):c.1620+2_1620+6del
|
rs764557236
|
|
|
NM_000182.5(HADHA):c.1620+7G>A
|
rs2147753540
|
|
|
NM_000182.5(HADHA):c.1620+8dup
|
|
|
|
NM_000182.5(HADHA):c.1620+9C>T
|
rs772786562
|
|
|
NM_000182.5(HADHA):c.1621-18T>C
|
rs2147753134
|
|
|
NM_000182.5(HADHA):c.1621-20C>T
|
|
|
|
NM_000182.5(HADHA):c.1621-8del
|
rs1558315187
|
|
|
NM_000182.5(HADHA):c.1623T>C (p.Asp541=)
|
|
|
|
NM_000182.5(HADHA):c.162T>C (p.Ile54=)
|
rs1558331903
|
|
|
NM_000182.5(HADHA):c.1638T>C (p.Tyr546=)
|
rs779881707
|
|
|
NM_000182.5(HADHA):c.1644del (p.Arg549fs)
|
rs1267615713
|
|
|
NM_000182.5(HADHA):c.1652T>G (p.Leu551Arg)
|
|
|
|
NM_000182.5(HADHA):c.1654dup (p.Ala552fs)
|
rs2147753069
|
|
|
NM_000182.5(HADHA):c.1656G>T (p.Ala552=)
|
rs541069396
|
|
|
NM_000182.5(HADHA):c.165C>T (p.Asn55=)
|
|
|
|
NM_000182.5(HADHA):c.1667C>G (p.Ser556Cys)
|
rs2147753043
|
|
|
NM_000182.5(HADHA):c.1679G>A (p.Arg560Gln)
|
rs779324271
|
|
|
NM_000182.5(HADHA):c.1683C>T (p.Ile561=)
|
|
|
|
NM_000182.5(HADHA):c.1686C>G (p.Leu562=)
|
rs757813588
|
|
|
NM_000182.5(HADHA):c.1686C>T (p.Leu562=)
|
rs757813588
|
|
|
NM_000182.5(HADHA):c.1689+16C>T
|
|
|
|
NM_000182.5(HADHA):c.1689+18G>C
|
|
|
|
NM_000182.5(HADHA):c.1689+19_1689+20del
|
|
|
|
NM_000182.5(HADHA):c.1689+2T>C
|
|
|
|
NM_000182.5(HADHA):c.1689+2T>G
|
rs1574602991
|
|
|
NM_000182.5(HADHA):c.1689+8T>C
|
rs576886917
|
|
|
NM_000182.5(HADHA):c.1690-16A>C
|
|
|
|
NM_000182.5(HADHA):c.1690-16A>G
|
|
|
|
NM_000182.5(HADHA):c.1690-17C>A
|
|
|
|
NM_000182.5(HADHA):c.1690-17C>T
|
|
|
|
NM_000182.5(HADHA):c.1690-17_1690-2del
|
rs1669581856
|
|
|
NM_000182.5(HADHA):c.1690-19T>C
|
|
|
|
NM_000182.5(HADHA):c.1690-20C>G
|
|
|
|
NM_000182.5(HADHA):c.16G>A (p.Ala6Thr)
|
|
|
|
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro)
|
rs150565988
|
|
|
NM_000182.5(HADHA):c.1707G>A (p.Lys569=)
|
rs2147752219
|
|
|
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro)
|
rs1553312058
|
|
|
NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs)
|
rs1278248464
|
|
|
NM_000182.5(HADHA):c.1729A>T (p.Ser577Cys)
|
|
|
|
NM_000182.5(HADHA):c.1731C>T (p.Ser577=)
|
rs1308806038
|
|
|
NM_000182.5(HADHA):c.1734T>C (p.Phe578=)
|
rs1343063543
|
|
|
NM_000182.5(HADHA):c.173A>G (p.Asn58Ser)
|
|
|
|
NM_000182.5(HADHA):c.1743T>C (p.Pro581=)
|
rs1669579845
|
|
|
NM_000182.5(HADHA):c.1745T>C (p.Val582Ala)
|
rs1574602341
|
|
|
NM_000182.5(HADHA):c.1758A>G (p.Thr586=)
|
rs974621601
|
|
|
NM_000182.5(HADHA):c.1759C>T (p.Leu587=)
|
rs2147752154
|
|
|
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
|
|
|
|
NM_000182.5(HADHA):c.1761G>A (p.Leu587=)
|
|
|
|
NM_000182.5(HADHA):c.1770A>G (p.Glu590=)
|
rs2147752135
|
|
|
NM_000182.5(HADHA):c.1772T>G (p.Val591Gly)
|
rs1574602310
|
|
|
NM_000182.5(HADHA):c.1776T>C (p.Gly592=)
|
|
|
|
NM_000182.5(HADHA):c.177A>C (p.Ser59=)
|
rs1574627624
|
|
|
NM_000182.5(HADHA):c.1785A>T (p.Val595=)
|
rs2147752107
|
|
|
NM_000182.5(HADHA):c.17C>T (p.Ala6Val)
|
|
|
|
NM_000182.5(HADHA):c.180+14T>A
|
|
|
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
|
|
NM_000182.5(HADHA):c.180+20G>A
|
|
|
|
NM_000182.5(HADHA):c.180+7C>G
|
|
|
|
NM_000182.5(HADHA):c.1801G>A (p.Glu601Lys)
|
|
|
|
NM_000182.5(HADHA):c.1807C>T (p.Leu603=)
|
|
|
|
NM_000182.5(HADHA):c.1808T>C (p.Leu603Pro)
|
|
|
|
NM_000182.5(HADHA):c.181-15A>G
|
|
|
|
NM_000182.5(HADHA):c.181-17A>G
|
|
|
|
NM_000182.5(HADHA):c.181-8T>A
|
rs1670779458
|
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
|
NM_000182.5(HADHA):c.1812C>T (p.Gly604=)
|
|
|
|
NM_000182.5(HADHA):c.1828C>A (p.Arg610=)
|
rs267599303
|
|
|
NM_000182.5(HADHA):c.1830G>A (p.Arg610=)
|
|
|
|
NM_000182.5(HADHA):c.1833T>C (p.Phe611=)
|
|
|
|
NM_000182.5(HADHA):c.1854G>A (p.Leu618=)
|
|
|
|
NM_000182.5(HADHA):c.1857G>C (p.Leu619=)
|
|
|
|
NM_000182.5(HADHA):c.1863G>A (p.Gln621=)
|
rs1396271017
|
|
|
NM_000182.5(HADHA):c.1867G>A (p.Val623Met)
|
|
|
|
NM_000182.5(HADHA):c.1869G>A (p.Val623=)
|
rs2147751984
|
|
|
NM_000182.5(HADHA):c.1878C>T (p.Gly626=)
|
|
|
|
NM_000182.5(HADHA):c.1885+12C>G
|
|
|
|
NM_000182.5(HADHA):c.1885+14A>G
|
|
|
|
NM_000182.5(HADHA):c.1886-13T>G
|
|
|
|
NM_000182.5(HADHA):c.1886-14C>T
|
|
|
|
NM_000182.5(HADHA):c.1886-44_1886-18del
|
rs772436809
|
|
|
NM_000182.5(HADHA):c.1886-44_1886-18dup
|
|
|
|
NM_000182.5(HADHA):c.1886-7G>A
|
rs2147750524
|
|
|
NM_000182.5(HADHA):c.1888C>G (p.Arg630Gly)
|
|
|
|
NM_000182.5(HADHA):c.1890T>C (p.Arg630=)
|
rs1331075824
|
|
|
NM_000182.5(HADHA):c.1893del (p.Lys631fs)
|
|
|
|
NM_000182.5(HADHA):c.189A>C (p.Thr63=)
|
rs748187062
|
|
|
NM_000182.5(HADHA):c.189A>T (p.Thr63=)
|
rs748187062
|
|
|
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs)
|
rs1057517397
|
|
|
NM_000182.5(HADHA):c.1917T>A (p.Tyr639Ter)
|
|
|
|
NM_000182.5(HADHA):c.1921del (p.Glu641fs)
|
|
|
|
NM_000182.5(HADHA):c.1926T>C (p.Gly642=)
|
|
|
|
NM_000182.5(HADHA):c.192G>A (p.Leu64=)
|
rs2147784458
|
|
|
NM_000182.5(HADHA):c.1931A>G (p.Lys644Arg)
|
|
|
|
NM_000182.5(HADHA):c.1932G>A (p.Lys644=)
|
rs765574028
|
|
|
NM_000182.5(HADHA):c.1961G>A (p.Ser654Asn)
|
|
|
|
NM_000182.5(HADHA):c.1962T>C (p.Ser654=)
|
rs1669532360
|
|
|
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)
|
rs779113356
|
|
|
NM_000182.5(HADHA):c.1971G>A (p.Ala657=)
|
rs570854524
|
|
|
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
|
|
NM_000182.5(HADHA):c.1983G>A (p.Leu661=)
|
rs2147750371
|
|
|
NM_000182.5(HADHA):c.1990_1993dup (p.Ser665Ter)
|
rs757671025
|
|
|
NM_000182.5(HADHA):c.1994C>T (p.Ser665Phe)
|
rs1669530829
|
|
|
NM_000182.5(HADHA):c.2000+1G>A
|
|
|
|
NM_000182.5(HADHA):c.2000+1G>C
|
rs1167218743
|
|
|
NM_000182.5(HADHA):c.2000+5G>C
|
|
|
|
NM_000182.5(HADHA):c.2000+9G>T
|
rs200802583
|
|
|
NM_000182.5(HADHA):c.2001-10C>G
|
|
|
|
NM_000182.5(HADHA):c.2001-10C>T
|
rs1463681982
|
|
|
NM_000182.5(HADHA):c.2001-13T>C
|
|
|
|
NM_000182.5(HADHA):c.2001-14C>T
|
|
|
|
NM_000182.5(HADHA):c.2001-16C>G
|
|
|
|
NM_000182.5(HADHA):c.2001-18A>G
|
|
|
|
NM_000182.5(HADHA):c.2001-18_2001-16dup
|
|
|
|
NM_000182.5(HADHA):c.2001-4G>A
|
|
|
|
NM_000182.5(HADHA):c.2004A>T (p.Ser668=)
|
|
|
|
NM_000182.5(HADHA):c.2005T>G (p.Ser669Ala)
|
rs1669507749
|
|
|
NM_000182.5(HADHA):c.2010del (p.Asp670fs)
|
|
|
|
NM_000182.5(HADHA):c.2011del (p.Glu671fs)
|
|
|
|
NM_000182.5(HADHA):c.2019C>T (p.Ile673=)
|
|
|
|
NM_000182.5(HADHA):c.2020C>T (p.Gln674Ter)
|
rs2147749450
|
|
|
NM_000182.5(HADHA):c.2020dup (p.Gln674fs)
|
|
|
|
NM_000182.5(HADHA):c.2027G>A (p.Arg676His)
|
rs1204190984
|
|
|
NM_000182.5(HADHA):c.2027G>T (p.Arg676Leu)
|
rs1204190984
|
|
|
NM_000182.5(HADHA):c.202C>T (p.Leu68=)
|
|
|
|
NM_000182.5(HADHA):c.2039_2040dup (p.Phe681fs)
|
|
|
|
NM_000182.5(HADHA):c.204A>G (p.Leu68=)
|
|
|
|
NM_000182.5(HADHA):c.2063_2087dup (p.Glu699fs)
|
|
|
|
NM_000182.5(HADHA):c.2073G>A (p.Glu691=)
|
rs2147749350
|
|
|
NM_000182.5(HADHA):c.2076G>T (p.Gly692=)
|
|
|
|
NM_000182.5(HADHA):c.2077A>G (p.Ile693Val)
|
|
|
|
NM_000182.5(HADHA):c.2085C>T (p.Ala695=)
|
|
|
|
NM_000182.5(HADHA):c.2087C>T (p.Thr696Ile)
|
rs2147749338
|
|
|
NM_000182.5(HADHA):c.2091T>G (p.Pro697=)
|
rs2147749333
|
|
|
NM_000182.5(HADHA):c.2094A>G (p.Ala698=)
|
rs757938383
|
|
|
NM_000182.5(HADHA):c.2100A>G (p.Gly700=)
|
|
|
|
NM_000182.5(HADHA):c.2109A>G (p.Gly703=)
|
|
|
|
NM_000182.5(HADHA):c.2127C>G (p.Gly709=)
|
|
|
|
NM_000182.5(HADHA):c.2132dup (p.Pro712fs)
|
rs1574600309
|
|
|
NM_000182.5(HADHA):c.213G>A (p.Glu71=)
|
rs532314552
|
|
|
NM_000182.5(HADHA):c.2146+12A>G
|
|
|
|
NM_000182.5(HADHA):c.2146+17G>A
|
|
|
|
NM_000182.5(HADHA):c.2146+19G>A
|
|
|
|
NM_000182.5(HADHA):c.2146+19G>C
|
|
|
|
NM_000182.5(HADHA):c.2146+1G>A
|
rs794727219
|
|
|
NM_000182.5(HADHA):c.2146+20A>C
|
|
|
|
NM_000182.5(HADHA):c.2146+9C>A
|
|
|
|
NM_000182.5(HADHA):c.2146+9C>G
|
|
|
|
NM_000182.5(HADHA):c.2147-10C>A
|
|
|
|
NM_000182.5(HADHA):c.2147-12_2147-11del
|
|
|
|
NM_000182.5(HADHA):c.2147-2A>G
|
|
|
|
NM_000182.5(HADHA):c.2147-5T>C
|
rs2147748983
|
|
|
NM_000182.5(HADHA):c.2147-7_2147-6insGA
|
rs767103938
|
|
|
NM_000182.5(HADHA):c.2147-8C>T
|
|
|
|
NM_000182.5(HADHA):c.2167_2168dup (p.Tyr724fs)
|
|
|
|
NM_000182.5(HADHA):c.216C>T (p.Phe72=)
|
rs1670777856
|
|
|
NM_000182.5(HADHA):c.2172T>C (p.Tyr724=)
|
|
|
|
NM_000182.5(HADHA):c.2178C>T (p.Ala726=)
|
|
|
|
NM_000182.5(HADHA):c.217T>C (p.Ser73Pro)
|
|
|
|
NM_000182.5(HADHA):c.2185A>G (p.Ile729Val)
|
|
|
|
NM_000182.5(HADHA):c.2193C>T (p.Asp731=)
|
|
|
|
NM_000182.5(HADHA):c.2194C>A (p.Arg732=)
|
|
|
|
NM_000182.5(HADHA):c.2194C>T (p.Arg732Trp)
|
|
|
|
NM_000182.5(HADHA):c.2196G>A (p.Arg732=)
|
|
|
|
NM_000182.5(HADHA):c.2198T>C (p.Leu733Pro)
|
rs2147748812
|
|
|
NM_000182.5(HADHA):c.2199C>T (p.Leu733=)
|
|
|
|
NM_000182.5(HADHA):c.2202G>A (p.Lys734=)
|
rs2147748806
|
|
|
NM_000182.5(HADHA):c.2208T>A (p.Tyr736Ter)
|
rs774114061
|
|
|
NM_000182.5(HADHA):c.2209G>C (p.Glu737Gln)
|
|
|
|
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser)
|
rs141164185
|
|
|
NM_000182.5(HADHA):c.2220T>C (p.Tyr740=)
|
rs142120825
|
|
|
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)
|
rs868816467
|
|
|
NM_000182.5(HADHA):c.2229_2233dup (p.Thr745fs)
|
|
|
|
NM_000182.5(HADHA):c.2231del (p.Phe744fs)
|
|
|
|
NM_000182.5(HADHA):c.2235C>T (p.Thr745=)
|
|
|
|
NM_000182.5(HADHA):c.2241C>T (p.Cys747=)
|
|
|
|
NM_000182.5(HADHA):c.2259T>C (p.His753=)
|
rs1669489360
|
|
|
NM_000182.5(HADHA):c.2262T>C (p.Ala754=)
|
rs1423314926
|
|
|
NM_000182.5(HADHA):c.2265C>T (p.Asn755=)
|
rs2147748705
|
|
|
NM_000182.5(HADHA):c.2268C>T (p.Ser756=)
|
|
|
|
NM_000182.5(HADHA):c.2283C>T (p.Phe761=)
|
|
|
|
NM_000182.5(HADHA):c.2286C>T (p.Tyr762=)
|
rs2147748660
|
|
|
NM_000182.5(HADHA):c.2289G>A (p.Gln763=)
|
|
|
|
NM_000182.5(HADHA):c.2291G>A (p.Ter764=)
|
|
|
|
NM_000182.5(HADHA):c.230A>G (p.Asn77Ser)
|
|
|
|
NM_000182.5(HADHA):c.238del (p.Trp80fs)
|
|
|
|
NM_000182.5(HADHA):c.243T>C (p.Ala81=)
|
|
|
|
NM_000182.5(HADHA):c.24C>A (p.Gly8=)
|
rs942208244
|
|
|
NM_000182.5(HADHA):c.258A>G (p.Arg86=)
|
|
|
|
NM_000182.5(HADHA):c.264C>G (p.Ala88=)
|
|
|
|
NM_000182.5(HADHA):c.265G>A (p.Val89Ile)
|
|
|
|
NM_000182.5(HADHA):c.269T>G (p.Leu90Arg)
|
rs2147784395
|
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
|
NM_000182.5(HADHA):c.276A>G (p.Ser92=)
|
|
|
|
NM_000182.5(HADHA):c.279A>G (p.Ser93=)
|
|
|
|
NM_000182.5(HADHA):c.282G>C (p.Lys94Asn)
|
|
|
|
NM_000182.5(HADHA):c.291C>T (p.Cys97=)
|
|
|
|
NM_000182.5(HADHA):c.294del (p.Phe98fs)
|
rs2147784383
|
|
|
NM_000182.5(HADHA):c.297T>C (p.Ile99=)
|
|
|
|
NM_000182.5(HADHA):c.300A>G (p.Ala100=)
|
rs1335136331
|
|
|
NM_000182.5(HADHA):c.303T>G (p.Gly101=)
|
rs1670773890
|
|
|
NM_000182.5(HADHA):c.306T>C (p.Ala102=)
|
|
|
|
NM_000182.5(HADHA):c.30C>A (p.Leu10=)
|
|
|
|
NM_000182.5(HADHA):c.30C>G (p.Leu10=)
|
rs1221423725
|
|
|
NM_000182.5(HADHA):c.310dup (p.Ile104fs)
|
rs1670773680
|
|
|
NM_000182.5(HADHA):c.314+11G>A
|
|
|
|
NM_000182.5(HADHA):c.314+12G>T
|
|
|
|
NM_000182.5(HADHA):c.314+14A>C
|
|
|
|
NM_000182.5(HADHA):c.314+15A>G
|
|
|
|
NM_000182.5(HADHA):c.314+17T>C
|
|
|
|
NM_000182.5(HADHA):c.314+18dup
|
rs2147784338
|
|
|
NM_000182.5(HADHA):c.314+19G>A
|
|
|
|
NM_000182.5(HADHA):c.314+1G>C
|
|
|
|
NM_000182.5(HADHA):c.314+2T>G
|
|
|
|
NM_000182.5(HADHA):c.314+8T>A
|
|
|
|
NM_000182.5(HADHA):c.315-16T>A
|
|
|
|
NM_000182.5(HADHA):c.315-2A>T
|
|
|
|
NM_000182.5(HADHA):c.327T>C (p.Ala109=)
|
|
|
|
NM_000182.5(HADHA):c.336C>A (p.Thr112=)
|
|
|
|
NM_000182.5(HADHA):c.33C>T (p.Ser11=)
|
rs1574631841
|
|
|
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter)
|
rs1670695733
|
|
|
NM_000182.5(HADHA):c.345A>G (p.Glu115=)
|
|
|
|
NM_000182.5(HADHA):c.348A>G (p.Val116=)
|
rs2147782544
|
|
|
NM_000182.5(HADHA):c.352_353del (p.Gln118fs)
|
rs1670695370
|
|
|
NM_000182.5(HADHA):c.362A>G (p.Gln121Arg)
|
|
|
|
NM_000182.5(HADHA):c.36C>A (p.Arg12=)
|
rs2147789735
|
|
|
NM_000182.5(HADHA):c.384G>A (p.Glu128=)
|
|
|
|
NM_000182.5(HADHA):c.387_388del (p.Lys129fs)
|
rs780350631
|
|
|
NM_000182.5(HADHA):c.402A>G (p.Thr134=)
|
|
|
|
NM_000182.5(HADHA):c.411T>C (p.Ile137=)
|
rs1574625100
|
|
|
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe)
|
rs758107197
|
|
|
NM_000182.5(HADHA):c.432C>A (p.Ser144=)
|
rs2147782494
|
|
|
NM_000182.5(HADHA):c.432C>G (p.Ser144=)
|
rs2147782494
|
|
|
NM_000182.5(HADHA):c.453+12C>G
|
|
|
|
NM_000182.5(HADHA):c.453+14A>G
|
|
|
|
NM_000182.5(HADHA):c.453+14A>T
|
|
|
|
NM_000182.5(HADHA):c.453+1G>A
|
rs1057516417
|
|
|
NM_000182.5(HADHA):c.453+20_453+22del
|
|
|
|
NM_000182.5(HADHA):c.453+9A>G
|
|
|
|
NM_000182.5(HADHA):c.454-12A>G
|
|
|
|
NM_000182.5(HADHA):c.454-12_454-11del
|
|
|
|
NM_000182.5(HADHA):c.454-13C>A
|
|
|
|
NM_000182.5(HADHA):c.454-17C>G
|
|
|
|
NM_000182.5(HADHA):c.454-5C>T
|
|
|
|
NM_000182.5(HADHA):c.454-8G>T
|
rs1175400236
|
|
|
NM_000182.5(HADHA):c.45C>T (p.Ala15=)
|
|
|
|
NM_000182.5(HADHA):c.467G>A (p.Cys156Tyr)
|
rs1670643151
|
|
|
NM_000182.5(HADHA):c.469C>T (p.Gln157Ter)
|
|
|
|
NM_000182.5(HADHA):c.496A>G (p.Lys166Glu)
|
|
|
|
NM_000182.5(HADHA):c.501A>G (p.Thr167=)
|
|
|
|
NM_000182.5(HADHA):c.507A>G (p.Leu169=)
|
|
|
|
NM_000182.5(HADHA):c.512C>T (p.Thr171Ile)
|
|
|
|
NM_000182.5(HADHA):c.513C>T (p.Thr171=)
|
|
|
|
NM_000182.5(HADHA):c.540A>G (p.Pro180=)
|
|
|
|
NM_000182.5(HADHA):c.546A>G (p.Ala182=)
|
|
|
|
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter)
|
rs2147781182
|
|
|
NM_000182.5(HADHA):c.558A>G (p.Gln186=)
|
|
|
|
NM_000182.5(HADHA):c.560G>A (p.Arg187Lys)
|
|
|
|
NM_000182.5(HADHA):c.564G>A (p.Leu188=)
|
rs2147781176
|
|
|
NM_000182.5(HADHA):c.567C>G (p.Pro189=)
|
|
|
|
NM_000182.5(HADHA):c.573+15C>T
|
|
|
|
NM_000182.5(HADHA):c.573+1G>A
|
|
|
|
NM_000182.5(HADHA):c.573+7C>G
|
|
|
|
NM_000182.5(HADHA):c.573+8T>C
|
rs2147781158
|
|
|
NM_000182.5(HADHA):c.573G>A (p.Met191Ile)
|
rs2147781167
|
|
|
NM_000182.5(HADHA):c.574-13G>A
|
|
|
|
NM_000182.5(HADHA):c.574-13G>T
|
|
|
|
NM_000182.5(HADHA):c.574-17C>T
|
|
|
|
NM_000182.5(HADHA):c.574-2A>G
|
rs1670591013
|
|
|
NM_000182.5(HADHA):c.574-4T>G
|
|
|
|
NM_000182.5(HADHA):c.574-4dup
|
rs763636903
|
|
|
NM_000182.5(HADHA):c.574-5G>A
|
rs1248416510
|
|
|
NM_000182.5(HADHA):c.574-6T>C
|
|
|
|
NM_000182.5(HADHA):c.574-9G>T
|
|
|
|
NM_000182.5(HADHA):c.57C>G (p.Leu19=)
|
|
|
|
NM_000182.5(HADHA):c.592T>C (p.Leu198=)
|
|
|
|
NM_000182.5(HADHA):c.594G>A (p.Leu198=)
|
|
|
|
NM_000182.5(HADHA):c.609T>G (p.Thr203=)
|
rs2147779949
|
|
|
NM_000182.5(HADHA):c.612T>A (p.Gly204=)
|
rs2147779944
|
|
|
NM_000182.5(HADHA):c.612dup (p.Arg205Ter)
|
rs1574623071
|
|
|
NM_000182.5(HADHA):c.621T>C (p.Ile207=)
|
|
|
|
NM_000182.5(HADHA):c.623G>A (p.Arg208His)
|
|
|
|
NM_000182.5(HADHA):c.624T>C (p.Arg208=)
|
rs2147779940
|
|
|
NM_000182.5(HADHA):c.627A>G (p.Ala209=)
|
|
|
|
NM_000182.5(HADHA):c.633G>A (p.Arg211=)
|
rs2147779928
|
|
|
NM_000182.5(HADHA):c.637_638del (p.Lys213fs)
|
|
|
|
NM_000182.5(HADHA):c.63C>T (p.Ser21=)
|
rs2147789695
|
|
|
NM_000182.5(HADHA):c.651G>T (p.Leu217=)
|
|
|
|
NM_000182.5(HADHA):c.654T>C (p.Val218=)
|
|
|
|
NM_000182.5(HADHA):c.661C>T (p.Leu221=)
|
rs1574623021
|
|
|
NM_000182.5(HADHA):c.669A>G (p.Glu223=)
|
rs748977241
|
|
|
NM_000182.5(HADHA):c.67+13C>G
|
|
|
|
NM_000182.5(HADHA):c.67+14G>A
|
|
|
|
NM_000182.5(HADHA):c.67+16G>C
|
|
|
|
NM_000182.5(HADHA):c.67+18G>A
|
|
|
|
NM_000182.5(HADHA):c.67+18G>T
|
|
|
|
NM_000182.5(HADHA):c.67+9T>C
|
|
|
|
NM_000182.5(HADHA):c.676+1G>A
|
rs1670587668
|
|
|
NM_000182.5(HADHA):c.677-16G>T
|
|
|
|
NM_000182.5(HADHA):c.677-17T>A
|
|
|
|
NM_000182.5(HADHA):c.677-20T>C
|
|
|
|
NM_000182.5(HADHA):c.677-2A>G
|
|
|
|
NM_000182.5(HADHA):c.677-6T>C
|
rs2147770003
|
|
|
NM_000182.5(HADHA):c.677-9T>C
|
rs2147770005
|
|
|
NM_000182.5(HADHA):c.678A>C (p.Gly226=)
|
|
|
|
NM_000182.5(HADHA):c.68-12C>G
|
|
|
|
NM_000182.5(HADHA):c.68-12C>T
|
|
|
|
NM_000182.5(HADHA):c.68-14G>A
|
|
|
|
NM_000182.5(HADHA):c.68-16A>C
|
|
|
|
NM_000182.5(HADHA):c.68-18A>T
|
|
|
|
NM_000182.5(HADHA):c.68-4A>G
|
|
|
|
NM_000182.5(HADHA):c.68-7C>T
|
rs1670832440
|
|
|
NM_000182.5(HADHA):c.687A>G (p.Leu229=)
|
rs2147769994
|
|
|
NM_000182.5(HADHA):c.690del (p.Lys230fs)
|
rs2147769993
|
|
|
NM_000182.5(HADHA):c.693T>C (p.Pro231=)
|
|
|
|
NM_000182.5(HADHA):c.6_24dup (p.Ile9fs)
|
rs1456890163
|
|
|
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)
|
rs786204607
|
|
|
NM_000182.5(HADHA):c.703_704dup (p.Thr236fs)
|
|
|
|
NM_000182.5(HADHA):c.704G>A (p.Arg235Gln)
|
|
|
|
NM_000182.5(HADHA):c.70dup (p.Tyr24fs)
|
|
|
|
NM_000182.5(HADHA):c.711A>G (p.Ile237Met)
|
|
|
|
NM_000182.5(HADHA):c.713A>C (p.Glu238Ala)
|
|
|
|
NM_000182.5(HADHA):c.72T>C (p.Tyr24=)
|
|
|
|
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)
|
rs1553316176
|
|
|
NM_000182.5(HADHA):c.734T>G (p.Ile245Ser)
|
|
|
|
NM_000182.5(HADHA):c.73A>G (p.Ile25Val)
|
|
|
|
NM_000182.5(HADHA):c.743C>T (p.Ala248Val)
|
rs199688741
|
|
|
NM_000182.5(HADHA):c.744C>G (p.Ala248=)
|
|
|
|
NM_000182.5(HADHA):c.744C>T (p.Ala248=)
|
|
|
|
NM_000182.5(HADHA):c.750A>G (p.Gly250=)
|
|
|
|
NM_000182.5(HADHA):c.759T>C (p.Asp253=)
|
|
|
|
NM_000182.5(HADHA):c.761_764del (p.Lys254fs)
|
|
|
|
NM_000182.5(HADHA):c.767T>A (p.Ile256Asn)
|
rs1490396477
|
|
|
NM_000182.5(HADHA):c.774A>G (p.Pro258=)
|
rs2147769914
|
|
|
NM_000182.5(HADHA):c.785A>C (p.Lys262Thr)
|
|
|
|
NM_000182.5(HADHA):c.790T>C (p.Leu264=)
|
|
|
|
NM_000182.5(HADHA):c.799+10A>C
|
rs2147769884
|
|
|
NM_000182.5(HADHA):c.799+13G>A
|
|
|
|
NM_000182.5(HADHA):c.799+18dup
|
|
|
|
NM_000182.5(HADHA):c.799+1G>A
|
|
|
|
NM_000182.5(HADHA):c.799+5G>A
|
|
|
|
NM_000182.5(HADHA):c.799+7A>G
|
|
|
|
NM_000182.5(HADHA):c.799+8T>A
|
rs1451443100
|
|
|
NM_000182.5(HADHA):c.800-16del
|
|
|
|
NM_000182.5(HADHA):c.800-20A>G
|
|
|
|
NM_000182.5(HADHA):c.800-9A>G
|
rs2147769623
|
|
|
NM_000182.5(HADHA):c.800A>G (p.Lys267Arg)
|
|
|
|
NM_000182.5(HADHA):c.808G>A (p.Ala270Thr)
|
rs1574615066
|
|
|
NM_000182.5(HADHA):c.80G>A (p.Arg27His)
|
rs200145855
|
|
|
NM_000182.5(HADHA):c.80G>T (p.Arg27Leu)
|
rs200145855
|
|
|
NM_000182.5(HADHA):c.815C>A (p.Ala272Asp)
|
|
|
|
NM_000182.5(HADHA):c.81C>T (p.Arg27=)
|
|
|
|
NM_000182.5(HADHA):c.841C>T (p.Gln281Ter)
|
|
|
|
NM_000182.5(HADHA):c.844_845insA (p.Val282fs)
|
rs774235292
|
|
|
NM_000182.5(HADHA):c.846T>A (p.Val282=)
|
rs1574615034
|
|
|
NM_000182.5(HADHA):c.849C>T (p.Tyr283=)
|
|
|
|
NM_000182.5(HADHA):c.870G>A (p.Val290=)
|
rs771022089
|
|
|
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)
|
rs137852775
|
|
|
NM_000182.5(HADHA):c.878dup (p.Thr294fs)
|
|
|
|
NM_000182.5(HADHA):c.879G>A (p.Gln293=)
|
|
|
|
NM_000182.5(HADHA):c.882T>A (p.Thr294=)
|
|
|
|
NM_000182.5(HADHA):c.882T>C (p.Thr294=)
|
rs769959246
|
|
|
NM_000182.5(HADHA):c.891T>A (p.Leu297=)
|
rs748396892
|
|
|
NM_000182.5(HADHA):c.893del (p.Tyr298fs)
|
|
|
|
NM_000182.5(HADHA):c.901C>A (p.Pro301Thr)
|
|
|
|
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)
|
rs137852774
|
|
|
NM_000182.5(HADHA):c.918+15A>G
|
|
|
|
NM_000182.5(HADHA):c.918+16T>G
|
|
|
|
NM_000182.5(HADHA):c.918+20C>T
|
|
|
|
NM_000182.5(HADHA):c.919-10T>C
|
rs2147768564
|
|
|
NM_000182.5(HADHA):c.919-11A>G
|
|
|
|
NM_000182.5(HADHA):c.919-15T>G
|
|
|
|
NM_000182.5(HADHA):c.919-7T>G
|
rs2147768563
|
|
|
NM_000182.5(HADHA):c.930T>C (p.Thr310=)
|
rs1670129457
|
|
|
NM_000182.5(HADHA):c.930_931del (p.Gly311fs)
|
|
|
|
NM_000182.5(HADHA):c.93G>A (p.Gly31=)
|
rs2147785589
|
|
|
NM_000182.5(HADHA):c.944G>A (p.Gly315Glu)
|
|
|
|
NM_000182.5(HADHA):c.944_956del (p.Gly315fs)
|
|
|
|
NM_000182.5(HADHA):c.954C>A (p.Ala318=)
|
|
|
|
NM_000182.5(HADHA):c.957T>C (p.Gly319=)
|
|
|
|
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer)
|
rs2147768516
|
|
|
NM_000182.5(HADHA):c.975+12del
|
|
|
|
NM_000182.5(HADHA):c.975+17dup
|
|
|
|
NM_000182.5(HADHA):c.975+20A>G
|
|
|
|
NM_000182.5(HADHA):c.975G>A (p.Gln325=)
|
rs751970693
|
|
|
NM_000182.5(HADHA):c.976-10T>A
|
|
|
|
NM_000182.5(HADHA):c.976-12T>C
|
|
|
|
NM_000182.5(HADHA):c.976-18T>C
|
|
|
|
NM_000182.5(HADHA):c.976-19A>C
|
rs2147766738
|
|
|
NM_000182.5(HADHA):c.976-1G>T
|
rs2147766716
|
|
|
NM_000182.5(HADHA):c.976-20C>T
|
|
|
|
NM_000182.5(HADHA):c.984A>G (p.Gly328=)
|
|
|
|
NM_000182.5(HADHA):c.990T>C (p.Leu330=)
|
rs1433589314
|
|
|
NM_000182.5(HADHA):c.995T>C (p.Met332Thr)
|
|
|
|
NM_000182.5(HADHA):c.995T>G (p.Met332Arg)
|
rs752285354
|
|
|
NM_000182.5(HADHA):c.999C>A (p.Thr333=)
|
rs2147766687
|
|
|
NM_000183.3(HADHB):c.1009T>C (p.Leu337=)
|
|
|
|
NM_000183.3(HADHB):c.1013+18A>G
|
|
|
|
NM_000183.3(HADHB):c.1013+19C>G
|
|
|
|
NM_000183.3(HADHB):c.1013+19C>T
|
|
|
|
NM_000183.3(HADHB):c.1013+21_1013+25dup
|
|
|
|
NM_000183.3(HADHB):c.1014-15dup
|
|
|
|
NM_000183.3(HADHB):c.1014-18C>G
|
|
|
|
NM_000183.3(HADHB):c.1014-2A>T
|
|
|
|
NM_000183.3(HADHB):c.1014-4C>G
|
|
|
|
NM_000183.3(HADHB):c.1014-4C>T
|
|
|
|
NM_000183.3(HADHB):c.1014-7T>C
|
rs2147830061
|
|
|
NM_000183.3(HADHB):c.1026T>C (p.Tyr342=)
|
|
|
|
NM_000183.3(HADHB):c.1044A>C (p.Lys348Asn)
|
rs1038882025
|
|
|
NM_000183.3(HADHB):c.1048C>A (p.Gln350Lys)
|
|
|
|
NM_000183.3(HADHB):c.1053A>G (p.Leu351=)
|
|
|
|
NM_000183.3(HADHB):c.1061+17A>G
|
|
|
|
NM_000183.3(HADHB):c.1061+3A>G
|
|
|
|
NM_000183.3(HADHB):c.1062-14T>C
|
|
|
|
NM_000183.3(HADHB):c.1062-16T>C
|
|
|
|
NM_000183.3(HADHB):c.1062-18_1062-15del
|
|
|
|
NM_000183.3(HADHB):c.1062-1G>T
|
|
|
|
NM_000183.3(HADHB):c.1062-9dup
|
|
|
|
NM_000183.3(HADHB):c.106C>T (p.Pro36Ser)
|
|
|
|
NM_000183.3(HADHB):c.1071T>C (p.Tyr357=)
|
|
|
|
NM_000183.3(HADHB):c.109+4C>T
|
rs769724590
|
|
|
NM_000183.3(HADHB):c.109+5A>G
|
|
|
|
NM_000183.3(HADHB):c.1098A>G (p.Ala366=)
|
|
|
|
NM_000183.3(HADHB):c.109G>C (p.Ala37Pro)
|
|
|
|
NM_000183.3(HADHB):c.110-1G>A
|
|
|
|
NM_000183.3(HADHB):c.110-2A>T
|
|
|
|
NM_000183.3(HADHB):c.1110G>C (p.Met370Ile)
|
|
|
|
NM_000183.3(HADHB):c.1123G>A (p.Ala375Thr)
|
rs1558360702
|
|
|
NM_000183.3(HADHB):c.1128T>G (p.Phe376Leu)
|
rs2147831395
|
|
|
NM_000183.3(HADHB):c.112G>T (p.Val38Phe)
|
|
|
|
NM_000183.3(HADHB):c.1137T>C (p.His379=)
|
|
|
|
NM_000183.3(HADHB):c.1137del (p.His379fs)
|
|
|
|
NM_000183.3(HADHB):c.1142C>T (p.Ala381Val)
|
rs774703599
|
|
|
NM_000183.3(HADHB):c.1149+17A>T
|
|
|
|
NM_000183.3(HADHB):c.1149+19A>T
|
|
|
|
NM_000183.3(HADHB):c.1149+1G>T
|
|
|
|
NM_000183.3(HADHB):c.1149+2T>C
|
|
|
|
NM_000183.3(HADHB):c.1149+4A>G
|
rs2303893
|
|
|
NM_000183.3(HADHB):c.1150-13T>C
|
|
|
|
NM_000183.3(HADHB):c.1150-18G>A
|
|
|
|
NM_000183.3(HADHB):c.1150-18G>T
|
|
|
|
NM_000183.3(HADHB):c.1150-19C>T
|
|
|
|
NM_000183.3(HADHB):c.1150-1G>C
|
|
|
|
NM_000183.3(HADHB):c.1150-1G>T
|
|
|
|
NM_000183.3(HADHB):c.1150-20T>G
|
|
|
|
NM_000183.3(HADHB):c.1150-2A>G
|
rs2147832276
|
|
|
NM_000183.3(HADHB):c.1173A>G (p.Lys391=)
|
|
|
|
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val)
|
rs764623179
|
|
|
NM_000183.3(HADHB):c.1176C>A (p.Ala392=)
|
|
|
|
NM_000183.3(HADHB):c.1180G>T (p.Asp394Tyr)
|
|
|
|
NM_000183.3(HADHB):c.1186G>T (p.Asp396Tyr)
|
rs2147832336
|
|
|
NM_000183.3(HADHB):c.1203C>A (p.Asn401Lys)
|
|
|
|
NM_000183.3(HADHB):c.1212T>C (p.Gly404=)
|
|
|
|
NM_000183.3(HADHB):c.1221C>G (p.Thr407=)
|
|
|
|
NM_000183.3(HADHB):c.1224+10T>C
|
|
|
|
NM_000183.3(HADHB):c.1224+11A>G
|
|
|
|
NM_000183.3(HADHB):c.1224+16T>A
|
|
|
|
NM_000183.3(HADHB):c.1224+1G>A
|
|
|
|
NM_000183.3(HADHB):c.1224+9C>A
|
|
|
|
NM_000183.3(HADHB):c.1225-11G>T
|
|
|
|
NM_000183.3(HADHB):c.1225-15C>G
|
|
|
|
NM_000183.3(HADHB):c.1225-1G>A
|
|
|
|
NM_000183.3(HADHB):c.1225-6A>T
|
|
|
|
NM_000183.3(HADHB):c.1254T>C (p.Asn418=)
|
|
|
|
NM_000183.3(HADHB):c.1269T>C (p.Ser423=)
|
|
|
|
NM_000183.3(HADHB):c.1279G>A (p.Gly427Arg)
|
|
|
|
NM_000183.3(HADHB):c.1279G>T (p.Gly427Ter)
|
|
|
|
NM_000183.3(HADHB):c.1284C>T (p.His428=)
|
|
|
|
NM_000183.3(HADHB):c.1287A>G (p.Pro429=)
|
|
|
|
NM_000183.3(HADHB):c.1296C>T (p.Ala432=)
|
|
|
|
NM_000183.3(HADHB):c.1309T>C (p.Leu437=)
|
|
|
|
NM_000183.3(HADHB):c.1319C>G (p.Ala440Gly)
|
|
|
|
NM_000183.3(HADHB):c.1321G>A (p.Ala441Thr)
|
|
|
|
NM_000183.3(HADHB):c.1341A>G (p.Lys447=)
|
|
|
|
NM_000183.3(HADHB):c.1350C>A (p.Gly450=)
|
|
|
|
NM_000183.3(HADHB):c.1353G>A (p.Gln451=)
|
|
|
|
NM_000183.3(HADHB):c.1357G>A (p.Gly453Ser)
|
|
|
|
NM_000183.3(HADHB):c.1359C>T (p.Gly453=)
|
|
|
|
NM_000183.3(HADHB):c.135G>T (p.Thr45=)
|
|
|
|
NM_000183.3(HADHB):c.1364T>G (p.Val455Gly)
|
rs267606859
|
|
|
NM_000183.3(HADHB):c.1368T>C (p.Ala456=)
|
|
|
|
NM_000183.3(HADHB):c.1371G>A (p.Ala457=)
|
rs72851542
|
|
|
NM_000183.3(HADHB):c.1371G>T (p.Ala457=)
|
|
|
|
NM_000183.3(HADHB):c.1377A>C (p.Ala459=)
|
|
|
|
NM_000183.3(HADHB):c.1386G>A (p.Gly462=)
|
|
|
|
NM_000183.3(HADHB):c.1387C>G (p.Gln463Glu)
|
|
|
|
NM_000183.3(HADHB):c.1389+10A>C
|
|
|
|
NM_000183.3(HADHB):c.1389+10A>G
|
|
|
|
NM_000183.3(HADHB):c.1389+11G>A
|
|
|
|
NM_000183.3(HADHB):c.1389+5G>A
|
|
|
|
NM_000183.3(HADHB):c.138A>G (p.Leu46=)
|
|
|
|
NM_000183.3(HADHB):c.1390-4A>G
|
|
|
|
NM_000183.3(HADHB):c.1399A>G (p.Met467Val)
|
|
|
|
NM_000183.3(HADHB):c.1405G>A (p.Val469Met)
|
rs1673196031
|
|
|
NM_000183.3(HADHB):c.1409A>C (p.Glu470Ala)
|
rs2147837732
|
|
|
NM_000183.3(HADHB):c.1416T>C (p.Tyr472=)
|
|
|
|
NM_000183.3(HADHB):c.1422A>G (p.Lys474=)
|
|
|
|
NM_000183.3(HADHB):c.150T>A (p.Asn50Lys)
|
|
|
|
NM_000183.3(HADHB):c.162T>A (p.Val54=)
|
|
|
|
NM_000183.3(HADHB):c.162T>C (p.Val54=)
|
|
|
|
NM_000183.3(HADHB):c.166G>T (p.Val56Leu)
|
|
|
|
NM_000183.3(HADHB):c.168G>T (p.Val56=)
|
|
|
|
NM_000183.3(HADHB):c.183C>T (p.Arg61=)
|
|
|
|
NM_000183.3(HADHB):c.189A>T (p.Pro63=)
|
|
|
|
NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)
|
|
|
|
NM_000183.3(HADHB):c.204C>T (p.Gly68=)
|
|
|
|
NM_000183.3(HADHB):c.206C>G (p.Thr69Ser)
|
|
|
|
NM_000183.3(HADHB):c.209+10A>G
|
|
|
|
NM_000183.3(HADHB):c.209+10A>T
|
|
|
|
NM_000183.3(HADHB):c.209+12A>G
|
|
|
|
NM_000183.3(HADHB):c.209+13T>C
|
|
|
|
NM_000183.3(HADHB):c.209+14G>C
|
|
|
|
NM_000183.3(HADHB):c.209+14_209+15del
|
|
|
|
NM_000183.3(HADHB):c.209+16T>C
|
|
|
|
NM_000183.3(HADHB):c.209+18A>G
|
|
|
|
NM_000183.3(HADHB):c.209+20A>G
|
|
|
|
NM_000183.3(HADHB):c.209+7A>G
|
rs773618132
|
|
|
NM_000183.3(HADHB):c.209C>G (p.Ser70Ter)
|
|
|
|
NM_000183.3(HADHB):c.210-10C>T
|
|
|
|
NM_000183.3(HADHB):c.210-17T>A
|
|
|
|
NM_000183.3(HADHB):c.210-18C>G
|
|
|
|
NM_000183.3(HADHB):c.210-18C>T
|
|
|
|
NM_000183.3(HADHB):c.210-4C>G
|
|
|
|
NM_000183.3(HADHB):c.214A>G (p.Lys72Glu)
|
|
|
|
NM_000183.3(HADHB):c.219C>T (p.Asp73=)
|
|
|
|
NM_000183.3(HADHB):c.21C>G (p.Pro7=)
|
|
|
|
NM_000183.3(HADHB):c.21C>T (p.Pro7=)
|
|
|
|
NM_000183.3(HADHB):c.221T>G (p.Leu74Arg)
|
|
|
|
NM_000183.3(HADHB):c.223A>T (p.Met75Leu)
|
|
|
|
NM_000183.3(HADHB):c.254+15T>C
|
|
|
|
NM_000183.3(HADHB):c.254+17T>G
|
|
|
|
NM_000183.3(HADHB):c.254C>T (p.Thr85Met)
|
|
|
|
NM_000183.3(HADHB):c.255-13T>C
|
|
|
|
NM_000183.3(HADHB):c.255-14A>G
|
|
|
|
NM_000183.3(HADHB):c.255-20C>T
|
|
|
|
NM_000183.3(HADHB):c.255-7C>T
|
|
|
|
NM_000183.3(HADHB):c.260T>C (p.Leu87Ser)
|
rs1171889657
|
|
|
NM_000183.3(HADHB):c.279C>T (p.Val93=)
|
|
|
|
NM_000183.3(HADHB):c.288A>G (p.Glu96=)
|
|
|
|
NM_000183.3(HADHB):c.299A>G (p.Tyr100Cys)
|
|
|
|
NM_000183.3(HADHB):c.303C>A (p.Ile101=)
|
|
|
|
NM_000183.3(HADHB):c.306C>A (p.Ile102=)
|
|
|
|
NM_000183.3(HADHB):c.315A>G (p.Thr105=)
|
|
|
|
NM_000183.3(HADHB):c.32T>C (p.Leu11Pro)
|
|
|
|
NM_000183.3(HADHB):c.330G>A (p.Val110=)
|
|
|
|
NM_000183.3(HADHB):c.341A>G (p.Asn114Ser)
|
|
|
|
NM_000183.3(HADHB):c.346G>T (p.Ala116Ser)
|
rs766228457
|
|
|
NM_000183.3(HADHB):c.354+17T>G
|
|
|
|
NM_000183.3(HADHB):c.354+1G>T
|
|
|
|
NM_000183.3(HADHB):c.354+20T>A
|
|
|
|
NM_000183.3(HADHB):c.354+2T>C
|
|
|
|
NM_000183.3(HADHB):c.355-11A>G
|
|
|
|
NM_000183.3(HADHB):c.355-12T>C
|
|
|
|
NM_000183.3(HADHB):c.355-13_355-12del
|
|
|
|
NM_000183.3(HADHB):c.355-15C>T
|
|
|
|
NM_000183.3(HADHB):c.355-17C>G
|
|
|
|
NM_000183.3(HADHB):c.355-20A>C
|
|
|
|
NM_000183.3(HADHB):c.360C>T (p.Ala120=)
|
rs2147823124
|
|
|
NM_000183.3(HADHB):c.388C>T (p.Pro130Ser)
|
|
|
|
NM_000183.3(HADHB):c.389C>T (p.Pro130Leu)
|
|
|
|
NM_000183.3(HADHB):c.399T>C (p.Thr133=)
|
|
|
|
NM_000183.3(HADHB):c.405C>T (p.Thr135=)
|
|
|
|
NM_000183.3(HADHB):c.410dup (p.Cys138fs)
|
|
|
|
NM_000183.3(HADHB):c.417C>T (p.Ile139=)
|
|
|
|
NM_000183.3(HADHB):c.417del (p.Ser140fs)
|
|
|
|
NM_000183.3(HADHB):c.431C>T (p.Ala144Val)
|
rs1672561193
|
|
|
NM_000183.3(HADHB):c.432C>G (p.Ala144=)
|
|
|
|
NM_000183.3(HADHB):c.442+12T>C
|
|
|
|
NM_000183.3(HADHB):c.442+15A>G
|
|
|
|
NM_000183.3(HADHB):c.442+15A>T
|
|
|
|
NM_000183.3(HADHB):c.442+18C>T
|
|
|
|
NM_000183.3(HADHB):c.443-10T>A
|
|
|
|
NM_000183.3(HADHB):c.443-13del
|
|
|
|
NM_000183.3(HADHB):c.443-20G>A
|
|
|
|
NM_000183.3(HADHB):c.443-4G>A
|
|
|
|
NM_000183.3(HADHB):c.443-4G>C
|
|
|
|
NM_000183.3(HADHB):c.451T>C (p.Leu151=)
|
|
|
|
NM_000183.3(HADHB):c.474T>C (p.Asp158=)
|
|
|
|
NM_000183.3(HADHB):c.480C>T (p.Ile160=)
|
|
|
|
NM_000183.3(HADHB):c.481G>A (p.Val161Met)
|
|
|
|
NM_000183.3(HADHB):c.486A>C (p.Ala162=)
|
|
|
|
NM_000183.3(HADHB):c.489T>C (p.Gly163=)
|
|
|
|
NM_000183.3(HADHB):c.496G>A (p.Glu166Lys)
|
|
|
|
NM_000183.3(HADHB):c.507C>G (p.Ser169=)
|
|
|
|
NM_000183.3(HADHB):c.507C>T (p.Ser169=)
|
|
|
|
NM_000183.3(HADHB):c.508G>A (p.Asp170Asn)
|
|
|
|
NM_000183.3(HADHB):c.50G>A (p.Trp17Ter)
|
|
|
|
NM_000183.3(HADHB):c.544C>T (p.Leu182=)
|
|
|
|
NM_000183.3(HADHB):c.54C>T (p.Ala18=)
|
|
|
|
NM_000183.3(HADHB):c.556C>G (p.Leu186Val)
|
|
|
|
NM_000183.3(HADHB):c.564G>A (p.Lys188=)
|
|
|
|
NM_000183.3(HADHB):c.568A>T (p.Lys190Ter)
|
|
|
|
NM_000183.3(HADHB):c.57C>T (p.Leu19=)
|
|
|
|
NM_000183.3(HADHB):c.588G>A (p.Leu196=)
|
|
|
|
NM_000183.3(HADHB):c.590_591delinsAA (p.Ser197Ter)
|
|
|
|
NM_000183.3(HADHB):c.597C>T (p.Ile199=)
|
|
|
|
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup)
|
rs3839049
|
|
|
NM_000183.3(HADHB):c.607C>T (p.Arg203Ter)
|
|
|
|
NM_000183.3(HADHB):c.609A>C (p.Arg203=)
|
|
|
|
NM_000183.3(HADHB):c.615_616insCTCTAAT (p.Phe206delinsLeuTer)
|
|
|
|
NM_000183.3(HADHB):c.630+10G>A
|
|
|
|
NM_000183.3(HADHB):c.630+16G>A
|
|
|
|
NM_000183.3(HADHB):c.630+19G>A
|
|
|
|
NM_000183.3(HADHB):c.631-11T>C
|
|
|
|
NM_000183.3(HADHB):c.631-16A>C
|
|
|
|
NM_000183.3(HADHB):c.631-16A>G
|
|
|
|
NM_000183.3(HADHB):c.631-16A>T
|
|
|
|
NM_000183.3(HADHB):c.631-17G>A
|
|
|
|
NM_000183.3(HADHB):c.631-17G>T
|
|
|
|
NM_000183.3(HADHB):c.631-2A>C
|
rs1574663316
|
|
|
NM_000183.3(HADHB):c.631-6T>C
|
|
|
|
NM_000183.3(HADHB):c.631-9C>T
|
|
|
|
NM_000183.3(HADHB):c.632T>A (p.Leu211His)
|
rs1446857112
|
|
|
NM_000183.3(HADHB):c.637_638delinsTA (p.Ala213Ter)
|
|
|
|
NM_000183.3(HADHB):c.639G>A (p.Ala213=)
|
|
|
|
NM_000183.3(HADHB):c.64+10T>C
|
|
|
|
NM_000183.3(HADHB):c.64+13T>C
|
|
|
|
NM_000183.3(HADHB):c.64+22dup
|
|
|
|
NM_000183.3(HADHB):c.64+7TTA[2]
|
|
|
|
NM_000183.3(HADHB):c.646G>T (p.Glu216Ter)
|
rs2147825407
|
|
|
NM_000183.3(HADHB):c.648G>A (p.Glu216=)
|
|
|
|
NM_000183.3(HADHB):c.65-15T>A
|
|
|
|
NM_000183.3(HADHB):c.65-19A>G
|
|
|
|
NM_000183.3(HADHB):c.65-8T>C
|
|
|
|
NM_000183.3(HADHB):c.65-9G>A
|
|
|
|
NM_000183.3(HADHB):c.651C>T (p.Phe217=)
|
|
|
|
NM_000183.3(HADHB):c.652T>C (p.Ser218Pro)
|
|
|
|
NM_000183.3(HADHB):c.657C>T (p.Thr219=)
|
|
|
|
NM_000183.3(HADHB):c.658A>G (p.Ser220Gly)
|
|
|
|
NM_000183.3(HADHB):c.65C>G (p.Ser22Cys)
|
rs1671530038
|
|
|
NM_000183.3(HADHB):c.666C>T (p.Thr222=)
|
|
|
|
NM_000183.3(HADHB):c.672C>G (p.Gly224=)
|
|
|
|
NM_000183.3(HADHB):c.672C>T (p.Gly224=)
|
|
|
|
NM_000183.3(HADHB):c.678T>A (p.Ser226=)
|
|
|
|
NM_000183.3(HADHB):c.679G>A (p.Ala227Thr)
|
|
|
|
NM_000183.3(HADHB):c.685C>T (p.Arg229Ter)
|
rs759136382
|
|
|
NM_000183.3(HADHB):c.694G>T (p.Ala232Ser)
|
rs987203346
|
|
|
NM_000183.3(HADHB):c.696T>C (p.Ala232=)
|
|
|
|
NM_000183.3(HADHB):c.699C>T (p.Ala233=)
|
|
|
|
NM_000183.3(HADHB):c.710C>G (p.Ser237Cys)
|
|
|
|
NM_000183.3(HADHB):c.714G>A (p.Arg238=)
|
|
|
|
NM_000183.3(HADHB):c.716T>C (p.Leu239Pro)
|
|
|
|
NM_000183.3(HADHB):c.736C>T (p.Leu246=)
|
|
|
|
NM_000183.3(HADHB):c.739C>T (p.Arg247Cys)
|
|
|
|
NM_000183.3(HADHB):c.741C>T (p.Arg247=)
|
|
|
|
NM_000183.3(HADHB):c.747C>T (p.His249=)
|
|
|
|
NM_000183.3(HADHB):c.747_748del (p.His249fs)
|
|
|
|
NM_000183.3(HADHB):c.754G>A (p.Ala252Thr)
|
rs770044899
|
|
|
NM_000183.3(HADHB):c.756C>T (p.Ala252=)
|
|
|
|
NM_000183.3(HADHB):c.762G>A (p.Lys254=)
|
|
|
|
NM_000183.3(HADHB):c.807A>C (p.Val269=)
|
|
|
|
NM_000183.3(HADHB):c.80G>C (p.Ser27Thr)
|
|
|
|
NM_000183.3(HADHB):c.811+15T>A
|
|
|
|
NM_000183.3(HADHB):c.811+2T>G
|
|
|
|
NM_000183.3(HADHB):c.811+82A>G
|
|
|
|
NM_000183.3(HADHB):c.812-11T>G
|
|
|
|
NM_000183.3(HADHB):c.812-14C>G
|
|
|
|
NM_000183.3(HADHB):c.812-14C>T
|
|
|
|
NM_000183.3(HADHB):c.812-16T>A
|
|
|
|
NM_000183.3(HADHB):c.812-2A>G
|
|
|
|
NM_000183.3(HADHB):c.812-5A>C
|
rs72851534
|
|
|
NM_000183.3(HADHB):c.812-5A>T
|
rs72851534
|
|
|
NM_000183.3(HADHB):c.812-6dup
|
|
|
|
NM_000183.3(HADHB):c.828C>G (p.Thr276=)
|
|
|
|
NM_000183.3(HADHB):c.832G>C (p.Asp278His)
|
rs982733832
|
|
|
NM_000183.3(HADHB):c.863A>G (p.Gln288Arg)
|
|
|
|
NM_000183.3(HADHB):c.87C>T (p.Ser29=)
|
|
|
|
NM_000183.3(HADHB):c.881C>G (p.Pro294Arg)
|
rs1558357879
|
|
|
NM_000183.3(HADHB):c.882dup (p.Ala295fs)
|
|
|
|
NM_000183.3(HADHB):c.894G>A (p.Lys298=)
|
|
|
|
NM_000183.3(HADHB):c.897C>G (p.Pro299=)
|
|
|
|
NM_000183.3(HADHB):c.897C>T (p.Pro299=)
|
|
|
|
NM_000183.3(HADHB):c.90C>T (p.Ser30=)
|
|
|
|
NM_000183.3(HADHB):c.915T>G (p.Ala305=)
|
|
|
|
NM_000183.3(HADHB):c.91C>G (p.Gln31Glu)
|
|
|
|
NM_000183.3(HADHB):c.923C>A (p.Ser308Tyr)
|
|
|
|
NM_000183.3(HADHB):c.924T>G (p.Ser308=)
|
|
|
|
NM_000183.3(HADHB):c.930C>A (p.Phe310Leu)
|
|
|
|
NM_000183.3(HADHB):c.930C>T (p.Phe310=)
|
|
|
|
NM_000183.3(HADHB):c.933+16A>G
|
|
|
|
NM_000183.3(HADHB):c.933+20G>A
|
|
|
|
NM_000183.3(HADHB):c.933+6del
|
|
|
|
NM_000183.3(HADHB):c.933+8T>C
|
|
|
|
NM_000183.3(HADHB):c.934-10A>G
|
|
|
|
NM_000183.3(HADHB):c.934-13G>A
|
|
|
|
NM_000183.3(HADHB):c.934-13G>C
|
|
|
|
NM_000183.3(HADHB):c.934-16C>T
|
|
|
|
NM_000183.3(HADHB):c.936T>G (p.Thr312=)
|
|
|
|
NM_000183.3(HADHB):c.944C>T (p.Ala315Val)
|
|
|
|
NM_000183.3(HADHB):c.945A>G (p.Ala315=)
|
|
|
|
NM_000183.3(HADHB):c.948T>A (p.Ser316=)
|
|
|
|
NM_000183.3(HADHB):c.951A>G (p.Ala317=)
|
|
|
|
NM_000183.3(HADHB):c.953T>G (p.Met318Arg)
|
rs2147829865
|
|
|
NM_000183.3(HADHB):c.962del (p.Met321fs)
|
|
|
|
NM_000183.3(HADHB):c.965C>A (p.Ala322Glu)
|
|
|
|
NM_000183.3(HADHB):c.979C>T (p.Leu327=)
|
|
|
|
NM_000183.3(HADHB):c.982G>A (p.Ala328Thr)
|
|
|
|
NM_000183.3(HADHB):c.989G>A (p.Gly330Asp)
|
rs1349682003
|
|
|
NM_000183.3(HADHB):c.989del (p.Gly330fs)
|
rs2147829909
|
|
|
NM_000183.3(HADHB):c.999G>A (p.Pro333=)
|
|
|
|
NM_000252.2(MTM1):c.1169T>A (p.Met390Lys)
|
rs727504019
|
|
|
NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs)
|
rs2148497926
|
|
|
NM_000252.3(MTM1):c.102T>C (p.Ala34=)
|
|
|
|
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter)
|
rs398123264
|
|
|
NM_000252.3(MTM1):c.1047T>C (p.His349=)
|
|
|
|
NM_000252.3(MTM1):c.1049T>C (p.Ile350Thr)
|
|
|
|
NM_000252.3(MTM1):c.1053+14G>T
|
|
|
|
NM_000252.3(MTM1):c.1053+20dup
|
|
|
|
NM_000252.3(MTM1):c.1053+8T>C
|
|
|
|
NM_000252.3(MTM1):c.1054-18C>G
|
|
|
|
NM_000252.3(MTM1):c.1054-4T>C
|
|
|
|
NM_000252.3(MTM1):c.1054-5G>C
|
rs398123265
|
|
|
NM_000252.3(MTM1):c.1054-6dup
|
|
|
|
NM_000252.3(MTM1):c.1054-9_1054-6del
|
rs782691958
|
|
|
NM_000252.3(MTM1):c.1056C>T (p.Leu352=)
|
rs1216921434
|
|
|
NM_000252.3(MTM1):c.1062G>A (p.Leu354=)
|
rs1603204575
|
|
|
NM_000252.3(MTM1):c.1065A>G (p.Thr355=)
|
rs1603204585
|
|
|
NM_000252.3(MTM1):c.1084G>C (p.Asp362His)
|
rs2148508579
|
|
|
NM_000252.3(MTM1):c.1086C>T (p.Asp362=)
|
rs2148508590
|
|
|
NM_000252.3(MTM1):c.1107T>A (p.Ser369Arg)
|
rs2148508637
|
|
|
NM_000252.3(MTM1):c.1116del (p.Val373fs)
|
|
|
|
NM_000252.3(MTM1):c.1119G>A (p.Val373=)
|
rs941979306
|
|
|
NM_000252.3(MTM1):c.1122T>C (p.His374=)
|
rs2040150089
|
|
|
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg)
|
rs587783755
|
|
|
NM_000252.3(MTM1):c.1149T>C (p.Ala383=)
|
|
|
|
NM_000252.3(MTM1):c.1153C>T (p.Leu385=)
|
|
|
|
NM_000252.3(MTM1):c.1158A>G (p.Thr386=)
|
|
|
|
NM_000252.3(MTM1):c.116del (p.Pro39fs)
|
rs2038979352
|
|
|
NM_000252.3(MTM1):c.1179G>A (p.Leu393=)
|
|
|
|
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn)
|
rs2040151430
|
|
|
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys)
|
rs132630303
|
|
|
NM_000252.3(MTM1):c.1204G>A (p.Gly402Arg)
|
rs1569565525
|
|
|
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)
|
rs781933660
|
|
|
NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp)
|
rs2040152678
|
|
|
NM_000252.3(MTM1):c.1245A>G (p.Gly415=)
|
rs2148508923
|
|
|
NM_000252.3(MTM1):c.1260+10C>T
|
|
|
|
NM_000252.3(MTM1):c.1260+15C>G
|
|
|
|
NM_000252.3(MTM1):c.1260+19T>C
|
|
|
|
NM_000252.3(MTM1):c.1260+5G>A
|
rs587783769
|
|
|
NM_000252.3(MTM1):c.1261-10A>C
|
|
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
|
NM_000252.3(MTM1):c.1261-15C>T
|
|
|
|
NM_000252.3(MTM1):c.1261-18C>G
|
|
|
|
NM_000252.3(MTM1):c.1261-20A>G
|
|
|
|
NM_000252.3(MTM1):c.1261-21_1261-16del
|
|
|
|
NM_000252.3(MTM1):c.1261-2A>C
|
rs2148510791
|
|
|
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)
|
rs587783772
|
|
|
NM_000252.3(MTM1):c.1269T>A (p.Gly423=)
|
|
|
|
NM_000252.3(MTM1):c.129A>T (p.Leu43=)
|
|
|
|
NM_000252.3(MTM1):c.1302T>C (p.Arg434=)
|
rs2148510860
|
|
|
NM_000252.3(MTM1):c.1323T>C (p.Phe441=)
|
|
|
|
NM_000252.3(MTM1):c.1329T>C (p.Asp443=)
|
|
|
|
NM_000252.3(MTM1):c.1340A>G (p.Gln447Arg)
|
|
|
|
NM_000252.3(MTM1):c.1349_1353+4del
|
rs797045715
|
|
|
NM_000252.3(MTM1):c.1353+14G>A
|
|
|
|
NM_000252.3(MTM1):c.1353+4A>C
|
|
|
|
NM_000252.3(MTM1):c.1353+9T>A
|
|
|
|
NM_000252.3(MTM1):c.1353G>A (p.Gln451=)
|
rs587783781
|
|
|
NM_000252.3(MTM1):c.1354-19_1354-16del
|
|
|
|
NM_000252.3(MTM1):c.1354-2A>T
|
rs781835307
|
|
|
NM_000252.3(MTM1):c.1354-7del
|
rs782326353
|
|
|
NM_000252.3(MTM1):c.136+11G>C
|
|
|
|
NM_000252.3(MTM1):c.136+14G>A
|
|
|
|
NM_000252.3(MTM1):c.136+5G>A
|
|
|
|
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser)
|
rs587783783
|
|
|
NM_000252.3(MTM1):c.1369G>A (p.Glu457Lys)
|
rs398123269
|
|
|
NM_000252.3(MTM1):c.137-11del
|
|
|
|
NM_000252.3(MTM1):c.137-11dup
|
rs797045716
|
|
|
NM_000252.3(MTM1):c.137-18del
|
|
|
|
NM_000252.3(MTM1):c.137-7T>G
|
rs587783784
|
|
|
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter)
|
rs782234944
|
|
|
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe)
|
|
|
|
NM_000252.3(MTM1):c.1392T>C (p.Ile464=)
|
rs2148511855
|
|
|
NM_000252.3(MTM1):c.1405C>G (p.His469Asp)
|
|
|
|
NM_000252.3(MTM1):c.1406A>C (p.His469Pro)
|
rs587783789
|
|
|
NM_000252.3(MTM1):c.1406A>G (p.His469Arg)
|
rs587783789
|
|
|
NM_000252.3(MTM1):c.1419C>T (p.Cys473=)
|
|
|
|
NM_000252.3(MTM1):c.141_144del
|
rs587783791
|
|
|
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter)
|
rs587783792
|
|
|
NM_000252.3(MTM1):c.1423T>C (p.Phe475Leu)
|
|
|
|
NM_000252.3(MTM1):c.1429A>G (p.Thr477Ala)
|
rs2040200948
|
|
|
NM_000252.3(MTM1):c.1436_1437insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCTGGTACTTTCTT (p.Phe478_Leu479insPhePhePhePhePhePhePheXaaXaaXaaXaaSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGlyThrPhe)
|
|
|
|
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter)
|
rs2148511944
|
|
|
NM_000252.3(MTM1):c.1449A>G (p.Glu483=)
|
rs2148511948
|
|
|
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter)
|
rs587783795
|
|
|
NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter)
|
rs2148511970
|
|
|
NM_000252.3(MTM1):c.1467+24del
|
|
|
|
NM_000252.3(MTM1):c.1467+24dup
|
|
|
|
NM_000252.3(MTM1):c.1468-11TC[2]
|
rs2148515446
|
|
|
NM_000252.3(MTM1):c.1468-12G>A
|
|
|
|
NM_000252.3(MTM1):c.1468-12G>C
|
|
|
|
NM_000252.3(MTM1):c.1468-12G>T
|
|
|
|
NM_000252.3(MTM1):c.1468-12_1468-11del
|
|
|
|
NM_000252.3(MTM1):c.1468-18_1468-13del
|
|
|
|
NM_000252.3(MTM1):c.1468-21TC[2]
|
|
|
|
NM_000252.3(MTM1):c.1468-5T>C
|
rs2148515462
|
|
|
NM_000252.3(MTM1):c.1468-8C>T
|
rs1276451236
|
|
|
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg)
|
rs781948606
|
|
|
NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile)
|
|
|
|
NM_000252.3(MTM1):c.147T>A (p.Val49=)
|
rs2148434016
|
|
|
NM_000252.3(MTM1):c.1485T>A (p.Thr495=)
|
rs2148515501
|
|
|
NM_000252.3(MTM1):c.1501C>T (p.Leu501=)
|
rs2148515532
|
|
|
NM_000252.3(MTM1):c.1503G>C (p.Leu501=)
|
rs2148515546
|
|
|
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys)
|
rs1557414802
|
|
|
NM_000252.3(MTM1):c.1509C>T (p.Asn503=)
|
rs1603208456
|
|
|
NM_000252.3(MTM1):c.1509_1510del (p.Asn503fs)
|
|
|
|
NM_000252.3(MTM1):c.1518A>G (p.Lys506=)
|
rs2040257647
|
|
|
NM_000252.3(MTM1):c.1521A>G (p.Glu507=)
|
rs2148515589
|
|
|
NM_000252.3(MTM1):c.1525T>C (p.Phe509Leu)
|
rs2040257723
|
|
|
NM_000252.3(MTM1):c.1529A>G (p.Lys510Arg)
|
rs2148515610
|
|
|
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys)
|
rs1569565536
|
|
|
NM_000252.3(MTM1):c.153C>T (p.Tyr51=)
|
rs2148434034
|
|
|
NM_000252.3(MTM1):c.1542T>C (p.Tyr514=)
|
|
|
|
NM_000252.3(MTM1):c.1546A>G (p.Lys516Glu)
|
rs868972342
|
|
|
NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter)
|
rs868972342
|
|
|
NM_000252.3(MTM1):c.1551A>G (p.Glu517=)
|
rs2040258177
|
|
|
NM_000252.3(MTM1):c.1558C>A (p.Arg520=)
|
rs587783805
|
|
|
NM_000252.3(MTM1):c.1566A>G (p.Leu522=)
|
rs2148515668
|
|
|
NM_000252.3(MTM1):c.156A>G (p.Ile52Met)
|
|
|
|
NM_000252.3(MTM1):c.1573G>T (p.Val525Phe)
|
|
|
|
NM_000252.3(MTM1):c.1575T>A (p.Val525=)
|
|
|
|
NM_000252.3(MTM1):c.1578C>T (p.Ala526=)
|
rs1603208507
|
|
|
NM_000252.3(MTM1):c.1591T>C (p.Leu531=)
|
rs2040258987
|
|
|
NM_000252.3(MTM1):c.1596A>G (p.Glu532=)
|
|
|
|
NM_000252.3(MTM1):c.1599C>T (p.Leu533=)
|
rs2148515718
|
|
|
NM_000252.3(MTM1):c.15A>C (p.Ser5=)
|
rs2148425501
|
|
|
NM_000252.3(MTM1):c.1604T>A (p.Val535Glu)
|
rs2148515723
|
|
|
NM_000252.3(MTM1):c.1608T>C (p.Asn536=)
|
|
|
|
NM_000252.3(MTM1):c.1627C>A (p.Pro543Thr)
|
|
|
|
NM_000252.3(MTM1):c.1627C>T (p.Pro543Ser)
|
|
|
|
NM_000252.3(MTM1):c.1632G>A (p.Arg544=)
|
|
|
|
NM_000252.3(MTM1):c.1644+18G>A
|
|
|
|
NM_000252.3(MTM1):c.1644+19T>G
|
|
|
|
NM_000252.3(MTM1):c.1645-13T>C
|
|
|
|
NM_000252.3(MTM1):c.1645-14_1645-13del
|
|
|
|
NM_000252.3(MTM1):c.1645-17T>A
|
|
|
|
NM_000252.3(MTM1):c.1645-17T>G
|
|
|
|
NM_000252.3(MTM1):c.1645-19A>C
|
|
|
|
NM_000252.3(MTM1):c.1649C>T (p.Pro550Leu)
|
|
|
|
NM_000252.3(MTM1):c.1650G>A (p.Pro550=)
|
rs2040394486
|
|
|
NM_000252.3(MTM1):c.1662G>A (p.Glu554=)
|
rs1603214698
|
|
|
NM_000252.3(MTM1):c.1665G>A (p.Gln555=)
|
|
|
|
NM_000252.3(MTM1):c.1666C>T (p.Arg556Cys)
|
rs1603214706
|
|
|
NM_000252.3(MTM1):c.1667G>A (p.Arg556His)
|
rs372735301
|
|
|
NM_000252.3(MTM1):c.1673T>C (p.Met558Thr)
|
|
|
|
NM_000252.3(MTM1):c.1680C>G (p.Leu560=)
|
|
|
|
NM_000252.3(MTM1):c.1683A>G (p.Leu561=)
|
rs2148525035
|
|
|
NM_000252.3(MTM1):c.16A>G (p.Thr6Ala)
|
|
|
|
NM_000252.3(MTM1):c.1713T>C (p.Leu571=)
|
rs1557415142
|
|
|
NM_000252.3(MTM1):c.171C>A (p.Gly57=)
|
rs782505553
|
|
|
NM_000252.3(MTM1):c.1722G>A (p.Leu574=)
|
rs781846889
|
|
|
NM_000252.3(MTM1):c.1724A>C (p.Gln575Pro)
|
rs1347335331
|
|
|
NM_000252.3(MTM1):c.1728C>A (p.Leu576=)
|
|
|
|
NM_000252.3(MTM1):c.1728C>T (p.Leu576=)
|
rs375031903
|
|
|
NM_000252.3(MTM1):c.1733A>C (p.Asn578Thr)
|
|
|
|
NM_000252.3(MTM1):c.1748C>T (p.Ser583Phe)
|
|
|
|
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala)
|
rs1195705222
|
|
|
NM_000252.3(MTM1):c.1755C>A (p.Pro585=)
|
|
|
|
NM_000252.3(MTM1):c.1756C>T (p.Pro586Ser)
|
|
|
|
NM_000252.3(MTM1):c.1759A>G (p.Thr587Ala)
|
|
|
|
NM_000252.3(MTM1):c.1761T>G (p.Thr587=)
|
rs2148525231
|
|
|
NM_000252.3(MTM1):c.1766C>G (p.Pro589Arg)
|
|
|
|
NM_000252.3(MTM1):c.1778C>T (p.Ser593Leu)
|
|
|
|
NM_000252.3(MTM1):c.1779G>T (p.Ser593=)
|
rs782375296
|
|
|
NM_000252.3(MTM1):c.1791C>G (p.Pro597=)
|
|
|
|
NM_000252.3(MTM1):c.180G>A (p.Lys60=)
|
|
|
|
NM_000252.3(MTM1):c.1811del (p.Phe603_Ter604insTer)
|
|
|
|
NM_000252.3(MTM1):c.18T>A (p.Thr6=)
|
|
|
|
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)
|
rs132630304
|
|
|
NM_000252.3(MTM1):c.214T>C (p.Leu72=)
|
|
|
|
NM_000252.3(MTM1):c.21T>G (p.Ser7=)
|
|
|
|
NM_000252.3(MTM1):c.223T>C (p.Leu75=)
|
|
|
|
NM_000252.3(MTM1):c.231+8G>A
|
rs2148434174
|
|
|
NM_000252.3(MTM1):c.232-11G>T
|
|
|
|
NM_000252.3(MTM1):c.232-12dup
|
|
|
|
NM_000252.3(MTM1):c.232-8C>T
|
rs782389461
|
|
|
NM_000252.3(MTM1):c.232G>C (p.Asp78His)
|
|
|
|
NM_000252.3(MTM1):c.271_272delinsAT (p.Ser91Met)
|
|
|
|
NM_000252.3(MTM1):c.273G>A (p.Ser91=)
|
rs1447559040
|
|
|
NM_000252.3(MTM1):c.27T>C (p.Tyr9=)
|
|
|
|
NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter)
|
|
|
|
NM_000252.3(MTM1):c.294C>T (p.Gly98=)
|
|
|
|
NM_000252.3(MTM1):c.295G>A (p.Ala99Thr)
|
|
|
|
NM_000252.3(MTM1):c.296C>T (p.Ala99Val)
|
|
|
|
NM_000252.3(MTM1):c.2T>C (p.Met1Thr)
|
|
|
|
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly)
|
rs587783818
|
|
|
NM_000252.3(MTM1):c.310G>T (p.Glu104Ter)
|
rs2148456062
|
|
|
NM_000252.3(MTM1):c.32C>T (p.Ser11Leu)
|
|
|
|
NM_000252.3(MTM1):c.335C>G (p.Thr112Ser)
|
|
|
|
NM_000252.3(MTM1):c.336T>A (p.Thr112=)
|
|
|
|
NM_000252.3(MTM1):c.339T>A (p.Cys113Ter)
|
rs147644722
|
|
|
NM_000252.3(MTM1):c.342+12G>A
|
|
|
|
NM_000252.3(MTM1):c.342+17T>C
|
|
|
|
NM_000252.3(MTM1):c.342+19T>C
|
|
|
|
NM_000252.3(MTM1):c.342+19_342+22del
|
|
|
|
NM_000252.3(MTM1):c.342+9T>C
|
rs2148456159
|
|
|
NM_000252.3(MTM1):c.342+9T>G
|
|
|
|
NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
|
|
NM_000252.3(MTM1):c.343-12C>T
|
rs2039433672
|
|
|
NM_000252.3(MTM1):c.343-16T>C
|
|
|
|
NM_000252.3(MTM1):c.343-1G>A
|
rs2148461695
|
|
|
NM_000252.3(MTM1):c.343-3dup
|
rs2148461677
|
|
|
NM_000252.3(MTM1):c.345C>T (p.Asp115=)
|
rs2148461700
|
|
|
NM_000252.3(MTM1):c.359G>A (p.Arg120Lys)
|
|
|
|
NM_000252.3(MTM1):c.363C>T (p.Phe121=)
|
|
|
|
NM_000252.3(MTM1):c.369G>A (p.Leu123=)
|
|
|
|
NM_000252.3(MTM1):c.375G>A (p.Gln125=)
|
|
|
|
NM_000252.3(MTM1):c.387C>T (p.Ser129=)
|
|
|
|
NM_000252.3(MTM1):c.396T>C (p.Asp132=)
|
|
|
|
NM_000252.3(MTM1):c.397A>G (p.Met133Val)
|
rs2039434563
|
|
|
NM_000252.3(MTM1):c.408C>T (p.Ile136=)
|
|
|
|
NM_000252.3(MTM1):c.410T>C (p.Leu137Pro)
|
rs2148461766
|
|
|
NM_000252.3(MTM1):c.411C>T (p.Leu137=)
|
|
|
|
NM_000252.3(MTM1):c.414G>A (p.Thr138=)
|
|
|
|
NM_000252.3(MTM1):c.421G>C (p.Ala141Pro)
|
rs1557413215
|
|
|
NM_000252.3(MTM1):c.431del (p.Leu144fs)
|
rs587783826
|
|
|
NM_000252.3(MTM1):c.432G>T (p.Leu144=)
|
rs2148461815
|
|
|
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly)
|
rs964287315
|
|
|
NM_000252.3(MTM1):c.444+10A>G
|
rs782479470
|
|
|
NM_000252.3(MTM1):c.444+12T>C
|
rs2148461835
|
|
|
NM_000252.3(MTM1):c.444+15T>C
|
|
|
|
NM_000252.3(MTM1):c.444+17T>C
|
|
|
|
NM_000252.3(MTM1):c.444+19C>G
|
|
|
|
NM_000252.3(MTM1):c.444+19_444+21del
|
|
|
|
NM_000252.3(MTM1):c.444+2T>A
|
|
|
|
NM_000252.3(MTM1):c.445-12dup
|
|
|
|
NM_000252.3(MTM1):c.445-20T>C
|
|
|
|
NM_000252.3(MTM1):c.446C>G (p.Pro149Arg)
|
rs2148485707
|
|
|
NM_000252.3(MTM1):c.450A>G (p.Leu150=)
|
|
|
|
NM_000252.3(MTM1):c.456A>G (p.Ala152=)
|
|
|
|
NM_000252.3(MTM1):c.463A>T (p.Asn155Tyr)
|
|
|
|
NM_000252.3(MTM1):c.465T>C (p.Asn155=)
|
|
|
|
NM_000252.3(MTM1):c.466G>A (p.Glu156Lys)
|
|
|
|
NM_000252.3(MTM1):c.473del (p.Lys158fs)
|
|
|
|
NM_000252.3(MTM1):c.483G>A (p.Val161=)
|
|
|
|
NM_000252.3(MTM1):c.495A>G (p.Thr165=)
|
|
|
|
NM_000252.3(MTM1):c.501C>T (p.Tyr167=)
|
rs2039803075
|
|
|
NM_000252.3(MTM1):c.504T>C (p.Asn168=)
|
|
|
|
NM_000252.3(MTM1):c.516del (p.Glu172fs)
|
rs2039803495
|
|
|
NM_000252.3(MTM1):c.519C>T (p.Tyr173=)
|
rs2148485835
|
|
|
NM_000252.3(MTM1):c.520A>G (p.Arg174Gly)
|
|
|
|
NM_000252.3(MTM1):c.528+10dup
|
|
|
|
NM_000252.3(MTM1):c.528+13A>G
|
|
|
|
NM_000252.3(MTM1):c.528+13A>T
|
|
|
|
NM_000252.3(MTM1):c.528+17T>A
|
rs2148485858
|
|
|
NM_000252.3(MTM1):c.528+18A>G
|
|
|
|
NM_000252.3(MTM1):c.528+18_528+22dup
|
|
|
|
NM_000252.3(MTM1):c.528+1G>A
|
|
|
|
NM_000252.3(MTM1):c.529-5C>T
|
|
|
|
NM_000252.3(MTM1):c.529-9dup
|
|
|
|
NM_000252.3(MTM1):c.530G>T (p.Gly177Val)
|
rs1603187659
|
|
|
NM_000252.3(MTM1):c.535C>A (p.Pro179Thr)
|
rs587783832
|
|
|
NM_000252.3(MTM1):c.543C>G (p.His181Gln)
|
rs1603187692
|
|
|
NM_000252.3(MTM1):c.544C>T (p.His182Tyr)
|
rs2148488398
|
|
|
NM_000252.3(MTM1):c.548G>A (p.Trp183Ter)
|
rs2148488410
|
|
|
NM_000252.3(MTM1):c.549dup (p.Arg184fs)
|
rs797045719
|
|
|
NM_000252.3(MTM1):c.553A>T (p.Ile185Leu)
|
rs2148488427
|
|
|
NM_000252.3(MTM1):c.560T>C (p.Phe187Ser)
|
|
|
|
NM_000252.3(MTM1):c.562A>C (p.Ile188Leu)
|
|
|
|
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser)
|
rs132630302
|
|
|
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)
|
rs587783838
|
|
|
NM_000252.3(MTM1):c.576T>C (p.Tyr192=)
|
rs2148488477
|
|
|
NM_000252.3(MTM1):c.590C>T (p.Thr197Ile)
|
rs2148488506
|
|
|
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)
|
rs587783839
|
|
|
NM_000252.3(MTM1):c.5C>T (p.Ala2Val)
|
rs1603118990
|
|
|
NM_000252.3(MTM1):c.600T>G (p.Ala200=)
|
|
|
|
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)
|
rs587783841
|
|
|
NM_000252.3(MTM1):c.619C>T (p.Arg207Cys)
|
rs1470686963
|
|
|
NM_000252.3(MTM1):c.624C>T (p.Ala208=)
|
|
|
|
NM_000252.3(MTM1):c.624del (p.Ser209fs)
|
rs2039846270
|
|
|
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly)
|
rs587783842
|
|
|
NM_000252.3(MTM1):c.629A>T (p.Asp210Val)
|
|
|
|
NM_000252.3(MTM1):c.62G>A (p.Arg21Lys)
|
rs2148425592
|
|
|
NM_000252.3(MTM1):c.63+16A>G
|
|
|
|
NM_000252.3(MTM1):c.63+21del
|
|
|
|
NM_000252.3(MTM1):c.63+7del
|
rs782222093
|
|
|
NM_000252.3(MTM1):c.636C>T (p.Asp212=)
|
|
|
|
NM_000252.3(MTM1):c.64-2A>G
|
rs1603123976
|
|
|
NM_000252.3(MTM1):c.64-7T>C
|
rs1603123969
|
|
|
NM_000252.3(MTM1):c.640C>T (p.Arg214Trp)
|
|
|
|
NM_000252.3(MTM1):c.641G>A (p.Arg214Gln)
|
|
|
|
NM_000252.3(MTM1):c.664C>A (p.Arg222=)
|
rs587783847
|
|
|
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter)
|
rs587783847
|
|
|
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)
|
rs132630306
|
|
|
NM_000252.3(MTM1):c.675T>C (p.Ile225=)
|
|
|
|
NM_000252.3(MTM1):c.678+18C>T
|
|
|
|
NM_000252.3(MTM1):c.678+19G>A
|
rs1215955664
|
|
|
NM_000252.3(MTM1):c.678+5G>A
|
|
|
|
NM_000252.3(MTM1):c.678+6T>A
|
rs2039847628
|
|
|
NM_000252.3(MTM1):c.678+7A>G
|
rs2148488635
|
|
|
NM_000252.3(MTM1):c.678+9T>C
|
|
|
|
NM_000252.3(MTM1):c.678+9T>G
|
|
|
|
NM_000252.3(MTM1):c.678A>G (p.Pro226=)
|
|
|
|
NM_000252.3(MTM1):c.679-10T>G
|
rs782314713
|
|
|
NM_000252.3(MTM1):c.679-19C>G
|
|
|
|
NM_000252.3(MTM1):c.679-1G>A
|
rs672601324
|
|
|
NM_000252.3(MTM1):c.679-22_679-17del
|
|
|
|
NM_000252.3(MTM1):c.679G>A (p.Val227Met)
|
rs587783850
|
|
|
NM_000252.3(MTM1):c.684G>A (p.Leu228=)
|
rs587783852
|
|
|
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)
|
rs398123274
|
|
|
NM_000252.3(MTM1):c.6T>C (p.Ala2=)
|
|
|
|
NM_000252.3(MTM1):c.6T>G (p.Ala2=)
|
|
|
|
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter)
|
rs398123275
|
|
|
NM_000252.3(MTM1):c.711G>A (p.Thr237=)
|
rs1162408107
|
|
|
NM_000252.3(MTM1):c.717T>C (p.Ile239=)
|
rs2148493140
|
|
|
NM_000252.3(MTM1):c.71G>A (p.Arg24Gln)
|
|
|
|
NM_000252.3(MTM1):c.720G>A (p.Val240=)
|
rs2148493142
|
|
|
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
|
NM_000252.3(MTM1):c.726C>T (p.Cys242=)
|
rs2039919467
|
|
|
NM_000252.3(MTM1):c.727A>G (p.Ser243Gly)
|
rs2148493156
|
|
|
NM_000252.3(MTM1):c.728G>A (p.Ser243Asn)
|
rs2039919583
|
|
|
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter)
|
rs2039919698
|
|
|
NM_000252.3(MTM1):c.734C>T (p.Pro245Leu)
|
rs1557413958
|
|
|
NM_000252.3(MTM1):c.742G>A (p.Gly248Ser)
|
rs368335697
|
|
|
NM_000252.3(MTM1):c.745A>G (p.Met249Val)
|
|
|
|
NM_000252.3(MTM1):c.74A>G (p.Asp25Gly)
|
|
|
|
NM_000252.3(MTM1):c.753G>A (p.Gly251=)
|
rs1603192655
|
|
|
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter)
|
rs587783854
|
|
|
NM_000252.3(MTM1):c.76_90del (p.Gly26_Asp30del)
|
rs1603124011
|
|
|
NM_000252.3(MTM1):c.774G>A (p.Glu258=)
|
rs2148493209
|
|
|
NM_000252.3(MTM1):c.784G>A (p.Asp262Asn)
|
|
|
|
NM_000252.3(MTM1):c.787G>A (p.Val263Ile)
|
|
|
|
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile)
|
|
|
|
NM_000252.3(MTM1):c.804_805del (p.Asn268fs)
|
|
|
|
NM_000252.3(MTM1):c.810A>G (p.Gln270=)
|
rs782474609
|
|
|
NM_000252.3(MTM1):c.816T>G (p.Ser272=)
|
rs2148493297
|
|
|
NM_000252.3(MTM1):c.819_820dup (p.Leu274fs)
|
rs2148493304
|
|
|
NM_000252.3(MTM1):c.821T>G (p.Leu274Arg)
|
rs2148493317
|
|
|
NM_000252.3(MTM1):c.825C>T (p.Thr275=)
|
rs2148493322
|
|
|
NM_000252.3(MTM1):c.834T>C (p.Asp278=)
|
|
|
|
NM_000252.3(MTM1):c.83A>G (p.Asn28Ser)
|
|
|
|
NM_000252.3(MTM1):c.843C>T (p.Pro281=)
|
|
|
|
NM_000252.3(MTM1):c.846C>T (p.Ser282=)
|
rs375301020
|
|
|
NM_000252.3(MTM1):c.867+13_867+15del
|
|
|
|
NM_000252.3(MTM1):c.867+1G>A
|
rs587783858
|
|
|
NM_000252.3(MTM1):c.867+2T>A
|
|
|
|
NM_000252.3(MTM1):c.868-11T>C
|
|
|
|
NM_000252.3(MTM1):c.868-14A>G
|
|
|
|
NM_000252.3(MTM1):c.868-9_868-7del
|
rs2148497680
|
|
|
NM_000252.3(MTM1):c.87A>C (p.Arg29=)
|
|
|
|
NM_000252.3(MTM1):c.894T>C (p.Asp298=)
|
|
|
|
NM_000252.3(MTM1):c.898G>A (p.Ala300Thr)
|
rs2148497733
|
|
|
NM_000252.3(MTM1):c.900A>G (p.Ala300=)
|
|
|
|
NM_000252.3(MTM1):c.905A>G (p.His302Arg)
|
rs2148497756
|
|
|
NM_000252.3(MTM1):c.912C>T (p.Ala304=)
|
rs782504569
|
|
|
NM_000252.3(MTM1):c.913G>A (p.Glu305Lys)
|
rs587783861
|
|
|
NM_000252.3(MTM1):c.913G>C (p.Glu305Gln)
|
rs587783861
|
|
|
NM_000252.3(MTM1):c.930C>T (p.Asp310=)
|
rs1603196546
|
|
|
NM_000252.3(MTM1):c.944A>G (p.His315Arg)
|
rs2148497817
|
|
|
NM_000252.3(MTM1):c.946G>A (p.Val316Ile)
|
rs2148497828
|
|
|
NM_000252.3(MTM1):c.949dup (p.Met317fs)
|
rs797045722
|
|
|
NM_000252.3(MTM1):c.952C>T (p.Arg318Trp)
|
rs2039989751
|
|
|
NM_000252.3(MTM1):c.963A>T (p.Leu321Phe)
|
|
|
|
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer)
|
rs587783865
|
|
|
NM_000252.3(MTM1):c.969dup (p.Val324fs)
|
rs587783865
|
|
|
NM_000252.3(MTM1):c.972G>A (p.Val324=)
|
|
|
|
NM_000252.3(MTM1):c.989C>T (p.Pro330Leu)
|
rs2148497898
|
|
|
NM_000252.3(MTM1):c.990T>C (p.Pro330=)
|
|
|
|
NM_000252.3(MTM1):c.996A>G (p.Val332=)
|
|
|
|
NM_000252.3(MTM1):c.99G>A (p.Glu33=)
|
|
|
|
NM_001100.3(ACTA1):c.220G>C (p.Glu74Gln)
|
rs727503798
|
|
|
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)
|
rs121909531
|
|
|
NM_001100.4(ACTA1):c.1001C>G (p.Pro334Arg)
|
rs1553255312
|
|
|
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu)
|
rs1553255312
|
|
|
NM_001100.4(ACTA1):c.1003C>G (p.Pro335Ala)
|
rs1558081384
|
|
|
NM_001100.4(ACTA1):c.1004C>T (p.Pro335Leu)
|
rs1057518493
|
|
|
NM_001100.4(ACTA1):c.1006del (p.Glu336fs)
|
|
|
|
NM_001100.4(ACTA1):c.1010G>A (p.Arg337His)
|
|
|
|
NM_001100.4(ACTA1):c.1014A>C (p.Lys338Asn)
|
rs1553255306
|
|
|
NM_001100.4(ACTA1):c.1015T>A (p.Tyr339Asn)
|
|
|
|
NM_001100.4(ACTA1):c.1018T>G (p.Ser340Ala)
|
|
|
|
NM_001100.4(ACTA1):c.102G>A (p.Pro34=)
|
|
|
|
NM_001100.4(ACTA1):c.102G>C (p.Pro34=)
|
|
|
|
NM_001100.4(ACTA1):c.102G>T (p.Pro34=)
|
rs147303135
|
|
|
NM_001100.4(ACTA1):c.1030G>A (p.Gly344Ser)
|
|
|
|
NM_001100.4(ACTA1):c.1031G>A (p.Gly344Asp)
|
rs1558081360
|
|
|
NM_001100.4(ACTA1):c.1033G>A (p.Gly345Ser)
|
|
|
|
NM_001100.4(ACTA1):c.1043T>A (p.Leu348Gln)
|
rs2102735038
|
|
|
NM_001100.4(ACTA1):c.1044_1060del (p.Ala349fs)
|
rs2102735016
|
|
|
NM_001100.4(ACTA1):c.1049C>T (p.Ser350Leu)
|
rs2102735031
|
|
|
NM_001100.4(ACTA1):c.104C>G (p.Ser35Cys)
|
rs2102736568
|
|
|
NM_001100.4(ACTA1):c.1054T>C (p.Ser352Pro)
|
rs1553255301
|
|
|
NM_001100.4(ACTA1):c.1057A>G (p.Thr353Ala)
|
rs1659934469
|
|
|
NM_001100.4(ACTA1):c.1061T>C (p.Phe354Ser)
|
|
|
|
NM_001100.4(ACTA1):c.1071G>C (p.Met357Ile)
|
rs745494410
|
|
|
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys)
|
rs587777354
|
|
|
NM_001100.4(ACTA1):c.1075A>G (p.Ile359Val)
|
|
|
|
NM_001100.4(ACTA1):c.1083G>A (p.Lys361=)
|
|
|
|
NM_001100.4(ACTA1):c.108C>T (p.Ile36=)
|
rs143948837
|
|
|
NM_001100.4(ACTA1):c.1098G>A (p.Glu366=)
|
|
|
|
NM_001100.4(ACTA1):c.109G>C (p.Val37Leu)
|
rs1553255521
|
|
|
NM_001100.4(ACTA1):c.109G>T (p.Val37Leu)
|
rs1553255521
|
|
|
NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu)
|
rs1553255293
|
|
|
NM_001100.4(ACTA1):c.1109C>A (p.Ser370Tyr)
|
rs1553255290
|
|
|
NM_001100.4(ACTA1):c.1123A>G (p.Lys375Glu)
|
rs1571892209
|
|
|
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe)
|
rs1571892196
|
|
|
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)
|
rs1659932688
|
|
|
NM_001100.4(ACTA1):c.1132T>C (p.Ter378Gln)
|
rs1553255288
|
|
|
NM_001100.4(ACTA1):c.113G>A (p.Gly38Asp)
|
rs2102736562
|
|
|
NM_001100.4(ACTA1):c.119C>G (p.Pro40Arg)
|
rs1659984455
|
|
|
NM_001100.4(ACTA1):c.121C>G (p.Arg41Gly)
|
rs1429699993
|
|
|
NM_001100.4(ACTA1):c.124C>T (p.His42Tyr)
|
rs2102736554
|
|
|
NM_001100.4(ACTA1):c.128A>G (p.Gln43Arg)
|
rs1659984269
|
|
|
NM_001100.4(ACTA1):c.129+15C>T
|
|
|
|
NM_001100.4(ACTA1):c.129+16C>T
|
rs148084911
|
|
|
NM_001100.4(ACTA1):c.129+4A>T
|
|
|
|
NM_001100.4(ACTA1):c.130-11C>A
|
|
|
|
NM_001100.4(ACTA1):c.130-1G>A
|
|
|
|
NM_001100.4(ACTA1):c.130-20G>T
|
rs201437341
|
|
|
NM_001100.4(ACTA1):c.130-3C>T
|
|
|
|
NM_001100.4(ACTA1):c.130-5_130-4inv
|
|
|
|
NM_001100.4(ACTA1):c.130-9G>T
|
rs1553255511
|
|
|
NM_001100.4(ACTA1):c.130G>T (p.Gly44Cys)
|
rs1131691941
|
|
|
NM_001100.4(ACTA1):c.131G>T (p.Gly44Val)
|
rs1558082125
|
|
|
NM_001100.4(ACTA1):c.133G>A (p.Val45Ile)
|
rs398123562
|
|
|
NM_001100.4(ACTA1):c.133G>T (p.Val45Phe)
|
rs398123562
|
|
|
NM_001100.4(ACTA1):c.137T>C (p.Met46Thr)
|
rs1057521120
|
|
|
NM_001100.4(ACTA1):c.141C>A (p.Val47=)
|
rs535751046
|
|
|
NM_001100.4(ACTA1):c.142G>A (p.Gly48Ser)
|
rs794727488
|
|
|
NM_001100.4(ACTA1):c.142G>C (p.Gly48Arg)
|
rs794727488
|
|
|
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp)
|
rs367543049
|
|
|
NM_001100.4(ACTA1):c.143G>T (p.Gly48Val)
|
rs367543049
|
|
|
NM_001100.4(ACTA1):c.145A>G (p.Met49Val)
|
|
|
|
NM_001100.4(ACTA1):c.146T>G (p.Met49Arg)
|
rs1553255506
|
|
|
NM_001100.4(ACTA1):c.148G>T (p.Gly50Cys)
|
rs1558082103
|
|
|
NM_001100.4(ACTA1):c.150T>C (p.Gly50=)
|
|
|
|
NM_001100.4(ACTA1):c.153G>C (p.Gln51His)
|
rs2102736429
|
|
|
NM_001100.4(ACTA1):c.155_158del (p.Lys52fs)
|
rs1659979809
|
|
|
NM_001100.4(ACTA1):c.169G>C (p.Gly57Arg)
|
rs2102736416
|
|
|
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)
|
rs367543048
|
|
|
NM_001100.4(ACTA1):c.172G>A (p.Asp58Asn)
|
rs1085308014
|
|
|
NM_001100.4(ACTA1):c.181C>T (p.Gln61Ter)
|
rs2102736408
|
|
|
NM_001100.4(ACTA1):c.191G>T (p.Arg64Ile)
|
rs2102736399
|
|
|
NM_001100.4(ACTA1):c.197T>A (p.Ile66Asn)
|
rs1553255502
|
|
|
NM_001100.4(ACTA1):c.197T>G (p.Ile66Ser)
|
rs1553255502
|
|
|
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg)
|
rs1659978909
|
|
|
NM_001100.4(ACTA1):c.215C>T (p.Pro72Leu)
|
|
|
|
NM_001100.4(ACTA1):c.216T>A (p.Pro72=)
|
|
|
|
NM_001100.4(ACTA1):c.217dup (p.Ile73fs)
|
rs1571893878
|
|
|
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile)
|
rs1659978452
|
|
|
NM_001100.4(ACTA1):c.249C>T (p.Asp83=)
|
|
|
|
NM_001100.4(ACTA1):c.24C>T (p.Thr8=)
|
|
|
|
NM_001100.4(ACTA1):c.275_277del (p.Phe92del)
|
rs1558082053
|
|
|
NM_001100.4(ACTA1):c.280A>T (p.Asn94Tyr)
|
|
|
|
NM_001100.4(ACTA1):c.282C>A (p.Asn94Lys)
|
rs772124885
|
|
|
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys)
|
rs1571893814
|
|
|
NM_001100.4(ACTA1):c.284A>G (p.Glu95Gly)
|
|
|
|
NM_001100.4(ACTA1):c.286C>G (p.Leu96Val)
|
rs2102736312
|
|
|
NM_001100.4(ACTA1):c.300C>G (p.Pro100=)
|
rs1571893786
|
|
|
NM_001100.4(ACTA1):c.300C>T (p.Pro100=)
|
|
|
|
NM_001100.4(ACTA1):c.304G>A (p.Glu102Lys)
|
rs1057520216
|
|
|
NM_001100.4(ACTA1):c.306G>A (p.Glu102=)
|
|
|
|
NM_001100.4(ACTA1):c.307C>T (p.His103Tyr)
|
|
|
|
NM_001100.4(ACTA1):c.311C>A (p.Pro104His)
|
|
|
|
NM_001100.4(ACTA1):c.312C>G (p.Pro104=)
|
rs1289671104
|
|
|
NM_001100.4(ACTA1):c.323C>T (p.Thr108Ile)
|
rs1659976518
|
|
|
NM_001100.4(ACTA1):c.331_348del (p.Pro111_Ala116del)
|
|
|
|
NM_001100.4(ACTA1):c.334C>A (p.Leu112Ile)
|
rs146508471
|
|
|
NM_001100.4(ACTA1):c.338A>G (p.Asn113Ser)
|
|
|
|
NM_001100.4(ACTA1):c.346G>A (p.Ala116Thr)
|
rs1659975786
|
|
|
NM_001100.4(ACTA1):c.346G>T (p.Ala116Ser)
|
rs1659975786
|
|
|
NM_001100.4(ACTA1):c.349A>T (p.Asn117Tyr)
|
|
|
|
NM_001100.4(ACTA1):c.350A>G (p.Asn117Ser)
|
rs121909520
|
|
|
NM_001100.4(ACTA1):c.358A>C (p.Lys120Gln)
|
|
|
|
NM_001100.4(ACTA1):c.366C>A (p.Thr122=)
|
|
|
|
NM_001100.4(ACTA1):c.36C>A (p.Cys12Ter)
|
rs1025502215
|
|
|
NM_001100.4(ACTA1):c.370A>G (p.Ile124Val)
|
|
|
|
NM_001100.4(ACTA1):c.37G>A (p.Asp13Asn)
|
rs1571894217
|
|
|
NM_001100.4(ACTA1):c.391G>A (p.Val131Met)
|
rs1273559032
|
|
|
NM_001100.4(ACTA1):c.39C>A (p.Asp13Glu)
|
rs1659986880
|
|
|
NM_001100.4(ACTA1):c.3G>A (p.Met1Ile)
|
|
|
|
NM_001100.4(ACTA1):c.400del (p.Met134fs)
|
rs2102736194
|
|
|
NM_001100.4(ACTA1):c.402G>A (p.Met134Ile)
|
rs1553255486
|
|
|
NM_001100.4(ACTA1):c.405C>T (p.Tyr135=)
|
|
|
|
NM_001100.4(ACTA1):c.407T>C (p.Val136Ala)
|
|
|
|
NM_001100.4(ACTA1):c.40A>T (p.Asn14Tyr)
|
rs2102736617
|
|
|
NM_001100.4(ACTA1):c.410C>A (p.Ala137Asp)
|
|
|
|
NM_001100.4(ACTA1):c.414C>G (p.Ile138Met)
|
rs121909526
|
|
|
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp)
|
rs1435160117
|
|
|
NM_001100.4(ACTA1):c.419C>G (p.Ala140Gly)
|
rs1435160117
|
|
|
NM_001100.4(ACTA1):c.425T>C (p.Leu142Pro)
|
rs1553255482
|
|
|
NM_001100.4(ACTA1):c.425T>G (p.Leu142Arg)
|
rs1553255482
|
|
|
NM_001100.4(ACTA1):c.427T>C (p.Ser143Pro)
|
rs1659973563
|
|
|
NM_001100.4(ACTA1):c.428C>T (p.Ser143Phe)
|
|
|
|
NM_001100.4(ACTA1):c.430C>T (p.Leu144Phe)
|
rs886039557
|
|
|
NM_001100.4(ACTA1):c.431T>C (p.Leu144Pro)
|
|
|
|
NM_001100.4(ACTA1):c.434A>T (p.Tyr145Phe)
|
|
|
|
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)
|
rs371410845
|
|
|
NM_001100.4(ACTA1):c.437C>T (p.Ala146Val)
|
rs1659973054
|
|
|
NM_001100.4(ACTA1):c.441C>T (p.Ser147=)
|
rs1400389136
|
|
|
NM_001100.4(ACTA1):c.442G>C (p.Gly148Arg)
|
rs398123563
|
|
|
NM_001100.4(ACTA1):c.446G>A (p.Arg149Lys)
|
rs398123564
|
|
|
NM_001100.4(ACTA1):c.449C>G (p.Thr150Ser)
|
rs1553255479
|
|
|
NM_001100.4(ACTA1):c.452C>A (p.Thr151Asn)
|
rs2102736155
|
|
|
NM_001100.4(ACTA1):c.453C>G (p.Thr151=)
|
rs76030344
|
|
|
NM_001100.4(ACTA1):c.453C>T (p.Thr151=)
|
rs76030344
|
|
|
NM_001100.4(ACTA1):c.454+14del
|
|
|
|
NM_001100.4(ACTA1):c.454+15C>A
|
rs201388631
|
|
|
NM_001100.4(ACTA1):c.454+15C>T
|
rs201388631
|
|
|
NM_001100.4(ACTA1):c.454+18C>G
|
|
|
|
NM_001100.4(ACTA1):c.455-20TC[2]
|
|
|
|
NM_001100.4(ACTA1):c.455-7C>A
|
|
|
|
NM_001100.4(ACTA1):c.455-8G>A
|
rs1456352180
|
|
|
NM_001100.4(ACTA1):c.461T>C (p.Val154Ala)
|
rs1553255446
|
|
|
NM_001100.4(ACTA1):c.461_478del (p.Val154_Asp159del)
|
rs1553255444
|
|
|
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser)
|
rs1064794652
|
|
|
NM_001100.4(ACTA1):c.48C>T (p.Ser16=)
|
|
|
|
NM_001100.4(ACTA1):c.491A>G (p.Asn164Ser)
|
|
|
|
NM_001100.4(ACTA1):c.493G>A (p.Val165Met)
|
rs121909522
|
|
|
NM_001100.4(ACTA1):c.49G>A (p.Gly17Ser)
|
rs121909521
|
|
|
NM_001100.4(ACTA1):c.509G>A (p.Gly170Asp)
|
rs2102735950
|
|
|
NM_001100.4(ACTA1):c.50G>A (p.Gly17Asp)
|
|
|
|
NM_001100.4(ACTA1):c.515C>T (p.Ala172Val)
|
rs587780272
|
|
|
NM_001100.4(ACTA1):c.516G>C (p.Ala172=)
|
|
|
|
NM_001100.4(ACTA1):c.517C>A (p.Leu173Met)
|
rs2102735941
|
|
|
NM_001100.4(ACTA1):c.532A>C (p.Met178Leu)
|
|
|
|
NM_001100.4(ACTA1):c.538C>T (p.Leu180=)
|
|
|
|
NM_001100.4(ACTA1):c.541del (p.Asp181fs)
|
rs759242559
|
|
|
NM_001100.4(ACTA1):c.553C>A (p.Arg185Ser)
|
rs1064794287
|
|
|
NM_001100.4(ACTA1):c.553C>T (p.Arg185Cys)
|
rs1064794287
|
|
|
NM_001100.4(ACTA1):c.555C>A (p.Arg185=)
|
rs759606148
|
|
|
NM_001100.4(ACTA1):c.556G>A (p.Asp186Asn)
|
rs2102735904
|
|
|
NM_001100.4(ACTA1):c.557A>G (p.Asp186Gly)
|
rs1571893319
|
|
|
NM_001100.4(ACTA1):c.575T>C (p.Met192Thr)
|
rs1057523333
|
|
|
NM_001100.4(ACTA1):c.587C>T (p.Thr196Ile)
|
rs2102735869
|
|
|
NM_001100.4(ACTA1):c.591G>T (p.Glu197Asp)
|
rs869312739
|
|
|
NM_001100.4(ACTA1):c.592C>T (p.Arg198Cys)
|
rs1659962016
|
|
|
NM_001100.4(ACTA1):c.598T>A (p.Tyr200Asn)
|
rs1553255432
|
|
|
NM_001100.4(ACTA1):c.599A>G (p.Tyr200Cys)
|
rs2102735854
|
|
|
NM_001100.4(ACTA1):c.603C>T (p.Ser201=)
|
|
|
|
NM_001100.4(ACTA1):c.60A>C (p.Lys20Asn)
|
rs1659986226
|
|
|
NM_001100.4(ACTA1):c.611C>T (p.Thr204Ile)
|
|
|
|
NM_001100.4(ACTA1):c.616+13C>T
|
|
|
|
NM_001100.4(ACTA1):c.616+19C>T
|
rs374307939
|
|
|
NM_001100.4(ACTA1):c.616+20C>A
|
|
|
|
NM_001100.4(ACTA1):c.616+4C>G
|
rs371799971
|
|
|
NM_001100.4(ACTA1):c.616+4C>T
|
rs371799971
|
|
|
NM_001100.4(ACTA1):c.616G>A (p.Ala206Thr)
|
rs1057521119
|
|
|
NM_001100.4(ACTA1):c.617-10C>T
|
|
|
|
NM_001100.4(ACTA1):c.617-20C>T
|
|
|
|
NM_001100.4(ACTA1):c.617-5C>A
|
rs199804338
|
|
|
NM_001100.4(ACTA1):c.617-8C>T
|
|
|
|
NM_001100.4(ACTA1):c.617C>T (p.Ala206Val)
|
rs1571893145
|
|
|
NM_001100.4(ACTA1):c.61G>A (p.Ala21Thr)
|
rs1659986179
|
|
|
NM_001100.4(ACTA1):c.620A>T (p.Glu207Val)
|
|
|
|
NM_001100.4(ACTA1):c.624C>A (p.Arg208=)
|
|
|
|
NM_001100.4(ACTA1):c.627G>A (p.Glu209=)
|
|
|
|
NM_001100.4(ACTA1):c.627G>T (p.Glu209Asp)
|
|
|
|
NM_001100.4(ACTA1):c.63C>T (p.Ala21=)
|
|
|
|
NM_001100.4(ACTA1):c.645G>A (p.Lys215=)
|
rs1553255420
|
|
|
NM_001100.4(ACTA1):c.64G>T (p.Gly22Cys)
|
|
|
|
NM_001100.4(ACTA1):c.651G>A (p.Lys217=)
|
|
|
|
NM_001100.4(ACTA1):c.652C>T (p.Leu218=)
|
|
|
|
NM_001100.4(ACTA1):c.659A>T (p.Tyr220Phe)
|
rs1571893107
|
|
|
NM_001100.4(ACTA1):c.660C>A (p.Tyr220Ter)
|
rs201823652
|
|
|
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)
|
rs121909530
|
|
|
NM_001100.4(ACTA1):c.676G>A (p.Glu226Lys)
|
rs1057521118
|
|
|
NM_001100.4(ACTA1):c.676G>C (p.Glu226Gln)
|
rs1057521118
|
|
|
NM_001100.4(ACTA1):c.682G>C (p.Glu228Gln)
|
rs1558081664
|
|
|
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter)
|
rs1558081664
|
|
|
NM_001100.4(ACTA1):c.685A>T (p.Met229Leu)
|
rs794727714
|
|
|
NM_001100.4(ACTA1):c.693G>A (p.Thr231=)
|
rs1571893071
|
|
|
NM_001100.4(ACTA1):c.697_698delinsAA (p.Ala233Asn)
|
rs2102735641
|
|
|
NM_001100.4(ACTA1):c.69C>A (p.Phe23Leu)
|
|
|
|
NM_001100.4(ACTA1):c.704C>A (p.Ser235Tyr)
|
rs2102735630
|
|
|
NM_001100.4(ACTA1):c.709T>C (p.Ser237Pro)
|
|
|
|
NM_001100.4(ACTA1):c.712del (p.Leu238fs)
|
rs1211561143
|
|
|
NM_001100.4(ACTA1):c.713T>C (p.Leu238Pro)
|
rs1571893051
|
|
|
NM_001100.4(ACTA1):c.716A>G (p.Glu239Gly)
|
|
|
|
NM_001100.4(ACTA1):c.723C>T (p.Ser241=)
|
|
|
|
NM_001100.4(ACTA1):c.726C>T (p.Tyr242=)
|
|
|
|
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys)
|
rs367543051
|
|
|
NM_001100.4(ACTA1):c.727G>C (p.Glu243Gln)
|
|
|
|
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu)
|
rs748592740
|
|
|
NM_001100.4(ACTA1):c.738C>G (p.Asp246Glu)
|
|
|
|
NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg)
|
rs1057521117
|
|
|
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg)
|
rs1057521117
|
|
|
NM_001100.4(ACTA1):c.742C>A (p.Gln248Lys)
|
rs1659954634
|
|
|
NM_001100.4(ACTA1):c.751A>T (p.Thr251Ser)
|
|
|
|
NM_001100.4(ACTA1):c.757G>T (p.Gly253Cys)
|
rs2102735572
|
|
|
NM_001100.4(ACTA1):c.758G>A (p.Gly253Asp)
|
|
|
|
NM_001100.4(ACTA1):c.766C>T (p.Arg256Cys)
|
rs1558081624
|
|
|
NM_001100.4(ACTA1):c.767G>A (p.Arg256His)
|
rs1659954003
|
|
|
NM_001100.4(ACTA1):c.794A>G (p.Gln265Arg)
|
|
|
|
NM_001100.4(ACTA1):c.796C>T (p.Pro266Ser)
|
rs1553255405
|
|
|
NM_001100.4(ACTA1):c.797C>T (p.Pro266Leu)
|
|
|
|
NM_001100.4(ACTA1):c.800C>G (p.Ser267Cys)
|
rs2102735536
|
|
|
NM_001100.4(ACTA1):c.803T>C (p.Phe268Ser)
|
rs1558081605
|
|
|
NM_001100.4(ACTA1):c.805A>G (p.Ile269Val)
|
|
|
|
NM_001100.4(ACTA1):c.808+16C>G
|
|
|
|
NM_001100.4(ACTA1):c.808+18T>C
|
|
|
|
NM_001100.4(ACTA1):c.808+3G>A
|
rs549268481
|
|
|
NM_001100.4(ACTA1):c.808+9C>A
|
rs1158027118
|
|
|
NM_001100.4(ACTA1):c.808G>A (p.Gly270Ser)
|
|
|
|
NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg)
|
rs121909525
|
|
|
NM_001100.4(ACTA1):c.809-10C>A
|
rs1659945481
|
|
|
NM_001100.4(ACTA1):c.809-11G>A
|
|
|
|
NM_001100.4(ACTA1):c.809-13_809-12dup
|
rs201427429
|
|
|
NM_001100.4(ACTA1):c.809-13dup
|
rs201427429
|
|
|
NM_001100.4(ACTA1):c.809-14G>A
|
|
|
|
NM_001100.4(ACTA1):c.809-14G>C
|
rs6673359
|
|
|
NM_001100.4(ACTA1):c.809-14G>T
|
rs6673359
|
|
|
NM_001100.4(ACTA1):c.809-14_809-13insT
|
|
|
|
NM_001100.4(ACTA1):c.809-16_809-15insA
|
|
|
|
NM_001100.4(ACTA1):c.809-18_809-17insG
|
|
|
|
NM_001100.4(ACTA1):c.809-18dup
|
rs398123565
|
|
|
NM_001100.4(ACTA1):c.809-19T>A
|
|
|
|
NM_001100.4(ACTA1):c.809-3del
|
|
|
|
NM_001100.4(ACTA1):c.809-9G>A
|
|
|
|
NM_001100.4(ACTA1):c.80A>G (p.Asp27Gly)
|
rs1553255534
|
|
|
NM_001100.4(ACTA1):c.811A>G (p.Met271Val)
|
rs1553255361
|
|
|
NM_001100.4(ACTA1):c.812T>G (p.Met271Arg)
|
rs1553255360
|
|
|
NM_001100.4(ACTA1):c.819_820delinsTT (p.Ala274Ser)
|
|
|
|
NM_001100.4(ACTA1):c.81C>A (p.Asp27Glu)
|
rs1553255533
|
|
|
NM_001100.4(ACTA1):c.821C>A (p.Ala274Glu)
|
rs1553255357
|
|
|
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val)
|
rs1553255357
|
|
|
NM_001100.4(ACTA1):c.82G>A (p.Ala28Thr)
|
|
|
|
NM_001100.4(ACTA1):c.82_83delinsTG (p.Ala28Cys)
|
rs2102736585
|
|
|
NM_001100.4(ACTA1):c.836C>A (p.Thr279Asn)
|
|
|
|
NM_001100.4(ACTA1):c.841T>C (p.Tyr281His)
|
rs2102735278
|
|
|
NM_001100.4(ACTA1):c.842A>G (p.Tyr281Cys)
|
rs1659944113
|
|
|
NM_001100.4(ACTA1):c.844A>C (p.Asn282His)
|
|
|
|
NM_001100.4(ACTA1):c.846C>G (p.Asn282Lys)
|
rs2102735270
|
|
|
NM_001100.4(ACTA1):c.866T>A (p.Ile289Asn)
|
rs1659943773
|
|
|
NM_001100.4(ACTA1):c.897C>A (p.Asn299Lys)
|
rs533868659
|
|
|
NM_001100.4(ACTA1):c.898G>T (p.Val300Phe)
|
rs1553255349
|
|
|
NM_001100.4(ACTA1):c.906G>A (p.Ser302=)
|
|
|
|
NM_001100.4(ACTA1):c.911G>A (p.Gly304Asp)
|
rs2102735242
|
|
|
NM_001100.4(ACTA1):c.920T>G (p.Met307Arg)
|
|
|
|
NM_001100.4(ACTA1):c.922T>C (p.Tyr308His)
|
rs2102735230
|
|
|
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys)
|
rs878854374
|
|
|
NM_001100.4(ACTA1):c.93C>T (p.Ala31=)
|
|
|
|
NM_001100.4(ACTA1):c.960C>T (p.Thr320=)
|
rs1571892542
|
|
|
NM_001100.4(ACTA1):c.963G>A (p.Ala321=)
|
rs374599062
|
|
|
NM_001100.4(ACTA1):c.963G>C (p.Ala321=)
|
rs374599062
|
|
|
NM_001100.4(ACTA1):c.963G>T (p.Ala321=)
|
|
|
|
NM_001100.4(ACTA1):c.963_968del (p.Leu322_Ala323del)
|
rs1553255336
|
|
|
NM_001100.4(ACTA1):c.964C>G (p.Leu322Val)
|
rs1659940726
|
|
|
NM_001100.4(ACTA1):c.965T>A (p.Leu322Gln)
|
rs1571892527
|
|
|
NM_001100.4(ACTA1):c.980T>A (p.Met327Lys)
|
rs2102735175
|
|
|
NM_001100.4(ACTA1):c.981G>C (p.Met327Ile)
|
rs1553255334
|
|
|
NM_001100.4(ACTA1):c.983_985del (p.Lys328del)
|
rs1659939983
|
|
|
NM_001100.4(ACTA1):c.984G>A (p.Lys328=)
|
rs398122936
|
|
|
NM_001100.4(ACTA1):c.986T>C (p.Ile329Thr)
|
|
|
|
NM_001100.4(ACTA1):c.986_989dup (p.Lys330fs)
|
|
|
|
NM_001100.4(ACTA1):c.990+10G>C
|
|
|
|
NM_001100.4(ACTA1):c.990+3G>T
|
|
|
|
NM_001100.4(ACTA1):c.990+6TGG[3]
|
rs2102735162
|
|
|
NM_001100.4(ACTA1):c.991-12G>C
|
|
|
|
NM_001100.4(ACTA1):c.991-12G>T
|
|
|
|
NM_001100.4(ACTA1):c.991-14G>C
|
|
|
|
NM_001100.4(ACTA1):c.991-14G>T
|
|
|
|
NM_001101362.3(KBTBD13):c.-20_265del (p.Met1_Gln89del)
|
rs2086974277
|
|
|
NM_001101362.3(KBTBD13):c.1001C>A (p.Ala334Asp)
|
|
|
|
NM_001101362.3(KBTBD13):c.1001C>T (p.Ala334Val)
|
rs200804273
|
|
|
NM_001101362.3(KBTBD13):c.1002C>G (p.Ala334=)
|
|
|
|
NM_001101362.3(KBTBD13):c.1002C>T (p.Ala334=)
|
|
|
|
NM_001101362.3(KBTBD13):c.1005_1006delinsAA (p.Leu336Met)
|
rs2140545326
|
|
|
NM_001101362.3(KBTBD13):c.1006C>A (p.Leu336Met)
|
rs1131691634
|
|
|
NM_001101362.3(KBTBD13):c.1006C>G (p.Leu336Val)
|
rs1131691634
|
|
|
NM_001101362.3(KBTBD13):c.1020G>C (p.Gln340His)
|
|
|
|
NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys)
|
|
|
|
NM_001101362.3(KBTBD13):c.1029C>T (p.Gly343=)
|
rs940307766
|
|
|
NM_001101362.3(KBTBD13):c.1034G>C (p.Cys345Ser)
|
|
|
|
NM_001101362.3(KBTBD13):c.103C>T (p.Leu35Phe)
|
|
|
|
NM_001101362.3(KBTBD13):c.1042del (p.Ala348fs)
|
rs760102500
|
|
|
NM_001101362.3(KBTBD13):c.1044C>G (p.Ala348=)
|
|
|
|
NM_001101362.3(KBTBD13):c.1047C>T (p.His349=)
|
|
|
|
NM_001101362.3(KBTBD13):c.1048C>T (p.Arg350Cys)
|
|
|
|
NM_001101362.3(KBTBD13):c.1050C>T (p.Arg350=)
|
|
|
|
NM_001101362.3(KBTBD13):c.1066G>C (p.Val356Leu)
|
|
|
|
NM_001101362.3(KBTBD13):c.1069C>T (p.Arg357Cys)
|
|
|
|
NM_001101362.3(KBTBD13):c.1070G>T (p.Arg357Leu)
|
rs1456044134
|
|
|
NM_001101362.3(KBTBD13):c.1080T>A (p.Pro360=)
|
|
|
|
NM_001101362.3(KBTBD13):c.1083C>G (p.Ser361=)
|
rs760978865
|
|
|
NM_001101362.3(KBTBD13):c.1108G>C (p.Asp370His)
|
rs779342567
|
|
|
NM_001101362.3(KBTBD13):c.1122G>A (p.Leu374=)
|
|
|
|
NM_001101362.3(KBTBD13):c.113C>G (p.Ser38Cys)
|
|
|
|
NM_001101362.3(KBTBD13):c.114C>T (p.Ser38=)
|
rs771263021
|
|
|
NM_001101362.3(KBTBD13):c.1150G>A (p.Gly384Ser)
|
|
|
|
NM_001101362.3(KBTBD13):c.1158C>G (p.Phe386Leu)
|
|
|
|
NM_001101362.3(KBTBD13):c.115G>T (p.Gly39Cys)
|
rs201420126
|
|
|
NM_001101362.3(KBTBD13):c.1163A>G (p.Asn388Ser)
|
rs2087004754
|
|
|
NM_001101362.3(KBTBD13):c.1171G>A (p.Gly391Arg)
|
|
|
|
NM_001101362.3(KBTBD13):c.1184C>G (p.Thr395Arg)
|
rs758995387
|
|
|
NM_001101362.3(KBTBD13):c.1187C>T (p.Ala396Val)
|
|
|
|
NM_001101362.3(KBTBD13):c.118A>G (p.Met40Val)
|
rs1479237002
|
|
|
NM_001101362.3(KBTBD13):c.1196G>A (p.Arg399His)
|
|
|
|
NM_001101362.3(KBTBD13):c.1205_1206insGCACTATAC (p.Thr402_Val403insHisTyrThr)
|
rs2087006011
|
|
|
NM_001101362.3(KBTBD13):c.1206C>A (p.Thr402=)
|
|
|
|
NM_001101362.3(KBTBD13):c.1206C>G (p.Thr402=)
|
rs2087006106
|
|
|
NM_001101362.3(KBTBD13):c.1206C>T (p.Thr402=)
|
rs2087006106
|
|
|
NM_001101362.3(KBTBD13):c.1209C>G (p.Val403=)
|
|
|
|
NM_001101362.3(KBTBD13):c.121C>A (p.Arg41=)
|
|
|
|
NM_001101362.3(KBTBD13):c.1222C>T (p.Arg408Cys)
|
rs387907090
|
|
|
NM_001101362.3(KBTBD13):c.1222dup (p.Arg408fs)
|
|
|
|
NM_001101362.3(KBTBD13):c.1225A>C (p.Met409Leu)
|
|
|
|
NM_001101362.3(KBTBD13):c.1233G>A (p.Thr411=)
|
|
|
|
NM_001101362.3(KBTBD13):c.1240T>C (p.Tyr414His)
|
rs1555407759
|
|
|
NM_001101362.3(KBTBD13):c.1241A>G (p.Tyr414Cys)
|
rs2140545943
|
|
|
NM_001101362.3(KBTBD13):c.1249G>C (p.Glu417Gln)
|
|
|
|
NM_001101362.3(KBTBD13):c.1260C>T (p.Thr420=)
|
rs1177062291
|
|
|
NM_001101362.3(KBTBD13):c.1264C>A (p.Arg422=)
|
|
|
|
NM_001101362.3(KBTBD13):c.1274G>C (p.Arg425Thr)
|
|
|
|
NM_001101362.3(KBTBD13):c.1292C>T (p.Pro431Leu)
|
|
|
|
NM_001101362.3(KBTBD13):c.1294C>A (p.Arg432=)
|
rs1376646798
|
|
|
NM_001101362.3(KBTBD13):c.1297C>T (p.Pro433Ser)
|
rs1555407773
|
|
|
NM_001101362.3(KBTBD13):c.1299C>T (p.Pro433=)
|
|
|
|
NM_001101362.3(KBTBD13):c.1307T>A (p.Leu436Ter)
|
rs2140546093
|
|
|
NM_001101362.3(KBTBD13):c.1309C>G (p.Gln437Glu)
|
rs749128043
|
|
|
NM_001101362.3(KBTBD13):c.1322T>A (p.Leu441Gln)
|
|
|
|
NM_001101362.3(KBTBD13):c.1323A>C (p.Leu441=)
|
rs2140546127
|
|
|
NM_001101362.3(KBTBD13):c.1334C>A (p.Pro445His)
|
rs192406963
|
|
|
NM_001101362.3(KBTBD13):c.133G>T (p.Ala45Ser)
|
|
|
|
NM_001101362.3(KBTBD13):c.1356T>G (p.Thr452=)
|
|
|
|
NM_001101362.3(KBTBD13):c.1358C>G (p.Ser453Trp)
|
|
|
|
NM_001101362.3(KBTBD13):c.1358C>T (p.Ser453Leu)
|
rs753712072
|
|
|
NM_001101362.3(KBTBD13):c.1361C>T (p.Thr454Ile)
|
|
|
|
NM_001101362.3(KBTBD13):c.1365G>C (p.Thr455=)
|
|
|
|
NM_001101362.3(KBTBD13):c.1366del (p.Ala456fs)
|
|
|
|
NM_001101362.3(KBTBD13):c.136G>C (p.Ala46Pro)
|
|
|
|
NM_001101362.3(KBTBD13):c.1373T>C (p.Leu458Pro)
|
rs2140546272
|
|
|
NM_001101362.3(KBTBD13):c.138A>C (p.Ala46=)
|
|
|
|
NM_001101362.3(KBTBD13):c.139G>A (p.Glu47Lys)
|
|
|
|
NM_001101362.3(KBTBD13):c.13C>G (p.Pro5Ala)
|
rs2086975088
|
|
|
NM_001101362.3(KBTBD13):c.140A>G (p.Glu47Gly)
|
|
|
|
NM_001101362.3(KBTBD13):c.141G>A (p.Glu47=)
|
|
|
|
NM_001101362.3(KBTBD13):c.142G>T (p.Val48Leu)
|
|
|
|
NM_001101362.3(KBTBD13):c.143T>C (p.Val48Ala)
|
|
|
|
NM_001101362.3(KBTBD13):c.145C>T (p.Arg49Cys)
|
|
|
|
NM_001101362.3(KBTBD13):c.146G>C (p.Arg49Pro)
|
|
|
|
NM_001101362.3(KBTBD13):c.146G>T (p.Arg49Leu)
|
rs1027726798
|
|
|
NM_001101362.3(KBTBD13):c.152G>C (p.Gly51Ala)
|
|
|
|
NM_001101362.3(KBTBD13):c.162C>T (p.Ser54=)
|
rs1162054356
|
|
|
NM_001101362.3(KBTBD13):c.164C>T (p.Ala55Val)
|
rs757684085
|
|
|
NM_001101362.3(KBTBD13):c.165G>A (p.Ala55=)
|
|
|
|
NM_001101362.3(KBTBD13):c.165G>C (p.Ala55=)
|
rs779148387
|
|
|
NM_001101362.3(KBTBD13):c.168A>C (p.Gly56=)
|
rs1339755233
|
|
|
NM_001101362.3(KBTBD13):c.170del (p.Gly57fs)
|
rs1555407559
|
|
|
NM_001101362.3(KBTBD13):c.172_191del (p.Phe58fs)
|
rs778782105
|
|
|
NM_001101362.3(KBTBD13):c.174C>A (p.Phe58Leu)
|
|
|
|
NM_001101362.3(KBTBD13):c.175C>G (p.Arg59Gly)
|
|
|
|
NM_001101362.3(KBTBD13):c.175C>T (p.Arg59Cys)
|
rs1406748219
|
|
|
NM_001101362.3(KBTBD13):c.176G>A (p.Arg59His)
|
|
|
|
NM_001101362.3(KBTBD13):c.178G>C (p.Ala60Pro)
|
|
|
|
NM_001101362.3(KBTBD13):c.182C>T (p.Thr61Met)
|
|
|
|
NM_001101362.3(KBTBD13):c.185T>C (p.Leu62Pro)
|
rs907742667
|
|
|
NM_001101362.3(KBTBD13):c.191T>G (p.Val64Gly)
|
|
|
|
NM_001101362.3(KBTBD13):c.194T>C (p.Leu65Pro)
|
|
|
|
NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His)
|
rs939242678
|
|
|
NM_001101362.3(KBTBD13):c.198C>A (p.Arg66=)
|
rs1265388791
|
|
|
NM_001101362.3(KBTBD13):c.199G>A (p.Gly67Ser)
|
|
|
|
NM_001101362.3(KBTBD13):c.199G>C (p.Gly67Arg)
|
rs770087291
|
|
|
NM_001101362.3(KBTBD13):c.206G>C (p.Arg69Pro)
|
|
|
|
NM_001101362.3(KBTBD13):c.209C>G (p.Pro70Arg)
|
rs766269932
|
|
|
NM_001101362.3(KBTBD13):c.209C>T (p.Pro70Leu)
|
rs766269932
|
|
|
NM_001101362.3(KBTBD13):c.217G>A (p.Ala73Thr)
|
rs1313295854
|
|
|
NM_001101362.3(KBTBD13):c.218C>A (p.Ala73Glu)
|
|
|
|
NM_001101362.3(KBTBD13):c.219G>A (p.Ala73=)
|
rs868363260
|
|
|
NM_001101362.3(KBTBD13):c.21C>T (p.Thr7=)
|
|
|
|
NM_001101362.3(KBTBD13):c.225G>A (p.Glu75=)
|
|
|
|
NM_001101362.3(KBTBD13):c.225G>C (p.Glu75Asp)
|
|
|
|
NM_001101362.3(KBTBD13):c.226G>A (p.Asp76Asn)
|
rs1258831129
|
|
|
NM_001101362.3(KBTBD13):c.229G>C (p.Glu77Gln)
|
|
|
|
NM_001101362.3(KBTBD13):c.229_271dup (p.Pro91fs)
|
rs1401828622
|
|
|
NM_001101362.3(KBTBD13):c.238C>T (p.Gln80Ter)
|
rs886051333
|
|
|
NM_001101362.3(KBTBD13):c.23T>C (p.Leu8Pro)
|
|
|
|
NM_001101362.3(KBTBD13):c.241_242insTCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGG (p.Gln80_Ala81insValValGluCysAlaAlaPheLeuGlnAlaProAlaLeuAlaAlaGluAspGluLeuLeuGln)
|
|
|
|
NM_001101362.3(KBTBD13):c.247G>T (p.Glu83Ter)
|
rs781438362
|
|
|
NM_001101362.3(KBTBD13):c.253G>A (p.Ala85Thr)
|
rs1595912432
|
|
|
NM_001101362.3(KBTBD13):c.25G>T (p.Val9Leu)
|
|
|
|
NM_001101362.3(KBTBD13):c.269C>T (p.Ala90Val)
|
|
|
|
NM_001101362.3(KBTBD13):c.272_286dup (p.Arg95_Phe96insSerAlaLeuAlaArg)
|
|
|
|
NM_001101362.3(KBTBD13):c.277C>T (p.Leu93=)
|
rs1176522700
|
|
|
NM_001101362.3(KBTBD13):c.27G>A (p.Val9=)
|
|
|
|
NM_001101362.3(KBTBD13):c.283C>T (p.Arg95Cys)
|
|
|
|
NM_001101362.3(KBTBD13):c.284G>C (p.Arg95Pro)
|
rs1160768354
|
|
|
NM_001101362.3(KBTBD13):c.288T>C (p.Phe96=)
|
rs759474251
|
|
|
NM_001101362.3(KBTBD13):c.288T>G (p.Phe96Leu)
|
rs759474251
|
|
|
NM_001101362.3(KBTBD13):c.291G>C (p.Leu97=)
|
|
|
|
NM_001101362.3(KBTBD13):c.292G>A (p.Glu98Lys)
|
rs752222694
|
|
|
NM_001101362.3(KBTBD13):c.292G>C (p.Glu98Gln)
|
|
|
|
NM_001101362.3(KBTBD13):c.292G>T (p.Glu98Ter)
|
|
|
|
NM_001101362.3(KBTBD13):c.293A>T (p.Glu98Val)
|
rs930704522
|
|
|
NM_001101362.3(KBTBD13):c.308C>T (p.Ser103Leu)
|
rs1235549563
|
|
|
NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=)
|
rs760134475
|
|
|
NM_001101362.3(KBTBD13):c.314A>T (p.Asn105Ile)
|
rs2086983386
|
|
|
NM_001101362.3(KBTBD13):c.315C>T (p.Asn105=)
|
|
|
|
NM_001101362.3(KBTBD13):c.318C>T (p.Cys106=)
|
rs1217296620
|
|
|
NM_001101362.3(KBTBD13):c.31G>A (p.Val11Met)
|
|
|
|
NM_001101362.3(KBTBD13):c.320C>G (p.Ala107Gly)
|
rs1264692363
|
|
|
NM_001101362.3(KBTBD13):c.325C>T (p.Leu109=)
|
rs2086983618
|
|
|
NM_001101362.3(KBTBD13):c.325_327dup (p.Leu109_Cys110insLeu)
|
|
|
|
NM_001101362.3(KBTBD13):c.331G>C (p.Asp111His)
|
|
|
|
NM_001101362.3(KBTBD13):c.331G>T (p.Asp111Tyr)
|
|
|
|
NM_001101362.3(KBTBD13):c.333C>G (p.Asp111Glu)
|
rs188146580
|
|
|
NM_001101362.3(KBTBD13):c.333C>T (p.Asp111=)
|
rs188146580
|
|
|
NM_001101362.3(KBTBD13):c.335C>A (p.Ala112Glu)
|
|
|
|
NM_001101362.3(KBTBD13):c.336G>A (p.Ala112=)
|
rs995813983
|
|
|
NM_001101362.3(KBTBD13):c.336G>C (p.Ala112=)
|
|
|
|
NM_001101362.3(KBTBD13):c.340G>C (p.Ala114Pro)
|
rs1344068633
|
|
|
NM_001101362.3(KBTBD13):c.342C>A (p.Ala114=)
|
rs538410855
|
|
|
NM_001101362.3(KBTBD13):c.342C>G (p.Ala114=)
|
rs538410855
|
|
|
NM_001101362.3(KBTBD13):c.348C>A (p.Phe116Leu)
|
rs1222501717
|
|
|
NM_001101362.3(KBTBD13):c.34T>G (p.Trp12Gly)
|
|
|
|
NM_001101362.3(KBTBD13):c.350_351delinsCA (p.Gly117Ala)
|
rs2086984445
|
|
|
NM_001101362.3(KBTBD13):c.355C>G (p.Arg119Gly)
|
rs1222805926
|
|
|
NM_001101362.3(KBTBD13):c.357C>G (p.Arg119=)
|
|
|
|
NM_001101362.3(KBTBD13):c.360C>G (p.Asp120Glu)
|
|
|
|
NM_001101362.3(KBTBD13):c.361G>A (p.Val121Met)
|
rs201466173
|
|
|
NM_001101362.3(KBTBD13):c.361G>C (p.Val121Leu)
|
rs201466173
|
|
|
NM_001101362.3(KBTBD13):c.363G>A (p.Val121=)
|
rs2140543822
|
|
|
NM_001101362.3(KBTBD13):c.369C>T (p.His123=)
|
|
|
|
NM_001101362.3(KBTBD13):c.370A>G (p.Ser124Gly)
|
|
|
|
NM_001101362.3(KBTBD13):c.374C>G (p.Ala125Gly)
|
rs575149903
|
|
|
NM_001101362.3(KBTBD13):c.378_379delinsTG (p.Leu127Val)
|
|
|
|
NM_001101362.3(KBTBD13):c.381_382dup (p.Phe128fs)
|
|
|
|
NM_001101362.3(KBTBD13):c.387C>G (p.Ile129Met)
|
rs1246047806
|
|
|
NM_001101362.3(KBTBD13):c.389G>C (p.Cys130Ser)
|
rs1316788781
|
|
|
NM_001101362.3(KBTBD13):c.391G>A (p.Asp131Asn)
|
rs1244704984
|
|
|
NM_001101362.3(KBTBD13):c.392A>C (p.Asp131Ala)
|
|
|
|
NM_001101362.3(KBTBD13):c.393C>T (p.Asp131=)
|
rs544721592
|
|
|
NM_001101362.3(KBTBD13):c.397G>A (p.Glu133Lys)
|
rs192935606
|
|
|
NM_001101362.3(KBTBD13):c.400C>G (p.Arg134Gly)
|
|
|
|
NM_001101362.3(KBTBD13):c.402C>G (p.Arg134=)
|
|
|
|
NM_001101362.3(KBTBD13):c.403G>C (p.Glu135Gln)
|
rs530549178
|
|
|
NM_001101362.3(KBTBD13):c.405G>C (p.Glu135Asp)
|
rs2086986320
|
|
|
NM_001101362.3(KBTBD13):c.40G>A (p.Gly14Ser)
|
|
|
|
NM_001101362.3(KBTBD13):c.412_423dup (p.Ala138_Ala141dup)
|
rs2086986389
|
|
|
NM_001101362.3(KBTBD13):c.415G>A (p.Glu139Lys)
|
rs1244821047
|
|
|
NM_001101362.3(KBTBD13):c.418C>T (p.Leu140=)
|
rs2140544006
|
|
|
NM_001101362.3(KBTBD13):c.423G>A (p.Ala141=)
|
|
|
|
NM_001101362.3(KBTBD13):c.424C>A (p.Leu142Met)
|
rs1476921965
|
|
|
NM_001101362.3(KBTBD13):c.429T>C (p.Pro143=)
|
rs1057522825
|
|
|
NM_001101362.3(KBTBD13):c.432G>C (p.Glu144Asp)
|
|
|
|
NM_001101362.3(KBTBD13):c.434C>A (p.Ala145Asp)
|
|
|
|
NM_001101362.3(KBTBD13):c.435C>G (p.Ala145=)
|
rs2140544064
|
|
|
NM_001101362.3(KBTBD13):c.439G>A (p.Ala147Thr)
|
|
|
|
NM_001101362.3(KBTBD13):c.444C>G (p.Tyr148Ter)
|
|
|
|
NM_001101362.3(KBTBD13):c.449C>T (p.Ala150Val)
|
|
|
|
NM_001101362.3(KBTBD13):c.456_457delinsAA (p.Leu152_Arg153=)
|
|
|
|
NM_001101362.3(KBTBD13):c.458G>A (p.Arg153Gln)
|
|
|
|
NM_001101362.3(KBTBD13):c.470A>T (p.Tyr157Phe)
|
rs1481116487
|
|
|
NM_001101362.3(KBTBD13):c.471C>G (p.Tyr157Ter)
|
rs550724858
|
|
|
NM_001101362.3(KBTBD13):c.473_474del (p.Ala158fs)
|
|
|
|
NM_001101362.3(KBTBD13):c.474G>A (p.Ala158=)
|
|
|
|
NM_001101362.3(KBTBD13):c.474G>C (p.Ala158=)
|
|
|
|
NM_001101362.3(KBTBD13):c.475G>A (p.Ala159Thr)
|
rs2140544169
|
|
|
NM_001101362.3(KBTBD13):c.475_478dup (p.Val160fs)
|
|
|
|
NM_001101362.3(KBTBD13):c.477C>A (p.Ala159=)
|
rs1052175397
|
|
|
NM_001101362.3(KBTBD13):c.477del (p.Ala159_Val160insTer)
|
rs1555407608
|
|
|
NM_001101362.3(KBTBD13):c.481A>T (p.Ser161Cys)
|
|
|
|
NM_001101362.3(KBTBD13):c.495C>G (p.Pro165=)
|
|
|
|
NM_001101362.3(KBTBD13):c.496G>C (p.Ala166Pro)
|
rs777916743
|
|
|
NM_001101362.3(KBTBD13):c.502G>A (p.Gly168Ser)
|
rs1595912667
|
|
|
NM_001101362.3(KBTBD13):c.516C>G (p.Asp172Glu)
|
rs142592180
|
|
|
NM_001101362.3(KBTBD13):c.516C>T (p.Asp172=)
|
rs142592180
|
|
|
NM_001101362.3(KBTBD13):c.519C>T (p.Ala173=)
|
|
|
|
NM_001101362.3(KBTBD13):c.521C>G (p.Ser174Trp)
|
rs772025364
|
|
|
NM_001101362.3(KBTBD13):c.521C>T (p.Ser174Leu)
|
rs772025364
|
|
|
NM_001101362.3(KBTBD13):c.524G>C (p.Arg175Pro)
|
rs1226640143
|
|
|
NM_001101362.3(KBTBD13):c.527C>T (p.Thr176Met)
|
|
|
|
NM_001101362.3(KBTBD13):c.537C>G (p.Tyr179Ter)
|
rs1465166108
|
|
|
NM_001101362.3(KBTBD13):c.537C>T (p.Tyr179=)
|
|
|
|
NM_001101362.3(KBTBD13):c.53T>G (p.Phe18Cys)
|
rs949994452
|
|
|
NM_001101362.3(KBTBD13):c.541G>T (p.Asp181Tyr)
|
|
|
|
NM_001101362.3(KBTBD13):c.544G>T (p.Glu182Ter)
|
rs952061379
|
|
|
NM_001101362.3(KBTBD13):c.549A>G (p.Glu183=)
|
|
|
|
NM_001101362.3(KBTBD13):c.552G>C (p.Glu184Asp)
|
rs1595912705
|
|
|
NM_001101362.3(KBTBD13):c.563G>A (p.Arg188His)
|
|
|
|
NM_001101362.3(KBTBD13):c.566C>T (p.Thr189Met)
|
rs2086990476
|
|
|
NM_001101362.3(KBTBD13):c.571G>C (p.Ala191Pro)
|
rs2086990576
|
|
|
NM_001101362.3(KBTBD13):c.572C>G (p.Ala191Gly)
|
rs1014978095
|
|
|
NM_001101362.3(KBTBD13):c.579G>A (p.Leu193=)
|
|
|
|
NM_001101362.3(KBTBD13):c.580C>T (p.Pro194Ser)
|
|
|
|
NM_001101362.3(KBTBD13):c.581C>T (p.Pro194Leu)
|
rs1481658087
|
|
|
NM_001101362.3(KBTBD13):c.582C>T (p.Pro194=)
|
rs1184536215
|
|
|
NM_001101362.3(KBTBD13):c.589G>A (p.Ala197Thr)
|
|
|
|
NM_001101362.3(KBTBD13):c.592A>G (p.Ser198Gly)
|
|
|
|
NM_001101362.3(KBTBD13):c.594C>G (p.Ser198Arg)
|
rs1365801743
|
|
|
NM_001101362.3(KBTBD13):c.597G>A (p.Thr199=)
|
|
|
|
NM_001101362.3(KBTBD13):c.607G>A (p.Gly203Arg)
|
rs944113571
|
|
|
NM_001101362.3(KBTBD13):c.607_615del (p.Gly203_Ala205del)
|
rs1595912738
|
|
|
NM_001101362.3(KBTBD13):c.610G>A (p.Val204Met)
|
|
|
|
NM_001101362.3(KBTBD13):c.614C>T (p.Ala205Val)
|
|
|
|
NM_001101362.3(KBTBD13):c.615C>T (p.Ala205=)
|
rs1243976277
|
|
|
NM_001101362.3(KBTBD13):c.623G>A (p.Gly208Asp)
|
rs1198118426
|
|
|
NM_001101362.3(KBTBD13):c.625A>T (p.Asn209Tyr)
|
|
|
|
NM_001101362.3(KBTBD13):c.626A>G (p.Asn209Ser)
|
rs1039913863
|
|
|
NM_001101362.3(KBTBD13):c.627C>T (p.Asn209=)
|
|
|
|
NM_001101362.3(KBTBD13):c.62A>C (p.Asp21Ala)
|
|
|
|
NM_001101362.3(KBTBD13):c.634_638del (p.Tyr212fs)
|
rs748327666
|
|
|
NM_001101362.3(KBTBD13):c.640G>A (p.Val214Met)
|
|
|
|
NM_001101362.3(KBTBD13):c.642G>C (p.Val214=)
|
|
|
|
NM_001101362.3(KBTBD13):c.653G>A (p.Arg218His)
|
|
|
|
NM_001101362.3(KBTBD13):c.654C>T (p.Arg218=)
|
|
|
|
NM_001101362.3(KBTBD13):c.656G>C (p.Gly219Ala)
|
|
|
|
NM_001101362.3(KBTBD13):c.657C>A (p.Gly219=)
|
rs1337483952
|
|
|
NM_001101362.3(KBTBD13):c.65G>T (p.Arg22Leu)
|
|
|
|
NM_001101362.3(KBTBD13):c.662G>A (p.Ser221Asn)
|
|
|
|
NM_001101362.3(KBTBD13):c.697C>A (p.Pro233Thr)
|
|
|
|
NM_001101362.3(KBTBD13):c.700G>A (p.Asp234Asn)
|
|
|
|
NM_001101362.3(KBTBD13):c.702C>G (p.Asp234Glu)
|
rs761192296
|
|
|
NM_001101362.3(KBTBD13):c.703G>A (p.Gly235Ser)
|
rs1278649126
|
|
|
NM_001101362.3(KBTBD13):c.706G>A (p.Gly236Ser)
|
|
|
|
NM_001101362.3(KBTBD13):c.718G>A (p.Glu240Lys)
|
rs1293899823
|
|
|
NM_001101362.3(KBTBD13):c.72G>T (p.Leu24=)
|
rs2086976441
|
|
|
NM_001101362.3(KBTBD13):c.738G>A (p.Gln246=)
|
|
|
|
NM_001101362.3(KBTBD13):c.740C>G (p.Pro247Arg)
|
|
|
|
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser)
|
rs200549195
|
|
|
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys)
|
rs200549195
|
|
|
NM_001101362.3(KBTBD13):c.746A>G (p.Tyr249Cys)
|
|
|
|
NM_001101362.3(KBTBD13):c.751A>C (p.Thr251Pro)
|
|
|
|
NM_001101362.3(KBTBD13):c.751A>G (p.Thr251Ala)
|
rs757250245
|
|
|
NM_001101362.3(KBTBD13):c.752_753del (p.Thr251fs)
|
rs770027984
|
|
|
NM_001101362.3(KBTBD13):c.756G>T (p.Ala252=)
|
rs1431328866
|
|
|
NM_001101362.3(KBTBD13):c.756_757delinsAA (p.Leu253Met)
|
rs2086994718
|
|
|
NM_001101362.3(KBTBD13):c.75_76delinsCT (p.Val26Leu)
|
rs2140543014
|
|
|
NM_001101362.3(KBTBD13):c.768C>A (p.Phe256Leu)
|
|
|
|
NM_001101362.3(KBTBD13):c.769G>A (p.Asp257Asn)
|
rs568675071
|
|
|
NM_001101362.3(KBTBD13):c.76G>A (p.Val26Met)
|
rs775846405
|
|
|
NM_001101362.3(KBTBD13):c.782A>G (p.Tyr261Cys)
|
rs958756775
|
|
|
NM_001101362.3(KBTBD13):c.783C>T (p.Tyr261=)
|
|
|
|
NM_001101362.3(KBTBD13):c.784G>A (p.Ala262Thr)
|
|
|
|
NM_001101362.3(KBTBD13):c.792C>T (p.Gly264=)
|
|
|
|
NM_001101362.3(KBTBD13):c.797_798delinsTG (p.Glu266Val)
|
|
|
|
NM_001101362.3(KBTBD13):c.823G>C (p.Val275Leu)
|
rs1566960251
|
|
|
NM_001101362.3(KBTBD13):c.829C>G (p.Arg277Gly)
|
rs754708028
|
|
|
NM_001101362.3(KBTBD13):c.830G>A (p.Arg277His)
|
rs1233365626
|
|
|
NM_001101362.3(KBTBD13):c.83A>G (p.His28Arg)
|
|
|
|
NM_001101362.3(KBTBD13):c.842C>T (p.Ala281Val)
|
rs1171797812
|
|
|
NM_001101362.3(KBTBD13):c.843C>T (p.Ala281=)
|
|
|
|
NM_001101362.3(KBTBD13):c.847G>A (p.Gly283Ser)
|
rs770737413
|
|
|
NM_001101362.3(KBTBD13):c.861C>G (p.Phe287Leu)
|
rs777259450
|
|
|
NM_001101362.3(KBTBD13):c.862G>A (p.Val288Met)
|
|
|
|
NM_001101362.3(KBTBD13):c.867C>T (p.Ala289=)
|
|
|
|
NM_001101362.3(KBTBD13):c.86del (p.Cys29fs)
|
rs1191393272
|
|
|
NM_001101362.3(KBTBD13):c.886G>A (p.Ala296Thr)
|
|
|
|
NM_001101362.3(KBTBD13):c.887C>T (p.Ala296Val)
|
rs1469851032
|
|
|
NM_001101362.3(KBTBD13):c.888C>G (p.Ala296=)
|
rs529828976
|
|
|
NM_001101362.3(KBTBD13):c.888del (p.Gly297fs)
|
|
|
|
NM_001101362.3(KBTBD13):c.892G>C (p.Val298Leu)
|
|
|
|
NM_001101362.3(KBTBD13):c.90C>G (p.Gly30=)
|
rs2140543051
|
|
|
NM_001101362.3(KBTBD13):c.90C>T (p.Gly30=)
|
rs2140543051
|
|
|
NM_001101362.3(KBTBD13):c.921C>A (p.Leu307=)
|
rs773691737
|
|
|
NM_001101362.3(KBTBD13):c.925G>C (p.Val309Leu)
|
rs532324778
|
|
|
NM_001101362.3(KBTBD13):c.931C>T (p.Leu311=)
|
|
|
|
NM_001101362.3(KBTBD13):c.938G>T (p.Arg313Leu)
|
rs1399367095
|
|
|
NM_001101362.3(KBTBD13):c.939_940delinsAT (p.Pro314Ser)
|
rs2086999390
|
|
|
NM_001101362.3(KBTBD13):c.946G>A (p.Asp316Asn)
|
rs2140545192
|
|
|
NM_001101362.3(KBTBD13):c.949del (p.Thr317fs)
|
rs2140545202
|
|
|
NM_001101362.3(KBTBD13):c.954C>T (p.Thr318=)
|
rs368781046
|
|
|
NM_001101362.3(KBTBD13):c.957del (p.Val320fs)
|
|
|
|
NM_001101362.3(KBTBD13):c.958G>A (p.Val320Met)
|
rs367648853
|
|
|
NM_001101362.3(KBTBD13):c.958G>C (p.Val320Leu)
|
|
|
|
NM_001101362.3(KBTBD13):c.965_975del (p.Glu322fs)
|
rs2087000027
|
|
|
NM_001101362.3(KBTBD13):c.970G>A (p.Ala324Thr)
|
rs1216341966
|
|
|
NM_001101362.3(KBTBD13):c.972A>G (p.Ala324=)
|
|
|
|
NM_001101362.3(KBTBD13):c.977G>C (p.Arg326Pro)
|
rs779729198
|
|
|
NM_001101362.3(KBTBD13):c.97C>G (p.Arg33Gly)
|
|
|
|
NM_001101362.3(KBTBD13):c.985G>T (p.Ala329Ser)
|
rs1158844505
|
|
|
NM_001101362.3(KBTBD13):c.987G>A (p.Ala329=)
|
|
|
|
NM_001101362.3(KBTBD13):c.988T>A (p.Trp330Arg)
|
|
|
|
NM_001101362.3(KBTBD13):c.98G>A (p.Arg33Gln)
|
rs200548009
|
|
|
NM_001101362.3(KBTBD13):c.98G>C (p.Arg33Pro)
|
rs200548009
|
|
|
NM_001101362.3(KBTBD13):c.990G>C (p.Trp330Cys)
|
rs1064797021
|
|
|
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter)
|
rs1553679273
|
|
|
NM_001164507.2(NEB):c.21327T>C (p.Ala7109=)
|
|
|
|
NM_001164507.2(NEB):c.21348T>C (p.Asp7116=)
|
|
|
|
NM_001164507.2(NEB):c.21348T>G (p.Asp7116Glu)
|
rs199934793
|
|
|
NM_001164507.2(NEB):c.21352T>C (p.Tyr7118His)
|
|
|
|
NM_001164507.2(NEB):c.21354C>T (p.Tyr7118=)
|
|
|
|
NM_001164507.2(NEB):c.21372G>A (p.Glu7124=)
|
rs2153521425
|
|
|
NM_001164507.2(NEB):c.21375T>C (p.Pro7125=)
|
rs2153521407
|
|
|
NM_001164507.2(NEB):c.21375del (p.Arg7126fs)
|
|
|
|
NM_001164507.2(NEB):c.21381T>C (p.His7127=)
|
|
|
|
NM_001164507.2(NEB):c.21382C>T (p.Leu7128=)
|
rs2153521308
|
|
|
NM_001164507.2(NEB):c.21384G>C (p.Leu7128=)
|
|
|
|
NM_001164507.2(NEB):c.21393G>A (p.Lys7131=)
|
|
|
|
NM_001164507.2(NEB):c.21396C>A (p.Thr7132=)
|
rs759637718
|
|
|
NM_001164507.2(NEB):c.21396C>G (p.Thr7132=)
|
rs759637718
|
|
|
NM_001164507.2(NEB):c.21397G>A (p.Ala7133Thr)
|
|
|
|
NM_001164507.2(NEB):c.21397G>T (p.Ala7133Ser)
|
rs988993094
|
|
|
NM_001164507.2(NEB):c.21403G>A (p.Asp7135Asn)
|
|
|
|
NM_001164507.2(NEB):c.21406C>T (p.Gln7136Ter)
|
rs2153521056
|
|
|
NM_001164507.2(NEB):c.21408G>A (p.Gln7136=)
|
|
|
|
NM_001164508.2(NEB):c.10007T>C (p.Leu3336Pro)
|
rs1392434296
|
|
|
NM_001164508.2(NEB):c.10008G>C (p.Leu3336=)
|
rs1305733827
|
|
|
NM_001164508.2(NEB):c.10011A>G (p.Gly3337=)
|
|
|
|
NM_001164508.2(NEB):c.10012G>A (p.Val3338Met)
|
rs534475193
|
|
|
NM_001164508.2(NEB):c.10015G>T (p.Val3339Leu)
|
|
|
|
NM_001164508.2(NEB):c.10021G>T (p.Ala3341Ser)
|
rs1574279999
|
|
|
NM_001164508.2(NEB):c.10023C>T (p.Ala3341=)
|
|
|
|
NM_001164508.2(NEB):c.10026_10027insTG (p.Lys3343Ter)
|
|
|
|
NM_001164508.2(NEB):c.10036A>G (p.Thr3346Ala)
|
rs2098550963
|
|
|
NM_001164508.2(NEB):c.10038C>T (p.Thr3346=)
|
|
|
|
NM_001164508.2(NEB):c.10044C>T (p.Val3348=)
|
|
|
|
NM_001164508.2(NEB):c.10047C>T (p.Ser3349=)
|
rs763268909
|
|
|
NM_001164508.2(NEB):c.10048G>A (p.Asp3350Asn)
|
rs377180119
|
|
|
NM_001164508.2(NEB):c.1004T>A (p.Met335Lys)
|
|
|
|
NM_001164508.2(NEB):c.10056C>G (p.Asp3352Glu)
|
|
|
|
NM_001164508.2(NEB):c.10058A>G (p.Tyr3353Cys)
|
|
|
|
NM_001164508.2(NEB):c.10059C>T (p.Tyr3353=)
|
|
|
|
NM_001164508.2(NEB):c.10061A>G (p.Lys3354Arg)
|
|
|
|
NM_001164508.2(NEB):c.10065C>T (p.Asn3355=)
|
|
|
|
NM_001164508.2(NEB):c.10069C>T (p.Leu3357=)
|
|
|
|
NM_001164508.2(NEB):c.1006_1018del (p.Asn336fs)
|
rs2099738446
|
|
|
NM_001164508.2(NEB):c.10071G>A (p.Leu3357=)
|
|
|
|
NM_001164508.2(NEB):c.10080G>T (p.Trp3360Cys)
|
rs1574278301
|
|
|
NM_001164508.2(NEB):c.10083G>C (p.Thr3361=)
|
rs778762176
|
|
|
NM_001164508.2(NEB):c.10086C>T (p.Cys3362=)
|
rs1560627086
|
|
|
NM_001164508.2(NEB):c.10087C>A (p.Leu3363Met)
|
rs2098550303
|
|
|
NM_001164508.2(NEB):c.10087C>T (p.Leu3363=)
|
rs2098550303
|
|
|
NM_001164508.2(NEB):c.10101T>C (p.Asn3367=)
|
rs755069446
|
|
|
NM_001164508.2(NEB):c.10104T>C (p.Asp3368=)
|
|
|
|
NM_001164508.2(NEB):c.10119G>T (p.Arg3373=)
|
rs2154060193
|
|
|
NM_001164508.2(NEB):c.10125C>G (p.Ala3375=)
|
|
|
|
NM_001164508.2(NEB):c.10143+16C>T
|
|
|
|
NM_001164508.2(NEB):c.10143+18A>G
|
|
|
|
NM_001164508.2(NEB):c.10143+2T>G
|
|
|
|
NM_001164508.2(NEB):c.10143+5G>C
|
rs1158552388
|
|
|
NM_001164508.2(NEB):c.10143+7A>C
|
|
|
|
NM_001164508.2(NEB):c.10143+8A>G
|
rs2154060056
|
|
|
NM_001164508.2(NEB):c.10143+9_10143+12del
|
|
|
|
NM_001164508.2(NEB):c.10144-10_10144-7dup
|
rs2154058633
|
|
|
NM_001164508.2(NEB):c.10144-10_10144-9delinsG
|
rs1553928417
|
|
|
NM_001164508.2(NEB):c.10144-17GT[3]
|
|
|
|
NM_001164508.2(NEB):c.10144-17_10144-9dup
|
rs1574263120
|
|
|
NM_001164508.2(NEB):c.10144-2A>G
|
rs1435980710
|
|
|
NM_001164508.2(NEB):c.10144-6C>T
|
rs2154058627
|
|
|
NM_001164508.2(NEB):c.10144-7_10144-4del
|
rs764505319
|
|
|
NM_001164508.2(NEB):c.10144-7_10144-5del
|
rs2154058615
|
|
|
NM_001164508.2(NEB):c.10144-8C>A
|
|
|
|
NM_001164508.2(NEB):c.10146C>T (p.Asn3382=)
|
|
|
|
NM_001164508.2(NEB):c.1014A>G (p.Lys338=)
|
|
|
|
NM_001164508.2(NEB):c.10152C>A (p.Tyr3384Ter)
|
|
|
|
NM_001164508.2(NEB):c.10154A>T (p.Lys3385Ile)
|
|
|
|
NM_001164508.2(NEB):c.10155A>G (p.Lys3385=)
|
|
|
|
NM_001164508.2(NEB):c.10161T>C (p.Asp3387=)
|
|
|
|
NM_001164508.2(NEB):c.10164C>T (p.Leu3388=)
|
rs2154058483
|
|
|
NM_001164508.2(NEB):c.10167G>A (p.Gln3389=)
|
|
|
|
NM_001164508.2(NEB):c.1016C>T (p.Ala339Val)
|
|
|
|
NM_001164508.2(NEB):c.1017T>C (p.Ala339=)
|
|
|
|
NM_001164508.2(NEB):c.10185C>T (p.Gly3395=)
|
|
|
|
NM_001164508.2(NEB):c.10194C>T (p.Pro3398=)
|
|
|
|
NM_001164508.2(NEB):c.1019_1020insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGG (p.Val341fs)
|
|
|
|
NM_001164508.2(NEB):c.10211T>G (p.Val3404Gly)
|
rs2154058359
|
|
|
NM_001164508.2(NEB):c.10212G>A (p.Val3404=)
|
|
|
|
NM_001164508.2(NEB):c.10213G>T (p.Val3405Phe)
|
rs1553927988
|
|
|
NM_001164508.2(NEB):c.10217A>G (p.Lys3406Arg)
|
rs1574259964
|
|
|
NM_001164508.2(NEB):c.10228G>A (p.Ala3410Thr)
|
rs1298375132
|
|
|
NM_001164508.2(NEB):c.10231G>T (p.Ala3411Ser)
|
rs727504034
|
|
|
NM_001164508.2(NEB):c.10240C>T (p.Leu3414=)
|
|
|
|
NM_001164508.2(NEB):c.10242G>A (p.Leu3414=)
|
rs775450019
|
|
|
NM_001164508.2(NEB):c.10242G>C (p.Leu3414=)
|
rs775450019
|
|
|
NM_001164508.2(NEB):c.10254C>T (p.Ile3418=)
|
rs772147172
|
|
|
NM_001164508.2(NEB):c.10259G>A (p.Arg3420His)
|
|
|
|
NM_001164508.2(NEB):c.10266T>C (p.Pro3422=)
|
|
|
|
NM_001164508.2(NEB):c.10275G>A (p.Lys3425=)
|
rs1205545857
|
|
|
NM_001164508.2(NEB):c.10287C>T (p.Thr3429=)
|
|
|
|
NM_001164508.2(NEB):c.10289G>A (p.Ser3430Asn)
|
rs1370385550
|
|
|
NM_001164508.2(NEB):c.10299C>T (p.Asp3433=)
|
rs180847025
|
|
|
NM_001164508.2(NEB):c.10302T>A (p.Ser3434=)
|
rs776667734
|
|
|
NM_001164508.2(NEB):c.10302T>G (p.Ser3434=)
|
|
|
|
NM_001164508.2(NEB):c.10303C>G (p.Leu3435Val)
|
rs768451216
|
|
|
NM_001164508.2(NEB):c.10308G>A (p.Glu3436=)
|
|
|
|
NM_001164508.2(NEB):c.10314G>T (p.Val3438=)
|
|
|
|
NM_001164508.2(NEB):c.10316T>C (p.Leu3439Pro)
|
rs2154058008
|
|
|
NM_001164508.2(NEB):c.10317G>A (p.Leu3439=)
|
|
|
|
NM_001164508.2(NEB):c.10323G>A (p.Lys3441=)
|
rs1574255880
|
|
|
NM_001164508.2(NEB):c.10326C>G (p.Asn3442Lys)
|
|
|
|
NM_001164508.2(NEB):c.1032C>T (p.Ser344=)
|
|
|
|
NM_001164508.2(NEB):c.10332T>G (p.Ala3444=)
|
rs2154057946
|
|
|
NM_001164508.2(NEB):c.10335C>A (p.Leu3445=)
|
|
|
|
NM_001164508.2(NEB):c.10335C>T (p.Leu3445=)
|
rs188127282
|
|
|
NM_001164508.2(NEB):c.10347+11A>G
|
|
|
|
NM_001164508.2(NEB):c.10347+12A>G
|
|
|
|
NM_001164508.2(NEB):c.10347+16G>A
|
|
|
|
NM_001164508.2(NEB):c.10347+20G>A
|
|
|
|
NM_001164508.2(NEB):c.10347+20G>C
|
|
|
|
NM_001164508.2(NEB):c.10347+3G>A
|
rs1226603362
|
|
|
NM_001164508.2(NEB):c.10347+9C>T
|
rs2154057810
|
|
|
NM_001164508.2(NEB):c.10347G>A (p.Lys3449=)
|
rs1051033510
|
|
|
NM_001164508.2(NEB):c.10348-11A>G
|
|
|
|
NM_001164508.2(NEB):c.10348-17C>T
|
|
|
|
NM_001164508.2(NEB):c.10348-6T>A
|
|
|
|
NM_001164508.2(NEB):c.10349G>A (p.Arg3450His)
|
|
|
|
NM_001164508.2(NEB):c.1035+11A>G
|
|
|
|
NM_001164508.2(NEB):c.1035+15T>C
|
|
|
|
NM_001164508.2(NEB):c.1035+6A>G
|
rs1577251081
|
|
|
NM_001164508.2(NEB):c.10353A>T (p.Leu3451Phe)
|
|
|
|
NM_001164508.2(NEB):c.10358C>A (p.Thr3453Lys)
|
rs781408732
|
|
|
NM_001164508.2(NEB):c.10358C>G (p.Thr3453Arg)
|
|
|
|
NM_001164508.2(NEB):c.10359A>G (p.Thr3453=)
|
|
|
|
NM_001164508.2(NEB):c.1036-12T>G
|
|
|
|
NM_001164508.2(NEB):c.1036-15A>C
|
|
|
|
NM_001164508.2(NEB):c.1036-16T>C
|
|
|
|
NM_001164508.2(NEB):c.1036-4A>G
|
|
|
|
NM_001164508.2(NEB):c.1036-6C>A
|
|
|
|
NM_001164508.2(NEB):c.1036-8T>C
|
|
|
|
NM_001164508.2(NEB):c.1036-9C>T
|
rs773220407
|
|
|
NM_001164508.2(NEB):c.10369G>A (p.Asp3457Asn)
|
rs1319060772
|
|
|
NM_001164508.2(NEB):c.10373A>C (p.Lys3458Thr)
|
|
|
|
NM_001164508.2(NEB):c.10381A>G (p.Thr3461Ala)
|
|
|
|
NM_001164508.2(NEB):c.10387G>A (p.Val3463Ile)
|
|
|
|
NM_001164508.2(NEB):c.10389C>T (p.Val3463=)
|
rs2154052041
|
|
|
NM_001164508.2(NEB):c.10393A>G (p.Ile3465Val)
|
rs535926481
|
|
|
NM_001164508.2(NEB):c.10395T>C (p.Ile3465=)
|
rs756852049
|
|
|
NM_001164508.2(NEB):c.10411G>T (p.Glu3471Ter)
|
rs866949431
|
|
|
NM_001164508.2(NEB):c.10419G>T (p.Met3473Ile)
|
rs368842783
|
|
|
NM_001164508.2(NEB):c.10423G>T (p.Ala3475Ser)
|
rs2098506984
|
|
|
NM_001164508.2(NEB):c.10425A>T (p.Ala3475=)
|
|
|
|
NM_001164508.2(NEB):c.10433A>G (p.Asn3478Ser)
|
rs1246003078
|
|
|
NM_001164508.2(NEB):c.10433dup (p.Asn3478fs)
|
|
|
|
NM_001164508.2(NEB):c.10441_10445del (p.Ile3480_Asn3481insTer)
|
|
|
|
NM_001164508.2(NEB):c.10447A>G (p.Ser3483Gly)
|
|
|
|
NM_001164508.2(NEB):c.10452+14T>C
|
|
|
|
NM_001164508.2(NEB):c.10452+17T>C
|
|
|
|
NM_001164508.2(NEB):c.10452+3A>G
|
rs2154051876
|
|
|
NM_001164508.2(NEB):c.10452+7T>C
|
|
|
|
NM_001164508.2(NEB):c.10453-17A>C
|
rs2154027977
|
|
|
NM_001164508.2(NEB):c.10453-17A>G
|
|
|
|
NM_001164508.2(NEB):c.10453-20G>A
|
|
|
|
NM_001164508.2(NEB):c.10453-5C>T
|
rs2154027952
|
|
|
NM_001164508.2(NEB):c.10453-6C>T
|
|
|
|
NM_001164508.2(NEB):c.10453-7T>C
|
|
|
|
NM_001164508.2(NEB):c.10453A>T (p.Ser3485Cys)
|
rs2154027931
|
|
|
NM_001164508.2(NEB):c.10458C>G (p.Leu3486=)
|
|
|
|
NM_001164508.2(NEB):c.10462C>T (p.Arg3488Cys)
|
rs765175171
|
|
|
NM_001164508.2(NEB):c.10465C>T (p.Gln3489Ter)
|
|
|
|
NM_001164508.2(NEB):c.10470C>T (p.Ala3490=)
|
|
|
|
NM_001164508.2(NEB):c.1047A>G (p.Lys349=)
|
rs2149873980
|
|
|
NM_001164508.2(NEB):c.10485G>A (p.Lys3495=)
|
|
|
|
NM_001164508.2(NEB):c.10488A>G (p.Lys3496=)
|
rs2154027847
|
|
|
NM_001164508.2(NEB):c.10493del (p.Gly3498fs)
|
rs1574014358
|
|
|
NM_001164508.2(NEB):c.10497del (p.Gly3498_Tyr3499insTer)
|
rs2154027821
|
|
|
NM_001164508.2(NEB):c.10503G>A (p.Leu3501=)
|
|
|
|
NM_001164508.2(NEB):c.10509T>C (p.Ser3503=)
|
|
|
|
NM_001164508.2(NEB):c.10511A>G (p.Asp3504Gly)
|
|
|
|
NM_001164508.2(NEB):c.10519C>T (p.Pro3507Ser)
|
|
|
|
NM_001164508.2(NEB):c.10521C>G (p.Pro3507=)
|
|
|
|
NM_001164508.2(NEB):c.10521C>T (p.Pro3507=)
|
|
|
|
NM_001164508.2(NEB):c.10524T>C (p.Ile3508=)
|
|
|
|
NM_001164508.2(NEB):c.10535A>G (p.Lys3512Arg)
|
|
|
|
NM_001164508.2(NEB):c.10537G>A (p.Ala3513Thr)
|
rs1560541262
|
|
|
NM_001164508.2(NEB):c.10539C>T (p.Ala3513=)
|
rs2154027747
|
|
|
NM_001164508.2(NEB):c.10543C>A (p.Arg3515=)
|
|
|
|
NM_001164508.2(NEB):c.10545G>A (p.Arg3515=)
|
|
|
|
NM_001164508.2(NEB):c.10545_10552del (p.Asp3516fs)
|
|
|
|
NM_001164508.2(NEB):c.10554C>A (p.Ala3518=)
|
|
|
|
NM_001164508.2(NEB):c.10560+10G>C
|
|
|
|
NM_001164508.2(NEB):c.10560+13C>G
|
|
|
|
NM_001164508.2(NEB):c.10560+15A>C
|
|
|
|
NM_001164508.2(NEB):c.10560+16G>C
|
|
|
|
NM_001164508.2(NEB):c.10560+17T>C
|
|
|
|
NM_001164508.2(NEB):c.10560+4A>G
|
|
|
|
NM_001164508.2(NEB):c.10560+7G>A
|
|
|
|
NM_001164508.2(NEB):c.10561-15G>T
|
|
|
|
NM_001164508.2(NEB):c.10561-17T>C
|
|
|
|
NM_001164508.2(NEB):c.10561-7C>T
|
|
|
|
NM_001164508.2(NEB):c.10561-9C>T
|
rs1573943509
|
|
|
NM_001164508.2(NEB):c.10563C>T (p.Tyr3521=)
|
rs2154022884
|
|
|
NM_001164508.2(NEB):c.10564A>C (p.Lys3522Gln)
|
|
|
|
NM_001164508.2(NEB):c.10566A>G (p.Lys3522=)
|
rs2098336632
|
|
|
NM_001164508.2(NEB):c.10578A>C (p.Ala3526=)
|
rs760118695
|
|
|
NM_001164508.2(NEB):c.10591T>C (p.Leu3531=)
|
rs2098336175
|
|
|
NM_001164508.2(NEB):c.10598_10610del (p.His3533fs)
|
rs2154022757
|
|
|
NM_001164508.2(NEB):c.10599C>A (p.His3533Gln)
|
|
|
|
NM_001164508.2(NEB):c.10599C>T (p.His3533=)
|
|
|
|
NM_001164508.2(NEB):c.1059A>C (p.Glu353Asp)
|
|
|
|
NM_001164508.2(NEB):c.105G>T (p.Thr35=)
|
rs368075131
|
|
|
NM_001164508.2(NEB):c.10600C>T (p.His3534Tyr)
|
|
|
|
NM_001164508.2(NEB):c.10603A>T (p.Ile3535Phe)
|
|
|
|
NM_001164508.2(NEB):c.10611C>T (p.Ala3537=)
|
rs2154022749
|
|
|
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)
|
rs779909544
|
|
|
NM_001164508.2(NEB):c.10613G>A (p.Arg3538Gln)
|
|
|
|
NM_001164508.2(NEB):c.10613G>T (p.Arg3538Leu)
|
|
|
|
NM_001164508.2(NEB):c.10617A>G (p.Ala3539=)
|
|
|
|
NM_001164508.2(NEB):c.10624G>A (p.Asp3542Asn)
|
rs777939660
|
|
|
NM_001164508.2(NEB):c.10624G>C (p.Asp3542His)
|
|
|
|
NM_001164508.2(NEB):c.10626T>C (p.Asp3542=)
|
rs1560520848
|
|
|
NM_001164508.2(NEB):c.1063A>G (p.Asn355Asp)
|
|
|
|
NM_001164508.2(NEB):c.10650C>A (p.Leu3550=)
|
rs2154022652
|
|
|
NM_001164508.2(NEB):c.10650C>T (p.Leu3550=)
|
rs2154022652
|
|
|
NM_001164508.2(NEB):c.10654A>T (p.Ile3552Phe)
|
|
|
|
NM_001164508.2(NEB):c.10656T>A (p.Ile3552=)
|
|
|
|
NM_001164508.2(NEB):c.10657G>T (p.Ala3553Ser)
|
rs1372803594
|
|
|
NM_001164508.2(NEB):c.10660A>G (p.Lys3554Glu)
|
rs1553912139
|
|
|
NM_001164508.2(NEB):c.10662A>G (p.Lys3554=)
|
|
|
|
NM_001164508.2(NEB):c.10675C>G (p.Arg3559Gly)
|
rs751938843
|
|
|
NM_001164508.2(NEB):c.10687A>G (p.Lys3563Glu)
|
|
|
|
NM_001164508.2(NEB):c.10687A>T (p.Lys3563Ter)
|
rs1207279110
|
|
|
NM_001164508.2(NEB):c.1068_1096dup (p.Ala366fs)
|
|
|
|
NM_001164508.2(NEB):c.10706A>G (p.Lys3569Arg)
|
rs371572709
|
|
|
NM_001164508.2(NEB):c.10709C>T (p.Thr3570Ile)
|
|
|
|
NM_001164508.2(NEB):c.1070G>A (p.Gly357Glu)
|
rs1221725692
|
|
|
NM_001164508.2(NEB):c.10712G>A (p.Arg3571Lys)
|
rs761487598
|
|
|
NM_001164508.2(NEB):c.10722C>T (p.Ser3574=)
|
|
|
|
NM_001164508.2(NEB):c.10725A>G (p.Pro3575=)
|
|
|
|
NM_001164508.2(NEB):c.1074A>G (p.Lys358=)
|
rs2099709094
|
|
|
NM_001164508.2(NEB):c.10767C>G (p.Thr3589=)
|
|
|
|
NM_001164508.2(NEB):c.10767C>T (p.Thr3589=)
|
|
|
|
NM_001164508.2(NEB):c.10779T>C (p.Asp3593=)
|
rs2154022301
|
|
|
NM_001164508.2(NEB):c.1077A>G (p.Ala359=)
|
|
|
|
NM_001164508.2(NEB):c.1077A>T (p.Ala359=)
|
|
|
|
NM_001164508.2(NEB):c.10782G>T (p.Val3594=)
|
|
|
|
NM_001164508.2(NEB):c.10783G>A (p.Asp3595Asn)
|
|
|
|
NM_001164508.2(NEB):c.10788T>C (p.Tyr3596=)
|
|
|
|
NM_001164508.2(NEB):c.10792C>T (p.His3598Tyr)
|
|
|
|
NM_001164508.2(NEB):c.10798C>T (p.Leu3600=)
|
rs2154022281
|
|
|
NM_001164508.2(NEB):c.10798del (p.Leu3600fs)
|
|
|
|
NM_001164508.2(NEB):c.10800G>T (p.Leu3600=)
|
|
|
|
NM_001164508.2(NEB):c.10806A>G (p.Glu3602=)
|
rs763417230
|
|
|
NM_001164508.2(NEB):c.10807T>C (p.Trp3603Arg)
|
|
|
|
NM_001164508.2(NEB):c.10809G>A (p.Trp3603Ter)
|
rs10172023
|
|
|
NM_001164508.2(NEB):c.10809_10810delinsCG (p.Trp3603_Ile3604delinsCysVal)
|
rs1573936944
|
|
|
NM_001164508.2(NEB):c.10815C>T (p.Cys3605=)
|
|
|
|
NM_001164508.2(NEB):c.10817T>C (p.Leu3606Pro)
|
|
|
|
NM_001164508.2(NEB):c.10818G>A (p.Leu3606=)
|
|
|
|
NM_001164508.2(NEB):c.10819C>A (p.Pro3607Thr)
|
rs2098331597
|
|
|
NM_001164508.2(NEB):c.10821C>G (p.Pro3607=)
|
|
|
|
NM_001164508.2(NEB):c.10822G>A (p.Asp3608Asn)
|
|
|
|
NM_001164508.2(NEB):c.1083T>A (p.Tyr361Ter)
|
rs2149872738
|
|
|
NM_001164508.2(NEB):c.10842T>C (p.His3614=)
|
rs2154022111
|
|
|
NM_001164508.2(NEB):c.10845A>C (p.Ala3615=)
|
|
|
|
NM_001164508.2(NEB):c.10845A>G (p.Ala3615=)
|
rs1461539455
|
|
|
NM_001164508.2(NEB):c.10851A>G (p.Lys3617=)
|
|
|
|
NM_001164508.2(NEB):c.10855T>C (p.Tyr3619His)
|
|
|
|
NM_001164508.2(NEB):c.10861C>G (p.Leu3621Val)
|
rs1573934764
|
|
|
NM_001164508.2(NEB):c.10870G>A (p.Asp3624Asn)
|
|
|
|
NM_001164508.2(NEB):c.10872+11T>G
|
|
|
|
NM_001164508.2(NEB):c.10872+12T>C
|
|
|
|
NM_001164508.2(NEB):c.10872+14A>G
|
|
|
|
NM_001164508.2(NEB):c.10872+14A>T
|
|
|
|
NM_001164508.2(NEB):c.10872+17T>C
|
rs1216757775
|
|
|
NM_001164508.2(NEB):c.10872+19A>G
|
|
|
|
NM_001164508.2(NEB):c.10872+1G>A
|
rs1336053002
|
|
|
NM_001164508.2(NEB):c.10872+1del
|
|
|
|
NM_001164508.2(NEB):c.10872+2T>A
|
|
|
|
NM_001164508.2(NEB):c.10872+4A>G
|
|
|
|
NM_001164508.2(NEB):c.10872+8T>C
|
rs1406948370
|
|
|
NM_001164508.2(NEB):c.10873-13T>C
|
|
|
|
NM_001164508.2(NEB):c.10873-13T>G
|
|
|
|
NM_001164508.2(NEB):c.10873-14C>G
|
|
|
|
NM_001164508.2(NEB):c.10873-16A>G
|
|
|
|
NM_001164508.2(NEB):c.10873-4G>A
|
|
|
|
NM_001164508.2(NEB):c.10873-4G>T
|
rs2098277700
|
|
|
NM_001164508.2(NEB):c.10873-7T>C
|
|
|
|
NM_001164508.2(NEB):c.10875T>C (p.Asn3625=)
|
rs1182909673
|
|
|
NM_001164508.2(NEB):c.10880A>G (p.Tyr3627Cys)
|
rs573537251
|
|
|
NM_001164508.2(NEB):c.10884G>A (p.Lys3628=)
|
rs2154017407
|
|
|
NM_001164508.2(NEB):c.10884G>T (p.Lys3628Asn)
|
rs2154017407
|
|
|
NM_001164508.2(NEB):c.10887A>T (p.Ser3629=)
|
|
|
|
NM_001164508.2(NEB):c.10890C>T (p.Asp3630=)
|
rs2098277221
|
|
|
NM_001164508.2(NEB):c.10893T>G (p.Leu3631=)
|
rs2154017315
|
|
|
NM_001164508.2(NEB):c.10905A>G (p.Lys3635=)
|
rs1206850879
|
|
|
NM_001164508.2(NEB):c.10913G>C (p.Gly3638Ala)
|
|
|
|
NM_001164508.2(NEB):c.10914C>T (p.Gly3638=)
|
|
|
|
NM_001164508.2(NEB):c.10916G>A (p.Trp3639Ter)
|
|
|
|
NM_001164508.2(NEB):c.10932C>T (p.Ser3644=)
|
rs2154016925
|
|
|
NM_001164508.2(NEB):c.10938A>G (p.Glu3646=)
|
|
|
|
NM_001164508.2(NEB):c.10950C>T (p.Ala3650=)
|
|
|
|
NM_001164508.2(NEB):c.10955G>A (p.Arg3652Lys)
|
rs1553908653
|
|
|
NM_001164508.2(NEB):c.10956A>G (p.Arg3652=)
|
|
|
|
NM_001164508.2(NEB):c.10957G>A (p.Ala3653Thr)
|
|
|
|
NM_001164508.2(NEB):c.10972A>G (p.Ser3658Gly)
|
rs2154016610
|
|
|
NM_001164508.2(NEB):c.10974T>C (p.Ser3658=)
|
|
|
|
NM_001164508.2(NEB):c.10976A>G (p.Asp3659Gly)
|
|
|
|
NM_001164508.2(NEB):c.10981A>T (p.Ile3661Phe)
|
|
|
|
NM_001164508.2(NEB):c.10982T>C (p.Ile3661Thr)
|
rs886940194
|
|
|
NM_001164508.2(NEB):c.10987C>T (p.Arg3663Cys)
|
|
|
|
NM_001164508.2(NEB):c.1098T>C (p.Ala366=)
|
rs901213929
|
|
|
NM_001164508.2(NEB):c.10994G>A (p.Arg3665His)
|
|
|
|
NM_001164508.2(NEB):c.11003C>T (p.Thr3668Met)
|
|
|
|
NM_001164508.2(NEB):c.11010dup (p.Phe3671fs)
|
rs2098273867
|
|
|
NM_001164508.2(NEB):c.11016C>G (p.Thr3672=)
|
|
|
|
NM_001164508.2(NEB):c.11016C>T (p.Thr3672=)
|
|
|
|
NM_001164508.2(NEB):c.1101A>G (p.Ser367=)
|
|
|
|
NM_001164508.2(NEB):c.11020A>G (p.Ile3674Val)
|
|
|
|
NM_001164508.2(NEB):c.11022A>G (p.Ile3674Met)
|
|
|
|
NM_001164508.2(NEB):c.11024C>T (p.Thr3675Met)
|
|
|
|
NM_001164508.2(NEB):c.11024dup (p.Asp3676fs)
|
rs1560500587
|
|
|
NM_001164508.2(NEB):c.11028C>T (p.Asp3676=)
|
rs2154015983
|
|
|
NM_001164508.2(NEB):c.11031_11034del (p.Pro3678fs)
|
|
|
|
NM_001164508.2(NEB):c.11032C>G (p.Pro3678Ala)
|
rs879255369
|
|
|
NM_001164508.2(NEB):c.11041G>A (p.Val3681Met)
|
|
|
|
NM_001164508.2(NEB):c.11041G>C (p.Val3681Leu)
|
|
|
|
NM_001164508.2(NEB):c.11043G>A (p.Val3681=)
|
rs886038428
|
|
|
NM_001164508.2(NEB):c.11046G>T (p.Leu3682=)
|
rs2154015826
|
|
|
NM_001164508.2(NEB):c.11054A>G (p.Asn3685Ser)
|
|
|
|
NM_001164508.2(NEB):c.11054dup (p.Asn3685fs)
|
rs1560499498
|
|
|
NM_001164508.2(NEB):c.11076+18del
|
|
|
|
NM_001164508.2(NEB):c.11076+8T>G
|
|
|
|
NM_001164508.2(NEB):c.11077-12T>A
|
|
|
|
NM_001164508.2(NEB):c.11077-13T>C
|
|
|
|
NM_001164508.2(NEB):c.11077-17T>C
|
|
|
|
NM_001164508.2(NEB):c.11077-18_11077-17insC
|
|
|
|
NM_001164508.2(NEB):c.11077-18_11077-17insCTCTC
|
|
|
|
NM_001164508.2(NEB):c.11077-18_11077-17insTC
|
rs1263320307
|
|
|
NM_001164508.2(NEB):c.11077-18_11077-17insTCTC
|
|
|
|
NM_001164508.2(NEB):c.11077-18_11077-17insTCTCTC
|
|
|
|
NM_001164508.2(NEB):c.11077-1G>A
|
rs1458096844
|
|
|
NM_001164508.2(NEB):c.11077-20T>C
|
|
|
|
NM_001164508.2(NEB):c.11077-20_11077-19insCTC
|
rs1553905611
|
|
|
NM_001164508.2(NEB):c.11077-20_11077-19insCTCTCTC
|
|
|
|
NM_001164508.2(NEB):c.11077-21_11077-18del
|
rs751075730
|
|
|
NM_001164508.2(NEB):c.11077-23_11077-18del
|
|
|
|
NM_001164508.2(NEB):c.11077-23_11077-19del
|
|
|
|
NM_001164508.2(NEB):c.11077-35CT[5]
|
|
|
|
NM_001164508.2(NEB):c.11077-35CT[6]
|
|
|
|
NM_001164508.2(NEB):c.11077-35CT[7]
|
rs369065019
|
|
|
NM_001164508.2(NEB):c.11077-35CT[9]
|
rs369065019
|
|
|
NM_001164508.2(NEB):c.11077-6T>C
|
|
|
|
NM_001164508.2(NEB):c.11077-9T>G
|
|
|
|
NM_001164508.2(NEB):c.11086A>G (p.Thr3696Ala)
|
|
|
|
NM_001164508.2(NEB):c.11087C>T (p.Thr3696Ile)
|
|
|
|
NM_001164508.2(NEB):c.11088T>C (p.Thr3696=)
|
|
|
|
NM_001164508.2(NEB):c.1109dup (p.Gln371fs)
|
|
|
|
NM_001164508.2(NEB):c.11103T>C (p.Asn3701=)
|
rs1242008589
|
|
|
NM_001164508.2(NEB):c.11119C>T (p.His3707Tyr)
|
|
|
|
NM_001164508.2(NEB):c.1111C>T (p.Gln371Ter)
|
|
|
|
NM_001164508.2(NEB):c.11124C>G (p.Val3708=)
|
|
|
|
NM_001164508.2(NEB):c.11132A>T (p.Asp3711Val)
|
|
|
|
NM_001164508.2(NEB):c.11147T>C (p.Met3716Thr)
|
rs2098235987
|
|
|
NM_001164508.2(NEB):c.11157A>G (p.Lys3719=)
|
rs2154008369
|
|
|
NM_001164508.2(NEB):c.11164C>G (p.Arg3722Gly)
|
|
|
|
NM_001164508.2(NEB):c.11173T>C (p.Tyr3725His)
|
|
|
|
NM_001164508.2(NEB):c.11175C>T (p.Tyr3725=)
|
|
|
|
NM_001164508.2(NEB):c.11177G>A (p.Ser3726Asn)
|
|
|
|
NM_001164508.2(NEB):c.1117A>C (p.Arg373=)
|
rs778295273
|
|
|
NM_001164508.2(NEB):c.11181+13T>C
|
|
|
|
NM_001164508.2(NEB):c.11181+14T>C
|
|
|
|
NM_001164508.2(NEB):c.11181+16A>C
|
|
|
|
NM_001164508.2(NEB):c.11181+16A>T
|
|
|
|
NM_001164508.2(NEB):c.11181+9A>G
|
|
|
|
NM_001164508.2(NEB):c.11182-12T>C
|
|
|
|
NM_001164508.2(NEB):c.11182-16A>C
|
|
|
|
NM_001164508.2(NEB):c.11182-18T>C
|
|
|
|
NM_001164508.2(NEB):c.11182-20A>G
|
|
|
|
NM_001164508.2(NEB):c.11182-4A>G
|
rs2154001899
|
|
|
NM_001164508.2(NEB):c.11182-7T>C
|
|
|
|
NM_001164508.2(NEB):c.11187C>G (p.Leu3729=)
|
rs2154001878
|
|
|
NM_001164508.2(NEB):c.11188T>A (p.Tyr3730Asn)
|
|
|
|
NM_001164508.2(NEB):c.11207A>T (p.Glu3736Val)
|
|
|
|
NM_001164508.2(NEB):c.1121A>G (p.Gln374Arg)
|
|
|
|
NM_001164508.2(NEB):c.11229C>T (p.Asp3743=)
|
rs2154001798
|
|
|
NM_001164508.2(NEB):c.11234G>A (p.Arg3745His)
|
|
|
|
NM_001164508.2(NEB):c.11239G>T (p.Asp3747Tyr)
|
|
|
|
NM_001164508.2(NEB):c.11248C>T (p.Pro3750Ser)
|
|
|
|
NM_001164508.2(NEB):c.11249C>A (p.Pro3750Gln)
|
rs2098183275
|
|
|
NM_001164508.2(NEB):c.11250A>G (p.Pro3750=)
|
|
|
|
NM_001164508.2(NEB):c.11253C>G (p.Ile3751Met)
|
|
|
|
NM_001164508.2(NEB):c.11288A>G (p.Asp3763Gly)
|
|
|
|
NM_001164508.2(NEB):c.11289+15del
|
|
|
|
NM_001164508.2(NEB):c.11289+7G>A
|
|
|
|
NM_001164508.2(NEB):c.11289+8G>C
|
rs772575722
|
|
|
NM_001164508.2(NEB):c.11289+8del
|
rs2154001568
|
|
|
NM_001164508.2(NEB):c.11289+9A>G
|
|
|
|
NM_001164508.2(NEB):c.11289+9A>T
|
rs758976471
|
|
|
NM_001164508.2(NEB):c.11289delT (p.Tyr3764fs)
|
|
|
|
NM_001164508.2(NEB):c.11290-10A>G
|
|
|
|
NM_001164508.2(NEB):c.11290-10A>T
|
rs1560452173
|
|
|
NM_001164508.2(NEB):c.11290-11dup
|
|
|
|
NM_001164508.2(NEB):c.11290-12C>T
|
|
|
|
NM_001164508.2(NEB):c.11290-14C>A
|
|
|
|
NM_001164508.2(NEB):c.11290-3del
|
rs1469187168
|
|
|
NM_001164508.2(NEB):c.11290-3dup
|
rs1469187168
|
|
|
NM_001164508.2(NEB):c.11290-7T>G
|
rs2153993308
|
|
|
NM_001164508.2(NEB):c.11290-9T>A
|
|
|
|
NM_001164508.2(NEB):c.11295G>A (p.Lys3765=)
|
|
|
|
NM_001164508.2(NEB):c.11298C>T (p.Tyr3766=)
|
rs376120080
|
|
|
NM_001164508.2(NEB):c.112A>C (p.Arg38=)
|
rs2150924938
|
|
|
NM_001164508.2(NEB):c.11312G>T (p.Arg3771Leu)
|
rs374486286
|
|
|
NM_001164508.2(NEB):c.11324G>A (p.Gly3775Asp)
|
|
|
|
NM_001164508.2(NEB):c.11337G>A (p.Gly3779=)
|
|
|
|
NM_001164508.2(NEB):c.11339C>A (p.Ala3780Asp)
|
|
|
|
NM_001164508.2(NEB):c.11340C>A (p.Ala3780=)
|
|
|
|
NM_001164508.2(NEB):c.11342G>A (p.Arg3781Gln)
|
|
|
|
NM_001164508.2(NEB):c.11346C>T (p.Asn3782=)
|
|
|
|
NM_001164508.2(NEB):c.1134A>G (p.Ala378=)
|
|
|
|
NM_001164508.2(NEB):c.11352G>A (p.Lys3784=)
|
|
|
|
NM_001164508.2(NEB):c.11360C>G (p.Pro3787Arg)
|
|
|
|
NM_001164508.2(NEB):c.11360C>T (p.Pro3787Leu)
|
|
|
|
NM_001164508.2(NEB):c.11361G>C (p.Pro3787=)
|
|
|
|
NM_001164508.2(NEB):c.11364G>A (p.Lys3788=)
|
rs2153992902
|
|
|
NM_001164508.2(NEB):c.11367G>T (p.Met3789Ile)
|
rs1256861153
|
|
|
NM_001164508.2(NEB):c.11371T>C (p.Trp3791Arg)
|
rs2098127092
|
|
|
NM_001164508.2(NEB):c.11379C>A (p.Ile3793=)
|
rs1437152444
|
|
|
NM_001164508.2(NEB):c.11382T>C (p.His3794=)
|
|
|
|
NM_001164508.2(NEB):c.11388C>A (p.Ala3796=)
|
rs2153992756
|
|
|
NM_001164508.2(NEB):c.11403C>G (p.Asp3801Glu)
|
|
|
|
NM_001164508.2(NEB):c.11404A>C (p.Arg3802=)
|
rs2153992690
|
|
|
NM_001164508.2(NEB):c.11408del (p.Glu3803fs)
|
|
|
|
NM_001164508.2(NEB):c.11412C>G (p.Tyr3804Ter)
|
|
|
|
NM_001164508.2(NEB):c.11415G>A (p.Lys3805=)
|
rs1380185381
|
|
|
NM_001164508.2(NEB):c.11417A>G (p.Lys3806Arg)
|
rs2098126289
|
|
|
NM_001164508.2(NEB):c.11425G>T (p.Glu3809Ter)
|
rs2098126010
|
|
|
NM_001164508.2(NEB):c.11430G>A (p.Lys3810=)
|
rs764934509
|
|
|
NM_001164508.2(NEB):c.11432G>A (p.Trp3811Ter)
|
|
|
|
NM_001164508.2(NEB):c.11440A>G (p.Lys3814Glu)
|
rs1553897365
|
|
|
NM_001164508.2(NEB):c.11441A>G (p.Lys3814Arg)
|
|
|
|
NM_001164508.2(NEB):c.11448C>T (p.Ser3816=)
|
rs2153992397
|
|
|
NM_001164508.2(NEB):c.1144C>T (p.Leu382=)
|
|
|
|
NM_001164508.2(NEB):c.11450G>A (p.Ser3817Asn)
|
rs776337697
|
|
|
NM_001164508.2(NEB):c.11459A>T (p.Asp3820Val)
|
rs1008059245
|
|
|
NM_001164508.2(NEB):c.11461A>T (p.Met3821Leu)
|
rs1057524782
|
|
|
NM_001164508.2(NEB):c.11467G>C (p.Gly3823Arg)
|
rs1489953672
|
|
|
NM_001164508.2(NEB):c.1146A>G (p.Leu382=)
|
|
|
|
NM_001164508.2(NEB):c.11473del (p.Val3825fs)
|
rs2153992255
|
|
|
NM_001164508.2(NEB):c.11496C>T (p.Ile3832=)
|
|
|
|
NM_001164508.2(NEB):c.11498T>C (p.Leu3833Pro)
|
rs2098124760
|
|
|
NM_001164508.2(NEB):c.1149T>C (p.Ser383=)
|
|
|
|
NM_001164508.2(NEB):c.11505C>T (p.Ser3835=)
|
rs889698238
|
|
|
NM_001164508.2(NEB):c.11511A>C (p.Ile3837=)
|
|
|
|
NM_001164508.2(NEB):c.11515T>C (p.Tyr3839His)
|
|
|
|
NM_001164508.2(NEB):c.11516A>G (p.Tyr3839Cys)
|
|
|
|
NM_001164508.2(NEB):c.1152+15G>A
|
|
|
|
NM_001164508.2(NEB):c.1152+15G>C
|
|
|
|
NM_001164508.2(NEB):c.1152+18A>C
|
|
|
|
NM_001164508.2(NEB):c.1152+19_1152+20del
|
|
|
|
NM_001164508.2(NEB):c.1152+1G>C
|
rs398124167
|
|
|
NM_001164508.2(NEB):c.1152+1G>T
|
rs398124167
|
|
|
NM_001164508.2(NEB):c.1152+20A>G
|
|
|
|
NM_001164508.2(NEB):c.1152+6T>C
|
|
|
|
NM_001164508.2(NEB):c.1152+9A>T
|
rs2099708834
|
|
|
NM_001164508.2(NEB):c.11520G>A (p.Lys3840=)
|
rs781232760
|
|
|
NM_001164508.2(NEB):c.1153-10del
|
rs776691267
|
|
|
NM_001164508.2(NEB):c.1153-10dup
|
rs776691267
|
|
|
NM_001164508.2(NEB):c.1153-12T>G
|
|
|
|
NM_001164508.2(NEB):c.1153-14T>G
|
|
|
|
NM_001164508.2(NEB):c.1153-17T>C
|
|
|
|
NM_001164508.2(NEB):c.1153-18A>G
|
|
|
|
NM_001164508.2(NEB):c.1153-18A>T
|
|
|
|
NM_001164508.2(NEB):c.1153-2A>T
|
rs1553609515
|
|
|
NM_001164508.2(NEB):c.1153-5G>T
|
rs747738880
|
|
|
NM_001164508.2(NEB):c.1153-7T>G
|
|
|
|
NM_001164508.2(NEB):c.11533G>T (p.Glu3845Ter)
|
rs755390933
|
|
|
NM_001164508.2(NEB):c.11535A>G (p.Glu3845=)
|
|
|
|
NM_001164508.2(NEB):c.11544C>T (p.Cys3848=)
|
|
|
|
NM_001164508.2(NEB):c.11550T>A (p.Pro3850=)
|
|
|
|
NM_001164508.2(NEB):c.11563G>A (p.Val3855Ile)
|
rs542092706
|
|
|
NM_001164508.2(NEB):c.11565C>A (p.Val3855=)
|
rs763599894
|
|
|
NM_001164508.2(NEB):c.11568T>C (p.Ile3856=)
|
|
|
|
NM_001164508.2(NEB):c.1157del (p.Leu386fs)
|
rs2149368742
|
|
|
NM_001164508.2(NEB):c.11581G>A (p.Ala3861Thr)
|
|
|
|
NM_001164508.2(NEB):c.11584_11587dup (p.Asp3863delinsValTer)
|
rs2153991555
|
|
|
NM_001164508.2(NEB):c.11585A>G (p.Tyr3862Cys)
|
|
|
|
NM_001164508.2(NEB):c.11585_11586delinsC (p.Tyr3862fs)
|
rs1553896522
|
|
|
NM_001164508.2(NEB):c.11586T>C (p.Tyr3862=)
|
rs2153991564
|
|
|
NM_001164508.2(NEB):c.1158A>C (p.Leu386=)
|
rs1347524577
|
|
|
NM_001164508.2(NEB):c.1158A>G (p.Leu386=)
|
rs1347524577
|
|
|
NM_001164508.2(NEB):c.1158A>T (p.Leu386=)
|
rs1347524577
|
|
|
NM_001164508.2(NEB):c.11601+11C>T
|
|
|
|
NM_001164508.2(NEB):c.11601+12T>C
|
|
|
|
NM_001164508.2(NEB):c.11601+19C>A
|
rs1438598403
|
|
|
NM_001164508.2(NEB):c.11602-13A>T
|
rs886054941
|
|
|
NM_001164508.2(NEB):c.11602-14T>A
|
|
|
|
NM_001164508.2(NEB):c.11602-9C>A
|
rs1403276683
|
|
|
NM_001164508.2(NEB):c.11602-9C>T
|
|
|
|
NM_001164508.2(NEB):c.11606T>C (p.Ile3869Thr)
|
|
|
|
NM_001164508.2(NEB):c.11610C>A (p.Tyr3870Ter)
|
rs2098013896
|
|
|
NM_001164508.2(NEB):c.11612A>C (p.Lys3871Thr)
|
|
|
|
NM_001164508.2(NEB):c.11612A>T (p.Lys3871Ile)
|
|
|
|
NM_001164508.2(NEB):c.11613del (p.Lys3871fs)
|
rs2098013713
|
|
|
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter)
|
rs1259297878
|
|
|
NM_001164508.2(NEB):c.1161C>T (p.Tyr387=)
|
rs1259297878
|
|
|
NM_001164508.2(NEB):c.11621T>C (p.Leu3874Pro)
|
rs1131691534
|
|
|
NM_001164508.2(NEB):c.11629C>T (p.Leu3877=)
|
rs2153983329
|
|
|
NM_001164508.2(NEB):c.1162A>G (p.Lys388Glu)
|
rs1159204491
|
|
|
NM_001164508.2(NEB):c.11636G>A (p.Gly3879Asp)
|
rs199766288
|
|
|
NM_001164508.2(NEB):c.11636G>T (p.Gly3879Val)
|
|
|
|
NM_001164508.2(NEB):c.11640A>T (p.Ile3880=)
|
rs2098012297
|
|
|
NM_001164508.2(NEB):c.1164G>A (p.Lys388=)
|
|
|
|
NM_001164508.2(NEB):c.11652C>T (p.Pro3884=)
|
rs747207078
|
|
|
NM_001164508.2(NEB):c.11654T>A (p.Ile3885Asn)
|
rs1367960856
|
|
|
NM_001164508.2(NEB):c.11664A>G (p.Val3888=)
|
rs2098011552
|
|
|
NM_001164508.2(NEB):c.11666del (p.Glu3889fs)
|
|
|
|
NM_001164508.2(NEB):c.11668G>T (p.Val3890Phe)
|
|
|
|
NM_001164508.2(NEB):c.11670C>A (p.Val3890=)
|
|
|
|
NM_001164508.2(NEB):c.11670C>G (p.Val3890=)
|
rs757703477
|
|
|
NM_001164508.2(NEB):c.11679G>A (p.Val3893=)
|
|
|
|
NM_001164508.2(NEB):c.11683A>C (p.Arg3895=)
|
|
|
|
NM_001164508.2(NEB):c.11686G>C (p.Ala3896Pro)
|
|
|
|
NM_001164508.2(NEB):c.11690G>A (p.Gly3897Glu)
|
rs777129630
|
|
|
NM_001164508.2(NEB):c.1169A>G (p.Asn390Ser)
|
|
|
|
NM_001164508.2(NEB):c.11708G>A (p.Arg3903Lys)
|
rs2098010006
|
|
|
NM_001164508.2(NEB):c.1170C>G (p.Asn390Lys)
|
|
|
|
NM_001164508.2(NEB):c.1170C>T (p.Asn390=)
|
rs751470649
|
|
|
NM_001164508.2(NEB):c.11718C>T (p.Arg3906=)
|
rs766404193
|
|
|
NM_001164508.2(NEB):c.11724T>C (p.Pro3908=)
|
rs2153983044
|
|
|
NM_001164508.2(NEB):c.11730C>G (p.Asp3910Glu)
|
|
|
|
NM_001164508.2(NEB):c.11731C>T (p.Gln3911Ter)
|
|
|
|
NM_001164508.2(NEB):c.1173T>A (p.Tyr391Ter)
|
|
|
|
NM_001164508.2(NEB):c.1173T>C (p.Tyr391=)
|
rs766385695
|
|
|
NM_001164508.2(NEB):c.11745A>G (p.Thr3915=)
|
rs1342761496
|
|
|
NM_001164508.2(NEB):c.11748C>T (p.Cys3916=)
|
rs1436399522
|
|
|
NM_001164508.2(NEB):c.11752A>G (p.Thr3918Ala)
|
|
|
|
NM_001164508.2(NEB):c.11754C>G (p.Thr3918=)
|
|
|
|
NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn)
|
rs201483656
|
|
|
NM_001164508.2(NEB):c.11755G>C (p.Asp3919His)
|
|
|
|
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr)
|
rs201483656
|
|
|
NM_001164508.2(NEB):c.11756A>G (p.Asp3919Gly)
|
rs2098007899
|
|
|
NM_001164508.2(NEB):c.11760T>C (p.Thr3920=)
|
|
|
|
NM_001164508.2(NEB):c.11763G>T (p.Pro3921=)
|
rs554366790
|
|
|
NM_001164508.2(NEB):c.11778A>C (p.Ala3926=)
|
|
|
|
NM_001164508.2(NEB):c.11778A>G (p.Ala3926=)
|
|
|
|
NM_001164508.2(NEB):c.11781G>A (p.Lys3927=)
|
|
|
|
NM_001164508.2(NEB):c.11793G>A (p.Leu3931=)
|
|
|
|
NM_001164508.2(NEB):c.11796A>G (p.Thr3932=)
|
|
|
|
NM_001164508.2(NEB):c.11805+11del
|
|
|
|
NM_001164508.2(NEB):c.11805+14T>C
|
|
|
|
NM_001164508.2(NEB):c.11805+17T>C
|
|
|
|
NM_001164508.2(NEB):c.11805+1G>A
|
|
|
|
NM_001164508.2(NEB):c.11805+7C>G
|
rs2153982791
|
|
|
NM_001164508.2(NEB):c.11805+8T>C
|
|
|
|
NM_001164508.2(NEB):c.11805+9C>G
|
|
|
|
NM_001164508.2(NEB):c.11806-14G>A
|
|
|
|
NM_001164508.2(NEB):c.11806-15C>T
|
|
|
|
NM_001164508.2(NEB):c.11806-15_11806-14insTGCCCCG
|
|
|
|
NM_001164508.2(NEB):c.11806-19A>G
|
|
|
|
NM_001164508.2(NEB):c.11806-1G>A
|
rs886041851
|
|
|
NM_001164508.2(NEB):c.11806-7C>T
|
|
|
|
NM_001164508.2(NEB):c.11806-8C>T
|
rs1313143934
|
|
|
NM_001164508.2(NEB):c.11806-9G>A
|
|
|
|
NM_001164508.2(NEB):c.11806-9G>T
|
|
|
|
NM_001164508.2(NEB):c.11808T>C (p.His3936=)
|
rs2153976184
|
|
|
NM_001164508.2(NEB):c.1182A>G (p.Thr394=)
|
rs186233985
|
|
|
NM_001164508.2(NEB):c.1182A>T (p.Thr394=)
|
|
|
|
NM_001164508.2(NEB):c.11835C>T (p.Asp3945=)
|
rs2153976072
|
|
|
NM_001164508.2(NEB):c.11836A>G (p.Lys3946Glu)
|
|
|
|
NM_001164508.2(NEB):c.1184_1185dup (p.Ala396fs)
|
rs2149367866
|
|
|
NM_001164508.2(NEB):c.11865C>T (p.Thr3955=)
|
rs2153975940
|
|
|
NM_001164508.2(NEB):c.11873T>C (p.Ile3958Thr)
|
|
|
|
NM_001164508.2(NEB):c.11877G>T (p.Leu3959=)
|
|
|
|
NM_001164508.2(NEB):c.11880G>A (p.Leu3960=)
|
rs2153975908
|
|
|
NM_001164508.2(NEB):c.11889T>C (p.Ser3963=)
|
|
|
|
NM_001164508.2(NEB):c.11890A>G (p.Asn3964Asp)
|
|
|
|
NM_001164508.2(NEB):c.11891A>T (p.Asn3964Ile)
|
rs1560398552
|
|
|
NM_001164508.2(NEB):c.11902A>G (p.Ile3968Val)
|
|
|
|
NM_001164508.2(NEB):c.11904C>A (p.Ile3968=)
|
rs2153975760
|
|
|
NM_001164508.2(NEB):c.11907C>T (p.Ser3969=)
|
|
|
|
NM_001164508.2(NEB):c.11910+10T>G
|
rs2153975689
|
|
|
NM_001164508.2(NEB):c.11910+3A>G
|
rs2097920067
|
|
|
NM_001164508.2(NEB):c.11910+7G>T
|
rs1424646372
|
|
|
NM_001164508.2(NEB):c.11911-10C>G
|
rs1267248176
|
|
|
NM_001164508.2(NEB):c.11911-12T>G
|
rs2153974946
|
|
|
NM_001164508.2(NEB):c.11911-16A>G
|
|
|
|
NM_001164508.2(NEB):c.11911-4C>T
|
|
|
|
NM_001164508.2(NEB):c.11911-6C>T
|
|
|
|
NM_001164508.2(NEB):c.11911A>G (p.Lys3971Glu)
|
rs762228870
|
|
|
NM_001164508.2(NEB):c.11928A>G (p.Gly3976=)
|
|
|
|
NM_001164508.2(NEB):c.11932G>T (p.Asp3978Tyr)
|
rs2097912400
|
|
|
NM_001164508.2(NEB):c.11937A>G (p.Glu3979=)
|
|
|
|
NM_001164508.2(NEB):c.1193G>A (p.Ser398Asn)
|
|
|
|
NM_001164508.2(NEB):c.11943G>A (p.Lys3981=)
|
rs1258501445
|
|
|
NM_001164508.2(NEB):c.11949G>A (p.Lys3983=)
|
|
|
|
NM_001164508.2(NEB):c.11949G>T (p.Lys3983Asn)
|
|
|
|
NM_001164508.2(NEB):c.11949_11957dup (p.Tyr3985_Asp3986insGluAspTyr)
|
rs753048510
|
|
|
NM_001164508.2(NEB):c.11967A>G (p.Ala3989=)
|
rs770739649
|
|
|
NM_001164508.2(NEB):c.11974A>T (p.Ile3992Phe)
|
|
|
|
NM_001164508.2(NEB):c.11976T>C (p.Ile3992=)
|
|
|
|
NM_001164508.2(NEB):c.11977T>C (p.Ser3993Pro)
|
rs2153974640
|
|
|
NM_001164508.2(NEB):c.11980A>G (p.Ile3994Val)
|
rs751650751
|
|
|
NM_001164508.2(NEB):c.11982C>A (p.Ile3994=)
|
rs780157705
|
|
|
NM_001164508.2(NEB):c.11991C>A (p.Ala3997=)
|
rs2153974584
|
|
|
NM_001164508.2(NEB):c.11991C>G (p.Ala3997=)
|
rs2153974584
|
|
|
NM_001164508.2(NEB):c.11991C>T (p.Ala3997=)
|
|
|
|
NM_001164508.2(NEB):c.12009C>A (p.Ile4003=)
|
rs1238384293
|
|
|
NM_001164508.2(NEB):c.12009C>T (p.Ile4003=)
|
rs1238384293
|
|
|
NM_001164508.2(NEB):c.12010G>C (p.Ala4004Pro)
|
|
|
|
NM_001164508.2(NEB):c.12013A>T (p.Ser4005Cys)
|
|
|
|
NM_001164508.2(NEB):c.12018+11T>G
|
|
|
|
NM_001164508.2(NEB):c.12018+14A>G
|
|
|
|
NM_001164508.2(NEB):c.12018+14A>T
|
|
|
|
NM_001164508.2(NEB):c.12018+16C>T
|
|
|
|
NM_001164508.2(NEB):c.12018C>T (p.Asp4006=)
|
|
|
|
NM_001164508.2(NEB):c.12019-2A>G
|
|
|
|
NM_001164508.2(NEB):c.12019-9G>A
|
|
|
|
NM_001164508.2(NEB):c.12020A>C (p.Tyr4007Ser)
|
rs758528247
|
|
|
NM_001164508.2(NEB):c.12020A>G (p.Tyr4007Cys)
|
rs758528247
|
|
|
NM_001164508.2(NEB):c.12030G>A (p.Lys4010=)
|
rs1335298784
|
|
|
NM_001164508.2(NEB):c.1203C>T (p.Tyr401=)
|
rs767796251
|
|
|
NM_001164508.2(NEB):c.12041A>G (p.Glu4014Gly)
|
rs2153972362
|
|
|
NM_001164508.2(NEB):c.1204T>G (p.Cys402Gly)
|
|
|
|
NM_001164508.2(NEB):c.12069C>A (p.Ala4023=)
|
|
|
|
NM_001164508.2(NEB):c.12072G>T (p.Gln4024His)
|
|
|
|
NM_001164508.2(NEB):c.12074del (p.Ser4025fs)
|
rs2153972237
|
|
|
NM_001164508.2(NEB):c.12075C>T (p.Ser4025=)
|
rs2153972217
|
|
|
NM_001164508.2(NEB):c.12078T>C (p.Ile4026=)
|
rs1367511738
|
|
|
NM_001164508.2(NEB):c.12080A>G (p.Glu4027Gly)
|
rs1188050770
|
|
|
NM_001164508.2(NEB):c.12081A>G (p.Glu4027=)
|
|
|
|
NM_001164508.2(NEB):c.12082G>A (p.Asp4028Asn)
|
rs2153972179
|
|
|
NM_001164508.2(NEB):c.12090C>G (p.Pro4030=)
|
|
|
|
NM_001164508.2(NEB):c.1209G>T (p.Glu403Asp)
|
rs1576715880
|
|
|
NM_001164508.2(NEB):c.12100T>A (p.Cys4034Ser)
|
rs973939120
|
|
|
NM_001164508.2(NEB):c.12111T>C (p.His4037=)
|
|
|
|
NM_001164508.2(NEB):c.12126A>G (p.Gln4042=)
|
|
|
|
NM_001164508.2(NEB):c.1212C>T (p.Thr404=)
|
|
|
|
NM_001164508.2(NEB):c.12137A>G (p.Glu4046Gly)
|
|
|
|
NM_001164508.2(NEB):c.12144G>A (p.Lys4048=)
|
rs576457241
|
|
|
NM_001164508.2(NEB):c.12150A>G (p.Glu4050=)
|
|
|
|
NM_001164508.2(NEB):c.12151T>C (p.Phe4051Leu)
|
|
|
|
NM_001164508.2(NEB):c.12153C>T (p.Phe4051=)
|
|
|
|
NM_001164508.2(NEB):c.12158A>C (p.Lys4053Thr)
|
|
|
|
NM_001164508.2(NEB):c.1215dup (p.Lys406fs)
|
|
|
|
NM_001164508.2(NEB):c.12160del (p.Trp4054fs)
|
rs1319778592
|
|
|
NM_001164508.2(NEB):c.12162G>A (p.Trp4054Ter)
|
|
|
|
NM_001164508.2(NEB):c.12166del (p.Thr4056fs)
|
|
|
|
NM_001164508.2(NEB):c.12168C>T (p.Thr4056=)
|
|
|
|
NM_001164508.2(NEB):c.12180C>T (p.Ser4060=)
|
rs2097886989
|
|
|
NM_001164508.2(NEB):c.12182del (p.Pro4061fs)
|
rs2097886912
|
|
|
NM_001164508.2(NEB):c.12185T>C (p.Val4062Ala)
|
|
|
|
NM_001164508.2(NEB):c.12186G>A (p.Val4062=)
|
|
|
|
NM_001164508.2(NEB):c.12193T>C (p.Leu4065=)
|
rs768643787
|
|
|
NM_001164508.2(NEB):c.12205C>T (p.Leu4069=)
|
|
|
|
NM_001164508.2(NEB):c.12206T>C (p.Leu4069Pro)
|
|
|
|
NM_001164508.2(NEB):c.12218G>A (p.Cys4073Tyr)
|
|
|
|
NM_001164508.2(NEB):c.12218G>C (p.Cys4073Ser)
|
rs1316221324
|
|
|
NM_001164508.2(NEB):c.12220C>T (p.Gln4074Ter)
|
|
|
|
NM_001164508.2(NEB):c.12221A>T (p.Gln4074Leu)
|
rs1257852959
|
|
|
NM_001164508.2(NEB):c.12244T>C (p.Tyr4082His)
|
|
|
|
NM_001164508.2(NEB):c.12251A>G (p.Asn4084Ser)
|
rs761668198
|
|
|
NM_001164508.2(NEB):c.12252T>C (p.Asn4084=)
|
rs2153971513
|
|
|
NM_001164508.2(NEB):c.12258G>A (p.Leu4086=)
|
|
|
|
NM_001164508.2(NEB):c.12258G>T (p.Leu4086=)
|
rs371771414
|
|
|
NM_001164508.2(NEB):c.12261T>C (p.His4087=)
|
|
|
|
NM_001164508.2(NEB):c.12262G>C (p.Glu4088Gln)
|
|
|
|
NM_001164508.2(NEB):c.12270A>T (p.Thr4090=)
|
rs1247368291
|
|
|
NM_001164508.2(NEB):c.12273C>T (p.Cys4091=)
|
|
|
|
NM_001164508.2(NEB):c.12274A>G (p.Met4092Val)
|
|
|
|
NM_001164508.2(NEB):c.12275T>G (p.Met4092Arg)
|
|
|
|
NM_001164508.2(NEB):c.12278C>G (p.Pro4093Arg)
|
rs749270501
|
|
|
NM_001164508.2(NEB):c.12278dup (p.Asp4094fs)
|
|
|
|
NM_001164508.2(NEB):c.12279G>C (p.Pro4093=)
|
rs367638234
|
|
|
NM_001164508.2(NEB):c.12279G>T (p.Pro4093=)
|
|
|
|
NM_001164508.2(NEB):c.1227C>G (p.Leu409=)
|
rs371658494
|
|
|
NM_001164508.2(NEB):c.12288C>A (p.Asn4096Lys)
|
rs755521679
|
|
|
NM_001164508.2(NEB):c.12291C>T (p.Asp4097=)
|
rs1303536974
|
|
|
NM_001164508.2(NEB):c.12297C>G (p.Ile4099Met)
|
rs1442726188
|
|
|
NM_001164508.2(NEB):c.1229A>C (p.Asp410Ala)
|
rs1576715183
|
|
|
NM_001164508.2(NEB):c.12304A>C (p.Lys4102Gln)
|
rs2153971169
|
|
|
NM_001164508.2(NEB):c.12310G>A (p.Ala4104Thr)
|
|
|
|
NM_001164508.2(NEB):c.12311C>T (p.Ala4104Val)
|
|
|
|
NM_001164508.2(NEB):c.12312C>G (p.Ala4104=)
|
|
|
|
NM_001164508.2(NEB):c.12314A>G (p.Tyr4105Cys)
|
|
|
|
NM_001164508.2(NEB):c.1231A>T (p.Thr411Ser)
|
rs2099605512
|
|
|
NM_001164508.2(NEB):c.12321G>A (p.Leu4107=)
|
|
|
|
NM_001164508.2(NEB):c.12326G>C (p.Ser4109Thr)
|
|
|
|
NM_001164508.2(NEB):c.12330+15T>G
|
|
|
|
NM_001164508.2(NEB):c.12330+19G>T
|
|
|
|
NM_001164508.2(NEB):c.12330+1G>A
|
rs1350840483
|
|
|
NM_001164508.2(NEB):c.12330+20G>A
|
|
|
|
NM_001164508.2(NEB):c.12330+5G>A
|
rs763163879
|
|
|
NM_001164508.2(NEB):c.12330+9C>A
|
|
|
|
NM_001164508.2(NEB):c.12331-12del
|
|
|
|
NM_001164508.2(NEB):c.12331-13A>G
|
|
|
|
NM_001164508.2(NEB):c.12331-15A>G
|
rs1193626196
|
|
|
NM_001164508.2(NEB):c.12331-17T>C
|
|
|
|
NM_001164508.2(NEB):c.12331-19T>A
|
|
|
|
NM_001164508.2(NEB):c.12331-1G>A
|
rs2097775442
|
|
|
NM_001164508.2(NEB):c.12331-20G>A
|
|
|
|
NM_001164508.2(NEB):c.12331-20G>T
|
|
|
|
NM_001164508.2(NEB):c.12331-4A>G
|
rs2153961014
|
|
|
NM_001164508.2(NEB):c.12331-4A>T
|
rs2153961014
|
|
|
NM_001164508.2(NEB):c.12331-7T>C
|
|
|
|
NM_001164508.2(NEB):c.12331-8_12331-6del
|
rs1467597707
|
|
|
NM_001164508.2(NEB):c.12331-9del
|
|
|
|
NM_001164508.2(NEB):c.12339T>C (p.Tyr4113=)
|
|
|
|
NM_001164508.2(NEB):c.1233T>A (p.Thr411=)
|
rs1241731133
|
|
|
NM_001164508.2(NEB):c.12342G>A (p.Lys4114=)
|
rs1215819197
|
|
|
NM_001164508.2(NEB):c.12345A>G (p.Ala4115=)
|
|
|
|
NM_001164508.2(NEB):c.12348C>T (p.Asp4116=)
|
rs2153960868
|
|
|
NM_001164508.2(NEB):c.12349C>T (p.Leu4117=)
|
rs2153960843
|
|
|
NM_001164508.2(NEB):c.12351G>A (p.Leu4117=)
|
|
|
|
NM_001164508.2(NEB):c.12354G>A (p.Glu4118=)
|
rs2153960806
|
|
|
NM_001164508.2(NEB):c.12356G>A (p.Trp4119Ter)
|
rs2153960793
|
|
|
NM_001164508.2(NEB):c.12358C>T (p.Leu4120=)
|
rs1579062340
|
|
|
NM_001164508.2(NEB):c.12360G>A (p.Leu4120=)
|
|
|
|
NM_001164508.2(NEB):c.12360G>T (p.Leu4120=)
|
rs2153960754
|
|
|
NM_001164508.2(NEB):c.12366C>T (p.Gly4122=)
|
|
|
|
NM_001164508.2(NEB):c.12369C>G (p.Ile4123Met)
|
rs1277282343
|
|
|
NM_001164508.2(NEB):c.12369C>T (p.Ile4123=)
|
rs1277282343
|
|
|
NM_001164508.2(NEB):c.12370G>A (p.Gly4124Ser)
|
rs1227592399
|
|
|
NM_001164508.2(NEB):c.12372C>A (p.Gly4124=)
|
|
|
|
NM_001164508.2(NEB):c.12374G>A (p.Trp4125Ter)
|
rs2153960638
|
|
|
NM_001164508.2(NEB):c.12375del (p.Gly4124_Trp4125insTer)
|
|
|
|
NM_001164508.2(NEB):c.1237C>T (p.Leu413=)
|
|
|
|
NM_001164508.2(NEB):c.12381A>G (p.Pro4127=)
|
|
|
|
NM_001164508.2(NEB):c.12382G>A (p.Glu4128Lys)
|
rs1553877949
|
|
|
NM_001164508.2(NEB):c.12390A>G (p.Ser4130=)
|
rs2153960575
|
|
|
NM_001164508.2(NEB):c.12394G>T (p.Glu4132Ter)
|
rs2153960539
|
|
|
NM_001164508.2(NEB):c.12395A>G (p.Glu4132Gly)
|
rs1553877904
|
|
|
NM_001164508.2(NEB):c.1239G>A (p.Leu413=)
|
|
|
|
NM_001164508.2(NEB):c.123C>T (p.Asp41=)
|
|
|
|
NM_001164508.2(NEB):c.12402C>T (p.Asn4134=)
|
|
|
|
NM_001164508.2(NEB):c.12402_12403del (p.Asn4134fs)
|
rs2153960473
|
|
|
NM_001164508.2(NEB):c.12405A>G (p.Arg4135=)
|
|
|
|
NM_001164508.2(NEB):c.12406G>A (p.Val4136Met)
|
rs1553877868
|
|
|
NM_001164508.2(NEB):c.12407T>G (p.Val4136Gly)
|
rs1553877860
|
|
|
NM_001164508.2(NEB):c.12411G>A (p.Lys4137=)
|
rs2153960385
|
|
|
NM_001164508.2(NEB):c.12413T>G (p.Val4138Gly)
|
rs1553877811
|
|
|
NM_001164508.2(NEB):c.12423C>T (p.Asp4141=)
|
|
|
|
NM_001164508.2(NEB):c.12426C>G (p.Leu4142=)
|
|
|
|
NM_001164508.2(NEB):c.12426C>T (p.Leu4142=)
|
rs1320574868
|
|
|
NM_001164508.2(NEB):c.12432T>C (p.Asn4144=)
|
rs2153960200
|
|
|
NM_001164508.2(NEB):c.12433G>T (p.Glu4145Ter)
|
rs2097773972
|
|
|
NM_001164508.2(NEB):c.12435A>G (p.Glu4145=)
|
rs2153960156
|
|
|
NM_001164508.2(NEB):c.12438A>G (p.Arg4146=)
|
rs2097773804
|
|
|
NM_001164508.2(NEB):c.12438del (p.Arg4146fs)
|
rs2153960110
|
|
|
NM_001164508.2(NEB):c.12441C>A (p.Leu4147=)
|
|
|
|
NM_001164508.2(NEB):c.12441C>T (p.Leu4147=)
|
|
|
|
NM_001164508.2(NEB):c.12441_12442del (p.Leu4147_Tyr4148insTer)
|
rs2153960091
|
|
|
NM_001164508.2(NEB):c.12443A>G (p.Tyr4148Cys)
|
rs1553877721
|
|
|
NM_001164508.2(NEB):c.12444T>C (p.Tyr4148=)
|
rs1398108498
|
|
|
NM_001164508.2(NEB):c.12445A>C (p.Arg4149=)
|
|
|
|
NM_001164508.2(NEB):c.12447del (p.Thr4150fs)
|
|
|
|
NM_001164508.2(NEB):c.12450A>G (p.Thr4150=)
|
rs2153960019
|
|
|
NM_001164508.2(NEB):c.12453T>A (p.Arg4151=)
|
|
|
|
NM_001164508.2(NEB):c.12453T>C (p.Arg4151=)
|
rs2153959989
|
|
|
NM_001164508.2(NEB):c.12456A>G (p.Pro4152=)
|
rs1289572507
|
|
|
NM_001164508.2(NEB):c.12457G>T (p.Glu4153Ter)
|
rs2097773424
|
|
|
NM_001164508.2(NEB):c.1245C>T (p.Asn415=)
|
rs1576714614
|
|
|
NM_001164508.2(NEB):c.12462T>C (p.Ala4154=)
|
rs2153959921
|
|
|
NM_001164508.2(NEB):c.12463T>C (p.Leu4155=)
|
|
|
|
NM_001164508.2(NEB):c.12465G>A (p.Leu4155=)
|
rs2153959905
|
|
|
NM_001164508.2(NEB):c.12468A>G (p.Ser4156=)
|
|
|
|
NM_001164508.2(NEB):c.12471C>T (p.Phe4157=)
|
rs2153959866
|
|
|
NM_001164508.2(NEB):c.12474C>A (p.Thr4158=)
|
rs1579059705
|
|
|
NM_001164508.2(NEB):c.12474C>G (p.Thr4158=)
|
rs1579059705
|
|
|
NM_001164508.2(NEB):c.12474C>T (p.Thr4158=)
|
rs1579059705
|
|
|
NM_001164508.2(NEB):c.12483C>T (p.Val4161=)
|
rs876657539
|
|
|
NM_001164508.2(NEB):c.12490C>T (p.Pro4164Ser)
|
rs1553877565
|
|
|
NM_001164508.2(NEB):c.12495A>G (p.Glu4165=)
|
|
|
|
NM_001164508.2(NEB):c.12498T>C (p.Val4166=)
|
rs2153959726
|
|
|
NM_001164508.2(NEB):c.12501C>A (p.Val4167=)
|
|
|
|
NM_001164508.2(NEB):c.12501C>G (p.Val4167=)
|
rs2153959703
|
|
|
NM_001164508.2(NEB):c.12504G>A (p.Leu4168=)
|
|
|
|
NM_001164508.2(NEB):c.12516T>C (p.Asn4172=)
|
|
|
|
NM_001164508.2(NEB):c.12522G>A (p.Leu4174=)
|
rs1579058797
|
|
|
NM_001164508.2(NEB):c.12523C>T (p.Gln4175Ter)
|
rs2153959601
|
|
|
NM_001164508.2(NEB):c.12525A>G (p.Gln4175=)
|
|
|
|
NM_001164508.2(NEB):c.12529A>T (p.Ser4177Cys)
|
rs1553877493
|
|
|
NM_001164508.2(NEB):c.12534+10A>G
|
rs2153959502
|
|
|
NM_001164508.2(NEB):c.12534+11T>C
|
|
|
|
NM_001164508.2(NEB):c.12534+12C>T
|
|
|
|
NM_001164508.2(NEB):c.12534+13C>A
|
|
|
|
NM_001164508.2(NEB):c.12534+13C>G
|
|
|
|
NM_001164508.2(NEB):c.12534+13C>T
|
|
|
|
NM_001164508.2(NEB):c.12534+15A>C
|
|
|
|
NM_001164508.2(NEB):c.12534+16C>G
|
|
|
|
NM_001164508.2(NEB):c.12534+16C>T
|
|
|
|
NM_001164508.2(NEB):c.12534+17T>C
|
rs2153959467
|
|
|
NM_001164508.2(NEB):c.12534+18A>G
|
|
|
|
NM_001164508.2(NEB):c.12534+19T>A
|
|
|
|
NM_001164508.2(NEB):c.12534+20C>G
|
|
|
|
NM_001164508.2(NEB):c.12534+3A>C
|
|
|
|
NM_001164508.2(NEB):c.12534+3A>G
|
rs2097772131
|
|
|
NM_001164508.2(NEB):c.12534+7A>C
|
|
|
|
NM_001164508.2(NEB):c.12534+9C>G
|
|
|
|
NM_001164508.2(NEB):c.12534+9del
|
|
|
|
NM_001164508.2(NEB):c.12535-10C>A
|
|
|
|
NM_001164508.2(NEB):c.12535-10C>G
|
rs2097760296
|
|
|
NM_001164508.2(NEB):c.12535-10C>T
|
rs2097760296
|
|
|
NM_001164508.2(NEB):c.12535-13C>A
|
|
|
|
NM_001164508.2(NEB):c.12535-13C>G
|
|
|
|
NM_001164508.2(NEB):c.12535-13C>T
|
rs2153958141
|
|
|
NM_001164508.2(NEB):c.12535-14C>T
|
rs2153958163
|
|
|
NM_001164508.2(NEB):c.12535-15C>G
|
|
|
|
NM_001164508.2(NEB):c.12535-16T>A
|
|
|
|
NM_001164508.2(NEB):c.12535-17T>G
|
|
|
|
NM_001164508.2(NEB):c.12535-18T>C
|
|
|
|
NM_001164508.2(NEB):c.12535-19A>G
|
|
|
|
NM_001164508.2(NEB):c.12535-3C>T
|
rs2153958050
|
|
|
NM_001164508.2(NEB):c.12538C>T (p.Leu4180=)
|
|
|
|
NM_001164508.2(NEB):c.12540G>A (p.Leu4180=)
|
|
|
|
NM_001164508.2(NEB):c.12543T>C (p.Tyr4181=)
|
|
|
|
NM_001164508.2(NEB):c.12550G>A (p.Ala4184Thr)
|
rs1553877049
|
|
|
NM_001164508.2(NEB):c.12554G>A (p.Trp4185Ter)
|
|
|
|
NM_001164508.2(NEB):c.12555del (p.Ala4184_Trp4185insTer)
|
rs2097759896
|
|
|
NM_001164508.2(NEB):c.12558_12568del (p.Asn4186fs)
|
|
|
|
NM_001164508.2(NEB):c.12561A>G (p.Lys4187=)
|
rs2153957983
|
|
|
NM_001164508.2(NEB):c.1257+13A>C
|
rs75320668
|
|
|
NM_001164508.2(NEB):c.1257+13A>G
|
|
|
|
NM_001164508.2(NEB):c.1257+13_1257+15del
|
|
|
|
NM_001164508.2(NEB):c.1257+16G>A
|
|
|
|
NM_001164508.2(NEB):c.1257+16G>T
|
|
|
|
NM_001164508.2(NEB):c.1257+19A>G
|
|
|
|
NM_001164508.2(NEB):c.1257+2T>G
|
rs2149365500
|
|
|
NM_001164508.2(NEB):c.1257+3A>G
|
|
|
|
NM_001164508.2(NEB):c.12572del (p.Asn4191fs)
|
|
|
|
NM_001164508.2(NEB):c.12573C>T (p.Asn4191=)
|
rs1382871208
|
|
|
NM_001164508.2(NEB):c.12576C>T (p.Ile4192=)
|
|
|
|
NM_001164508.2(NEB):c.1258-11T>C
|
|
|
|
NM_001164508.2(NEB):c.1258-12T>G
|
|
|
|
NM_001164508.2(NEB):c.1258-12_1258-8dup
|
|
|
|
NM_001164508.2(NEB):c.1258-14G>T
|
|
|
|
NM_001164508.2(NEB):c.1258-18G>A
|
|
|
|
NM_001164508.2(NEB):c.1258-4G>A
|
|
|
|
NM_001164508.2(NEB):c.1258-9G>A
|
|
|
|
NM_001164508.2(NEB):c.12591T>C (p.Asp4197=)
|
rs1553876898
|
|
|
NM_001164508.2(NEB):c.12594T>A (p.Thr4198=)
|
rs1253550964
|
|
|
NM_001164508.2(NEB):c.12594T>C (p.Thr4198=)
|
rs1253550964
|
|
|
NM_001164508.2(NEB):c.12597G>C (p.Pro4199=)
|
|
|
|
NM_001164508.2(NEB):c.12600G>A (p.Glu4200=)
|
|
|
|
NM_001164508.2(NEB):c.12600_12601del (p.Glu4200fs)
|
|
|
|
NM_001164508.2(NEB):c.12601A>T (p.Met4201Leu)
|
rs1553876833
|
|
|
NM_001164508.2(NEB):c.12604C>T (p.Leu4202=)
|
rs985777917
|
|
|
NM_001164508.2(NEB):c.12612C>A (p.Ala4204=)
|
|
|
|
NM_001164508.2(NEB):c.12612C>T (p.Ala4204=)
|
rs1579048112
|
|
|
NM_001164508.2(NEB):c.12615C>T (p.His4205=)
|
rs1579048021
|
|
|
NM_001164508.2(NEB):c.12621T>C (p.Asn4207=)
|
rs1579047904
|
|
|
NM_001164508.2(NEB):c.12624C>T (p.Ala4208=)
|
|
|
|
NM_001164508.2(NEB):c.12633C>T (p.Ile4211=)
|
rs2153957718
|
|
|
NM_001164508.2(NEB):c.12636C>T (p.Ser4212=)
|
rs1553876762
|
|
|
NM_001164508.2(NEB):c.12639+10A>G
|
|
|
|
NM_001164508.2(NEB):c.12639+12G>A
|
rs1240233792
|
|
|
NM_001164508.2(NEB):c.12639+14A>G
|
rs2153957603
|
|
|
NM_001164508.2(NEB):c.12639+16A>T
|
|
|
|
NM_001164508.2(NEB):c.12639+17T>C
|
|
|
|
NM_001164508.2(NEB):c.12639+1G>A
|
rs2097758221
|
|
|
NM_001164508.2(NEB):c.12639+2T>C
|
rs2153957684
|
|
|
NM_001164508.2(NEB):c.12639+4A>G
|
|
|
|
NM_001164508.2(NEB):c.12639+7G>A
|
|
|
|
NM_001164508.2(NEB):c.12639+7G>T
|
rs1457365633
|
|
|
NM_001164508.2(NEB):c.12639+8G>A
|
rs2153957654
|
|
|
NM_001164508.2(NEB):c.12639dup (p.Lys4214Ter)
|
|
|
|
NM_001164508.2(NEB):c.12640-11dup
|
|
|
|
NM_001164508.2(NEB):c.12640-13T>C
|
|
|
|
NM_001164508.2(NEB):c.12640-16T>C
|
|
|
|
NM_001164508.2(NEB):c.12640-19C>A
|
|
|
|
NM_001164508.2(NEB):c.12640-19C>T
|
|
|
|
NM_001164508.2(NEB):c.12640-1G>A
|
rs2097713999
|
|
|
NM_001164508.2(NEB):c.12640-23_12640-20del
|
|
|
|
NM_001164508.2(NEB):c.12640-6C>A
|
|
|
|
NM_001164508.2(NEB):c.12640-6C>G
|
rs1579019126
|
|
|
NM_001164508.2(NEB):c.12640-6C>T
|
rs1579019126
|
|
|
NM_001164508.2(NEB):c.12640-8C>T
|
|
|
|
NM_001164508.2(NEB):c.12640-9C>T
|
rs2097714656
|
|
|
NM_001164508.2(NEB):c.12645C>G (p.Leu4215=)
|
|
|
|
NM_001164508.2(NEB):c.12645C>T (p.Leu4215=)
|
rs2153953836
|
|
|
NM_001164508.2(NEB):c.12648C>G (p.Tyr4216Ter)
|
rs2097713802
|
|
|
NM_001164508.2(NEB):c.12648C>T (p.Tyr4216=)
|
rs2097713802
|
|
|
NM_001164508.2(NEB):c.12651A>G (p.Gln4217=)
|
rs2097713760
|
|
|
NM_001164508.2(NEB):c.12657C>T (p.Asp4219=)
|
rs2153953767
|
|
|
NM_001164508.2(NEB):c.12659G>A (p.Trp4220Ter)
|
rs2153953739
|
|
|
NM_001164508.2(NEB):c.12660G>A (p.Trp4220Ter)
|
|
|
|
NM_001164508.2(NEB):c.12662A>G (p.Asn4221Ser)
|
rs1553875590
|
|
|
NM_001164508.2(NEB):c.12669C>G (p.Ala4223=)
|
|
|
|
NM_001164508.2(NEB):c.1266T>C (p.Tyr422=)
|
|
|
|
NM_001164508.2(NEB):c.12672G>A (p.Lys4224=)
|
rs2153953596
|
|
|
NM_001164508.2(NEB):c.12673C>T (p.Gln4225Ter)
|
|
|
|
NM_001164508.2(NEB):c.1267A>G (p.Lys423Glu)
|
rs2099604411
|
|
|
NM_001164508.2(NEB):c.12681C>T (p.Gly4227=)
|
|
|
|
NM_001164508.2(NEB):c.12684T>G (p.Tyr4228Ter)
|
rs1553875421
|
|
|
NM_001164508.2(NEB):c.12686A>G (p.Asp4229Gly)
|
rs1553875409
|
|
|
NM_001164508.2(NEB):c.12687C>T (p.Asp4229=)
|
rs2153953490
|
|
|
NM_001164508.2(NEB):c.12699T>C (p.Asp4233=)
|
|
|
|
NM_001164508.2(NEB):c.1269A>G (p.Lys423=)
|
|
|
|
NM_001164508.2(NEB):c.126T>C (p.Tyr42=)
|
|
|
|
NM_001164508.2(NEB):c.12702C>T (p.Ala4234=)
|
|
|
|
NM_001164508.2(NEB):c.12709_12710del (p.Ile4237fs)
|
|
|
|
NM_001164508.2(NEB):c.12717C>T (p.His4239=)
|
rs1553875334
|
|
|
NM_001164508.2(NEB):c.12720C>T (p.Ala4240=)
|
rs1579015882
|
|
|
NM_001164508.2(NEB):c.12723G>A (p.Lys4241=)
|
rs772682280
|
|
|
NM_001164508.2(NEB):c.12726C>T (p.Ala4242=)
|
rs2153953306
|
|
|
NM_001164508.2(NEB):c.12730A>C (p.Arg4244=)
|
|
|
|
NM_001164508.2(NEB):c.12733G>T (p.Glu4245Ter)
|
rs2097711830
|
|
|
NM_001164508.2(NEB):c.12736del (p.Ile4246fs)
|
rs1176407542
|
|
|
NM_001164508.2(NEB):c.12738T>C (p.Ile4246=)
|
|
|
|
NM_001164508.2(NEB):c.12738del (p.Ile4246fs)
|
rs2097711696
|
|
|
NM_001164508.2(NEB):c.1273T>G (p.Ser425Ala)
|
rs1270235018
|
|
|
NM_001164508.2(NEB):c.12747+10C>T
|
rs2153953179
|
|
|
NM_001164508.2(NEB):c.12747+11T>C
|
|
|
|
NM_001164508.2(NEB):c.12747+13C>A
|
|
|
|
NM_001164508.2(NEB):c.12747+13C>T
|
|
|
|
NM_001164508.2(NEB):c.12747+14T>C
|
rs2153953167
|
|
|
NM_001164508.2(NEB):c.12747+15C>G
|
|
|
|
NM_001164508.2(NEB):c.12747+18_12747+22del
|
|
|
|
NM_001164508.2(NEB):c.12747+19T>G
|
|
|
|
NM_001164508.2(NEB):c.12747+20C>T
|
|
|
|
NM_001164508.2(NEB):c.12747+2T>C
|
|
|
|
NM_001164508.2(NEB):c.12747+5G>A
|
rs1251007091
|
|
|
NM_001164508.2(NEB):c.12747+7T>G
|
rs2153953193
|
|
|
NM_001164508.2(NEB):c.12748-10A>C
|
|
|
|
NM_001164508.2(NEB):c.12748-10A>G
|
rs1553872572
|
|
|
NM_001164508.2(NEB):c.12748-12T>C
|
|
|
|
NM_001164508.2(NEB):c.12748-12T>G
|
|
|
|
NM_001164508.2(NEB):c.12748-18G>C
|
|
|
|
NM_001164508.2(NEB):c.12748-18G>T
|
|
|
|
NM_001164508.2(NEB):c.12748-1G>A
|
|
|
|
NM_001164508.2(NEB):c.12748-1_12761del
|
rs2153940927
|
|
|
NM_001164508.2(NEB):c.12748-20A>G
|
|
|
|
NM_001164508.2(NEB):c.12748-4T>C
|
rs2153940982
|
|
|
NM_001164508.2(NEB):c.12748-5T>C
|
rs2153941009
|
|
|
NM_001164508.2(NEB):c.12748-6C>T
|
rs2153941027
|
|
|
NM_001164508.2(NEB):c.12748-7A>G
|
|
|
|
NM_001164508.2(NEB):c.12748-8T>C
|
|
|
|
NM_001164508.2(NEB):c.12748-9C>T
|
rs2153941069
|
|
|
NM_001164508.2(NEB):c.12750C>T (p.Tyr4250=)
|
rs2153940966
|
|
|
NM_001164508.2(NEB):c.12753A>G (p.Lys4251=)
|
rs2153940953
|
|
|
NM_001164508.2(NEB):c.12756C>T (p.Tyr4252=)
|
|
|
|
NM_001164508.2(NEB):c.12762A>G (p.Glu4254=)
|
|
|
|
NM_001164508.2(NEB):c.12765T>C (p.Gly4255=)
|
|
|
|
NM_001164508.2(NEB):c.12767dup (p.Tyr4256Ter)
|
|
|
|
NM_001164508.2(NEB):c.12768C>T (p.Tyr4256=)
|
rs2153940868
|
|
|
NM_001164508.2(NEB):c.12774G>A (p.Lys4258=)
|
rs2153940816
|
|
|
NM_001164508.2(NEB):c.12777A>G (p.Gln4259=)
|
rs2153940796
|
|
|
NM_001164508.2(NEB):c.12782delinsTAACCTTCCACCAAC (p.Gly4261fs)
|
rs2153940785
|
|
|
NM_001164508.2(NEB):c.12783C>T (p.Gly4261=)
|
rs2153940770
|
|
|
NM_001164508.2(NEB):c.12786C>T (p.His4262=)
|
rs2153940731
|
|
|
NM_001164508.2(NEB):c.127G>C (p.Glu43Gln)
|
rs1578040162
|
|
|
NM_001164508.2(NEB):c.12800G>A (p.Arg4267His)
|
rs1049044616
|
|
|
NM_001164508.2(NEB):c.12801C>T (p.Arg4267=)
|
rs2097627587
|
|
|
NM_001164508.2(NEB):c.12804C>T (p.Thr4268=)
|
rs2153940607
|
|
|
NM_001164508.2(NEB):c.12807A>C (p.Leu4269=)
|
rs1211515336
|
|
|
NM_001164508.2(NEB):c.12807A>G (p.Leu4269=)
|
rs1211515336
|
|
|
NM_001164508.2(NEB):c.12807A>T (p.Leu4269=)
|
rs1211515336
|
|
|
NM_001164508.2(NEB):c.12808C>A (p.Gln4270Lys)
|
rs1057524648
|
|
|
NM_001164508.2(NEB):c.12813T>C (p.Asp4271=)
|
rs2097626924
|
|
|
NM_001164508.2(NEB):c.12819C>G (p.Pro4273=)
|
|
|
|
NM_001164508.2(NEB):c.12819del (p.Lys4274fs)
|
rs2153940505
|
|
|
NM_001164508.2(NEB):c.12820A>T (p.Lys4274Ter)
|
|
|
|
NM_001164508.2(NEB):c.12822G>A (p.Lys4274=)
|
rs994912801
|
|
|
NM_001164508.2(NEB):c.12825A>T (p.Ser4275=)
|
|
|
|
NM_001164508.2(NEB):c.12828A>G (p.Val4276=)
|
rs2153940460
|
|
|
NM_001164508.2(NEB):c.12840T>C (p.His4280=)
|
rs2153940378
|
|
|
NM_001164508.2(NEB):c.12843T>A (p.Ala4281=)
|
|
|
|
NM_001164508.2(NEB):c.12843T>G (p.Ala4281=)
|
|
|
|
NM_001164508.2(NEB):c.12849G>A (p.Lys4283=)
|
|
|
|
NM_001164508.2(NEB):c.12852C>A (p.Ile4284=)
|
|
|
|
NM_001164508.2(NEB):c.12864A>G (p.Arg4288=)
|
rs1340260167
|
|
|
NM_001164508.2(NEB):c.12865del (p.Glu4289fs)
|
rs2153940243
|
|
|
NM_001164508.2(NEB):c.12870T>C (p.Tyr4290=)
|
rs2153940218
|
|
|
NM_001164508.2(NEB):c.12870_12871del (p.Tyr4290_Lys4291delinsTer)
|
|
|
|
NM_001164508.2(NEB):c.12873G>A (p.Lys4291=)
|
rs1578940609
|
|
|
NM_001164508.2(NEB):c.12879T>A (p.Ala4293=)
|
rs2153940149
|
|
|
NM_001164508.2(NEB):c.1287T>C (p.Asp429=)
|
|
|
|
NM_001164508.2(NEB):c.128A>C (p.Glu43Ala)
|
rs752660824
|
|
|
NM_001164508.2(NEB):c.12902A>T (p.His4301Leu)
|
rs1553872062
|
|
|
NM_001164508.2(NEB):c.12906C>T (p.Asn4302=)
|
|
|
|
NM_001164508.2(NEB):c.12909A>C (p.Thr4303=)
|
rs1578939596
|
|
|
NM_001164508.2(NEB):c.12909A>G (p.Thr4303=)
|
|
|
|
NM_001164508.2(NEB):c.12911C>T (p.Pro4304Leu)
|
rs1456001729
|
|
|
NM_001164508.2(NEB):c.12912G>A (p.Pro4304=)
|
rs886038430
|
|
|
NM_001164508.2(NEB):c.12912G>C (p.Pro4304=)
|
|
|
|
NM_001164508.2(NEB):c.12912G>T (p.Pro4304=)
|
rs886038430
|
|
|
NM_001164508.2(NEB):c.12913T>C (p.Leu4305=)
|
|
|
|
NM_001164508.2(NEB):c.12915G>A (p.Leu4305=)
|
|
|
|
NM_001164508.2(NEB):c.12918C>T (p.Asp4306=)
|
rs2153939944
|
|
|
NM_001164508.2(NEB):c.12922A>G (p.Met4308Val)
|
rs1553871982
|
|
|
NM_001164508.2(NEB):c.12927A>G (p.Ser4309=)
|
rs2153939850
|
|
|
NM_001164508.2(NEB):c.12930T>C (p.Ile4310=)
|
rs2153939808
|
|
|
NM_001164508.2(NEB):c.12933T>C (p.Val4311=)
|
rs1578938742
|
|
|
NM_001164508.2(NEB):c.1293G>A (p.Leu431=)
|
|
|
|
NM_001164508.2(NEB):c.12951G>A (p.Gln4317=)
|
rs2153939690
|
|
|
NM_001164508.2(NEB):c.12954C>G (p.Val4318=)
|
rs1553871881
|
|
|
NM_001164508.2(NEB):c.12954C>T (p.Val4318=)
|
rs1553871881
|
|
|
NM_001164508.2(NEB):c.12957G>A (p.Leu4319=)
|
|
|
|
NM_001164508.2(NEB):c.12957G>C (p.Leu4319=)
|
rs2153939636
|
|
|
NM_001164508.2(NEB):c.12957G>T (p.Leu4319=)
|
rs2153939636
|
|
|
NM_001164508.2(NEB):c.12963C>T (p.Ser4321=)
|
rs1286358276
|
|
|
NM_001164508.2(NEB):c.12969T>C (p.Ile4323=)
|
|
|
|
NM_001164508.2(NEB):c.12977G>A (p.Arg4326His)
|
rs1429486273
|
|
|
NM_001164508.2(NEB):c.12978C>T (p.Arg4326=)
|
|
|
|
NM_001164508.2(NEB):c.12981T>C (p.Asn4327=)
|
|
|
|
NM_001164508.2(NEB):c.12984T>G (p.Tyr4328Ter)
|
|
|
|
NM_001164508.2(NEB):c.12985C>T (p.Leu4329=)
|
|
|
|
NM_001164508.2(NEB):c.12990C>T (p.His4330=)
|
rs2153939406
|
|
|
NM_001164508.2(NEB):c.12991C>T (p.Gln4331Ter)
|
rs1326513178
|
|
|
NM_001164508.2(NEB):c.12993G>A (p.Gln4331=)
|
rs2153939382
|
|
|
NM_001164508.2(NEB):c.12996G>A (p.Trp4332Ter)
|
rs2153939368
|
|
|
NM_001164508.2(NEB):c.12999G>A (p.Thr4333=)
|
rs1384738774
|
|
|
NM_001164508.2(NEB):c.12999G>T (p.Thr4333=)
|
rs1384738774
|
|
|
NM_001164508.2(NEB):c.129G>T (p.Glu43Asp)
|
rs1290183134
|
|
|
NM_001164508.2(NEB):c.13005G>A (p.Leu4335=)
|
rs2153939252
|
|
|
NM_001164508.2(NEB):c.13008A>G (p.Pro4336=)
|
rs2097619223
|
|
|
NM_001164508.2(NEB):c.13011T>C (p.Asp4337=)
|
rs2153939192
|
|
|
NM_001164508.2(NEB):c.13017C>T (p.Asn4339=)
|
rs1165436206
|
|
|
NM_001164508.2(NEB):c.13020T>C (p.Asp4340=)
|
rs2153939124
|
|
|
NM_001164508.2(NEB):c.13023G>A (p.Val4341=)
|
rs2153939102
|
|
|
NM_001164508.2(NEB):c.13023G>T (p.Val4341=)
|
|
|
|
NM_001164508.2(NEB):c.13026C>T (p.Ile4342=)
|
rs1421466863
|
|
|
NM_001164508.2(NEB):c.13029G>A (p.Gln4343=)
|
rs2153939066
|
|
|
NM_001164508.2(NEB):c.13038A>G (p.Lys4346=)
|
rs2153939047
|
|
|
NM_001164508.2(NEB):c.1303G>A (p.Val435Ile)
|
|
|
|
NM_001164508.2(NEB):c.1303G>T (p.Val435Leu)
|
rs763255052
|
|
|
NM_001164508.2(NEB):c.13048C>T (p.Leu4350=)
|
rs1578935610
|
|
|
NM_001164508.2(NEB):c.13050G>A (p.Leu4350=)
|
rs2153938949
|
|
|
NM_001164508.2(NEB):c.13052A>G (p.Gln4351Arg)
|
rs1553871396
|
|
|
NM_001164508.2(NEB):c.13053G>A (p.Gln4351=)
|
rs2097617835
|
|
|
NM_001164508.2(NEB):c.13056C>A (p.Ser4352Arg)
|
rs1468240932
|
|
|
NM_001164508.2(NEB):c.13056C>T (p.Ser4352=)
|
rs1468240932
|
|
|
NM_001164508.2(NEB):c.13059+11T>C
|
rs2153938707
|
|
|
NM_001164508.2(NEB):c.13059+12A>G
|
|
|
|
NM_001164508.2(NEB):c.13059+13T>C
|
|
|
|
NM_001164508.2(NEB):c.13059+15G>A
|
|
|
|
NM_001164508.2(NEB):c.13059+15G>C
|
rs1272670020
|
|
|
NM_001164508.2(NEB):c.13059+15G>T
|
|
|
|
NM_001164508.2(NEB):c.13059+16C>G
|
|
|
|
NM_001164508.2(NEB):c.13059+18A>C
|
|
|
|
NM_001164508.2(NEB):c.13059+5G>A
|
|
|
|
NM_001164508.2(NEB):c.13059+7A>G
|
rs2153938761
|
|
|
NM_001164508.2(NEB):c.13059+7AT[4]
|
|
|
|
NM_001164508.2(NEB):c.13060-10C>T
|
rs2097571785
|
|
|
NM_001164508.2(NEB):c.13060-11C>A
|
|
|
|
NM_001164508.2(NEB):c.13060-13C>T
|
|
|
|
NM_001164508.2(NEB):c.13060-14T>C
|
|
|
|
NM_001164508.2(NEB):c.13060-15C>T
|
|
|
|
NM_001164508.2(NEB):c.13060-17T>G
|
|
|
|
NM_001164508.2(NEB):c.13060-18T>C
|
|
|
|
NM_001164508.2(NEB):c.13060-19G>A
|
|
|
|
NM_001164508.2(NEB):c.13060-2A>G
|
rs2097571378
|
|
|
NM_001164508.2(NEB):c.13060-6A>C
|
rs1195747738
|
|
|
NM_001164508.2(NEB):c.13060-7C>T
|
|
|
|
NM_001164508.2(NEB):c.13068C>A (p.Tyr4356Ter)
|
|
|
|
NM_001164508.2(NEB):c.13068C>T (p.Tyr4356=)
|
rs2153931607
|
|
|
NM_001164508.2(NEB):c.13070_13071del (p.Lys4357fs)
|
|
|
|
NM_001164508.2(NEB):c.13071G>A (p.Lys4357=)
|
rs2153931565
|
|
|
NM_001164508.2(NEB):c.13074A>G (p.Ser4358=)
|
rs2097571157
|
|
|
NM_001164508.2(NEB):c.13077C>T (p.Asp4359=)
|
rs199886070
|
|
|
NM_001164508.2(NEB):c.13078C>T (p.Leu4360=)
|
rs761799512
|
|
|
NM_001164508.2(NEB):c.1307dup (p.Ser437fs)
|
|
|
|
NM_001164508.2(NEB):c.13080G>A (p.Leu4360=)
|
rs1346547526
|
|
|
NM_001164508.2(NEB):c.13081G>T (p.Glu4361Ter)
|
|
|
|
NM_001164508.2(NEB):c.13083A>G (p.Glu4361=)
|
rs2153931465
|
|
|
NM_001164508.2(NEB):c.13085G>A (p.Trp4362Ter)
|
rs1449776440
|
|
|
NM_001164508.2(NEB):c.13099G>T (p.Gly4367Ter)
|
rs1278785558
|
|
|
NM_001164508.2(NEB):c.13101A>G (p.Gly4367=)
|
rs1442619838
|
|
|
NM_001164508.2(NEB):c.13101A>T (p.Gly4367=)
|
|
|
|
NM_001164508.2(NEB):c.13103G>A (p.Trp4368Ter)
|
rs2153931339
|
|
|
NM_001164508.2(NEB):c.13107G>A (p.Leu4369=)
|
rs1310978096
|
|
|
NM_001164508.2(NEB):c.1310G>A (p.Ser437Asn)
|
rs1466400136
|
|
|
NM_001164508.2(NEB):c.13119T>C (p.Ser4373=)
|
|
|
|
NM_001164508.2(NEB):c.13123G>T (p.Glu4375Ter)
|
|
|
|
NM_001164508.2(NEB):c.13128G>A (p.Val4376=)
|
rs760864074
|
|
|
NM_001164508.2(NEB):c.13131del (p.Met4377fs)
|
|
|
|
NM_001164508.2(NEB):c.13132A>T (p.Arg4378Ter)
|
|
|
|
NM_001164508.2(NEB):c.13134A>G (p.Arg4378=)
|
rs1269546220
|
|
|
NM_001164508.2(NEB):c.13137G>A (p.Val4379=)
|
rs2153931034
|
|
|
NM_001164508.2(NEB):c.13140G>A (p.Lys4380=)
|
rs1486264146
|
|
|
NM_001164508.2(NEB):c.13142del (p.Asn4381fs)
|
rs2153930968
|
|
|
NM_001164508.2(NEB):c.13143T>C (p.Asn4381=)
|
rs1578893798
|
|
|
NM_001164508.2(NEB):c.13146C>T (p.Ala4382=)
|
|
|
|
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)
|
rs1212374733
|
|
|
NM_001164508.2(NEB):c.13148del (p.Gln4383fs)
|
|
|
|
NM_001164508.2(NEB):c.13149G>A (p.Gln4383=)
|
rs1427606021
|
|
|
NM_001164508.2(NEB):c.1314C>T (p.Phe438=)
|
rs765769921
|
|
|
NM_001164508.2(NEB):c.13152T>C (p.Asn4384=)
|
rs2153930870
|
|
|
NM_001164508.2(NEB):c.13153_13156del (p.Asn4384_Leu4385insTer)
|
|
|
|
NM_001164508.2(NEB):c.13157T>A (p.Leu4386Ter)
|
rs2153930856
|
|
|
NM_001164508.2(NEB):c.1315G>C (p.Glu439Gln)
|
|
|
|
NM_001164508.2(NEB):c.13161T>C (p.Asn4387=)
|
rs2153930837
|
|
|
NM_001164508.2(NEB):c.13167G>A (p.Arg4389=)
|
rs1283113332
|
|
|
NM_001164508.2(NEB):c.13170G>A (p.Leu4390=)
|
rs1224185514
|
|
|
NM_001164508.2(NEB):c.13170G>T (p.Leu4390=)
|
rs1224185514
|
|
|
NM_001164508.2(NEB):c.13173T>A (p.Tyr4391Ter)
|
rs2153930733
|
|
|
NM_001164508.2(NEB):c.13182G>A (p.Lys4394=)
|
rs1392218250
|
|
|
NM_001164508.2(NEB):c.13185T>C (p.Pro4395=)
|
rs1344892267
|
|
|
NM_001164508.2(NEB):c.13185T>G (p.Pro4395=)
|
|
|
|
NM_001164508.2(NEB):c.13186G>T (p.Glu4396Ter)
|
|
|
|
NM_001164508.2(NEB):c.13188G>A (p.Glu4396=)
|
rs1160127965
|
|
|
NM_001164508.2(NEB):c.13191C>G (p.Ala4397=)
|
rs2153930542
|
|
|
NM_001164508.2(NEB):c.13191C>T (p.Ala4397=)
|
rs2153930542
|
|
|
NM_001164508.2(NEB):c.13194C>A (p.Leu4398=)
|
rs2153930518
|
|
|
NM_001164508.2(NEB):c.13194C>G (p.Leu4398=)
|
|
|
|
NM_001164508.2(NEB):c.13197A>G (p.Lys4399=)
|
rs2153930494
|
|
|
NM_001164508.2(NEB):c.13200C>T (p.Phe4400=)
|
|
|
|
NM_001164508.2(NEB):c.13203C>A (p.Thr4401=)
|
|
|
|
NM_001164508.2(NEB):c.13203C>T (p.Thr4401=)
|
|
|
|
NM_001164508.2(NEB):c.13206C>T (p.Ser4402=)
|
rs2153930427
|
|
|
NM_001164508.2(NEB):c.13212T>C (p.Val4404=)
|
|
|
|
NM_001164508.2(NEB):c.13215C>T (p.Asp4405=)
|
|
|
|
NM_001164508.2(NEB):c.13218C>A (p.Thr4406=)
|
rs1553867144
|
|
|
NM_001164508.2(NEB):c.13218C>G (p.Thr4406=)
|
rs1553867144
|
|
|
NM_001164508.2(NEB):c.13218C>T (p.Thr4406=)
|
rs1553867144
|
|
|
NM_001164508.2(NEB):c.13220del (p.Pro4407fs)
|
rs2153930361
|
|
|
NM_001164508.2(NEB):c.13230C>T (p.Ile4410=)
|
rs1488837816
|
|
|
NM_001164508.2(NEB):c.13233G>A (p.Gln4411=)
|
|
|
|
NM_001164508.2(NEB):c.13236A>C (p.Ala4412=)
|
|
|
|
NM_001164508.2(NEB):c.13236A>G (p.Ala4412=)
|
rs1578890458
|
|
|
NM_001164508.2(NEB):c.13239G>A (p.Lys4413=)
|
rs2153930230
|
|
|
NM_001164508.2(NEB):c.1323A>G (p.Pro441=)
|
rs2149359721
|
|
|
NM_001164508.2(NEB):c.13242C>A (p.Ile4414=)
|
rs2097567357
|
|
|
NM_001164508.2(NEB):c.13245T>C (p.Asn4415=)
|
rs2153930186
|
|
|
NM_001164508.2(NEB):c.13248T>C (p.Ala4416=)
|
rs1553866979
|
|
|
NM_001164508.2(NEB):c.13251A>G (p.Val4417=)
|
rs1246456851
|
|
|
NM_001164508.2(NEB):c.13251A>T (p.Val4417=)
|
|
|
|
NM_001164508.2(NEB):c.13257C>A (p.Ile4419=)
|
rs1578890171
|
|
|
NM_001164508.2(NEB):c.13257C>T (p.Ile4419=)
|
rs1578890171
|
|
|
NM_001164508.2(NEB):c.13263+10G>A
|
rs2153929949
|
|
|
NM_001164508.2(NEB):c.13263+11G>A
|
|
|
|
NM_001164508.2(NEB):c.13263+13G>A
|
|
|
|
NM_001164508.2(NEB):c.13263+14G>A
|
|
|
|
NM_001164508.2(NEB):c.13263+14G>C
|
|
|
|
NM_001164508.2(NEB):c.13263+19T>C
|
|
|
|
NM_001164508.2(NEB):c.13263+19T>G
|
|
|
|
NM_001164508.2(NEB):c.13263+20G>T
|
|
|
|
NM_001164508.2(NEB):c.13263+4A>G
|
rs2097566924
|
|
|
NM_001164508.2(NEB):c.13263+8C>A
|
rs1553866957
|
|
|
NM_001164508.2(NEB):c.13263+8C>T
|
rs1553866957
|
|
|
NM_001164508.2(NEB):c.13264-10T>C
|
|
|
|
NM_001164508.2(NEB):c.13264-11A>G
|
|
|
|
NM_001164508.2(NEB):c.13264-12C>G
|
|
|
|
NM_001164508.2(NEB):c.13264-13T>C
|
|
|
|
NM_001164508.2(NEB):c.13264-13dup
|
|
|
|
NM_001164508.2(NEB):c.13264-16T>C
|
rs2153925816
|
|
|
NM_001164508.2(NEB):c.13264-16T>G
|
|
|
|
NM_001164508.2(NEB):c.13264-17T>C
|
|
|
|
NM_001164508.2(NEB):c.13264-17T>G
|
|
|
|
NM_001164508.2(NEB):c.13264-18G>A
|
rs886038432
|
|
|
NM_001164508.2(NEB):c.13264-18G>C
|
|
|
|
NM_001164508.2(NEB):c.13264-18G>T
|
|
|
|
NM_001164508.2(NEB):c.13264-19C>T
|
|
|
|
NM_001164508.2(NEB):c.13264-4C>A
|
|
|
|
NM_001164508.2(NEB):c.13264-4C>T
|
rs2153925657
|
|
|
NM_001164508.2(NEB):c.13264-5C>A
|
rs1578873942
|
|
|
NM_001164508.2(NEB):c.13264-5C>T
|
rs1578873942
|
|
|
NM_001164508.2(NEB):c.13264-6T>C
|
rs2153925717
|
|
|
NM_001164508.2(NEB):c.13264-6dup
|
|
|
|
NM_001164508.2(NEB):c.13264-7T>C
|
|
|
|
NM_001164508.2(NEB):c.13264-9T>A
|
rs1578874426
|
|
|
NM_001164508.2(NEB):c.13264-9T>C
|
rs1578874426
|
|
|
NM_001164508.2(NEB):c.13266A>G (p.Pro4422=)
|
rs2153925623
|
|
|
NM_001164508.2(NEB):c.13267T>C (p.Leu4423=)
|
rs2153925607
|
|
|
NM_001164508.2(NEB):c.13268T>A (p.Leu4423Ter)
|
|
|
|
NM_001164508.2(NEB):c.13269G>A (p.Leu4423=)
|
rs2153925593
|
|
|
NM_001164508.2(NEB):c.1326C>T (p.Tyr442=)
|
|
|
|
NM_001164508.2(NEB):c.13275C>G (p.Arg4425=)
|
rs1382032864
|
|
|
NM_001164508.2(NEB):c.13275C>T (p.Arg4425=)
|
rs1382032864
|
|
|
NM_001164508.2(NEB):c.13281C>A (p.Ala4427=)
|
|
|
|
NM_001164508.2(NEB):c.13281C>G (p.Ala4427=)
|
|
|
|
NM_001164508.2(NEB):c.13281C>T (p.Ala4427=)
|
rs2153925456
|
|
|
NM_001164508.2(NEB):c.13283G>A (p.Trp4428Ter)
|
|
|
|
NM_001164508.2(NEB):c.13287G>A (p.Glu4429=)
|
|
|
|
NM_001164508.2(NEB):c.13290A>G (p.Lys4430=)
|
|
|
|
NM_001164508.2(NEB):c.13292del (p.Glu4431fs)
|
|
|
|
NM_001164508.2(NEB):c.13293G>A (p.Glu4431=)
|
rs2153925421
|
|
|
NM_001164508.2(NEB):c.13296G>A (p.Lys4432=)
|
rs2153925400
|
|
|
NM_001164508.2(NEB):c.1329T>C (p.His443=)
|
rs1235888148
|
|
|
NM_001164508.2(NEB):c.13302T>C (p.Asn4434=)
|
rs2153925383
|
|
|
NM_001164508.2(NEB):c.13308C>T (p.Asn4436=)
|
rs1553865962
|
|
|
NM_001164508.2(NEB):c.13311G>A (p.Val4437=)
|
|
|
|
NM_001164508.2(NEB):c.13314A>C (p.Pro4438=)
|
|
|
|
NM_001164508.2(NEB):c.13314A>G (p.Pro4438=)
|
rs1272435160
|
|
|
NM_001164508.2(NEB):c.13317T>C (p.Ala4439=)
|
rs1578873204
|
|
|
NM_001164508.2(NEB):c.13323_13324insGCAATGTGAACGTGCTAATGTGAACGTG (p.Pro4442delinsAlaMetTer)
|
rs2153925252
|
|
|
NM_001164508.2(NEB):c.13326C>G (p.Pro4442=)
|
|
|
|
NM_001164508.2(NEB):c.13326C>T (p.Pro4442=)
|
rs2153925229
|
|
|
NM_001164508.2(NEB):c.13327C>T (p.Leu4443=)
|
rs1578872999
|
|
|
NM_001164508.2(NEB):c.13328del (p.Leu4443fs)
|
rs2153925181
|
|
|
NM_001164508.2(NEB):c.13333C>T (p.Leu4445=)
|
rs2153925131
|
|
|
NM_001164508.2(NEB):c.13335G>A (p.Leu4445=)
|
|
|
|
NM_001164508.2(NEB):c.1333C>T (p.His445Tyr)
|
rs771832822
|
|
|
NM_001164508.2(NEB):c.1333del (p.His445fs)
|
rs1576704575
|
|
|
NM_001164508.2(NEB):c.13341C>G (p.Ser4447=)
|
|
|
|
NM_001164508.2(NEB):c.13341_13362del (p.Lys4448fs)
|
rs2153924986
|
|
|
NM_001164508.2(NEB):c.13347C>T (p.Ile4449=)
|
|
|
|
NM_001164508.2(NEB):c.13347del (p.Asn4450fs)
|
rs2153925061
|
|
|
NM_001164508.2(NEB):c.13349_13353delinsGTGCT (p.Asn4450Ser)
|
rs1553865895
|
|
|
NM_001164508.2(NEB):c.13350_13353delinsCGCT (p.Asn4450_Ala4451=)
|
rs1578872605
|
|
|
NM_001164508.2(NEB):c.13353_13357delinsTCTGT (p.Gln4453Ter)
|
|
|
|
NM_001164508.2(NEB):c.13356G>A (p.Leu4452=)
|
|
|
|
NM_001164508.2(NEB):c.13362C>A (p.Ile4454=)
|
|
|
|
NM_001164508.2(NEB):c.13362C>T (p.Ile4454=)
|
rs1553865873
|
|
|
NM_001164508.2(NEB):c.13365C>T (p.Ser4455=)
|
rs2153924952
|
|
|
NM_001164508.2(NEB):c.13368+10C>T
|
|
|
|
NM_001164508.2(NEB):c.13368+10_13368+11inv
|
|
|
|
NM_001164508.2(NEB):c.13368+11A>G
|
rs112260335
|
|
|
NM_001164508.2(NEB):c.13368+15A>G
|
|
|
|
NM_001164508.2(NEB):c.13368+17C>A
|
rs2153924717
|
|
|
NM_001164508.2(NEB):c.13368+17C>T
|
|
|
|
NM_001164508.2(NEB):c.13368+18A>G
|
|
|
|
NM_001164508.2(NEB):c.13368+18A>T
|
|
|
|
NM_001164508.2(NEB):c.13368+1G>A
|
|
|
|
NM_001164508.2(NEB):c.13368+20T>C
|
|
|
|
NM_001164508.2(NEB):c.13368+20T>G
|
rs2153924683
|
|
|
NM_001164508.2(NEB):c.13368+6A>G
|
rs886038433
|
|
|
NM_001164508.2(NEB):c.13368+8_13368+11delinsCGCG
|
rs2153924824
|
|
|
NM_001164508.2(NEB):c.13368+8_13368+11delinsGCG
|
rs2153924856
|
|
|
NM_001164508.2(NEB):c.13368+9_13368+11delinsACG
|
rs2153924786
|
|
|
NM_001164508.2(NEB):c.13369-10C>A
|
|
|
|
NM_001164508.2(NEB):c.13369-14C>T
|
|
|
|
NM_001164508.2(NEB):c.13369-14CT[2]
|
rs1553865749
|
|
|
NM_001164508.2(NEB):c.13369-15A>C
|
|
|
|
NM_001164508.2(NEB):c.13369-17G>A
|
|
|
|
NM_001164508.2(NEB):c.13369-17G>T
|
rs2153924464
|
|
|
NM_001164508.2(NEB):c.13369-20_13369-12dup
|
|
|
|
NM_001164508.2(NEB):c.13369-2A>C
|
|
|
|
NM_001164508.2(NEB):c.13369-2A>G
|
|
|
|
NM_001164508.2(NEB):c.13369-2_13374del
|
|
|
|
NM_001164508.2(NEB):c.13369-8G>A
|
rs2153924322
|
|
|
NM_001164508.2(NEB):c.13369-9T>C
|
rs1553865725
|
|
|
NM_001164508.2(NEB):c.13369-9del
|
|
|
|
NM_001164508.2(NEB):c.13370A>C (p.Lys4457Thr)
|
rs1057521174
|
|
|
NM_001164508.2(NEB):c.13374C>A (p.Arg4458=)
|
rs1578869899
|
|
|
NM_001164508.2(NEB):c.13374C>T (p.Arg4458=)
|
rs1578869899
|
|
|
NM_001164508.2(NEB):c.13380G>A (p.Gln4460=)
|
rs2153924160
|
|
|
NM_001164508.2(NEB):c.13381C>T (p.Gln4461Ter)
|
|
|
|
NM_001164508.2(NEB):c.13385del (p.Ala4462fs)
|
|
|
|
NM_001164508.2(NEB):c.13386T>G (p.Ala4462=)
|
rs1578869691
|
|
|
NM_001164508.2(NEB):c.13389G>A (p.Trp4463Ter)
|
rs2153924098
|
|
|
NM_001164508.2(NEB):c.13392A>G (p.Glu4464=)
|
rs2153924071
|
|
|
NM_001164508.2(NEB):c.13395T>C (p.Asp4465=)
|
rs2153924042
|
|
|
NM_001164508.2(NEB):c.13398C>A (p.Val4466=)
|
rs2153924015
|
|
|
NM_001164508.2(NEB):c.13399A>T (p.Lys4467Ter)
|
|
|
|
NM_001164508.2(NEB):c.133_146del (p.Ser45fs)
|
rs1321522421
|
|
|
NM_001164508.2(NEB):c.13401G>A (p.Lys4467=)
|
|
|
|
NM_001164508.2(NEB):c.13406C>T (p.Thr4469Ile)
|
rs1192545815
|
|
|
NM_001164508.2(NEB):c.13407T>C (p.Thr4469=)
|
rs2153923967
|
|
|
NM_001164508.2(NEB):c.13407T>G (p.Thr4469=)
|
rs2153923967
|
|
|
NM_001164508.2(NEB):c.13407_13416del (p.Gly4470fs)
|
rs2153923895
|
|
|
NM_001164508.2(NEB):c.13411dup (p.Tyr4471fs)
|
|
|
|
NM_001164508.2(NEB):c.13413T>A (p.Tyr4471Ter)
|
|
|
|
NM_001164508.2(NEB):c.13413T>C (p.Tyr4471=)
|
rs2153923925
|
|
|
NM_001164508.2(NEB):c.13417del (p.Leu4473fs)
|
rs2153923874
|
|
|
NM_001164508.2(NEB):c.13419G>A (p.Leu4473=)
|
rs2153923838
|
|
|
NM_001164508.2(NEB):c.13420C>A (p.Arg4474=)
|
rs1578869371
|
|
|
NM_001164508.2(NEB):c.13420C>T (p.Arg4474Ter)
|
rs1578869371
|
|
|
NM_001164508.2(NEB):c.13422A>C (p.Arg4474=)
|
rs2153923773
|
|
|
NM_001164508.2(NEB):c.13425A>G (p.Ala4475=)
|
|
|
|
NM_001164508.2(NEB):c.13428T>C (p.Asp4476=)
|
rs1578869264
|
|
|
NM_001164508.2(NEB):c.13431C>T (p.Ala4477=)
|
rs2153923722
|
|
|
NM_001164508.2(NEB):c.13434T>C (p.Ile4478=)
|
|
|
|
NM_001164508.2(NEB):c.13437G>A (p.Gly4479=)
|
rs2153923647
|
|
|
NM_001164508.2(NEB):c.13437G>C (p.Gly4479=)
|
|
|
|
NM_001164508.2(NEB):c.13437del (p.Ile4480fs)
|
|
|
|
NM_001164508.2(NEB):c.13441C>T (p.Gln4481Ter)
|
rs2097548467
|
|
|
NM_001164508.2(NEB):c.13446T>C (p.His4482=)
|
rs2153923589
|
|
|
NM_001164508.2(NEB):c.13449C>G (p.Ala4483=)
|
rs2153923557
|
|
|
NM_001164508.2(NEB):c.13452G>A (p.Lys4484=)
|
rs2153923526
|
|
|
NM_001164508.2(NEB):c.13456T>A (p.Ser4486Thr)
|
rs886038434
|
|
|
NM_001164508.2(NEB):c.13458C>G (p.Ser4486=)
|
rs2153923428
|
|
|
NM_001164508.2(NEB):c.13458C>T (p.Ser4486=)
|
rs2153923428
|
|
|
NM_001164508.2(NEB):c.13459A>C (p.Arg4487=)
|
|
|
|
NM_001164508.2(NEB):c.13460G>T (p.Arg4487Met)
|
rs1553865625
|
|
|
NM_001164508.2(NEB):c.13461G>A (p.Arg4487=)
|
rs2153923374
|
|
|
NM_001164508.2(NEB):c.13464T>C (p.Asp4488=)
|
rs2153923341
|
|
|
NM_001164508.2(NEB):c.13465A>C (p.Ile4489Leu)
|
rs1553865611
|
|
|
NM_001164508.2(NEB):c.13466T>C (p.Ile4489Thr)
|
rs1433188091
|
|
|
NM_001164508.2(NEB):c.13467T>C (p.Ile4489=)
|
rs2153923267
|
|
|
NM_001164508.2(NEB):c.13475_13476delinsTT (p.Asp4492Val)
|
rs1553865579
|
|
|
NM_001164508.2(NEB):c.13476+10C>A
|
rs1578868114
|
|
|
NM_001164508.2(NEB):c.13476+10C>T
|
rs1578868114
|
|
|
NM_001164508.2(NEB):c.13476+11C>A
|
|
|
|
NM_001164508.2(NEB):c.13476+11C>T
|
|
|
|
NM_001164508.2(NEB):c.13476+13C>T
|
|
|
|
NM_001164508.2(NEB):c.13476+14C>T
|
|
|
|
NM_001164508.2(NEB):c.13476+15T>C
|
|
|
|
NM_001164508.2(NEB):c.13476+16_13476+17insA
|
|
|
|
NM_001164508.2(NEB):c.13476+16_13476+17insG
|
rs1064794509
|
|
|
NM_001164508.2(NEB):c.13476+17C>G
|
|
|
|
NM_001164508.2(NEB):c.13476+18C>T
|
|
|
|
NM_001164508.2(NEB):c.13476+19C>A
|
|
|
|
NM_001164508.2(NEB):c.13476+1G>A
|
rs1578868550
|
|
|
NM_001164508.2(NEB):c.13476+6A>C
|
|
|
|
NM_001164508.2(NEB):c.13476+7G>A
|
rs1553865548
|
|
|
NM_001164508.2(NEB):c.13476+7G>C
|
|
|
|
NM_001164508.2(NEB):c.13476+7dup
|
rs2153923160
|
|
|
NM_001164508.2(NEB):c.13476+8C>T
|
rs2153923069
|
|
|
NM_001164508.2(NEB):c.13477-10C>T
|
rs2153903738
|
|
|
NM_001164508.2(NEB):c.13477-11A>G
|
|
|
|
NM_001164508.2(NEB):c.13477-12C>A
|
|
|
|
NM_001164508.2(NEB):c.13477-12C>T
|
rs2153903775
|
|
|
NM_001164508.2(NEB):c.13477-14T>C
|
rs2153903799
|
|
|
NM_001164508.2(NEB):c.13477-19T>C
|
|
|
|
NM_001164508.2(NEB):c.13477-20T>A
|
|
|
|
NM_001164508.2(NEB):c.13477-2A>G
|
rs2153903681
|
|
|
NM_001164508.2(NEB):c.13477-2A>T
|
|
|
|
NM_001164508.2(NEB):c.13477-7C>T
|
rs1328191142
|
|
|
NM_001164508.2(NEB):c.13477-9A>G
|
rs1553862786
|
|
|
NM_001164508.2(NEB):c.13480C>T (p.Leu4494=)
|
rs1462287804
|
|
|
NM_001164508.2(NEB):c.13482G>A (p.Leu4494=)
|
rs2153903655
|
|
|
NM_001164508.2(NEB):c.13482G>C (p.Leu4494=)
|
|
|
|
NM_001164508.2(NEB):c.13482G>T (p.Leu4494=)
|
|
|
|
NM_001164508.2(NEB):c.13485C>T (p.Tyr4495=)
|
|
|
|
NM_001164508.2(NEB):c.13491T>G (p.Thr4497=)
|
rs2153903644
|
|
|
NM_001164508.2(NEB):c.13494T>C (p.Ala4498=)
|
rs2153903631
|
|
|
NM_001164508.2(NEB):c.13497T>C (p.Tyr4499=)
|
rs2153903611
|
|
|
NM_001164508.2(NEB):c.13500G>A (p.Glu4500=)
|
|
|
|
NM_001164508.2(NEB):c.13503A>G (p.Lys4501=)
|
rs2153903600
|
|
|
NM_001164508.2(NEB):c.13504C>T (p.Gln4502Ter)
|
rs2153903589
|
|
|
NM_001164508.2(NEB):c.13507_13510del (p.Lys4503fs)
|
|
|
|
NM_001164508.2(NEB):c.13509A>G (p.Lys4503=)
|
|
|
|
NM_001164508.2(NEB):c.13509del (p.Gly4504fs)
|
rs2153903564
|
|
|
NM_001164508.2(NEB):c.13512C>A (p.Gly4504=)
|
|
|
|
NM_001164508.2(NEB):c.13515T>C (p.His4505=)
|
rs2153903552
|
|
|
NM_001164508.2(NEB):c.13518C>T (p.Tyr4506=)
|
rs2153903542
|
|
|
NM_001164508.2(NEB):c.13520T>C (p.Ile4507Thr)
|
rs1553862732
|
|
|
NM_001164508.2(NEB):c.13524C>T (p.Gly4508=)
|
|
|
|
NM_001164508.2(NEB):c.13525del (p.Cys4509fs)
|
rs2097453337
|
|
|
NM_001164508.2(NEB):c.13530C>T (p.Arg4510=)
|
rs2153903504
|
|
|
NM_001164508.2(NEB):c.13533C>T (p.Ser4511=)
|
rs1168966918
|
|
|
NM_001164508.2(NEB):c.13536C>T (p.Ala4512=)
|
rs2153903470
|
|
|
NM_001164508.2(NEB):c.13537A>T (p.Lys4513Ter)
|
rs2097452910
|
|
|
NM_001164508.2(NEB):c.13545C>T (p.Asp4515=)
|
rs2153903432
|
|
|
NM_001164508.2(NEB):c.13548T>A (p.Pro4516=)
|
|
|
|
NM_001164508.2(NEB):c.13548T>C (p.Pro4516=)
|
rs1578803539
|
|
|
NM_001164508.2(NEB):c.13548T>G (p.Pro4516=)
|
rs1578803539
|
|
|
NM_001164508.2(NEB):c.13551A>G (p.Lys4517=)
|
rs1578803460
|
|
|
NM_001164508.2(NEB):c.13551dup (p.Leu4518fs)
|
|
|
|
NM_001164508.2(NEB):c.13552C>T (p.Leu4518=)
|
rs2153903401
|
|
|
NM_001164508.2(NEB):c.13554G>A (p.Leu4518=)
|
|
|
|
NM_001164508.2(NEB):c.13554G>T (p.Leu4518=)
|
|
|
|
NM_001164508.2(NEB):c.13557T>C (p.Val4519=)
|
rs2153903393
|
|
|
NM_001164508.2(NEB):c.13560G>A (p.Trp4520Ter)
|
|
|
|
NM_001164508.2(NEB):c.13563A>G (p.Ala4521=)
|
rs2153903385
|
|
|
NM_001164508.2(NEB):c.13566A>C (p.Ala4522=)
|
rs2153903373
|
|
|
NM_001164508.2(NEB):c.13566A>G (p.Ala4522=)
|
rs2153903373
|
|
|
NM_001164508.2(NEB):c.13569T>C (p.Asn4523=)
|
rs2097452334
|
|
|
NM_001164508.2(NEB):c.1356A>G (p.Gln452=)
|
rs2149359064
|
|
|
NM_001164508.2(NEB):c.13572G>A (p.Val4524=)
|
|
|
|
NM_001164508.2(NEB):c.13572G>T (p.Val4524=)
|
rs2153903355
|
|
|
NM_001164508.2(NEB):c.13573T>C (p.Leu4525=)
|
rs1057523201
|
|
|
NM_001164508.2(NEB):c.13575G>A (p.Leu4525=)
|
rs2153903335
|
|
|
NM_001164508.2(NEB):c.13587T>C (p.Asn4529=)
|
|
|
|
NM_001164508.2(NEB):c.13590C>T (p.Asp4530=)
|
rs2153903319
|
|
|
NM_001164508.2(NEB):c.13591A>C (p.Arg4531=)
|
rs1578803178
|
|
|
NM_001164508.2(NEB):c.13593del (p.Arg4531fs)
|
rs2153903290
|
|
|
NM_001164508.2(NEB):c.13594C>T (p.Leu4532=)
|
rs2153903271
|
|
|
NM_001164508.2(NEB):c.13596G>A (p.Leu4532=)
|
rs886038436
|
|
|
NM_001164508.2(NEB):c.13599C>G (p.Tyr4533Ter)
|
rs2153903239
|
|
|
NM_001164508.2(NEB):c.13599C>T (p.Tyr4533=)
|
|
|
|
NM_001164508.2(NEB):c.1359C>T (p.Asn453=)
|
rs2149359026
|
|
|
NM_001164508.2(NEB):c.13605G>A (p.Lys4535=)
|
|
|
|
NM_001164508.2(NEB):c.13611C>T (p.Tyr4537=)
|
|
|
|
NM_001164508.2(NEB):c.13614C>T (p.Asn4538=)
|
rs1250752053
|
|
|
NM_001164508.2(NEB):c.13617C>T (p.Asp4539=)
|
rs2153903185
|
|
|
NM_001164508.2(NEB):c.13620C>T (p.His4540=)
|
|
|
|
NM_001164508.2(NEB):c.13623A>G (p.Lys4541=)
|
|
|
|
NM_001164508.2(NEB):c.13626C>A (p.Ala4542=)
|
rs201225445
|
|
|
NM_001164508.2(NEB):c.13626C>G (p.Ala4542=)
|
rs201225445
|
|
|
NM_001164508.2(NEB):c.13626C>T (p.Ala4542=)
|
rs201225445
|
|
|
NM_001164508.2(NEB):c.13629G>A (p.Lys4543=)
|
rs2097451170
|
|
|
NM_001164508.2(NEB):c.13631_13634dup (p.Ile4546fs)
|
rs2153903111
|
|
|
NM_001164508.2(NEB):c.13635C>T (p.Ser4545=)
|
|
|
|
NM_001164508.2(NEB):c.13638C>A (p.Ile4546=)
|
rs1225197770
|
|
|
NM_001164508.2(NEB):c.13644G>T (p.Val4548=)
|
rs2153903076
|
|
|
NM_001164508.2(NEB):c.1365+14C>G
|
|
|
|
NM_001164508.2(NEB):c.1365+14C>T
|
|
|
|
NM_001164508.2(NEB):c.1365+15A>G
|
|
|
|
NM_001164508.2(NEB):c.1365+16A>G
|
|
|
|
NM_001164508.2(NEB):c.1365+17T>C
|
|
|
|
NM_001164508.2(NEB):c.1365+1G>T
|
|
|
|
NM_001164508.2(NEB):c.1365+20_1365+23del
|
|
|
|
NM_001164508.2(NEB):c.13651G>A (p.Val4551Met)
|
rs1553862399
|
|
|
NM_001164508.2(NEB):c.13653G>A (p.Val4551=)
|
rs1553862349
|
|
|
NM_001164508.2(NEB):c.13653G>C (p.Val4551=)
|
|
|
|
NM_001164508.2(NEB):c.13653G>T (p.Val4551=)
|
rs1553862349
|
|
|
NM_001164508.2(NEB):c.13656C>A (p.Ser4552=)
|
|
|
|
NM_001164508.2(NEB):c.13656C>T (p.Ser4552=)
|
rs2153903014
|
|
|
NM_001164508.2(NEB):c.1366-11_1366-9del
|
|
|
|
NM_001164508.2(NEB):c.1366-11del
|
rs2149354473
|
|
|
NM_001164508.2(NEB):c.1366-12T>G
|
rs1057523429
|
|
|
NM_001164508.2(NEB):c.1366-13C>T
|
|
|
|
NM_001164508.2(NEB):c.1366-13del
|
|
|
|
NM_001164508.2(NEB):c.1366-16T>C
|
|
|
|
NM_001164508.2(NEB):c.1366-17A>G
|
|
|
|
NM_001164508.2(NEB):c.1366-3T>C
|
|
|
|
NM_001164508.2(NEB):c.1366-4A>G
|
rs886038438
|
|
|
NM_001164508.2(NEB):c.1366-7C>T
|
rs2149354112
|
|
|
NM_001164508.2(NEB):c.1366-7_1366-5del
|
rs1317027054
|
|
|
NM_001164508.2(NEB):c.1366-8C>T
|
rs1054288744
|
|
|
NM_001164508.2(NEB):c.1366-9_1366-8del
|
rs773970341
|
|
|
NM_001164508.2(NEB):c.13662C>T (p.Ser4554=)
|
rs1553862322
|
|
|
NM_001164508.2(NEB):c.13670A>G (p.Lys4557Arg)
|
|
|
|
NM_001164508.2(NEB):c.13677T>C (p.Gly4559=)
|
rs2153902979
|
|
|
NM_001164508.2(NEB):c.13677T>G (p.Gly4559=)
|
|
|
|
NM_001164508.2(NEB):c.13680G>A (p.Gln4560=)
|
rs886038439
|
|
|
NM_001164508.2(NEB):c.13680G>C (p.Gln4560His)
|
rs886038439
|
|
|
NM_001164508.2(NEB):c.13686G>A (p.Leu4562=)
|
|
|
|
NM_001164508.2(NEB):c.13689A>C (p.Ala4563=)
|
rs2153902957
|
|
|
NM_001164508.2(NEB):c.13695T>C (p.Asp4565=)
|
rs2153902950
|
|
|
NM_001164508.2(NEB):c.13698G>A (p.Val4566=)
|
rs2153902941
|
|
|
NM_001164508.2(NEB):c.13701C>T (p.Asp4567=)
|
|
|
|
NM_001164508.2(NEB):c.13704T>A (p.Tyr4568Ter)
|
rs1553862274
|
|
|
NM_001164508.2(NEB):c.13704T>G (p.Tyr4568Ter)
|
|
|
|
NM_001164508.2(NEB):c.13706G>A (p.Arg4569His)
|
rs1216367965
|
|
|
NM_001164508.2(NEB):c.13707C>T (p.Arg4569=)
|
rs2153902912
|
|
|
NM_001164508.2(NEB):c.13710T>C (p.His4570=)
|
rs2153902905
|
|
|
NM_001164508.2(NEB):c.13713C>A (p.Tyr4571Ter)
|
|
|
|
NM_001164508.2(NEB):c.13713C>T (p.Tyr4571=)
|
rs2153902894
|
|
|
NM_001164508.2(NEB):c.13716G>A (p.Leu4572=)
|
|
|
|
NM_001164508.2(NEB):c.13716G>T (p.Leu4572=)
|
|
|
|
NM_001164508.2(NEB):c.13717C>T (p.His4573Tyr)
|
rs1553862206
|
|
|
NM_001164508.2(NEB):c.13719C>T (p.His4573=)
|
rs2153902868
|
|
|
NM_001164508.2(NEB):c.13719_13721delinsTCG (p.His4574Arg)
|
rs2153902861
|
|
|
NM_001164508.2(NEB):c.13722C>T (p.His4574=)
|
rs2153902846
|
|
|
NM_001164508.2(NEB):c.13728T>A (p.Ser4576=)
|
rs2153902833
|
|
|
NM_001164508.2(NEB):c.13728T>G (p.Ser4576=)
|
rs2153902833
|
|
|
NM_001164508.2(NEB):c.1372T>C (p.Tyr458His)
|
rs2149353691
|
|
|
NM_001164508.2(NEB):c.13731C>T (p.Cys4577=)
|
rs2153902820
|
|
|
NM_001164508.2(NEB):c.13734del (p.Asp4580fs)
|
|
|
|
NM_001164508.2(NEB):c.13737C>G (p.Pro4579=)
|
|
|
|
NM_001164508.2(NEB):c.13737C>T (p.Pro4579=)
|
rs1578801445
|
|
|
NM_001164508.2(NEB):c.13743G>A (p.Gln4581=)
|
|
|
|
NM_001164508.2(NEB):c.13746T>C (p.Asn4582=)
|
rs2153902789
|
|
|
NM_001164508.2(NEB):c.13749T>C (p.Asp4583=)
|
rs2153902762
|
|
|
NM_001164508.2(NEB):c.1374C>G (p.Tyr458Ter)
|
|
|
|
NM_001164508.2(NEB):c.13751_13752dup (p.Ile4585Ter)
|
rs2153902749
|
|
|
NM_001164508.2(NEB):c.13753A>G (p.Ile4585Val)
|
rs886038440
|
|
|
NM_001164508.2(NEB):c.13754T>C (p.Ile4585Thr)
|
rs1553862132
|
|
|
NM_001164508.2(NEB):c.13755C>A (p.Ile4585=)
|
|
|
|
NM_001164508.2(NEB):c.13755C>T (p.Ile4585=)
|
rs2153902709
|
|
|
NM_001164508.2(NEB):c.13756C>T (p.Gln4586Ter)
|
rs1560283028
|
|
|
NM_001164508.2(NEB):c.13761C>T (p.Ala4587=)
|
rs2153902680
|
|
|
NM_001164508.2(NEB):c.13761del (p.Arg4588fs)
|
|
|
|
NM_001164508.2(NEB):c.13762A>C (p.Arg4588=)
|
|
|
|
NM_001164508.2(NEB):c.13773C>A (p.Tyr4591Ter)
|
rs1553862114
|
|
|
NM_001164508.2(NEB):c.13773C>T (p.Tyr4591=)
|
rs1553862114
|
|
|
NM_001164508.2(NEB):c.13776C>T (p.Asp4592=)
|
rs2153902632
|
|
|
NM_001164508.2(NEB):c.13777del (p.Leu4593fs)
|
|
|
|
NM_001164508.2(NEB):c.13780C>T (p.Gln4594Ter)
|
rs2097449114
|
|
|
NM_001164508.2(NEB):c.13782G>A (p.Gln4594=)
|
rs2153902580
|
|
|
NM_001164508.2(NEB):c.13785C>T (p.Ser4595=)
|
rs1578800572
|
|
|
NM_001164508.2(NEB):c.13788+10T>C
|
rs2153902503
|
|
|
NM_001164508.2(NEB):c.13788+11C>G
|
|
|
|
NM_001164508.2(NEB):c.13788+11C>T
|
|
|
|
NM_001164508.2(NEB):c.13788+12C>A
|
|
|
|
NM_001164508.2(NEB):c.13788+13C>T
|
|
|
|
NM_001164508.2(NEB):c.13788+14C>T
|
|
|
|
NM_001164508.2(NEB):c.13788+15C>T
|
|
|
|
NM_001164508.2(NEB):c.13788+15del
|
|
|
|
NM_001164508.2(NEB):c.13788+17G>A
|
|
|
|
NM_001164508.2(NEB):c.13788+18G>A
|
rs1057523329
|
|
|
NM_001164508.2(NEB):c.13788+1G>A
|
rs1553862061
|
|
|
NM_001164508.2(NEB):c.13788+1G>C
|
rs1553862061
|
|
|
NM_001164508.2(NEB):c.13788+2dup
|
rs2153902530
|
|
|
NM_001164508.2(NEB):c.13788+9_13788+12delinsATCG
|
rs2153902431
|
|
|
NM_001164508.2(NEB):c.13788+9_13788+12delinsCG
|
rs2153902466
|
|
|
NM_001164508.2(NEB):c.1387G>A (p.Glu463Lys)
|
|
|
|
NM_001164508.2(NEB):c.1394A>G (p.Asp465Gly)
|
|
|
|
NM_001164508.2(NEB):c.1396A>G (p.Arg466Gly)
|
|
|
|
NM_001164508.2(NEB):c.139A>G (p.Thr47Ala)
|
|
|
|
NM_001164508.2(NEB):c.1405G>T (p.Gly469Cys)
|
|
|
|
NM_001164508.2(NEB):c.1406G>C (p.Gly469Ala)
|
|
|
|
NM_001164508.2(NEB):c.1409T>G (p.Phe470Cys)
|
|
|
|
NM_001164508.2(NEB):c.1411T>C (p.Phe471Leu)
|
|
|
|
NM_001164508.2(NEB):c.1416T>G (p.Pro472=)
|
rs2149352479
|
|
|
NM_001164508.2(NEB):c.1417C>T (p.Gln473Ter)
|
|
|
|
NM_001164508.2(NEB):c.1419G>A (p.Gln473=)
|
|
|
|
NM_001164508.2(NEB):c.1419G>T (p.Gln473His)
|
rs761722604
|
|
|
NM_001164508.2(NEB):c.1422C>A (p.Thr474=)
|
|
|
|
NM_001164508.2(NEB):c.1422C>T (p.Thr474=)
|
rs376008654
|
|
|
NM_001164508.2(NEB):c.1428T>C (p.Thr476=)
|
rs1265121813
|
|
|
NM_001164508.2(NEB):c.1434A>G (p.Glu478=)
|
rs2149351968
|
|
|
NM_001164508.2(NEB):c.1437T>C (p.Tyr479=)
|
rs2149351922
|
|
|
NM_001164508.2(NEB):c.1444A>G (p.Ile482Val)
|
rs945055152
|
|
|
NM_001164508.2(NEB):c.1453C>T (p.Leu485=)
|
|
|
|
NM_001164508.2(NEB):c.1455A>G (p.Leu485=)
|
|
|
|
NM_001164508.2(NEB):c.1459C>T (p.Gln487Ter)
|
|
|
|
NM_001164508.2(NEB):c.1460A>T (p.Gln487Leu)
|
|
|
|
NM_001164508.2(NEB):c.1461G>T (p.Gln487His)
|
|
|
|
NM_001164508.2(NEB):c.1462T>A (p.Cys488Ser)
|
rs749228422
|
|
|
NM_001164508.2(NEB):c.1470+11A>G
|
|
|
|
NM_001164508.2(NEB):c.1470+15T>C
|
|
|
|
NM_001164508.2(NEB):c.1470+17A>G
|
|
|
|
NM_001164508.2(NEB):c.1470+17A>T
|
|
|
|
NM_001164508.2(NEB):c.1470+1G>C
|
rs1220787593
|
|
|
NM_001164508.2(NEB):c.1470+7C>A
|
|
|
|
NM_001164508.2(NEB):c.1470+8T>G
|
|
|
|
NM_001164508.2(NEB):c.1470+9G>A
|
rs1387821584
|
|
|
NM_001164508.2(NEB):c.1471-10T>C
|
|
|
|
NM_001164508.2(NEB):c.1471-11del
|
|
|
|
NM_001164508.2(NEB):c.1471-15T>C
|
|
|
|
NM_001164508.2(NEB):c.1471-16C>A
|
|
|
|
NM_001164508.2(NEB):c.1471-16C>G
|
|
|
|
NM_001164508.2(NEB):c.1471-17C>T
|
|
|
|
NM_001164508.2(NEB):c.1471-18G>T
|
|
|
|
NM_001164508.2(NEB):c.1471-3C>T
|
|
|
|
NM_001164508.2(NEB):c.1471-4A>G
|
rs2149336377
|
|
|
NM_001164508.2(NEB):c.1471-6C>T
|
rs1176788819
|
|
|
NM_001164508.2(NEB):c.1473C>T (p.His491=)
|
|
|
|
NM_001164508.2(NEB):c.1476C>T (p.Thr492=)
|
rs761741250
|
|
|
NM_001164508.2(NEB):c.1482A>C (p.Lys494Asn)
|
|
|
|
NM_001164508.2(NEB):c.1485C>T (p.Val495=)
|
rs2149335902
|
|
|
NM_001164508.2(NEB):c.1506C>T (p.Phe502=)
|
|
|
|
NM_001164508.2(NEB):c.1509C>T (p.Thr503=)
|
|
|
|
NM_001164508.2(NEB):c.1525C>T (p.Pro509Ser)
|
|
|
|
NM_001164508.2(NEB):c.1526del (p.Pro509fs)
|
rs1181351466
|
|
|
NM_001164508.2(NEB):c.1529_1533del (p.Val510fs)
|
rs2099599008
|
|
|
NM_001164508.2(NEB):c.1531C>G (p.Leu511Val)
|
|
|
|
NM_001164508.2(NEB):c.1531C>T (p.Leu511=)
|
|
|
|
NM_001164508.2(NEB):c.1535T>A (p.Leu512Gln)
|
rs2099599001
|
|
|
NM_001164508.2(NEB):c.1536A>C (p.Leu512=)
|
|
|
|
NM_001164508.2(NEB):c.1536A>G (p.Leu512=)
|
|
|
|
NM_001164508.2(NEB):c.1537C>T (p.Gln513Ter)
|
rs1171781332
|
|
|
NM_001164508.2(NEB):c.1538A>G (p.Gln513Arg)
|
|
|
|
NM_001164508.2(NEB):c.153T>A (p.Ala51=)
|
rs940439703
|
|
|
NM_001164508.2(NEB):c.153T>C (p.Ala51=)
|
|
|
|
NM_001164508.2(NEB):c.153_167del (p.52LAQPA[1])
|
rs757726895
|
|
|
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3])
|
rs757726895
|
|
|
NM_001164508.2(NEB):c.1541C>G (p.Ala514Gly)
|
|
|
|
NM_001164508.2(NEB):c.1545A>C (p.Gln515His)
|
|
|
|
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1])
|
rs377452683
|
|
|
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3])
|
rs377452683
|
|
|
NM_001164508.2(NEB):c.1555A>T (p.Lys519Ter)
|
|
|
|
NM_001164508.2(NEB):c.1557A>G (p.Lys519=)
|
|
|
|
NM_001164508.2(NEB):c.1558C>T (p.Gln520Ter)
|
rs757999917
|
|
|
NM_001164508.2(NEB):c.155T>G (p.Leu52Arg)
|
|
|
|
NM_001164508.2(NEB):c.1566T>C (p.Ser522=)
|
rs2149333531
|
|
|
NM_001164508.2(NEB):c.1568dup (p.Asp523fs)
|
|
|
|
NM_001164508.2(NEB):c.1569+11C>G
|
|
|
|
NM_001164508.2(NEB):c.1569+12T>C
|
|
|
|
NM_001164508.2(NEB):c.1569+13A>G
|
|
|
|
NM_001164508.2(NEB):c.1569+15C>G
|
|
|
|
NM_001164508.2(NEB):c.1569+15C>T
|
|
|
|
NM_001164508.2(NEB):c.1569+16T>A
|
|
|
|
NM_001164508.2(NEB):c.1569+1G>A
|
rs1553605553
|
|
|
NM_001164508.2(NEB):c.1569+1G>C
|
|
|
|
NM_001164508.2(NEB):c.1569+3A>T
|
rs1576671314
|
|
|
NM_001164508.2(NEB):c.1569+8C>A
|
|
|
|
NM_001164508.2(NEB):c.1569+8C>T
|
rs2099598770
|
|
|
NM_001164508.2(NEB):c.1570-11C>G
|
|
|
|
NM_001164508.2(NEB):c.1570-12T>C
|
|
|
|
NM_001164508.2(NEB):c.1570-13C>T
|
|
|
|
NM_001164508.2(NEB):c.1570-15C>T
|
|
|
|
NM_001164508.2(NEB):c.1570-1G>C
|
rs1390328608
|
|
|
NM_001164508.2(NEB):c.1570-2A>G
|
rs1553603958
|
|
|
NM_001164508.2(NEB):c.1570-4A>G
|
rs752643338
|
|
|
NM_001164508.2(NEB):c.1570-5C>T
|
|
|
|
NM_001164508.2(NEB):c.1570-7G>C
|
rs1576637428
|
|
|
NM_001164508.2(NEB):c.1576T>C (p.Tyr526His)
|
|
|
|
NM_001164508.2(NEB):c.1580A>G (p.Lys527Arg)
|
rs773132178
|
|
|
NM_001164508.2(NEB):c.1585A>G (p.Lys529Glu)
|
|
|
|
NM_001164508.2(NEB):c.1587A>G (p.Lys529=)
|
|
|
|
NM_001164508.2(NEB):c.1590T>C (p.His530=)
|
|
|
|
NM_001164508.2(NEB):c.1593A>G (p.Glu531=)
|
rs2149300514
|
|
|
NM_001164508.2(NEB):c.1596T>C (p.Ser532=)
|
|
|
|
NM_001164508.2(NEB):c.1602G>A (p.Lys534=)
|
|
|
|
NM_001164508.2(NEB):c.1605del (p.Phe535fs)
|
|
|
|
NM_001164508.2(NEB):c.1610G>A (p.Cys537Tyr)
|
rs935982815
|
|
|
NM_001164508.2(NEB):c.1618C>G (p.Pro540Ala)
|
rs1271816542
|
|
|
NM_001164508.2(NEB):c.1620C>G (p.Pro540=)
|
rs776014034
|
|
|
NM_001164508.2(NEB):c.1622C>G (p.Pro541Arg)
|
|
|
|
NM_001164508.2(NEB):c.1623del (p.Asp542fs)
|
rs772366030
|
|
|
NM_001164508.2(NEB):c.1624G>T (p.Asp542Tyr)
|
|
|
|
NM_001164508.2(NEB):c.1626T>C (p.Asp542=)
|
|
|
|
NM_001164508.2(NEB):c.1629T>C (p.Thr543=)
|
|
|
|
NM_001164508.2(NEB):c.1632T>C (p.Pro544=)
|
|
|
|
NM_001164508.2(NEB):c.1641C>T (p.Ile547=)
|
rs778381002
|
|
|
NM_001164508.2(NEB):c.1644G>A (p.Gln548=)
|
rs2149298942
|
|
|
NM_001164508.2(NEB):c.1649_1650del (p.Lys550fs)
|
|
|
|
NM_001164508.2(NEB):c.1650A>G (p.Lys550=)
|
|
|
|
NM_001164508.2(NEB):c.1654A>G (p.Asn552Asp)
|
rs2099590400
|
|
|
NM_001164508.2(NEB):c.1659_1662dup (p.Asn555delinsLeuTer)
|
|
|
|
NM_001164508.2(NEB):c.1661A>G (p.Tyr554Cys)
|
|
|
|
NM_001164508.2(NEB):c.1665C>T (p.Asn555=)
|
|
|
|
NM_001164508.2(NEB):c.1668G>A (p.Leu556=)
|
rs2149298109
|
|
|
NM_001164508.2(NEB):c.16705-14G>A
|
|
|
|
NM_001164508.2(NEB):c.16705-14_16705-13del
|
|
|
|
NM_001164508.2(NEB):c.16705-16G>A
|
|
|
|
NM_001164508.2(NEB):c.16705-18C>A
|
|
|
|
NM_001164508.2(NEB):c.16705-18C>G
|
|
|
|
NM_001164508.2(NEB):c.16705-24_16705-19del
|
|
|
|
NM_001164508.2(NEB):c.16705-5T>G
|
|
|
|
NM_001164508.2(NEB):c.16707C>T (p.Ala5569=)
|
rs2096826749
|
|
|
NM_001164508.2(NEB):c.16707_16710dup (p.Tyr5571fs)
|
rs2153808894
|
|
|
NM_001164508.2(NEB):c.16708C>T (p.Leu5570Phe)
|
|
|
|
NM_001164508.2(NEB):c.16719T>C (p.Ala5573=)
|
rs2153808873
|
|
|
NM_001164508.2(NEB):c.16722C>T (p.Asp5574=)
|
rs1220652604
|
|
|
NM_001164508.2(NEB):c.16725G>T (p.Leu5575Phe)
|
rs2153808846
|
|
|
NM_001164508.2(NEB):c.16736G>A (p.Arg5579His)
|
|
|
|
NM_001164508.2(NEB):c.16737T>C (p.Arg5579=)
|
|
|
|
NM_001164508.2(NEB):c.1674+13T>A
|
|
|
|
NM_001164508.2(NEB):c.1674+13T>C
|
|
|
|
NM_001164508.2(NEB):c.1674+14G>A
|
|
|
|
NM_001164508.2(NEB):c.1674+15C>T
|
|
|
|
NM_001164508.2(NEB):c.1674+16_1674+18del
|
|
|
|
NM_001164508.2(NEB):c.1674+1G>A
|
rs750585238
|
|
|
NM_001164508.2(NEB):c.1674+2T>C
|
rs1553603437
|
|
|
NM_001164508.2(NEB):c.1674+2T>G
|
|
|
|
NM_001164508.2(NEB):c.1674+3A>C
|
rs2099590253
|
|
|
NM_001164508.2(NEB):c.1674+9C>A
|
rs762129201
|
|
|
NM_001164508.2(NEB):c.1674+9C>T
|
rs762129201
|
|
|
NM_001164508.2(NEB):c.16746C>G (p.Gly5582=)
|
rs1437705900
|
|
|
NM_001164508.2(NEB):c.1674T>C (p.Asp558=)
|
rs376597690
|
|
|
NM_001164508.2(NEB):c.1675-11T>G
|
|
|
|
NM_001164508.2(NEB):c.1675-14A>T
|
|
|
|
NM_001164508.2(NEB):c.1675-15A>G
|
|
|
|
NM_001164508.2(NEB):c.1675-2A>G
|
|
|
|
NM_001164508.2(NEB):c.1675-7del
|
rs749876066
|
|
|
NM_001164508.2(NEB):c.1675-8_1675-7del
|
rs749876066
|
|
|
NM_001164508.2(NEB):c.1675-9T>C
|
rs75118047
|
|
|
NM_001164508.2(NEB):c.16761G>A (p.Gly5587=)
|
rs2153808696
|
|
|
NM_001164508.2(NEB):c.16764T>A (p.Ser5588=)
|
rs2153808672
|
|
|
NM_001164508.2(NEB):c.16765C>T (p.Pro5589Ser)
|
rs1490534583
|
|
|
NM_001164508.2(NEB):c.1676del (p.Asn559fs)
|
rs1576600442
|
|
|
NM_001164508.2(NEB):c.16773G>A (p.Val5591=)
|
rs2153808622
|
|
|
NM_001164508.2(NEB):c.16774T>C (p.Leu5592=)
|
rs1427467881
|
|
|
NM_001164508.2(NEB):c.16776G>A (p.Leu5592=)
|
|
|
|
NM_001164508.2(NEB):c.16779del (p.Val5594fs)
|
|
|
|
NM_001164508.2(NEB):c.16780G>A (p.Val5594Ile)
|
|
|
|
NM_001164508.2(NEB):c.16782C>A (p.Val5594=)
|
rs200335438
|
|
|
NM_001164508.2(NEB):c.16782C>T (p.Val5594=)
|
|
|
|
NM_001164508.2(NEB):c.16789G>A (p.Ala5597Thr)
|
rs749713442
|
|
|
NM_001164508.2(NEB):c.16789G>T (p.Ala5597Ser)
|
rs749713442
|
|
|
NM_001164508.2(NEB):c.16792C>A (p.Gln5598Lys)
|
|
|
|
NM_001164508.2(NEB):c.16800C>T (p.Ile5600=)
|
|
|
|
NM_001164508.2(NEB):c.16803T>C (p.Phe5601=)
|
rs2096824509
|
|
|
NM_001164508.2(NEB):c.16803_16804del (p.Phe5601fs)
|
rs2153808479
|
|
|
NM_001164508.2(NEB):c.16806T>C (p.Cys5602=)
|
rs2153808470
|
|
|
NM_001164508.2(NEB):c.16819C>T (p.Arg5607Trp)
|
|
|
|
NM_001164508.2(NEB):c.16820G>A (p.Arg5607Gln)
|
|
|
|
NM_001164508.2(NEB):c.16824G>A (p.Thr5608=)
|
|
|
|
NM_001164508.2(NEB):c.16826C>G (p.Pro5609Arg)
|
|
|
|
NM_001164508.2(NEB):c.16830G>C (p.Val5610=)
|
rs2153808322
|
|
|
NM_001164508.2(NEB):c.16837C>G (p.Leu5613Val)
|
|
|
|
NM_001164508.2(NEB):c.1684A>G (p.Lys562Glu)
|
|
|
|
NM_001164508.2(NEB):c.16856T>C (p.Val5619Ala)
|
|
|
|
NM_001164508.2(NEB):c.16862C>T (p.Thr5621Ile)
|
|
|
|
NM_001164508.2(NEB):c.16881T>C (p.Ala5627=)
|
rs2153808196
|
|
|
NM_001164508.2(NEB):c.16893T>G (p.Ala5631=)
|
|
|
|
NM_001164508.2(NEB):c.168A>C (p.Ala56=)
|
|
|
|
NM_001164508.2(NEB):c.168A>G (p.Ala56=)
|
rs200297299
|
|
|
NM_001164508.2(NEB):c.16901T>C (p.Ile5634Thr)
|
|
|
|
NM_001164508.2(NEB):c.16908+15dup
|
|
|
|
NM_001164508.2(NEB):c.16908+16del
|
|
|
|
NM_001164508.2(NEB):c.16908+17C>G
|
|
|
|
NM_001164508.2(NEB):c.16908+3_16908+6del
|
|
|
|
NM_001164508.2(NEB):c.16909-16T>C
|
|
|
|
NM_001164508.2(NEB):c.16909-6C>A
|
|
|
|
NM_001164508.2(NEB):c.16909-6C>T
|
rs2153806550
|
|
|
NM_001164508.2(NEB):c.16911A>T (p.Pro5637=)
|
|
|
|
NM_001164508.2(NEB):c.16917C>T (p.Tyr5639=)
|
|
|
|
NM_001164508.2(NEB):c.16920A>G (p.Arg5640=)
|
rs2153806479
|
|
|
NM_001164508.2(NEB):c.16923G>A (p.Glu5641=)
|
rs764012894
|
|
|
NM_001164508.2(NEB):c.16926T>C (p.Val5642=)
|
rs2153806452
|
|
|
NM_001164508.2(NEB):c.16932C>A (p.Asp5644Glu)
|
|
|
|
NM_001164508.2(NEB):c.16949T>C (p.Ile5650Thr)
|
rs202009284
|
|
|
NM_001164508.2(NEB):c.16954A>T (p.Ile5652Leu)
|
rs767425744
|
|
|
NM_001164508.2(NEB):c.16957A>T (p.Met5653Leu)
|
|
|
|
NM_001164508.2(NEB):c.16962A>G (p.Pro5654=)
|
|
|
|
NM_001164508.2(NEB):c.16966A>T (p.Thr5656Ser)
|
|
|
|
NM_001164508.2(NEB):c.16968T>C (p.Thr5656=)
|
|
|
|
NM_001164508.2(NEB):c.16968T>G (p.Thr5656=)
|
rs2153806332
|
|
|
NM_001164508.2(NEB):c.1696G>A (p.Glu566Lys)
|
|
|
|
NM_001164508.2(NEB):c.16991C>A (p.Ala5664Glu)
|
|
|
|
NM_001164508.2(NEB):c.16994A>C (p.Asn5665Thr)
|
rs2153806253
|
|
|
NM_001164508.2(NEB):c.1700A>T (p.Lys567Met)
|
rs1360278350
|
|
|
NM_001164508.2(NEB):c.17010C>T (p.Ser5670=)
|
rs1578230471
|
|
|
NM_001164508.2(NEB):c.17012A>G (p.Asn5671Ser)
|
rs1390168520
|
|
|
NM_001164508.2(NEB):c.17013+10A>C
|
rs2153806149
|
|
|
NM_001164508.2(NEB):c.17013+19T>C
|
|
|
|
NM_001164508.2(NEB):c.17013+20C>G
|
|
|
|
NM_001164508.2(NEB):c.17014-11C>A
|
|
|
|
NM_001164508.2(NEB):c.17014-16T>G
|
|
|
|
NM_001164508.2(NEB):c.17014-20C>T
|
|
|
|
NM_001164508.2(NEB):c.17018T>G (p.Leu5673Arg)
|
rs2096589517
|
|
|
NM_001164508.2(NEB):c.17019_17020del (p.Tyr5674fs)
|
|
|
|
NM_001164508.2(NEB):c.1701G>A (p.Lys567=)
|
|
|
|
NM_001164508.2(NEB):c.17023C>G (p.Arg5675Gly)
|
rs547231033
|
|
|
NM_001164508.2(NEB):c.17031C>T (p.Gly5677=)
|
rs143684640
|
|
|
NM_001164508.2(NEB):c.17036A>T (p.Asp5679Val)
|
|
|
|
NM_001164508.2(NEB):c.17038G>A (p.Glu5680Lys)
|
|
|
|
NM_001164508.2(NEB):c.17046G>A (p.Lys5682=)
|
|
|
|
NM_001164508.2(NEB):c.17047G>A (p.Ala5683Thr)
|
|
|
|
NM_001164508.2(NEB):c.17049G>A (p.Ala5683=)
|
rs140688592
|
|
|
NM_001164508.2(NEB):c.17054G>C (p.Cys5685Ser)
|
|
|
|
NM_001164508.2(NEB):c.17055T>C (p.Cys5685=)
|
rs2153764831
|
|
|
NM_001164508.2(NEB):c.17063G>A (p.Arg5688Gln)
|
|
|
|
NM_001164508.2(NEB):c.17063G>T (p.Arg5688Leu)
|
|
|
|
NM_001164508.2(NEB):c.17067G>A (p.Leu5689=)
|
|
|
|
NM_001164508.2(NEB):c.17067G>T (p.Leu5689=)
|
rs772503328
|
|
|
NM_001164508.2(NEB):c.17069A>G (p.Asp5690Gly)
|
|
|
|
NM_001164508.2(NEB):c.17078C>T (p.Pro5693Leu)
|
rs2096588016
|
|
|
NM_001164508.2(NEB):c.17079C>G (p.Pro5693=)
|
rs1348731684
|
|
|
NM_001164508.2(NEB):c.17079C>T (p.Pro5693=)
|
rs1348731684
|
|
|
NM_001164508.2(NEB):c.17082C>A (p.Ile5694=)
|
rs770579997
|
|
|
NM_001164508.2(NEB):c.17091C>A (p.Ala5697=)
|
rs2153764198
|
|
|
NM_001164508.2(NEB):c.17091_17094dup (p.Ala5699fs)
|
|
|
|
NM_001164508.2(NEB):c.17101dup (p.Arg5701fs)
|
|
|
|
NM_001164508.2(NEB):c.17103G>A (p.Arg5701=)
|
rs1414276838
|
|
|
NM_001164508.2(NEB):c.17106G>A (p.Glu5702=)
|
|
|
|
NM_001164508.2(NEB):c.17118+11T>A
|
|
|
|
NM_001164508.2(NEB):c.17118+15T>A
|
|
|
|
NM_001164508.2(NEB):c.17118+15_17118+16del
|
|
|
|
NM_001164508.2(NEB):c.17118+16T>C
|
|
|
|
NM_001164508.2(NEB):c.17118+8G>C
|
|
|
|
NM_001164508.2(NEB):c.17118C>A (p.Asp5706Glu)
|
rs769476760
|
|
|
NM_001164508.2(NEB):c.17119-15T>C
|
|
|
|
NM_001164508.2(NEB):c.17119-21_17119-5del
|
rs2153759284
|
|
|
NM_001164508.2(NEB):c.17119-4C>G
|
rs1161116603
|
|
|
NM_001164508.2(NEB):c.17119-6C>T
|
rs2096581571
|
|
|
NM_001164508.2(NEB):c.17119-7T>C
|
|
|
|
NM_001164508.2(NEB):c.17119-8A>T
|
rs1171189923
|
|
|
NM_001164508.2(NEB):c.17119-9C>T
|
rs2153759606
|
|
|
NM_001164508.2(NEB):c.17135A>G (p.Asp5712Gly)
|
|
|
|
NM_001164508.2(NEB):c.17139T>C (p.His5713=)
|
rs1287758552
|
|
|
NM_001164508.2(NEB):c.17154A>G (p.Gly5718=)
|
|
|
|
NM_001164508.2(NEB):c.17155C>A (p.His5719Asn)
|
|
|
|
NM_001164508.2(NEB):c.17157C>T (p.His5719=)
|
|
|
|
NM_001164508.2(NEB):c.17163G>A (p.Val5721=)
|
|
|
|
NM_001164508.2(NEB):c.17166C>T (p.Gly5722=)
|
|
|
|
NM_001164508.2(NEB):c.17168C>T (p.Thr5723Ile)
|
|
|
|
NM_001164508.2(NEB):c.17169C>T (p.Thr5723=)
|
|
|
|
NM_001164508.2(NEB):c.17173A>C (p.Thr5725Pro)
|
rs2096580140
|
|
|
NM_001164508.2(NEB):c.17174C>T (p.Thr5725Ile)
|
|
|
|
NM_001164508.2(NEB):c.17183A>G (p.Asp5728Gly)
|
rs756098317
|
|
|
NM_001164508.2(NEB):c.17188A>G (p.Asn5730Asp)
|
|
|
|
NM_001164508.2(NEB):c.17189A>G (p.Asn5730Ser)
|
|
|
|
NM_001164508.2(NEB):c.17190C>T (p.Asn5730=)
|
|
|
|
NM_001164508.2(NEB):c.17196_17200del (p.Ile5732fs)
|
rs1578011278
|
|
|
NM_001164508.2(NEB):c.17198G>A (p.Arg5733His)
|
rs371681892
|
|
|
NM_001164508.2(NEB):c.17198G>T (p.Arg5733Leu)
|
rs371681892
|
|
|
NM_001164508.2(NEB):c.17199C>T (p.Arg5733=)
|
rs2153756702
|
|
|
NM_001164508.2(NEB):c.17223C>T (p.Leu5741=)
|
|
|
|
NM_001164508.2(NEB):c.17224C>T (p.Gln5742Ter)
|
rs2153755942
|
|
|
NM_001164508.2(NEB):c.17228A>G (p.Asn5743Ser)
|
rs1022255644
|
|
|
NM_001164508.2(NEB):c.17233C>A (p.Arg5745=)
|
|
|
|
NM_001164508.2(NEB):c.17233C>T (p.Arg5745Ter)
|
rs1427371913
|
|
|
NM_001164508.2(NEB):c.17234G>A (p.Arg5745Gln)
|
rs773556106
|
|
|
NM_001164508.2(NEB):c.17242del (p.Arg5748fs)
|
|
|
|
NM_001164508.2(NEB):c.1724T>C (p.Ile575Thr)
|
|
|
|
NM_001164508.2(NEB):c.17250C>T (p.Asp5750=)
|
|
|
|
NM_001164508.2(NEB):c.17251T>G (p.Trp5751Gly)
|
rs2096578090
|
|
|
NM_001164508.2(NEB):c.17256C>T (p.Ala5752=)
|
rs2153754860
|
|
|
NM_001164508.2(NEB):c.17258A>G (p.Lys5753Arg)
|
rs2153754800
|
|
|
NM_001164508.2(NEB):c.17265G>A (p.Lys5755=)
|
rs2153754655
|
|
|
NM_001164508.2(NEB):c.17271G>A (p.Lys5757=)
|
|
|
|
NM_001164508.2(NEB):c.17276A>G (p.Gln5759Arg)
|
|
|
|
NM_001164508.2(NEB):c.17277G>C (p.Gln5759His)
|
|
|
|
NM_001164508.2(NEB):c.17281C>G (p.Pro5761Ala)
|
rs2153753928
|
|
|
NM_001164508.2(NEB):c.17289C>T (p.Asp5763=)
|
|
|
|
NM_001164508.2(NEB):c.1728A>G (p.Lys576=)
|
rs2149262618
|
|
|
NM_001164508.2(NEB):c.17297C>T (p.Ser5766Phe)
|
rs745836611
|
|
|
NM_001164508.2(NEB):c.17298C>T (p.Ser5766=)
|
|
|
|
NM_001164508.2(NEB):c.1729G>A (p.Val577Met)
|
rs1419317928
|
|
|
NM_001164508.2(NEB):c.17302C>T (p.Leu5768=)
|
|
|
|
NM_001164508.2(NEB):c.17310del (p.Asn5772fs)
|
|
|
|
NM_001164508.2(NEB):c.17325T>C (p.Ala5775=)
|
rs375534633
|
|
|
NM_001164508.2(NEB):c.17328G>C (p.Leu5776=)
|
|
|
|
NM_001164508.2(NEB):c.17328G>T (p.Leu5776=)
|
|
|
|
NM_001164508.2(NEB):c.1732del (p.Asp578fs)
|
|
|
|
NM_001164508.2(NEB):c.17333G>A (p.Ser5778Asn)
|
rs2153752911
|
|
|
NM_001164508.2(NEB):c.17334T>C (p.Ser5778=)
|
rs372247757
|
|
|
NM_001164508.2(NEB):c.17341G>C (p.Asp5781His)
|
rs897368602
|
|
|
NM_001164508.2(NEB):c.17341G>T (p.Asp5781Tyr)
|
|
|
|
NM_001164508.2(NEB):c.17348G>A (p.Arg5783His)
|
|
|
|
NM_001164508.2(NEB):c.17349C>G (p.Arg5783=)
|
rs2153752810
|
|
|
NM_001164508.2(NEB):c.17355C>A (p.Tyr5785Ter)
|
|
|
|
NM_001164508.2(NEB):c.17355C>T (p.Tyr5785=)
|
rs1578007148
|
|
|
NM_001164508.2(NEB):c.17356C>T (p.Leu5786=)
|
rs1578007071
|
|
|
NM_001164508.2(NEB):c.17358G>A (p.Leu5786=)
|
|
|
|
NM_001164508.2(NEB):c.17367G>C (p.Trp5789Cys)
|
|
|
|
NM_001164508.2(NEB):c.17373C>A (p.Cys5791Ter)
|
rs2153752710
|
|
|
NM_001164508.2(NEB):c.17373C>T (p.Cys5791=)
|
|
|
|
NM_001164508.2(NEB):c.17377C>T (p.Pro5793Ser)
|
|
|
|
NM_001164508.2(NEB):c.17394G>A (p.Val5798=)
|
rs1578005646
|
|
|
NM_001164508.2(NEB):c.17396T>C (p.Ile5799Thr)
|
rs1262861131
|
|
|
NM_001164508.2(NEB):c.17400G>A (p.Gln5800=)
|
|
|
|
NM_001164508.2(NEB):c.17404AAG[1] (p.Lys5803del)
|
rs1553787578
|
|
|
NM_001164508.2(NEB):c.17408A>C (p.Lys5803Thr)
|
|
|
|
NM_001164508.2(NEB):c.17415C>A (p.Tyr5805Ter)
|
rs555516831
|
|
|
NM_001164508.2(NEB):c.1741C>T (p.Pro581Ser)
|
|
|
|
NM_001164508.2(NEB):c.17421G>A (p.Leu5807=)
|
rs2153752381
|
|
|
NM_001164508.2(NEB):c.17423_17427del (p.Gln5808fs)
|
|
|
|
NM_001164508.2(NEB):c.17430+10C>A
|
|
|
|
NM_001164508.2(NEB):c.17430+12G>A
|
|
|
|
NM_001164508.2(NEB):c.17430+14A>G
|
|
|
|
NM_001164508.2(NEB):c.17430+17T>C
|
|
|
|
NM_001164508.2(NEB):c.17430+19G>A
|
|
|
|
NM_001164508.2(NEB):c.17430+20G>T
|
|
|
|
NM_001164508.2(NEB):c.17430+7G>A
|
rs1578003936
|
|
|
NM_001164508.2(NEB):c.17430+7G>C
|
rs1578003936
|
|
|
NM_001164508.2(NEB):c.17430+8_17430+9del
|
rs764902371
|
|
|
NM_001164508.2(NEB):c.17430+9G>A
|
rs780361098
|
|
|
NM_001164508.2(NEB):c.17430dup (p.Asn5811Ter)
|
|
|
|
NM_001164508.2(NEB):c.17431-10G>A
|
rs2153749738
|
|
|
NM_001164508.2(NEB):c.17431-16G>A
|
|
|
|
NM_001164508.2(NEB):c.17431-19T>C
|
|
|
|
NM_001164508.2(NEB):c.17431-2A>T
|
|
|
|
NM_001164508.2(NEB):c.17431-5C>T
|
rs1330992333
|
|
|
NM_001164508.2(NEB):c.17433T>C (p.Asn5811=)
|
rs371499917
|
|
|
NM_001164508.2(NEB):c.17439C>T (p.Tyr5813=)
|
rs2096546636
|
|
|
NM_001164508.2(NEB):c.17452G>C (p.Glu5818Gln)
|
rs1193153766
|
|
|
NM_001164508.2(NEB):c.17463T>C (p.Arg5821=)
|
rs2153749667
|
|
|
NM_001164508.2(NEB):c.17463T>G (p.Arg5821=)
|
|
|
|
NM_001164508.2(NEB):c.17468T>C (p.Ile5823Thr)
|
rs768866431
|
|
|
NM_001164508.2(NEB):c.17469T>C (p.Ile5823=)
|
rs2153749642
|
|
|
NM_001164508.2(NEB):c.17472G>A (p.Gly5824=)
|
|
|
|
NM_001164508.2(NEB):c.17479C>T (p.Pro5827Ser)
|
rs1560050173
|
|
|
NM_001164508.2(NEB):c.17481A>G (p.Pro5827=)
|
|
|
|
NM_001164508.2(NEB):c.17491G>A (p.Val5831Met)
|
rs772168965
|
|
|
NM_001164508.2(NEB):c.17491G>T (p.Val5831Leu)
|
|
|
|
NM_001164508.2(NEB):c.17493G>A (p.Val5831=)
|
rs1577971928
|
|
|
NM_001164508.2(NEB):c.17498T>C (p.Val5833Ala)
|
|
|
|
NM_001164508.2(NEB):c.17499C>G (p.Val5833=)
|
rs2096545394
|
|
|
NM_001164508.2(NEB):c.174A>G (p.Ala58=)
|
rs762014753
|
|
|
NM_001164508.2(NEB):c.17501A>G (p.Asn5834Ser)
|
|
|
|
NM_001164508.2(NEB):c.17503C>G (p.His5835Asp)
|
|
|
|
NM_001164508.2(NEB):c.17505T>C (p.His5835=)
|
rs2153749540
|
|
|
NM_001164508.2(NEB):c.17508C>T (p.Ala5836=)
|
|
|
|
NM_001164508.2(NEB):c.1750G>T (p.Ala584Ser)
|
|
|
|
NM_001164508.2(NEB):c.17517C>G (p.Ala5839=)
|
rs369433731
|
|
|
NM_001164508.2(NEB):c.17517C>T (p.Ala5839=)
|
rs369433731
|
|
|
NM_001164508.2(NEB):c.17523C>T (p.Asp5841=)
|
|
|
|
NM_001164508.2(NEB):c.17529C>T (p.Phe5843=)
|
rs2153749478
|
|
|
NM_001164508.2(NEB):c.17535+12T>C
|
|
|
|
NM_001164508.2(NEB):c.17535+15T>C
|
|
|
|
NM_001164508.2(NEB):c.17535+18C>G
|
|
|
|
NM_001164508.2(NEB):c.17535+19del
|
|
|
|
NM_001164508.2(NEB):c.17535+1G>T
|
rs2153749469
|
|
|
NM_001164508.2(NEB):c.17535+20T>A
|
|
|
|
NM_001164508.2(NEB):c.17535+3A>G
|
rs1553784210
|
|
|
NM_001164508.2(NEB):c.17536-11C>A
|
|
|
|
NM_001164508.2(NEB):c.17536-13T>C
|
|
|
|
NM_001164508.2(NEB):c.17536-15C>G
|
|
|
|
NM_001164508.2(NEB):c.17536-18A>C
|
|
|
|
NM_001164508.2(NEB):c.17536-18A>G
|
|
|
|
NM_001164508.2(NEB):c.17536-20A>C
|
|
|
|
NM_001164508.2(NEB):c.17536-3T>C
|
|
|
|
NM_001164508.2(NEB):c.17536-4A>T
|
rs2153746785
|
|
|
NM_001164508.2(NEB):c.17536-5C>T
|
rs2096521366
|
|
|
NM_001164508.2(NEB):c.17536-5del
|
rs2153746809
|
|
|
NM_001164508.2(NEB):c.17541dup (p.Tyr5848fs)
|
rs886043631
|
|
|
NM_001164508.2(NEB):c.17543A>G (p.Tyr5848Cys)
|
rs1577949283
|
|
|
NM_001164508.2(NEB):c.17544T>C (p.Tyr5848=)
|
rs2153746737
|
|
|
NM_001164508.2(NEB):c.17546G>T (p.Arg5849Leu)
|
|
|
|
NM_001164508.2(NEB):c.17547C>T (p.Arg5849=)
|
|
|
|
NM_001164508.2(NEB):c.1754C>T (p.Ala585Val)
|
rs2099581852
|
|
|
NM_001164508.2(NEB):c.17550A>G (p.Thr5850=)
|
|
|
|
NM_001164508.2(NEB):c.17565C>G (p.Leu5855=)
|
rs1000805419
|
|
|
NM_001164508.2(NEB):c.1756A>G (p.Lys586Glu)
|
rs1576598655
|
|
|
NM_001164508.2(NEB):c.17577T>C (p.Pro5859=)
|
rs369400827
|
|
|
NM_001164508.2(NEB):c.17586_17587del (p.Asp5862fs)
|
|
|
|
NM_001164508.2(NEB):c.17592T>C (p.Val5864=)
|
rs758198271
|
|
|
NM_001164508.2(NEB):c.17595T>C (p.Asp5865=)
|
rs2153746565
|
|
|
NM_001164508.2(NEB):c.17598T>C (p.Tyr5866=)
|
|
|
|
NM_001164508.2(NEB):c.175C>G (p.Gln59Glu)
|
rs867732907
|
|
|
NM_001164508.2(NEB):c.175C>T (p.Gln59Ter)
|
rs867732907
|
|
|
NM_001164508.2(NEB):c.17601G>C (p.Val5867=)
|
rs58263509
|
|
|
NM_001164508.2(NEB):c.17608A>C (p.Lys5870Gln)
|
|
|
|
NM_001164508.2(NEB):c.17613A>G (p.Gln5871=)
|
|
|
|
NM_001164508.2(NEB):c.17619C>G (p.Gly5873=)
|
|
|
|
NM_001164508.2(NEB):c.17619C>T (p.Gly5873=)
|
rs767518298
|
|
|
NM_001164508.2(NEB):c.17620G>A (p.Glu5874Lys)
|
|
|
|
NM_001164508.2(NEB):c.17625C>T (p.Ile5875=)
|
rs2153746479
|
|
|
NM_001164508.2(NEB):c.17627T>C (p.Leu5876Pro)
|
rs1181510782
|
|
|
NM_001164508.2(NEB):c.17628C>G (p.Leu5876=)
|
rs377183242
|
|
|
NM_001164508.2(NEB):c.17629G>T (p.Asp5877Tyr)
|
|
|
|
NM_001164508.2(NEB):c.17634+12G>T
|
|
|
|
NM_001164508.2(NEB):c.17634+18T>A
|
|
|
|
NM_001164508.2(NEB):c.17634+18T>C
|
|
|
|
NM_001164508.2(NEB):c.17634+20A>G
|
|
|
|
NM_001164508.2(NEB):c.17634+8T>G
|
rs2153746370
|
|
|
NM_001164508.2(NEB):c.17634+9A>G
|
|
|
|
NM_001164508.2(NEB):c.17635-10_17635-9insG
|
rs2153745514
|
|
|
NM_001164508.2(NEB):c.17635-11_17635-10insG
|
|
|
|
NM_001164508.2(NEB):c.17635-16A>G
|
|
|
|
NM_001164508.2(NEB):c.17635-16A>T
|
|
|
|
NM_001164508.2(NEB):c.17635-16_17635-14del
|
rs2153745540
|
|
|
NM_001164508.2(NEB):c.17635-17C>G
|
|
|
|
NM_001164508.2(NEB):c.17635-17C>T
|
rs750285243
|
|
|
NM_001164508.2(NEB):c.17635-19C>T
|
rs1241667184
|
|
|
NM_001164508.2(NEB):c.17635-3del
|
rs3214503
|
|
|
NM_001164508.2(NEB):c.17635-3dup
|
rs3214503
|
|
|
NM_001164508.2(NEB):c.17635-4_17635-3dup
|
rs3214503
|
|
|
NM_001164508.2(NEB):c.17637T>C (p.Ile5879=)
|
rs757071372
|
|
|
NM_001164508.2(NEB):c.1763A>G (p.Asn588Ser)
|
rs2099581808
|
|
|
NM_001164508.2(NEB):c.17643C>T (p.Tyr5881=)
|
|
|
|
NM_001164508.2(NEB):c.17644C>G (p.Arg5882Gly)
|
|
|
|
NM_001164508.2(NEB):c.17647A>C (p.Lys5883Gln)
|
|
|
|
NM_001164508.2(NEB):c.17648A>G (p.Lys5883Arg)
|
|
|
|
NM_001164508.2(NEB):c.17653_17654del (p.Trp5885fs)
|
rs2096504394
|
|
|
NM_001164508.2(NEB):c.17654G>A (p.Trp5885Ter)
|
rs1340834766
|
|
|
NM_001164508.2(NEB):c.17658T>C (p.Asn5886=)
|
rs763191027
|
|
|
NM_001164508.2(NEB):c.17659G>A (p.Ala5887Thr)
|
|
|
|
NM_001164508.2(NEB):c.17661C>T (p.Ala5887=)
|
rs2153745272
|
|
|
NM_001164508.2(NEB):c.17664C>T (p.Thr5888=)
|
|
|
|
NM_001164508.2(NEB):c.17667A>G (p.Lys5889=)
|
|
|
|
NM_001164508.2(NEB):c.17670A>G (p.Ser5890=)
|
|
|
|
NM_001164508.2(NEB):c.17672A>C (p.Lys5891Thr)
|
|
|
|
NM_001164508.2(NEB):c.17676C>T (p.Tyr5892=)
|
|
|
|
NM_001164508.2(NEB):c.17678C>A (p.Thr5893Asn)
|
|
|
|
NM_001164508.2(NEB):c.17681T>A (p.Leu5894His)
|
rs201072996
|
|
|
NM_001164508.2(NEB):c.17681T>C (p.Leu5894Pro)
|
rs201072996
|
|
|
NM_001164508.2(NEB):c.17681T>G (p.Leu5894Arg)
|
|
|
|
NM_001164508.2(NEB):c.17682C>T (p.Leu5894=)
|
|
|
|
NM_001164508.2(NEB):c.17690C>A (p.Thr5897Asn)
|
|
|
|
NM_001164508.2(NEB):c.17690C>G (p.Thr5897Ser)
|
|
|
|
NM_001164508.2(NEB):c.17691C>A (p.Thr5897=)
|
rs933128761
|
|
|
NM_001164508.2(NEB):c.17691C>T (p.Thr5897=)
|
|
|
|
NM_001164508.2(NEB):c.17692C>T (p.Pro5898Ser)
|
|
|
|
NM_001164508.2(NEB):c.17694C>G (p.Pro5898=)
|
|
|
|
NM_001164508.2(NEB):c.17695C>T (p.Leu5899=)
|
rs2153745150
|
|
|
NM_001164508.2(NEB):c.17695dup (p.Leu5899fs)
|
rs2096502530
|
|
|
NM_001164508.2(NEB):c.17697G>C (p.Leu5899=)
|
rs2153745139
|
|
|
NM_001164508.2(NEB):c.17705C>T (p.Thr5902Ile)
|
|
|
|
NM_001164508.2(NEB):c.17708C>T (p.Ala5903Val)
|
rs2153745118
|
|
|
NM_001164508.2(NEB):c.17715G>A (p.Glu5905=)
|
|
|
|
NM_001164508.2(NEB):c.17724G>A (p.Arg5908=)
|
rs777619904
|
|
|
NM_001164508.2(NEB):c.17724G>C (p.Arg5908Ser)
|
|
|
|
NM_001164508.2(NEB):c.17733C>G (p.Asp5911Glu)
|
|
|
|
NM_001164508.2(NEB):c.17734del (p.Gln5912fs)
|
rs2096501278
|
|
|
NM_001164508.2(NEB):c.17736+11C>T
|
|
|
|
NM_001164508.2(NEB):c.17736+18A>T
|
|
|
|
NM_001164508.2(NEB):c.17736+1G>A
|
|
|
|
NM_001164508.2(NEB):c.17736+8T>C
|
|
|
|
NM_001164508.2(NEB):c.17737-14G>A
|
|
|
|
NM_001164508.2(NEB):c.17737-16T>C
|
|
|
|
NM_001164508.2(NEB):c.17737-17G>T
|
|
|
|
NM_001164508.2(NEB):c.17737-20A>G
|
|
|
|
NM_001164508.2(NEB):c.17737-9G>A
|
|
|
|
NM_001164508.2(NEB):c.17744A>G (p.Tyr5915Cys)
|
|
|
|
NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)
|
|
|
|
NM_001164508.2(NEB):c.1776C>T (p.Thr592=)
|
rs2149261347
|
|
|
NM_001164508.2(NEB):c.17777G>A (p.Gly5926Asp)
|
|
|
|
NM_001164508.2(NEB):c.17778T>C (p.Gly5926=)
|
rs2153744137
|
|
|
NM_001164508.2(NEB):c.17781del (p.Gly5926_Tyr5927insTer)
|
rs2096491549
|
|
|
NM_001164508.2(NEB):c.17782A>T (p.Ile5928Phe)
|
|
|
|
NM_001164508.2(NEB):c.17784T>C (p.Ile5928=)
|
rs969871854
|
|
|
NM_001164508.2(NEB):c.17789C>T (p.Pro5930Leu)
|
|
|
|
NM_001164508.2(NEB):c.1778G>A (p.Ser593Asn)
|
rs2099581746
|
|
|
NM_001164508.2(NEB):c.17796T>C (p.Asp5932=)
|
rs1315946832
|
|
|
NM_001164508.2(NEB):c.17799T>C (p.Ala5933=)
|
rs2153744048
|
|
|
NM_001164508.2(NEB):c.177G>C (p.Gln59His)
|
rs200990309
|
|
|
NM_001164508.2(NEB):c.1780G>A (p.Asp594Asn)
|
|
|
|
NM_001164508.2(NEB):c.1781A>T (p.Asp594Val)
|
|
|
|
NM_001164508.2(NEB):c.1782+10G>A
|
rs2149260644
|
|
|
NM_001164508.2(NEB):c.1782+11C>A
|
|
|
|
NM_001164508.2(NEB):c.1782+1del
|
rs1390897355
|
|
|
NM_001164508.2(NEB):c.1782+4_1782+5del
|
rs398124168
|
|
|
NM_001164508.2(NEB):c.1782+5G>A
|
|
|
|
NM_001164508.2(NEB):c.17820T>C (p.His5940=)
|
|
|
|
NM_001164508.2(NEB):c.17823C>T (p.His5941=)
|
rs1308314299
|
|
|
NM_001164508.2(NEB):c.17828del (p.Asn5943fs)
|
rs1560031341
|
|
|
NM_001164508.2(NEB):c.1783-12A>T
|
|
|
|
NM_001164508.2(NEB):c.1783-18T>C
|
|
|
|
NM_001164508.2(NEB):c.1783-18TG[4]
|
|
|
|
NM_001164508.2(NEB):c.1783-4G>T
|
rs761557611
|
|
|
NM_001164508.2(NEB):c.1783-5T>C
|
rs2149258165
|
|
|
NM_001164508.2(NEB):c.1783-8C>T
|
rs2149258245
|
|
|
NM_001164508.2(NEB):c.1783-9T>A
|
|
|
|
NM_001164508.2(NEB):c.17833G>A (p.Val5945Ile)
|
|
|
|
NM_001164508.2(NEB):c.17840G>A (p.Ser5947Asn)
|
|
|
|
NM_001164508.2(NEB):c.17842G>A (p.Glu5948Lys)
|
|
|
|
NM_001164508.2(NEB):c.17844+11C>T
|
|
|
|
NM_001164508.2(NEB):c.17844+9T>C
|
|
|
|
NM_001164508.2(NEB):c.17845-11C>A
|
|
|
|
NM_001164508.2(NEB):c.17845-11C>T
|
|
|
|
NM_001164508.2(NEB):c.17845-13C>G
|
|
|
|
NM_001164508.2(NEB):c.17845-19A>G
|
|
|
|
NM_001164508.2(NEB):c.17845-1G>A
|
rs1371849916
|
|
|
NM_001164508.2(NEB):c.17845-1G>C
|
rs1371849916
|
|
|
NM_001164508.2(NEB):c.17845-2A>T
|
rs1177405905
|
|
|
NM_001164508.2(NEB):c.17845-3C>G
|
rs2153740439
|
|
|
NM_001164508.2(NEB):c.17845-7T>C
|
rs2153740522
|
|
|
NM_001164508.2(NEB):c.17845-9T>C
|
rs2096455235
|
|
|
NM_001164508.2(NEB):c.17847G>A (p.Leu5949=)
|
|
|
|
NM_001164508.2(NEB):c.17848A>G (p.Lys5950Glu)
|
|
|
|
NM_001164508.2(NEB):c.17853C>T (p.Tyr5951=)
|
rs2153740390
|
|
|
NM_001164508.2(NEB):c.17856del (p.Ala5953fs)
|
|
|
|
NM_001164508.2(NEB):c.17859T>C (p.Ala5953=)
|
rs762300305
|
|
|
NM_001164508.2(NEB):c.1785G>C (p.Val595=)
|
rs2149257978
|
|
|
NM_001164508.2(NEB):c.17862A>G (p.Glu5954=)
|
rs565162006
|
|
|
NM_001164508.2(NEB):c.17865T>C (p.His5955=)
|
rs1394078245
|
|
|
NM_001164508.2(NEB):c.17865T>G (p.His5955Gln)
|
rs1394078245
|
|
|
NM_001164508.2(NEB):c.17872C>A (p.Gln5958Lys)
|
|
|
|
NM_001164508.2(NEB):c.17877A>G (p.Lys5959=)
|
|
|
|
NM_001164508.2(NEB):c.17883T>C (p.His5961=)
|
rs2153740122
|
|
|
NM_001164508.2(NEB):c.17889T>A (p.Val5963=)
|
rs2153740073
|
|
|
NM_001164508.2(NEB):c.17895C>T (p.Val5965=)
|
|
|
|
NM_001164508.2(NEB):c.17896C>G (p.Pro5966Ala)
|
rs2096453351
|
|
|
NM_001164508.2(NEB):c.17898G>T (p.Pro5966=)
|
rs376655029
|
|
|
NM_001164508.2(NEB):c.17903T>A (p.Met5968Lys)
|
|
|
|
NM_001164508.2(NEB):c.17913T>C (p.Asp5971=)
|
rs1167894918
|
|
|
NM_001164508.2(NEB):c.17914C>T (p.Pro5972Ser)
|
|
|
|
NM_001164508.2(NEB):c.17915C>A (p.Pro5972His)
|
rs4327235
|
|
|
NM_001164508.2(NEB):c.17915C>T (p.Pro5972Leu)
|
rs4327235
|
|
|
NM_001164508.2(NEB):c.17920C>T (p.Leu5974=)
|
rs1577892687
|
|
|
NM_001164508.2(NEB):c.17925T>G (p.Val5975=)
|
|
|
|
NM_001164508.2(NEB):c.17928G>A (p.Trp5976Ter)
|
|
|
|
NM_001164508.2(NEB):c.17931T>C (p.Phe5977=)
|
rs886054938
|
|
|
NM_001164508.2(NEB):c.17939C>A (p.Ala5980Glu)
|
rs143582290
|
|
|
NM_001164508.2(NEB):c.17942G>T (p.Gly5981Val)
|
|
|
|
NM_001164508.2(NEB):c.17943C>T (p.Gly5981=)
|
|
|
|
NM_001164508.2(NEB):c.17944C>T (p.Gln5982Ter)
|
|
|
|
NM_001164508.2(NEB):c.17948T>G (p.Ile5983Ser)
|
|
|
|
NM_001164508.2(NEB):c.17953_18472-56del
|
|
|
|
NM_001164508.2(NEB):c.17958G>A (p.Glu5986=)
|
rs1453137566
|
|
|
NM_001164508.2(NEB):c.17959A>C (p.Arg5987=)
|
rs2153739559
|
|
|
NM_001164508.2(NEB):c.17964A>G (p.Leu5988=)
|
|
|
|
NM_001164508.2(NEB):c.17965T>A (p.Tyr5989Asn)
|
rs752113075
|
|
|
NM_001164508.2(NEB):c.17967C>T (p.Tyr5989=)
|
rs2153739503
|
|
|
NM_001164508.2(NEB):c.17976C>T (p.Asp5992=)
|
rs2153739463
|
|
|
NM_001164508.2(NEB):c.17980C>G (p.His5994Asp)
|
rs764985237
|
|
|
NM_001164508.2(NEB):c.17986del (p.Thr5996fs)
|
rs1577890764
|
|
|
NM_001164508.2(NEB):c.17988A>G (p.Thr5996=)
|
|
|
|
NM_001164508.2(NEB):c.17989A>T (p.Lys5997Ter)
|
rs2153739384
|
|
|
NM_001164508.2(NEB):c.17999T>A (p.Ile6000Asn)
|
|
|
|
NM_001164508.2(NEB):c.18008C>G (p.Pro6003Arg)
|
rs2096449520
|
|
|
NM_001164508.2(NEB):c.18009T>G (p.Pro6003=)
|
rs2153739253
|
|
|
NM_001164508.2(NEB):c.1800C>A (p.Asp600Glu)
|
|
|
|
NM_001164508.2(NEB):c.18015T>C (p.Asp6005=)
|
rs2153739190
|
|
|
NM_001164508.2(NEB):c.18017T>C (p.Met6006Thr)
|
|
|
|
NM_001164508.2(NEB):c.18021G>A (p.Val6007=)
|
|
|
|
NM_001164508.2(NEB):c.18024A>C (p.Ser6008=)
|
|
|
|
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs)
|
rs748358450
|
|
|
NM_001164508.2(NEB):c.18033C>A (p.Ala6011=)
|
|
|
|
NM_001164508.2(NEB):c.18036C>T (p.Ala6012=)
|
|
|
|
NM_001164508.2(NEB):c.18037A>C (p.Lys6013Gln)
|
rs2096448727
|
|
|
NM_001164508.2(NEB):c.18040C>T (p.Gln6014Ter)
|
rs2153739049
|
|
|
NM_001164508.2(NEB):c.18045G>A (p.Gly6015=)
|
rs777744742
|
|
|
NM_001164508.2(NEB):c.18048G>A (p.Gln6016=)
|
rs1014679160
|
|
|
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val)
|
rs574746662
|
|
|
NM_001164508.2(NEB):c.18070T>G (p.Tyr6024Asp)
|
|
|
|
NM_001164508.2(NEB):c.18080A>G (p.Tyr6027Cys)
|
|
|
|
NM_001164508.2(NEB):c.18081_18089del (p.Tyr6027_Gln6030delinsTer)
|
|
|
|
NM_001164508.2(NEB):c.18096G>A (p.Met6032Ile)
|
rs764679933
|
|
|
NM_001164508.2(NEB):c.1809A>G (p.Lys603=)
|
rs2099580703
|
|
|
NM_001164508.2(NEB):c.18102T>C (p.His6034=)
|
rs2153738695
|
|
|
NM_001164508.2(NEB):c.18106G>C (p.Asp6036His)
|
|
|
|
NM_001164508.2(NEB):c.18110A>G (p.Gln6037Arg)
|
|
|
|
NM_001164508.2(NEB):c.18114C>T (p.Asn6038=)
|
rs753494666
|
|
|
NM_001164508.2(NEB):c.18117T>C (p.Asp6039=)
|
rs2153738575
|
|
|
NM_001164508.2(NEB):c.1811del (p.Asn604fs)
|
|
|
|
NM_001164508.2(NEB):c.18122T>C (p.Ile6041Thr)
|
rs2096445948
|
|
|
NM_001164508.2(NEB):c.18124C>T (p.Gln6042Ter)
|
rs1577886635
|
|
|
NM_001164508.2(NEB):c.18127G>A (p.Ala6043Thr)
|
rs1553775860
|
|
|
NM_001164508.2(NEB):c.1812C>A (p.Asn604Lys)
|
rs772151546
|
|
|
NM_001164508.2(NEB):c.18136G>C (p.Ala6046Pro)
|
rs2096445433
|
|
|
NM_001164508.2(NEB):c.18141T>C (p.Tyr6047=)
|
rs1157586879
|
|
|
NM_001164508.2(NEB):c.18146_18156+7del
|
|
|
|
NM_001164508.2(NEB):c.18147A>G (p.Leu6049=)
|
rs1326703300
|
|
|
NM_001164508.2(NEB):c.18149A>C (p.Gln6050Pro)
|
|
|
|
NM_001164508.2(NEB):c.18149A>G (p.Gln6050Arg)
|
|
|
|
NM_001164508.2(NEB):c.18152G>A (p.Ser6051Asn)
|
rs1577885822
|
|
|
NM_001164508.2(NEB):c.18153T>C (p.Ser6051=)
|
rs1381905125
|
|
|
NM_001164508.2(NEB):c.18156+14G>A
|
|
|
|
NM_001164508.2(NEB):c.18156+15T>A
|
|
|
|
NM_001164508.2(NEB):c.18156+20T>A
|
|
|
|
NM_001164508.2(NEB):c.18156+8A>G
|
rs2153738250
|
|
|
NM_001164508.2(NEB):c.18157-19T>C
|
|
|
|
NM_001164508.2(NEB):c.18157-20A>C
|
|
|
|
NM_001164508.2(NEB):c.18157-2A>G
|
rs925947627
|
|
|
NM_001164508.2(NEB):c.18157-7C>T
|
|
|
|
NM_001164508.2(NEB):c.18160G>A (p.Val6054Ile)
|
rs975134897
|
|
|
NM_001164508.2(NEB):c.18162C>T (p.Val6054=)
|
|
|
|
NM_001164508.2(NEB):c.18165C>A (p.Tyr6055Ter)
|
|
|
|
NM_001164508.2(NEB):c.18183G>A (p.Trp6061Ter)
|
|
|
|
NM_001164508.2(NEB):c.18187C>T (p.Arg6063Ter)
|
|
|
|
NM_001164508.2(NEB):c.18188G>A (p.Arg6063Gln)
|
|
|
|
NM_001164508.2(NEB):c.18194T>C (p.Ile6065Thr)
|
|
|
|
NM_001164508.2(NEB):c.18195T>C (p.Ile6065=)
|
rs2153730840
|
|
|
NM_001164508.2(NEB):c.18198C>A (p.Gly6066=)
|
rs2153730829
|
|
|
NM_001164508.2(NEB):c.18210G>T (p.Leu6070=)
|
|
|
|
NM_001164508.2(NEB):c.18211del (p.Asp6071fs)
|
rs997878946
|
|
|
NM_001164508.2(NEB):c.18221A>T (p.Asp6074Val)
|
|
|
|
NM_001164508.2(NEB):c.18222C>T (p.Asp6074=)
|
|
|
|
NM_001164508.2(NEB):c.18224A>G (p.His6075Arg)
|
|
|
|
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
|
|
|
|
NM_001164508.2(NEB):c.18246G>A (p.Gln6082=)
|
|
|
|
NM_001164508.2(NEB):c.18249A>G (p.Glu6083=)
|
rs2153730681
|
|
|
NM_001164508.2(NEB):c.1824G>A (p.Met608Ile)
|
|
|
|
NM_001164508.2(NEB):c.18261+10G>A
|
|
|
|
NM_001164508.2(NEB):c.18261+12C>T
|
|
|
|
NM_001164508.2(NEB):c.18261+14A>G
|
|
|
|
NM_001164508.2(NEB):c.18261+19C>T
|
|
|
|
NM_001164508.2(NEB):c.18261+19_18261+21del
|
rs1319324645
|
|
|
NM_001164508.2(NEB):c.18261+1G>A
|
|
|
|
NM_001164508.2(NEB):c.18261+1G>T
|
rs112544116
|
|
|
NM_001164508.2(NEB):c.18261+4C>G
|
rs757739475
|
|
|
NM_001164508.2(NEB):c.18261+4C>T
|
|
|
|
NM_001164508.2(NEB):c.18261+5G>A
|
rs375167899
|
|
|
NM_001164508.2(NEB):c.18261+8A>C
|
|
|
|
NM_001164508.2(NEB):c.18261+8A>G
|
rs1577815538
|
|
|
NM_001164508.2(NEB):c.18262-12G>A
|
|
|
|
NM_001164508.2(NEB):c.18262-13C>G
|
|
|
|
NM_001164508.2(NEB):c.18262-15T>C
|
|
|
|
NM_001164508.2(NEB):c.18262-18G>A
|
|
|
|
NM_001164508.2(NEB):c.18262-3C>T
|
|
|
|
NM_001164508.2(NEB):c.18262-6T>C
|
rs1209057790
|
|
|
NM_001164508.2(NEB):c.18262-7T>C
|
|
|
|
NM_001164508.2(NEB):c.18267A>G (p.Lys6089=)
|
|
|
|
NM_001164508.2(NEB):c.18270T>A (p.Tyr6090Ter)
|
rs2153729960
|
|
|
NM_001164508.2(NEB):c.18280G>T (p.Ala6094Ser)
|
|
|
|
NM_001164508.2(NEB):c.18285T>A (p.Leu6095=)
|
rs769252447
|
|
|
NM_001164508.2(NEB):c.18297T>C (p.Pro6099=)
|
|
|
|
NM_001164508.2(NEB):c.18297T>G (p.Pro6099=)
|
|
|
|
NM_001164508.2(NEB):c.182C>G (p.Ala61Gly)
|
rs2099795617
|
|
|
NM_001164508.2(NEB):c.18300C>T (p.Asn6100=)
|
|
|
|
NM_001164508.2(NEB):c.18302T>C (p.Phe6101Ser)
|
rs2153729845
|
|
|
NM_001164508.2(NEB):c.18308G>T (p.Ser6103Ile)
|
|
|
|
NM_001164508.2(NEB):c.1830A>G (p.Gly610=)
|
rs2099580567
|
|
|
NM_001164508.2(NEB):c.18310G>C (p.Val6104Leu)
|
rs1253544291
|
|
|
NM_001164508.2(NEB):c.18310G>T (p.Val6104Leu)
|
|
|
|
NM_001164508.2(NEB):c.18314T>C (p.Val6105Ala)
|
rs2096324310
|
|
|
NM_001164508.2(NEB):c.18321T>C (p.Pro6107=)
|
|
|
|
NM_001164508.2(NEB):c.18324A>G (p.Pro6108=)
|
|
|
|
NM_001164508.2(NEB):c.18324A>T (p.Pro6108=)
|
|
|
|
NM_001164508.2(NEB):c.18327G>T (p.Glu6109Asp)
|
rs2096323303
|
|
|
NM_001164508.2(NEB):c.18339C>T (p.Ala6113=)
|
rs910166443
|
|
|
NM_001164508.2(NEB):c.18354C>A (p.Val6118=)
|
|
|
|
NM_001164508.2(NEB):c.18356A>G (p.Asn6119Ser)
|
|
|
|
NM_001164508.2(NEB):c.18358C>T (p.Gln6120Ter)
|
|
|
|
NM_001164508.2(NEB):c.18363T>C (p.Ser6121=)
|
|
|
|
NM_001164508.2(NEB):c.18366+11T>C
|
|
|
|
NM_001164508.2(NEB):c.18366+13T>A
|
|
|
|
NM_001164508.2(NEB):c.18366+16G>A
|
|
|
|
NM_001164508.2(NEB):c.18366+18A>G
|
|
|
|
NM_001164508.2(NEB):c.18366+20G>A
|
|
|
|
NM_001164508.2(NEB):c.18366+2T>C
|
rs2153729614
|
|
|
NM_001164508.2(NEB):c.18366+9G>C
|
|
|
|
NM_001164508.2(NEB):c.18367-14T>C
|
|
|
|
NM_001164508.2(NEB):c.18367-15G>T
|
|
|
|
NM_001164508.2(NEB):c.18367-1_18367delinsAA
|
rs1553770178
|
|
|
NM_001164508.2(NEB):c.18367-1_18370del
|
rs1553770146
|
|
|
NM_001164508.2(NEB):c.18367-6C>T
|
|
|
|
NM_001164508.2(NEB):c.1836C>T (p.Leu612=)
|
|
|
|
NM_001164508.2(NEB):c.18374A>G (p.Tyr6125Cys)
|
rs2096294914
|
|
|
NM_001164508.2(NEB):c.18378A>G (p.Lys6126=)
|
|
|
|
NM_001164508.2(NEB):c.18402C>A (p.Gly6134=)
|
|
|
|
NM_001164508.2(NEB):c.18406T>C (p.Tyr6136His)
|
|
|
|
NM_001164508.2(NEB):c.18407A>G (p.Tyr6136Cys)
|
|
|
|
NM_001164508.2(NEB):c.18408T>C (p.Tyr6136=)
|
rs757188494
|
|
|
NM_001164508.2(NEB):c.18414T>C (p.Phe6138=)
|
|
|
|
NM_001164508.2(NEB):c.18415dup (p.Ser6139fs)
|
|
|
|
NM_001164508.2(NEB):c.18417A>G (p.Ser6139=)
|
rs2153726842
|
|
|
NM_001164508.2(NEB):c.18422A>T (p.Asp6141Val)
|
|
|
|
NM_001164508.2(NEB):c.18423T>A (p.Asp6141Glu)
|
|
|
|
NM_001164508.2(NEB):c.18425C>A (p.Thr6142Lys)
|
rs377179553
|
|
|
NM_001164508.2(NEB):c.18431A>T (p.His6144Leu)
|
rs34504204
|
|
|
NM_001164508.2(NEB):c.18432T>C (p.His6144=)
|
|
|
|
NM_001164508.2(NEB):c.18435C>T (p.Ile6145=)
|
rs2153726712
|
|
|
NM_001164508.2(NEB):c.18436T>C (p.Ser6146Pro)
|
rs1231291915
|
|
|
NM_001164508.2(NEB):c.18444C>T (p.Ser6148=)
|
rs1324616356
|
|
|
NM_001164508.2(NEB):c.18465C>T (p.Tyr6155=)
|
|
|
|
NM_001164508.2(NEB):c.18471+10C>T
|
|
|
|
NM_001164508.2(NEB):c.18471+13T>A
|
|
|
|
NM_001164508.2(NEB):c.18471+17G>A
|
|
|
|
NM_001164508.2(NEB):c.18471+1G>C
|
rs1553769576
|
|
|
NM_001164508.2(NEB):c.18471+9del
|
rs2153726541
|
|
|
NM_001164508.2(NEB):c.18472-11del
|
|
|
|
NM_001164508.2(NEB):c.18472-15A>G
|
|
|
|
NM_001164508.2(NEB):c.18472-17G>A
|
rs2096241034
|
|
|
NM_001164508.2(NEB):c.18472-19A>G
|
|
|
|
NM_001164508.2(NEB):c.18472-4C>T
|
|
|
|
NM_001164508.2(NEB):c.18472-5T>C
|
|
|
|
NM_001164508.2(NEB):c.18475C>T (p.Leu6159=)
|
|
|
|
NM_001164508.2(NEB):c.18477G>A (p.Leu6159=)
|
rs1401069525
|
|
|
NM_001164508.2(NEB):c.18477G>C (p.Leu6159=)
|
rs1401069525
|
|
|
NM_001164508.2(NEB):c.18489G>C (p.Ala6163=)
|
rs371669095
|
|
|
NM_001164508.2(NEB):c.18496G>A (p.Gly6166Ser)
|
rs1239862833
|
|
|
NM_001164508.2(NEB):c.1849G>A (p.Asp617Asn)
|
|
|
|
NM_001164508.2(NEB):c.18501C>T (p.Thr6167=)
|
rs2153721450
|
|
|
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs)
|
rs747282057
|
|
|
NM_001164508.2(NEB):c.18507C>G (p.Ala6169=)
|
|
|
|
NM_001164508.2(NEB):c.18515A>G (p.Tyr6172Cys)
|
|
|
|
NM_001164508.2(NEB):c.18517A>C (p.Thr6173Pro)
|
|
|
|
NM_001164508.2(NEB):c.18520C>T (p.Leu6174=)
|
rs2153721363
|
|
|
NM_001164508.2(NEB):c.18523G>A (p.Asp6175Asn)
|
|
|
|
NM_001164508.2(NEB):c.18529C>T (p.Arg6177Cys)
|
|
|
|
NM_001164508.2(NEB):c.18538C>T (p.Pro6180Ser)
|
|
|
|
NM_001164508.2(NEB):c.18541A>T (p.Ile6181Phe)
|
|
|
|
NM_001164508.2(NEB):c.1854C>A (p.Pro618=)
|
|
|
|
NM_001164508.2(NEB):c.1854C>G (p.Pro618=)
|
rs1469092630
|
|
|
NM_001164508.2(NEB):c.18552C>A (p.Ala6184=)
|
|
|
|
NM_001164508.2(NEB):c.18552C>T (p.Ala6184=)
|
|
|
|
NM_001164508.2(NEB):c.18559G>A (p.Ala6187Thr)
|
rs994460843
|
|
|
NM_001164508.2(NEB):c.18565C>T (p.Leu6189=)
|
|
|
|
NM_001164508.2(NEB):c.18572A>G (p.Asn6191Ser)
|
rs2096236392
|
|
|
NM_001164508.2(NEB):c.18575G>C (p.Ser6192Thr)
|
|
|
|
NM_001164508.2(NEB):c.18579+11C>T
|
rs567282220
|
|
|
NM_001164508.2(NEB):c.18579+15T>C
|
rs2096234308
|
|
|
NM_001164508.2(NEB):c.18579+8T>G
|
rs2153721033
|
|
|
NM_001164508.2(NEB):c.18579+9G>A
|
rs780126337
|
|
|
NM_001164508.2(NEB):c.18579+9G>C
|
rs780126337
|
|
|
NM_001164508.2(NEB):c.18580-10C>G
|
|
|
|
NM_001164508.2(NEB):c.18580-19T>C
|
|
|
|
NM_001164508.2(NEB):c.18580-20del
|
|
|
|
NM_001164508.2(NEB):c.18580-8_18608del
|
|
|
|
NM_001164508.2(NEB):c.18591A>G (p.Lys6197=)
|
rs2153719995
|
|
|
NM_001164508.2(NEB):c.18594G>A (p.Glu6198=)
|
rs1052632945
|
|
|
NM_001164508.2(NEB):c.18594del (p.Thr6199fs)
|
|
|
|
NM_001164508.2(NEB):c.18596C>T (p.Thr6199Ile)
|
rs1331648772
|
|
|
NM_001164508.2(NEB):c.18597A>G (p.Thr6199=)
|
|
|
|
NM_001164508.2(NEB):c.18599A>G (p.Tyr6200Cys)
|
|
|
|
NM_001164508.2(NEB):c.18600T>C (p.Tyr6200=)
|
rs1577711346
|
|
|
NM_001164508.2(NEB):c.18603G>C (p.Glu6201Asp)
|
|
|
|
NM_001164508.2(NEB):c.18606G>A (p.Lys6202=)
|
rs2153719853
|
|
|
NM_001164508.2(NEB):c.18609G>A (p.Gln6203=)
|
|
|
|
NM_001164508.2(NEB):c.1861C>T (p.Leu621=)
|
|
|
|
NM_001164508.2(NEB):c.18621C>T (p.Tyr6207=)
|
|
|
|
NM_001164508.2(NEB):c.18624G>A (p.Leu6208=)
|
rs1234623857
|
|
|
NM_001164508.2(NEB):c.18624G>T (p.Leu6208=)
|
rs1234623857
|
|
|
NM_001164508.2(NEB):c.18656T>G (p.Val6219Gly)
|
rs753261774
|
|
|
NM_001164508.2(NEB):c.18662A>C (p.His6221Pro)
|
|
|
|
NM_001164508.2(NEB):c.18665G>A (p.Cys6222Tyr)
|
|
|
|
NM_001164508.2(NEB):c.1866C>T (p.His622=)
|
|
|
|
NM_001164508.2(NEB):c.18683T>A (p.Met6228Lys)
|
|
|
|
NM_001164508.2(NEB):c.18687G>A (p.Arg6229=)
|
rs2153719286
|
|
|
NM_001164508.2(NEB):c.18691G>A (p.Ala6231Thr)
|
|
|
|
NM_001164508.2(NEB):c.18692C>A (p.Ala6231Glu)
|
|
|
|
NM_001164508.2(NEB):c.18692C>T (p.Ala6231Val)
|
rs375357016
|
|
|
NM_001164508.2(NEB):c.18693+12del
|
|
|
|
NM_001164508.2(NEB):c.18693+5G>C
|
rs377482159
|
|
|
NM_001164508.2(NEB):c.18694-19T>C
|
|
|
|
NM_001164508.2(NEB):c.18694-1G>A
|
rs2153712182
|
|
|
NM_001164508.2(NEB):c.18694-5A>G
|
|
|
|
NM_001164508.2(NEB):c.18694-6_18694-2del
|
rs1377029367
|
|
|
NM_001164508.2(NEB):c.18694-9del
|
rs753417927
|
|
|
NM_001164508.2(NEB):c.18694-9dup
|
rs753417927
|
|
|
NM_001164508.2(NEB):c.18699C>T (p.Asn6233=)
|
|
|
|
NM_001164508.2(NEB):c.1869C>A (p.Ser623=)
|
|
|
|
NM_001164508.2(NEB):c.1869C>T (p.Ser623=)
|
|
|
|
NM_001164508.2(NEB):c.18701A>G (p.Tyr6234Cys)
|
|
|
|
NM_001164508.2(NEB):c.18702C>T (p.Tyr6234=)
|
rs757855431
|
|
|
NM_001164508.2(NEB):c.18714T>G (p.Tyr6238Ter)
|
rs2153712099
|
|
|
NM_001164508.2(NEB):c.18723C>T (p.Thr6241=)
|
rs2153712061
|
|
|
NM_001164508.2(NEB):c.18724A>G (p.Lys6242Glu)
|
rs886054937
|
|
|
NM_001164508.2(NEB):c.18733G>A (p.Val6245Ile)
|
|
|
|
NM_001164508.2(NEB):c.18741C>A (p.Ile6247=)
|
rs1577665038
|
|
|
NM_001164508.2(NEB):c.18748G>A (p.Asp6250Asn)
|
|
|
|
NM_001164508.2(NEB):c.1874A>C (p.Lys625Thr)
|
|
|
|
NM_001164508.2(NEB):c.18751A>G (p.Met6251Val)
|
|
|
|
NM_001164508.2(NEB):c.18763G>T (p.Val6255Leu)
|
rs781706876
|
|
|
NM_001164508.2(NEB):c.18781C>T (p.Gln6261Ter)
|
|
|
|
NM_001164508.2(NEB):c.18787A>G (p.Ile6263Val)
|
|
|
|
NM_001164508.2(NEB):c.18799C>T (p.Leu6267=)
|
|
|
|
NM_001164508.2(NEB):c.18804G>A (p.Glu6268=)
|
rs1577663381
|
|
|
NM_001164508.2(NEB):c.18804G>C (p.Glu6268Asp)
|
|
|
|
NM_001164508.2(NEB):c.18807T>C (p.Tyr6269=)
|
|
|
|
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter)
|
rs754369875
|
|
|
NM_001164508.2(NEB):c.18814T>C (p.Tyr6272His)
|
rs921387109
|
|
|
NM_001164508.2(NEB):c.1881C>G (p.Ala627=)
|
rs2149255363
|
|
|
NM_001164508.2(NEB):c.18823C>A (p.Gln6275Lys)
|
|
|
|
NM_001164508.2(NEB):c.18823C>G (p.Gln6275Glu)
|
|
|
|
NM_001164508.2(NEB):c.18828G>A (p.Trp6276Ter)
|
rs2153711477
|
|
|
NM_001164508.2(NEB):c.1883A>C (p.Lys628Thr)
|
rs1176664285
|
|
|
NM_001164508.2(NEB):c.1883A>G (p.Lys628Arg)
|
rs1176664285
|
|
|
NM_001164508.2(NEB):c.18842A>G (p.Glu6281Gly)
|
rs768965998
|
|
|
NM_001164508.2(NEB):c.18847C>T (p.Pro6283Ser)
|
|
|
|
NM_001164508.2(NEB):c.18849C>T (p.Pro6283=)
|
|
|
|
NM_001164508.2(NEB):c.18852T>C (p.Asn6284=)
|
rs1362922636
|
|
|
NM_001164508.2(NEB):c.18857T>C (p.Ile6286Thr)
|
|
|
|
NM_001164508.2(NEB):c.18858A>G (p.Ile6286Met)
|
|
|
|
NM_001164508.2(NEB):c.18862G>T (p.Val6288Phe)
|
|
|
|
NM_001164508.2(NEB):c.18870C>A (p.Asn6290Lys)
|
rs200122580
|
|
|
NM_001164508.2(NEB):c.18871G>A (p.Ala6291Thr)
|
|
|
|
NM_001164508.2(NEB):c.18872C>T (p.Ala6291Val)
|
|
|
|
NM_001164508.2(NEB):c.18873C>T (p.Ala6291=)
|
|
|
|
NM_001164508.2(NEB):c.18876G>A (p.Gln6292=)
|
|
|
|
NM_001164508.2(NEB):c.18881T>C (p.Ile6294Thr)
|
|
|
|
NM_001164508.2(NEB):c.18891+14T>C
|
|
|
|
NM_001164508.2(NEB):c.18891+18C>T
|
|
|
|
NM_001164508.2(NEB):c.18891+8G>A
|
|
|
|
NM_001164508.2(NEB):c.18891+9T>A
|
rs2153711124
|
|
|
NM_001164508.2(NEB):c.18892-13C>G
|
|
|
|
NM_001164508.2(NEB):c.18892-15CT[2]
|
|
|
|
NM_001164508.2(NEB):c.18892-18G>T
|
|
|
|
NM_001164508.2(NEB):c.18892-4G>A
|
rs2153709102
|
|
|
NM_001164508.2(NEB):c.18892-8T>A
|
|
|
|
NM_001164508.2(NEB):c.18892-8T>C
|
|
|
|
NM_001164508.2(NEB):c.18893A>G (p.Asn6298Ser)
|
rs781054657
|
|
|
NM_001164508.2(NEB):c.18893A>T (p.Asn6298Ile)
|
|
|
|
NM_001164508.2(NEB):c.18894T>C (p.Asn6298=)
|
rs754749448
|
|
|
NM_001164508.2(NEB):c.18897G>A (p.Val6299=)
|
rs568599013
|
|
|
NM_001164508.2(NEB):c.18900T>C (p.Tyr6300=)
|
rs1393913548
|
|
|
NM_001164508.2(NEB):c.18908A>C (p.Asp6303Ala)
|
|
|
|
NM_001164508.2(NEB):c.18909C>A (p.Asp6303Glu)
|
|
|
|
NM_001164508.2(NEB):c.18910C>T (p.Leu6304=)
|
|
|
|
NM_001164508.2(NEB):c.18915T>C (p.Asn6305=)
|
rs1436289680
|
|
|
NM_001164508.2(NEB):c.18918G>T (p.Trp6306Cys)
|
rs1559952676
|
|
|
NM_001164508.2(NEB):c.18923A>G (p.Lys6308Arg)
|
|
|
|
NM_001164508.2(NEB):c.1893T>C (p.Ser631=)
|
|
|
|
NM_001164508.2(NEB):c.18940G>A (p.Val6314Ile)
|
rs764044045
|
|
|
NM_001164508.2(NEB):c.18955C>A (p.Gln6319Lys)
|
|
|
|
NM_001164508.2(NEB):c.18955C>T (p.Gln6319Ter)
|
|
|
|
NM_001164508.2(NEB):c.1896+14T>C
|
|
|
|
NM_001164508.2(NEB):c.1896+15A>G
|
|
|
|
NM_001164508.2(NEB):c.1896+4_1896+5del
|
|
|
|
NM_001164508.2(NEB):c.1896+7T>A
|
rs1553600682
|
|
|
NM_001164508.2(NEB):c.1896+9C>G
|
|
|
|
NM_001164508.2(NEB):c.18962T>A (p.Leu6321His)
|
|
|
|
NM_001164508.2(NEB):c.18963C>T (p.Leu6321=)
|
rs1577636859
|
|
|
NM_001164508.2(NEB):c.18966T>C (p.His6322=)
|
rs2153708805
|
|
|
NM_001164508.2(NEB):c.1897-10C>A
|
rs2149174348
|
|
|
NM_001164508.2(NEB):c.1897-1G>A
|
rs1553593177
|
|
|
NM_001164508.2(NEB):c.1897-20_1897-16del
|
|
|
|
NM_001164508.2(NEB):c.18972G>A (p.Lys6324=)
|
rs2153708778
|
|
|
NM_001164508.2(NEB):c.18978A>T (p.Ser6326=)
|
|
|
|
NM_001164508.2(NEB):c.18981C>A (p.Tyr6327Ter)
|
rs761964375
|
|
|
NM_001164508.2(NEB):c.18982G>A (p.Asp6328Asn)
|
|
|
|
NM_001164508.2(NEB):c.18996+10C>T
|
rs772798498
|
|
|
NM_001164508.2(NEB):c.18996+19A>G
|
rs2153708574
|
|
|
NM_001164508.2(NEB):c.18996+2T>C
|
rs1577636079
|
|
|
NM_001164508.2(NEB):c.18996+7C>T
|
rs2153708653
|
|
|
NM_001164508.2(NEB):c.18997-10T>C
|
rs4544436
|
|
|
NM_001164508.2(NEB):c.18997-10T>G
|
rs4544436
|
|
|
NM_001164508.2(NEB):c.18997-13T>C
|
|
|
|
NM_001164508.2(NEB):c.18997-16T>C
|
|
|
|
NM_001164508.2(NEB):c.18997-16_18997-15del
|
|
|
|
NM_001164508.2(NEB):c.18997-7T>C
|
rs2153703521
|
|
|
NM_001164508.2(NEB):c.1899A>G (p.Arg633=)
|
|
|
|
NM_001164508.2(NEB):c.19000C>T (p.Gln6334Ter)
|
|
|
|
NM_001164508.2(NEB):c.19001A>T (p.Gln6334Leu)
|
|
|
|
NM_001164508.2(NEB):c.19008A>G (p.Thr6336=)
|
|
|
|
NM_001164508.2(NEB):c.1900T>C (p.Leu634=)
|
rs1576526817
|
|
|
NM_001164508.2(NEB):c.19016G>A (p.Gly6339Asp)
|
|
|
|
NM_001164508.2(NEB):c.19030C>A (p.Gln6344Lys)
|
|
|
|
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter)
|
rs1559940778
|
|
|
NM_001164508.2(NEB):c.19032A>G (p.Gln6344=)
|
rs1456812374
|
|
|
NM_001164508.2(NEB):c.19036_19057del (p.Tyr6346fs)
|
|
|
|
NM_001164508.2(NEB):c.19041T>C (p.Asn6347=)
|
rs2153703352
|
|
|
NM_001164508.2(NEB):c.19047C>G (p.Val6349=)
|
|
|
|
NM_001164508.2(NEB):c.19050A>C (p.Thr6350=)
|
rs2096024287
|
|
|
NM_001164508.2(NEB):c.19055C>G (p.Thr6352Arg)
|
|
|
|
NM_001164508.2(NEB):c.19055C>T (p.Thr6352Met)
|
|
|
|
NM_001164508.2(NEB):c.19056G>A (p.Thr6352=)
|
rs115631125
|
|
|
NM_001164508.2(NEB):c.19057C>T (p.Pro6353Ser)
|
|
|
|
NM_001164508.2(NEB):c.1905C>G (p.Tyr635Ter)
|
|
|
|
NM_001164508.2(NEB):c.19064A>G (p.Tyr6355Cys)
|
rs968608271
|
|
|
NM_001164508.2(NEB):c.19065T>C (p.Tyr6355=)
|
rs2153703224
|
|
|
NM_001164508.2(NEB):c.19068G>A (p.Val6356=)
|
rs2096022831
|
|
|
NM_001164508.2(NEB):c.19075G>C (p.Val6359Leu)
|
|
|
|
NM_001164508.2(NEB):c.19078C>T (p.Gln6360Ter)
|
rs2153703181
|
|
|
NM_001164508.2(NEB):c.19086C>A (p.Gly6362=)
|
rs914386216
|
|
|
NM_001164508.2(NEB):c.19086C>T (p.Gly6362=)
|
|
|
|
NM_001164508.2(NEB):c.19092T>A (p.Asn6364Lys)
|
rs2096022022
|
|
|
NM_001164508.2(NEB):c.19097G>A (p.Ser6366Asn)
|
rs191579691
|
|
|
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile)
|
rs191579691
|
|
|
NM_001164508.2(NEB):c.19101+13G>A
|
|
|
|
NM_001164508.2(NEB):c.19101+18C>T
|
rs988730874
|
|
|
NM_001164508.2(NEB):c.19101+1G>A
|
|
|
|
NM_001164508.2(NEB):c.19102-10_19102-4del
|
rs1577576425
|
|
|
NM_001164508.2(NEB):c.19102-12G>T
|
|
|
|
NM_001164508.2(NEB):c.19102-15G>A
|
|
|
|
NM_001164508.2(NEB):c.19102-15G>T
|
|
|
|
NM_001164508.2(NEB):c.19102-16T>G
|
|
|
|
NM_001164508.2(NEB):c.19102-9T>C
|
rs1357577227
|
|
|
NM_001164508.2(NEB):c.19102G>A (p.Val6368Ile)
|
|
|
|
NM_001164508.2(NEB):c.19104A>C (p.Val6368=)
|
rs1577576100
|
|
|
NM_001164508.2(NEB):c.19131T>A (p.Ile6377=)
|
|
|
|
NM_001164508.2(NEB):c.19131T>C (p.Ile6377=)
|
|
|
|
NM_001164508.2(NEB):c.19132A>G (p.Lys6378Glu)
|
|
|
|
NM_001164508.2(NEB):c.19137C>T (p.Asp6379=)
|
rs778962225
|
|
|
NM_001164508.2(NEB):c.19142A>G (p.Tyr6381Cys)
|
|
|
|
NM_001164508.2(NEB):c.19143C>T (p.Tyr6381=)
|
rs2153702327
|
|
|
NM_001164508.2(NEB):c.19144A>G (p.Thr6382Ala)
|
|
|
|
NM_001164508.2(NEB):c.19149A>T (p.Thr6383=)
|
|
|
|
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)
|
rs2153702280
|
|
|
NM_001164508.2(NEB):c.1916A>G (p.Tyr639Cys)
|
rs1559315113
|
|
|
NM_001164508.2(NEB):c.19170T>C (p.Tyr6390=)
|
rs1377275105
|
|
|
NM_001164508.2(NEB):c.19179C>G (p.Thr6393=)
|
|
|
|
NM_001164508.2(NEB):c.19188G>A (p.Leu6396=)
|
rs2153702177
|
|
|
NM_001164508.2(NEB):c.19191G>A (p.Lys6397=)
|
rs2153702171
|
|
|
NM_001164508.2(NEB):c.19194T>C (p.Asn6398=)
|
rs2153702166
|
|
|
NM_001164508.2(NEB):c.19197T>C (p.Leu6399=)
|
|
|
|
NM_001164508.2(NEB):c.19198T>C (p.Tyr6400His)
|
|
|
|
NM_001164508.2(NEB):c.19206+10G>A
|
|
|
|
NM_001164508.2(NEB):c.19206+14T>A
|
|
|
|
NM_001164508.2(NEB):c.19206+14T>C
|
|
|
|
NM_001164508.2(NEB):c.19206+16T>C
|
|
|
|
NM_001164508.2(NEB):c.19206+17T>A
|
|
|
|
NM_001164508.2(NEB):c.19206+17T>C
|
|
|
|
NM_001164508.2(NEB):c.19206+18T>C
|
rs771605004
|
|
|
NM_001164508.2(NEB):c.19206+18T>G
|
rs771605004
|
|
|
NM_001164508.2(NEB):c.19206+18del
|
rs761735803
|
|
|
NM_001164508.2(NEB):c.19206+18dup
|
|
|
|
NM_001164508.2(NEB):c.19206+19C>T
|
|
|
|
NM_001164508.2(NEB):c.19206+7T>A
|
|
|
|
NM_001164508.2(NEB):c.19207-16T>A
|
|
|
|
NM_001164508.2(NEB):c.19207-17G>A
|
|
|
|
NM_001164508.2(NEB):c.19207-17G>T
|
|
|
|
NM_001164508.2(NEB):c.19207-20_19207-18del
|
rs768751352
|
|
|
NM_001164508.2(NEB):c.19207-6C>A
|
rs1467246404
|
|
|
NM_001164508.2(NEB):c.19207-7C>T
|
|
|
|
NM_001164508.2(NEB):c.19209C>T (p.Asn6403=)
|
|
|
|
NM_001164508.2(NEB):c.1920_1921delinsTT (p.Glu640_Lys641delinsAspTer)
|
|
|
|
NM_001164508.2(NEB):c.19210C>G (p.Leu6404Val)
|
|
|
|
NM_001164508.2(NEB):c.19211T>C (p.Leu6404Pro)
|
|
|
|
NM_001164508.2(NEB):c.19212G>A (p.Leu6404=)
|
rs1214330371
|
|
|
NM_001164508.2(NEB):c.19214dup (p.Tyr6405Ter)
|
|
|
|
NM_001164508.2(NEB):c.19215C>T (p.Tyr6405=)
|
rs767017098
|
|
|
NM_001164508.2(NEB):c.19223C>T (p.Ala6408Val)
|
|
|
|
NM_001164508.2(NEB):c.19224C>T (p.Ala6408=)
|
|
|
|
NM_001164508.2(NEB):c.19232G>C (p.Arg6411Thr)
|
|
|
|
NM_001164508.2(NEB):c.19234G>T (p.Val6412Leu)
|
rs2095980616
|
|
|
NM_001164508.2(NEB):c.19245C>G (p.Thr6415=)
|
rs967486464
|
|
|
NM_001164508.2(NEB):c.1924A>G (p.Thr642Ala)
|
|
|
|
NM_001164508.2(NEB):c.19251C>T (p.Tyr6417=)
|
|
|
|
NM_001164508.2(NEB):c.19254C>T (p.Ile6418=)
|
rs2095979199
|
|
|
NM_001164508.2(NEB):c.1925C>A (p.Thr642Lys)
|
|
|
|
NM_001164508.2(NEB):c.19275C>T (p.Ser6425=)
|
rs746083931
|
|
|
NM_001164508.2(NEB):c.19283_19284del (p.His6428fs)
|
|
|
|
NM_001164508.2(NEB):c.19284C>G (p.His6428Gln)
|
rs201005449
|
|
|
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn)
|
rs796065338
|
|
|
NM_001164508.2(NEB):c.19286C>T (p.Ala6429Val)
|
|
|
|
NM_001164508.2(NEB):c.19293C>T (p.Asn6431=)
|
rs2153700140
|
|
|
NM_001164508.2(NEB):c.19294C>T (p.Gln6432Ter)
|
rs2153700128
|
|
|
NM_001164508.2(NEB):c.1929G>A (p.Lys643=)
|
|
|
|
NM_001164508.2(NEB):c.19301A>C (p.His6434Pro)
|
rs1577553776
|
|
|
NM_001164508.2(NEB):c.19314+14A>G
|
|
|
|
NM_001164508.2(NEB):c.19314+17C>T
|
|
|
|
NM_001164508.2(NEB):c.19314+18A>G
|
|
|
|
NM_001164508.2(NEB):c.19314+20G>A
|
|
|
|
NM_001164508.2(NEB):c.19314+20G>T
|
|
|
|
NM_001164508.2(NEB):c.19314+7A>T
|
rs2153700039
|
|
|
NM_001164508.2(NEB):c.19315-3T>C
|
rs756491764
|
|
|
NM_001164508.2(NEB):c.19315-6C>T
|
|
|
|
NM_001164508.2(NEB):c.19315-8C>G
|
|
|
|
NM_001164508.2(NEB):c.19317C>A (p.Ile6439=)
|
|
|
|
NM_001164508.2(NEB):c.1932A>G (p.Ala644=)
|
rs1220980810
|
|
|
NM_001164508.2(NEB):c.19335T>C (p.Tyr6445=)
|
rs1412742054
|
|
|
NM_001164508.2(NEB):c.19337A>G (p.Glu6446Gly)
|
rs2153666324
|
|
|
NM_001164508.2(NEB):c.1933_1934del (p.Lys645fs)
|
rs2149172715
|
|
|
NM_001164508.2(NEB):c.1934A>G (p.Lys645Arg)
|
|
|
|
NM_001164508.2(NEB):c.19350T>C (p.Ala6450=)
|
rs1351602890
|
|
|
NM_001164508.2(NEB):c.19356T>C (p.Tyr6452=)
|
rs761666021
|
|
|
NM_001164508.2(NEB):c.19357A>G (p.Thr6453Ala)
|
rs968182845
|
|
|
NM_001164508.2(NEB):c.19359G>A (p.Thr6453=)
|
rs1382610541
|
|
|
NM_001164508.2(NEB):c.1935G>A (p.Lys645=)
|
rs2149172557
|
|
|
NM_001164508.2(NEB):c.19360T>C (p.Leu6454=)
|
|
|
|
NM_001164508.2(NEB):c.19362A>G (p.Leu6454=)
|
rs2153666184
|
|
|
NM_001164508.2(NEB):c.19371T>C (p.Ser6457=)
|
|
|
|
NM_001164508.2(NEB):c.19371T>G (p.Ser6457Arg)
|
|
|
|
NM_001164508.2(NEB):c.19382_19383delinsTG (p.Asp6461Val)
|
|
|
|
NM_001164508.2(NEB):c.19384_19387del (p.Pro6462fs)
|
|
|
|
NM_001164508.2(NEB):c.19392A>G (p.Thr6464=)
|
|
|
|
NM_001164508.2(NEB):c.19396C>T (p.Arg6466Trp)
|
|
|
|
NM_001164508.2(NEB):c.19397G>A (p.Arg6466Gln)
|
rs747425038
|
|
|
NM_001164508.2(NEB):c.19398G>A (p.Arg6466=)
|
rs867834427
|
|
|
NM_001164508.2(NEB):c.19400G>C (p.Cys6467Ser)
|
rs1577306997
|
|
|
NM_001164508.2(NEB):c.19406G>C (p.Arg6469Pro)
|
rs556624010
|
|
|
NM_001164508.2(NEB):c.19410T>G (p.Val6470=)
|
|
|
|
NM_001164508.2(NEB):c.19422C>T (p.Asn6474=)
|
|
|
|
NM_001164508.2(NEB):c.19428+11T>G
|
|
|
|
NM_001164508.2(NEB):c.19428+12C>T
|
|
|
|
NM_001164508.2(NEB):c.19428+14T>A
|
|
|
|
NM_001164508.2(NEB):c.19428+14T>C
|
|
|
|
NM_001164508.2(NEB):c.19428+16C>A
|
|
|
|
NM_001164508.2(NEB):c.19428+16C>T
|
rs1022784479
|
|
|
NM_001164508.2(NEB):c.19428+17G>A
|
|
|
|
NM_001164508.2(NEB):c.19428+19C>T
|
|
|
|
NM_001164508.2(NEB):c.19428+8C>A
|
rs773614835
|
|
|
NM_001164508.2(NEB):c.19428+8C>T
|
rs773614835
|
|
|
NM_001164508.2(NEB):c.19428T>C (p.Asp6476=)
|
rs1390912272
|
|
|
NM_001164508.2(NEB):c.19429-11dup
|
|
|
|
NM_001164508.2(NEB):c.19429-18G>A
|
|
|
|
NM_001164508.2(NEB):c.19429-20A>T
|
|
|
|
NM_001164508.2(NEB):c.19429-7T>C
|
rs561767644
|
|
|
NM_001164508.2(NEB):c.19429C>A (p.Arg6477Ser)
|
|
|
|
NM_001164508.2(NEB):c.19429C>T (p.Arg6477Cys)
|
rs765181095
|
|
|
NM_001164508.2(NEB):c.19431C>A (p.Arg6477=)
|
rs991196845
|
|
|
NM_001164508.2(NEB):c.19431C>G (p.Arg6477=)
|
rs991196845
|
|
|
NM_001164508.2(NEB):c.19434G>A (p.Leu6478=)
|
|
|
|
NM_001164508.2(NEB):c.19436A>G (p.Tyr6479Cys)
|
|
|
|
NM_001164508.2(NEB):c.19443A>G (p.Ser6481=)
|
|
|
|
NM_001164508.2(NEB):c.19470C>A (p.Ile6490=)
|
|
|
|
NM_001164508.2(NEB):c.19470C>T (p.Ile6490=)
|
|
|
|
NM_001164508.2(NEB):c.19479G>A (p.Val6493=)
|
rs1371784327
|
|
|
NM_001164508.2(NEB):c.19482C>G (p.Pro6494=)
|
|
|
|
NM_001164508.2(NEB):c.1948T>C (p.Cys650Arg)
|
|
|
|
NM_001164508.2(NEB):c.19491A>T (p.Val6497=)
|
|
|
|
NM_001164508.2(NEB):c.19494G>A (p.Glu6498=)
|
rs2153660479
|
|
|
NM_001164508.2(NEB):c.19495A>G (p.Met6499Val)
|
rs2095482134
|
|
|
NM_001164508.2(NEB):c.19496T>C (p.Met6499Thr)
|
|
|
|
NM_001164508.2(NEB):c.19499T>G (p.Val6500Gly)
|
|
|
|
NM_001164508.2(NEB):c.1949G>A (p.Cys650Tyr)
|
|
|
|
NM_001164508.2(NEB):c.19506C>T (p.Ala6502=)
|
rs1011926091
|
|
|
NM_001164508.2(NEB):c.19511A>T (p.Asp6504Val)
|
|
|
|
NM_001164508.2(NEB):c.19519A>T (p.Lys6507Ter)
|
|
|
|
NM_001164508.2(NEB):c.19529G>A (p.Ser6510Asn)
|
|
|
|
NM_001164508.2(NEB):c.1952A>T (p.Glu651Val)
|
rs1553592436
|
|
|
NM_001164508.2(NEB):c.19530T>C (p.Ser6510=)
|
rs1205003159
|
|
|
NM_001164508.2(NEB):c.19534A>G (p.Ile6512Val)
|
rs2095480638
|
|
|
NM_001164508.2(NEB):c.19542C>T (p.Tyr6514=)
|
|
|
|
NM_001164508.2(NEB):c.19546C>T (p.Leu6516=)
|
|
|
|
NM_001164508.2(NEB):c.19548G>A (p.Leu6516=)
|
rs2153660221
|
|
|
NM_001164508.2(NEB):c.19549C>T (p.Arg6517Cys)
|
|
|
|
NM_001164508.2(NEB):c.19566T>C (p.Ile6522=)
|
|
|
|
NM_001164508.2(NEB):c.19569C>T (p.Cys6523=)
|
rs1577263927
|
|
|
NM_001164508.2(NEB):c.1956C>T (p.Thr652=)
|
|
|
|
NM_001164508.2(NEB):c.19575del (p.Asp6526fs)
|
|
|
|
NM_001164508.2(NEB):c.19579T>C (p.Leu6527=)
|
rs2153660059
|
|
|
NM_001164508.2(NEB):c.19581G>A (p.Leu6527=)
|
rs371019748
|
|
|
NM_001164508.2(NEB):c.19583A>C (p.Gln6528Pro)
|
rs2153660026
|
|
|
NM_001164508.2(NEB):c.19583A>G (p.Gln6528Arg)
|
|
|
|
NM_001164508.2(NEB):c.19599C>G (p.Val6533=)
|
|
|
|
NM_001164508.2(NEB):c.195G>C (p.Pro65=)
|
rs79524813
|
|
|
NM_001164508.2(NEB):c.19603A>G (p.Lys6535Glu)
|
rs898837153
|
|
|
NM_001164508.2(NEB):c.19604A>G (p.Lys6535Arg)
|
|
|
|
NM_001164508.2(NEB):c.19608C>T (p.Val6536=)
|
rs1483543704
|
|
|
NM_001164508.2(NEB):c.19620C>T (p.Ile6540=)
|
rs2153659870
|
|
|
NM_001164508.2(NEB):c.19621del (p.Ser6541fs)
|
rs2153659861
|
|
|
NM_001164508.2(NEB):c.19623C>T (p.Ser6541=)
|
rs2095477737
|
|
|
NM_001164508.2(NEB):c.19624_19625insGTA (p.Asp6542delinsGlyAsn)
|
rs2153659819
|
|
|
NM_001164508.2(NEB):c.19626+10T>C
|
rs2153659730
|
|
|
NM_001164508.2(NEB):c.19626+13C>T
|
|
|
|
NM_001164508.2(NEB):c.19626+1G>A
|
rs756352186
|
|
|
NM_001164508.2(NEB):c.19626+7C>T
|
|
|
|
NM_001164508.2(NEB):c.19627-15A>G
|
|
|
|
NM_001164508.2(NEB):c.19627-19T>A
|
rs2153658052
|
|
|
NM_001164508.2(NEB):c.19627-4C>G
|
|
|
|
NM_001164508.2(NEB):c.19627-7C>T
|
|
|
|
NM_001164508.2(NEB):c.19627-9A>T
|
|
|
|
NM_001164508.2(NEB):c.19629T>C (p.Ile6543=)
|
rs2153657821
|
|
|
NM_001164508.2(NEB):c.19632A>G (p.Val6544=)
|
rs2095452627
|
|
|
NM_001164508.2(NEB):c.19635C>A (p.Tyr6545Ter)
|
rs1335300113
|
|
|
NM_001164508.2(NEB):c.19635C>G (p.Tyr6545Ter)
|
rs1335300113
|
|
|
NM_001164508.2(NEB):c.19647C>T (p.Leu6549=)
|
rs2153657724
|
|
|
NM_001164508.2(NEB):c.19653G>A (p.Trp6551Ter)
|
rs2153657682
|
|
|
NM_001164508.2(NEB):c.1965T>C (p.Tyr655=)
|
rs1576524196
|
|
|
NM_001164508.2(NEB):c.19671C>T (p.Cys6557=)
|
|
|
|
NM_001164508.2(NEB):c.19687C>A (p.Pro6563Thr)
|
|
|
|
NM_001164508.2(NEB):c.19698C>G (p.Leu6566=)
|
rs776472016
|
|
|
NM_001164508.2(NEB):c.19698C>T (p.Leu6566=)
|
|
|
|
NM_001164508.2(NEB):c.19700A>G (p.His6567Arg)
|
|
|
|
NM_001164508.2(NEB):c.19704C>G (p.Ala6568=)
|
rs760335435
|
|
|
NM_001164508.2(NEB):c.19711_19714del (p.Ala6571fs)
|
rs1577244250
|
|
|
NM_001164508.2(NEB):c.19713T>C (p.Ala6571=)
|
|
|
|
NM_001164508.2(NEB):c.19715A>G (p.Tyr6572Cys)
|
|
|
|
NM_001164508.2(NEB):c.19724G>T (p.Arg6575Leu)
|
rs185999504
|
|
|
NM_001164508.2(NEB):c.19728T>A (p.Asp6576Glu)
|
|
|
|
NM_001164508.2(NEB):c.19729G>A (p.Asp6577Asn)
|
rs2095448833
|
|
|
NM_001164508.2(NEB):c.19731+10C>T
|
rs766652014
|
|
|
NM_001164508.2(NEB):c.19731+15T>A
|
|
|
|
NM_001164508.2(NEB):c.19731T>C (p.Asp6577=)
|
|
|
|
NM_001164508.2(NEB):c.19732-15T>C
|
|
|
|
NM_001164508.2(NEB):c.19732-15del
|
|
|
|
NM_001164508.2(NEB):c.19732-5G>C
|
rs779841022
|
|
|
NM_001164508.2(NEB):c.19736A>G (p.Lys6579Arg)
|
|
|
|
NM_001164508.2(NEB):c.19740T>C (p.Tyr6580=)
|
|
|
|
NM_001164508.2(NEB):c.19751T>C (p.Met6584Thr)
|
rs190605644
|
|
|
NM_001164508.2(NEB):c.19751_19752delinsGA (p.Met6584Arg)
|
rs2153654002
|
|
|
NM_001164508.2(NEB):c.19756A>G (p.Lys6586Glu)
|
rs2153653983
|
|
|
NM_001164508.2(NEB):c.19763G>A (p.Arg6588Lys)
|
|
|
|
NM_001164508.2(NEB):c.19773C>T (p.Tyr6591=)
|
|
|
|
NM_001164508.2(NEB):c.19776G>A (p.Lys6592=)
|
|
|
|
NM_001164508.2(NEB):c.19779T>C (p.Leu6593=)
|
|
|
|
NM_001164508.2(NEB):c.19782C>T (p.Val6594=)
|
rs1475066401
|
|
|
NM_001164508.2(NEB):c.19785A>T (p.Thr6595=)
|
rs1248765978
|
|
|
NM_001164508.2(NEB):c.19794A>C (p.Pro6598=)
|
rs2153653816
|
|
|
NM_001164508.2(NEB):c.19799A>T (p.Tyr6600Phe)
|
rs2095412773
|
|
|
NM_001164508.2(NEB):c.1980G>A (p.Gln660=)
|
rs2149170729
|
|
|
NM_001164508.2(NEB):c.19812C>T (p.Val6604=)
|
rs2095412277
|
|
|
NM_001164508.2(NEB):c.19813A>T (p.Lys6605Ter)
|
|
|
|
NM_001164508.2(NEB):c.19814A>G (p.Lys6605Arg)
|
rs2095412206
|
|
|
NM_001164508.2(NEB):c.19821G>A (p.Gly6607=)
|
rs2095412128
|
|
|
NM_001164508.2(NEB):c.19826A>T (p.Gln6609Leu)
|
rs1553730155
|
|
|
NM_001164508.2(NEB):c.19836+17G>A
|
|
|
|
NM_001164508.2(NEB):c.19836+1del
|
|
|
|
NM_001164508.2(NEB):c.19836+6T>C
|
rs2153653644
|
|
|
NM_001164508.2(NEB):c.19836+7G>A
|
|
|
|
NM_001164508.2(NEB):c.19837-15T>C
|
|
|
|
NM_001164508.2(NEB):c.19837-19A>G
|
|
|
|
NM_001164508.2(NEB):c.19837-20A>C
|
|
|
|
NM_001164508.2(NEB):c.19837-6C>T
|
|
|
|
NM_001164508.2(NEB):c.19837-9C>T
|
|
|
|
NM_001164508.2(NEB):c.1983G>A (p.Leu661=)
|
rs2099557939
|
|
|
NM_001164508.2(NEB):c.19840G>C (p.Val6614Leu)
|
|
|
|
NM_001164508.2(NEB):c.19842C>G (p.Val6614=)
|
rs2153648091
|
|
|
NM_001164508.2(NEB):c.19848C>T (p.His6616=)
|
rs910831381
|
|
|
NM_001164508.2(NEB):c.19851T>A (p.Tyr6617Ter)
|
rs2095359371
|
|
|
NM_001164508.2(NEB):c.19857T>C (p.Tyr6619=)
|
rs2153648002
|
|
|
NM_001164508.2(NEB):c.19866T>C (p.Ser6622=)
|
rs766226656
|
|
|
NM_001164508.2(NEB):c.19868T>G (p.Val6623Gly)
|
|
|
|
NM_001164508.2(NEB):c.19869C>G (p.Val6623=)
|
|
|
|
NM_001164508.2(NEB):c.1986G>A (p.Lys662=)
|
|
|
|
NM_001164508.2(NEB):c.19893C>G (p.Thr6631=)
|
rs1477499693
|
|
|
NM_001164508.2(NEB):c.19897del (p.Thr6633fs)
|
rs2153647734
|
|
|
NM_001164508.2(NEB):c.198G>A (p.Val66=)
|
|
|
|
NM_001164508.2(NEB):c.198G>C (p.Val66=)
|
rs2150921386
|
|
|
NM_001164508.2(NEB):c.19900G>A (p.Val6634Met)
|
|
|
|
NM_001164508.2(NEB):c.19904_19914del (p.Asp6635fs)
|
|
|
|
NM_001164508.2(NEB):c.19912C>A (p.Arg6638=)
|
|
|
|
NM_001164508.2(NEB):c.19912C>T (p.Arg6638Trp)
|
rs771483221
|
|
|
NM_001164508.2(NEB):c.19915G>A (p.Ala6639Thr)
|
rs2095356884
|
|
|
NM_001164508.2(NEB):c.19915del (p.Ala6639fs)
|
rs2153647595
|
|
|
NM_001164508.2(NEB):c.19916C>A (p.Ala6639Asp)
|
rs2153647567
|
|
|
NM_001164508.2(NEB):c.19918C>T (p.Leu6640Phe)
|
rs2095356788
|
|
|
NM_001164508.2(NEB):c.19919T>C (p.Leu6640Pro)
|
|
|
|
NM_001164508.2(NEB):c.19923T>C (p.His6641=)
|
|
|
|
NM_001164508.2(NEB):c.19923T>G (p.His6641Gln)
|
rs773870323
|
|
|
NM_001164508.2(NEB):c.19925C>T (p.Ala6642Val)
|
|
|
|
NM_001164508.2(NEB):c.19926A>C (p.Ala6642=)
|
|
|
|
NM_001164508.2(NEB):c.19929C>G (p.Tyr6643Ter)
|
rs1440532058
|
|
|
NM_001164508.2(NEB):c.19929C>T (p.Tyr6643=)
|
|
|
|
NM_001164508.2(NEB):c.19934T>G (p.Leu6645Arg)
|
|
|
|
NM_001164508.2(NEB):c.19935C>T (p.Leu6645=)
|
rs2153647443
|
|
|
NM_001164508.2(NEB):c.19936C>T (p.Gln6646Ter)
|
|
|
|
NM_001164508.2(NEB):c.19938G>A (p.Gln6646=)
|
rs748541129
|
|
|
NM_001164508.2(NEB):c.19943C>T (p.Ser6648Leu)
|
|
|
|
NM_001164508.2(NEB):c.19944+17T>A
|
|
|
|
NM_001164508.2(NEB):c.19944+18G>A
|
|
|
|
NM_001164508.2(NEB):c.19944+6_19944+12del
|
rs2153647219
|
|
|
NM_001164508.2(NEB):c.19945-10A>G
|
rs2153633331
|
|
|
NM_001164508.2(NEB):c.19945-10A>T
|
|
|
|
NM_001164508.2(NEB):c.19945-18T>C
|
|
|
|
NM_001164508.2(NEB):c.19945-2A>C
|
rs113473971
|
|
|
NM_001164508.2(NEB):c.19945-3C>G
|
rs1206840358
|
|
|
NM_001164508.2(NEB):c.19945-6C>T
|
|
|
|
NM_001164508.2(NEB):c.19945-9T>A
|
|
|
|
NM_001164508.2(NEB):c.1994G>T (p.Ser665Ile)
|
|
|
|
NM_001164508.2(NEB):c.19950A>C (p.Leu6650=)
|
rs2153633228
|
|
|
NM_001164508.2(NEB):c.19959del (p.Ser6654fs)
|
|
|
|
NM_001164508.2(NEB):c.19962C>T (p.Ser6654=)
|
rs2153633182
|
|
|
NM_001164508.2(NEB):c.19968C>T (p.Arg6656=)
|
|
|
|
NM_001164508.2(NEB):c.19971C>T (p.Thr6657=)
|
|
|
|
NM_001164508.2(NEB):c.19976C>G (p.Pro6659Arg)
|
rs2153633083
|
|
|
NM_001164508.2(NEB):c.19977C>T (p.Pro6659=)
|
rs2153633071
|
|
|
NM_001164508.2(NEB):c.1998+10G>C
|
|
|
|
NM_001164508.2(NEB):c.1998+14C>T
|
|
|
|
NM_001164508.2(NEB):c.1998+18T>C
|
|
|
|
NM_001164508.2(NEB):c.1998+7A>G
|
rs2149169724
|
|
|
NM_001164508.2(NEB):c.19981G>C (p.Gly6661Arg)
|
|
|
|
NM_001164508.2(NEB):c.19983A>C (p.Gly6661=)
|
|
|
|
NM_001164508.2(NEB):c.19986T>C (p.Tyr6662=)
|
|
|
|
NM_001164508.2(NEB):c.19988del (p.Arg6663fs)
|
|
|
|
NM_001164508.2(NEB):c.1999-17T>C
|
|
|
|
NM_001164508.2(NEB):c.20003C>G (p.Thr6668Ser)
|
rs2153632972
|
|
|
NM_001164508.2(NEB):c.20004T>G (p.Thr6668=)
|
rs2153632963
|
|
|
NM_001164508.2(NEB):c.20013C>T (p.Phe6671=)
|
rs2095138509
|
|
|
NM_001164508.2(NEB):c.20018A>C (p.His6673Pro)
|
rs763237724
|
|
|
NM_001164508.2(NEB):c.2001T>G (p.Ala667=)
|
|
|
|
NM_001164508.2(NEB):c.20021_20023del (p.Ile6674del)
|
rs1577105410
|
|
|
NM_001164508.2(NEB):c.20034T>C (p.Arg6678=)
|
|
|
|
NM_001164508.2(NEB):c.20037C>T (p.Tyr6679=)
|
|
|
|
NM_001164508.2(NEB):c.20038A>G (p.Met6680Val)
|
rs1265237421
|
|
|
NM_001164508.2(NEB):c.20044A>G (p.Ser6682Gly)
|
|
|
|
NM_001164508.2(NEB):c.20046T>C (p.Ser6682=)
|
|
|
|
NM_001164508.2(NEB):c.20049+10C>G
|
rs2153632695
|
|
|
NM_001164508.2(NEB):c.20049+12C>T
|
|
|
|
NM_001164508.2(NEB):c.20049+13C>T
|
|
|
|
NM_001164508.2(NEB):c.20049+15C>A
|
|
|
|
NM_001164508.2(NEB):c.20049+15C>T
|
rs747465260
|
|
|
NM_001164508.2(NEB):c.20049+20T>C
|
|
|
|
NM_001164508.2(NEB):c.20049+2T>A
|
|
|
|
NM_001164508.2(NEB):c.20049+7G>A
|
rs2153632752
|
|
|
NM_001164508.2(NEB):c.20049+9T>C
|
rs2153632713
|
|
|
NM_001164508.2(NEB):c.2004A>G (p.Arg668=)
|
|
|
|
NM_001164508.2(NEB):c.20050-11T>C
|
|
|
|
NM_001164508.2(NEB):c.20050-20T>C
|
|
|
|
NM_001164508.2(NEB):c.20050-3C>T
|
|
|
|
NM_001164508.2(NEB):c.20050-5T>G
|
|
|
|
NM_001164508.2(NEB):c.20056T>C (p.Tyr6686His)
|
rs2153624429
|
|
|
NM_001164508.2(NEB):c.20079C>A (p.Thr6693=)
|
|
|
|
NM_001164508.2(NEB):c.20082G>A (p.Lys6694=)
|
|
|
|
NM_001164508.2(NEB):c.20083G>C (p.Ala6695Pro)
|
|
|
|
NM_001164508.2(NEB):c.20085A>G (p.Ala6695=)
|
|
|
|
NM_001164508.2(NEB):c.20087A>G (p.Tyr6696Cys)
|
|
|
|
NM_001164508.2(NEB):c.20088T>C (p.Tyr6696=)
|
rs2153624203
|
|
|
NM_001164508.2(NEB):c.20104C>T (p.Pro6702Ser)
|
|
|
|
NM_001164508.2(NEB):c.20106C>T (p.Pro6702=)
|
rs1553717815
|
|
|
NM_001164508.2(NEB):c.20108A>G (p.Lys6703Arg)
|
|
|
|
NM_001164508.2(NEB):c.20118A>G (p.Pro6706=)
|
|
|
|
NM_001164508.2(NEB):c.2011G>C (p.Asp671His)
|
|
|
|
NM_001164508.2(NEB):c.20124C>T (p.Val6708=)
|
|
|
|
NM_001164508.2(NEB):c.20133G>C (p.Arg6711=)
|
|
|
|
NM_001164508.2(NEB):c.20137G>C (p.Val6713Leu)
|
|
|
|
NM_001164508.2(NEB):c.20139C>T (p.Val6713=)
|
|
|
|
NM_001164508.2(NEB):c.2013C>G (p.Asp671Glu)
|
|
|
|
NM_001164508.2(NEB):c.2013C>T (p.Asp671=)
|
|
|
|
NM_001164508.2(NEB):c.20145T>C (p.Asn6715=)
|
|
|
|
NM_001164508.2(NEB):c.20157+10T>A
|
rs1577064555
|
|
|
NM_001164508.2(NEB):c.20157+1G>A
|
|
|
|
NM_001164508.2(NEB):c.20157+20C>T
|
|
|
|
NM_001164508.2(NEB):c.20157+7G>A
|
|
|
|
NM_001164508.2(NEB):c.20157+8A>C
|
rs2153623453
|
|
|
NM_001164508.2(NEB):c.20158-18A>T
|
|
|
|
NM_001164508.2(NEB):c.20158-19_20158-17del
|
|
|
|
NM_001164508.2(NEB):c.20158-4G>A
|
rs568113302
|
|
|
NM_001164508.2(NEB):c.20165A>T (p.Tyr6722Phe)
|
rs2153618365
|
|
|
NM_001164508.2(NEB):c.20166T>C (p.Tyr6722=)
|
|
|
|
NM_001164508.2(NEB):c.20167C>T (p.Arg6723Trp)
|
|
|
|
NM_001164508.2(NEB):c.20168G>A (p.Arg6723Gln)
|
|
|
|
NM_001164508.2(NEB):c.20169G>C (p.Arg6723=)
|
rs959967237
|
|
|
NM_001164508.2(NEB):c.20175G>C (p.Leu6725Phe)
|
|
|
|
NM_001164508.2(NEB):c.2017T>C (p.Tyr673His)
|
|
|
|
NM_001164508.2(NEB):c.20191G>T (p.Asp6731Tyr)
|
|
|
|
NM_001164508.2(NEB):c.20193C>T (p.Asp6731=)
|
rs2153618208
|
|
|
NM_001164508.2(NEB):c.20195A>G (p.Lys6732Arg)
|
|
|
|
NM_001164508.2(NEB):c.20199C>T (p.Ile6733=)
|
rs1322022679
|
|
|
NM_001164508.2(NEB):c.20202T>C (p.His6734=)
|
|
|
|
NM_001164508.2(NEB):c.20205A>C (p.Thr6735=)
|
|
|
|
NM_001164508.2(NEB):c.20205A>G (p.Thr6735=)
|
rs2153618102
|
|
|
NM_001164508.2(NEB):c.20208T>C (p.Thr6736=)
|
|
|
|
NM_001164508.2(NEB):c.20211C>G (p.Pro6737=)
|
rs771038288
|
|
|
NM_001164508.2(NEB):c.20213dup (p.Asp6738fs)
|
|
|
|
NM_001164508.2(NEB):c.20214T>C (p.Asp6738=)
|
rs777778977
|
|
|
NM_001164508.2(NEB):c.20216C>T (p.Thr6739Ile)
|
|
|
|
NM_001164508.2(NEB):c.20217C>T (p.Thr6739=)
|
rs2153617890
|
|
|
NM_001164508.2(NEB):c.20220T>A (p.Pro6740=)
|
|
|
|
NM_001164508.2(NEB):c.20220T>C (p.Pro6740=)
|
|
|
|
NM_001164508.2(NEB):c.20225_20226del (p.Ile6742fs)
|
rs2153617810
|
|
|
NM_001164508.2(NEB):c.2022A>G (p.Val674=)
|
rs2149165360
|
|
|
NM_001164508.2(NEB):c.20238G>A (p.Lys6746=)
|
rs2153617736
|
|
|
NM_001164508.2(NEB):c.2023A>G (p.Lys675Glu)
|
rs767593840
|
|
|
NM_001164508.2(NEB):c.20241G>T (p.Lys6747Asn)
|
rs2153617719
|
|
|
NM_001164508.2(NEB):c.20244A>G (p.Thr6748=)
|
rs2153617704
|
|
|
NM_001164508.2(NEB):c.2024A>C (p.Lys675Thr)
|
|
|
|
NM_001164508.2(NEB):c.20253del (p.Val6752fs)
|
|
|
|
NM_001164508.2(NEB):c.20255T>G (p.Val6752Gly)
|
|
|
|
NM_001164508.2(NEB):c.20256C>T (p.Val6752=)
|
|
|
|
NM_001164508.2(NEB):c.20262+14T>C
|
|
|
|
NM_001164508.2(NEB):c.20262+18A>G
|
|
|
|
NM_001164508.2(NEB):c.20262+2T>C
|
|
|
|
NM_001164508.2(NEB):c.20262+2T>G
|
rs2153617573
|
|
|
NM_001164508.2(NEB):c.20262+8T>C
|
|
|
|
NM_001164508.2(NEB):c.20262+9T>C
|
|
|
|
NM_001164508.2(NEB):c.20263-12T>G
|
|
|
|
NM_001164508.2(NEB):c.20263-15T>C
|
|
|
|
NM_001164508.2(NEB):c.20263-16A>G
|
|
|
|
NM_001164508.2(NEB):c.20263-17T>A
|
|
|
|
NM_001164508.2(NEB):c.20263-7del
|
rs763008896
|
|
|
NM_001164508.2(NEB):c.20263-7dup
|
rs763008896
|
|
|
NM_001164508.2(NEB):c.20267T>C (p.Ile6756Thr)
|
|
|
|
NM_001164508.2(NEB):c.20269T>C (p.Tyr6757His)
|
|
|
|
NM_001164508.2(NEB):c.20280C>T (p.Asp6760=)
|
rs761933895
|
|
|
NM_001164508.2(NEB):c.20281_20282dup (p.Phe6762fs)
|
rs2094863263
|
|
|
NM_001164508.2(NEB):c.20286C>T (p.Phe6762=)
|
|
|
|
NM_001164508.2(NEB):c.20295G>A (p.Gln6765=)
|
|
|
|
NM_001164508.2(NEB):c.20298C>T (p.Gly6766=)
|
|
|
|
NM_001164508.2(NEB):c.20302A>G (p.Met6768Val)
|
rs780579848
|
|
|
NM_001164508.2(NEB):c.20302A>T (p.Met6768Leu)
|
|
|
|
NM_001164508.2(NEB):c.20308T>C (p.Ser6770Pro)
|
|
|
|
NM_001164508.2(NEB):c.20311_20312del (p.Leu6771fs)
|
|
|
|
NM_001164508.2(NEB):c.20315C>T (p.Pro6772Leu)
|
rs1559782362
|
|
|
NM_001164508.2(NEB):c.20316A>G (p.Pro6772=)
|
rs772552779
|
|
|
NM_001164508.2(NEB):c.20316A>T (p.Pro6772=)
|
rs772552779
|
|
|
NM_001164508.2(NEB):c.20319C>T (p.Tyr6773=)
|
rs2153615963
|
|
|
NM_001164508.2(NEB):c.20322A>T (p.Thr6774=)
|
|
|
|
NM_001164508.2(NEB):c.20323C>T (p.Pro6775Ser)
|
|
|
|
NM_001164508.2(NEB):c.20326del (p.Gln6776fs)
|
rs2153615926
|
|
|
NM_001164508.2(NEB):c.20327A>G (p.Gln6776Arg)
|
rs1377556613
|
|
|
NM_001164508.2(NEB):c.20341C>T (p.Arg6781Cys)
|
|
|
|
NM_001164508.2(NEB):c.20343C>T (p.Arg6781=)
|
rs1455500980
|
|
|
NM_001164508.2(NEB):c.20349G>A (p.Val6783=)
|
|
|
|
NM_001164508.2(NEB):c.20349G>T (p.Val6783=)
|
|
|
|
NM_001164508.2(NEB):c.20351G>C (p.Gly6784Ala)
|
|
|
|
NM_001164508.2(NEB):c.20352A>G (p.Gly6784=)
|
rs1166197657
|
|
|
NM_001164508.2(NEB):c.20359A>G (p.Thr6787Ala)
|
rs1028441065
|
|
|
NM_001164508.2(NEB):c.20360_20361insA (p.Ser6788fs)
|
rs2153615795
|
|
|
NM_001164508.2(NEB):c.20364T>C (p.Ser6788=)
|
rs2153615783
|
|
|
NM_001164508.2(NEB):c.20365G>A (p.Asp6789Asn)
|
|
|
|
NM_001164508.2(NEB):c.20367+11C>T
|
|
|
|
NM_001164508.2(NEB):c.20367+12G>A
|
|
|
|
NM_001164508.2(NEB):c.20367+12G>T
|
|
|
|
NM_001164508.2(NEB):c.20367+13T>G
|
|
|
|
NM_001164508.2(NEB):c.20367+18G>A
|
|
|
|
NM_001164508.2(NEB):c.20367+19T>A
|
|
|
|
NM_001164508.2(NEB):c.20367+3A>G
|
|
|
|
NM_001164508.2(NEB):c.20367+7A>G
|
rs1245262853
|
|
|
NM_001164508.2(NEB):c.20367+7A>T
|
rs1245262853
|
|
|
NM_001164508.2(NEB):c.20368-17C>T
|
|
|
|
NM_001164508.2(NEB):c.20368-18T>G
|
|
|
|
NM_001164508.2(NEB):c.20368-19T>G
|
|
|
|
NM_001164508.2(NEB):c.20368-20T>A
|
|
|
|
NM_001164508.2(NEB):c.20368-7C>G
|
rs2153608192
|
|
|
NM_001164508.2(NEB):c.20368-9G>A
|
rs2094696492
|
|
|
NM_001164508.2(NEB):c.20369T>A (p.Ile6790Asn)
|
|
|
|
NM_001164508.2(NEB):c.2037A>C (p.Gly679=)
|
|
|
|
NM_001164508.2(NEB):c.20384A>G (p.Asp6795Gly)
|
|
|
|
NM_001164508.2(NEB):c.20385C>G (p.Asp6795Glu)
|
rs2153608107
|
|
|
NM_001164508.2(NEB):c.20385C>T (p.Asp6795=)
|
rs2153608107
|
|
|
NM_001164508.2(NEB):c.20386T>C (p.Leu6796=)
|
|
|
|
NM_001164508.2(NEB):c.2038C>A (p.His680Asn)
|
rs773702715
|
|
|
NM_001164508.2(NEB):c.20394C>T (p.Val6798=)
|
|
|
|
NM_001164508.2(NEB):c.20395C>T (p.Leu6799=)
|
|
|
|
NM_001164508.2(NEB):c.20397G>T (p.Leu6799=)
|
rs750316684
|
|
|
NM_001164508.2(NEB):c.20401G>A (p.Gly6801Arg)
|
|
|
|
NM_001164508.2(NEB):c.20407G>A (p.Gly6803Ser)
|
|
|
|
NM_001164508.2(NEB):c.20417T>A (p.Leu6806Gln)
|
|
|
|
NM_001164508.2(NEB):c.20424C>T (p.Asp6808=)
|
|
|
|
NM_001164508.2(NEB):c.20425A>G (p.Thr6809Ala)
|
|
|
|
NM_001164508.2(NEB):c.20437G>T (p.Val6813Phe)
|
|
|
|
NM_001164508.2(NEB):c.20439C>G (p.Val6813=)
|
rs2094691380
|
|
|
NM_001164508.2(NEB):c.20441_20442del (p.Arg6814fs)
|
|
|
|
NM_001164508.2(NEB):c.20446C>G (p.Arg6816Gly)
|
rs780644697
|
|
|
NM_001164508.2(NEB):c.20446C>T (p.Arg6816Trp)
|
rs780644697
|
|
|
NM_001164508.2(NEB):c.20446_20447del (p.Arg6816fs)
|
|
|
|
NM_001164508.2(NEB):c.20446dup (p.Arg6816fs)
|
rs1559767662
|
|
|
NM_001164508.2(NEB):c.20447G>A (p.Arg6816Gln)
|
|
|
|
NM_001164508.2(NEB):c.20455C>T (p.Arg6819Trp)
|
|
|
|
NM_001164508.2(NEB):c.20456G>A (p.Arg6819Gln)
|
|
|
|
NM_001164508.2(NEB):c.20465G>C (p.Trp6822Ser)
|
rs2153607705
|
|
|
NM_001164508.2(NEB):c.20466+12T>C
|
|
|
|
NM_001164508.2(NEB):c.20466+13C>T
|
|
|
|
NM_001164508.2(NEB):c.20466+2T>A
|
|
|
|
NM_001164508.2(NEB):c.20466+5G>C
|
rs2094687409
|
|
|
NM_001164508.2(NEB):c.20466+8C>G
|
rs757210732
|
|
|
NM_001164508.2(NEB):c.20466+9A>C
|
|
|
|
NM_001164508.2(NEB):c.20466+9A>G
|
rs767636080
|
|
|
NM_001164508.2(NEB):c.20467-10_20467-9insTC
|
|
|
|
NM_001164508.2(NEB):c.20467-14T>G
|
|
|
|
NM_001164508.2(NEB):c.20467-14_20467-13insTG
|
rs769300777
|
|
|
NM_001164508.2(NEB):c.20467-15T>G
|
|
|
|
NM_001164508.2(NEB):c.20467-15_20467-14insG
|
|
|
|
NM_001164508.2(NEB):c.20467-15_20467-14insTG
|
|
|
|
NM_001164508.2(NEB):c.20467-16_20467-15insG
|
rs1553709365
|
|
|
NM_001164508.2(NEB):c.20467-16_20467-15insTG
|
|
|
|
NM_001164508.2(NEB):c.20467-17_20467-16insTG
|
|
|
|
NM_001164508.2(NEB):c.20467-18T>C
|
|
|
|
NM_001164508.2(NEB):c.20467-18T>G
|
|
|
|
NM_001164508.2(NEB):c.20467-18_20467-17insG
|
|
|
|
NM_001164508.2(NEB):c.20467-18_20467-17insTG
|
|
|
|
NM_001164508.2(NEB):c.20467-20_20467-19insG
|
|
|
|
NM_001164508.2(NEB):c.20467-2dup
|
rs765107380
|
|
|
NM_001164508.2(NEB):c.20467-3A>G
|
rs1463738651
|
|
|
NM_001164508.2(NEB):c.20467-4_20467-3insTA
|
rs1553708977
|
|
|
NM_001164508.2(NEB):c.20467-4dup
|
rs10687343
|
|
|
NM_001164508.2(NEB):c.20467-6T>G
|
|
|
|
NM_001164508.2(NEB):c.20467-9_20467-8insC
|
rs1208273105
|
|
|
NM_001164508.2(NEB):c.20469T>C (p.Ser6823=)
|
rs2153604226
|
|
|
NM_001164508.2(NEB):c.2048G>A (p.Gly683Asp)
|
|
|
|
NM_001164508.2(NEB):c.2049C>A (p.Gly683=)
|
rs372609682
|
|
|
NM_001164508.2(NEB):c.204G>A (p.Arg68=)
|
|
|
|
NM_001164508.2(NEB):c.20503C>A (p.Arg6835=)
|
rs370098540
|
|
|
NM_001164508.2(NEB):c.20529C>T (p.Asp6843=)
|
|
|
|
NM_001164508.2(NEB):c.20532T>A (p.Thr6844=)
|
|
|
|
NM_001164508.2(NEB):c.20533C>A (p.Pro6845Thr)
|
|
|
|
NM_001164508.2(NEB):c.20536G>T (p.Glu6846Ter)
|
|
|
|
NM_001164508.2(NEB):c.20538A>G (p.Glu6846=)
|
rs1576976368
|
|
|
NM_001164508.2(NEB):c.20550G>C (p.Val6850=)
|
rs1454797066
|
|
|
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter)
|
rs777819332
|
|
|
NM_001164508.2(NEB):c.20568T>C (p.His6856=)
|
rs780118739
|
|
|
NM_001164508.2(NEB):c.2056G>A (p.Glu686Lys)
|
|
|
|
NM_001164508.2(NEB):c.20571G>C (p.Leu6857=)
|
rs2153603779
|
|
|
NM_001164508.2(NEB):c.20577+7A>G
|
|
|
|
NM_001164508.2(NEB):c.20577+8C>G
|
rs762136090
|
|
|
NM_001164508.2(NEB):c.20578-13G>C
|
|
|
|
NM_001164508.2(NEB):c.20578-15T>C
|
|
|
|
NM_001164508.2(NEB):c.20578-18A>G
|
|
|
|
NM_001164508.2(NEB):c.20578-19T>C
|
|
|
|
NM_001164508.2(NEB):c.20578-20A>G
|
rs2153575431
|
|
|
NM_001164508.2(NEB):c.20578-2A>G
|
|
|
|
NM_001164508.2(NEB):c.20578-4C>G
|
rs1658782605
|
|
|
NM_001164508.2(NEB):c.20578-6G>A
|
rs376710012
|
|
|
NM_001164508.2(NEB):c.20578-8del
|
rs1304911332
|
|
|
NM_001164508.2(NEB):c.20583C>T (p.Val6861=)
|
rs939258740
|
|
|
NM_001164508.2(NEB):c.20591C>T (p.Ala6864Val)
|
|
|
|
NM_001164508.2(NEB):c.20592T>C (p.Ala6864=)
|
rs754233089
|
|
|
NM_001164508.2(NEB):c.20592T>G (p.Ala6864=)
|
|
|
|
NM_001164508.2(NEB):c.20606A>T (p.Gln6869Leu)
|
|
|
|
NM_001164508.2(NEB):c.2061C>T (p.Asp687=)
|
rs2149163767
|
|
|
NM_001164508.2(NEB):c.20626G>A (p.Val6876Ile)
|
|
|
|
NM_001164508.2(NEB):c.2062C>G (p.Pro688Ala)
|
rs750276279
|
|
|
NM_001164508.2(NEB):c.2062C>T (p.Pro688Ser)
|
rs750276279
|
|
|
NM_001164508.2(NEB):c.20633del (p.Asp6878fs)
|
rs2094062438
|
|
|
NM_001164508.2(NEB):c.20639C>A (p.Pro6880His)
|
|
|
|
NM_001164508.2(NEB):c.20644_20645dup (p.Leu6883fs)
|
rs2153574857
|
|
|
NM_001164508.2(NEB):c.20650A>G (p.Arg6884Gly)
|
|
|
|
NM_001164508.2(NEB):c.20652A>G (p.Arg6884=)
|
|
|
|
NM_001164508.2(NEB):c.20653G>T (p.Ala6885Ser)
|
rs1201503713
|
|
|
NM_001164508.2(NEB):c.20659C>A (p.Arg6887=)
|
rs749452641
|
|
|
NM_001164508.2(NEB):c.2065dup (p.Tyr689fs)
|
rs1576517390
|
|
|
NM_001164508.2(NEB):c.20660G>A (p.Arg6887Gln)
|
|
|
|
NM_001164508.2(NEB):c.20670G>C (p.Lys6890Asn)
|
rs768041857
|
|
|
NM_001164508.2(NEB):c.20674_20675del (p.Gln6892fs)
|
rs2153574675
|
|
|
NM_001164508.2(NEB):c.20682+12G>A
|
|
|
|
NM_001164508.2(NEB):c.20682+16C>T
|
|
|
|
NM_001164508.2(NEB):c.20682+1G>A
|
rs1576819152
|
|
|
NM_001164508.2(NEB):c.20682+8C>T
|
rs2153574573
|
|
|
NM_001164508.2(NEB):c.20682+9A>C
|
rs1576818801
|
|
|
NM_001164508.2(NEB):c.20683-10T>C
|
rs2153570157
|
|
|
NM_001164508.2(NEB):c.20683-12T>C
|
|
|
|
NM_001164508.2(NEB):c.20683-16T>G
|
|
|
|
NM_001164508.2(NEB):c.20683-17T>G
|
|
|
|
NM_001164508.2(NEB):c.20683-18C>T
|
|
|
|
NM_001164508.2(NEB):c.20683-4T>C
|
rs2153570062
|
|
|
NM_001164508.2(NEB):c.20683-6A>G
|
|
|
|
NM_001164508.2(NEB):c.20683-6A>T
|
|
|
|
NM_001164508.2(NEB):c.20683-9ATT[3]
|
rs2093936618
|
|
|
NM_001164508.2(NEB):c.20688G>C (p.Leu6896=)
|
rs775161722
|
|
|
NM_001164508.2(NEB):c.20692G>A (p.Val6898Ile)
|
|
|
|
NM_001164508.2(NEB):c.20697A>G (p.Glu6899=)
|
rs2153570012
|
|
|
NM_001164508.2(NEB):c.206G>A (p.Arg69Lys)
|
|
|
|
NM_001164508.2(NEB):c.2070C>T (p.His690=)
|
|
|
|
NM_001164508.2(NEB):c.20718C>A (p.Pro6906=)
|
rs1576796071
|
|
|
NM_001164508.2(NEB):c.20718C>T (p.Pro6906=)
|
|
|
|
NM_001164508.2(NEB):c.20719C>T (p.His6907Tyr)
|
|
|
|
NM_001164508.2(NEB):c.20721T>A (p.His6907Gln)
|
rs2093933909
|
|
|
NM_001164508.2(NEB):c.20725C>T (p.His6909Tyr)
|
|
|
|
NM_001164508.2(NEB):c.20728G>T (p.Ala6910Ser)
|
|
|
|
NM_001164508.2(NEB):c.2073A>G (p.Thr691=)
|
|
|
|
NM_001164508.2(NEB):c.20742C>A (p.Thr6914=)
|
|
|
|
NM_001164508.2(NEB):c.20742C>G (p.Thr6914=)
|
|
|
|
NM_001164508.2(NEB):c.20752A>C (p.Lys6918Gln)
|
|
|
|
NM_001164508.2(NEB):c.20754G>A (p.Lys6918=)
|
rs2153569748
|
|
|
NM_001164508.2(NEB):c.20755C>T (p.His6919Tyr)
|
rs2093931355
|
|
|
NM_001164508.2(NEB):c.20757T>C (p.His6919=)
|
rs2153569714
|
|
|
NM_001164508.2(NEB):c.2075_2076del (p.His692fs)
|
rs2149163148
|
|
|
NM_001164508.2(NEB):c.20763A>G (p.Lys6921=)
|
rs2093930988
|
|
|
NM_001164508.2(NEB):c.20765A>T (p.Asp6922Val)
|
rs2093930817
|
|
|
NM_001164508.2(NEB):c.20769G>A (p.Val6923=)
|
rs938023399
|
|
|
NM_001164508.2(NEB):c.20769G>C (p.Val6923=)
|
|
|
|
NM_001164508.2(NEB):c.2076C>T (p.His692=)
|
|
|
|
NM_001164508.2(NEB):c.20776A>G (p.Met6926Val)
|
rs1559707924
|
|
|
NM_001164508.2(NEB):c.20787+10G>A
|
|
|
|
NM_001164508.2(NEB):c.20787+17G>C
|
|
|
|
NM_001164508.2(NEB):c.20787+20C>A
|
|
|
|
NM_001164508.2(NEB):c.20788-17C>A
|
|
|
|
NM_001164508.2(NEB):c.20788-20C>T
|
|
|
|
NM_001164508.2(NEB):c.20788-5C>T
|
|
|
|
NM_001164508.2(NEB):c.20791A>T (p.Lys6931Ter)
|
|
|
|
NM_001164508.2(NEB):c.20792dup (p.Tyr6932fs)
|
|
|
|
NM_001164508.2(NEB):c.20793G>A (p.Lys6931=)
|
|
|
|
NM_001164508.2(NEB):c.20802T>C (p.Ile6934=)
|
|
|
|
NM_001164508.2(NEB):c.20805A>G (p.Gln6935=)
|
|
|
|
NM_001164508.2(NEB):c.20808T>C (p.Tyr6936=)
|
rs753417634
|
|
|
NM_001164508.2(NEB):c.2080A>C (p.Met694Leu)
|
|
|
|
NM_001164508.2(NEB):c.2080A>G (p.Met694Val)
|
|
|
|
NM_001164508.2(NEB):c.20811A>G (p.Glu6937=)
|
|
|
|
NM_001164508.2(NEB):c.20822A>G (p.Asp6941Gly)
|
|
|
|
NM_001164508.2(NEB):c.20827T>C (p.Tyr6943His)
|
|
|
|
NM_001164508.2(NEB):c.20832T>C (p.Thr6944=)
|
|
|
|
NM_001164508.2(NEB):c.20845dup (p.Thr6949fs)
|
rs1553695209
|
|
|
NM_001164508.2(NEB):c.20847G>C (p.Thr6949=)
|
rs759425229
|
|
|
NM_001164508.2(NEB):c.20851A>G (p.Ile6951Val)
|
rs1168345348
|
|
|
NM_001164508.2(NEB):c.20856C>T (p.Leu6952=)
|
rs2153567193
|
|
|
NM_001164508.2(NEB):c.20861G>A (p.Arg6954Lys)
|
|
|
|
NM_001164508.2(NEB):c.20863G>A (p.Ala6955Thr)
|
rs2153567154
|
|
|
NM_001164508.2(NEB):c.2087T>C (p.Val696Ala)
|
|
|
|
NM_001164508.2(NEB):c.2088T>G (p.Val696=)
|
|
|
|
NM_001164508.2(NEB):c.20892+10C>A
|
rs2153566996
|
|
|
NM_001164508.2(NEB):c.20892+10C>T
|
rs2153566996
|
|
|
NM_001164508.2(NEB):c.20892+11C>T
|
|
|
|
NM_001164508.2(NEB):c.20892+12T>C
|
|
|
|
NM_001164508.2(NEB):c.20892+14C>T
|
|
|
|
NM_001164508.2(NEB):c.20892T>A (p.Asp6964Glu)
|
rs1553694845
|
|
|
NM_001164508.2(NEB):c.20892T>G (p.Asp6964Glu)
|
rs1553694845
|
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NM_001164508.2(NEB):c.20893-10C>G
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|
NM_001164508.2(NEB):c.20893-11dup
|
rs766816927
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NM_001164508.2(NEB):c.20893-17G>T
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|
NM_001164508.2(NEB):c.20893-19G>A
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NM_001164508.2(NEB):c.20893-20T>C
|
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NM_001164508.2(NEB):c.20893-8_20893-7del
|
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|
NM_001164508.2(NEB):c.20894T>A (p.Leu6965Gln)
|
rs1239615497
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|
NM_001164508.2(NEB):c.20900A>G (p.Tyr6967Cys)
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|
NM_001164508.2(NEB):c.20901C>T (p.Tyr6967=)
|
rs1311480674
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NM_001164508.2(NEB):c.20906A>T (p.Glu6969Val)
|
rs371680259
|
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|
NM_001164508.2(NEB):c.20916A>G (p.Gln6972=)
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|
NM_001164508.2(NEB):c.20918del (p.Lys6973fs)
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|
NM_001164508.2(NEB):c.20928G>T (p.Gly6976=)
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|
NM_001164508.2(NEB):c.20931A>G (p.Lys6977=)
|
rs2153554037
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NM_001164508.2(NEB):c.20933A>G (p.Tyr6978Cys)
|
rs761780939
|
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|
NM_001164508.2(NEB):c.20934C>A (p.Tyr6978Ter)
|
rs2153554020
|
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|
NM_001164508.2(NEB):c.20940G>C (p.Thr6980=)
|
rs369611234
|
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|
NM_001164508.2(NEB):c.20961T>C (p.Ile6987=)
|
rs1553689592
|
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|
NM_001164508.2(NEB):c.20964C>T (p.Val6988=)
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NM_001164508.2(NEB):c.20966A>G (p.Tyr6989Cys)
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|
NM_001164508.2(NEB):c.20968C>T (p.His6990Tyr)
|
rs1383294380
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NM_001164508.2(NEB):c.20973C>T (p.Arg6991=)
|
rs2153553754
|
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|
NM_001164508.2(NEB):c.20974A>G (p.Lys6992Glu)
|
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|
NM_001164508.2(NEB):c.20974A>T (p.Lys6992Ter)
|
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|
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs)
|
rs1559680233
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|
NM_001164508.2(NEB):c.20985T>C (p.Asp6995=)
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|
NM_001164508.2(NEB):c.2098A>G (p.Asn700Asp)
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|
NM_001164508.2(NEB):c.20992dup (p.Ser6998fs)
|
rs2153553633
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NM_001164508.2(NEB):c.20995A>T (p.Lys6999Ter)
|
rs2153553617
|
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|
NM_001164508.2(NEB):c.20997+13A>G
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|
NM_001164508.2(NEB):c.20997+15A>G
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NM_001164508.2(NEB):c.20997+17T>C
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|
NM_001164508.2(NEB):c.20997+18T>C
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|
NM_001164508.2(NEB):c.20997+7C>A
|
rs1447554922
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NM_001164508.2(NEB):c.20998-13dup
|
rs1269728736
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NM_001164508.2(NEB):c.20998-16del
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NM_001164508.2(NEB):c.20998-19T>C
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|
NM_001164508.2(NEB):c.20998-7A>G
|
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|
NM_001164508.2(NEB):c.21006C>T (p.Tyr7002=)
|
rs2153551206
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|
NM_001164508.2(NEB):c.21021G>A (p.Met7007Ile)
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|
NM_001164508.2(NEB):c.21024C>T (p.Ser7008=)
|
rs2153551145
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|
NM_001164508.2(NEB):c.21028T>C (p.Leu7010=)
|
rs750374820
|
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|
NM_001164508.2(NEB):c.2102G>A (p.Ser701Asn)
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|
NM_001164508.2(NEB):c.21033T>C (p.Gly7011=)
|
rs2153551062
|
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|
NM_001164508.2(NEB):c.21037T>G (p.Trp7013Gly)
|
rs2153551039
|
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NM_001164508.2(NEB):c.21046A>T (p.Ile7016Phe)
|
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NM_001164508.2(NEB):c.21051T>G (p.Pro7017=)
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NM_001164508.2(NEB):c.21052del (p.Asp7018fs)
|
rs1576695735
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NM_001164508.2(NEB):c.21055C>T (p.Arg7019Cys)
|
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|
NM_001164508.2(NEB):c.21057T>C (p.Arg7019=)
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|
NM_001164508.2(NEB):c.21058C>A (p.Pro7020Thr)
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|
NM_001164508.2(NEB):c.2106+11del
|
rs1064794944
|
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NM_001164508.2(NEB):c.2106+14C>A
|
rs2149161572
|
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|
NM_001164508.2(NEB):c.21060A>G (p.Pro7020=)
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|
NM_001164508.2(NEB):c.21060A>T (p.Pro7020=)
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|
NM_001164508.2(NEB):c.21066T>C (p.His7022=)
|
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|
NM_001164508.2(NEB):c.2107-13T>G
|
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|
NM_001164508.2(NEB):c.2107-16G>T
|
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|
NM_001164508.2(NEB):c.2107-4A>T
|
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|
NM_001164508.2(NEB):c.2107-5_2107-3del
|
rs1365598003
|
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|
NM_001164508.2(NEB):c.21070del (p.His7024fs)
|
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|
|
NM_001164508.2(NEB):c.21072C>T (p.His7024=)
|
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|
NM_001164508.2(NEB):c.2107A>G (p.Lys703Glu)
|
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|
|
NM_001164508.2(NEB):c.21090C>A (p.Asp7030Glu)
|
|
|
|
NM_001164508.2(NEB):c.21092_21093del (p.Thr7031fs)
|
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|
|
NM_001164508.2(NEB):c.21094G>C (p.Val7032Leu)
|
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|
NM_001164508.2(NEB):c.21097A>C (p.Ser7033Arg)
|
|
|
|
NM_001164508.2(NEB):c.2109A>G (p.Lys703=)
|
rs2099554454
|
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|
NM_001164508.2(NEB):c.210G>A (p.Lys70=)
|
rs2150921066
|
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|
NM_001164508.2(NEB):c.21102+12C>T
|
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|
NM_001164508.2(NEB):c.21102+13del
|
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|
NM_001164508.2(NEB):c.21102+17_21102+19del
|
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|
NM_001164508.2(NEB):c.21102+17del
|
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NM_001164508.2(NEB):c.21102+18C>T
|
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|
NM_001164508.2(NEB):c.21102+2_21102+3del
|
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|
NM_001164508.2(NEB):c.21102+5G>A
|
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|
NM_001164508.2(NEB):c.21102+7G>C
|
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|
NM_001164508.2(NEB):c.21102+8T>C
|
rs2153550373
|
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|
NM_001164508.2(NEB):c.21102T>C (p.Asp7034=)
|
rs531711771
|
|
|
NM_001164508.2(NEB):c.21103-10C>A
|
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|
NM_001164508.2(NEB):c.21103-14TCT[2]
|
rs747602368
|
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|
NM_001164508.2(NEB):c.21103-17T>C
|
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|
NM_001164508.2(NEB):c.21103-1G>C
|
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|
NM_001164508.2(NEB):c.21103-20T>C
|
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|
NM_001164508.2(NEB):c.21108del (p.Lys7036fs)
|
|
|
|
NM_001164508.2(NEB):c.21111T>A (p.Tyr7037Ter)
|
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|
|
NM_001164508.2(NEB):c.21115G>C (p.Glu7039Gln)
|
|
|
|
NM_001164508.2(NEB):c.2111G>A (p.Ser704Asn)
|
|
|
|
NM_001164508.2(NEB):c.21120C>T (p.Asp7040=)
|
rs2153545616
|
|
|
NM_001164508.2(NEB):c.21124_21128del (p.Thr7042fs)
|
|
|
|
NM_001164508.2(NEB):c.21147C>T (p.Cys7049=)
|
rs1239511851
|
|
|
NM_001164508.2(NEB):c.21162C>A (p.Thr7054=)
|
rs766718173
|
|
|
NM_001164508.2(NEB):c.21167A>G (p.Asp7056Gly)
|
|
|
|
NM_001164508.2(NEB):c.21175C>T (p.Leu7059=)
|
|
|
|
NM_001164508.2(NEB):c.21189C>T (p.Asn7063=)
|
|
|
|
NM_001164508.2(NEB):c.2118A>G (p.Lys706=)
|
|
|
|
NM_001164508.2(NEB):c.21194C>T (p.Thr7065Ile)
|
|
|
|
NM_001164508.2(NEB):c.21197T>C (p.Leu7066Pro)
|
|
|
|
NM_001164508.2(NEB):c.21198C>G (p.Leu7066=)
|
rs776018438
|
|
|
NM_001164508.2(NEB):c.21198_21199del (p.Tyr7067fs)
|
rs2093334853
|
|
|
NM_001164508.2(NEB):c.21204C>T (p.Ser7068=)
|
|
|
|
NM_001164508.2(NEB):c.21207+10C>T
|
rs2153544833
|
|
|
NM_001164508.2(NEB):c.21207+12C>T
|
|
|
|
NM_001164508.2(NEB):c.21207+15G>A
|
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|
NM_001164508.2(NEB):c.21207+4T>C
|
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NM_001164508.2(NEB):c.21207+6T>C
|
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|
NM_001164508.2(NEB):c.21207+7_21207+8insCAGCAATTC
|
|
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|
NM_001164508.2(NEB):c.21207+8T>C
|
rs1553686509
|
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|
NM_001164508.2(NEB):c.21207+9A>G
|
rs553190163
|
|
|
NM_001164508.2(NEB):c.21208-10T>G
|
|
|
|
NM_001164508.2(NEB):c.21208-16G>A
|
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|
NM_001164508.2(NEB):c.21208-18A>G
|
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|
|
NM_001164508.2(NEB):c.21208-19C>T
|
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|
|
NM_001164508.2(NEB):c.21208-20C>G
|
|
|
|
NM_001164508.2(NEB):c.21208-5del
|
rs888362153
|
|
|
NM_001164508.2(NEB):c.21208-5dup
|
rs888362153
|
|
|
NM_001164508.2(NEB):c.21208-7T>C
|
|
|
|
NM_001164508.2(NEB):c.21212A>C (p.Lys7071Thr)
|
|
|
|
NM_001164508.2(NEB):c.21212A>G (p.Lys7071Arg)
|
rs2093050726
|
|
|
NM_001164508.2(NEB):c.21220G>T (p.Glu7074Ter)
|
|
|
|
NM_001164508.2(NEB):c.2122G>A (p.Glu708Lys)
|
rs1553587676
|
|
|
NM_001164508.2(NEB):c.21230_21231insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAGTATTTGA (p.Glu7077_Arg7078insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_001164508.2(NEB):c.21234G>A (p.Arg7078=)
|
|
|
|
NM_001164508.2(NEB):c.21245A>G (p.Asp7082Gly)
|
|
|
|
NM_001164508.2(NEB):c.21246T>G (p.Asp7082Glu)
|
rs2153534764
|
|
|
NM_001164508.2(NEB):c.21252G>A (p.Lys7084=)
|
|
|
|
NM_001164508.2(NEB):c.21255T>C (p.Tyr7085=)
|
|
|
|
NM_001164508.2(NEB):c.21262G>A (p.Asp7088Asn)
|
|
|
|
NM_001164508.2(NEB):c.21264C>T (p.Asp7088=)
|
rs1274750988
|
|
|
NM_001164508.2(NEB):c.21267T>C (p.Ser7089=)
|
|
|
|
NM_001164508.2(NEB):c.21270G>A (p.Pro7090=)
|
rs368887173
|
|
|
NM_001164508.2(NEB):c.21279G>A (p.Arg7093=)
|
|
|
|
NM_001164508.2(NEB):c.21287A>G (p.Lys7096Arg)
|
|
|
|
NM_001164508.2(NEB):c.2128G>A (p.Glu710Lys)
|
|
|
|
NM_001164508.2(NEB):c.21291T>C (p.Tyr7097=)
|
|
|
|
NM_001164508.2(NEB):c.21296C>G (p.Thr7099Ser)
|
|
|
|
NM_001164508.2(NEB):c.21299_21302del (p.Gln7100fs)
|
|
|
|
NM_001164508.2(NEB):c.21300A>G (p.Gln7100=)
|
rs1050612430
|
|
|
NM_001164508.2(NEB):c.21309T>C (p.Asn7103=)
|
|
|
|
NM_001164508.2(NEB):c.2130A>G (p.Glu710=)
|
rs2149154304
|
|
|
NM_001164508.2(NEB):c.21312+16C>T
|
|
|
|
NM_001164508.2(NEB):c.21312+7A>G
|
rs2153534308
|
|
|
NM_001164508.2(NEB):c.21313-10G>A
|
rs1423055409
|
|
|
NM_001164508.2(NEB):c.21313-19C>T
|
|
|
|
NM_001164508.2(NEB):c.21313-1G>C
|
rs2153515796
|
|
|
NM_001164508.2(NEB):c.21313-5G>C
|
rs2153515816
|
|
|
NM_001164508.2(NEB):c.21313-649C>A
|
|
|
|
NM_001164508.2(NEB):c.21313-649C>T
|
|
|
|
NM_001164508.2(NEB):c.21313-651G>A
|
|
|
|
NM_001164508.2(NEB):c.21313-656G>A
|
|
|
|
NM_001164508.2(NEB):c.21313-658G>A
|
|
|
|
NM_001164508.2(NEB):c.21313-659T>C
|
|
|
|
NM_001164508.2(NEB):c.21313-777G>A
|
rs2153522125
|
|
|
NM_001164508.2(NEB):c.21313-777G>C
|
|
|
|
NM_001164508.2(NEB):c.21313-783G>A
|
|
|
|
NM_001164508.2(NEB):c.21313-792T>C
|
|
|
|
NM_001164508.2(NEB):c.21313-793A>T
|
|
|
|
NM_001164508.2(NEB):c.21313-9C>T
|
rs1576549807
|
|
|
NM_001164508.2(NEB):c.21317A>G (p.Lys7106Arg)
|
|
|
|
NM_001164508.2(NEB):c.21318del (p.Lys7106fs)
|
rs2092318339
|
|
|
NM_001164508.2(NEB):c.21320A>G (p.Tyr7107Cys)
|
|
|
|
NM_001164508.2(NEB):c.21323A>T (p.Lys7108Ile)
|
|
|
|
NM_001164508.2(NEB):c.21329G>A (p.Ser7110Asn)
|
|
|
|
NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly)
|
rs1279646895
|
|
|
NM_001164508.2(NEB):c.2133A>G (p.Glu711=)
|
|
|
|
NM_001164508.2(NEB):c.21344T>C (p.Leu7115Pro)
|
rs1003798007
|
|
|
NM_001164508.2(NEB):c.21348A>T (p.Gln7116His)
|
|
|
|
NM_001164508.2(NEB):c.21349C>A (p.His7117Asn)
|
|
|
|
NM_001164508.2(NEB):c.21351T>C (p.His7117=)
|
rs2092309757
|
|
|
NM_001164508.2(NEB):c.21352G>C (p.Gly7118Arg)
|
|
|
|
NM_001164508.2(NEB):c.21356G>A (p.Cys7119Tyr)
|
|
|
|
NM_001164508.2(NEB):c.21358A>C (p.Asn7120His)
|
|
|
|
NM_001164508.2(NEB):c.2136T>C (p.Asp712=)
|
|
|
|
NM_001164508.2(NEB):c.2136T>G (p.Asp712Glu)
|
rs1359338282
|
|
|
NM_001164508.2(NEB):c.21392T>C (p.Leu7131Pro)
|
rs2092301005
|
|
|
NM_001164508.2(NEB):c.21403C>T (p.His7135Tyr)
|
|
|
|
NM_001164508.2(NEB):c.21405dup (p.Met7136fs)
|
rs2153515167
|
|
|
NM_001164508.2(NEB):c.21411G>C (p.Trp7137Cys)
|
rs1343837039
|
|
|
NM_001164508.2(NEB):c.21417+14G>C
|
|
|
|
NM_001164508.2(NEB):c.21417+17T>A
|
|
|
|
NM_001164508.2(NEB):c.21417+18del
|
|
|
|
NM_001164508.2(NEB):c.21417+3A>T
|
|
|
|
NM_001164508.2(NEB):c.21417+8C>T
|
|
|
|
NM_001164508.2(NEB):c.21418-10C>T
|
rs201634621
|
|
|
NM_001164508.2(NEB):c.21418-15T>C
|
|
|
|
NM_001164508.2(NEB):c.21418-1G>A
|
rs2153501801
|
|
|
NM_001164508.2(NEB):c.21418-6del
|
rs56026241
|
|
|
NM_001164508.2(NEB):c.21418-8C>T
|
|
|
|
NM_001164508.2(NEB):c.21418-9A>G
|
rs1553669362
|
|
|
NM_001164508.2(NEB):c.2141G>A (p.Gly714Glu)
|
|
|
|
NM_001164508.2(NEB):c.21420C>G (p.Ile7140Met)
|
|
|
|
NM_001164508.2(NEB):c.21424T>C (p.Tyr7142His)
|
|
|
|
NM_001164508.2(NEB):c.21426C>A (p.Tyr7142Ter)
|
rs2091275452
|
|
|
NM_001164508.2(NEB):c.21426C>T (p.Tyr7142=)
|
rs2091275452
|
|
|
NM_001164508.2(NEB):c.21431A>G (p.Lys7144Arg)
|
|
|
|
NM_001164508.2(NEB):c.21435C>A (p.Asn7145Lys)
|
|
|
|
NM_001164508.2(NEB):c.21439G>A (p.Glu7147Lys)
|
|
|
|
NM_001164508.2(NEB):c.21444A>G (p.Lys7148=)
|
|
|
|
NM_001164508.2(NEB):c.21447A>C (p.Ser7149=)
|
rs2153501636
|
|
|
NM_001164508.2(NEB):c.21454A>G (p.Lys7152Glu)
|
rs2153501624
|
|
|
NM_001164508.2(NEB):c.21457T>G (p.Phe7153Val)
|
rs2153501601
|
|
|
NM_001164508.2(NEB):c.2145A>G (p.Lys715=)
|
|
|
|
NM_001164508.2(NEB):c.21462C>T (p.Thr7154=)
|
|
|
|
NM_001164508.2(NEB):c.21465A>G (p.Ser7155=)
|
rs2153501542
|
|
|
NM_001164508.2(NEB):c.21469G>T (p.Val7157Leu)
|
rs1576490497
|
|
|
NM_001164508.2(NEB):c.21484C>T (p.His7162Tyr)
|
|
|
|
NM_001164508.2(NEB):c.21490C>A (p.Arg7164Ser)
|
rs771050596
|
|
|
NM_001164508.2(NEB):c.21490C>T (p.Arg7164Cys)
|
|
|
|
NM_001164508.2(NEB):c.21491G>C (p.Arg7164Pro)
|
rs16830171
|
|
|
NM_001164508.2(NEB):c.21492T>A (p.Arg7164=)
|
rs2153501339
|
|
|
NM_001164508.2(NEB):c.21492T>C (p.Arg7164=)
|
|
|
|
NM_001164508.2(NEB):c.214A>G (p.Ile72Val)
|
rs1553698165
|
|
|
NM_001164508.2(NEB):c.21500_21501del (p.Lys7167fs)
|
|
|
|
NM_001164508.2(NEB):c.21504C>A (p.Val7168=)
|
|
|
|
NM_001164508.2(NEB):c.2150A>G (p.Tyr717Cys)
|
|
|
|
NM_001164508.2(NEB):c.21510A>G (p.Lys7170=)
|
rs1216670824
|
|
|
NM_001164508.2(NEB):c.21516C>A (p.Ile7172=)
|
rs1576489349
|
|
|
NM_001164508.2(NEB):c.21516C>T (p.Ile7172=)
|
rs1576489349
|
|
|
NM_001164508.2(NEB):c.21519C>A (p.Ser7173Arg)
|
|
|
|
NM_001164508.2(NEB):c.21520G>A (p.Asp7174Asn)
|
rs1227689355
|
|
|
NM_001164508.2(NEB):c.21522+16A>G
|
|
|
|
NM_001164508.2(NEB):c.21522+7G>C
|
|
|
|
NM_001164508.2(NEB):c.21523-11dup
|
|
|
|
NM_001164508.2(NEB):c.21523-12T>C
|
|
|
|
NM_001164508.2(NEB):c.21523-17G>A
|
|
|
|
NM_001164508.2(NEB):c.21523-17G>T
|
|
|
|
NM_001164508.2(NEB):c.21523-19C>G
|
|
|
|
NM_001164508.2(NEB):c.21523-1G>T
|
|
|
|
NM_001164508.2(NEB):c.21523-6T>C
|
rs2153489992
|
|
|
NM_001164508.2(NEB):c.21523-9A>G
|
|
|
|
NM_001164508.2(NEB):c.21525C>A (p.Ile7175=)
|
rs369183371
|
|
|
NM_001164508.2(NEB):c.21529T>C (p.Tyr7177His)
|
|
|
|
NM_001164508.2(NEB):c.21531T>C (p.Tyr7177=)
|
rs2090456365
|
|
|
NM_001164508.2(NEB):c.21534A>G (p.Lys7178=)
|
|
|
|
NM_001164508.2(NEB):c.21541T>C (p.Tyr7181His)
|
|
|
|
NM_001164508.2(NEB):c.21546C>A (p.Asn7182Lys)
|
rs149510427
|
|
|
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=)
|
rs149510427
|
|
|
NM_001164508.2(NEB):c.21558C>T (p.Pro7186=)
|
|
|
|
NM_001164508.2(NEB):c.2155C>A (p.Pro719Thr)
|
rs376503299
|
|
|
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser)
|
rs376503299
|
|
|
NM_001164508.2(NEB):c.21560G>C (p.Arg7187Thr)
|
|
|
|
NM_001164508.2(NEB):c.21563G>A (p.Gly7188Asp)
|
|
|
|
NM_001164508.2(NEB):c.21563G>T (p.Gly7188Val)
|
|
|
|
NM_001164508.2(NEB):c.21570C>G (p.Thr7190=)
|
rs2153489667
|
|
|
NM_001164508.2(NEB):c.21572C>G (p.Thr7191Arg)
|
|
|
|
NM_001164508.2(NEB):c.21580G>A (p.Asp7194Asn)
|
|
|
|
NM_001164508.2(NEB):c.21582C>T (p.Asp7194=)
|
rs527760406
|
|
|
NM_001164508.2(NEB):c.21584_21585inv (p.Thr7195Met)
|
|
|
|
NM_001164508.2(NEB):c.21588C>T (p.Pro7196=)
|
rs2090436424
|
|
|
NM_001164508.2(NEB):c.21597G>A (p.Leu7199=)
|
|
|
|
NM_001164508.2(NEB):c.21599A>G (p.His7200Arg)
|
|
|
|
NM_001164508.2(NEB):c.21600T>C (p.His7200=)
|
rs2090434299
|
|
|
NM_001164508.2(NEB):c.21605G>A (p.Arg7202His)
|
|
|
|
NM_001164508.2(NEB):c.21606C>T (p.Arg7202=)
|
rs2153489433
|
|
|
NM_001164508.2(NEB):c.21609G>A (p.Lys7203=)
|
|
|
|
NM_001164508.2(NEB):c.21609G>C (p.Lys7203Asn)
|
rs2090430591
|
|
|
NM_001164508.2(NEB):c.2160G>A (p.Gln720=)
|
|
|
|
NM_001164508.2(NEB):c.21628_21630+2del
|
rs2153489310
|
|
|
NM_001164508.2(NEB):c.21630+10A>G
|
rs2153489207
|
|
|
NM_001164508.2(NEB):c.21630+7A>G
|
rs1576455408
|
|
|
NM_001164508.2(NEB):c.21631-14G>A
|
|
|
|
NM_001164508.2(NEB):c.21631-14_21631-13del
|
rs778841804
|
|
|
NM_001164508.2(NEB):c.21631-16_21631-15insA
|
|
|
|
NM_001164508.2(NEB):c.21631-17del
|
|
|
|
NM_001164508.2(NEB):c.21631-7C>G
|
|
|
|
NM_001164508.2(NEB):c.21631-7C>T
|
rs374513817
|
|
|
NM_001164508.2(NEB):c.2163A>G (p.Thr721=)
|
|
|
|
NM_001164508.2(NEB):c.21641AAG[1] (p.Glu7215del)
|
|
|
|
NM_001164508.2(NEB):c.21646G>A (p.Val7216Ile)
|
rs2153475893
|
|
|
NM_001164508.2(NEB):c.21649T>C (p.Tyr7217His)
|
|
|
|
NM_001164508.2(NEB):c.2164A>G (p.Ile722Val)
|
|
|
|
NM_001164508.2(NEB):c.21666C>G (p.Ser7222=)
|
|
|
|
NM_001164508.2(NEB):c.21668A>C (p.Asn7223Thr)
|
|
|
|
NM_001164508.2(NEB):c.21675C>G (p.Thr7225=)
|
|
|
|
NM_001164508.2(NEB):c.21677T>C (p.Ile7226Thr)
|
|
|
|
NM_001164508.2(NEB):c.2169A>C (p.Thr723=)
|
|
|
|
NM_001164508.2(NEB):c.21702A>G (p.Lys7234=)
|
|
|
|
NM_001164508.2(NEB):c.21708C>T (p.Ala7236=)
|
|
|
|
NM_001164508.2(NEB):c.21711_21712dup (p.Asp7238fs)
|
rs1559580467
|
|
|
NM_001164508.2(NEB):c.21712G>A (p.Asp7238Asn)
|
|
|
|
NM_001164508.2(NEB):c.21717C>A (p.Ala7239=)
|
|
|
|
NM_001164508.2(NEB):c.2172A>G (p.Gln724=)
|
rs2149152300
|
|
|
NM_001164508.2(NEB):c.21732C>G (p.Thr7244=)
|
|
|
|
NM_001164508.2(NEB):c.21732C>T (p.Thr7244=)
|
|
|
|
NM_001164508.2(NEB):c.21735+1G>C
|
rs2153475495
|
|
|
NM_001164508.2(NEB):c.21735+7_21735+10dup
|
|
|
|
NM_001164508.2(NEB):c.21736-12T>G
|
|
|
|
NM_001164508.2(NEB):c.21736-19TC[2]
|
rs752810060
|
|
|
NM_001164508.2(NEB):c.21736-19TC[4]
|
|
|
|
NM_001164508.2(NEB):c.21736-1G>T
|
|
|
|
NM_001164508.2(NEB):c.21736-2A>G
|
rs1389892619
|
|
|
NM_001164508.2(NEB):c.21736-7A>T
|
rs1576338070
|
|
|
NM_001164508.2(NEB):c.21736-9T>A
|
|
|
|
NM_001164508.2(NEB):c.21739G>C (p.Asp7247His)
|
|
|
|
NM_001164508.2(NEB):c.21741C>T (p.Asp7247=)
|
rs1462775059
|
|
|
NM_001164508.2(NEB):c.21743A>G (p.Tyr7248Cys)
|
rs2153463102
|
|
|
NM_001164508.2(NEB):c.21744T>C (p.Tyr7248=)
|
|
|
|
NM_001164508.2(NEB):c.21751C>T (p.Gln7251Ter)
|
rs373946758
|
|
|
NM_001164508.2(NEB):c.21773A>G (p.His7258Arg)
|
|
|
|
NM_001164508.2(NEB):c.21780G>A (p.Lys7260=)
|
|
|
|
NM_001164508.2(NEB):c.21789T>C (p.Pro7263=)
|
|
|
|
NM_001164508.2(NEB):c.21792C>A (p.Asp7264Glu)
|
|
|
|
NM_001164508.2(NEB):c.21792C>T (p.Asp7264=)
|
rs758971689
|
|
|
NM_001164508.2(NEB):c.21793del (p.Arg7265fs)
|
|
|
|
NM_001164508.2(NEB):c.21794G>A (p.Arg7265Gln)
|
|
|
|
NM_001164508.2(NEB):c.21795A>T (p.Arg7265=)
|
rs2153462890
|
|
|
NM_001164508.2(NEB):c.21798G>A (p.Pro7266=)
|
rs375581714
|
|
|
NM_001164508.2(NEB):c.21801C>T (p.Asp7267=)
|
|
|
|
NM_001164508.2(NEB):c.21816C>T (p.Ala7272=)
|
|
|
|
NM_001164508.2(NEB):c.2181A>G (p.Glu727=)
|
rs2149152140
|
|
|
NM_001164508.2(NEB):c.21824C>G (p.Ser7275Cys)
|
|
|
|
NM_001164508.2(NEB):c.21826C>A (p.Leu7276Met)
|
|
|
|
NM_001164508.2(NEB):c.2182G>A (p.Ala728Thr)
|
rs1187124982
|
|
|
NM_001164508.2(NEB):c.21831G>A (p.Gln7277=)
|
|
|
|
NM_001164508.2(NEB):c.2183C>T (p.Ala728Val)
|
|
|
|
NM_001164508.2(NEB):c.21840+10G>T
|
rs1198385109
|
|
|
NM_001164508.2(NEB):c.21840+14G>C
|
|
|
|
NM_001164508.2(NEB):c.21840+16C>T
|
rs768934807
|
|
|
NM_001164508.2(NEB):c.21840+17A>G
|
|
|
|
NM_001164508.2(NEB):c.21840+7C>T
|
|
|
|
NM_001164508.2(NEB):c.21841-10T>G
|
|
|
|
NM_001164508.2(NEB):c.21841-15T>C
|
|
|
|
NM_001164508.2(NEB):c.21841-16C>T
|
|
|
|
NM_001164508.2(NEB):c.21841-20C>T
|
rs1280656368
|
|
|
NM_001164508.2(NEB):c.21841-5C>A
|
rs1447082461
|
|
|
NM_001164508.2(NEB):c.21841-5C>T
|
rs1447082461
|
|
|
NM_001164508.2(NEB):c.21841-7A>G
|
rs1576315905
|
|
|
NM_001164508.2(NEB):c.21843T>C (p.Phe7281=)
|
rs2086545410
|
|
|
NM_001164508.2(NEB):c.21852G>A (p.Lys7284=)
|
rs2153458955
|
|
|
NM_001164508.2(NEB):c.21855G>A (p.Leu7285=)
|
|
|
|
NM_001164508.2(NEB):c.21859C>G (p.Arg7287Gly)
|
rs376072545
|
|
|
NM_001164508.2(NEB):c.21859C>T (p.Arg7287Trp)
|
|
|
|
NM_001164508.2(NEB):c.21860G>A (p.Arg7287Gln)
|
|
|
|
NM_001164508.2(NEB):c.21862G>A (p.Glu7288Lys)
|
rs768693028
|
|
|
NM_001164508.2(NEB):c.21868C>T (p.Leu7290Phe)
|
|
|
|
NM_001164508.2(NEB):c.21870C>A (p.Leu7290=)
|
|
|
|
NM_001164508.2(NEB):c.21873G>A (p.Lys7291=)
|
rs2153458824
|
|
|
NM_001164508.2(NEB):c.21874G>C (p.Gly7292Arg)
|
|
|
|
NM_001164508.2(NEB):c.21879C>T (p.Cys7293=)
|
|
|
|
NM_001164508.2(NEB):c.21885_21888del (p.Val7297fs)
|
|
|
|
NM_001164508.2(NEB):c.21887_21888del (p.Ser7296fs)
|
|
|
|
NM_001164508.2(NEB):c.21891C>A (p.Val7297=)
|
rs2153458732
|
|
|
NM_001164508.2(NEB):c.21908C>G (p.Thr7303Arg)
|
rs374819736
|
|
|
NM_001164508.2(NEB):c.21908C>T (p.Thr7303Met)
|
|
|
|
NM_001164508.2(NEB):c.21909G>C (p.Thr7303=)
|
|
|
|
NM_001164508.2(NEB):c.21910G>A (p.Val7304Met)
|
|
|
|
NM_001164508.2(NEB):c.21919C>A (p.Leu7307Ile)
|
|
|
|
NM_001164508.2(NEB):c.21921C>A (p.Leu7307=)
|
|
|
|
NM_001164508.2(NEB):c.21921C>G (p.Leu7307=)
|
|
|
|
NM_001164508.2(NEB):c.21933A>G (p.Leu7311=)
|
rs2153458591
|
|
|
NM_001164508.2(NEB):c.21933_21934insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAATACTTTA (p.Ile7312delinsPhePhePhePhePhePheXaaXaaXaaXaaValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
|
|
NM_001164508.2(NEB):c.21939A>G (p.Glu7313=)
|
rs2153458580
|
|
|
NM_001164508.2(NEB):c.21942T>C (p.Ser7314=)
|
|
|
|
NM_001164508.2(NEB):c.21945+11A>G
|
|
|
|
NM_001164508.2(NEB):c.21945+13T>C
|
rs1553649614
|
|
|
NM_001164508.2(NEB):c.21945+16C>G
|
|
|
|
NM_001164508.2(NEB):c.21945+1G>A
|
|
|
|
NM_001164508.2(NEB):c.21945+1G>C
|
rs2153458564
|
|
|
NM_001164508.2(NEB):c.21945+8C>A
|
|
|
|
NM_001164508.2(NEB):c.21945+8C>T
|
rs2153458512
|
|
|
NM_001164508.2(NEB):c.21945+9C>T
|
|
|
|
NM_001164508.2(NEB):c.21945T>C (p.Asp7315=)
|
|
|
|
NM_001164508.2(NEB):c.21946-14T>C
|
|
|
|
NM_001164508.2(NEB):c.21946-18C>T
|
|
|
|
NM_001164508.2(NEB):c.21946-19C>T
|
rs1442285194
|
|
|
NM_001164508.2(NEB):c.21946-20C>T
|
|
|
|
NM_001164508.2(NEB):c.21946-5del
|
|
|
|
NM_001164508.2(NEB):c.21946-6C>G
|
rs2085770082
|
|
|
NM_001164508.2(NEB):c.21946-7C>T
|
rs2153453870
|
|
|
NM_001164508.2(NEB):c.21948G>C (p.Leu7316=)
|
|
|
|
NM_001164508.2(NEB):c.21956A>C (p.Lys7319Thr)
|
|
|
|
NM_001164508.2(NEB):c.21956A>G (p.Lys7319Arg)
|
|
|
|
NM_001164508.2(NEB):c.21960dup (p.Lys7321fs)
|
|
|
|
NM_001164508.2(NEB):c.21966T>C (p.His7322=)
|
|
|
|
NM_001164508.2(NEB):c.21969C>T (p.Val7323=)
|
rs554809115
|
|
|
NM_001164508.2(NEB):c.21972G>A (p.Lys7324=)
|
rs267598918
|
|
|
NM_001164508.2(NEB):c.21980G>C (p.Gly7327Ala)
|
rs751167749
|
|
|
NM_001164508.2(NEB):c.21981A>G (p.Gly7327=)
|
rs2153453611
|
|
|
NM_001164508.2(NEB):c.21982A>G (p.Thr7328Ala)
|
|
|
|
NM_001164508.2(NEB):c.21983C>A (p.Thr7328Asn)
|
|
|
|
NM_001164508.2(NEB):c.21988C>G (p.His7330Asp)
|
|
|
|
NM_001164508.2(NEB):c.21996A>G (p.Val7332=)
|
|
|
|
NM_001164508.2(NEB):c.219G>A (p.Arg73=)
|
|
|
|
NM_001164508.2(NEB):c.22005G>T (p.Thr7335=)
|
|
|
|
NM_001164508.2(NEB):c.22007C>T (p.Pro7336Leu)
|
rs1559547106
|
|
|
NM_001164508.2(NEB):c.22008T>A (p.Pro7336=)
|
|
|
|
NM_001164508.2(NEB):c.2200C>T (p.Gln734Ter)
|
rs780299519
|
|
|
NM_001164508.2(NEB):c.22011G>A (p.Gln7337=)
|
rs774410460
|
|
|
NM_001164508.2(NEB):c.22014C>T (p.Ile7338=)
|
|
|
|
NM_001164508.2(NEB):c.22016del (p.Leu7339fs)
|
rs2153453450
|
|
|
NM_001164508.2(NEB):c.22020G>A (p.Leu7340=)
|
rs2153453430
|
|
|
NM_001164508.2(NEB):c.22025A>G (p.Lys7342Arg)
|
|
|
|
NM_001164508.2(NEB):c.22026G>A (p.Lys7342=)
|
|
|
|
NM_001164508.2(NEB):c.22026G>C (p.Lys7342Asn)
|
|
|
|
NM_001164508.2(NEB):c.2202G>C (p.Gln734His)
|
|
|
|
NM_001164508.2(NEB):c.22030_22031del (p.Val7344fs)
|
|
|
|
NM_001164508.2(NEB):c.22034G>C (p.Ser7345Thr)
|
|
|
|
NM_001164508.2(NEB):c.22039C>T (p.Leu7347=)
|
rs2085711900
|
|
|
NM_001164508.2(NEB):c.22042G>A (p.Val7348Met)
|
rs200918570
|
|
|
NM_001164508.2(NEB):c.22044_22045del (p.Val7348_Ser7349insTer)
|
rs2153453236
|
|
|
NM_001164508.2(NEB):c.22047T>C (p.Ser7349=)
|
rs2153453220
|
|
|
NM_001164508.2(NEB):c.22050+10A>C
|
|
|
|
NM_001164508.2(NEB):c.22050+12C>T
|
|
|
|
NM_001164508.2(NEB):c.22050+16C>T
|
|
|
|
NM_001164508.2(NEB):c.22050+18A>G
|
|
|
|
NM_001164508.2(NEB):c.22050+20G>A
|
rs758004610
|
|
|
NM_001164508.2(NEB):c.22050+9C>G
|
|
|
|
NM_001164508.2(NEB):c.22051-14A>G
|
|
|
|
NM_001164508.2(NEB):c.22051-20C>G
|
|
|
|
NM_001164508.2(NEB):c.22051-4C>T
|
rs2153452529
|
|
|
NM_001164508.2(NEB):c.22051-6C>T
|
|
|
|
NM_001164508.2(NEB):c.22051-7C>T
|
|
|
|
NM_001164508.2(NEB):c.22071C>G (p.Val7357=)
|
|
|
|
NM_001164508.2(NEB):c.22083G>A (p.Leu7361=)
|
|
|
|
NM_001164508.2(NEB):c.22089G>A (p.Gln7363=)
|
|
|
|
NM_001164508.2(NEB):c.22090G>C (p.Gly7364Arg)
|
rs2085588572
|
|
|
NM_001164508.2(NEB):c.22092C>G (p.Gly7364=)
|
|
|
|
NM_001164508.2(NEB):c.22095A>G (p.Ser7365=)
|
|
|
|
NM_001164508.2(NEB):c.22096T>C (p.Tyr7366His)
|
|
|
|
NM_001164508.2(NEB):c.22098C>T (p.Tyr7366=)
|
|
|
|
NM_001164508.2(NEB):c.22107A>G (p.Leu7369=)
|
|
|
|
NM_001164508.2(NEB):c.22109C>G (p.Pro7370Arg)
|
|
|
|
NM_001164508.2(NEB):c.2211+11T>C
|
|
|
|
NM_001164508.2(NEB):c.2211+12G>T
|
rs2099553755
|
|
|
NM_001164508.2(NEB):c.2211+15C>A
|
|
|
|
NM_001164508.2(NEB):c.2211+15C>G
|
|
|
|
NM_001164508.2(NEB):c.2211+19A>G
|
|
|
|
NM_001164508.2(NEB):c.2211+2T>A
|
rs2149150540
|
|
|
NM_001164508.2(NEB):c.2211+4A>C
|
rs2099553895
|
|
|
NM_001164508.2(NEB):c.2211+5G>A
|
rs797045736
|
|
|
NM_001164508.2(NEB):c.22114A>T (p.Thr7372Ser)
|
rs750642580
|
|
|
NM_001164508.2(NEB):c.22116C>G (p.Thr7372=)
|
|
|
|
NM_001164508.2(NEB):c.22119G>A (p.Arg7373=)
|
rs2153452193
|
|
|
NM_001164508.2(NEB):c.2211T>C (p.Asp737=)
|
rs765620977
|
|
|
NM_001164508.2(NEB):c.2212-12C>A
|
|
|
|
NM_001164508.2(NEB):c.2212-12C>G
|
|
|
|
NM_001164508.2(NEB):c.2212-12C>T
|
|
|
|
NM_001164508.2(NEB):c.2212-14A>G
|
|
|
|
NM_001164508.2(NEB):c.2212-18G>A
|
|
|
|
NM_001164508.2(NEB):c.2212-18G>C
|
|
|
|
NM_001164508.2(NEB):c.2212-18G>T
|
|
|
|
NM_001164508.2(NEB):c.2212-1G>A
|
rs2149103521
|
|
|
NM_001164508.2(NEB):c.2212-9C>T
|
|
|
|
NM_001164508.2(NEB):c.2212-9_2212-7del
|
rs2099542943
|
|
|
NM_001164508.2(NEB):c.22122C>T (p.Asp7374=)
|
|
|
|
NM_001164508.2(NEB):c.22124C>T (p.Thr7375Ile)
|
rs1195608964
|
|
|
NM_001164508.2(NEB):c.22131C>T (p.His7377=)
|
|
|
|
NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile)
|
rs764524918
|
|
|
NM_001164508.2(NEB):c.22134C>T (p.Val7378=)
|
|
|
|
NM_001164508.2(NEB):c.22138del (p.Glu7380fs)
|
rs1235589246
|
|
|
NM_001164508.2(NEB):c.22143G>A (p.Val7381=)
|
|
|
|
NM_001164508.2(NEB):c.22148A>C (p.Lys7383Thr)
|
|
|
|
NM_001164508.2(NEB):c.22153G>T (p.Val7385Phe)
|
|
|
|
NM_001164508.2(NEB):c.22155C>A (p.Val7385=)
|
rs2085548955
|
|
|
NM_001164508.2(NEB):c.22155C>T (p.Val7385=)
|
|
|
|
NM_001164508.2(NEB):c.22161+16C>T
|
|
|
|
NM_001164508.2(NEB):c.22161+17_22161+18delinsTC
|
rs2153451799
|
|
|
NM_001164508.2(NEB):c.22161+18G>A
|
|
|
|
NM_001164508.2(NEB):c.22161+18G>C
|
rs6721666
|
|
|
NM_001164508.2(NEB):c.22161+18G>T
|
|
|
|
NM_001164508.2(NEB):c.22161+18_22161+19insC
|
|
|
|
NM_001164508.2(NEB):c.22161+1G>A
|
rs112933443
|
|
|
NM_001164508.2(NEB):c.22161+7G>A
|
rs1019461241
|
|
|
NM_001164508.2(NEB):c.22161+7G>C
|
|
|
|
NM_001164508.2(NEB):c.22161+8A>G
|
rs2153451874
|
|
|
NM_001164508.2(NEB):c.22162-14C>T
|
|
|
|
NM_001164508.2(NEB):c.22162-19T>C
|
|
|
|
NM_001164508.2(NEB):c.22162-6A>G
|
rs2153447957
|
|
|
NM_001164508.2(NEB):c.2216C>A (p.Thr739Asn)
|
rs2099542868
|
|
|
NM_001164508.2(NEB):c.22173A>T (p.Lys7391Asn)
|
rs2085025144
|
|
|
NM_001164508.2(NEB):c.22175del (p.Lys7392fs)
|
rs2153447885
|
|
|
NM_001164508.2(NEB):c.22179G>A (p.Lys7393=)
|
rs1296105706
|
|
|
NM_001164508.2(NEB):c.22181T>C (p.Phe7394Ser)
|
rs2153447855
|
|
|
NM_001164508.2(NEB):c.22194A>G (p.Lys7398=)
|
rs1232660353
|
|
|
NM_001164508.2(NEB):c.22197A>G (p.Gly7399=)
|
rs748084943
|
|
|
NM_001164508.2(NEB):c.22203C>G (p.Ser7401=)
|
rs2085013624
|
|
|
NM_001164508.2(NEB):c.22206C>T (p.Asn7402=)
|
|
|
|
NM_001164508.2(NEB):c.22213A>G (p.Ile7405Val)
|
rs2153447751
|
|
|
NM_001164508.2(NEB):c.22220del (p.Leu7407fs)
|
|
|
|
NM_001164508.2(NEB):c.22221G>T (p.Leu7407=)
|
|
|
|
NM_001164508.2(NEB):c.22224G>A (p.Glu7408=)
|
|
|
|
NM_001164508.2(NEB):c.22228C>T (p.Pro7410Ser)
|
|
|
|
NM_001164508.2(NEB):c.22229del (p.Pro7410fs)
|
|
|
|
NM_001164508.2(NEB):c.22231G>A (p.Glu7411Lys)
|
|
|
|
NM_001164508.2(NEB):c.22233G>A (p.Glu7411=)
|
|
|
|
NM_001164508.2(NEB):c.22233G>C (p.Glu7411Asp)
|
rs1576243073
|
|
|
NM_001164508.2(NEB):c.2223A>G (p.Lys741=)
|
|
|
|
NM_001164508.2(NEB):c.22242T>C (p.His7414=)
|
|
|
|
NM_001164508.2(NEB):c.22249G>C (p.Glu7417Gln)
|
|
|
|
NM_001164508.2(NEB):c.22252G>A (p.Val7418Met)
|
|
|
|
NM_001164508.2(NEB):c.22254G>A (p.Val7418=)
|
rs1576242281
|
|
|
NM_001164508.2(NEB):c.22256_22257delinsG (p.Ala7419fs)
|
rs1559534672
|
|
|
NM_001164508.2(NEB):c.22257C>A (p.Ala7419=)
|
|
|
|
NM_001164508.2(NEB):c.22261A>G (p.Lys7421Glu)
|
|
|
|
NM_001164508.2(NEB):c.22262A>G (p.Lys7421Arg)
|
|
|
|
NM_001164508.2(NEB):c.22264C>G (p.Gln7422Glu)
|
rs369642754
|
|
|
NM_001164508.2(NEB):c.22269T>C (p.Ser7423=)
|
rs2153447396
|
|
|
NM_001164508.2(NEB):c.2226T>G (p.Val742=)
|
|
|
|
NM_001164508.2(NEB):c.22272+10C>T
|
|
|
|
NM_001164508.2(NEB):c.22272+17A>G
|
|
|
|
NM_001164508.2(NEB):c.22272+1G>A
|
|
|
|
NM_001164508.2(NEB):c.22272+2_22272+3del
|
rs2153447342
|
|
|
NM_001164508.2(NEB):c.22272+9del
|
rs2153447269
|
|
|
NM_001164508.2(NEB):c.22273-17T>C
|
|
|
|
NM_001164508.2(NEB):c.22273-20C>T
|
|
|
|
NM_001164508.2(NEB):c.22273-4A>G
|
rs2153439900
|
|
|
NM_001164508.2(NEB):c.22273-7A>G
|
rs755544084
|
|
|
NM_001164508.2(NEB):c.22273-7A>T
|
rs755544084
|
|
|
NM_001164508.2(NEB):c.22273G>T (p.Val7425Phe)
|
rs752028559
|
|
|
NM_001164508.2(NEB):c.22275C>T (p.Val7425=)
|
rs2153439817
|
|
|
NM_001164508.2(NEB):c.22276del (p.Ala7426fs)
|
|
|
|
NM_001164508.2(NEB):c.22284A>G (p.Arg7428=)
|
rs2153439721
|
|
|
NM_001164508.2(NEB):c.22290T>C (p.Asp7430=)
|
rs2153439690
|
|
|
NM_001164508.2(NEB):c.22299G>A (p.Glu7433=)
|
|
|
|
NM_001164508.2(NEB):c.22301A>C (p.Asn7434Thr)
|
|
|
|
NM_001164508.2(NEB):c.22302C>T (p.Asn7434=)
|
rs188004000
|
|
|
NM_001164508.2(NEB):c.22305G>A (p.Leu7435=)
|
|
|
|
NM_001164508.2(NEB):c.22305G>C (p.Leu7435=)
|
rs1377472820
|
|
|
NM_001164508.2(NEB):c.2230C>T (p.Pro744Ser)
|
|
|
|
NM_001164508.2(NEB):c.22311C>T (p.Tyr7437=)
|
rs760746706
|
|
|
NM_001164508.2(NEB):c.22312_22315dup (p.Thr7439fs)
|
rs2084217268
|
|
|
NM_001164508.2(NEB):c.22313C>T (p.Thr7438Ile)
|
rs2153439522
|
|
|
NM_001164508.2(NEB):c.22323T>C (p.Ala7441=)
|
|
|
|
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter)
|
rs1576203853
|
|
|
NM_001164508.2(NEB):c.22328G>A (p.Arg7443Gln)
|
|
|
|
NM_001164508.2(NEB):c.22328G>C (p.Arg7443Pro)
|
rs2084210932
|
|
|
NM_001164508.2(NEB):c.22330C>G (p.Pro7444Ala)
|
|
|
|
NM_001164508.2(NEB):c.22332A>G (p.Pro7444=)
|
rs2153439382
|
|
|
NM_001164508.2(NEB):c.22333_22339del (p.Asp7445fs)
|
|
|
|
NM_001164508.2(NEB):c.22335C>T (p.Asp7445=)
|
rs2153439353
|
|
|
NM_001164508.2(NEB):c.22342A>G (p.Lys7448Glu)
|
|
|
|
NM_001164508.2(NEB):c.22345G>T (p.Ala7449Ser)
|
|
|
|
NM_001164508.2(NEB):c.22347C>G (p.Ala7449=)
|
|
|
|
NM_001164508.2(NEB):c.22347C>T (p.Ala7449=)
|
rs2153439256
|
|
|
NM_001164508.2(NEB):c.2234A>G (p.Asp745Gly)
|
rs1436329266
|
|
|
NM_001164508.2(NEB):c.22351C>G (p.Gln7451Glu)
|
rs2084197089
|
|
|
NM_001164508.2(NEB):c.22351C>T (p.Gln7451Ter)
|
|
|
|
NM_001164508.2(NEB):c.22356A>G (p.Ala7452=)
|
|
|
|
NM_001164508.2(NEB):c.2235T>C (p.Asp745=)
|
rs2149102627
|
|
|
NM_001164508.2(NEB):c.22365G>A (p.Gln7455=)
|
|
|
|
NM_001164508.2(NEB):c.22367C>T (p.Ala7456Val)
|
rs2153439115
|
|
|
NM_001164508.2(NEB):c.22374+17A>C
|
|
|
|
NM_001164508.2(NEB):c.22374+19T>C
|
|
|
|
NM_001164508.2(NEB):c.22374+7G>A
|
rs750007608
|
|
|
NM_001164508.2(NEB):c.22374+7G>C
|
|
|
|
NM_001164508.2(NEB):c.22374+9del
|
|
|
|
NM_001164508.2(NEB):c.22375-12T>C
|
|
|
|
NM_001164508.2(NEB):c.22375-16G>T
|
|
|
|
NM_001164508.2(NEB):c.22375-1G>C
|
|
|
|
NM_001164508.2(NEB):c.22375-2A>G
|
rs2153437998
|
|
|
NM_001164508.2(NEB):c.22375-5T>A
|
|
|
|
NM_001164508.2(NEB):c.22375-7G>C
|
rs2153438059
|
|
|
NM_001164508.2(NEB):c.22375-8T>G
|
|
|
|
NM_001164508.2(NEB):c.22375-9C>G
|
|
|
|
NM_001164508.2(NEB):c.22389C>T (p.Ala7463=)
|
|
|
|
NM_001164508.2(NEB):c.22392G>A (p.Lys7464=)
|
|
|
|
NM_001164508.2(NEB):c.22397G>A (p.Arg7466His)
|
|
|
|
NM_001164508.2(NEB):c.22398C>G (p.Arg7466=)
|
rs1435249313
|
|
|
NM_001164508.2(NEB):c.22401G>A (p.Lys7467=)
|
rs2153437849
|
|
|
NM_001164508.2(NEB):c.22403A>C (p.Glu7468Ala)
|
|
|
|
NM_001164508.2(NEB):c.2240C>A (p.Thr747Asn)
|
|
|
|
NM_001164508.2(NEB):c.22411C>T (p.His7471Tyr)
|
|
|
|
NM_001164508.2(NEB):c.22417T>C (p.Leu7473=)
|
|
|
|
NM_001164508.2(NEB):c.22418dup (p.Leu7473fs)
|
rs2084059565
|
|
|
NM_001164508.2(NEB):c.2241C>A (p.Thr747=)
|
rs2149102366
|
|
|
NM_001164508.2(NEB):c.2241C>T (p.Thr747=)
|
rs2149102366
|
|
|
NM_001164508.2(NEB):c.22424T>C (p.Met7475Thr)
|
|
|
|
NM_001164508.2(NEB):c.22431T>A (p.Gly7477=)
|
|
|
|
NM_001164508.2(NEB):c.22431T>C (p.Gly7477=)
|
|
|
|
NM_001164508.2(NEB):c.2243A>G (p.Lys748Arg)
|
|
|
|
NM_001164508.2(NEB):c.22440C>T (p.Asp7480=)
|
rs2153437562
|
|
|
NM_001164508.2(NEB):c.22447A>T (p.Met7483Leu)
|
|
|
|
NM_001164508.2(NEB):c.2244A>G (p.Lys748=)
|
rs2149102227
|
|
|
NM_001164508.2(NEB):c.22452C>A (p.Ala7484=)
|
rs766289411
|
|
|
NM_001164508.2(NEB):c.22456_22457delinsGC (p.Lys7486Ala)
|
|
|
|
NM_001164508.2(NEB):c.22458G>A (p.Lys7486=)
|
|
|
|
NM_001164508.2(NEB):c.22464C>G (p.Ala7488=)
|
rs2153437476
|
|
|
NM_001164508.2(NEB):c.22466A>G (p.Lys7489Arg)
|
rs2084038575
|
|
|
NM_001164508.2(NEB):c.22468C>T (p.Leu7490=)
|
|
|
|
NM_001164508.2(NEB):c.22470G>A (p.Leu7490=)
|
rs1345567872
|
|
|
NM_001164508.2(NEB):c.22476C>T (p.Ser7492=)
|
|
|
|
NM_001164508.2(NEB):c.22477C>T (p.Gln7493Ter)
|
|
|
|
NM_001164508.2(NEB):c.22479+10A>T
|
rs2153437271
|
|
|
NM_001164508.2(NEB):c.22479+11T>A
|
|
|
|
NM_001164508.2(NEB):c.22479+11dup
|
|
|
|
NM_001164508.2(NEB):c.22479+16G>A
|
|
|
|
NM_001164508.2(NEB):c.22479+16G>C
|
|
|
|
NM_001164508.2(NEB):c.22479+16G>T
|
|
|
|
NM_001164508.2(NEB):c.22479+16dup
|
|
|
|
NM_001164508.2(NEB):c.22479+19C>T
|
|
|
|
NM_001164508.2(NEB):c.22479+4A>C
|
|
|
|
NM_001164508.2(NEB):c.22480-11T>C
|
|
|
|
NM_001164508.2(NEB):c.22480-12A>G
|
|
|
|
NM_001164508.2(NEB):c.22480-16T>C
|
|
|
|
NM_001164508.2(NEB):c.22480-19T>C
|
|
|
|
NM_001164508.2(NEB):c.22480-1G>C
|
|
|
|
NM_001164508.2(NEB):c.22480-20A>T
|
|
|
|
NM_001164508.2(NEB):c.22480-5G>T
|
rs753985158
|
|
|
NM_001164508.2(NEB):c.22485A>G (p.Lys7495=)
|
|
|
|
NM_001164508.2(NEB):c.22489C>A (p.Arg7497=)
|
|
|
|
NM_001164508.2(NEB):c.22490G>A (p.Arg7497Gln)
|
|
|
|
NM_001164508.2(NEB):c.22500C>A (p.Phe7500Leu)
|
|
|
|
NM_001164508.2(NEB):c.22501G>T (p.Asp7501Tyr)
|
|
|
|
NM_001164508.2(NEB):c.22509A>G (p.Glu7503=)
|
rs1382948788
|
|
|
NM_001164508.2(NEB):c.2250G>T (p.Thr750=)
|
|
|
|
NM_001164508.2(NEB):c.22511del (p.Lys7504fs)
|
rs2080623161
|
|
|
NM_001164508.2(NEB):c.22512G>A (p.Lys7504=)
|
|
|
|
NM_001164508.2(NEB):c.22513G>A (p.Gly7505Ser)
|
|
|
|
NM_001164508.2(NEB):c.22520C>T (p.Thr7507Ile)
|
|
|
|
NM_001164508.2(NEB):c.22523C>T (p.Pro7508Leu)
|
rs780741468
|
|
|
NM_001164508.2(NEB):c.2252C>T (p.Ala751Val)
|
|
|
|
NM_001164508.2(NEB):c.22531A>G (p.Asn7511Asp)
|
rs2153396290
|
|
|
NM_001164508.2(NEB):c.22532A>C (p.Asn7511Thr)
|
|
|
|
NM_001164508.2(NEB):c.22535C>G (p.Pro7512Arg)
|
rs376609115
|
|
|
NM_001164508.2(NEB):c.22536A>G (p.Pro7512=)
|
rs2153396215
|
|
|
NM_001164508.2(NEB):c.2253A>G (p.Ala751=)
|
rs2149101806
|
|
|
NM_001164508.2(NEB):c.22548G>A (p.Gln7516=)
|
rs200776925
|
|
|
NM_001164508.2(NEB):c.22554C>T (p.Tyr7518=)
|
|
|
|
NM_001164508.2(NEB):c.22555A>G (p.Lys7519Glu)
|
rs2080605863
|
|
|
NM_001164508.2(NEB):c.22560C>T (p.Val7520=)
|
|
|
|
NM_001164508.2(NEB):c.22567G>C (p.Asp7523His)
|
rs2153395893
|
|
|
NM_001164508.2(NEB):c.22575T>C (p.Asn7525=)
|
|
|
|
NM_001164508.2(NEB):c.22590+7T>A
|
rs2153395506
|
|
|
NM_001164508.2(NEB):c.22591-10T>C
|
rs2153386698
|
|
|
NM_001164508.2(NEB):c.22591-11A>G
|
|
|
|
NM_001164508.2(NEB):c.22591-12C>T
|
|
|
|
NM_001164508.2(NEB):c.22591-12dup
|
|
|
|
NM_001164508.2(NEB):c.22591-14C>T
|
|
|
|
NM_001164508.2(NEB):c.22591-15C>T
|
|
|
|
NM_001164508.2(NEB):c.22591-17del
|
|
|
|
NM_001164508.2(NEB):c.22591-18T>C
|
|
|
|
NM_001164508.2(NEB):c.22591-3C>T
|
rs778824203
|
|
|
NM_001164508.2(NEB):c.22591-9A>G
|
|
|
|
NM_001164508.2(NEB):c.22595A>G (p.Lys7532Arg)
|
|
|
|
NM_001164508.2(NEB):c.22597_22601del (p.Tyr7533fs)
|
|
|
|
NM_001164508.2(NEB):c.22599C>T (p.Tyr7533=)
|
rs1279113627
|
|
|
NM_001164508.2(NEB):c.22609C>T (p.Leu7537=)
|
|
|
|
NM_001164508.2(NEB):c.22611G>A (p.Leu7537=)
|
rs2153386407
|
|
|
NM_001164508.2(NEB):c.22613A>T (p.Lys7538Met)
|
|
|
|
NM_001164508.2(NEB):c.22619T>C (p.Leu7540Pro)
|
|
|
|
NM_001164508.2(NEB):c.22629C>G (p.Pro7543=)
|
|
|
|
NM_001164508.2(NEB):c.22638C>T (p.Asp7546=)
|
rs372279388
|
|
|
NM_001164508.2(NEB):c.2263T>C (p.Ser755Pro)
|
|
|
|
NM_001164508.2(NEB):c.22641del (p.Met7547fs)
|
rs1057515573
|
|
|
NM_001164508.2(NEB):c.22645G>T (p.Glu7549Ter)
|
rs2080077889
|
|
|
NM_001164508.2(NEB):c.2264C>G (p.Ser755Cys)
|
|
|
|
NM_001164508.2(NEB):c.2264C>T (p.Ser755Phe)
|
|
|
|
NM_001164508.2(NEB):c.22651C>T (p.Leu7551=)
|
|
|
|
NM_001164508.2(NEB):c.22651_22652del (p.Leu7551fs)
|
rs2153386052
|
|
|
NM_001164508.2(NEB):c.22652del (p.Leu7551fs)
|
|
|
|
NM_001164508.2(NEB):c.22653G>A (p.Leu7551=)
|
|
|
|
NM_001164508.2(NEB):c.22665T>C (p.His7555=)
|
rs1002497843
|
|
|
NM_001164508.2(NEB):c.22676C>T (p.Thr7559Ile)
|
rs2080067943
|
|
|
NM_001164508.2(NEB):c.22677A>C (p.Thr7559=)
|
rs778662915
|
|
|
NM_001164508.2(NEB):c.22677A>G (p.Thr7559=)
|
|
|
|
NM_001164508.2(NEB):c.22677A>T (p.Thr7559=)
|
rs778662915
|
|
|
NM_001164508.2(NEB):c.22683A>G (p.Gln7561=)
|
rs2153385875
|
|
|
NM_001164508.2(NEB):c.2268T>C (p.Pro756=)
|
|
|
|
NM_001164508.2(NEB):c.22690A>G (p.Ser7564Gly)
|
rs749222946
|
|
|
NM_001164508.2(NEB):c.22695+11T>C
|
|
|
|
NM_001164508.2(NEB):c.22695+13A>G
|
|
|
|
NM_001164508.2(NEB):c.22695+14T>C
|
|
|
|
NM_001164508.2(NEB):c.22695+18C>T
|
|
|
|
NM_001164508.2(NEB):c.22695+9A>C
|
rs2153385709
|
|
|
NM_001164508.2(NEB):c.22695+9A>G
|
|
|
|
NM_001164508.2(NEB):c.22696-11C>G
|
|
|
|
NM_001164508.2(NEB):c.22696-11C>T
|
|
|
|
NM_001164508.2(NEB):c.22696-12C>T
|
|
|
|
NM_001164508.2(NEB):c.22696-13G>A
|
|
|
|
NM_001164508.2(NEB):c.22696-14C>T
|
|
|
|
NM_001164508.2(NEB):c.22696-17T>C
|
|
|
|
NM_001164508.2(NEB):c.22696-19T>G
|
|
|
|
NM_001164508.2(NEB):c.22696-2A>C
|
|
|
|
NM_001164508.2(NEB):c.22698C>T (p.Tyr7566=)
|
rs1454465802
|
|
|
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del)
|
rs760161843
|
|
|
NM_001164508.2(NEB):c.22708A>T (p.Lys7570Ter)
|
|
|
|
NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)
|
|
|
|
NM_001164508.2(NEB):c.2271A>G (p.Val757=)
|
|
|
|
NM_001164508.2(NEB):c.22728dup (p.Gly7577fs)
|
|
|
|
NM_001164508.2(NEB):c.22732C>G (p.His7578Asp)
|
|
|
|
NM_001164508.2(NEB):c.22740C>T (p.His7580=)
|
rs769553483
|
|
|
NM_001164508.2(NEB):c.22747C>T (p.Pro7583Ser)
|
rs2153380639
|
|
|
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg)
|
rs1575897069
|
|
|
NM_001164508.2(NEB):c.22752T>C (p.Asp7584=)
|
rs2153380546
|
|
|
NM_001164508.2(NEB):c.22754A>C (p.Asn7585Thr)
|
|
|
|
NM_001164508.2(NEB):c.22761G>A (p.Glu7587=)
|
rs2153380494
|
|
|
NM_001164508.2(NEB):c.22770C>T (p.His7590=)
|
|
|
|
NM_001164508.2(NEB):c.22771C>A (p.Leu7591Ile)
|
|
|
|
NM_001164508.2(NEB):c.22776dup (p.Glu7593fs)
|
rs2079459982
|
|
|
NM_001164508.2(NEB):c.22779G>A (p.Glu7593=)
|
|
|
|
NM_001164508.2(NEB):c.22788A>G (p.Glu7596=)
|
|
|
|
NM_001164508.2(NEB):c.22789T>C (p.Leu7597=)
|
rs1303098129
|
|
|
NM_001164508.2(NEB):c.22792C>T (p.Gln7598Ter)
|
rs752267876
|
|
|
NM_001164508.2(NEB):c.22792_22793del (p.Gln7598fs)
|
|
|
|
NM_001164508.2(NEB):c.22797T>C (p.Ser7599=)
|
rs2153380225
|
|
|
NM_001164508.2(NEB):c.22800+14G>A
|
rs2153380065
|
|
|
NM_001164508.2(NEB):c.22800+16C>T
|
|
|
|
NM_001164508.2(NEB):c.22800+17C>T
|
|
|
|
NM_001164508.2(NEB):c.22800+18G>A
|
|
|
|
NM_001164508.2(NEB):c.22800+18G>T
|
|
|
|
NM_001164508.2(NEB):c.22800+2T>G
|
rs1553627466
|
|
|
NM_001164508.2(NEB):c.22800+8G>A
|
|
|
|
NM_001164508.2(NEB):c.22801-19C>T
|
|
|
|
NM_001164508.2(NEB):c.22801-9T>C
|
rs2153355531
|
|
|
NM_001164508.2(NEB):c.22812A>G (p.Lys7604=)
|
rs2153355196
|
|
|
NM_001164508.2(NEB):c.22812del (p.Glu7605fs)
|
rs2153355216
|
|
|
NM_001164508.2(NEB):c.22813G>A (p.Glu7605Lys)
|
|
|
|
NM_001164508.2(NEB):c.22813G>T (p.Glu7605Ter)
|
rs767967099
|
|
|
NM_001164508.2(NEB):c.22814_22818del (p.Glu7605fs)
|
|
|
|
NM_001164508.2(NEB):c.22815A>G (p.Glu7605=)
|
rs1156733550
|
|
|
NM_001164508.2(NEB):c.22824A>G (p.Glu7608=)
|
|
|
|
NM_001164508.2(NEB):c.22833A>G (p.Arg7611=)
|
|
|
|
NM_001164508.2(NEB):c.22841C>T (p.Pro7614Leu)
|
rs1182955893
|
|
|
NM_001164508.2(NEB):c.22844T>C (p.Met7615Thr)
|
|
|
|
NM_001164508.2(NEB):c.22846C>T (p.Leu7616=)
|
|
|
|
NM_001164508.2(NEB):c.22848G>A (p.Leu7616=)
|
|
|
|
NM_001164508.2(NEB):c.22860A>T (p.Thr7620=)
|
|
|
|
NM_001164508.2(NEB):c.22863A>G (p.Pro7621=)
|
|
|
|
NM_001164508.2(NEB):c.22865C>T (p.Thr7622Met)
|
|
|
|
NM_001164508.2(NEB):c.22866G>A (p.Thr7622=)
|
|
|
|
NM_001164508.2(NEB):c.22872C>T (p.Ile7624=)
|
rs1396527518
|
|
|
NM_001164508.2(NEB):c.22900A>G (p.Ser7634Gly)
|
|
|
|
NM_001164508.2(NEB):c.22905+13_22905+14dup
|
|
|
|
NM_001164508.2(NEB):c.22905+14dup
|
rs565867868
|
|
|
NM_001164508.2(NEB):c.22905+18C>T
|
|
|
|
NM_001164508.2(NEB):c.22905+19A>G
|
|
|
|
NM_001164508.2(NEB):c.22905+1del
|
rs771740564
|
|
|
NM_001164508.2(NEB):c.22905+20C>T
|
|
|
|
NM_001164508.2(NEB):c.22905+7C>A
|
rs1426040506
|
|
|
NM_001164508.2(NEB):c.22905+7C>T
|
rs1426040506
|
|
|
NM_001164508.2(NEB):c.22905+8A>T
|
|
|
|
NM_001164508.2(NEB):c.22906-18C>T
|
|
|
|
NM_001164508.2(NEB):c.22906-19T>G
|
|
|
|
NM_001164508.2(NEB):c.22906-4T>A
|
rs2153321999
|
|
|
NM_001164508.2(NEB):c.22910A>T (p.Glu7637Val)
|
|
|
|
NM_001164508.2(NEB):c.22912T>C (p.Tyr7638His)
|
|
|
|
NM_001164508.2(NEB):c.22914T>A (p.Tyr7638Ter)
|
|
|
|
NM_001164508.2(NEB):c.22914T>C (p.Tyr7638=)
|
rs1035343199
|
|
|
NM_001164508.2(NEB):c.22926T>C (p.Tyr7642=)
|
|
|
|
NM_001164508.2(NEB):c.22931del (p.Glu7644fs)
|
|
|
|
NM_001164508.2(NEB):c.22940A>G (p.Lys7647Arg)
|
|
|
|
NM_001164508.2(NEB):c.2294C>T (p.Thr765Met)
|
|
|
|
NM_001164508.2(NEB):c.22950C>G (p.Asn7650Lys)
|
rs2153320948
|
|
|
NM_001164508.2(NEB):c.22956T>C (p.Thr7652=)
|
rs1367326036
|
|
|
NM_001164508.2(NEB):c.2295G>A (p.Thr765=)
|
rs1453312460
|
|
|
NM_001164508.2(NEB):c.22966del (p.Val7656fs)
|
rs2153320686
|
|
|
NM_001164508.2(NEB):c.22968C>G (p.Val7656=)
|
|
|
|
NM_001164508.2(NEB):c.22968C>T (p.Val7656=)
|
|
|
|
NM_001164508.2(NEB):c.22972C>T (p.Pro7658Ser)
|
|
|
|
NM_001164508.2(NEB):c.22980G>A (p.Leu7660=)
|
rs773457010
|
|
|
NM_001164508.2(NEB):c.22985A>G (p.His7662Arg)
|
|
|
|
NM_001164508.2(NEB):c.22991A>C (p.Lys7664Thr)
|
|
|
|
NM_001164508.2(NEB):c.23005A>C (p.Ile7669Leu)
|
|
|
|
NM_001164508.2(NEB):c.23006T>C (p.Ile7669Thr)
|
|
|
|
NM_001164508.2(NEB):c.23014G>A (p.Glu7672Lys)
|
|
|
|
NM_001164508.2(NEB):c.23016+17C>A
|
|
|
|
NM_001164508.2(NEB):c.23016+20_23016+21del
|
rs996064152
|
|
|
NM_001164508.2(NEB):c.23016+3A>G
|
rs1194138148
|
|
|
NM_001164508.2(NEB):c.23016+4G>A
|
|
|
|
NM_001164508.2(NEB):c.23016+7C>G
|
rs2153319397
|
|
|
NM_001164508.2(NEB):c.23017-10C>T
|
rs1575745888
|
|
|
NM_001164508.2(NEB):c.23017-3_23017del
|
|
|
|
NM_001164508.2(NEB):c.23017-4A>G
|
rs2153307515
|
|
|
NM_001164508.2(NEB):c.23017-5T>C
|
|
|
|
NM_001164508.2(NEB):c.23017-6A>T
|
|
|
|
NM_001164508.2(NEB):c.23017-7G>A
|
rs2076447388
|
|
|
NM_001164508.2(NEB):c.23020G>C (p.Glu7674Gln)
|
|
|
|
NM_001164508.2(NEB):c.23028G>C (p.Arg7676Ser)
|
|
|
|
NM_001164508.2(NEB):c.2302C>A (p.Leu768Ile)
|
|
|
|
NM_001164508.2(NEB):c.23031A>G (p.Lys7677=)
|
rs968522988
|
|
|
NM_001164508.2(NEB):c.23034T>C (p.Asp7678=)
|
|
|
|
NM_001164508.2(NEB):c.23034T>G (p.Asp7678Glu)
|
|
|
|
NM_001164508.2(NEB):c.23049C>A (p.Ile7683=)
|
rs1205912884
|
|
|
NM_001164508.2(NEB):c.23050C>T (p.Arg7684Cys)
|
rs762019205
|
|
|
NM_001164508.2(NEB):c.23060G>A (p.Gly7687Asp)
|
|
|
|
NM_001164508.2(NEB):c.23060del (p.Gly7687fs)
|
|
|
|
NM_001164508.2(NEB):c.23064C>A (p.Leu7688=)
|
|
|
|
NM_001164508.2(NEB):c.23081C>T (p.Thr7694Ile)
|
|
|
|
NM_001164508.2(NEB):c.23082A>C (p.Thr7694=)
|
rs2153304822
|
|
|
NM_001164508.2(NEB):c.23083C>T (p.Pro7695Ser)
|
|
|
|
NM_001164508.2(NEB):c.23088C>T (p.Asp7696=)
|
rs2153304583
|
|
|
NM_001164508.2(NEB):c.23094A>G (p.Leu7698=)
|
rs2076410485
|
|
|
NM_001164508.2(NEB):c.230A>G (p.Asp77Gly)
|
|
|
|
NM_001164508.2(NEB):c.2310+14T>C
|
|
|
|
NM_001164508.2(NEB):c.2310+17A>C
|
|
|
|
NM_001164508.2(NEB):c.2310+17A>G
|
|
|
|
NM_001164508.2(NEB):c.2310+17A>T
|
|
|
|
NM_001164508.2(NEB):c.2310+18T>G
|
|
|
|
NM_001164508.2(NEB):c.2310+2_2310+3delinsAC
|
|
|
|
NM_001164508.2(NEB):c.23100A>G (p.Ala7700=)
|
rs2076409232
|
|
|
NM_001164508.2(NEB):c.23102A>G (p.Lys7701Arg)
|
|
|
|
NM_001164508.2(NEB):c.23103G>A (p.Lys7701=)
|
|
|
|
NM_001164508.2(NEB):c.23105A>G (p.Asn7702Ser)
|
|
|
|
NM_001164508.2(NEB):c.23109C>T (p.Ala7703=)
|
rs1575743148
|
|
|
NM_001164508.2(NEB):c.2311-9_2311-8del
|
rs2148992222
|
|
|
NM_001164508.2(NEB):c.23112T>C (p.Thr7704=)
|
rs2153304031
|
|
|
NM_001164508.2(NEB):c.23127+10C>T
|
rs2153303571
|
|
|
NM_001164508.2(NEB):c.23127+13C>A
|
|
|
|
NM_001164508.2(NEB):c.23127+15G>A
|
|
|
|
NM_001164508.2(NEB):c.23127+1G>A
|
|
|
|
NM_001164508.2(NEB):c.23127+20C>T
|
|
|
|
NM_001164508.2(NEB):c.23127+2T>A
|
|
|
|
NM_001164508.2(NEB):c.23127+8C>T
|
|
|
|
NM_001164508.2(NEB):c.23128-16T>C
|
|
|
|
NM_001164508.2(NEB):c.23128-19del
|
|
|
|
NM_001164508.2(NEB):c.23128-19dup
|
rs369229042
|
|
|
NM_001164508.2(NEB):c.23128-1G>T
|
|
|
|
NM_001164508.2(NEB):c.23128-20_23128-19dup
|
|
|
|
NM_001164508.2(NEB):c.23128-4A>G
|
|
|
|
NM_001164508.2(NEB):c.23128-6C>T
|
rs2153276594
|
|
|
NM_001164508.2(NEB):c.23128-8T>G
|
|
|
|
NM_001164508.2(NEB):c.23133A>G (p.Glu7711=)
|
rs2153276564
|
|
|
NM_001164508.2(NEB):c.23134_23144del (p.Tyr7712fs)
|
rs2153276539
|
|
|
NM_001164508.2(NEB):c.23135A>G (p.Tyr7712Cys)
|
|
|
|
NM_001164508.2(NEB):c.2313G>A (p.Leu771=)
|
|
|
|
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)
|
rs1575714905
|
|
|
NM_001164508.2(NEB):c.23145C>T (p.Asp7715=)
|
rs1267175445
|
|
|
NM_001164508.2(NEB):c.23146C>A (p.Leu7716Met)
|
|
|
|
NM_001164508.2(NEB):c.23146C>T (p.Leu7716=)
|
rs376977065
|
|
|
NM_001164508.2(NEB):c.23148G>A (p.Leu7716=)
|
rs2076016686
|
|
|
NM_001164508.2(NEB):c.23152C>T (p.Leu7718=)
|
rs2153276514
|
|
|
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
|
|
|
|
NM_001164508.2(NEB):c.23162A>C (p.Lys7721Thr)
|
|
|
|
NM_001164508.2(NEB):c.23163A>G (p.Lys7721=)
|
|
|
|
NM_001164508.2(NEB):c.23166A>C (p.Gly7722=)
|
rs1575713868
|
|
|
NM_001164508.2(NEB):c.23168G>A (p.Arg7723Lys)
|
rs947053462
|
|
|
NM_001164508.2(NEB):c.23172C>A (p.Gly7724=)
|
|
|
|
NM_001164508.2(NEB):c.23172C>G (p.Gly7724=)
|
|
|
|
NM_001164508.2(NEB):c.23173C>G (p.Leu7725Val)
|
|
|
|
NM_001164508.2(NEB):c.23173C>T (p.Leu7725=)
|
rs753855949
|
|
|
NM_001164508.2(NEB):c.23175dup (p.Asn7726fs)
|
|
|
|
NM_001164508.2(NEB):c.23182A>G (p.Met7728Val)
|
|
|
|
NM_001164508.2(NEB):c.23186C>T (p.Ala7729Val)
|
rs1284612506
|
|
|
NM_001164508.2(NEB):c.23190T>C (p.Asn7730=)
|
|
|
|
NM_001164508.2(NEB):c.23193A>G (p.Glu7731=)
|
rs1349733418
|
|
|
NM_001164508.2(NEB):c.23197_23205del (p.Pro7733_Phe7735del)
|
|
|
|
NM_001164508.2(NEB):c.231T>C (p.Asp77=)
|
|
|
|
NM_001164508.2(NEB):c.2320A>T (p.Lys774Ter)
|
|
|
|
NM_001164508.2(NEB):c.23210G>C (p.Arg7737Thr)
|
|
|
|
NM_001164508.2(NEB):c.23217G>A (p.Arg7739=)
|
rs2153276418
|
|
|
NM_001164508.2(NEB):c.23225C>G (p.Thr7742Ser)
|
|
|
|
NM_001164508.2(NEB):c.23230A>G (p.Ile7744Val)
|
rs2075994673
|
|
|
NM_001164508.2(NEB):c.23233G>T (p.Ala7745Ser)
|
rs1179461829
|
|
|
NM_001164508.2(NEB):c.23235C>G (p.Ala7745=)
|
|
|
|
NM_001164508.2(NEB):c.23241+14T>C
|
|
|
|
NM_001164508.2(NEB):c.23241+17G>A
|
|
|
|
NM_001164508.2(NEB):c.23241+18A>G
|
|
|
|
NM_001164508.2(NEB):c.23241+8C>T
|
rs2153276366
|
|
|
NM_001164508.2(NEB):c.23242-10T>C
|
rs2153274389
|
|
|
NM_001164508.2(NEB):c.23242-14G>A
|
|
|
|
NM_001164508.2(NEB):c.23242-15G>C
|
|
|
|
NM_001164508.2(NEB):c.23242-16C>T
|
|
|
|
NM_001164508.2(NEB):c.23242-2A>G
|
|
|
|
NM_001164508.2(NEB):c.23242-9G>A
|
|
|
|
NM_001164508.2(NEB):c.23242-9G>T
|
rs1328112461
|
|
|
NM_001164508.2(NEB):c.23242A>G (p.Ile7748Val)
|
rs767590150
|
|
|
NM_001164508.2(NEB):c.23247G>A (p.Lys7749=)
|
rs2153274047
|
|
|
NM_001164508.2(NEB):c.23250T>C (p.Tyr7750=)
|
rs1559411124
|
|
|
NM_001164508.2(NEB):c.23253G>A (p.Lys7751=)
|
rs1575685245
|
|
|
NM_001164508.2(NEB):c.23259A>G (p.Ser7753=)
|
rs2153273927
|
|
|
NM_001164508.2(NEB):c.23271G>A (p.Glu7757=)
|
|
|
|
NM_001164508.2(NEB):c.23283del (p.Phe7761fs)
|
|
|
|
NM_001164508.2(NEB):c.23288C>T (p.Ser7763Phe)
|
|
|
|
NM_001164508.2(NEB):c.23301T>C (p.Thr7767=)
|
rs2153273534
|
|
|
NM_001164508.2(NEB):c.23304A>C (p.Pro7768=)
|
|
|
|
NM_001164508.2(NEB):c.23310C>T (p.Ile7770=)
|
rs2153273450
|
|
|
NM_001164508.2(NEB):c.23314C>T (p.His7772Tyr)
|
rs2075487458
|
|
|
NM_001164508.2(NEB):c.23315A>G (p.His7772Arg)
|
rs776379234
|
|
|
NM_001164508.2(NEB):c.23316T>A (p.His7772Gln)
|
|
|
|
NM_001164508.2(NEB):c.2331T>C (p.His777=)
|
|
|
|
NM_001164508.2(NEB):c.23320C>T (p.Gln7774Ter)
|
|
|
|
NM_001164508.2(NEB):c.23320CAA[1] (p.Gln7775del)
|
rs1553614214
|
|
|
NM_001164508.2(NEB):c.23322A>G (p.Gln7774=)
|
rs746862475
|
|
|
NM_001164508.2(NEB):c.23328C>G (p.Val7776=)
|
rs930436261
|
|
|
NM_001164508.2(NEB):c.23338T>A (p.Ser7780Thr)
|
rs1553614160
|
|
|
NM_001164508.2(NEB):c.23341A>G (p.Ser7781Gly)
|
rs745794892
|
|
|
NM_001164508.2(NEB):c.23341A>T (p.Ser7781Cys)
|
|
|
|
NM_001164508.2(NEB):c.23344C>T (p.Gln7782Ter)
|
rs2153272667
|
|
|
NM_001164508.2(NEB):c.23346+10T>C
|
rs2153272094
|
|
|
NM_001164508.2(NEB):c.23346+12C>T
|
|
|
|
NM_001164508.2(NEB):c.23346+12dup
|
|
|
|
NM_001164508.2(NEB):c.23346+1G>A
|
|
|
|
NM_001164508.2(NEB):c.23346+2T>G
|
|
|
|
NM_001164508.2(NEB):c.23346+2dup
|
rs2153272570
|
|
|
NM_001164508.2(NEB):c.23346+8C>T
|
|
|
|
NM_001164508.2(NEB):c.23346+9A>T
|
rs2153272170
|
|
|
NM_001164508.2(NEB):c.23347-12dup
|
|
|
|
NM_001164508.2(NEB):c.23347-2A>G
|
|
|
|
NM_001164508.2(NEB):c.23347-6T>A
|
|
|
|
NM_001164508.2(NEB):c.23350A>G (p.Lys7784Glu)
|
rs2070773602
|
|
|
NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs)
|
rs1559360386
|
|
|
NM_001164508.2(NEB):c.23352G>A (p.Lys7784=)
|
|
|
|
NM_001164508.2(NEB):c.23355C>T (p.Tyr7785=)
|
rs1575514028
|
|
|
NM_001164508.2(NEB):c.23363A>G (p.Asp7788Gly)
|
|
|
|
NM_001164508.2(NEB):c.23367T>C (p.Ala7789=)
|
rs775312412
|
|
|
NM_001164508.2(NEB):c.2336G>A (p.Gly779Asp)
|
|
|
|
NM_001164508.2(NEB):c.23378del (p.Met7793fs)
|
rs1553603690
|
|
|
NM_001164508.2(NEB):c.2337T>G (p.Gly779=)
|
|
|
|
NM_001164508.2(NEB):c.23382G>C (p.Ser7794=)
|
|
|
|
NM_001164508.2(NEB):c.23382G>T (p.Ser7794=)
|
rs770713773
|
|
|
NM_001164508.2(NEB):c.23385T>C (p.Tyr7795=)
|
|
|
|
NM_001164508.2(NEB):c.23385T>G (p.Tyr7795Ter)
|
rs2153218155
|
|
|
NM_001164508.2(NEB):c.23387del (p.Tyr7796fs)
|
|
|
|
NM_001164508.2(NEB):c.23388T>C (p.Tyr7796=)
|
|
|
|
NM_001164508.2(NEB):c.2338G>A (p.Glu780Lys)
|
|
|
|
NM_001164508.2(NEB):c.23405C>A (p.Thr7802Asn)
|
rs780379101
|
|
|
NM_001164508.2(NEB):c.23405C>T (p.Thr7802Ile)
|
rs780379101
|
|
|
NM_001164508.2(NEB):c.23410G>A (p.Glu7804Lys)
|
|
|
|
NM_001164508.2(NEB):c.23418G>A (p.Gln7806=)
|
|
|
|
NM_001164508.2(NEB):c.23424C>A (p.Val7808=)
|
rs2153217819
|
|
|
NM_001164508.2(NEB):c.23426G>A (p.Arg7809Gln)
|
|
|
|
NM_001164508.2(NEB):c.23430G>A (p.Glu7810=)
|
|
|
|
NM_001164508.2(NEB):c.23433C>A (p.Asn7811Lys)
|
|
|
|
NM_001164508.2(NEB):c.23433C>T (p.Asn7811=)
|
rs760128419
|
|
|
NM_001164508.2(NEB):c.23436A>G (p.Gln7812=)
|
|
|
|
NM_001164508.2(NEB):c.23445C>T (p.Phe7815=)
|
|
|
|
NM_001164508.2(NEB):c.23449dup (p.Leu7817fs)
|
|
|
|
NM_001164508.2(NEB):c.23451+10del
|
rs1338093963
|
|
|
NM_001164508.2(NEB):c.23451+12T>C
|
|
|
|
NM_001164508.2(NEB):c.23451+18G>A
|
|
|
|
NM_001164508.2(NEB):c.23451+1G>A
|
|
|
|
NM_001164508.2(NEB):c.23451+1G>C
|
rs1011425121
|
|
|
NM_001164508.2(NEB):c.23452-11T>A
|
|
|
|
NM_001164508.2(NEB):c.23452-12C>A
|
|
|
|
NM_001164508.2(NEB):c.23452-12C>T
|
|
|
|
NM_001164508.2(NEB):c.23452-13T>G
|
|
|
|
NM_001164508.2(NEB):c.23452-13TCTT[3]
|
|
|
|
NM_001164508.2(NEB):c.23452-17T>C
|
|
|
|
NM_001164508.2(NEB):c.23452-1G>C
|
|
|
|
NM_001164508.2(NEB):c.23452-20T>A
|
|
|
|
NM_001164508.2(NEB):c.23452-20T>C
|
|
|
|
NM_001164508.2(NEB):c.23461C>T (p.Gln7821Ter)
|
|
|
|
NM_001164508.2(NEB):c.23470C>A (p.Leu7824Ile)
|
|
|
|
NM_001164508.2(NEB):c.23476_23479dup (p.Ser7827fs)
|
|
|
|
NM_001164508.2(NEB):c.23480G>A (p.Ser7827Asn)
|
|
|
|
NM_001164508.2(NEB):c.23482A>G (p.Lys7828Glu)
|
|
|
|
NM_001164508.2(NEB):c.2348A>G (p.Lys783Arg)
|
rs2099519230
|
|
|
NM_001164508.2(NEB):c.23495_23496del (p.Thr7832fs)
|
|
|
|
NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs)
|
rs762780413
|
|
|
NM_001164508.2(NEB):c.23498_23499insA (p.Val7834fs)
|
|
|
|
NM_001164508.2(NEB):c.2349G>A (p.Lys783=)
|
|
|
|
NM_001164508.2(NEB):c.23500_23501del (p.Val7834fs)
|
|
|
|
NM_001164508.2(NEB):c.23505del (p.Asp7836fs)
|
rs2153196376
|
|
|
NM_001164508.2(NEB):c.23508C>T (p.Asp7836=)
|
rs2153196327
|
|
|
NM_001164508.2(NEB):c.23514A>G (p.Pro7838=)
|
rs1575473569
|
|
|
NM_001164508.2(NEB):c.23517A>G (p.Glu7839=)
|
|
|
|
NM_001164508.2(NEB):c.23521C>T (p.Leu7841=)
|
rs759103372
|
|
|
NM_001164508.2(NEB):c.23524C>A (p.Arg7842Ser)
|
rs184516994
|
|
|
NM_001164508.2(NEB):c.23529A>G (p.Val7843=)
|
|
|
|
NM_001164508.2(NEB):c.2352C>T (p.Cys784=)
|
|
|
|
NM_001164508.2(NEB):c.23539C>T (p.Gln7847Ter)
|
|
|
|
NM_001164508.2(NEB):c.2353C>A (p.His785Asn)
|
rs2099519209
|
|
|
NM_001164508.2(NEB):c.23556+12A>G
|
|
|
|
NM_001164508.2(NEB):c.23556+13T>C
|
|
|
|
NM_001164508.2(NEB):c.23556+15T>C
|
|
|
|
NM_001164508.2(NEB):c.23556+16_23556+19del
|
|
|
|
NM_001164508.2(NEB):c.23556+18T>A
|
|
|
|
NM_001164508.2(NEB):c.23556+19_23556+20insTATAGTATATTTACTAGG
|
|
|
|
NM_001164508.2(NEB):c.23556+1G>T
|
rs2153195911
|
|
|
NM_001164508.2(NEB):c.23556+2T>A
|
|
|
|
NM_001164508.2(NEB):c.23556G>A (p.Ser7852=)
|
|
|
|
NM_001164508.2(NEB):c.23557-12C>T
|
|
|
|
NM_001164508.2(NEB):c.23557-15A>G
|
|
|
|
NM_001164508.2(NEB):c.23557-16G>A
|
|
|
|
NM_001164508.2(NEB):c.23557-16_23557-13dup
|
|
|
|
NM_001164508.2(NEB):c.23557-4C>A
|
|
|
|
NM_001164508.2(NEB):c.23557-5C>T
|
|
|
|
NM_001164508.2(NEB):c.23557-6G>A
|
|
|
|
NM_001164508.2(NEB):c.23565T>C (p.Tyr7855=)
|
rs752269554
|
|
|
NM_001164508.2(NEB):c.23576T>A (p.Val7859Asp)
|
|
|
|
NM_001164508.2(NEB):c.23577C>T (p.Val7859=)
|
|
|
|
NM_001164508.2(NEB):c.23588C>T (p.Thr7863Met)
|
|
|
|
NM_001164508.2(NEB):c.2358A>G (p.Ile786Met)
|
|
|
|
NM_001164508.2(NEB):c.23592T>C (p.Ala7864=)
|
|
|
|
NM_001164508.2(NEB):c.23595C>A (p.Ile7865=)
|
rs370825760
|
|
|
NM_001164508.2(NEB):c.23607T>C (p.Pro7869=)
|
|
|
|
NM_001164508.2(NEB):c.23609A>T (p.Glu7870Val)
|
rs1454960791
|
|
|
NM_001164508.2(NEB):c.2361A>C (p.Pro787=)
|
|
|
|
NM_001164508.2(NEB):c.23622G>A (p.Val7874=)
|
rs2153187102
|
|
|
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter)
|
rs537560378
|
|
|
NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs)
|
rs1161478770
|
|
|
NM_001164508.2(NEB):c.23637C>T (p.Asp7879=)
|
rs374029795
|
|
|
NM_001164508.2(NEB):c.23643T>C (p.Ile7881=)
|
|
|
|
NM_001164508.2(NEB):c.23647T>C (p.Ser7883Pro)
|
|
|
|
NM_001164508.2(NEB):c.23648C>G (p.Ser7883Trp)
|
rs202191938
|
|
|
NM_001164508.2(NEB):c.23649+10_23649+11del
|
rs772001300
|
|
|
NM_001164508.2(NEB):c.23649+12G>C
|
|
|
|
NM_001164508.2(NEB):c.23649+18G>A
|
|
|
|
NM_001164508.2(NEB):c.23649+19C>G
|
|
|
|
NM_001164508.2(NEB):c.23649+9A>C
|
rs2153186603
|
|
|
NM_001164508.2(NEB):c.23650-10A>C
|
rs2153172348
|
|
|
NM_001164508.2(NEB):c.23650-15T>C
|
|
|
|
NM_001164508.2(NEB):c.23650-16A>C
|
|
|
|
NM_001164508.2(NEB):c.23650-1G>A
|
rs2153172016
|
|
|
NM_001164508.2(NEB):c.23650-21_23650-20dup
|
|
|
|
NM_001164508.2(NEB):c.23650-2A>T
|
|
|
|
NM_001164508.2(NEB):c.23650-7T>C
|
rs771206029
|
|
|
NM_001164508.2(NEB):c.23650-7_23650-6delinsAT
|
rs1575422447
|
|
|
NM_001164508.2(NEB):c.23652G>A (p.Val7884=)
|
|
|
|
NM_001164508.2(NEB):c.23652G>C (p.Val7884=)
|
|
|
|
NM_001164508.2(NEB):c.23658T>C (p.Tyr7886=)
|
rs2153171876
|
|
|
NM_001164508.2(NEB):c.23660del (p.Lys7887fs)
|
|
|
|
NM_001164508.2(NEB):c.23662G>A (p.Glu7888Lys)
|
|
|
|
NM_001164508.2(NEB):c.23667A>C (p.Ala7889=)
|
rs2153171655
|
|
|
NM_001164508.2(NEB):c.23667A>G (p.Ala7889=)
|
rs2153171655
|
|
|
NM_001164508.2(NEB):c.23669T>C (p.Ile7890Thr)
|
|
|
|
NM_001164508.2(NEB):c.23682T>G (p.Thr7894=)
|
|
|
|
NM_001164508.2(NEB):c.2368_2370dup (p.Ala790dup)
|
rs2148990366
|
|
|
NM_001164508.2(NEB):c.23691T>G (p.Pro7897=)
|
|
|
|
NM_001164508.2(NEB):c.23695C>T (p.Leu7899=)
|
rs1403586555
|
|
|
NM_001164508.2(NEB):c.23705T>C (p.Val7902Ala)
|
|
|
|
NM_001164508.2(NEB):c.23709A>G (p.Lys7903=)
|
rs2153171101
|
|
|
NM_001164508.2(NEB):c.2370T>C (p.Ala790=)
|
|
|
|
NM_001164508.2(NEB):c.23711G>A (p.Arg7904His)
|
|
|
|
NM_001164508.2(NEB):c.23711del (p.Arg7904fs)
|
|
|
|
NM_001164508.2(NEB):c.23712T>C (p.Arg7904=)
|
|
|
|
NM_001164508.2(NEB):c.23713G>A (p.Val7905Met)
|
|
|
|
NM_001164508.2(NEB):c.23715G>A (p.Val7905=)
|
|
|
|
NM_001164508.2(NEB):c.23721G>A (p.Glu7907=)
|
rs1575420606
|
|
|
NM_001164508.2(NEB):c.23723C>T (p.Thr7908Met)
|
|
|
|
NM_001164508.2(NEB):c.23731C>A (p.His7911Asn)
|
|
|
|
NM_001164508.2(NEB):c.23733C>T (p.His7911=)
|
|
|
|
NM_001164508.2(NEB):c.23739C>T (p.Ser7913=)
|
|
|
|
NM_001164508.2(NEB):c.23741C>T (p.Ser7914Leu)
|
|
|
|
NM_001164508.2(NEB):c.23742+10A>G
|
rs2153170023
|
|
|
NM_001164508.2(NEB):c.23742+15C>T
|
|
|
|
NM_001164508.2(NEB):c.23742+16T>G
|
|
|
|
NM_001164508.2(NEB):c.23742+8C>G
|
rs1575419282
|
|
|
NM_001164508.2(NEB):c.23742+8C>T
|
rs1575419282
|
|
|
NM_001164508.2(NEB):c.23742+9_23742+17del
|
|
|
|
NM_001164508.2(NEB):c.23742G>A (p.Ser7914=)
|
|
|
|
NM_001164508.2(NEB):c.23743-14_23743-11dup
|
|
|
|
NM_001164508.2(NEB):c.23743-16T>C
|
|
|
|
NM_001164508.2(NEB):c.23743-1G>C
|
rs797045098
|
|
|
NM_001164508.2(NEB):c.23743-4A>G
|
|
|
|
NM_001164508.2(NEB):c.23743-8_23743-7dup
|
|
|
|
NM_001164508.2(NEB):c.23743G>A (p.Val7915Ile)
|
rs767404419
|
|
|
NM_001164508.2(NEB):c.23746_23747dup (p.Met7916fs)
|
rs2153115303
|
|
|
NM_001164508.2(NEB):c.23752A>G (p.Lys7918Glu)
|
rs758478063
|
|
|
NM_001164508.2(NEB):c.23754_23759dup (p.Lys7918_Glu7919dup)
|
rs778176240
|
|
|
NM_001164508.2(NEB):c.23761T>C (p.Leu7921=)
|
|
|
|
NM_001164508.2(NEB):c.23765G>A (p.Gly7922Glu)
|
|
|
|
NM_001164508.2(NEB):c.2376G>A (p.Gln792=)
|
|
|
|
NM_001164508.2(NEB):c.23773A>G (p.Ile7925Val)
|
rs1322894219
|
|
|
NM_001164508.2(NEB):c.23781C>T (p.Thr7927=)
|
rs924084939
|
|
|
NM_001164508.2(NEB):c.23784T>C (p.Thr7928=)
|
rs1334542380
|
|
|
NM_001164508.2(NEB):c.23786_23787del (p.Val7929fs)
|
|
|
|
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs)
|
rs756612643
|
|
|
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr)
|
rs140967744
|
|
|
NM_001164508.2(NEB):c.23802G>C (p.Glu7934Asp)
|
|
|
|
NM_001164508.2(NEB):c.23803_23806del (p.Arg7935fs)
|
|
|
|
NM_001164508.2(NEB):c.23805_23806del (p.Arg7935fs)
|
rs753192734
|
|
|
NM_001164508.2(NEB):c.23827T>C (p.Phe7943Leu)
|
|
|
|
NM_001164508.2(NEB):c.23829T>C (p.Phe7943=)
|
rs1575331983
|
|
|
NM_001164508.2(NEB):c.23834C>T (p.Ser7945Leu)
|
|
|
|
NM_001164508.2(NEB):c.23835+11A>G
|
|
|
|
NM_001164508.2(NEB):c.23835+14T>C
|
|
|
|
NM_001164508.2(NEB):c.23835+17C>T
|
|
|
|
NM_001164508.2(NEB):c.23835+2T>C
|
|
|
|
NM_001164508.2(NEB):c.23835G>A (p.Ser7945=)
|
|
|
|
NM_001164508.2(NEB):c.23836-10T>C
|
rs76591052
|
|
|
NM_001164508.2(NEB):c.23836-11G>T
|
|
|
|
NM_001164508.2(NEB):c.23836-14C>T
|
|
|
|
NM_001164508.2(NEB):c.23836-15T>C
|
|
|
|
NM_001164508.2(NEB):c.23836-19A>G
|
|
|
|
NM_001164508.2(NEB):c.23836-19A>T
|
|
|
|
NM_001164508.2(NEB):c.23836-1G>A
|
|
|
|
NM_001164508.2(NEB):c.23836-2A>G
|
rs2153104173
|
|
|
NM_001164508.2(NEB):c.23836-5C>G
|
rs1559296915
|
|
|
NM_001164508.2(NEB):c.23836-9_23836-6dup
|
rs773113491
|
|
|
NM_001164508.2(NEB):c.23847A>G (p.Lys7949=)
|
|
|
|
NM_001164508.2(NEB):c.23848_23851dup (p.Asn7951fs)
|
rs1559296376
|
|
|
NM_001164508.2(NEB):c.2384A>G (p.Gln795Arg)
|
|
|
|
NM_001164508.2(NEB):c.23856G>C (p.Leu7952Phe)
|
|
|
|
NM_001164508.2(NEB):c.23859G>A (p.Gly7953=)
|
|
|
|
NM_001164508.2(NEB):c.23862A>G (p.Lys7954=)
|
rs753799779
|
|
|
NM_001164508.2(NEB):c.23867T>C (p.Ile7956Thr)
|
rs933996254
|
|
|
NM_001164508.2(NEB):c.23869_23870delinsTA (p.Pro7957Ter)
|
|
|
|
NM_001164508.2(NEB):c.23871A>G (p.Pro7957=)
|
rs922619160
|
|
|
NM_001164508.2(NEB):c.23872A>C (p.Thr7958Pro)
|
|
|
|
NM_001164508.2(NEB):c.23878_23881dup (p.Thr7961fs)
|
|
|
|
NM_001164508.2(NEB):c.23886A>G (p.Pro7962=)
|
|
|
|
NM_001164508.2(NEB):c.23889G>A (p.Glu7963=)
|
rs975397268
|
|
|
NM_001164508.2(NEB):c.23889G>C (p.Glu7963Asp)
|
rs975397268
|
|
|
NM_001164508.2(NEB):c.23889G>T (p.Glu7963Asp)
|
|
|
|
NM_001164508.2(NEB):c.2388C>T (p.His796=)
|
rs2148989447
|
|
|
NM_001164508.2(NEB):c.23895G>A (p.Glu7965=)
|
rs1229640938
|
|
|
NM_001164508.2(NEB):c.23896_23899del (p.Arg7966fs)
|
rs2153102752
|
|
|
NM_001164508.2(NEB):c.23898A>G (p.Arg7966=)
|
rs2153102784
|
|
|
NM_001164508.2(NEB):c.2390G>T (p.Arg797Ile)
|
|
|
|
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs)
|
rs761694639
|
|
|
NM_001164508.2(NEB):c.23916G>A (p.Glu7972=)
|
|
|
|
NM_001164508.2(NEB):c.23916G>C (p.Glu7972Asp)
|
|
|
|
NM_001164508.2(NEB):c.2391A>G (p.Arg797=)
|
rs1031672649
|
|
|
NM_001164508.2(NEB):c.23926T>A (p.Ser7976Thr)
|
rs2065743787
|
|
|
NM_001164508.2(NEB):c.23928+15G>T
|
|
|
|
NM_001164508.2(NEB):c.23928+18A>G
|
|
|
|
NM_001164508.2(NEB):c.23928+6_23928+9dup
|
rs776388006
|
|
|
NM_001164508.2(NEB):c.23928+8T>C
|
|
|
|
NM_001164508.2(NEB):c.23929-12_23929-11del
|
|
|
|
NM_001164508.2(NEB):c.23929-1G>C
|
rs2153074006
|
|
|
NM_001164508.2(NEB):c.23929-20_23929-17del
|
|
|
|
NM_001164508.2(NEB):c.23929-2A>C
|
rs1553569122
|
|
|
NM_001164508.2(NEB):c.23929-8G>A
|
rs1329790084
|
|
|
NM_001164508.2(NEB):c.23937C>A (p.Tyr7979Ter)
|
|
|
|
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter)
|
rs779173742
|
|
|
NM_001164508.2(NEB):c.23939_23942dup (p.Asn7982fs)
|
rs2153073575
|
|
|
NM_001164508.2(NEB):c.23949G>C (p.Leu7983Phe)
|
rs2153073370
|
|
|
NM_001164508.2(NEB):c.23953A>G (p.Lys7985Glu)
|
|
|
|
NM_001164508.2(NEB):c.23955G>C (p.Lys7985Asn)
|
rs1189932875
|
|
|
NM_001164508.2(NEB):c.23957G>C (p.Gly7986Ala)
|
rs2064473141
|
|
|
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)
|
rs756384471
|
|
|
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs)
|
rs2064466448
|
|
|
NM_001164508.2(NEB):c.23971_23974dup (p.Thr7992fs)
|
|
|
|
NM_001164508.2(NEB):c.23984T>A (p.Met7995Lys)
|
|
|
|
NM_001164508.2(NEB):c.23984T>C (p.Met7995Thr)
|
rs1064796521
|
|
|
NM_001164508.2(NEB):c.23990G>A (p.Arg7997Gln)
|
|
|
|
NM_001164508.2(NEB):c.23992G>A (p.Val7998Ile)
|
|
|
|
NM_001164508.2(NEB):c.23998_24001del (p.Leu8000fs)
|
rs748550315
|
|
|
NM_001164508.2(NEB):c.23998_24001dup (p.Asn8001fs)
|
rs748550315
|
|
|
NM_001164508.2(NEB):c.23998_24002dup (p.Gln8002fs)
|
rs2064439011
|
|
|
NM_001164508.2(NEB):c.24003_24006dup (p.Glu8003fs)
|
rs1553568447
|
|
|
NM_001164508.2(NEB):c.24004C>T (p.Gln8002Ter)
|
rs2153072192
|
|
|
NM_001164508.2(NEB):c.24012C>T (p.Asn8004=)
|
rs2153071991
|
|
|
NM_001164508.2(NEB):c.24014T>G (p.Phe8005Cys)
|
|
|
|
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs)
|
rs1553568357
|
|
|
NM_001164508.2(NEB):c.24015T>C (p.Phe8005=)
|
rs2153071781
|
|
|
NM_001164508.2(NEB):c.24016A>G (p.Ser8006Gly)
|
|
|
|
NM_001164508.2(NEB):c.24018C>T (p.Ser8006=)
|
rs2153071679
|
|
|
NM_001164508.2(NEB):c.24020C>A (p.Ser8007Ter)
|
|
|
|
NM_001164508.2(NEB):c.24021+12A>C
|
|
|
|
NM_001164508.2(NEB):c.24021+12A>G
|
|
|
|
NM_001164508.2(NEB):c.24021+14A>C
|
|
|
|
NM_001164508.2(NEB):c.24021+15G>A
|
|
|
|
NM_001164508.2(NEB):c.24022-10T>G
|
|
|
|
NM_001164508.2(NEB):c.24022-11G>T
|
|
|
|
NM_001164508.2(NEB):c.24022-19G>A
|
|
|
|
NM_001164508.2(NEB):c.24022-1G>A
|
rs1553561697
|
|
|
NM_001164508.2(NEB):c.24022-9_24022-8del
|
|
|
|
NM_001164508.2(NEB):c.24024G>A (p.Val8008=)
|
rs2062732152
|
|
|
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs)
|
rs772009599
|
|
|
NM_001164508.2(NEB):c.24025T>C (p.Leu8009=)
|
|
|
|
NM_001164508.2(NEB):c.24027G>A (p.Leu8009=)
|
rs2153022914
|
|
|
NM_001164508.2(NEB):c.24028T>C (p.Tyr8010His)
|
rs555681348
|
|
|
NM_001164508.2(NEB):c.24029A>G (p.Tyr8010Cys)
|
|
|
|
NM_001164508.2(NEB):c.2402A>G (p.Tyr801Cys)
|
|
|
|
NM_001164508.2(NEB):c.24033A>G (p.Lys8011=)
|
|
|
|
NM_001164508.2(NEB):c.24034G>C (p.Glu8012Gln)
|
|
|
|
NM_001164508.2(NEB):c.24038del (p.Asn8013fs)
|
|
|
|
NM_001164508.2(NEB):c.24045A>C (p.Gly8015=)
|
|
|
|
NM_001164508.2(NEB):c.24046A>T (p.Lys8016Ter)
|
|
|
|
NM_001164508.2(NEB):c.24048A>G (p.Lys8016=)
|
rs2153022018
|
|
|
NM_001164508.2(NEB):c.24060C>T (p.Ile8020=)
|
rs2062699853
|
|
|
NM_001164508.2(NEB):c.24063C>T (p.Pro8021=)
|
|
|
|
NM_001164508.2(NEB):c.24066C>T (p.Ile8022=)
|
|
|
|
NM_001164508.2(NEB):c.24067A>G (p.Thr8023Ala)
|
rs1323764871
|
|
|
NM_001164508.2(NEB):c.24071C>G (p.Pro8024Arg)
|
rs2153021543
|
|
|
NM_001164508.2(NEB):c.24072dup (p.Glu8025fs)
|
|
|
|
NM_001164508.2(NEB):c.24075G>A (p.Glu8025=)
|
|
|
|
NM_001164508.2(NEB):c.24077_24084del (p.Met8026fs)
|
rs2153021199
|
|
|
NM_001164508.2(NEB):c.24078G>A (p.Met8026Ile)
|
|
|
|
NM_001164508.2(NEB):c.2407C>T (p.Leu803=)
|
rs2148988737
|
|
|
NM_001164508.2(NEB):c.24082A>C (p.Arg8028=)
|
|
|
|
NM_001164508.2(NEB):c.24082A>G (p.Arg8028Gly)
|
rs2062685891
|
|
|
NM_001164508.2(NEB):c.24084_24085del (p.Arg8028fs)
|
|
|
|
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs)
|
rs2153020985
|
|
|
NM_001164508.2(NEB):c.24093C>T (p.His8031=)
|
|
|
|
NM_001164508.2(NEB):c.24095A>G (p.Asn8032Ser)
|
rs946188918
|
|
|
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs)
|
rs1553561211
|
|
|
NM_001164508.2(NEB):c.24106T>C (p.Phe8036Leu)
|
|
|
|
NM_001164508.2(NEB):c.24107T>G (p.Phe8036Cys)
|
|
|
|
NM_001164508.2(NEB):c.24111T>C (p.Ser8037=)
|
rs2153020511
|
|
|
NM_001164508.2(NEB):c.24113C>T (p.Ser8038Leu)
|
rs1458048713
|
|
|
NM_001164508.2(NEB):c.24114+11dup
|
|
|
|
NM_001164508.2(NEB):c.24114+12T>A
|
|
|
|
NM_001164508.2(NEB):c.24114+12_24114+17del
|
|
|
|
NM_001164508.2(NEB):c.24114+17A>T
|
|
|
|
NM_001164508.2(NEB):c.24114+18A>T
|
|
|
|
NM_001164508.2(NEB):c.24114+18dup
|
|
|
|
NM_001164508.2(NEB):c.24114+1G>C
|
|
|
|
NM_001164508.2(NEB):c.24114+20C>T
|
|
|
|
NM_001164508.2(NEB):c.24114+4_24114+7dup
|
rs1427403460
|
|
|
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=)
|
rs781581005
|
|
|
NM_001164508.2(NEB):c.24114G>T (p.Ser8038=)
|
rs781581005
|
|
|
NM_001164508.2(NEB):c.24115-16C>T
|
|
|
|
NM_001164508.2(NEB):c.24115-1G>A
|
|
|
|
NM_001164508.2(NEB):c.24115-2A>G
|
rs2152992966
|
|
|
NM_001164508.2(NEB):c.24130_24131insGC (p.Asn8044fs)
|
|
|
|
NM_001164508.2(NEB):c.24132C>T (p.Asn8044=)
|
rs1449906853
|
|
|
NM_001164508.2(NEB):c.24134T>G (p.Leu8045Arg)
|
|
|
|
NM_001164508.2(NEB):c.24136G>A (p.Gly8046Arg)
|
|
|
|
NM_001164508.2(NEB):c.24138G>A (p.Gly8046=)
|
|
|
|
NM_001164508.2(NEB):c.24141A>C (p.Thr8047=)
|
rs2152992611
|
|
|
NM_001164508.2(NEB):c.24143del (p.Gly8048fs)
|
rs1553556154
|
|
|
NM_001164508.2(NEB):c.24144A>G (p.Gly8048=)
|
|
|
|
NM_001164508.2(NEB):c.2415+15C>T
|
|
|
|
NM_001164508.2(NEB):c.2415+18A>G
|
|
|
|
NM_001164508.2(NEB):c.2415+1G>A
|
rs1057524581
|
|
|
NM_001164508.2(NEB):c.2415+20A>T
|
|
|
|
NM_001164508.2(NEB):c.2415+6T>C
|
rs760614044
|
|
|
NM_001164508.2(NEB):c.2415+8C>T
|
|
|
|
NM_001164508.2(NEB):c.24157A>G (p.Ile8053Val)
|
|
|
|
NM_001164508.2(NEB):c.24158T>C (p.Ile8053Thr)
|
rs2061739053
|
|
|
NM_001164508.2(NEB):c.2416-15A>T
|
rs753394142
|
|
|
NM_001164508.2(NEB):c.2416-7T>C
|
rs2148960853
|
|
|
NM_001164508.2(NEB):c.2416-8T>C
|
rs2148960985
|
|
|
NM_001164508.2(NEB):c.2416-9C>A
|
|
|
|
NM_001164508.2(NEB):c.24173A>G (p.Gln8058Arg)
|
|
|
|
NM_001164508.2(NEB):c.24175A>G (p.Arg8059Gly)
|
|
|
|
NM_001164508.2(NEB):c.24175_24178dup (p.Val8060fs)
|
rs1266535163
|
|
|
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs)
|
rs2061721973
|
|
|
NM_001164508.2(NEB):c.24177A>G (p.Arg8059=)
|
rs1030563077
|
|
|
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)
|
rs1266535163
|
|
|
NM_001164508.2(NEB):c.24180C>T (p.Val8060=)
|
rs2152991734
|
|
|
NM_001164508.2(NEB):c.24182_24185dup (p.His8062fs)
|
rs2152991690
|
|
|
NM_001164508.2(NEB):c.24186C>T (p.His8062=)
|
|
|
|
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)
|
rs1553555882
|
|
|
NM_001164508.2(NEB):c.24192A>G (p.Gln8064=)
|
|
|
|
NM_001164508.2(NEB):c.24201T>C (p.Leu8067=)
|
rs2152991428
|
|
|
NM_001164508.2(NEB):c.24206C>T (p.Ser8069Leu)
|
|
|
|
NM_001164508.2(NEB):c.24207+12_24207+16dup
|
rs1559228786
|
|
|
NM_001164508.2(NEB):c.24207+13G>C
|
|
|
|
NM_001164508.2(NEB):c.24207+13G>T
|
|
|
|
NM_001164508.2(NEB):c.24207+15_24207+16del
|
|
|
|
NM_001164508.2(NEB):c.24207+16A>C
|
|
|
|
NM_001164508.2(NEB):c.24207+17G>A
|
|
|
|
NM_001164508.2(NEB):c.24207+3_24207+6dup
|
|
|
|
NM_001164508.2(NEB):c.24207+7T>G
|
rs2152990979
|
|
|
NM_001164508.2(NEB):c.24207+8G>C
|
rs756766749
|
|
|
NM_001164508.2(NEB):c.24208-12C>T
|
|
|
|
NM_001164508.2(NEB):c.24208-15T>C
|
|
|
|
NM_001164508.2(NEB):c.24208-20G>A
|
|
|
|
NM_001164508.2(NEB):c.24208-4A>G
|
|
|
|
NM_001164508.2(NEB):c.24208-6G>A
|
|
|
|
NM_001164508.2(NEB):c.24208-7C>A
|
rs113048349
|
|
|
NM_001164508.2(NEB):c.24208-7_24208-6insTAA
|
|
|
|
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)
|
rs781667543
|
|
|
NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup)
|
rs781667543
|
|
|
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs)
|
rs1553552384
|
|
|
NM_001164508.2(NEB):c.24225C>T (p.Asn8075=)
|
rs2152974722
|
|
|
NM_001164508.2(NEB):c.24240C>G (p.Thr8080=)
|
|
|
|
NM_001164508.2(NEB):c.24243T>C (p.Pro8081=)
|
|
|
|
NM_001164508.2(NEB):c.24243T>G (p.Pro8081=)
|
rs2152974067
|
|
|
NM_001164508.2(NEB):c.24244T>C (p.Leu8082=)
|
rs1449585285
|
|
|
NM_001164508.2(NEB):c.24245T>A (p.Leu8082Ter)
|
rs1559218052
|
|
|
NM_001164508.2(NEB):c.24249T>C (p.Pro8083=)
|
|
|
|
NM_001164508.2(NEB):c.2424T>C (p.Tyr808=)
|
|
|
|
NM_001164508.2(NEB):c.2425A>T (p.Lys809Ter)
|
|
|
|
NM_001164508.2(NEB):c.24262_24264dup (p.Met8088dup)
|
rs769252768
|
|
|
NM_001164508.2(NEB):c.24267A>G (p.Glu8089=)
|
|
|
|
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs)
|
rs747564597
|
|
|
NM_001164508.2(NEB):c.24271_24274dup (p.Lys8092fs)
|
rs1559217202
|
|
|
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs)
|
rs1553551748
|
|
|
NM_001164508.2(NEB):c.2427G>A (p.Lys809=)
|
rs1415817931
|
|
|
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
|
|
|
|
NM_001164508.2(NEB):c.24286del (p.Glu8096fs)
|
|
|
|
NM_001164508.2(NEB):c.2428C>T (p.Gln810Ter)
|
|
|
|
NM_001164508.2(NEB):c.24291T>C (p.Asn8097=)
|
rs2152973027
|
|
|
NM_001164508.2(NEB):c.24291_24294dup (p.Ser8099delinsTyrTer)
|
rs2061157682
|
|
|
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup)
|
rs780724946
|
|
|
NM_001164508.2(NEB):c.24294T>C (p.Ile8098=)
|
rs910622324
|
|
|
NM_001164508.2(NEB):c.24297C>T (p.Ser8099=)
|
|
|
|
NM_001164508.2(NEB):c.24297_24300+1del
|
|
|
|
NM_001164508.2(NEB):c.24300+15A>T
|
rs986148550
|
|
|
NM_001164508.2(NEB):c.24300+18G>C
|
|
|
|
NM_001164508.2(NEB):c.24300+18_24300+20del
|
|
|
|
NM_001164508.2(NEB):c.24300+6_24300+7dup
|
rs1575019629
|
|
|
NM_001164508.2(NEB):c.24300+7T>C
|
rs2152972231
|
|
|
NM_001164508.2(NEB):c.24300+7T>G
|
|
|
|
NM_001164508.2(NEB):c.24300+8G>C
|
|
|
|
NM_001164508.2(NEB):c.24300G>C (p.Ser8100=)
|
rs541126160
|
|
|
NM_001164508.2(NEB):c.24301-10T>A
|
|
|
|
NM_001164508.2(NEB):c.24301-10T>C
|
|
|
|
NM_001164508.2(NEB):c.24301-19T>A
|
rs940899832
|
|
|
NM_001164508.2(NEB):c.24301-1G>T
|
|
|
|
NM_001164508.2(NEB):c.24301-5C>T
|
|
|
|
NM_001164508.2(NEB):c.24301-6G>A
|
rs1276441858
|
|
|
NM_001164508.2(NEB):c.24301-6G>T
|
|
|
|
NM_001164508.2(NEB):c.24301-7C>G
|
rs755582434
|
|
|
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)
|
rs1344099907
|
|
|
NM_001164508.2(NEB):c.24303G>A (p.Val8101=)
|
rs1047052144
|
|
|
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup)
|
rs1344099907
|
|
|
NM_001164508.2(NEB):c.24304T>C (p.Leu8102=)
|
|
|
|
NM_001164508.2(NEB):c.2430A>G (p.Gln810=)
|
|
|
|
NM_001164508.2(NEB):c.24327G>A (p.Lys8109=)
|
rs1574981537
|
|
|
NM_001164508.2(NEB):c.24329_24332dup (p.Pro8112fs)
|
rs1574981296
|
|
|
NM_001164508.2(NEB):c.2432A>T (p.Asp811Val)
|
rs896028175
|
|
|
NM_001164508.2(NEB):c.24335_24338dup (p.Pro8114fs)
|
|
|
|
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)
|
rs934111355
|
|
|
NM_001164508.2(NEB):c.24342T>C (p.Pro8114=)
|
rs2060652221
|
|
|
NM_001164508.2(NEB):c.24350C>G (p.Pro8117Arg)
|
|
|
|
NM_001164508.2(NEB):c.24351T>A (p.Pro8117=)
|
|
|
|
NM_001164508.2(NEB):c.24354G>A (p.Glu8118=)
|
|
|
|
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
|
|
|
|
NM_001164508.2(NEB):c.24361A>C (p.Arg8121=)
|
|
|
|
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs)
|
rs752582527
|
|
|
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs)
|
rs1553548207
|
|
|
NM_001164508.2(NEB):c.24375T>C (p.Asn8125=)
|
|
|
|
NM_001164508.2(NEB):c.24376C>T (p.Gln8126Ter)
|
|
|
|
NM_001164508.2(NEB):c.24376_24377insCC (p.Gln8126fs)
|
rs2152954992
|
|
|
NM_001164508.2(NEB):c.24387T>C (p.Ile8129=)
|
|
|
|
NM_001164508.2(NEB):c.24393+10C>G
|
rs1306898539
|
|
|
NM_001164508.2(NEB):c.24393+14A>G
|
|
|
|
NM_001164508.2(NEB):c.24393+7G>T
|
rs1574976591
|
|
|
NM_001164508.2(NEB):c.24393+9G>A
|
|
|
|
NM_001164508.2(NEB):c.24393+9del
|
rs2152954437
|
|
|
NM_001164508.2(NEB):c.24394-15T>C
|
|
|
|
NM_001164508.2(NEB):c.24394-17G>A
|
|
|
|
NM_001164508.2(NEB):c.24394-1G>A
|
rs1421095081
|
|
|
NM_001164508.2(NEB):c.24394-1G>C
|
|
|
|
NM_001164508.2(NEB):c.24394-20G>A
|
|
|
|
NM_001164508.2(NEB):c.24394-6G>T
|
rs1160511236
|
|
|
NM_001164508.2(NEB):c.24394G>C (p.Val8132Leu)
|
|
|
|
NM_001164508.2(NEB):c.24397_24398dup (p.Leu8133fs)
|
rs1553545126
|
|
|
NM_001164508.2(NEB):c.24426T>C (p.Thr8142=)
|
rs1049256350
|
|
|
NM_001164508.2(NEB):c.24429T>C (p.Pro8143=)
|
|
|
|
NM_001164508.2(NEB):c.24430T>C (p.Leu8144=)
|
rs2060153338
|
|
|
NM_001164508.2(NEB):c.24433G>A (p.Ala8145Thr)
|
|
|
|
NM_001164508.2(NEB):c.24444C>G (p.Pro8148=)
|
rs767654655
|
|
|
NM_001164508.2(NEB):c.24444C>T (p.Pro8148=)
|
rs767654655
|
|
|
NM_001164508.2(NEB):c.24447G>A (p.Glu8149=)
|
|
|
|
NM_001164508.2(NEB):c.24451G>A (p.Glu8151Lys)
|
rs1385464726
|
|
|
NM_001164508.2(NEB):c.24453_24454delinsAA (p.Glu8151_Arg8152=)
|
rs1574938607
|
|
|
NM_001164508.2(NEB):c.24454C>G (p.Arg8152Gly)
|
rs763364977
|
|
|
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)
|
rs763364977
|
|
|
NM_001164508.2(NEB):c.24461_24464dup (p.His8155fs)
|
rs2152937269
|
|
|
NM_001164508.2(NEB):c.24469C>T (p.Gln8157Ter)
|
|
|
|
NM_001164508.2(NEB):c.24480T>C (p.Ile8160=)
|
rs746456810
|
|
|
NM_001164508.2(NEB):c.24486+10G>A
|
rs755064162
|
|
|
NM_001164508.2(NEB):c.24486+17G>C
|
rs2060106681
|
|
|
NM_001164508.2(NEB):c.24486+19A>G
|
|
|
|
NM_001164508.2(NEB):c.24486+7G>T
|
|
|
|
NM_001164508.2(NEB):c.24486+9C>A
|
rs763870394
|
|
|
NM_001164508.2(NEB):c.24487-16C>A
|
|
|
|
NM_001164508.2(NEB):c.24487-17C>T
|
|
|
|
NM_001164508.2(NEB):c.24487-1G>A
|
|
|
|
NM_001164508.2(NEB):c.24487-20G>T
|
|
|
|
NM_001164508.2(NEB):c.24487-26_24487-19del
|
|
|
|
NM_001164508.2(NEB):c.24487-27_24487-20del
|
|
|
|
NM_001164508.2(NEB):c.24487-2A>G
|
|
|
|
NM_001164508.2(NEB):c.24487-35CTTTTTGG[3]
|
|
|
|
NM_001164508.2(NEB):c.24487-6_24491del
|
|
|
|
NM_001164508.2(NEB):c.24487-7C>T
|
rs2152877064
|
|
|
NM_001164508.2(NEB):c.24492G>A (p.Leu8164=)
|
|
|
|
NM_001164508.2(NEB):c.24495C>T (p.Tyr8165=)
|
|
|
|
NM_001164508.2(NEB):c.24503dup (p.Asn8168fs)
|
rs2152876577
|
|
|
NM_001164508.2(NEB):c.24504T>C (p.Asn8168=)
|
rs2152876508
|
|
|
NM_001164508.2(NEB):c.24508G>A (p.Gly8170Arg)
|
rs1553537770
|
|
|
NM_001164508.2(NEB):c.24508G>C (p.Gly8170Arg)
|
rs1553537770
|
|
|
NM_001164508.2(NEB):c.24510dup (p.Lys8171fs)
|
|
|
|
NM_001164508.2(NEB):c.24517_24518dup (p.Ala8174fs)
|
rs2152876293
|
|
|
NM_001164508.2(NEB):c.24518C>T (p.Thr8173Ile)
|
|
|
|
NM_001164508.2(NEB):c.24519C>A (p.Thr8173=)
|
rs748978197
|
|
|
NM_001164508.2(NEB):c.24519C>T (p.Thr8173=)
|
rs748978197
|
|
|
NM_001164508.2(NEB):c.2451C>T (p.Ala817=)
|
rs2099513754
|
|
|
NM_001164508.2(NEB):c.24522A>G (p.Ala8174=)
|
rs1574795954
|
|
|
NM_001164508.2(NEB):c.24531C>A (p.Val8177=)
|
rs2152875794
|
|
|
NM_001164508.2(NEB):c.24536C>T (p.Pro8179Leu)
|
|
|
|
NM_001164508.2(NEB):c.24540G>A (p.Glu8180=)
|
|
|
|
NM_001164508.2(NEB):c.24546G>A (p.Gln8182=)
|
rs1158236657
|
|
|
NM_001164508.2(NEB):c.24546del (p.Arg8183fs)
|
|
|
|
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs)
|
rs755863625
|
|
|
NM_001164508.2(NEB):c.24552C>G (p.Val8184=)
|
rs750690826
|
|
|
NM_001164508.2(NEB):c.24552C>T (p.Val8184=)
|
rs750690826
|
|
|
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs)
|
rs1553537512
|
|
|
NM_001164508.2(NEB):c.24561T>A (p.Asn8187Lys)
|
|
|
|
NM_001164508.2(NEB):c.24561T>C (p.Asn8187=)
|
rs754144094
|
|
|
NM_001164508.2(NEB):c.24575G>C (p.Ser8192Thr)
|
rs2152874768
|
|
|
NM_001164508.2(NEB):c.24575dup (p.Ser8192fs)
|
rs2152874815
|
|
|
NM_001164508.2(NEB):c.24579+1G>T
|
rs2058584112
|
|
|
NM_001164508.2(NEB):c.24579+2T>C
|
rs1039759571
|
|
|
NM_001164508.2(NEB):c.24579+9T>C
|
|
|
|
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)
|
rs202048855
|
|
|
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=)
|
rs202048855
|
|
|
NM_001164508.2(NEB):c.2457G>A (p.Lys819=)
|
|
|
|
NM_001164508.2(NEB):c.24580-11G>A
|
|
|
|
NM_001164508.2(NEB):c.24580-1G>C
|
rs1574772311
|
|
|
NM_001164508.2(NEB):c.24581T>A (p.Val8194Glu)
|
|
|
|
NM_001164508.2(NEB):c.24582G>A (p.Val8194=)
|
|
|
|
NM_001164508.2(NEB):c.24586T>C (p.Tyr8196His)
|
|
|
|
NM_001164508.2(NEB):c.24589A>G (p.Lys8197Glu)
|
|
|
|
NM_001164508.2(NEB):c.24598C>T (p.Leu8200=)
|
|
|
|
NM_001164508.2(NEB):c.24603G>A (p.Gly8201=)
|
|
|
|
NM_001164508.2(NEB):c.24608C>G (p.Ala8203Gly)
|
rs2152863881
|
|
|
NM_001164508.2(NEB):c.2460T>C (p.Phe820=)
|
rs981135945
|
|
|
NM_001164508.2(NEB):c.24612C>A (p.Thr8204=)
|
|
|
|
NM_001164508.2(NEB):c.24615_24616insCA (p.Thr8206fs)
|
|
|
|
NM_001164508.2(NEB):c.24617del (p.Thr8206fs)
|
rs2152863770
|
|
|
NM_001164508.2(NEB):c.24619C>A (p.Pro8207Thr)
|
|
|
|
NM_001164508.2(NEB):c.24620C>G (p.Pro8207Arg)
|
|
|
|
NM_001164508.2(NEB):c.24624T>C (p.Phe8208=)
|
|
|
|
NM_001164508.2(NEB):c.24625A>G (p.Thr8209Ala)
|
rs1680474922
|
|
|
NM_001164508.2(NEB):c.24630T>C (p.Pro8210=)
|
rs1331906548
|
|
|
NM_001164508.2(NEB):c.24632A>C (p.Glu8211Ala)
|
rs201243201
|
|
|
NM_001164508.2(NEB):c.24633G>A (p.Glu8211=)
|
|
|
|
NM_001164508.2(NEB):c.24636G>A (p.Met8212Ile)
|
rs770656983
|
|
|
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs)
|
rs1357811155
|
|
|
NM_001164508.2(NEB):c.24657A>C (p.Gln8219His)
|
|
|
|
NM_001164508.2(NEB):c.24660A>G (p.Glu8220=)
|
|
|
|
NM_001164508.2(NEB):c.24660A>T (p.Glu8220Asp)
|
|
|
|
NM_001164508.2(NEB):c.24663C>T (p.Asn8221=)
|
rs2152862292
|
|
|
NM_001164508.2(NEB):c.24666T>C (p.Phe8222=)
|
rs2152862127
|
|
|
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)
|
rs794727136
|
|
|
NM_001164508.2(NEB):c.24667dup (p.Ser8223fs)
|
|
|
|
NM_001164508.2(NEB):c.24668G>A (p.Ser8223Asn)
|
|
|
|
NM_001164508.2(NEB):c.24672+11A>C
|
|
|
|
NM_001164508.2(NEB):c.24672+1G>C
|
|
|
|
NM_001164508.2(NEB):c.24672+1del
|
rs2152861881
|
|
|
NM_001164508.2(NEB):c.24672+7T>C
|
rs2152861490
|
|
|
NM_001164508.2(NEB):c.24672+7dup
|
rs750437206
|
|
|
NM_001164508.2(NEB):c.24673-10G>T
|
rs2058075467
|
|
|
NM_001164508.2(NEB):c.24673-18C>A
|
|
|
|
NM_001164508.2(NEB):c.24673-19G>A
|
|
|
|
NM_001164508.2(NEB):c.24673-1G>A
|
rs1574741105
|
|
|
NM_001164508.2(NEB):c.24673-1G>C
|
|
|
|
NM_001164508.2(NEB):c.24673-20T>C
|
rs886038450
|
|
|
NM_001164508.2(NEB):c.24673-6C>T
|
rs2152852833
|
|
|
NM_001164508.2(NEB):c.24673-7dup
|
rs1177278436
|
|
|
NM_001164508.2(NEB):c.24683_24684del (p.Lys8228fs)
|
|
|
|
NM_001164508.2(NEB):c.24690C>G (p.Asn8230Lys)
|
rs2058061871
|
|
|
NM_001164508.2(NEB):c.24690C>T (p.Asn8230=)
|
|
|
|
NM_001164508.2(NEB):c.24700G>C (p.Ala8234Pro)
|
|
|
|
NM_001164508.2(NEB):c.24708G>C (p.Pro8236=)
|
rs768683537
|
|
|
NM_001164508.2(NEB):c.24710C>T (p.Thr8237Ile)
|
rs369083039
|
|
|
NM_001164508.2(NEB):c.24710_24731del (p.Thr8237fs)
|
rs761067911
|
|
|
NM_001164508.2(NEB):c.24710dup (p.Pro8238fs)
|
|
|
|
NM_001164508.2(NEB):c.24714T>C (p.Pro8238=)
|
rs775453998
|
|
|
NM_001164508.2(NEB):c.24720T>C (p.Thr8240=)
|
|
|
|
NM_001164508.2(NEB):c.24722C>T (p.Pro8241Leu)
|
rs2152851388
|
|
|
NM_001164508.2(NEB):c.24722_24723del (p.Pro8241fs)
|
|
|
|
NM_001164508.2(NEB):c.24728T>G (p.Met8243Arg)
|
rs778196202
|
|
|
NM_001164508.2(NEB):c.2472_2638-455del
|
|
|
|
NM_001164508.2(NEB):c.24731A>G (p.Glu8244Gly)
|
rs2152851090
|
|
|
NM_001164508.2(NEB):c.24733A>G (p.Arg8245Gly)
|
rs2058041442
|
|
|
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)
|
rs776059611
|
|
|
NM_001164508.2(NEB):c.24754A>G (p.Asn8252Asp)
|
|
|
|
NM_001164508.2(NEB):c.24756C>T (p.Asn8252=)
|
|
|
|
NM_001164508.2(NEB):c.24758T>C (p.Ile8253Thr)
|
|
|
|
NM_001164508.2(NEB):c.24762C>T (p.Ser8254=)
|
|
|
|
NM_001164508.2(NEB):c.24764C>T (p.Ser8255Leu)
|
|
|
|
NM_001164508.2(NEB):c.24765+11G>A
|
|
|
|
NM_001164508.2(NEB):c.24765+15T>A
|
|
|
|
NM_001164508.2(NEB):c.24765+15T>C
|
|
|
|
NM_001164508.2(NEB):c.24765+19_24765+24del
|
|
|
|
NM_001164508.2(NEB):c.24765+1G>A
|
rs2058028669
|
|
|
NM_001164508.2(NEB):c.24765+2T>A
|
rs2152850167
|
|
|
NM_001164508.2(NEB):c.24765+8C>A
|
|
|
|
NM_001164508.2(NEB):c.24765G>A (p.Ser8255=)
|
|
|
|
NM_001164508.2(NEB):c.24766-16G>A
|
|
|
|
NM_001164508.2(NEB):c.24766-16G>C
|
|
|
|
NM_001164508.2(NEB):c.24766-17G>A
|
|
|
|
NM_001164508.2(NEB):c.24766-5A>G
|
rs2152829210
|
|
|
NM_001164508.2(NEB):c.24766-6C>A
|
rs2057361729
|
|
|
NM_001164508.2(NEB):c.24766-6C>T
|
rs2057361729
|
|
|
NM_001164508.2(NEB):c.24766-7G>T
|
|
|
|
NM_001164508.2(NEB):c.24766-9C>T
|
rs1214414494
|
|
|
NM_001164508.2(NEB):c.24769C>A (p.Leu8257Ile)
|
|
|
|
NM_001164508.2(NEB):c.24769C>T (p.Leu8257Phe)
|
|
|
|
NM_001164508.2(NEB):c.24772T>A (p.Tyr8258Asn)
|
|
|
|
NM_001164508.2(NEB):c.24775_24780del (p.Asp8260_Ser8261del)
|
|
|
|
NM_001164508.2(NEB):c.2477C>T (p.Ala826Val)
|
|
|
|
NM_001164508.2(NEB):c.24781A>G (p.Ser8261Gly)
|
|
|
|
NM_001164508.2(NEB):c.24783T>C (p.Ser8261=)
|
rs780485898
|
|
|
NM_001164508.2(NEB):c.24787C>T (p.Arg8263Trp)
|
|
|
|
NM_001164508.2(NEB):c.24788G>A (p.Arg8263Gln)
|
rs745615279
|
|
|
NM_001164508.2(NEB):c.2478C>A (p.Ala826=)
|
rs1233200041
|
|
|
NM_001164508.2(NEB):c.24798del (p.Gln8267fs)
|
|
|
|
NM_001164508.2(NEB):c.24799C>G (p.Gln8267Glu)
|
rs2152828559
|
|
|
NM_001164508.2(NEB):c.2479A>G (p.Ile827Val)
|
|
|
|
NM_001164508.2(NEB):c.24802G>A (p.Gly8268Ser)
|
|
|
|
NM_001164508.2(NEB):c.24816T>C (p.Tyr8272=)
|
|
|
|
NM_001164508.2(NEB):c.24816T>G (p.Tyr8272Ter)
|
rs1265163979
|
|
|
NM_001164508.2(NEB):c.24817G>A (p.Val8273Ile)
|
|
|
|
NM_001164508.2(NEB):c.24819A>G (p.Val8273=)
|
|
|
|
NM_001164508.2(NEB):c.24827C>A (p.Thr8276Asn)
|
|
|
|
NM_001164508.2(NEB):c.24827C>T (p.Thr8276Ile)
|
|
|
|
NM_001164508.2(NEB):c.24828C>T (p.Thr8276=)
|
|
|
|
NM_001164508.2(NEB):c.24829C>G (p.Pro8277Ala)
|
|
|
|
NM_001164508.2(NEB):c.24830C>A (p.Pro8277His)
|
rs2152828148
|
|
|
NM_001164508.2(NEB):c.24831C>G (p.Pro8277=)
|
rs1170681985
|
|
|
NM_001164508.2(NEB):c.24832G>C (p.Glu8278Gln)
|
|
|
|
NM_001164508.2(NEB):c.24839G>A (p.Arg8280Lys)
|
rs759522039
|
|
|
NM_001164508.2(NEB):c.24845T>C (p.Val8282Ala)
|
|
|
|
NM_001164508.2(NEB):c.24850G>A (p.Glu8284Lys)
|
|
|
|
NM_001164508.2(NEB):c.24857A>G (p.Gln8286Arg)
|
|
|
|
NM_001164508.2(NEB):c.24859C>A (p.Arg8287=)
|
rs200804762
|
|
|
NM_001164508.2(NEB):c.24859C>T (p.Arg8287Trp)
|
rs200804762
|
|
|
NM_001164508.2(NEB):c.2485C>G (p.Leu829Val)
|
rs2099513616
|
|
|
NM_001164508.2(NEB):c.2485C>T (p.Leu829=)
|
|
|
|
NM_001164508.2(NEB):c.24860G>A (p.Arg8287Gln)
|
|
|
|
NM_001164508.2(NEB):c.24867C>A (p.Ile8289=)
|
|
|
|
NM_001164508.2(NEB):c.24872C>T (p.Thr8291Met)
|
|
|
|
NM_001164508.2(NEB):c.24873+10G>A
|
rs2152826984
|
|
|
NM_001164508.2(NEB):c.24873+12A>G
|
|
|
|
NM_001164508.2(NEB):c.24873+15_24873+18dup
|
|
|
|
NM_001164508.2(NEB):c.24873+18T>C
|
|
|
|
NM_001164508.2(NEB):c.24873+20G>A
|
|
|
|
NM_001164508.2(NEB):c.24873+20G>C
|
|
|
|
NM_001164508.2(NEB):c.24873+9G>A
|
rs2057311671
|
|
|
NM_001164508.2(NEB):c.24873G>T (p.Thr8291=)
|
|
|
|
NM_001164508.2(NEB):c.24874-16A>G
|
|
|
|
NM_001164508.2(NEB):c.24874-9A>T
|
rs2152823775
|
|
|
NM_001164508.2(NEB):c.24875T>C (p.Val8292Ala)
|
|
|
|
NM_001164508.2(NEB):c.2487G>A (p.Leu829=)
|
rs768877114
|
|
|
NM_001164508.2(NEB):c.24901C>A (p.His8301Asn)
|
|
|
|
NM_001164508.2(NEB):c.24903C>T (p.His8301=)
|
|
|
|
NM_001164508.2(NEB):c.24907G>C (p.Gly8303Arg)
|
rs780925059
|
|
|
NM_001164508.2(NEB):c.24908G>A (p.Gly8303Asp)
|
|
|
|
NM_001164508.2(NEB):c.24923T>C (p.Val8308Ala)
|
|
|
|
NM_001164508.2(NEB):c.24925G>C (p.Val8309Leu)
|
rs1401528056
|
|
|
NM_001164508.2(NEB):c.24927G>A (p.Val8309=)
|
rs1305389773
|
|
|
NM_001164508.2(NEB):c.24930A>C (p.Thr8310=)
|
|
|
|
NM_001164508.2(NEB):c.2493A>G (p.Ala831=)
|
|
|
|
NM_001164508.2(NEB):c.24946C>G (p.Arg8316Gly)
|
|
|
|
NM_001164508.2(NEB):c.24947G>A (p.Arg8316Gln)
|
|
|
|
NM_001164508.2(NEB):c.24949G>A (p.Val8317Ile)
|
rs1341580706
|
|
|
NM_001164508.2(NEB):c.24951A>C (p.Val8317=)
|
|
|
|
NM_001164508.2(NEB):c.24968_24969insG (p.Asp8323fs)
|
|
|
|
NM_001164508.2(NEB):c.2496C>T (p.Ala832=)
|
|
|
|
NM_001164508.2(NEB):c.24971T>C (p.Phe8324Ser)
|
|
|
|
NM_001164508.2(NEB):c.24972C>T (p.Phe8324=)
|
|
|
|
NM_001164508.2(NEB):c.24980T>C (p.Ile8327Thr)
|
rs775698655
|
|
|
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)
|
rs767709270
|
|
|
NM_001164508.2(NEB):c.24994_24995dup (p.Gln8333fs)
|
|
|
|
NM_001164508.2(NEB):c.24998A>T (p.Gln8333Leu)
|
|
|
|
NM_001164508.2(NEB):c.24999G>A (p.Gln8333=)
|
rs774663967
|
|
|
NM_001164508.2(NEB):c.2499del (p.Ala834fs)
|
rs1553564693
|
|
|
NM_001164508.2(NEB):c.249C>A (p.Thr83=)
|
rs200936927
|
|
|
NM_001164508.2(NEB):c.24G>A (p.Glu8=)
|
|
|
|
NM_001164508.2(NEB):c.25002G>A (p.Arg8334=)
|
rs267598917
|
|
|
NM_001164508.2(NEB):c.25003A>T (p.Lys8335Ter)
|
rs2152821411
|
|
|
NM_001164508.2(NEB):c.25005A>G (p.Lys8335=)
|
rs996538018
|
|
|
NM_001164508.2(NEB):c.25007T>C (p.Val8336Ala)
|
rs1574651626
|
|
|
NM_001164508.2(NEB):c.25008G>A (p.Val8336=)
|
|
|
|
NM_001164508.2(NEB):c.25010T>G (p.Val8337Gly)
|
rs2057127460
|
|
|
NM_001164508.2(NEB):c.25021C>A (p.Gln8341Lys)
|
|
|
|
NM_001164508.2(NEB):c.25027C>T (p.Arg8343Trp)
|
|
|
|
NM_001164508.2(NEB):c.25029G>A (p.Arg8343=)
|
|
|
|
NM_001164508.2(NEB):c.25037A>G (p.Gln8346Arg)
|
rs2057118708
|
|
|
NM_001164508.2(NEB):c.25039G>C (p.Asp8347His)
|
|
|
|
NM_001164508.2(NEB):c.25047G>A (p.Glu8349=)
|
|
|
|
NM_001164508.2(NEB):c.25049C>T (p.Thr8350Ile)
|
rs2057112732
|
|
|
NM_001164508.2(NEB):c.25053T>A (p.Ile8351=)
|
rs1316503376
|
|
|
NM_001164508.2(NEB):c.25053T>C (p.Ile8351=)
|
rs1316503376
|
|
|
NM_001164508.2(NEB):c.25057+12T>C
|
|
|
|
NM_001164508.2(NEB):c.25057+15G>A
|
|
|
|
NM_001164508.2(NEB):c.25057+1G>A
|
rs1191429915
|
|
|
NM_001164508.2(NEB):c.25057+1G>C
|
rs1191429915
|
|
|
NM_001164508.2(NEB):c.25057+1G>T
|
rs1191429915
|
|
|
NM_001164508.2(NEB):c.25057+20G>A
|
|
|
|
NM_001164508.2(NEB):c.25057+9G>A
|
rs2152820055
|
|
|
NM_001164508.2(NEB):c.25058-10T>C
|
|
|
|
NM_001164508.2(NEB):c.25058-13G>A
|
|
|
|
NM_001164508.2(NEB):c.25058-16_25058-14dup
|
|
|
|
NM_001164508.2(NEB):c.25058-2A>C
|
rs866309952
|
|
|
NM_001164508.2(NEB):c.25066G>A (p.Val8356Ile)
|
|
|
|
NM_001164508.2(NEB):c.25077T>C (p.Thr8359=)
|
rs2152811147
|
|
|
NM_001164508.2(NEB):c.25080T>A (p.Asn8360Lys)
|
|
|
|
NM_001164508.2(NEB):c.25083T>C (p.Pro8361=)
|
rs781270392
|
|
|
NM_001164508.2(NEB):c.25088C>A (p.Ser8363Ter)
|
|
|
|
NM_001164508.2(NEB):c.25088C>T (p.Ser8363Leu)
|
|
|
|
NM_001164508.2(NEB):c.25098C>T (p.Asp8366=)
|
|
|
|
NM_001164508.2(NEB):c.25099T>C (p.Tyr8367His)
|
|
|
|
NM_001164508.2(NEB):c.25101T>C (p.Tyr8367=)
|
|
|
|
NM_001164508.2(NEB):c.25105C>G (p.Pro8369Ala)
|
rs1038960610
|
|
|
NM_001164508.2(NEB):c.25107A>C (p.Pro8369=)
|
rs763433145
|
|
|
NM_001164508.2(NEB):c.25116C>T (p.Asp8372=)
|
|
|
|
NM_001164508.2(NEB):c.25119C>A (p.Asn8373Lys)
|
|
|
|
NM_001164508.2(NEB):c.25119C>T (p.Asn8373=)
|
rs765813999
|
|
|
NM_001164508.2(NEB):c.25128C>T (p.Ser8376=)
|
|
|
|
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter)
|
rs777232352
|
|
|
NM_001164508.2(NEB):c.25130G>C (p.Arg8377Pro)
|
|
|
|
NM_001164508.2(NEB):c.25132A>G (p.Ser8378Gly)
|
|
|
|
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter)
|
rs760200697
|
|
|
NM_001164508.2(NEB):c.25140C>G (p.His8380Gln)
|
|
|
|
NM_001164508.2(NEB):c.25142T>C (p.Met8381Thr)
|
|
|
|
NM_001164508.2(NEB):c.25146T>C (p.Ile8382=)
|
|
|
|
NM_001164508.2(NEB):c.2514C>T (p.Asn838=)
|
rs962547010
|
|
|
NM_001164508.2(NEB):c.25150+16_25150+17insC
|
|
|
|
NM_001164508.2(NEB):c.25150+8A>G
|
rs1293280918
|
|
|
NM_001164508.2(NEB):c.25150+9G>T
|
rs2152809670
|
|
|
NM_001164508.2(NEB):c.25151-12C>A
|
|
|
|
NM_001164508.2(NEB):c.25151-5C>T
|
rs1289143121
|
|
|
NM_001164508.2(NEB):c.25151-9C>T
|
|
|
|
NM_001164508.2(NEB):c.25152C>G (p.Val8384=)
|
|
|
|
NM_001164508.2(NEB):c.25153C>A (p.Gln8385Lys)
|
|
|
|
NM_001164508.2(NEB):c.25162C>A (p.Arg8388Ser)
|
|
|
|
NM_001164508.2(NEB):c.25165del (p.Arg8389fs)
|
|
|
|
NM_001164508.2(NEB):c.25166G>A (p.Arg8389Gln)
|
|
|
|
NM_001164508.2(NEB):c.25170C>T (p.Ser8390=)
|
|
|
|
NM_001164508.2(NEB):c.25174G>A (p.Glu8392Lys)
|
rs121913662
|
|
|
NM_001164508.2(NEB):c.25176G>A (p.Glu8392=)
|
|
|
|
NM_001164508.2(NEB):c.25179G>A (p.Gln8393=)
|
rs2152778292
|
|
|
NM_001164508.2(NEB):c.2517C>T (p.Thr839=)
|
|
|
|
NM_001164508.2(NEB):c.25180T>C (p.Ser8394Pro)
|
|
|
|
NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter)
|
rs2055484249
|
|
|
NM_001164508.2(NEB):c.25184G>T (p.Arg8395Leu)
|
rs779983347
|
|
|
NM_001164508.2(NEB):c.25188T>G (p.Ser8396=)
|
rs758444605
|
|
|
NM_001164508.2(NEB):c.25192A>G (p.Ser8398Gly)
|
rs1308512715
|
|
|
NM_001164508.2(NEB):c.25197A>C (p.Ala8399=)
|
rs779234504
|
|
|
NM_001164508.2(NEB):c.25198C>T (p.Leu8400=)
|
rs2055471102
|
|
|
NM_001164508.2(NEB):c.25203_25204inv (p.Ile8402Val)
|
|
|
|
NM_001164508.2(NEB):c.25208G>A (p.Ser8403Asn)
|
rs374494479
|
|
|
NM_001164508.2(NEB):c.25209dup (p.Gly8404fs)
|
rs2152777457
|
|
|
NM_001164508.2(NEB):c.25212G>A (p.Gly8404=)
|
rs1354948924
|
|
|
NM_001164508.2(NEB):c.25212G>T (p.Gly8404=)
|
|
|
|
NM_001164508.2(NEB):c.25214G>T (p.Gly8405Val)
|
rs768811942
|
|
|
NM_001164508.2(NEB):c.25214del (p.Gly8405fs)
|
rs1553520266
|
|
|
NM_001164508.2(NEB):c.25216GAG[1] (p.Glu8407del)
|
|
|
|
NM_001164508.2(NEB):c.25218G>A (p.Glu8406=)
|
|
|
|
NM_001164508.2(NEB):c.25227T>A (p.Ser8409=)
|
rs2152776955
|
|
|
NM_001164508.2(NEB):c.25227T>C (p.Ser8409=)
|
|
|
|
NM_001164508.2(NEB):c.25228G>A (p.Glu8410Lys)
|
|
|
|
NM_001164508.2(NEB):c.2523+10_2523+17del
|
rs1553564544
|
|
|
NM_001164508.2(NEB):c.2523+17G>T
|
|
|
|
NM_001164508.2(NEB):c.2523+2T>A
|
rs2099513404
|
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|
NM_001164508.2(NEB):c.2523+6T>C
|
rs2099513341
|
|
|
NM_001164508.2(NEB):c.2523+8T>C
|
|
|
|
NM_001164508.2(NEB):c.25235_25297+90del
|
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|
|
NM_001164508.2(NEB):c.25236A>G (p.Ser8412=)
|
rs1574544943
|
|
|
NM_001164508.2(NEB):c.2524-10G>A
|
|
|
|
NM_001164508.2(NEB):c.2524-12A>G
|
|
|
|
NM_001164508.2(NEB):c.2524-12A>T
|
|
|
|
NM_001164508.2(NEB):c.2524-15G>A
|
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|
|
NM_001164508.2(NEB):c.2524-17G>A
|
|
|
|
NM_001164508.2(NEB):c.2524-2A>G
|
rs2148951277
|
|
|
NM_001164508.2(NEB):c.2524-9T>C
|
|
|
|
NM_001164508.2(NEB):c.25251C>T (p.His8417=)
|
rs2152776470
|
|
|
NM_001164508.2(NEB):c.25255C>T (p.Leu8419Phe)
|
|
|
|
NM_001164508.2(NEB):c.25259C>A (p.Ser8420Ter)
|
rs949111967
|
|
|
NM_001164508.2(NEB):c.25260G>C (p.Ser8420=)
|
|
|
|
NM_001164508.2(NEB):c.25261A>C (p.Thr8421Pro)
|
|
|
|
NM_001164508.2(NEB):c.25269C>T (p.Ser8423=)
|
rs776563539
|
|
|
NM_001164508.2(NEB):c.25272C>T (p.Asp8424=)
|
rs772073084
|
|
|
NM_001164508.2(NEB):c.25273G>A (p.Gly8425Arg)
|
|
|
|
NM_001164508.2(NEB):c.25287A>C (p.Ala8429=)
|
rs915172166
|
|
|
NM_001164508.2(NEB):c.25287A>G (p.Ala8429=)
|
|
|
|
NM_001164508.2(NEB):c.25290C>T (p.Val8430=)
|
|
|
|
NM_001164508.2(NEB):c.25297+15del
|
|
|
|
NM_001164508.2(NEB):c.25297+1G>A
|
rs113525641
|
|
|
NM_001164508.2(NEB):c.25297+4C>T
|
rs1410859190
|
|
|
NM_001164508.2(NEB):c.25297+9G>C
|
|
|
|
NM_001164508.2(NEB):c.25298-10T>C
|
|
|
|
NM_001164508.2(NEB):c.25298-11_25298-10del
|
rs1553519312
|
|
|
NM_001164508.2(NEB):c.25298-11dup
|
rs34415027
|
|
|
NM_001164508.2(NEB):c.25298-13C>G
|
|
|
|
NM_001164508.2(NEB):c.25298-14C>A
|
|
|
|
NM_001164508.2(NEB):c.25298-14C>G
|
|
|
|
NM_001164508.2(NEB):c.25298-15C>T
|
|
|
|
NM_001164508.2(NEB):c.25298-16G>T
|
|
|
|
NM_001164508.2(NEB):c.25298-18T>G
|
|
|
|
NM_001164508.2(NEB):c.25298-2A>C
|
|
|
|
NM_001164508.2(NEB):c.25298-2A>G
|
|
|
|
NM_001164508.2(NEB):c.25298-4T>C
|
|
|
|
NM_001164508.2(NEB):c.25298-4del
|
|
|
|
NM_001164508.2(NEB):c.25298-4dup
|
rs757290966
|
|
|
NM_001164508.2(NEB):c.25304A>G (p.Lys8435Arg)
|
|
|
|
NM_001164508.2(NEB):c.25308T>C (p.His8436=)
|
rs966105402
|
|
|
NM_001164508.2(NEB):c.25323G>A (p.Glu8441=)
|
rs1370977464
|
|
|
NM_001164508.2(NEB):c.25333C>T (p.Gln8445Ter)
|
rs2152763931
|
|
|
NM_001164508.2(NEB):c.25337G>A (p.Arg8446Gln)
|
rs751128054
|
|
|
NM_001164508.2(NEB):c.25338A>G (p.Arg8446=)
|
rs2152763764
|
|
|
NM_001164508.2(NEB):c.25343C>T (p.Ser8448Phe)
|
|
|
|
NM_001164508.2(NEB):c.25344T>C (p.Ser8448=)
|
|
|
|
NM_001164508.2(NEB):c.25347A>T (p.Ser8449=)
|
rs779552151
|
|
|
NM_001164508.2(NEB):c.25350T>C (p.Val8450=)
|
|
|
|
NM_001164508.2(NEB):c.25352C>T (p.Ala8451Val)
|
|
|
|
NM_001164508.2(NEB):c.25359A>G (p.Gln8453=)
|
rs377748897
|
|
|
NM_001164508.2(NEB):c.25360C>T (p.Gln8454Ter)
|
|
|
|
NM_001164508.2(NEB):c.25361A>G (p.Gln8454Arg)
|
|
|
|
NM_001164508.2(NEB):c.25362G>A (p.Gln8454=)
|
|
|
|
NM_001164508.2(NEB):c.25377C>T (p.Ser8459=)
|
rs2054887340
|
|
|
NM_001164508.2(NEB):c.25386T>C (p.Ser8462=)
|
|
|
|
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr)
|
rs376984481
|
|
|
NM_001164508.2(NEB):c.25390C>G (p.Pro8464Ala)
|
|
|
|
NM_001164508.2(NEB):c.25396A>G (p.Thr8466Ala)
|
rs2152762849
|
|
|
NM_001164508.2(NEB):c.25404+10T>A
|
rs763079125
|
|
|
NM_001164508.2(NEB):c.25404+10T>C
|
rs763079125
|
|
|
NM_001164508.2(NEB):c.25404+13C>T
|
|
|
|
NM_001164508.2(NEB):c.25404+14A>G
|
|
|
|
NM_001164508.2(NEB):c.25404+14A>T
|
|
|
|
NM_001164508.2(NEB):c.25405-10C>T
|
|
|
|
NM_001164508.2(NEB):c.25405-11C>T
|
|
|
|
NM_001164508.2(NEB):c.25405-12C>A
|
|
|
|
NM_001164508.2(NEB):c.25405-15del
|
|
|
|
NM_001164508.2(NEB):c.25405-17T>A
|
|
|
|
NM_001164508.2(NEB):c.25405-17dup
|
rs148839798
|
|
|
NM_001164508.2(NEB):c.25405-20T>G
|
|
|
|
NM_001164508.2(NEB):c.25405-6G>T
|
|
|
|
NM_001164508.2(NEB):c.25409T>C (p.Ile8470Thr)
|
rs1280701887
|
|
|
NM_001164508.2(NEB):c.25413C>T (p.Phe8471=)
|
rs2152621085
|
|
|
NM_001164508.2(NEB):c.2541C>T (p.Asp847=)
|
|
|
|
NM_001164508.2(NEB):c.25426_25429dup (p.Tyr8477Ter)
|
rs2152620357
|
|
|
NM_001164508.2(NEB):c.25429T>C (p.Tyr8477His)
|
|
|
|
NM_001164508.2(NEB):c.2542T>C (p.Tyr848His)
|
|
|
|
NM_001164508.2(NEB):c.25438G>T (p.Ala8480Ser)
|
|
|
|
NM_001164508.2(NEB):c.25443T>C (p.Asp8481=)
|
|
|
|
NM_001164508.2(NEB):c.25444G>A (p.Ala8482Thr)
|
|
|
|
NM_001164508.2(NEB):c.25447G>C (p.Asp8483His)
|
rs993833092
|
|
|
NM_001164508.2(NEB):c.25447G>T (p.Asp8483Tyr)
|
|
|
|
NM_001164508.2(NEB):c.25452G>A (p.Glu8484=)
|
rs2152619253
|
|
|
NM_001164508.2(NEB):c.25464G>A (p.Lys8488=)
|
|
|
|
NM_001164508.2(NEB):c.25469G>A (p.Gly8490Glu)
|
|
|
|
NM_001164508.2(NEB):c.25476C>A (p.Ala8492=)
|
|
|
|
NM_001164508.2(NEB):c.25479C>T (p.Ile8493=)
|
rs2049826815
|
|
|
NM_001164508.2(NEB):c.2547A>G (p.Glu849=)
|
rs2148950522
|
|
|
NM_001164508.2(NEB):c.25498G>A (p.Asp8500Asn)
|
rs1574251962
|
|
|
NM_001164508.2(NEB):c.254A>G (p.Tyr85Cys)
|
rs1201662596
|
|
|
NM_001164508.2(NEB):c.25500T>C (p.Asp8500=)
|
|
|
|
NM_001164508.2(NEB):c.25509G>A (p.Trp8503Ter)
|
|
|
|
NM_001164508.2(NEB):c.25515T>C (p.Tyr8505=)
|
|
|
|
NM_001164508.2(NEB):c.25519A>G (p.Thr8507Ala)
|
|
|
|
NM_001164508.2(NEB):c.25522G>A (p.Val8508Met)
|
|
|
|
NM_001164508.2(NEB):c.25527G>A (p.Gln8509=)
|
|
|
|
NM_001164508.2(NEB):c.2552G>A (p.Ser851Asn)
|
|
|
|
NM_001164508.2(NEB):c.25534G>A (p.Gly8512Ser)
|
rs751394716
|
|
|
NM_001164508.2(NEB):c.25534G>C (p.Gly8512Arg)
|
|
|
|
NM_001164508.2(NEB):c.25535G>A (p.Gly8512Asp)
|
rs2152614968
|
|
|
NM_001164508.2(NEB):c.25536C>T (p.Gly8512=)
|
|
|
|
NM_001164508.2(NEB):c.25540A>G (p.Thr8514Ala)
|
|
|
|
NM_001164508.2(NEB):c.25542C>G (p.Thr8514=)
|
rs3821324
|
|
|
NM_001164508.2(NEB):c.25551C>T (p.Leu8517=)
|
|
|
|
NM_001164508.2(NEB):c.25564G>T (p.Val8522Phe)
|
rs117861109
|
|
|
NM_001164508.2(NEB):c.25565T>C (p.Val8522Ala)
|
|
|
|
NM_001164508.2(NEB):c.2566_2569del (p.Ile856fs)
|
rs2148949901
|
|
|
NM_001164508.2(NEB):c.2567T>C (p.Ile856Thr)
|
|
|
|
NM_001164508.2(NEB):c.2569G>A (p.Gly857Arg)
|
rs1559253666
|
|
|
NM_001164508.2(NEB):c.2572G>A (p.Ala858Thr)
|
|
|
|
NM_001164508.2(NEB):c.2577C>G (p.Leu859=)
|
rs777445109
|
|
|
NM_001164508.2(NEB):c.257T>C (p.Ile86Thr)
|
|
|
|
NM_001164508.2(NEB):c.2581A>G (p.Ile861Val)
|
rs755695934
|
|
|
NM_001164508.2(NEB):c.2586T>A (p.Asn862Lys)
|
|
|
|
NM_001164508.2(NEB):c.2586T>C (p.Asn862=)
|
|
|
|
NM_001164508.2(NEB):c.258T>C (p.Ile86=)
|
rs764472169
|
|
|
NM_001164508.2(NEB):c.2595A>G (p.Pro865=)
|
|
|
|
NM_001164508.2(NEB):c.25G>A (p.Glu9Lys)
|
rs2151148401
|
|
|
NM_001164508.2(NEB):c.2607C>T (p.His869=)
|
rs1576361832
|
|
|
NM_001164508.2(NEB):c.2609C>T (p.Ser870Phe)
|
rs896068588
|
|
|
NM_001164508.2(NEB):c.2610C>T (p.Ser870=)
|
|
|
|
NM_001164508.2(NEB):c.2618C>T (p.Thr873Ile)
|
|
|
|
NM_001164508.2(NEB):c.2619A>G (p.Thr873=)
|
|
|
|
NM_001164508.2(NEB):c.2624A>G (p.Lys875Arg)
|
|
|
|
NM_001164508.2(NEB):c.2625A>G (p.Lys875=)
|
rs1205199033
|
|
|
NM_001164508.2(NEB):c.2630A>T (p.Gln877Leu)
|
rs373892420
|
|
|
NM_001164508.2(NEB):c.2637+12T>C
|
|
|
|
NM_001164508.2(NEB):c.2637+20T>A
|
|
|
|
NM_001164508.2(NEB):c.2637+3G>C
|
|
|
|
NM_001164508.2(NEB):c.2637+7G>A
|
|
|
|
NM_001164508.2(NEB):c.2637+7G>C
|
rs752706153
|
|
|
NM_001164508.2(NEB):c.2638-10C>T
|
rs1576291664
|
|
|
NM_001164508.2(NEB):c.2638-18A>G
|
|
|
|
NM_001164508.2(NEB):c.2638-19G>T
|
rs750188445
|
|
|
NM_001164508.2(NEB):c.2638-20T>C
|
|
|
|
NM_001164508.2(NEB):c.2638-4A>G
|
rs1236565312
|
|
|
NM_001164508.2(NEB):c.2638-9T>C
|
rs2148846461
|
|
|
NM_001164508.2(NEB):c.2640C>G (p.Arg880=)
|
|
|
|
NM_001164508.2(NEB):c.2647C>T (p.Arg883Ter)
|
rs1333519240
|
|
|
NM_001164508.2(NEB):c.264C>T (p.His88=)
|
|
|
|
NM_001164508.2(NEB):c.2658T>G (p.Tyr886Ter)
|
|
|
|
NM_001164508.2(NEB):c.2659G>A (p.Glu887Lys)
|
rs1553558398
|
|
|
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter)
|
rs1553558398
|
|
|
NM_001164508.2(NEB):c.2661A>G (p.Glu887=)
|
|
|
|
NM_001164508.2(NEB):c.2667A>G (p.Ser889=)
|
rs2148844718
|
|
|
NM_001164508.2(NEB):c.2673T>C (p.Thr891=)
|
rs2148844647
|
|
|
NM_001164508.2(NEB):c.2674A>G (p.Ile892Val)
|
|
|
|
NM_001164508.2(NEB):c.2675_2678del (p.Ile892fs)
|
rs2148844303
|
|
|
NM_001164508.2(NEB):c.2678A>G (p.Tyr893Cys)
|
|
|
|
NM_001164508.2(NEB):c.2679C>T (p.Tyr893=)
|
|
|
|
NM_001164508.2(NEB):c.2681C>A (p.Thr894Lys)
|
|
|
|
NM_001164508.2(NEB):c.2681C>T (p.Thr894Met)
|
|
|
|
NM_001164508.2(NEB):c.2682G>A (p.Thr894=)
|
|
|
|
NM_001164508.2(NEB):c.2682G>C (p.Thr894=)
|
|
|
|
NM_001164508.2(NEB):c.2685A>G (p.Ala895=)
|
rs2099481277
|
|
|
NM_001164508.2(NEB):c.2688T>A (p.Pro896=)
|
|
|
|
NM_001164508.2(NEB):c.2688T>C (p.Pro896=)
|
|
|
|
NM_001164508.2(NEB):c.2700C>G (p.Leu900=)
|
rs2099481133
|
|
|
NM_001164508.2(NEB):c.2709T>C (p.Thr903=)
|
|
|
|
NM_001164508.2(NEB):c.2731A>G (p.Ile911Val)
|
|
|
|
NM_001164508.2(NEB):c.2740G>A (p.Asp914Asn)
|
|
|
|
NM_001164508.2(NEB):c.2743G>A (p.Val915Ile)
|
|
|
|
NM_001164508.2(NEB):c.2745T>G (p.Val915=)
|
rs2148841610
|
|
|
NM_001164508.2(NEB):c.2757C>T (p.His919=)
|
|
|
|
NM_001164508.2(NEB):c.2760C>T (p.Ile920=)
|
rs2148840948
|
|
|
NM_001164508.2(NEB):c.2761T>C (p.Leu921=)
|
|
|
|
NM_001164508.2(NEB):c.2762T>C (p.Leu921Ser)
|
rs2099480203
|
|
|
NM_001164508.2(NEB):c.2766C>T (p.His922=)
|
|
|
|
NM_001164508.2(NEB):c.2769T>C (p.Ser923=)
|
|
|
|
NM_001164508.2(NEB):c.2772C>T (p.Tyr924=)
|
rs1466946196
|
|
|
NM_001164508.2(NEB):c.2778C>A (p.Tyr926Ter)
|
rs1576286971
|
|
|
NM_001164508.2(NEB):c.2778C>T (p.Tyr926=)
|
rs1576286971
|
|
|
NM_001164508.2(NEB):c.2781C>A (p.Pro927=)
|
rs745481666
|
|
|
NM_001164508.2(NEB):c.2781C>G (p.Pro927=)
|
rs745481666
|
|
|
NM_001164508.2(NEB):c.2781C>T (p.Pro927=)
|
|
|
|
NM_001164508.2(NEB):c.2782C>G (p.Pro928Ala)
|
|
|
|
NM_001164508.2(NEB):c.2783del (p.Pro928fs)
|
|
|
|
NM_001164508.2(NEB):c.2786A>G (p.Asp929Gly)
|
|
|
|
NM_001164508.2(NEB):c.2796T>C (p.Asn932=)
|
rs372724145
|
|
|
NM_001164508.2(NEB):c.2799G>A (p.Val933=)
|
|
|
|
NM_001164508.2(NEB):c.2803C>T (p.Leu935Phe)
|
|
|
|
NM_001164508.2(NEB):c.2817A>C (p.Ala939=)
|
rs1576285597
|
|
|
NM_001164508.2(NEB):c.2820T>C (p.Tyr940=)
|
rs1217380476
|
|
|
NM_001164508.2(NEB):c.2822C>T (p.Ala941Val)
|
rs765478068
|
|
|
NM_001164508.2(NEB):c.2833G>A (p.Asp945Asn)
|
|
|
|
NM_001164508.2(NEB):c.2833G>T (p.Asp945Tyr)
|
rs549231016
|
|
|
NM_001164508.2(NEB):c.2835+14G>A
|
|
|
|
NM_001164508.2(NEB):c.2835+17T>C
|
|
|
|
NM_001164508.2(NEB):c.2835+18C>T
|
|
|
|
NM_001164508.2(NEB):c.2835+19T>C
|
|
|
|
NM_001164508.2(NEB):c.2835+1G>A
|
|
|
|
NM_001164508.2(NEB):c.2835+20G>A
|
|
|
|
NM_001164508.2(NEB):c.2835+5G>C
|
rs2148837364
|
|
|
NM_001164508.2(NEB):c.2835+7A>T
|
|
|
|
NM_001164508.2(NEB):c.2836-10G>T
|
rs2148737884
|
|
|
NM_001164508.2(NEB):c.2836-13C>G
|
|
|
|
NM_001164508.2(NEB):c.2836-13C>T
|
|
|
|
NM_001164508.2(NEB):c.2836-15C>G
|
|
|
|
NM_001164508.2(NEB):c.2836-15C>T
|
|
|
|
NM_001164508.2(NEB):c.2836-19C>A
|
|
|
|
NM_001164508.2(NEB):c.2836-19C>T
|
|
|
|
NM_001164508.2(NEB):c.2836-2A>G
|
rs1208297049
|
|
|
NM_001164508.2(NEB):c.2836-3del
|
|
|
|
NM_001164508.2(NEB):c.2836-9G>A
|
rs2099429989
|
|
|
NM_001164508.2(NEB):c.283C>A (p.Leu95Ile)
|
|
|
|
NM_001164508.2(NEB):c.2855A>G (p.Tyr952Cys)
|
|
|
|
NM_001164508.2(NEB):c.2856C>T (p.Tyr952=)
|
rs2148736842
|
|
|
NM_001164508.2(NEB):c.2858A>G (p.Asn953Ser)
|
|
|
|
NM_001164508.2(NEB):c.2859T>G (p.Asn953Lys)
|
|
|
|
NM_001164508.2(NEB):c.285T>C (p.Leu95=)
|
|
|
|
NM_001164508.2(NEB):c.2866A>T (p.Met956Leu)
|
|
|
|
NM_001164508.2(NEB):c.2874T>C (p.Gly958=)
|
|
|
|
NM_001164508.2(NEB):c.2880_2883del (p.Trp961fs)
|
rs2148735901
|
|
|
NM_001164508.2(NEB):c.2884G>A (p.Val962Met)
|
|
|
|
NM_001164508.2(NEB):c.288del (p.Phe96fs)
|
rs2150918170
|
|
|
NM_001164508.2(NEB):c.2895G>A (p.Gly965=)
|
rs761681205
|
|
|
NM_001164508.2(NEB):c.2896T>A (p.Ser966Thr)
|
|
|
|
NM_001164508.2(NEB):c.2904A>G (p.Glu968=)
|
rs2099429615
|
|
|
NM_001164508.2(NEB):c.2906T>G (p.Met969Arg)
|
rs2099429603
|
|
|
NM_001164508.2(NEB):c.2919G>A (p.Lys973=)
|
|
|
|
NM_001164508.2(NEB):c.2921G>T (p.Arg974Leu)
|
rs368642083
|
|
|
NM_001164508.2(NEB):c.2921_2924del (p.Arg974fs)
|
|
|
|
NM_001164508.2(NEB):c.2934C>A (p.Ile978=)
|
|
|
|
NM_001164508.2(NEB):c.2934C>T (p.Ile978=)
|
|
|
|
NM_001164508.2(NEB):c.294+10A>T
|
|
|
|
NM_001164508.2(NEB):c.294+12A>G
|
|
|
|
NM_001164508.2(NEB):c.294+20T>C
|
|
|
|
NM_001164508.2(NEB):c.294+9C>A
|
|
|
|
NM_001164508.2(NEB):c.2942A>G (p.Glu981Gly)
|
rs1225494274
|
|
|
NM_001164508.2(NEB):c.2943+12G>C
|
|
|
|
NM_001164508.2(NEB):c.2943+13G>A
|
|
|
|
NM_001164508.2(NEB):c.2943+13G>C
|
|
|
|
NM_001164508.2(NEB):c.2943+15T>A
|
|
|
|
NM_001164508.2(NEB):c.2943+5dup
|
rs2099429370
|
|
|
NM_001164508.2(NEB):c.2943+9A>G
|
rs934975132
|
|
|
NM_001164508.2(NEB):c.2943G>A (p.Glu981=)
|
rs398124170
|
|
|
NM_001164508.2(NEB):c.2944-17T>C
|
|
|
|
NM_001164508.2(NEB):c.2944-20C>G
|
|
|
|
NM_001164508.2(NEB):c.2944-20_2944-19del
|
rs2099408915
|
|
|
NM_001164508.2(NEB):c.2944-5A>C
|
|
|
|
NM_001164508.2(NEB):c.295-11A>G
|
|
|
|
NM_001164508.2(NEB):c.295-16C>G
|
|
|
|
NM_001164508.2(NEB):c.295-19T>C
|
rs1012626849
|
|
|
NM_001164508.2(NEB):c.295-9T>C
|
|
|
|
NM_001164508.2(NEB):c.2951dup (p.Tyr984Ter)
|
|
|
|
NM_001164508.2(NEB):c.2952T>C (p.Tyr984=)
|
rs2148652653
|
|
|
NM_001164508.2(NEB):c.2953C>T (p.Arg985Cys)
|
|
|
|
NM_001164508.2(NEB):c.2967C>T (p.Asp989=)
|
rs2148652021
|
|
|
NM_001164508.2(NEB):c.296A>T (p.Asn99Ile)
|
|
|
|
NM_001164508.2(NEB):c.2970C>T (p.Thr990=)
|
rs747505579
|
|
|
NM_001164508.2(NEB):c.2975A>T (p.Lys992Met)
|
|
|
|
NM_001164508.2(NEB):c.2976G>A (p.Lys992=)
|
rs2148651722
|
|
|
NM_001164508.2(NEB):c.297T>C (p.Asn99=)
|
|
|
|
NM_001164508.2(NEB):c.2982C>G (p.Thr994=)
|
rs915137065
|
|
|
NM_001164508.2(NEB):c.2984C>T (p.Ser995Leu)
|
|
|
|
NM_001164508.2(NEB):c.2985G>T (p.Ser995=)
|
rs574544074
|
|
|
NM_001164508.2(NEB):c.2987T>A (p.Ile996Asn)
|
|
|
|
NM_001164508.2(NEB):c.2987T>C (p.Ile996Thr)
|
rs753691207
|
|
|
NM_001164508.2(NEB):c.2988T>C (p.Ile996=)
|
rs2148651197
|
|
|
NM_001164508.2(NEB):c.2998C>G (p.Pro1000Ala)
|
rs763910385
|
|
|
NM_001164508.2(NEB):c.3000A>G (p.Pro1000=)
|
rs2148650754
|
|
|
NM_001164508.2(NEB):c.3001A>G (p.Ile1001Val)
|
|
|
|
NM_001164508.2(NEB):c.3009A>G (p.Val1003=)
|
rs1246812656
|
|
|
NM_001164508.2(NEB):c.3022A>G (p.Asn1008Asp)
|
rs1576128802
|
|
|
NM_001164508.2(NEB):c.3024C>T (p.Asn1008=)
|
rs1273538969
|
|
|
NM_001164508.2(NEB):c.3025C>T (p.Gln1009Ter)
|
|
|
|
NM_001164508.2(NEB):c.3027G>A (p.Gln1009=)
|
rs2148649753
|
|
|
NM_001164508.2(NEB):c.3028G>A (p.Ala1010Thr)
|
|
|
|
NM_001164508.2(NEB):c.3028G>C (p.Ala1010Pro)
|
rs770003609
|
|
|
NM_001164508.2(NEB):c.3030C>A (p.Ala1010=)
|
rs2148649456
|
|
|
NM_001164508.2(NEB):c.3036G>A (p.Arg1012=)
|
rs2148649309
|
|
|
NM_001164508.2(NEB):c.3042+12T>C
|
rs2099408260
|
|
|
NM_001164508.2(NEB):c.3042+13_3042+15del
|
rs2099408213
|
|
|
NM_001164508.2(NEB):c.3042+14C>T
|
|
|
|
NM_001164508.2(NEB):c.3042+16A>G
|
|
|
|
NM_001164508.2(NEB):c.3042+1G>A
|
rs2099408391
|
|
|
NM_001164508.2(NEB):c.3042+1G>T
|
|
|
|
NM_001164508.2(NEB):c.3042+20A>G
|
|
|
|
NM_001164508.2(NEB):c.3042+3_3042+6del
|
rs2099408346
|
|
|
NM_001164508.2(NEB):c.3043-14T>G
|
|
|
|
NM_001164508.2(NEB):c.3043-16dup
|
rs760628422
|
|
|
NM_001164508.2(NEB):c.3043-17A>T
|
|
|
|
NM_001164508.2(NEB):c.3043-1G>A
|
rs113326313
|
|
|
NM_001164508.2(NEB):c.3043-8T>A
|
|
|
|
NM_001164508.2(NEB):c.3045C>T (p.Ile1015=)
|
rs773307085
|
|
|
NM_001164508.2(NEB):c.3046G>A (p.Ala1016Thr)
|
|
|
|
NM_001164508.2(NEB):c.3047C>T (p.Ala1016Val)
|
rs2148609477
|
|
|
NM_001164508.2(NEB):c.306G>A (p.Lys102=)
|
rs751951834
|
|
|
NM_001164508.2(NEB):c.306G>C (p.Lys102Asn)
|
|
|
|
NM_001164508.2(NEB):c.3071T>C (p.Ile1024Thr)
|
|
|
|
NM_001164508.2(NEB):c.3072T>A (p.Ile1024=)
|
rs1361252038
|
|
|
NM_001164508.2(NEB):c.3072T>C (p.Ile1024=)
|
rs1361252038
|
|
|
NM_001164508.2(NEB):c.3076C>T (p.His1026Tyr)
|
|
|
|
NM_001164508.2(NEB):c.307G>C (p.Glu103Gln)
|
|
|
|
NM_001164508.2(NEB):c.3084C>G (p.Tyr1028Ter)
|
rs2099402392
|
|
|
NM_001164508.2(NEB):c.3084C>T (p.Tyr1028=)
|
rs2099402392
|
|
|
NM_001164508.2(NEB):c.3085A>C (p.Asn1029His)
|
|
|
|
NM_001164508.2(NEB):c.3088C>T (p.Leu1030=)
|
|
|
|
NM_001164508.2(NEB):c.3096del (p.Asp1033fs)
|
|
|
|
NM_001164508.2(NEB):c.3098A>G (p.Asp1033Gly)
|
|
|
|
NM_001164508.2(NEB):c.3101T>C (p.Leu1034Pro)
|
|
|
|
NM_001164508.2(NEB):c.3102G>T (p.Leu1034=)
|
|
|
|
NM_001164508.2(NEB):c.3117G>A (p.Gln1039=)
|
rs2148607009
|
|
|
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup)
|
rs1288870299
|
|
|
NM_001164508.2(NEB):c.312G>A (p.Lys104=)
|
|
|
|
NM_001164508.2(NEB):c.3136A>G (p.Asn1046Asp)
|
rs200564629
|
|
|
NM_001164508.2(NEB):c.3136A>T (p.Asn1046Tyr)
|
rs200564629
|
|
|
NM_001164508.2(NEB):c.3141C>T (p.Ile1047=)
|
|
|
|
NM_001164508.2(NEB):c.3147+11G>A
|
|
|
|
NM_001164508.2(NEB):c.3147+12G>T
|
|
|
|
NM_001164508.2(NEB):c.3147+14C>T
|
|
|
|
NM_001164508.2(NEB):c.3147+19G>A
|
|
|
|
NM_001164508.2(NEB):c.3147+5G>T
|
|
|
|
NM_001164508.2(NEB):c.3147+8G>A
|
|
|
|
NM_001164508.2(NEB):c.3148-14C>A
|
|
|
|
NM_001164508.2(NEB):c.3148-19A>G
|
rs2148599601
|
|
|
NM_001164508.2(NEB):c.3148-3C>A
|
|
|
|
NM_001164508.2(NEB):c.3148-7C>A
|
|
|
|
NM_001164508.2(NEB):c.3148-8T>G
|
|
|
|
NM_001164508.2(NEB):c.3154T>C (p.Tyr1052His)
|
rs1553539456
|
|
|
NM_001164508.2(NEB):c.3156C>T (p.Tyr1052=)
|
rs1386755643
|
|
|
NM_001164508.2(NEB):c.3165C>G (p.Asp1055Glu)
|
|
|
|
NM_001164508.2(NEB):c.3175T>C (p.Leu1059=)
|
rs1449746588
|
|
|
NM_001164508.2(NEB):c.3179G>A (p.Ser1060Asn)
|
|
|
|
NM_001164508.2(NEB):c.3183G>C (p.Lys1061Asn)
|
|
|
|
NM_001164508.2(NEB):c.3186G>A (p.Lys1062=)
|
|
|
|
NM_001164508.2(NEB):c.3190T>A (p.Tyr1064Asn)
|
rs2148596836
|
|
|
NM_001164508.2(NEB):c.31G>T (p.Val11Leu)
|
|
|
|
NM_001164508.2(NEB):c.3204T>C (p.Thr1068=)
|
rs2148596361
|
|
|
NM_001164508.2(NEB):c.3207T>C (p.Asp1069=)
|
rs1419430871
|
|
|
NM_001164508.2(NEB):c.3209C>G (p.Ala1070Gly)
|
rs371710158
|
|
|
NM_001164508.2(NEB):c.3209C>T (p.Ala1070Val)
|
rs371710158
|
|
|
NM_001164508.2(NEB):c.3210G>T (p.Ala1070=)
|
|
|
|
NM_001164508.2(NEB):c.3219C>T (p.Ile1073=)
|
|
|
|
NM_001164508.2(NEB):c.321A>G (p.Lys107=)
|
rs2150799276
|
|
|
NM_001164508.2(NEB):c.3223G>A (p.Ala1075Thr)
|
|
|
|
NM_001164508.2(NEB):c.3230A>G (p.Lys1077Arg)
|
rs2099400877
|
|
|
NM_001164508.2(NEB):c.3235G>T (p.Ala1079Ser)
|
rs1576082029
|
|
|
NM_001164508.2(NEB):c.3238_3239insAACCTGCCA (p.Ala1079_Arg1080insLysProAla)
|
rs2099400833
|
|
|
NM_001164508.2(NEB):c.3241C>A (p.Gln1081Lys)
|
|
|
|
NM_001164508.2(NEB):c.3252T>C (p.Ser1084=)
|
rs1576081225
|
|
|
NM_001164508.2(NEB):c.3252_3255+3del
|
rs1559168230
|
|
|
NM_001164508.2(NEB):c.3255+16G>T
|
|
|
|
NM_001164508.2(NEB):c.3255+18C>T
|
|
|
|
NM_001164508.2(NEB):c.3255+1G>C
|
rs375628303
|
|
|
NM_001164508.2(NEB):c.3255+1G>T
|
rs375628303
|
|
|
NM_001164508.2(NEB):c.3255+9A>G
|
|
|
|
NM_001164508.2(NEB):c.3256-11G>A
|
|
|
|
NM_001164508.2(NEB):c.3256-11G>T
|
|
|
|
NM_001164508.2(NEB):c.3256-12T>C
|
|
|
|
NM_001164508.2(NEB):c.3256-15C>A
|
rs765679622
|
|
|
NM_001164508.2(NEB):c.3256-15C>T
|
|
|
|
NM_001164508.2(NEB):c.3256-19C>T
|
|
|
|
NM_001164508.2(NEB):c.3256-5A>C
|
|
|
|
NM_001164508.2(NEB):c.3264C>T (p.Tyr1088=)
|
|
|
|
NM_001164508.2(NEB):c.3264_3265del (p.Tyr1088_Lys1089delinsTer)
|
rs2099386637
|
|
|
NM_001164508.2(NEB):c.3267A>G (p.Lys1089=)
|
rs2148501395
|
|
|
NM_001164508.2(NEB):c.3270del (p.Asp1091fs)
|
rs2099386610
|
|
|
NM_001164508.2(NEB):c.3270dup (p.Asp1091fs)
|
|
|
|
NM_001164508.2(NEB):c.3271G>T (p.Asp1091Tyr)
|
|
|
|
NM_001164508.2(NEB):c.3286A>G (p.Lys1096Glu)
|
|
|
|
NM_001164508.2(NEB):c.329G>C (p.Gly110Ala)
|
|
|
|
NM_001164508.2(NEB):c.330A>G (p.Gly110=)
|
|
|
|
NM_001164508.2(NEB):c.3318A>G (p.Gln1106=)
|
|
|
|
NM_001164508.2(NEB):c.331C>T (p.Gln111Ter)
|
|
|
|
NM_001164508.2(NEB):c.3320A>T (p.Asp1107Val)
|
|
|
|
NM_001164508.2(NEB):c.3330A>G (p.Lys1110=)
|
|
|
|
NM_001164508.2(NEB):c.3331C>T (p.Leu1111=)
|
|
|
|
NM_001164508.2(NEB):c.333G>A (p.Gln111=)
|
|
|
|
NM_001164508.2(NEB):c.3342T>A (p.Tyr1114Ter)
|
|
|
|
NM_001164508.2(NEB):c.3362A>G (p.Gln1121Arg)
|
rs1559152642
|
|
|
NM_001164508.2(NEB):c.3363A>G (p.Gln1121=)
|
rs370560340
|
|
|
NM_001164508.2(NEB):c.3363A>T (p.Gln1121His)
|
|
|
|
NM_001164508.2(NEB):c.3366A>C (p.Ser1122=)
|
|
|
|
NM_001164508.2(NEB):c.3373G>T (p.Glu1125Ter)
|
|
|
|
NM_001164508.2(NEB):c.3378T>C (p.Tyr1126=)
|
rs2148497319
|
|
|
NM_001164508.2(NEB):c.3384del (p.Asp1129fs)
|
rs2099386045
|
|
|
NM_001164508.2(NEB):c.3389A>G (p.Tyr1130Cys)
|
|
|
|
NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)
|
|
|
|
NM_001164508.2(NEB):c.3394_3395insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGACTATGAGA (p.Lys1132delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysArgLeuTer)
|
|
|
|
NM_001164508.2(NEB):c.3396G>A (p.Lys1132=)
|
|
|
|
NM_001164508.2(NEB):c.3397A>G (p.Thr1133Ala)
|
rs1294520829
|
|
|
NM_001164508.2(NEB):c.3400_3401del (p.Lys1134fs)
|
rs2148495720
|
|
|
NM_001164508.2(NEB):c.3402G>A (p.Lys1134=)
|
rs1376146835
|
|
|
NM_001164508.2(NEB):c.3405C>T (p.Ser1135=)
|
rs2148495367
|
|
|
NM_001164508.2(NEB):c.3417G>A (p.Thr1139=)
|
rs372593815
|
|
|
NM_001164508.2(NEB):c.3417G>C (p.Thr1139=)
|
rs372593815
|
|
|
NM_001164508.2(NEB):c.3417G>T (p.Thr1139=)
|
rs372593815
|
|
|
NM_001164508.2(NEB):c.341C>T (p.Ala114Val)
|
|
|
|
NM_001164508.2(NEB):c.3420C>T (p.Pro1140=)
|
|
|
|
NM_001164508.2(NEB):c.3423T>C (p.His1141=)
|
|
|
|
NM_001164508.2(NEB):c.3428T>A (p.Met1143Lys)
|
rs1428000725
|
|
|
NM_001164508.2(NEB):c.3443C>A (p.Ala1148Glu)
|
rs200637566
|
|
|
NM_001164508.2(NEB):c.3444G>C (p.Ala1148=)
|
rs375569766
|
|
|
NM_001164508.2(NEB):c.3445G>T (p.Ala1149Ser)
|
rs752178904
|
|
|
NM_001164508.2(NEB):c.3447T>C (p.Ala1149=)
|
|
|
|
NM_001164508.2(NEB):c.3453A>G (p.Lys1151=)
|
|
|
|
NM_001164508.2(NEB):c.3456C>G (p.Ala1152=)
|
rs1020491664
|
|
|
NM_001164508.2(NEB):c.3459G>A (p.Gln1153=)
|
|
|
|
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs)
|
rs1463906422
|
|
|
NM_001164508.2(NEB):c.3474T>C (p.Asn1158=)
|
|
|
|
NM_001164508.2(NEB):c.3474T>G (p.Asn1158Lys)
|
|
|
|
NM_001164508.2(NEB):c.3477C>T (p.Val1159=)
|
rs2154210477
|
|
|
NM_001164508.2(NEB):c.3480C>T (p.Asn1160=)
|
|
|
|
NM_001164508.2(NEB):c.3495C>T (p.Leu1165=)
|
|
|
|
NM_001164508.2(NEB):c.3500A>G (p.His1167Arg)
|
rs2154210444
|
|
|
NM_001164508.2(NEB):c.3501T>C (p.His1167=)
|
|
|
|
NM_001164508.2(NEB):c.3504C>T (p.Tyr1168=)
|
|
|
|
NM_001164508.2(NEB):c.3510C>T (p.Tyr1170=)
|
|
|
|
NM_001164508.2(NEB):c.3516T>C (p.Pro1172=)
|
|
|
|
NM_001164508.2(NEB):c.3527A>G (p.Asp1176Gly)
|
|
|
|
NM_001164508.2(NEB):c.3529C>T (p.Leu1177=)
|
|
|
|
NM_001164508.2(NEB):c.352G>T (p.Asp118Tyr)
|
|
|
|
NM_001164508.2(NEB):c.3537G>C (p.Leu1179=)
|
|
|
|
NM_001164508.2(NEB):c.3541A>G (p.Lys1181Glu)
|
|
|
|
NM_001164508.2(NEB):c.3546C>T (p.Asn1182=)
|
|
|
|
NM_001164508.2(NEB):c.3551T>C (p.Met1184Thr)
|
rs1308063415
|
|
|
NM_001164508.2(NEB):c.3552G>A (p.Met1184Ile)
|
|
|
|
NM_001164508.2(NEB):c.3553C>T (p.Gln1185Ter)
|
|
|
|
NM_001164508.2(NEB):c.3562_3563del (p.Gln1187_Ser1188insTer)
|
rs2154210386
|
|
|
NM_001164508.2(NEB):c.3567+10A>G
|
|
|
|
NM_001164508.2(NEB):c.3567+1G>A
|
rs587780399
|
|
|
NM_001164508.2(NEB):c.3567+9C>T
|
rs900791990
|
|
|
NM_001164508.2(NEB):c.3568-15_3568-14insGCCCTCACTCCTCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
|
NM_001164508.2(NEB):c.3568-16T>C
|
|
|
|
NM_001164508.2(NEB):c.3568-4G>A
|
|
|
|
NM_001164508.2(NEB):c.3573C>T (p.Val1191=)
|
rs2154210026
|
|
|
NM_001164508.2(NEB):c.357T>G (p.Thr119=)
|
|
|
|
NM_001164508.2(NEB):c.3585C>T (p.Asp1195=)
|
rs773399820
|
|
|
NM_001164508.2(NEB):c.36+10A>T
|
rs751246882
|
|
|
NM_001164508.2(NEB):c.36+14A>C
|
|
|
|
NM_001164508.2(NEB):c.36+15_36+21del
|
|
|
|
NM_001164508.2(NEB):c.36+19A>G
|
|
|
|
NM_001164508.2(NEB):c.36+19del
|
|
|
|
NM_001164508.2(NEB):c.36+19dup
|
rs148527227
|
|
|
NM_001164508.2(NEB):c.36+1G>C
|
rs1553711195
|
|
|
NM_001164508.2(NEB):c.36+2dup
|
|
|
|
NM_001164508.2(NEB):c.36+4A>G
|
|
|
|
NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter)
|
rs748453057
|
|
|
NM_001164508.2(NEB):c.3612C>T (p.Gly1204=)
|
|
|
|
NM_001164508.2(NEB):c.3616A>G (p.Ile1206Val)
|
|
|
|
NM_001164508.2(NEB):c.3618T>C (p.Ile1206=)
|
|
|
|
NM_001164508.2(NEB):c.3630T>C (p.Ser1210=)
|
|
|
|
NM_001164508.2(NEB):c.3630T>G (p.Ser1210Arg)
|
|
|
|
NM_001164508.2(NEB):c.3636C>A (p.Asp1212Glu)
|
|
|
|
NM_001164508.2(NEB):c.363A>G (p.Glu121=)
|
rs1577944014
|
|
|
NM_001164508.2(NEB):c.3642A>G (p.Glu1214=)
|
rs2154209881
|
|
|
NM_001164508.2(NEB):c.3648del (p.Lys1218fs)
|
|
|
|
NM_001164508.2(NEB):c.3649A>T (p.Lys1217Ter)
|
|
|
|
NM_001164508.2(NEB):c.3653del (p.Lys1218fs)
|
|
|
|
NM_001164508.2(NEB):c.3662A>G (p.Asp1221Gly)
|
|
|
|
NM_001164508.2(NEB):c.3664G>T (p.Ala1222Ser)
|
|
|
|
NM_001164508.2(NEB):c.3664del (p.Ala1222fs)
|
|
|
|
NM_001164508.2(NEB):c.3669G>A (p.Leu1223=)
|
|
|
|
NM_001164508.2(NEB):c.3669G>C (p.Leu1223=)
|
rs762989771
|
|
|
NM_001164508.2(NEB):c.3669G>T (p.Leu1223=)
|
|
|
|
NM_001164508.2(NEB):c.3677A>G (p.Lys1226Arg)
|
rs2099381015
|
|
|
NM_001164508.2(NEB):c.3681G>A (p.Lys1227=)
|
rs2154209764
|
|
|
NM_001164508.2(NEB):c.3681G>T (p.Lys1227Asn)
|
|
|
|
NM_001164508.2(NEB):c.3690A>G (p.Gln1230=)
|
rs1575989207
|
|
|
NM_001164508.2(NEB):c.3691del (p.His1231fs)
|
|
|
|
NM_001164508.2(NEB):c.3698A>G (p.Asp1233Gly)
|
|
|
|
NM_001164508.2(NEB):c.37-10C>T
|
|
|
|
NM_001164508.2(NEB):c.37-13G>A
|
|
|
|
NM_001164508.2(NEB):c.37-15G>A
|
|
|
|
NM_001164508.2(NEB):c.37-19C>G
|
|
|
|
NM_001164508.2(NEB):c.37-1G>C
|
rs1428597732
|
|
|
NM_001164508.2(NEB):c.37-7T>C
|
rs2150995508
|
|
|
NM_001164508.2(NEB):c.3700A>G (p.Thr1234Ala)
|
|
|
|
NM_001164508.2(NEB):c.3702C>T (p.Thr1234=)
|
rs2099380409
|
|
|
NM_001164508.2(NEB):c.3705C>G (p.Leu1235=)
|
|
|
|
NM_001164508.2(NEB):c.3708A>G (p.Lys1236=)
|
rs1195608343
|
|
|
NM_001164508.2(NEB):c.3708A>T (p.Lys1236Asn)
|
|
|
|
NM_001164508.2(NEB):c.3713C>T (p.Thr1238Ile)
|
rs1311528896
|
|
|
NM_001164508.2(NEB):c.3714C>G (p.Thr1238=)
|
|
|
|
NM_001164508.2(NEB):c.3714C>T (p.Thr1238=)
|
|
|
|
NM_001164508.2(NEB):c.3715A>C (p.Ser1239Arg)
|
rs759109957
|
|
|
NM_001164508.2(NEB):c.3717C>G (p.Ser1239Arg)
|
rs765671775
|
|
|
NM_001164508.2(NEB):c.371G>C (p.Arg124Thr)
|
|
|
|
NM_001164508.2(NEB):c.3724G>A (p.Asp1242Asn)
|
|
|
|
NM_001164508.2(NEB):c.3729C>T (p.Ser1243=)
|
|
|
|
NM_001164508.2(NEB):c.3731del (p.Pro1244fs)
|
rs2154209597
|
|
|
NM_001164508.2(NEB):c.3732A>G (p.Pro1244=)
|
rs1282060717
|
|
|
NM_001164508.2(NEB):c.3739G>T (p.Val1247Phe)
|
|
|
|
NM_001164508.2(NEB):c.3744G>A (p.Gln1248=)
|
|
|
|
NM_001164508.2(NEB):c.3751C>G (p.Gln1251Glu)
|
|
|
|
NM_001164508.2(NEB):c.3759G>T (p.Thr1253=)
|
|
|
|
NM_001164508.2(NEB):c.375C>A (p.Ile125=)
|
rs753284331
|
|
|
NM_001164508.2(NEB):c.3762G>A (p.Lys1254=)
|
|
|
|
NM_001164508.2(NEB):c.3774+13A>G
|
rs2154209411
|
|
|
NM_001164508.2(NEB):c.3774+15del
|
|
|
|
NM_001164508.2(NEB):c.3774+17A>G
|
|
|
|
NM_001164508.2(NEB):c.3774+20G>A
|
|
|
|
NM_001164508.2(NEB):c.3774+4A>C
|
rs1026503983
|
|
|
NM_001164508.2(NEB):c.3774+8C>A
|
|
|
|
NM_001164508.2(NEB):c.3774+8C>T
|
rs994987584
|
|
|
NM_001164508.2(NEB):c.3775-15T>C
|
|
|
|
NM_001164508.2(NEB):c.3775-4G>A
|
rs1158268058
|
|
|
NM_001164508.2(NEB):c.3776T>C (p.Ile1259Thr)
|
rs1553522143
|
|
|
NM_001164508.2(NEB):c.3777C>A (p.Ile1259=)
|
|
|
|
NM_001164508.2(NEB):c.3778T>C (p.Leu1260=)
|
rs886038452
|
|
|
NM_001164508.2(NEB):c.3784A>G (p.Lys1262Glu)
|
|
|
|
NM_001164508.2(NEB):c.3786G>A (p.Lys1262=)
|
rs112229327
|
|
|
NM_001164508.2(NEB):c.3786G>T (p.Lys1262Asn)
|
|
|
|
NM_001164508.2(NEB):c.3788C>A (p.Ala1263Asp)
|
rs1575886894
|
|
|
NM_001164508.2(NEB):c.3789T>C (p.Ala1263=)
|
|
|
|
NM_001164508.2(NEB):c.3807A>C (p.Lys1269Asn)
|
|
|
|
NM_001164508.2(NEB):c.3807A>G (p.Lys1269=)
|
|
|
|
NM_001164508.2(NEB):c.3817A>G (p.Thr1273Ala)
|
|
|
|
NM_001164508.2(NEB):c.381A>G (p.Lys127=)
|
rs2150795979
|
|
|
NM_001164508.2(NEB):c.3827C>G (p.Pro1276Arg)
|
|
|
|
NM_001164508.2(NEB):c.3843del (p.Leu1282fs)
|
rs2154199737
|
|
|
NM_001164508.2(NEB):c.3846C>T (p.Leu1282=)
|
|
|
|
NM_001164508.2(NEB):c.3853A>G (p.Lys1285Glu)
|
|
|
|
NM_001164508.2(NEB):c.3855G>A (p.Lys1285=)
|
rs2154199724
|
|
|
NM_001164508.2(NEB):c.3858C>A (p.Cys1286Ter)
|
rs1386238241
|
|
|
NM_001164508.2(NEB):c.3861T>C (p.Asn1287=)
|
|
|
|
NM_001164508.2(NEB):c.3862G>T (p.Ala1288Ser)
|
|
|
|
NM_001164508.2(NEB):c.3864T>C (p.Ala1288=)
|
rs768145490
|
|
|
NM_001164508.2(NEB):c.3869A>G (p.Asn1290Ser)
|
|
|
|
NM_001164508.2(NEB):c.3871A>G (p.Ile1291Val)
|
|
|
|
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly)
|
rs1553521537
|
|
|
NM_001164508.2(NEB):c.3879+12C>T
|
|
|
|
NM_001164508.2(NEB):c.3879+2T>C
|
rs2099350888
|
|
|
NM_001164508.2(NEB):c.3879+2dup
|
rs2099350895
|
|
|
NM_001164508.2(NEB):c.3879C>T (p.Asp1293=)
|
|
|
|
NM_001164508.2(NEB):c.387A>G (p.Gln129=)
|
rs755228645
|
|
|
NM_001164508.2(NEB):c.3880-12dup
|
rs2099344412
|
|
|
NM_001164508.2(NEB):c.3880-20C>G
|
|
|
|
NM_001164508.2(NEB):c.3880-2A>G
|
rs1342507012
|
|
|
NM_001164508.2(NEB):c.3880-4C>G
|
rs1215078103
|
|
|
NM_001164508.2(NEB):c.3889A>T (p.Lys1297Ter)
|
|
|
|
NM_001164508.2(NEB):c.3892C>A (p.Arg1298=)
|
rs766892385
|
|
|
NM_001164508.2(NEB):c.3892C>T (p.Arg1298Trp)
|
|
|
|
NM_001164508.2(NEB):c.3893G>A (p.Arg1298Gln)
|
|
|
|
NM_001164508.2(NEB):c.3896A>T (p.Asp1299Val)
|
|
|
|
NM_001164508.2(NEB):c.3897T>C (p.Asp1299=)
|
rs2154198185
|
|
|
NM_001164508.2(NEB):c.3902A>G (p.Tyr1301Cys)
|
|
|
|
NM_001164508.2(NEB):c.3906C>T (p.Asp1302=)
|
rs2099344073
|
|
|
NM_001164508.2(NEB):c.3910A>G (p.Ile1304Val)
|
|
|
|
NM_001164508.2(NEB):c.3911T>A (p.Ile1304Lys)
|
|
|
|
NM_001164508.2(NEB):c.3918G>T (p.Lys1306Asn)
|
|
|
|
NM_001164508.2(NEB):c.3920G>A (p.Gly1307Asp)
|
|
|
|
NM_001164508.2(NEB):c.3924C>T (p.Asn1308=)
|
|
|
|
NM_001164508.2(NEB):c.3930G>A (p.Val1310=)
|
|
|
|
NM_001164508.2(NEB):c.3933G>A (p.Leu1311=)
|
|
|
|
NM_001164508.2(NEB):c.3938A>G (p.Asp1313Gly)
|
rs2154198103
|
|
|
NM_001164508.2(NEB):c.393A>G (p.Gln131=)
|
rs2150795278
|
|
|
NM_001164508.2(NEB):c.3940G>A (p.Ala1314Thr)
|
rs2154198100
|
|
|
NM_001164508.2(NEB):c.3943A>G (p.Ile1315Val)
|
|
|
|
NM_001164508.2(NEB):c.3943_3945delinsTGG (p.Ile1315Trp)
|
|
|
|
NM_001164508.2(NEB):c.394C>T (p.Leu132Phe)
|
rs2099787743
|
|
|
NM_001164508.2(NEB):c.3954T>C (p.Thr1318=)
|
rs2154198083
|
|
|
NM_001164508.2(NEB):c.3966A>G (p.Ala1322=)
|
|
|
|
NM_001164508.2(NEB):c.3969G>C (p.Ser1323=)
|
rs933068354
|
|
|
NM_001164508.2(NEB):c.3978T>A (p.Ile1326=)
|
|
|
|
NM_001164508.2(NEB):c.3987+10A>C
|
|
|
|
NM_001164508.2(NEB):c.3987+12T>G
|
|
|
|
NM_001164508.2(NEB):c.3987+17G>C
|
|
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
|
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG
|
rs786204576
|
|
|
NM_001164508.2(NEB):c.3987+7A>T
|
|
|
|
NM_001164508.2(NEB):c.3988-17C>T
|
|
|
|
NM_001164508.2(NEB):c.3988-19C>T
|
|
|
|
NM_001164508.2(NEB):c.3988-1G>A
|
rs1553517128
|
|
|
NM_001164508.2(NEB):c.3988-2A>G
|
rs924831918
|
|
|
NM_001164508.2(NEB):c.3988-4A>G
|
rs2154193957
|
|
|
NM_001164508.2(NEB):c.3988-7T>C
|
|
|
|
NM_001164508.2(NEB):c.3988-9C>T
|
rs753291655
|
|
|
NM_001164508.2(NEB):c.3990T>C (p.Tyr1330=)
|
rs2154193939
|
|
|
NM_001164508.2(NEB):c.3996C>G (p.Tyr1332Ter)
|
rs1559093497
|
|
|
NM_001164508.2(NEB):c.39C>G (p.Tyr13Ter)
|
|
|
|
NM_001164508.2(NEB):c.4008T>C (p.Tyr1336=)
|
rs2154193902
|
|
|
NM_001164508.2(NEB):c.4010A>G (p.Glu1337Gly)
|
rs921890762
|
|
|
NM_001164508.2(NEB):c.4011G>A (p.Glu1337=)
|
rs1314762146
|
|
|
NM_001164508.2(NEB):c.401A>G (p.Glu134Gly)
|
rs2150794998
|
|
|
NM_001164508.2(NEB):c.402+10A>G
|
rs1391326523
|
|
|
NM_001164508.2(NEB):c.402+11T>C
|
|
|
|
NM_001164508.2(NEB):c.402+12del
|
|
|
|
NM_001164508.2(NEB):c.402+13G>A
|
|
|
|
NM_001164508.2(NEB):c.402+1G>T
|
|
|
|
NM_001164508.2(NEB):c.402+4G>A
|
rs1162289427
|
|
|
NM_001164508.2(NEB):c.402+4_402+27del
|
|
|
|
NM_001164508.2(NEB):c.4027C>G (p.His1343Asp)
|
|
|
|
NM_001164508.2(NEB):c.4029T>A (p.His1343Gln)
|
|
|
|
NM_001164508.2(NEB):c.4029T>C (p.His1343=)
|
rs758866056
|
|
|
NM_001164508.2(NEB):c.403-13A>G
|
|
|
|
NM_001164508.2(NEB):c.403-15G>A
|
|
|
|
NM_001164508.2(NEB):c.403-16T>G
|
|
|
|
NM_001164508.2(NEB):c.403-17G>T
|
|
|
|
NM_001164508.2(NEB):c.403-18T>C
|
|
|
|
NM_001164508.2(NEB):c.403-1G>C
|
|
|
|
NM_001164508.2(NEB):c.403-2A>G
|
|
|
|
NM_001164508.2(NEB):c.403-6G>C
|
|
|
|
NM_001164508.2(NEB):c.403-6_405del
|
rs1553689774
|
|
|
NM_001164508.2(NEB):c.403-8T>C
|
rs1375474955
|
|
|
NM_001164508.2(NEB):c.403-9T>C
|
|
|
|
NM_001164508.2(NEB):c.4032G>A (p.Val1344=)
|
rs373748794
|
|
|
NM_001164508.2(NEB):c.4034G>A (p.Gly1345Asp)
|
|
|
|
NM_001164508.2(NEB):c.4042A>G (p.Ser1348Gly)
|
|
|
|
NM_001164508.2(NEB):c.4047C>G (p.Leu1349=)
|
|
|
|
NM_001164508.2(NEB):c.4047C>T (p.Leu1349=)
|
|
|
|
NM_001164508.2(NEB):c.4069del (p.His1357fs)
|
|
|
|
NM_001164508.2(NEB):c.4073A>G (p.Tyr1358Cys)
|
rs1223706560
|
|
|
NM_001164508.2(NEB):c.4075A>G (p.Met1359Val)
|
|
|
|
NM_001164508.2(NEB):c.4080T>C (p.Asn1360=)
|
rs766450256
|
|
|
NM_001164508.2(NEB):c.4090C>T (p.Leu1364=)
|
rs2154193747
|
|
|
NM_001164508.2(NEB):c.4091T>C (p.Leu1364Pro)
|
|
|
|
NM_001164508.2(NEB):c.4092G>A (p.Leu1364=)
|
|
|
|
NM_001164508.2(NEB):c.4092G>T (p.Leu1364=)
|
rs768820251
|
|
|
NM_001164508.2(NEB):c.4097C>A (p.Ser1366Tyr)
|
|
|
|
NM_001164508.2(NEB):c.4113G>A (p.Lys1371=)
|
|
|
|
NM_001164508.2(NEB):c.4119C>A (p.Asn1373Lys)
|
rs377653217
|
|
|
NM_001164508.2(NEB):c.4125G>A (p.Glu1375=)
|
rs199897201
|
|
|
NM_001164508.2(NEB):c.4128C>T (p.Asn1376=)
|
rs1340723785
|
|
|
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)
|
rs1057517360
|
|
|
NM_001164508.2(NEB):c.4131C>T (p.Thr1377=)
|
|
|
|
NM_001164508.2(NEB):c.4132A>T (p.Lys1378Ter)
|
rs2154193668
|
|
|
NM_001164508.2(NEB):c.4133A>G (p.Lys1378Arg)
|
|
|
|
NM_001164508.2(NEB):c.4137C>A (p.Thr1379=)
|
|
|
|
NM_001164508.2(NEB):c.4137C>T (p.Thr1379=)
|
rs1320711048
|
|
|
NM_001164508.2(NEB):c.413del (p.Arg138fs)
|
|
|
|
NM_001164508.2(NEB):c.4140C>T (p.Ser1380=)
|
|
|
|
NM_001164508.2(NEB):c.4144C>G (p.His1382Asp)
|
rs2099313352
|
|
|
NM_001164508.2(NEB):c.4145A>G (p.His1382Arg)
|
|
|
|
NM_001164508.2(NEB):c.4146T>C (p.His1382=)
|
|
|
|
NM_001164508.2(NEB):c.4148C>T (p.Thr1383Ile)
|
|
|
|
NM_001164508.2(NEB):c.4149C>A (p.Thr1383=)
|
|
|
|
NM_001164508.2(NEB):c.4151_4152insAGGAACACCAAAACCAGCTACCATACCCC (p.Asp1386fs)
|
|
|
|
NM_001164508.2(NEB):c.4154G>A (p.Gly1385Glu)
|
|
|
|
NM_001164508.2(NEB):c.4167C>T (p.Ser1389=)
|
rs772315688
|
|
|
NM_001164508.2(NEB):c.4185G>A (p.Met1395Ile)
|
|
|
|
NM_001164508.2(NEB):c.4186G>T (p.Ala1396Ser)
|
|
|
|
NM_001164508.2(NEB):c.4187C>T (p.Ala1396Val)
|
|
|
|
NM_001164508.2(NEB):c.4192G>T (p.Asp1398Tyr)
|
|
|
|
NM_001164508.2(NEB):c.4206T>C (p.Asn1402=)
|
|
|
|
NM_001164508.2(NEB):c.4209C>T (p.Val1403=)
|
rs1238068883
|
|
|
NM_001164508.2(NEB):c.4214A>G (p.Tyr1405Cys)
|
|
|
|
NM_001164508.2(NEB):c.4224A>G (p.Pro1408=)
|
rs2099312556
|
|
|
NM_001164508.2(NEB):c.422G>A (p.Gly141Asp)
|
rs973669056
|
|
|
NM_001164508.2(NEB):c.4235A>T (p.Tyr1412Phe)
|
|
|
|
NM_001164508.2(NEB):c.423T>G (p.Gly141=)
|
rs759036441
|
|
|
NM_001164508.2(NEB):c.4244T>A (p.Leu1415Gln)
|
rs2099312411
|
|
|
NM_001164508.2(NEB):c.4251C>A (p.Asp1417Glu)
|
|
|
|
NM_001164508.2(NEB):c.4256T>C (p.Met1419Thr)
|
|
|
|
NM_001164508.2(NEB):c.4264G>C (p.Glu1422Gln)
|
rs921972170
|
|
|
NM_001164508.2(NEB):c.4265A>C (p.Glu1422Ala)
|
|
|
|
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu)
|
rs200590080
|
|
|
NM_001164508.2(NEB):c.426T>C (p.Asp142=)
|
rs200590080
|
|
|
NM_001164508.2(NEB):c.4272G>A (p.Thr1424=)
|
rs35654397
|
|
|
NM_001164508.2(NEB):c.4284T>C (p.Asn1428=)
|
rs2154193351
|
|
|
NM_001164508.2(NEB):c.4287A>G (p.Gln1429=)
|
rs1575774268
|
|
|
NM_001164508.2(NEB):c.4299+11G>T
|
|
|
|
NM_001164508.2(NEB):c.4299+13A>G
|
|
|
|
NM_001164508.2(NEB):c.4299+18C>T
|
|
|
|
NM_001164508.2(NEB):c.42C>T (p.Tyr14=)
|
rs2150995013
|
|
|
NM_001164508.2(NEB):c.4300-10C>T
|
rs2154190857
|
|
|
NM_001164508.2(NEB):c.4300-11C>T
|
|
|
|
NM_001164508.2(NEB):c.4300-12A>G
|
|
|
|
NM_001164508.2(NEB):c.4300-15C>T
|
rs1342629658
|
|
|
NM_001164508.2(NEB):c.4300-18T>G
|
|
|
|
NM_001164508.2(NEB):c.4300-19T>C
|
|
|
|
NM_001164508.2(NEB):c.4300-1G>A
|
|
|
|
NM_001164508.2(NEB):c.4300-1G>C
|
|
|
|
NM_001164508.2(NEB):c.4300-3C>T
|
rs2154190807
|
|
|
NM_001164508.2(NEB):c.4300-4A>T
|
rs762231656
|
|
|
NM_001164508.2(NEB):c.4300-7T>C
|
rs1575736447
|
|
|
NM_001164508.2(NEB):c.4300-9C>T
|
rs2099282016
|
|
|
NM_001164508.2(NEB):c.4302T>C (p.Asn1434=)
|
rs2154190788
|
|
|
NM_001164508.2(NEB):c.4304T>C (p.Val1435Ala)
|
|
|
|
NM_001164508.2(NEB):c.4305G>T (p.Val1435=)
|
rs111241479
|
|
|
NM_001164508.2(NEB):c.4314C>T (p.Asp1438=)
|
rs1419373548
|
|
|
NM_001164508.2(NEB):c.4317G>A (p.Glu1439=)
|
|
|
|
NM_001164508.2(NEB):c.4323C>T (p.Asn1441=)
|
|
|
|
NM_001164508.2(NEB):c.4325G>T (p.Ser1442Ile)
|
|
|
|
NM_001164508.2(NEB):c.4329C>T (p.Phe1443=)
|
rs2099280911
|
|
|
NM_001164508.2(NEB):c.4330T>C (p.Leu1444=)
|
|
|
|
NM_001164508.2(NEB):c.4332G>A (p.Leu1444=)
|
|
|
|
NM_001164508.2(NEB):c.4335G>A (p.Lys1445=)
|
|
|
|
NM_001164508.2(NEB):c.4338C>T (p.Gly1446=)
|
|
|
|
NM_001164508.2(NEB):c.4339A>G (p.Ile1447Val)
|
|
|
|
NM_001164508.2(NEB):c.4342G>A (p.Gly1448Arg)
|
|
|
|
NM_001164508.2(NEB):c.4347G>A (p.Trp1449Ter)
|
rs2154190685
|
|
|
NM_001164508.2(NEB):c.4350C>T (p.Ile1450=)
|
rs1218846191
|
|
|
NM_001164508.2(NEB):c.4354A>C (p.Ile1452Leu)
|
|
|
|
NM_001164508.2(NEB):c.4354A>G (p.Ile1452Val)
|
|
|
|
NM_001164508.2(NEB):c.4355T>C (p.Ile1452Thr)
|
|
|
|
NM_001164508.2(NEB):c.4362C>T (p.Ser1454=)
|
rs2154190643
|
|
|
NM_001164508.2(NEB):c.4372G>A (p.Glu1458Lys)
|
rs1559073472
|
|
|
NM_001164508.2(NEB):c.4377G>A (p.Lys1459=)
|
|
|
|
NM_001164508.2(NEB):c.437C>T (p.Thr146Ile)
|
|
|
|
NM_001164508.2(NEB):c.4381A>C (p.Lys1461Gln)
|
|
|
|
NM_001164508.2(NEB):c.4384A>G (p.Lys1462Glu)
|
|
|
|
NM_001164508.2(NEB):c.4389A>G (p.Ala1463=)
|
|
|
|
NM_001164508.2(NEB):c.4392C>A (p.Gly1464=)
|
|
|
|
NM_001164508.2(NEB):c.4398A>T (p.Ala1466=)
|
rs368136951
|
|
|
NM_001164508.2(NEB):c.43A>G (p.Thr15Ala)
|
rs918736685
|
|
|
NM_001164508.2(NEB):c.4404T>C (p.Asn1468=)
|
|
|
|
NM_001164508.2(NEB):c.4408A>C (p.Arg1470=)
|
|
|
|
NM_001164508.2(NEB):c.4412A>C (p.Lys1471Thr)
|
|
|
|
NM_001164508.2(NEB):c.4415A>G (p.Tyr1472Cys)
|
|
|
|
NM_001164508.2(NEB):c.4417C>T (p.Arg1473Ter)
|
rs2099279723
|
|
|
NM_001164508.2(NEB):c.441A>G (p.Ile147Met)
|
rs2099785798
|
|
|
NM_001164508.2(NEB):c.4424A>G (p.His1475Arg)
|
rs2154190465
|
|
|
NM_001164508.2(NEB):c.4432A>G (p.Thr1478Ala)
|
rs2099279650
|
|
|
NM_001164508.2(NEB):c.4437C>G (p.Val1479=)
|
rs374440932
|
|
|
NM_001164508.2(NEB):c.4439A>C (p.Lys1480Thr)
|
|
|
|
NM_001164508.2(NEB):c.4448G>A (p.Ser1483Asn)
|
rs1417148362
|
|
|
NM_001164508.2(NEB):c.445del (p.His149fs)
|
rs2150762300
|
|
|
NM_001164508.2(NEB):c.4461C>T (p.Ser1487=)
|
rs753328294
|
|
|
NM_001164508.2(NEB):c.4462A>G (p.Met1488Val)
|
|
|
|
NM_001164508.2(NEB):c.4464G>A (p.Met1488Ile)
|
|
|
|
NM_001164508.2(NEB):c.4466G>T (p.Gly1489Val)
|
rs74482326
|
|
|
NM_001164508.2(NEB):c.446A>G (p.His149Arg)
|
rs2150762228
|
|
|
NM_001164508.2(NEB):c.4473G>A (p.Val1491=)
|
rs2154190350
|
|
|
NM_001164508.2(NEB):c.4476G>A (p.Leu1492=)
|
rs2154190347
|
|
|
NM_001164508.2(NEB):c.4477G>C (p.Ala1493Pro)
|
|
|
|
NM_001164508.2(NEB):c.4485dup (p.Asn1496Ter)
|
rs2154190331
|
|
|
NM_001164508.2(NEB):c.4488C>T (p.Asn1496=)
|
rs925626079
|
|
|
NM_001164508.2(NEB):c.4498C>T (p.Leu1500=)
|
|
|
|
NM_001164508.2(NEB):c.4500A>G (p.Leu1500=)
|
|
|
|
NM_001164508.2(NEB):c.4506+17C>A
|
|
|
|
NM_001164508.2(NEB):c.4506+17C>G
|
|
|
|
NM_001164508.2(NEB):c.4506+18A>G
|
|
|
|
NM_001164508.2(NEB):c.4506+1G>A
|
rs112517981
|
|
|
NM_001164508.2(NEB):c.4506+2T>C
|
|
|
|
NM_001164508.2(NEB):c.4506+4A>G
|
|
|
|
NM_001164508.2(NEB):c.4506+8C>A
|
|
|
|
NM_001164508.2(NEB):c.4507-17G>A
|
|
|
|
NM_001164508.2(NEB):c.4507-18T>C
|
|
|
|
NM_001164508.2(NEB):c.4507-1G>A
|
rs2154185810
|
|
|
NM_001164508.2(NEB):c.4507-2A>C
|
rs1575668113
|
|
|
NM_001164508.2(NEB):c.4507-2A>G
|
rs1575668113
|
|
|
NM_001164508.2(NEB):c.4507-3del
|
rs767772701
|
|
|
NM_001164508.2(NEB):c.4507-5T>A
|
|
|
|
NM_001164508.2(NEB):c.450A>G (p.Val150=)
|
rs2150761812
|
|
|
NM_001164508.2(NEB):c.4520T>G (p.Val1507Gly)
|
|
|
|
NM_001164508.2(NEB):c.4523A>G (p.Glu1508Gly)
|
|
|
|
NM_001164508.2(NEB):c.4526G>A (p.Gly1509Glu)
|
rs2154185771
|
|
|
NM_001164508.2(NEB):c.452A>G (p.Asp151Gly)
|
|
|
|
NM_001164508.2(NEB):c.4530G>A (p.Glu1510=)
|
|
|
|
NM_001164508.2(NEB):c.4534C>T (p.Leu1512=)
|
|
|
|
NM_001164508.2(NEB):c.4535_4536del (p.Leu1512fs)
|
rs2099254893
|
|
|
NM_001164508.2(NEB):c.4539G>A (p.Lys1513=)
|
|
|
|
NM_001164508.2(NEB):c.4550del (p.Thr1517fs)
|
rs2154185730
|
|
|
NM_001164508.2(NEB):c.4550dup (p.Ile1518fs)
|
|
|
|
NM_001164508.2(NEB):c.4552A>G (p.Ile1518Val)
|
|
|
|
NM_001164508.2(NEB):c.4566G>A (p.Leu1522=)
|
rs752174970
|
|
|
NM_001164508.2(NEB):c.4566G>T (p.Leu1522Phe)
|
|
|
|
NM_001164508.2(NEB):c.4568C>T (p.Pro1523Leu)
|
|
|
|
NM_001164508.2(NEB):c.4572G>A (p.Gln1524=)
|
rs766856587
|
|
|
NM_001164508.2(NEB):c.4573T>C (p.Phe1525Leu)
|
|
|
|
NM_001164508.2(NEB):c.4575T>C (p.Phe1525=)
|
rs2154185657
|
|
|
NM_001164508.2(NEB):c.4583C>T (p.Ala1528Val)
|
rs1023227996
|
|
|
NM_001164508.2(NEB):c.4587A>G (p.Lys1529=)
|
|
|
|
NM_001164508.2(NEB):c.4590C>T (p.Val1530=)
|
rs1249115083
|
|
|
NM_001164508.2(NEB):c.4594G>A (p.Ala1532Thr)
|
|
|
|
NM_001164508.2(NEB):c.4595C>A (p.Ala1532Asp)
|
rs1456966310
|
|
|
NM_001164508.2(NEB):c.459A>G (p.Lys153=)
|
rs2150761198
|
|
|
NM_001164508.2(NEB):c.4602C>T (p.Asn1534=)
|
|
|
|
NM_001164508.2(NEB):c.4603A>G (p.Met1535Val)
|
|
|
|
NM_001164508.2(NEB):c.4611+11G>T
|
|
|
|
NM_001164508.2(NEB):c.4611+19G>A
|
|
|
|
NM_001164508.2(NEB):c.4611+1G>A
|
rs1233792020
|
|
|
NM_001164508.2(NEB):c.4611+20C>T
|
|
|
|
NM_001164508.2(NEB):c.4611T>C (p.Asp1537=)
|
rs2099254265
|
|
|
NM_001164508.2(NEB):c.4612-17C>G
|
|
|
|
NM_001164508.2(NEB):c.4612-4G>C
|
rs2154183010
|
|
|
NM_001164508.2(NEB):c.4612-5dup
|
|
|
|
NM_001164508.2(NEB):c.4612-7T>C
|
rs2154183040
|
|
|
NM_001164508.2(NEB):c.4623del (p.Ala1542fs)
|
rs1559039815
|
|
|
NM_001164508.2(NEB):c.4629T>C (p.Asp1543=)
|
rs747277690
|
|
|
NM_001164508.2(NEB):c.4631G>A (p.Trp1544Ter)
|
|
|
|
NM_001164508.2(NEB):c.4641C>T (p.Thr1547=)
|
|
|
|
NM_001164508.2(NEB):c.4646_4647del (p.Ala1549fs)
|
|
|
|
NM_001164508.2(NEB):c.4650G>A (p.Lys1550=)
|
rs1180613075
|
|
|
NM_001164508.2(NEB):c.4652G>A (p.Gly1551Asp)
|
rs2099240158
|
|
|
NM_001164508.2(NEB):c.4652del (p.Gly1551fs)
|
rs1553502168
|
|
|
NM_001164508.2(NEB):c.4653C>T (p.Gly1551=)
|
|
|
|
NM_001164508.2(NEB):c.4662G>C (p.Leu1554Phe)
|
|
|
|
NM_001164508.2(NEB):c.4671T>C (p.Asp1557=)
|
|
|
|
NM_001164508.2(NEB):c.4677C>T (p.Ile1559=)
|
|
|
|
NM_001164508.2(NEB):c.4680A>G (p.Pro1560=)
|
|
|
|
NM_001164508.2(NEB):c.4684G>T (p.Val1562Phe)
|
|
|
|
NM_001164508.2(NEB):c.4685T>C (p.Val1562Ala)
|
|
|
|
NM_001164508.2(NEB):c.4686T>C (p.Val1562=)
|
rs2154182813
|
|
|
NM_001164508.2(NEB):c.4694A>C (p.Lys1565Thr)
|
|
|
|
NM_001164508.2(NEB):c.4703G>A (p.Arg1568Lys)
|
|
|
|
NM_001164508.2(NEB):c.4707T>C (p.Asn1569=)
|
rs2154182790
|
|
|
NM_001164508.2(NEB):c.4719+18G>A
|
|
|
|
NM_001164508.2(NEB):c.4719+19T>C
|
|
|
|
NM_001164508.2(NEB):c.4719+2T>A
|
|
|
|
NM_001164508.2(NEB):c.4719+8T>C
|
|
|
|
NM_001164508.2(NEB):c.471T>C (p.Ile157=)
|
rs1269882058
|
|
|
NM_001164508.2(NEB):c.4720-12G>C
|
|
|
|
NM_001164508.2(NEB):c.4720-17C>T
|
rs2154179318
|
|
|
NM_001164508.2(NEB):c.4720-4A>T
|
rs753231552
|
|
|
NM_001164508.2(NEB):c.4720-6A>T
|
rs756852826
|
|
|
NM_001164508.2(NEB):c.4722C>T (p.Cys1574=)
|
|
|
|
NM_001164508.2(NEB):c.4725A>C (p.Lys1575Asn)
|
|
|
|
NM_001164508.2(NEB):c.4725dup (p.Tyr1576fs)
|
|
|
|
NM_001164508.2(NEB):c.4734G>A (p.Glu1578=)
|
rs2154179248
|
|
|
NM_001164508.2(NEB):c.4735G>A (p.Ala1579Thr)
|
|
|
|
NM_001164508.2(NEB):c.4736C>T (p.Ala1579Val)
|
rs751602407
|
|
|
NM_001164508.2(NEB):c.4738T>C (p.Tyr1580His)
|
rs2154179233
|
|
|
NM_001164508.2(NEB):c.4740C>A (p.Tyr1580Ter)
|
rs766168868
|
|
|
NM_001164508.2(NEB):c.4751_4752del (p.Lys1584fs)
|
|
|
|
NM_001164508.2(NEB):c.4761A>G (p.Gln1587=)
|
|
|
|
NM_001164508.2(NEB):c.4764T>C (p.Val1588=)
|
rs2154179192
|
|
|
NM_001164508.2(NEB):c.476A>G (p.His159Arg)
|
|
|
|
NM_001164508.2(NEB):c.4773C>G (p.Leu1591=)
|
rs768945047
|
|
|
NM_001164508.2(NEB):c.4773C>T (p.Leu1591=)
|
rs768945047
|
|
|
NM_001164508.2(NEB):c.4775G>C (p.Ser1592Thr)
|
|
|
|
NM_001164508.2(NEB):c.4776T>C (p.Ser1592=)
|
|
|
|
NM_001164508.2(NEB):c.477T>C (p.His159=)
|
rs2099785711
|
|
|
NM_001164508.2(NEB):c.47A>G (p.Glu16Gly)
|
|
|
|
NM_001164508.2(NEB):c.4802A>G (p.His1601Arg)
|
|
|
|
NM_001164508.2(NEB):c.4806C>T (p.Tyr1602=)
|
rs2154179146
|
|
|
NM_001164508.2(NEB):c.4807A>G (p.Met1603Val)
|
|
|
|
NM_001164508.2(NEB):c.480A>G (p.Ala160=)
|
|
|
|
NM_001164508.2(NEB):c.4812T>C (p.Asn1604=)
|
|
|
|
NM_001164508.2(NEB):c.4819A>G (p.Lys1607Glu)
|
|
|
|
NM_001164508.2(NEB):c.481A>G (p.Lys161Glu)
|
rs1440684786
|
|
|
NM_001164508.2(NEB):c.4828T>C (p.Ser1610Pro)
|
|
|
|
NM_001164508.2(NEB):c.4833T>C (p.Asp1611=)
|
rs1413754733
|
|
|
NM_001164508.2(NEB):c.4834C>A (p.Arg1612Ser)
|
rs200545007
|
|
|
NM_001164508.2(NEB):c.4835G>C (p.Arg1612Pro)
|
|
|
|
NM_001164508.2(NEB):c.4835G>T (p.Arg1612Leu)
|
rs534531948
|
|
|
NM_001164508.2(NEB):c.4842C>G (p.Tyr1614Ter)
|
rs2154179061
|
|
|
NM_001164508.2(NEB):c.4843A>G (p.Lys1615Glu)
|
rs1237432906
|
|
|
NM_001164508.2(NEB):c.4843A>T (p.Lys1615Ter)
|
rs1237432906
|
|
|
NM_001164508.2(NEB):c.4847A>G (p.Lys1616Arg)
|
|
|
|
NM_001164508.2(NEB):c.4848G>A (p.Lys1616=)
|
rs958645221
|
|
|
NM_001164508.2(NEB):c.4850G>A (p.Gly1617Asp)
|
|
|
|
NM_001164508.2(NEB):c.4851C>T (p.Gly1617=)
|
|
|
|
NM_001164508.2(NEB):c.4853A>G (p.Tyr1618Cys)
|
rs759773612
|
|
|
NM_001164508.2(NEB):c.4854T>C (p.Tyr1618=)
|
rs2154179019
|
|
|
NM_001164508.2(NEB):c.4857A>G (p.Glu1619=)
|
rs1313191028
|
|
|
NM_001164508.2(NEB):c.4868C>G (p.Thr1623Ser)
|
|
|
|
NM_001164508.2(NEB):c.4878C>T (p.His1626=)
|
rs774544008
|
|
|
NM_001164508.2(NEB):c.4880C>T (p.Thr1627Ile)
|
rs1651215974
|
|
|
NM_001164508.2(NEB):c.4884T>A (p.Pro1628=)
|
|
|
|
NM_001164508.2(NEB):c.4884T>G (p.Pro1628=)
|
rs1041760075
|
|
|
NM_001164508.2(NEB):c.489G>A (p.Val163=)
|
rs2150759969
|
|
|
NM_001164508.2(NEB):c.4908T>C (p.Ala1636=)
|
rs747601206
|
|
|
NM_001164508.2(NEB):c.4924del (p.Glu1642fs)
|
|
|
|
NM_001164508.2(NEB):c.4926G>A (p.Glu1642=)
|
rs2154178922
|
|
|
NM_001164508.2(NEB):c.4929T>A (p.Val1643=)
|
rs2154178905
|
|
|
NM_001164508.2(NEB):c.492G>T (p.Ser164=)
|
rs371015050
|
|
|
NM_001164508.2(NEB):c.4932C>A (p.Ala1644=)
|
rs2154178892
|
|
|
NM_001164508.2(NEB):c.4932C>T (p.Ala1644=)
|
|
|
|
NM_001164508.2(NEB):c.4933A>G (p.Thr1645Ala)
|
|
|
|
NM_001164508.2(NEB):c.4934C>A (p.Thr1645Asn)
|
|
|
|
NM_001164508.2(NEB):c.4935C>T (p.Thr1645=)
|
rs2154178884
|
|
|
NM_001164508.2(NEB):c.4937A>G (p.Asn1646Ser)
|
|
|
|
NM_001164508.2(NEB):c.4938C>A (p.Asn1646Lys)
|
|
|
|
NM_001164508.2(NEB):c.493C>T (p.Gln165Ter)
|
rs2099785680
|
|
|
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del)
|
rs770192528
|
|
|
NM_001164508.2(NEB):c.4956A>C (p.Ser1652=)
|
|
|
|
NM_001164508.2(NEB):c.4960C>A (p.His1654Asn)
|
rs2154178833
|
|
|
NM_001164508.2(NEB):c.4962C>T (p.His1654=)
|
rs759709375
|
|
|
NM_001164508.2(NEB):c.4964A>G (p.His1655Arg)
|
rs2099214775
|
|
|
NM_001164508.2(NEB):c.4965C>T (p.His1655=)
|
rs1575591786
|
|
|
NM_001164508.2(NEB):c.496_499del (p.Gln166fs)
|
rs1340063197
|
|
|
NM_001164508.2(NEB):c.4970C>G (p.Thr1657Ser)
|
|
|
|
NM_001164508.2(NEB):c.4972C>T (p.Leu1658Phe)
|
|
|
|
NM_001164508.2(NEB):c.4973T>A (p.Leu1658His)
|
|
|
|
NM_001164508.2(NEB):c.4975C>T (p.Leu1659=)
|
|
|
|
NM_001164508.2(NEB):c.4977G>A (p.Leu1659=)
|
|
|
|
NM_001164508.2(NEB):c.4978C>T (p.Pro1660Ser)
|
rs776231831
|
|
|
NM_001164508.2(NEB):c.4980C>G (p.Pro1660=)
|
rs142074817
|
|
|
NM_001164508.2(NEB):c.4981G>A (p.Asp1661Asn)
|
|
|
|
NM_001164508.2(NEB):c.4982A>C (p.Asp1661Ala)
|
|
|
|
NM_001164508.2(NEB):c.4985C>A (p.Ala1662Asp)
|
rs2154178777
|
|
|
NM_001164508.2(NEB):c.4987T>A (p.Leu1663Met)
|
rs2154178771
|
|
|
NM_001164508.2(NEB):c.498A>G (p.Gln166=)
|
|
|
|
NM_001164508.2(NEB):c.498_507+18del
|
|
|
|
NM_001164508.2(NEB):c.4998G>A (p.Glu1666=)
|
|
|
|
NM_001164508.2(NEB):c.499G>C (p.Val167Leu)
|
|
|
|
NM_001164508.2(NEB):c.5004C>T (p.Ser1668=)
|
|
|
|
NM_001164508.2(NEB):c.5013C>A (p.Ala1671=)
|
rs745620924
|
|
|
NM_001164508.2(NEB):c.5013C>G (p.Ala1671=)
|
|
|
|
NM_001164508.2(NEB):c.5013C>T (p.Ala1671=)
|
rs745620924
|
|
|
NM_001164508.2(NEB):c.501C>T (p.Val167=)
|
|
|
|
NM_001164508.2(NEB):c.5023C>T (p.Gln1675Ter)
|
|
|
|
NM_001164508.2(NEB):c.5024A>G (p.Gln1675Arg)
|
rs2099214265
|
|
|
NM_001164508.2(NEB):c.502A>G (p.Ser168Gly)
|
|
|
|
NM_001164508.2(NEB):c.5030A>G (p.Asp1677Gly)
|
|
|
|
NM_001164508.2(NEB):c.5031+11G>C
|
|
|
|
NM_001164508.2(NEB):c.5031+11G>T
|
|
|
|
NM_001164508.2(NEB):c.5031+15C>T
|
|
|
|
NM_001164508.2(NEB):c.5031+20T>C
|
|
|
|
NM_001164508.2(NEB):c.5031+2T>C
|
rs2154178700
|
|
|
NM_001164508.2(NEB):c.5031+8C>G
|
rs2154178671
|
|
|
NM_001164508.2(NEB):c.5031+8C>T
|
rs2154178671
|
|
|
NM_001164508.2(NEB):c.5032-13del
|
rs148862132
|
|
|
NM_001164508.2(NEB):c.5032-13dup
|
rs148862132
|
|
|
NM_001164508.2(NEB):c.5032-16T>C
|
|
|
|
NM_001164508.2(NEB):c.5032-19T>A
|
rs2154177473
|
|
|
NM_001164508.2(NEB):c.5032-9A>T
|
|
|
|
NM_001164508.2(NEB):c.5034T>C (p.Asn1678=)
|
rs2099204137
|
|
|
NM_001164508.2(NEB):c.5037G>A (p.Leu1679=)
|
rs778634159
|
|
|
NM_001164508.2(NEB):c.5037G>C (p.Leu1679=)
|
rs778634159
|
|
|
NM_001164508.2(NEB):c.5039_5044del (p.Tyr1680_Lys1681del)
|
rs1300563797
|
|
|
NM_001164508.2(NEB):c.5049C>T (p.Asp1683=)
|
rs777670525
|
|
|
NM_001164508.2(NEB):c.504T>C (p.Ser168=)
|
|
|
|
NM_001164508.2(NEB):c.5055C>A (p.Thr1685=)
|
rs1575578013
|
|
|
NM_001164508.2(NEB):c.5058T>C (p.Asn1686=)
|
rs374877131
|
|
|
NM_001164508.2(NEB):c.507+11G>T
|
|
|
|
NM_001164508.2(NEB):c.507+15T>C
|
|
|
|
NM_001164508.2(NEB):c.507+18A>T
|
|
|
|
NM_001164508.2(NEB):c.507+2T>C
|
|
|
|
NM_001164508.2(NEB):c.507+8A>G
|
rs2150758525
|
|
|
NM_001164508.2(NEB):c.5070G>T (p.Gly1690=)
|
|
|
|
NM_001164508.2(NEB):c.5074G>A (p.Gly1692Ser)
|
rs764638678
|
|
|
NM_001164508.2(NEB):c.508-10T>C
|
rs1577888620
|
|
|
NM_001164508.2(NEB):c.508-10T>G
|
rs1577888620
|
|
|
NM_001164508.2(NEB):c.508-19C>T
|
|
|
|
NM_001164508.2(NEB):c.508-1G>A
|
|
|
|
NM_001164508.2(NEB):c.508-4C>T
|
rs2099784169
|
|
|
NM_001164508.2(NEB):c.508-5T>C
|
rs760986524
|
|
|
NM_001164508.2(NEB):c.508-6G>A
|
rs374227241
|
|
|
NM_001164508.2(NEB):c.508-6G>T
|
rs374227241
|
|
|
NM_001164508.2(NEB):c.5085C>T (p.Pro1695=)
|
rs2154177282
|
|
|
NM_001164508.2(NEB):c.5086A>G (p.Ile1696Val)
|
|
|
|
NM_001164508.2(NEB):c.5088A>C (p.Ile1696=)
|
rs2154177269
|
|
|
NM_001164508.2(NEB):c.5091G>A (p.Glu1697=)
|
rs1349969572
|
|
|
NM_001164508.2(NEB):c.5094C>G (p.Ser1698=)
|
|
|
|
NM_001164508.2(NEB):c.5094C>T (p.Ser1698=)
|
rs2154177256
|
|
|
NM_001164508.2(NEB):c.5100G>A (p.Glu1700=)
|
rs2099203382
|
|
|
NM_001164508.2(NEB):c.5104G>A (p.Glu1702Lys)
|
|
|
|
NM_001164508.2(NEB):c.5109G>A (p.Lys1703=)
|
|
|
|
NM_001164508.2(NEB):c.5115G>A (p.Lys1705=)
|
rs2154177219
|
|
|
NM_001164508.2(NEB):c.5118A>G (p.Lys1706=)
|
rs2154177215
|
|
|
NM_001164508.2(NEB):c.5120C>A (p.Ala1707Glu)
|
rs1575576650
|
|
|
NM_001164508.2(NEB):c.5132T>C (p.Leu1711Pro)
|
rs2099203051
|
|
|
NM_001164508.2(NEB):c.5136_5139del (p.Ser1712fs)
|
|
|
|
NM_001164508.2(NEB):c.513A>G (p.Leu171=)
|
rs2150733016
|
|
|
NM_001164508.2(NEB):c.5140AAG[1] (p.Lys1715del)
|
rs1553492424
|
|
|
NM_001164508.2(NEB):c.5150G>A (p.Arg1717His)
|
|
|
|
NM_001164508.2(NEB):c.5150G>T (p.Arg1717Leu)
|
rs747091795
|
|
|
NM_001164508.2(NEB):c.5151C>A (p.Arg1717=)
|
|
|
|
NM_001164508.2(NEB):c.5153A>T (p.Gln1718Leu)
|
rs1064796520
|
|
|
NM_001164508.2(NEB):c.5160C>A (p.Pro1720=)
|
rs377168964
|
|
|
NM_001164508.2(NEB):c.5160C>G (p.Pro1720=)
|
rs377168964
|
|
|
NM_001164508.2(NEB):c.5170_5172del (p.Lys1724del)
|
rs1553492107
|
|
|
NM_001164508.2(NEB):c.5185A>G (p.Met1729Val)
|
|
|
|
NM_001164508.2(NEB):c.5186T>C (p.Met1729Thr)
|
|
|
|
NM_001164508.2(NEB):c.519G>A (p.Lys173=)
|
rs2150732937
|
|
|
NM_001164508.2(NEB):c.5202G>A (p.Gln1734=)
|
rs2099202370
|
|
|
NM_001164508.2(NEB):c.5211C>T (p.Asn1737=)
|
|
|
|
NM_001164508.2(NEB):c.5211_5213del (p.Asn1737del)
|
rs1553491789
|
|
|
NM_001164508.2(NEB):c.5214G>A (p.Lys1738=)
|
|
|
|
NM_001164508.2(NEB):c.5217T>C (p.Ser1739=)
|
rs1159799605
|
|
|
NM_001164508.2(NEB):c.5225_5226del (p.Leu1742fs)
|
rs2154176983
|
|
|
NM_001164508.2(NEB):c.5229dup (p.Met1744fs)
|
rs2154176971
|
|
|
NM_001164508.2(NEB):c.5238+11A>T
|
|
|
|
NM_001164508.2(NEB):c.5238+15G>A
|
|
|
|
NM_001164508.2(NEB):c.5238+19G>A
|
|
|
|
NM_001164508.2(NEB):c.5239-15A>C
|
|
|
|
NM_001164508.2(NEB):c.5239-18del
|
|
|
|
NM_001164508.2(NEB):c.5239-1G>A
|
|
|
|
NM_001164508.2(NEB):c.5239-20A>C
|
|
|
|
NM_001164508.2(NEB):c.5239-20A>G
|
|
|
|
NM_001164508.2(NEB):c.5239-4G>T
|
|
|
|
NM_001164508.2(NEB):c.5239-8C>T
|
rs762635901
|
|
|
NM_001164508.2(NEB):c.5239A>G (p.Arg1747Gly)
|
rs1272476034
|
|
|
NM_001164508.2(NEB):c.5244C>G (p.Leu1748=)
|
rs2099191461
|
|
|
NM_001164508.2(NEB):c.5245_5254del (p.Tyr1749fs)
|
rs2099191297
|
|
|
NM_001164508.2(NEB):c.5250T>A (p.Thr1750=)
|
rs551804427
|
|
|
NM_001164508.2(NEB):c.5256A>G (p.Lys1752=)
|
|
|
|
NM_001164508.2(NEB):c.5257T>C (p.Trp1753Arg)
|
|
|
|
NM_001164508.2(NEB):c.5258G>A (p.Trp1753Ter)
|
rs776635100
|
|
|
NM_001164508.2(NEB):c.5261A>G (p.Asn1754Ser)
|
|
|
|
NM_001164508.2(NEB):c.5262C>A (p.Asn1754Lys)
|
|
|
|
NM_001164508.2(NEB):c.5264A>T (p.Lys1755Met)
|
|
|
|
NM_001164508.2(NEB):c.5274C>T (p.Thr1758=)
|
|
|
|
NM_001164508.2(NEB):c.5276C>T (p.Thr1759Ile)
|
|
|
|
NM_001164508.2(NEB):c.5279T>G (p.Ile1760Ser)
|
|
|
|
NM_001164508.2(NEB):c.5286C>T (p.Val1762=)
|
|
|
|
NM_001164508.2(NEB):c.5291C>T (p.Pro1764Leu)
|
|
|
|
NM_001164508.2(NEB):c.5298A>G (p.Thr1766=)
|
|
|
|
NM_001164508.2(NEB):c.529G>A (p.Glu177Lys)
|
rs1403433350
|
|
|
NM_001164508.2(NEB):c.52G>C (p.Val18Leu)
|
rs2150994592
|
|
|
NM_001164508.2(NEB):c.5303A>C (p.Asp1768Ala)
|
|
|
|
NM_001164508.2(NEB):c.5304T>A (p.Asp1768Glu)
|
|
|
|
NM_001164508.2(NEB):c.5304T>C (p.Asp1768=)
|
rs1417460673
|
|
|
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter)
|
rs2154175437
|
|
|
NM_001164508.2(NEB):c.5311C>T (p.Leu1771Phe)
|
|
|
|
NM_001164508.2(NEB):c.5313C>T (p.Leu1771=)
|
rs2154175432
|
|
|
NM_001164508.2(NEB):c.531A>G (p.Glu177=)
|
rs2099784144
|
|
|
NM_001164508.2(NEB):c.5322A>G (p.Val1774=)
|
|
|
|
NM_001164508.2(NEB):c.5328A>G (p.Gln1776=)
|
|
|
|
NM_001164508.2(NEB):c.5329A>G (p.Ile1777Val)
|
|
|
|
NM_001164508.2(NEB):c.5335A>T (p.Met1779Leu)
|
rs962698882
|
|
|
NM_001164508.2(NEB):c.5337G>A (p.Met1779Ile)
|
|
|
|
NM_001164508.2(NEB):c.5343+14C>A
|
|
|
|
NM_001164508.2(NEB):c.5343+15A>G
|
|
|
|
NM_001164508.2(NEB):c.5343+17C>A
|
|
|
|
NM_001164508.2(NEB):c.5343+5G>A
|
rs2154175371
|
|
|
NM_001164508.2(NEB):c.5344-13T>C
|
|
|
|
NM_001164508.2(NEB):c.5344-15T>C
|
|
|
|
NM_001164508.2(NEB):c.5344-16C>T
|
|
|
|
NM_001164508.2(NEB):c.5344-22_5344-20del
|
|
|
|
NM_001164508.2(NEB):c.5344-4T>G
|
|
|
|
NM_001164508.2(NEB):c.5344-8T>C
|
rs763115844
|
|
|
NM_001164508.2(NEB):c.5345A>C (p.Lys1782Thr)
|
|
|
|
NM_001164508.2(NEB):c.5346del (p.Lys1782fs)
|
rs2154174916
|
|
|
NM_001164508.2(NEB):c.5348T>C (p.Leu1783Pro)
|
|
|
|
NM_001164508.2(NEB):c.5349G>A (p.Leu1783=)
|
|
|
|
NM_001164508.2(NEB):c.5349G>C (p.Leu1783=)
|
|
|
|
NM_001164508.2(NEB):c.5364G>A (p.Trp1788Ter)
|
rs201636991
|
|
|
NM_001164508.2(NEB):c.5365G>A (p.Glu1789Lys)
|
rs774196513
|
|
|
NM_001164508.2(NEB):c.5376G>A (p.Lys1792=)
|
rs886038453
|
|
|
NM_001164508.2(NEB):c.5385A>T (p.Gly1795=)
|
|
|
|
NM_001164508.2(NEB):c.5391C>T (p.Asp1797=)
|
rs757909014
|
|
|
NM_001164508.2(NEB):c.5392C>T (p.Leu1798=)
|
rs925615143
|
|
|
NM_001164508.2(NEB):c.5398C>T (p.Pro1800Ser)
|
|
|
|
NM_001164508.2(NEB):c.5403T>G (p.Asp1801Glu)
|
|
|
|
NM_001164508.2(NEB):c.5405C>A (p.Ala1802Asp)
|
|
|
|
NM_001164508.2(NEB):c.540G>A (p.Lys180=)
|
|
|
|
NM_001164508.2(NEB):c.5418G>A (p.Lys1806=)
|
rs2154174722
|
|
|
NM_001164508.2(NEB):c.5419G>C (p.Ala1807Pro)
|
|
|
|
NM_001164508.2(NEB):c.5419G>T (p.Ala1807Ser)
|
rs374677022
|
|
|
NM_001164508.2(NEB):c.5420C>G (p.Ala1807Gly)
|
rs373790988
|
|
|
NM_001164508.2(NEB):c.5424A>C (p.Ala1808=)
|
|
|
|
NM_001164508.2(NEB):c.5427A>G (p.Arg1809=)
|
rs2154174695
|
|
|
NM_001164508.2(NEB):c.5432C>G (p.Ser1811Cys)
|
|
|
|
NM_001164508.2(NEB):c.5436A>C (p.Arg1812Ser)
|
|
|
|
NM_001164508.2(NEB):c.5437G>A (p.Asp1813Asn)
|
rs2099187269
|
|
|
NM_001164508.2(NEB):c.5439C>T (p.Asp1813=)
|
|
|
|
NM_001164508.2(NEB):c.5440_5449dup (p.Tyr1818delinsCysGlnTer)
|
|
|
|
NM_001164508.2(NEB):c.5444C>G (p.Ala1815Gly)
|
rs767491081
|
|
|
NM_001164508.2(NEB):c.5451+11G>C
|
|
|
|
NM_001164508.2(NEB):c.5451+11G>T
|
|
|
|
NM_001164508.2(NEB):c.5451+13A>G
|
|
|
|
NM_001164508.2(NEB):c.5451+14C>T
|
|
|
|
NM_001164508.2(NEB):c.5451+15T>G
|
|
|
|
NM_001164508.2(NEB):c.5451+1G>T
|
|
|
|
NM_001164508.2(NEB):c.5451+2_5451+11del
|
rs1553487838
|
|
|
NM_001164508.2(NEB):c.5451T>C (p.Asp1817=)
|
|
|
|
NM_001164508.2(NEB):c.5452-10C>G
|
rs755973658
|
|
|
NM_001164508.2(NEB):c.5452-13T>A
|
|
|
|
NM_001164508.2(NEB):c.5452-14T>C
|
|
|
|
NM_001164508.2(NEB):c.5452-1G>A
|
rs2154172894
|
|
|
NM_001164508.2(NEB):c.5458_5459del (p.Tyr1820fs)
|
rs2154172885
|
|
|
NM_001164508.2(NEB):c.5462A>C (p.Lys1821Thr)
|
|
|
|
NM_001164508.2(NEB):c.5467G>T (p.Ala1823Ser)
|
rs2099173290
|
|
|
NM_001164508.2(NEB):c.546G>A (p.Lys182=)
|
rs2150731866
|
|
|
NM_001164508.2(NEB):c.5472T>C (p.Tyr1824=)
|
rs1558984290
|
|
|
NM_001164508.2(NEB):c.5475A>G (p.Glu1825=)
|
rs2154172851
|
|
|
NM_001164508.2(NEB):c.5478A>G (p.Gln1826=)
|
rs754914675
|
|
|
NM_001164508.2(NEB):c.5481C>T (p.Ala1827=)
|
|
|
|
NM_001164508.2(NEB):c.5493C>T (p.His1831=)
|
|
|
|
NM_001164508.2(NEB):c.5493_5494del (p.Ile1832fs)
|
rs2154172818
|
|
|
NM_001164508.2(NEB):c.5499C>T (p.Gly1833=)
|
rs2154172803
|
|
|
NM_001164508.2(NEB):c.54G>C (p.Val18=)
|
rs1008378873
|
|
|
NM_001164508.2(NEB):c.54G>T (p.Val18=)
|
|
|
|
NM_001164508.2(NEB):c.5504G>A (p.Arg1835Gln)
|
|
|
|
NM_001164508.2(NEB):c.5506A>G (p.Ser1836Gly)
|
|
|
|
NM_001164508.2(NEB):c.5508C>G (p.Ser1836Arg)
|
|
|
|
NM_001164508.2(NEB):c.5511G>A (p.Leu1837=)
|
|
|
|
NM_001164508.2(NEB):c.5513A>C (p.Glu1838Ala)
|
|
|
|
NM_001164508.2(NEB):c.5515G>A (p.Asp1839Asn)
|
rs2099172820
|
|
|
NM_001164508.2(NEB):c.5523_5527del (p.Lys1842fs)
|
rs2154172729
|
|
|
NM_001164508.2(NEB):c.5525A>G (p.Lys1842Arg)
|
rs2099172694
|
|
|
NM_001164508.2(NEB):c.552G>A (p.Leu184=)
|
rs749789516
|
|
|
NM_001164508.2(NEB):c.5532G>A (p.Val1844=)
|
|
|
|
NM_001164508.2(NEB):c.5535C>G (p.His1845Gln)
|
|
|
|
NM_001164508.2(NEB):c.5538C>T (p.Phe1846=)
|
|
|
|
NM_001164508.2(NEB):c.5544A>G (p.Gln1848=)
|
|
|
|
NM_001164508.2(NEB):c.5547G>T (p.Val1849=)
|
|
|
|
NM_001164508.2(NEB):c.5555T>C (p.Met1852Thr)
|
rs144180493
|
|
|
NM_001164508.2(NEB):c.5557C>T (p.Gln1853Ter)
|
rs2154172676
|
|
|
NM_001164508.2(NEB):c.5558A>C (p.Gln1853Pro)
|
rs748760784
|
|
|
NM_001164508.2(NEB):c.555T>G (p.Leu185=)
|
|
|
|
NM_001164508.2(NEB):c.5561C>T (p.Ser1854Leu)
|
rs1553485582
|
|
|
NM_001164508.2(NEB):c.5565C>T (p.Asp1855=)
|
rs200468391
|
|
|
NM_001164508.2(NEB):c.5574C>T (p.Tyr1858=)
|
rs781185019
|
|
|
NM_001164508.2(NEB):c.5587G>A (p.Glu1863Lys)
|
|
|
|
NM_001164508.2(NEB):c.5587G>T (p.Glu1863Ter)
|
rs1375183081
|
|
|
NM_001164508.2(NEB):c.558T>C (p.Pro186=)
|
rs2150731543
|
|
|
NM_001164508.2(NEB):c.5595C>T (p.Ser1865=)
|
rs1553485337
|
|
|
NM_001164508.2(NEB):c.5595dup (p.Lys1866fs)
|
rs2154172582
|
|
|
NM_001164508.2(NEB):c.5596A>G (p.Lys1866Glu)
|
|
|
|
NM_001164508.2(NEB):c.5600C>T (p.Thr1867Ile)
|
|
|
|
NM_001164508.2(NEB):c.5601C>G (p.Thr1867=)
|
rs2154172565
|
|
|
NM_001164508.2(NEB):c.5601C>T (p.Thr1867=)
|
rs2154172565
|
|
|
NM_001164508.2(NEB):c.5604C>T (p.Ser1868=)
|
rs1383368666
|
|
|
NM_001164508.2(NEB):c.5610C>T (p.His1870=)
|
rs2154172552
|
|
|
NM_001164508.2(NEB):c.5612C>A (p.Thr1871Asn)
|
rs753865894
|
|
|
NM_001164508.2(NEB):c.5613C>G (p.Thr1871=)
|
|
|
|
NM_001164508.2(NEB):c.5613C>T (p.Thr1871=)
|
rs1363506031
|
|
|
NM_001164508.2(NEB):c.5614C>G (p.Pro1872Ala)
|
|
|
|
NM_001164508.2(NEB):c.5615C>T (p.Pro1872Leu)
|
|
|
|
NM_001164508.2(NEB):c.5619G>A (p.Val1873=)
|
|
|
|
NM_001164508.2(NEB):c.561T>C (p.Pro187=)
|
|
|
|
NM_001164508.2(NEB):c.5622C>T (p.Asp1874=)
|
|
|
|
NM_001164508.2(NEB):c.5626C>T (p.Leu1876Phe)
|
|
|
|
NM_001164508.2(NEB):c.5628C>G (p.Leu1876=)
|
rs771407375
|
|
|
NM_001164508.2(NEB):c.5628C>T (p.Leu1876=)
|
rs771407375
|
|
|
NM_001164508.2(NEB):c.5630G>T (p.Ser1877Ile)
|
|
|
|
NM_001164508.2(NEB):c.5631T>C (p.Ser1877=)
|
|
|
|
NM_001164508.2(NEB):c.5634G>A (p.Val1878=)
|
rs2154172468
|
|
|
NM_001164508.2(NEB):c.5637G>A (p.Val1879=)
|
rs1558980163
|
|
|
NM_001164508.2(NEB):c.5641_5642delinsAG (p.Ala1881Ser)
|
rs2154172447
|
|
|
NM_001164508.2(NEB):c.5655G>A (p.Gln1885=)
|
|
|
|
NM_001164508.2(NEB):c.5658A>G (p.Glu1886=)
|
|
|
|
NM_001164508.2(NEB):c.5664C>A (p.Ala1888=)
|
rs367607601
|
|
|
NM_001164508.2(NEB):c.5664C>T (p.Ala1888=)
|
|
|
|
NM_001164508.2(NEB):c.5667C>T (p.Thr1889=)
|
rs1005978671
|
|
|
NM_001164508.2(NEB):c.5669A>T (p.Asn1890Ile)
|
|
|
|
NM_001164508.2(NEB):c.5670T>C (p.Asn1890=)
|
|
|
|
NM_001164508.2(NEB):c.5678A>G (p.Tyr1893Cys)
|
|
|
|
NM_001164508.2(NEB):c.5679C>T (p.Tyr1893=)
|
|
|
|
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly)
|
rs150961139
|
|
|
NM_001164508.2(NEB):c.5680A>T (p.Arg1894Trp)
|
|
|
|
NM_001164508.2(NEB):c.5683A>C (p.Asn1895His)
|
|
|
|
NM_001164508.2(NEB):c.5696C>A (p.Thr1899Asn)
|
rs202234374
|
|
|
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del)
|
rs775531807
|
|
|
NM_001164508.2(NEB):c.5699A>T (p.Tyr1900Phe)
|
|
|
|
NM_001164508.2(NEB):c.5700C>T (p.Tyr1900=)
|
|
|
|
NM_001164508.2(NEB):c.5717C>T (p.Ala1906Val)
|
rs2099170735
|
|
|
NM_001164508.2(NEB):c.5718C>G (p.Ala1906=)
|
|
|
|
NM_001164508.2(NEB):c.5719A>G (p.Met1907Val)
|
|
|
|
NM_001164508.2(NEB):c.5720T>G (p.Met1907Arg)
|
|
|
|
NM_001164508.2(NEB):c.5721G>A (p.Met1907Ile)
|
|
|
|
NM_001164508.2(NEB):c.5722del (p.Ser1908fs)
|
rs1553484601
|
|
|
NM_001164508.2(NEB):c.5731T>C (p.Leu1911=)
|
rs1575521586
|
|
|
NM_001164508.2(NEB):c.5742T>C (p.Asn1914=)
|
|
|
|
NM_001164508.2(NEB):c.5743A>G (p.Met1915Val)
|
|
|
|
NM_001164508.2(NEB):c.5751G>C (p.Gln1917His)
|
|
|
|
NM_001164508.2(NEB):c.5754T>G (p.Ile1918Met)
|
|
|
|
NM_001164508.2(NEB):c.5763+12C>T
|
|
|
|
NM_001164508.2(NEB):c.5763+14A>G
|
|
|
|
NM_001164508.2(NEB):c.5763+19T>C
|
|
|
|
NM_001164508.2(NEB):c.5763+1G>A
|
rs2154172204
|
|
|
NM_001164508.2(NEB):c.5763+7G>A
|
|
|
|
NM_001164508.2(NEB):c.5764-11C>T
|
|
|
|
NM_001164508.2(NEB):c.5764-12C>T
|
|
|
|
NM_001164508.2(NEB):c.5764-19A>G
|
|
|
|
NM_001164508.2(NEB):c.5764-2A>G
|
|
|
|
NM_001164508.2(NEB):c.5764-6T>C
|
|
|
|
NM_001164508.2(NEB):c.5764-9C>T
|
rs1210833671
|
|
|
NM_001164508.2(NEB):c.5767C>G (p.Gln1923Glu)
|
rs2154169026
|
|
|
NM_001164508.2(NEB):c.5771A>C (p.Tyr1924Ser)
|
|
|
|
NM_001164508.2(NEB):c.5771A>G (p.Tyr1924Cys)
|
rs747326135
|
|
|
NM_001164508.2(NEB):c.5783A>C (p.Tyr1928Ser)
|
|
|
|
NM_001164508.2(NEB):c.5784T>C (p.Tyr1928=)
|
rs1575485832
|
|
|
NM_001164508.2(NEB):c.5787T>C (p.Ala1929=)
|
rs2154168960
|
|
|
NM_001164508.2(NEB):c.57T>A (p.Val19=)
|
|
|
|
NM_001164508.2(NEB):c.5805T>C (p.Ile1935=)
|
|
|
|
NM_001164508.2(NEB):c.5806G>A (p.Gly1936Arg)
|
rs997951612
|
|
|
NM_001164508.2(NEB):c.5807G>A (p.Gly1936Glu)
|
|
|
|
NM_001164508.2(NEB):c.5808A>G (p.Gly1936=)
|
|
|
|
NM_001164508.2(NEB):c.5808A>T (p.Gly1936=)
|
rs759345767
|
|
|
NM_001164508.2(NEB):c.5816C>T (p.Pro1939Leu)
|
rs1486289467
|
|
|
NM_001164508.2(NEB):c.5818C>A (p.Leu1940Met)
|
|
|
|
NM_001164508.2(NEB):c.5819T>C (p.Leu1940Pro)
|
|
|
|
NM_001164508.2(NEB):c.5824T>A (p.Ser1942Thr)
|
rs2154168846
|
|
|
NM_001164508.2(NEB):c.5828T>A (p.Leu1943Gln)
|
rs531692437
|
|
|
NM_001164508.2(NEB):c.5836G>A (p.Glu1946Lys)
|
|
|
|
NM_001164508.2(NEB):c.5841A>G (p.Lys1947=)
|
rs1304489001
|
|
|
NM_001164508.2(NEB):c.5843A>T (p.Asn1948Ile)
|
rs2154168814
|
|
|
NM_001164508.2(NEB):c.5844C>T (p.Asn1948=)
|
|
|
|
NM_001164508.2(NEB):c.5850A>C (p.Lys1950Asn)
|
|
|
|
NM_001164508.2(NEB):c.5853C>G (p.Ala1951=)
|
rs757546480
|
|
|
NM_001164508.2(NEB):c.585C>G (p.Ala195=)
|
rs374538366
|
|
|
NM_001164508.2(NEB):c.585C>T (p.Ala195=)
|
rs374538366
|
|
|
NM_001164508.2(NEB):c.5864T>C (p.Ile1955Thr)
|
|
|
|
NM_001164508.2(NEB):c.5874G>A (p.Lys1958=)
|
|
|
|
NM_001164508.2(NEB):c.5876A>C (p.Lys1959Thr)
|
|
|
|
NM_001164508.2(NEB):c.5881C>T (p.Arg1961Cys)
|
|
|
|
NM_001164508.2(NEB):c.5886G>A (p.Gln1962=)
|
|
|
|
NM_001164508.2(NEB):c.5887C>T (p.His1963Tyr)
|
|
|
|
NM_001164508.2(NEB):c.5889C>T (p.His1963=)
|
rs2154168716
|
|
|
NM_001164508.2(NEB):c.5895C>A (p.Asp1965Glu)
|
|
|
|
NM_001164508.2(NEB):c.5913A>G (p.Thr1971=)
|
|
|
|
NM_001164508.2(NEB):c.5922C>T (p.Asp1974=)
|
rs1458776067
|
|
|
NM_001164508.2(NEB):c.5924C>T (p.Ser1975Leu)
|
|
|
|
NM_001164508.2(NEB):c.5935G>A (p.Val1979Ile)
|
|
|
|
NM_001164508.2(NEB):c.5935G>C (p.Val1979Leu)
|
rs771329756
|
|
|
NM_001164508.2(NEB):c.5936T>C (p.Val1979Ala)
|
rs749553879
|
|
|
NM_001164508.2(NEB):c.5940G>A (p.Leu1980=)
|
|
|
|
NM_001164508.2(NEB):c.5943C>T (p.Ala1981=)
|
rs756535708
|
|
|
NM_001164508.2(NEB):c.5945A>C (p.Gln1982Pro)
|
rs1212716508
|
|
|
NM_001164508.2(NEB):c.5959dup (p.Ile1987fs)
|
rs2154168541
|
|
|
NM_001164508.2(NEB):c.5970+15A>G
|
|
|
|
NM_001164508.2(NEB):c.5970+20A>G
|
|
|
|
NM_001164508.2(NEB):c.5970+7C>G
|
rs975930519
|
|
|
NM_001164508.2(NEB):c.5970+9T>G
|
rs2154168501
|
|
|
NM_001164508.2(NEB):c.5971-11T>C
|
|
|
|
NM_001164508.2(NEB):c.5971-12T>C
|
|
|
|
NM_001164508.2(NEB):c.5971-13G>T
|
rs2154157996
|
|
|
NM_001164508.2(NEB):c.5971-4del
|
rs2154157926
|
|
|
NM_001164508.2(NEB):c.5971-6T>C
|
rs2099118743
|
|
|
NM_001164508.2(NEB):c.5971-6dup
|
rs551520922
|
|
|
NM_001164508.2(NEB):c.5971-9T>C
|
rs528962426
|
|
|
NM_001164508.2(NEB):c.5971-9T>G
|
rs528962426
|
|
|
NM_001164508.2(NEB):c.5973T>A (p.His1991Gln)
|
|
|
|
NM_001164508.2(NEB):c.5976C>T (p.Leu1992=)
|
rs1433412595
|
|
|
NM_001164508.2(NEB):c.5977dup (p.Tyr1993fs)
|
rs2099118606
|
|
|
NM_001164508.2(NEB):c.5985A>G (p.Gln1995=)
|
rs2099118542
|
|
|
NM_001164508.2(NEB):c.5986G>A (p.Ala1996Thr)
|
|
|
|
NM_001164508.2(NEB):c.5986G>C (p.Ala1996Pro)
|
|
|
|
NM_001164508.2(NEB):c.5987C>A (p.Ala1996Glu)
|
|
|
|
NM_001164508.2(NEB):c.5988A>G (p.Ala1996=)
|
rs1255321304
|
|
|
NM_001164508.2(NEB):c.598G>A (p.Ala200Thr)
|
|
|
|
NM_001164508.2(NEB):c.5991_5992del (p.Trp1997_Glu1998delinsTer)
|
|
|
|
NM_001164508.2(NEB):c.5992G>C (p.Glu1998Gln)
|
|
|
|
NM_001164508.2(NEB):c.5996C>T (p.Ala1999Val)
|
|
|
|
NM_001164508.2(NEB):c.6000C>T (p.Asp2000=)
|
|
|
|
NM_001164508.2(NEB):c.6018C>T (p.Ile2006=)
|
|
|
|
NM_001164508.2(NEB):c.6025G>C (p.Asp2009His)
|
|
|
|
NM_001164508.2(NEB):c.6030C>A (p.Ile2010=)
|
rs2154157760
|
|
|
NM_001164508.2(NEB):c.6031C>T (p.Pro2011Ser)
|
|
|
|
NM_001164508.2(NEB):c.6032C>T (p.Pro2011Leu)
|
rs2099118243
|
|
|
NM_001164508.2(NEB):c.6035A>G (p.Gln2012Arg)
|
rs2154157733
|
|
|
NM_001164508.2(NEB):c.6036G>A (p.Gln2012=)
|
|
|
|
NM_001164508.2(NEB):c.6036G>T (p.Gln2012His)
|
|
|
|
NM_001164508.2(NEB):c.6046G>C (p.Ala2016Pro)
|
rs1558927613
|
|
|
NM_001164508.2(NEB):c.6051G>A (p.Lys2017=)
|
|
|
|
NM_001164508.2(NEB):c.6052G>A (p.Ala2018Thr)
|
|
|
|
NM_001164508.2(NEB):c.6067_6068del (p.Met2023fs)
|
|
|
|
NM_001164508.2(NEB):c.606C>T (p.Phe202=)
|
rs1426246334
|
|
|
NM_001164508.2(NEB):c.6075+13C>A
|
|
|
|
NM_001164508.2(NEB):c.6075+13C>T
|
|
|
|
NM_001164508.2(NEB):c.6075+14C>T
|
|
|
|
NM_001164508.2(NEB):c.6075+2T>G
|
rs2154157623
|
|
|
NM_001164508.2(NEB):c.6075+3A>T
|
rs986325764
|
|
|
NM_001164508.2(NEB):c.6075+8T>C
|
|
|
|
NM_001164508.2(NEB):c.6076-10C>G
|
|
|
|
NM_001164508.2(NEB):c.6076-12C>T
|
|
|
|
NM_001164508.2(NEB):c.6076-14G>T
|
|
|
|
NM_001164508.2(NEB):c.6076-20C>T
|
|
|
|
NM_001164508.2(NEB):c.6076-2A>C
|
rs1553469514
|
|
|
NM_001164508.2(NEB):c.6076-2A>G
|
rs1553469514
|
|
|
NM_001164508.2(NEB):c.6076-4A>G
|
rs2154154252
|
|
|
NM_001164508.2(NEB):c.6077A>G (p.Lys2026Arg)
|
|
|
|
NM_001164508.2(NEB):c.6078del (p.Lys2026fs)
|
rs1057516758
|
|
|
NM_001164508.2(NEB):c.6080T>A (p.Leu2027His)
|
|
|
|
NM_001164508.2(NEB):c.6081C>G (p.Leu2027=)
|
rs2154154209
|
|
|
NM_001164508.2(NEB):c.6084C>T (p.Tyr2028=)
|
|
|
|
NM_001164508.2(NEB):c.6085A>C (p.Lys2029Gln)
|
rs1387009037
|
|
|
NM_001164508.2(NEB):c.6087A>G (p.Lys2029=)
|
rs2154154183
|
|
|
NM_001164508.2(NEB):c.6091T>A (p.Ser2031Thr)
|
|
|
|
NM_001164508.2(NEB):c.6093C>T (p.Ser2031=)
|
rs777443511
|
|
|
NM_001164508.2(NEB):c.6094T>C (p.Leu2032=)
|
|
|
|
NM_001164508.2(NEB):c.6103dup (p.Ser2035fs)
|
rs2154154153
|
|
|
NM_001164508.2(NEB):c.6112_6115del (p.Lys2038fs)
|
rs1575358650
|
|
|
NM_001164508.2(NEB):c.6115G>A (p.Gly2039Ser)
|
|
|
|
NM_001164508.2(NEB):c.611del (p.Lys204fs)
|
rs2150729369
|
|
|
NM_001164508.2(NEB):c.612+11G>T
|
|
|
|
NM_001164508.2(NEB):c.612+14C>T
|
|
|
|
NM_001164508.2(NEB):c.612+1G>A
|
rs1202331107
|
|
|
NM_001164508.2(NEB):c.612+20C>G
|
|
|
|
NM_001164508.2(NEB):c.6120T>C (p.Tyr2040=)
|
|
|
|
NM_001164508.2(NEB):c.6126C>G (p.Leu2042=)
|
rs1365332181
|
|
|
NM_001164508.2(NEB):c.613-14C>G
|
|
|
|
NM_001164508.2(NEB):c.613-14C>T
|
|
|
|
NM_001164508.2(NEB):c.613-15T>A
|
|
|
|
NM_001164508.2(NEB):c.613-16C>T
|
|
|
|
NM_001164508.2(NEB):c.613-19T>C
|
|
|
|
NM_001164508.2(NEB):c.613-1G>A
|
rs767693366
|
|
|
NM_001164508.2(NEB):c.613-1G>C
|
rs767693366
|
|
|
NM_001164508.2(NEB):c.613-2A>G
|
rs752893483
|
|
|
NM_001164508.2(NEB):c.613-7G>A
|
|
|
|
NM_001164508.2(NEB):c.613-8dup
|
rs757844100
|
|
|
NM_001164508.2(NEB):c.6138A>G (p.Ala2046=)
|
rs1394304728
|
|
|
NM_001164508.2(NEB):c.6142C>A (p.Pro2048Thr)
|
|
|
|
NM_001164508.2(NEB):c.6143C>T (p.Pro2048Leu)
|
|
|
|
NM_001164508.2(NEB):c.6155C>A (p.Ala2052Asp)
|
|
|
|
NM_001164508.2(NEB):c.6160G>T (p.Ala2054Ser)
|
|
|
|
NM_001164508.2(NEB):c.6164C>T (p.Ser2055Phe)
|
|
|
|
NM_001164508.2(NEB):c.6172A>T (p.Ile2058Phe)
|
rs543827269
|
|
|
NM_001164508.2(NEB):c.6179G>T (p.Ser2060Ile)
|
|
|
|
NM_001164508.2(NEB):c.617T>G (p.Leu206Arg)
|
|
|
|
NM_001164508.2(NEB):c.617del (p.Leu206fs)
|
rs2150664716
|
|
|
NM_001164508.2(NEB):c.6180T>C (p.Ser2060=)
|
|
|
|
NM_001164508.2(NEB):c.6183+18G>A
|
|
|
|
NM_001164508.2(NEB):c.6183+1G>A
|
rs557870969
|
|
|
NM_001164508.2(NEB):c.6183+1G>T
|
|
|
|
NM_001164508.2(NEB):c.6183+8C>T
|
|
|
|
NM_001164508.2(NEB):c.6184-13_6184-12del
|
|
|
|
NM_001164508.2(NEB):c.6184-14T>C
|
rs10173335
|
|
|
NM_001164508.2(NEB):c.6184-16C>A
|
|
|
|
NM_001164508.2(NEB):c.6184-17T>C
|
|
|
|
NM_001164508.2(NEB):c.6184-17_6184-16del
|
|
|
|
NM_001164508.2(NEB):c.6184-1G>A
|
rs2154149413
|
|
|
NM_001164508.2(NEB):c.6184-5C>T
|
rs2154149421
|
|
|
NM_001164508.2(NEB):c.6188A>G (p.Lys2063Arg)
|
|
|
|
NM_001164508.2(NEB):c.6189A>G (p.Lys2063=)
|
|
|
|
NM_001164508.2(NEB):c.618G>A (p.Leu206=)
|
rs2150664625
|
|
|
NM_001164508.2(NEB):c.6195G>A (p.Lys2065=)
|
|
|
|
NM_001164508.2(NEB):c.6195_6200del (p.2063KY[1])
|
rs767681176
|
|
|
NM_001164508.2(NEB):c.6198C>T (p.Tyr2066=)
|
rs1407129280
|
|
|
NM_001164508.2(NEB):c.6201T>C (p.Asn2067=)
|
|
|
|
NM_001164508.2(NEB):c.6204T>G (p.Tyr2068Ter)
|
rs2154149362
|
|
|
NM_001164508.2(NEB):c.6205G>T (p.Glu2069Ter)
|
|
|
|
NM_001164508.2(NEB):c.6213G>A (p.Gly2071=)
|
|
|
|
NM_001164508.2(NEB):c.6216G>A (p.Lys2072=)
|
rs547625126
|
|
|
NM_001164508.2(NEB):c.6226G>A (p.Val2076Ile)
|
|
|
|
NM_001164508.2(NEB):c.6236G>A (p.Arg2079His)
|
rs760134969
|
|
|
NM_001164508.2(NEB):c.6237C>T (p.Arg2079=)
|
|
|
|
NM_001164508.2(NEB):c.6241C>T (p.Leu2081Phe)
|
|
|
|
NM_001164508.2(NEB):c.6242T>G (p.Leu2081Arg)
|
rs2099085781
|
|
|
NM_001164508.2(NEB):c.6242_6243del (p.Leu2081fs)
|
rs2154149251
|
|
|
NM_001164508.2(NEB):c.6243C>G (p.Leu2081=)
|
|
|
|
NM_001164508.2(NEB):c.6243C>T (p.Leu2081=)
|
rs774982299
|
|
|
NM_001164508.2(NEB):c.6246G>A (p.Glu2082=)
|
|
|
|
NM_001164508.2(NEB):c.6249T>C (p.Asp2083=)
|
|
|
|
NM_001164508.2(NEB):c.6254C>T (p.Pro2085Leu)
|
rs773025267
|
|
|
NM_001164508.2(NEB):c.6258A>G (p.Lys2086=)
|
|
|
|
NM_001164508.2(NEB):c.6263T>C (p.Val2088Ala)
|
|
|
|
NM_001164508.2(NEB):c.6264C>G (p.Val2088=)
|
rs2154149185
|
|
|
NM_001164508.2(NEB):c.6270C>T (p.Ser2090=)
|
|
|
|
NM_001164508.2(NEB):c.6271A>C (p.Met2091Leu)
|
|
|
|
NM_001164508.2(NEB):c.6271A>G (p.Met2091Val)
|
|
|
|
NM_001164508.2(NEB):c.627A>G (p.Glu209=)
|
|
|
|
NM_001164508.2(NEB):c.6288G>A (p.Met2096Ile)
|
rs2154149119
|
|
|
NM_001164508.2(NEB):c.6294T>C (p.Ser2098=)
|
|
|
|
NM_001164508.2(NEB):c.6294T>G (p.Ser2098=)
|
|
|
|
NM_001164508.2(NEB):c.6299G>A (p.Arg2100Gln)
|
rs752836728
|
|
|
NM_001164508.2(NEB):c.6305A>G (p.Tyr2102Cys)
|
|
|
|
NM_001164508.2(NEB):c.6306C>T (p.Tyr2102=)
|
|
|
|
NM_001164508.2(NEB):c.6308A>G (p.Lys2103Arg)
|
|
|
|
NM_001164508.2(NEB):c.6321G>A (p.Glu2107=)
|
rs2154149018
|
|
|
NM_001164508.2(NEB):c.6323A>G (p.Asn2108Ser)
|
rs1558891493
|
|
|
NM_001164508.2(NEB):c.6324C>T (p.Asn2108=)
|
|
|
|
NM_001164508.2(NEB):c.633G>A (p.Trp211Ter)
|
rs2099780461
|
|
|
NM_001164508.2(NEB):c.6340C>T (p.His2114Tyr)
|
|
|
|
NM_001164508.2(NEB):c.6342C>T (p.His2114=)
|
|
|
|
NM_001164508.2(NEB):c.6343_6344dup (p.Ala2117fs)
|
rs1575295628
|
|
|
NM_001164508.2(NEB):c.6351C>G (p.Ala2117=)
|
rs756476348
|
|
|
NM_001164508.2(NEB):c.6352G>A (p.Asp2118Asn)
|
|
|
|
NM_001164508.2(NEB):c.6355A>G (p.Met2119Val)
|
|
|
|
NM_001164508.2(NEB):c.6369G>C (p.Thr2123=)
|
rs540542570
|
|
|
NM_001164508.2(NEB):c.6378G>A (p.Lys2126=)
|
|
|
|
NM_001164508.2(NEB):c.6381T>C (p.Asp2127=)
|
|
|
|
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter)
|
rs80344795
|
|
|
NM_001164508.2(NEB):c.6390C>A (p.Ala2130=)
|
|
|
|
NM_001164508.2(NEB):c.6394A>G (p.Ile2132Val)
|
rs755394940
|
|
|
NM_001164508.2(NEB):c.6399C>G (p.Thr2133=)
|
|
|
|
NM_001164508.2(NEB):c.639A>G (p.Ala213=)
|
|
|
|
NM_001164508.2(NEB):c.63del (p.Glu22fs)
|
rs2150994126
|
|
|
NM_001164508.2(NEB):c.6403A>G (p.Thr2135Ala)
|
|
|
|
NM_001164508.2(NEB):c.642C>T (p.Asp214=)
|
rs373133009
|
|
|
NM_001164508.2(NEB):c.6430T>G (p.Tyr2144Asp)
|
|
|
|
NM_001164508.2(NEB):c.6435C>A (p.Ile2145=)
|
|
|
|
NM_001164508.2(NEB):c.6438C>T (p.Leu2146=)
|
|
|
|
NM_001164508.2(NEB):c.6444A>G (p.Pro2148=)
|
rs776361032
|
|
|
NM_001164508.2(NEB):c.6455A>G (p.Asn2152Ser)
|
|
|
|
NM_001164508.2(NEB):c.6456C>T (p.Asn2152=)
|
rs2154148597
|
|
|
NM_001164508.2(NEB):c.6463C>T (p.Leu2155=)
|
rs1575291742
|
|
|
NM_001164508.2(NEB):c.6467C>G (p.Thr2156Ser)
|
|
|
|
NM_001164508.2(NEB):c.6468C>T (p.Thr2156=)
|
rs939177563
|
|
|
NM_001164508.2(NEB):c.6469A>G (p.Arg2157Gly)
|
|
|
|
NM_001164508.2(NEB):c.6471G>A (p.Arg2157=)
|
rs1197761252
|
|
|
NM_001164508.2(NEB):c.6476T>G (p.Met2159Arg)
|
|
|
|
NM_001164508.2(NEB):c.6492T>C (p.Ser2164=)
|
rs2154148449
|
|
|
NM_001164508.2(NEB):c.6493G>A (p.Asp2165Asn)
|
rs1234273631
|
|
|
NM_001164508.2(NEB):c.6493G>C (p.Asp2165His)
|
rs1234273631
|
|
|
NM_001164508.2(NEB):c.6495+16A>C
|
rs1351696521
|
|
|
NM_001164508.2(NEB):c.6495+16A>G
|
|
|
|
NM_001164508.2(NEB):c.6495+17C>T
|
|
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|
NM_001164508.2(NEB):c.6495+20G>A
|
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|
|
NM_001164508.2(NEB):c.6495T>C (p.Asp2165=)
|
rs758831243
|
|
|
NM_001164508.2(NEB):c.6496-10T>A
|
|
|
|
NM_001164508.2(NEB):c.6496-13A>G
|
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|
|
NM_001164508.2(NEB):c.6496-17G>C
|
|
|
|
NM_001164508.2(NEB):c.6496-4A>G
|
rs2154148017
|
|
|
NM_001164508.2(NEB):c.6496-5T>C
|
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|
|
NM_001164508.2(NEB):c.6498T>C (p.Asn2166=)
|
rs1484392213
|
|
|
NM_001164508.2(NEB):c.64G>A (p.Glu22Lys)
|
rs2150994058
|
|
|
NM_001164508.2(NEB):c.6502T>C (p.Tyr2168His)
|
|
|
|
NM_001164508.2(NEB):c.6507G>A (p.Lys2169=)
|
rs267598923
|
|
|
NM_001164508.2(NEB):c.6510A>G (p.Gln2170=)
|
|
|
|
NM_001164508.2(NEB):c.6522A>G (p.Glu2174=)
|
|
|
|
NM_001164508.2(NEB):c.6540C>T (p.Gly2180=)
|
|
|
|
NM_001164508.2(NEB):c.6542G>A (p.Trp2181Ter)
|
rs2099082250
|
|
|
NM_001164508.2(NEB):c.6546T>C (p.Ser2182=)
|
rs1575284577
|
|
|
NM_001164508.2(NEB):c.6547C>A (p.Pro2183Thr)
|
|
|
|
NM_001164508.2(NEB):c.6552A>G (p.Ala2184=)
|
|
|
|
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val)
|
rs373439650
|
|
|
NM_001164508.2(NEB):c.6558T>A (p.Ser2186=)
|
rs779503792
|
|
|
NM_001164508.2(NEB):c.6562del (p.Glu2188fs)
|
rs1558883594
|
|
|
NM_001164508.2(NEB):c.6564A>G (p.Glu2188=)
|
|
|
|
NM_001164508.2(NEB):c.6567G>A (p.Val2189=)
|
|
|
|
NM_001164508.2(NEB):c.6568G>A (p.Glu2190Lys)
|
rs2099082027
|
|
|
NM_001164508.2(NEB):c.6570G>A (p.Glu2190=)
|
rs2099082018
|
|
|
NM_001164508.2(NEB):c.6572del (p.Lys2191fs)
|
|
|
|
NM_001164508.2(NEB):c.6576C>T (p.Ala2192=)
|
rs2154147840
|
|
|
NM_001164508.2(NEB):c.6577A>G (p.Lys2193Glu)
|
|
|
|
NM_001164508.2(NEB):c.6591A>G (p.Glu2197=)
|
rs1553462437
|
|
|
NM_001164508.2(NEB):c.6594T>C (p.Tyr2198=)
|
rs2154147794
|
|
|
NM_001164508.2(NEB):c.6597C>T (p.Ala2199=)
|
rs2099081867
|
|
|
NM_001164508.2(NEB):c.6600T>C (p.Ser2200=)
|
rs2154147777
|
|
|
NM_001164508.2(NEB):c.6609del (p.Lys2203fs)
|
|
|
|
NM_001164508.2(NEB):c.660del (p.Tyr221fs)
|
rs2150663206
|
|
|
NM_001164508.2(NEB):c.6612C>T (p.Tyr2204=)
|
|
|
|
NM_001164508.2(NEB):c.6615C>A (p.Arg2205=)
|
|
|
|
NM_001164508.2(NEB):c.6615C>T (p.Arg2205=)
|
rs200018782
|
|
|
NM_001164508.2(NEB):c.6621C>T (p.His2207=)
|
|
|
|
NM_001164508.2(NEB):c.6623C>T (p.Pro2208Leu)
|
|
|
|
NM_001164508.2(NEB):c.6624G>C (p.Pro2208=)
|
|
|
|
NM_001164508.2(NEB):c.6629A>C (p.Asn2210Thr)
|
rs768864684
|
|
|
NM_001164508.2(NEB):c.6629A>G (p.Asn2210Ser)
|
rs768864684
|
|
|
NM_001164508.2(NEB):c.662A>G (p.Tyr221Cys)
|
rs571230045
|
|
|
NM_001164508.2(NEB):c.6636G>A (p.Gln2212=)
|
|
|
|
NM_001164508.2(NEB):c.6639del (p.Phe2213fs)
|
rs2154147691
|
|
|
NM_001164508.2(NEB):c.663T>C (p.Tyr221=)
|
|
|
|
NM_001164508.2(NEB):c.6642G>A (p.Lys2214=)
|
rs2154147684
|
|
|
NM_001164508.2(NEB):c.6648G>A (p.Leu2216=)
|
|
|
|
NM_001164508.2(NEB):c.6660G>A (p.Met2220Ile)
|
rs199766131
|
|
|
NM_001164508.2(NEB):c.666T>C (p.Asn222=)
|
|
|
|
NM_001164508.2(NEB):c.6673dup (p.Ala2225fs)
|
|
|
|
NM_001164508.2(NEB):c.6678G>A (p.Lys2226=)
|
rs755634045
|
|
|
NM_001164508.2(NEB):c.6679C>G (p.Gln2227Glu)
|
|
|
|
NM_001164508.2(NEB):c.6684T>C (p.Asn2228=)
|
|
|
|
NM_001164508.2(NEB):c.6702+11C>T
|
|
|
|
NM_001164508.2(NEB):c.6702+13G>A
|
|
|
|
NM_001164508.2(NEB):c.6702+14T>C
|
|
|
|
NM_001164508.2(NEB):c.6702+18C>T
|
|
|
|
NM_001164508.2(NEB):c.6702+20T>C
|
|
|
|
NM_001164508.2(NEB):c.6703-10C>T
|
rs780740443
|
|
|
NM_001164508.2(NEB):c.6703-10dup
|
|
|
|
NM_001164508.2(NEB):c.6703-13del
|
rs763294980
|
|
|
NM_001164508.2(NEB):c.6703-13dup
|
rs763294980
|
|
|
NM_001164508.2(NEB):c.6703-19T>G
|
|
|
|
NM_001164508.2(NEB):c.6703-20C>T
|
|
|
|
NM_001164508.2(NEB):c.6708A>G (p.Leu2236=)
|
rs2099076283
|
|
|
NM_001164508.2(NEB):c.6709_6710del (p.Tyr2237fs)
|
|
|
|
NM_001164508.2(NEB):c.6710del (p.Tyr2237fs)
|
rs2099076260
|
|
|
NM_001164508.2(NEB):c.6713C>G (p.Thr2238Ser)
|
|
|
|
NM_001164508.2(NEB):c.6713C>T (p.Thr2238Ile)
|
|
|
|
NM_001164508.2(NEB):c.6719A>G (p.Asp2240Gly)
|
rs1362776689
|
|
|
NM_001164508.2(NEB):c.6720T>C (p.Asp2240=)
|
rs921924356
|
|
|
NM_001164508.2(NEB):c.6722G>A (p.Trp2241Ter)
|
|
|
|
NM_001164508.2(NEB):c.672C>T (p.Ser224=)
|
|
|
|
NM_001164508.2(NEB):c.6730G>A (p.Asp2244Asn)
|
|
|
|
NM_001164508.2(NEB):c.6746A>C (p.His2249Pro)
|
|
|
|
NM_001164508.2(NEB):c.6747T>C (p.His2249=)
|
|
|
|
NM_001164508.2(NEB):c.6750G>A (p.Val2250=)
|
|
|
|
NM_001164508.2(NEB):c.6753del (p.Met2251fs)
|
rs2099075936
|
|
|
NM_001164508.2(NEB):c.6754C>T (p.Pro2252Ser)
|
|
|
|
NM_001164508.2(NEB):c.6756T>C (p.Pro2252=)
|
|
|
|
NM_001164508.2(NEB):c.6762A>C (p.Thr2254=)
|
rs563192073
|
|
|
NM_001164508.2(NEB):c.6762A>G (p.Thr2254=)
|
|
|
|
NM_001164508.2(NEB):c.6774A>G (p.Leu2258=)
|
rs2154146091
|
|
|
NM_001164508.2(NEB):c.6775C>T (p.Gln2259Ter)
|
rs773605767
|
|
|
NM_001164508.2(NEB):c.6778G>A (p.Ala2260Thr)
|
|
|
|
NM_001164508.2(NEB):c.6778G>C (p.Ala2260Pro)
|
|
|
|
NM_001164508.2(NEB):c.6780C>G (p.Ala2260=)
|
rs546132354
|
|
|
NM_001164508.2(NEB):c.6780C>T (p.Ala2260=)
|
|
|
|
NM_001164508.2(NEB):c.6783G>A (p.Lys2261=)
|
rs2099075727
|
|
|
NM_001164508.2(NEB):c.6803G>A (p.Ser2268Asn)
|
rs2099075647
|
|
|
NM_001164508.2(NEB):c.6807+17A>C
|
|
|
|
NM_001164508.2(NEB):c.6807+20_6807+23del
|
|
|
|
NM_001164508.2(NEB):c.6807+20_6807+24del
|
|
|
|
NM_001164508.2(NEB):c.6808-15A>G
|
|
|
|
NM_001164508.2(NEB):c.6808-19G>T
|
|
|
|
NM_001164508.2(NEB):c.6808-4T>A
|
rs1186944329
|
|
|
NM_001164508.2(NEB):c.6808-4T>C
|
rs1186944329
|
|
|
NM_001164508.2(NEB):c.6808-4del
|
rs2099060261
|
|
|
NM_001164508.2(NEB):c.6808-7dup
|
rs2099060261
|
|
|
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer)
|
rs1180339426
|
|
|
NM_001164508.2(NEB):c.681G>A (p.Leu227=)
|
|
|
|
NM_001164508.2(NEB):c.6824del (p.Gly2275fs)
|
rs2099060040
|
|
|
NM_001164508.2(NEB):c.6827G>T (p.Trp2276Leu)
|
|
|
|
NM_001164508.2(NEB):c.6828G>C (p.Trp2276Cys)
|
rs2099059984
|
|
|
NM_001164508.2(NEB):c.682A>T (p.Arg228Trp)
|
rs1363435897
|
|
|
NM_001164508.2(NEB):c.6831A>G (p.Glu2277=)
|
rs2154143356
|
|
|
NM_001164508.2(NEB):c.6843G>A (p.Lys2281=)
|
rs1575215956
|
|
|
NM_001164508.2(NEB):c.6851A>C (p.Tyr2284Ser)
|
rs778637750
|
|
|
NM_001164508.2(NEB):c.6852T>C (p.Tyr2284=)
|
|
|
|
NM_001164508.2(NEB):c.6861A>G (p.Pro2287=)
|
|
|
|
NM_001164508.2(NEB):c.6862G>C (p.Val2288Leu)
|
|
|
|
NM_001164508.2(NEB):c.6867T>C (p.Asp2289=)
|
rs2154143286
|
|
|
NM_001164508.2(NEB):c.6867_6869dup (p.Ala2290_Ile2291insAla)
|
|
|
|
NM_001164508.2(NEB):c.6870A>G (p.Ala2290=)
|
rs2154143270
|
|
|
NM_001164508.2(NEB):c.6873T>G (p.Ile2291Met)
|
rs1265000238
|
|
|
NM_001164508.2(NEB):c.6879A>G (p.Val2293=)
|
rs2154143235
|
|
|
NM_001164508.2(NEB):c.6884T>C (p.Leu2295Pro)
|
rs2099059670
|
|
|
NM_001164508.2(NEB):c.6884dup (p.Ala2296fs)
|
|
|
|
NM_001164508.2(NEB):c.6900A>G (p.Arg2300=)
|
rs1553457085
|
|
|
NM_001164508.2(NEB):c.6903C>T (p.Asp2301=)
|
rs376626113
|
|
|
NM_001164508.2(NEB):c.6914A>T (p.Asp2305Val)
|
|
|
|
NM_001164508.2(NEB):c.6915+1G>A
|
|
|
|
NM_001164508.2(NEB):c.6916-13T>C
|
|
|
|
NM_001164508.2(NEB):c.6916-16_6916-8del
|
rs2099021798
|
|
|
NM_001164508.2(NEB):c.6916-17_6916-16del
|
|
|
|
NM_001164508.2(NEB):c.6916-18T>C
|
|
|
|
NM_001164508.2(NEB):c.6916-18dup
|
|
|
|
NM_001164508.2(NEB):c.6916-5T>C
|
|
|
|
NM_001164508.2(NEB):c.6916-7A>G
|
rs2154135525
|
|
|
NM_001164508.2(NEB):c.6916-9T>C
|
rs2154135540
|
|
|
NM_001164508.2(NEB):c.6922T>A (p.Tyr2308Asn)
|
|
|
|
NM_001164508.2(NEB):c.6923A>G (p.Tyr2308Cys)
|
|
|
|
NM_001164508.2(NEB):c.6926A>C (p.Lys2309Thr)
|
|
|
|
NM_001164508.2(NEB):c.6927A>G (p.Lys2309=)
|
|
|
|
NM_001164508.2(NEB):c.6928C>A (p.Gln2310Lys)
|
|
|
|
NM_001164508.2(NEB):c.6928C>G (p.Gln2310Glu)
|
|
|
|
NM_001164508.2(NEB):c.6931G>A (p.Gly2311Ser)
|
rs757526825
|
|
|
NM_001164508.2(NEB):c.6935A>G (p.Tyr2312Cys)
|
|
|
|
NM_001164508.2(NEB):c.6938G>A (p.Arg2313Gln)
|
|
|
|
NM_001164508.2(NEB):c.6942G>A (p.Lys2314=)
|
|
|
|
NM_001164508.2(NEB):c.6945A>G (p.Gln2315=)
|
|
|
|
NM_001164508.2(NEB):c.6946C>G (p.Leu2316Val)
|
|
|
|
NM_001164508.2(NEB):c.6947_6954del (p.Leu2316fs)
|
|
|
|
NM_001164508.2(NEB):c.6948T>C (p.Leu2316=)
|
rs1275672191
|
|
|
NM_001164508.2(NEB):c.6950G>C (p.Gly2317Ala)
|
|
|
|
NM_001164508.2(NEB):c.6951C>T (p.Gly2317=)
|
rs1196967267
|
|
|
NM_001164508.2(NEB):c.6954C>G (p.His2318Gln)
|
|
|
|
NM_001164508.2(NEB):c.6956A>G (p.His2319Arg)
|
|
|
|
NM_001164508.2(NEB):c.6961G>A (p.Gly2321Arg)
|
rs1575132924
|
|
|
NM_001164508.2(NEB):c.6967C>A (p.Arg2323=)
|
|
|
|
NM_001164508.2(NEB):c.6975G>A (p.Leu2325=)
|
|
|
|
NM_001164508.2(NEB):c.6990A>G (p.Lys2330=)
|
rs2154135341
|
|
|
NM_001164508.2(NEB):c.6993del (p.Val2332fs)
|
rs2099021112
|
|
|
NM_001164508.2(NEB):c.6996G>A (p.Val2332=)
|
|
|
|
NM_001164508.2(NEB):c.69G>T (p.Val23=)
|
rs2099800863
|
|
|
NM_001164508.2(NEB):c.7003A>G (p.Met2335Val)
|
|
|
|
NM_001164508.2(NEB):c.7004T>C (p.Met2335Thr)
|
rs769646337
|
|
|
NM_001164508.2(NEB):c.7025G>C (p.Ser2342Thr)
|
rs372132667
|
|
|
NM_001164508.2(NEB):c.7026T>C (p.Ser2342=)
|
rs2154135288
|
|
|
NM_001164508.2(NEB):c.7030A>C (p.Arg2344=)
|
|
|
|
NM_001164508.2(NEB):c.7033G>C (p.Glu2345Gln)
|
|
|
|
NM_001164508.2(NEB):c.7035A>G (p.Glu2345=)
|
rs2154135279
|
|
|
NM_001164508.2(NEB):c.7039A>G (p.Lys2347Glu)
|
|
|
|
NM_001164508.2(NEB):c.7065T>A (p.Thr2355=)
|
rs2154135246
|
|
|
NM_001164508.2(NEB):c.706G>C (p.Ala236Pro)
|
|
|
|
NM_001164508.2(NEB):c.7071C>T (p.Phe2357=)
|
|
|
|
NM_001164508.2(NEB):c.7076G>C (p.Ser2359Thr)
|
|
|
|
NM_001164508.2(NEB):c.708T>C (p.Ala236=)
|
|
|
|
NM_001164508.2(NEB):c.708T>G (p.Ala236=)
|
rs2150661224
|
|
|
NM_001164508.2(NEB):c.7092G>A (p.Leu2364=)
|
|
|
|
NM_001164508.2(NEB):c.7093G>T (p.Gly2365Ter)
|
|
|
|
NM_001164508.2(NEB):c.7095A>C (p.Gly2365=)
|
|
|
|
NM_001164508.2(NEB):c.7096G>C (p.Val2366Leu)
|
|
|
|
NM_001164508.2(NEB):c.709C>T (p.Leu237Phe)
|
|
|
|
NM_001164508.2(NEB):c.7101A>G (p.Val2367=)
|
|
|
|
NM_001164508.2(NEB):c.7102C>G (p.Leu2368Val)
|
rs1553449170
|
|
|
NM_001164508.2(NEB):c.7102C>T (p.Leu2368=)
|
|
|
|
NM_001164508.2(NEB):c.7107C>T (p.Ala2369=)
|
|
|
|
NM_001164508.2(NEB):c.711C>T (p.Leu237=)
|
rs1421194169
|
|
|
NM_001164508.2(NEB):c.7135G>A (p.Val2379Met)
|
|
|
|
NM_001164508.2(NEB):c.7135_7140del (p.Val2379_Asp2380del)
|
rs1326831435
|
|
|
NM_001164508.2(NEB):c.7138G>A (p.Asp2380Asn)
|
|
|
|
NM_001164508.2(NEB):c.7144A>C (p.Lys2382Gln)
|
|
|
|
NM_001164508.2(NEB):c.7144A>G (p.Lys2382Glu)
|
|
|
|
NM_001164508.2(NEB):c.7152C>A (p.Tyr2384Ter)
|
rs2099020340
|
|
|
NM_001164508.2(NEB):c.7157A>G (p.His2386Arg)
|
|
|
|
NM_001164508.2(NEB):c.7160A>G (p.Gln2387Arg)
|
rs2099020273
|
|
|
NM_001164508.2(NEB):c.7161G>A (p.Gln2387=)
|
rs1388356625
|
|
|
NM_001164508.2(NEB):c.7163G>A (p.Trp2388Ter)
|
rs2154135091
|
|
|
NM_001164508.2(NEB):c.717+10del
|
|
|
|
NM_001164508.2(NEB):c.717+17T>C
|
|
|
|
NM_001164508.2(NEB):c.717+17T>G
|
|
|
|
NM_001164508.2(NEB):c.717+19G>A
|
|
|
|
NM_001164508.2(NEB):c.717+1G>A
|
rs1577833924
|
|
|
NM_001164508.2(NEB):c.7173G>A (p.Leu2391=)
|
|
|
|
NM_001164508.2(NEB):c.7176T>C (p.Pro2392=)
|
rs1042667385
|
|
|
NM_001164508.2(NEB):c.7179T>C (p.Asp2393=)
|
rs2154135050
|
|
|
NM_001164508.2(NEB):c.718-15_718-14del
|
rs763753126
|
|
|
NM_001164508.2(NEB):c.718-1G>A
|
|
|
|
NM_001164508.2(NEB):c.718-20C>T
|
|
|
|
NM_001164508.2(NEB):c.718-5A>T
|
|
|
|
NM_001164508.2(NEB):c.718-8T>C
|
|
|
|
NM_001164508.2(NEB):c.7182G>A (p.Gln2394=)
|
|
|
|
NM_001164508.2(NEB):c.7188T>C (p.Asp2396=)
|
rs2154135035
|
|
|
NM_001164508.2(NEB):c.7194G>A (p.Val2398=)
|
|
|
|
NM_001164508.2(NEB):c.7194G>C (p.Val2398=)
|
|
|
|
NM_001164508.2(NEB):c.7198G>A (p.Ala2400Thr)
|
|
|
|
NM_001164508.2(NEB):c.71C>A (p.Pro24Gln)
|
|
|
|
NM_001164508.2(NEB):c.7205A>G (p.Lys2402Arg)
|
|
|
|
NM_001164508.2(NEB):c.7206A>G (p.Lys2402=)
|
|
|
|
NM_001164508.2(NEB):c.7207G>C (p.Val2403Leu)
|
|
|
|
NM_001164508.2(NEB):c.7208T>A (p.Val2403Asp)
|
|
|
|
NM_001164508.2(NEB):c.7211A>G (p.Tyr2404Cys)
|
|
|
|
NM_001164508.2(NEB):c.7218G>T (p.Leu2406=)
|
|
|
|
NM_001164508.2(NEB):c.7219C>T (p.Gln2407Ter)
|
rs2099019846
|
|
|
NM_001164508.2(NEB):c.7227+7T>C
|
rs752127208
|
|
|
NM_001164508.2(NEB):c.7227+9C>G
|
rs2154134931
|
|
|
NM_001164508.2(NEB):c.7228-18_7228-15dup
|
rs778540783
|
|
|
NM_001164508.2(NEB):c.7228-3C>G
|
rs577996029
|
|
|
NM_001164508.2(NEB):c.7228-6T>G
|
|
|
|
NM_001164508.2(NEB):c.7228-7T>C
|
rs2154134476
|
|
|
NM_001164508.2(NEB):c.7228-8T>A
|
rs2154134484
|
|
|
NM_001164508.2(NEB):c.7236T>C (p.Tyr2412=)
|
|
|
|
NM_001164508.2(NEB):c.724del (p.Tyr242fs)
|
rs1577548638
|
|
|
NM_001164508.2(NEB):c.7253G>A (p.Trp2418Ter)
|
rs1575122070
|
|
|
NM_001164508.2(NEB):c.7260A>G (p.Arg2420=)
|
|
|
|
NM_001164508.2(NEB):c.7265T>G (p.Ile2422Arg)
|
|
|
|
NM_001164508.2(NEB):c.7279T>C (p.Leu2427=)
|
rs564510167
|
|
|
NM_001164508.2(NEB):c.727A>G (p.Lys243Glu)
|
|
|
|
NM_001164508.2(NEB):c.7282G>A (p.Gly2428Ser)
|
|
|
|
NM_001164508.2(NEB):c.7284T>A (p.Gly2428=)
|
rs756723106
|
|
|
NM_001164508.2(NEB):c.7284T>G (p.Gly2428=)
|
rs756723106
|
|
|
NM_001164508.2(NEB):c.7289T>C (p.Leu2430Ser)
|
|
|
|
NM_001164508.2(NEB):c.728A>G (p.Lys243Arg)
|
rs1031592589
|
|
|
NM_001164508.2(NEB):c.7296A>G (p.Ala2432=)
|
rs2154134321
|
|
|
NM_001164508.2(NEB):c.72G>A (p.Pro24=)
|
|
|
|
NM_001164508.2(NEB):c.72G>T (p.Pro24=)
|
|
|
|
NM_001164508.2(NEB):c.7305C>T (p.Asn2435=)
|
rs2099016941
|
|
|
NM_001164508.2(NEB):c.7308G>A (p.Lys2436=)
|
rs2154134306
|
|
|
NM_001164508.2(NEB):c.7309C>A (p.Arg2437=)
|
|
|
|
NM_001164508.2(NEB):c.7309C>G (p.Arg2437Gly)
|
|
|
|
NM_001164508.2(NEB):c.7310G>T (p.Arg2437Leu)
|
rs61730780
|
|
|
NM_001164508.2(NEB):c.7312G>A (p.Ala2438Thr)
|
rs202233025
|
|
|
NM_001164508.2(NEB):c.7318G>A (p.Glu2440Lys)
|
|
|
|
NM_001164508.2(NEB):c.7324A>G (p.Ile2442Val)
|
rs1553447698
|
|
|
NM_001164508.2(NEB):c.7328G>T (p.Ser2443Ile)
|
|
|
|
NM_001164508.2(NEB):c.732del (p.Gly245fs)
|
rs1486623736
|
|
|
NM_001164508.2(NEB):c.7335G>A (p.Lys2445=)
|
rs886043134
|
|
|
NM_001164508.2(NEB):c.7335_7338del (p.Lys2445fs)
|
rs2154134253
|
|
|
NM_001164508.2(NEB):c.7339T>C (p.Tyr2447His)
|
|
|
|
NM_001164508.2(NEB):c.7344T>A (p.Arg2448=)
|
|
|
|
NM_001164508.2(NEB):c.7347G>A (p.Gln2449=)
|
rs769042183
|
|
|
NM_001164508.2(NEB):c.7356C>T (p.Asp2452=)
|
|
|
|
NM_001164508.2(NEB):c.7369A>C (p.Thr2457Pro)
|
|
|
|
NM_001164508.2(NEB):c.736del (p.Leu246fs)
|
rs2099762296
|
|
|
NM_001164508.2(NEB):c.7371C>G (p.Thr2457=)
|
rs2154134156
|
|
|
NM_001164508.2(NEB):c.7371C>T (p.Thr2457=)
|
|
|
|
NM_001164508.2(NEB):c.7372A>G (p.Ser2458Gly)
|
|
|
|
NM_001164508.2(NEB):c.7373_7374delinsAA (p.Ser2458Lys)
|
|
|
|
NM_001164508.2(NEB):c.7377T>A (p.Ile2459=)
|
|
|
|
NM_001164508.2(NEB):c.7386C>T (p.Ala2462=)
|
rs770687273
|
|
|
NM_001164508.2(NEB):c.738C>G (p.Leu246=)
|
|
|
|
NM_001164508.2(NEB):c.7390G>A (p.Asp2464Asn)
|
|
|
|
NM_001164508.2(NEB):c.7395A>T (p.Ile2465=)
|
|
|
|
NM_001164508.2(NEB):c.7398T>A (p.Val2466=)
|
rs754735623
|
|
|
NM_001164508.2(NEB):c.7398T>C (p.Val2466=)
|
rs754735623
|
|
|
NM_001164508.2(NEB):c.739del (p.Ala247fs)
|
rs2150350376
|
|
|
NM_001164508.2(NEB):c.7407G>A (p.Lys2469=)
|
rs2154134074
|
|
|
NM_001164508.2(NEB):c.7416C>T (p.Ala2472=)
|
rs2154134055
|
|
|
NM_001164508.2(NEB):c.741T>C (p.Ala247=)
|
|
|
|
NM_001164508.2(NEB):c.7421A>C (p.Asn2474Thr)
|
|
|
|
NM_001164508.2(NEB):c.7431+7A>C
|
rs2099015777
|
|
|
NM_001164508.2(NEB):c.7431+9C>T
|
rs1486843790
|
|
|
NM_001164508.2(NEB):c.7432-10_7432-4del
|
|
|
|
NM_001164508.2(NEB):c.7432-14A>G
|
|
|
|
NM_001164508.2(NEB):c.7432-15T>C
|
|
|
|
NM_001164508.2(NEB):c.7432-19T>G
|
|
|
|
NM_001164508.2(NEB):c.7432-1G>A
|
rs2154122716
|
|
|
NM_001164508.2(NEB):c.7432-8T>C
|
rs1575009726
|
|
|
NM_001164508.2(NEB):c.7434A>T (p.Arg2478Ser)
|
|
|
|
NM_001164508.2(NEB):c.7449T>C (p.Ala2483=)
|
rs2154122656
|
|
|
NM_001164508.2(NEB):c.7453G>A (p.Asp2485Asn)
|
|
|
|
NM_001164508.2(NEB):c.7458A>G (p.Lys2486=)
|
rs2154122629
|
|
|
NM_001164508.2(NEB):c.745C>T (p.Gln249Ter)
|
|
|
|
NM_001164508.2(NEB):c.7469A>C (p.Gln2490Pro)
|
rs1446110323
|
|
|
NM_001164508.2(NEB):c.7470G>A (p.Gln2490=)
|
rs2154122611
|
|
|
NM_001164508.2(NEB):c.7473C>T (p.Ile2491=)
|
rs760783298
|
|
|
NM_001164508.2(NEB):c.7485T>C (p.Pro2495=)
|
|
|
|
NM_001164508.2(NEB):c.7487A>G (p.Asp2496Gly)
|
rs767734665
|
|
|
NM_001164508.2(NEB):c.7494T>C (p.Pro2498=)
|
rs2154122534
|
|
|
NM_001164508.2(NEB):c.7497C>T (p.Asp2499=)
|
rs2154122524
|
|
|
NM_001164508.2(NEB):c.7498A>G (p.Ile2500Val)
|
|
|
|
NM_001164508.2(NEB):c.74G>A (p.Gly25Glu)
|
|
|
|
NM_001164508.2(NEB):c.7500T>C (p.Ile2500=)
|
|
|
|
NM_001164508.2(NEB):c.7515A>C (p.Ala2505=)
|
rs763516008
|
|
|
NM_001164508.2(NEB):c.7515A>G (p.Ala2505=)
|
|
|
|
NM_001164508.2(NEB):c.7518C>T (p.Asn2506=)
|
|
|
|
NM_001164508.2(NEB):c.7523T>C (p.Ile2508Thr)
|
|
|
|
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs)
|
rs878854368
|
|
|
NM_001164508.2(NEB):c.7527_7531del (p.Asn2509fs)
|
rs2154122471
|
|
|
NM_001164508.2(NEB):c.7533T>C (p.Ser2511=)
|
|
|
|
NM_001164508.2(NEB):c.7536+11A>G
|
rs2154122419
|
|
|
NM_001164508.2(NEB):c.7536+12A>G
|
|
|
|
NM_001164508.2(NEB):c.7536+15T>C
|
|
|
|
NM_001164508.2(NEB):c.7536+15T>G
|
|
|
|
NM_001164508.2(NEB):c.7536+17A>G
|
|
|
|
NM_001164508.2(NEB):c.7536+1G>A
|
|
|
|
NM_001164508.2(NEB):c.7536+20A>G
|
|
|
|
NM_001164508.2(NEB):c.7536+7T>C
|
|
|
|
NM_001164508.2(NEB):c.7536+8T>A
|
|
|
|
NM_001164508.2(NEB):c.7537-11T>C
|
|
|
|
NM_001164508.2(NEB):c.7537-12A>G
|
|
|
|
NM_001164508.2(NEB):c.7538A>G (p.Lys2513Arg)
|
rs190059793
|
|
|
NM_001164508.2(NEB):c.7543T>C (p.Tyr2515His)
|
|
|
|
NM_001164508.2(NEB):c.7543dup (p.Tyr2515fs)
|
|
|
|
NM_001164508.2(NEB):c.7546C>T (p.Arg2516Ter)
|
|
|
|
NM_001164508.2(NEB):c.7549_7551del (p.Met2517del)
|
rs1553985641
|
|
|
NM_001164508.2(NEB):c.7551_7558del (p.Met2517fs)
|
|
|
|
NM_001164508.2(NEB):c.7569G>C (p.Lys2523Asn)
|
|
|
|
NM_001164508.2(NEB):c.756A>G (p.Gln252=)
|
rs745503224
|
|
|
NM_001164508.2(NEB):c.7588C>T (p.Pro2530Ser)
|
|
|
|
NM_001164508.2(NEB):c.7599C>G (p.Ala2533=)
|
|
|
|
NM_001164508.2(NEB):c.759C>T (p.Phe253=)
|
rs1577547012
|
|
|
NM_001164508.2(NEB):c.75A>G (p.Gly25=)
|
rs2150993484
|
|
|
NM_001164508.2(NEB):c.7603C>A (p.Pro2535Thr)
|
|
|
|
NM_001164508.2(NEB):c.7611del (p.Ala2538fs)
|
|
|
|
NM_001164508.2(NEB):c.7623C>G (p.Ala2541=)
|
rs371570995
|
|
|
NM_001164508.2(NEB):c.7626C>G (p.Ser2542=)
|
rs1574957341
|
|
|
NM_001164508.2(NEB):c.7627C>A (p.Arg2543=)
|
rs368148074
|
|
|
NM_001164508.2(NEB):c.7629G>C (p.Arg2543=)
|
|
|
|
NM_001164508.2(NEB):c.7644+17T>C
|
|
|
|
NM_001164508.2(NEB):c.7644+8T>G
|
rs2154117770
|
|
|
NM_001164508.2(NEB):c.7644A>G (p.Glu2548=)
|
rs916950454
|
|
|
NM_001164508.2(NEB):c.7645-12T>A
|
|
|
|
NM_001164508.2(NEB):c.7645-14dup
|
rs1299254549
|
|
|
NM_001164508.2(NEB):c.7645-15A>T
|
|
|
|
NM_001164508.2(NEB):c.7645-16_7645-15del
|
|
|
|
NM_001164508.2(NEB):c.7645-6C>T
|
|
|
|
NM_001164508.2(NEB):c.7645-6dup
|
|
|
|
NM_001164508.2(NEB):c.7645-7del
|
|
|
|
NM_001164508.2(NEB):c.7646A>G (p.Tyr2549Cys)
|
rs1553984101
|
|
|
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)
|
rs1373493309
|
|
|
NM_001164508.2(NEB):c.7647C>T (p.Tyr2549=)
|
|
|
|
NM_001164508.2(NEB):c.764C>G (p.Pro255Arg)
|
rs1553663195
|
|
|
NM_001164508.2(NEB):c.7650G>A (p.Lys2550=)
|
|
|
|
NM_001164508.2(NEB):c.7667G>A (p.Arg2556His)
|
|
|
|
NM_001164508.2(NEB):c.7667G>T (p.Arg2556Leu)
|
|
|
|
NM_001164508.2(NEB):c.7668C>T (p.Arg2556=)
|
|
|
|
NM_001164508.2(NEB):c.7679G>T (p.Gly2560Val)
|
|
|
|
NM_001164508.2(NEB):c.7692T>A (p.Gly2564=)
|
rs773807220
|
|
|
NM_001164508.2(NEB):c.7697G>A (p.Arg2566Gln)
|
|
|
|
NM_001164508.2(NEB):c.7697G>C (p.Arg2566Pro)
|
|
|
|
NM_001164508.2(NEB):c.7698G>C (p.Arg2566=)
|
rs2154116717
|
|
|
NM_001164508.2(NEB):c.7701C>T (p.Asn2567=)
|
rs2098921858
|
|
|
NM_001164508.2(NEB):c.7704T>A (p.Ile2568=)
|
|
|
|
NM_001164508.2(NEB):c.7706A>C (p.Glu2569Ala)
|
|
|
|
NM_001164508.2(NEB):c.7707A>G (p.Glu2569=)
|
rs2154116661
|
|
|
NM_001164508.2(NEB):c.7710T>A (p.Asp2570Glu)
|
|
|
|
NM_001164508.2(NEB):c.7710T>C (p.Asp2570=)
|
|
|
|
NM_001164508.2(NEB):c.7713C>T (p.Asp2571=)
|
|
|
|
NM_001164508.2(NEB):c.771_772inv (p.Asp258Asn)
|
|
|
|
NM_001164508.2(NEB):c.7733T>C (p.Met2578Thr)
|
|
|
|
NM_001164508.2(NEB):c.7740G>A (p.Val2580=)
|
rs2098921464
|
|
|
NM_001164508.2(NEB):c.7743C>T (p.Ala2581=)
|
|
|
|
NM_001164508.2(NEB):c.7751A>G (p.Gln2584Arg)
|
|
|
|
NM_001164508.2(NEB):c.7761G>A (p.Arg2587=)
|
rs869312958
|
|
|
NM_001164508.2(NEB):c.7762G>A (p.Glu2588Lys)
|
rs756738995
|
|
|
NM_001164508.2(NEB):c.7764G>A (p.Glu2588=)
|
|
|
|
NM_001164508.2(NEB):c.7769A>G (p.Lys2590Arg)
|
|
|
|
NM_001164508.2(NEB):c.776C>T (p.Pro259Leu)
|
|
|
|
NM_001164508.2(NEB):c.7770G>A (p.Lys2590=)
|
rs952871710
|
|
|
NM_001164508.2(NEB):c.7785G>A (p.Lys2595=)
|
|
|
|
NM_001164508.2(NEB):c.778C>T (p.Pro260Ser)
|
rs1425616065
|
|
|
NM_001164508.2(NEB):c.78+12C>T
|
|
|
|
NM_001164508.2(NEB):c.78+16C>A
|
rs369843963
|
|
|
NM_001164508.2(NEB):c.78+19C>T
|
|
|
|
NM_001164508.2(NEB):c.78+8C>A
|
rs1178512243
|
|
|
NM_001164508.2(NEB):c.78+9C>G
|
rs373141155
|
|
|
NM_001164508.2(NEB):c.78+9C>T
|
rs373141155
|
|
|
NM_001164508.2(NEB):c.7802G>A (p.Ser2601Asn)
|
|
|
|
NM_001164508.2(NEB):c.7803C>T (p.Ser2601=)
|
rs1157483366
|
|
|
NM_001164508.2(NEB):c.7821G>A (p.Leu2607=)
|
rs2154116437
|
|
|
NM_001164508.2(NEB):c.7824G>C (p.Gly2608=)
|
rs1185596471
|
|
|
NM_001164508.2(NEB):c.7831T>C (p.Leu2611=)
|
rs772164378
|
|
|
NM_001164508.2(NEB):c.7836C>T (p.Ala2612=)
|
|
|
|
NM_001164508.2(NEB):c.7837_7839delinsCAC (p.Lys2613His)
|
|
|
|
NM_001164508.2(NEB):c.783T>C (p.Asp261=)
|
rs184395708
|
|
|
NM_001164508.2(NEB):c.7844G>T (p.Cys2615Phe)
|
rs749508488
|
|
|
NM_001164508.2(NEB):c.7851C>A (p.Thr2617=)
|
rs1553982484
|
|
|
NM_001164508.2(NEB):c.7851C>G (p.Thr2617=)
|
|
|
|
NM_001164508.2(NEB):c.7857C>T (p.Val2619=)
|
|
|
|
NM_001164508.2(NEB):c.7865T>C (p.Val2622Ala)
|
rs563691738
|
|
|
NM_001164508.2(NEB):c.7865T>G (p.Val2622Gly)
|
rs563691738
|
|
|
NM_001164508.2(NEB):c.7867G>A (p.Asp2623Asn)
|
rs543795912
|
|
|
NM_001164508.2(NEB):c.7872C>T (p.Tyr2624=)
|
|
|
|
NM_001164508.2(NEB):c.7882C>G (p.Leu2628Val)
|
rs1222037893
|
|
|
NM_001164508.2(NEB):c.7882C>T (p.Leu2628=)
|
rs1222037893
|
|
|
NM_001164508.2(NEB):c.7884G>A (p.Leu2628=)
|
rs1574938723
|
|
|
NM_001164508.2(NEB):c.7887C>T (p.His2629=)
|
|
|
|
NM_001164508.2(NEB):c.7892G>A (p.Trp2631Ter)
|
rs2098919758
|
|
|
NM_001164508.2(NEB):c.7899C>T (p.Cys2633=)
|
rs2098919716
|
|
|
NM_001164508.2(NEB):c.78G>A (p.Glu26=)
|
rs1553702617
|
|
|
NM_001164508.2(NEB):c.79-11C>G
|
|
|
|
NM_001164508.2(NEB):c.79-13A>G
|
|
|
|
NM_001164508.2(NEB):c.79-15A>G
|
rs1011570211
|
|
|
NM_001164508.2(NEB):c.79-18T>C
|
|
|
|
NM_001164508.2(NEB):c.79-18T>G
|
|
|
|
NM_001164508.2(NEB):c.79-1G>A
|
|
|
|
NM_001164508.2(NEB):c.79-20A>C
|
|
|
|
NM_001164508.2(NEB):c.79-20A>G
|
|
|
|
NM_001164508.2(NEB):c.79-8A>C
|
rs2150926372
|
|
|
NM_001164508.2(NEB):c.7900del (p.Leu2634fs)
|
|
|
|
NM_001164508.2(NEB):c.7902G>A (p.Leu2634=)
|
rs1213159316
|
|
|
NM_001164508.2(NEB):c.7913_7914delinsAT (p.Ser2638Asn)
|
rs1574937918
|
|
|
NM_001164508.2(NEB):c.7915G>A (p.Asp2639Asn)
|
|
|
|
NM_001164508.2(NEB):c.7920C>G (p.Val2640=)
|
|
|
|
NM_001164508.2(NEB):c.7925A>G (p.His2642Arg)
|
|
|
|
NM_001164508.2(NEB):c.7926T>C (p.His2642=)
|
|
|
|
NM_001164508.2(NEB):c.7930C>T (p.Arg2644Trp)
|
|
|
|
NM_001164508.2(NEB):c.7941T>C (p.Tyr2647=)
|
|
|
|
NM_001164508.2(NEB):c.7956+13T>C
|
|
|
|
NM_001164508.2(NEB):c.7956+20T>A
|
|
|
|
NM_001164508.2(NEB):c.7956+9A>G
|
|
|
|
NM_001164508.2(NEB):c.7956+9A>T
|
rs1280854795
|
|
|
NM_001164508.2(NEB):c.7957-10G>A
|
|
|
|
NM_001164508.2(NEB):c.7957-13C>G
|
|
|
|
NM_001164508.2(NEB):c.7957-17G>A
|
|
|
|
NM_001164508.2(NEB):c.7957-17G>C
|
|
|
|
NM_001164508.2(NEB):c.7957-17G>T
|
|
|
|
NM_001164508.2(NEB):c.7957-20T>A
|
|
|
|
NM_001164508.2(NEB):c.7957-7C>A
|
|
|
|
NM_001164508.2(NEB):c.7957-7C>T
|
|
|
|
NM_001164508.2(NEB):c.7957-8A>C
|
|
|
|
NM_001164508.2(NEB):c.795C>T (p.Ala265=)
|
rs758702606
|
|
|
NM_001164508.2(NEB):c.7962G>A (p.Leu2654=)
|
rs947598445
|
|
|
NM_001164508.2(NEB):c.7962G>T (p.Leu2654Phe)
|
|
|
|
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys)
|
rs1389374032
|
|
|
NM_001164508.2(NEB):c.7968G>A (p.Lys2656=)
|
|
|
|
NM_001164508.2(NEB):c.7968G>C (p.Lys2656Asn)
|
|
|
|
NM_001164508.2(NEB):c.7980G>A (p.Gln2660=)
|
|
|
|
NM_001164508.2(NEB):c.7982G>A (p.Trp2661Ter)
|
|
|
|
NM_001164508.2(NEB):c.7983G>T (p.Trp2661Cys)
|
rs756956766
|
|
|
NM_001164508.2(NEB):c.7984del (p.Trp2661_Leu2662insTer)
|
rs2098910159
|
|
|
NM_001164508.2(NEB):c.7986A>G (p.Leu2662=)
|
rs931355796
|
|
|
NM_001164508.2(NEB):c.7993A>T (p.Ile2665Phe)
|
rs2098910017
|
|
|
NM_001164508.2(NEB):c.7997del (p.Gly2666fs)
|
rs2098909937
|
|
|
NM_001164508.2(NEB):c.8019C>A (p.Leu2673=)
|
rs755883171
|
|
|
NM_001164508.2(NEB):c.8019C>G (p.Leu2673=)
|
rs755883171
|
|
|
NM_001164508.2(NEB):c.8025T>C (p.Asp2675=)
|
rs2154114713
|
|
|
NM_001164508.2(NEB):c.8026G>A (p.Glu2676Lys)
|
|
|
|
NM_001164508.2(NEB):c.8027A>G (p.Glu2676Gly)
|
rs2154114705
|
|
|
NM_001164508.2(NEB):c.8029A>G (p.Lys2677Glu)
|
|
|
|
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)
|
rs398124172
|
|
|
NM_001164508.2(NEB):c.8035A>G (p.Lys2679Glu)
|
rs549227905
|
|
|
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter)
|
rs1057516676
|
|
|
NM_001164508.2(NEB):c.8042C>T (p.Ala2681Val)
|
|
|
|
NM_001164508.2(NEB):c.8043C>A (p.Ala2681=)
|
rs2154114675
|
|
|
NM_001164508.2(NEB):c.8047C>A (p.Gln2683Lys)
|
rs2154114662
|
|
|
NM_001164508.2(NEB):c.8055G>A (p.Leu2685=)
|
|
|
|
NM_001164508.2(NEB):c.8056del (p.Ser2686fs)
|
|
|
|
NM_001164508.2(NEB):c.8064T>C (p.His2688=)
|
rs1057523363
|
|
|
NM_001164508.2(NEB):c.8068T>C (p.Tyr2690His)
|
|
|
|
NM_001164508.2(NEB):c.8070C>T (p.Tyr2690=)
|
|
|
|
NM_001164508.2(NEB):c.807C>A (p.Thr269=)
|
rs1430006856
|
|
|
NM_001164508.2(NEB):c.8082A>T (p.Pro2694=)
|
|
|
|
NM_001164508.2(NEB):c.8088A>G (p.Gln2696=)
|
|
|
|
NM_001164508.2(NEB):c.8090T>C (p.Phe2697Ser)
|
|
|
|
NM_001164508.2(NEB):c.8094G>A (p.Lys2698=)
|
|
|
|
NM_001164508.2(NEB):c.8103C>T (p.Ser2701=)
|
rs1257370102
|
|
|
NM_001164508.2(NEB):c.8106T>C (p.Leu2702=)
|
|
|
|
NM_001164508.2(NEB):c.8111A>C (p.Asp2704Ala)
|
rs2098907855
|
|
|
NM_001164508.2(NEB):c.8111A>T (p.Asp2704Val)
|
|
|
|
NM_001164508.2(NEB):c.8121A>G (p.Pro2707=)
|
rs1574917544
|
|
|
NM_001164508.2(NEB):c.8126T>G (p.Val2709Gly)
|
|
|
|
NM_001164508.2(NEB):c.8128T>C (p.Leu2710=)
|
rs2098907461
|
|
|
NM_001164508.2(NEB):c.8146A>G (p.Ile2716Val)
|
rs1574917037
|
|
|
NM_001164508.2(NEB):c.814G>A (p.Val272Met)
|
|
|
|
NM_001164508.2(NEB):c.8151C>T (p.Thr2717=)
|
rs2154114447
|
|
|
NM_001164508.2(NEB):c.8159A>C (p.His2720Pro)
|
|
|
|
NM_001164508.2(NEB):c.8160+10A>G
|
rs2154114405
|
|
|
NM_001164508.2(NEB):c.8160+16G>T
|
|
|
|
NM_001164508.2(NEB):c.8160+17_8160+20del
|
|
|
|
NM_001164508.2(NEB):c.8160+19T>G
|
|
|
|
NM_001164508.2(NEB):c.8160+20G>C
|
|
|
|
NM_001164508.2(NEB):c.8160+7C>A
|
|
|
|
NM_001164508.2(NEB):c.8161-11G>A
|
|
|
|
NM_001164508.2(NEB):c.8161-20T>A
|
|
|
|
NM_001164508.2(NEB):c.8161-4T>G
|
|
|
|
NM_001164508.2(NEB):c.8161-6dup
|
|
|
|
NM_001164508.2(NEB):c.8161C>A (p.Arg2721Ser)
|
|
|
|
NM_001164508.2(NEB):c.8161C>T (p.Arg2721Cys)
|
rs570763682
|
|
|
NM_001164508.2(NEB):c.8163C>T (p.Arg2721=)
|
rs1574905085
|
|
|
NM_001164508.2(NEB):c.816G>T (p.Val272=)
|
|
|
|
NM_001164508.2(NEB):c.8171C>T (p.Thr2724Ile)
|
|
|
|
NM_001164508.2(NEB):c.8187A>G (p.Lys2729=)
|
rs1466641302
|
|
|
NM_001164508.2(NEB):c.818G>A (p.Ser273Asn)
|
|
|
|
NM_001164508.2(NEB):c.8190T>A (p.Asp2730Glu)
|
|
|
|
NM_001164508.2(NEB):c.8200G>C (p.Val2734Leu)
|
|
|
|
NM_001164508.2(NEB):c.8203C>G (p.His2735Asp)
|
rs759848500
|
|
|
NM_001164508.2(NEB):c.820A>G (p.Lys274Glu)
|
|
|
|
NM_001164508.2(NEB):c.8213C>T (p.Pro2738Leu)
|
|
|
|
NM_001164508.2(NEB):c.8217T>C (p.Asp2739=)
|
rs568197703
|
|
|
NM_001164508.2(NEB):c.8219C>A (p.Thr2740Asn)
|
|
|
|
NM_001164508.2(NEB):c.8219C>T (p.Thr2740Ile)
|
rs763429938
|
|
|
NM_001164508.2(NEB):c.822+13A>G
|
rs1057523586
|
|
|
NM_001164508.2(NEB):c.822+1G>A
|
rs2099762097
|
|
|
NM_001164508.2(NEB):c.822+7A>G
|
rs2099762082
|
|
|
NM_001164508.2(NEB):c.822+8A>G
|
rs2150347724
|
|
|
NM_001164508.2(NEB):c.8221C>T (p.Pro2741Ser)
|
|
|
|
NM_001164508.2(NEB):c.823-11C>A
|
|
|
|
NM_001164508.2(NEB):c.823-11C>T
|
|
|
|
NM_001164508.2(NEB):c.823-5dup
|
|
|
|
NM_001164508.2(NEB):c.8232A>G (p.Leu2744=)
|
|
|
|
NM_001164508.2(NEB):c.8234T>G (p.Leu2745Ter)
|
|
|
|
NM_001164508.2(NEB):c.8247C>T (p.Asn2749=)
|
rs1424462476
|
|
|
NM_001164508.2(NEB):c.8251G>A (p.Val2751Ile)
|
|
|
|
NM_001164508.2(NEB):c.8265+11T>C
|
|
|
|
NM_001164508.2(NEB):c.8265+13T>G
|
|
|
|
NM_001164508.2(NEB):c.8265+18A>G
|
|
|
|
NM_001164508.2(NEB):c.8265+1G>A
|
rs1131691547
|
|
|
NM_001164508.2(NEB):c.8265+1G>T
|
|
|
|
NM_001164508.2(NEB):c.8266-12T>C
|
|
|
|
NM_001164508.2(NEB):c.8266-14A>G
|
|
|
|
NM_001164508.2(NEB):c.8266-15T>C
|
|
|
|
NM_001164508.2(NEB):c.8266-17A>C
|
|
|
|
NM_001164508.2(NEB):c.8266-17A>G
|
|
|
|
NM_001164508.2(NEB):c.8266-18T>C
|
|
|
|
NM_001164508.2(NEB):c.8266-19C>T
|
|
|
|
NM_001164508.2(NEB):c.8269T>C (p.Leu2757=)
|
|
|
|
NM_001164508.2(NEB):c.8269_8270dup (p.Leu2757fs)
|
rs2154113080
|
|
|
NM_001164508.2(NEB):c.8271G>A (p.Leu2757=)
|
rs1574897876
|
|
|
NM_001164508.2(NEB):c.8277G>A (p.Lys2759=)
|
rs751972598
|
|
|
NM_001164508.2(NEB):c.8281G>A (p.Gly2761Ser)
|
|
|
|
NM_001164508.2(NEB):c.8283C>G (p.Gly2761=)
|
|
|
|
NM_001164508.2(NEB):c.8283C>T (p.Gly2761=)
|
rs763584465
|
|
|
NM_001164508.2(NEB):c.8286A>G (p.Leu2762=)
|
rs1485633105
|
|
|
NM_001164508.2(NEB):c.8293G>A (p.Ala2765Thr)
|
|
|
|
NM_001164508.2(NEB):c.8295C>T (p.Ala2765=)
|
rs2154113022
|
|
|
NM_001164508.2(NEB):c.8298G>A (p.Lys2766=)
|
|
|
|
NM_001164508.2(NEB):c.8301G>A (p.Arg2767=)
|
|
|
|
NM_001164508.2(NEB):c.8304A>G (p.Lys2768=)
|
|
|
|
NM_001164508.2(NEB):c.8305G>A (p.Gly2769Ser)
|
|
|
|
NM_001164508.2(NEB):c.8306G>T (p.Gly2769Val)
|
rs762272453
|
|
|
NM_001164508.2(NEB):c.8313C>T (p.Asp2771=)
|
|
|
|
NM_001164508.2(NEB):c.8315T>G (p.Met2772Arg)
|
rs1574896797
|
|
|
NM_001164508.2(NEB):c.8317C>A (p.Arg2773=)
|
rs776175154
|
|
|
NM_001164508.2(NEB):c.8326G>C (p.Ala2776Pro)
|
rs2098890629
|
|
|
NM_001164508.2(NEB):c.8331T>A (p.Ile2777=)
|
rs2154112958
|
|
|
NM_001164508.2(NEB):c.8333C>T (p.Pro2778Leu)
|
rs2154112954
|
|
|
NM_001164508.2(NEB):c.8341G>T (p.Ala2781Ser)
|
rs1160244999
|
|
|
NM_001164508.2(NEB):c.8344_8345delinsTT (p.Ala2782Phe)
|
|
|
|
NM_001164508.2(NEB):c.834A>G (p.Lys278=)
|
rs2150051403
|
|
|
NM_001164508.2(NEB):c.8350G>A (p.Ala2784Thr)
|
|
|
|
NM_001164508.2(NEB):c.8352C>T (p.Ala2784=)
|
|
|
|
NM_001164508.2(NEB):c.8353T>C (p.Ser2785Pro)
|
rs398124173
|
|
|
NM_001164508.2(NEB):c.8358A>G (p.Arg2786=)
|
|
|
|
NM_001164508.2(NEB):c.8359G>A (p.Asp2787Asn)
|
|
|
|
NM_001164508.2(NEB):c.8364T>A (p.Ile2788=)
|
|
|
|
NM_001164508.2(NEB):c.8373+15A>G
|
|
|
|
NM_001164508.2(NEB):c.8373+16A>C
|
|
|
|
NM_001164508.2(NEB):c.8373+16A>G
|
|
|
|
NM_001164508.2(NEB):c.8373+1G>A
|
rs2154112865
|
|
|
NM_001164508.2(NEB):c.8373+7A>G
|
rs2154112849
|
|
|
NM_001164508.2(NEB):c.8373+8T>C
|
|
|
|
NM_001164508.2(NEB):c.8374-10C>A
|
|
|
|
NM_001164508.2(NEB):c.8374-1G>A
|
rs1180407562
|
|
|
NM_001164508.2(NEB):c.8374-20C>T
|
|
|
|
NM_001164508.2(NEB):c.8374-22_8374-19del
|
|
|
|
NM_001164508.2(NEB):c.8374-3T>C
|
rs2154105691
|
|
|
NM_001164508.2(NEB):c.8379G>A (p.Lys2793=)
|
|
|
|
NM_001164508.2(NEB):c.8383A>G (p.Lys2795Glu)
|
|
|
|
NM_001164508.2(NEB):c.8386G>A (p.Glu2796Lys)
|
|
|
|
NM_001164508.2(NEB):c.8386del (p.Glu2796fs)
|
rs2154105644
|
|
|
NM_001164508.2(NEB):c.8387A>G (p.Glu2796Gly)
|
|
|
|
NM_001164508.2(NEB):c.8395C>G (p.Arg2799Gly)
|
rs779321118
|
|
|
NM_001164508.2(NEB):c.8395C>T (p.Arg2799Cys)
|
|
|
|
NM_001164508.2(NEB):c.8398A>G (p.Lys2800Glu)
|
|
|
|
NM_001164508.2(NEB):c.840C>T (p.Asp280=)
|
rs953526249
|
|
|
NM_001164508.2(NEB):c.8415C>T (p.His2805=)
|
|
|
|
NM_001164508.2(NEB):c.8418T>C (p.Ile2806=)
|
rs2154105525
|
|
|
NM_001164508.2(NEB):c.8422G>T (p.Ala2808Ser)
|
|
|
|
NM_001164508.2(NEB):c.8425C>A (p.Arg2809=)
|
|
|
|
NM_001164508.2(NEB):c.8425del (p.Arg2809fs)
|
rs1574820458
|
|
|
NM_001164508.2(NEB):c.8433A>T (p.Ile2811=)
|
|
|
|
NM_001164508.2(NEB):c.8434C>A (p.Arg2812Ser)
|
rs747131655
|
|
|
NM_001164508.2(NEB):c.8435G>A (p.Arg2812His)
|
|
|
|
NM_001164508.2(NEB):c.8436T>A (p.Arg2812=)
|
|
|
|
NM_001164508.2(NEB):c.8458_8459del (p.Ser2820fs)
|
rs776982138
|
|
|
NM_001164508.2(NEB):c.8460C>T (p.Ser2820=)
|
|
|
|
NM_001164508.2(NEB):c.8461A>G (p.Met2821Val)
|
rs2098834032
|
|
|
NM_001164508.2(NEB):c.8469G>A (p.Val2823=)
|
rs1574818802
|
|
|
NM_001164508.2(NEB):c.8485G>A (p.Asp2829Asn)
|
|
|
|
NM_001164508.2(NEB):c.8493G>T (p.Glu2831Asp)
|
rs2098833761
|
|
|
NM_001164508.2(NEB):c.8498A>G (p.Lys2833Arg)
|
|
|
|
NM_001164508.2(NEB):c.8502G>A (p.Lys2834=)
|
|
|
|
NM_001164508.2(NEB):c.8505C>T (p.Asp2835=)
|
rs2154105283
|
|
|
NM_001164508.2(NEB):c.8508T>C (p.Phe2836=)
|
|
|
|
NM_001164508.2(NEB):c.8515T>A (p.Trp2839Arg)
|
|
|
|
NM_001164508.2(NEB):c.8530A>T (p.Ser2844Cys)
|
|
|
|
NM_001164508.2(NEB):c.8541G>A (p.Val2847=)
|
rs2098833367
|
|
|
NM_001164508.2(NEB):c.8545_8546dup (p.Met2849fs)
|
|
|
|
NM_001164508.2(NEB):c.8547G>C (p.Met2849Ile)
|
rs2098833299
|
|
|
NM_001164508.2(NEB):c.8550G>T (p.Leu2850=)
|
|
|
|
NM_001164508.2(NEB):c.8554G>T (p.Val2852Leu)
|
rs1256097684
|
|
|
NM_001164508.2(NEB):c.8559G>A (p.Val2853=)
|
|
|
|
NM_001164508.2(NEB):c.855_856insGCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATAAAATC (p.Lys286delinsAlaArgLeuProLeuProLeuProSerProSerProValSerLeuSerLeuSerArgLeuXaaXaaXaaXaaLysLysLysLysLysLysArgLysTer)
|
|
|
|
NM_001164508.2(NEB):c.8560C>T (p.Leu2854=)
|
rs772120513
|
|
|
NM_001164508.2(NEB):c.8577G>A (p.Gln2859=)
|
rs2154105100
|
|
|
NM_001164508.2(NEB):c.8584G>T (p.Val2862Phe)
|
rs949616238
|
|
|
NM_001164508.2(NEB):c.8585_8588del (p.Val2862fs)
|
|
|
|
NM_001164508.2(NEB):c.8586C>T (p.Val2862=)
|
|
|
|
NM_001164508.2(NEB):c.858del (p.Gly287fs)
|
|
|
|
NM_001164508.2(NEB):c.8590G>T (p.Asp2864Tyr)
|
|
|
|
NM_001164508.2(NEB):c.8595G>A (p.Val2865=)
|
rs1296412908
|
|
|
NM_001164508.2(NEB):c.8597A>G (p.Asp2866Gly)
|
rs370002964
|
|
|
NM_001164508.2(NEB):c.8598C>G (p.Asp2866Glu)
|
rs1553966356
|
|
|
NM_001164508.2(NEB):c.8599T>C (p.Tyr2867His)
|
|
|
|
NM_001164508.2(NEB):c.85A>G (p.Thr29Ala)
|
|
|
|
NM_001164508.2(NEB):c.8609A>G (p.Tyr2870Cys)
|
|
|
|
NM_001164508.2(NEB):c.8610C>T (p.Tyr2870=)
|
rs1574814350
|
|
|
NM_001164508.2(NEB):c.8615A>G (p.His2872Arg)
|
rs2098832647
|
|
|
NM_001164508.2(NEB):c.8617C>A (p.Gln2873Lys)
|
|
|
|
NM_001164508.2(NEB):c.8619G>A (p.Gln2873=)
|
rs750274374
|
|
|
NM_001164508.2(NEB):c.861C>A (p.Gly287=)
|
|
|
|
NM_001164508.2(NEB):c.8620T>A (p.Trp2874Arg)
|
rs2154104967
|
|
|
NM_001164508.2(NEB):c.8628C>T (p.Cys2876=)
|
rs375721498
|
|
|
NM_001164508.2(NEB):c.8631G>A (p.Leu2877=)
|
rs1190853165
|
|
|
NM_001164508.2(NEB):c.8648T>C (p.Val2883Ala)
|
rs2098832346
|
|
|
NM_001164508.2(NEB):c.864A>G (p.Lys288=)
|
rs2150050846
|
|
|
NM_001164508.2(NEB):c.8652C>A (p.Ile2884=)
|
rs1488080807
|
|
|
NM_001164508.2(NEB):c.8652C>T (p.Ile2884=)
|
|
|
|
NM_001164508.2(NEB):c.8659C>T (p.Arg2887Trp)
|
rs748618562
|
|
|
NM_001164508.2(NEB):c.8666C>G (p.Ala2889Gly)
|
|
|
|
NM_001164508.2(NEB):c.8668T>G (p.Tyr2890Asp)
|
|
|
|
NM_001164508.2(NEB):c.8680A>C (p.Ser2894Arg)
|
|
|
|
NM_001164508.2(NEB):c.8681G>A (p.Ser2894Asn)
|
rs1420993227
|
|
|
NM_001164508.2(NEB):c.8682C>T (p.Ser2894=)
|
rs373799650
|
|
|
NM_001164508.2(NEB):c.8685+13A>G
|
rs2154104712
|
|
|
NM_001164508.2(NEB):c.8685+14G>A
|
|
|
|
NM_001164508.2(NEB):c.8685+17A>G
|
|
|
|
NM_001164508.2(NEB):c.8685+18T>C
|
|
|
|
NM_001164508.2(NEB):c.8685+19A>G
|
|
|
|
NM_001164508.2(NEB):c.8685+3G>A
|
|
|
|
NM_001164508.2(NEB):c.8685+8C>G
|
|
|
|
NM_001164508.2(NEB):c.8686-10G>C
|
rs769262070
|
|
|
NM_001164508.2(NEB):c.8686-14A>G
|
|
|
|
NM_001164508.2(NEB):c.8686-16C>T
|
|
|
|
NM_001164508.2(NEB):c.8686-17del
|
|
|
|
NM_001164508.2(NEB):c.8686-2A>G
|
|
|
|
NM_001164508.2(NEB):c.8686-3C>T
|
rs2098827787
|
|
|
NM_001164508.2(NEB):c.8686-8G>A
|
|
|
|
NM_001164508.2(NEB):c.8693A>G (p.Tyr2898Cys)
|
|
|
|
NM_001164508.2(NEB):c.8700T>C (p.Ser2900=)
|
rs774631406
|
|
|
NM_001164508.2(NEB):c.8709G>A (p.Gln2903=)
|
|
|
|
NM_001164508.2(NEB):c.870T>C (p.Ser290=)
|
|
|
|
NM_001164508.2(NEB):c.8717G>C (p.Arg2906Thr)
|
rs2154103510
|
|
|
NM_001164508.2(NEB):c.8718A>C (p.Arg2906Ser)
|
rs753718572
|
|
|
NM_001164508.2(NEB):c.8722A>C (p.Ile2908Leu)
|
|
|
|
NM_001164508.2(NEB):c.8722A>T (p.Ile2908Phe)
|
|
|
|
NM_001164508.2(NEB):c.8726G>C (p.Gly2909Ala)
|
|
|
|
NM_001164508.2(NEB):c.8727C>T (p.Gly2909=)
|
|
|
|
NM_001164508.2(NEB):c.8729G>A (p.Trp2910Ter)
|
|
|
|
NM_001164508.2(NEB):c.8732T>G (p.Val2911Gly)
|
|
|
|
NM_001164508.2(NEB):c.8733_8734inv (p.Ser2912Pro)
|
|
|
|
NM_001164508.2(NEB):c.8739T>C (p.Ile2913=)
|
|
|
|
NM_001164508.2(NEB):c.8742C>T (p.Gly2914=)
|
rs1455295349
|
|
|
NM_001164508.2(NEB):c.8749G>T (p.Asp2917Tyr)
|
|
|
|
NM_001164508.2(NEB):c.8760A>G (p.Lys2920=)
|
rs2154103360
|
|
|
NM_001164508.2(NEB):c.8767A>C (p.Arg2923=)
|
rs2154103341
|
|
|
NM_001164508.2(NEB):c.8772A>C (p.Ala2924=)
|
rs2154103315
|
|
|
NM_001164508.2(NEB):c.8772A>G (p.Ala2924=)
|
rs2154103315
|
|
|
NM_001164508.2(NEB):c.8789A>G (p.Asp2930Gly)
|
rs979095688
|
|
|
NM_001164508.2(NEB):c.8790T>G (p.Asp2930Glu)
|
|
|
|
NM_001164508.2(NEB):c.8793A>C (p.Lys2931Asn)
|
rs764708311
|
|
|
NM_001164508.2(NEB):c.8794A>G (p.Ile2932Val)
|
rs2098826922
|
|
|
NM_001164508.2(NEB):c.8803C>T (p.Gln2935Ter)
|
rs1351747266
|
|
|
NM_001164508.2(NEB):c.8808T>G (p.Pro2936=)
|
rs2154103180
|
|
|
NM_001164508.2(NEB):c.8829C>T (p.Thr2943=)
|
rs2154103123
|
|
|
NM_001164508.2(NEB):c.8831G>A (p.Ser2944Asn)
|
|
|
|
NM_001164508.2(NEB):c.8841C>T (p.Asp2947=)
|
|
|
|
NM_001164508.2(NEB):c.8844T>C (p.Ser2948=)
|
|
|
|
NM_001164508.2(NEB):c.8845C>T (p.Leu2949=)
|
|
|
|
NM_001164508.2(NEB):c.8851C>G (p.Gln2951Glu)
|
rs2154103068
|
|
|
NM_001164508.2(NEB):c.8856G>A (p.Val2952=)
|
rs1180108686
|
|
|
NM_001164508.2(NEB):c.8858T>C (p.Leu2953Ser)
|
|
|
|
NM_001164508.2(NEB):c.8860del (p.Ala2954fs)
|
rs1553964158
|
|
|
NM_001164508.2(NEB):c.8876T>A (p.Ile2959Asn)
|
rs1228319024
|
|
|
NM_001164508.2(NEB):c.8879C>T (p.Thr2960Ile)
|
|
|
|
NM_001164508.2(NEB):c.8881A>G (p.Met2961Val)
|
|
|
|
NM_001164508.2(NEB):c.8889+14A>C
|
|
|
|
NM_001164508.2(NEB):c.8889+18A>G
|
|
|
|
NM_001164508.2(NEB):c.8889+1G>A
|
rs1553963960
|
|
|
NM_001164508.2(NEB):c.8889+20A>G
|
|
|
|
NM_001164508.2(NEB):c.8889+9T>C
|
|
|
|
NM_001164508.2(NEB):c.8890-14A>G
|
|
|
|
NM_001164508.2(NEB):c.8890-16G>A
|
|
|
|
NM_001164508.2(NEB):c.8890-18G>A
|
|
|
|
NM_001164508.2(NEB):c.8890-1G>A
|
|
|
|
NM_001164508.2(NEB):c.8890-6del
|
rs771652505
|
|
|
NM_001164508.2(NEB):c.8890-6dup
|
|
|
|
NM_001164508.2(NEB):c.8890-7T>C
|
|
|
|
NM_001164508.2(NEB):c.8891G>A (p.Arg2964His)
|
|
|
|
NM_001164508.2(NEB):c.8895A>G (p.Leu2965=)
|
|
|
|
NM_001164508.2(NEB):c.8897A>G (p.Tyr2966Cys)
|
rs1560822452
|
|
|
NM_001164508.2(NEB):c.8901A>G (p.Thr2967=)
|
|
|
|
NM_001164508.2(NEB):c.8907C>T (p.Ala2969=)
|
|
|
|
NM_001164508.2(NEB):c.8910G>A (p.Trp2970Ter)
|
|
|
|
NM_001164508.2(NEB):c.8918A>C (p.Asp2973Ala)
|
|
|
|
NM_001164508.2(NEB):c.8922G>A (p.Lys2974=)
|
|
|
|
NM_001164508.2(NEB):c.8946C>T (p.Asp2982=)
|
rs2154100963
|
|
|
NM_001164508.2(NEB):c.8952A>G (p.Pro2984=)
|
rs2154100946
|
|
|
NM_001164508.2(NEB):c.8970A>G (p.Arg2990=)
|
rs2154100920
|
|
|
NM_001164508.2(NEB):c.8972T>G (p.Met2991Arg)
|
rs539367087
|
|
|
NM_001164508.2(NEB):c.8982C>G (p.Ile2994Met)
|
rs1251791997
|
|
|
NM_001164508.2(NEB):c.8994+11A>G
|
|
|
|
NM_001164508.2(NEB):c.8994+16T>C
|
|
|
|
NM_001164508.2(NEB):c.8994+16_8994+17del
|
rs745485126
|
|
|
NM_001164508.2(NEB):c.8994+17T>G
|
|
|
|
NM_001164508.2(NEB):c.8994+18G>A
|
|
|
|
NM_001164508.2(NEB):c.8994+19A>G
|
|
|
|
NM_001164508.2(NEB):c.8994+1G>A
|
rs2098817648
|
|
|
NM_001164508.2(NEB):c.8995-13C>T
|
|
|
|
NM_001164508.2(NEB):c.8995-14del
|
rs770495295
|
|
|
NM_001164508.2(NEB):c.8995-14dup
|
|
|
|
NM_001164508.2(NEB):c.8995-18T>C
|
|
|
|
NM_001164508.2(NEB):c.8995-1G>C
|
|
|
|
NM_001164508.2(NEB):c.8995-6A>C
|
rs2154090926
|
|
|
NM_001164508.2(NEB):c.8995-8A>C
|
|
|
|
NM_001164508.2(NEB):c.8995-9C>T
|
|
|
|
NM_001164508.2(NEB):c.8997T>A (p.Ser2999Arg)
|
rs2154090899
|
|
|
NM_001164508.2(NEB):c.9002A>G (p.Tyr3001Cys)
|
rs1574635522
|
|
|
NM_001164508.2(NEB):c.9009T>C (p.Leu3003=)
|
|
|
|
NM_001164508.2(NEB):c.900C>T (p.Ala300=)
|
rs778204122
|
|
|
NM_001164508.2(NEB):c.9015T>A (p.Asn3005Lys)
|
|
|
|
NM_001164508.2(NEB):c.9015T>C (p.Asn3005=)
|
rs576142462
|
|
|
NM_001164508.2(NEB):c.9019G>A (p.Glu3007Lys)
|
|
|
|
NM_001164508.2(NEB):c.9025A>C (p.Lys3009Gln)
|
|
|
|
NM_001164508.2(NEB):c.902_903delinsAT (p.Arg301Asn)
|
rs2099741678
|
|
|
NM_001164508.2(NEB):c.9039T>C (p.Tyr3013=)
|
|
|
|
NM_001164508.2(NEB):c.903A>T (p.Arg301Ser)
|
|
|
|
NM_001164508.2(NEB):c.9042C>T (p.Asp3014=)
|
rs1262229809
|
|
|
NM_001164508.2(NEB):c.9044T>C (p.Leu3015Ser)
|
rs573822094
|
|
|
NM_001164508.2(NEB):c.9046C>G (p.Arg3016Gly)
|
rs1057517977
|
|
|
NM_001164508.2(NEB):c.9048A>T (p.Arg3016=)
|
|
|
|
NM_001164508.2(NEB):c.904A>G (p.Met302Val)
|
rs755508128
|
|
|
NM_001164508.2(NEB):c.9052G>T (p.Asp3018Tyr)
|
|
|
|
NM_001164508.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del)
|
rs1165631470
|
|
|
NM_001164508.2(NEB):c.9054C>T (p.Asp3018=)
|
rs748395516
|
|
|
NM_001164508.2(NEB):c.9056C>T (p.Ala3019Val)
|
rs1394119778
|
|
|
NM_001164508.2(NEB):c.9057C>G (p.Ala3019=)
|
rs1411759598
|
|
|
NM_001164508.2(NEB):c.906G>A (p.Met302Ile)
|
|
|
|
NM_001164508.2(NEB):c.9077A>G (p.Lys3026Arg)
|
|
|
|
NM_001164508.2(NEB):c.9081C>T (p.Ala3027=)
|
rs2154090635
|
|
|
NM_001164508.2(NEB):c.9102+12A>G
|
|
|
|
NM_001164508.2(NEB):c.9102+1G>A
|
rs143644938
|
|
|
NM_001164508.2(NEB):c.9102C>A (p.Asp3034Glu)
|
|
|
|
NM_001164508.2(NEB):c.9103-18T>C
|
|
|
|
NM_001164508.2(NEB):c.9103-4_9103-3del
|
rs749056839
|
|
|
NM_001164508.2(NEB):c.9103-6T>C
|
|
|
|
NM_001164508.2(NEB):c.9108A>T (p.Lys3036Asn)
|
|
|
|
NM_001164508.2(NEB):c.9114A>G (p.Lys3038=)
|
rs1260779517
|
|
|
NM_001164508.2(NEB):c.9117T>C (p.Asp3039=)
|
rs2154081439
|
|
|
NM_001164508.2(NEB):c.9118G>A (p.Gly3040Ser)
|
rs758739517
|
|
|
NM_001164508.2(NEB):c.9120T>C (p.Gly3040=)
|
rs2098712581
|
|
|
NM_001164508.2(NEB):c.9123_9124delinsTC (p.Cys3042Arg)
|
rs1574530781
|
|
|
NM_001164508.2(NEB):c.9124_9125inv (p.Cys3042His)
|
|
|
|
NM_001164508.2(NEB):c.9138C>T (p.Gly3046=)
|
|
|
|
NM_001164508.2(NEB):c.9156G>A (p.Arg3052=)
|
rs2154081242
|
|
|
NM_001164508.2(NEB):c.915T>C (p.Asp305=)
|
|
|
|
NM_001164508.2(NEB):c.9174C>G (p.Pro3058=)
|
rs2154081222
|
|
|
NM_001164508.2(NEB):c.9176A>G (p.Lys3059Arg)
|
|
|
|
NM_001164508.2(NEB):c.9177G>A (p.Lys3059=)
|
rs2154081208
|
|
|
NM_001164508.2(NEB):c.9189C>T (p.Ser3063=)
|
rs2154081173
|
|
|
NM_001164508.2(NEB):c.9193C>T (p.His3065Tyr)
|
|
|
|
NM_001164508.2(NEB):c.9211_9218del (p.Ser3071fs)
|
|
|
|
NM_001164508.2(NEB):c.9217_9218del (p.Arg3073fs)
|
rs1574526903
|
|
|
NM_001164508.2(NEB):c.9219G>A (p.Arg3073=)
|
|
|
|
NM_001164508.2(NEB):c.9225C>G (p.Tyr3075Ter)
|
|
|
|
NM_001164508.2(NEB):c.9234C>T (p.Asp3078=)
|
rs1401025895
|
|
|
NM_001164508.2(NEB):c.9249G>A (p.Lys3083=)
|
rs2154081052
|
|
|
NM_001164508.2(NEB):c.9258C>T (p.Phe3086=)
|
rs2154081043
|
|
|
NM_001164508.2(NEB):c.927+14G>A
|
rs1577279380
|
|
|
NM_001164508.2(NEB):c.927+16A>T
|
|
|
|
NM_001164508.2(NEB):c.927+7T>C
|
rs746940000
|
|
|
NM_001164508.2(NEB):c.927+9G>C
|
rs1327165167
|
|
|
NM_001164508.2(NEB):c.927+9G>T
|
|
|
|
NM_001164508.2(NEB):c.9279G>A (p.Leu3093=)
|
rs2154080991
|
|
|
NM_001164508.2(NEB):c.928-10T>C
|
rs886038454
|
|
|
NM_001164508.2(NEB):c.928-12G>A
|
|
|
|
NM_001164508.2(NEB):c.9283dup (p.Val3095fs)
|
|
|
|
NM_001164508.2(NEB):c.9284del (p.Val3095fs)
|
|
|
|
NM_001164508.2(NEB):c.9296A>G (p.Lys3099Arg)
|
|
|
|
NM_001164508.2(NEB):c.9309C>T (p.Thr3103=)
|
|
|
|
NM_001164508.2(NEB):c.9315C>T (p.Val3105=)
|
rs371174518
|
|
|
NM_001164508.2(NEB):c.9324G>C (p.Val3108=)
|
rs1376979181
|
|
|
NM_001164508.2(NEB):c.9336C>G (p.Asn3112Lys)
|
|
|
|
NM_001164508.2(NEB):c.9339C>T (p.Tyr3113=)
|
rs2154080863
|
|
|
NM_001164508.2(NEB):c.9346G>A (p.Glu3116Lys)
|
rs193042896
|
|
|
NM_001164508.2(NEB):c.9348G>A (p.Glu3116=)
|
|
|
|
NM_001164508.2(NEB):c.934del (p.Tyr312fs)
|
rs2150020225
|
|
|
NM_001164508.2(NEB):c.9351G>T (p.Trp3117Cys)
|
|
|
|
NM_001164508.2(NEB):c.9363T>G (p.Pro3121=)
|
rs6709886
|
|
|
NM_001164508.2(NEB):c.9365A>G (p.Asp3122Gly)
|
rs2154080790
|
|
|
NM_001164508.2(NEB):c.9371G>A (p.Ser3124Asn)
|
|
|
|
NM_001164508.2(NEB):c.9374A>G (p.Asp3125Gly)
|
|
|
|
NM_001164508.2(NEB):c.9378C>T (p.Val3126=)
|
|
|
|
NM_001164508.2(NEB):c.9383A>G (p.His3128Arg)
|
rs1460535254
|
|
|
NM_001164508.2(NEB):c.9389G>A (p.Arg3130Gln)
|
|
|
|
NM_001164508.2(NEB):c.938A>G (p.Gln313Arg)
|
rs1559506055
|
|
|
NM_001164508.2(NEB):c.9396del (p.Tyr3133fs)
|
|
|
|
NM_001164508.2(NEB):c.9398A>G (p.Tyr3133Cys)
|
|
|
|
NM_001164508.2(NEB):c.9402C>T (p.Asp3134=)
|
rs1447677348
|
|
|
NM_001164508.2(NEB):c.9407A>G (p.Gln3136Arg)
|
|
|
|
NM_001164508.2(NEB):c.940G>A (p.Glu314Lys)
|
|
|
|
NM_001164508.2(NEB):c.9414+16A>G
|
|
|
|
NM_001164508.2(NEB):c.9414+18A>G
|
|
|
|
NM_001164508.2(NEB):c.9414+19A>G
|
|
|
|
NM_001164508.2(NEB):c.9414+1G>A
|
rs1255445731
|
|
|
NM_001164508.2(NEB):c.9414+5G>A
|
rs2154080637
|
|
|
NM_001164508.2(NEB):c.9414+8C>T
|
rs1013796433
|
|
|
NM_001164508.2(NEB):c.9414+9A>G
|
rs2154080604
|
|
|
NM_001164508.2(NEB):c.9415-10C>G
|
rs1483729053
|
|
|
NM_001164508.2(NEB):c.9415-10C>T
|
|
|
|
NM_001164508.2(NEB):c.9415-12del
|
|
|
|
NM_001164508.2(NEB):c.9415-1G>A
|
|
|
|
NM_001164508.2(NEB):c.9415-20G>T
|
|
|
|
NM_001164508.2(NEB):c.9415-6G>C
|
rs2154073663
|
|
|
NM_001164508.2(NEB):c.9415-7T>C
|
rs2154073671
|
|
|
NM_001164508.2(NEB):c.9415-8C>T
|
rs762399109
|
|
|
NM_001164508.2(NEB):c.9415-9T>A
|
|
|
|
NM_001164508.2(NEB):c.9426G>A (p.Lys3142=)
|
|
|
|
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter)
|
rs1553939806
|
|
|
NM_001164508.2(NEB):c.9429A>G (p.Ser3143=)
|
|
|
|
NM_001164508.2(NEB):c.9435C>G (p.Leu3145=)
|
rs1401272162
|
|
|
NM_001164508.2(NEB):c.9439T>G (p.Trp3147Gly)
|
rs2098662413
|
|
|
NM_001164508.2(NEB):c.943G>T (p.Asp315Tyr)
|
|
|
|
NM_001164508.2(NEB):c.9444G>A (p.Leu3148=)
|
|
|
|
NM_001164508.2(NEB):c.9448G>A (p.Gly3150Ser)
|
|
|
|
NM_001164508.2(NEB):c.9450C>A (p.Gly3150=)
|
|
|
|
NM_001164508.2(NEB):c.9462C>A (p.Val3154=)
|
rs756951979
|
|
|
NM_001164508.2(NEB):c.9463C>A (p.Pro3155Thr)
|
|
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
|
NM_001164508.2(NEB):c.9466A>T (p.Ile3156Phe)
|
rs749280613
|
|
|
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn)
|
rs145770770
|
|
|
NM_001164508.2(NEB):c.9467T>C (p.Ile3156Thr)
|
rs145770770
|
|
|
NM_001164508.2(NEB):c.946T>C (p.Phe316Leu)
|
rs2150019628
|
|
|
NM_001164508.2(NEB):c.9473C>T (p.Ser3158Phe)
|
|
|
|
NM_001164508.2(NEB):c.9476T>C (p.Met3159Thr)
|
|
|
|
NM_001164508.2(NEB):c.9481G>A (p.Val3161Met)
|
rs1560693635
|
|
|
NM_001164508.2(NEB):c.9488A>G (p.Lys3163Arg)
|
|
|
|
NM_001164508.2(NEB):c.9489G>A (p.Lys3163=)
|
rs867224544
|
|
|
NM_001164508.2(NEB):c.9490T>C (p.Cys3164Arg)
|
rs1292713138
|
|
|
NM_001164508.2(NEB):c.9494A>G (p.Lys3165Arg)
|
rs771512413
|
|
|
NM_001164508.2(NEB):c.9503C>T (p.Thr3168Ile)
|
rs2098661076
|
|
|
NM_001164508.2(NEB):c.9508dup (p.Ile3170fs)
|
|
|
|
NM_001164508.2(NEB):c.9510A>T (p.Ile3170=)
|
|
|
|
NM_001164508.2(NEB):c.9516T>C (p.Ser3172=)
|
rs1350595610
|
|
|
NM_001164508.2(NEB):c.9528C>A (p.Tyr3176Ter)
|
|
|
|
NM_001164508.2(NEB):c.9528C>T (p.Tyr3176=)
|
rs2098660756
|
|
|
NM_001164508.2(NEB):c.9530G>A (p.Arg3177His)
|
|
|
|
NM_001164508.2(NEB):c.9531C>T (p.Arg3177=)
|
rs2154073226
|
|
|
NM_001164508.2(NEB):c.9532C>T (p.Gln3178Ter)
|
rs2154073221
|
|
|
NM_001164508.2(NEB):c.9534G>A (p.Gln3178=)
|
rs565924213
|
|
|
NM_001164508.2(NEB):c.9542A>C (p.Asp3181Ala)
|
rs767042929
|
|
|
NM_001164508.2(NEB):c.9542A>G (p.Asp3181Gly)
|
|
|
|
NM_001164508.2(NEB):c.954C>T (p.Asn318=)
|
rs1577253471
|
|
|
NM_001164508.2(NEB):c.9550A>G (p.Lys3184Glu)
|
|
|
|
NM_001164508.2(NEB):c.9551A>T (p.Lys3184Ile)
|
rs2154073147
|
|
|
NM_001164508.2(NEB):c.9552A>G (p.Lys3184=)
|
rs2154073140
|
|
|
NM_001164508.2(NEB):c.9556A>T (p.Thr3186Ser)
|
rs2154073125
|
|
|
NM_001164508.2(NEB):c.955A>G (p.Met319Val)
|
rs1269690979
|
|
|
NM_001164508.2(NEB):c.955A>T (p.Met319Leu)
|
|
|
|
NM_001164508.2(NEB):c.9561T>C (p.Ser3187=)
|
|
|
|
NM_001164508.2(NEB):c.9562G>A (p.Val3188Met)
|
|
|
|
NM_001164508.2(NEB):c.9564G>A (p.Val3188=)
|
|
|
|
NM_001164508.2(NEB):c.9576A>G (p.Leu3192=)
|
rs779042130
|
|
|
NM_001164508.2(NEB):c.9579G>A (p.Glu3193=)
|
|
|
|
NM_001164508.2(NEB):c.9580C>T (p.Gln3194Ter)
|
rs2098659971
|
|
|
NM_001164508.2(NEB):c.9586C>G (p.Leu3196Val)
|
|
|
|
NM_001164508.2(NEB):c.9586C>T (p.Leu3196=)
|
|
|
|
NM_001164508.2(NEB):c.9587T>G (p.Leu3196Arg)
|
rs754001835
|
|
|
NM_001164508.2(NEB):c.9590C>T (p.Ala3197Val)
|
rs778131603
|
|
|
NM_001164508.2(NEB):c.9591C>G (p.Ala3197=)
|
|
|
|
NM_001164508.2(NEB):c.9600T>C (p.Asn3200=)
|
rs2098659656
|
|
|
NM_001164508.2(NEB):c.9600del (p.Asn3200fs)
|
rs2154072959
|
|
|
NM_001164508.2(NEB):c.9606C>G (p.Leu3202=)
|
rs1574423035
|
|
|
NM_001164508.2(NEB):c.9609C>T (p.Asn3203=)
|
rs1574422955
|
|
|
NM_001164508.2(NEB):c.9618+10A>C
|
|
|
|
NM_001164508.2(NEB):c.9618+12C>T
|
|
|
|
NM_001164508.2(NEB):c.9618+7C>A
|
rs760075915
|
|
|
NM_001164508.2(NEB):c.9618+7C>G
|
rs760075915
|
|
|
NM_001164508.2(NEB):c.9618+7C>T
|
|
|
|
NM_001164508.2(NEB):c.9618+9del
|
rs2154072862
|
|
|
NM_001164508.2(NEB):c.9619-10T>C
|
|
|
|
NM_001164508.2(NEB):c.9619-10T>G
|
|
|
|
NM_001164508.2(NEB):c.9619-13T>A
|
|
|
|
NM_001164508.2(NEB):c.9619-14A>T
|
|
|
|
NM_001164508.2(NEB):c.9619-16T>C
|
|
|
|
NM_001164508.2(NEB):c.9619-17C>T
|
|
|
|
NM_001164508.2(NEB):c.9619-1G>A
|
rs1390379576
|
|
|
NM_001164508.2(NEB):c.9619-4A>G
|
rs2154071809
|
|
|
NM_001164508.2(NEB):c.9619-8T>C
|
|
|
|
NM_001164508.2(NEB):c.9619C>A (p.Arg3207Ser)
|
rs200351671
|
|
|
NM_001164508.2(NEB):c.9619C>T (p.Arg3207Cys)
|
rs200351671
|
|
|
NM_001164508.2(NEB):c.9620G>T (p.Arg3207Leu)
|
rs111841612
|
|
|
NM_001164508.2(NEB):c.9629C>T (p.Thr3210Ile)
|
|
|
|
NM_001164508.2(NEB):c.9630A>G (p.Thr3210=)
|
|
|
|
NM_001164508.2(NEB):c.9631G>A (p.Glu3211Lys)
|
rs757944456
|
|
|
NM_001164508.2(NEB):c.9636C>T (p.Ala3212=)
|
|
|
|
NM_001164508.2(NEB):c.9642C>G (p.Asp3214Glu)
|
|
|
|
NM_001164508.2(NEB):c.9642C>T (p.Asp3214=)
|
rs1157858933
|
|
|
NM_001164508.2(NEB):c.9643A>G (p.Lys3215Glu)
|
|
|
|
NM_001164508.2(NEB):c.9654T>C (p.Thr3218=)
|
rs1005013494
|
|
|
NM_001164508.2(NEB):c.9659T>G (p.Ile3220Ser)
|
rs2098651541
|
|
|
NM_001164508.2(NEB):c.9663C>A (p.His3221Gln)
|
|
|
|
NM_001164508.2(NEB):c.9663C>T (p.His3221=)
|
|
|
|
NM_001164508.2(NEB):c.9681A>G (p.Pro3227=)
|
|
|
|
NM_001164508.2(NEB):c.9684G>A (p.Glu3228=)
|
rs371740288
|
|
|
NM_001164508.2(NEB):c.968T>A (p.Ile323Asn)
|
|
|
|
NM_001164508.2(NEB):c.9690G>A (p.Met3230Ile)
|
|
|
|
NM_001164508.2(NEB):c.9691T>C (p.Leu3231=)
|
rs2154071655
|
|
|
NM_001164508.2(NEB):c.9693G>A (p.Leu3231=)
|
|
|
|
NM_001164508.2(NEB):c.9694G>A (p.Ala3232Thr)
|
rs1329330602
|
|
|
NM_001164508.2(NEB):c.9696A>C (p.Ala3232=)
|
rs1289650145
|
|
|
NM_001164508.2(NEB):c.9696A>G (p.Ala3232=)
|
|
|
|
NM_001164508.2(NEB):c.96T>C (p.Tyr32=)
|
rs1290845455
|
|
|
NM_001164508.2(NEB):c.9704A>G (p.Asn3235Ser)
|
|
|
|
NM_001164508.2(NEB):c.9711C>T (p.Ile3237=)
|
|
|
|
NM_001164508.2(NEB):c.9712A>G (p.Asn3238Asp)
|
|
|
|
NM_001164508.2(NEB):c.9713A>T (p.Asn3238Ile)
|
|
|
|
NM_001164508.2(NEB):c.9719G>C (p.Ser3240Thr)
|
|
|
|
NM_001164508.2(NEB):c.9723+15C>A
|
|
|
|
NM_001164508.2(NEB):c.9723+15C>T
|
|
|
|
NM_001164508.2(NEB):c.9723+19G>A
|
|
|
|
NM_001164508.2(NEB):c.9723+1G>A
|
rs113803601
|
|
|
NM_001164508.2(NEB):c.9723+4G>A
|
rs577635321
|
|
|
NM_001164508.2(NEB):c.9723+8C>T
|
rs369038670
|
|
|
NM_001164508.2(NEB):c.9724-10C>G
|
rs2154068562
|
|
|
NM_001164508.2(NEB):c.9724-11T>C
|
|
|
|
NM_001164508.2(NEB):c.9724-13T>G
|
|
|
|
NM_001164508.2(NEB):c.9724-14C>G
|
|
|
|
NM_001164508.2(NEB):c.9724-16G>C
|
|
|
|
NM_001164508.2(NEB):c.9724-1G>A
|
rs1553934586
|
|
|
NM_001164508.2(NEB):c.9724-4A>G
|
rs1574361885
|
|
|
NM_001164508.2(NEB):c.9725C>G (p.Thr3242Ser)
|
|
|
|
NM_001164508.2(NEB):c.9726T>C (p.Thr3242=)
|
rs1574361511
|
|
|
NM_001164508.2(NEB):c.9726_9727insAT (p.Leu3243fs)
|
rs1553934562
|
|
|
NM_001164508.2(NEB):c.9729A>T (p.Leu3243=)
|
rs767498749
|
|
|
NM_001164508.2(NEB):c.9749A>C (p.Glu3250Ala)
|
|
|
|
NM_001164508.2(NEB):c.9751G>A (p.Ala3251Thr)
|
|
|
|
NM_001164508.2(NEB):c.9752C>A (p.Ala3251Glu)
|
|
|
|
NM_001164508.2(NEB):c.9754A>C (p.Lys3252Gln)
|
|
|
|
NM_001164508.2(NEB):c.9760A>C (p.Lys3254Gln)
|
|
|
|
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter)
|
rs1301228529
|
|
|
NM_001164508.2(NEB):c.9776G>A (p.Arg3259Gln)
|
rs200930670
|
|
|
NM_001164508.2(NEB):c.9784G>A (p.Ala3262Thr)
|
|
|
|
NM_001164508.2(NEB):c.9786C>T (p.Ala3262=)
|
|
|
|
NM_001164508.2(NEB):c.9790C>G (p.Pro3264Ala)
|
rs755708498
|
|
|
NM_001164508.2(NEB):c.9793A>C (p.Ile3265Leu)
|
|
|
|
NM_001164508.2(NEB):c.9819_9820insAGG (p.Asp3273_Val3274insArg)
|
rs1553934027
|
|
|
NM_001164508.2(NEB):c.9824T>C (p.Ile3275Thr)
|
|
|
|
NM_001164508.2(NEB):c.9831+12C>T
|
|
|
|
NM_001164508.2(NEB):c.9831+1G>A
|
rs1553933986
|
|
|
NM_001164508.2(NEB):c.9831+20A>T
|
|
|
|
NM_001164508.2(NEB):c.9832-11C>A
|
|
|
|
NM_001164508.2(NEB):c.9832-11C>G
|
rs2154061851
|
|
|
NM_001164508.2(NEB):c.9832-11C>T
|
|
|
|
NM_001164508.2(NEB):c.9832-11del
|
|
|
|
NM_001164508.2(NEB):c.9832-14C>A
|
|
|
|
NM_001164508.2(NEB):c.9832-8T>C
|
|
|
|
NM_001164508.2(NEB):c.9836A>G (p.Lys3279Arg)
|
rs772766917
|
|
|
NM_001164508.2(NEB):c.9837A>G (p.Lys3279=)
|
|
|
|
NM_001164508.2(NEB):c.9840C>G (p.Tyr3280Ter)
|
rs766355387
|
|
|
NM_001164508.2(NEB):c.9840C>T (p.Tyr3280=)
|
|
|
|
NM_001164508.2(NEB):c.9843A>G (p.Lys3281=)
|
|
|
|
NM_001164508.2(NEB):c.9848G>T (p.Gly3283Val)
|
rs2098553051
|
|
|
NM_001164508.2(NEB):c.985G>A (p.Glu329Lys)
|
rs753638647
|
|
|
NM_001164508.2(NEB):c.9861G>A (p.Gln3287=)
|
|
|
|
NM_001164508.2(NEB):c.9868C>T (p.His3290Tyr)
|
|
|
|
NM_001164508.2(NEB):c.9870C>T (p.His3290=)
|
|
|
|
NM_001164508.2(NEB):c.9871C>G (p.His3291Asp)
|
rs2154061498
|
|
|
NM_001164508.2(NEB):c.9879A>G (p.Gly3293=)
|
rs2098552565
|
|
|
NM_001164508.2(NEB):c.987A>G (p.Glu329=)
|
rs1407934295
|
|
|
NM_001164508.2(NEB):c.9882C>A (p.Ala3294=)
|
rs935195501
|
|
|
NM_001164508.2(NEB):c.9882C>T (p.Ala3294=)
|
|
|
|
NM_001164508.2(NEB):c.9885G>C (p.Arg3295=)
|
|
|
|
NM_001164508.2(NEB):c.9889A>G (p.Ile3297Val)
|
rs1245785481
|
|
|
NM_001164508.2(NEB):c.9891T>A (p.Ile3297=)
|
rs780867218
|
|
|
NM_001164508.2(NEB):c.9891T>C (p.Ile3297=)
|
rs780867218
|
|
|
NM_001164508.2(NEB):c.9894A>G (p.Glu3298=)
|
rs2154061297
|
|
|
NM_001164508.2(NEB):c.9897T>C (p.Asp3299=)
|
rs1574283326
|
|
|
NM_001164508.2(NEB):c.9917C>T (p.Ser3306Phe)
|
rs2154061189
|
|
|
NM_001164508.2(NEB):c.9919A>G (p.Met3307Val)
|
|
|
|
NM_001164508.2(NEB):c.9921G>A (p.Met3307Ile)
|
rs756185799
|
|
|
NM_001164508.2(NEB):c.9922C>T (p.His3308Tyr)
|
rs1369787156
|
|
|
NM_001164508.2(NEB):c.9925G>A (p.Val3309Met)
|
|
|
|
NM_001164508.2(NEB):c.9933G>A (p.Lys3311=)
|
rs2154061110
|
|
|
NM_001164508.2(NEB):c.9939G>A (p.Gln3313=)
|
rs767908602
|
|
|
NM_001164508.2(NEB):c.993A>G (p.Pro331=)
|
|
|
|
NM_001164508.2(NEB):c.9947G>A (p.Arg3316Lys)
|
|
|
|
NM_001164508.2(NEB):c.9954T>G (p.Tyr3318Ter)
|
rs763541152
|
|
|
NM_001164508.2(NEB):c.9959A>T (p.Lys3320Met)
|
rs373285394
|
|
|
NM_001164508.2(NEB):c.9960G>C (p.Lys3320Asn)
|
|
|
|
NM_001164508.2(NEB):c.996G>A (p.Glu332=)
|
rs781706061
|
|
|
NM_001164508.2(NEB):c.9978G>A (p.Lys3326=)
|
rs2098551583
|
|
|
NM_001164508.2(NEB):c.9984G>A (p.Lys3328=)
|
rs2154060927
|
|
|
NM_001164508.2(NEB):c.9996A>G (p.Pro3332=)
|
|
|
|
NM_001164508.2(NEB):c.999T>C (p.Tyr333=)
|
|
|
|
NM_001164508.2(NEB):c.99G>A (p.Glu33=)
|
rs1050135264
|
|
|
NM_001164508.2(NEB):c.9T>C (p.Asp3=)
|
|
|
|
NM_001256545.2(MEGF10):c.1005G>A (p.Val335=)
|
|
|
|
NM_001256545.2(MEGF10):c.1007G>A (p.Ser336Asn)
|
rs1554098971
|
|
|
NM_001256545.2(MEGF10):c.1012G>C (p.Ala338Pro)
|
rs568794084
|
|
|
NM_001256545.2(MEGF10):c.1012_1013delinsAA (p.Ala338Lys)
|
rs1764513317
|
|
|
NM_001256545.2(MEGF10):c.1023T>C (p.Cys341=)
|
|
|
|
NM_001256545.2(MEGF10):c.1036G>A (p.Ala346Thr)
|
rs1764515080
|
|
|
NM_001256545.2(MEGF10):c.1070A>G (p.Glu357Gly)
|
rs1353722744
|
|
|
NM_001256545.2(MEGF10):c.1124C>T (p.Thr375Ile)
|
|
|
|
NM_001256545.2(MEGF10):c.1130+16C>G
|
|
|
|
NM_001256545.2(MEGF10):c.1130+2dup
|
|
|
|
NM_001256545.2(MEGF10):c.1136A>T (p.His379Leu)
|
rs1764826026
|
|
|
NM_001256545.2(MEGF10):c.1138C>T (p.Pro380Ser)
|
|
|
|
NM_001256545.2(MEGF10):c.116+16G>T
|
|
|
|
NM_001256545.2(MEGF10):c.116+20C>A
|
|
|
|
NM_001256545.2(MEGF10):c.1167G>A (p.Pro389=)
|
|
|
|
NM_001256545.2(MEGF10):c.1168G>T (p.Gly390Cys)
|
rs1289662592
|
|
|
NM_001256545.2(MEGF10):c.1169G>C (p.Gly390Ala)
|
|
|
|
NM_001256545.2(MEGF10):c.1169del (p.Gly390fs)
|
|
|
|
NM_001256545.2(MEGF10):c.116G>C (p.Ser39Thr)
|
rs1561575721
|
|
|
NM_001256545.2(MEGF10):c.117-12A>C
|
|
|
|
NM_001256545.2(MEGF10):c.117-3C>T
|
rs1166247376
|
|
|
NM_001256545.2(MEGF10):c.117-8C>G
|
rs1232111242
|
|
|
NM_001256545.2(MEGF10):c.117-9del
|
|
|
|
NM_001256545.2(MEGF10):c.1177G>A (p.Gly393Arg)
|
|
|
|
NM_001256545.2(MEGF10):c.1178G>A (p.Gly393Glu)
|
|
|
|
NM_001256545.2(MEGF10):c.1187G>A (p.Cys396Tyr)
|
|
|
|
NM_001256545.2(MEGF10):c.1192G>T (p.Glu398Ter)
|
rs200174116
|
|
|
NM_001256545.2(MEGF10):c.1199G>A (p.Cys400Tyr)
|
rs2126967674
|
|
|
NM_001256545.2(MEGF10):c.1204C>G (p.Pro402Ala)
|
rs2126967681
|
|
|
NM_001256545.2(MEGF10):c.1207G>A (p.Gly403Arg)
|
rs1431165906
|
|
|
NM_001256545.2(MEGF10):c.1214A>G (p.Tyr405Cys)
|
|
|
|
NM_001256545.2(MEGF10):c.1254G>T (p.Gly418=)
|
|
|
|
NM_001256545.2(MEGF10):c.1266C>T (p.Asp422=)
|
rs2126967893
|
|
|
NM_001256545.2(MEGF10):c.1281G>A (p.Lys427=)
|
|
|
|
NM_001256545.2(MEGF10):c.1282T>A (p.Cys428Ser)
|
|
|
|
NM_001256545.2(MEGF10):c.129T>C (p.Thr43=)
|
|
|
|
NM_001256545.2(MEGF10):c.1300T>G (p.Phe434Val)
|
rs1764833861
|
|
|
NM_001256545.2(MEGF10):c.1305+11A>G
|
|
|
|
NM_001256545.2(MEGF10):c.1305+14G>A
|
|
|
|
NM_001256545.2(MEGF10):c.1306-10G>T
|
|
|
|
NM_001256545.2(MEGF10):c.1306-16A>G
|
|
|
|
NM_001256545.2(MEGF10):c.1343A>G (p.Tyr448Cys)
|
rs1438771856
|
|
|
NM_001256545.2(MEGF10):c.1363C>T (p.Arg455Cys)
|
|
|
|
NM_001256545.2(MEGF10):c.1369G>A (p.Gly457Ser)
|
|
|
|
NM_001256545.2(MEGF10):c.1391G>A (p.Cys464Tyr)
|
rs1174965174
|
|
|
NM_001256545.2(MEGF10):c.1424C>T (p.Ala475Val)
|
rs1580846493
|
|
|
NM_001256545.2(MEGF10):c.1426+3A>T
|
rs191468697
|
|
|
NM_001256545.2(MEGF10):c.1427-6G>A
|
|
|
|
NM_001256545.2(MEGF10):c.1444T>C (p.Cys482Arg)
|
|
|
|
NM_001256545.2(MEGF10):c.1460C>G (p.Pro487Arg)
|
rs376778102
|
|
|
NM_001256545.2(MEGF10):c.1467C>T (p.Gly489=)
|
rs1580847709
|
|
|
NM_001256545.2(MEGF10):c.1476C>T (p.Gly492=)
|
|
|
|
NM_001256545.2(MEGF10):c.147A>G (p.Pro49=)
|
|
|
|
NM_001256545.2(MEGF10):c.1491A>G (p.Leu497=)
|
|
|
|
NM_001256545.2(MEGF10):c.149A>G (p.His50Arg)
|
|
|
|
NM_001256545.2(MEGF10):c.1509C>T (p.Asn503=)
|
|
|
|
NM_001256545.2(MEGF10):c.1518_1528del (p.Cys507fs)
|
rs2126973413
|
|
|
NM_001256545.2(MEGF10):c.1533C>A (p.Asp511Glu)
|
|
|
|
NM_001256545.2(MEGF10):c.1533C>G (p.Asp511Glu)
|
rs151266058
|
|
|
NM_001256545.2(MEGF10):c.1534G>A (p.Gly512Arg)
|
rs758236594
|
|
|
NM_001256545.2(MEGF10):c.1536G>T (p.Gly512=)
|
rs1764940862
|
|
|
NM_001256545.2(MEGF10):c.1540T>A (p.Cys514Ser)
|
rs2126973506
|
|
|
NM_001256545.2(MEGF10):c.1545G>A (p.Thr515=)
|
|
|
|
NM_001256545.2(MEGF10):c.1545G>T (p.Thr515=)
|
rs746841526
|
|
|
NM_001256545.2(MEGF10):c.1552C>T (p.Pro518Ser)
|
|
|
|
NM_001256545.2(MEGF10):c.1562G>C (p.Arg521Pro)
|
rs762636054
|
|
|
NM_001256545.2(MEGF10):c.1566G>C (p.Gly522=)
|
|
|
|
NM_001256545.2(MEGF10):c.1576G>A (p.Glu526Lys)
|
rs752944860
|
|
|
NM_001256545.2(MEGF10):c.157G>T (p.Asp53Tyr)
|
|
|
|
NM_001256545.2(MEGF10):c.1590+17G>A
|
|
|
|
NM_001256545.2(MEGF10):c.1591-6_1591-1delinsC
|
rs1765058132
|
|
|
NM_001256545.2(MEGF10):c.1598C>A (p.Thr533Lys)
|
rs150043761
|
|
|
NM_001256545.2(MEGF10):c.1598C>T (p.Thr533Met)
|
rs150043761
|
|
|
NM_001256545.2(MEGF10):c.160C>A (p.Gln54Lys)
|
rs1761581164
|
|
|
NM_001256545.2(MEGF10):c.1622G>A (p.Arg541His)
|
rs142664089
|
|
|
NM_001256545.2(MEGF10):c.1644T>C (p.Asp548=)
|
|
|
|
NM_001256545.2(MEGF10):c.1647C>T (p.Gly549=)
|
rs2126979619
|
|
|
NM_001256545.2(MEGF10):c.1650C>T (p.Cys550=)
|
|
|
|
NM_001256545.2(MEGF10):c.1657A>C (p.Thr553Pro)
|
|
|
|
NM_001256545.2(MEGF10):c.165T>A (p.Ile55=)
|
|
|
|
NM_001256545.2(MEGF10):c.1673G>A (p.Arg558His)
|
rs182243856
|
|
|
NM_001256545.2(MEGF10):c.1673G>T (p.Arg558Leu)
|
rs182243856
|
|
|
NM_001256545.2(MEGF10):c.1685G>A (p.Gly562Glu)
|
rs2126979792
|
|
|
NM_001256545.2(MEGF10):c.1687T>C (p.Trp563Arg)
|
rs1580851905
|
|
|
NM_001256545.2(MEGF10):c.168C>T (p.Tyr56=)
|
|
|
|
NM_001256545.2(MEGF10):c.1693+14A>T
|
|
|
|
NM_001256545.2(MEGF10):c.1693+16C>T
|
|
|
|
NM_001256545.2(MEGF10):c.1694-15T>C
|
|
|
|
NM_001256545.2(MEGF10):c.1694-16A>G
|
|
|
|
NM_001256545.2(MEGF10):c.1694-17C>T
|
|
|
|
NM_001256545.2(MEGF10):c.1694-19C>T
|
rs1210681765
|
|
|
NM_001256545.2(MEGF10):c.1694-2A>G
|
rs2126999837
|
|
|
NM_001256545.2(MEGF10):c.1694-3C>G
|
rs2126999832
|
|
|
NM_001256545.2(MEGF10):c.1698C>A (p.Val566=)
|
rs763734414
|
|
|
NM_001256545.2(MEGF10):c.1710C>T (p.Ser570=)
|
rs766687716
|
|
|
NM_001256545.2(MEGF10):c.1722G>C (p.Glu574Asp)
|
|
|
|
NM_001256545.2(MEGF10):c.1727G>T (p.Arg576Leu)
|
rs201832505
|
|
|
NM_001256545.2(MEGF10):c.1738A>G (p.Asn580Asp)
|
|
|
|
NM_001256545.2(MEGF10):c.173C>T (p.Thr58Met)
|
|
|
|
NM_001256545.2(MEGF10):c.174G>A (p.Thr58=)
|
rs12654455
|
|
|
NM_001256545.2(MEGF10):c.174G>T (p.Thr58=)
|
rs12654455
|
|
|
NM_001256545.2(MEGF10):c.1771G>A (p.Ala591Thr)
|
|
|
|
NM_001256545.2(MEGF10):c.1774T>A (p.Ser592Thr)
|
|
|
|
NM_001256545.2(MEGF10):c.1792G>C (p.Gly598Arg)
|
|
|
|
NM_001256545.2(MEGF10):c.1824C>A (p.Gly608=)
|
|
|
|
NM_001256545.2(MEGF10):c.183T>C (p.Thr61=)
|
rs1761582460
|
|
|
NM_001256545.2(MEGF10):c.1840+11C>T
|
rs2127000266
|
|
|
NM_001256545.2(MEGF10):c.1840+16G>A
|
|
|
|
NM_001256545.2(MEGF10):c.1841-20G>T
|
|
|
|
NM_001256545.2(MEGF10):c.1841T>A (p.Ile614Asn)
|
|
|
|
NM_001256545.2(MEGF10):c.1845C>T (p.Cys615=)
|
|
|
|
NM_001256545.2(MEGF10):c.1846T>A (p.Ser616Thr)
|
|
|
|
NM_001256545.2(MEGF10):c.1847C>T (p.Ser616Phe)
|
|
|
|
NM_001256545.2(MEGF10):c.1849C>T (p.Pro617Ser)
|
rs752036559
|
|
|
NM_001256545.2(MEGF10):c.1857T>C (p.Phe619=)
|
|
|
|
NM_001256545.2(MEGF10):c.185A>G (p.Asp62Gly)
|
|
|
|
NM_001256545.2(MEGF10):c.1867C>T (p.Arg623Cys)
|
rs756234600
|
|
|
NM_001256545.2(MEGF10):c.1907G>A (p.Gly636Glu)
|
rs1765500413
|
|
|
NM_001256545.2(MEGF10):c.1910C>A (p.Pro637His)
|
rs1580866586
|
|
|
NM_001256545.2(MEGF10):c.1910C>T (p.Pro637Leu)
|
rs1580866586
|
|
|
NM_001256545.2(MEGF10):c.1914C>T (p.Cys638=)
|
rs1490813867
|
|
|
NM_001256545.2(MEGF10):c.1941C>T (p.Cys647=)
|
|
|
|
NM_001256545.2(MEGF10):c.1958G>A (p.Gly653Asp)
|
|
|
|
NM_001256545.2(MEGF10):c.195C>G (p.Asn65Lys)
|
|
|
|
NM_001256545.2(MEGF10):c.1972G>A (p.Glu658Lys)
|
rs1765502480
|
|
|
NM_001256545.2(MEGF10):c.1975+19C>T
|
|
|
|
NM_001256545.2(MEGF10):c.1975+20G>C
|
|
|
|
NM_001256545.2(MEGF10):c.1975+9C>T
|
|
|
|
NM_001256545.2(MEGF10):c.1975G>C (p.Val659Leu)
|
rs1580866706
|
|
|
NM_001256545.2(MEGF10):c.1976-7T>G
|
|
|
|
NM_001256545.2(MEGF10):c.1976-9T>G
|
rs759695616
|
|
|
NM_001256545.2(MEGF10):c.197G>T (p.Trp66Leu)
|
|
|
|
NM_001256545.2(MEGF10):c.198delinsACATTC (p.Trp66Ter)
|
rs1580733016
|
|
|
NM_001256545.2(MEGF10):c.1999A>G (p.Lys667Glu)
|
|
|
|
NM_001256545.2(MEGF10):c.2000A>G (p.Lys667Arg)
|
rs2127003826
|
|
|
NM_001256545.2(MEGF10):c.2007T>C (p.Cys669=)
|
|
|
|
NM_001256545.2(MEGF10):c.2019T>C (p.Cys673=)
|
rs2127003910
|
|
|
NM_001256545.2(MEGF10):c.2026A>G (p.Thr676Ala)
|
rs1580867525
|
|
|
NM_001256545.2(MEGF10):c.2028C>G (p.Thr676=)
|
|
|
|
NM_001256545.2(MEGF10):c.2029A>G (p.Asn677Asp)
|
|
|
|
NM_001256545.2(MEGF10):c.2031C>A (p.Asn677Lys)
|
|
|
|
NM_001256545.2(MEGF10):c.2033A>C (p.Asn678Thr)
|
rs1765522424
|
|
|
NM_001256545.2(MEGF10):c.2057G>T (p.Arg686Ile)
|
rs1448285273
|
|
|
NM_001256545.2(MEGF10):c.2065C>A (p.Gln689Lys)
|
rs1765523490
|
|
|
NM_001256545.2(MEGF10):c.2086G>A (p.Gly696Ser)
|
|
|
|
NM_001256545.2(MEGF10):c.2104+14G>C
|
|
|
|
NM_001256545.2(MEGF10):c.2104+17A>T
|
|
|
|
NM_001256545.2(MEGF10):c.2106A>G (p.Pro702=)
|
rs2127010286
|
|
|
NM_001256545.2(MEGF10):c.2112A>G (p.Pro704=)
|
|
|
|
NM_001256545.2(MEGF10):c.2144C>A (p.Thr715Lys)
|
rs147731088
|
|
|
NM_001256545.2(MEGF10):c.2151C>T (p.Asn717=)
|
rs1334325128
|
|
|
NM_001256545.2(MEGF10):c.2179T>C (p.Tyr727His)
|
rs1765638849
|
|
|
NM_001256545.2(MEGF10):c.218+11C>T
|
|
|
|
NM_001256545.2(MEGF10):c.218+16G>A
|
|
|
|
NM_001256545.2(MEGF10):c.218+8A>C
|
|
|
|
NM_001256545.2(MEGF10):c.2181C>T (p.Tyr727=)
|
|
|
|
NM_001256545.2(MEGF10):c.2187G>A (p.Gly729=)
|
|
|
|
NM_001256545.2(MEGF10):c.219-18_219-14del
|
|
|
|
NM_001256545.2(MEGF10):c.219-3T>C
|
rs1357482042
|
|
|
NM_001256545.2(MEGF10):c.219-4A>G
|
|
|
|
NM_001256545.2(MEGF10):c.2211G>C (p.Trp737Cys)
|
rs1765640354
|
|
|
NM_001256545.2(MEGF10):c.2227A>G (p.Thr743Ala)
|
rs1423139586
|
|
|
NM_001256545.2(MEGF10):c.2233+15T>G
|
rs766285419
|
|
|
NM_001256545.2(MEGF10):c.2281T>C (p.Cys761Arg)
|
rs1765727854
|
|
|
NM_001256545.2(MEGF10):c.2302G>A (p.Asp768Asn)
|
|
|
|
NM_001256545.2(MEGF10):c.2323A>G (p.Thr775Ala)
|
|
|
|
NM_001256545.2(MEGF10):c.2330G>T (p.Arg777Leu)
|
rs565304206
|
|
|
NM_001256545.2(MEGF10):c.2333C>G (p.Thr778Ser)
|
rs1419621714
|
|
|
NM_001256545.2(MEGF10):c.2338T>C (p.Phe780Leu)
|
|
|
|
NM_001256545.2(MEGF10):c.2341A>T (p.Met781Leu)
|
|
|
|
NM_001256545.2(MEGF10):c.2351A>G (p.His784Arg)
|
|
|
|
NM_001256545.2(MEGF10):c.2362+14T>C
|
|
|
|
NM_001256545.2(MEGF10):c.2362+17G>T
|
|
|
|
NM_001256545.2(MEGF10):c.2363-10C>G
|
|
|
|
NM_001256545.2(MEGF10):c.2363-6C>T
|
|
|
|
NM_001256545.2(MEGF10):c.2397C>A (p.Arg799=)
|
rs751687265
|
|
|
NM_001256545.2(MEGF10):c.240T>G (p.Tyr80Ter)
|
rs1234596293
|
|
|
NM_001256545.2(MEGF10):c.2410T>A (p.Cys804Ser)
|
rs2127019985
|
|
|
NM_001256545.2(MEGF10):c.241C>T (p.Arg81Ter)
|
|
|
|
NM_001256545.2(MEGF10):c.2431G>A (p.Asp811Asn)
|
rs1554102007
|
|
|
NM_001256545.2(MEGF10):c.2431G>C (p.Asp811His)
|
rs1554102007
|
|
|
NM_001256545.2(MEGF10):c.2460C>T (p.Ser820=)
|
|
|
|
NM_001256545.2(MEGF10):c.2463C>A (p.Pro821=)
|
rs139929890
|
|
|
NM_001256545.2(MEGF10):c.2464G>A (p.Gly822Arg)
|
rs1280125525
|
|
|
NM_001256545.2(MEGF10):c.2467T>A (p.Trp823Arg)
|
rs1402417139
|
|
|
NM_001256545.2(MEGF10):c.2482T>A (p.Cys828Ser)
|
|
|
|
NM_001256545.2(MEGF10):c.2491+10C>G
|
rs1240596387
|
|
|
NM_001256545.2(MEGF10):c.2492-10_2492-8del
|
rs1580879992
|
|
|
NM_001256545.2(MEGF10):c.2492-7T>C
|
rs576993642
|
|
|
NM_001256545.2(MEGF10):c.2495G>C (p.Gly832Ala)
|
rs1765907936
|
|
|
NM_001256545.2(MEGF10):c.249G>A (p.Gly83=)
|
|
|
|
NM_001256545.2(MEGF10):c.2530C>T (p.Arg844Ter)
|
rs1765909318
|
|
|
NM_001256545.2(MEGF10):c.2531G>C (p.Arg844Pro)
|
rs138372925
|
|
|
NM_001256545.2(MEGF10):c.2539A>C (p.Thr847Pro)
|
rs1765909921
|
|
|
NM_001256545.2(MEGF10):c.2566A>G (p.Ile856Val)
|
rs1765910939
|
|
|
NM_001256545.2(MEGF10):c.2566A>T (p.Ile856Phe)
|
rs1765910939
|
|
|
NM_001256545.2(MEGF10):c.2570G>C (p.Gly857Ala)
|
rs1580880208
|
|
|
NM_001256545.2(MEGF10):c.2582G>A (p.Gly861Asp)
|
|
|
|
NM_001256545.2(MEGF10):c.2632A>G (p.Ile878Val)
|
|
|
|
NM_001256545.2(MEGF10):c.2636A>G (p.Tyr879Cys)
|
rs1765915785
|
|
|
NM_001256545.2(MEGF10):c.2663C>G (p.Ser888Ter)
|
|
|
|
NM_001256545.2(MEGF10):c.2674G>A (p.Ala892Thr)
|
|
|
|
NM_001256545.2(MEGF10):c.2677G>A (p.Val893Ile)
|
|
|
|
NM_001256545.2(MEGF10):c.267G>T (p.Arg89Ser)
|
rs368073107
|
|
|
NM_001256545.2(MEGF10):c.2687C>A (p.Thr896Asn)
|
|
|
|
NM_001256545.2(MEGF10):c.2687C>T (p.Thr896Ile)
|
rs1218321550
|
|
|
NM_001256545.2(MEGF10):c.268C>A (p.Arg90Ser)
|
|
|
|
NM_001256545.2(MEGF10):c.2703C>T (p.Val901=)
|
|
|
|
NM_001256545.2(MEGF10):c.2704G>T (p.Val902Phe)
|
rs138034219
|
|
|
NM_001256545.2(MEGF10):c.2707A>C (p.Asn903His)
|
rs1580880504
|
|
|
NM_001256545.2(MEGF10):c.2709T>C (p.Asn903=)
|
|
|
|
NM_001256545.2(MEGF10):c.2728+17G>A
|
rs1765920624
|
|
|
NM_001256545.2(MEGF10):c.2728+18A>G
|
|
|
|
NM_001256545.2(MEGF10):c.2729-4G>T
|
|
|
|
NM_001256545.2(MEGF10):c.2729-7C>G
|
|
|
|
NM_001256545.2(MEGF10):c.2733C>A (p.Thr911=)
|
|
|
|
NM_001256545.2(MEGF10):c.2743A>C (p.Ser915Arg)
|
rs1387603431
|
|
|
NM_001256545.2(MEGF10):c.2747A>G (p.Asn916Ser)
|
|
|
|
NM_001256545.2(MEGF10):c.2760T>G (p.Ala920=)
|
|
|
|
NM_001256545.2(MEGF10):c.2785A>G (p.Ser929Gly)
|
|
|
|
NM_001256545.2(MEGF10):c.2796G>A (p.Thr932=)
|
rs536051825
|
|
|
NM_001256545.2(MEGF10):c.2812A>G (p.Thr938Ala)
|
|
|
|
NM_001256545.2(MEGF10):c.2821C>T (p.His941Tyr)
|
|
|
|
NM_001256545.2(MEGF10):c.2823C>T (p.His941=)
|
|
|
|
NM_001256545.2(MEGF10):c.2838C>A (p.Asp946Glu)
|
|
|
|
NM_001256545.2(MEGF10):c.2841G>C (p.Arg947Ser)
|
|
|
|
NM_001256545.2(MEGF10):c.2842A>C (p.Met948Leu)
|
rs1209069765
|
|
|
NM_001256545.2(MEGF10):c.2852C>G (p.Thr951Arg)
|
rs755639288
|
|
|
NM_001256545.2(MEGF10):c.2852C>T (p.Thr951Met)
|
rs755639288
|
|
|
NM_001256545.2(MEGF10):c.2856+13G>C
|
|
|
|
NM_001256545.2(MEGF10):c.2857-13A>T
|
|
|
|
NM_001256545.2(MEGF10):c.2857-14T>A
|
|
|
|
NM_001256545.2(MEGF10):c.2857-20G>A
|
|
|
|
NM_001256545.2(MEGF10):c.2857-2A>C
|
|
|
|
NM_001256545.2(MEGF10):c.2857-8T>C
|
rs201148765
|
|
|
NM_001256545.2(MEGF10):c.2870A>G (p.Gln957Arg)
|
rs1766057687
|
|
|
NM_001256545.2(MEGF10):c.2878G>A (p.Val960Met)
|
|
|
|
NM_001256545.2(MEGF10):c.2900C>T (p.Pro967Leu)
|
rs1474577162
|
|
|
NM_001256545.2(MEGF10):c.2928C>T (p.Cys976=)
|
|
|
|
NM_001256545.2(MEGF10):c.2930C>T (p.Thr977Ile)
|
rs1209092369
|
|
|
NM_001256545.2(MEGF10):c.2961C>A (p.Gly987=)
|
|
|
|
NM_001256545.2(MEGF10):c.2974G>A (p.Glu992Lys)
|
rs753902803
|
|
|
NM_001256545.2(MEGF10):c.2979C>T (p.Leu993=)
|
|
|
|
NM_001256545.2(MEGF10):c.2980+15C>T
|
|
|
|
NM_001256545.2(MEGF10):c.2980+20G>A
|
|
|
|
NM_001256545.2(MEGF10):c.2981-18T>A
|
|
|
|
NM_001256545.2(MEGF10):c.2988T>C (p.Phe996=)
|
|
|
|
NM_001256545.2(MEGF10):c.2998A>G (p.Arg1000Gly)
|
|
|
|
NM_001256545.2(MEGF10):c.3000A>G (p.Arg1000=)
|
rs2127043789
|
|
|
NM_001256545.2(MEGF10):c.3003C>G (p.Ser1001Arg)
|
rs35159176
|
|
|
NM_001256545.2(MEGF10):c.3005A>G (p.Tyr1002Cys)
|
rs566716623
|
|
|
NM_001256545.2(MEGF10):c.3018C>T (p.Ser1006=)
|
|
|
|
NM_001256545.2(MEGF10):c.3025+16G>C
|
rs375563689
|
|
|
NM_001256545.2(MEGF10):c.3025+16G>T
|
rs375563689
|
|
|
NM_001256545.2(MEGF10):c.3025+19G>C
|
|
|
|
NM_001256545.2(MEGF10):c.3025+7T>C
|
rs1340174065
|
|
|
NM_001256545.2(MEGF10):c.3026-14A>T
|
rs1766319878
|
|
|
NM_001256545.2(MEGF10):c.3026-17C>T
|
|
|
|
NM_001256545.2(MEGF10):c.3026-20C>T
|
|
|
|
NM_001256545.2(MEGF10):c.3034A>G (p.Lys1012Glu)
|
|
|
|
NM_001256545.2(MEGF10):c.3063C>T (p.Cys1021=)
|
rs981694140
|
|
|
NM_001256545.2(MEGF10):c.3066C>T (p.Ser1022=)
|
|
|
|
NM_001256545.2(MEGF10):c.3094del (p.Thr1032fs)
|
rs2127045645
|
|
|
NM_001256545.2(MEGF10):c.3108A>G (p.Pro1036=)
|
rs776916860
|
|
|
NM_001256545.2(MEGF10):c.3122C>T (p.Pro1041Leu)
|
|
|
|
NM_001256545.2(MEGF10):c.3123G>A (p.Pro1041=)
|
rs764182965
|
|
|
NM_001256545.2(MEGF10):c.3138T>C (p.Cys1046=)
|
rs2127045831
|
|
|
NM_001256545.2(MEGF10):c.3151A>G (p.Met1051Val)
|
|
|
|
NM_001256545.2(MEGF10):c.3161C>T (p.Pro1054Leu)
|
|
|
|
NM_001256545.2(MEGF10):c.3169A>T (p.Arg1057Ter)
|
rs1766329158
|
|
|
NM_001256545.2(MEGF10):c.3172G>A (p.Asp1058Asn)
|
|
|
|
NM_001256545.2(MEGF10):c.3182A>G (p.Tyr1061Cys)
|
rs2127046001
|
|
|
NM_001256545.2(MEGF10):c.319+13_319+14del
|
|
|
|
NM_001256545.2(MEGF10):c.319+17C>A
|
|
|
|
NM_001256545.2(MEGF10):c.319+17C>T
|
|
|
|
NM_001256545.2(MEGF10):c.319+1G>A
|
|
|
|
NM_001256545.2(MEGF10):c.319+1G>C
|
rs931073338
|
|
|
NM_001256545.2(MEGF10):c.3194A>G (p.Asn1065Ser)
|
rs770189857
|
|
|
NM_001256545.2(MEGF10):c.320-20A>G
|
|
|
|
NM_001256545.2(MEGF10):c.320-9C>G
|
rs1419866519
|
|
|
NM_001256545.2(MEGF10):c.3204T>C (p.Thr1068=)
|
|
|
|
NM_001256545.2(MEGF10):c.3207A>G (p.Ser1069=)
|
rs1580893562
|
|
|
NM_001256545.2(MEGF10):c.3215_3216delinsAC (p.Arg1072Asn)
|
rs386692223
|
|
|
NM_001256545.2(MEGF10):c.3232+14A>C
|
|
|
|
NM_001256545.2(MEGF10):c.3232+16C>G
|
|
|
|
NM_001256545.2(MEGF10):c.3232+1G>A
|
|
|
|
NM_001256545.2(MEGF10):c.3233-13T>C
|
|
|
|
NM_001256545.2(MEGF10):c.3239C>G (p.Thr1080Arg)
|
rs1018024748
|
|
|
NM_001256545.2(MEGF10):c.3244A>C (p.Ser1082Arg)
|
|
|
|
NM_001256545.2(MEGF10):c.3245G>C (p.Ser1082Thr)
|
|
|
|
NM_001256545.2(MEGF10):c.3252C>T (p.Val1084=)
|
rs2127049131
|
|
|
NM_001256545.2(MEGF10):c.3266G>A (p.Ser1089Asn)
|
|
|
|
NM_001256545.2(MEGF10):c.3322C>T (p.Pro1108Ser)
|
|
|
|
NM_001256545.2(MEGF10):c.3331T>C (p.Tyr1111His)
|
rs1064795277
|
|
|
NM_001256545.2(MEGF10):c.3351A>C (p.Arg1117=)
|
rs2127049418
|
|
|
NM_001256545.2(MEGF10):c.3374A>G (p.Gln1125Arg)
|
|
|
|
NM_001256545.2(MEGF10):c.3384T>C (p.Ser1128=)
|
rs1055806132
|
|
|
NM_001256545.2(MEGF10):c.3387_3388delinsAA (p.Gly1130Ser)
|
rs1766400841
|
|
|
NM_001256545.2(MEGF10):c.3392G>C (p.Ser1131Thr)
|
|
|
|
NM_001256545.2(MEGF10):c.3405C>A (p.Ser1135Arg)
|
rs1766402692
|
|
|
NM_001256545.2(MEGF10):c.3422G>A (p.Ter1141=)
|
|
|
|
NM_001256545.2(MEGF10):c.344A>G (p.His115Arg)
|
|
|
|
NM_001256545.2(MEGF10):c.349C>T (p.Arg117Cys)
|
|
|
|
NM_001256545.2(MEGF10):c.3G>T (p.Met1Ile)
|
|
|
|
NM_001256545.2(MEGF10):c.412+17T>C
|
|
|
|
NM_001256545.2(MEGF10):c.412+1G>T
|
|
|
|
NM_001256545.2(MEGF10):c.412+20T>C
|
rs1762794846
|
|
|
NM_001256545.2(MEGF10):c.412+2T>C
|
rs1561599823
|
|
|
NM_001256545.2(MEGF10):c.412+8T>C
|
rs201865582
|
|
|
NM_001256545.2(MEGF10):c.413-17T>C
|
|
|
|
NM_001256545.2(MEGF10):c.414C>T (p.Ala138=)
|
rs201114483
|
|
|
NM_001256545.2(MEGF10):c.424G>T (p.Asp142Tyr)
|
rs779874582
|
|
|
NM_001256545.2(MEGF10):c.461G>T (p.Cys154Phe)
|
rs1763921776
|
|
|
NM_001256545.2(MEGF10):c.470G>A (p.Gly157Glu)
|
|
|
|
NM_001256545.2(MEGF10):c.472G>A (p.Ala158Thr)
|
rs1287636458
|
|
|
NM_001256545.2(MEGF10):c.475C>T (p.Leu159=)
|
|
|
|
NM_001256545.2(MEGF10):c.476T>C (p.Leu159Pro)
|
rs2126921767
|
|
|
NM_001256545.2(MEGF10):c.480C>A (p.Cys160Ter)
|
|
|
|
NM_001256545.2(MEGF10):c.485C>G (p.Pro162Arg)
|
rs2126921820
|
|
|
NM_001256545.2(MEGF10):c.493G>A (p.Gly165Arg)
|
|
|
|
NM_001256545.2(MEGF10):c.493G>C (p.Gly165Arg)
|
rs765084824
|
|
|
NM_001256545.2(MEGF10):c.505T>G (p.Cys169Gly)
|
rs1223549168
|
|
|
NM_001256545.2(MEGF10):c.513G>A (p.Ala171=)
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|
|
|
NM_001256545.2(MEGF10):c.519C>T (p.Phe173=)
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|
|
|
NM_001256545.2(MEGF10):c.51C>T (p.Cys17=)
|
rs1258252287
|
|
|
NM_001256545.2(MEGF10):c.520C>A (p.Arg174=)
|
rs756799749
|
|
|
NM_001256545.2(MEGF10):c.533G>T (p.Cys178Phe)
|
rs2126922023
|
|
|
NM_001256545.2(MEGF10):c.542G>A (p.Arg181His)
|
rs377547826
|
|
|
NM_001256545.2(MEGF10):c.542G>T (p.Arg181Leu)
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|
|
|
NM_001256545.2(MEGF10):c.550C>T (p.Gln184Ter)
|
rs1763927242
|
|
|
NM_001256545.2(MEGF10):c.557C>G (p.Thr186Ser)
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|
|
|
NM_001256545.2(MEGF10):c.568G>A (p.Asp190Asn)
|
rs756704626
|
|
|
NM_001256545.2(MEGF10):c.572G>A (p.Cys191Tyr)
|
rs1012722382
|
|
|
NM_001256545.2(MEGF10):c.578A>G (p.Gln193Arg)
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|
|
|
NM_001256545.2(MEGF10):c.581G>A (p.Arg194Lys)
|
rs1023202749
|
|
|
NM_001256545.2(MEGF10):c.621G>A (p.Thr207=)
|
|
|
|
NM_001256545.2(MEGF10):c.622G>A (p.Gly208Arg)
|
|
|
|
NM_001256545.2(MEGF10):c.651C>G (p.Thr217=)
|
|
|
|
NM_001256545.2(MEGF10):c.651C>T (p.Thr217=)
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|
|
|
NM_001256545.2(MEGF10):c.659+16C>T
|
|
|
|
NM_001256545.2(MEGF10):c.659+17C>G
|
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|
|
NM_001256545.2(MEGF10):c.660-13G>T
|
|
|
|
NM_001256545.2(MEGF10):c.660-15A>G
|
|
|
|
NM_001256545.2(MEGF10):c.689A>G (p.His230Arg)
|
rs776233986
|
|
|
NM_001256545.2(MEGF10):c.68C>A (p.Ala23Glu)
|
|
|
|
NM_001256545.2(MEGF10):c.690T>A (p.His230Gln)
|
|
|
|
NM_001256545.2(MEGF10):c.699G>A (p.Gln233=)
|
|
|
|
NM_001256545.2(MEGF10):c.700T>A (p.Cys234Ser)
|
rs1156618898
|
|
|
NM_001256545.2(MEGF10):c.702T>A (p.Cys234Ter)
|
|
|
|
NM_001256545.2(MEGF10):c.706C>A (p.Gln236Lys)
|
|
|
|
NM_001256545.2(MEGF10):c.721C>T (p.Gln241Ter)
|
|
|
|
NM_001256545.2(MEGF10):c.733G>A (p.Val245Met)
|
rs755790851
|
|
|
NM_001256545.2(MEGF10):c.740A>G (p.His247Arg)
|
rs767932327
|
|
|
NM_001256545.2(MEGF10):c.743A>G (p.His248Arg)
|
rs1286512106
|
|
|
NM_001256545.2(MEGF10):c.750T>C (p.Thr250=)
|
rs1554097814
|
|
|
NM_001256545.2(MEGF10):c.769T>C (p.Ser257Pro)
|
rs1482140533
|
|
|
NM_001256545.2(MEGF10):c.778A>C (p.Met260Leu)
|
rs1764021167
|
|
|
NM_001256545.2(MEGF10):c.780+11T>G
|
|
|
|
NM_001256545.2(MEGF10):c.781-1G>A
|
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|
|
NM_001256545.2(MEGF10):c.781-4G>A
|
|
|
|
NM_001256545.2(MEGF10):c.786A>G (p.Thr262=)
|
rs893078096
|
|
|
NM_001256545.2(MEGF10):c.806C>T (p.Pro269Leu)
|
rs1427203192
|
|
|
NM_001256545.2(MEGF10):c.814C>T (p.Arg272Cys)
|
rs748380473
|
|
|
NM_001256545.2(MEGF10):c.815G>A (p.Arg272His)
|
|
|
|
NM_001256545.2(MEGF10):c.815del (p.Arg272fs)
|
rs2126934788
|
|
|
NM_001256545.2(MEGF10):c.81T>C (p.Asn27=)
|
rs1580723407
|
|
|
NM_001256545.2(MEGF10):c.871G>A (p.Ala291Thr)
|
rs893376574
|
|
|
NM_001256545.2(MEGF10):c.878C>T (p.Thr293Ile)
|
|
|
|
NM_001256545.2(MEGF10):c.888T>C (p.Cys296=)
|
|
|
|
NM_001256545.2(MEGF10):c.88G>C (p.Asp30His)
|
rs1761253902
|
|
|
NM_001256545.2(MEGF10):c.891T>C (p.His297=)
|
rs1764178672
|
|
|
NM_001256545.2(MEGF10):c.90C>T (p.Asp30=)
|
rs140458094
|
|
|
NM_001256545.2(MEGF10):c.917+13C>A
|
|
|
|
NM_001256545.2(MEGF10):c.917+16G>A
|
|
|
|
NM_001256545.2(MEGF10):c.917+7G>A
|
rs758554167
|
|
|
NM_001256545.2(MEGF10):c.917G>C (p.Arg306Pro)
|
|
|
|
NM_001256545.2(MEGF10):c.926A>T (p.Asp309Val)
|
rs1764508104
|
|
|
NM_001256545.2(MEGF10):c.944C>T (p.Thr315Ile)
|
rs1727704535
|
|
|
NM_001256545.2(MEGF10):c.954T>C (p.Val318=)
|
rs1580833127
|
|
|
NM_001256545.2(MEGF10):c.956T>C (p.Leu319Pro)
|
rs991317565
|
|
|
NM_001256545.2(MEGF10):c.966G>C (p.Glu322Asp)
|
|
|
|
NM_001256545.2(MEGF10):c.975G>A (p.Gln325=)
|
|
|
|
NM_001256545.2(MEGF10):c.976T>C (p.Cys326Arg)
|
rs387907073
|
|
|
NM_001256545.2(MEGF10):c.980T>C (p.Val327Ala)
|
|
|
|
NM_001256545.2(MEGF10):c.99G>T (p.Val33=)
|
|
|
|
NM_001256850.1(TTN):c.19885+5G>A
|
rs1064796629
|
|
|
NM_001256850.1(TTN):c.75630_75631delinsTT (p.Arg25211Cys)
|
rs397517716
|
|
|
NM_001256850.1(TTN):c.86916dup (p.Val28973fs)
|
rs730880365
|
|
|
NM_001256850.1(TTN):c.92873-10T>C
|
rs1553512260
|
|
|
NM_001267550.2(TTN):c.100018_100022dup (p.Leu33341fs)
|
|
|
|
NM_001267550.2(TTN):c.100021T>C (p.Leu33341=)
|
rs2154137977
|
|
|
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs)
|
rs727503537
|
|
|
NM_001267550.2(TTN):c.100044G>A (p.Val33348=)
|
rs56080118
|
|
|
NM_001267550.2(TTN):c.100059T>C (p.Ile33353=)
|
|
|
|
NM_001267550.2(TTN):c.100060G>C (p.Val33354Leu)
|
rs879221791
|
|
|
NM_001267550.2(TTN):c.100065C>T (p.Asn33355=)
|
|
|
|
NM_001267550.2(TTN):c.100105C>T (p.Gln33369Ter)
|
rs1553503201
|
|
|
NM_001267550.2(TTN):c.100112del (p.Thr33371fs)
|
|
|
|
NM_001267550.2(TTN):c.100122C>A (p.Ile33374=)
|
rs779537238
|
|
|
NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs)
|
rs1553503113
|
|
|
NM_001267550.2(TTN):c.100131T>G (p.Pro33377=)
|
rs1240151281
|
|
|
NM_001267550.2(TTN):c.100133T>G (p.Leu33378Arg)
|
rs1060500454
|
|
|
NM_001267550.2(TTN):c.100135G>T (p.Glu33379Ter)
|
rs1691881913
|
|
|
NM_001267550.2(TTN):c.100161del (p.Ser33388fs)
|
|
|
|
NM_001267550.2(TTN):c.100169_100170del (p.Pro33389_Phe33390insTer)
|
|
|
|
NM_001267550.2(TTN):c.100171+16T>C
|
|
|
|
NM_001267550.2(TTN):c.100171+16_100171+17insA
|
rs2154137874
|
|
|
NM_001267550.2(TTN):c.100171+1_100171+2insAAGAGTCCATTTGGAGGCAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_001267550.2(TTN):c.100171+3G>A
|
|
|
|
NM_001267550.2(TTN):c.100171+7A>G
|
rs2154137886
|
|
|
NM_001267550.2(TTN):c.100171+9_100171+11del
|
|
|
|
NM_001267550.2(TTN):c.100172-10del
|
rs397517782
|
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
|
NM_001267550.2(TTN):c.100172-18C>G
|
|
|
|
NM_001267550.2(TTN):c.100172-1G>C
|
rs2154137558
|
|
|
NM_001267550.2(TTN):c.100172-3T>C
|
rs1312922352
|
|
|
NM_001267550.2(TTN):c.100172-9_100172-7del
|
|
|
|
NM_001267550.2(TTN):c.100185T>C (p.Ala33395=)
|
rs2154137549
|
|
|
NM_001267550.2(TTN):c.100194A>T (p.Lys33398Asn)
|
rs1060500553
|
|
|
NM_001267550.2(TTN):c.100200T>G (p.Thr33400=)
|
|
|
|
NM_001267550.2(TTN):c.100201_100205del (p.Ile33401fs)
|
|
|
|
NM_001267550.2(TTN):c.100209T>C (p.Ala33403=)
|
|
|
|
NM_001267550.2(TTN):c.100229_100233del (p.Val33410fs)
|
|
|
|
NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu)
|
rs72648282
|
|
|
NM_001267550.2(TTN):c.100248T>C (p.Pro33416=)
|
|
|
|
NM_001267550.2(TTN):c.100287T>C (p.Leu33429=)
|
|
|
|
NM_001267550.2(TTN):c.100299G>A (p.Glu33433=)
|
rs879015914
|
|
|
NM_001267550.2(TTN):c.100325del (p.Val33442fs)
|
rs1691525574
|
|
|
NM_001267550.2(TTN):c.100335A>G (p.Glu33445=)
|
rs770586154
|
|
|
NM_001267550.2(TTN):c.100341T>C (p.Ile33447=)
|
|
|
|
NM_001267550.2(TTN):c.100342C>T (p.Arg33448Ter)
|
|
|
|
NM_001267550.2(TTN):c.100362G>A (p.Val33454=)
|
|
|
|
NM_001267550.2(TTN):c.100367_100368insGA (p.Asn33456fs)
|
|
|
|
NM_001267550.2(TTN):c.100367_100368insT (p.Leu33457fs)
|
rs2154137420
|
|
|
NM_001267550.2(TTN):c.100367del (p.Asn33456fs)
|
rs2154137422
|
|
|
NM_001267550.2(TTN):c.100369del (p.Ile33458fs)
|
rs2154137417
|
|
|
NM_001267550.2(TTN):c.100374T>C (p.Ile33458=)
|
|
|
|
NM_001267550.2(TTN):c.100380T>C (p.Gly33460=)
|
|
|
|
NM_001267550.2(TTN):c.100390G>T (p.Glu33464Ter)
|
rs374920916
|
|
|
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)
|
rs189626540
|
|
|
NM_001267550.2(TTN):c.100416A>G (p.Leu33472=)
|
rs878875694
|
|
|
NM_001267550.2(TTN):c.100436G>A (p.Ser33479Asn)
|
rs1553501815
|
|
|
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs)
|
rs878854281
|
|
|
NM_001267550.2(TTN):c.10044C>T (p.Ile3348=)
|
rs1553983924
|
|
|
NM_001267550.2(TTN):c.100455C>T (p.Ile33485=)
|
rs2154137332
|
|
|
NM_001267550.2(TTN):c.100458T>C (p.Thr33486=)
|
|
|
|
NM_001267550.2(TTN):c.100470T>C (p.Asp33490=)
|
rs2154137324
|
|
|
NM_001267550.2(TTN):c.100527T>C (p.Tyr33509=)
|
rs746029690
|
|
|
NM_001267550.2(TTN):c.100530G>A (p.Gln33510=)
|
|
|
|
NM_001267550.2(TTN):c.100533C>T (p.Ser33511=)
|
|
|
|
NM_001267550.2(TTN):c.100590C>T (p.Tyr33530=)
|
|
|
|
NM_001267550.2(TTN):c.100591A>C (p.Arg33531=)
|
rs1691408114
|
|
|
NM_001267550.2(TTN):c.100594C>T (p.Gln33532Ter)
|
|
|
|
NM_001267550.2(TTN):c.100608C>T (p.Ile33536=)
|
|
|
|
NM_001267550.2(TTN):c.100611T>A (p.Ile33537=)
|
|
|
|
NM_001267550.2(TTN):c.100621T>C (p.Leu33541=)
|
|
|
|
NM_001267550.2(TTN):c.10062del (p.Val3355fs)
|
rs1553983844
|
|
|
NM_001267550.2(TTN):c.100641dup (p.Phe33548fs)
|
rs2154137207
|
|
|
NM_001267550.2(TTN):c.10065C>G (p.Val3355=)
|
rs766884321
|
|
|
NM_001267550.2(TTN):c.10065C>T (p.Val3355=)
|
rs766884321
|
|
|
NM_001267550.2(TTN):c.100701_100702dup (p.Tyr33568fs)
|
rs2154137167
|
|
|
NM_001267550.2(TTN):c.100710C>T (p.Val33570=)
|
|
|
|
NM_001267550.2(TTN):c.100723C>T (p.Gln33575Ter)
|
rs2154137150
|
|
|
NM_001267550.2(TTN):c.100728G>A (p.Gly33576=)
|
rs2154137144
|
|
|
NM_001267550.2(TTN):c.100765+15_100765+18del
|
|
|
|
NM_001267550.2(TTN):c.100765+19T>C
|
|
|
|
NM_001267550.2(TTN):c.100765+5AAAT[2]
|
|
|
|
NM_001267550.2(TTN):c.100766-10_100766-9insTC
|
rs779410830
|
|
|
NM_001267550.2(TTN):c.100766-11_100766-10delinsCC
|
rs1060503962
|
|
|
NM_001267550.2(TTN):c.100766-1G>T
|
|
|
|
NM_001267550.2(TTN):c.100766-20_100766-19insC
|
|
|
|
NM_001267550.2(TTN):c.100766-2A>T
|
rs1364779690
|
|
|
NM_001267550.2(TTN):c.100766-5_100766-4del
|
rs2154136951
|
|
|
NM_001267550.2(TTN):c.100779A>G (p.Ile33593Met)
|
|
|
|
NM_001267550.2(TTN):c.100786C>T (p.Pro33596Ser)
|
rs927922351
|
|
|
NM_001267550.2(TTN):c.100787C>T (p.Pro33596Leu)
|
|
|
|
NM_001267550.2(TTN):c.100790A>G (p.Lys33597Arg)
|
|
|
|
NM_001267550.2(TTN):c.100791_100792insGTGTACCTAAA (p.Thr33598fs)
|
rs1691180795
|
|
|
NM_001267550.2(TTN):c.100796T>C (p.Leu33599Pro)
|
rs775361062
|
|
|
NM_001267550.2(TTN):c.100800A>C (p.Glu33600Asp)
|
rs1575299834
|
|
|
NM_001267550.2(TTN):c.100804A>G (p.Met33602Val)
|
rs759368043
|
|
|
NM_001267550.2(TTN):c.100811C>T (p.Ala33604Val)
|
|
|
|
NM_001267550.2(TTN):c.100820C>T (p.Ala33607Val)
|
|
|
|
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)
|
rs1057518195
|
|
|
NM_001267550.2(TTN):c.100829G>T (p.Gly33610Val)
|
rs373754986
|
|
|
NM_001267550.2(TTN):c.100832A>T (p.Glu33611Val)
|
rs2154136906
|
|
|
NM_001267550.2(TTN):c.100850T>C (p.Ile33617Thr)
|
|
|
|
NM_001267550.2(TTN):c.100858A>C (p.Ser33620Arg)
|
rs1553500669
|
|
|
NM_001267550.2(TTN):c.100872T>C (p.Asp33624=)
|
|
|
|
NM_001267550.2(TTN):c.100880T>C (p.Ile33627Thr)
|
rs1553500627
|
|
|
NM_001267550.2(TTN):c.100883C>T (p.Thr33628Ile)
|
rs200085900
|
|
|
NM_001267550.2(TTN):c.100883_100886dup (p.Trp33629fs)
|
|
|
|
NM_001267550.2(TTN):c.100900G>T (p.Asp33634Tyr)
|
rs1691138917
|
|
|
NM_001267550.2(TTN):c.100906dup (p.Ile33636fs)
|
|
|
|
NM_001267550.2(TTN):c.100907T>C (p.Ile33636Thr)
|
|
|
|
NM_001267550.2(TTN):c.100919G>T (p.Gly33640Val)
|
|
|
|
NM_001267550.2(TTN):c.100920C>A (p.Gly33640=)
|
|
|
|
NM_001267550.2(TTN):c.100921C>T (p.His33641Tyr)
|
rs1357251504
|
|
|
NM_001267550.2(TTN):c.100923C>G (p.His33641Gln)
|
rs1691127745
|
|
|
NM_001267550.2(TTN):c.100924_100940del (p.Tyr33642fs)
|
|
|
|
NM_001267550.2(TTN):c.100926C>T (p.Tyr33642=)
|
|
|
|
NM_001267550.2(TTN):c.100934T>C (p.Ile33645Thr)
|
|
|
|
NM_001267550.2(TTN):c.100941A>G (p.Thr33647=)
|
|
|
|
NM_001267550.2(TTN):c.100942_100944delinsT (p.Arg33648fs)
|
rs1559050685
|
|
|
NM_001267550.2(TTN):c.100947del (p.Phe33650fs)
|
rs1691117338
|
|
|
NM_001267550.2(TTN):c.100953A>G (p.Thr33651=)
|
|
|
|
NM_001267550.2(TTN):c.100953A>T (p.Thr33651=)
|
rs1382391114
|
|
|
NM_001267550.2(TTN):c.100957C>T (p.Leu33653Phe)
|
rs1178063403
|
|
|
NM_001267550.2(TTN):c.100958T>C (p.Leu33653Pro)
|
rs1691110010
|
|
|
NM_001267550.2(TTN):c.100962T>A (p.Val33654=)
|
rs1248985052
|
|
|
NM_001267550.2(TTN):c.100970A>G (p.Asn33657Ser)
|
rs769340667
|
|
|
NM_001267550.2(TTN):c.100971T>C (p.Asn33657=)
|
|
|
|
NM_001267550.2(TTN):c.100973G>C (p.Gly33658Ala)
|
rs2154136811
|
|
|
NM_001267550.2(TTN):c.100976T>C (p.Val33659Ala)
|
rs2154136807
|
|
|
NM_001267550.2(TTN):c.100980G>A (p.Glu33660=)
|
rs727503536
|
|
|
NM_001267550.2(TTN):c.100980G>C (p.Glu33660Asp)
|
rs727503536
|
|
|
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys)
|
rs201857158
|
|
|
NM_001267550.2(TTN):c.101003T>C (p.Val33668Ala)
|
rs372534712
|
|
|
NM_001267550.2(TTN):c.101008T>C (p.Cys33670Arg)
|
rs1575296634
|
|
|
NM_001267550.2(TTN):c.101009G>A (p.Cys33670Tyr)
|
rs749219080
|
|
|
NM_001267550.2(TTN):c.101016A>G (p.Lys33672=)
|
rs1575296525
|
|
|
NM_001267550.2(TTN):c.101027del (p.Gly33676fs)
|
rs2154136770
|
|
|
NM_001267550.2(TTN):c.101035C>T (p.Gln33679Ter)
|
rs561471402
|
|
|
NM_001267550.2(TTN):c.101040G>A (p.Lys33680=)
|
|
|
|
NM_001267550.2(TTN):c.101045T>C (p.Val33682Ala)
|
|
|
|
NM_001267550.2(TTN):c.101047G>A (p.Glu33683Lys)
|
|
|
|
NM_001267550.2(TTN):c.101050C>G (p.Leu33684Val)
|
rs775824162
|
|
|
NM_001267550.2(TTN):c.101052G>T (p.Leu33684=)
|
|
|
|
NM_001267550.2(TTN):c.101053G>A (p.Asp33685Asn)
|
rs1575295828
|
|
|
NM_001267550.2(TTN):c.101055T>A (p.Asp33685Glu)
|
|
|
|
NM_001267550.2(TTN):c.101056G>A (p.Val33686Met)
|
|
|
|
NM_001267550.2(TTN):c.101060C>G (p.Ala33687Gly)
|
|
|
|
NM_001267550.2(TTN):c.101062G>T (p.Asp33688Tyr)
|
|
|
|
NM_001267550.2(TTN):c.101068C>G (p.Pro33690Ala)
|
|
|
|
NM_001267550.2(TTN):c.101075C>G (p.Pro33692Arg)
|
|
|
|
NM_001267550.2(TTN):c.101076A>G (p.Pro33692=)
|
|
|
|
NM_001267550.2(TTN):c.101081G>A (p.Arg33694Lys)
|
rs747732590
|
|
|
NM_001267550.2(TTN):c.101084G>A (p.Gly33695Glu)
|
rs1553499879
|
|
|
NM_001267550.2(TTN):c.101090A>C (p.Lys33697Thr)
|
rs1691033741
|
|
|
NM_001267550.2(TTN):c.101094_101097del (p.Ser33699fs)
|
rs1691030502
|
|
|
NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs)
|
rs869312122
|
|
|
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs)
|
rs794729367
|
|
|
NM_001267550.2(TTN):c.101100T>C (p.Asp33700=)
|
|
|
|
NM_001267550.2(TTN):c.101103C>G (p.Val33701=)
|
|
|
|
NM_001267550.2(TTN):c.101117T>C (p.Val33706Ala)
|
rs1261733710
|
|
|
NM_001267550.2(TTN):c.101127A>G (p.Thr33709=)
|
rs565614320
|
|
|
NM_001267550.2(TTN):c.101129G>A (p.Trp33710Ter)
|
|
|
|
NM_001267550.2(TTN):c.10112C>T (p.Thr3371Ile)
|
rs1060500429
|
|
|
NM_001267550.2(TTN):c.101130G>T (p.Trp33710Cys)
|
|
|
|
NM_001267550.2(TTN):c.101134G>A (p.Glu33712Lys)
|
|
|
|
NM_001267550.2(TTN):c.101136G>C (p.Glu33712Asp)
|
rs1060503937
|
|
|
NM_001267550.2(TTN):c.101137C>T (p.Pro33713Ser)
|
|
|
|
NM_001267550.2(TTN):c.10114+11G>A
|
|
|
|
NM_001267550.2(TTN):c.10114+15A>G
|
|
|
|
NM_001267550.2(TTN):c.10114+19G>T
|
rs781529874
|
|
|
NM_001267550.2(TTN):c.10114+1G>T
|
rs2154339650
|
|
|
NM_001267550.2(TTN):c.10114+5G>T
|
rs115985443
|
|
|
NM_001267550.2(TTN):c.101140G>C (p.Ala33714Pro)
|
|
|
|
NM_001267550.2(TTN):c.101142C>A (p.Ala33714=)
|
|
|
|
NM_001267550.2(TTN):c.101146G>A (p.Asp33716Asn)
|
|
|
|
NM_001267550.2(TTN):c.101148T>C (p.Asp33716=)
|
|
|
|
NM_001267550.2(TTN):c.10115-15T>A
|
|
|
|
NM_001267550.2(TTN):c.10115-16T>G
|
rs2154336897
|
|
|
NM_001267550.2(TTN):c.10115-20T>A
|
|
|
|
NM_001267550.2(TTN):c.10115-2A>G
|
|
|
|
NM_001267550.2(TTN):c.101153G>A (p.Gly33718Asp)
|
|
|
|
NM_001267550.2(TTN):c.101155A>T (p.Ser33719Cys)
|
rs2154136682
|
|
|
NM_001267550.2(TTN):c.101174T>C (p.Ile33725Thr)
|
|
|
|
NM_001267550.2(TTN):c.101179G>C (p.Glu33727Gln)
|
|
|
|
NM_001267550.2(TTN):c.10117C>T (p.Leu3373=)
|
rs1182847537
|
|
|
NM_001267550.2(TTN):c.101184A>T (p.Lys33728Asn)
|
|
|
|
NM_001267550.2(TTN):c.101187T>A (p.Cys33729Ter)
|
|
|
|
NM_001267550.2(TTN):c.101191A>G (p.Thr33731Ala)
|
rs746383312
|
|
|
NM_001267550.2(TTN):c.101194A>G (p.Thr33732Ala)
|
rs1690986189
|
|
|
NM_001267550.2(TTN):c.101199A>C (p.Ala33733=)
|
rs1321908456
|
|
|
NM_001267550.2(TTN):c.101200G>C (p.Glu33734Gln)
|
|
|
|
NM_001267550.2(TTN):c.101206T>G (p.Trp33736Gly)
|
rs1690982138
|
|
|
NM_001267550.2(TTN):c.101207G>A (p.Trp33736Ter)
|
rs2154136654
|
|
|
NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter)
|
rs1559047711
|
|
|
NM_001267550.2(TTN):c.10122A>G (p.Lys3374=)
|
|
|
|
NM_001267550.2(TTN):c.10122del (p.Val3375fs)
|
|
|
|
NM_001267550.2(TTN):c.101230del (p.Glu33744fs)
|
rs1575293252
|
|
|
NM_001267550.2(TTN):c.101233A>G (p.Thr33745Ala)
|
|
|
|
NM_001267550.2(TTN):c.101233A>T (p.Thr33745Ser)
|
rs1690964903
|
|
|
NM_001267550.2(TTN):c.101242A>C (p.Thr33748Pro)
|
rs1575292990
|
|
|
NM_001267550.2(TTN):c.101248A>T (p.Ile33750Phe)
|
rs1690954165
|
|
|
NM_001267550.2(TTN):c.101252A>G (p.Asn33751Ser)
|
|
|
|
NM_001267550.2(TTN):c.101256_101258del (p.Leu33752del)
|
rs1690948347
|
|
|
NM_001267550.2(TTN):c.101258T>C (p.Phe33753Ser)
|
|
|
|
NM_001267550.2(TTN):c.10125G>A (p.Val3375=)
|
|
|
|
NM_001267550.2(TTN):c.101268A>C (p.Thr33756=)
|
rs1690944440
|
|
|
NM_001267550.2(TTN):c.101286A>C (p.Val33762=)
|
rs2154136586
|
|
|
NM_001267550.2(TTN):c.101291C>G (p.Ala33764Gly)
|
rs773542514
|
|
|
NM_001267550.2(TTN):c.10129del (p.Trp3377fs)
|
rs2088238871
|
|
|
NM_001267550.2(TTN):c.101305_101306delinsTC (p.Gly33769Ser)
|
|
|
|
NM_001267550.2(TTN):c.101306G>A (p.Gly33769Asp)
|
rs1553499045
|
|
|
NM_001267550.2(TTN):c.101307T>C (p.Gly33769=)
|
|
|
|
NM_001267550.2(TTN):c.101313C>T (p.Ser33771=)
|
rs2154136571
|
|
|
NM_001267550.2(TTN):c.101323G>A (p.Glu33775Lys)
|
rs1690927632
|
|
|
NM_001267550.2(TTN):c.101330C>T (p.Ser33777Leu)
|
|
|
|
NM_001267550.2(TTN):c.101339C>T (p.Thr33780Ile)
|
rs2154136558
|
|
|
NM_001267550.2(TTN):c.101341A>G (p.Ile33781Val)
|
|
|
|
NM_001267550.2(TTN):c.101346C>A (p.Thr33782=)
|
|
|
|
NM_001267550.2(TTN):c.10134C>T (p.Tyr3378=)
|
rs2154336870
|
|
|
NM_001267550.2(TTN):c.101350G>C (p.Glu33784Gln)
|
|
|
|
NM_001267550.2(TTN):c.101354A>G (p.Asp33785Gly)
|
|
|
|
NM_001267550.2(TTN):c.101355T>A (p.Asp33785Glu)
|
|
|
|
NM_001267550.2(TTN):c.101369T>A (p.Met33790Lys)
|
rs876658097
|
|
|
NM_001267550.2(TTN):c.101374T>C (p.Tyr33792His)
|
|
|
|
NM_001267550.2(TTN):c.101377G>A (p.Asp33793Asn)
|
|
|
|
NM_001267550.2(TTN):c.101385G>A (p.Glu33795=)
|
|
|
|
NM_001267550.2(TTN):c.101397C>G (p.Thr33799=)
|
|
|
|
NM_001267550.2(TTN):c.101405T>G (p.Val33802Gly)
|
|
|
|
NM_001267550.2(TTN):c.101415T>G (p.Thr33805=)
|
rs763434134
|
|
|
NM_001267550.2(TTN):c.101417A>C (p.Lys33806Thr)
|
|
|
|
NM_001267550.2(TTN):c.101420C>T (p.Ala33807Val)
|
rs1351679447
|
|
|
NM_001267550.2(TTN):c.101427C>T (p.His33809=)
|
|
|
|
NM_001267550.2(TTN):c.10143C>T (p.Asp3381=)
|
rs2154336866
|
|
|
NM_001267550.2(TTN):c.101440del (p.Glu33814fs)
|
rs1690880184
|
|
|
NM_001267550.2(TTN):c.101446T>C (p.Tyr33816His)
|
|
|
|
NM_001267550.2(TTN):c.101447A>T (p.Tyr33816Phe)
|
rs2154136483
|
|
|
NM_001267550.2(TTN):c.101448T>C (p.Tyr33816=)
|
|
|
|
NM_001267550.2(TTN):c.10144A>T (p.Lys3382Ter)
|
|
|
|
NM_001267550.2(TTN):c.101458_101459del (p.Met33820fs)
|
|
|
|
NM_001267550.2(TTN):c.101472T>A (p.Asp33824Glu)
|
rs1575290013
|
|
|
NM_001267550.2(TTN):c.101476G>C (p.Gly33826Arg)
|
|
|
|
NM_001267550.2(TTN):c.101479C>A (p.Arg33827Ser)
|
|
|
|
NM_001267550.2(TTN):c.101486A>T (p.Glu33829Val)
|
|
|
|
NM_001267550.2(TTN):c.101494dup (p.Ile33832fs)
|
rs1559044465
|
|
|
NM_001267550.2(TTN):c.1014T>C (p.Gly338=)
|
rs1309092386
|
|
|
NM_001267550.2(TTN):c.101500C>T (p.His33834Tyr)
|
|
|
|
NM_001267550.2(TTN):c.101503C>A (p.Arg33835Ser)
|
rs781516399
|
|
|
NM_001267550.2(TTN):c.101506_101508del (p.Cys33836del)
|
rs1690847769
|
|
|
NM_001267550.2(TTN):c.101521T>C (p.Ser33841Pro)
|
|
|
|
NM_001267550.2(TTN):c.101528A>C (p.Lys33843Thr)
|
rs1690840610
|
|
|
NM_001267550.2(TTN):c.101532A>G (p.Thr33844=)
|
rs776839796
|
|
|
NM_001267550.2(TTN):c.101533T>A (p.Tyr33845Asn)
|
|
|
|
NM_001267550.2(TTN):c.101533T>C (p.Tyr33845His)
|
rs1227515280
|
|
|
NM_001267550.2(TTN):c.101538G>A (p.Met33846Ile)
|
rs1690830241
|
|
|
NM_001267550.2(TTN):c.101562G>C (p.Gly33854=)
|
|
|
|
NM_001267550.2(TTN):c.101567A>T (p.Asp33856Val)
|
rs1690813389
|
|
|
NM_001267550.2(TTN):c.101567del (p.Asp33856fs)
|
rs1690814987
|
|
|
NM_001267550.2(TTN):c.101573T>C (p.Val33858Ala)
|
rs1172459056
|
|
|
NM_001267550.2(TTN):c.101576T>G (p.Leu33859Trp)
|
|
|
|
NM_001267550.2(TTN):c.101580A>G (p.Val33860=)
|
rs1060503929
|
|
|
NM_001267550.2(TTN):c.10158A>G (p.Pro3386=)
|
|
|
|
NM_001267550.2(TTN):c.101590A>G (p.Ile33864Val)
|
|
|
|
NM_001267550.2(TTN):c.101591T>C (p.Ile33864Thr)
|
|
|
|
NM_001267550.2(TTN):c.101599C>T (p.Leu33867=)
|
|
|
|
NM_001267550.2(TTN):c.101601G>A (p.Leu33867=)
|
rs2154136379
|
|
|
NM_001267550.2(TTN):c.101613G>A (p.Arg33871=)
|
rs797046068
|
|
|
NM_001267550.2(TTN):c.101613G>T (p.Arg33871Ser)
|
|
|
|
NM_001267550.2(TTN):c.101614C>A (p.His33872Asn)
|
rs1690791818
|
|
|
NM_001267550.2(TTN):c.101616T>C (p.His33872=)
|
rs1275685669
|
|
|
NM_001267550.2(TTN):c.10161T>G (p.Ser3387=)
|
rs930506981
|
|
|
NM_001267550.2(TTN):c.101627dup (p.Leu33876fs)
|
rs1690787769
|
|
|
NM_001267550.2(TTN):c.101628A>G (p.Leu33876=)
|
rs2154136364
|
|
|
NM_001267550.2(TTN):c.101629C>A (p.His33877Asn)
|
rs1690786587
|
|
|
NM_001267550.2(TTN):c.101629C>T (p.His33877Tyr)
|
rs1690786587
|
|
|
NM_001267550.2(TTN):c.101632C>T (p.Leu33878Phe)
|
|
|
|
NM_001267550.2(TTN):c.101635C>T (p.His33879Tyr)
|
|
|
|
NM_001267550.2(TTN):c.101645T>C (p.Phe33882Ser)
|
|
|
|
NM_001267550.2(TTN):c.101665G>C (p.Val33889Leu)
|
rs34924609
|
|
|
NM_001267550.2(TTN):c.101665_101668del (p.Leu33888_Val33889insTer)
|
rs2154136319
|
|
|
NM_001267550.2(TTN):c.101675T>C (p.Phe33892Ser)
|
rs1275405365
|
|
|
NM_001267550.2(TTN):c.101676dup (p.Glu33893Ter)
|
|
|
|
NM_001267550.2(TTN):c.101679G>A (p.Glu33893=)
|
rs764487443
|
|
|
NM_001267550.2(TTN):c.101683A>G (p.Ile33895Val)
|
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|
|
NM_001267550.2(TTN):c.101685A>G (p.Ile33895Met)
|
rs2154136307
|
|
|
NM_001267550.2(TTN):c.101687C>A (p.Ser33896Ter)
|
rs376813674
|
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|
NM_001267550.2(TTN):c.101692C>T (p.Leu33898Phe)
|
rs371930491
|
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|
NM_001267550.2(TTN):c.101693T>C (p.Leu33898Pro)
|
rs1575286611
|
|
|
NM_001267550.2(TTN):c.101694dup (p.Asp33899Ter)
|
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|
|
NM_001267550.2(TTN):c.101696A>G (p.Asp33899Gly)
|
rs794729560
|
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|
NM_001267550.2(TTN):c.101704G>T (p.Glu33902Ter)
|
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|
|
NM_001267550.2(TTN):c.101706G>A (p.Glu33902=)
|
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|
|
NM_001267550.2(TTN):c.101706G>C (p.Glu33902Asp)
|
rs1559042152
|
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|
NM_001267550.2(TTN):c.101707C>G (p.Arg33903Gly)
|
rs772574722
|
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|
NM_001267550.2(TTN):c.101709C>T (p.Arg33903=)
|
rs2154136283
|
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|
NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter)
|
rs943777958
|
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|
NM_001267550.2(TTN):c.101730A>G (p.Glu33910=)
|
rs2154136273
|
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|
NM_001267550.2(TTN):c.101737G>A (p.Glu33913Lys)
|
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|
|
NM_001267550.2(TTN):c.101747T>C (p.Ile33916Thr)
|
rs2154136265
|
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|
NM_001267550.2(TTN):c.101747T>G (p.Ile33916Ser)
|
|
|
|
NM_001267550.2(TTN):c.101754T>G (p.Ser33918Arg)
|
rs952080555
|
|
|
NM_001267550.2(TTN):c.101757T>C (p.Tyr33919=)
|
|
|
|
NM_001267550.2(TTN):c.101757T>G (p.Tyr33919Ter)
|
|
|
|
NM_001267550.2(TTN):c.101761C>T (p.His33921Tyr)
|
|
|
|
NM_001267550.2(TTN):c.101763C>T (p.His33921=)
|
|
|
|
NM_001267550.2(TTN):c.101766G>T (p.Gln33922His)
|
|
|
|
NM_001267550.2(TTN):c.101768T>C (p.Val33923Ala)
|
|
|
|
NM_001267550.2(TTN):c.101789del (p.Leu33930fs)
|
rs1575285509
|
|
|
NM_001267550.2(TTN):c.101792A>G (p.His33931Arg)
|
|
|
|
NM_001267550.2(TTN):c.101793_101794del (p.His33931fs)
|
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|
|
NM_001267550.2(TTN):c.10179T>G (p.Thr3393=)
|
rs2154336851
|
|
|
NM_001267550.2(TTN):c.101804T>C (p.Ile33935Thr)
|
|
|
|
NM_001267550.2(TTN):c.101809C>A (p.His33937Asn)
|
|
|
|
NM_001267550.2(TTN):c.101817C>T (p.Asp33939=)
|
rs2154136212
|
|
|
NM_001267550.2(TTN):c.101820T>C (p.Ile33940=)
|
rs2154136208
|
|
|
NM_001267550.2(TTN):c.101830A>T (p.Asn33944Tyr)
|
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|
|
NM_001267550.2(TTN):c.101831A>G (p.Asn33944Ser)
|
rs2154136201
|
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|
NM_001267550.2(TTN):c.101833A>G (p.Ile33945Val)
|
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|
|
NM_001267550.2(TTN):c.101837T>C (p.Ile33946Thr)
|
|
|
|
NM_001267550.2(TTN):c.101845A>G (p.Thr33949Ala)
|
|
|
|
NM_001267550.2(TTN):c.10186_10192delinsATCATT (p.Glu3396fs)
|
rs1553972275
|
|
|
NM_001267550.2(TTN):c.101870T>C (p.Ile33957Thr)
|
|
|
|
NM_001267550.2(TTN):c.101887G>A (p.Ala33963Thr)
|
|
|
|
NM_001267550.2(TTN):c.101888C>T (p.Ala33963Val)
|
rs2154136158
|
|
|
NM_001267550.2(TTN):c.101902C>A (p.Pro33968Thr)
|
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|
|
NM_001267550.2(TTN):c.101904A>C (p.Pro33968=)
|
rs1220438080
|
|
|
NM_001267550.2(TTN):c.101910C>T (p.Asp33970=)
|
|
|
|
NM_001267550.2(TTN):c.101911A>C (p.Asn33971His)
|
rs2154136145
|
|
|
NM_001267550.2(TTN):c.101912A>T (p.Asn33971Ile)
|
rs1553497184
|
|
|
NM_001267550.2(TTN):c.101920del (p.Leu33974fs)
|
rs1690665406
|
|
|
NM_001267550.2(TTN):c.101922T>A (p.Leu33974=)
|
|
|
|
NM_001267550.2(TTN):c.101931T>G (p.Thr33977=)
|
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|
|
NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter)
|
rs1575283255
|
|
|
NM_001267550.2(TTN):c.101945A>G (p.Tyr33982Cys)
|
|
|
|
NM_001267550.2(TTN):c.101947_101948delinsAA (p.Ala33983Lys)
|
rs1690652304
|
|
|
NM_001267550.2(TTN):c.101948C>T (p.Ala33983Val)
|
rs1553497101
|
|
|
NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter)
|
rs534613934
|
|
|
NM_001267550.2(TTN):c.101959C>T (p.His33987Tyr)
|
|
|
|
NM_001267550.2(TTN):c.101964G>C (p.Gln33988His)
|
|
|
|
NM_001267550.2(TTN):c.101971G>T (p.Val33991Phe)
|
|
|
|
NM_001267550.2(TTN):c.101972T>A (p.Val33991Asp)
|
|
|
|
NM_001267550.2(TTN):c.101978G>A (p.Ser33993Asn)
|
|
|
|
NM_001267550.2(TTN):c.101985dup (p.Thr33996fs)
|
|
|
|
NM_001267550.2(TTN):c.101986A>G (p.Thr33996Ala)
|
rs1690632346
|
|
|
NM_001267550.2(TTN):c.101992_101993del (p.Met33998fs)
|
|
|
|
NM_001267550.2(TTN):c.101993T>C (p.Met33998Thr)
|
rs1559039438
|
|
|
NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter)
|
rs869312068
|
|
|
NM_001267550.2(TTN):c.101997G>C (p.Trp33999Cys)
|
rs764821435
|
|
|
NM_001267550.2(TTN):c.102002T>C (p.Leu34001Pro)
|
rs2154136066
|
|
|
NM_001267550.2(TTN):c.102005G>A (p.Gly34002Glu)
|
|
|
|
NM_001267550.2(TTN):c.102009A>T (p.Thr34003=)
|
rs2154136064
|
|
|
NM_001267550.2(TTN):c.10200A>G (p.Gln3400=)
|
rs2088219073
|
|
|
NM_001267550.2(TTN):c.102013G>A (p.Val34005Ile)
|
rs1690621219
|
|
|
NM_001267550.2(TTN):c.102018T>C (p.Tyr34006=)
|
rs761186144
|
|
|
NM_001267550.2(TTN):c.102036C>T (p.Ile34012=)
|
rs2154136041
|
|
|
NM_001267550.2(TTN):c.102038A>C (p.Asn34013Thr)
|
rs1559038960
|
|
|
NM_001267550.2(TTN):c.102040C>T (p.Pro34014Ser)
|
|
|
|
NM_001267550.2(TTN):c.102041C>A (p.Pro34014Gln)
|
|
|
|
NM_001267550.2(TTN):c.102043T>C (p.Phe34015Leu)
|
|
|
|
NM_001267550.2(TTN):c.102057del (p.Asn34020fs)
|
rs1690605753
|
|
|
NM_001267550.2(TTN):c.102061C>T (p.Gln34021Ter)
|
rs1060500471
|
|
|
NM_001267550.2(TTN):c.102067A>G (p.Ile34023Val)
|
|
|
|
NM_001267550.2(TTN):c.102071T>C (p.Ile34024Thr)
|
|
|
|
NM_001267550.2(TTN):c.102073G>A (p.Glu34025Lys)
|
|
|
|
NM_001267550.2(TTN):c.102085A>C (p.Asn34029His)
|
rs1690593497
|
|
|
NM_001267550.2(TTN):c.102087T>A (p.Asn34029Lys)
|
rs1690590871
|
|
|
NM_001267550.2(TTN):c.102094T>A (p.Tyr34032Asn)
|
|
|
|
NM_001267550.2(TTN):c.1020A>G (p.Glu340=)
|
rs2154356231
|
|
|
NM_001267550.2(TTN):c.102105T>C (p.Asp34035=)
|
rs370647845
|
|
|
NM_001267550.2(TTN):c.102106G>A (p.Glu34036Lys)
|
|
|
|
NM_001267550.2(TTN):c.102112G>A (p.Ala34038Thr)
|
rs1690579265
|
|
|
NM_001267550.2(TTN):c.102115T>C (p.Phe34039Leu)
|
rs1178807411
|
|
|
NM_001267550.2(TTN):c.102118A>G (p.Lys34040Glu)
|
|
|
|
NM_001267550.2(TTN):c.102129C>A (p.Ser34043Arg)
|
rs2154135970
|
|
|
NM_001267550.2(TTN):c.10212C>G (p.Ala3404=)
|
|
|
|
NM_001267550.2(TTN):c.102130A>C (p.Ile34044Leu)
|
rs1690568887
|
|
|
NM_001267550.2(TTN):c.102130A>G (p.Ile34044Val)
|
|
|
|
NM_001267550.2(TTN):c.102132T>C (p.Ile34044=)
|
|
|
|
NM_001267550.2(TTN):c.102140T>C (p.Met34047Thr)
|
rs745563787
|
|
|
NM_001267550.2(TTN):c.102142G>T (p.Asp34048Tyr)
|
|
|
|
NM_001267550.2(TTN):c.102147T>C (p.Phe34049=)
|
|
|
|
NM_001267550.2(TTN):c.102148G>A (p.Val34050Ile)
|
rs1575280335
|
|
|
NM_001267550.2(TTN):c.102152A>T (p.Asp34051Val)
|
|
|
|
NM_001267550.2(TTN):c.102153C>T (p.Asp34051=)
|
|
|
|
NM_001267550.2(TTN):c.102154C>T (p.Arg34052Trp)
|
rs756924372
|
|
|
NM_001267550.2(TTN):c.102156G>A (p.Arg34052=)
|
|
|
|
NM_001267550.2(TTN):c.102165G>A (p.Val34055=)
|
rs2154135953
|
|
|
NM_001267550.2(TTN):c.102171G>C (p.Glu34057Asp)
|
|
|
|
NM_001267550.2(TTN):c.102176_102177del (p.Lys34059fs)
|
|
|
|
NM_001267550.2(TTN):c.10218T>G (p.Ala3406=)
|
|
|
|
NM_001267550.2(TTN):c.102193T>C (p.Ser34065Pro)
|
rs1690528772
|
|
|
NM_001267550.2(TTN):c.102202C>T (p.Leu34068Phe)
|
rs999356407
|
|
|
NM_001267550.2(TTN):c.102205C>T (p.Gln34069Ter)
|
|
|
|
NM_001267550.2(TTN):c.102212C>G (p.Pro34071Arg)
|
|
|
|
NM_001267550.2(TTN):c.102213A>T (p.Pro34071=)
|
|
|
|
NM_001267550.2(TTN):c.102219G>A (p.Leu34073=)
|
rs2154135883
|
|
|
NM_001267550.2(TTN):c.102221A>G (p.Lys34074Arg)
|
|
|
|
NM_001267550.2(TTN):c.102222G>A (p.Lys34074=)
|
rs748885900
|
|
|
NM_001267550.2(TTN):c.102222G>C (p.Lys34074Asn)
|
|
|
|
NM_001267550.2(TTN):c.102230T>C (p.Ile34077Thr)
|
rs1290306844
|
|
|
NM_001267550.2(TTN):c.102232_102233inv (p.Glu34078Ser)
|
|
|
|
NM_001267550.2(TTN):c.102234A>T (p.Glu34078Asp)
|
rs1043486033
|
|
|
NM_001267550.2(TTN):c.102234_102237del (p.Arg34079fs)
|
rs754731686
|
|
|
NM_001267550.2(TTN):c.102240C>T (p.Val34080=)
|
rs1575278575
|
|
|
NM_001267550.2(TTN):c.102242G>C (p.Ser34081Thr)
|
rs1690505739
|
|
|
NM_001267550.2(TTN):c.102243T>C (p.Ser34081=)
|
|
|
|
NM_001267550.2(TTN):c.102245C>A (p.Thr34082Asn)
|
|
|
|
NM_001267550.2(TTN):c.102246T>C (p.Thr34082=)
|
rs1690502998
|
|
|
NM_001267550.2(TTN):c.102269A>C (p.His34090Pro)
|
|
|
|
NM_001267550.2(TTN):c.102269_102270dup (p.Arg34091fs)
|
rs751329439
|
|
|
NM_001267550.2(TTN):c.102280T>C (p.Tyr34094His)
|
|
|
|
NM_001267550.2(TTN):c.102281A>C (p.Tyr34094Ser)
|
|
|
|
NM_001267550.2(TTN):c.102289del (p.Thr34096_Leu34097insTer)
|
rs2154135814
|
|
|
NM_001267550.2(TTN):c.102293T>A (p.Ile34098Asn)
|
rs1480810435
|
|
|
NM_001267550.2(TTN):c.102300del (p.Asp34101fs)
|
rs2154135804
|
|
|
NM_001267550.2(TTN):c.102303C>T (p.Asp34101=)
|
rs2154135802
|
|
|
NM_001267550.2(TTN):c.102309_102310insCCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGACCTCAAC (p.Met34104delinsProAsnAlaArgTer)
|
rs2154135797
|
|
|
NM_001267550.2(TTN):c.102314T>A (p.Val34105Asp)
|
|
|
|
NM_001267550.2(TTN):c.102316G>C (p.Val34106Leu)
|
|
|
|
NM_001267550.2(TTN):c.102318G>T (p.Val34106=)
|
|
|
|
NM_001267550.2(TTN):c.102329G>C (p.Arg34110Pro)
|
rs565347600
|
|
|
NM_001267550.2(TTN):c.102330G>A (p.Arg34110=)
|
rs1429348347
|
|
|
NM_001267550.2(TTN):c.102339T>G (p.Cys34113Trp)
|
rs794729561
|
|
|
NM_001267550.2(TTN):c.102344G>A (p.Gly34115Asp)
|
rs1342246182
|
|
|
NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter)
|
rs1212204584
|
|
|
NM_001267550.2(TTN):c.102360G>A (p.Gln34120=)
|
|
|
|
NM_001267550.2(TTN):c.102365G>T (p.Gly34122Val)
|
|
|
|
NM_001267550.2(TTN):c.102371G>A (p.Ser34124Asn)
|
|
|
|
NM_001267550.2(TTN):c.102373G>A (p.Val34125Ile)
|
|
|
|
NM_001267550.2(TTN):c.102374T>C (p.Val34125Ala)
|
|
|
|
NM_001267550.2(TTN):c.102375del (p.Ala34126fs)
|
rs2154135741
|
|
|
NM_001267550.2(TTN):c.102381A>C (p.Lys34127Asn)
|
|
|
|
NM_001267550.2(TTN):c.102388_102397del (p.Val34130fs)
|
|
|
|
NM_001267550.2(TTN):c.1023G>T (p.Val341=)
|
rs1060503956
|
|
|
NM_001267550.2(TTN):c.102403A>G (p.Ile34135Val)
|
|
|
|
NM_001267550.2(TTN):c.102404T>C (p.Ile34135Thr)
|
rs917268577
|
|
|
NM_001267550.2(TTN):c.10241del (p.Tyr3414fs)
|
rs2154336829
|
|
|
NM_001267550.2(TTN):c.102421C>A (p.Gln34141Lys)
|
|
|
|
NM_001267550.2(TTN):c.102423G>T (p.Gln34141His)
|
rs1553495068
|
|
|
NM_001267550.2(TTN):c.102426A>G (p.Ile34142Met)
|
|
|
|
NM_001267550.2(TTN):c.102430C>T (p.His34144Tyr)
|
rs560027565
|
|
|
NM_001267550.2(TTN):c.102431A>G (p.His34144Arg)
|
rs1553495003
|
|
|
NM_001267550.2(TTN):c.102437T>C (p.Val34146Ala)
|
rs1690411709
|
|
|
NM_001267550.2(TTN):c.102441T>C (p.Gly34147=)
|
rs1575275811
|
|
|
NM_001267550.2(TTN):c.102442G>A (p.Glu34148Lys)
|
rs1372227820
|
|
|
NM_001267550.2(TTN):c.102445G>C (p.Glu34149Gln)
|
|
|
|
NM_001267550.2(TTN):c.102446A>C (p.Glu34149Ala)
|
|
|
|
NM_001267550.2(TTN):c.102448G>A (p.Gly34150Arg)
|
|
|
|
NM_001267550.2(TTN):c.102452G>A (p.Gly34151Glu)
|
|
|
|
NM_001267550.2(TTN):c.102453A>G (p.Gly34151=)
|
rs2154135700
|
|
|
NM_001267550.2(TTN):c.102455A>G (p.His34152Arg)
|
|
|
|
NM_001267550.2(TTN):c.102456T>A (p.His34152Gln)
|
rs758384544
|
|
|
NM_001267550.2(TTN):c.102456T>G (p.His34152Gln)
|
|
|
|
NM_001267550.2(TTN):c.102458T>A (p.Val34153Asp)
|
rs2154135691
|
|
|
NM_001267550.2(TTN):c.10245G>A (p.Thr3415=)
|
|
|
|
NM_001267550.2(TTN):c.102464A>G (p.Tyr34155Cys)
|
|
|
|
NM_001267550.2(TTN):c.102465T>C (p.Tyr34155=)
|
rs1371416890
|
|
|
NM_001267550.2(TTN):c.102468A>G (p.Val34156=)
|
|
|
|
NM_001267550.2(TTN):c.102469T>G (p.Cys34157Gly)
|
|
|
|
NM_001267550.2(TTN):c.102476T>C (p.Ile34159Thr)
|
rs1690397017
|
|
|
NM_001267550.2(TTN):c.102481A>T (p.Asn34161Tyr)
|
|
|
|
NM_001267550.2(TTN):c.102488A>G (p.Asp34163Gly)
|
|
|
|
NM_001267550.2(TTN):c.102491A>G (p.Gln34164Arg)
|
|
|
|
NM_001267550.2(TTN):c.102498C>T (p.Thr34166=)
|
rs2154135673
|
|
|
NM_001267550.2(TTN):c.102502G>A (p.Val34168Met)
|
rs2154135668
|
|
|
NM_001267550.2(TTN):c.102503T>C (p.Val34168Ala)
|
|
|
|
NM_001267550.2(TTN):c.102508T>G (p.Trp34170Gly)
|
rs778786999
|
|
|
NM_001267550.2(TTN):c.102510G>C (p.Trp34170Cys)
|
rs1559033550
|
|
|
NM_001267550.2(TTN):c.102512A>T (p.Tyr34171Phe)
|
|
|
|
NM_001267550.2(TTN):c.102516T>C (p.Phe34172=)
|
rs1690382907
|
|
|
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)
|
rs752697861
|
|
|
NM_001267550.2(TTN):c.102526C>T (p.Gln34176Ter)
|
|
|
|
NM_001267550.2(TTN):c.102529C>A (p.Leu34177Met)
|
|
|
|
NM_001267550.2(TTN):c.102531G>A (p.Leu34177=)
|
rs1575274682
|
|
|
NM_001267550.2(TTN):c.102537_102538del (p.Asn34179fs)
|
|
|
|
NM_001267550.2(TTN):c.102538_102539inv (p.Ser34180Leu)
|
|
|
|
NM_001267550.2(TTN):c.102540T>A (p.Ser34180Arg)
|
|
|
|
NM_001267550.2(TTN):c.102541G>A (p.Glu34181Lys)
|
rs1559033148
|
|
|
NM_001267550.2(TTN):c.102541G>T (p.Glu34181Ter)
|
|
|
|
NM_001267550.2(TTN):c.102545A>C (p.Lys34182Thr)
|
rs1348175807
|
|
|
NM_001267550.2(TTN):c.102549C>A (p.Tyr34183Ter)
|
|
|
|
NM_001267550.2(TTN):c.10254T>C (p.Ala3418=)
|
|
|
|
NM_001267550.2(TTN):c.102551A>C (p.Glu34184Ala)
|
rs920777916
|
|
|
NM_001267550.2(TTN):c.102554T>C (p.Ile34185Thr)
|
rs1280013764
|
|
|
NM_001267550.2(TTN):c.102566A>T (p.Asp34189Val)
|
rs2154135620
|
|
|
NM_001267550.2(TTN):c.102573G>A (p.Val34191=)
|
rs151209395
|
|
|
NM_001267550.2(TTN):c.102575C>T (p.Ala34192Val)
|
rs1690350047
|
|
|
NM_001267550.2(TTN):c.102579C>A (p.Ile34193=)
|
rs1317954218
|
|
|
NM_001267550.2(TTN):c.102579C>T (p.Ile34193=)
|
|
|
|
NM_001267550.2(TTN):c.102582C>G (p.Leu34194=)
|
|
|
|
NM_001267550.2(TTN):c.102585T>A (p.Tyr34195Ter)
|
rs1690344942
|
|
|
NM_001267550.2(TTN):c.102588C>T (p.Val34196=)
|
rs2154135600
|
|
|
NM_001267550.2(TTN):c.102591A>C (p.Lys34197Asn)
|
|
|
|
NM_001267550.2(TTN):c.102592G>A (p.Asp34198Asn)
|
rs948836784
|
|
|
NM_001267550.2(TTN):c.102594_102595inv (p.Ile34199Val)
|
|
|
|
NM_001267550.2(TTN):c.102607G>C (p.Asp34203His)
|
rs1189437049
|
|
|
NM_001267550.2(TTN):c.102607_102615del (p.Asp34203_Gly34205del)
|
rs1559032218
|
|
|
NM_001267550.2(TTN):c.102610G>A (p.Asp34204Asn)
|
|
|
|
NM_001267550.2(TTN):c.102612T>A (p.Asp34204Glu)
|
rs2154135586
|
|
|
NM_001267550.2(TTN):c.102621C>T (p.Tyr34207=)
|
rs1553494225
|
|
|
NM_001267550.2(TTN):c.102626G>A (p.Cys34209Tyr)
|
rs2154135569
|
|
|
NM_001267550.2(TTN):c.102628A>G (p.Lys34210Glu)
|
rs1690321634
|
|
|
NM_001267550.2(TTN):c.102630_102645dup (p.Gly34216delinsSerSerGlnTer)
|
rs2154135556
|
|
|
NM_001267550.2(TTN):c.102632T>C (p.Val34211Ala)
|
rs2154135563
|
|
|
NM_001267550.2(TTN):c.102633A>C (p.Val34211=)
|
rs2154135560
|
|
|
NM_001267550.2(TTN):c.102642C>G (p.Asp34214Glu)
|
rs766760792
|
|
|
NM_001267550.2(TTN):c.102642C>T (p.Asp34214=)
|
rs766760792
|
|
|
NM_001267550.2(TTN):c.102646G>A (p.Gly34216Ser)
|
|
|
|
NM_001267550.2(TTN):c.102646G>T (p.Gly34216Cys)
|
|
|
|
NM_001267550.2(TTN):c.102648T>C (p.Gly34216=)
|
|
|
|
NM_001267550.2(TTN):c.102659C>T (p.Ser34220Phe)
|
|
|
|
NM_001267550.2(TTN):c.102663T>C (p.Tyr34221=)
|
|
|
|
NM_001267550.2(TTN):c.102670C>A (p.Leu34224Ile)
|
|
|
|
NM_001267550.2(TTN):c.102674T>C (p.Phe34225Ser)
|
|
|
|
NM_001267550.2(TTN):c.102676G>C (p.Val34226Leu)
|
|
|
|
NM_001267550.2(TTN):c.102694G>C (p.Val34232Leu)
|
rs2154135535
|
|
|
NM_001267550.2(TTN):c.102699T>C (p.Tyr34233=)
|
rs770672571
|
|
|
NM_001267550.2(TTN):c.1026T>G (p.Pro342=)
|
|
|
|
NM_001267550.2(TTN):c.10270C>T (p.Gln3424Ter)
|
|
|
|
NM_001267550.2(TTN):c.102714T>C (p.Arg34238=)
|
|
|
|
NM_001267550.2(TTN):c.102718_102719del (p.Thr34240fs)
|
rs1559031280
|
|
|
NM_001267550.2(TTN):c.102720C>A (p.Thr34240=)
|
|
|
|
NM_001267550.2(TTN):c.102721A>G (p.Met34241Val)
|
rs1690291255
|
|
|
NM_001267550.2(TTN):c.102725A>C (p.Lys34242Thr)
|
rs1553493858
|
|
|
NM_001267550.2(TTN):c.102725A>G (p.Lys34242Arg)
|
rs1553493858
|
|
|
NM_001267550.2(TTN):c.102735G>A (p.Lys34245=)
|
|
|
|
NM_001267550.2(TTN):c.102743C>T (p.Thr34248Ile)
|
|
|
|
NM_001267550.2(TTN):c.102744del (p.Asp34249fs)
|
rs2154135500
|
|
|
NM_001267550.2(TTN):c.102745G>C (p.Asp34249His)
|
rs1575271973
|
|
|
NM_001267550.2(TTN):c.102749C>A (p.Thr34250Lys)
|
rs1575271907
|
|
|
NM_001267550.2(TTN):c.102749del (p.Thr34250fs)
|
rs2154135490
|
|
|
NM_001267550.2(TTN):c.102752T>C (p.Met34251Thr)
|
rs750864230
|
|
|
NM_001267550.2(TTN):c.102768G>A (p.Arg34256=)
|
|
|
|
NM_001267550.2(TTN):c.102772C>T (p.Pro34258Ser)
|
rs752360286
|
|
|
NM_001267550.2(TTN):c.102784C>T (p.Leu34262=)
|
|
|
|
NM_001267550.2(TTN):c.102792C>G (p.Leu34264=)
|
rs2154135452
|
|
|
NM_001267550.2(TTN):c.102794A>G (p.Tyr34265Cys)
|
rs1559030437
|
|
|
NM_001267550.2(TTN):c.102795TAA[1] (p.Asn34266del)
|
rs886044414
|
|
|
NM_001267550.2(TTN):c.102796_102798delinsTATA (p.Asn34266fs)
|
rs1060500589
|
|
|
NM_001267550.2(TTN):c.102797A>G (p.Asn34266Ser)
|
|
|
|
NM_001267550.2(TTN):c.102800A>T (p.Lys34267Met)
|
|
|
|
NM_001267550.2(TTN):c.102803C>G (p.Thr34268Arg)
|
|
|
|
NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile)
|
rs794727542
|
|
|
NM_001267550.2(TTN):c.102811G>T (p.Val34271Leu)
|
rs794727542
|
|
|
NM_001267550.2(TTN):c.102813A>G (p.Val34271=)
|
|
|
|
NM_001267550.2(TTN):c.102815G>A (p.Gly34272Asp)
|
|
|
|
NM_001267550.2(TTN):c.102816T>C (p.Gly34272=)
|
rs978699834
|
|
|
NM_001267550.2(TTN):c.10281C>T (p.Ser3427=)
|
|
|
|
NM_001267550.2(TTN):c.102822T>C (p.Asn34274=)
|
rs1480278078
|
|
|
NM_001267550.2(TTN):c.102841A>C (p.Ile34281Leu)
|
rs758945559
|
|
|
NM_001267550.2(TTN):c.102853C>T (p.Pro34285Ser)
|
|
|
|
NM_001267550.2(TTN):c.10285_10288dup (p.Asn3430fs)
|
rs2088191243
|
|
|
NM_001267550.2(TTN):c.102872_102878del (p.Trp34291fs)
|
rs2154135366
|
|
|
NM_001267550.2(TTN):c.102874T>C (p.Tyr34292His)
|
|
|
|
NM_001267550.2(TTN):c.102885T>C (p.Gly34295=)
|
rs886039175
|
|
|
NM_001267550.2(TTN):c.102890A>C (p.Lys34297Thr)
|
rs1559029083
|
|
|
NM_001267550.2(TTN):c.102891A>C (p.Lys34297Asn)
|
rs1019464699
|
|
|
NM_001267550.2(TTN):c.102893T>C (p.Ile34298Thr)
|
rs1690192341
|
|
|
NM_001267550.2(TTN):c.102897A>G (p.Lys34299=)
|
rs2154135353
|
|
|
NM_001267550.2(TTN):c.102903T>C (p.Gly34301=)
|
|
|
|
NM_001267550.2(TTN):c.10290C>T (p.Asn3430=)
|
rs2088189848
|
|
|
NM_001267550.2(TTN):c.102911A>G (p.Asp34304Gly)
|
|
|
|
NM_001267550.2(TTN):c.102913AAG[1] (p.Lys34306del)
|
rs762798421
|
|
|
NM_001267550.2(TTN):c.102916A>T (p.Lys34306Ter)
|
rs1575269011
|
|
|
NM_001267550.2(TTN):c.102917A>G (p.Lys34306Arg)
|
rs2154135329
|
|
|
NM_001267550.2(TTN):c.102919T>A (p.Tyr34307Asn)
|
|
|
|
NM_001267550.2(TTN):c.102921C>T (p.Tyr34307=)
|
rs2154135325
|
|
|
NM_001267550.2(TTN):c.102926T>C (p.Phe34309Ser)
|
|
|
|
NM_001267550.2(TTN):c.102933A>G (p.Ser34311=)
|
|
|
|
NM_001267550.2(TTN):c.102934G>A (p.Asp34312Asn)
|
rs1690170603
|
|
|
NM_001267550.2(TTN):c.102937_102940dup (p.Gly34314fs)
|
rs2154135311
|
|
|
NM_001267550.2(TTN):c.102938A>C (p.Lys34313Thr)
|
|
|
|
NM_001267550.2(TTN):c.102938A>G (p.Lys34313Arg)
|
rs1027988280
|
|
|
NM_001267550.2(TTN):c.102939G>A (p.Lys34313=)
|
|
|
|
NM_001267550.2(TTN):c.10293G>A (p.Leu3431=)
|
rs2154336805
|
|
|
NM_001267550.2(TTN):c.102940G>T (p.Gly34314Cys)
|
|
|
|
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del)
|
rs878854378
|
|
|
NM_001267550.2(TTN):c.10296T>C (p.Ser3432=)
|
|
|
|
NM_001267550.2(TTN):c.10297C>T (p.Leu3433=)
|
|
|
|
NM_001267550.2(TTN):c.102982G>T (p.Asp34328Tyr)
|
|
|
|
NM_001267550.2(TTN):c.102986C>T (p.Ala34329Val)
|
|
|
|
NM_001267550.2(TTN):c.102994A>G (p.Thr34332Ala)
|
|
|
|
NM_001267550.2(TTN):c.102997G>A (p.Val34333Ile)
|
rs763815899
|
|
|
NM_001267550.2(TTN):c.102999T>A (p.Val34333=)
|
|
|
|
NM_001267550.2(TTN):c.1029C>T (p.Pro343=)
|
|
|
|
NM_001267550.2(TTN):c.102T>C (p.Val34=)
|
|
|
|
NM_001267550.2(TTN):c.103000G>A (p.Val34334Met)
|
|
|
|
NM_001267550.2(TTN):c.103011C>T (p.Asn34337=)
|
rs1575267192
|
|
|
NM_001267550.2(TTN):c.103015T>C (p.Tyr34339His)
|
|
|
|
NM_001267550.2(TTN):c.103018G>A (p.Gly34340Ser)
|
|
|
|
NM_001267550.2(TTN):c.103018G>T (p.Gly34340Cys)
|
|
|
|
NM_001267550.2(TTN):c.103019G>A (p.Gly34340Asp)
|
|
|
|
NM_001267550.2(TTN):c.103020T>A (p.Gly34340=)
|
rs1690123204
|
|
|
NM_001267550.2(TTN):c.103021G>T (p.Glu34341Ter)
|
|
|
|
NM_001267550.2(TTN):c.103026C>G (p.Asp34342Glu)
|
rs1690121378
|
|
|
NM_001267550.2(TTN):c.10303+7T>A
|
rs2154336799
|
|
|
NM_001267550.2(TTN):c.10304-11C>A
|
|
|
|
NM_001267550.2(TTN):c.10304-12G>A
|
|
|
|
NM_001267550.2(TTN):c.10304-18T>C
|
|
|
|
NM_001267550.2(TTN):c.10304-19T>C
|
|
|
|
NM_001267550.2(TTN):c.10304-4T>C
|
rs2154336190
|
|
|
NM_001267550.2(TTN):c.103043_103044insA (p.Thr34349fs)
|
rs1690115787
|
|
|
NM_001267550.2(TTN):c.103044G>C (p.Leu34348=)
|
rs2154135240
|
|
|
NM_001267550.2(TTN):c.103048G>A (p.Val34350Ile)
|
rs2154135237
|
|
|
NM_001267550.2(TTN):c.103052C>T (p.Thr34351Ile)
|
rs772319019
|
|
|
NM_001267550.2(TTN):c.103054C>T (p.Leu34352=)
|
rs2154135232
|
|
|
NM_001267550.2(TTN):c.103059C>A (p.His34353Gln)
|
rs2154135228
|
|
|
NM_001267550.2(TTN):c.103060C>A (p.Pro34354Thr)
|
|
|
|
NM_001267550.2(TTN):c.103061del (p.Pro34354fs)
|
rs1690111134
|
|
|
NM_001267550.2(TTN):c.103062A>C (p.Pro34354=)
|
rs1559027075
|
|
|
NM_001267550.2(TTN):c.103066C>T (p.Pro34356Ser)
|
|
|
|
NM_001267550.2(TTN):c.103072G>T (p.Asp34358Tyr)
|
rs1690109376
|
|
|
NM_001267550.2(TTN):c.103073_103076dup (p.Ser34359delinsArgTer)
|
rs2154135223
|
|
|
NM_001267550.2(TTN):c.103076G>C (p.Ser34359Thr)
|
|
|
|
NM_001267550.2(TTN):c.103084A>G (p.Arg34362Gly)
|
|
|
|
NM_001267550.2(TTN):c.103091T>C (p.Met34364Thr)
|
rs1057273567
|
|
|
NM_001267550.2(TTN):c.103113T>C (p.Asn34371=)
|
rs886042668
|
|
|
NM_001267550.2(TTN):c.103122C>T (p.Cys34374=)
|
rs878915763
|
|
|
NM_001267550.2(TTN):c.103126G>A (p.Glu34376Lys)
|
|
|
|
NM_001267550.2(TTN):c.103133A>C (p.Gln34378Pro)
|
rs779618819
|
|
|
NM_001267550.2(TTN):c.103137T>A (p.Ser34379Arg)
|
|
|
|
NM_001267550.2(TTN):c.103138G>C (p.Val34380Leu)
|
|
|
|
NM_001267550.2(TTN):c.103145T>C (p.Phe34382Ser)
|
rs2154135165
|
|
|
NM_001267550.2(TTN):c.103151T>A (p.Ile34384Asn)
|
|
|
|
NM_001267550.2(TTN):c.103155_103156del (p.Arg34385fs)
|
rs1575265345
|
|
|
NM_001267550.2(TTN):c.103156G>A (p.Val34386Met)
|
|
|
|
NM_001267550.2(TTN):c.103156G>C (p.Val34386Leu)
|
|
|
|
NM_001267550.2(TTN):c.103159T>C (p.Ser34387Pro)
|
|
|
|
NM_001267550.2(TTN):c.103166T>A (p.Ile34389Asn)
|
rs1575265105
|
|
|
NM_001267550.2(TTN):c.103172C>A (p.Pro34391Gln)
|
rs775343253
|
|
|
NM_001267550.2(TTN):c.103172C>T (p.Pro34391Leu)
|
|
|
|
NM_001267550.2(TTN):c.103172dup (p.Pro34392fs)
|
|
|
|
NM_001267550.2(TTN):c.103173A>C (p.Pro34391=)
|
|
|
|
NM_001267550.2(TTN):c.103176A>G (p.Pro34392=)
|
|
|
|
NM_001267550.2(TTN):c.103183A>C (p.Lys34395Gln)
|
rs368320079
|
|
|
NM_001267550.2(TTN):c.103189del (p.Glu34397fs)
|
rs2154135131
|
|
|
NM_001267550.2(TTN):c.103191G>A (p.Glu34397=)
|
rs2154135124
|
|
|
NM_001267550.2(TTN):c.103204C>T (p.Pro34402Ser)
|
rs1361480669
|
|
|
NM_001267550.2(TTN):c.103206A>C (p.Pro34402=)
|
rs2154135114
|
|
|
NM_001267550.2(TTN):c.103218G>A (p.Gly34406=)
|
rs1301007046
|
|
|
NM_001267550.2(TTN):c.103218G>T (p.Gly34406=)
|
rs1301007046
|
|
|
NM_001267550.2(TTN):c.103220C>A (p.Pro34407His)
|
|
|
|
NM_001267550.2(TTN):c.103226T>C (p.Ile34409Thr)
|
rs879013405
|
|
|
NM_001267550.2(TTN):c.103231A>C (p.Ile34411Leu)
|
|
|
|
NM_001267550.2(TTN):c.103232T>A (p.Ile34411Asn)
|
|
|
|
NM_001267550.2(TTN):c.103239T>C (p.His34413=)
|
rs2154135099
|
|
|
NM_001267550.2(TTN):c.103243G>C (p.Gly34415Arg)
|
rs1170678153
|
|
|
NM_001267550.2(TTN):c.103246T>C (p.Leu34416=)
|
rs1553492053
|
|
|
NM_001267550.2(TTN):c.103251T>C (p.Asp34417=)
|
|
|
|
NM_001267550.2(TTN):c.103254T>C (p.Tyr34418=)
|
rs1575263475
|
|
|
NM_001267550.2(TTN):c.103266C>T (p.His34422=)
|
|
|
|
NM_001267550.2(TTN):c.10326T>C (p.Asn3442=)
|
rs2154336166
|
|
|
NM_001267550.2(TTN):c.103271G>T (p.Arg34424Met)
|
|
|
|
NM_001267550.2(TTN):c.103276A>G (p.Thr34426Ala)
|
|
|
|
NM_001267550.2(TTN):c.103280T>C (p.Leu34427Ser)
|
|
|
|
NM_001267550.2(TTN):c.103292C>G (p.Thr34431Arg)
|
rs192001910
|
|
|
NM_001267550.2(TTN):c.1032T>A (p.Pro344=)
|
|
|
|
NM_001267550.2(TTN):c.103309A>G (p.Thr34437Ala)
|
|
|
|
NM_001267550.2(TTN):c.103314C>T (p.Ala34438=)
|
rs1453210732
|
|
|
NM_001267550.2(TTN):c.103317_103320del (p.Asn34440fs)
|
|
|
|
NM_001267550.2(TTN):c.103335C>T (p.Thr34445=)
|
|
|
|
NM_001267550.2(TTN):c.103336del (p.Ser34446fs)
|
rs1553491793
|
|
|
NM_001267550.2(TTN):c.103340G>A (p.Cys34447Tyr)
|
rs770558110
|
|
|
NM_001267550.2(TTN):c.103351C>G (p.Leu34451Val)
|
rs1559023612
|
|
|
NM_001267550.2(TTN):c.103352T>C (p.Leu34451Pro)
|
rs2154135007
|
|
|
NM_001267550.2(TTN):c.103353A>G (p.Leu34451=)
|
|
|
|
NM_001267550.2(TTN):c.103354C>T (p.Gln34452Ter)
|
|
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
|
NM_001267550.2(TTN):c.103363C>A (p.Arg34455Ser)
|
rs72629785
|
|
|
NM_001267550.2(TTN):c.103365C>T (p.Arg34455=)
|
rs398124462
|
|
|
NM_001267550.2(TTN):c.103368G>A (p.Leu34456=)
|
|
|
|
NM_001267550.2(TTN):c.103370G>A (p.Arg34457Lys)
|
|
|
|
NM_001267550.2(TTN):c.103373A>G (p.Tyr34458Cys)
|
|
|
|
NM_001267550.2(TTN):c.103374C>A (p.Tyr34458Ter)
|
rs1060500505
|
|
|
NM_001267550.2(TTN):c.103376A>C (p.Lys34459Thr)
|
|
|
|
NM_001267550.2(TTN):c.103382A>T (p.Gln34461Leu)
|
|
|
|
NM_001267550.2(TTN):c.103390A>G (p.Lys34464Glu)
|
|
|
|
NM_001267550.2(TTN):c.103404G>A (p.Glu34468=)
|
rs1575260897
|
|
|
NM_001267550.2(TTN):c.103409A>T (p.Glu34470Val)
|
rs1553491559
|
|
|
NM_001267550.2(TTN):c.103411C>A (p.Arg34471=)
|
|
|
|
NM_001267550.2(TTN):c.103416C>T (p.His34472=)
|
|
|
|
NM_001267550.2(TTN):c.10341A>G (p.Gln3447=)
|
|
|
|
NM_001267550.2(TTN):c.103423A>G (p.Lys34475Glu)
|
|
|
|
NM_001267550.2(TTN):c.103436A>G (p.Lys34479Arg)
|
rs747582398
|
|
|
NM_001267550.2(TTN):c.103439C>A (p.Thr34480Asn)
|
|
|
|
NM_001267550.2(TTN):c.103439C>T (p.Thr34480Ile)
|
|
|
|
NM_001267550.2(TTN):c.103441C>T (p.Leu34481Phe)
|
rs1689951104
|
|
|
NM_001267550.2(TTN):c.103445G>T (p.Arg34482Ile)
|
rs1689948996
|
|
|
NM_001267550.2(TTN):c.103449G>C (p.Met34483Ile)
|
rs1470149812
|
|
|
NM_001267550.2(TTN):c.103450G>C (p.Ala34484Pro)
|
rs754949098
|
|
|
NM_001267550.2(TTN):c.103451C>T (p.Ala34484Val)
|
|
|
|
NM_001267550.2(TTN):c.103453G>T (p.Glu34485Ter)
|
rs1575259969
|
|
|
NM_001267550.2(TTN):c.103455A>T (p.Glu34485Asp)
|
rs746863482
|
|
|
NM_001267550.2(TTN):c.103457T>C (p.Ile34486Thr)
|
rs2154134918
|
|
|
NM_001267550.2(TTN):c.103459_103460del (p.Leu34487fs)
|
rs1689940049
|
|
|
NM_001267550.2(TTN):c.103461T>C (p.Leu34487=)
|
|
|
|
NM_001267550.2(TTN):c.103476T>A (p.Ser34492Arg)
|
rs878854283
|
|
|
NM_001267550.2(TTN):c.103477G>A (p.Val34493Ile)
|
rs1166346683
|
|
|
NM_001267550.2(TTN):c.103478T>C (p.Val34493Ala)
|
rs1553491321
|
|
|
NM_001267550.2(TTN):c.103482A>G (p.Pro34494=)
|
rs1689928650
|
|
|
NM_001267550.2(TTN):c.103485G>A (p.Leu34495=)
|
rs2154134888
|
|
|
NM_001267550.2(TTN):c.103489C>T (p.Gln34497Ter)
|
|
|
|
NM_001267550.2(TTN):c.103492G>T (p.Val34498Leu)
|
|
|
|
NM_001267550.2(TTN):c.1034G>A (p.Trp345Ter)
|
rs1574929972
|
|
|
NM_001267550.2(TTN):c.103502A>C (p.Glu34501Ala)
|
rs1369317965
|
|
|
NM_001267550.2(TTN):c.103505C>A (p.Ala34502Asp)
|
|
|
|
NM_001267550.2(TTN):c.103512A>G (p.Arg34504=)
|
rs903354671
|
|
|
NM_001267550.2(TTN):c.103515A>G (p.Glu34505=)
|
|
|
|
NM_001267550.2(TTN):c.103518del (p.Ala34507fs)
|
rs1553491220
|
|
|
NM_001267550.2(TTN):c.103523T>C (p.Val34508Ala)
|
|
|
|
NM_001267550.2(TTN):c.103524C>G (p.Val34508=)
|
rs587780985
|
|
|
NM_001267550.2(TTN):c.103530T>C (p.Tyr34510=)
|
|
|
|
NM_001267550.2(TTN):c.103536G>T (p.Pro34512=)
|
rs772961147
|
|
|
NM_001267550.2(TTN):c.103537G>C (p.Ala34513Pro)
|
|
|
|
NM_001267550.2(TTN):c.103540G>T (p.Val34514Leu)
|
rs769311670
|
|
|
NM_001267550.2(TTN):c.103542A>G (p.Val34514=)
|
|
|
|
NM_001267550.2(TTN):c.103543A>T (p.Ser34515Cys)
|
|
|
|
NM_001267550.2(TTN):c.103545C>T (p.Ser34515=)
|
|
|
|
NM_001267550.2(TTN):c.103549A>C (p.Lys34517Gln)
|
|
|
|
NM_001267550.2(TTN):c.103564G>A (p.Glu34522Lys)
|
rs1689887445
|
|
|
NM_001267550.2(TTN):c.103570A>C (p.Arg34524=)
|
|
|
|
NM_001267550.2(TTN):c.103579A>C (p.Ile34527Leu)
|
rs1689876003
|
|
|
NM_001267550.2(TTN):c.103580_103583dup (p.Glu34528fs)
|
|
|
|
NM_001267550.2(TTN):c.103582G>A (p.Glu34528Lys)
|
rs2154134838
|
|
|
NM_001267550.2(TTN):c.103582G>C (p.Glu34528Gln)
|
|
|
|
NM_001267550.2(TTN):c.103596G>A (p.Glu34532=)
|
rs1689866422
|
|
|
NM_001267550.2(TTN):c.103597G>C (p.Glu34533Gln)
|
|
|
|
NM_001267550.2(TTN):c.103598A>G (p.Glu34533Gly)
|
rs1484143627
|
|
|
NM_001267550.2(TTN):c.10359A>C (p.Ser3453=)
|
rs779573705
|
|
|
NM_001267550.2(TTN):c.103605A>G (p.Lys34535=)
|
|
|
|
NM_001267550.2(TTN):c.103611G>A (p.Arg34537=)
|
|
|
|
NM_001267550.2(TTN):c.103611G>C (p.Arg34537=)
|
|
|
|
NM_001267550.2(TTN):c.103612A>T (p.Met34538Leu)
|
rs376233324
|
|
|
NM_001267550.2(TTN):c.103615C>T (p.Pro34539Ser)
|
|
|
|
NM_001267550.2(TTN):c.103620T>C (p.Tyr34540=)
|
|
|
|
NM_001267550.2(TTN):c.103620T>G (p.Tyr34540Ter)
|
|
|
|
NM_001267550.2(TTN):c.103623T>C (p.Asp34541=)
|
rs1559020199
|
|
|
NM_001267550.2(TTN):c.103623T>G (p.Asp34541Glu)
|
rs1559020199
|
|
|
NM_001267550.2(TTN):c.103628C>T (p.Pro34543Leu)
|
rs1575257488
|
|
|
NM_001267550.2(TTN):c.103629A>G (p.Pro34543=)
|
rs2154134789
|
|
|
NM_001267550.2(TTN):c.103638C>G (p.Arg34546=)
|
rs774562694
|
|
|
NM_001267550.2(TTN):c.103638dup (p.Lys34547fs)
|
|
|
|
NM_001267550.2(TTN):c.103641G>T (p.Lys34547Asn)
|
rs2154134776
|
|
|
NM_001267550.2(TTN):c.103644T>C (p.Tyr34548=)
|
rs2154134774
|
|
|
NM_001267550.2(TTN):c.103644T>G (p.Tyr34548Ter)
|
|
|
|
NM_001267550.2(TTN):c.103648C>G (p.Gln34550Glu)
|
|
|
|
NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del)
|
rs759860918
|
|
|
NM_001267550.2(TTN):c.103662A>C (p.Glu34554Asp)
|
|
|
|
NM_001267550.2(TTN):c.103663G>A (p.Glu34555Lys)
|
|
|
|
NM_001267550.2(TTN):c.103665A>C (p.Glu34555Asp)
|
|
|
|
NM_001267550.2(TTN):c.103671A>G (p.Gln34557=)
|
rs2154134745
|
|
|
NM_001267550.2(TTN):c.103678A>T (p.Lys34560Ter)
|
|
|
|
NM_001267550.2(TTN):c.103686C>T (p.Phe34562=)
|
rs777864853
|
|
|
NM_001267550.2(TTN):c.103689G>A (p.Val34563=)
|
|
|
|
NM_001267550.2(TTN):c.103692C>T (p.Pro34564=)
|
|
|
|
NM_001267550.2(TTN):c.103694T>C (p.Met34565Thr)
|
|
|
|
NM_001267550.2(TTN):c.103696T>A (p.Ser34566Thr)
|
|
|
|
NM_001267550.2(TTN):c.103696T>G (p.Ser34566Ala)
|
rs556060586
|
|
|
NM_001267550.2(TTN):c.103699G>T (p.Asp34567Tyr)
|
|
|
|
NM_001267550.2(TTN):c.103702A>G (p.Met34568Val)
|
|
|
|
NM_001267550.2(TTN):c.103703T>C (p.Met34568Thr)
|
rs1350583693
|
|
|
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter)
|
rs1553490574
|
|
|
NM_001267550.2(TTN):c.103721T>G (p.Ile34574Arg)
|
rs2154134707
|
|
|
NM_001267550.2(TTN):c.103723C>A (p.Arg34575Ser)
|
rs190866742
|
|
|
NM_001267550.2(TTN):c.103725T>C (p.Arg34575=)
|
|
|
|
NM_001267550.2(TTN):c.103726G>C (p.Asp34576His)
|
|
|
|
NM_001267550.2(TTN):c.103726_103727insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGATACGTG (p.Asp34576delinsGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysAspThrTer)
|
|
|
|
NM_001267550.2(TTN):c.103728T>C (p.Asp34576=)
|
rs2154134697
|
|
|
NM_001267550.2(TTN):c.103730A>T (p.Gln34577Leu)
|
|
|
|
NM_001267550.2(TTN):c.103731G>A (p.Gln34577=)
|
|
|
|
NM_001267550.2(TTN):c.103736A>C (p.Glu34579Ala)
|
rs1386348360
|
|
|
NM_001267550.2(TTN):c.103737_103738insCA (p.Met34580fs)
|
rs2154134687
|
|
|
NM_001267550.2(TTN):c.103739T>G (p.Met34580Arg)
|
rs775137392
|
|
|
NM_001267550.2(TTN):c.103742C>G (p.Pro34581Arg)
|
rs1357155692
|
|
|
NM_001267550.2(TTN):c.103749del (p.Lys34583fs)
|
rs1689787372
|
|
|
NM_001267550.2(TTN):c.103750C>T (p.Leu34584Phe)
|
rs1559018367
|
|
|
NM_001267550.2(TTN):c.103756A>C (p.Arg34586=)
|
rs1012679574
|
|
|
NM_001267550.2(TTN):c.103758_103759del (p.Arg34586fs)
|
rs1689777278
|
|
|
NM_001267550.2(TTN):c.103759G>A (p.Val34587Ile)
|
rs1188944324
|
|
|
NM_001267550.2(TTN):c.103761T>C (p.Val34587=)
|
|
|
|
NM_001267550.2(TTN):c.103765C>T (p.Gln34589Ter)
|
rs749082693
|
|
|
NM_001267550.2(TTN):c.103774C>A (p.Pro34592Thr)
|
rs748291093
|
|
|
NM_001267550.2(TTN):c.103774C>T (p.Pro34592Ser)
|
rs748291093
|
|
|
NM_001267550.2(TTN):c.103777A>C (p.Lys34593Gln)
|
rs1689768170
|
|
|
NM_001267550.2(TTN):c.10377G>A (p.Glu3459=)
|
rs1460874530
|
|
|
NM_001267550.2(TTN):c.103785C>A (p.Ile34595=)
|
|
|
|
NM_001267550.2(TTN):c.103788C>A (p.Arg34596=)
|
|
|
|
NM_001267550.2(TTN):c.103796G>C (p.Arg34599Thr)
|
rs1362778188
|
|
|
NM_001267550.2(TTN):c.103801G>A (p.Glu34601Lys)
|
|
|
|
NM_001267550.2(TTN):c.10380C>T (p.Pro3460=)
|
|
|
|
NM_001267550.2(TTN):c.103814dup (p.Met34606fs)
|
|
|
|
NM_001267550.2(TTN):c.103818G>A (p.Met34606Ile)
|
|
|
|
NM_001267550.2(TTN):c.10381dup (p.Leu3461fs)
|
|
|
|
NM_001267550.2(TTN):c.103829G>T (p.Arg34610Leu)
|
|
|
|
NM_001267550.2(TTN):c.103831A>G (p.Ile34611Val)
|
|
|
|
NM_001267550.2(TTN):c.10383T>A (p.Leu3461=)
|
|
|
|
NM_001267550.2(TTN):c.103840C>G (p.Gln34614Glu)
|
rs2154134587
|
|
|
NM_001267550.2(TTN):c.103842A>G (p.Gln34614=)
|
rs2154134584
|
|
|
NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter)
|
rs2154134580
|
|
|
NM_001267550.2(TTN):c.103846_103849dup (p.Pro34617fs)
|
rs2154134575
|
|
|
NM_001267550.2(TTN):c.103865C>T (p.Pro34622Leu)
|
rs762716728
|
|
|
NM_001267550.2(TTN):c.103866T>C (p.Pro34622=)
|
|
|
|
NM_001267550.2(TTN):c.103872G>A (p.Leu34624=)
|
|
|
|
NM_001267550.2(TTN):c.103879G>C (p.Asp34627His)
|
|
|
|
NM_001267550.2(TTN):c.103882G>T (p.Asp34628Tyr)
|
rs1553490035
|
|
|
NM_001267550.2(TTN):c.103888G>A (p.Glu34630Lys)
|
|
|
|
NM_001267550.2(TTN):c.103892T>C (p.Ile34631Thr)
|
rs776709904
|
|
|
NM_001267550.2(TTN):c.103892T>G (p.Ile34631Arg)
|
rs776709904
|
|
|
NM_001267550.2(TTN):c.103897A>G (p.Arg34633Gly)
|
|
|
|
NM_001267550.2(TTN):c.103901C>T (p.Pro34634Leu)
|
|
|
|
NM_001267550.2(TTN):c.103909C>A (p.Arg34637=)
|
rs200716930
|
|
|
NM_001267550.2(TTN):c.103914T>A (p.Arg34638=)
|
rs977041865
|
|
|
NM_001267550.2(TTN):c.103914T>C (p.Arg34638=)
|
rs977041865
|
|
|
NM_001267550.2(TTN):c.103919C>T (p.Pro34640Leu)
|
rs2154134518
|
|
|
NM_001267550.2(TTN):c.10391A>C (p.Lys3464Thr)
|
rs1553970272
|
|
|
NM_001267550.2(TTN):c.103921_103923del (p.Ser34641del)
|
rs774574734
|
|
|
NM_001267550.2(TTN):c.10392G>A (p.Lys3464=)
|
|
|
|
NM_001267550.2(TTN):c.103931A>C (p.Tyr34644Ser)
|
|
|
|
NM_001267550.2(TTN):c.103933G>A (p.Asp34645Asn)
|
|
|
|
NM_001267550.2(TTN):c.103936T>C (p.Phe34646Leu)
|
|
|
|
NM_001267550.2(TTN):c.103938T>C (p.Phe34646=)
|
rs971440079
|
|
|
NM_001267550.2(TTN):c.103938_103939del (p.Phe34646fs)
|
rs1689704657
|
|
|
NM_001267550.2(TTN):c.103941C>T (p.Tyr34647=)
|
rs991604284
|
|
|
NM_001267550.2(TTN):c.103943del (p.Tyr34648fs)
|
rs1689700102
|
|
|
NM_001267550.2(TTN):c.103948C>A (p.Pro34650Thr)
|
rs879134298
|
|
|
NM_001267550.2(TTN):c.103956A>G (p.Arg34652=)
|
|
|
|
NM_001267550.2(TTN):c.103957C>A (p.Arg34653Ser)
|
rs773002407
|
|
|
NM_001267550.2(TTN):c.103958G>T (p.Arg34653Leu)
|
rs72629786
|
|
|
NM_001267550.2(TTN):c.103959T>G (p.Arg34653=)
|
|
|
|
NM_001267550.2(TTN):c.10395del (p.Ser3466fs)
|
rs2087781053
|
|
|
NM_001267550.2(TTN):c.103961C>T (p.Ser34654Phe)
|
rs1689685184
|
|
|
NM_001267550.2(TTN):c.103963C>T (p.Leu34655Phe)
|
|
|
|
NM_001267550.2(TTN):c.103964T>C (p.Leu34655Pro)
|
|
|
|
NM_001267550.2(TTN):c.103968G>A (p.Gly34656=)
|
|
|
|
NM_001267550.2(TTN):c.103973T>C (p.Ile34658Thr)
|
rs1689681272
|
|
|
NM_001267550.2(TTN):c.103980T>C (p.Asp34660=)
|
rs1180954386
|
|
|
NM_001267550.2(TTN):c.103998C>T (p.Pro34666=)
|
rs1689668746
|
|
|
NM_001267550.2(TTN):c.103999A>G (p.Ile34667Val)
|
rs749651526
|
|
|
NM_001267550.2(TTN):c.1039C>T (p.Gln347Ter)
|
rs1561470471
|
|
|
NM_001267550.2(TTN):c.104004T>C (p.Asp34668=)
|
rs2154134447
|
|
|
NM_001267550.2(TTN):c.104006A>C (p.Asp34669Ala)
|
|
|
|
NM_001267550.2(TTN):c.104012T>G (p.Leu34671Ter)
|
|
|
|
NM_001267550.2(TTN):c.104024G>A (p.Arg34675Lys)
|
rs765125364
|
|
|
NM_001267550.2(TTN):c.104024G>C (p.Arg34675Thr)
|
|
|
|
NM_001267550.2(TTN):c.104031G>C (p.Glu34677Asp)
|
rs2154134425
|
|
|
NM_001267550.2(TTN):c.104039G>A (p.Arg34680Lys)
|
rs753652745
|
|
|
NM_001267550.2(TTN):c.104040G>C (p.Arg34680Ser)
|
|
|
|
NM_001267550.2(TTN):c.104049T>C (p.Leu34683=)
|
rs1553489508
|
|
|
NM_001267550.2(TTN):c.104052AGA[1] (p.Glu34686del)
|
rs1689633500
|
|
|
NM_001267550.2(TTN):c.104059C>A (p.Leu34687Ile)
|
rs1575250160
|
|
|
NM_001267550.2(TTN):c.104060T>G (p.Leu34687Arg)
|
rs2154134402
|
|
|
NM_001267550.2(TTN):c.104063A>G (p.Glu34688Gly)
|
|
|
|
NM_001267550.2(TTN):c.104064G>A (p.Glu34688=)
|
|
|
|
NM_001267550.2(TTN):c.104069G>T (p.Gly34690Val)
|
rs964554853
|
|
|
NM_001267550.2(TTN):c.104069del (p.Gly34690fs)
|
rs2154134397
|
|
|
NM_001267550.2(TTN):c.10407G>A (p.Gln3469=)
|
|
|
|
NM_001267550.2(TTN):c.104080T>C (p.Ser34694Pro)
|
rs768203673
|
|
|
NM_001267550.2(TTN):c.104080T>G (p.Ser34694Ala)
|
rs768203673
|
|
|
NM_001267550.2(TTN):c.104081C>G (p.Ser34694Ter)
|
rs886043279
|
|
|
NM_001267550.2(TTN):c.104090G>C (p.Ser34697Thr)
|
|
|
|
NM_001267550.2(TTN):c.104094A>C (p.Arg34698=)
|
rs2154134365
|
|
|
NM_001267550.2(TTN):c.104098C>A (p.Pro34700Thr)
|
rs778877604
|
|
|
NM_001267550.2(TTN):c.104098C>T (p.Pro34700Ser)
|
rs778877604
|
|
|
NM_001267550.2(TTN):c.104099C>G (p.Pro34700Arg)
|
|
|
|
NM_001267550.2(TTN):c.104104C>G (p.His34702Asp)
|
|
|
|
NM_001267550.2(TTN):c.104109T>C (p.Phe34703=)
|
|
|
|
NM_001267550.2(TTN):c.104113C>A (p.Leu34705Ile)
|
|
|
|
NM_001267550.2(TTN):c.104113C>T (p.Leu34705Phe)
|
|
|
|
NM_001267550.2(TTN):c.104119A>G (p.Ser34707Gly)
|
|
|
|
NM_001267550.2(TTN):c.10411C>T (p.Leu3471=)
|
|
|
|
NM_001267550.2(TTN):c.104128T>C (p.Tyr34710His)
|
|
|
|
NM_001267550.2(TTN):c.104144C>T (p.Ala34715Val)
|
|
|
|
NM_001267550.2(TTN):c.104147A>G (p.His34716Arg)
|
|
|
|
NM_001267550.2(TTN):c.104148T>C (p.His34716=)
|
rs771573294
|
|
|
NM_001267550.2(TTN):c.104155G>A (p.Val34719Met)
|
|
|
|
NM_001267550.2(TTN):c.104159A>T (p.Glu34720Val)
|
|
|
|
NM_001267550.2(TTN):c.10415C>G (p.Ser3472Ter)
|
|
|
|
NM_001267550.2(TTN):c.104160G>A (p.Glu34720=)
|
|
|
|
NM_001267550.2(TTN):c.104161G>A (p.Glu34721Lys)
|
rs1689557329
|
|
|
NM_001267550.2(TTN):c.104162A>C (p.Glu34721Ala)
|
|
|
|
NM_001267550.2(TTN):c.10416A>G (p.Ser3472=)
|
|
|
|
NM_001267550.2(TTN):c.104170_104174del (p.Lys34724fs)
|
rs2154134297
|
|
|
NM_001267550.2(TTN):c.104171_104172del (p.Lys34724fs)
|
rs2154134302
|
|
|
NM_001267550.2(TTN):c.104172A>G (p.Lys34724=)
|
|
|
|
NM_001267550.2(TTN):c.104174A>C (p.Asp34725Ala)
|
rs771698375
|
|
|
NM_001267550.2(TTN):c.104174A>G (p.Asp34725Gly)
|
|
|
|
NM_001267550.2(TTN):c.104181G>T (p.Arg34727Ser)
|
|
|
|
NM_001267550.2(TTN):c.104188A>G (p.Thr34730Ala)
|
rs949998241
|
|
|
NM_001267550.2(TTN):c.104199C>T (p.Ile34733=)
|
|
|
|
NM_001267550.2(TTN):c.1041A>G (p.Gln347=)
|
|
|
|
NM_001267550.2(TTN):c.104200C>T (p.Pro34734Ser)
|
|
|
|
NM_001267550.2(TTN):c.104203A>G (p.Thr34735Ala)
|
rs1451123812
|
|
|
NM_001267550.2(TTN):c.104204C>G (p.Thr34735Arg)
|
rs755986938
|
|
|
NM_001267550.2(TTN):c.104209G>A (p.Ala34737Thr)
|
|
|
|
NM_001267550.2(TTN):c.104215G>C (p.Ala34739Pro)
|
rs796476794
|
|
|
NM_001267550.2(TTN):c.104216C>G (p.Ala34739Gly)
|
|
|
|
NM_001267550.2(TTN):c.104220T>C (p.Ser34740=)
|
|
|
|
NM_001267550.2(TTN):c.104221A>G (p.Thr34741Ala)
|
rs2154134261
|
|
|
NM_001267550.2(TTN):c.104225G>A (p.Ser34742Asn)
|
rs765636638
|
|
|
NM_001267550.2(TTN):c.104225G>T (p.Ser34742Ile)
|
|
|
|
NM_001267550.2(TTN):c.10422C>T (p.Leu3474=)
|
|
|
|
NM_001267550.2(TTN):c.104236C>T (p.Leu34746=)
|
rs776974076
|
|
|
NM_001267550.2(TTN):c.104237_104245del (p.Leu34746_Glu34748del)
|
rs1689509779
|
|
|
NM_001267550.2(TTN):c.104238G>A (p.Leu34746=)
|
|
|
|
NM_001267550.2(TTN):c.104238G>C (p.Leu34746=)
|
|
|
|
NM_001267550.2(TTN):c.104242G>T (p.Glu34748Ter)
|
|
|
|
NM_001267550.2(TTN):c.104258C>T (p.Ala34753Val)
|
rs770515852
|
|
|
NM_001267550.2(TTN):c.104259T>C (p.Ala34753=)
|
|
|
|
NM_001267550.2(TTN):c.104263T>A (p.Tyr34755Asn)
|
rs1553488819
|
|
|
NM_001267550.2(TTN):c.104265C>T (p.Tyr34755=)
|
rs756003817
|
|
|
NM_001267550.2(TTN):c.104266A>T (p.Arg34756Ter)
|
|
|
|
NM_001267550.2(TTN):c.104269C>T (p.Gln34757Ter)
|
rs2154134221
|
|
|
NM_001267550.2(TTN):c.104290A>G (p.Ile34764Val)
|
|
|
|
NM_001267550.2(TTN):c.104292C>A (p.Ile34764=)
|
|
|
|
NM_001267550.2(TTN):c.104294T>C (p.Met34765Thr)
|
|
|
|
NM_001267550.2(TTN):c.104302_104303del (p.Arg34768fs)
|
|
|
|
NM_001267550.2(TTN):c.104304G>A (p.Arg34768=)
|
|
|
|
NM_001267550.2(TTN):c.104306A>T (p.Glu34769Val)
|
rs2154134195
|
|
|
NM_001267550.2(TTN):c.104307G>A (p.Glu34769=)
|
|
|
|
NM_001267550.2(TTN):c.104310T>C (p.Asp34770=)
|
rs2154134193
|
|
|
NM_001267550.2(TTN):c.104311G>A (p.Glu34771Lys)
|
rs2154134190
|
|
|
NM_001267550.2(TTN):c.104313A>G (p.Glu34771=)
|
|
|
|
NM_001267550.2(TTN):c.104318T>C (p.Leu34773Ser)
|
|
|
|
NM_001267550.2(TTN):c.104323C>T (p.Arg34775Cys)
|
|
|
|
NM_001267550.2(TTN):c.104327C>T (p.Pro34776Leu)
|
|
|
|
NM_001267550.2(TTN):c.104332A>G (p.Thr34778Ala)
|
rs765838260
|
|
|
NM_001267550.2(TTN):c.104340C>T (p.Thr34780=)
|
rs760997004
|
|
|
NM_001267550.2(TTN):c.104343G>C (p.Gln34781His)
|
|
|
|
NM_001267550.2(TTN):c.104357A>G (p.Tyr34786Cys)
|
rs1689457386
|
|
|
NM_001267550.2(TTN):c.104365G>C (p.Glu34789Gln)
|
rs190565627
|
|
|
NM_001267550.2(TTN):c.104369T>C (p.Leu34790Pro)
|
|
|
|
NM_001267550.2(TTN):c.104381C>T (p.Ser34794Leu)
|
rs1302011604
|
|
|
NM_001267550.2(TTN):c.104382A>G (p.Ser34794=)
|
|
|
|
NM_001267550.2(TTN):c.104390A>C (p.Glu34797Ala)
|
|
|
|
NM_001267550.2(TTN):c.104405A>T (p.Lys34802Ile)
|
rs1689437836
|
|
|
NM_001267550.2(TTN):c.104412G>A (p.Arg34804=)
|
|
|
|
NM_001267550.2(TTN):c.104413C>A (p.Arg34805=)
|
|
|
|
NM_001267550.2(TTN):c.104413C>G (p.Arg34805Gly)
|
|
|
|
NM_001267550.2(TTN):c.104414G>C (p.Arg34805Pro)
|
rs115150240
|
|
|
NM_001267550.2(TTN):c.104415A>T (p.Arg34805=)
|
|
|
|
NM_001267550.2(TTN):c.104417A>C (p.Gln34806Pro)
|
|
|
|
NM_001267550.2(TTN):c.104420G>A (p.Arg34807Lys)
|
rs973111888
|
|
|
NM_001267550.2(TTN):c.104421A>C (p.Arg34807Ser)
|
rs2154134105
|
|
|
NM_001267550.2(TTN):c.104421_104425del (p.Arg34807fs)
|
rs1689427568
|
|
|
NM_001267550.2(TTN):c.104422G>A (p.Glu34808Lys)
|
|
|
|
NM_001267550.2(TTN):c.104434A>G (p.Ile34812Val)
|
rs1245438198
|
|
|
NM_001267550.2(TTN):c.104438C>A (p.Thr34813Lys)
|
|
|
|
NM_001267550.2(TTN):c.104447A>G (p.Glu34816Gly)
|
|
|
|
NM_001267550.2(TTN):c.104448_104450dup (p.Glu34818_Tyr34819insGlu)
|
|
|
|
NM_001267550.2(TTN):c.104449G>A (p.Glu34817Lys)
|
rs1553488312
|
|
|
NM_001267550.2(TTN):c.104449GAA[1] (p.Glu34818del)
|
rs780929362
|
|
|
NM_001267550.2(TTN):c.10444G>A (p.Val3482Ile)
|
rs1553970119
|
|
|
NM_001267550.2(TTN):c.104450A>G (p.Glu34817Gly)
|
|
|
|
NM_001267550.2(TTN):c.104455T>C (p.Tyr34819His)
|
rs1553488294
|
|
|
NM_001267550.2(TTN):c.104466A>G (p.Ser34822=)
|
|
|
|
NM_001267550.2(TTN):c.104474C>G (p.Ala34825Gly)
|
rs766157074
|
|
|
NM_001267550.2(TTN):c.104477A>G (p.Gln34826Arg)
|
rs2154134073
|
|
|
NM_001267550.2(TTN):c.104483A>G (p.Glu34828Gly)
|
rs975412383
|
|
|
NM_001267550.2(TTN):c.104484_104487dup (p.Ser34830fs)
|
|
|
|
NM_001267550.2(TTN):c.104498C>G (p.Ala34833Gly)
|
|
|
|
NM_001267550.2(TTN):c.104498C>T (p.Ala34833Val)
|
rs1164350939
|
|
|
NM_001267550.2(TTN):c.1044G>A (p.Glu348=)
|
|
|
|
NM_001267550.2(TTN):c.104501C>G (p.Ser34834Cys)
|
|
|
|
NM_001267550.2(TTN):c.104503A>G (p.Arg34835Gly)
|
rs938452034
|
|
|
NM_001267550.2(TTN):c.104504G>C (p.Arg34835Thr)
|
rs2154134050
|
|
|
NM_001267550.2(TTN):c.104509C>G (p.Leu34837Val)
|
|
|
|
NM_001267550.2(TTN):c.104509_104510del (p.Leu34837fs)
|
|
|
|
NM_001267550.2(TTN):c.104512A>C (p.Arg34838=)
|
|
|
|
NM_001267550.2(TTN):c.104513G>A (p.Arg34838Lys)
|
|
|
|
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter)
|
rs1553488049
|
|
|
NM_001267550.2(TTN):c.104520G>A (p.Arg34840=)
|
|
|
|
NM_001267550.2(TTN):c.104520G>C (p.Arg34840=)
|
|
|
|
NM_001267550.2(TTN):c.104523C>T (p.Arg34841=)
|
|
|
|
NM_001267550.2(TTN):c.104527C>T (p.Leu34843=)
|
rs945747944
|
|
|
NM_001267550.2(TTN):c.104529G>A (p.Leu34843=)
|
|
|
|
NM_001267550.2(TTN):c.104529G>T (p.Leu34843=)
|
rs1362931621
|
|
|
NM_001267550.2(TTN):c.104531C>T (p.Ser34844Phe)
|
|
|
|
NM_001267550.2(TTN):c.104535A>G (p.Pro34845=)
|
|
|
|
NM_001267550.2(TTN):c.104545G>A (p.Glu34849Lys)
|
|
|
|
NM_001267550.2(TTN):c.104546A>C (p.Glu34849Ala)
|
rs1553487855
|
|
|
NM_001267550.2(TTN):c.104550A>G (p.Leu34850=)
|
rs2154134009
|
|
|
NM_001267550.2(TTN):c.10455T>C (p.His3485=)
|
rs2087756241
|
|
|
NM_001267550.2(TTN):c.104569C>T (p.Leu34857=)
|
|
|
|
NM_001267550.2(TTN):c.104580A>G (p.Ser34860=)
|
|
|
|
NM_001267550.2(TTN):c.104583T>C (p.Arg34861=)
|
|
|
|
NM_001267550.2(TTN):c.104584C>T (p.Pro34862Ser)
|
rs2154133959
|
|
|
NM_001267550.2(TTN):c.104592G>T (p.Pro34864=)
|
rs144094650
|
|
|
NM_001267550.2(TTN):c.104595T>C (p.Ala34865=)
|
|
|
|
NM_001267550.2(TTN):c.104599G>A (p.Glu34867Lys)
|
rs1689335929
|
|
|
NM_001267550.2(TTN):c.104609del (p.Asp34870fs)
|
|
|
|
NM_001267550.2(TTN):c.10461G>A (p.Arg3487=)
|
rs1449517557
|
|
|
NM_001267550.2(TTN):c.104623A>G (p.Arg34875Gly)
|
rs377594642
|
|
|
NM_001267550.2(TTN):c.104624G>A (p.Arg34875Lys)
|
|
|
|
NM_001267550.2(TTN):c.104625G>A (p.Arg34875=)
|
rs2154133933
|
|
|
NM_001267550.2(TTN):c.104638G>A (p.Glu34880Lys)
|
rs1404462483
|
|
|
NM_001267550.2(TTN):c.104638G>C (p.Glu34880Gln)
|
rs1404462483
|
|
|
NM_001267550.2(TTN):c.104647C>T (p.Arg34883Cys)
|
rs1003158162
|
|
|
NM_001267550.2(TTN):c.10464T>C (p.Val3488=)
|
|
|
|
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter)
|
rs1057518003
|
|
|
NM_001267550.2(TTN):c.104657C>T (p.Ser34886Phe)
|
|
|
|
NM_001267550.2(TTN):c.104659C>T (p.Pro34887Ser)
|
rs1689308742
|
|
|
NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu)
|
rs774131659
|
|
|
NM_001267550.2(TTN):c.104664C>G (p.Ser34888Arg)
|
rs1365150853
|
|
|
NM_001267550.2(TTN):c.104664C>T (p.Ser34888=)
|
|
|
|
NM_001267550.2(TTN):c.104666_104667del (p.Pro34889fs)
|
rs1689304332
|
|
|
NM_001267550.2(TTN):c.104668G>C (p.Val34890Leu)
|
|
|
|
NM_001267550.2(TTN):c.104668dup (p.Val34890fs)
|
rs2154133906
|
|
|
NM_001267550.2(TTN):c.104671T>A (p.Ser34891Thr)
|
|
|
|
NM_001267550.2(TTN):c.104675G>A (p.Ser34892Asn)
|
|
|
|
NM_001267550.2(TTN):c.104680A>G (p.Arg34894Gly)
|
|
|
|
NM_001267550.2(TTN):c.104693G>C (p.Arg34898Thr)
|
|
|
|
NM_001267550.2(TTN):c.104699A>T (p.Glu34900Val)
|
|
|
|
NM_001267550.2(TTN):c.104702G>A (p.Arg34901Lys)
|
rs1689282112
|
|
|
NM_001267550.2(TTN):c.104706T>G (p.Ser34902=)
|
|
|
|
NM_001267550.2(TTN):c.104711G>T (p.Arg34904Ile)
|
rs780506196
|
|
|
NM_001267550.2(TTN):c.104712A>T (p.Arg34904Ser)
|
|
|
|
NM_001267550.2(TTN):c.104713T>C (p.Phe34905Leu)
|
rs2154133865
|
|
|
NM_001267550.2(TTN):c.104717A>G (p.Asp34906Gly)
|
|
|
|
NM_001267550.2(TTN):c.104717A>T (p.Asp34906Val)
|
|
|
|
NM_001267550.2(TTN):c.104720T>C (p.Ile34907Thr)
|
|
|
|
NM_001267550.2(TTN):c.104726C>T (p.Ser34909Phe)
|
rs755637336
|
|
|
NM_001267550.2(TTN):c.104731T>C (p.Tyr34911His)
|
|
|
|
NM_001267550.2(TTN):c.104738C>T (p.Ser34913Phe)
|
rs2154133838
|
|
|
NM_001267550.2(TTN):c.104746G>A (p.Ala34916Thr)
|
|
|
|
NM_001267550.2(TTN):c.104747C>T (p.Ala34916Val)
|
|
|
|
NM_001267550.2(TTN):c.104751T>C (p.Ala34917=)
|
|
|
|
NM_001267550.2(TTN):c.104751T>G (p.Ala34917=)
|
rs2154133829
|
|
|
NM_001267550.2(TTN):c.104758A>C (p.Thr34920Pro)
|
|
|
|
NM_001267550.2(TTN):c.104767A>T (p.Thr34923Ser)
|
rs1689239806
|
|
|
NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter)
|
rs1559003939
|
|
|
NM_001267550.2(TTN):c.104772A>T (p.Ser34924=)
|
|
|
|
NM_001267550.2(TTN):c.104776A>T (p.Arg34926Trp)
|
|
|
|
NM_001267550.2(TTN):c.104779A>T (p.Lys34927Ter)
|
|
|
|
NM_001267550.2(TTN):c.104783A>G (p.Tyr34928Cys)
|
rs1470980085
|
|
|
NM_001267550.2(TTN):c.104784T>C (p.Tyr34928=)
|
rs769054122
|
|
|
NM_001267550.2(TTN):c.104791T>C (p.Leu34931=)
|
|
|
|
NM_001267550.2(TTN):c.104792T>G (p.Leu34931Trp)
|
|
|
|
NM_001267550.2(TTN):c.104794A>G (p.Ser34932Gly)
|
|
|
|
NM_001267550.2(TTN):c.104796T>G (p.Ser34932Arg)
|
rs794729566
|
|
|
NM_001267550.2(TTN):c.10479G>A (p.Lys3493=)
|
rs2154336050
|
|
|
NM_001267550.2(TTN):c.104800C>A (p.Gln34934Lys)
|
|
|
|
NM_001267550.2(TTN):c.104804C>T (p.Pro34935Leu)
|
|
|
|
NM_001267550.2(TTN):c.104811A>C (p.Thr34937=)
|
|
|
|
NM_001267550.2(TTN):c.104815G>C (p.Asp34939His)
|
rs752164427
|
|
|
NM_001267550.2(TTN):c.104820T>C (p.His34940=)
|
|
|
|
NM_001267550.2(TTN):c.104830A>G (p.Ile34944Val)
|
|
|
|
NM_001267550.2(TTN):c.104837T>A (p.Leu34946Gln)
|
|
|
|
NM_001267550.2(TTN):c.104837T>G (p.Leu34946Arg)
|
rs1185207035
|
|
|
NM_001267550.2(TTN):c.104846G>A (p.Arg34949His)
|
|
|
|
NM_001267550.2(TTN):c.104854A>G (p.Arg34952Gly)
|
|
|
|
NM_001267550.2(TTN):c.104856G>A (p.Arg34952=)
|
|
|
|
NM_001267550.2(TTN):c.104857G>A (p.Val34953Ile)
|
rs776593972
|
|
|
NM_001267550.2(TTN):c.104857G>T (p.Val34953Leu)
|
|
|
|
NM_001267550.2(TTN):c.104860C>T (p.Pro34954Ser)
|
|
|
|
NM_001267550.2(TTN):c.104861C>T (p.Pro34954Leu)
|
rs1689198573
|
|
|
NM_001267550.2(TTN):c.104861_104876del (p.Pro34954fs)
|
rs1402952523
|
|
|
NM_001267550.2(TTN):c.104863T>G (p.Cys34955Gly)
|
|
|
|
NM_001267550.2(TTN):c.104865T>G (p.Cys34955Trp)
|
|
|
|
NM_001267550.2(TTN):c.104868C>A (p.Gly34956=)
|
|
|
|
NM_001267550.2(TTN):c.104876C>A (p.Thr34959Lys)
|
|
|
|
NM_001267550.2(TTN):c.104883T>G (p.Phe34961Leu)
|
rs934181908
|
|
|
NM_001267550.2(TTN):c.104888T>C (p.Leu34963Ser)
|
|
|
|
NM_001267550.2(TTN):c.104893G>A (p.Val34965Ile)
|
|
|
|
NM_001267550.2(TTN):c.104904G>C (p.Lys34968Asn)
|
rs1274496471
|
|
|
NM_001267550.2(TTN):c.104906C>G (p.Pro34969Arg)
|
rs2154133728
|
|
|
NM_001267550.2(TTN):c.104910T>C (p.Thr34970=)
|
|
|
|
NM_001267550.2(TTN):c.104916G>A (p.Glu34972=)
|
|
|
|
NM_001267550.2(TTN):c.104922A>C (p.Lys34974Asn)
|
|
|
|
NM_001267550.2(TTN):c.104923T>C (p.Trp34975Arg)
|
|
|
|
NM_001267550.2(TTN):c.104929_104931del (p.His34977del)
|
rs1689167981
|
|
|
NM_001267550.2(TTN):c.104932A>G (p.Asn34978Asp)
|
|
|
|
NM_001267550.2(TTN):c.104940G>A (p.Val34980=)
|
|
|
|
NM_001267550.2(TTN):c.104945T>C (p.Leu34982Pro)
|
|
|
|
NM_001267550.2(TTN):c.104949A>C (p.Gln34983His)
|
|
|
|
NM_001267550.2(TTN):c.104949A>G (p.Gln34983=)
|
rs2154133702
|
|
|
NM_001267550.2(TTN):c.104953del (p.Ser34985fs)
|
rs2154133695
|
|
|
NM_001267550.2(TTN):c.104954G>A (p.Ser34985Asn)
|
rs1689156700
|
|
|
NM_001267550.2(TTN):c.104966A>G (p.His34989Arg)
|
|
|
|
NM_001267550.2(TTN):c.104968T>C (p.Tyr34990His)
|
|
|
|
NM_001267550.2(TTN):c.104971A>G (p.Thr34991Ala)
|
rs764200285
|
|
|
NM_001267550.2(TTN):c.104972C>T (p.Thr34991Ile)
|
|
|
|
NM_001267550.2(TTN):c.104979G>C (p.Thr34993=)
|
|
|
|
NM_001267550.2(TTN):c.104985A>G (p.Gly34995=)
|
rs397517793
|
|
|
NM_001267550.2(TTN):c.104986G>A (p.Val34996Ile)
|
|
|
|
NM_001267550.2(TTN):c.104987T>C (p.Val34996Ala)
|
rs2154133672
|
|
|
NM_001267550.2(TTN):c.104993C>T (p.Thr34998Ile)
|
rs397517794
|
|
|
NM_001267550.2(TTN):c.104995C>T (p.Leu34999=)
|
rs727503532
|
|
|
NM_001267550.2(TTN):c.105000A>T (p.Glu35000Asp)
|
rs866303280
|
|
|
NM_001267550.2(TTN):c.105017C>T (p.Thr35006Ile)
|
rs2154133648
|
|
|
NM_001267550.2(TTN):c.10503C>T (p.Asn3501=)
|
|
|
|
NM_001267550.2(TTN):c.105042T>C (p.Ala35014=)
|
rs1575233628
|
|
|
NM_001267550.2(TTN):c.105045G>A (p.Val35015=)
|
rs1469317465
|
|
|
NM_001267550.2(TTN):c.10504C>T (p.Gln3502Ter)
|
rs1411783753
|
|
|
NM_001267550.2(TTN):c.105063C>T (p.Gly35021=)
|
|
|
|
NM_001267550.2(TTN):c.105074A>C (p.Asp35025Ala)
|
|
|
|
NM_001267550.2(TTN):c.105075C>T (p.Asp35025=)
|
|
|
|
NM_001267550.2(TTN):c.105077A>G (p.Tyr35026Cys)
|
|
|
|
NM_001267550.2(TTN):c.105078T>C (p.Tyr35026=)
|
|
|
|
NM_001267550.2(TTN):c.105088G>A (p.Asp35030Asn)
|
|
|
|
NM_001267550.2(TTN):c.105091G>C (p.Val35031Leu)
|
|
|
|
NM_001267550.2(TTN):c.105103G>T (p.Asp35035Tyr)
|
rs794729567
|
|
|
NM_001267550.2(TTN):c.105111C>T (p.Thr35037=)
|
|
|
|
NM_001267550.2(TTN):c.105113C>T (p.Thr35038Ile)
|
|
|
|
NM_001267550.2(TTN):c.105130A>G (p.Arg35044Gly)
|
|
|
|
NM_001267550.2(TTN):c.105133G>C (p.Asp35045His)
|
|
|
|
NM_001267550.2(TTN):c.105138_105164del (p.Glu35047_Glu35055del)
|
|
|
|
NM_001267550.2(TTN):c.105142G>A (p.Val35048Ile)
|
rs1689087953
|
|
|
NM_001267550.2(TTN):c.105145C>A (p.Pro35049Thr)
|
rs2154133549
|
|
|
NM_001267550.2(TTN):c.105151T>G (p.Ser35051Ala)
|
|
|
|
NM_001267550.2(TTN):c.105152C>T (p.Ser35051Phe)
|
|
|
|
NM_001267550.2(TTN):c.105154G>C (p.Val35052Leu)
|
rs751583336
|
|
|
NM_001267550.2(TTN):c.10515T>C (p.Ile3505=)
|
|
|
|
NM_001267550.2(TTN):c.105161del (p.Pro35054fs)
|
|
|
|
NM_001267550.2(TTN):c.105166C>G (p.Leu35056Val)
|
|
|
|
NM_001267550.2(TTN):c.105166C>T (p.Leu35056=)
|
|
|
|
NM_001267550.2(TTN):c.105174A>T (p.Arg35058Ser)
|
|
|
|
NM_001267550.2(TTN):c.105180G>T (p.Glu35060Asp)
|
rs56308529
|
|
|
NM_001267550.2(TTN):c.105180_105181delinsCA (p.Glu35060_Ala35061delinsAspThr)
|
rs1689075044
|
|
|
NM_001267550.2(TTN):c.105182C>A (p.Ala35061Glu)
|
rs762136167
|
|
|
NM_001267550.2(TTN):c.105185A>C (p.Tyr35062Ser)
|
rs1689071281
|
|
|
NM_001267550.2(TTN):c.105187G>A (p.Ala35063Thr)
|
rs1558998039
|
|
|
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs)
|
rs770878165
|
|
|
NM_001267550.2(TTN):c.105195A>C (p.Ser35065=)
|
|
|
|
NM_001267550.2(TTN):c.105197C>T (p.Ser35066Leu)
|
rs1346086554
|
|
|
NM_001267550.2(TTN):c.105200T>C (p.Phe35067Ser)
|
|
|
|
NM_001267550.2(TTN):c.105203A>T (p.Lys35068Met)
|
|
|
|
NM_001267550.2(TTN):c.105204G>A (p.Lys35068=)
|
|
|
|
NM_001267550.2(TTN):c.105207A>G (p.Lys35069=)
|
|
|
|
NM_001267550.2(TTN):c.105209C>T (p.Thr35070Ile)
|
|
|
|
NM_001267550.2(TTN):c.105210A>G (p.Thr35070=)
|
rs1553486016
|
|
|
NM_001267550.2(TTN):c.105214G>C (p.Glu35072Gln)
|
rs2154133487
|
|
|
NM_001267550.2(TTN):c.105220G>C (p.Glu35074Gln)
|
|
|
|
NM_001267550.2(TTN):c.105224C>T (p.Ala35075Val)
|
|
|
|
NM_001267550.2(TTN):c.105225T>G (p.Ala35075=)
|
rs769757318
|
|
|
NM_001267550.2(TTN):c.105234T>G (p.Ser35078=)
|
rs766500032
|
|
|
NM_001267550.2(TTN):c.105235G>A (p.Val35079Ile)
|
rs751678775
|
|
|
NM_001267550.2(TTN):c.105241G>C (p.Glu35081Gln)
|
|
|
|
NM_001267550.2(TTN):c.105241del (p.Glu35081fs)
|
|
|
|
NM_001267550.2(TTN):c.10525A>T (p.Lys3509Ter)
|
rs2154336016
|
|
|
NM_001267550.2(TTN):c.105266C>T (p.Thr35089Ile)
|
|
|
|
NM_001267550.2(TTN):c.105275G>A (p.Ser35092Asn)
|
rs1689031111
|
|
|
NM_001267550.2(TTN):c.105285A>T (p.Ser35095=)
|
rs2154133442
|
|
|
NM_001267550.2(TTN):c.105286T>A (p.Tyr35096Asn)
|
|
|
|
NM_001267550.2(TTN):c.105288del (p.Ser35095_Tyr35096insTer)
|
|
|
|
NM_001267550.2(TTN):c.105291A>T (p.Glu35097Asp)
|
|
|
|
NM_001267550.2(TTN):c.105292C>T (p.His35098Tyr)
|
|
|
|
NM_001267550.2(TTN):c.105295T>A (p.Ser35099Thr)
|
rs1311764657
|
|
|
NM_001267550.2(TTN):c.105304G>A (p.Ala35102Thr)
|
rs794729568
|
|
|
NM_001267550.2(TTN):c.105314A>G (p.Lys35105Arg)
|
rs2154133421
|
|
|
NM_001267550.2(TTN):c.105317G>A (p.Ser35106Asn)
|
rs1575229486
|
|
|
NM_001267550.2(TTN):c.105322G>A (p.Ala35108Thr)
|
rs1689011295
|
|
|
NM_001267550.2(TTN):c.105325T>C (p.Leu35109=)
|
|
|
|
NM_001267550.2(TTN):c.105327A>G (p.Leu35109=)
|
|
|
|
NM_001267550.2(TTN):c.105336_105350dup (p.35109LEEKS[3])
|
rs1558996383
|
|
|
NM_001267550.2(TTN):c.105340C>G (p.Leu35114Val)
|
|
|
|
NM_001267550.2(TTN):c.105341T>G (p.Leu35114Arg)
|
|
|
|
NM_001267550.2(TTN):c.105351A>C (p.Lys35117Asn)
|
rs1689002120
|
|
|
NM_001267550.2(TTN):c.105352T>C (p.Ser35118Pro)
|
rs1689001356
|
|
|
NM_001267550.2(TTN):c.105354C>T (p.Ser35118=)
|
rs2154133391
|
|
|
NM_001267550.2(TTN):c.105372G>A (p.Lys35124=)
|
|
|
|
NM_001267550.2(TTN):c.105380T>C (p.Leu35127Ser)
|
|
|
|
NM_001267550.2(TTN):c.105384A>T (p.Ala35128=)
|
rs3813250
|
|
|
NM_001267550.2(TTN):c.105386C>G (p.Ala35129Gly)
|
rs1688988300
|
|
|
NM_001267550.2(TTN):c.105389G>A (p.Arg35130Lys)
|
|
|
|
NM_001267550.2(TTN):c.105394C>G (p.Leu35132Val)
|
|
|
|
NM_001267550.2(TTN):c.105398C>T (p.Thr35133Ile)
|
|
|
|
NM_001267550.2(TTN):c.10539C>G (p.Phe3513Leu)
|
rs2154336001
|
|
|
NM_001267550.2(TTN):c.105406C>A (p.Arg35136=)
|
rs372875128
|
|
|
NM_001267550.2(TTN):c.105406C>G (p.Arg35136Gly)
|
rs372875128
|
|
|
NM_001267550.2(TTN):c.105410C>T (p.Ser35137Phe)
|
|
|
|
NM_001267550.2(TTN):c.105415A>G (p.Thr35139Ala)
|
rs1029303559
|
|
|
NM_001267550.2(TTN):c.105417C>T (p.Thr35139=)
|
rs1373155619
|
|
|
NM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter)
|
rs1558995457
|
|
|
NM_001267550.2(TTN):c.105424G>C (p.Glu35142Gln)
|
rs765274398
|
|
|
NM_001267550.2(TTN):c.105428del (p.Gly35143fs)
|
rs886042825
|
|
|
NM_001267550.2(TTN):c.105434C>A (p.Ser35145Tyr)
|
rs1688961412
|
|
|
NM_001267550.2(TTN):c.105437C>T (p.Ala35146Val)
|
rs2154133306
|
|
|
NM_001267550.2(TTN):c.105439A>G (p.Arg35147Gly)
|
rs2154133304
|
|
|
NM_001267550.2(TTN):c.105456C>G (p.Thr35152=)
|
rs745952060
|
|
|
NM_001267550.2(TTN):c.105456C>T (p.Thr35152=)
|
rs745952060
|
|
|
NM_001267550.2(TTN):c.105459T>C (p.Asp35153=)
|
|
|
|
NM_001267550.2(TTN):c.105471A>G (p.Val35157=)
|
rs2154133273
|
|
|
NM_001267550.2(TTN):c.105471A>T (p.Val35157=)
|
|
|
|
NM_001267550.2(TTN):c.105477T>A (p.Thr35159=)
|
|
|
|
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter)
|
rs886042795
|
|
|
NM_001267550.2(TTN):c.105486G>A (p.Trp35162Ter)
|
|
|
|
NM_001267550.2(TTN):c.105497G>A (p.Gly35166Glu)
|
|
|
|
NM_001267550.2(TTN):c.105497G>T (p.Gly35166Val)
|
rs1060500538
|
|
|
NM_001267550.2(TTN):c.105498A>G (p.Gly35166=)
|
rs2154133248
|
|
|
NM_001267550.2(TTN):c.105499C>G (p.Gln35167Glu)
|
rs1558994144
|
|
|
NM_001267550.2(TTN):c.105500A>G (p.Gln35167Arg)
|
|
|
|
NM_001267550.2(TTN):c.105501A>G (p.Gln35167=)
|
|
|
|
NM_001267550.2(TTN):c.105504G>C (p.Val35168=)
|
|
|
|
NM_001267550.2(TTN):c.105506T>C (p.Leu35169Pro)
|
|
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
|
NM_001267550.2(TTN):c.105515C>A (p.Ser35172Tyr)
|
rs749354699
|
|
|
NM_001267550.2(TTN):c.105515C>T (p.Ser35172Phe)
|
|
|
|
NM_001267550.2(TTN):c.105525C>G (p.His35175Gln)
|
rs1215297501
|
|
|
NM_001267550.2(TTN):c.105525C>T (p.His35175=)
|
|
|
|
NM_001267550.2(TTN):c.105526C>A (p.Gln35176Lys)
|
|
|
|
NM_001267550.2(TTN):c.105539C>A (p.Thr35180Lys)
|
rs1575225765
|
|
|
NM_001267550.2(TTN):c.105543G>A (p.Lys35181=)
|
rs1575225685
|
|
|
NM_001267550.2(TTN):c.105545A>G (p.Tyr35182Cys)
|
rs878913505
|
|
|
NM_001267550.2(TTN):c.105554C>T (p.Thr35185Ile)
|
rs781567438
|
|
|
NM_001267550.2(TTN):c.105557T>C (p.Phe35186Ser)
|
|
|
|
NM_001267550.2(TTN):c.105577G>T (p.Ala35193Ser)
|
|
|
|
NM_001267550.2(TTN):c.105581C>T (p.Ser35194Phe)
|
|
|
|
NM_001267550.2(TTN):c.105584A>C (p.Asp35195Ala)
|
|
|
|
NM_001267550.2(TTN):c.105591C>A (p.Gly35197=)
|
|
|
|
NM_001267550.2(TTN):c.105592A>G (p.Asn35198Asp)
|
|
|
|
NM_001267550.2(TTN):c.105594T>C (p.Asn35198=)
|
|
|
|
NM_001267550.2(TTN):c.105600C>G (p.Ser35200Arg)
|
rs1553485050
|
|
|
NM_001267550.2(TTN):c.105604G>A (p.Val35202Met)
|
|
|
|
NM_001267550.2(TTN):c.105613_105633del (p.Asn35205_Glu35211del)
|
|
|
|
NM_001267550.2(TTN):c.105614del (p.Asn35205fs)
|
rs2154133153
|
|
|
NM_001267550.2(TTN):c.105616A>G (p.Ser35206Gly)
|
rs2154133150
|
|
|
NM_001267550.2(TTN):c.105624G>A (p.Gly35208=)
|
rs763022587
|
|
|
NM_001267550.2(TTN):c.105624G>C (p.Gly35208=)
|
rs763022587
|
|
|
NM_001267550.2(TTN):c.105629AAG[1] (p.Glu35211del)
|
|
|
|
NM_001267550.2(TTN):c.105630A>G (p.Gln35210=)
|
|
|
|
NM_001267550.2(TTN):c.105634G>A (p.Ala35212Thr)
|
|
|
|
NM_001267550.2(TTN):c.105635C>T (p.Ala35212Val)
|
|
|
|
NM_001267550.2(TTN):c.105636A>T (p.Ala35212=)
|
rs770221153
|
|
|
NM_001267550.2(TTN):c.105637G>A (p.Glu35213Lys)
|
|
|
|
NM_001267550.2(TTN):c.105644C>T (p.Thr35215Ile)
|
|
|
|
NM_001267550.2(TTN):c.105648G>A (p.Leu35216=)
|
|
|
|
NM_001267550.2(TTN):c.105652A>G (p.Ile35218Val)
|
|
|
|
NM_001267550.2(TTN):c.105655C>T (p.Gln35219Ter)
|
|
|
|
NM_001267550.2(TTN):c.105661G>A (p.Ala35221Thr)
|
|
|
|
NM_001267550.2(TTN):c.105662C>A (p.Ala35221Asp)
|
rs1558992011
|
|
|
NM_001267550.2(TTN):c.105664A>G (p.Arg35222Gly)
|
rs2154133116
|
|
|
NM_001267550.2(TTN):c.105665G>C (p.Arg35222Thr)
|
|
|
|
NM_001267550.2(TTN):c.105670A>T (p.Thr35224Ser)
|
rs1688850382
|
|
|
NM_001267550.2(TTN):c.105689C>T (p.Ser35230Leu)
|
|
|
|
NM_001267550.2(TTN):c.105691C>T (p.Pro35231Ser)
|
|
|
|
NM_001267550.2(TTN):c.105696A>T (p.Pro35232=)
|
|
|
|
NM_001267550.2(TTN):c.105697A>C (p.Arg35233=)
|
|
|
|
NM_001267550.2(TTN):c.105698G>C (p.Arg35233Thr)
|
|
|
|
NM_001267550.2(TTN):c.105703A>T (p.Lys35235Ter)
|
|
|
|
NM_001267550.2(TTN):c.105706T>C (p.Ser35236Pro)
|
|
|
|
NM_001267550.2(TTN):c.105715C>T (p.Pro35239Ser)
|
|
|
|
NM_001267550.2(TTN):c.105721G>A (p.Val35241Met)
|
|
|
|
NM_001267550.2(TTN):c.105731C>T (p.Pro35244Leu)
|
rs2154133075
|
|
|
NM_001267550.2(TTN):c.105732A>C (p.Pro35244=)
|
rs1203061089
|
|
|
NM_001267550.2(TTN):c.105735A>T (p.Glu35245Asp)
|
rs1444816567
|
|
|
NM_001267550.2(TTN):c.105737C>T (p.Ala35246Val)
|
rs370476812
|
|
|
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)
|
|
|
|
NM_001267550.2(TTN):c.105748C>A (p.Pro35250Thr)
|
|
|
|
NM_001267550.2(TTN):c.105765T>C (p.Ser35255=)
|
|
|
|
NM_001267550.2(TTN):c.105772C>T (p.Pro35258Ser)
|
|
|
|
NM_001267550.2(TTN):c.105778C>T (p.His35260Tyr)
|
|
|
|
NM_001267550.2(TTN):c.105780C>A (p.His35260Gln)
|
rs373486593
|
|
|
NM_001267550.2(TTN):c.105780C>T (p.His35260=)
|
rs373486593
|
|
|
NM_001267550.2(TTN):c.105783G>A (p.Pro35261=)
|
rs556765365
|
|
|
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe)
|
rs794729250
|
|
|
NM_001267550.2(TTN):c.105789C>T (p.Ala35263=)
|
rs2154133031
|
|
|
NM_001267550.2(TTN):c.105790G>C (p.Val35264Leu)
|
rs770730954
|
|
|
NM_001267550.2(TTN):c.105791dup (p.Ser35265fs)
|
rs1688794902
|
|
|
NM_001267550.2(TTN):c.105792A>T (p.Val35264=)
|
rs2154133027
|
|
|
NM_001267550.2(TTN):c.105796C>T (p.Pro35266Ser)
|
|
|
|
NM_001267550.2(TTN):c.105810dup (p.Pro35271fs)
|
rs1553484602
|
|
|
NM_001267550.2(TTN):c.105817C>T (p.Pro35273Ser)
|
|
|
|
NM_001267550.2(TTN):c.105818C>A (p.Pro35273Gln)
|
rs1553484561
|
|
|
NM_001267550.2(TTN):c.105821C>T (p.Thr35274Ile)
|
rs2857271
|
|
|
NM_001267550.2(TTN):c.105829G>A (p.Val35277Ile)
|
|
|
|
NM_001267550.2(TTN):c.105829G>T (p.Val35277Phe)
|
|
|
|
NM_001267550.2(TTN):c.105838C>T (p.Leu35280Phe)
|
rs1688767942
|
|
|
NM_001267550.2(TTN):c.105851C>G (p.Ala35284Gly)
|
rs1553484434
|
|
|
NM_001267550.2(TTN):c.105863T>G (p.Ile35288Ser)
|
rs764713884
|
|
|
NM_001267550.2(TTN):c.105865A>G (p.Thr35289Ala)
|
|
|
|
NM_001267550.2(TTN):c.10587T>C (p.Ala3529=)
|
rs2154335968
|
|
|
NM_001267550.2(TTN):c.105881C>G (p.Ala35294Gly)
|
rs569210689
|
|
|
NM_001267550.2(TTN):c.105881C>T (p.Ala35294Val)
|
|
|
|
NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp)
|
rs886055219
|
|
|
NM_001267550.2(TTN):c.105898del (p.Ile35300fs)
|
|
|
|
NM_001267550.2(TTN):c.105899T>C (p.Ile35300Thr)
|
|
|
|
NM_001267550.2(TTN):c.105903A>T (p.Ala35301=)
|
|
|
|
NM_001267550.2(TTN):c.105904A>G (p.Lys35302Glu)
|
|
|
|
NM_001267550.2(TTN):c.105908T>C (p.Leu35303Pro)
|
|
|
|
NM_001267550.2(TTN):c.105921T>G (p.Val35307=)
|
|
|
|
NM_001267550.2(TTN):c.105923A>C (p.Glu35308Ala)
|
|
|
|
NM_001267550.2(TTN):c.105928A>C (p.Ser35310Arg)
|
|
|
|
NM_001267550.2(TTN):c.105929G>A (p.Ser35310Asn)
|
rs1553484229
|
|
|
NM_001267550.2(TTN):c.105929G>C (p.Ser35310Thr)
|
rs1553484229
|
|
|
NM_001267550.2(TTN):c.105939G>T (p.Arg35313Ser)
|
rs1688720188
|
|
|
NM_001267550.2(TTN):c.105950T>C (p.Val35317Ala)
|
|
|
|
NM_001267550.2(TTN):c.105952A>T (p.Thr35318Ser)
|
rs1688710616
|
|
|
NM_001267550.2(TTN):c.105953C>A (p.Thr35318Asn)
|
rs1391706140
|
|
|
NM_001267550.2(TTN):c.105953C>G (p.Thr35318Ser)
|
rs1391706140
|
|
|
NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter)
|
rs1575219172
|
|
|
NM_001267550.2(TTN):c.105959A>T (p.Tyr35320Phe)
|
|
|
|
NM_001267550.2(TTN):c.105966T>C (p.Asp35322=)
|
|
|
|
NM_001267550.2(TTN):c.105980A>G (p.Lys35327Arg)
|
rs1164792965
|
|
|
NM_001267550.2(TTN):c.105981G>A (p.Lys35327=)
|
rs1306036159
|
|
|
NM_001267550.2(TTN):c.105991C>A (p.His35331Asn)
|
|
|
|
NM_001267550.2(TTN):c.105997_105998del (p.Gln35333fs)
|
|
|
|
NM_001267550.2(TTN):c.106006T>G (p.Tyr35336Asp)
|
rs935907208
|
|
|
NM_001267550.2(TTN):c.106015del (p.Asp35339fs)
|
rs1558988204
|
|
|
NM_001267550.2(TTN):c.106018G>A (p.Gly35340Ser)
|
rs373610666
|
|
|
NM_001267550.2(TTN):c.106019G>C (p.Gly35340Ala)
|
|
|
|
NM_001267550.2(TTN):c.106019G>T (p.Gly35340Val)
|
|
|
|
NM_001267550.2(TTN):c.106019del (p.Gly35340fs)
|
rs727504482
|
|
|
NM_001267550.2(TTN):c.106022C>G (p.Thr35341Ser)
|
|
|
|
NM_001267550.2(TTN):c.106043A>C (p.Asn35348Thr)
|
|
|
|
NM_001267550.2(TTN):c.106045C>A (p.Leu35349Ile)
|
rs1220665174
|
|
|
NM_001267550.2(TTN):c.106046T>C (p.Leu35349Pro)
|
|
|
|
NM_001267550.2(TTN):c.106049C>T (p.Thr35350Ile)
|
rs1688665396
|
|
|
NM_001267550.2(TTN):c.106049del (p.Thr35350fs)
|
rs1250336644
|
|
|
NM_001267550.2(TTN):c.106051G>A (p.Glu35351Lys)
|
|
|
|
NM_001267550.2(TTN):c.106057G>A (p.Asp35353Asn)
|
rs780037060
|
|
|
NM_001267550.2(TTN):c.106057G>C (p.Asp35353His)
|
rs780037060
|
|
|
NM_001267550.2(TTN):c.10605G>A (p.Gly3535=)
|
|
|
|
NM_001267550.2(TTN):c.10605G>T (p.Gly3535=)
|
|
|
|
NM_001267550.2(TTN):c.106066G>A (p.Glu35356Lys)
|
rs886055218
|
|
|
NM_001267550.2(TTN):c.106070A>C (p.Tyr35357Ser)
|
|
|
|
NM_001267550.2(TTN):c.106072G>A (p.Val35358Ile)
|
rs2154132826
|
|
|
NM_001267550.2(TTN):c.106073T>A (p.Val35358Asp)
|
rs1172243981
|
|
|
NM_001267550.2(TTN):c.106075T>C (p.Cys35359Arg)
|
|
|
|
NM_001267550.2(TTN):c.106078G>C (p.Glu35360Gln)
|
|
|
|
NM_001267550.2(TTN):c.106087G>A (p.Gly35363Ser)
|
|
|
|
NM_001267550.2(TTN):c.106091A>G (p.Glu35364Gly)
|
rs1688643496
|
|
|
NM_001267550.2(TTN):c.106092A>C (p.Glu35364Asp)
|
|
|
|
NM_001267550.2(TTN):c.10609T>C (p.Tyr3537His)
|
rs1553969617
|
|
|
NM_001267550.2(TTN):c.106102T>C (p.Ser35368Pro)
|
rs1688636055
|
|
|
NM_001267550.2(TTN):c.106103C>G (p.Ser35368Cys)
|
|
|
|
NM_001267550.2(TTN):c.106108A>G (p.Thr35370Ala)
|
|
|
|
NM_001267550.2(TTN):c.106111A>G (p.Asn35371Asp)
|
|
|
|
NM_001267550.2(TTN):c.106117C>T (p.Gln35373Ter)
|
rs778126842
|
|
|
NM_001267550.2(TTN):c.106119A>G (p.Gln35373=)
|
|
|
|
NM_001267550.2(TTN):c.106126G>A (p.Gly35376Arg)
|
|
|
|
NM_001267550.2(TTN):c.106127G>T (p.Gly35376Val)
|
|
|
|
NM_001267550.2(TTN):c.106128G>T (p.Gly35376=)
|
|
|
|
NM_001267550.2(TTN):c.106133C>G (p.Ala35378Gly)
|
rs555476312
|
|
|
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val)
|
rs555476312
|
|
|
NM_001267550.2(TTN):c.106137_106139dup (p.Phe35379_Lys35380insAsn)
|
rs2154132776
|
|
|
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter)
|
rs886044460
|
|
|
NM_001267550.2(TTN):c.106150G>A (p.Glu35384Lys)
|
rs1170470596
|
|
|
NM_001267550.2(TTN):c.106157dup (p.Ser35387fs)
|
|
|
|
NM_001267550.2(TTN):c.106179G>C (p.Lys35393Asn)
|
|
|
|
NM_001267550.2(TTN):c.106184C>T (p.Ser35395Leu)
|
|
|
|
NM_001267550.2(TTN):c.106186G>A (p.Asp35396Asn)
|
|
|
|
NM_001267550.2(TTN):c.106188T>A (p.Asp35396Glu)
|
rs770681247
|
|
|
NM_001267550.2(TTN):c.106188T>C (p.Asp35396=)
|
rs770681247
|
|
|
NM_001267550.2(TTN):c.106189C>T (p.Gln35397Ter)
|
|
|
|
NM_001267550.2(TTN):c.106199C>G (p.Thr35400Ser)
|
rs906681609
|
|
|
NM_001267550.2(TTN):c.106201G>A (p.Glu35401Lys)
|
rs2154132721
|
|
|
NM_001267550.2(TTN):c.106211T>C (p.Val35404Ala)
|
rs1688584053
|
|
|
NM_001267550.2(TTN):c.106212A>C (p.Val35404=)
|
rs1312103333
|
|
|
NM_001267550.2(TTN):c.106214C>G (p.Thr35405Ser)
|
rs1688580203
|
|
|
NM_001267550.2(TTN):c.106215C>T (p.Thr35405=)
|
rs886038793
|
|
|
NM_001267550.2(TTN):c.106216A>C (p.Arg35406=)
|
|
|
|
NM_001267550.2(TTN):c.106217G>C (p.Arg35406Thr)
|
rs371304729
|
|
|
NM_001267550.2(TTN):c.106219A>G (p.Lys35407Glu)
|
rs1688576388
|
|
|
NM_001267550.2(TTN):c.106223C>A (p.Thr35408Asn)
|
rs1688573613
|
|
|
NM_001267550.2(TTN):c.106229C>G (p.Pro35410Arg)
|
rs1553483445
|
|
|
NM_001267550.2(TTN):c.106230A>C (p.Pro35410=)
|
|
|
|
NM_001267550.2(TTN):c.106234G>C (p.Ala35412Pro)
|
rs766892661
|
|
|
NM_001267550.2(TTN):c.106238C>G (p.Pro35413Arg)
|
rs1688567795
|
|
|
NM_001267550.2(TTN):c.106240G>C (p.Glu35414Gln)
|
rs1558984927
|
|
|
NM_001267550.2(TTN):c.106253C>T (p.Ser35418Leu)
|
|
|
|
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs)
|
|
|
|
NM_001267550.2(TTN):c.106265T>C (p.Ile35422Thr)
|
rs1688557044
|
|
|
NM_001267550.2(TTN):c.106274G>A (p.Gly35425Glu)
|
rs1204851576
|
|
|
NM_001267550.2(TTN):c.106285A>T (p.Thr35429Ser)
|
|
|
|
NM_001267550.2(TTN):c.106289C>A (p.Thr35430Asn)
|
|
|
|
NM_001267550.2(TTN):c.106296T>C (p.Ser35432=)
|
|
|
|
NM_001267550.2(TTN):c.106302C>G (p.Asp35434Glu)
|
|
|
|
NM_001267550.2(TTN):c.106302C>T (p.Asp35434=)
|
rs1371891927
|
|
|
NM_001267550.2(TTN):c.106308T>G (p.Val35436=)
|
|
|
|
NM_001267550.2(TTN):c.106325A>G (p.Lys35442Arg)
|
rs1688520726
|
|
|
NM_001267550.2(TTN):c.106326G>A (p.Lys35442=)
|
|
|
|
NM_001267550.2(TTN):c.106327G>A (p.Ala35443Thr)
|
|
|
|
NM_001267550.2(TTN):c.106330A>G (p.Thr35444Ala)
|
rs1688516881
|
|
|
NM_001267550.2(TTN):c.106330A>T (p.Thr35444Ser)
|
rs1688516881
|
|
|
NM_001267550.2(TTN):c.106349C>T (p.Thr35450Ile)
|
rs371022420
|
|
|
NM_001267550.2(TTN):c.106358G>A (p.Trp35453Ter)
|
rs922408768
|
|
|
NM_001267550.2(TTN):c.106365A>C (p.Lys35455Asn)
|
|
|
|
NM_001267550.2(TTN):c.106374+1del
|
rs763404256
|
|
|
NM_001267550.2(TTN):c.106374G>A (p.Lys35458=)
|
rs2154132585
|
|
|
NM_001267550.2(TTN):c.106375-19A>G
|
|
|
|
NM_001267550.2(TTN):c.106375-19A>T
|
|
|
|
NM_001267550.2(TTN):c.106375-20A>G
|
|
|
|
NM_001267550.2(TTN):c.106375-3C>T
|
rs1688412007
|
|
|
NM_001267550.2(TTN):c.106375-6C>T
|
rs2154132468
|
|
|
NM_001267550.2(TTN):c.106375-7T>C
|
|
|
|
NM_001267550.2(TTN):c.106378A>G (p.Ile35460Val)
|
rs1688408023
|
|
|
NM_001267550.2(TTN):c.106392T>G (p.Gly35464=)
|
|
|
|
NM_001267550.2(TTN):c.106397A>G (p.Tyr35466Cys)
|
|
|
|
NM_001267550.2(TTN):c.106398T>C (p.Tyr35466=)
|
rs1553482820
|
|
|
NM_001267550.2(TTN):c.106402C>G (p.Leu35468Val)
|
|
|
|
NM_001267550.2(TTN):c.106415A>C (p.Lys35472Thr)
|
rs1688385311
|
|
|
NM_001267550.2(TTN):c.106416G>A (p.Lys35472=)
|
|
|
|
NM_001267550.2(TTN):c.106418G>A (p.Gly35473Glu)
|
rs1688381864
|
|
|
NM_001267550.2(TTN):c.106422G>A (p.Gly35474=)
|
|
|
|
NM_001267550.2(TTN):c.106423T>A (p.Phe35475Ile)
|
rs377463445
|
|
|
NM_001267550.2(TTN):c.106425C>T (p.Phe35475=)
|
rs1445321656
|
|
|
NM_001267550.2(TTN):c.106431A>G (p.Leu35477=)
|
rs2154132413
|
|
|
NM_001267550.2(TTN):c.106439A>C (p.His35480Pro)
|
|
|
|
NM_001267550.2(TTN):c.106444A>T (p.Thr35482Ser)
|
rs1423470146
|
|
|
NM_001267550.2(TTN):c.106451C>A (p.Thr35484Asn)
|
rs754163825
|
|
|
NM_001267550.2(TTN):c.106461T>A (p.Ser35487Arg)
|
rs886039020
|
|
|
NM_001267550.2(TTN):c.106472C>A (p.Thr35491Asn)
|
rs1461069852
|
|
|
NM_001267550.2(TTN):c.106472C>T (p.Thr35491Ile)
|
|
|
|
NM_001267550.2(TTN):c.106479A>C (p.Thr35493=)
|
|
|
|
NM_001267550.2(TTN):c.106486A>C (p.Asn35496His)
|
rs1688351717
|
|
|
NM_001267550.2(TTN):c.106487A>C (p.Asn35496Thr)
|
rs2154132393
|
|
|
NM_001267550.2(TTN):c.106487dup (p.Asn35496fs)
|
rs2154132395
|
|
|
NM_001267550.2(TTN):c.106488T>A (p.Asn35496Lys)
|
|
|
|
NM_001267550.2(TTN):c.106492G>C (p.Ala35498Pro)
|
rs878879036
|
|
|
NM_001267550.2(TTN):c.106495G>A (p.Gly35499Arg)
|
rs779794234
|
|
|
NM_001267550.2(TTN):c.106496G>A (p.Gly35499Glu)
|
|
|
|
NM_001267550.2(TTN):c.106500T>C (p.Ser35500=)
|
|
|
|
NM_001267550.2(TTN):c.106511G>T (p.Ser35504Ile)
|
|
|
|
NM_001267550.2(TTN):c.106514G>A (p.Cys35505Tyr)
|
rs2154132356
|
|
|
NM_001267550.2(TTN):c.106519T>C (p.Leu35507=)
|
|
|
|
NM_001267550.2(TTN):c.106525A>G (p.Ile35509Val)
|
rs1553482514
|
|
|
NM_001267550.2(TTN):c.106526T>C (p.Ile35509Thr)
|
rs1447572736
|
|
|
NM_001267550.2(TTN):c.106531+1G>A
|
rs760915007
|
|
|
NM_001267550.2(TTN):c.106531+5G>T
|
|
|
|
NM_001267550.2(TTN):c.106531+8G>A
|
|
|
|
NM_001267550.2(TTN):c.106531G>A (p.Ala35511Thr)
|
rs768786354
|
|
|
NM_001267550.2(TTN):c.106531G>C (p.Ala35511Pro)
|
|
|
|
NM_001267550.2(TTN):c.106532-18C>T
|
|
|
|
NM_001267550.2(TTN):c.106546G>A (p.Glu35516Lys)
|
|
|
|
NM_001267550.2(TTN):c.106558G>A (p.Val35520Ile)
|
|
|
|
NM_001267550.2(TTN):c.106565C>A (p.Thr35522Lys)
|
|
|
|
NM_001267550.2(TTN):c.106567C>A (p.Gln35523Lys)
|
rs1019567796
|
|
|
NM_001267550.2(TTN):c.10656T>C (p.Ala3552=)
|
|
|
|
NM_001267550.2(TTN):c.106573A>G (p.Thr35525Ala)
|
rs1575198568
|
|
|
NM_001267550.2(TTN):c.106575_106576insGTAATTTCT (p.Thr35525_Ser35526insValIleSer)
|
rs768256269
|
|
|
NM_001267550.2(TTN):c.10657A>G (p.Thr3553Ala)
|
rs1553969472
|
|
|
NM_001267550.2(TTN):c.106584T>C (p.Ile35528=)
|
|
|
|
NM_001267550.2(TTN):c.106587A>C (p.Thr35529=)
|
|
|
|
NM_001267550.2(TTN):c.106588C>A (p.Pro35530Thr)
|
|
|
|
NM_001267550.2(TTN):c.106592A>G (p.Gln35531Arg)
|
rs1687861665
|
|
|
NM_001267550.2(TTN):c.10659A>C (p.Thr3553=)
|
rs748958021
|
|
|
NM_001267550.2(TTN):c.1065T>G (p.Ser355=)
|
rs1574929574
|
|
|
NM_001267550.2(TTN):c.106600G>A (p.Ala35534Thr)
|
|
|
|
NM_001267550.2(TTN):c.106601C>T (p.Ala35534Val)
|
rs878854284
|
|
|
NM_001267550.2(TTN):c.106602TGT[1] (p.Val35536del)
|
|
|
|
NM_001267550.2(TTN):c.106603G>A (p.Val35535Ile)
|
rs1553481274
|
|
|
NM_001267550.2(TTN):c.106607T>C (p.Val35536Ala)
|
|
|
|
NM_001267550.2(TTN):c.106608C>A (p.Val35536=)
|
|
|
|
NM_001267550.2(TTN):c.106608C>T (p.Val35536=)
|
rs2154131595
|
|
|
NM_001267550.2(TTN):c.106610A>G (p.Gln35537Arg)
|
|
|
|
NM_001267550.2(TTN):c.106612G>C (p.Glu35538Gln)
|
rs968812751
|
|
|
NM_001267550.2(TTN):c.106617A>G (p.Glu35539=)
|
|
|
|
NM_001267550.2(TTN):c.106635A>G (p.Leu35545=)
|
|
|
|
NM_001267550.2(TTN):c.106648A>G (p.Ile35550Val)
|
rs1558973830
|
|
|
NM_001267550.2(TTN):c.106654A>T (p.Met35552Leu)
|
|
|
|
NM_001267550.2(TTN):c.106655T>G (p.Met35552Arg)
|
rs2154131569
|
|
|
NM_001267550.2(TTN):c.106660G>C (p.Glu35554Gln)
|
rs1165517840
|
|
|
NM_001267550.2(TTN):c.106661A>G (p.Glu35554Gly)
|
|
|
|
NM_001267550.2(TTN):c.106668A>G (p.Lys35556=)
|
|
|
|
NM_001267550.2(TTN):c.106670C>T (p.Ser35557Phe)
|
rs760531226
|
|
|
NM_001267550.2(TTN):c.106679A>T (p.Lys35560Met)
|
|
|
|
NM_001267550.2(TTN):c.106689C>A (p.Leu35563=)
|
rs766528811
|
|
|
NM_001267550.2(TTN):c.106708G>A (p.Val35570Ile)
|
|
|
|
NM_001267550.2(TTN):c.106712T>C (p.Leu35571Pro)
|
|
|
|
NM_001267550.2(TTN):c.106713G>A (p.Leu35571=)
|
rs1575196775
|
|
|
NM_001267550.2(TTN):c.10671T>C (p.Thr3557=)
|
|
|
|
NM_001267550.2(TTN):c.106723G>A (p.Glu35575Lys)
|
rs886055217
|
|
|
NM_001267550.2(TTN):c.106723G>C (p.Glu35575Gln)
|
|
|
|
NM_001267550.2(TTN):c.106724A>C (p.Glu35575Ala)
|
|
|
|
NM_001267550.2(TTN):c.106727T>G (p.Val35576Gly)
|
rs144188176
|
|
|
NM_001267550.2(TTN):c.106735T>G (p.Ser35579Ala)
|
|
|
|
NM_001267550.2(TTN):c.106740del (p.Ala35581fs)
|
rs2154131505
|
|
|
NM_001267550.2(TTN):c.106750C>T (p.Leu35584=)
|
|
|
|
NM_001267550.2(TTN):c.106764T>C (p.Ile35588=)
|
rs771885830
|
|
|
NM_001267550.2(TTN):c.106765G>A (p.Val35589Ile)
|
rs745560169
|
|
|
NM_001267550.2(TTN):c.106766T>C (p.Val35589Ala)
|
|
|
|
NM_001267550.2(TTN):c.106768dup (p.His35590fs)
|
rs1687796533
|
|
|
NM_001267550.2(TTN):c.106770T>G (p.His35590Gln)
|
rs1052651705
|
|
|
NM_001267550.2(TTN):c.106771G>C (p.Glu35591Gln)
|
rs935554305
|
|
|
NM_001267550.2(TTN):c.106773_106780del (p.Glu35591fs)
|
|
|
|
NM_001267550.2(TTN):c.106774G>A (p.Glu35592Lys)
|
|
|
|
NM_001267550.2(TTN):c.10678+7C>T
|
rs2154335892
|
|
|
NM_001267550.2(TTN):c.10678+9C>A
|
|
|
|
NM_001267550.2(TTN):c.106783A>G (p.Lys35595Glu)
|
|
|
|
NM_001267550.2(TTN):c.10679-13C>T
|
rs2154335145
|
|
|
NM_001267550.2(TTN):c.10679-14A>G
|
|
|
|
NM_001267550.2(TTN):c.10679-15C>G
|
|
|
|
NM_001267550.2(TTN):c.10679-4A>G
|
|
|
|
NM_001267550.2(TTN):c.106792C>G (p.Gln35598Glu)
|
rs767339203
|
|
|
NM_001267550.2(TTN):c.106794G>A (p.Gln35598=)
|
|
|
|
NM_001267550.2(TTN):c.106801G>A (p.Glu35601Lys)
|
rs1558972236
|
|
|
NM_001267550.2(TTN):c.106827T>C (p.Ile35609=)
|
rs727504540
|
|
|
NM_001267550.2(TTN):c.106828A>T (p.Lys35610Ter)
|
rs753984036
|
|
|
NM_001267550.2(TTN):c.106835T>C (p.Phe35612Ser)
|
|
|
|
NM_001267550.2(TTN):c.106841C>G (p.Thr35614Ser)
|
rs2154131436
|
|
|
NM_001267550.2(TTN):c.106852A>G (p.Ile35618Val)
|
rs2154131431
|
|
|
NM_001267550.2(TTN):c.106854A>G (p.Ile35618Met)
|
|
|
|
NM_001267550.2(TTN):c.106854A>T (p.Ile35618=)
|
|
|
|
NM_001267550.2(TTN):c.106857C>A (p.Asn35619Lys)
|
rs116604145
|
|
|
NM_001267550.2(TTN):c.106870C>T (p.Leu35624=)
|
|
|
|
NM_001267550.2(TTN):c.106875T>A (p.Val35625=)
|
|
|
|
NM_001267550.2(TTN):c.10687C>T (p.Leu3563=)
|
rs1574376699
|
|
|
NM_001267550.2(TTN):c.106889T>C (p.Ile35630Thr)
|
|
|
|
NM_001267550.2(TTN):c.106894G>A (p.Gly35632Ser)
|
|
|
|
NM_001267550.2(TTN):c.106894G>C (p.Gly35632Arg)
|
|
|
|
NM_001267550.2(TTN):c.106895G>T (p.Gly35632Val)
|
rs1210557316
|
|
|
NM_001267550.2(TTN):c.10689A>G (p.Leu3563=)
|
rs2154335118
|
|
|
NM_001267550.2(TTN):c.106903G>A (p.Asp35635Asn)
|
|
|
|
NM_001267550.2(TTN):c.106910A>G (p.Lys35637Arg)
|
|
|
|
NM_001267550.2(TTN):c.106911A>T (p.Lys35637Asn)
|
rs767045071
|
|
|
NM_001267550.2(TTN):c.106912T>C (p.Trp35638Arg)
|
rs1408667252
|
|
|
NM_001267550.2(TTN):c.106915G>A (p.Val35639Ile)
|
rs557752216
|
|
|
NM_001267550.2(TTN):c.106915G>C (p.Val35639Leu)
|
|
|
|
NM_001267550.2(TTN):c.106919T>C (p.Leu35640Pro)
|
rs750550267
|
|
|
NM_001267550.2(TTN):c.106926C>A (p.Gly35642=)
|
|
|
|
NM_001267550.2(TTN):c.106928T>C (p.Val35643Ala)
|
|
|
|
NM_001267550.2(TTN):c.10692T>C (p.Asp3564=)
|
rs1347086741
|
|
|
NM_001267550.2(TTN):c.106930G>C (p.Glu35644Gln)
|
|
|
|
NM_001267550.2(TTN):c.106935T>A (p.Leu35645=)
|
|
|
|
NM_001267550.2(TTN):c.106940A>C (p.Asn35647Thr)
|
|
|
|
NM_001267550.2(TTN):c.106941C>T (p.Asn35647=)
|
rs1397466214
|
|
|
NM_001267550.2(TTN):c.106948G>A (p.Glu35650Lys)
|
|
|
|
NM_001267550.2(TTN):c.106953C>T (p.Tyr35651=)
|
rs376886668
|
|
|
NM_001267550.2(TTN):c.106957T>G (p.Tyr35653Asp)
|
rs886042500
|
|
|
NM_001267550.2(TTN):c.106959T>C (p.Tyr35653=)
|
rs369450212
|
|
|
NM_001267550.2(TTN):c.106969G>A (p.Gly35657Ser)
|
rs2154131322
|
|
|
NM_001267550.2(TTN):c.106974C>A (p.Ser35658Arg)
|
|
|
|
NM_001267550.2(TTN):c.106978C>T (p.Gln35660Ter)
|
|
|
|
NM_001267550.2(TTN):c.106984C>A (p.Leu35662Ile)
|
rs2154131306
|
|
|
NM_001267550.2(TTN):c.106990A>G (p.Ile35664Val)
|
rs781108499
|
|
|
NM_001267550.2(TTN):c.106991T>G (p.Ile35664Ser)
|
rs1060500501
|
|
|
NM_001267550.2(TTN):c.106992C>T (p.Ile35664=)
|
rs768519509
|
|
|
NM_001267550.2(TTN):c.106996C>A (p.Gln35666Lys)
|
|
|
|
NM_001267550.2(TTN):c.106996C>T (p.Gln35666Ter)
|
rs750660824
|
|
|
NM_001267550.2(TTN):c.1069del (p.Ala357fs)
|
rs2154356210
|
|
|
NM_001267550.2(TTN):c.107002A>C (p.Ser35668Arg)
|
|
|
|
NM_001267550.2(TTN):c.107003G>A (p.Ser35668Asn)
|
rs1687674300
|
|
|
NM_001267550.2(TTN):c.107006del (p.His35669fs)
|
|
|
|
NM_001267550.2(TTN):c.107009G>A (p.Arg35670Lys)
|
rs534961012
|
|
|
NM_001267550.2(TTN):c.107022C>T (p.Ile35674=)
|
rs2154131268
|
|
|
NM_001267550.2(TTN):c.107023C>T (p.Leu35675Phe)
|
|
|
|
NM_001267550.2(TTN):c.107027C>T (p.Thr35676Ile)
|
|
|
|
NM_001267550.2(TTN):c.107033dup (p.Ser35679fs)
|
rs2154131263
|
|
|
NM_001267550.2(TTN):c.107034A>T (p.Ile35678=)
|
rs1575191799
|
|
|
NM_001267550.2(TTN):c.107046G>C (p.Lys35682Asn)
|
|
|
|
NM_001267550.2(TTN):c.107049A>G (p.Glu35683=)
|
rs1390069717
|
|
|
NM_001267550.2(TTN):c.107058C>G (p.Val35686=)
|
rs767818722
|
|
|
NM_001267550.2(TTN):c.107059A>C (p.Lys35687Gln)
|
rs2154131240
|
|
|
NM_001267550.2(TTN):c.107061G>A (p.Lys35687=)
|
rs113190638
|
|
|
NM_001267550.2(TTN):c.107065_107068del (p.Gln35689fs)
|
rs2154131227
|
|
|
NM_001267550.2(TTN):c.107066A>G (p.Gln35689Arg)
|
rs1451601178
|
|
|
NM_001267550.2(TTN):c.10707G>A (p.Gly3569=)
|
rs2154335100
|
|
|
NM_001267550.2(TTN):c.107088A>G (p.Lys35696=)
|
|
|
|
NM_001267550.2(TTN):c.107093T>A (p.Leu35698His)
|
|
|
|
NM_001267550.2(TTN):c.107097A>G (p.Ser35699=)
|
rs771821464
|
|
|
NM_001267550.2(TTN):c.107098G>A (p.Asp35700Asn)
|
rs1575190768
|
|
|
NM_001267550.2(TTN):c.107099A>G (p.Asp35700Gly)
|
rs1060500391
|
|
|
NM_001267550.2(TTN):c.107101G>A (p.Ala35701Thr)
|
|
|
|
NM_001267550.2(TTN):c.107109C>T (p.Ala35703=)
|
rs2154131185
|
|
|
NM_001267550.2(TTN):c.107112C>T (p.Phe35704=)
|
|
|
|
NM_001267550.2(TTN):c.107123C>T (p.Pro35708Leu)
|
rs71423567
|
|
|
NM_001267550.2(TTN):c.107125A>G (p.Arg35709Gly)
|
|
|
|
NM_001267550.2(TTN):c.107126G>T (p.Arg35709Ile)
|
|
|
|
NM_001267550.2(TTN):c.107130T>C (p.Ser35710=)
|
|
|
|
NM_001267550.2(TTN):c.107143G>A (p.Glu35715Lys)
|
|
|
|
NM_001267550.2(TTN):c.107157T>C (p.Val35719=)
|
rs1553479771
|
|
|
NM_001267550.2(TTN):c.107158C>A (p.Leu35720Ile)
|
|
|
|
NM_001267550.2(TTN):c.107173A>G (p.Ile35725Val)
|
rs1687594887
|
|
|
NM_001267550.2(TTN):c.107181C>G (p.Gly35727=)
|
rs762859509
|
|
|
NM_001267550.2(TTN):c.107181C>T (p.Gly35727=)
|
rs762859509
|
|
|
NM_001267550.2(TTN):c.107191C>T (p.Pro35731Ser)
|
rs1687589442
|
|
|
NM_001267550.2(TTN):c.107199C>A (p.Ile35733=)
|
rs776237176
|
|
|
NM_001267550.2(TTN):c.107199C>G (p.Ile35733Met)
|
rs776237176
|
|
|
NM_001267550.2(TTN):c.107199C>T (p.Ile35733=)
|
rs776237176
|
|
|
NM_001267550.2(TTN):c.107202_107203del (p.Trp35735fs)
|
rs1575189496
|
|
|
NM_001267550.2(TTN):c.107204G>A (p.Trp35735Ter)
|
|
|
|
NM_001267550.2(TTN):c.107209A>C (p.Lys35737Gln)
|
rs1687580805
|
|
|
NM_001267550.2(TTN):c.107217C>A (p.Asn35739Lys)
|
|
|
|
NM_001267550.2(TTN):c.107221C>G (p.Pro35741Ala)
|
rs1455118621
|
|
|
NM_001267550.2(TTN):c.107223+11T>C
|
|
|
|
NM_001267550.2(TTN):c.107223+1G>A
|
rs876658102
|
|
|
NM_001267550.2(TTN):c.107223+2T>C
|
|
|
|
NM_001267550.2(TTN):c.107223+3A>C
|
rs2154131091
|
|
|
NM_001267550.2(TTN):c.107223+8del
|
|
|
|
NM_001267550.2(TTN):c.107223A>G (p.Pro35741=)
|
|
|
|
NM_001267550.2(TTN):c.107224-1G>C
|
rs112720067
|
|
|
NM_001267550.2(TTN):c.107224-2A>G
|
rs111401822
|
|
|
NM_001267550.2(TTN):c.107225T>C (p.Ile35742Thr)
|
rs1553479315
|
|
|
NM_001267550.2(TTN):c.107234C>A (p.Ser35745Tyr)
|
rs2154130964
|
|
|
NM_001267550.2(TTN):c.107239A>T (p.Asn35747Tyr)
|
|
|
|
NM_001267550.2(TTN):c.107241T>C (p.Asn35747=)
|
rs2154130960
|
|
|
NM_001267550.2(TTN):c.107248A>G (p.Ile35750Val)
|
|
|
|
NM_001267550.2(TTN):c.107261G>A (p.Arg35754Lys)
|
|
|
|
NM_001267550.2(TTN):c.107269T>C (p.Tyr35757His)
|
rs2154130935
|
|
|
NM_001267550.2(TTN):c.107280A>G (p.Glu35760=)
|
rs2154130921
|
|
|
NM_001267550.2(TTN):c.107284C>A (p.Arg35762=)
|
rs1477669354
|
|
|
NM_001267550.2(TTN):c.107288A>C (p.Asn35763Thr)
|
rs1687455146
|
|
|
NM_001267550.2(TTN):c.107289T>C (p.Asn35763=)
|
rs900676745
|
|
|
NM_001267550.2(TTN):c.107290G>T (p.Ala35764Ser)
|
rs879048717
|
|
|
NM_001267550.2(TTN):c.107292A>G (p.Ala35764=)
|
rs1553479171
|
|
|
NM_001267550.2(TTN):c.107301C>T (p.Ser35767=)
|
rs1558965303
|
|
|
NM_001267550.2(TTN):c.107305A>C (p.Ser35769Arg)
|
|
|
|
NM_001267550.2(TTN):c.107307T>C (p.Ser35769=)
|
|
|
|
NM_001267550.2(TTN):c.107312dup (p.Tyr35772fs)
|
rs2154130897
|
|
|
NM_001267550.2(TTN):c.107314T>C (p.Tyr35772His)
|
|
|
|
NM_001267550.2(TTN):c.107316C>T (p.Tyr35772=)
|
rs2154130895
|
|
|
NM_001267550.2(TTN):c.107318C>A (p.Thr35773Lys)
|
|
|
|
NM_001267550.2(TTN):c.107321T>C (p.Ile35774Thr)
|
rs2154130889
|
|
|
NM_001267550.2(TTN):c.107322del (p.Lys35775fs)
|
rs2154130886
|
|
|
NM_001267550.2(TTN):c.107337C>G (p.Phe35779Leu)
|
rs1687437542
|
|
|
NM_001267550.2(TTN):c.107342G>C (p.Gly35781Ala)
|
|
|
|
NM_001267550.2(TTN):c.107343_107346del (p.Gln35782fs)
|
|
|
|
NM_001267550.2(TTN):c.107346G>C (p.Gln35782His)
|
|
|
|
NM_001267550.2(TTN):c.107348G>T (p.Cys35783Phe)
|
rs1473450556
|
|
|
NM_001267550.2(TTN):c.107349T>C (p.Cys35783=)
|
rs2154130874
|
|
|
NM_001267550.2(TTN):c.10734C>T (p.Ser3578=)
|
|
|
|
NM_001267550.2(TTN):c.107351C>A (p.Ser35784Ter)
|
rs1575185742
|
|
|
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter)
|
rs1575185742
|
|
|
NM_001267550.2(TTN):c.107353G>T (p.Ala35785Ser)
|
|
|
|
NM_001267550.2(TTN):c.107361T>C (p.Ala35787=)
|
|
|
|
NM_001267550.2(TTN):c.107370G>C (p.Met35790Ile)
|
|
|
|
NM_001267550.2(TTN):c.107372T>C (p.Val35791Ala)
|
|
|
|
NM_001267550.2(TTN):c.107377+11C>T
|
rs2154130827
|
|
|
NM_001267550.2(TTN):c.107377+13T>A
|
|
|
|
NM_001267550.2(TTN):c.107377+13T>C
|
|
|
|
NM_001267550.2(TTN):c.107377+1G>C
|
rs112188483
|
|
|
NM_001267550.2(TTN):c.107377+3A>G
|
|
|
|
NM_001267550.2(TTN):c.107377+7A>G
|
|
|
|
NM_001267550.2(TTN):c.107377+8T>A
|
|
|
|
NM_001267550.2(TTN):c.107377+8T>C
|
rs2154130834
|
|
|
NM_001267550.2(TTN):c.107377+9C>G
|
rs2154130830
|
|
|
NM_001267550.2(TTN):c.107377C>T (p.Pro35793Ser)
|
rs1337678636
|
|
|
NM_001267550.2(TTN):c.107378-11A>G
|
rs2154130393
|
|
|
NM_001267550.2(TTN):c.107378-16C>G
|
|
|
|
NM_001267550.2(TTN):c.107378-18del
|
rs2154130403
|
|
|
NM_001267550.2(TTN):c.107378-19T>C
|
|
|
|
NM_001267550.2(TTN):c.107378-3C>G
|
rs762133725
|
|
|
NM_001267550.2(TTN):c.107387A>C (p.Glu35796Ala)
|
rs1553478042
|
|
|
NM_001267550.2(TTN):c.107391A>C (p.Glu35797Asp)
|
|
|
|
NM_001267550.2(TTN):c.107391A>G (p.Glu35797=)
|
|
|
|
NM_001267550.2(TTN):c.107392C>A (p.Pro35798Thr)
|
rs780544430
|
|
|
NM_001267550.2(TTN):c.107393C>A (p.Pro35798His)
|
|
|
|
NM_001267550.2(TTN):c.107395T>C (p.Ser35799Pro)
|
|
|
|
NM_001267550.2(TTN):c.107405T>C (p.Val35802Ala)
|
|
|
|
NM_001267550.2(TTN):c.107406A>G (p.Val35802=)
|
rs1313489849
|
|
|
NM_001267550.2(TTN):c.107409A>G (p.Val35803=)
|
rs1687042089
|
|
|
NM_001267550.2(TTN):c.107411T>C (p.Leu35804Ser)
|
rs2154130341
|
|
|
NM_001267550.2(TTN):c.107422G>A (p.Gly35808Ser)
|
rs2154130329
|
|
|
NM_001267550.2(TTN):c.107429C>T (p.Thr35810Ile)
|
|
|
|
NM_001267550.2(TTN):c.107436G>T (p.Leu35812Phe)
|
|
|
|
NM_001267550.2(TTN):c.107446T>A (p.Phe35816Ile)
|
|
|
|
NM_001267550.2(TTN):c.107456A>G (p.Gln35819Arg)
|
|
|
|
NM_001267550.2(TTN):c.107457G>A (p.Gln35819=)
|
rs1575177357
|
|
|
NM_001267550.2(TTN):c.107460_107463dup (p.Gln35822fs)
|
rs886042246
|
|
|
NM_001267550.2(TTN):c.107468T>C (p.Met35823Thr)
|
|
|
|
NM_001267550.2(TTN):c.107469G>A (p.Met35823Ile)
|
|
|
|
NM_001267550.2(TTN):c.10746A>C (p.Ala3582=)
|
|
|
|
NM_001267550.2(TTN):c.107470T>C (p.Ser35824Pro)
|
|
|
|
NM_001267550.2(TTN):c.107481G>C (p.Lys35827Asn)
|
rs1255811280
|
|
|
NM_001267550.2(TTN):c.107487G>C (p.Glu35829Asp)
|
rs2154130286
|
|
|
NM_001267550.2(TTN):c.107498_107499delinsAA (p.Ser35833Lys)
|
rs1687011687
|
|
|
NM_001267550.2(TTN):c.107504T>G (p.Phe35835Cys)
|
rs1687009141
|
|
|
NM_001267550.2(TTN):c.107506A>C (p.Ser35836Arg)
|
rs1687008231
|
|
|
NM_001267550.2(TTN):c.107509A>T (p.Ser35837Cys)
|
rs1232738337
|
|
|
NM_001267550.2(TTN):c.107510G>A (p.Ser35837Asn)
|
rs2154130270
|
|
|
NM_001267550.2(TTN):c.107511C>T (p.Ser35837=)
|
|
|
|
NM_001267550.2(TTN):c.107512A>G (p.Ser35838Gly)
|
rs1575176926
|
|
|
NM_001267550.2(TTN):c.107516G>A (p.Ser35839Asn)
|
|
|
|
NM_001267550.2(TTN):c.107524A>G (p.Ser35842Gly)
|
|
|
|
NM_001267550.2(TTN):c.107526C>T (p.Ser35842=)
|
|
|
|
NM_001267550.2(TTN):c.107529G>A (p.Met35843Ile)
|
|
|
|
NM_001267550.2(TTN):c.107540A>G (p.Lys35847Arg)
|
rs1575176578
|
|
|
NM_001267550.2(TTN):c.107547A>T (p.Ala35849=)
|
rs1391668008
|
|
|
NM_001267550.2(TTN):c.107552T>A (p.Met35851Lys)
|
|
|
|
NM_001267550.2(TTN):c.107557G>A (p.Ala35853Thr)
|
rs1553477669
|
|
|
NM_001267550.2(TTN):c.107559C>G (p.Ala35853=)
|
rs1060503952
|
|
|
NM_001267550.2(TTN):c.10755T>C (p.Ser3585=)
|
rs2154335067
|
|
|
NM_001267550.2(TTN):c.107564G>T (p.Ser35855Ile)
|
rs1053387515
|
|
|
NM_001267550.2(TTN):c.107565C>G (p.Ser35855Arg)
|
rs1469711405
|
|
|
NM_001267550.2(TTN):c.107577G>A (p.Met35859Ile)
|
rs772602914
|
|
|
NM_001267550.2(TTN):c.107578_107583del (p.Gln35860_Glu35861del)
|
rs751689670
|
|
|
NM_001267550.2(TTN):c.107583G>A (p.Glu35861=)
|
rs1575176019
|
|
|
NM_001267550.2(TTN):c.10758C>T (p.Phe3586=)
|
|
|
|
NM_001267550.2(TTN):c.107590G>C (p.Val35864Leu)
|
rs746430344
|
|
|
NM_001267550.2(TTN):c.107595A>C (p.Glu35865Asp)
|
rs1686972976
|
|
|
NM_001267550.2(TTN):c.107614A>G (p.Met35872Val)
|
|
|
|
NM_001267550.2(TTN):c.107617G>T (p.Gly35873Ter)
|
|
|
|
NM_001267550.2(TTN):c.107623T>C (p.Ser35875Pro)
|
|
|
|
NM_001267550.2(TTN):c.107631G>A (p.Met35877Ile)
|
rs1686957619
|
|
|
NM_001267550.2(TTN):c.107632A>G (p.Thr35878Ala)
|
|
|
|
NM_001267550.2(TTN):c.107633C>T (p.Thr35878Ile)
|
rs1686956801
|
|
|
NM_001267550.2(TTN):c.107634A>G (p.Thr35878=)
|
rs878854285
|
|
|
NM_001267550.2(TTN):c.107642A>G (p.Glu35881Gly)
|
rs1686954050
|
|
|
NM_001267550.2(TTN):c.107644del (p.Ser35882fs)
|
rs1179955071
|
|
|
NM_001267550.2(TTN):c.107645G>T (p.Ser35882Ile)
|
|
|
|
NM_001267550.2(TTN):c.107649A>T (p.Ser35883=)
|
|
|
|
NM_001267550.2(TTN):c.107653A>G (p.Ser35885Gly)
|
|
|
|
NM_001267550.2(TTN):c.107674A>C (p.Ile35892Leu)
|
|
|
|
NM_001267550.2(TTN):c.107680+4A>C
|
|
|
|
NM_001267550.2(TTN):c.107681-13T>C
|
|
|
|
NM_001267550.2(TTN):c.107681-14A>G
|
|
|
|
NM_001267550.2(TTN):c.107681-16T>A
|
|
|
|
NM_001267550.2(TTN):c.107681-18del
|
rs148707308
|
|
|
NM_001267550.2(TTN):c.107681-18dup
|
rs148707308
|
|
|
NM_001267550.2(TTN):c.107681-20T>A
|
|
|
|
NM_001267550.2(TTN):c.107681-21_107681-18del
|
rs148707308
|
|
|
NM_001267550.2(TTN):c.107681-3A>C
|
|
|
|
NM_001267550.2(TTN):c.107681-4A>C
|
|
|
|
NM_001267550.2(TTN):c.107681-5T>A
|
|
|
|
NM_001267550.2(TTN):c.107684T>C (p.Ile35895Thr)
|
rs2154130013
|
|
|
NM_001267550.2(TTN):c.107687C>T (p.Pro35896Leu)
|
rs767565621
|
|
|
NM_001267550.2(TTN):c.107690C>G (p.Pro35897Arg)
|
rs1558956138
|
|
|
NM_001267550.2(TTN):c.107690C>T (p.Pro35897Leu)
|
rs1558956138
|
|
|
NM_001267550.2(TTN):c.107701_107844del (p.Ala35901_Glu35948del)
|
rs1686739585
|
|
|
NM_001267550.2(TTN):c.107702C>T (p.Ala35901Val)
|
|
|
|
NM_001267550.2(TTN):c.107707C>T (p.Pro35903Ser)
|
|
|
|
NM_001267550.2(TTN):c.10770G>A (p.Glu3590=)
|
rs377401997
|
|
|
NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp)
|
rs377401997
|
|
|
NM_001267550.2(TTN):c.107714A>G (p.Asp35905Gly)
|
rs1558955826
|
|
|
NM_001267550.2(TTN):c.107716A>G (p.Ile35906Val)
|
rs1558955770
|
|
|
NM_001267550.2(TTN):c.107717T>C (p.Ile35906Thr)
|
rs1686809478
|
|
|
NM_001267550.2(TTN):c.107726A>G (p.Asp35909Gly)
|
rs1686804657
|
|
|
NM_001267550.2(TTN):c.107730A>G (p.Glu35910=)
|
rs2154129973
|
|
|
NM_001267550.2(TTN):c.107740C>T (p.Leu35914=)
|
rs1686796147
|
|
|
NM_001267550.2(TTN):c.107741T>C (p.Leu35914Pro)
|
|
|
|
NM_001267550.2(TTN):c.107743A>C (p.Thr35915Pro)
|
|
|
|
NM_001267550.2(TTN):c.107746G>C (p.Val35916Leu)
|
rs1686792927
|
|
|
NM_001267550.2(TTN):c.107747T>C (p.Val35916Ala)
|
rs2154129959
|
|
|
NM_001267550.2(TTN):c.107762C>A (p.Thr35921Lys)
|
rs749277200
|
|
|
NM_001267550.2(TTN):c.107768A>C (p.Glu35923Ala)
|
rs2154129939
|
|
|
NM_001267550.2(TTN):c.107770C>G (p.Pro35924Ala)
|
|
|
|
NM_001267550.2(TTN):c.107774C>A (p.Thr35925Asn)
|
rs755111765
|
|
|
NM_001267550.2(TTN):c.107777C>T (p.Pro35926Leu)
|
|
|
|
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
|
rs281864927
|
|
|
NM_001267550.2(TTN):c.107782G>T (p.Val35928Leu)
|
|
|
|
NM_001267550.2(TTN):c.107786C>A (p.Thr35929Lys)
|
|
|
|
NM_001267550.2(TTN):c.107787A>G (p.Thr35929=)
|
|
|
|
NM_001267550.2(TTN):c.107788T>C (p.Trp35930Arg)
|
rs1018591024
|
|
|
NM_001267550.2(TTN):c.107789G>A (p.Trp35930Ter)
|
rs1278698690
|
|
|
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg)
|
rs1575170417
|
|
|
NM_001267550.2(TTN):c.107800G>A (p.Gly35934Arg)
|
rs368277535
|
|
|
NM_001267550.2(TTN):c.107800G>T (p.Gly35934Ter)
|
rs368277535
|
|
|
NM_001267550.2(TTN):c.107808A>G (p.Lys35936=)
|
rs2154129894
|
|
|
NM_001267550.2(TTN):c.107811C>G (p.Ile35937Met)
|
|
|
|
NM_001267550.2(TTN):c.107817T>G (p.Ser35939Arg)
|
|
|
|
NM_001267550.2(TTN):c.107821G>C (p.Glu35941Gln)
|
|
|
|
NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile)
|
rs1575169924
|
|
|
NM_001267550.2(TTN):c.107835C>G (p.Phe35945Leu)
|
rs2154129860
|
|
|
NM_001267550.2(TTN):c.107836C>T (p.His35946Tyr)
|
rs1686745897
|
|
|
NM_001267550.2(TTN):c.107838C>T (p.His35946=)
|
|
|
|
NM_001267550.2(TTN):c.107839A>G (p.Ile35947Val)
|
rs1553476576
|
|
|
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)
|
rs281864928
|
|
|
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr)
|
rs281864928
|
|
|
NM_001267550.2(TTN):c.107840T>G (p.Ile35947Ser)
|
rs281864928
|
|
|
NM_001267550.2(TTN):c.107842_107844dup (p.Glu35948dup)
|
rs2154129846
|
|
|
NM_001267550.2(TTN):c.107844A>C (p.Glu35948Asp)
|
|
|
|
NM_001267550.2(TTN):c.107851G>T (p.Asp35951Tyr)
|
rs2154129841
|
|
|
NM_001267550.2(TTN):c.107861_107869del (p.Thr35954_Leu35956del)
|
|
|
|
NM_001267550.2(TTN):c.107864C>T (p.Thr35955Ile)
|
rs370267738
|
|
|
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)
|
rs267607156
|
|
|
NM_001267550.2(TTN):c.107870T>C (p.Ile35957Thr)
|
|
|
|
NM_001267550.2(TTN):c.107871C>G (p.Ile35957Met)
|
|
|
|
NM_001267550.2(TTN):c.107874C>T (p.Ile35958=)
|
|
|
|
NM_001267550.2(TTN):c.107875A>G (p.Met35959Val)
|
rs1220326083
|
|
|
NM_001267550.2(TTN):c.107881G>A (p.Val35961Ile)
|
rs780886524
|
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
|
NM_001267550.2(TTN):c.10788G>A (p.Lys3596=)
|
|
|
|
NM_001267550.2(TTN):c.107895T>C (p.Asp35965=)
|
|
|
|
NM_001267550.2(TTN):c.107898T>A (p.Gly35966=)
|
|
|
|
NM_001267550.2(TTN):c.107903T>C (p.Leu35968Pro)
|
rs1686710377
|
|
|
NM_001267550.2(TTN):c.107903T>G (p.Leu35968Arg)
|
rs1686710377
|
|
|
NM_001267550.2(TTN):c.107909C>T (p.Thr35970Ile)
|
rs765869850
|
|
|
NM_001267550.2(TTN):c.107911_107912del (p.Leu35971fs)
|
rs2154129791
|
|
|
NM_001267550.2(TTN):c.107912T>A (p.Leu35971Gln)
|
rs1686706196
|
|
|
NM_001267550.2(TTN):c.107913G>C (p.Leu35971=)
|
rs1323084443
|
|
|
NM_001267550.2(TTN):c.107925T>C (p.Asn35975=)
|
rs2154129783
|
|
|
NM_001267550.2(TTN):c.107926G>T (p.Glu35976Ter)
|
rs1259397789
|
|
|
NM_001267550.2(TTN):c.107933G>A (p.Gly35978Glu)
|
rs2154129775
|
|
|
NM_001267550.2(TTN):c.107940C>T (p.Asp35980=)
|
|
|
|
NM_001267550.2(TTN):c.107947A>C (p.Thr35983Pro)
|
|
|
|
NM_001267550.2(TTN):c.107949T>C (p.Thr35983=)
|
|
|
|
NM_001267550.2(TTN):c.107957T>C (p.Ile35986Thr)
|
rs1060500541
|
|
|
NM_001267550.2(TTN):c.107960A>G (p.His35987Arg)
|
|
|
|
NM_001267550.2(TTN):c.107965C>T (p.Arg35989Ter)
|
rs770506970
|
|
|
NM_001267550.2(TTN):c.107975A>G (p.Ter35992=)
|
rs2154129758
|
|
|
NM_001267550.2(TTN):c.10799C>A (p.Ser3600Ter)
|
rs374300381
|
|
|
NM_001267550.2(TTN):c.10800A>G (p.Ser3600=)
|
rs2154335039
|
|
|
NM_001267550.2(TTN):c.10815A>T (p.Ser3605=)
|
|
|
|
NM_001267550.2(TTN):c.10825G>T (p.Glu3609Ter)
|
|
|
|
NM_001267550.2(TTN):c.10834G>C (p.Val3612Leu)
|
rs1352067592
|
|
|
NM_001267550.2(TTN):c.10845T>C (p.Ser3615=)
|
rs2087080570
|
|
|
NM_001267550.2(TTN):c.10857T>C (p.Ser3619=)
|
|
|
|
NM_001267550.2(TTN):c.10863C>T (p.Ile3621=)
|
rs879077072
|
|
|
NM_001267550.2(TTN):c.1086A>G (p.Thr362=)
|
rs2154356203
|
|
|
NM_001267550.2(TTN):c.10893G>A (p.Gln3631=)
|
|
|
|
NM_001267550.2(TTN):c.10902T>C (p.His3634=)
|
rs2154334975
|
|
|
NM_001267550.2(TTN):c.10917A>G (p.Ser3639=)
|
rs1384972489
|
|
|
NM_001267550.2(TTN):c.10932C>T (p.Ser3644=)
|
rs2154334960
|
|
|
NM_001267550.2(TTN):c.10950A>G (p.Glu3650=)
|
|
|
|
NM_001267550.2(TTN):c.10953T>C (p.Cys3651=)
|
rs2154334941
|
|
|
NM_001267550.2(TTN):c.10965C>A (p.Ser3655=)
|
|
|
|
NM_001267550.2(TTN):c.10965C>T (p.Ser3655=)
|
rs760281559
|
|
|
NM_001267550.2(TTN):c.10971T>C (p.Gly3657=)
|
|
|
|
NM_001267550.2(TTN):c.1098C>G (p.Thr366=)
|
|
|
|
NM_001267550.2(TTN):c.1098C>T (p.Thr366=)
|
|
|
|
NM_001267550.2(TTN):c.10990C>T (p.Leu3664=)
|
rs1445421739
|
|
|
NM_001267550.2(TTN):c.10C>T (p.Gln4Ter)
|
|
|
|
NM_001267550.2(TTN):c.11001G>A (p.Gln3667=)
|
|
|
|
NM_001267550.2(TTN):c.1101T>C (p.Ser367=)
|
rs2154356195
|
|
|
NM_001267550.2(TTN):c.11022T>C (p.Gly3674=)
|
rs2086987884
|
|
|
NM_001267550.2(TTN):c.11028G>A (p.Thr3676=)
|
|
|
|
NM_001267550.2(TTN):c.11073A>C (p.Val3691=)
|
rs1270392543
|
|
|
NM_001267550.2(TTN):c.11118G>A (p.Leu3706=)
|
rs781238761
|
|
|
NM_001267550.2(TTN):c.11154C>G (p.Thr3718=)
|
rs780358198
|
|
|
NM_001267550.2(TTN):c.11154C>T (p.Thr3718=)
|
|
|
|
NM_001267550.2(TTN):c.11163T>C (p.Asn3721=)
|
|
|
|
NM_001267550.2(TTN):c.11184A>G (p.Gly3728=)
|
|
|
|
NM_001267550.2(TTN):c.11191del (p.Ser3731fs)
|
|
|
|
NM_001267550.2(TTN):c.1119A>G (p.Glu373=)
|
|
|
|
NM_001267550.2(TTN):c.11208T>C (p.Asn3736=)
|
rs138485458
|
|
|
NM_001267550.2(TTN):c.11209G>A (p.Asp3737Asn)
|
rs1243794346
|
|
|
NM_001267550.2(TTN):c.11214T>C (p.Cys3738=)
|
|
|
|
NM_001267550.2(TTN):c.11232A>G (p.Ser3744=)
|
|
|
|
NM_001267550.2(TTN):c.11235A>G (p.Ala3745=)
|
|
|
|
NM_001267550.2(TTN):c.11250A>G (p.Glu3750=)
|
rs2154334742
|
|
|
NM_001267550.2(TTN):c.11252_11253delinsAA (p.Gly3751Glu)
|
rs1553967105
|
|
|
NM_001267550.2(TTN):c.11254+14dup
|
|
|
|
NM_001267550.2(TTN):c.11254+19A>G
|
|
|
|
NM_001267550.2(TTN):c.11255-15G>A
|
|
|
|
NM_001267550.2(TTN):c.11255-16T>C
|
rs2154332319
|
|
|
NM_001267550.2(TTN):c.11255-17A>G
|
|
|
|
NM_001267550.2(TTN):c.11255-17_11255-16del
|
rs72647895
|
|
|
NM_001267550.2(TTN):c.11255-20T>A
|
|
|
|
NM_001267550.2(TTN):c.11255-20T>C
|
rs771343426
|
|
|
NM_001267550.2(TTN):c.11255-21_11255-20del
|
rs2086040495
|
|
|
NM_001267550.2(TTN):c.11255-7A>G
|
rs1044422928
|
|
|
NM_001267550.2(TTN):c.11256T>C (p.Ala3752=)
|
rs375859088
|
|
|
NM_001267550.2(TTN):c.11265A>G (p.Ser3755=)
|
|
|
|
NM_001267550.2(TTN):c.11274T>C (p.His3758=)
|
|
|
|
NM_001267550.2(TTN):c.11280G>A (p.Arg3760=)
|
rs1304982242
|
|
|
NM_001267550.2(TTN):c.11288_11289del (p.Gln3763fs)
|
rs1574322133
|
|
|
NM_001267550.2(TTN):c.1128G>A (p.Trp376Ter)
|
rs932770906
|
|
|
NM_001267550.2(TTN):c.11310del (p.Glu3771fs)
|
rs2086020099
|
|
|
NM_001267550.2(TTN):c.11311+10T>C
|
rs2154332290
|
|
|
NM_001267550.2(TTN):c.11311+15G>A
|
|
|
|
NM_001267550.2(TTN):c.11311+16A>T
|
rs2154332288
|
|
|
NM_001267550.2(TTN):c.11311+1G>T
|
rs1553963537
|
|
|
NM_001267550.2(TTN):c.11312-10C>G
|
|
|
|
NM_001267550.2(TTN):c.11312-11del
|
rs1212087943
|
|
|
NM_001267550.2(TTN):c.11312-16A>G
|
|
|
|
NM_001267550.2(TTN):c.11312-6A>G
|
rs1200157226
|
|
|
NM_001267550.2(TTN):c.11312-7dup
|
|
|
|
NM_001267550.2(TTN):c.11312-8C>T
|
rs374893678
|
|
|
NM_001267550.2(TTN):c.11324C>T (p.Ser3775Phe)
|
rs892763465
|
|
|
NM_001267550.2(TTN):c.11334T>C (p.Ser3778=)
|
rs397517824
|
|
|
NM_001267550.2(TTN):c.11403G>A (p.Leu3801=)
|
|
|
|
NM_001267550.2(TTN):c.1140C>T (p.Tyr380=)
|
|
|
|
NM_001267550.2(TTN):c.11412del (p.Pro3805fs)
|
rs2082534727
|
|
|
NM_001267550.2(TTN):c.11415A>G (p.Pro3805=)
|
rs561157636
|
|
|
NM_001267550.2(TTN):c.11415A>T (p.Pro3805=)
|
rs561157636
|
|
|
NM_001267550.2(TTN):c.11421C>T (p.Tyr3807=)
|
|
|
|
NM_001267550.2(TTN):c.11421_11422delinsGT (p.Tyr3807_Pro3808delinsTer)
|
|
|
|
NM_001267550.2(TTN):c.11444del (p.Lys3815fs)
|
rs1574099951
|
|
|
NM_001267550.2(TTN):c.11454T>C (p.Thr3818=)
|
|
|
|
NM_001267550.2(TTN):c.11469C>T (p.Ile3823=)
|
rs1315854962
|
|
|
NM_001267550.2(TTN):c.1146C>T (p.Val382=)
|
rs2093692656
|
|
|
NM_001267550.2(TTN):c.11475A>G (p.Glu3825=)
|
rs1057523983
|
|
|
NM_001267550.2(TTN):c.11481A>G (p.Ser3827=)
|
rs2154319137
|
|
|
NM_001267550.2(TTN):c.11495del (p.Ser3832fs)
|
|
|
|
NM_001267550.2(TTN):c.11497_11515del (p.Met3833fs)
|
rs2154319069
|
|
|
NM_001267550.2(TTN):c.11508G>C (p.Val3836=)
|
|
|
|
NM_001267550.2(TTN):c.11517G>A (p.Leu3839=)
|
|
|
|
NM_001267550.2(TTN):c.11517G>T (p.Leu3839=)
|
|
|
|
NM_001267550.2(TTN):c.11565T>C (p.Phe3855=)
|
|
|
|
NM_001267550.2(TTN):c.11577A>G (p.Leu3859=)
|
|
|
|
NM_001267550.2(TTN):c.11583C>A (p.Thr3861=)
|
|
|
|
NM_001267550.2(TTN):c.11589T>G (p.Ser3863=)
|
|
|
|
NM_001267550.2(TTN):c.11595C>T (p.Asp3865=)
|
|
|
|
NM_001267550.2(TTN):c.11616T>C (p.Gly3872=)
|
|
|
|
NM_001267550.2(TTN):c.11619T>C (p.Asp3873=)
|
rs879136328
|
|
|
NM_001267550.2(TTN):c.1161C>T (p.Thr387=)
|
rs753484667
|
|
|
NM_001267550.2(TTN):c.11631G>A (p.Leu3877=)
|
|
|
|
NM_001267550.2(TTN):c.11637del (p.Leu3880fs)
|
rs1560926034
|
|
|
NM_001267550.2(TTN):c.11652G>A (p.Leu3884=)
|
|
|
|
NM_001267550.2(TTN):c.11667G>A (p.Glu3889=)
|
rs377423256
|
|
|
NM_001267550.2(TTN):c.11676T>C (p.Cys3892=)
|
rs879119259
|
|
|
NM_001267550.2(TTN):c.11688T>C (p.Asn3896=)
|
|
|
|
NM_001267550.2(TTN):c.1170T>C (p.Gly390=)
|
rs2093691263
|
|
|
NM_001267550.2(TTN):c.11712T>C (p.Ser3904=)
|
rs553478382
|
|
|
NM_001267550.2(TTN):c.11733C>T (p.Ser3911=)
|
|
|
|
NM_001267550.2(TTN):c.11754del (p.Asp3918fs)
|
rs2154318864
|
|
|
NM_001267550.2(TTN):c.1179T>C (p.Gly393=)
|
rs1574927906
|
|
|
NM_001267550.2(TTN):c.11825A>C (p.Lys3942Thr)
|
rs1060500569
|
|
|
NM_001267550.2(TTN):c.11831T>A (p.Leu3944Ter)
|
|
|
|
NM_001267550.2(TTN):c.11843G>T (p.Arg3948Leu)
|
rs775618077
|
|
|
NM_001267550.2(TTN):c.11856G>A (p.Gly3952=)
|
rs1057524094
|
|
|
NM_001267550.2(TTN):c.1185C>A (p.Ala395=)
|
rs372346898
|
|
|
NM_001267550.2(TTN):c.11865C>T (p.Ala3955=)
|
|
|
|
NM_001267550.2(TTN):c.1186G>A (p.Ala396Thr)
|
rs200052202
|
|
|
NM_001267550.2(TTN):c.11871dup (p.Glu3958Ter)
|
rs2082452692
|
|
|
NM_001267550.2(TTN):c.11880dup (p.Val3961fs)
|
|
|
|
NM_001267550.2(TTN):c.11881G>A (p.Val3961Met)
|
rs1017307763
|
|
|
NM_001267550.2(TTN):c.11895T>C (p.Pro3965=)
|
|
|
|
NM_001267550.2(TTN):c.11898C>A (p.Ala3966=)
|
rs2154318780
|
|
|
NM_001267550.2(TTN):c.118T>C (p.Phe40Leu)
|
rs1554045595
|
|
|
NM_001267550.2(TTN):c.11901T>C (p.Pro3967=)
|
rs2154318778
|
|
|
NM_001267550.2(TTN):c.11903C>T (p.Thr3968Ile)
|
rs1416083040
|
|
|
NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter)
|
rs869312102
|
|
|
NM_001267550.2(TTN):c.11913G>A (p.Trp3971Ter)
|
rs749961489
|
|
|
NM_001267550.2(TTN):c.11952C>T (p.Tyr3984=)
|
|
|
|
NM_001267550.2(TTN):c.11959A>G (p.Ile3987Val)
|
rs551387805
|
|
|
NM_001267550.2(TTN):c.12045T>C (p.Asn4015=)
|
|
|
|
NM_001267550.2(TTN):c.12066T>G (p.Cys4022Trp)
|
rs931245340
|
|
|
NM_001267550.2(TTN):c.12069A>G (p.Ala4023=)
|
|
|
|
NM_001267550.2(TTN):c.1206T>G (p.Ala402=)
|
rs1182040505
|
|
|
NM_001267550.2(TTN):c.1206del (p.Ser403fs)
|
|
|
|
NM_001267550.2(TTN):c.12078G>C (p.Leu4026=)
|
rs926556907
|
|
|
NM_001267550.2(TTN):c.12102C>T (p.Asp4034=)
|
rs964514904
|
|
|
NM_001267550.2(TTN):c.12111T>C (p.Asp4037=)
|
|
|
|
NM_001267550.2(TTN):c.12113C>G (p.Thr4038Ser)
|
rs758968807
|
|
|
NM_001267550.2(TTN):c.12114C>T (p.Thr4038=)
|
rs184886891
|
|
|
NM_001267550.2(TTN):c.12117del (p.Cys4040fs)
|
rs1560918374
|
|
|
NM_001267550.2(TTN):c.12129G>A (p.Lys4043=)
|
|
|
|
NM_001267550.2(TTN):c.12168C>T (p.Pro4056=)
|
|
|
|
NM_001267550.2(TTN):c.12180C>T (p.Pro4060=)
|
|
|
|
NM_001267550.2(TTN):c.12198C>T (p.Asp4066=)
|
|
|
|
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter)
|
rs397517830
|
|
|
NM_001267550.2(TTN):c.12218_12222dup (p.Val4075fs)
|
|
|
|
NM_001267550.2(TTN):c.12219G>A (p.Thr4073=)
|
rs145303398
|
|
|
NM_001267550.2(TTN):c.12239del (p.Ile4079_Leu4080insTer)
|
rs2082383767
|
|
|
NM_001267550.2(TTN):c.12249T>C (p.Ala4083=)
|
|
|
|
NM_001267550.2(TTN):c.12251T>G (p.Leu4084Ter)
|
|
|
|
NM_001267550.2(TTN):c.12259G>T (p.Glu4087Ter)
|
rs2154318496
|
|
|
NM_001267550.2(TTN):c.12274C>T (p.Leu4092=)
|
|
|
|
NM_001267550.2(TTN):c.12282T>C (p.Tyr4094=)
|
|
|
|
NM_001267550.2(TTN):c.12289del (p.Ile4097fs)
|
|
|
|
NM_001267550.2(TTN):c.12306A>G (p.Glu4102=)
|
rs2154318476
|
|
|
NM_001267550.2(TTN):c.12307T>C (p.Leu4103=)
|
rs587780988
|
|
|
NM_001267550.2(TTN):c.12309G>A (p.Leu4103=)
|
|
|
|
NM_001267550.2(TTN):c.12312C>T (p.Ser4104=)
|
rs765135653
|
|
|
NM_001267550.2(TTN):c.12316C>T (p.Gln4106Ter)
|
rs1553940122
|
|
|
NM_001267550.2(TTN):c.12319del (p.Leu4107fs)
|
rs2154318463
|
|
|
NM_001267550.2(TTN):c.12333T>A (p.Ala4111=)
|
rs1574086245
|
|
|
NM_001267550.2(TTN):c.12345A>G (p.Gln4115=)
|
|
|
|
NM_001267550.2(TTN):c.12345del (p.Gln4115fs)
|
|
|
|
NM_001267550.2(TTN):c.12357G>A (p.Glu4119=)
|
|
|
|
NM_001267550.2(TTN):c.12358C>T (p.Gln4120Ter)
|
rs746184552
|
|
|
NM_001267550.2(TTN):c.12381C>T (p.Ser4127=)
|
|
|
|
NM_001267550.2(TTN):c.12397_12505dup (p.Pro4169fs)
|
rs1553939638
|
|
|
NM_001267550.2(TTN):c.1239T>C (p.Ala413=)
|
rs2154356147
|
|
|
NM_001267550.2(TTN):c.12405del (p.Asn4135fs)
|
rs727503658
|
|
|
NM_001267550.2(TTN):c.12408C>G (p.Gly4136=)
|
rs760021087
|
|
|
NM_001267550.2(TTN):c.12423G>A (p.Gln4141=)
|
rs1310898352
|
|
|
NM_001267550.2(TTN):c.12426T>A (p.Pro4142=)
|
|
|
|
NM_001267550.2(TTN):c.12438A>C (p.Pro4146=)
|
rs1035337206
|
|
|
NM_001267550.2(TTN):c.1245+10G>T
|
|
|
|
NM_001267550.2(TTN):c.12451C>T (p.Gln4151Ter)
|
|
|
|
NM_001267550.2(TTN):c.1246-13A>G
|
|
|
|
NM_001267550.2(TTN):c.1246-17G>C
|
|
|
|
NM_001267550.2(TTN):c.1246-2A>G
|
rs2154355995
|
|
|
NM_001267550.2(TTN):c.1246-5T>C
|
rs727503707
|
|
|
NM_001267550.2(TTN):c.12465A>G (p.Val4155=)
|
rs2154318367
|
|
|
NM_001267550.2(TTN):c.12472C>T (p.Gln4158Ter)
|
rs745720217
|
|
|
NM_001267550.2(TTN):c.12477A>G (p.Lys4159=)
|
|
|
|
NM_001267550.2(TTN):c.12478del (p.Thr4160fs)
|
rs2154318358
|
|
|
NM_001267550.2(TTN):c.12482del (p.Phe4161fs)
|
|
|
|
NM_001267550.2(TTN):c.12501A>C (p.Leu4167=)
|
rs2154318340
|
|
|
NM_001267550.2(TTN):c.12519G>A (p.Glu4173=)
|
|
|
|
NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs)
|
rs1553939605
|
|
|
NM_001267550.2(TTN):c.1252C>T (p.Gln418Ter)
|
|
|
|
NM_001267550.2(TTN):c.12540T>C (p.Asp4180=)
|
|
|
|
NM_001267550.2(TTN):c.12564C>T (p.Ala4188=)
|
rs547338168
|
|
|
NM_001267550.2(TTN):c.12583_12586del (p.Asn4195fs)
|
rs2082328931
|
|
|
NM_001267550.2(TTN):c.12597T>C (p.Val4199=)
|
|
|
|
NM_001267550.2(TTN):c.12604C>T (p.Leu4202=)
|
|
|
|
NM_001267550.2(TTN):c.12612_12625del (p.Thr4204_Leu4205insTer)
|
rs1574081963
|
|
|
NM_001267550.2(TTN):c.12633G>C (p.Gly4211=)
|
|
|
|
NM_001267550.2(TTN):c.12639T>C (p.Tyr4213=)
|
rs2082319055
|
|
|
NM_001267550.2(TTN):c.12643_12644del (p.Gln4215fs)
|
rs869312038
|
|
|
NM_001267550.2(TTN):c.12651A>G (p.Ser4217=)
|
rs766575722
|
|
|
NM_001267550.2(TTN):c.12679A>T (p.Thr4227Ser)
|
rs1553939161
|
|
|
NM_001267550.2(TTN):c.12680C>A (p.Thr4227Asn)
|
rs777055785
|
|
|
NM_001267550.2(TTN):c.12704C>A (p.Ser4235Ter)
|
rs1253161767
|
|
|
NM_001267550.2(TTN):c.12705A>G (p.Ser4235=)
|
rs2154318215
|
|
|
NM_001267550.2(TTN):c.12729C>T (p.Asp4243=)
|
|
|
|
NM_001267550.2(TTN):c.12735C>T (p.Asn4245=)
|
|
|
|
NM_001267550.2(TTN):c.12742C>T (p.Gln4248Ter)
|
rs794729308
|
|
|
NM_001267550.2(TTN):c.12744_12745del (p.Arg4249fs)
|
rs2154318180
|
|
|
NM_001267550.2(TTN):c.12754_12755del (p.Leu4252fs)
|
|
|
|
NM_001267550.2(TTN):c.12766G>A (p.Glu4256Lys)
|
rs1560908997
|
|
|
NM_001267550.2(TTN):c.12777T>C (p.Ser4259=)
|
rs1301290217
|
|
|
NM_001267550.2(TTN):c.12780G>A (p.Ala4260=)
|
rs746578
|
|
|
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=)
|
rs746578
|
|
|
NM_001267550.2(TTN):c.12813C>T (p.His4271=)
|
rs373302409
|
|
|
NM_001267550.2(TTN):c.12817G>A (p.Glu4273Lys)
|
rs1553938808
|
|
|
NM_001267550.2(TTN):c.12819G>A (p.Glu4273=)
|
|
|
|
NM_001267550.2(TTN):c.1281G>A (p.Ala427=)
|
rs569584999
|
|
|
NM_001267550.2(TTN):c.12823C>T (p.Leu4275Phe)
|
rs773905874
|
|
|
NM_001267550.2(TTN):c.12834T>G (p.Pro4278=)
|
rs1445588727
|
|
|
NM_001267550.2(TTN):c.12837T>C (p.Asp4279=)
|
rs762681376
|
|
|
NM_001267550.2(TTN):c.12850C>T (p.Gln4284Ter)
|
rs2082282118
|
|
|
NM_001267550.2(TTN):c.12855A>G (p.Val4285=)
|
rs921588705
|
|
|
NM_001267550.2(TTN):c.12867C>T (p.Pro4289=)
|
|
|
|
NM_001267550.2(TTN):c.12869del (p.Leu4290fs)
|
|
|
|
NM_001267550.2(TTN):c.12870dup (p.Val4291fs)
|
rs869025556
|
|
|
NM_001267550.2(TTN):c.12887C>A (p.Ser4296Ter)
|
|
|
|
NM_001267550.2(TTN):c.12891C>A (p.Cys4297Ter)
|
|
|
|
NM_001267550.2(TTN):c.12894A>G (p.Thr4298=)
|
|
|
|
NM_001267550.2(TTN):c.12895G>C (p.Glu4299Gln)
|
rs1430420761
|
|
|
NM_001267550.2(TTN):c.12897dup (p.Gly4300fs)
|
rs2082273335
|
|
|
NM_001267550.2(TTN):c.12910T>C (p.Leu4304=)
|
rs754169563
|
|
|
NM_001267550.2(TTN):c.12918A>G (p.Glu4306=)
|
rs1574077933
|
|
|
NM_001267550.2(TTN):c.12921T>C (p.Ser4307=)
|
rs1490439391
|
|
|
NM_001267550.2(TTN):c.12937A>G (p.Asn4313Asp)
|
rs1553938408
|
|
|
NM_001267550.2(TTN):c.12942A>G (p.Ala4314=)
|
rs1574077557
|
|
|
NM_001267550.2(TTN):c.12943_12950dup (p.Asp4317fs)
|
|
|
|
NM_001267550.2(TTN):c.12948A>G (p.Gln4316=)
|
|
|
|
NM_001267550.2(TTN):c.12954T>C (p.Ser4318=)
|
|
|
|
NM_001267550.2(TTN):c.12957G>T (p.Ala4319=)
|
rs762330685
|
|
|
NM_001267550.2(TTN):c.1296del (p.Val433fs)
|
rs2093669726
|
|
|
NM_001267550.2(TTN):c.12972del (p.Gly4325fs)
|
rs2082260794
|
|
|
NM_001267550.2(TTN):c.12975C>G (p.Gly4325=)
|
|
|
|
NM_001267550.2(TTN):c.12981C>G (p.Ser4327=)
|
rs1553938292
|
|
|
NM_001267550.2(TTN):c.12996A>G (p.Leu4332=)
|
rs1574076836
|
|
|
NM_001267550.2(TTN):c.12999A>C (p.Ala4333=)
|
rs998243378
|
|
|
NM_001267550.2(TTN):c.13017A>G (p.Val4339=)
|
rs2154318035
|
|
|
NM_001267550.2(TTN):c.13017A>T (p.Val4339=)
|
rs2154318035
|
|
|
NM_001267550.2(TTN):c.13023C>T (p.Leu4341=)
|
rs377195944
|
|
|
NM_001267550.2(TTN):c.13029A>G (p.Glu4343=)
|
|
|
|
NM_001267550.2(TTN):c.13058del (p.Pro4353fs)
|
rs1408345511
|
|
|
NM_001267550.2(TTN):c.13062C>T (p.Asp4354=)
|
rs1553938075
|
|
|
NM_001267550.2(TTN):c.13072G>T (p.Glu4358Ter)
|
rs757979946
|
|
|
NM_001267550.2(TTN):c.13075T>C (p.Ser4359Pro)
|
rs1060500434
|
|
|
NM_001267550.2(TTN):c.13077T>C (p.Ser4359=)
|
|
|
|
NM_001267550.2(TTN):c.13083del (p.Glu4362fs)
|
rs2154317986
|
|
|
NM_001267550.2(TTN):c.13085_13086del (p.Glu4362fs)
|
rs2154317985
|
|
|
NM_001267550.2(TTN):c.13089C>A (p.Pro4363=)
|
rs555324138
|
|
|
NM_001267550.2(TTN):c.1308C>T (p.Ala436=)
|
|
|
|
NM_001267550.2(TTN):c.13095A>G (p.Ala4365=)
|
|
|
|
NM_001267550.2(TTN):c.13102_13105del (p.Lys4368fs)
|
rs1553937967
|
|
|
NM_001267550.2(TTN):c.13115_13118dup (p.Gln4373fs)
|
|
|
|
NM_001267550.2(TTN):c.13117C>T (p.Gln4373Ter)
|
rs1064793411
|
|
|
NM_001267550.2(TTN):c.13127dup (p.Asp4376fs)
|
rs2082227467
|
|
|
NM_001267550.2(TTN):c.13144dup (p.Ser4382fs)
|
rs1560902834
|
|
|
NM_001267550.2(TTN):c.1314G>T (p.Val438=)
|
rs565472070
|
|
|
NM_001267550.2(TTN):c.13152T>G (p.Leu4384=)
|
|
|
|
NM_001267550.2(TTN):c.13155T>C (p.Ser4385=)
|
rs1574074373
|
|
|
NM_001267550.2(TTN):c.13157del (p.Gly4386fs)
|
|
|
|
NM_001267550.2(TTN):c.13167A>G (p.Glu4389=)
|
rs2154317934
|
|
|
NM_001267550.2(TTN):c.1318G>A (p.Glu440Lys)
|
rs747410439
|
|
|
NM_001267550.2(TTN):c.13191T>A (p.Ile4397=)
|
|
|
|
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=)
|
rs375347596
|
|
|
NM_001267550.2(TTN):c.13201del (p.Arg4401fs)
|
|
|
|
NM_001267550.2(TTN):c.1323A>G (p.Pro441=)
|
rs770102555
|
|
|
NM_001267550.2(TTN):c.13251G>A (p.Glu4417=)
|
rs879188386
|
|
|
NM_001267550.2(TTN):c.13260A>G (p.Arg4420=)
|
|
|
|
NM_001267550.2(TTN):c.13265T>G (p.Ile4422Ser)
|
rs727503656
|
|
|
NM_001267550.2(TTN):c.13278G>A (p.Glu4426=)
|
rs2154317872
|
|
|
NM_001267550.2(TTN):c.13293C>T (p.Asn4431=)
|
rs1574072620
|
|
|
NM_001267550.2(TTN):c.1329C>T (p.Ile443=)
|
|
|
|
NM_001267550.2(TTN):c.13302A>G (p.Gln4434=)
|
|
|
|
NM_001267550.2(TTN):c.13329C>G (p.Tyr4443Ter)
|
|
|
|
NM_001267550.2(TTN):c.13329C>T (p.Tyr4443=)
|
rs2082191056
|
|
|
NM_001267550.2(TTN):c.13335del (p.Thr4446fs)
|
|
|
|
NM_001267550.2(TTN):c.13340C>A (p.Ser4447Ter)
|
|
|
|
NM_001267550.2(TTN):c.13344A>T (p.Ala4448=)
|
|
|
|
NM_001267550.2(TTN):c.13347G>A (p.Lys4449=)
|
|
|
|
NM_001267550.2(TTN):c.13356A>C (p.Thr4452=)
|
rs992796171
|
|
|
NM_001267550.2(TTN):c.13371C>A (p.Ile4457=)
|
rs570991398
|
|
|
NM_001267550.2(TTN):c.13382_13383del (p.Asp4461fs)
|
|
|
|
NM_001267550.2(TTN):c.13383T>C (p.Asp4461=)
|
|
|
|
NM_001267550.2(TTN):c.13397del (p.Met4466fs)
|
|
|
|
NM_001267550.2(TTN):c.13401T>A (p.Ala4467=)
|
rs2154317797
|
|
|
NM_001267550.2(TTN):c.13404C>T (p.Asn4468=)
|
|
|
|
NM_001267550.2(TTN):c.13408A>T (p.Lys4470Ter)
|
rs903809826
|
|
|
NM_001267550.2(TTN):c.13431G>A (p.Leu4477=)
|
|
|
|
NM_001267550.2(TTN):c.13434T>C (p.Cys4478=)
|
rs2154317785
|
|
|
NM_001267550.2(TTN):c.13435G>A (p.Ala4479Thr)
|
rs776871094
|
|
|
NM_001267550.2(TTN):c.13440T>C (p.Ile4480=)
|
|
|
|
NM_001267550.2(TTN):c.13446T>A (p.Tyr4482Ter)
|
|
|
|
NM_001267550.2(TTN):c.13446T>G (p.Tyr4482Ter)
|
|
|
|
NM_001267550.2(TTN):c.13450del (p.Glu4484fs)
|
rs2082158844
|
|
|
NM_001267550.2(TTN):c.13459A>G (p.Ile4487Val)
|
rs1553937057
|
|
|
NM_001267550.2(TTN):c.13464A>C (p.Leu4488=)
|
rs2154317755
|
|
|
NM_001267550.2(TTN):c.13487A>G (p.Gln4496Arg)
|
rs878854287
|
|
|
NM_001267550.2(TTN):c.13497C>T (p.Ala4499=)
|
rs1574070055
|
|
|
NM_001267550.2(TTN):c.13525del (p.Ser4509fs)
|
rs1553936898
|
|
|
NM_001267550.2(TTN):c.13530T>C (p.Phe4510=)
|
rs764801931
|
|
|
NM_001267550.2(TTN):c.13533A>G (p.Ser4511=)
|
|
|
|
NM_001267550.2(TTN):c.13540C>T (p.Gln4514Ter)
|
|
|
|
NM_001267550.2(TTN):c.1356G>A (p.Arg452=)
|
rs2154355952
|
|
|
NM_001267550.2(TTN):c.13575A>G (p.Glu4525=)
|
|
|
|
NM_001267550.2(TTN):c.13608T>C (p.Ser4536=)
|
|
|
|
NM_001267550.2(TTN):c.13611T>C (p.Tyr4537=)
|
rs2154317669
|
|
|
NM_001267550.2(TTN):c.13621C>T (p.Gln4541Ter)
|
rs2154317658
|
|
|
NM_001267550.2(TTN):c.1362C>A (p.Thr454=)
|
|
|
|
NM_001267550.2(TTN):c.1368T>C (p.Thr456=)
|
|
|
|
NM_001267550.2(TTN):c.13701T>G (p.Asp4567Glu)
|
rs200422152
|
|
|
NM_001267550.2(TTN):c.13720G>T (p.Glu4574Ter)
|
rs2154317609
|
|
|
NM_001267550.2(TTN):c.13729G>T (p.Glu4577Ter)
|
|
|
|
NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)
|
|
|
|
NM_001267550.2(TTN):c.13740C>G (p.Ser4580=)
|
|
|
|
NM_001267550.2(TTN):c.13755T>C (p.Thr4585=)
|
rs2154317575
|
|
|
NM_001267550.2(TTN):c.13759_13772delinsTTCTTTGTTATTTTTAAACCAAGTAACCTGGATCACAGGTGAGCCTTTCAGCTTGCAATGGAGGCGTGCTGATTCACCTGGGAGCATTAAATAAGAGGGATCCACCTTCTTCACGAAGGATGGTGGCTCTACATGAAGTTTACAAA (p.Glu4587_Val4591delinsPhePheValIlePheLysProSerAsnLeuAspHisArgTer)
|
|
|
|
NM_001267550.2(TTN):c.13760del (p.Glu4587fs)
|
rs1266489077
|
|
|
NM_001267550.2(TTN):c.13761G>A (p.Glu4587=)
|
|
|
|
NM_001267550.2(TTN):c.13812T>C (p.Asp4604=)
|
rs2154317542
|
|
|
NM_001267550.2(TTN):c.13817_13818dup (p.Met4607fs)
|
|
|
|
NM_001267550.2(TTN):c.1381C>T (p.Gln461Ter)
|
|
|
|
NM_001267550.2(TTN):c.13821G>T (p.Met4607Ile)
|
rs1553936266
|
|
|
NM_001267550.2(TTN):c.13838_13839del (p.Val4613fs)
|
rs2154317516
|
|
|
NM_001267550.2(TTN):c.13878A>C (p.Thr4626=)
|
|
|
|
NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter)
|
rs869312103
|
|
|
NM_001267550.2(TTN):c.13911G>A (p.Trp4637Ter)
|
|
|
|
NM_001267550.2(TTN):c.13914T>A (p.Tyr4638Ter)
|
rs794729388
|
|
|
NM_001267550.2(TTN):c.13932G>A (p.Val4644=)
|
|
|
|
NM_001267550.2(TTN):c.13932G>T (p.Val4644=)
|
|
|
|
NM_001267550.2(TTN):c.13934C>A (p.Pro4645His)
|
rs1553936055
|
|
|
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter)
|
rs1313233245
|
|
|
NM_001267550.2(TTN):c.13943_13947dup (p.Phe4650fs)
|
rs767038068
|
|
|
NM_001267550.2(TTN):c.13945A>G (p.Lys4649Glu)
|
rs1060500392
|
|
|
NM_001267550.2(TTN):c.13947G>A (p.Lys4649=)
|
|
|
|
NM_001267550.2(TTN):c.13966C>T (p.Gln4656Ter)
|
rs747289468
|
|
|
NM_001267550.2(TTN):c.13974A>G (p.Thr4658=)
|
|
|
|
NM_001267550.2(TTN):c.13977T>C (p.Tyr4659=)
|
rs1197328423
|
|
|
NM_001267550.2(TTN):c.1398+12G>C
|
rs1033605445
|
|
|
NM_001267550.2(TTN):c.1398+1G>A
|
|
|
|
NM_001267550.2(TTN):c.1398+20G>T
|
|
|
|
NM_001267550.2(TTN):c.1398+320_1624del
|
|
|
|
NM_001267550.2(TTN):c.13980G>T (p.Thr4660=)
|
|
|
|
NM_001267550.2(TTN):c.13989C>A (p.Ile4663=)
|
rs1361452637
|
|
|
NM_001267550.2(TTN):c.1399-4G>A
|
rs2093621290
|
|
|
NM_001267550.2(TTN):c.1399-4G>T
|
rs2093621290
|
|
|
NM_001267550.2(TTN):c.13998A>G (p.Val4666=)
|
rs2082056467
|
|
|
NM_001267550.2(TTN):c.14014C>A (p.Gln4672Lys)
|
rs1553935908
|
|
|
NM_001267550.2(TTN):c.1402A>C (p.Arg468=)
|
rs1554033812
|
|
|
NM_001267550.2(TTN):c.14082A>G (p.Val4694=)
|
|
|
|
NM_001267550.2(TTN):c.14092+12A>G
|
|
|
|
NM_001267550.2(TTN):c.14092+15A>T
|
|
|
|
NM_001267550.2(TTN):c.14092+1G>A
|
|
|
|
NM_001267550.2(TTN):c.14092+20del
|
rs560021681
|
|
|
NM_001267550.2(TTN):c.14092+7T>C
|
rs2154317357
|
|
|
NM_001267550.2(TTN):c.14093-10C>T
|
|
|
|
NM_001267550.2(TTN):c.14093-8C>T
|
|
|
|
NM_001267550.2(TTN):c.14103G>A (p.Val4701=)
|
rs1574052378
|
|
|
NM_001267550.2(TTN):c.1410A>G (p.Glu470=)
|
|
|
|
NM_001267550.2(TTN):c.14118C>G (p.Ile4706Met)
|
rs267599072
|
|
|
NM_001267550.2(TTN):c.14118C>T (p.Ile4706=)
|
rs267599072
|
|
|
NM_001267550.2(TTN):c.14121A>G (p.Glu4707=)
|
|
|
|
NM_001267550.2(TTN):c.14137C>T (p.Leu4713=)
|
|
|
|
NM_001267550.2(TTN):c.14139G>A (p.Leu4713=)
|
rs1238228734
|
|
|
NM_001267550.2(TTN):c.14142C>T (p.Gly4714=)
|
rs1574051689
|
|
|
NM_001267550.2(TTN):c.14169C>A (p.Ile4723=)
|
|
|
|
NM_001267550.2(TTN):c.14171A>G (p.Gln4724Arg)
|
rs1553934896
|
|
|
NM_001267550.2(TTN):c.14178T>C (p.Ala4726=)
|
rs2154316736
|
|
|
NM_001267550.2(TTN):c.1417A>T (p.Lys473Ter)
|
rs2154355442
|
|
|
NM_001267550.2(TTN):c.14188C>A (p.Arg4730=)
|
rs749719834
|
|
|
NM_001267550.2(TTN):c.14198G>A (p.Trp4733Ter)
|
rs1574050861
|
|
|
NM_001267550.2(TTN):c.14202T>C (p.Phe4734=)
|
rs2154316716
|
|
|
NM_001267550.2(TTN):c.14212C>A (p.Arg4738=)
|
rs1311308523
|
|
|
NM_001267550.2(TTN):c.14212C>T (p.Arg4738Ter)
|
|
|
|
NM_001267550.2(TTN):c.14226G>A (p.Glu4742=)
|
|
|
|
NM_001267550.2(TTN):c.1422T>A (p.Thr474=)
|
rs1264009657
|
|
|
NM_001267550.2(TTN):c.14241T>C (p.Ser4747=)
|
|
|
|
NM_001267550.2(TTN):c.14245C>T (p.Arg4749Ter)
|
rs1553934752
|
|
|
NM_001267550.2(TTN):c.14287del (p.Gln4763fs)
|
rs1560880125
|
|
|
NM_001267550.2(TTN):c.14301C>A (p.Cys4767Ter)
|
|
|
|
NM_001267550.2(TTN):c.14301C>T (p.Cys4767=)
|
rs1217230000
|
|
|
NM_001267550.2(TTN):c.14307G>A (p.Glu4769=)
|
|
|
|
NM_001267550.2(TTN):c.14310T>A (p.Tyr4770Ter)
|
|
|
|
NM_001267550.2(TTN):c.14320G>A (p.Ala4774Thr)
|
rs1404878972
|
|
|
NM_001267550.2(TTN):c.14337_14341dup (p.Val4781fs)
|
rs2154316604
|
|
|
NM_001267550.2(TTN):c.1434G>A (p.Lys478=)
|
|
|
|
NM_001267550.2(TTN):c.14355C>T (p.Ala4785=)
|
rs1198752367
|
|
|
NM_001267550.2(TTN):c.14361A>G (p.Leu4787=)
|
rs2154316589
|
|
|
NM_001267550.2(TTN):c.14367G>C (p.Val4789=)
|
rs2154316583
|
|
|
NM_001267550.2(TTN):c.14367_14368insT (p.Thr4790fs)
|
|
|
|
NM_001267550.2(TTN):c.14371+11T>C
|
|
|
|
NM_001267550.2(TTN):c.14371+13C>T
|
|
|
|
NM_001267550.2(TTN):c.14371+15T>G
|
|
|
|
NM_001267550.2(TTN):c.14371+20A>G
|
|
|
|
NM_001267550.2(TTN):c.14371+3A>G
|
rs2154316576
|
|
|
NM_001267550.2(TTN):c.14371+8C>G
|
|
|
|
NM_001267550.2(TTN):c.14371+8C>T
|
rs751432909
|
|
|
NM_001267550.2(TTN):c.14371G>A (p.Glu4791Lys)
|
|
|
|
NM_001267550.2(TTN):c.14372-11T>C
|
|
|
|
NM_001267550.2(TTN):c.14372-13del
|
rs773125043
|
|
|
NM_001267550.2(TTN):c.14372-2A>C
|
rs747942388
|
|
|
NM_001267550.2(TTN):c.14372-2A>G
|
|
|
|
NM_001267550.2(TTN):c.14372-9C>T
|
|
|
|
NM_001267550.2(TTN):c.14376A>T (p.Ala4792=)
|
rs2154314578
|
|
|
NM_001267550.2(TTN):c.14379T>C (p.Tyr4793=)
|
rs2154314574
|
|
|
NM_001267550.2(TTN):c.14409C>G (p.Ser4803=)
|
|
|
|
NM_001267550.2(TTN):c.1443G>C (p.Val481=)
|
|
|
|
NM_001267550.2(TTN):c.14452dup (p.Val4818fs)
|
rs2154314529
|
|
|
NM_001267550.2(TTN):c.14466T>G (p.Pro4822=)
|
rs2154314521
|
|
|
NM_001267550.2(TTN):c.1446C>A (p.Ala482=)
|
rs183258737
|
|
|
NM_001267550.2(TTN):c.14472A>C (p.Ile4824=)
|
rs794729603
|
|
|
NM_001267550.2(TTN):c.14476del (p.Thr4826fs)
|
rs1220176907
|
|
|
NM_001267550.2(TTN):c.14484G>A (p.Trp4828Ter)
|
|
|
|
NM_001267550.2(TTN):c.14493T>C (p.Asp4831=)
|
|
|
|
NM_001267550.2(TTN):c.14510C>G (p.Pro4837Arg)
|
|
|
|
NM_001267550.2(TTN):c.14513_14517del (p.Pro4837_Ser4838insTer)
|
rs2154314476
|
|
|
NM_001267550.2(TTN):c.14514A>G (p.Ser4838=)
|
rs2154314479
|
|
|
NM_001267550.2(TTN):c.14532C>T (p.Ser4844=)
|
rs977012928
|
|
|
NM_001267550.2(TTN):c.14553T>C (p.Ile4851=)
|
|
|
|
NM_001267550.2(TTN):c.14568C>T (p.Asn4856=)
|
rs774681207
|
|
|
NM_001267550.2(TTN):c.14583T>C (p.Asp4861=)
|
rs1317422659
|
|
|
NM_001267550.2(TTN):c.14616G>A (p.Lys4872=)
|
rs771719584
|
|
|
NM_001267550.2(TTN):c.14640A>G (p.Ala4880=)
|
|
|
|
NM_001267550.2(TTN):c.14643G>A (p.Glu4881=)
|
rs781644443
|
|
|
NM_001267550.2(TTN):c.14649C>A (p.Ile4883=)
|
|
|
|
NM_001267550.2(TTN):c.14676del (p.Glu4893fs)
|
|
|
|
NM_001267550.2(TTN):c.14703C>T (p.Ile4901=)
|
rs199908911
|
|
|
NM_001267550.2(TTN):c.14709G>C (p.Lys4903Asn)
|
rs1060500444
|
|
|
NM_001267550.2(TTN):c.1470del (p.Glu490fs)
|
rs2093617332
|
|
|
NM_001267550.2(TTN):c.14710A>T (p.Lys4904Ter)
|
rs1560853002
|
|
|
NM_001267550.2(TTN):c.14713G>T (p.Val4905Phe)
|
rs774495507
|
|
|
NM_001267550.2(TTN):c.14753C>T (p.Thr4918Ile)
|
rs749179515
|
|
|
NM_001267550.2(TTN):c.14760G>A (p.Thr4920=)
|
|
|
|
NM_001267550.2(TTN):c.14772T>C (p.Asp4924=)
|
|
|
|
NM_001267550.2(TTN):c.14775G>A (p.Gly4925=)
|
rs755413215
|
|
|
NM_001267550.2(TTN):c.14775G>C (p.Gly4925=)
|
rs755413215
|
|
|
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=)
|
rs373875040
|
|
|
NM_001267550.2(TTN):c.14784C>G (p.Leu4928=)
|
|
|
|
NM_001267550.2(TTN):c.14784C>T (p.Leu4928=)
|
rs373875040
|
|
|
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr)
|
rs201744218
|
|
|
NM_001267550.2(TTN):c.14788C>G (p.Pro4930Ala)
|
rs201744218
|
|
|
NM_001267550.2(TTN):c.14799T>C (p.Asp4933=)
|
|
|
|
NM_001267550.2(TTN):c.14850C>T (p.Ala4950=)
|
rs376339761
|
|
|
NM_001267550.2(TTN):c.14854C>T (p.Leu4952=)
|
rs781546825
|
|
|
NM_001267550.2(TTN):c.14865A>G (p.Ser4955=)
|
|
|
|
NM_001267550.2(TTN):c.14871C>A (p.Thr4957=)
|
rs779268926
|
|
|
NM_001267550.2(TTN):c.14871C>T (p.Thr4957=)
|
rs779268926
|
|
|
NM_001267550.2(TTN):c.14874T>C (p.Tyr4958=)
|
|
|
|
NM_001267550.2(TTN):c.14931C>A (p.Val4977=)
|
rs1447072234
|
|
|
NM_001267550.2(TTN):c.14931C>G (p.Val4977=)
|
|
|
|
NM_001267550.2(TTN):c.14932A>C (p.Arg4978=)
|
rs762017458
|
|
|
NM_001267550.2(TTN):c.14935+17T>C
|
|
|
|
NM_001267550.2(TTN):c.14936-13A>G
|
|
|
|
NM_001267550.2(TTN):c.14936-15G>C
|
|
|
|
NM_001267550.2(TTN):c.14936-18T>C
|
rs1578219425
|
|
|
NM_001267550.2(TTN):c.14982C>T (p.Leu4994=)
|
rs2154313291
|
|
|
NM_001267550.2(TTN):c.14985A>C (p.Pro4995=)
|
rs760725256
|
|
|
NM_001267550.2(TTN):c.14985A>G (p.Pro4995=)
|
|
|
|
NM_001267550.2(TTN):c.15007T>A (p.Cys5003Ser)
|
rs1553930348
|
|
|
NM_001267550.2(TTN):c.15009C>T (p.Cys5003=)
|
|
|
|
NM_001267550.2(TTN):c.1506G>A (p.Lys502=)
|
rs757142612
|
|
|
NM_001267550.2(TTN):c.150T>G (p.Thr50=)
|
rs2154359873
|
|
|
NM_001267550.2(TTN):c.15108G>A (p.Glu5036=)
|
|
|
|
NM_001267550.2(TTN):c.15129T>C (p.Asp5043=)
|
rs2081155591
|
|
|
NM_001267550.2(TTN):c.15132A>G (p.Val5044=)
|
|
|
|
NM_001267550.2(TTN):c.15159A>G (p.Ser5053=)
|
rs2154313030
|
|
|
NM_001267550.2(TTN):c.1515G>A (p.Gln505=)
|
|
|
|
NM_001267550.2(TTN):c.15177C>A (p.Asp5059Glu)
|
rs74607159
|
|
|
NM_001267550.2(TTN):c.15177_15181delinsAGTACT (p.Asp5059fs)
|
|
|
|
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile)
|
rs72648929
|
|
|
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)
|
rs72648929
|
|
|
NM_001267550.2(TTN):c.15181G>T (p.Gly5061Cys)
|
rs1441268700
|
|
|
NM_001267550.2(TTN):c.151C>T (p.Leu51=)
|
rs397517489
|
|
|
NM_001267550.2(TTN):c.15217+20A>G
|
|
|
|
NM_001267550.2(TTN):c.15218-15T>C
|
|
|
|
NM_001267550.2(TTN):c.15218-17C>A
|
|
|
|
NM_001267550.2(TTN):c.15218-19T>A
|
|
|
|
NM_001267550.2(TTN):c.15218-20dup
|
|
|
|
NM_001267550.2(TTN):c.15218-2A>G
|
rs1004898711
|
|
|
NM_001267550.2(TTN):c.15218-7T>G
|
|
|
|
NM_001267550.2(TTN):c.15222T>G (p.Pro5074=)
|
rs2154312693
|
|
|
NM_001267550.2(TTN):c.15224C>T (p.Pro5075Leu)
|
rs1553929816
|
|
|
NM_001267550.2(TTN):c.15246G>A (p.Glu5082=)
|
|
|
|
NM_001267550.2(TTN):c.15252A>C (p.Ala5084=)
|
|
|
|
NM_001267550.2(TTN):c.15263G>A (p.Arg5088Lys)
|
rs766300782
|
|
|
NM_001267550.2(TTN):c.15267A>T (p.Gly5089=)
|
|
|
|
NM_001267550.2(TTN):c.15277C>G (p.Leu5093Val)
|
rs764663290
|
|
|
NM_001267550.2(TTN):c.15277C>T (p.Leu5093=)
|
rs764663290
|
|
|
NM_001267550.2(TTN):c.15285G>A (p.Gln5095=)
|
|
|
|
NM_001267550.2(TTN):c.15321C>T (p.Ser5107=)
|
|
|
|
NM_001267550.2(TTN):c.15324G>A (p.Trp5108Ter)
|
rs755339616
|
|
|
NM_001267550.2(TTN):c.15339A>G (p.Lys5113=)
|
rs923024807
|
|
|
NM_001267550.2(TTN):c.15346C>A (p.Arg5116=)
|
|
|
|
NM_001267550.2(TTN):c.15351T>C (p.Ser5117=)
|
|
|
|
NM_001267550.2(TTN):c.15354T>C (p.Ser5118=)
|
rs964395276
|
|
|
NM_001267550.2(TTN):c.1536+1G>A
|
rs2093614668
|
|
|
NM_001267550.2(TTN):c.1536+1G>T
|
|
|
|
NM_001267550.2(TTN):c.1536+3G>A
|
rs1414333301
|
|
|
NM_001267550.2(TTN):c.15366A>G (p.Arg5122=)
|
|
|
|
NM_001267550.2(TTN):c.1537-19C>A
|
|
|
|
NM_001267550.2(TTN):c.1537-1G>C
|
|
|
|
NM_001267550.2(TTN):c.1537-20dup
|
|
|
|
NM_001267550.2(TTN):c.15384T>C (p.Ser5128=)
|
rs1578210544
|
|
|
NM_001267550.2(TTN):c.15387T>C (p.Leu5129=)
|
|
|
|
NM_001267550.2(TTN):c.15402C>A (p.Ile5134=)
|
|
|
|
NM_001267550.2(TTN):c.15420A>C (p.Ala5140=)
|
|
|
|
NM_001267550.2(TTN):c.15435T>C (p.Tyr5145=)
|
rs1560836521
|
|
|
NM_001267550.2(TTN):c.15459C>G (p.Val5153=)
|
|
|
|
NM_001267550.2(TTN):c.1545_1549del (p.Lys515fs)
|
|
|
|
NM_001267550.2(TTN):c.15464A>C (p.Lys5155Thr)
|
rs727504207
|
|
|
NM_001267550.2(TTN):c.15475A>G (p.Met5159Val)
|
rs1553929310
|
|
|
NM_001267550.2(TTN):c.15489A>G (p.Leu5163=)
|
rs2154312230
|
|
|
NM_001267550.2(TTN):c.15492C>G (p.Leu5164=)
|
|
|
|
NM_001267550.2(TTN):c.15496+17C>T
|
|
|
|
NM_001267550.2(TTN):c.15496+1G>A
|
rs397517481
|
|
|
NM_001267550.2(TTN):c.15496+1G>T
|
rs397517481
|
|
|
NM_001267550.2(TTN):c.15496+20A>G
|
|
|
|
NM_001267550.2(TTN):c.15496+20del
|
|
|
|
NM_001267550.2(TTN):c.15496+4A>G
|
|
|
|
NM_001267550.2(TTN):c.15496+5G>C
|
|
|
|
NM_001267550.2(TTN):c.15496+7G>T
|
rs746995346
|
|
|
NM_001267550.2(TTN):c.15496G>T (p.Glu5166Ter)
|
|
|
|
NM_001267550.2(TTN):c.15497-14C>T
|
|
|
|
NM_001267550.2(TTN):c.15497-2A>G
|
rs1232334931
|
|
|
NM_001267550.2(TTN):c.15497-5A>T
|
|
|
|
NM_001267550.2(TTN):c.15497-7T>C
|
rs886042782
|
|
|
NM_001267550.2(TTN):c.15497-8T>C
|
rs727505010
|
|
|
NM_001267550.2(TTN):c.15497-9C>T
|
rs960578150
|
|
|
NM_001267550.2(TTN):c.15501T>C (p.Pro5167=)
|
|
|
|
NM_001267550.2(TTN):c.15507C>T (p.Thr5169=)
|
rs886042124
|
|
|
NM_001267550.2(TTN):c.15513A>G (p.Val5171=)
|
|
|
|
NM_001267550.2(TTN):c.1551T>C (p.Thr517=)
|
|
|
|
NM_001267550.2(TTN):c.1551_1552del (p.Glu518fs)
|
rs2154354703
|
|
|
NM_001267550.2(TTN):c.15527del (p.Asp5176fs)
|
|
|
|
NM_001267550.2(TTN):c.15570T>C (p.Ala5190=)
|
|
|
|
NM_001267550.2(TTN):c.15576del (p.Ser5194fs)
|
rs1578202642
|
|
|
NM_001267550.2(TTN):c.15605T>C (p.Met5202Thr)
|
rs764755768
|
|
|
NM_001267550.2(TTN):c.1560A>G (p.Thr520=)
|
rs2154354699
|
|
|
NM_001267550.2(TTN):c.15615_15622del (p.Gln5205fs)
|
|
|
|
NM_001267550.2(TTN):c.15625A>C (p.Arg5209=)
|
rs1392727449
|
|
|
NM_001267550.2(TTN):c.15672C>T (p.Val5224=)
|
|
|
|
NM_001267550.2(TTN):c.156C>G (p.Pro52=)
|
rs72647842
|
|
|
NM_001267550.2(TTN):c.15705A>G (p.Gly5235=)
|
|
|
|
NM_001267550.2(TTN):c.15723G>A (p.Leu5241=)
|
rs2080942432
|
|
|
NM_001267550.2(TTN):c.1572G>A (p.Lys524=)
|
|
|
|
NM_001267550.2(TTN):c.1575A>T (p.Val525=)
|
rs2154354688
|
|
|
NM_001267550.2(TTN):c.15775+14C>A
|
rs151057960
|
|
|
NM_001267550.2(TTN):c.15775+1G>A
|
rs1353528319
|
|
|
NM_001267550.2(TTN):c.15775+7G>A
|
rs951426984
|
|
|
NM_001267550.2(TTN):c.15776-16T>G
|
|
|
|
NM_001267550.2(TTN):c.15776-18T>C
|
|
|
|
NM_001267550.2(TTN):c.15776-20_15776-17del
|
rs1214115001
|
|
|
NM_001267550.2(TTN):c.15776-4G>A
|
|
|
|
NM_001267550.2(TTN):c.15776-7A>G
|
|
|
|
NM_001267550.2(TTN):c.15789C>T (p.Ile5263=)
|
rs72648933
|
|
|
NM_001267550.2(TTN):c.15804A>G (p.Glu5268=)
|
rs1395584920
|
|
|
NM_001267550.2(TTN):c.15822A>G (p.Ala5274=)
|
|
|
|
NM_001267550.2(TTN):c.15834C>T (p.Ala5278=)
|
rs2154311375
|
|
|
NM_001267550.2(TTN):c.15840G>A (p.Leu5280=)
|
|
|
|
NM_001267550.2(TTN):c.15870G>A (p.Leu5290=)
|
rs879085455
|
|
|
NM_001267550.2(TTN):c.15876C>T (p.Pro5292=)
|
rs2154311342
|
|
|
NM_001267550.2(TTN):c.15896G>C (p.Arg5299Thr)
|
rs563456537
|
|
|
NM_001267550.2(TTN):c.15924A>C (p.Arg5308=)
|
|
|
|
NM_001267550.2(TTN):c.15942T>C (p.Asn5314=)
|
rs1311178060
|
|
|
NM_001267550.2(TTN):c.15948C>G (p.Ala5316=)
|
|
|
|
NM_001267550.2(TTN):c.15948C>T (p.Ala5316=)
|
rs2154311282
|
|
|
NM_001267550.2(TTN):c.15952del (p.Leu5318fs)
|
rs778392667
|
|
|
NM_001267550.2(TTN):c.15969T>A (p.Ala5323=)
|
|
|
|
NM_001267550.2(TTN):c.15975G>T (p.Leu5325=)
|
|
|
|
NM_001267550.2(TTN):c.15990A>G (p.Gln5330=)
|
|
|
|
NM_001267550.2(TTN):c.15993C>T (p.Tyr5331=)
|
rs939269142
|
|
|
NM_001267550.2(TTN):c.15996A>G (p.Thr5332=)
|
rs756168342
|
|
|
NM_001267550.2(TTN):c.16005T>A (p.Ile5335=)
|
rs2154311214
|
|
|
NM_001267550.2(TTN):c.16023C>A (p.Ser5341Arg)
|
rs1553927522
|
|
|
NM_001267550.2(TTN):c.16041A>G (p.Thr5347=)
|
rs879096918
|
|
|
NM_001267550.2(TTN):c.16044C>T (p.Phe5348=)
|
|
|
|
NM_001267550.2(TTN):c.16048del (p.Val5350fs)
|
|
|
|
NM_001267550.2(TTN):c.16054+20G>C
|
|
|
|
NM_001267550.2(TTN):c.16055-15T>C
|
|
|
|
NM_001267550.2(TTN):c.16055-20C>T
|
|
|
|
NM_001267550.2(TTN):c.16057C>T (p.Arg5353Ter)
|
rs267599069
|
|
|
NM_001267550.2(TTN):c.16062C>T (p.Asp5354=)
|
|
|
|
NM_001267550.2(TTN):c.16077del (p.Phe5359fs)
|
rs2080842093
|
|
|
NM_001267550.2(TTN):c.16093A>C (p.Asn5365His)
|
rs878854288
|
|
|
NM_001267550.2(TTN):c.16125A>G (p.Arg5375=)
|
|
|
|
NM_001267550.2(TTN):c.16126C>T (p.Leu5376=)
|
rs72648936
|
|
|
NM_001267550.2(TTN):c.16133G>A (p.Cys5378Tyr)
|
rs754271006
|
|
|
NM_001267550.2(TTN):c.16138A>G (p.Ile5380Val)
|
rs1280725528
|
|
|
NM_001267550.2(TTN):c.16155C>T (p.Pro5385=)
|
rs762536528
|
|
|
NM_001267550.2(TTN):c.16176G>A (p.Lys5392=)
|
|
|
|
NM_001267550.2(TTN):c.1621_1622insCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAACTAGAATTTCTG (p.Glu541delinsAlaLeuLeuValPheLeuArgPheValLysAspGlnIleValValAspMetArgHisTyrPheTer)
|
rs2093537697
|
|
|
NM_001267550.2(TTN):c.16236C>G (p.Ala5412=)
|
|
|
|
NM_001267550.2(TTN):c.16244_16248delinsCTGTCT (p.Glu5415fs)
|
rs2080810704
|
|
|
NM_001267550.2(TTN):c.16257A>G (p.Val5419=)
|
|
|
|
NM_001267550.2(TTN):c.16272A>G (p.Ala5424=)
|
|
|
|
NM_001267550.2(TTN):c.16275G>A (p.Gly5425=)
|
rs772821743
|
|
|
NM_001267550.2(TTN):c.16293C>T (p.Ala5431=)
|
rs2154310693
|
|
|
NM_001267550.2(TTN):c.16302C>A (p.Ser5434=)
|
rs370615208
|
|
|
NM_001267550.2(TTN):c.16317C>T (p.Asp5439=)
|
|
|
|
NM_001267550.2(TTN):c.16326A>T (p.Gly5442=)
|
|
|
|
NM_001267550.2(TTN):c.1632T>G (p.Thr544=)
|
rs2093537126
|
|
|
NM_001267550.2(TTN):c.16330C>T (p.Leu5444=)
|
rs770637793
|
|
|
NM_001267550.2(TTN):c.16335T>A (p.Ile5445=)
|
|
|
|
NM_001267550.2(TTN):c.16338G>A (p.Val5446=)
|
|
|
|
NM_001267550.2(TTN):c.16342+15_16342+16del
|
|
|
|
NM_001267550.2(TTN):c.16342+19A>G
|
rs995083938
|
|
|
NM_001267550.2(TTN):c.16342+5G>C
|
rs950440116
|
|
|
NM_001267550.2(TTN):c.16342+7T>A
|
rs2154310625
|
|
|
NM_001267550.2(TTN):c.16342+8G>A
|
rs1578188351
|
|
|
NM_001267550.2(TTN):c.16343-4T>G
|
|
|
|
NM_001267550.2(TTN):c.16343-6C>G
|
|
|
|
NM_001267550.2(TTN):c.16356del (p.Phe5452fs)
|
|
|
|
NM_001267550.2(TTN):c.16377G>A (p.Lys5459=)
|
rs2154310500
|
|
|
NM_001267550.2(TTN):c.16386G>A (p.Leu5462=)
|
|
|
|
NM_001267550.2(TTN):c.16428T>A (p.Ser5476=)
|
|
|
|
NM_001267550.2(TTN):c.16440A>G (p.Thr5480=)
|
rs763831832
|
|
|
NM_001267550.2(TTN):c.16446A>G (p.Arg5482=)
|
rs1426268579
|
|
|
NM_001267550.2(TTN):c.16470G>T (p.Leu5490=)
|
|
|
|
NM_001267550.2(TTN):c.16482A>C (p.Gly5494=)
|
|
|
|
NM_001267550.2(TTN):c.16489T>A (p.Tyr5497Asn)
|
rs1279249843
|
|
|
NM_001267550.2(TTN):c.16497C>T (p.Thr5499=)
|
|
|
|
NM_001267550.2(TTN):c.16508T>A (p.Leu5503Ter)
|
rs2154310403
|
|
|
NM_001267550.2(TTN):c.16527C>T (p.Leu5509=)
|
rs2154310383
|
|
|
NM_001267550.2(TTN):c.16542C>T (p.Thr5514=)
|
rs2154310371
|
|
|
NM_001267550.2(TTN):c.16560C>T (p.Tyr5520=)
|
rs772540129
|
|
|
NM_001267550.2(TTN):c.16563A>C (p.Thr5521=)
|
rs886055297
|
|
|
NM_001267550.2(TTN):c.16563A>T (p.Thr5521=)
|
rs886055297
|
|
|
NM_001267550.2(TTN):c.16584T>C (p.Ala5528=)
|
|
|
|
NM_001267550.2(TTN):c.165G>A (p.Gln55=)
|
rs1561527314
|
|
|
NM_001267550.2(TTN):c.16617A>T (p.Val5539=)
|
|
|
|
NM_001267550.2(TTN):c.1662+2T>G
|
rs2154354670
|
|
|
NM_001267550.2(TTN):c.1662+5G>A
|
rs1021479898
|
|
|
NM_001267550.2(TTN):c.1662+8T>C
|
rs777742869
|
|
|
NM_001267550.2(TTN):c.16621+10G>A
|
rs539530049
|
|
|
NM_001267550.2(TTN):c.16621+14dup
|
rs756720486
|
|
|
NM_001267550.2(TTN):c.16621+20C>T
|
|
|
|
NM_001267550.2(TTN):c.16621+7A>G
|
|
|
|
NM_001267550.2(TTN):c.16621+8T>C
|
rs1057524119
|
|
|
NM_001267550.2(TTN):c.16622-16TTCC[2]
|
|
|
|
NM_001267550.2(TTN):c.16622-4A>G
|
rs2080694790
|
|
|
NM_001267550.2(TTN):c.16622-5C>G
|
|
|
|
NM_001267550.2(TTN):c.1663-12T>C
|
|
|
|
NM_001267550.2(TTN):c.1663-15T>C
|
|
|
|
NM_001267550.2(TTN):c.1663-9A>C
|
|
|
|
NM_001267550.2(TTN):c.16645T>C (p.Leu5549=)
|
|
|
|
NM_001267550.2(TTN):c.16656A>C (p.Ser5552=)
|
|
|
|
NM_001267550.2(TTN):c.16671G>A (p.Lys5557=)
|
|
|
|
NM_001267550.2(TTN):c.16680C>T (p.Ala5560=)
|
|
|
|
NM_001267550.2(TTN):c.16683C>T (p.Thr5561=)
|
|
|
|
NM_001267550.2(TTN):c.16693T>C (p.Cys5565Arg)
|
rs1228967454
|
|
|
NM_001267550.2(TTN):c.16713del (p.Pro5572fs)
|
|
|
|
NM_001267550.2(TTN):c.16728A>G (p.Thr5576=)
|
rs2080674761
|
|
|
NM_001267550.2(TTN):c.16761C>T (p.Ser5587=)
|
|
|
|
NM_001267550.2(TTN):c.16767A>G (p.Lys5589=)
|
|
|
|
NM_001267550.2(TTN):c.16782T>C (p.Phe5594=)
|
|
|
|
NM_001267550.2(TTN):c.16834G>A (p.Gly5612Ser)
|
rs1060500588
|
|
|
NM_001267550.2(TTN):c.16848_16849del (p.Cys5616_Glu5617delinsTer)
|
rs2154309910
|
|
|
NM_001267550.2(TTN):c.16854C>A (p.Ala5618=)
|
rs769489900
|
|
|
NM_001267550.2(TTN):c.16878C>T (p.His5626=)
|
|
|
|
NM_001267550.2(TTN):c.16893A>C (p.Val5631=)
|
rs757393270
|
|
|
NM_001267550.2(TTN):c.1689T>A (p.Ala563=)
|
|
|
|
NM_001267550.2(TTN):c.16903+16G>T
|
|
|
|
NM_001267550.2(TTN):c.16903+18C>T
|
|
|
|
NM_001267550.2(TTN):c.16903+2T>C
|
rs1060500574
|
|
|
NM_001267550.2(TTN):c.16904-15C>T
|
|
|
|
NM_001267550.2(TTN):c.16904-4G>A
|
rs778611530
|
|
|
NM_001267550.2(TTN):c.16904-7A>G
|
|
|
|
NM_001267550.2(TTN):c.16904-8dup
|
|
|
|
NM_001267550.2(TTN):c.16907C>T (p.Ser5636Leu)
|
rs1553925181
|
|
|
NM_001267550.2(TTN):c.16917T>C (p.Phe5639=)
|
|
|
|
NM_001267550.2(TTN):c.1692A>G (p.Ala564=)
|
|
|
|
NM_001267550.2(TTN):c.16971G>A (p.Leu5657=)
|
|
|
|
NM_001267550.2(TTN):c.16971G>T (p.Leu5657=)
|
|
|
|
NM_001267550.2(TTN):c.17019T>C (p.Asp5673=)
|
rs1018272067
|
|
|
NM_001267550.2(TTN):c.17032C>A (p.Arg5678=)
|
rs1199616569
|
|
|
NM_001267550.2(TTN):c.17032_17033del (p.Arg5678fs)
|
|
|
|
NM_001267550.2(TTN):c.17043A>G (p.Arg5681=)
|
|
|
|
NM_001267550.2(TTN):c.17073G>A (p.Leu5691=)
|
rs2154309618
|
|
|
NM_001267550.2(TTN):c.17079C>T (p.Ser5693=)
|
rs372588069
|
|
|
NM_001267550.2(TTN):c.1707T>C (p.Val569=)
|
|
|
|
NM_001267550.2(TTN):c.17088C>T (p.Ile5696=)
|
|
|
|
NM_001267550.2(TTN):c.17106A>T (p.Ala5702=)
|
|
|
|
NM_001267550.2(TTN):c.17115C>G (p.Gly5705=)
|
rs370036981
|
|
|
NM_001267550.2(TTN):c.17127T>C (p.Cys5709=)
|
rs2154309574
|
|
|
NM_001267550.2(TTN):c.17133G>A (p.Val5711=)
|
|
|
|
NM_001267550.2(TTN):c.17160C>T (p.Cys5720=)
|
rs972381308
|
|
|
NM_001267550.2(TTN):c.17182+14C>A
|
|
|
|
NM_001267550.2(TTN):c.17182+17G>C
|
|
|
|
NM_001267550.2(TTN):c.17182+18T>G
|
rs758899121
|
|
|
NM_001267550.2(TTN):c.17182+1G>A
|
|
|
|
NM_001267550.2(TTN):c.17183-10C>A
|
|
|
|
NM_001267550.2(TTN):c.17183-15T>G
|
rs2154309423
|
|
|
NM_001267550.2(TTN):c.17183-16T>A
|
|
|
|
NM_001267550.2(TTN):c.17183-5G>A
|
rs1553924621
|
|
|
NM_001267550.2(TTN):c.17183-5G>T
|
|
|
|
NM_001267550.2(TTN):c.17187C>G (p.Pro5729=)
|
|
|
|
NM_001267550.2(TTN):c.17187C>T (p.Pro5729=)
|
|
|
|
NM_001267550.2(TTN):c.17190A>G (p.Pro5730=)
|
|
|
|
NM_001267550.2(TTN):c.17201AGA[1] (p.Lys5735del)
|
rs1060500441
|
|
|
NM_001267550.2(TTN):c.17208C>T (p.Ile5736=)
|
rs397517484
|
|
|
NM_001267550.2(TTN):c.17213G>A (p.Ser5738Asn)
|
rs1060500502
|
|
|
NM_001267550.2(TTN):c.17217C>T (p.Thr5739=)
|
rs1553924564
|
|
|
NM_001267550.2(TTN):c.17226C>T (p.Leu5742=)
|
rs2154309349
|
|
|
NM_001267550.2(TTN):c.17232A>G (p.Gly5744=)
|
|
|
|
NM_001267550.2(TTN):c.17235C>G (p.Gly5745=)
|
|
|
|
NM_001267550.2(TTN):c.17241T>C (p.Ala5747=)
|
|
|
|
NM_001267550.2(TTN):c.17259G>A (p.Leu5753=)
|
rs1060503934
|
|
|
NM_001267550.2(TTN):c.17268C>T (p.Ser5756=)
|
|
|
|
NM_001267550.2(TTN):c.17274A>G (p.Pro5758=)
|
rs1389532263
|
|
|
NM_001267550.2(TTN):c.17281del (p.Thr5760_Val5761insTer)
|
rs1392541002
|
|
|
NM_001267550.2(TTN):c.17298C>T (p.Asp5766=)
|
|
|
|
NM_001267550.2(TTN):c.17331A>G (p.Arg5777=)
|
|
|
|
NM_001267550.2(TTN):c.17337C>G (p.Thr5779=)
|
rs763117242
|
|
|
NM_001267550.2(TTN):c.17357G>T (p.Ser5786Ile)
|
rs1553924253
|
|
|
NM_001267550.2(TTN):c.17382C>G (p.Val5794=)
|
rs946342761
|
|
|
NM_001267550.2(TTN):c.17385G>A (p.Lys5795=)
|
|
|
|
NM_001267550.2(TTN):c.17391T>C (p.Asp5797=)
|
rs1446727042
|
|
|
NM_001267550.2(TTN):c.17409G>A (p.Gln5803=)
|
rs914726368
|
|
|
NM_001267550.2(TTN):c.17423C>T (p.Ala5808Val)
|
rs1409068952
|
|
|
NM_001267550.2(TTN):c.17427A>G (p.Gly5809=)
|
|
|
|
NM_001267550.2(TTN):c.17442T>G (p.Ser5814=)
|
rs770532942
|
|
|
NM_001267550.2(TTN):c.17445A>C (p.Ala5815=)
|
|
|
|
NM_001267550.2(TTN):c.17461+12A>T
|
|
|
|
NM_001267550.2(TTN):c.17461+13C>T
|
|
|
|
NM_001267550.2(TTN):c.17461+1G>A
|
|
|
|
NM_001267550.2(TTN):c.17461+1G>C
|
rs747990127
|
|
|
NM_001267550.2(TTN):c.17461+5G>C
|
|
|
|
NM_001267550.2(TTN):c.17461+8C>T
|
|
|
|
NM_001267550.2(TTN):c.17462-11G>C
|
|
|
|
NM_001267550.2(TTN):c.17462-17C>T
|
|
|
|
NM_001267550.2(TTN):c.17462-20T>C
|
rs747021830
|
|
|
NM_001267550.2(TTN):c.17482G>T (p.Glu5828Ter)
|
|
|
|
NM_001267550.2(TTN):c.17487T>C (p.Ala5829=)
|
rs2154308954
|
|
|
NM_001267550.2(TTN):c.17499T>C (p.Asp5833=)
|
|
|
|
NM_001267550.2(TTN):c.17506dup (p.Gln5836fs)
|
|
|
|
NM_001267550.2(TTN):c.17517A>C (p.Pro5839=)
|
rs2154308917
|
|
|
NM_001267550.2(TTN):c.17523T>C (p.Thr5841=)
|
|
|
|
NM_001267550.2(TTN):c.1752A>G (p.Gln584=)
|
|
|
|
NM_001267550.2(TTN):c.17559A>G (p.Thr5853=)
|
rs2154308870
|
|
|
NM_001267550.2(TTN):c.17559A>T (p.Thr5853=)
|
|
|
|
NM_001267550.2(TTN):c.17580C>T (p.Gly5860=)
|
|
|
|
NM_001267550.2(TTN):c.17592C>T (p.Thr5864=)
|
rs1481239026
|
|
|
NM_001267550.2(TTN):c.17593C>T (p.Leu5865=)
|
rs1255975692
|
|
|
NM_001267550.2(TTN):c.17595G>A (p.Leu5865=)
|
rs2154308833
|
|
|
NM_001267550.2(TTN):c.1759_1763del (p.Thr587fs)
|
rs1024367270
|
|
|
NM_001267550.2(TTN):c.17604A>G (p.Lys5868=)
|
rs2154308822
|
|
|
NM_001267550.2(TTN):c.17610A>G (p.Lys5870=)
|
rs2154308817
|
|
|
NM_001267550.2(TTN):c.17612_17613insAAAAATATAAAAT (p.Ile5871_Ser5872insLysIleTer)
|
|
|
|
NM_001267550.2(TTN):c.17616T>C (p.Ser5872=)
|
|
|
|
NM_001267550.2(TTN):c.17619C>A (p.Val5873=)
|
|
|
|
NM_001267550.2(TTN):c.17622T>C (p.Thr5874=)
|
|
|
|
NM_001267550.2(TTN):c.17622T>G (p.Thr5874=)
|
rs559877209
|
|
|
NM_001267550.2(TTN):c.17634A>G (p.Ser5878=)
|
|
|
|
NM_001267550.2(TTN):c.17638C>T (p.Leu5880=)
|
rs1414423068
|
|
|
NM_001267550.2(TTN):c.1764C>T (p.Thr588=)
|
|
|
|
NM_001267550.2(TTN):c.17688G>A (p.Glu5896=)
|
|
|
|
NM_001267550.2(TTN):c.17700T>C (p.Asp5900=)
|
|
|
|
NM_001267550.2(TTN):c.1770A>G (p.Gln590=)
|
|
|
|
NM_001267550.2(TTN):c.17718C>T (p.Cys5906=)
|
|
|
|
NM_001267550.2(TTN):c.1771C>G (p.Gln591Glu)
|
rs747286444
|
|
|
NM_001267550.2(TTN):c.17736A>G (p.Val5912=)
|
rs1248076023
|
|
|
NM_001267550.2(TTN):c.17740+13del
|
|
|
|
NM_001267550.2(TTN):c.17740+7A>G
|
rs2080364920
|
|
|
NM_001267550.2(TTN):c.17741-16C>T
|
|
|
|
NM_001267550.2(TTN):c.17741-1G>A
|
rs2154308493
|
|
|
NM_001267550.2(TTN):c.17741-27GTT[2]
|
|
|
|
NM_001267550.2(TTN):c.17757T>C (p.Pro5919=)
|
rs2080316192
|
|
|
NM_001267550.2(TTN):c.17773C>A (p.Leu5925Met)
|
rs750909367
|
|
|
NM_001267550.2(TTN):c.17781A>G (p.Lys5927=)
|
|
|
|
NM_001267550.2(TTN):c.17787C>T (p.Asp5929=)
|
rs1227964604
|
|
|
NM_001267550.2(TTN):c.17790C>T (p.Ser5930=)
|
|
|
|
NM_001267550.2(TTN):c.177C>T (p.Ser59=)
|
rs191057824
|
|
|
NM_001267550.2(TTN):c.17823del (p.Ile5941fs)
|
rs2154308403
|
|
|
NM_001267550.2(TTN):c.17847C>T (p.Ser5949=)
|
|
|
|
NM_001267550.2(TTN):c.17853G>A (p.Gln5951=)
|
rs746419315
|
|
|
NM_001267550.2(TTN):c.17868C>T (p.Asp5956=)
|
rs879248826
|
|
|
NM_001267550.2(TTN):c.17875A>G (p.Ile5959Val)
|
rs1060500508
|
|
|
NM_001267550.2(TTN):c.17898A>G (p.Lys5966=)
|
|
|
|
NM_001267550.2(TTN):c.1794T>C (p.Tyr598=)
|
|
|
|
NM_001267550.2(TTN):c.17961G>A (p.Gly5987=)
|
|
|
|
NM_001267550.2(TTN):c.17967C>G (p.Tyr5989Ter)
|
rs2154308240
|
|
|
NM_001267550.2(TTN):c.17967C>T (p.Tyr5989=)
|
|
|
|
NM_001267550.2(TTN):c.17992G>A (p.Gly5998Arg)
|
rs757934638
|
|
|
NM_001267550.2(TTN):c.1800+11C>T
|
|
|
|
NM_001267550.2(TTN):c.1800+17A>G
|
rs1048882977
|
|
|
NM_001267550.2(TTN):c.1800+18A>G
|
|
|
|
NM_001267550.2(TTN):c.1800+8C>A
|
|
|
|
NM_001267550.2(TTN):c.1800+8C>G
|
|
|
|
NM_001267550.2(TTN):c.1800+9T>G
|
rs1012796976
|
|
|
NM_001267550.2(TTN):c.18003A>G (p.Gln6001=)
|
rs142833401
|
|
|
NM_001267550.2(TTN):c.1801-17T>C
|
rs2154353687
|
|
|
NM_001267550.2(TTN):c.1801-2A>G
|
|
|
|
NM_001267550.2(TTN):c.1801-7T>C
|
rs775380629
|
|
|
NM_001267550.2(TTN):c.18028+15T>C
|
|
|
|
NM_001267550.2(TTN):c.18028+1G>A
|
rs1560786548
|
|
|
NM_001267550.2(TTN):c.18028+20A>G
|
rs2154308186
|
|
|
NM_001267550.2(TTN):c.18028+20A>T
|
rs2154308186
|
|
|
NM_001267550.2(TTN):c.18028+2T>C
|
rs1553922787
|
|
|
NM_001267550.2(TTN):c.18028+6C>A
|
|
|
|
NM_001267550.2(TTN):c.18028+9A>C
|
|
|
|
NM_001267550.2(TTN):c.18028+9del
|
rs762719446
|
|
|
NM_001267550.2(TTN):c.18029-12C>A
|
rs1434764564
|
|
|
NM_001267550.2(TTN):c.18029-12C>G
|
|
|
|
NM_001267550.2(TTN):c.18029-20_18029-19delinsCC
|
rs2080233713
|
|
|
NM_001267550.2(TTN):c.18029-5C>T
|
rs2080227269
|
|
|
NM_001267550.2(TTN):c.18029-8C>G
|
rs2154308111
|
|
|
NM_001267550.2(TTN):c.18033C>A (p.Pro6011=)
|
|
|
|
NM_001267550.2(TTN):c.18045G>T (p.Val6015=)
|
rs1013393173
|
|
|
NM_001267550.2(TTN):c.18054A>C (p.Pro6018=)
|
rs575829011
|
|
|
NM_001267550.2(TTN):c.18063A>G (p.Gln6021=)
|
|
|
|
NM_001267550.2(TTN):c.18066T>C (p.Asp6022=)
|
|
|
|
NM_001267550.2(TTN):c.18075C>A (p.Pro6025=)
|
rs557350005
|
|
|
NM_001267550.2(TTN):c.18075C>T (p.Pro6025=)
|
rs557350005
|
|
|
NM_001267550.2(TTN):c.18078C>T (p.Asn6026=)
|
rs1578149449
|
|
|
NM_001267550.2(TTN):c.18096G>A (p.Lys6032=)
|
|
|
|
NM_001267550.2(TTN):c.18114T>C (p.Thr6038=)
|
rs1221916366
|
|
|
NM_001267550.2(TTN):c.18132G>A (p.Lys6044=)
|
|
|
|
NM_001267550.2(TTN):c.18144T>C (p.Asp6048=)
|
rs2154308002
|
|
|
NM_001267550.2(TTN):c.18205C>T (p.Leu6069=)
|
|
|
|
NM_001267550.2(TTN):c.18207A>T (p.Leu6069=)
|
|
|
|
NM_001267550.2(TTN):c.18249T>C (p.Ile6083=)
|
rs1057522780
|
|
|
NM_001267550.2(TTN):c.18258A>G (p.Leu6086=)
|
|
|
|
NM_001267550.2(TTN):c.18264T>C (p.Asn6088=)
|
rs748182054
|
|
|
NM_001267550.2(TTN):c.18276A>G (p.Thr6092=)
|
rs751657803
|
|
|
NM_001267550.2(TTN):c.18279A>T (p.Ala6093=)
|
|
|
|
NM_001267550.2(TTN):c.18303A>G (p.Val6101=)
|
rs1334337532
|
|
|
NM_001267550.2(TTN):c.18303A>T (p.Val6101=)
|
|
|
|
NM_001267550.2(TTN):c.18307+14A>G
|
|
|
|
NM_001267550.2(TTN):c.18307+20T>G
|
|
|
|
NM_001267550.2(TTN):c.18307+2T>C
|
rs2154307882
|
|
|
NM_001267550.2(TTN):c.18307+8C>T
|
|
|
|
NM_001267550.2(TTN):c.18308-16C>A
|
rs2080100319
|
|
|
NM_001267550.2(TTN):c.18308-4T>A
|
|
|
|
NM_001267550.2(TTN):c.18308-4T>G
|
|
|
|
NM_001267550.2(TTN):c.18308-8A>T
|
|
|
|
NM_001267550.2(TTN):c.18317A>G (p.Gln6106Arg)
|
rs1553921829
|
|
|
NM_001267550.2(TTN):c.18318A>G (p.Gln6106=)
|
|
|
|
NM_001267550.2(TTN):c.18348G>A (p.Val6116=)
|
|
|
|
NM_001267550.2(TTN):c.18371C>A (p.Thr6124Lys)
|
rs1280788914
|
|
|
NM_001267550.2(TTN):c.18372A>G (p.Thr6124=)
|
|
|
|
NM_001267550.2(TTN):c.183C>G (p.Gly61=)
|
|
|
|
NM_001267550.2(TTN):c.18406C>T (p.Arg6136Ter)
|
rs2154307591
|
|
|
NM_001267550.2(TTN):c.18411_18412insSVAelement
|
|
|
|
NM_001267550.2(TTN):c.18468C>T (p.Phe6156=)
|
rs886043405
|
|
|
NM_001267550.2(TTN):c.1848C>T (p.Ala616=)
|
|
|
|
NM_001267550.2(TTN):c.18504C>T (p.Ala6168=)
|
|
|
|
NM_001267550.2(TTN):c.18516T>C (p.Asn6172=)
|
rs1437976464
|
|
|
NM_001267550.2(TTN):c.18525T>G (p.Thr6175=)
|
|
|
|
NM_001267550.2(TTN):c.18552A>T (p.Ala6184=)
|
rs2080057937
|
|
|
NM_001267550.2(TTN):c.18561G>C (p.Ala6187=)
|
|
|
|
NM_001267550.2(TTN):c.18570C>T (p.Ser6190=)
|
|
|
|
NM_001267550.2(TTN):c.18585G>A (p.Val6195=)
|
|
|
|
NM_001267550.2(TTN):c.18589+10T>G
|
|
|
|
NM_001267550.2(TTN):c.18589+11G>C
|
rs2154307478
|
|
|
NM_001267550.2(TTN):c.18590-16C>A
|
|
|
|
NM_001267550.2(TTN):c.18590-19C>A
|
|
|
|
NM_001267550.2(TTN):c.18590-20T>C
|
|
|
|
NM_001267550.2(TTN):c.18590-4T>G
|
rs2154307389
|
|
|
NM_001267550.2(TTN):c.18591A>G (p.Glu6197=)
|
rs999871371
|
|
|
NM_001267550.2(TTN):c.18597C>T (p.Pro6199=)
|
rs753370006
|
|
|
NM_001267550.2(TTN):c.18612G>A (p.Glu6204=)
|
rs2154307365
|
|
|
NM_001267550.2(TTN):c.18630A>C (p.Val6210=)
|
rs762940490
|
|
|
NM_001267550.2(TTN):c.18633A>T (p.Val6211=)
|
|
|
|
NM_001267550.2(TTN):c.18639T>C (p.Tyr6213=)
|
rs1578138382
|
|
|
NM_001267550.2(TTN):c.18642T>C (p.Ser6214=)
|
|
|
|
NM_001267550.2(TTN):c.18654G>C (p.Leu6218=)
|
|
|
|
NM_001267550.2(TTN):c.18677C>A (p.Pro6226His)
|
rs746345160
|
|
|
NM_001267550.2(TTN):c.18678T>A (p.Pro6226=)
|
rs777313455
|
|
|
NM_001267550.2(TTN):c.18690C>T (p.Val6230=)
|
rs754536598
|
|
|
NM_001267550.2(TTN):c.18705T>C (p.Asn6235=)
|
rs766055257
|
|
|
NM_001267550.2(TTN):c.18709_18710del (p.Arg6237fs)
|
|
|
|
NM_001267550.2(TTN):c.18714A>G (p.Glu6238=)
|
|
|
|
NM_001267550.2(TTN):c.18718C>T (p.Arg6240Ter)
|
|
|
|
NM_001267550.2(TTN):c.18720A>T (p.Arg6240=)
|
rs201395913
|
|
|
NM_001267550.2(TTN):c.1872T>C (p.Asp624=)
|
rs2154353628
|
|
|
NM_001267550.2(TTN):c.18735C>T (p.Tyr6245=)
|
|
|
|
NM_001267550.2(TTN):c.18736A>G (p.Thr6246Ala)
|
rs1553920950
|
|
|
NM_001267550.2(TTN):c.18753G>A (p.Val6251=)
|
|
|
|
NM_001267550.2(TTN):c.18759G>A (p.Val6253=)
|
|
|
|
NM_001267550.2(TTN):c.18771T>C (p.His6257=)
|
|
|
|
NM_001267550.2(TTN):c.1878A>G (p.Val626=)
|
rs761672925
|
|
|
NM_001267550.2(TTN):c.18791C>G (p.Ser6264Ter)
|
rs2079975361
|
|
|
NM_001267550.2(TTN):c.18807C>T (p.Tyr6269=)
|
rs189167196
|
|
|
NM_001267550.2(TTN):c.18810G>A (p.Gln6270=)
|
rs727505012
|
|
|
NM_001267550.2(TTN):c.18831C>A (p.Gly6277=)
|
|
|
|
NM_001267550.2(TTN):c.18868+17G>T
|
rs922396967
|
|
|
NM_001267550.2(TTN):c.18868+20G>A
|
|
|
|
NM_001267550.2(TTN):c.18869-14_18869-13del
|
|
|
|
NM_001267550.2(TTN):c.18869-16T>G
|
|
|
|
NM_001267550.2(TTN):c.18869-17C>G
|
|
|
|
NM_001267550.2(TTN):c.18869-8A>C
|
|
|
|
NM_001267550.2(TTN):c.18887A>G (p.Lys6296Arg)
|
rs1553920476
|
|
|
NM_001267550.2(TTN):c.18927C>T (p.Ala6309=)
|
rs370013727
|
|
|
NM_001267550.2(TTN):c.18930C>G (p.Thr6310=)
|
|
|
|
NM_001267550.2(TTN):c.18933T>C (p.Phe6311=)
|
|
|
|
NM_001267550.2(TTN):c.18942C>A (p.Thr6314=)
|
|
|
|
NM_001267550.2(TTN):c.18942C>G (p.Thr6314=)
|
rs572285982
|
|
|
NM_001267550.2(TTN):c.18950G>T (p.Gly6317Val)
|
rs1060500522
|
|
|
NM_001267550.2(TTN):c.18960T>C (p.Pro6320=)
|
|
|
|
NM_001267550.2(TTN):c.18987T>C (p.Asp6329=)
|
|
|
|
NM_001267550.2(TTN):c.18996T>G (p.Leu6332=)
|
rs2154306872
|
|
|
NM_001267550.2(TTN):c.189T>G (p.Ala63=)
|
rs1057520389
|
|
|
NM_001267550.2(TTN):c.19062G>A (p.Val6354=)
|
rs1578129937
|
|
|
NM_001267550.2(TTN):c.19089C>G (p.Thr6363=)
|
rs2154306832
|
|
|
NM_001267550.2(TTN):c.19110A>G (p.Ser6370=)
|
rs796255119
|
|
|
NM_001267550.2(TTN):c.19113A>C (p.Gly6371=)
|
|
|
|
NM_001267550.2(TTN):c.19128T>C (p.Tyr6376=)
|
|
|
|
NM_001267550.2(TTN):c.19134C>T (p.Phe6378=)
|
|
|
|
NM_001267550.2(TTN):c.19147+13T>A
|
|
|
|
NM_001267550.2(TTN):c.19147+16T>C
|
|
|
|
NM_001267550.2(TTN):c.19147+16del
|
|
|
|
NM_001267550.2(TTN):c.19147+17C>G
|
|
|
|
NM_001267550.2(TTN):c.19148-12T>C
|
|
|
|
NM_001267550.2(TTN):c.19148-17T>C
|
rs2079833035
|
|
|
NM_001267550.2(TTN):c.19161C>T (p.Ile6387=)
|
|
|
|
NM_001267550.2(TTN):c.19173T>G (p.Ala6391=)
|
rs1259684968
|
|
|
NM_001267550.2(TTN):c.19180del (p.Val6394fs)
|
rs1560763939
|
|
|
NM_001267550.2(TTN):c.19229del (p.Gly6410fs)
|
rs2079812566
|
|
|
NM_001267550.2(TTN):c.19237G>T (p.Glu6413Ter)
|
|
|
|
NM_001267550.2(TTN):c.1923A>G (p.Gln641=)
|
|
|
|
NM_001267550.2(TTN):c.19242C>G (p.Leu6414=)
|
|
|
|
NM_001267550.2(TTN):c.19254G>A (p.Trp6418Ter)
|
rs2154306627
|
|
|
NM_001267550.2(TTN):c.19293T>C (p.Phe6431=)
|
|
|
|
NM_001267550.2(TTN):c.19306G>T (p.Glu6436Ter)
|
rs267599063
|
|
|
NM_001267550.2(TTN):c.19311T>C (p.Asn6437=)
|
rs2154306594
|
|
|
NM_001267550.2(TTN):c.19335G>A (p.Gln6445=)
|
|
|
|
NM_001267550.2(TTN):c.19338A>G (p.Ser6446=)
|
|
|
|
NM_001267550.2(TTN):c.19347G>A (p.Lys6449=)
|
rs1553919623
|
|
|
NM_001267550.2(TTN):c.1935G>A (p.Glu645=)
|
rs2093403732
|
|
|
NM_001267550.2(TTN):c.19365C>T (p.Tyr6455=)
|
|
|
|
NM_001267550.2(TTN):c.19365del (p.Gln6454_Tyr6455insTer)
|
|
|
|
NM_001267550.2(TTN):c.19368T>C (p.Thr6456=)
|
rs1553919591
|
|
|
NM_001267550.2(TTN):c.19374G>A (p.Lys6458=)
|
|
|
|
NM_001267550.2(TTN):c.1938+14T>A
|
|
|
|
NM_001267550.2(TTN):c.1938+1G>T
|
rs774414270
|
|
|
NM_001267550.2(TTN):c.1939-7T>C
|
rs757828396
|
|
|
NM_001267550.2(TTN):c.1939-9A>G
|
rs2154353377
|
|
|
NM_001267550.2(TTN):c.19413C>T (p.Tyr6471=)
|
rs2079776267
|
|
|
NM_001267550.2(TTN):c.19423C>T (p.Leu6475=)
|
|
|
|
NM_001267550.2(TTN):c.19426+14C>A
|
|
|
|
NM_001267550.2(TTN):c.19426+15C>G
|
|
|
|
NM_001267550.2(TTN):c.19426+2T>A
|
rs727505178
|
|
|
NM_001267550.2(TTN):c.19427-17C>T
|
|
|
|
NM_001267550.2(TTN):c.19427-9A>G
|
|
|
|
NM_001267550.2(TTN):c.19428T>C (p.Asp6476=)
|
rs1228771607
|
|
|
NM_001267550.2(TTN):c.19446A>G (p.Ser6482=)
|
rs1030612878
|
|
|
NM_001267550.2(TTN):c.19458A>G (p.Lys6486=)
|
|
|
|
NM_001267550.2(TTN):c.19458dup (p.Leu6487fs)
|
rs2079736561
|
|
|
NM_001267550.2(TTN):c.19473T>C (p.Asp6491=)
|
rs2154306405
|
|
|
NM_001267550.2(TTN):c.19485C>A (p.Gly6495=)
|
rs780158564
|
|
|
NM_001267550.2(TTN):c.19512G>C (p.Val6504=)
|
rs371112260
|
|
|
NM_001267550.2(TTN):c.19581C>A (p.Tyr6527Ter)
|
rs746828415
|
|
|
NM_001267550.2(TTN):c.19601_19602del (p.Arg6534fs)
|
rs1064796380
|
|
|
NM_001267550.2(TTN):c.19605del (p.Val6536fs)
|
rs2079698337
|
|
|
NM_001267550.2(TTN):c.1961del (p.Thr654fs)
|
rs2154353364
|
|
|
NM_001267550.2(TTN):c.19620T>C (p.Val6540=)
|
rs2154306306
|
|
|
NM_001267550.2(TTN):c.1964C>A (p.Ala655Asp)
|
rs763912778
|
|
|
NM_001267550.2(TTN):c.19656A>G (p.Thr6552=)
|
|
|
|
NM_001267550.2(TTN):c.19689A>C (p.Ala6563=)
|
rs760099971
|
|
|
NM_001267550.2(TTN):c.19692C>T (p.Cys6564=)
|
|
|
|
NM_001267550.2(TTN):c.19709_19710del (p.Val6570fs)
|
|
|
|
NM_001267550.2(TTN):c.19714+10T>G
|
rs2154306251
|
|
|
NM_001267550.2(TTN):c.19714+1G>T
|
rs1060500423
|
|
|
NM_001267550.2(TTN):c.19715-16C>T
|
|
|
|
NM_001267550.2(TTN):c.19715-18C>A
|
|
|
|
NM_001267550.2(TTN):c.19715-5T>C
|
|
|
|
NM_001267550.2(TTN):c.19715-8dup
|
|
|
|
NM_001267550.2(TTN):c.19731A>G (p.Leu6577=)
|
rs2154306068
|
|
|
NM_001267550.2(TTN):c.19743G>A (p.Gly6581=)
|
|
|
|
NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter)
|
rs794727829
|
|
|
NM_001267550.2(TTN):c.19782G>A (p.Lys6594=)
|
|
|
|
NM_001267550.2(TTN):c.19797A>G (p.Gly6599=)
|
|
|
|
NM_001267550.2(TTN):c.19806A>G (p.Pro6602=)
|
|
|
|
NM_001267550.2(TTN):c.1980A>C (p.Ala660=)
|
rs1574857753
|
|
|
NM_001267550.2(TTN):c.1980A>G (p.Ala660=)
|
|
|
|
NM_001267550.2(TTN):c.19839A>G (p.Glu6613=)
|
|
|
|
NM_001267550.2(TTN):c.19848A>G (p.Ser6616=)
|
rs1345701707
|
|
|
NM_001267550.2(TTN):c.19860T>C (p.Cys6620=)
|
|
|
|
NM_001267550.2(TTN):c.19877G>A (p.Gly6626Glu)
|
rs1362220931
|
|
|
NM_001267550.2(TTN):c.19878G>A (p.Gly6626=)
|
|
|
|
NM_001267550.2(TTN):c.19881G>T (p.Ser6627=)
|
rs371495674
|
|
|
NM_001267550.2(TTN):c.19884T>C (p.Thr6628=)
|
rs748254218
|
|
|
NM_001267550.2(TTN):c.19899C>T (p.Leu6633=)
|
rs2154305949
|
|
|
NM_001267550.2(TTN):c.19923T>C (p.Thr6641=)
|
rs367702810
|
|
|
NM_001267550.2(TTN):c.19935T>G (p.Thr6645=)
|
|
|
|
NM_001267550.2(TTN):c.19938C>T (p.Cys6646=)
|
|
|
|
NM_001267550.2(TTN):c.19953T>C (p.Asp6651=)
|
|
|
|
NM_001267550.2(TTN):c.19959T>C (p.Gly6653=)
|
|
|
|
NM_001267550.2(TTN):c.19974T>C (p.Thr6658=)
|
|
|
|
NM_001267550.2(TTN):c.19977G>T (p.Thr6659=)
|
rs1060503954
|
|
|
NM_001267550.2(TTN):c.19992A>G (p.Thr6664=)
|
rs1560749476
|
|
|
NM_001267550.2(TTN):c.19993+13G>T
|
rs2154305867
|
|
|
NM_001267550.2(TTN):c.19993+20_19993+29del
|
rs2154305844
|
|
|
NM_001267550.2(TTN):c.19993+5G>A
|
rs907914759
|
|
|
NM_001267550.2(TTN):c.19993+8A>G
|
|
|
|
NM_001267550.2(TTN):c.19994-10_19994-7del
|
rs2154305619
|
|
|
NM_001267550.2(TTN):c.19994-19C>T
|
|
|
|
NM_001267550.2(TTN):c.19994-20C>G
|
|
|
|
NM_001267550.2(TTN):c.19994-6C>A
|
rs1578104295
|
|
|
NM_001267550.2(TTN):c.19994-7T>G
|
rs1292778822
|
|
|
NM_001267550.2(TTN):c.19998A>G (p.Pro6666=)
|
rs1578104149
|
|
|
NM_001267550.2(TTN):c.20008del (p.Phe6669_Val6670insTer)
|
|
|
|
NM_001267550.2(TTN):c.20028C>T (p.Ser6676=)
|
|
|
|
NM_001267550.2(TTN):c.20035G>A (p.Val6679Met)
|
rs1553917765
|
|
|
NM_001267550.2(TTN):c.20058A>C (p.Arg6686=)
|
|
|
|
NM_001267550.2(TTN):c.20112T>C (p.Asn6704=)
|
rs1578102842
|
|
|
NM_001267550.2(TTN):c.20142C>T (p.Tyr6714=)
|
rs535793314
|
|
|
NM_001267550.2(TTN):c.20143A>C (p.Arg6715=)
|
|
|
|
NM_001267550.2(TTN):c.20184C>T (p.Asn6728=)
|
|
|
|
NM_001267550.2(TTN):c.20185A>G (p.Asn6729Asp)
|
rs794729619
|
|
|
NM_001267550.2(TTN):c.20235C>A (p.Pro6745=)
|
rs528625782
|
|
|
NM_001267550.2(TTN):c.20247A>G (p.Thr6749=)
|
|
|
|
NM_001267550.2(TTN):c.20271A>G (p.Val6757=)
|
rs759705680
|
|
|
NM_001267550.2(TTN):c.20275+12G>A
|
|
|
|
NM_001267550.2(TTN):c.20275+8T>C
|
|
|
|
NM_001267550.2(TTN):c.20275+9C>T
|
rs1241874371
|
|
|
NM_001267550.2(TTN):c.20276-1G>C
|
rs2154304651
|
|
|
NM_001267550.2(TTN):c.20276-4G>A
|
|
|
|
NM_001267550.2(TTN):c.20276-4G>T
|
rs78479497
|
|
|
NM_001267550.2(TTN):c.20276-5del
|
rs779654489
|
|
|
NM_001267550.2(TTN):c.20276-5dup
|
|
|
|
NM_001267550.2(TTN):c.20286T>G (p.Val6762=)
|
|
|
|
NM_001267550.2(TTN):c.20324del (p.Asn6775fs)
|
rs1578084690
|
|
|
NM_001267550.2(TTN):c.20349A>G (p.Glu6783=)
|
|
|
|
NM_001267550.2(TTN):c.20364A>G (p.Pro6788=)
|
rs2154304597
|
|
|
NM_001267550.2(TTN):c.20367G>A (p.Pro6789=)
|
rs368422028
|
|
|
NM_001267550.2(TTN):c.20379A>G (p.Val6793=)
|
rs1578083859
|
|
|
NM_001267550.2(TTN):c.20402_20405del (p.Leu6801fs)
|
|
|
|
NM_001267550.2(TTN):c.20403C>A (p.Leu6801=)
|
rs1578083587
|
|
|
NM_001267550.2(TTN):c.20409C>T (p.Ser6803=)
|
rs750465610
|
|
|
NM_001267550.2(TTN):c.20418A>G (p.Lys6806=)
|
rs768932465
|
|
|
NM_001267550.2(TTN):c.20421C>T (p.Tyr6807=)
|
rs2154304578
|
|
|
NM_001267550.2(TTN):c.20438del (p.Asn6813fs)
|
rs2154304574
|
|
|
NM_001267550.2(TTN):c.20441_20448del (p.Asn6813_Phe6814insTer)
|
rs2154304568
|
|
|
NM_001267550.2(TTN):c.20454T>C (p.Ile6818=)
|
rs2079252200
|
|
|
NM_001267550.2(TTN):c.20455C>T (p.His6819Tyr)
|
rs1553916130
|
|
|
NM_001267550.2(TTN):c.20472C>T (p.Asp6824=)
|
rs1418781337
|
|
|
NM_001267550.2(TTN):c.20475T>A (p.Thr6825=)
|
rs2154304547
|
|
|
NM_001267550.2(TTN):c.20484C>G (p.Ile6828Met)
|
rs563320328
|
|
|
NM_001267550.2(TTN):c.20496C>T (p.His6832=)
|
rs1282270193
|
|
|
NM_001267550.2(TTN):c.20548T>C (p.Leu6850=)
|
rs1578081741
|
|
|
NM_001267550.2(TTN):c.20554+10G>A
|
|
|
|
NM_001267550.2(TTN):c.20554+10G>C
|
rs1553915945
|
|
|
NM_001267550.2(TTN):c.20554+12T>C
|
|
|
|
NM_001267550.2(TTN):c.20554+18A>G
|
|
|
|
NM_001267550.2(TTN):c.20554+20A>G
|
|
|
|
NM_001267550.2(TTN):c.20554+9A>C
|
rs1060503960
|
|
|
NM_001267550.2(TTN):c.20554+9A>G
|
|
|
|
NM_001267550.2(TTN):c.20555-16A>G
|
|
|
|
NM_001267550.2(TTN):c.20555-18C>T
|
|
|
|
NM_001267550.2(TTN):c.20555-4T>C
|
rs781011511
|
|
|
NM_001267550.2(TTN):c.20555-6G>T
|
|
|
|
NM_001267550.2(TTN):c.20555-7T>C
|
|
|
|
NM_001267550.2(TTN):c.20595T>C (p.Val6865=)
|
|
|
|
NM_001267550.2(TTN):c.20610T>A (p.Pro6870=)
|
|
|
|
NM_001267550.2(TTN):c.20622A>G (p.Gln6874=)
|
|
|
|
NM_001267550.2(TTN):c.20622del (p.Ala6875fs)
|
rs2079200580
|
|
|
NM_001267550.2(TTN):c.20625A>G (p.Ala6875=)
|
|
|
|
NM_001267550.2(TTN):c.20626T>A (p.Ser6876Thr)
|
rs1359024577
|
|
|
NM_001267550.2(TTN):c.20667A>G (p.Lys6889=)
|
|
|
|
NM_001267550.2(TTN):c.20667del (p.Glu6890fs)
|
|
|
|
NM_001267550.2(TTN):c.20670G>A (p.Glu6890=)
|
rs1553915541
|
|
|
NM_001267550.2(TTN):c.20673G>A (p.Lys6891=)
|
rs1371108599
|
|
|
NM_001267550.2(TTN):c.20707A>G (p.Ile6903Val)
|
rs571675433
|
|
|
NM_001267550.2(TTN):c.20719del (p.Glu6907fs)
|
|
|
|
NM_001267550.2(TTN):c.20736A>G (p.Leu6912=)
|
rs876657600
|
|
|
NM_001267550.2(TTN):c.20738del (p.Gln6913fs)
|
rs2154304293
|
|
|
NM_001267550.2(TTN):c.2073A>T (p.Gly691=)
|
rs72647860
|
|
|
NM_001267550.2(TTN):c.20745A>C (p.Ala6915=)
|
rs2154304288
|
|
|
NM_001267550.2(TTN):c.20757A>C (p.Pro6919=)
|
rs2154304283
|
|
|
NM_001267550.2(TTN):c.2076+13_2076+15del
|
rs777562481
|
|
|
NM_001267550.2(TTN):c.2076+7A>C
|
|
|
|
NM_001267550.2(TTN):c.2076+7A>G
|
|
|
|
NM_001267550.2(TTN):c.20769A>G (p.Gly6923=)
|
|
|
|
NM_001267550.2(TTN):c.2076G>A (p.Lys692=)
|
rs1333188525
|
|
|
NM_001267550.2(TTN):c.2077-12C>A
|
rs988316772
|
|
|
NM_001267550.2(TTN):c.2077-16G>A
|
rs2154351791
|
|
|
NM_001267550.2(TTN):c.2077-4C>T
|
rs2093161554
|
|
|
NM_001267550.2(TTN):c.20814C>T (p.Asn6938=)
|
rs886043772
|
|
|
NM_001267550.2(TTN):c.20823A>G (p.Thr6941=)
|
|
|
|
NM_001267550.2(TTN):c.20824C>T (p.Leu6942=)
|
rs1346037211
|
|
|
NM_001267550.2(TTN):c.20826G>C (p.Leu6942=)
|
rs2154304248
|
|
|
NM_001267550.2(TTN):c.20836+11T>C
|
|
|
|
NM_001267550.2(TTN):c.20836+17A>G
|
|
|
|
NM_001267550.2(TTN):c.20836+1G>T
|
|
|
|
NM_001267550.2(TTN):c.20836+2T>C
|
rs776932740
|
|
|
NM_001267550.2(TTN):c.20836+7A>C
|
rs923732569
|
|
|
NM_001267550.2(TTN):c.20837-12G>T
|
|
|
|
NM_001267550.2(TTN):c.20837-1G>A
|
rs1553914337
|
|
|
NM_001267550.2(TTN):c.20837-20G>T
|
|
|
|
NM_001267550.2(TTN):c.2083G>T (p.Val695Phe)
|
rs747479318
|
|
|
NM_001267550.2(TTN):c.20847C>T (p.Val6949=)
|
|
|
|
NM_001267550.2(TTN):c.20859G>A (p.Lys6953=)
|
|
|
|
NM_001267550.2(TTN):c.20868G>T (p.Pro6956=)
|
|
|
|
NM_001267550.2(TTN):c.2086G>T (p.Gly696Ter)
|
|
|
|
NM_001267550.2(TTN):c.20874G>C (p.Thr6958=)
|
|
|
|
NM_001267550.2(TTN):c.2088A>G (p.Gly696=)
|
|
|
|
NM_001267550.2(TTN):c.20892G>C (p.Thr6964=)
|
rs727504623
|
|
|
NM_001267550.2(TTN):c.20895C>T (p.Cys6965=)
|
|
|
|
NM_001267550.2(TTN):c.20901G>A (p.Leu6967=)
|
rs2154303631
|
|
|
NM_001267550.2(TTN):c.20931C>G (p.Leu6977=)
|
|
|
|
NM_001267550.2(TTN):c.2093del (p.Lys698fs)
|
rs2154351778
|
|
|
NM_001267550.2(TTN):c.2094G>A (p.Lys698=)
|
rs1574821724
|
|
|
NM_001267550.2(TTN):c.20959C>T (p.Leu6987=)
|
|
|
|
NM_001267550.2(TTN):c.20970C>T (p.Ser6990=)
|
|
|
|
NM_001267550.2(TTN):c.20985A>G (p.Lys6995=)
|
rs2154303574
|
|
|
NM_001267550.2(TTN):c.209del (p.Val70fs)
|
rs2094105154
|
|
|
NM_001267550.2(TTN):c.21000C>T (p.Asn7000=)
|
rs2154303562
|
|
|
NM_001267550.2(TTN):c.21006del (p.Ser7003fs)
|
|
|
|
NM_001267550.2(TTN):c.21012C>T (p.Ser7004=)
|
|
|
|
NM_001267550.2(TTN):c.21014T>G (p.Leu7005Ter)
|
|
|
|
NM_001267550.2(TTN):c.21045A>G (p.Ala7015=)
|
|
|
|
NM_001267550.2(TTN):c.21051A>C (p.Thr7017=)
|
|
|
|
NM_001267550.2(TTN):c.21051A>G (p.Thr7017=)
|
|
|
|
NM_001267550.2(TTN):c.21051A>T (p.Thr7017=)
|
|
|
|
NM_001267550.2(TTN):c.2106A>T (p.Val702=)
|
|
|
|
NM_001267550.2(TTN):c.21072T>C (p.Asn7024=)
|
|
|
|
NM_001267550.2(TTN):c.21075T>C (p.Asn7025=)
|
|
|
|
NM_001267550.2(TTN):c.21114A>C (p.Ser7038=)
|
rs879237670
|
|
|
NM_001267550.2(TTN):c.21115+10G>A
|
|
|
|
NM_001267550.2(TTN):c.21115+13G>A
|
|
|
|
NM_001267550.2(TTN):c.21115+17T>C
|
|
|
|
NM_001267550.2(TTN):c.21116-17T>A
|
rs2154303373
|
|
|
NM_001267550.2(TTN):c.21116-4del
|
rs1553913568
|
|
|
NM_001267550.2(TTN):c.21116-6A>C
|
|
|
|
NM_001267550.2(TTN):c.21126T>C (p.Val7042=)
|
|
|
|
NM_001267550.2(TTN):c.21147A>G (p.Arg7049=)
|
|
|
|
NM_001267550.2(TTN):c.21162T>C (p.Gly7054=)
|
rs1553913456
|
|
|
NM_001267550.2(TTN):c.21165G>T (p.Gly7055=)
|
|
|
|
NM_001267550.2(TTN):c.21216T>C (p.Pro7072=)
|
rs2154303288
|
|
|
NM_001267550.2(TTN):c.21220del (p.Ser7074fs)
|
rs2078907250
|
|
|
NM_001267550.2(TTN):c.21222A>T (p.Ser7074=)
|
|
|
|
NM_001267550.2(TTN):c.21228C>T (p.Ala7076=)
|
rs2154303274
|
|
|
NM_001267550.2(TTN):c.21237T>C (p.His7079=)
|
|
|
|
NM_001267550.2(TTN):c.21246C>T (p.Thr7082=)
|
rs1553913320
|
|
|
NM_001267550.2(TTN):c.21249G>A (p.Lys7083=)
|
|
|
|
NM_001267550.2(TTN):c.21291T>A (p.Asn7097Lys)
|
rs773211607
|
|
|
NM_001267550.2(TTN):c.21300A>G (p.Thr7100=)
|
|
|
|
NM_001267550.2(TTN):c.21307T>C (p.Leu7103=)
|
|
|
|
NM_001267550.2(TTN):c.2130C>T (p.Asp710=)
|
rs1001032041
|
|
|
NM_001267550.2(TTN):c.21345A>C (p.Thr7115=)
|
rs758613310
|
|
|
NM_001267550.2(TTN):c.21345A>G (p.Thr7115=)
|
|
|
|
NM_001267550.2(TTN):c.21351G>A (p.Val7117=)
|
|
|
|
NM_001267550.2(TTN):c.21357T>C (p.Ala7119=)
|
|
|
|
NM_001267550.2(TTN):c.21375T>C (p.Asp7125=)
|
|
|
|
NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp)
|
rs786205315
|
|
|
NM_001267550.2(TTN):c.2137C>A (p.Arg713=)
|
rs727505277
|
|
|
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter)
|
rs727505277
|
|
|
NM_001267550.2(TTN):c.21381T>C (p.Cys7127=)
|
rs2154303179
|
|
|
NM_001267550.2(TTN):c.21399A>G (p.Val7133=)
|
|
|
|
NM_001267550.2(TTN):c.2139A>T (p.Arg713=)
|
rs1340458399
|
|
|
NM_001267550.2(TTN):c.21403+10C>T
|
rs2154303147
|
|
|
NM_001267550.2(TTN):c.21403+14C>A
|
rs2078868212
|
|
|
NM_001267550.2(TTN):c.21403+2T>G
|
|
|
|
NM_001267550.2(TTN):c.21403+5G>A
|
rs1560709207
|
|
|
NM_001267550.2(TTN):c.21403+7A>G
|
rs2154303156
|
|
|
NM_001267550.2(TTN):c.21403+8G>T
|
|
|
|
NM_001267550.2(TTN):c.21403+9A>G
|
|
|
|
NM_001267550.2(TTN):c.21403G>A (p.Glu7135Lys)
|
rs779787316
|
|
|
NM_001267550.2(TTN):c.21404-16C>G
|
|
|
|
NM_001267550.2(TTN):c.21404-1G>C
|
|
|
|
NM_001267550.2(TTN):c.21404-3_21404-1delinsA
|
rs2078833835
|
|
|
NM_001267550.2(TTN):c.21404-3dup
|
|
|
|
NM_001267550.2(TTN):c.21404-5T>C
|
|
|
|
NM_001267550.2(TTN):c.21404-6A>C
|
|
|
|
NM_001267550.2(TTN):c.21404-6A>G
|
|
|
|
NM_001267550.2(TTN):c.21444A>G (p.Val7148=)
|
rs1578047350
|
|
|
NM_001267550.2(TTN):c.21450A>G (p.Pro7150=)
|
rs2154302980
|
|
|
NM_001267550.2(TTN):c.21453C>G (p.Gly7151=)
|
rs1450991403
|
|
|
NM_001267550.2(TTN):c.21474C>T (p.Ser7158=)
|
rs1229825752
|
|
|
NM_001267550.2(TTN):c.21483A>G (p.Arg7161=)
|
|
|
|
NM_001267550.2(TTN):c.21488C>A (p.Thr7163Asn)
|
rs370324138
|
|
|
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=)
|
rs376882041
|
|
|
NM_001267550.2(TTN):c.21489C>T (p.Thr7163=)
|
rs376882041
|
|
|
NM_001267550.2(TTN):c.21495A>T (p.Pro7165=)
|
|
|
|
NM_001267550.2(TTN):c.21501A>G (p.Lys7167=)
|
|
|
|
NM_001267550.2(TTN):c.21507del (p.Trp7170fs)
|
rs1578046154
|
|
|
NM_001267550.2(TTN):c.21528A>G (p.Glu7176=)
|
|
|
|
NM_001267550.2(TTN):c.21534G>A (p.Val7178=)
|
|
|
|
NM_001267550.2(TTN):c.21546G>T (p.Arg7182=)
|
rs2154302911
|
|
|
NM_001267550.2(TTN):c.21573G>A (p.Val7191=)
|
rs1553912562
|
|
|
NM_001267550.2(TTN):c.21612T>C (p.Ser7204=)
|
|
|
|
NM_001267550.2(TTN):c.21621C>T (p.Tyr7207=)
|
rs2154302853
|
|
|
NM_001267550.2(TTN):c.2162G>C (p.Gly721Ala)
|
rs1554022851
|
|
|
NM_001267550.2(TTN):c.2163G>A (p.Gly721=)
|
|
|
|
NM_001267550.2(TTN):c.21641A>G (p.Asn7214Ser)
|
rs755600935
|
|
|
NM_001267550.2(TTN):c.21654A>G (p.Ala7218=)
|
|
|
|
NM_001267550.2(TTN):c.21663T>A (p.Thr7221=)
|
rs748183491
|
|
|
NM_001267550.2(TTN):c.21666C>T (p.Thr7222=)
|
rs1041546705
|
|
|
NM_001267550.2(TTN):c.2166T>C (p.His722=)
|
rs1574820671
|
|
|
NM_001267550.2(TTN):c.21682+14G>T
|
rs2154302806
|
|
|
NM_001267550.2(TTN):c.21682+15A>T
|
|
|
|
NM_001267550.2(TTN):c.21682+18C>T
|
|
|
|
NM_001267550.2(TTN):c.21683-17G>T
|
rs2154302746
|
|
|
NM_001267550.2(TTN):c.21683-2A>G
|
|
|
|
NM_001267550.2(TTN):c.21693A>G (p.Ala7231=)
|
rs2154302727
|
|
|
NM_001267550.2(TTN):c.216A>G (p.Lys72=)
|
rs2094104663
|
|
|
NM_001267550.2(TTN):c.21705A>T (p.Arg7235Ser)
|
rs772506057
|
|
|
NM_001267550.2(TTN):c.21720T>C (p.Ser7240=)
|
|
|
|
NM_001267550.2(TTN):c.21738C>T (p.Ser7246=)
|
|
|
|
NM_001267550.2(TTN):c.21747G>C (p.Leu7249=)
|
rs1578040198
|
|
|
NM_001267550.2(TTN):c.21753C>T (p.Ser7251=)
|
rs957819653
|
|
|
NM_001267550.2(TTN):c.21788G>A (p.Trp7263Ter)
|
|
|
|
NM_001267550.2(TTN):c.21795G>A (p.Lys7265=)
|
rs2078724173
|
|
|
NM_001267550.2(TTN):c.21799G>A (p.Gly7267Ser)
|
rs772450876
|
|
|
NM_001267550.2(TTN):c.2181T>C (p.Tyr727=)
|
|
|
|
NM_001267550.2(TTN):c.21833_21834del (p.Ile7278fs)
|
rs2154302656
|
|
|
NM_001267550.2(TTN):c.21843A>G (p.Thr7281=)
|
|
|
|
NM_001267550.2(TTN):c.21852T>C (p.Thr7284=)
|
rs1254391142
|
|
|
NM_001267550.2(TTN):c.21855T>C (p.Cys7285=)
|
rs2154302640
|
|
|
NM_001267550.2(TTN):c.21861G>A (p.Leu7287=)
|
|
|
|
NM_001267550.2(TTN):c.21861G>T (p.Leu7287=)
|
|
|
|
NM_001267550.2(TTN):c.21879A>T (p.Thr7293=)
|
rs756470925
|
|
|
NM_001267550.2(TTN):c.21907G>C (p.Glu7303Gln)
|
rs774950387
|
|
|
NM_001267550.2(TTN):c.21912del (p.Ile7304fs)
|
rs2078700148
|
|
|
NM_001267550.2(TTN):c.21914A>C (p.Glu7305Ala)
|
rs1553911785
|
|
|
NM_001267550.2(TTN):c.21915A>G (p.Glu7305=)
|
|
|
|
NM_001267550.2(TTN):c.21961+12T>C
|
rs2154302588
|
|
|
NM_001267550.2(TTN):c.21961+19T>A
|
|
|
|
NM_001267550.2(TTN):c.21961+1G>C
|
rs2078690809
|
|
|
NM_001267550.2(TTN):c.21961G>T (p.Glu7321Ter)
|
|
|
|
NM_001267550.2(TTN):c.21962-14C>A
|
|
|
|
NM_001267550.2(TTN):c.21964C>T (p.Pro7322Ser)
|
rs1553911632
|
|
|
NM_001267550.2(TTN):c.21966G>C (p.Pro7322=)
|
rs773546767
|
|
|
NM_001267550.2(TTN):c.21981G>C (p.Thr7327=)
|
rs775230627
|
|
|
NM_001267550.2(TTN):c.22008T>G (p.Val7336=)
|
rs976920570
|
|
|
NM_001267550.2(TTN):c.22024T>G (p.Leu7342Val)
|
rs1243764269
|
|
|
NM_001267550.2(TTN):c.22027C>T (p.Gln7343Ter)
|
rs886043434
|
|
|
NM_001267550.2(TTN):c.22034_22037del (p.Gln7345fs)
|
|
|
|
NM_001267550.2(TTN):c.22039G>A (p.Ala7347Thr)
|
rs1553911494
|
|
|
NM_001267550.2(TTN):c.22041T>C (p.Ala7347=)
|
|
|
|
NM_001267550.2(TTN):c.22044G>A (p.Gly7348=)
|
rs1578033219
|
|
|
NM_001267550.2(TTN):c.22044G>C (p.Gly7348=)
|
rs1578033219
|
|
|
NM_001267550.2(TTN):c.22056T>C (p.Ile7352=)
|
|
|
|
NM_001267550.2(TTN):c.22065T>C (p.Ser7355=)
|
rs2154302426
|
|
|
NM_001267550.2(TTN):c.22092G>C (p.Arg7364=)
|
rs2154302395
|
|
|
NM_001267550.2(TTN):c.22107C>T (p.Tyr7369=)
|
|
|
|
NM_001267550.2(TTN):c.22113C>A (p.Thr7371=)
|
rs2154302379
|
|
|
NM_001267550.2(TTN):c.22134C>T (p.Ala7378=)
|
rs879172660
|
|
|
NM_001267550.2(TTN):c.22145_22146del (p.Val7381_Phe7382insTer)
|
rs794727888
|
|
|
NM_001267550.2(TTN):c.22146T>C (p.Phe7382=)
|
rs2154302354
|
|
|
NM_001267550.2(TTN):c.2214G>A (p.Lys738=)
|
|
|
|
NM_001267550.2(TTN):c.22164T>C (p.Asn7388=)
|
|
|
|
NM_001267550.2(TTN):c.2218C>A (p.Arg740Ser)
|
rs566299753
|
|
|
NM_001267550.2(TTN):c.22215T>C (p.Ser7405=)
|
rs1578030754
|
|
|
NM_001267550.2(TTN):c.22236T>C (p.Ile7412=)
|
|
|
|
NM_001267550.2(TTN):c.22240+1G>A
|
rs2078612090
|
|
|
NM_001267550.2(TTN):c.22241-4A>G
|
|
|
|
NM_001267550.2(TTN):c.22242G>A (p.Glu7414=)
|
rs1422386133
|
|
|
NM_001267550.2(TTN):c.2226C>A (p.Ser742=)
|
rs151025677
|
|
|
NM_001267550.2(TTN):c.2226C>T (p.Ser742=)
|
rs151025677
|
|
|
NM_001267550.2(TTN):c.22273_22276del (p.Leu7425fs)
|
rs1553910811
|
|
|
NM_001267550.2(TTN):c.22278G>A (p.Lys7426=)
|
rs758185616
|
|
|
NM_001267550.2(TTN):c.2228C>T (p.Ala743Val)
|
rs267607157
|
|
|
NM_001267550.2(TTN):c.22293T>G (p.Thr7431=)
|
|
|
|
NM_001267550.2(TTN):c.22293_22303del (p.Val7432fs)
|
rs1560692247
|
|
|
NM_001267550.2(TTN):c.22299G>A (p.Gly7433=)
|
|
|
|
NM_001267550.2(TTN):c.22305T>C (p.Pro7435=)
|
rs1578026327
|
|
|
NM_001267550.2(TTN):c.22309dup (p.Thr7437fs)
|
rs2154302053
|
|
|
NM_001267550.2(TTN):c.22311A>G (p.Thr7437=)
|
|
|
|
NM_001267550.2(TTN):c.22321C>T (p.Arg7441Ter)
|
|
|
|
NM_001267550.2(TTN):c.22343T>C (p.Ile7448Thr)
|
rs878854293
|
|
|
NM_001267550.2(TTN):c.22344C>A (p.Ile7448=)
|
rs2154302021
|
|
|
NM_001267550.2(TTN):c.22356G>A (p.Trp7452Ter)
|
rs2078556781
|
|
|
NM_001267550.2(TTN):c.22371A>G (p.Val7457=)
|
|
|
|
NM_001267550.2(TTN):c.22384_22385delinsCG (p.Asp7462Arg)
|
rs1060500493
|
|
|
NM_001267550.2(TTN):c.22386T>C (p.Asp7462=)
|
|
|
|
NM_001267550.2(TTN):c.22393C>T (p.Leu7465=)
|
rs1578024879
|
|
|
NM_001267550.2(TTN):c.22401T>A (p.Thr7467=)
|
rs2154301978
|
|
|
NM_001267550.2(TTN):c.22419G>A (p.Val7473=)
|
rs767338909
|
|
|
NM_001267550.2(TTN):c.22425T>C (p.Thr7475=)
|
|
|
|
NM_001267550.2(TTN):c.22427T>A (p.Leu7476Ter)
|
|
|
|
NM_001267550.2(TTN):c.22449G>A (p.Leu7483=)
|
rs1295926782
|
|
|
NM_001267550.2(TTN):c.22461C>T (p.Gly7487=)
|
|
|
|
NM_001267550.2(TTN):c.22488A>C (p.Pro7496=)
|
|
|
|
NM_001267550.2(TTN):c.22528+12C>T
|
rs756012779
|
|
|
NM_001267550.2(TTN):c.22528+13G>A
|
rs191694576
|
|
|
NM_001267550.2(TTN):c.22528+15C>T
|
|
|
|
NM_001267550.2(TTN):c.22528+17C>G
|
|
|
|
NM_001267550.2(TTN):c.22528+20T>C
|
|
|
|
NM_001267550.2(TTN):c.22528+4del
|
rs1578022549
|
|
|
NM_001267550.2(TTN):c.22528G>T (p.Glu7510Ter)
|
|
|
|
NM_001267550.2(TTN):c.22529-10C>T
|
rs777294088
|
|
|
NM_001267550.2(TTN):c.22529-16T>C
|
|
|
|
NM_001267550.2(TTN):c.22566A>T (p.Val7522=)
|
rs1578019256
|
|
|
NM_001267550.2(TTN):c.22587A>C (p.Gly7529=)
|
rs751294966
|
|
|
NM_001267550.2(TTN):c.22596T>C (p.Ala7532=)
|
|
|
|
NM_001267550.2(TTN):c.22599T>C (p.Asp7533=)
|
rs1553909923
|
|
|
NM_001267550.2(TTN):c.22620T>C (p.Gly7540=)
|
rs1553909881
|
|
|
NM_001267550.2(TTN):c.22620T>G (p.Gly7540=)
|
|
|
|
NM_001267550.2(TTN):c.2264C>T (p.Ser755Leu)
|
rs533384820
|
|
|
NM_001267550.2(TTN):c.22680C>T (p.Asn7560=)
|
|
|
|
NM_001267550.2(TTN):c.22693T>C (p.Cys7565Arg)
|
rs757611239
|
|
|
NM_001267550.2(TTN):c.22704C>T (p.Asn7568=)
|
|
|
|
NM_001267550.2(TTN):c.2271C>T (p.Pro757=)
|
rs2154351694
|
|
|
NM_001267550.2(TTN):c.22724_22725dup (p.Lys7576fs)
|
rs2154301477
|
|
|
NM_001267550.2(TTN):c.22725_22726insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTCTTCTGCGTCGCTCACGTTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCGAGAATTCTT (p.Lys7576delinsPhePhePhePhePhePheXaaXaaXaaXaaProSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGluAsnSerTer)
|
rs2154301480
|
|
|
NM_001267550.2(TTN):c.22746T>C (p.Ser7582=)
|
rs2154301461
|
|
|
NM_001267550.2(TTN):c.22755T>C (p.Tyr7585=)
|
|
|
|
NM_001267550.2(TTN):c.22776T>C (p.Asp7592=)
|
rs2154301453
|
|
|
NM_001267550.2(TTN):c.2277T>C (p.Val759=)
|
|
|
|
NM_001267550.2(TTN):c.22789_22790del (p.Met7597fs)
|
rs1211248610
|
|
|
NM_001267550.2(TTN):c.22816+10C>A
|
|
|
|
NM_001267550.2(TTN):c.22816+14A>C
|
|
|
|
NM_001267550.2(TTN):c.22816+7T>G
|
rs1578014851
|
|
|
NM_001267550.2(TTN):c.22824A>G (p.Pro7608=)
|
rs2154301096
|
|
|
NM_001267550.2(TTN):c.22827G>A (p.Lys7609=)
|
|
|
|
NM_001267550.2(TTN):c.22878T>C (p.Ile7626=)
|
rs2154301068
|
|
|
NM_001267550.2(TTN):c.22881A>G (p.Gln7627=)
|
rs1417736563
|
|
|
NM_001267550.2(TTN):c.22888T>C (p.Cys7630Arg)
|
rs1553908536
|
|
|
NM_001267550.2(TTN):c.22907del (p.Pro7636fs)
|
rs2078291953
|
|
|
NM_001267550.2(TTN):c.22923A>C (p.Ser7641=)
|
|
|
|
NM_001267550.2(TTN):c.22923A>G (p.Ser7641=)
|
rs1276005134
|
|
|
NM_001267550.2(TTN):c.22938C>T (p.Asp7646=)
|
|
|
|
NM_001267550.2(TTN):c.22941C>T (p.Ser7647=)
|
rs544355195
|
|
|
NM_001267550.2(TTN):c.22950T>C (p.His7650=)
|
rs1044130083
|
|
|
NM_001267550.2(TTN):c.22953A>G (p.Glu7651=)
|
rs1019776974
|
|
|
NM_001267550.2(TTN):c.22965C>T (p.Tyr7655=)
|
rs771515112
|
|
|
NM_001267550.2(TTN):c.22973C>A (p.Ser7658Ter)
|
|
|
|
NM_001267550.2(TTN):c.22974A>G (p.Ser7658=)
|
|
|
|
NM_001267550.2(TTN):c.22989G>T (p.Val7663=)
|
rs1026619304
|
|
|
NM_001267550.2(TTN):c.23000C>G (p.Thr7667Arg)
|
rs374430623
|
|
|
NM_001267550.2(TTN):c.23010A>G (p.Glu7670=)
|
rs2154301002
|
|
|
NM_001267550.2(TTN):c.23013T>C (p.Ala7671=)
|
|
|
|
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr)
|
rs552951988
|
|
|
NM_001267550.2(TTN):c.23049T>C (p.Ala7683=)
|
rs766992688
|
|
|
NM_001267550.2(TTN):c.23052T>C (p.His7684=)
|
rs1553908123
|
|
|
NM_001267550.2(TTN):c.23068G>T (p.Ala7690Ser)
|
rs763029699
|
|
|
NM_001267550.2(TTN):c.23082A>G (p.Thr7694=)
|
rs2154300967
|
|
|
NM_001267550.2(TTN):c.23085G>T (p.Ala7695=)
|
rs768936623
|
|
|
NM_001267550.2(TTN):c.23094G>C (p.Val7698=)
|
rs886042288
|
|
|
NM_001267550.2(TTN):c.23098+13A>C
|
rs2154300940
|
|
|
NM_001267550.2(TTN):c.23098+19C>G
|
|
|
|
NM_001267550.2(TTN):c.23098+19_23098+22del
|
rs778593283
|
|
|
NM_001267550.2(TTN):c.23098+1G>T
|
rs2154300949
|
|
|
NM_001267550.2(TTN):c.23098+20T>C
|
|
|
|
NM_001267550.2(TTN):c.23098+3del
|
rs2154300948
|
|
|
NM_001267550.2(TTN):c.23098+9C>T
|
|
|
|
NM_001267550.2(TTN):c.23099-18T>C
|
|
|
|
NM_001267550.2(TTN):c.23099-2A>G
|
rs2154300788
|
|
|
NM_001267550.2(TTN):c.23099-8dup
|
|
|
|
NM_001267550.2(TTN):c.23106T>C (p.Pro7702=)
|
|
|
|
NM_001267550.2(TTN):c.2310G>A (p.Gln770=)
|
|
|
|
NM_001267550.2(TTN):c.23115C>G (p.Thr7705=)
|
|
|
|
NM_001267550.2(TTN):c.23127T>G (p.Ser7709=)
|
rs779291226
|
|
|
NM_001267550.2(TTN):c.23145A>G (p.Lys7715=)
|
|
|
|
NM_001267550.2(TTN):c.23148T>C (p.Gly7716=)
|
|
|
|
NM_001267550.2(TTN):c.23154T>C (p.Asp7718=)
|
rs2154300759
|
|
|
NM_001267550.2(TTN):c.23163C>A (p.Leu7721=)
|
|
|
|
NM_001267550.2(TTN):c.23166A>G (p.Gln7722=)
|
|
|
|
NM_001267550.2(TTN):c.23184T>G (p.Thr7728=)
|
|
|
|
NM_001267550.2(TTN):c.23199A>T (p.Val7733=)
|
rs1169967369
|
|
|
NM_001267550.2(TTN):c.23202A>G (p.Val7734=)
|
|
|
|
NM_001267550.2(TTN):c.23204G>A (p.Trp7735Ter)
|
|
|
|
NM_001267550.2(TTN):c.2320G>A (p.Glu774Lys)
|
rs1554022511
|
|
|
NM_001267550.2(TTN):c.23214T>C (p.Asp7738=)
|
rs727503648
|
|
|
NM_001267550.2(TTN):c.23215C>A (p.Arg7739=)
|
rs372250586
|
|
|
NM_001267550.2(TTN):c.23273dup (p.Ser7758fs)
|
rs2154300674
|
|
|
NM_001267550.2(TTN):c.23283C>A (p.Ile7761=)
|
rs2154300667
|
|
|
NM_001267550.2(TTN):c.23286T>A (p.Leu7762=)
|
rs1553907203
|
|
|
NM_001267550.2(TTN):c.23304T>C (p.Asp7768=)
|
|
|
|
NM_001267550.2(TTN):c.23305G>A (p.Val7769Ile)
|
rs1553907172
|
|
|
NM_001267550.2(TTN):c.23340G>T (p.Val7780=)
|
|
|
|
NM_001267550.2(TTN):c.23361C>T (p.Cys7787=)
|
|
|
|
NM_001267550.2(TTN):c.23364T>C (p.Ser7788=)
|
|
|
|
NM_001267550.2(TTN):c.23369dup (p.Phe7791fs)
|
|
|
|
NM_001267550.2(TTN):c.23373C>A (p.Phe7791Leu)
|
rs1553907020
|
|
|
NM_001267550.2(TTN):c.23377+14G>C
|
|
|
|
NM_001267550.2(TTN):c.23377+17A>G
|
|
|
|
NM_001267550.2(TTN):c.23377+2T>C
|
rs2154300619
|
|
|
NM_001267550.2(TTN):c.23378-12T>G
|
rs2154300543
|
|
|
NM_001267550.2(TTN):c.23378-14del
|
rs751632918
|
|
|
NM_001267550.2(TTN):c.23378-20C>T
|
rs2154300550
|
|
|
NM_001267550.2(TTN):c.23378-5A>G
|
|
|
|
NM_001267550.2(TTN):c.23394G>A (p.Val7798=)
|
rs758745049
|
|
|
NM_001267550.2(TTN):c.23399dup (p.Leu7801fs)
|
|
|
|
NM_001267550.2(TTN):c.23400G>A (p.Lys7800=)
|
rs1488627887
|
|
|
NM_001267550.2(TTN):c.23418C>T (p.Thr7806=)
|
|
|
|
NM_001267550.2(TTN):c.2341G>T (p.Asp781Tyr)
|
rs1554022470
|
|
|
NM_001267550.2(TTN):c.23427G>A (p.Gly7809=)
|
rs2154300504
|
|
|
NM_001267550.2(TTN):c.23443C>A (p.Arg7815=)
|
rs528264100
|
|
|
NM_001267550.2(TTN):c.23443C>T (p.Arg7815Trp)
|
rs528264100
|
|
|
NM_001267550.2(TTN):c.23467C>A (p.Pro7823Thr)
|
rs768540966
|
|
|
NM_001267550.2(TTN):c.23472T>A (p.Ile7824=)
|
rs2154300485
|
|
|
NM_001267550.2(TTN):c.23493T>C (p.Asp7831=)
|
|
|
|
NM_001267550.2(TTN):c.23526C>T (p.Thr7842=)
|
|
|
|
NM_001267550.2(TTN):c.23535A>T (p.Ser7845=)
|
|
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
|
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=)
|
rs149523263
|
|
|
NM_001267550.2(TTN):c.23553A>G (p.Ala7851=)
|
|
|
|
NM_001267550.2(TTN):c.23580A>G (p.Ala7860=)
|
|
|
|
NM_001267550.2(TTN):c.23608dup (p.Ile7870fs)
|
rs2154300414
|
|
|
NM_001267550.2(TTN):c.23649G>A (p.Leu7883=)
|
rs2154300398
|
|
|
NM_001267550.2(TTN):c.23655A>G (p.Val7885=)
|
rs2154300392
|
|
|
NM_001267550.2(TTN):c.23659+16C>T
|
|
|
|
NM_001267550.2(TTN):c.23659+19C>T
|
|
|
|
NM_001267550.2(TTN):c.23660-13CTT[2]
|
rs563250569
|
|
|
NM_001267550.2(TTN):c.23660-7C>G
|
|
|
|
NM_001267550.2(TTN):c.23660-8T>C
|
|
|
|
NM_001267550.2(TTN):c.23685C>G (p.Pro7895=)
|
rs755534186
|
|
|
NM_001267550.2(TTN):c.23688A>G (p.Glu7896=)
|
|
|
|
NM_001267550.2(TTN):c.23694G>A (p.Met7898Ile)
|
rs751897366
|
|
|
NM_001267550.2(TTN):c.2370+10T>A
|
|
|
|
NM_001267550.2(TTN):c.2370+10T>C
|
rs2154351635
|
|
|
NM_001267550.2(TTN):c.2370+15G>A
|
|
|
|
NM_001267550.2(TTN):c.2370+5G>A
|
|
|
|
NM_001267550.2(TTN):c.2370+5G>C
|
rs1554022409
|
|
|
NM_001267550.2(TTN):c.2370+7C>G
|
|
|
|
NM_001267550.2(TTN):c.2370+8T>A
|
rs1574817057
|
|
|
NM_001267550.2(TTN):c.2370+8T>C
|
rs1574817057
|
|
|
NM_001267550.2(TTN):c.2370+8T>G
|
rs1574817057
|
|
|
NM_001267550.2(TTN):c.2370G>A (p.Gln790=)
|
|
|
|
NM_001267550.2(TTN):c.2371-11T>A
|
rs2154351584
|
|
|
NM_001267550.2(TTN):c.2371-15T>C
|
|
|
|
NM_001267550.2(TTN):c.2371-16T>C
|
|
|
|
NM_001267550.2(TTN):c.2371-2A>G
|
|
|
|
NM_001267550.2(TTN):c.2371-4G>A
|
rs1574815067
|
|
|
NM_001267550.2(TTN):c.2371-7A>T
|
rs2154351583
|
|
|
NM_001267550.2(TTN):c.23721A>G (p.Ala7907=)
|
rs2154300254
|
|
|
NM_001267550.2(TTN):c.23729G>T (p.Cys7910Phe)
|
rs763596594
|
|
|
NM_001267550.2(TTN):c.23742A>C (p.Gly7914=)
|
|
|
|
NM_001267550.2(TTN):c.23797A>G (p.Ser7933Gly)
|
rs1553905723
|
|
|
NM_001267550.2(TTN):c.23811del (p.Thr7938fs)
|
|
|
|
NM_001267550.2(TTN):c.23817C>G (p.Phe7939Leu)
|
rs866647945
|
|
|
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=)
|
rs201766927
|
|
|
NM_001267550.2(TTN):c.23853C>T (p.Ala7951=)
|
rs201766927
|
|
|
NM_001267550.2(TTN):c.2389C>T (p.Leu797=)
|
rs1574814717
|
|
|
NM_001267550.2(TTN):c.23925C>A (p.Ser7975=)
|
|
|
|
NM_001267550.2(TTN):c.23931T>C (p.His7977=)
|
rs1340162231
|
|
|
NM_001267550.2(TTN):c.23938+17T>A
|
|
|
|
NM_001267550.2(TTN):c.23938+19T>G
|
|
|
|
NM_001267550.2(TTN):c.23938+7A>G
|
|
|
|
NM_001267550.2(TTN):c.23939-14C>T
|
|
|
|
NM_001267550.2(TTN):c.23939-18C>T
|
|
|
|
NM_001267550.2(TTN):c.23939-1G>T
|
|
|
|
NM_001267550.2(TTN):c.23939-4A>G
|
rs775692859
|
|
|
NM_001267550.2(TTN):c.23939-5C>T
|
rs1214280183
|
|
|
NM_001267550.2(TTN):c.23939-6A>C
|
|
|
|
NM_001267550.2(TTN):c.23939-8C>G
|
|
|
|
NM_001267550.2(TTN):c.2393_2394del (p.Thr798fs)
|
rs1060500528
|
|
|
NM_001267550.2(TTN):c.23943G>A (p.Arg7981=)
|
|
|
|
NM_001267550.2(TTN):c.23947G>A (p.Val7983Met)
|
rs1060500564
|
|
|
NM_001267550.2(TTN):c.23949G>A (p.Val7983=)
|
|
|
|
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)
|
rs149061352
|
|
|
NM_001267550.2(TTN):c.23970G>A (p.Lys7990=)
|
rs1553905164
|
|
|
NM_001267550.2(TTN):c.2397G>C (p.Thr799=)
|
rs369313128
|
|
|
NM_001267550.2(TTN):c.23996G>C (p.Gly7999Ala)
|
rs750389762
|
|
|
NM_001267550.2(TTN):c.23998del (p.Ala8000fs)
|
rs2154300048
|
|
|
NM_001267550.2(TTN):c.24015G>A (p.Glu8005=)
|
|
|
|
NM_001267550.2(TTN):c.24019C>T (p.Arg8007Ter)
|
rs794727941
|
|
|
NM_001267550.2(TTN):c.24033A>C (p.Ser8011=)
|
rs2154300026
|
|
|
NM_001267550.2(TTN):c.24037C>A (p.Pro8013Thr)
|
rs1553904936
|
|
|
NM_001267550.2(TTN):c.24045A>T (p.Ser8015=)
|
rs1060503946
|
|
|
NM_001267550.2(TTN):c.2404T>C (p.Leu802=)
|
|
|
|
NM_001267550.2(TTN):c.24072G>A (p.Glu8024=)
|
rs745438982
|
|
|
NM_001267550.2(TTN):c.24075T>C (p.Ile8025=)
|
rs371496970
|
|
|
NM_001267550.2(TTN):c.24075del (p.Ile8025fs)
|
rs2154300014
|
|
|
NM_001267550.2(TTN):c.24102C>T (p.Ser8034=)
|
rs2154299995
|
|
|
NM_001267550.2(TTN):c.24120T>C (p.Cys8040=)
|
|
|
|
NM_001267550.2(TTN):c.24132G>A (p.Leu8044=)
|
rs1377086549
|
|
|
NM_001267550.2(TTN):c.24137T>C (p.Leu8046Ser)
|
rs1553904761
|
|
|
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=)
|
rs749823104
|
|
|
NM_001267550.2(TTN):c.24156A>T (p.Thr8052=)
|
rs749823104
|
|
|
NM_001267550.2(TTN):c.24174G>T (p.Val8058=)
|
rs1553904651
|
|
|
NM_001267550.2(TTN):c.24183T>C (p.Asn8061=)
|
|
|
|
NM_001267550.2(TTN):c.24186A>G (p.Val8062=)
|
rs1439021321
|
|
|
NM_001267550.2(TTN):c.24216G>T (p.Leu8072=)
|
|
|
|
NM_001267550.2(TTN):c.24219T>A (p.Thr8073=)
|
|
|
|
NM_001267550.2(TTN):c.24226+13G>A
|
|
|
|
NM_001267550.2(TTN):c.24226+19A>G
|
|
|
|
NM_001267550.2(TTN):c.24226+20del
|
rs2154299927
|
|
|
NM_001267550.2(TTN):c.24226+5G>T
|
rs2077956888
|
|
|
NM_001267550.2(TTN):c.24226+9G>A
|
|
|
|
NM_001267550.2(TTN):c.24226G>A (p.Glu8076Lys)
|
|
|
|
NM_001267550.2(TTN):c.24227-2A>G
|
|
|
|
NM_001267550.2(TTN):c.24227-4C>T
|
|
|
|
NM_001267550.2(TTN):c.24227-5T>C
|
|
|
|
NM_001267550.2(TTN):c.24228A>G (p.Glu8076=)
|
rs2154299826
|
|
|
NM_001267550.2(TTN):c.24244C>T (p.Gln8082Ter)
|
|
|
|
NM_001267550.2(TTN):c.24249C>A (p.Thr8083=)
|
|
|
|
NM_001267550.2(TTN):c.24253G>A (p.Asp8085Asn)
|
rs1553904192
|
|
|
NM_001267550.2(TTN):c.2427C>A (p.Pro809=)
|
|
|
|
NM_001267550.2(TTN):c.24294C>A (p.Thr8098=)
|
rs2154299797
|
|
|
NM_001267550.2(TTN):c.24303C>T (p.Ile8101=)
|
|
|
|
NM_001267550.2(TTN):c.24324G>A (p.Lys8108=)
|
|
|
|
NM_001267550.2(TTN):c.24352C>T (p.Leu8118=)
|
|
|
|
NM_001267550.2(TTN):c.24354G>T (p.Leu8118=)
|
|
|
|
NM_001267550.2(TTN):c.2435C>T (p.Ala812Val)
|
rs372040052
|
|
|
NM_001267550.2(TTN):c.24363G>A (p.Gly8121=)
|
rs2154299764
|
|
|
NM_001267550.2(TTN):c.24375C>T (p.Asn8125=)
|
rs2154299754
|
|
|
NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter)
|
rs727504843
|
|
|
NM_001267550.2(TTN):c.24396C>A (p.Val8132=)
|
|
|
|
NM_001267550.2(TTN):c.24396C>G (p.Val8132=)
|
|
|
|
NM_001267550.2(TTN):c.24408G>A (p.Glu8136=)
|
|
|
|
NM_001267550.2(TTN):c.2442T>C (p.Pro814=)
|
|
|
|
NM_001267550.2(TTN):c.24441C>T (p.Asp8147=)
|
rs2154299720
|
|
|
NM_001267550.2(TTN):c.24447_24450del (p.Cys8150fs)
|
rs2077885583
|
|
|
NM_001267550.2(TTN):c.24468T>A (p.Ala8156=)
|
|
|
|
NM_001267550.2(TTN):c.24477T>C (p.Ala8159=)
|
rs2154299701
|
|
|
NM_001267550.2(TTN):c.24505+14C>T
|
rs2154299679
|
|
|
NM_001267550.2(TTN):c.24506-14T>C
|
|
|
|
NM_001267550.2(TTN):c.24506-17A>G
|
rs2154299621
|
|
|
NM_001267550.2(TTN):c.24506-19A>C
|
|
|
|
NM_001267550.2(TTN):c.24506-20C>T
|
|
|
|
NM_001267550.2(TTN):c.24506-4A>G
|
|
|
|
NM_001267550.2(TTN):c.24506-7C>T
|
|
|
|
NM_001267550.2(TTN):c.24513C>G (p.Ala8171=)
|
rs1020696119
|
|
|
NM_001267550.2(TTN):c.24529T>C (p.Leu8177=)
|
|
|
|
NM_001267550.2(TTN):c.24552A>T (p.Thr8184=)
|
rs2154299584
|
|
|
NM_001267550.2(TTN):c.24570C>T (p.Leu8190=)
|
rs752689161
|
|
|
NM_001267550.2(TTN):c.2457A>T (p.Ser819=)
|
rs1574813852
|
|
|
NM_001267550.2(TTN):c.24582C>T (p.Tyr8194=)
|
rs1577961198
|
|
|
NM_001267550.2(TTN):c.24594T>A (p.Pro8198=)
|
rs2154299570
|
|
|
NM_001267550.2(TTN):c.24597A>G (p.Pro8199=)
|
|
|
|
NM_001267550.2(TTN):c.24611G>A (p.Trp8204Ter)
|
|
|
|
NM_001267550.2(TTN):c.24624G>A (p.Glu8208=)
|
rs755684790
|
|
|
NM_001267550.2(TTN):c.24636A>G (p.Ser8212=)
|
rs1553903322
|
|
|
NM_001267550.2(TTN):c.24697del (p.Ser8233fs)
|
|
|
|
NM_001267550.2(TTN):c.24699C>T (p.Ser8233=)
|
|
|
|
NM_001267550.2(TTN):c.24708_24710del (p.Glu8236del)
|
rs771555243
|
|
|
NM_001267550.2(TTN):c.2472T>C (p.Pro824=)
|
rs2154351536
|
|
|
NM_001267550.2(TTN):c.24732G>A (p.Leu8244=)
|
rs1577958756
|
|
|
NM_001267550.2(TTN):c.24784+13C>A
|
rs2154299467
|
|
|
NM_001267550.2(TTN):c.24784+16C>A
|
|
|
|
NM_001267550.2(TTN):c.24784+17C>T
|
|
|
|
NM_001267550.2(TTN):c.24784+3G>A
|
rs2154299473
|
|
|
NM_001267550.2(TTN):c.24785-20T>C
|
|
|
|
NM_001267550.2(TTN):c.24785-4A>G
|
rs2077791135
|
|
|
NM_001267550.2(TTN):c.24785-8T>C
|
rs2154299410
|
|
|
NM_001267550.2(TTN):c.24795C>T (p.Tyr8265=)
|
rs776344275
|
|
|
NM_001267550.2(TTN):c.24811G>T (p.Glu8271Ter)
|
|
|
|
NM_001267550.2(TTN):c.2481A>G (p.Glu827=)
|
|
|
|
NM_001267550.2(TTN):c.24828C>T (p.Val8276=)
|
rs2154299390
|
|
|
NM_001267550.2(TTN):c.24834A>C (p.Gly8278=)
|
rs2154299384
|
|
|
NM_001267550.2(TTN):c.24861G>A (p.Val8287=)
|
rs1577954833
|
|
|
NM_001267550.2(TTN):c.24865G>T (p.Gly8289Ter)
|
rs1577954678
|
|
|
NM_001267550.2(TTN):c.24879T>C (p.Ile8293=)
|
rs1221548315
|
|
|
NM_001267550.2(TTN):c.24888T>G (p.Ser8296=)
|
rs535603112
|
|
|
NM_001267550.2(TTN):c.24890G>A (p.Trp8297Ter)
|
rs2154299355
|
|
|
NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys)
|
rs727504205
|
|
|
NM_001267550.2(TTN):c.24900A>G (p.Glu8300=)
|
|
|
|
NM_001267550.2(TTN):c.2493+10T>C
|
rs2154351516
|
|
|
NM_001267550.2(TTN):c.2493+17C>T
|
|
|
|
NM_001267550.2(TTN):c.2493+8G>T
|
rs1574813372
|
|
|
NM_001267550.2(TTN):c.24933A>G (p.Lys8311=)
|
|
|
|
NM_001267550.2(TTN):c.2494-11T>A
|
rs780529677
|
|
|
NM_001267550.2(TTN):c.2494-13dup
|
|
|
|
NM_001267550.2(TTN):c.2494-16C>T
|
rs532479339
|
|
|
NM_001267550.2(TTN):c.24946_24947delinsT (p.Asn8316fs)
|
rs1577952992
|
|
|
NM_001267550.2(TTN):c.24960C>T (p.Ser8320=)
|
rs1057522331
|
|
|
NM_001267550.2(TTN):c.24962T>C (p.Leu8321Ser)
|
rs1577952583
|
|
|
NM_001267550.2(TTN):c.24972C>A (p.Asn8324Lys)
|
rs879030954
|
|
|
NM_001267550.2(TTN):c.24972C>T (p.Asn8324=)
|
|
|
|
NM_001267550.2(TTN):c.25006T>C (p.Cys8336Arg)
|
rs2154299294
|
|
|
NM_001267550.2(TTN):c.25011G>A (p.Lys8337=)
|
rs2077753718
|
|
|
NM_001267550.2(TTN):c.2502A>G (p.Ile834Met)
|
rs752214647
|
|
|
NM_001267550.2(TTN):c.25037C>T (p.Ala8346Val)
|
rs747055472
|
|
|
NM_001267550.2(TTN):c.25053T>G (p.Leu8351=)
|
|
|
|
NM_001267550.2(TTN):c.25056T>C (p.Val8352=)
|
rs757546548
|
|
|
NM_001267550.2(TTN):c.25059C>T (p.Ile8353=)
|
|
|
|
NM_001267550.2(TTN):c.25063+16A>T
|
|
|
|
NM_001267550.2(TTN):c.25063+18C>A
|
|
|
|
NM_001267550.2(TTN):c.25063+1G>A
|
rs754247415
|
|
|
NM_001267550.2(TTN):c.25063+5T>A
|
rs1553902318
|
|
|
NM_001267550.2(TTN):c.25064-1G>A
|
|
|
|
NM_001267550.2(TTN):c.25064-2A>G
|
|
|
|
NM_001267550.2(TTN):c.2506G>T (p.Gly836Cys)
|
rs751157908
|
|
|
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)
|
rs200972189
|
|
|
NM_001267550.2(TTN):c.25104C>T (p.Asp8368=)
|
rs369089044
|
|
|
NM_001267550.2(TTN):c.25105G>A (p.Val8369Ile)
|
rs755722481
|
|
|
NM_001267550.2(TTN):c.25116T>C (p.Thr8372=)
|
|
|
|
NM_001267550.2(TTN):c.25117_25118del (p.Leu8373fs)
|
rs2077711392
|
|
|
NM_001267550.2(TTN):c.25128A>C (p.Pro8376=)
|
|
|
|
NM_001267550.2(TTN):c.25143C>T (p.Cys8381=)
|
|
|
|
NM_001267550.2(TTN):c.25154G>C (p.Gly8385Ala)
|
rs775560531
|
|
|
NM_001267550.2(TTN):c.25158A>G (p.Ser8386=)
|
|
|
|
NM_001267550.2(TTN):c.25194T>C (p.Val8398=)
|
rs2077699413
|
|
|
NM_001267550.2(TTN):c.25219C>T (p.Gln8407Ter)
|
|
|
|
NM_001267550.2(TTN):c.25224A>G (p.Thr8408=)
|
|
|
|
NM_001267550.2(TTN):c.25245A>C (p.Ala8415=)
|
|
|
|
NM_001267550.2(TTN):c.25249C>T (p.Leu8417Phe)
|
rs774234445
|
|
|
NM_001267550.2(TTN):c.25270C>G (p.Gln8424Glu)
|
rs370668637
|
|
|
NM_001267550.2(TTN):c.25317G>A (p.Gly8439=)
|
rs2154299072
|
|
|
NM_001267550.2(TTN):c.25326A>G (p.Ser8442=)
|
rs370936663
|
|
|
NM_001267550.2(TTN):c.25326A>T (p.Ser8442=)
|
|
|
|
NM_001267550.2(TTN):c.25329C>T (p.Ser8443=)
|
rs1270174085
|
|
|
NM_001267550.2(TTN):c.25347C>G (p.Leu8449=)
|
|
|
|
NM_001267550.2(TTN):c.25347C>T (p.Leu8449=)
|
|
|
|
NM_001267550.2(TTN):c.25351+11C>G
|
|
|
|
NM_001267550.2(TTN):c.25351+13C>T
|
|
|
|
NM_001267550.2(TTN):c.25351+15_25351+17dup
|
|
|
|
NM_001267550.2(TTN):c.25351+20C>T
|
|
|
|
NM_001267550.2(TTN):c.25351+4A>G
|
|
|
|
NM_001267550.2(TTN):c.25351+5G>A
|
|
|
|
NM_001267550.2(TTN):c.25351+9C>T
|
rs72648985
|
|
|
NM_001267550.2(TTN):c.25362G>A (p.Val8454=)
|
|
|
|
NM_001267550.2(TTN):c.2536T>C (p.Leu846=)
|
|
|
|
NM_001267550.2(TTN):c.25389A>C (p.Val8463=)
|
rs376181650
|
|
|
NM_001267550.2(TTN):c.25389A>G (p.Val8463=)
|
|
|
|
NM_001267550.2(TTN):c.25389A>T (p.Val8463=)
|
rs376181650
|
|
|
NM_001267550.2(TTN):c.25416T>C (p.Ser8472=)
|
rs879039947
|
|
|
NM_001267550.2(TTN):c.25452A>G (p.Pro8484=)
|
rs2154298918
|
|
|
NM_001267550.2(TTN):c.25464T>C (p.Thr8488=)
|
|
|
|
NM_001267550.2(TTN):c.25476T>A (p.Asp8492Glu)
|
rs777349143
|
|
|
NM_001267550.2(TTN):c.25476T>C (p.Asp8492=)
|
rs777349143
|
|
|
NM_001267550.2(TTN):c.2547A>G (p.Thr849=)
|
rs1554020540
|
|
|
NM_001267550.2(TTN):c.25480C>T (p.Arg8494Ter)
|
rs794727945
|
|
|
NM_001267550.2(TTN):c.25491C>T (p.Arg8497=)
|
rs1577937623
|
|
|
NM_001267550.2(TTN):c.25530T>C (p.Thr8510=)
|
rs2154298881
|
|
|
NM_001267550.2(TTN):c.25533C>G (p.Ala8511=)
|
rs2154298879
|
|
|
NM_001267550.2(TTN):c.25554A>T (p.Val8518=)
|
|
|
|
NM_001267550.2(TTN):c.25566T>C (p.Asp8522=)
|
rs2154298870
|
|
|
NM_001267550.2(TTN):c.2557C>T (p.Gln853Ter)
|
|
|
|
NM_001267550.2(TTN):c.25600G>T (p.Ala8534Ser)
|
rs779163897
|
|
|
NM_001267550.2(TTN):c.25623T>C (p.Ala8541=)
|
|
|
|
NM_001267550.2(TTN):c.25629G>A (p.Leu8543=)
|
rs2154298839
|
|
|
NM_001267550.2(TTN):c.25639+16A>G
|
|
|
|
NM_001267550.2(TTN):c.25639+18G>C
|
|
|
|
NM_001267550.2(TTN):c.25639+20A>C
|
|
|
|
NM_001267550.2(TTN):c.25639+2T>C
|
rs769452066
|
|
|
NM_001267550.2(TTN):c.25639G>C (p.Glu8547Gln)
|
rs1060500447
|
|
|
NM_001267550.2(TTN):c.25640-10G>C
|
rs2077388786
|
|
|
NM_001267550.2(TTN):c.25640-9G>T
|
rs2154297996
|
|
|
NM_001267550.2(TTN):c.25647C>A (p.Pro8549=)
|
rs2154297990
|
|
|
NM_001267550.2(TTN):c.25653C>T (p.Phe8551=)
|
|
|
|
NM_001267550.2(TTN):c.25662_25663delinsTT (p.Lys8554Asn)
|
rs1553898915
|
|
|
NM_001267550.2(TTN):c.25665A>G (p.Leu8555=)
|
|
|
|
NM_001267550.2(TTN):c.25707_25708inv (p.Glu8570Lys)
|
|
|
|
NM_001267550.2(TTN):c.25710A>G (p.Glu8570=)
|
rs1286326979
|
|
|
NM_001267550.2(TTN):c.25713C>T (p.Cys8571=)
|
|
|
|
NM_001267550.2(TTN):c.2571A>G (p.Lys857=)
|
|
|
|
NM_001267550.2(TTN):c.25739_25740del (p.Lys8580fs)
|
|
|
|
NM_001267550.2(TTN):c.2574G>A (p.Ser858=)
|
rs1265382651
|
|
|
NM_001267550.2(TTN):c.2575del (p.Ser858_Val859insTer)
|
|
|
|
NM_001267550.2(TTN):c.25765G>T (p.Glu8589Ter)
|
|
|
|
NM_001267550.2(TTN):c.25773A>G (p.Gln8591=)
|
rs1577913380
|
|
|
NM_001267550.2(TTN):c.25776G>A (p.Glu8592=)
|
|
|
|
NM_001267550.2(TTN):c.25806C>T (p.Asp8602=)
|
|
|
|
NM_001267550.2(TTN):c.25842T>A (p.Val8614=)
|
rs2154297894
|
|
|
NM_001267550.2(TTN):c.25842T>C (p.Val8614=)
|
|
|
|
NM_001267550.2(TTN):c.25869G>A (p.Glu8623=)
|
rs1053333216
|
|
|
NM_001267550.2(TTN):c.2586T>G (p.Pro862=)
|
rs2093007488
|
|
|
NM_001267550.2(TTN):c.25893C>G (p.Ala8631=)
|
rs761767317
|
|
|
NM_001267550.2(TTN):c.2589T>C (p.Thr863=)
|
rs794727178
|
|
|
NM_001267550.2(TTN):c.258T>C (p.Ser86=)
|
rs2154359818
|
|
|
NM_001267550.2(TTN):c.25921+11T>C
|
|
|
|
NM_001267550.2(TTN):c.25921+15C>G
|
rs746391473
|
|
|
NM_001267550.2(TTN):c.25921+7G>A
|
rs780204398
|
|
|
NM_001267550.2(TTN):c.25921G>A (p.Glu8641Lys)
|
rs1553898323
|
|
|
NM_001267550.2(TTN):c.25922-11T>C
|
|
|
|
NM_001267550.2(TTN):c.25922-11del
|
rs1479661386
|
|
|
NM_001267550.2(TTN):c.25922-11dup
|
|
|
|
NM_001267550.2(TTN):c.25922-1G>C
|
rs2154297723
|
|
|
NM_001267550.2(TTN):c.25922-6T>C
|
rs796983452
|
|
|
NM_001267550.2(TTN):c.25926A>G (p.Pro8642=)
|
rs778135509
|
|
|
NM_001267550.2(TTN):c.25929C>G (p.Pro8643=)
|
rs2154297713
|
|
|
NM_001267550.2(TTN):c.25937G>T (p.Arg8646Leu)
|
rs144587343
|
|
|
NM_001267550.2(TTN):c.25938C>A (p.Arg8646=)
|
rs2154297706
|
|
|
NM_001267550.2(TTN):c.25956A>G (p.Ile8652Met)
|
rs760452917
|
|
|
NM_001267550.2(TTN):c.25959G>A (p.Glu8653=)
|
rs879235743
|
|
|
NM_001267550.2(TTN):c.2595G>A (p.Lys865=)
|
|
|
|
NM_001267550.2(TTN):c.25962A>G (p.Thr8654=)
|
rs1577905357
|
|
|
NM_001267550.2(TTN):c.25971A>T (p.Gly8657=)
|
rs1060500547
|
|
|
NM_001267550.2(TTN):c.25995G>A (p.Glu8665=)
|
|
|
|
NM_001267550.2(TTN):c.26004C>A (p.Gly8668=)
|
rs2154297672
|
|
|
NM_001267550.2(TTN):c.2601T>C (p.Ser867=)
|
|
|
|
NM_001267550.2(TTN):c.2601dup (p.Glu868Ter)
|
|
|
|
NM_001267550.2(TTN):c.26028G>A (p.Trp8676Ter)
|
rs794729389
|
|
|
NM_001267550.2(TTN):c.26028del (p.Trp8676fs)
|
rs758533436
|
|
|
NM_001267550.2(TTN):c.2604G>A (p.Glu868=)
|
rs1459799128
|
|
|
NM_001267550.2(TTN):c.26055C>T (p.Ser8685=)
|
rs727505250
|
|
|
NM_001267550.2(TTN):c.26064G>A (p.Lys8688=)
|
rs1057523745
|
|
|
NM_001267550.2(TTN):c.26067C>G (p.Tyr8689Ter)
|
rs377125716
|
|
|
NM_001267550.2(TTN):c.26068A>C (p.Lys8690Gln)
|
rs1060500411
|
|
|
NM_001267550.2(TTN):c.2607T>C (p.Thr869=)
|
rs143969192
|
|
|
NM_001267550.2(TTN):c.26081A>C (p.Glu8694Ala)
|
rs1553897407
|
|
|
NM_001267550.2(TTN):c.26093C>G (p.Thr8698Ser)
|
rs1060500461
|
|
|
NM_001267550.2(TTN):c.26094C>A (p.Thr8698=)
|
rs1553897341
|
|
|
NM_001267550.2(TTN):c.26103C>T (p.His8701=)
|
|
|
|
NM_001267550.2(TTN):c.26115C>G (p.Val8705=)
|
rs1165178870
|
|
|
NM_001267550.2(TTN):c.26118_26119del (p.Ala8707fs)
|
rs2077273106
|
|
|
NM_001267550.2(TTN):c.26124A>G (p.Ala8708=)
|
rs879199507
|
|
|
NM_001267550.2(TTN):c.26142G>A (p.Gln8714=)
|
rs2077266939
|
|
|
NM_001267550.2(TTN):c.26144G>T (p.Cys8715Phe)
|
rs183499397
|
|
|
NM_001267550.2(TTN):c.26157T>C (p.Asn8719=)
|
rs878854294
|
|
|
NM_001267550.2(TTN):c.26160T>C (p.Asp8720=)
|
|
|
|
NM_001267550.2(TTN):c.26161G>A (p.Val8721Met)
|
rs777730788
|
|
|
NM_001267550.2(TTN):c.26170G>A (p.Asp8724Asn)
|
rs756034176
|
|
|
NM_001267550.2(TTN):c.26189T>A (p.Ile8730Asn)
|
rs1060500488
|
|
|
NM_001267550.2(TTN):c.26190C>T (p.Ile8730=)
|
rs1419862291
|
|
|
NM_001267550.2(TTN):c.26200+13G>A
|
|
|
|
NM_001267550.2(TTN):c.26200+18C>G
|
|
|
|
NM_001267550.2(TTN):c.26200+19A>G
|
|
|
|
NM_001267550.2(TTN):c.26200+7T>G
|
|
|
|
NM_001267550.2(TTN):c.26201-13C>T
|
rs727505138
|
|
|
NM_001267550.2(TTN):c.26201-18T>C
|
|
|
|
NM_001267550.2(TTN):c.26201-4T>A
|
rs2154297269
|
|
|
NM_001267550.2(TTN):c.26201-9T>C
|
rs559145312
|
|
|
NM_001267550.2(TTN):c.26226C>T (p.Leu8742=)
|
|
|
|
NM_001267550.2(TTN):c.26232C>T (p.Asp8744=)
|
|
|
|
NM_001267550.2(TTN):c.26240del (p.Thr8747fs)
|
rs1553896398
|
|
|
NM_001267550.2(TTN):c.26241T>G (p.Thr8747=)
|
rs2154297247
|
|
|
NM_001267550.2(TTN):c.26250T>C (p.Gly8750=)
|
rs199904773
|
|
|
NM_001267550.2(TTN):c.26261A>T (p.Gln8754Leu)
|
rs1060500568
|
|
|
NM_001267550.2(TTN):c.26286T>C (p.Ala8762=)
|
|
|
|
NM_001267550.2(TTN):c.26287G>T (p.Glu8763Ter)
|
rs2077159790
|
|
|
NM_001267550.2(TTN):c.2628del (p.Leu878fs)
|
|
|
|
NM_001267550.2(TTN):c.26292C>A (p.Pro8764=)
|
|
|
|
NM_001267550.2(TTN):c.26301G>A (p.Val8767=)
|
rs567685488
|
|
|
NM_001267550.2(TTN):c.26301G>T (p.Val8767=)
|
|
|
|
NM_001267550.2(TTN):c.26316T>C (p.Asp8772=)
|
|
|
|
NM_001267550.2(TTN):c.26328C>T (p.Ile8776=)
|
|
|
|
NM_001267550.2(TTN):c.26379C>T (p.Thr8793=)
|
rs768535816
|
|
|
NM_001267550.2(TTN):c.2637A>G (p.Pro879=)
|
|
|
|
NM_001267550.2(TTN):c.26394A>G (p.Arg8798=)
|
|
|
|
NM_001267550.2(TTN):c.26400A>G (p.Glu8800=)
|
rs745721315
|
|
|
NM_001267550.2(TTN):c.26409T>C (p.Asn8803=)
|
rs749331163
|
|
|
NM_001267550.2(TTN):c.2640_2656del (p.Gln880fs)
|
|
|
|
NM_001267550.2(TTN):c.26421C>T (p.Tyr8807=)
|
|
|
|
NM_001267550.2(TTN):c.26433C>A (p.Ile8811=)
|
|
|
|
NM_001267550.2(TTN):c.26448G>A (p.Gly8816=)
|
rs968514546
|
|
|
NM_001267550.2(TTN):c.26469G>A (p.Thr8823=)
|
rs775381639
|
|
|
NM_001267550.2(TTN):c.26469G>T (p.Thr8823=)
|
rs775381639
|
|
|
NM_001267550.2(TTN):c.2646C>G (p.Pro882=)
|
|
|
|
NM_001267550.2(TTN):c.2646C>T (p.Pro882=)
|
|
|
|
NM_001267550.2(TTN):c.26470C>T (p.Leu8824=)
|
|
|
|
NM_001267550.2(TTN):c.26475C>T (p.Ser8825=)
|
rs774217877
|
|
|
NM_001267550.2(TTN):c.26482+11A>C
|
|
|
|
NM_001267550.2(TTN):c.26482+15G>T
|
|
|
|
NM_001267550.2(TTN):c.26482+16A>G
|
|
|
|
NM_001267550.2(TTN):c.26482+18G>A
|
|
|
|
NM_001267550.2(TTN):c.26482+19T>A
|
rs370931286
|
|
|
NM_001267550.2(TTN):c.26482+1G>A
|
rs1440418037
|
|
|
NM_001267550.2(TTN):c.26482+5G>A
|
rs1060500590
|
|
|
NM_001267550.2(TTN):c.26482G>T (p.Glu8828Ter)
|
rs778206438
|
|
|
NM_001267550.2(TTN):c.26483-14A>G
|
|
|
|
NM_001267550.2(TTN):c.26484G>A (p.Glu8828=)
|
|
|
|
NM_001267550.2(TTN):c.26538C>G (p.Thr8846=)
|
rs1382963511
|
|
|
NM_001267550.2(TTN):c.26544C>T (p.Thr8848=)
|
rs1185075181
|
|
|
NM_001267550.2(TTN):c.26553T>C (p.Cys8851=)
|
rs1553895388
|
|
|
NM_001267550.2(TTN):c.26568C>A (p.Thr8856=)
|
|
|
|
NM_001267550.2(TTN):c.26574_26581dup (p.Thr8861fs)
|
rs2077097661
|
|
|
NM_001267550.2(TTN):c.26595G>A (p.Lys8865=)
|
|
|
|
NM_001267550.2(TTN):c.26601A>G (p.Gly8867=)
|
rs2154296997
|
|
|
NM_001267550.2(TTN):c.26607G>A (p.Glu8869=)
|
rs747118425
|
|
|
NM_001267550.2(TTN):c.2661A>G (p.Pro887=)
|
|
|
|
NM_001267550.2(TTN):c.26624A>T (p.Lys8875Ile)
|
|
|
|
NM_001267550.2(TTN):c.26637C>T (p.Ser8879=)
|
|
|
|
NM_001267550.2(TTN):c.2663_2669delinsCTTCAC (p.Asp888fs)
|
rs2093000714
|
|
|
NM_001267550.2(TTN):c.26643C>T (p.Phe8881=)
|
rs982955034
|
|
|
NM_001267550.2(TTN):c.2664T>C (p.Asp888=)
|
|
|
|
NM_001267550.2(TTN):c.26682G>C (p.Pro8894=)
|
|
|
|
NM_001267550.2(TTN):c.26703T>C (p.Ser8901=)
|
|
|
|
NM_001267550.2(TTN):c.26719C>T (p.Pro8907Ser)
|
rs764261158
|
|
|
NM_001267550.2(TTN):c.26730A>G (p.Lys8910=)
|
|
|
|
NM_001267550.2(TTN):c.26739C>T (p.Cys8913=)
|
|
|
|
NM_001267550.2(TTN):c.2673G>A (p.Lys891=)
|
|
|
|
NM_001267550.2(TTN):c.26749T>C (p.Leu8917=)
|
rs2154296946
|
|
|
NM_001267550.2(TTN):c.26754G>A (p.Gln8918=)
|
rs1060503939
|
|
|
NM_001267550.2(TTN):c.26761+19C>T
|
|
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTGTTG
|
|
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA
|
rs1553893826
|
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTTTTGTTTTT
|
|
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTTTTT
|
rs1553893827
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[10]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[12]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[3]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[4]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[5]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[7]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[8]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[9]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-4T>C
|
|
|
|
NM_001267550.2(TTN):c.26762-8_26762-7insTTGTG
|
|
|
|
NM_001267550.2(TTN):c.26762-9A>T
|
|
|
|
NM_001267550.2(TTN):c.26762-9delins34
|
|
|
|
NM_001267550.2(TTN):c.26764C>T (p.Arg8922Ter)
|
rs1250796004
|
|
|
NM_001267550.2(TTN):c.26790A>G (p.Arg8930=)
|
|
|
|
NM_001267550.2(TTN):c.267G>T (p.Ala89=)
|
rs577716745
|
|
|
NM_001267550.2(TTN):c.26800G>T (p.Glu8934Ter)
|
|
|
|
NM_001267550.2(TTN):c.26811T>A (p.Gly8937=)
|
rs2154296548
|
|
|
NM_001267550.2(TTN):c.26811T>C (p.Gly8937=)
|
|
|
|
NM_001267550.2(TTN):c.26817C>A (p.Ser8939=)
|
|
|
|
NM_001267550.2(TTN):c.2685C>A (p.Gly895=)
|
rs139501351
|
|
|
NM_001267550.2(TTN):c.26868T>C (p.Ser8956=)
|
rs778211975
|
|
|
NM_001267550.2(TTN):c.26871C>T (p.Val8957=)
|
|
|
|
NM_001267550.2(TTN):c.26874C>T (p.Ser8958=)
|
|
|
|
NM_001267550.2(TTN):c.26895G>A (p.Glu8965=)
|
rs867921731
|
|
|
NM_001267550.2(TTN):c.26898C>A (p.Ile8966=)
|
rs377763876
|
|
|
NM_001267550.2(TTN):c.26901T>C (p.Ser8967=)
|
rs2076922924
|
|
|
NM_001267550.2(TTN):c.26905_26906del (p.Gly8969fs)
|
rs2154296494
|
|
|
NM_001267550.2(TTN):c.26907A>G (p.Gly8969=)
|
rs1560589117
|
|
|
NM_001267550.2(TTN):c.26926del (p.Thr8975_Leu8976insTer)
|
rs2154296486
|
|
|
NM_001267550.2(TTN):c.2694G>T (p.Val898=)
|
|
|
|
NM_001267550.2(TTN):c.26952del (p.Thr8984_Val8985insTer)
|
|
|
|
NM_001267550.2(TTN):c.26979T>C (p.Ser8993=)
|
rs531162850
|
|
|
NM_001267550.2(TTN):c.26991A>C (p.Thr8997=)
|
rs61232800
|
|
|
NM_001267550.2(TTN):c.27030T>A (p.Ser9010Arg)
|
rs774115714
|
|
|
NM_001267550.2(TTN):c.27049+11A>C
|
rs2076897331
|
|
|
NM_001267550.2(TTN):c.27050-11T>G
|
|
|
|
NM_001267550.2(TTN):c.27050-14G>T
|
rs2154296334
|
|
|
NM_001267550.2(TTN):c.27050-8G>C
|
|
|
|
NM_001267550.2(TTN):c.27050-9del
|
rs888604866
|
|
|
NM_001267550.2(TTN):c.27090T>A (p.Val9030=)
|
|
|
|
NM_001267550.2(TTN):c.27121A>G (p.Ile9041Val)
|
rs1395755933
|
|
|
NM_001267550.2(TTN):c.27123C>A (p.Ile9041=)
|
rs890920556
|
|
|
NM_001267550.2(TTN):c.27144C>T (p.Phe9048=)
|
rs2154296285
|
|
|
NM_001267550.2(TTN):c.27168del (p.Ser9056fs)
|
rs2076867354
|
|
|
NM_001267550.2(TTN):c.2716A>G (p.Ile906Val)
|
rs1304074202
|
|
|
NM_001267550.2(TTN):c.27186T>C (p.Gly9062=)
|
rs745874179
|
|
|
NM_001267550.2(TTN):c.27198C>T (p.Asn9066=)
|
|
|
|
NM_001267550.2(TTN):c.27201G>T (p.Val9067=)
|
|
|
|
NM_001267550.2(TTN):c.2721T>G (p.Thr907=)
|
|
|
|
NM_001267550.2(TTN):c.27224_27228del (p.Glu9075fs)
|
rs1553892376
|
|
|
NM_001267550.2(TTN):c.27310_27314del (p.Thr9104fs)
|
|
|
|
NM_001267550.2(TTN):c.27328+10A>C
|
|
|
|
NM_001267550.2(TTN):c.27328+12T>C
|
|
|
|
NM_001267550.2(TTN):c.27328+15T>C
|
|
|
|
NM_001267550.2(TTN):c.27328+19C>T
|
|
|
|
NM_001267550.2(TTN):c.27328+1del
|
|
|
|
NM_001267550.2(TTN):c.27328+9G>A
|
rs2154296204
|
|
|
NM_001267550.2(TTN):c.27328G>A (p.Ala9110Thr)
|
rs2076840796
|
|
|
NM_001267550.2(TTN):c.27329-12del
|
|
|
|
NM_001267550.2(TTN):c.27329-1del
|
|
|
|
NM_001267550.2(TTN):c.2733C>T (p.Val911=)
|
rs1554019951
|
|
|
NM_001267550.2(TTN):c.27366C>T (p.Ser9122=)
|
rs771307666
|
|
|
NM_001267550.2(TTN):c.27375A>G (p.Lys9125=)
|
|
|
|
NM_001267550.2(TTN):c.27382C>A (p.Pro9128Thr)
|
rs1283675898
|
|
|
NM_001267550.2(TTN):c.27385dup (p.Leu9129fs)
|
|
|
|
NM_001267550.2(TTN):c.27399T>C (p.Gly9133=)
|
rs2154296085
|
|
|
NM_001267550.2(TTN):c.273T>C (p.Ser91=)
|
|
|
|
NM_001267550.2(TTN):c.27402A>T (p.Thr9134=)
|
rs2154296080
|
|
|
NM_001267550.2(TTN):c.27414T>G (p.Thr9138=)
|
|
|
|
NM_001267550.2(TTN):c.27426G>T (p.Ser9142=)
|
rs368081453
|
|
|
NM_001267550.2(TTN):c.27429T>C (p.Val9143=)
|
rs753291492
|
|
|
NM_001267550.2(TTN):c.2744G>C (p.Arg915Pro)
|
rs376922544
|
|
|
NM_001267550.2(TTN):c.27466C>T (p.Gln9156Ter)
|
rs2076800953
|
|
|
NM_001267550.2(TTN):c.27471G>A (p.Arg9157=)
|
|
|
|
NM_001267550.2(TTN):c.27486G>A (p.Thr9162=)
|
rs2154296046
|
|
|
NM_001267550.2(TTN):c.27495dup (p.Ser9166fs)
|
|
|
|
NM_001267550.2(TTN):c.27498G>T (p.Ser9166=)
|
rs372528823
|
|
|
NM_001267550.2(TTN):c.27513del (p.Pro9172fs)
|
rs794729378
|
|
|
NM_001267550.2(TTN):c.27528A>G (p.Val9176=)
|
|
|
|
NM_001267550.2(TTN):c.27531G>A (p.Glu9177=)
|
rs1339109006
|
|
|
NM_001267550.2(TTN):c.27532G>T (p.Asp9178Tyr)
|
rs727504202
|
|
|
NM_001267550.2(TTN):c.27543A>G (p.Gln9181=)
|
rs2076791641
|
|
|
NM_001267550.2(TTN):c.27546C>T (p.Tyr9182=)
|
rs769151285
|
|
|
NM_001267550.2(TTN):c.27567C>T (p.Ala9189=)
|
rs1266472796
|
|
|
NM_001267550.2(TTN):c.27570T>C (p.Ser9190=)
|
|
|
|
NM_001267550.2(TTN):c.27585T>C (p.Cys9195=)
|
rs1280673837
|
|
|
NM_001267550.2(TTN):c.27591A>G (p.Ala9197=)
|
rs1212226110
|
|
|
NM_001267550.2(TTN):c.27607+18A>T
|
|
|
|
NM_001267550.2(TTN):c.27607+5G>A
|
rs2154295977
|
|
|
NM_001267550.2(TTN):c.27608-10T>C
|
|
|
|
NM_001267550.2(TTN):c.27608-17A>C
|
rs1308718630
|
|
|
NM_001267550.2(TTN):c.27608-17A>T
|
|
|
|
NM_001267550.2(TTN):c.27608-19T>G
|
|
|
|
NM_001267550.2(TTN):c.27608-21_27608-18del
|
rs760040610
|
|
|
NM_001267550.2(TTN):c.27608-4G>A
|
rs2076763407
|
|
|
NM_001267550.2(TTN):c.27648G>A (p.Val9216=)
|
|
|
|
NM_001267550.2(TTN):c.27663T>C (p.Ser9221=)
|
rs2154295886
|
|
|
NM_001267550.2(TTN):c.27672A>G (p.Leu9224=)
|
|
|
|
NM_001267550.2(TTN):c.27684T>G (p.Leu9228=)
|
|
|
|
NM_001267550.2(TTN):c.27693C>T (p.Thr9231=)
|
|
|
|
NM_001267550.2(TTN):c.276T>G (p.Thr92=)
|
|
|
|
NM_001267550.2(TTN):c.27711C>A (p.Ser9237=)
|
rs727504749
|
|
|
NM_001267550.2(TTN):c.27713G>A (p.Trp9238Ter)
|
|
|
|
NM_001267550.2(TTN):c.27714G>A (p.Trp9238Ter)
|
|
|
|
NM_001267550.2(TTN):c.27729A>G (p.Thr9243=)
|
rs2154295838
|
|
|
NM_001267550.2(TTN):c.2775+17C>A
|
|
|
|
NM_001267550.2(TTN):c.2775+19G>A
|
rs199707799
|
|
|
NM_001267550.2(TTN):c.2775+19G>T
|
rs199707799
|
|
|
NM_001267550.2(TTN):c.2775+1G>T
|
rs1057346353
|
|
|
NM_001267550.2(TTN):c.2775+20C>T
|
|
|
|
NM_001267550.2(TTN):c.2775+8A>G
|
|
|
|
NM_001267550.2(TTN):c.2775+9C>T
|
rs2154350666
|
|
|
NM_001267550.2(TTN):c.2776-13T>C
|
|
|
|
NM_001267550.2(TTN):c.2776-13del
|
|
|
|
NM_001267550.2(TTN):c.2776-15T>C
|
|
|
|
NM_001267550.2(TTN):c.2776-20T>C
|
rs1347252672
|
|
|
NM_001267550.2(TTN):c.27765del (p.Phe9255fs)
|
|
|
|
NM_001267550.2(TTN):c.27813T>C (p.Asp9271=)
|
rs2154295797
|
|
|
NM_001267550.2(TTN):c.27840A>G (p.Glu9280=)
|
rs1162946272
|
|
|
NM_001267550.2(TTN):c.27849G>A (p.Val9283=)
|
rs397517525
|
|
|
NM_001267550.2(TTN):c.27856G>C (p.Val9286Leu)
|
rs777547707
|
|
|
NM_001267550.2(TTN):c.27861T>G (p.Ser9287=)
|
|
|
|
NM_001267550.2(TTN):c.27864A>G (p.Ala9288=)
|
|
|
|
NM_001267550.2(TTN):c.27879C>T (p.Thr9293=)
|
rs751693156
|
|
|
NM_001267550.2(TTN):c.27886+10A>G
|
rs397517526
|
|
|
NM_001267550.2(TTN):c.27886+1G>T
|
rs2076721233
|
|
|
NM_001267550.2(TTN):c.27886+3G>A
|
rs750753011
|
|
|
NM_001267550.2(TTN):c.27887-4A>T
|
rs1553889394
|
|
|
NM_001267550.2(TTN):c.27887-7C>T
|
rs1446519993
|
|
|
NM_001267550.2(TTN):c.27887-8T>C
|
|
|
|
NM_001267550.2(TTN):c.278C>G (p.Ala93Gly)
|
rs1473207810
|
|
|
NM_001267550.2(TTN):c.27903A>G (p.Pro9301=)
|
|
|
|
NM_001267550.2(TTN):c.27906A>G (p.Ser9302=)
|
rs2154295353
|
|
|
NM_001267550.2(TTN):c.27919T>C (p.Leu9307=)
|
rs1482268373
|
|
|
NM_001267550.2(TTN):c.27933A>G (p.Gln9311=)
|
|
|
|
NM_001267550.2(TTN):c.27946C>T (p.Leu9316=)
|
|
|
|
NM_001267550.2(TTN):c.27951A>G (p.Pro9317=)
|
|
|
|
NM_001267550.2(TTN):c.27963T>C (p.Asp9321=)
|
|
|
|
NM_001267550.2(TTN):c.27976G>T (p.Gly9326Ter)
|
|
|
|
NM_001267550.2(TTN):c.27978A>T (p.Gly9326=)
|
|
|
|
NM_001267550.2(TTN):c.27987T>A (p.Pro9329=)
|
rs890582110
|
|
|
NM_001267550.2(TTN):c.2799A>G (p.Pro933=)
|
|
|
|
NM_001267550.2(TTN):c.279T>C (p.Ala93=)
|
rs2154359804
|
|
|
NM_001267550.2(TTN):c.28021T>C (p.Leu9341=)
|
rs2076606691
|
|
|
NM_001267550.2(TTN):c.28032C>A (p.Ser9344Arg)
|
rs1338895544
|
|
|
NM_001267550.2(TTN):c.28032C>T (p.Ser9344=)
|
rs1338895544
|
|
|
NM_001267550.2(TTN):c.28034C>T (p.Pro9345Leu)
|
rs878854296
|
|
|
NM_001267550.2(TTN):c.28044A>G (p.Gln9348=)
|
rs757855726
|
|
|
NM_001267550.2(TTN):c.28047A>G (p.Thr9349=)
|
rs575817028
|
|
|
NM_001267550.2(TTN):c.28049C>A (p.Ser9350Ter)
|
|
|
|
NM_001267550.2(TTN):c.28071A>C (p.Thr9357=)
|
|
|
|
NM_001267550.2(TTN):c.28074C>T (p.Leu9358=)
|
|
|
|
NM_001267550.2(TTN):c.28077T>C (p.Asn9359=)
|
|
|
|
NM_001267550.2(TTN):c.28083T>C (p.Phe9361=)
|
|
|
|
NM_001267550.2(TTN):c.28128A>T (p.Thr9376=)
|
rs2076591371
|
|
|
NM_001267550.2(TTN):c.2812del (p.Ile938fs)
|
|
|
|
NM_001267550.2(TTN):c.28131C>A (p.Asn9377Lys)
|
rs72648997
|
|
|
NM_001267550.2(TTN):c.28140C>A (p.Gly9380=)
|
|
|
|
NM_001267550.2(TTN):c.28143T>C (p.Ser9381=)
|
|
|
|
NM_001267550.2(TTN):c.28151C>G (p.Ser9384Cys)
|
rs760466007
|
|
|
NM_001267550.2(TTN):c.28161G>A (p.Arg9387=)
|
rs1577825107
|
|
|
NM_001267550.2(TTN):c.28174+11T>C
|
|
|
|
NM_001267550.2(TTN):c.28174+11del
|
|
|
|
NM_001267550.2(TTN):c.28174+7G>C
|
rs1478656719
|
|
|
NM_001267550.2(TTN):c.28175-13G>A
|
|
|
|
NM_001267550.2(TTN):c.28175-20T>C
|
|
|
|
NM_001267550.2(TTN):c.28175-7_28175-5del
|
|
|
|
NM_001267550.2(TTN):c.28175-9T>C
|
|
|
|
NM_001267550.2(TTN):c.28203C>T (p.Ile9401=)
|
rs2154295111
|
|
|
NM_001267550.2(TTN):c.28224T>C (p.Ala9408=)
|
rs2154295102
|
|
|
NM_001267550.2(TTN):c.28245C>T (p.Asp9415=)
|
|
|
|
NM_001267550.2(TTN):c.28248T>C (p.Phe9416=)
|
|
|
|
NM_001267550.2(TTN):c.2824C>T (p.Pro942Ser)
|
rs1060500550
|
|
|
NM_001267550.2(TTN):c.28251G>A (p.Glu9417=)
|
rs773169301
|
|
|
NM_001267550.2(TTN):c.28281G>A (p.Lys9427=)
|
rs1207669528
|
|
|
NM_001267550.2(TTN):c.2829A>G (p.Pro943=)
|
rs2154350495
|
|
|
NM_001267550.2(TTN):c.28302C>T (p.Ser9434=)
|
rs898602147
|
|
|
NM_001267550.2(TTN):c.28308A>G (p.Glu9436=)
|
rs906433178
|
|
|
NM_001267550.2(TTN):c.28320C>A (p.Gly9440=)
|
rs375083775
|
|
|
NM_001267550.2(TTN):c.28328A>T (p.Tyr9443Phe)
|
rs1553888051
|
|
|
NM_001267550.2(TTN):c.28377A>G (p.Val9459=)
|
|
|
|
NM_001267550.2(TTN):c.28379del (p.Asp9460fs)
|
|
|
|
NM_001267550.2(TTN):c.28391C>T (p.Ser9464Phe)
|
rs1553887984
|
|
|
NM_001267550.2(TTN):c.28395A>T (p.Gly9465=)
|
rs2154295032
|
|
|
NM_001267550.2(TTN):c.28404C>T (p.Thr9468=)
|
rs1459114444
|
|
|
NM_001267550.2(TTN):c.2841+12A>G
|
|
|
|
NM_001267550.2(TTN):c.2841+1G>C
|
rs2154350493
|
|
|
NM_001267550.2(TTN):c.2841G>T (p.Ser947=)
|
rs774074192
|
|
|
NM_001267550.2(TTN):c.2842-13C>T
|
rs1202062084
|
|
|
NM_001267550.2(TTN):c.2842-14T>C
|
|
|
|
NM_001267550.2(TTN):c.2842-15T>C
|
|
|
|
NM_001267550.2(TTN):c.2842-20A>C
|
|
|
|
NM_001267550.2(TTN):c.2842-20_2842-17del
|
rs752207098
|
|
|
NM_001267550.2(TTN):c.2842-6C>T
|
rs2154350132
|
|
|
NM_001267550.2(TTN):c.28433A>C (p.Asp9478Ala)
|
rs1553887887
|
|
|
NM_001267550.2(TTN):c.28434C>T (p.Asp9478=)
|
|
|
|
NM_001267550.2(TTN):c.28437T>A (p.Ser9479=)
|
|
|
|
NM_001267550.2(TTN):c.28440C>T (p.Cys9480=)
|
|
|
|
NM_001267550.2(TTN):c.28462+18A>G
|
|
|
|
NM_001267550.2(TTN):c.28462+20T>G
|
rs2154294991
|
|
|
NM_001267550.2(TTN):c.28463-14G>T
|
|
|
|
NM_001267550.2(TTN):c.28463-24AT[2]
|
rs769617035
|
|
|
NM_001267550.2(TTN):c.28467G>T (p.Arg9489=)
|
rs1296919666
|
|
|
NM_001267550.2(TTN):c.28469_28488del (p.Leu9490fs)
|
|
|
|
NM_001267550.2(TTN):c.28476A>T (p.Pro9492=)
|
|
|
|
NM_001267550.2(TTN):c.28479A>G (p.Pro9493=)
|
|
|
|
NM_001267550.2(TTN):c.28480A>T (p.Ser9494Cys)
|
rs1553886767
|
|
|
NM_001267550.2(TTN):c.28497C>T (p.Leu9499=)
|
|
|
|
NM_001267550.2(TTN):c.28499C>G (p.Ser9500Ter)
|
rs2154294487
|
|
|
NM_001267550.2(TTN):c.28503G>A (p.Glu9501=)
|
rs2154294485
|
|
|
NM_001267550.2(TTN):c.28524del (p.Asn9509fs)
|
rs1489175898
|
|
|
NM_001267550.2(TTN):c.2853T>C (p.Asn951=)
|
|
|
|
NM_001267550.2(TTN):c.28545A>C (p.Gly9515=)
|
|
|
|
NM_001267550.2(TTN):c.28626A>T (p.Ile9542=)
|
rs2154294417
|
|
|
NM_001267550.2(TTN):c.28653G>A (p.Leu9551=)
|
|
|
|
NM_001267550.2(TTN):c.28660A>C (p.Arg9554=)
|
|
|
|
NM_001267550.2(TTN):c.28667C>T (p.Ala9556Val)
|
rs1060500482
|
|
|
NM_001267550.2(TTN):c.28674G>C (p.Met9558Ile)
|
rs868771235
|
|
|
NM_001267550.2(TTN):c.28689G>A (p.Leu9563=)
|
rs1383961338
|
|
|
NM_001267550.2(TTN):c.2868del (p.Gly957fs)
|
rs794729355
|
|
|
NM_001267550.2(TTN):c.28698C>T (p.Cys9566=)
|
|
|
|
NM_001267550.2(TTN):c.28719C>T (p.Gly9573=)
|
|
|
|
NM_001267550.2(TTN):c.28722T>C (p.Ser9574=)
|
rs1577794660
|
|
|
NM_001267550.2(TTN):c.28726C>G (p.Leu9576Val)
|
rs780753483
|
|
|
NM_001267550.2(TTN):c.28726C>T (p.Leu9576=)
|
rs780753483
|
|
|
NM_001267550.2(TTN):c.28743C>A (p.Ile9581=)
|
|
|
|
NM_001267550.2(TTN):c.28753+15C>G
|
|
|
|
NM_001267550.2(TTN):c.28753+15C>T
|
|
|
|
NM_001267550.2(TTN):c.28753+16A>G
|
rs1470192163
|
|
|
NM_001267550.2(TTN):c.28753+1G>A
|
|
|
|
NM_001267550.2(TTN):c.28753+20C>T
|
rs2154294310
|
|
|
NM_001267550.2(TTN):c.28753+9T>C
|
rs2076355695
|
|
|
NM_001267550.2(TTN):c.28754-14C>T
|
|
|
|
NM_001267550.2(TTN):c.28754-18dup
|
|
|
|
NM_001267550.2(TTN):c.28754A>G (p.Glu9585Gly)
|
rs200856239
|
|
|
NM_001267550.2(TTN):c.28761G>A (p.Lys9587=)
|
rs2154293170
|
|
|
NM_001267550.2(TTN):c.2877T>A (p.Ser959=)
|
|
|
|
NM_001267550.2(TTN):c.2877T>C (p.Ser959=)
|
|
|
|
NM_001267550.2(TTN):c.28785C>T (p.His9595=)
|
rs773200956
|
|
|
NM_001267550.2(TTN):c.28788T>A (p.Leu9596=)
|
|
|
|
NM_001267550.2(TTN):c.28788T>C (p.Leu9596=)
|
|
|
|
NM_001267550.2(TTN):c.28794A>T (p.Pro9598=)
|
|
|
|
NM_001267550.2(TTN):c.28795G>A (p.Val9599Ile)
|
rs887090503
|
|
|
NM_001267550.2(TTN):c.28812A>G (p.Gly9604=)
|
rs2154293137
|
|
|
NM_001267550.2(TTN):c.28827C>T (p.Leu9609=)
|
rs1475068759
|
|
|
NM_001267550.2(TTN):c.2882C>G (p.Thr961Ser)
|
rs1554018432
|
|
|
NM_001267550.2(TTN):c.2884T>C (p.Leu962=)
|
rs1574773808
|
|
|
NM_001267550.2(TTN):c.28860G>A (p.Arg9620=)
|
|
|
|
NM_001267550.2(TTN):c.28893G>A (p.Lys9631=)
|
rs1324979434
|
|
|
NM_001267550.2(TTN):c.2889G>A (p.Glu963=)
|
|
|
|
NM_001267550.2(TTN):c.288C>T (p.Leu96=)
|
rs878881293
|
|
|
NM_001267550.2(TTN):c.28908C>A (p.Cys9636Ter)
|
rs1553883443
|
|
|
NM_001267550.2(TTN):c.28909_28922del (p.Cys9636_Ser9637insTer)
|
|
|
|
NM_001267550.2(TTN):c.28965A>G (p.Ala9655=)
|
|
|
|
NM_001267550.2(TTN):c.28971G>C (p.Ser9657=)
|
|
|
|
NM_001267550.2(TTN):c.28977T>C (p.Asp9659=)
|
|
|
|
NM_001267550.2(TTN):c.28980T>C (p.Tyr9660=)
|
|
|
|
NM_001267550.2(TTN):c.28983G>A (p.Val9661=)
|
rs794727991
|
|
|
NM_001267550.2(TTN):c.28983G>T (p.Val9661=)
|
rs794727991
|
|
|
NM_001267550.2(TTN):c.28993del (p.Ser9665fs)
|
|
|
|
NM_001267550.2(TTN):c.28995A>C (p.Ser9665=)
|
rs2154293064
|
|
|
NM_001267550.2(TTN):c.29024C>A (p.Ser9675Ter)
|
rs886042115
|
|
|
NM_001267550.2(TTN):c.29025A>G (p.Ser9675=)
|
|
|
|
NM_001267550.2(TTN):c.29041+11C>T
|
|
|
|
NM_001267550.2(TTN):c.29042-15dup
|
rs2154292674
|
|
|
NM_001267550.2(TTN):c.29042-16G>T
|
|
|
|
NM_001267550.2(TTN):c.29042-19C>T
|
rs1430170268
|
|
|
NM_001267550.2(TTN):c.29042-2del
|
rs2075975847
|
|
|
NM_001267550.2(TTN):c.29042-4del
|
rs1345117628
|
|
|
NM_001267550.2(TTN):c.29042-4dup
|
rs1345117628
|
|
|
NM_001267550.2(TTN):c.29048C>T (p.Pro9683Leu)
|
rs794729399
|
|
|
NM_001267550.2(TTN):c.29058C>T (p.Ala9686=)
|
|
|
|
NM_001267550.2(TTN):c.29070dup (p.Lys9691fs)
|
|
|
|
NM_001267550.2(TTN):c.29073A>G (p.Lys9691=)
|
|
|
|
NM_001267550.2(TTN):c.2907C>A (p.Tyr969Ter)
|
|
|
|
NM_001267550.2(TTN):c.29085T>C (p.Asp9695=)
|
|
|
|
NM_001267550.2(TTN):c.29094C>T (p.Leu9698=)
|
|
|
|
NM_001267550.2(TTN):c.29099_29100del (p.Phe9700fs)
|
|
|
|
NM_001267550.2(TTN):c.29100dup (p.Val9701fs)
|
rs796065340
|
|
|
NM_001267550.2(TTN):c.2910A>G (p.Pro970=)
|
|
|
|
NM_001267550.2(TTN):c.29118T>C (p.Ser9706=)
|
|
|
|
NM_001267550.2(TTN):c.29127C>G (p.Val9709=)
|
rs769063245
|
|
|
NM_001267550.2(TTN):c.29127C>T (p.Val9709=)
|
rs769063245
|
|
|
NM_001267550.2(TTN):c.29130A>T (p.Val9710=)
|
rs2154292616
|
|
|
NM_001267550.2(TTN):c.29134+3A>G
|
rs2154292612
|
|
|
NM_001267550.2(TTN):c.29135-14T>A
|
|
|
|
NM_001267550.2(TTN):c.29135-15T>C
|
|
|
|
NM_001267550.2(TTN):c.29135-6C>T
|
rs2154292514
|
|
|
NM_001267550.2(TTN):c.29135-9A>T
|
rs2154292518
|
|
|
NM_001267550.2(TTN):c.2913C>T (p.Ser971=)
|
|
|
|
NM_001267550.2(TTN):c.29163T>G (p.Val9721=)
|
rs2154292489
|
|
|
NM_001267550.2(TTN):c.29185G>T (p.Val9729Phe)
|
rs1060500451
|
|
|
NM_001267550.2(TTN):c.29193G>A (p.Trp9731Ter)
|
|
|
|
NM_001267550.2(TTN):c.29212_29218del (p.Gln9738fs)
|
rs2154292470
|
|
|
NM_001267550.2(TTN):c.2922G>A (p.Val974=)
|
rs2154350098
|
|
|
NM_001267550.2(TTN):c.29230C>G (p.Arg9744Gly)
|
rs375266859
|
|
|
NM_001267550.2(TTN):c.29232T>A (p.Arg9744=)
|
|
|
|
NM_001267550.2(TTN):c.29238C>T (p.Phe9746=)
|
rs727503640
|
|
|
NM_001267550.2(TTN):c.29240_29241del (p.Ile9747fs)
|
|
|
|
NM_001267550.2(TTN):c.29253C>A (p.Gly9751=)
|
rs771825568
|
|
|
NM_001267550.2(TTN):c.2925A>G (p.Thr975=)
|
|
|
|
NM_001267550.2(TTN):c.29292T>C (p.Thr9764=)
|
|
|
|
NM_001267550.2(TTN):c.29301G>A (p.Gly9767=)
|
rs1382066984
|
|
|
NM_001267550.2(TTN):c.29301G>T (p.Gly9767=)
|
|
|
|
NM_001267550.2(TTN):c.29334del (p.Glu9779fs)
|
|
|
|
NM_001267550.2(TTN):c.29358A>G (p.Leu9786=)
|
|
|
|
NM_001267550.2(TTN):c.29367T>C (p.Asp9789=)
|
rs1577733010
|
|
|
NM_001267550.2(TTN):c.29376G>A (p.Lys9792=)
|
rs1560529237
|
|
|
NM_001267550.2(TTN):c.29382A>G (p.Gln9794=)
|
rs1057523227
|
|
|
NM_001267550.2(TTN):c.2941_2942insC (p.Tyr981fs)
|
rs2154350090
|
|
|
NM_001267550.2(TTN):c.29420+11T>A
|
|
|
|
NM_001267550.2(TTN):c.29420+17C>A
|
rs1405934224
|
|
|
NM_001267550.2(TTN):c.29420+17C>T
|
|
|
|
NM_001267550.2(TTN):c.29421-20_29421-17del
|
|
|
|
NM_001267550.2(TTN):c.29421-7T>C
|
rs1553879938
|
|
|
NM_001267550.2(TTN):c.29439A>G (p.Lys9813=)
|
|
|
|
NM_001267550.2(TTN):c.2943C>A (p.Tyr981Ter)
|
|
|
|
NM_001267550.2(TTN):c.29440G>T (p.Gly9814Ter)
|
|
|
|
NM_001267550.2(TTN):c.29451A>G (p.Glu9817=)
|
rs747574892
|
|
|
NM_001267550.2(TTN):c.29457G>A (p.Glu9819=)
|
rs780561066
|
|
|
NM_001267550.2(TTN):c.29464G>T (p.Asp9822Tyr)
|
rs758873870
|
|
|
NM_001267550.2(TTN):c.29475A>G (p.Glu9825=)
|
|
|
|
NM_001267550.2(TTN):c.295+9C>T
|
|
|
|
NM_001267550.2(TTN):c.295+9_295+11del
|
|
|
|
NM_001267550.2(TTN):c.29512_29513insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAATATGAAAAAT (p.Tyr9838delinsTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProXaaXaaXaaXaaLysLysLysLysLysLysArgIleTer)
|
rs2154291624
|
|
|
NM_001267550.2(TTN):c.29529A>G (p.Gly9843=)
|
|
|
|
NM_001267550.2(TTN):c.29532C>T (p.Ile9844=)
|
rs2154291608
|
|
|
NM_001267550.2(TTN):c.29542C>T (p.Arg9848Ter)
|
|
|
|
NM_001267550.2(TTN):c.29550T>C (p.Leu9850=)
|
|
|
|
NM_001267550.2(TTN):c.29580C>T (p.Ser9860=)
|
|
|
|
NM_001267550.2(TTN):c.29589A>G (p.Glu9863=)
|
rs2154291585
|
|
|
NM_001267550.2(TTN):c.2958C>T (p.Ser986=)
|
rs2154350081
|
|
|
NM_001267550.2(TTN):c.29595A>G (p.Thr9865=)
|
|
|
|
NM_001267550.2(TTN):c.29597A>G (p.His9866Arg)
|
rs878919397
|
|
|
NM_001267550.2(TTN):c.29599A>T (p.Arg9867Ter)
|
|
|
|
NM_001267550.2(TTN):c.29604+14T>C
|
|
|
|
NM_001267550.2(TTN):c.29604+15A>G
|
|
|
|
NM_001267550.2(TTN):c.29604+17A>T
|
rs2154291544
|
|
|
NM_001267550.2(TTN):c.29604+18T>C
|
|
|
|
NM_001267550.2(TTN):c.29604+20G>A
|
|
|
|
NM_001267550.2(TTN):c.29604+7T>C
|
rs727503639
|
|
|
NM_001267550.2(TTN):c.29605-10T>C
|
|
|
|
NM_001267550.2(TTN):c.29605-16T>A
|
rs2154291446
|
|
|
NM_001267550.2(TTN):c.29605-16T>C
|
|
|
|
NM_001267550.2(TTN):c.29605-17A>G
|
|
|
|
NM_001267550.2(TTN):c.29605-19T>G
|
|
|
|
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs)
|
rs777924443
|
|
|
NM_001267550.2(TTN):c.29628A>T (p.Ser9876=)
|
|
|
|
NM_001267550.2(TTN):c.29634G>A (p.Arg9878=)
|
rs2154291420
|
|
|
NM_001267550.2(TTN):c.29643G>A (p.Lys9881=)
|
|
|
|
NM_001267550.2(TTN):c.2964C>T (p.Asp988=)
|
rs2154350075
|
|
|
NM_001267550.2(TTN):c.29664A>C (p.Ser9888=)
|
rs377541656
|
|
|
NM_001267550.2(TTN):c.29680C>T (p.Leu9894=)
|
|
|
|
NM_001267550.2(TTN):c.29694+10A>G
|
rs868253161
|
|
|
NM_001267550.2(TTN):c.29694+14T>C
|
rs1458593107
|
|
|
NM_001267550.2(TTN):c.29694+5A>T
|
|
|
|
NM_001267550.2(TTN):c.29694+8G>A
|
rs2075607228
|
|
|
NM_001267550.2(TTN):c.29694+8G>T
|
|
|
|
NM_001267550.2(TTN):c.29695-11T>C
|
|
|
|
NM_001267550.2(TTN):c.29695-14C>A
|
|
|
|
NM_001267550.2(TTN):c.29695-1G>T
|
|
|
|
NM_001267550.2(TTN):c.29695-5C>T
|
rs2154291324
|
|
|
NM_001267550.2(TTN):c.29729C>T (p.Thr9910Ile)
|
rs878854297
|
|
|
NM_001267550.2(TTN):c.29748T>C (p.Asp9916=)
|
|
|
|
NM_001267550.2(TTN):c.29799G>C (p.Ser9933=)
|
rs2742344
|
|
|
NM_001267550.2(TTN):c.2980_2995del (p.Gln994fs)
|
|
|
|
NM_001267550.2(TTN):c.29814T>G (p.Thr9938=)
|
|
|
|
NM_001267550.2(TTN):c.29857G>A (p.Gly9953Ser)
|
rs770212603
|
|
|
NM_001267550.2(TTN):c.29863C>T (p.Arg9955Ter)
|
|
|
|
NM_001267550.2(TTN):c.29914C>T (p.Arg9972Ter)
|
|
|
|
NM_001267550.2(TTN):c.29925T>C (p.Cys9975=)
|
|
|
|
NM_001267550.2(TTN):c.29934C>T (p.His9978=)
|
|
|
|
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr)
|
rs189286381
|
|
|
NM_001267550.2(TTN):c.29962+14G>T
|
|
|
|
NM_001267550.2(TTN):c.29962+15G>A
|
|
|
|
NM_001267550.2(TTN):c.29962+18T>C
|
|
|
|
NM_001267550.2(TTN):c.29963-15G>A
|
|
|
|
NM_001267550.2(TTN):c.29963-20G>A
|
rs181332195
|
|
|
NM_001267550.2(TTN):c.29963-20G>C
|
|
|
|
NM_001267550.2(TTN):c.29965C>A (p.Pro9989Thr)
|
rs1553877891
|
|
|
NM_001267550.2(TTN):c.29979G>T (p.Arg9993=)
|
rs373179866
|
|
|
NM_001267550.2(TTN):c.29982T>C (p.His9994=)
|
rs2154291092
|
|
|
NM_001267550.2(TTN):c.29984T>A (p.Leu9995His)
|
rs1060500554
|
|
|
NM_001267550.2(TTN):c.30021C>T (p.Thr10007=)
|
|
|
|
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)
|
rs148269839
|
|
|
NM_001267550.2(TTN):c.30039T>G (p.Ser10013=)
|
|
|
|
NM_001267550.2(TTN):c.30045A>C (p.Pro10015=)
|
rs1577700484
|
|
|
NM_001267550.2(TTN):c.30060A>G (p.Glu10020=)
|
rs764487564
|
|
|
NM_001267550.2(TTN):c.30075C>A (p.Gly10025=)
|
rs756458120
|
|
|
NM_001267550.2(TTN):c.3007dup (p.Arg1003fs)
|
rs1574771625
|
|
|
NM_001267550.2(TTN):c.30091dup (p.Gln10031fs)
|
rs1553877628
|
|
|
NM_001267550.2(TTN):c.30096T>C (p.Gly10032=)
|
rs2154291048
|
|
|
NM_001267550.2(TTN):c.3009C>T (p.Arg1003=)
|
rs2092903896
|
|
|
NM_001267550.2(TTN):c.30117A>G (p.Glu10039=)
|
rs772838964
|
|
|
NM_001267550.2(TTN):c.30139A>T (p.Ile10047Phe)
|
rs1553877530
|
|
|
NM_001267550.2(TTN):c.30192C>T (p.Asp10064=)
|
|
|
|
NM_001267550.2(TTN):c.30223+16T>C
|
|
|
|
NM_001267550.2(TTN):c.30223+18G>C
|
|
|
|
NM_001267550.2(TTN):c.30223+1G>T
|
|
|
|
NM_001267550.2(TTN):c.30223+3G>A
|
|
|
|
NM_001267550.2(TTN):c.30223G>C (p.Ala10075Pro)
|
|
|
|
NM_001267550.2(TTN):c.30224-12G>A
|
|
|
|
NM_001267550.2(TTN):c.30224-19C>A
|
|
|
|
NM_001267550.2(TTN):c.30224-19C>G
|
|
|
|
NM_001267550.2(TTN):c.30246G>A (p.Lys10082=)
|
rs2154290057
|
|
|
NM_001267550.2(TTN):c.30261C>A (p.Ile10087=)
|
rs1486425150
|
|
|
NM_001267550.2(TTN):c.30261C>T (p.Ile10087=)
|
|
|
|
NM_001267550.2(TTN):c.30267G>A (p.Val10089=)
|
rs2154290042
|
|
|
NM_001267550.2(TTN):c.30267G>C (p.Val10089=)
|
|
|
|
NM_001267550.2(TTN):c.30288C>T (p.Thr10096=)
|
|
|
|
NM_001267550.2(TTN):c.30299A>C (p.Glu10100Ala)
|
rs1060500579
|
|
|
NM_001267550.2(TTN):c.302C>T (p.Thr101Ile)
|
rs879185669
|
|
|
NM_001267550.2(TTN):c.30306C>G (p.Ser10102=)
|
|
|
|
NM_001267550.2(TTN):c.30321T>A (p.Ile10107=)
|
|
|
|
NM_001267550.2(TTN):c.30324A>G (p.Val10108=)
|
rs2154290022
|
|
|
NM_001267550.2(TTN):c.30325A>C (p.Thr10109Pro)
|
rs2075197256
|
|
|
NM_001267550.2(TTN):c.30327A>G (p.Thr10109=)
|
rs2154290016
|
|
|
NM_001267550.2(TTN):c.30348A>G (p.Glu10116=)
|
rs2154290008
|
|
|
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)
|
rs397517547
|
|
|
NM_001267550.2(TTN):c.30356_30359del (p.Glu10119fs)
|
rs2154290001
|
|
|
NM_001267550.2(TTN):c.30357G>A (p.Glu10119=)
|
rs1560501974
|
|
|
NM_001267550.2(TTN):c.30358_30359del (p.Ser10120fs)
|
rs2154290001
|
|
|
NM_001267550.2(TTN):c.30408C>A (p.Ile10136=)
|
rs878862911
|
|
|
NM_001267550.2(TTN):c.30408C>T (p.Ile10136=)
|
rs878862911
|
|
|
NM_001267550.2(TTN):c.3042T>A (p.Thr1014=)
|
rs1187736528
|
|
|
NM_001267550.2(TTN):c.30433+11T>A
|
|
|
|
NM_001267550.2(TTN):c.30433+17T>C
|
|
|
|
NM_001267550.2(TTN):c.30433+18T>C
|
rs2154289939
|
|
|
NM_001267550.2(TTN):c.30433+2T>G
|
rs1060500504
|
|
|
NM_001267550.2(TTN):c.30433+3G>C
|
|
|
|
NM_001267550.2(TTN):c.30433+9A>T
|
rs2154289950
|
|
|
NM_001267550.2(TTN):c.30434-16T>C
|
|
|
|
NM_001267550.2(TTN):c.30434-19G>A
|
rs2154289843
|
|
|
NM_001267550.2(TTN):c.30436G>A (p.Val10146Ile)
|
rs1553875094
|
|
|
NM_001267550.2(TTN):c.30447C>A (p.Val10149=)
|
|
|
|
NM_001267550.2(TTN):c.30456G>C (p.Arg10152=)
|
rs764333790
|
|
|
NM_001267550.2(TTN):c.30476del (p.Ala10159fs)
|
rs2154289805
|
|
|
NM_001267550.2(TTN):c.30486G>A (p.Thr10162=)
|
|
|
|
NM_001267550.2(TTN):c.30487del (p.Ala10163fs)
|
rs1560498923
|
|
|
NM_001267550.2(TTN):c.30495G>A (p.Leu10165=)
|
rs1553874949
|
|
|
NM_001267550.2(TTN):c.30504G>A (p.Thr10168=)
|
|
|
|
NM_001267550.2(TTN):c.30511+11G>A
|
|
|
|
NM_001267550.2(TTN):c.30511+8A>G
|
rs2075120231
|
|
|
NM_001267550.2(TTN):c.30512-10T>A
|
|
|
|
NM_001267550.2(TTN):c.30512-10del
|
|
|
|
NM_001267550.2(TTN):c.30512-11T>C
|
|
|
|
NM_001267550.2(TTN):c.30512-15T>A
|
|
|
|
NM_001267550.2(TTN):c.30512-15T>G
|
rs768015674
|
|
|
NM_001267550.2(TTN):c.30512-19T>C
|
|
|
|
NM_001267550.2(TTN):c.30512-19_30512-18dup
|
rs397517532
|
|
|
NM_001267550.2(TTN):c.30512-19dup
|
rs397517532
|
|
|
NM_001267550.2(TTN):c.30515T>A (p.Ile10172Asn)
|
rs772028677
|
|
|
NM_001267550.2(TTN):c.30528G>A (p.Leu10176=)
|
rs2154289669
|
|
|
NM_001267550.2(TTN):c.30538+11T>C
|
|
|
|
NM_001267550.2(TTN):c.30538+13G>A
|
rs1385757504
|
|
|
NM_001267550.2(TTN):c.30538+16A>G
|
|
|
|
NM_001267550.2(TTN):c.30538+19dup
|
|
|
|
NM_001267550.2(TTN):c.30538+5G>A
|
|
|
|
NM_001267550.2(TTN):c.30538G>C (p.Asp10180His)
|
|
|
|
NM_001267550.2(TTN):c.30539-10C>T
|
rs2154289344
|
|
|
NM_001267550.2(TTN):c.30539-12G>A
|
|
|
|
NM_001267550.2(TTN):c.30539-13T>C
|
|
|
|
NM_001267550.2(TTN):c.30539-14A>G
|
|
|
|
NM_001267550.2(TTN):c.30539-20T>C
|
|
|
|
NM_001267550.2(TTN):c.30539-4C>A
|
|
|
|
NM_001267550.2(TTN):c.30539-8C>T
|
|
|
|
NM_001267550.2(TTN):c.30539-9C>T
|
rs548609202
|
|
|
NM_001267550.2(TTN):c.30564C>A (p.Ile10188=)
|
|
|
|
NM_001267550.2(TTN):c.30570C>A (p.Thr10190=)
|
rs531598218
|
|
|
NM_001267550.2(TTN):c.30583G>T (p.Ala10195Ser)
|
rs1060500585
|
|
|
NM_001267550.2(TTN):c.30598+10A>C
|
|
|
|
NM_001267550.2(TTN):c.30598+14C>T
|
|
|
|
NM_001267550.2(TTN):c.30598+19A>G
|
rs371363074
|
|
|
NM_001267550.2(TTN):c.30598+1G>C
|
rs2075001826
|
|
|
NM_001267550.2(TTN):c.30598+4A>T
|
rs1560494355
|
|
|
NM_001267550.2(TTN):c.30598+7C>T
|
|
|
|
NM_001267550.2(TTN):c.30598+9C>G
|
|
|
|
NM_001267550.2(TTN):c.30598G>T (p.Glu10200Ter)
|
|
|
|
NM_001267550.2(TTN):c.30599-18G>A
|
|
|
|
NM_001267550.2(TTN):c.30599-1G>A
|
rs1338491963
|
|
|
NM_001267550.2(TTN):c.30599-6C>T
|
rs372535015
|
|
|
NM_001267550.2(TTN):c.30609T>C (p.Pro10203=)
|
rs1577654335
|
|
|
NM_001267550.2(TTN):c.30615T>G (p.Val10205=)
|
rs1577654107
|
|
|
NM_001267550.2(TTN):c.30648C>A (p.Pro10216=)
|
|
|
|
NM_001267550.2(TTN):c.30648C>T (p.Pro10216=)
|
rs765611174
|
|
|
NM_001267550.2(TTN):c.30651A>G (p.Glu10217=)
|
rs1008835155
|
|
|
NM_001267550.2(TTN):c.30654A>G (p.Glu10218=)
|
|
|
|
NM_001267550.2(TTN):c.30682+12C>T
|
|
|
|
NM_001267550.2(TTN):c.30682+13del
|
|
|
|
NM_001267550.2(TTN):c.30683-13T>C
|
|
|
|
NM_001267550.2(TTN):c.30683-17T>C
|
|
|
|
NM_001267550.2(TTN):c.30683-17dup
|
rs368277751
|
|
|
NM_001267550.2(TTN):c.30683-18_30683-15del
|
rs2154286705
|
|
|
NM_001267550.2(TTN):c.30683-18_30683-16del
|
|
|
|
NM_001267550.2(TTN):c.30683-18_30683-17del
|
rs2154286716
|
|
|
NM_001267550.2(TTN):c.30683-18_30683-5del
|
|
|
|
NM_001267550.2(TTN):c.30683-18_30683-8del
|
|
|
|
NM_001267550.2(TTN):c.30683-18_30683-9del
|
rs775388232
|
|
|
NM_001267550.2(TTN):c.30683-19del
|
rs752002029
|
|
|
NM_001267550.2(TTN):c.30683-19dup
|
|
|
|
NM_001267550.2(TTN):c.30683-1G>A
|
|
|
|
NM_001267550.2(TTN):c.30683-20T>C
|
|
|
|
NM_001267550.2(TTN):c.30683-21_30683-19del
|
rs752002029
|
|
|
NM_001267550.2(TTN):c.30683-28_30683-14del
|
rs776394673
|
|
|
NM_001267550.2(TTN):c.30683-28_30683-15del
|
rs761485138
|
|
|
NM_001267550.2(TTN):c.30683-28_30683-16del
|
rs764830728
|
|
|
NM_001267550.2(TTN):c.30683-28_30683-17del
|
rs749882267
|
|
|
NM_001267550.2(TTN):c.30683-28_30683-18del
|
|
|
|
NM_001267550.2(TTN):c.30683-3del
|
rs368277751
|
|
|
NM_001267550.2(TTN):c.30683-4T>C
|
rs2074227288
|
|
|
NM_001267550.2(TTN):c.30687C>T (p.Thr10229=)
|
rs1353082213
|
|
|
NM_001267550.2(TTN):c.30694G>T (p.Ala10232Ser)
|
rs747294929
|
|
|
NM_001267550.2(TTN):c.30696T>C (p.Ala10232=)
|
|
|
|
NM_001267550.2(TTN):c.30717A>G (p.Lys10239=)
|
|
|
|
NM_001267550.2(TTN):c.30754+14T>C
|
|
|
|
NM_001267550.2(TTN):c.30754+1G>T
|
rs914288774
|
|
|
NM_001267550.2(TTN):c.30754+8A>G
|
rs1060503958
|
|
|
NM_001267550.2(TTN):c.30755-3del
|
|
|
|
NM_001267550.2(TTN):c.30755-4C>T
|
|
|
|
NM_001267550.2(TTN):c.30781A>G (p.Thr10261Ala)
|
rs1060500409
|
|
|
NM_001267550.2(TTN):c.30786C>G (p.Thr10262=)
|
rs2154284149
|
|
|
NM_001267550.2(TTN):c.30787T>C (p.Leu10263=)
|
rs756015749
|
|
|
NM_001267550.2(TTN):c.30803-12dup
|
|
|
|
NM_001267550.2(TTN):c.30803-19G>A
|
|
|
|
NM_001267550.2(TTN):c.30803-7A>G
|
rs779342990
|
|
|
NM_001267550.2(TTN):c.30843A>G (p.Val10281=)
|
rs2154282965
|
|
|
NM_001267550.2(TTN):c.3084C>T (p.Cys1028=)
|
rs2154349998
|
|
|
NM_001267550.2(TTN):c.30858A>C (p.Ile10286=)
|
|
|
|
NM_001267550.2(TTN):c.30870A>G (p.Lys10290=)
|
|
|
|
NM_001267550.2(TTN):c.30882A>G (p.Lys10294=)
|
|
|
|
NM_001267550.2(TTN):c.30889G>T (p.Glu10297Ter)
|
|
|
|
NM_001267550.2(TTN):c.30899A>G (p.Tyr10300Cys)
|
rs1553864504
|
|
|
NM_001267550.2(TTN):c.30912A>G (p.Gln10304=)
|
|
|
|
NM_001267550.2(TTN):c.30942T>C (p.Ile10314=)
|
|
|
|
NM_001267550.2(TTN):c.30963T>A (p.Tyr10321Ter)
|
rs1167073084
|
|
|
NM_001267550.2(TTN):c.30963T>C (p.Tyr10321=)
|
|
|
|
NM_001267550.2(TTN):c.30967G>T (p.Glu10323Ter)
|
rs1425322355
|
|
|
NM_001267550.2(TTN):c.3096G>T (p.Val1032=)
|
rs879114879
|
|
|
NM_001267550.2(TTN):c.30989_30990del (p.Thr10330fs)
|
rs2073652081
|
|
|
NM_001267550.2(TTN):c.30994C>G (p.Pro10332Ala)
|
rs757869762
|
|
|
NM_001267550.2(TTN):c.3100+10C>T
|
|
|
|
NM_001267550.2(TTN):c.3100+14C>T
|
rs2092895677
|
|
|
NM_001267550.2(TTN):c.3100+17C>T
|
|
|
|
NM_001267550.2(TTN):c.3100+18C>T
|
|
|
|
NM_001267550.2(TTN):c.3100+5G>A
|
rs794729294
|
|
|
NM_001267550.2(TTN):c.3100+8G>A
|
|
|
|
NM_001267550.2(TTN):c.3101-10C>T
|
|
|
|
NM_001267550.2(TTN):c.3101-17C>T
|
|
|
|
NM_001267550.2(TTN):c.3101-1G>A
|
rs2092877322
|
|
|
NM_001267550.2(TTN):c.3101-2A>T
|
rs1060500467
|
|
|
NM_001267550.2(TTN):c.3101-8T>C
|
|
|
|
NM_001267550.2(TTN):c.31011T>C (p.Tyr10337=)
|
|
|
|
NM_001267550.2(TTN):c.31014T>C (p.Tyr10338=)
|
rs397517536
|
|
|
NM_001267550.2(TTN):c.31044T>C (p.Ile10348=)
|
|
|
|
NM_001267550.2(TTN):c.31048G>A (p.Val10350Ile)
|
rs1553864204
|
|
|
NM_001267550.2(TTN):c.31089T>C (p.Asp10363=)
|
|
|
|
NM_001267550.2(TTN):c.3109G>T (p.Glu1037Ter)
|
|
|
|
NM_001267550.2(TTN):c.31104A>G (p.Gln10368=)
|
|
|
|
NM_001267550.2(TTN):c.31143G>A (p.Glu10381=)
|
|
|
|
NM_001267550.2(TTN):c.31149G>A (p.Glu10383=)
|
rs727504724
|
|
|
NM_001267550.2(TTN):c.31164C>A (p.Tyr10388Ter)
|
rs794727040
|
|
|
NM_001267550.2(TTN):c.31200C>A (p.Val10400=)
|
|
|
|
NM_001267550.2(TTN):c.31203T>C (p.Tyr10401=)
|
|
|
|
NM_001267550.2(TTN):c.31207+5G>A
|
rs876658051
|
|
|
NM_001267550.2(TTN):c.31207+5G>C
|
|
|
|
NM_001267550.2(TTN):c.31208-10_31208-8del
|
rs758770490
|
|
|
NM_001267550.2(TTN):c.31208-13G>C
|
|
|
|
NM_001267550.2(TTN):c.31208-13_31208-12del
|
|
|
|
NM_001267550.2(TTN):c.31208-15G>A
|
|
|
|
NM_001267550.2(TTN):c.31208-19T>C
|
|
|
|
NM_001267550.2(TTN):c.31208-9T>G
|
|
|
|
NM_001267550.2(TTN):c.31209A>G (p.Glu10403=)
|
|
|
|
NM_001267550.2(TTN):c.31212A>G (p.Ser10404=)
|
|
|
|
NM_001267550.2(TTN):c.31242T>A (p.Pro10414=)
|
rs2154282457
|
|
|
NM_001267550.2(TTN):c.31242T>C (p.Pro10414=)
|
|
|
|
NM_001267550.2(TTN):c.31260A>C (p.Pro10420=)
|
|
|
|
NM_001267550.2(TTN):c.31263T>C (p.Pro10421=)
|
rs2154282447
|
|
|
NM_001267550.2(TTN):c.31270+18T>C
|
|
|
|
NM_001267550.2(TTN):c.31270+8del
|
rs750965338
|
|
|
NM_001267550.2(TTN):c.31270G>T (p.Val10424Phe)
|
rs1352290576
|
|
|
NM_001267550.2(TTN):c.31271-13A>C
|
|
|
|
NM_001267550.2(TTN):c.31271-14T>C
|
rs2073324974
|
|
|
NM_001267550.2(TTN):c.31271-17C>T
|
|
|
|
NM_001267550.2(TTN):c.31271-19T>G
|
|
|
|
NM_001267550.2(TTN):c.31271-4G>T
|
rs2073322104
|
|
|
NM_001267550.2(TTN):c.31281G>A (p.Lys10427=)
|
rs868824599
|
|
|
NM_001267550.2(TTN):c.31290T>C (p.Ile10430=)
|
rs1577541788
|
|
|
NM_001267550.2(TTN):c.31299T>C (p.Ile10433=)
|
|
|
|
NM_001267550.2(TTN):c.312C>A (p.Pro104=)
|
|
|
|
NM_001267550.2(TTN):c.312C>T (p.Pro104=)
|
|
|
|
NM_001267550.2(TTN):c.31323G>A (p.Glu10441=)
|
rs2154282032
|
|
|
NM_001267550.2(TTN):c.31338A>G (p.Gln10446=)
|
|
|
|
NM_001267550.2(TTN):c.31348+15A>G
|
|
|
|
NM_001267550.2(TTN):c.31348+17T>C
|
|
|
|
NM_001267550.2(TTN):c.31348+9T>G
|
|
|
|
NM_001267550.2(TTN):c.31349-13_31349-12delinsAC
|
|
|
|
NM_001267550.2(TTN):c.31349-16G>A
|
|
|
|
NM_001267550.2(TTN):c.31349-18T>G
|
|
|
|
NM_001267550.2(TTN):c.31353T>A (p.Pro10451=)
|
rs1176651732
|
|
|
NM_001267550.2(TTN):c.31362A>C (p.Ser10454=)
|
|
|
|
NM_001267550.2(TTN):c.3138T>A (p.Thr1046=)
|
rs1060503945
|
|
|
NM_001267550.2(TTN):c.3138T>G (p.Thr1046=)
|
|
|
|
NM_001267550.2(TTN):c.31390C>T (p.Arg10464Trp)
|
rs374555701
|
|
|
NM_001267550.2(TTN):c.31402C>T (p.Gln10468Ter)
|
|
|
|
NM_001267550.2(TTN):c.31416T>C (p.Ile10472=)
|
rs1378402765
|
|
|
NM_001267550.2(TTN):c.31426+18T>C
|
|
|
|
NM_001267550.2(TTN):c.31426G>T (p.Val10476Leu)
|
|
|
|
NM_001267550.2(TTN):c.31427-12C>A
|
|
|
|
NM_001267550.2(TTN):c.31427-18G>A
|
|
|
|
NM_001267550.2(TTN):c.31427-9T>C
|
|
|
|
NM_001267550.2(TTN):c.31455T>C (p.Val10485=)
|
rs1299416122
|
|
|
NM_001267550.2(TTN):c.31479del (p.Phe10493fs)
|
|
|
|
NM_001267550.2(TTN):c.3147T>C (p.Phe1049=)
|
rs754601149
|
|
|
NM_001267550.2(TTN):c.31486C>G (p.His10496Asp)
|
rs1553860465
|
|
|
NM_001267550.2(TTN):c.31506A>G (p.Ser10502=)
|
|
|
|
NM_001267550.2(TTN):c.31513+12del
|
|
|
|
NM_001267550.2(TTN):c.31513+18A>C
|
rs2154281366
|
|
|
NM_001267550.2(TTN):c.31513+1G>A
|
rs1553860401
|
|
|
NM_001267550.2(TTN):c.31514-10dup
|
rs776720259
|
|
|
NM_001267550.2(TTN):c.31514-13A>G
|
|
|
|
NM_001267550.2(TTN):c.31514-4del
|
rs776720259
|
|
|
NM_001267550.2(TTN):c.31519_31523dup (p.Gln10509fs)
|
rs2154281189
|
|
|
NM_001267550.2(TTN):c.31525C>A (p.Gln10509Lys)
|
rs1553859889
|
|
|
NM_001267550.2(TTN):c.31542T>C (p.Thr10514=)
|
rs876657602
|
|
|
NM_001267550.2(TTN):c.31557C>T (p.His10519=)
|
|
|
|
NM_001267550.2(TTN):c.31563_31564inv (p.Ile10522Val)
|
|
|
|
NM_001267550.2(TTN):c.31575G>A (p.Arg10525=)
|
rs188251302
|
|
|
NM_001267550.2(TTN):c.31594+13C>A
|
|
|
|
NM_001267550.2(TTN):c.31594G>T (p.Val10532Phe)
|
rs763955552
|
|
|
NM_001267550.2(TTN):c.31595-11T>G
|
|
|
|
NM_001267550.2(TTN):c.31595-17G>T
|
|
|
|
NM_001267550.2(TTN):c.31595-20A>C
|
rs2072735992
|
|
|
NM_001267550.2(TTN):c.31595-4A>G
|
rs2154280433
|
|
|
NM_001267550.2(TTN):c.31635C>T (p.Ala10545=)
|
rs2072721432
|
|
|
NM_001267550.2(TTN):c.3164+20A>C
|
|
|
|
NM_001267550.2(TTN):c.3164+8A>G
|
|
|
|
NM_001267550.2(TTN):c.3165-4C>A
|
|
|
|
NM_001267550.2(TTN):c.3165-4C>T
|
|
|
|
NM_001267550.2(TTN):c.31656dup (p.Val10553fs)
|
|
|
|
NM_001267550.2(TTN):c.31659G>A (p.Val10553=)
|
rs767178132
|
|
|
NM_001267550.2(TTN):c.31669G>T (p.Ala10557Ser)
|
rs1553857863
|
|
|
NM_001267550.2(TTN):c.31669_31670del (p.Ala10557fs)
|
|
|
|
NM_001267550.2(TTN):c.31679-13T>C
|
rs1175226964
|
|
|
NM_001267550.2(TTN):c.31679-1G>A
|
|
|
|
NM_001267550.2(TTN):c.31718del (p.Lys10573fs)
|
rs2154280109
|
|
|
NM_001267550.2(TTN):c.31722A>C (p.Pro10574=)
|
|
|
|
NM_001267550.2(TTN):c.31735A>T (p.Lys10579Ter)
|
|
|
|
NM_001267550.2(TTN):c.31752T>C (p.Ala10584=)
|
|
|
|
NM_001267550.2(TTN):c.31756C>G (p.Pro10586Ala)
|
rs768652249
|
|
|
NM_001267550.2(TTN):c.31757C>T (p.Pro10586Leu)
|
rs200459347
|
|
|
NM_001267550.2(TTN):c.31762+19T>G
|
|
|
|
NM_001267550.2(TTN):c.31762+1G>T
|
|
|
|
NM_001267550.2(TTN):c.31762+4C>G
|
rs368538884
|
|
|
NM_001267550.2(TTN):c.31762+5G>T
|
rs145387989
|
|
|
NM_001267550.2(TTN):c.31762+5_31762+7del
|
rs397517538
|
|
|
NM_001267550.2(TTN):c.31762+7C>A
|
rs1031319399
|
|
|
NM_001267550.2(TTN):c.31763-17G>A
|
|
|
|
NM_001267550.2(TTN):c.31763-17_31763-16del
|
|
|
|
NM_001267550.2(TTN):c.31763-18T>C
|
|
|
|
NM_001267550.2(TTN):c.31763-6dup
|
rs1192352676
|
|
|
NM_001267550.2(TTN):c.31791T>C (p.Pro10597=)
|
rs397517539
|
|
|
NM_001267550.2(TTN):c.31827G>A (p.Lys10609=)
|
rs1462666636
|
|
|
NM_001267550.2(TTN):c.31833T>C (p.Ala10611=)
|
|
|
|
NM_001267550.2(TTN):c.31839A>C (p.Pro10613=)
|
|
|
|
NM_001267550.2(TTN):c.31846+11T>C
|
|
|
|
NM_001267550.2(TTN):c.31846+12T>C
|
rs2071870775
|
|
|
NM_001267550.2(TTN):c.31846+15G>A
|
|
|
|
NM_001267550.2(TTN):c.31846+1G>A
|
rs794727043
|
|
|
NM_001267550.2(TTN):c.31847-9C>G
|
|
|
|
NM_001267550.2(TTN):c.31875A>G (p.Thr10625=)
|
|
|
|
NM_001267550.2(TTN):c.31893T>C (p.Ile10631=)
|
rs2071785174
|
|
|
NM_001267550.2(TTN):c.31927+12C>A
|
|
|
|
NM_001267550.2(TTN):c.31927+15C>G
|
rs2071770233
|
|
|
NM_001267550.2(TTN):c.31927+17C>A
|
|
|
|
NM_001267550.2(TTN):c.31927+1G>T
|
rs1553852989
|
|
|
NM_001267550.2(TTN):c.31927+3A>C
|
|
|
|
NM_001267550.2(TTN):c.31928-11T>C
|
|
|
|
NM_001267550.2(TTN):c.31928-15del
|
|
|
|
NM_001267550.2(TTN):c.31928-16A>T
|
|
|
|
NM_001267550.2(TTN):c.31928-7C>T
|
|
|
|
NM_001267550.2(TTN):c.31928-9T>C
|
|
|
|
NM_001267550.2(TTN):c.31965G>A (p.Arg10655=)
|
|
|
|
NM_001267550.2(TTN):c.31980G>A (p.Arg10660=)
|
|
|
|
NM_001267550.2(TTN):c.32005C>A (p.Pro10669Thr)
|
rs945424720
|
|
|
NM_001267550.2(TTN):c.32005C>T (p.Pro10669Ser)
|
rs945424720
|
|
|
NM_001267550.2(TTN):c.32011+7dup
|
rs1577454770
|
|
|
NM_001267550.2(TTN):c.32012-13A>C
|
|
|
|
NM_001267550.2(TTN):c.32012-14T>C
|
|
|
|
NM_001267550.2(TTN):c.32012-1G>T
|
rs2154278075
|
|
|
NM_001267550.2(TTN):c.32012-8C>T
|
|
|
|
NM_001267550.2(TTN):c.32018C>G (p.Ala10673Gly)
|
rs773935335
|
|
|
NM_001267550.2(TTN):c.32037C>T (p.Val10679=)
|
|
|
|
NM_001267550.2(TTN):c.32043G>A (p.Glu10681=)
|
|
|
|
NM_001267550.2(TTN):c.32046G>A (p.Glu10682=)
|
rs2154278050
|
|
|
NM_001267550.2(TTN):c.32055A>C (p.Ala10685=)
|
rs2154278041
|
|
|
NM_001267550.2(TTN):c.3207C>T (p.Leu1069=)
|
|
|
|
NM_001267550.2(TTN):c.32090_32095+21del
|
|
|
|
NM_001267550.2(TTN):c.32092C>A (p.Arg10698=)
|
|
|
|
NM_001267550.2(TTN):c.32092C>T (p.Arg10698Ter)
|
rs1396898734
|
|
|
NM_001267550.2(TTN):c.32095+3A>G
|
|
|
|
NM_001267550.2(TTN):c.32095+5G>C
|
rs869312090
|
|
|
NM_001267550.2(TTN):c.32096-13C>T
|
|
|
|
NM_001267550.2(TTN):c.32096-1G>T
|
|
|
|
NM_001267550.2(TTN):c.32096-4_32117del
|
rs1560398348
|
|
|
NM_001267550.2(TTN):c.32096-8del
|
|
|
|
NM_001267550.2(TTN):c.32118T>C (p.Val10706=)
|
|
|
|
NM_001267550.2(TTN):c.32135_32136dup (p.Val10713fs)
|
|
|
|
NM_001267550.2(TTN):c.32136T>C (p.Phe10712=)
|
|
|
|
NM_001267550.2(TTN):c.32142T>C (p.Ala10714=)
|
|
|
|
NM_001267550.2(TTN):c.32154A>G (p.Leu10718=)
|
|
|
|
NM_001267550.2(TTN):c.32161G>T (p.Ala10721Ser)
|
rs753365187
|
|
|
NM_001267550.2(TTN):c.32163A>G (p.Ala10721=)
|
|
|
|
NM_001267550.2(TTN):c.32164G>A (p.Val10722Ile)
|
rs763742779
|
|
|
NM_001267550.2(TTN):c.32178G>A (p.Val10726=)
|
|
|
|
NM_001267550.2(TTN):c.32189G>C (p.Arg10730Pro)
|
rs771054923
|
|
|
NM_001267550.2(TTN):c.32193C>T (p.His10731=)
|
|
|
|
NM_001267550.2(TTN):c.32197+15G>T
|
|
|
|
NM_001267550.2(TTN):c.32197+18del
|
|
|
|
NM_001267550.2(TTN):c.32197+7A>G
|
rs1577441971
|
|
|
NM_001267550.2(TTN):c.32198-11A>G
|
|
|
|
NM_001267550.2(TTN):c.32198-15C>A
|
|
|
|
NM_001267550.2(TTN):c.32198-19G>C
|
|
|
|
NM_001267550.2(TTN):c.32199A>G (p.Val10733=)
|
rs769008912
|
|
|
NM_001267550.2(TTN):c.32199A>T (p.Val10733=)
|
rs769008912
|
|
|
NM_001267550.2(TTN):c.32214A>G (p.Glu10738=)
|
rs2154277347
|
|
|
NM_001267550.2(TTN):c.32238A>G (p.Glu10746=)
|
|
|
|
NM_001267550.2(TTN):c.32253A>C (p.Ser10751=)
|
rs2071380560
|
|
|
NM_001267550.2(TTN):c.3228T>C (p.Pro1076=)
|
rs876657604
|
|
|
NM_001267550.2(TTN):c.32301A>C (p.Thr10767=)
|
|
|
|
NM_001267550.2(TTN):c.32301A>G (p.Thr10767=)
|
|
|
|
NM_001267550.2(TTN):c.32311+15T>C
|
|
|
|
NM_001267550.2(TTN):c.32311+1G>T
|
rs1577433734
|
|
|
NM_001267550.2(TTN):c.32311G>A (p.Val10771Met)
|
rs549877654
|
|
|
NM_001267550.2(TTN):c.32312-12C>T
|
rs2154275548
|
|
|
NM_001267550.2(TTN):c.32312-13G>A
|
|
|
|
NM_001267550.2(TTN):c.32312-1G>C
|
rs2070649864
|
|
|
NM_001267550.2(TTN):c.32332del (p.Tyr10778fs)
|
rs2070642658
|
|
|
NM_001267550.2(TTN):c.32368A>C (p.Arg10790=)
|
|
|
|
NM_001267550.2(TTN):c.3237T>C (p.Pro1079=)
|
|
|
|
NM_001267550.2(TTN):c.32385A>C (p.Pro10795=)
|
rs2154275511
|
|
|
NM_001267550.2(TTN):c.32392+12_32392+15del
|
|
|
|
NM_001267550.2(TTN):c.32392+15T>C
|
|
|
|
NM_001267550.2(TTN):c.32392+19T>C
|
|
|
|
NM_001267550.2(TTN):c.32393-12A>C
|
|
|
|
NM_001267550.2(TTN):c.32393-14A>G
|
rs2154275385
|
|
|
NM_001267550.2(TTN):c.32393-16T>G
|
rs2154275386
|
|
|
NM_001267550.2(TTN):c.32393-7T>C
|
|
|
|
NM_001267550.2(TTN):c.32403G>A (p.Arg10801=)
|
|
|
|
NM_001267550.2(TTN):c.32406G>A (p.Gln10802=)
|
rs779469817
|
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
|
NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser)
|
rs55914517
|
|
|
NM_001267550.2(TTN):c.32427A>G (p.Lys10809=)
|
|
|
|
NM_001267550.2(TTN):c.3243G>A (p.Ala1081=)
|
rs559501661
|
|
|
NM_001267550.2(TTN):c.32446dup (p.Ile10816fs)
|
rs2154275355
|
|
|
NM_001267550.2(TTN):c.32463G>A (p.Pro10821=)
|
rs987167890
|
|
|
NM_001267550.2(TTN):c.32463G>C (p.Pro10821=)
|
|
|
|
NM_001267550.2(TTN):c.32470+10C>A
|
|
|
|
NM_001267550.2(TTN):c.32470+13T>C
|
|
|
|
NM_001267550.2(TTN):c.32470+1G>T
|
|
|
|
NM_001267550.2(TTN):c.32470+2T>C
|
|
|
|
NM_001267550.2(TTN):c.32471-14T>A
|
|
|
|
NM_001267550.2(TTN):c.32471-18A>T
|
|
|
|
NM_001267550.2(TTN):c.324A>G (p.Gln108=)
|
|
|
|
NM_001267550.2(TTN):c.32517T>C (p.Ala10839=)
|
|
|
|
NM_001267550.2(TTN):c.32538G>A (p.Lys10846=)
|
rs753667120
|
|
|
NM_001267550.2(TTN):c.32554+18_32554+22del
|
|
|
|
NM_001267550.2(TTN):c.32554+1G>A
|
rs376018437
|
|
|
NM_001267550.2(TTN):c.32554+1G>T
|
rs376018437
|
|
|
NM_001267550.2(TTN):c.32554+5_32554+6del
|
rs771419718
|
|
|
NM_001267550.2(TTN):c.32555-12G>A
|
|
|
|
NM_001267550.2(TTN):c.32556G>A (p.Val10852=)
|
|
|
|
NM_001267550.2(TTN):c.32595T>G (p.Val10865=)
|
|
|
|
NM_001267550.2(TTN):c.32638+13C>T
|
rs781170626
|
|
|
NM_001267550.2(TTN):c.32638+15C>G
|
|
|
|
NM_001267550.2(TTN):c.32638+15C>T
|
|
|
|
NM_001267550.2(TTN):c.32638+17A>G
|
|
|
|
NM_001267550.2(TTN):c.32639-2A>C
|
rs2154274686
|
|
|
NM_001267550.2(TTN):c.32656C>T (p.Gln10886Ter)
|
|
|
|
NM_001267550.2(TTN):c.32658A>G (p.Gln10886=)
|
|
|
|
NM_001267550.2(TTN):c.32664C>A (p.Thr10888=)
|
|
|
|
NM_001267550.2(TTN):c.32667G>A (p.Gln10889=)
|
rs1449221797
|
|
|
NM_001267550.2(TTN):c.32700dup (p.Glu10901fs)
|
|
|
|
NM_001267550.2(TTN):c.32703G>A (p.Glu10901=)
|
rs397517542
|
|
|
NM_001267550.2(TTN):c.32703_33665-50del
|
|
|
|
NM_001267550.2(TTN):c.32706G>T (p.Ala10902=)
|
rs372124201
|
|
|
NM_001267550.2(TTN):c.32712A>G (p.Pro10904=)
|
|
|
|
NM_001267550.2(TTN):c.32722+13T>G
|
|
|
|
NM_001267550.2(TTN):c.32722+16C>T
|
|
|
|
NM_001267550.2(TTN):c.32722+9G>T
|
rs148231130
|
|
|
NM_001267550.2(TTN):c.32723-5T>C
|
|
|
|
NM_001267550.2(TTN):c.32727A>T (p.Pro10909=)
|
rs756675105
|
|
|
NM_001267550.2(TTN):c.32736G>T (p.Pro10912=)
|
rs368838709
|
|
|
NM_001267550.2(TTN):c.32761G>C (p.Val10921Leu)
|
rs775126784
|
|
|
NM_001267550.2(TTN):c.3277C>T (p.Leu1093=)
|
|
|
|
NM_001267550.2(TTN):c.32790G>A (p.Glu10930=)
|
rs2154274077
|
|
|
NM_001267550.2(TTN):c.32793A>G (p.Glu10931=)
|
|
|
|
NM_001267550.2(TTN):c.32806G>A (p.Val10936Met)
|
|
|
|
NM_001267550.2(TTN):c.32807-13T>C
|
|
|
|
NM_001267550.2(TTN):c.32807-16A>G
|
|
|
|
NM_001267550.2(TTN):c.32807-19A>C
|
|
|
|
NM_001267550.2(TTN):c.32850A>C (p.Ser10950=)
|
rs2154273143
|
|
|
NM_001267550.2(TTN):c.32850A>T (p.Ser10950=)
|
rs2154273143
|
|
|
NM_001267550.2(TTN):c.32866A>C (p.Arg10956=)
|
|
|
|
NM_001267550.2(TTN):c.32879C>A (p.Pro10960His)
|
rs879029800
|
|
|
NM_001267550.2(TTN):c.32883_32887+6del
|
|
|
|
NM_001267550.2(TTN):c.32887+11C>G
|
|
|
|
NM_001267550.2(TTN):c.32887+13T>C
|
|
|
|
NM_001267550.2(TTN):c.32887+15G>C
|
|
|
|
NM_001267550.2(TTN):c.32887+17T>C
|
rs2154273045
|
|
|
NM_001267550.2(TTN):c.32887+1G>A
|
rs546105899
|
|
|
NM_001267550.2(TTN):c.32887+1G>T
|
rs546105899
|
|
|
NM_001267550.2(TTN):c.32887+2T>C
|
rs2154273077
|
|
|
NM_001267550.2(TTN):c.32887+9A>C
|
|
|
|
NM_001267550.2(TTN):c.32888-19G>A
|
rs141514650
|
|
|
NM_001267550.2(TTN):c.32888-1del
|
rs869312041
|
|
|
NM_001267550.2(TTN):c.32899A>G (p.Met10967Val)
|
rs1392264858
|
|
|
NM_001267550.2(TTN):c.3291G>C (p.Gly1097=)
|
|
|
|
NM_001267550.2(TTN):c.32928A>G (p.Leu10976=)
|
|
|
|
NM_001267550.2(TTN):c.32930AAG[2] (p.Glu10979del)
|
rs774683936
|
|
|
NM_001267550.2(TTN):c.3294C>T (p.Ser1098=)
|
rs745660374
|
|
|
NM_001267550.2(TTN):c.32955G>A (p.Arg10985=)
|
|
|
|
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1])
|
rs766756026
|
|
|
NM_001267550.2(TTN):c.32979A>G (p.Glu10993=)
|
|
|
|
NM_001267550.2(TTN):c.33003G>A (p.Glu11001=)
|
rs751526531
|
|
|
NM_001267550.2(TTN):c.33018A>G (p.Thr11006=)
|
rs765492188
|
|
|
NM_001267550.2(TTN):c.33052C>A (p.Arg11018=)
|
|
|
|
NM_001267550.2(TTN):c.33064C>A (p.Arg11022=)
|
|
|
|
NM_001267550.2(TTN):c.33064C>T (p.Arg11022Ter)
|
rs747806875
|
|
|
NM_001267550.2(TTN):c.3306A>T (p.Gly1102=)
|
|
|
|
NM_001267550.2(TTN):c.33075G>A (p.Glu11025=)
|
|
|
|
NM_001267550.2(TTN):c.33083_33086dup (p.Tyr11029Ter)
|
rs2154271814
|
|
|
NM_001267550.2(TTN):c.33094+13C>G
|
|
|
|
NM_001267550.2(TTN):c.33094+14T>G
|
|
|
|
NM_001267550.2(TTN):c.33094+9A>C
|
rs890015887
|
|
|
NM_001267550.2(TTN):c.33094G>A (p.Glu11032Lys)
|
rs2154271806
|
|
|
NM_001267550.2(TTN):c.33095-14A>G
|
|
|
|
NM_001267550.2(TTN):c.33095-14A>T
|
|
|
|
NM_001267550.2(TTN):c.33095-17T>C
|
|
|
|
NM_001267550.2(TTN):c.33095-19C>A
|
|
|
|
NM_001267550.2(TTN):c.33095-19C>T
|
|
|
|
NM_001267550.2(TTN):c.33095-6T>C
|
|
|
|
NM_001267550.2(TTN):c.33095-9C>A
|
|
|
|
NM_001267550.2(TTN):c.33095-9del
|
|
|
|
NM_001267550.2(TTN):c.3309C>A (p.Cys1103Ter)
|
rs1467686861
|
|
|
NM_001267550.2(TTN):c.3309C>T (p.Cys1103=)
|
rs1467686861
|
|
|
NM_001267550.2(TTN):c.330G>A (p.Leu110=)
|
rs778271204
|
|
|
NM_001267550.2(TTN):c.33108T>A (p.Pro11036=)
|
|
|
|
NM_001267550.2(TTN):c.3310C>T (p.Gln1104Ter)
|
|
|
|
NM_001267550.2(TTN):c.33126C>G (p.Val11042=)
|
rs72650036
|
|
|
NM_001267550.2(TTN):c.33159C>T (p.Ala11053=)
|
|
|
|
NM_001267550.2(TTN):c.33162A>C (p.Pro11054=)
|
|
|
|
NM_001267550.2(TTN):c.33172+15del
|
rs559323758
|
|
|
NM_001267550.2(TTN):c.33172+15dup
|
rs559323758
|
|
|
NM_001267550.2(TTN):c.33172+19T>C
|
|
|
|
NM_001267550.2(TTN):c.33172G>A (p.Val11058Met)
|
|
|
|
NM_001267550.2(TTN):c.33173-11A>G
|
|
|
|
NM_001267550.2(TTN):c.33173-1G>A
|
rs794729256
|
|
|
NM_001267550.2(TTN):c.33174G>A (p.Val11058=)
|
rs1219892531
|
|
|
NM_001267550.2(TTN):c.3318C>G (p.Gly1106=)
|
rs141768043
|
|
|
NM_001267550.2(TTN):c.33198A>G (p.Glu11066=)
|
|
|
|
NM_001267550.2(TTN):c.33204A>G (p.Val11068=)
|
|
|
|
NM_001267550.2(TTN):c.33213C>T (p.Pro11071=)
|
|
|
|
NM_001267550.2(TTN):c.33215T>G (p.Ile11072Ser)
|
rs1553836426
|
|
|
NM_001267550.2(TTN):c.33240A>G (p.Pro11080=)
|
rs2154270977
|
|
|
NM_001267550.2(TTN):c.33240A>T (p.Pro11080=)
|
rs2154270977
|
|
|
NM_001267550.2(TTN):c.33247+19A>T
|
|
|
|
NM_001267550.2(TTN):c.33247+2T>A
|
|
|
|
NM_001267550.2(TTN):c.33248-13A>C
|
|
|
|
NM_001267550.2(TTN):c.33248-13A>G
|
|
|
|
NM_001267550.2(TTN):c.33248-14T>C
|
rs2154270829
|
|
|
NM_001267550.2(TTN):c.33248-4A>T
|
|
|
|
NM_001267550.2(TTN):c.33249G>A (p.Val11083=)
|
rs773979636
|
|
|
NM_001267550.2(TTN):c.33252T>C (p.Pro11084=)
|
|
|
|
NM_001267550.2(TTN):c.33276G>A (p.Glu11092=)
|
rs1057523198
|
|
|
NM_001267550.2(TTN):c.33283dup (p.Ile11095fs)
|
|
|
|
NM_001267550.2(TTN):c.33288T>C (p.Arg11096=)
|
|
|
|
NM_001267550.2(TTN):c.33289_33290del (p.Ile11097fs)
|
|
|
|
NM_001267550.2(TTN):c.33297T>C (p.Ile11099=)
|
|
|
|
NM_001267550.2(TTN):c.33318G>A (p.Gln11106=)
|
|
|
|
NM_001267550.2(TTN):c.33333T>G (p.Ala11111=)
|
|
|
|
NM_001267550.2(TTN):c.33339A>G (p.Lys11113=)
|
rs926306750
|
|
|
NM_001267550.2(TTN):c.33340+1dup
|
rs794729310
|
|
|
NM_001267550.2(TTN):c.33340+8G>C
|
|
|
|
NM_001267550.2(TTN):c.33340G>T (p.Val11114Leu)
|
rs1328375389
|
|
|
NM_001267550.2(TTN):c.33341-20C>T
|
|
|
|
NM_001267550.2(TTN):c.33341-4C>T
|
rs1577329628
|
|
|
NM_001267550.2(TTN):c.33342G>A (p.Val11114=)
|
rs1577329587
|
|
|
NM_001267550.2(TTN):c.33344C>A (p.Pro11115His)
|
rs1060500394
|
|
|
NM_001267550.2(TTN):c.33354C>G (p.Pro11118=)
|
|
|
|
NM_001267550.2(TTN):c.33360G>A (p.Arg11120=)
|
rs2154270305
|
|
|
NM_001267550.2(TTN):c.3336T>C (p.His1112=)
|
rs2154349668
|
|
|
NM_001267550.2(TTN):c.33377A>C (p.Lys11126Thr)
|
rs760742068
|
|
|
NM_001267550.2(TTN):c.33384T>A (p.Pro11128=)
|
|
|
|
NM_001267550.2(TTN):c.3339A>G (p.Val1113=)
|
|
|
|
NM_001267550.2(TTN):c.33417_33418+1del
|
rs2069047923
|
|
|
NM_001267550.2(TTN):c.33418+10G>A
|
|
|
|
NM_001267550.2(TTN):c.33418+11G>A
|
|
|
|
NM_001267550.2(TTN):c.33418+11del
|
rs779637808
|
|
|
NM_001267550.2(TTN):c.33418+12del
|
|
|
|
NM_001267550.2(TTN):c.33418+13A>G
|
rs2154270231
|
|
|
NM_001267550.2(TTN):c.33418+14C>G
|
rs1481386826
|
|
|
NM_001267550.2(TTN):c.33418+15T>G
|
|
|
|
NM_001267550.2(TTN):c.33418+2T>A
|
rs779749654
|
|
|
NM_001267550.2(TTN):c.33418+8A>G
|
|
|
|
NM_001267550.2(TTN):c.33419-16G>A
|
|
|
|
NM_001267550.2(TTN):c.33429G>C (p.Val11143=)
|
|
|
|
NM_001267550.2(TTN):c.3342C>T (p.Tyr1114=)
|
rs1427583041
|
|
|
NM_001267550.2(TTN):c.3344G>A (p.Trp1115Ter)
|
rs2154349662
|
|
|
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)
|
rs368327166
|
|
|
NM_001267550.2(TTN):c.3351dup (p.Ser1118fs)
|
rs2092847994
|
|
|
NM_001267550.2(TTN):c.33540C>T (p.Phe11180=)
|
rs1577324161
|
|
|
NM_001267550.2(TTN):c.33558G>T (p.Val11186=)
|
rs1389245451
|
|
|
NM_001267550.2(TTN):c.33569T>C (p.Ile11190Thr)
|
|
|
|
NM_001267550.2(TTN):c.33570A>T (p.Ile11190=)
|
|
|
|
NM_001267550.2(TTN):c.3357T>C (p.Gly1119=)
|
rs2154349653
|
|
|
NM_001267550.2(TTN):c.33580+12del
|
|
|
|
NM_001267550.2(TTN):c.33580+14C>G
|
rs1357526514
|
|
|
NM_001267550.2(TTN):c.33580+15C>T
|
|
|
|
NM_001267550.2(TTN):c.33580+1G>A
|
rs2068947933
|
|
|
NM_001267550.2(TTN):c.33580+2T>C
|
|
|
|
NM_001267550.2(TTN):c.33580+7G>A
|
|
|
|
NM_001267550.2(TTN):c.33580+8A>C
|
rs1416294540
|
|
|
NM_001267550.2(TTN):c.33581-11T>C
|
rs2068888256
|
|
|
NM_001267550.2(TTN):c.33581-2A>T
|
|
|
|
NM_001267550.2(TTN):c.33581-6T>C
|
|
|
|
NM_001267550.2(TTN):c.33588G>A (p.Glu11196=)
|
rs2154269878
|
|
|
NM_001267550.2(TTN):c.33597G>A (p.Arg11199=)
|
|
|
|
NM_001267550.2(TTN):c.33618G>A (p.Lys11206=)
|
|
|
|
NM_001267550.2(TTN):c.33648del (p.Ala11217fs)
|
|
|
|
NM_001267550.2(TTN):c.3364C>T (p.Leu1122=)
|
rs2154349646
|
|
|
NM_001267550.2(TTN):c.33656C>T (p.Pro11219Leu)
|
rs757268986
|
|
|
NM_001267550.2(TTN):c.33664+16T>C
|
|
|
|
NM_001267550.2(TTN):c.33664+18G>A
|
rs2154269790
|
|
|
NM_001267550.2(TTN):c.33665-10A>T
|
|
|
|
NM_001267550.2(TTN):c.33665-19A>G
|
|
|
|
NM_001267550.2(TTN):c.33687A>G (p.Pro11229=)
|
rs2068811951
|
|
|
NM_001267550.2(TTN):c.3369C>T (p.Thr1123=)
|
rs2154349644
|
|
|
NM_001267550.2(TTN):c.33710_33725del (p.Ile11237fs)
|
rs2154269652
|
|
|
NM_001267550.2(TTN):c.33742+10T>A
|
|
|
|
NM_001267550.2(TTN):c.33742+16C>T
|
|
|
|
NM_001267550.2(TTN):c.33742+3A>G
|
|
|
|
NM_001267550.2(TTN):c.33742+5A>C
|
rs2068798031
|
|
|
NM_001267550.2(TTN):c.33742G>A (p.Val11248Ile)
|
rs996345107
|
|
|
NM_001267550.2(TTN):c.33743-14T>G
|
rs2154269351
|
|
|
NM_001267550.2(TTN):c.33743-19C>G
|
|
|
|
NM_001267550.2(TTN):c.33743-6T>G
|
|
|
|
NM_001267550.2(TTN):c.33743-9T>C
|
rs1383292065
|
|
|
NM_001267550.2(TTN):c.33747T>C (p.Pro11249=)
|
|
|
|
NM_001267550.2(TTN):c.33775G>A (p.Glu11259Lys)
|
rs1060500563
|
|
|
NM_001267550.2(TTN):c.337A>G (p.Met113Val)
|
rs1060500430
|
|
|
NM_001267550.2(TTN):c.3381-13C>T
|
|
|
|
NM_001267550.2(TTN):c.3381-16G>C
|
rs1375876123
|
|
|
NM_001267550.2(TTN):c.3381-19T>C
|
|
|
|
NM_001267550.2(TTN):c.33813T>C (p.Ala11271=)
|
rs1281755701
|
|
|
NM_001267550.2(TTN):c.33813T>G (p.Ala11271=)
|
|
|
|
NM_001267550.2(TTN):c.33817_33826+8del
|
rs2154269293
|
|
|
NM_001267550.2(TTN):c.33826+15A>C
|
|
|
|
NM_001267550.2(TTN):c.33826+16A>G
|
|
|
|
NM_001267550.2(TTN):c.33826+19T>C
|
|
|
|
NM_001267550.2(TTN):c.33826+1G>A
|
rs1389908421
|
|
|
NM_001267550.2(TTN):c.33826+7G>A
|
rs752099208
|
|
|
NM_001267550.2(TTN):c.33826+7G>T
|
rs752099208
|
|
|
NM_001267550.2(TTN):c.33826G>A (p.Val11276Met)
|
|
|
|
NM_001267550.2(TTN):c.33827-12A>G
|
|
|
|
NM_001267550.2(TTN):c.33827-13C>G
|
rs1402564356
|
|
|
NM_001267550.2(TTN):c.33827-1G>A
|
rs2068604683
|
|
|
NM_001267550.2(TTN):c.33827-4A>C
|
|
|
|
NM_001267550.2(TTN):c.33827-7G>T
|
rs1365231174
|
|
|
NM_001267550.2(TTN):c.33885G>A (p.Lys11295=)
|
|
|
|
NM_001267550.2(TTN):c.33892G>T (p.Glu11298Ter)
|
|
|
|
NM_001267550.2(TTN):c.33910+11T>C
|
|
|
|
NM_001267550.2(TTN):c.33910+14T>G
|
|
|
|
NM_001267550.2(TTN):c.33911-11T>C
|
|
|
|
NM_001267550.2(TTN):c.33911-14T>C
|
|
|
|
NM_001267550.2(TTN):c.33911-20T>C
|
|
|
|
NM_001267550.2(TTN):c.33911-9T>A
|
|
|
|
NM_001267550.2(TTN):c.33912G>T (p.Val11304=)
|
|
|
|
NM_001267550.2(TTN):c.33924C>A (p.Pro11308=)
|
|
|
|
NM_001267550.2(TTN):c.33939A>G (p.Pro11313=)
|
|
|
|
NM_001267550.2(TTN):c.3396C>A (p.Tyr1132Ter)
|
|
|
|
NM_001267550.2(TTN):c.33975G>A (p.Val11325=)
|
rs1560303919
|
|
|
NM_001267550.2(TTN):c.33987A>C (p.Pro11329=)
|
|
|
|
NM_001267550.2(TTN):c.33994+19G>A
|
|
|
|
NM_001267550.2(TTN):c.33994+7T>C
|
|
|
|
NM_001267550.2(TTN):c.33994+9A>C
|
rs2154268922
|
|
|
NM_001267550.2(TTN):c.33995-16A>G
|
|
|
|
NM_001267550.2(TTN):c.33995-18G>T
|
rs767774726
|
|
|
NM_001267550.2(TTN):c.33995-5T>C
|
rs774359312
|
|
|
NM_001267550.2(TTN):c.33995-6T>G
|
|
|
|
NM_001267550.2(TTN):c.34011A>G (p.Glu11337=)
|
|
|
|
NM_001267550.2(TTN):c.34022_34041del (p.Val11341fs)
|
|
|
|
NM_001267550.2(TTN):c.34039C>T (p.Gln11347Ter)
|
rs2154268786
|
|
|
NM_001267550.2(TTN):c.3404_3407dup (p.Gly1137fs)
|
rs2154348982
|
|
|
NM_001267550.2(TTN):c.34075C>G (p.Pro11359Ala)
|
rs1060500464
|
|
|
NM_001267550.2(TTN):c.34077T>G (p.Pro11359=)
|
|
|
|
NM_001267550.2(TTN):c.34080del (p.Glu11361fs)
|
|
|
|
NM_001267550.2(TTN):c.34086A>G (p.Glu11362=)
|
rs2154268754
|
|
|
NM_001267550.2(TTN):c.34092A>T (p.Leu11364=)
|
rs765888527
|
|
|
NM_001267550.2(TTN):c.34093_34102del (p.Pro11365fs)
|
rs1553823547
|
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[1] (p.11363VLPEEEE[3])
|
rs397517548
|
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5])
|
rs397517548
|
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[4] (p.11363VLPEEEE[6])
|
rs397517548
|
|
|
NM_001267550.2(TTN):c.34108G>A (p.Val11370Ile)
|
rs1060500545
|
|
|
NM_001267550.2(TTN):c.34113A>G (p.Leu11371=)
|
|
|
|
NM_001267550.2(TTN):c.34119G>A (p.Glu11373=)
|
rs548399416
|
|
|
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3])
|
rs587780487
|
|
|
NM_001267550.2(TTN):c.34132C>T (p.Leu11378=)
|
rs960128787
|
|
|
NM_001267550.2(TTN):c.34134A>C (p.Leu11378=)
|
rs575740245
|
|
|
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=)
|
rs147418835
|
|
|
NM_001267550.2(TTN):c.34146G>A (p.Glu11382=)
|
rs1560300288
|
|
|
NM_001267550.2(TTN):c.34161A>G (p.Glu11387=)
|
rs780975680
|
|
|
NM_001267550.2(TTN):c.34173T>C (p.Ile11391=)
|
|
|
|
NM_001267550.2(TTN):c.3417C>A (p.Cys1139Ter)
|
|
|
|
NM_001267550.2(TTN):c.3417C>T (p.Cys1139=)
|
|
|
|
NM_001267550.2(TTN):c.34191A>G (p.Glu11397=)
|
|
|
|
NM_001267550.2(TTN):c.34207G>T (p.Glu11403Ter)
|
rs878921943
|
|
|
NM_001267550.2(TTN):c.34212T>C (p.Tyr11404=)
|
|
|
|
NM_001267550.2(TTN):c.34225G>A (p.Glu11409Lys)
|
rs770657053
|
|
|
NM_001267550.2(TTN):c.34236A>G (p.Val11412=)
|
|
|
|
NM_001267550.2(TTN):c.34239T>C (p.Pro11413=)
|
|
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
|
NM_001267550.2(TTN):c.34247_34248delinsTC (p.Glu11416Val)
|
rs1060500408
|
|
|
NM_001267550.2(TTN):c.34251C>A (p.Val11417=)
|
|
|
|
NM_001267550.2(TTN):c.34251C>G (p.Val11417=)
|
rs368972294
|
|
|
NM_001267550.2(TTN):c.34253_34277del (p.Leu11418fs)
|
rs1373610867
|
|
|
NM_001267550.2(TTN):c.34258G>T (p.Glu11420Ter)
|
|
|
|
NM_001267550.2(TTN):c.34275G>T (p.Val11425=)
|
|
|
|
NM_001267550.2(TTN):c.34291+12C>T
|
|
|
|
NM_001267550.2(TTN):c.34291+17T>C
|
|
|
|
NM_001267550.2(TTN):c.34291+19G>A
|
|
|
|
NM_001267550.2(TTN):c.34291+7C>T
|
rs1577290426
|
|
|
NM_001267550.2(TTN):c.34291+9G>A
|
|
|
|
NM_001267550.2(TTN):c.34291+9_34291+10delinsAG
|
rs2154268582
|
|
|
NM_001267550.2(TTN):c.34292-18A>C
|
rs2154268300
|
|
|
NM_001267550.2(TTN):c.34292-9G>A
|
rs1577285224
|
|
|
NM_001267550.2(TTN):c.34314T>C (p.Pro11438=)
|
rs993206696
|
|
|
NM_001267550.2(TTN):c.3432T>C (p.Ser1144=)
|
rs1574739722
|
|
|
NM_001267550.2(TTN):c.34335T>G (p.Pro11445=)
|
rs2154268254
|
|
|
NM_001267550.2(TTN):c.34344C>T (p.Ala11448=)
|
|
|
|
NM_001267550.2(TTN):c.34356G>T (p.Val11452=)
|
rs2154268233
|
|
|
NM_001267550.2(TTN):c.34378+12C>T
|
|
|
|
NM_001267550.2(TTN):c.34378+13A>G
|
rs2154268202
|
|
|
NM_001267550.2(TTN):c.34378+14A>C
|
rs759443400
|
|
|
NM_001267550.2(TTN):c.34378+18G>T
|
|
|
|
NM_001267550.2(TTN):c.34378+1del
|
rs1462972904
|
|
|
NM_001267550.2(TTN):c.34378+8dup
|
|
|
|
NM_001267550.2(TTN):c.34379-13G>C
|
rs1391671163
|
|
|
NM_001267550.2(TTN):c.34379-1G>C
|
|
|
|
NM_001267550.2(TTN):c.34379-3A>T
|
rs1060500497
|
|
|
NM_001267550.2(TTN):c.34379-9T>C
|
|
|
|
NM_001267550.2(TTN):c.34400T>C (p.Val11467Ala)
|
rs981211046
|
|
|
NM_001267550.2(TTN):c.34402_34416del (p.Thr11468_Val11472del)
|
rs754236839
|
|
|
NM_001267550.2(TTN):c.34416G>A (p.Val11472=)
|
rs754009879
|
|
|
NM_001267550.2(TTN):c.34425C>T (p.Pro11475=)
|
rs2154267433
|
|
|
NM_001267550.2(TTN):c.34453+14G>A
|
rs397517550
|
|
|
NM_001267550.2(TTN):c.34453+14G>C
|
|
|
|
NM_001267550.2(TTN):c.34453+18T>C
|
|
|
|
NM_001267550.2(TTN):c.34453+20A>G
|
|
|
|
NM_001267550.2(TTN):c.34454-10A>G
|
rs2154267293
|
|
|
NM_001267550.2(TTN):c.34454-12A>G
|
rs1452074495
|
|
|
NM_001267550.2(TTN):c.34454-4A>T
|
rs1319663707
|
|
|
NM_001267550.2(TTN):c.34473A>G (p.Lys11491=)
|
rs1218273224
|
|
|
NM_001267550.2(TTN):c.34486A>G (p.Lys11496Glu)
|
rs1034048129
|
|
|
NM_001267550.2(TTN):c.34486A>T (p.Lys11496Ter)
|
|
|
|
NM_001267550.2(TTN):c.34491G>A (p.Lys11497=)
|
rs764860706
|
|
|
NM_001267550.2(TTN):c.34537+11C>T
|
|
|
|
NM_001267550.2(TTN):c.34537+13A>G
|
|
|
|
NM_001267550.2(TTN):c.34537+20G>T
|
|
|
|
NM_001267550.2(TTN):c.34538-10G>A
|
|
|
|
NM_001267550.2(TTN):c.34538-14C>T
|
|
|
|
NM_001267550.2(TTN):c.34538-18T>A
|
rs2154266870
|
|
|
NM_001267550.2(TTN):c.34538-7T>C
|
rs2067758061
|
|
|
NM_001267550.2(TTN):c.34548G>A (p.Val11516=)
|
rs1400343685
|
|
|
NM_001267550.2(TTN):c.3457G>T (p.Glu1153Ter)
|
rs2092730732
|
|
|
NM_001267550.2(TTN):c.34581C>T (p.Leu11527=)
|
rs781699559
|
|
|
NM_001267550.2(TTN):c.34592A>G (p.Glu11531Gly)
|
rs1553815943
|
|
|
NM_001267550.2(TTN):c.34596A>G (p.Glu11532=)
|
rs2067738782
|
|
|
NM_001267550.2(TTN):c.345G>C (p.Val115=)
|
rs1163742186
|
|
|
NM_001267550.2(TTN):c.34602A>G (p.Leu11534=)
|
|
|
|
NM_001267550.2(TTN):c.34612+2T>C
|
rs1577253441
|
|
|
NM_001267550.2(TTN):c.34613-10C>A
|
rs536191523
|
|
|
NM_001267550.2(TTN):c.34613-17T>C
|
|
|
|
NM_001267550.2(TTN):c.34613-18A>C
|
rs372828399
|
|
|
NM_001267550.2(TTN):c.34613-25_34613-14del
|
|
|
|
NM_001267550.2(TTN):c.34613-5del
|
rs1295942965
|
|
|
NM_001267550.2(TTN):c.34620G>A (p.Glu11540=)
|
rs2154266461
|
|
|
NM_001267550.2(TTN):c.34623G>A (p.Glu11541=)
|
rs1553814697
|
|
|
NM_001267550.2(TTN):c.34632A>G (p.Glu11544=)
|
|
|
|
NM_001267550.2(TTN):c.34641T>C (p.Ile11547=)
|
rs1577246475
|
|
|
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del)
|
rs763098227
|
|
|
NM_001267550.2(TTN):c.34674C>T (p.Ser11558=)
|
rs1195308025
|
|
|
NM_001267550.2(TTN):c.34684G>A (p.Val11562Ile)
|
rs1060500397
|
|
|
NM_001267550.2(TTN):c.34701A>G (p.Pro11567=)
|
rs2154266422
|
|
|
NM_001267550.2(TTN):c.34704T>A (p.Pro11568=)
|
|
|
|
NM_001267550.2(TTN):c.34708+10C>G
|
rs2067585344
|
|
|
NM_001267550.2(TTN):c.34708+8C>A
|
rs762808097
|
|
|
NM_001267550.2(TTN):c.34708+8C>T
|
rs762808097
|
|
|
NM_001267550.2(TTN):c.34708+9G>A
|
rs397517551
|
|
|
NM_001267550.2(TTN):c.34708+9G>T
|
rs397517551
|
|
|
NM_001267550.2(TTN):c.34709-16T>C
|
|
|
|
NM_001267550.2(TTN):c.34709-1G>A
|
rs727503634
|
|
|
NM_001267550.2(TTN):c.34709-8C>A
|
|
|
|
NM_001267550.2(TTN):c.34709-8_34709-4del
|
|
|
|
NM_001267550.2(TTN):c.34719G>A (p.Val11573=)
|
|
|
|
NM_001267550.2(TTN):c.34719G>C (p.Val11573=)
|
|
|
|
NM_001267550.2(TTN):c.34719G>T (p.Val11573=)
|
rs2067431814
|
|
|
NM_001267550.2(TTN):c.34722T>C (p.Ile11574=)
|
|
|
|
NM_001267550.2(TTN):c.34731A>G (p.Ala11577=)
|
|
|
|
NM_001267550.2(TTN):c.34742C>T (p.Ala11581Val)
|
rs1060500436
|
|
|
NM_001267550.2(TTN):c.34749T>A (p.Thr11583=)
|
|
|
|
NM_001267550.2(TTN):c.3476G>A (p.Arg1159His)
|
rs149883066
|
|
|
NM_001267550.2(TTN):c.34786+16A>G
|
|
|
|
NM_001267550.2(TTN):c.34786+1G>T
|
rs879010418
|
|
|
NM_001267550.2(TTN):c.34786+3del
|
|
|
|
NM_001267550.2(TTN):c.34786G>A (p.Val11596Met)
|
rs794729415
|
|
|
NM_001267550.2(TTN):c.34787-12A>G
|
rs1023726354
|
|
|
NM_001267550.2(TTN):c.34787-12A>T
|
|
|
|
NM_001267550.2(TTN):c.34787-19A>G
|
|
|
|
NM_001267550.2(TTN):c.34787-19del
|
rs749050618
|
|
|
NM_001267550.2(TTN):c.34787-8C>A
|
|
|
|
NM_001267550.2(TTN):c.34806G>A (p.Glu11602=)
|
rs960959727
|
|
|
NM_001267550.2(TTN):c.34812del (p.Val11605fs)
|
|
|
|
NM_001267550.2(TTN):c.34816C>T (p.Pro11606Ser)
|
rs1553810609
|
|
|
NM_001267550.2(TTN):c.34823C>T (p.Pro11608Leu)
|
rs1553810583
|
|
|
NM_001267550.2(TTN):c.34823del (p.Pro11608fs)
|
|
|
|
NM_001267550.2(TTN):c.34855+20C>A
|
|
|
|
NM_001267550.2(TTN):c.34855+7C>T
|
rs397517552
|
|
|
NM_001267550.2(TTN):c.34855+9_34855+11del
|
rs1196572661
|
|
|
NM_001267550.2(TTN):c.34855G>A (p.Val11619Met)
|
rs1560262245
|
|
|
NM_001267550.2(TTN):c.34856-4A>C
|
|
|
|
NM_001267550.2(TTN):c.34860T>C (p.Pro11620=)
|
rs2154265284
|
|
|
NM_001267550.2(TTN):c.34863A>G (p.Glu11621=)
|
rs2067179453
|
|
|
NM_001267550.2(TTN):c.34863del (p.Val11622fs)
|
|
|
|
NM_001267550.2(TTN):c.34866A>C (p.Val11622=)
|
rs2154265272
|
|
|
NM_001267550.2(TTN):c.34899G>A (p.Val11633=)
|
|
|
|
NM_001267550.2(TTN):c.34902T>C (p.Pro11634=)
|
rs2154265252
|
|
|
NM_001267550.2(TTN):c.34930+11A>G
|
|
|
|
NM_001267550.2(TTN):c.34931-10G>A
|
rs1553809647
|
|
|
NM_001267550.2(TTN):c.34931-19A>T
|
|
|
|
NM_001267550.2(TTN):c.34931-7C>T
|
rs1399634823
|
|
|
NM_001267550.2(TTN):c.34938T>G (p.Thr11646=)
|
|
|
|
NM_001267550.2(TTN):c.34941C>T (p.Val11647=)
|
|
|
|
NM_001267550.2(TTN):c.34953A>G (p.Lys11651=)
|
|
|
|
NM_001267550.2(TTN):c.34956A>G (p.Val11652=)
|
rs968242803
|
|
|
NM_001267550.2(TTN):c.3495T>A (p.Thr1165=)
|
|
|
|
NM_001267550.2(TTN):c.34971C>A (p.Arg11657=)
|
rs2067128451
|
|
|
NM_001267550.2(TTN):c.34977A>G (p.Glu11659=)
|
rs2154265058
|
|
|
NM_001267550.2(TTN):c.34979T>C (p.Val11660Ala)
|
rs1553809428
|
|
|
NM_001267550.2(TTN):c.34996C>T (p.Leu11666=)
|
rs1008889151
|
|
|
NM_001267550.2(TTN):c.3501A>C (p.Ala1167=)
|
rs764659004
|
|
|
NM_001267550.2(TTN):c.3501A>T (p.Ala1167=)
|
rs764659004
|
|
|
NM_001267550.2(TTN):c.35025G>A (p.Val11675=)
|
rs1047010138
|
|
|
NM_001267550.2(TTN):c.35044del (p.Glu11682fs)
|
rs2067110004
|
|
|
NM_001267550.2(TTN):c.35055T>C (p.His11685=)
|
rs371193038
|
|
|
NM_001267550.2(TTN):c.35079A>G (p.Glu11693=)
|
rs779550415
|
|
|
NM_001267550.2(TTN):c.35104T>G (p.Phe11702Val)
|
rs1553809123
|
|
|
NM_001267550.2(TTN):c.3510C>T (p.Ser1170=)
|
|
|
|
NM_001267550.2(TTN):c.35123del (p.His11708fs)
|
|
|
|
NM_001267550.2(TTN):c.35124T>C (p.His11708=)
|
rs1553809060
|
|
|
NM_001267550.2(TTN):c.35125A>T (p.Arg11709Ter)
|
|
|
|
NM_001267550.2(TTN):c.35154dup (p.Val11719fs)
|
rs2067087661
|
|
|
NM_001267550.2(TTN):c.35155G>T (p.Val11719Phe)
|
rs754098075
|
|
|
NM_001267550.2(TTN):c.35156T>C (p.Val11719Ala)
|
rs754536506
|
|
|
NM_001267550.2(TTN):c.35160T>C (p.His11720=)
|
|
|
|
NM_001267550.2(TTN):c.35193G>A (p.Val11731=)
|
rs1303996939
|
|
|
NM_001267550.2(TTN):c.3519A>G (p.Glu1173=)
|
|
|
|
NM_001267550.2(TTN):c.35211A>G (p.Pro11737=)
|
rs1308954903
|
|
|
NM_001267550.2(TTN):c.35227+3A>G
|
rs1577214679
|
|
|
NM_001267550.2(TTN):c.35227+7G>A
|
|
|
|
NM_001267550.2(TTN):c.35228-19A>C
|
|
|
|
NM_001267550.2(TTN):c.35228-6T>C
|
rs1399428209
|
|
|
NM_001267550.2(TTN):c.35228-9T>A
|
rs537626868
|
|
|
NM_001267550.2(TTN):c.3523+15A>G
|
|
|
|
NM_001267550.2(TTN):c.3523+18T>G
|
|
|
|
NM_001267550.2(TTN):c.3523+20C>G
|
|
|
|
NM_001267550.2(TTN):c.3523+9A>C
|
rs727503700
|
|
|
NM_001267550.2(TTN):c.3523G>A (p.Ala1175Thr)
|
rs397517570
|
|
|
NM_001267550.2(TTN):c.3524-16T>C
|
rs932601453
|
|
|
NM_001267550.2(TTN):c.3524-7C>T
|
rs2154348290
|
|
|
NM_001267550.2(TTN):c.35250C>A (p.Ile11750=)
|
|
|
|
NM_001267550.2(TTN):c.35265dup (p.Pro11756fs)
|
rs1198364572
|
|
|
NM_001267550.2(TTN):c.35283T>G (p.Val11761=)
|
|
|
|
NM_001267550.2(TTN):c.35291A>G (p.Lys11764Arg)
|
rs1060500446
|
|
|
NM_001267550.2(TTN):c.35295G>A (p.Glu11765=)
|
rs1386775513
|
|
|
NM_001267550.2(TTN):c.35308+1G>A
|
|
|
|
NM_001267550.2(TTN):c.35308+1G>T
|
rs1423135750
|
|
|
NM_001267550.2(TTN):c.35308+8C>T
|
|
|
|
NM_001267550.2(TTN):c.35309-15C>T
|
rs2154263887
|
|
|
NM_001267550.2(TTN):c.35309-16A>C
|
|
|
|
NM_001267550.2(TTN):c.35309-1G>A
|
|
|
|
NM_001267550.2(TTN):c.35309-8C>T
|
|
|
|
NM_001267550.2(TTN):c.35321_35322del (p.Pro11774fs)
|
|
|
|
NM_001267550.2(TTN):c.35328A>G (p.Lys11776=)
|
rs879101062
|
|
|
NM_001267550.2(TTN):c.35334G>T (p.Val11778=)
|
rs747444188
|
|
|
NM_001267550.2(TTN):c.35346del (p.Val11783fs)
|
rs2154263836
|
|
|
NM_001267550.2(TTN):c.35358T>A (p.Pro11786=)
|
|
|
|
NM_001267550.2(TTN):c.35367C>T (p.Pro11789=)
|
rs2154263803
|
|
|
NM_001267550.2(TTN):c.35386+170_35397del
|
|
|
|
NM_001267550.2(TTN):c.35386+7G>C
|
rs1483876295
|
|
|
NM_001267550.2(TTN):c.35387-7T>C
|
|
|
|
NM_001267550.2(TTN):c.35387-8C>T
|
|
|
|
NM_001267550.2(TTN):c.35391C>T (p.Pro11797=)
|
|
|
|
NM_001267550.2(TTN):c.35400C>A (p.Pro11800=)
|
rs547896195
|
|
|
NM_001267550.2(TTN):c.35400C>T (p.Pro11800=)
|
|
|
|
NM_001267550.2(TTN):c.35412C>A (p.Val11804=)
|
|
|
|
NM_001267550.2(TTN):c.35412C>T (p.Val11804=)
|
rs2154263451
|
|
|
NM_001267550.2(TTN):c.35415A>C (p.Pro11805=)
|
|
|
|
NM_001267550.2(TTN):c.35421A>G (p.Glu11807=)
|
rs1577187868
|
|
|
NM_001267550.2(TTN):c.35429del (p.Arg11810fs)
|
rs2154263436
|
|
|
NM_001267550.2(TTN):c.35436T>G (p.Ala11812=)
|
rs2154263429
|
|
|
NM_001267550.2(TTN):c.3544A>T (p.Lys1182Ter)
|
rs2092638111
|
|
|
NM_001267550.2(TTN):c.35466T>C (p.Ala11822=)
|
|
|
|
NM_001267550.2(TTN):c.3546G>A (p.Lys1182=)
|
rs1272182819
|
|
|
NM_001267550.2(TTN):c.35470+17A>G
|
|
|
|
NM_001267550.2(TTN):c.35471-17T>C
|
|
|
|
NM_001267550.2(TTN):c.35471-9T>C
|
rs746940707
|
|
|
NM_001267550.2(TTN):c.35475T>G (p.Pro11825=)
|
rs2154263284
|
|
|
NM_001267550.2(TTN):c.35487G>A (p.Lys11829=)
|
rs1577184414
|
|
|
NM_001267550.2(TTN):c.35488_35492del (p.Lys11830fs)
|
rs1370876304
|
|
|
NM_001267550.2(TTN):c.35493T>C (p.Ser11831=)
|
rs1553803616
|
|
|
NM_001267550.2(TTN):c.35502A>G (p.Glu11834=)
|
rs923099588
|
|
|
NM_001267550.2(TTN):c.35511A>T (p.Ser11837=)
|
rs763980218
|
|
|
NM_001267550.2(TTN):c.3553C>T (p.Gln1185Ter)
|
|
|
|
NM_001267550.2(TTN):c.35545+15A>C
|
|
|
|
NM_001267550.2(TTN):c.35545+16T>C
|
|
|
|
NM_001267550.2(TTN):c.35545+1G>A
|
rs2154263213
|
|
|
NM_001267550.2(TTN):c.35546-7T>C
|
|
|
|
NM_001267550.2(TTN):c.35584G>C (p.Val11862Leu)
|
rs1553800435
|
|
|
NM_001267550.2(TTN):c.35602C>T (p.Gln11868Ter)
|
|
|
|
NM_001267550.2(TTN):c.35607G>A (p.Lys11869=)
|
|
|
|
NM_001267550.2(TTN):c.35619A>G (p.Lys11873=)
|
|
|
|
NM_001267550.2(TTN):c.35629+13A>T
|
|
|
|
NM_001267550.2(TTN):c.35629+14A>G
|
|
|
|
NM_001267550.2(TTN):c.35629+20C>T
|
rs2154262064
|
|
|
NM_001267550.2(TTN):c.35629+7A>G
|
rs2154262081
|
|
|
NM_001267550.2(TTN):c.35629+9C>T
|
|
|
|
NM_001267550.2(TTN):c.35630-13_35630-11del
|
|
|
|
NM_001267550.2(TTN):c.35630-15C>T
|
|
|
|
NM_001267550.2(TTN):c.35630-1G>A
|
|
|
|
NM_001267550.2(TTN):c.35630-1G>C
|
rs2154262004
|
|
|
NM_001267550.2(TTN):c.35630-4del
|
rs2154262005
|
|
|
NM_001267550.2(TTN):c.35631G>A (p.Val11877=)
|
rs2154262000
|
|
|
NM_001267550.2(TTN):c.35634T>C (p.Pro11878=)
|
|
|
|
NM_001267550.2(TTN):c.35637G>A (p.Glu11879=)
|
|
|
|
NM_001267550.2(TTN):c.35652T>G (p.Val11884=)
|
rs1577157940
|
|
|
NM_001267550.2(TTN):c.35662G>A (p.Asp11888Asn)
|
rs1356416507
|
|
|
NM_001267550.2(TTN):c.35673T>C (p.Tyr11891=)
|
|
|
|
NM_001267550.2(TTN):c.35675_35676del (p.Val11892fs)
|
rs1440560303
|
|
|
NM_001267550.2(TTN):c.35676_35679dup (p.Ile11894fs)
|
rs2066170360
|
|
|
NM_001267550.2(TTN):c.35679T>G (p.Thr11893=)
|
rs2154261951
|
|
|
NM_001267550.2(TTN):c.35693G>A (p.Arg11898Lys)
|
rs1553799769
|
|
|
NM_001267550.2(TTN):c.35703A>G (p.Pro11901=)
|
|
|
|
NM_001267550.2(TTN):c.35713+12A>T
|
rs2154261914
|
|
|
NM_001267550.2(TTN):c.35713+13T>A
|
|
|
|
NM_001267550.2(TTN):c.35713+13T>C
|
|
|
|
NM_001267550.2(TTN):c.35713+16A>T
|
|
|
|
NM_001267550.2(TTN):c.35713+1G>A
|
rs2066160245
|
|
|
NM_001267550.2(TTN):c.35713+1del
|
|
|
|
NM_001267550.2(TTN):c.35713+2T>A
|
rs774814237
|
|
|
NM_001267550.2(TTN):c.35713+9C>A
|
rs2154261917
|
|
|
NM_001267550.2(TTN):c.35714-14T>C
|
|
|
|
NM_001267550.2(TTN):c.35714-18C>A
|
|
|
|
NM_001267550.2(TTN):c.35714-1G>C
|
rs2154261850
|
|
|
NM_001267550.2(TTN):c.35714-4A>G
|
rs2154261852
|
|
|
NM_001267550.2(TTN):c.35714-9T>C
|
rs748421318
|
|
|
NM_001267550.2(TTN):c.35724A>G (p.Thr11908=)
|
|
|
|
NM_001267550.2(TTN):c.35727C>T (p.Thr11909=)
|
rs1577154607
|
|
|
NM_001267550.2(TTN):c.35739dup (p.Pro11914fs)
|
rs968544783
|
|
|
NM_001267550.2(TTN):c.3573A>G (p.Thr1191=)
|
|
|
|
NM_001267550.2(TTN):c.35756del (p.Pro11919fs)
|
rs1241310204
|
|
|
NM_001267550.2(TTN):c.35797+12T>C
|
|
|
|
NM_001267550.2(TTN):c.35797+14G>A
|
rs201205432
|
|
|
NM_001267550.2(TTN):c.35797+14G>T
|
|
|
|
NM_001267550.2(TTN):c.35797+19G>A
|
|
|
|
NM_001267550.2(TTN):c.35797+20A>G
|
|
|
|
NM_001267550.2(TTN):c.35797+3A>G
|
|
|
|
NM_001267550.2(TTN):c.35797+7T>C
|
|
|
|
NM_001267550.2(TTN):c.35797G>A (p.Glu11933Lys)
|
rs769110483
|
|
|
NM_001267550.2(TTN):c.35798-10A>T
|
rs2154261580
|
|
|
NM_001267550.2(TTN):c.35798-13A>T
|
|
|
|
NM_001267550.2(TTN):c.35798-15C>A
|
|
|
|
NM_001267550.2(TTN):c.35798-18del
|
rs773942530
|
|
|
NM_001267550.2(TTN):c.35798-18dup
|
rs773942530
|
|
|
NM_001267550.2(TTN):c.35808C>G (p.Val11936=)
|
|
|
|
NM_001267550.2(TTN):c.35817A>G (p.Glu11939=)
|
|
|
|
NM_001267550.2(TTN):c.35820C>T (p.Val11940=)
|
rs1577148476
|
|
|
NM_001267550.2(TTN):c.35832A>G (p.Gly11944=)
|
rs2154261540
|
|
|
NM_001267550.2(TTN):c.35841T>A (p.Pro11947=)
|
|
|
|
NM_001267550.2(TTN):c.35844T>A (p.Ile11948=)
|
rs1182927069
|
|
|
NM_001267550.2(TTN):c.35862A>G (p.Thr11954=)
|
|
|
|
NM_001267550.2(TTN):c.35865A>G (p.Pro11955=)
|
|
|
|
NM_001267550.2(TTN):c.35875+11G>A
|
|
|
|
NM_001267550.2(TTN):c.35875+7G>A
|
|
|
|
NM_001267550.2(TTN):c.35876-12A>G
|
rs1298134440
|
|
|
NM_001267550.2(TTN):c.35876-14T>C
|
rs889256993
|
|
|
NM_001267550.2(TTN):c.35876-17C>T
|
rs1011510513
|
|
|
NM_001267550.2(TTN):c.35876-8C>T
|
rs1577134964
|
|
|
NM_001267550.2(TTN):c.35877G>A (p.Val11959=)
|
rs1489614087
|
|
|
NM_001267550.2(TTN):c.3588T>C (p.Phe1196=)
|
|
|
|
NM_001267550.2(TTN):c.35893G>T (p.Glu11965Ter)
|
|
|
|
NM_001267550.2(TTN):c.35897T>G (p.Ile11966Ser)
|
rs1553796799
|
|
|
NM_001267550.2(TTN):c.35904T>C (p.Pro11968=)
|
|
|
|
NM_001267550.2(TTN):c.35939T>C (p.Ile11980Thr)
|
rs927982415
|
|
|
NM_001267550.2(TTN):c.3594A>G (p.Gln1198=)
|
|
|
|
NM_001267550.2(TTN):c.35952C>T (p.Pro11984=)
|
|
|
|
NM_001267550.2(TTN):c.35959+11T>C
|
|
|
|
NM_001267550.2(TTN):c.35959+18A>G
|
rs2154260767
|
|
|
NM_001267550.2(TTN):c.35960-18A>C
|
|
|
|
NM_001267550.2(TTN):c.35960-4A>G
|
|
|
|
NM_001267550.2(TTN):c.35960-6T>C
|
|
|
|
NM_001267550.2(TTN):c.35960-8C>T
|
|
|
|
NM_001267550.2(TTN):c.35972T>C (p.Met11991Thr)
|
rs1553796242
|
|
|
NM_001267550.2(TTN):c.35974A>T (p.Lys11992Ter)
|
|
|
|
NM_001267550.2(TTN):c.36000A>T (p.Ile12000=)
|
|
|
|
NM_001267550.2(TTN):c.36003del (p.Phe12001fs)
|
|
|
|
NM_001267550.2(TTN):c.36030T>G (p.Thr12010=)
|
rs879740984
|
|
|
NM_001267550.2(TTN):c.36035G>A (p.Arg12012His)
|
rs576436744
|
|
|
NM_001267550.2(TTN):c.36043+19A>T
|
|
|
|
NM_001267550.2(TTN):c.36043+7T>C
|
rs2065741084
|
|
|
NM_001267550.2(TTN):c.36044-11T>C
|
rs2154260231
|
|
|
NM_001267550.2(TTN):c.36044-14T>G
|
|
|
|
NM_001267550.2(TTN):c.36044-15C>G
|
|
|
|
NM_001267550.2(TTN):c.36044-18T>C
|
|
|
|
NM_001267550.2(TTN):c.36044-2A>C
|
|
|
|
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg)
|
rs199868380
|
|
|
NM_001267550.2(TTN):c.36072T>C (p.Pro12024=)
|
rs1321454101
|
|
|
NM_001267550.2(TTN):c.36081A>T (p.Thr12027=)
|
rs2154260187
|
|
|
NM_001267550.2(TTN):c.36088del (p.Ser12030fs)
|
|
|
|
NM_001267550.2(TTN):c.36097del (p.Arg12033fs)
|
rs769704822
|
|
|
NM_001267550.2(TTN):c.36118+16C>A
|
|
|
|
NM_001267550.2(TTN):c.36118+3A>G
|
|
|
|
NM_001267550.2(TTN):c.36118+9C>A
|
|
|
|
NM_001267550.2(TTN):c.36119-15A>C
|
|
|
|
NM_001267550.2(TTN):c.36119-1G>C
|
rs1239720687
|
|
|
NM_001267550.2(TTN):c.36119-4A>G
|
rs894776408
|
|
|
NM_001267550.2(TTN):c.36120G>A (p.Val12040=)
|
|
|
|
NM_001267550.2(TTN):c.36135A>G (p.Gln12045=)
|
rs777172309
|
|
|
NM_001267550.2(TTN):c.36159G>C (p.Thr12053=)
|
rs773862719
|
|
|
NM_001267550.2(TTN):c.36174C>A (p.Leu12058=)
|
rs878910324
|
|
|
NM_001267550.2(TTN):c.36198T>C (p.Asp12066=)
|
rs751425228
|
|
|
NM_001267550.2(TTN):c.36202+10G>C
|
rs765321861
|
|
|
NM_001267550.2(TTN):c.36202+12T>C
|
|
|
|
NM_001267550.2(TTN):c.36202+17G>A
|
|
|
|
NM_001267550.2(TTN):c.36202+18C>T
|
|
|
|
NM_001267550.2(TTN):c.36202+1G>A
|
|
|
|
NM_001267550.2(TTN):c.36202+1G>T
|
|
|
|
NM_001267550.2(TTN):c.36202+3A>G
|
|
|
|
NM_001267550.2(TTN):c.36202+8T>C
|
rs2154259998
|
|
|
NM_001267550.2(TTN):c.36203-10A>G
|
rs1577116121
|
|
|
NM_001267550.2(TTN):c.36203-11T>C
|
|
|
|
NM_001267550.2(TTN):c.36203-13A>C
|
|
|
|
NM_001267550.2(TTN):c.36203-15T>C
|
|
|
|
NM_001267550.2(TTN):c.36203-16A>G
|
|
|
|
NM_001267550.2(TTN):c.36203-19A>T
|
|
|
|
NM_001267550.2(TTN):c.36203-1G>T
|
|
|
|
NM_001267550.2(TTN):c.36203-7T>C
|
|
|
|
NM_001267550.2(TTN):c.36227T>C (p.Val12076Ala)
|
rs772990799
|
|
|
NM_001267550.2(TTN):c.36265del (p.Val12089fs)
|
rs2154259826
|
|
|
NM_001267550.2(TTN):c.36267_36280+16del
|
rs745871962
|
|
|
NM_001267550.2(TTN):c.36280+11_36280+19del
|
|
|
|
NM_001267550.2(TTN):c.36280+14del
|
|
|
|
NM_001267550.2(TTN):c.36280+15G>C
|
|
|
|
NM_001267550.2(TTN):c.36280+17C>A
|
|
|
|
NM_001267550.2(TTN):c.36280+19T>G
|
|
|
|
NM_001267550.2(TTN):c.36280+1G>T
|
|
|
|
NM_001267550.2(TTN):c.36280+2T>G
|
|
|
|
NM_001267550.2(TTN):c.36280+3A>G
|
rs2154259799
|
|
|
NM_001267550.2(TTN):c.36280G>A (p.Val12094Met)
|
|
|
|
NM_001267550.2(TTN):c.36280G>C (p.Val12094Leu)
|
|
|
|
NM_001267550.2(TTN):c.36280G>T (p.Val12094Leu)
|
|
|
|
NM_001267550.2(TTN):c.36281-10A>G
|
rs1301425587
|
|
|
NM_001267550.2(TTN):c.36281-10A>T
|
|
|
|
NM_001267550.2(TTN):c.36281-15C>G
|
|
|
|
NM_001267550.2(TTN):c.36281-4C>T
|
rs942066800
|
|
|
NM_001267550.2(TTN):c.36281-8C>T
|
|
|
|
NM_001267550.2(TTN):c.36294C>A (p.Pro12098=)
|
|
|
|
NM_001267550.2(TTN):c.36300G>A (p.Glu12100=)
|
rs1239180284
|
|
|
NM_001267550.2(TTN):c.36306C>T (p.Ile12102=)
|
rs2154259405
|
|
|
NM_001267550.2(TTN):c.3630A>G (p.Val1210=)
|
|
|
|
NM_001267550.2(TTN):c.36321G>A (p.Val12107=)
|
rs1185417313
|
|
|
NM_001267550.2(TTN):c.36324G>C (p.Ser12108=)
|
|
|
|
NM_001267550.2(TTN):c.36336T>A (p.Pro12112=)
|
rs2154259355
|
|
|
NM_001267550.2(TTN):c.36342G>C (p.Lys12114Asn)
|
rs766280406
|
|
|
NM_001267550.2(TTN):c.36360T>G (p.Val12120=)
|
|
|
|
NM_001267550.2(TTN):c.36364+11C>G
|
|
|
|
NM_001267550.2(TTN):c.36364+12T>G
|
|
|
|
NM_001267550.2(TTN):c.36364+15C>G
|
rs1339057661
|
|
|
NM_001267550.2(TTN):c.36364+16T>G
|
|
|
|
NM_001267550.2(TTN):c.36364+19A>G
|
rs747151789
|
|
|
NM_001267550.2(TTN):c.36364+1G>C
|
|
|
|
NM_001267550.2(TTN):c.36364+2T>A
|
|
|
|
NM_001267550.2(TTN):c.36364+4dup
|
rs949125365
|
|
|
NM_001267550.2(TTN):c.36365-17C>A
|
rs1251709245
|
|
|
NM_001267550.2(TTN):c.36365-1G>A
|
rs577672565
|
|
|
NM_001267550.2(TTN):c.36366G>A (p.Val12122=)
|
|
|
|
NM_001267550.2(TTN):c.36375T>C (p.Ala12125=)
|
|
|
|
NM_001267550.2(TTN):c.36378C>T (p.Ser12126=)
|
rs1465995861
|
|
|
NM_001267550.2(TTN):c.3637G>C (p.Glu1213Gln)
|
rs1043395012
|
|
|
NM_001267550.2(TTN):c.36387T>C (p.Val12129=)
|
rs1407977080
|
|
|
NM_001267550.2(TTN):c.36387T>G (p.Val12129=)
|
rs1407977080
|
|
|
NM_001267550.2(TTN):c.36390C>A (p.Ile12130=)
|
rs564173285
|
|
|
NM_001267550.2(TTN):c.36393C>G (p.Arg12131=)
|
rs555029471
|
|
|
NM_001267550.2(TTN):c.36395_36396del (p.Glu12132fs)
|
|
|
|
NM_001267550.2(TTN):c.36417T>G (p.Pro12139=)
|
|
|
|
NM_001267550.2(TTN):c.36420T>G (p.Pro12140=)
|
|
|
|
NM_001267550.2(TTN):c.36448+12T>G
|
|
|
|
NM_001267550.2(TTN):c.36448+4_36532+3del
|
rs2154258800
|
|
|
NM_001267550.2(TTN):c.36448+7G>A
|
rs2154259040
|
|
|
NM_001267550.2(TTN):c.36448+8C>T
|
|
|
|
NM_001267550.2(TTN):c.36448+9C>G
|
rs2154259039
|
|
|
NM_001267550.2(TTN):c.36449-12A>C
|
|
|
|
NM_001267550.2(TTN):c.36449-20T>C
|
|
|
|
NM_001267550.2(TTN):c.36456G>A (p.Glu12152=)
|
|
|
|
NM_001267550.2(TTN):c.36459T>C (p.Pro12153=)
|
|
|
|
NM_001267550.2(TTN):c.3645A>G (p.Glu1215=)
|
|
|
|
NM_001267550.2(TTN):c.36462C>A (p.Pro12154=)
|
rs762026317
|
|
|
NM_001267550.2(TTN):c.36471A>T (p.Val12157=)
|
rs2154258874
|
|
|
NM_001267550.2(TTN):c.36474T>C (p.Val12158=)
|
rs1481466061
|
|
|
NM_001267550.2(TTN):c.36477T>C (p.Pro12159=)
|
rs770559196
|
|
|
NM_001267550.2(TTN):c.36483G>A (p.Lys12161=)
|
rs2154258858
|
|
|
NM_001267550.2(TTN):c.36486A>G (p.Lys12162=)
|
rs1249356656
|
|
|
NM_001267550.2(TTN):c.36489G>T (p.Ala12163=)
|
rs115493456
|
|
|
NM_001267550.2(TTN):c.36504T>C (p.Pro12168=)
|
|
|
|
NM_001267550.2(TTN):c.36507dup (p.Glu12170fs)
|
|
|
|
NM_001267550.2(TTN):c.36532+11C>G
|
rs768495522
|
|
|
NM_001267550.2(TTN):c.36532+13G>C
|
|
|
|
NM_001267550.2(TTN):c.36532+15T>C
|
|
|
|
NM_001267550.2(TTN):c.36532+3A>G
|
|
|
|
NM_001267550.2(TTN):c.36532+4dup
|
rs1577094147
|
|
|
NM_001267550.2(TTN):c.36532+5_36532+6dup
|
rs1577094147
|
|
|
NM_001267550.2(TTN):c.36532+7G>C
|
|
|
|
NM_001267550.2(TTN):c.36532+8T>C
|
|
|
|
NM_001267550.2(TTN):c.36533-16_36533-15delinsCT
|
rs2154258704
|
|
|
NM_001267550.2(TTN):c.36533-1G>A
|
|
|
|
NM_001267550.2(TTN):c.36533-5T>G
|
|
|
|
NM_001267550.2(TTN):c.36533-9T>A
|
|
|
|
NM_001267550.2(TTN):c.3654T>C (p.Tyr1218=)
|
rs2092628894
|
|
|
NM_001267550.2(TTN):c.36555T>A (p.Val12185=)
|
rs2065152509
|
|
|
NM_001267550.2(TTN):c.365del (p.Arg122fs)
|
rs2154359059
|
|
|
NM_001267550.2(TTN):c.36616+7A>G
|
|
|
|
NM_001267550.2(TTN):c.36616+8C>A
|
rs2065137036
|
|
|
NM_001267550.2(TTN):c.36618C>T (p.Val12206=)
|
rs777734136
|
|
|
NM_001267550.2(TTN):c.36627G>T (p.Val12209=)
|
rs2065116413
|
|
|
NM_001267550.2(TTN):c.36645A>T (p.Pro12215=)
|
rs2154258534
|
|
|
NM_001267550.2(TTN):c.3664C>T (p.Gln1222Ter)
|
rs1227198694
|
|
|
NM_001267550.2(TTN):c.36685A>G (p.Ser12229Gly)
|
rs1060500531
|
|
|
NM_001267550.2(TTN):c.36696del (p.Glu12233fs)
|
rs1060500458
|
|
|
NM_001267550.2(TTN):c.36701-6T>G
|
rs1060500422
|
|
|
NM_001267550.2(TTN):c.36701-9T>G
|
rs1060500427
|
|
|
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp)
|
rs796478043
|
|
|
NM_001267550.2(TTN):c.36720G>A (p.Pro12240=)
|
rs2065045773
|
|
|
NM_001267550.2(TTN):c.36753G>A (p.Val12251=)
|
rs1553788597
|
|
|
NM_001267550.2(TTN):c.36759T>C (p.Pro12253=)
|
rs2154258276
|
|
|
NM_001267550.2(TTN):c.36771A>G (p.Pro12257=)
|
rs2065039450
|
|
|
NM_001267550.2(TTN):c.36777T>C (p.Ala12259=)
|
|
|
|
NM_001267550.2(TTN):c.36821_36822insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATGCNNAAAAAAAAAAAAAAAAAAAA (p.Glu12274_Lys12275insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.36874+4dup
|
rs2154258027
|
|
|
NM_001267550.2(TTN):c.36874+8T>C
|
rs1577079340
|
|
|
NM_001267550.2(TTN):c.36875-10A>G
|
rs2154257951
|
|
|
NM_001267550.2(TTN):c.36879T>A (p.Pro12293=)
|
rs2154257946
|
|
|
NM_001267550.2(TTN):c.36958+9C>T
|
rs1060503964
|
|
|
NM_001267550.2(TTN):c.3696T>C (p.Asp1232=)
|
|
|
|
NM_001267550.2(TTN):c.36981C>A (p.Ala12327=)
|
rs2154257845
|
|
|
NM_001267550.2(TTN):c.36982A>G (p.Thr12328Ala)
|
rs146313925
|
|
|
NM_001267550.2(TTN):c.3699T>G (p.Thr1233=)
|
rs759703962
|
|
|
NM_001267550.2(TTN):c.37005T>A (p.Ala12335=)
|
rs1300033485
|
|
|
NM_001267550.2(TTN):c.37005T>C (p.Ala12335=)
|
rs1300033485
|
|
|
NM_001267550.2(TTN):c.3701T>C (p.Val1234Ala)
|
rs1060500401
|
|
|
NM_001267550.2(TTN):c.37029A>G (p.Pro12343=)
|
rs200163049
|
|
|
NM_001267550.2(TTN):c.37029A>T (p.Pro12343=)
|
rs200163049
|
|
|
NM_001267550.2(TTN):c.3702A>G (p.Val1234=)
|
rs1472830831
|
|
|
NM_001267550.2(TTN):c.37083G>A (p.Lys12361=)
|
rs1271000954
|
|
|
NM_001267550.2(TTN):c.37107C>T (p.Ala12369=)
|
rs2154257701
|
|
|
NM_001267550.2(TTN):c.37149A>G (p.Pro12383=)
|
rs2064835879
|
|
|
NM_001267550.2(TTN):c.3717T>C (p.Tyr1239=)
|
|
|
|
NM_001267550.2(TTN):c.3717T>G (p.Tyr1239Ter)
|
|
|
|
NM_001267550.2(TTN):c.37222G>A (p.Val12408Ile)
|
rs1553786445
|
|
|
NM_001267550.2(TTN):c.37227C>T (p.Val12409=)
|
rs1577071120
|
|
|
NM_001267550.2(TTN):c.37239A>G (p.Lys12413=)
|
rs2154257210
|
|
|
NM_001267550.2(TTN):c.37248G>C (p.Ser12416=)
|
rs201654513
|
|
|
NM_001267550.2(TTN):c.37286-9T>C
|
rs1477650067
|
|
|
NM_001267550.2(TTN):c.3729+13G>A
|
|
|
|
NM_001267550.2(TTN):c.3729+15A>C
|
|
|
|
NM_001267550.2(TTN):c.3729+1G>A
|
rs781562337
|
|
|
NM_001267550.2(TTN):c.3729+3G>A
|
|
|
|
NM_001267550.2(TTN):c.3730-17A>G
|
rs1201217068
|
|
|
NM_001267550.2(TTN):c.3730-19C>A
|
|
|
|
NM_001267550.2(TTN):c.3730-5C>T
|
rs1574709001
|
|
|
NM_001267550.2(TTN):c.3730-6G>A
|
|
|
|
NM_001267550.2(TTN):c.3730-6G>C
|
rs1018613188
|
|
|
NM_001267550.2(TTN):c.37326G>A (p.Val12442=)
|
rs2154255117
|
|
|
NM_001267550.2(TTN):c.37329A>C (p.Pro12443=)
|
rs794727159
|
|
|
NM_001267550.2(TTN):c.37365A>G (p.Thr12455=)
|
rs2154255090
|
|
|
NM_001267550.2(TTN):c.3736C>A (p.His1246Asn)
|
rs1554012975
|
|
|
NM_001267550.2(TTN):c.37373C>T (p.Pro12458Leu)
|
rs1553782191
|
|
|
NM_001267550.2(TTN):c.37374A>C (p.Pro12458=)
|
rs1560154460
|
|
|
NM_001267550.2(TTN):c.3738T>C (p.His1246=)
|
|
|
|
NM_001267550.2(TTN):c.37397C>T (p.Pro12466Leu)
|
rs727503632
|
|
|
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr)
|
rs72650057
|
|
|
NM_001267550.2(TTN):c.37443T>A (p.Pro12481=)
|
rs2064247741
|
|
|
NM_001267550.2(TTN):c.37447C>G (p.Pro12483Ala)
|
rs1060500552
|
|
|
NM_001267550.2(TTN):c.37453+10A>G
|
rs1260753500
|
|
|
NM_001267550.2(TTN):c.37454-4G>A
|
rs2154254746
|
|
|
NM_001267550.2(TTN):c.37458T>C (p.Pro12486=)
|
rs2154254741
|
|
|
NM_001267550.2(TTN):c.37461A>G (p.Glu12487=)
|
rs200021871
|
|
|
NM_001267550.2(TTN):c.37470A>G (p.Pro12490=)
|
rs371171326
|
|
|
NM_001267550.2(TTN):c.37473G>C (p.Pro12491=)
|
rs556414069
|
|
|
NM_001267550.2(TTN):c.37477G>A (p.Glu12493Lys)
|
rs1426948805
|
|
|
NM_001267550.2(TTN):c.37489G>A (p.Glu12497Lys)
|
rs1553781387
|
|
|
NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu)
|
rs1236045684
|
|
|
NM_001267550.2(TTN):c.37503G>T (p.Pro12501=)
|
rs1199981167
|
|
|
NM_001267550.2(TTN):c.37506G>T (p.Val12502=)
|
rs2154254704
|
|
|
NM_001267550.2(TTN):c.37515C>T (p.Ala12505=)
|
rs1577045070
|
|
|
NM_001267550.2(TTN):c.37543+7A>G
|
rs2154254691
|
|
|
NM_001267550.2(TTN):c.37566T>C (p.Val12522=)
|
rs2154254578
|
|
|
NM_001267550.2(TTN):c.37576A>T (p.Lys12526Ter)
|
rs1560149950
|
|
|
NM_001267550.2(TTN):c.37593T>C (p.Ala12531=)
|
rs1241082931
|
|
|
NM_001267550.2(TTN):c.37616_37627+12del
|
rs1560149416
|
|
|
NM_001267550.2(TTN):c.37628-4C>A
|
rs1408761046
|
|
|
NM_001267550.2(TTN):c.37629G>C (p.Val12543=)
|
rs2154254453
|
|
|
NM_001267550.2(TTN):c.3762T>C (p.Leu1254=)
|
|
|
|
NM_001267550.2(TTN):c.37651G>A (p.Val12551Ile)
|
rs1437747405
|
|
|
NM_001267550.2(TTN):c.37671C>T (p.Pro12557=)
|
rs2064096973
|
|
|
NM_001267550.2(TTN):c.37683C>A (p.Ile12561=)
|
rs1553780447
|
|
|
NM_001267550.2(TTN):c.37701C>G (p.Pro12567=)
|
rs1577039584
|
|
|
NM_001267550.2(TTN):c.37701C>T (p.Pro12567=)
|
rs1577039584
|
|
|
NM_001267550.2(TTN):c.37702G>A (p.Ala12568Thr)
|
rs1060500468
|
|
|
NM_001267550.2(TTN):c.37707T>A (p.Val12569=)
|
rs2154254397
|
|
|
NM_001267550.2(TTN):c.37711G>A (p.Val12571Met)
|
rs1577039412
|
|
|
NM_001267550.2(TTN):c.37716A>G (p.Pro12572=)
|
rs2154254322
|
|
|
NM_001267550.2(TTN):c.37737A>G (p.Ala12579=)
|
rs2064060495
|
|
|
NM_001267550.2(TTN):c.37779T>G (p.Ala12593=)
|
|
|
|
NM_001267550.2(TTN):c.37782G>A (p.Pro12594=)
|
rs58496397
|
|
|
NM_001267550.2(TTN):c.37788C>T (p.Val12596=)
|
rs1060503943
|
|
|
NM_001267550.2(TTN):c.37793-12_37793-10del
|
rs770966939
|
|
|
NM_001267550.2(TTN):c.37797T>C (p.Pro12599=)
|
rs2154254164
|
|
|
NM_001267550.2(TTN):c.3780T>C (p.Tyr1260=)
|
rs956832626
|
|
|
NM_001267550.2(TTN):c.37848A>G (p.Thr12616=)
|
rs1577034894
|
|
|
NM_001267550.2(TTN):c.37884C>T (p.Val12628=)
|
rs2154254036
|
|
|
NM_001267550.2(TTN):c.37903G>C (p.Glu12635Gln)
|
rs749935074
|
|
|
NM_001267550.2(TTN):c.37920G>A (p.Val12640=)
|
rs2063983841
|
|
|
NM_001267550.2(TTN):c.37949T>C (p.Val12650Ala)
|
rs1553779318
|
|
|
NM_001267550.2(TTN):c.37980C>A (p.Val12660=)
|
rs1233379856
|
|
|
NM_001267550.2(TTN):c.37989G>A (p.Lys12663=)
|
rs2154253886
|
|
|
NM_001267550.2(TTN):c.37996C>A (p.Pro12666Thr)
|
rs201684070
|
|
|
NM_001267550.2(TTN):c.37998C>A (p.Pro12666=)
|
rs1351851990
|
|
|
NM_001267550.2(TTN):c.38000C>A (p.Ser12667Ter)
|
rs572641259
|
|
|
NM_001267550.2(TTN):c.38010T>A (p.Pro12670=)
|
rs753763644
|
|
|
NM_001267550.2(TTN):c.38016G>A (p.Lys12672=)
|
rs764034537
|
|
|
NM_001267550.2(TTN):c.38031T>C (p.Pro12677=)
|
rs1060503972
|
|
|
NM_001267550.2(TTN):c.38085G>A (p.Val12695=)
|
rs1224748066
|
|
|
NM_001267550.2(TTN):c.38088T>G (p.Pro12696=)
|
rs1553777636
|
|
|
NM_001267550.2(TTN):c.38101C>T (p.Pro12701Ser)
|
rs1284117197
|
|
|
NM_001267550.2(TTN):c.38118A>G (p.Thr12706=)
|
rs1253206905
|
|
|
NM_001267550.2(TTN):c.38122+9C>G
|
rs942295759
|
|
|
NM_001267550.2(TTN):c.38122+9C>T
|
rs942295759
|
|
|
NM_001267550.2(TTN):c.38123-4A>C
|
rs2154252983
|
|
|
NM_001267550.2(TTN):c.3813T>G (p.Leu1271=)
|
|
|
|
NM_001267550.2(TTN):c.38147T>A (p.Val12716Asp)
|
rs1553777417
|
|
|
NM_001267550.2(TTN):c.3817G>T (p.Glu1273Ter)
|
rs2154347744
|
|
|
NM_001267550.2(TTN):c.38206+6_39295+5del
|
|
|
|
NM_001267550.2(TTN):c.38226G>A (p.Pro12742=)
|
rs965565085
|
|
|
NM_001267550.2(TTN):c.38226G>T (p.Pro12742=)
|
rs965565085
|
|
|
NM_001267550.2(TTN):c.3822T>C (p.Asp1274=)
|
rs762080939
|
|
|
NM_001267550.2(TTN):c.38230G>A (p.Glu12744Lys)
|
rs1553777033
|
|
|
NM_001267550.2(TTN):c.38249A>C (p.Lys12750Thr)
|
rs1337231554
|
|
|
NM_001267550.2(TTN):c.3829G>T (p.Glu1277Ter)
|
|
|
|
NM_001267550.2(TTN):c.3831_3835del (p.Glu1277fs)
|
rs1060500558
|
|
|
NM_001267550.2(TTN):c.38326G>T (p.Glu12776Ter)
|
rs2063658613
|
|
|
NM_001267550.2(TTN):c.38364A>G (p.Glu12788=)
|
rs2154252548
|
|
|
NM_001267550.2(TTN):c.38380+10C>A
|
rs200802296
|
|
|
NM_001267550.2(TTN):c.3838del (p.Ala1280fs)
|
|
|
|
NM_001267550.2(TTN):c.38424C>T (p.Pro12808=)
|
rs1419379943
|
|
|
NM_001267550.2(TTN):c.38424del (p.Lys12809fs)
|
rs1553775991
|
|
|
NM_001267550.2(TTN):c.38445A>G (p.Pro12815=)
|
rs2154252340
|
|
|
NM_001267550.2(TTN):c.38464+8T>C
|
rs2154252302
|
|
|
NM_001267550.2(TTN):c.38465-8C>A
|
rs937031915
|
|
|
NM_001267550.2(TTN):c.38475T>C (p.Val12825=)
|
rs1390573790
|
|
|
NM_001267550.2(TTN):c.38478T>C (p.Pro12826=)
|
rs1271252825
|
|
|
NM_001267550.2(TTN):c.38519A>G (p.Lys12840Arg)
|
rs1250144035
|
|
|
NM_001267550.2(TTN):c.38546-2del
|
rs1486772794
|
|
|
NM_001267550.2(TTN):c.3854A>T (p.Glu1285Val)
|
rs1554012705
|
|
|
NM_001267550.2(TTN):c.38598C>T (p.Pro12866=)
|
rs1553775431
|
|
|
NM_001267550.2(TTN):c.38626+4dup
|
rs1260372587
|
|
|
NM_001267550.2(TTN):c.38627-14T>C
|
|
|
|
NM_001267550.2(TTN):c.38627-18del
|
|
|
|
NM_001267550.2(TTN):c.38627-8C>A
|
|
|
|
NM_001267550.2(TTN):c.3864T>C (p.Ala1288=)
|
|
|
|
NM_001267550.2(TTN):c.3864del (p.Val1289fs)
|
rs2154347714
|
|
|
NM_001267550.2(TTN):c.38660del (p.Lys12887fs)
|
rs761617432
|
|
|
NM_001267550.2(TTN):c.38697A>C (p.Pro12899=)
|
|
|
|
NM_001267550.2(TTN):c.38703T>G (p.Val12901=)
|
rs1027852214
|
|
|
NM_001267550.2(TTN):c.38707+7G>T
|
rs752801232
|
|
|
NM_001267550.2(TTN):c.38708-10A>G
|
|
|
|
NM_001267550.2(TTN):c.38708-15_38723del
|
|
|
|
NM_001267550.2(TTN):c.38708-19T>G
|
|
|
|
NM_001267550.2(TTN):c.38708-2A>C
|
|
|
|
NM_001267550.2(TTN):c.38708-4T>C
|
rs200819643
|
|
|
NM_001267550.2(TTN):c.38712A>G (p.Pro12904=)
|
rs2154251772
|
|
|
NM_001267550.2(TTN):c.38721C>T (p.Pro12907=)
|
|
|
|
NM_001267550.2(TTN):c.38723AAG[1] (p.Glu12909del)
|
rs1060500390
|
|
|
NM_001267550.2(TTN):c.3873A>T (p.Ser1291=)
|
rs2154347704
|
|
|
NM_001267550.2(TTN):c.38751C>A (p.Pro12917=)
|
|
|
|
NM_001267550.2(TTN):c.38769G>A (p.Lys12923=)
|
|
|
|
NM_001267550.2(TTN):c.38772T>C (p.Pro12924=)
|
|
|
|
NM_001267550.2(TTN):c.38783C>G (p.Pro12928Arg)
|
rs752337495
|
|
|
NM_001267550.2(TTN):c.38791+14A>G
|
|
|
|
NM_001267550.2(TTN):c.38791+15C>T
|
|
|
|
NM_001267550.2(TTN):c.38791+16C>T
|
|
|
|
NM_001267550.2(TTN):c.38791+19A>G
|
|
|
|
NM_001267550.2(TTN):c.38791+1G>C
|
|
|
|
NM_001267550.2(TTN):c.38792-15C>T
|
|
|
|
NM_001267550.2(TTN):c.38792-1_38792insA
|
|
|
|
NM_001267550.2(TTN):c.38796A>T (p.Pro12932=)
|
rs2154251521
|
|
|
NM_001267550.2(TTN):c.38814T>C (p.Val12938=)
|
rs2063395211
|
|
|
NM_001267550.2(TTN):c.38832G>T (p.Val12944=)
|
|
|
|
NM_001267550.2(TTN):c.38835A>G (p.Pro12945=)
|
|
|
|
NM_001267550.2(TTN):c.38875+14G>C
|
|
|
|
NM_001267550.2(TTN):c.38875+7G>A
|
|
|
|
NM_001267550.2(TTN):c.38875G>T (p.Val12959Leu)
|
|
|
|
NM_001267550.2(TTN):c.38876-10A>G
|
|
|
|
NM_001267550.2(TTN):c.38876-12A>T
|
rs770366737
|
|
|
NM_001267550.2(TTN):c.38876-15C>T
|
|
|
|
NM_001267550.2(TTN):c.38876-17C>T
|
|
|
|
NM_001267550.2(TTN):c.38876-18T>G
|
|
|
|
NM_001267550.2(TTN):c.38876-2A>T
|
|
|
|
NM_001267550.2(TTN):c.38876-8C>T
|
rs1060503949
|
|
|
NM_001267550.2(TTN):c.38876-9T>C
|
rs2154251321
|
|
|
NM_001267550.2(TTN):c.38879_38880inv (p.Pro12960Leu)
|
|
|
|
NM_001267550.2(TTN):c.38880A>C (p.Pro12960=)
|
rs2742354
|
|
|
NM_001267550.2(TTN):c.38883G>A (p.Glu12961=)
|
|
|
|
NM_001267550.2(TTN):c.38895G>A (p.Glu12965=)
|
|
|
|
NM_001267550.2(TTN):c.38901T>C (p.Val12967=)
|
|
|
|
NM_001267550.2(TTN):c.38907A>G (p.Glu12969=)
|
|
|
|
NM_001267550.2(TTN):c.38915T>C (p.Met12972Thr)
|
rs1060500540
|
|
|
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser)
|
rs150223722
|
|
|
NM_001267550.2(TTN):c.38949T>A (p.Pro12983=)
|
rs979855817
|
|
|
NM_001267550.2(TTN):c.38952T>C (p.Pro12984=)
|
rs2154251202
|
|
|
NM_001267550.2(TTN):c.38955T>G (p.Val12985=)
|
rs375699886
|
|
|
NM_001267550.2(TTN):c.38959+13G>A
|
|
|
|
NM_001267550.2(TTN):c.38959+14G>A
|
|
|
|
NM_001267550.2(TTN):c.38959+7G>A
|
rs1343265015
|
|
|
NM_001267550.2(TTN):c.38959+9C>T
|
|
|
|
NM_001267550.2(TTN):c.38960-10A>C
|
|
|
|
NM_001267550.2(TTN):c.38960-16A>C
|
|
|
|
NM_001267550.2(TTN):c.38960-16A>T
|
|
|
|
NM_001267550.2(TTN):c.38960-17C>A
|
|
|
|
NM_001267550.2(TTN):c.38960-17C>T
|
|
|
|
NM_001267550.2(TTN):c.38960-20T>C
|
|
|
|
NM_001267550.2(TTN):c.38964A>T (p.Pro12988=)
|
rs776672344
|
|
|
NM_001267550.2(TTN):c.38997A>G (p.Lys12999=)
|
|
|
|
NM_001267550.2(TTN):c.39003C>T (p.Pro13001=)
|
rs756578823
|
|
|
NM_001267550.2(TTN):c.39006G>T (p.Ser13002=)
|
rs548745743
|
|
|
NM_001267550.2(TTN):c.39015T>C (p.Pro13005=)
|
|
|
|
NM_001267550.2(TTN):c.39020A>C (p.Lys13007Thr)
|
rs532069408
|
|
|
NM_001267550.2(TTN):c.39043+10A>G
|
|
|
|
NM_001267550.2(TTN):c.39043+11T>C
|
|
|
|
NM_001267550.2(TTN):c.39043+4T>C
|
rs2063256186
|
|
|
NM_001267550.2(TTN):c.39043+9C>T
|
|
|
|
NM_001267550.2(TTN):c.39044-16A>C
|
|
|
|
NM_001267550.2(TTN):c.39048A>T (p.Pro13016=)
|
rs747591613
|
|
|
NM_001267550.2(TTN):c.39056C>A (p.Pro13019Gln)
|
rs763845436
|
|
|
NM_001267550.2(TTN):c.39057G>C (p.Pro13019=)
|
rs371945519
|
|
|
NM_001267550.2(TTN):c.39058_39141del84 (p.Ala13030_Pro13057del)
|
|
|
|
NM_001267550.2(TTN):c.39059AAG[1] (p.Glu13021del)
|
rs1298186498
|
|
|
NM_001267550.2(TTN):c.39063A>G (p.Glu13021=)
|
|
|
|
NM_001267550.2(TTN):c.39066T>G (p.Val13022=)
|
rs759383677
|
|
|
NM_001267550.2(TTN):c.39093T>C (p.Ala13031=)
|
|
|
|
NM_001267550.2(TTN):c.39096T>C (p.Pro13032=)
|
|
|
|
NM_001267550.2(TTN):c.39127+11C>T
|
|
|
|
NM_001267550.2(TTN):c.39127+3A>T
|
rs2154250699
|
|
|
NM_001267550.2(TTN):c.39128-10A>C
|
|
|
|
NM_001267550.2(TTN):c.39128-17C>T
|
rs2154250612
|
|
|
NM_001267550.2(TTN):c.39128-4C>T
|
|
|
|
NM_001267550.2(TTN):c.39128-7T>C
|
|
|
|
NM_001267550.2(TTN):c.39128-7T>G
|
|
|
|
NM_001267550.2(TTN):c.39132T>A (p.Pro13044=)
|
|
|
|
NM_001267550.2(TTN):c.39141C>G (p.Pro13047=)
|
|
|
|
NM_001267550.2(TTN):c.39144A>G (p.Lys13048=)
|
rs1576971041
|
|
|
NM_001267550.2(TTN):c.39147A>G (p.Glu13049=)
|
|
|
|
NM_001267550.2(TTN):c.39153T>C (p.Val13051=)
|
rs2154250557
|
|
|
NM_001267550.2(TTN):c.39163_39166del (p.Lys13055fs)
|
rs2063155917
|
|
|
NM_001267550.2(TTN):c.39201_39203dup (p.Pro13068dup)
|
rs748388695
|
|
|
NM_001267550.2(TTN):c.39204del (p.Thr13069fs)
|
rs1560106851
|
|
|
NM_001267550.2(TTN):c.39210del (p.Val13071fs)
|
rs2154250499
|
|
|
NM_001267550.2(TTN):c.39211+10C>T
|
rs1264648666
|
|
|
NM_001267550.2(TTN):c.39211+12C>G
|
|
|
|
NM_001267550.2(TTN):c.39211+15G>A
|
rs2154250485
|
|
|
NM_001267550.2(TTN):c.39211+18G>A
|
rs1312765979
|
|
|
NM_001267550.2(TTN):c.39211+8C>G
|
rs778828307
|
|
|
NM_001267550.2(TTN):c.39211+9C>T
|
rs2154250496
|
|
|
NM_001267550.2(TTN):c.39211G>T (p.Val13071Phe)
|
rs1334646153
|
|
|
NM_001267550.2(TTN):c.39212-15T>C
|
|
|
|
NM_001267550.2(TTN):c.39212-16A>C
|
|
|
|
NM_001267550.2(TTN):c.39212-19ATA[2]
|
rs747377960
|
|
|
NM_001267550.2(TTN):c.39212-1G>A
|
|
|
|
NM_001267550.2(TTN):c.39212-8T>C
|
|
|
|
NM_001267550.2(TTN):c.39212-9C>A
|
rs373056460
|
|
|
NM_001267550.2(TTN):c.39212-9C>T
|
|
|
|
NM_001267550.2(TTN):c.39213C>T (p.Val13071=)
|
rs2063116864
|
|
|
NM_001267550.2(TTN):c.39237C>A (p.Val13079=)
|
rs1044693629
|
|
|
NM_001267550.2(TTN):c.39240A>G (p.Pro13080=)
|
|
|
|
NM_001267550.2(TTN):c.39240A>T (p.Pro13080=)
|
|
|
|
NM_001267550.2(TTN):c.39251del (p.Val13084fs)
|
|
|
|
NM_001267550.2(TTN):c.39255T>C (p.Pro13085=)
|
rs573657954
|
|
|
NM_001267550.2(TTN):c.39258A>G (p.Glu13086=)
|
|
|
|
NM_001267550.2(TTN):c.3927T>G (p.Thr1309=)
|
|
|
|
NM_001267550.2(TTN):c.39289C>A (p.Pro13097Thr)
|
rs370157162
|
|
|
NM_001267550.2(TTN):c.39295+13C>G
|
|
|
|
NM_001267550.2(TTN):c.39295+13C>T
|
|
|
|
NM_001267550.2(TTN):c.39295+19A>G
|
|
|
|
NM_001267550.2(TTN):c.39295+1G>C
|
|
|
|
NM_001267550.2(TTN):c.39295+8T>A
|
|
|
|
NM_001267550.2(TTN):c.39295+9_39295+14del
|
|
|
|
NM_001267550.2(TTN):c.39296-15C>G
|
|
|
|
NM_001267550.2(TTN):c.39296-15C>T
|
|
|
|
NM_001267550.2(TTN):c.39296-19T>A
|
rs1472270809
|
|
|
NM_001267550.2(TTN):c.39296-5T>C
|
rs2154250231
|
|
|
NM_001267550.2(TTN):c.39313G>T (p.Glu13105Ter)
|
|
|
|
NM_001267550.2(TTN):c.39330G>A (p.Glu13110=)
|
rs2063060667
|
|
|
NM_001267550.2(TTN):c.39333T>C (p.Pro13111=)
|
rs1013606405
|
|
|
NM_001267550.2(TTN):c.39355C>T (p.Pro13119Ser)
|
rs2063054787
|
|
|
NM_001267550.2(TTN):c.39366G>A (p.Ala13122=)
|
rs769494020
|
|
|
NM_001267550.2(TTN):c.39369G>A (p.Ala13123=)
|
rs768499213
|
|
|
NM_001267550.2(TTN):c.39374_39376del (p.Pro13125del)
|
rs1292233616
|
|
|
NM_001267550.2(TTN):c.39375A>C (p.Pro13125=)
|
rs566794300
|
|
|
NM_001267550.2(TTN):c.39379+11A>G
|
|
|
|
NM_001267550.2(TTN):c.39379+19G>A
|
|
|
|
NM_001267550.2(TTN):c.39379+19G>C
|
|
|
|
NM_001267550.2(TTN):c.39379+19G>T
|
|
|
|
NM_001267550.2(TTN):c.39379+20C>T
|
|
|
|
NM_001267550.2(TTN):c.39379+8G>A
|
rs1272590741
|
|
|
NM_001267550.2(TTN):c.39380-19A>G
|
|
|
|
NM_001267550.2(TTN):c.39380-1G>C
|
rs2063018968
|
|
|
NM_001267550.2(TTN):c.39380-20C>T
|
|
|
|
NM_001267550.2(TTN):c.39380-7T>A
|
|
|
|
NM_001267550.2(TTN):c.39381G>A (p.Val13127=)
|
rs2154250034
|
|
|
NM_001267550.2(TTN):c.39396G>A (p.Lys13132=)
|
rs1553770142
|
|
|
NM_001267550.2(TTN):c.39399A>G (p.Lys13133=)
|
|
|
|
NM_001267550.2(TTN):c.3939G>A (p.Lys1313=)
|
rs2154347674
|
|
|
NM_001267550.2(TTN):c.39407C>T (p.Pro13136Leu)
|
rs1060500460
|
|
|
NM_001267550.2(TTN):c.39408A>G (p.Pro13136=)
|
|
|
|
NM_001267550.2(TTN):c.39429C>T (p.Val13143=)
|
rs2154249992
|
|
|
NM_001267550.2(TTN):c.39456A>G (p.Pro13152=)
|
|
|
|
NM_001267550.2(TTN):c.3945T>A (p.Ser1315=)
|
|
|
|
NM_001267550.2(TTN):c.39463+11C>T
|
rs767146567
|
|
|
NM_001267550.2(TTN):c.39463+12T>C
|
|
|
|
NM_001267550.2(TTN):c.39463+14C>T
|
|
|
|
NM_001267550.2(TTN):c.39463+16A>G
|
rs1553769902
|
|
|
NM_001267550.2(TTN):c.39463+19_39463+22del
|
rs1244841627
|
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|
NM_001267550.2(TTN):c.39463+1G>C
|
rs1553770003
|
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|
NM_001267550.2(TTN):c.39463+2T>C
|
rs1576956162
|
|
|
NM_001267550.2(TTN):c.39464-10T>A
|
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|
NM_001267550.2(TTN):c.39464-12T>C
|
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|
NM_001267550.2(TTN):c.39464-13A>C
|
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|
NM_001267550.2(TTN):c.39464-13_39464-11del
|
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|
NM_001267550.2(TTN):c.39464-17A>G
|
rs1259394761
|
|
|
NM_001267550.2(TTN):c.39464-4A>C
|
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|
|
NM_001267550.2(TTN):c.39464-5T>A
|
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|
NM_001267550.2(TTN):c.39464-5T>C
|
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|
NM_001267550.2(TTN):c.39464-7T>C
|
rs1218973879
|
|
|
NM_001267550.2(TTN):c.39465G>T (p.Val13155=)
|
|
|
|
NM_001267550.2(TTN):c.3948A>C (p.Gly1316=)
|
rs2154347668
|
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|
NM_001267550.2(TTN):c.39511G>A (p.Val13171Met)
|
rs780550944
|
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|
NM_001267550.2(TTN):c.39511del (p.Val13171fs)
|
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|
|
NM_001267550.2(TTN):c.39525G>C (p.Lys13175Asn)
|
rs1060500515
|
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|
NM_001267550.2(TTN):c.39531A>G (p.Glu13177=)
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|
NM_001267550.2(TTN):c.39539del (p.Pro13180fs)
|
rs2062944024
|
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NM_001267550.2(TTN):c.39546del (p.Val13183fs)
|
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NM_001267550.2(TTN):c.39547+11C>T
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|
NM_001267550.2(TTN):c.39547+15C>T
|
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|
NM_001267550.2(TTN):c.39547+3A>G
|
rs878854370
|
|
|
NM_001267550.2(TTN):c.39547+4T>C
|
rs754899622
|
|
|
NM_001267550.2(TTN):c.39547G>C (p.Val13183Leu)
|
rs2154249791
|
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|
NM_001267550.2(TTN):c.39548-11T>C
|
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|
NM_001267550.2(TTN):c.39563AAG[1] (p.Glu13189del)
|
rs1553769206
|
|
|
NM_001267550.2(TTN):c.39580A>T (p.Lys13194Ter)
|
rs2154249634
|
|
|
NM_001267550.2(TTN):c.39591T>C (p.Ala13197=)
|
rs2154249622
|
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|
NM_001267550.2(TTN):c.39618A>C (p.Pro13206=)
|
rs2154249604
|
|
|
NM_001267550.2(TTN):c.39625+11C>T
|
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|
NM_001267550.2(TTN):c.39625+1G>C
|
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|
NM_001267550.2(TTN):c.39625+2T>C
|
rs774766702
|
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|
NM_001267550.2(TTN):c.39626-13A>T
|
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NM_001267550.2(TTN):c.39626-15T>C
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NM_001267550.2(TTN):c.3963+10A>G
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NM_001267550.2(TTN):c.3963+1G>T
|
rs1561325112
|
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NM_001267550.2(TTN):c.3963+3A>G
|
rs2092547968
|
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NM_001267550.2(TTN):c.3963+9T>C
|
rs1554012412
|
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NM_001267550.2(TTN):c.39630A>G (p.Pro13210=)
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NM_001267550.2(TTN):c.3964-4G>T
|
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NM_001267550.2(TTN):c.3964-6T>C
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NM_001267550.2(TTN):c.3964-9T>C
|
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NM_001267550.2(TTN):c.39652T>C (p.Leu13218=)
|
rs727505145
|
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NM_001267550.2(TTN):c.39654G>A (p.Leu13218=)
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NM_001267550.2(TTN):c.39663A>G (p.Lys13221=)
|
rs1576940974
|
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|
NM_001267550.2(TTN):c.39669T>C (p.Ala13223=)
|
rs2154249242
|
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NM_001267550.2(TTN):c.396A>T (p.Thr132=)
|
rs1574991773
|
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|
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg)
|
rs72650066
|
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NM_001267550.2(TTN):c.39709+1G>A
|
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NM_001267550.2(TTN):c.39709+4C>T
|
rs1553768226
|
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NM_001267550.2(TTN):c.39711A>G (p.Val13237=)
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NM_001267550.2(TTN):c.39727G>T (p.Glu13243Ter)
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NM_001267550.2(TTN):c.3972G>A (p.Trp1324Ter)
|
rs1561323791
|
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NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1])
|
rs139512154
|
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|
NM_001267550.2(TTN):c.39743A>T (p.Glu13248Val)
|
rs1224909860
|
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|
NM_001267550.2(TTN):c.3975C>T (p.Tyr1325=)
|
rs775341456
|
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|
NM_001267550.2(TTN):c.39771A>G (p.Pro13257=)
|
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|
|
NM_001267550.2(TTN):c.39774T>C (p.Val13258=)
|
rs2154248597
|
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|
NM_001267550.2(TTN):c.39789G>A (p.Glu13263=)
|
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|
|
NM_001267550.2(TTN):c.39817+16del
|
rs902259785
|
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|
NM_001267550.2(TTN):c.39817+1G>C
|
rs959064823
|
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|
NM_001267550.2(TTN):c.39817+20G>C
|
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|
NM_001267550.2(TTN):c.39817+6_39817+7dup
|
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|
NM_001267550.2(TTN):c.39817+9C>T
|
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|
NM_001267550.2(TTN):c.39818-13C>A
|
rs1455452769
|
|
|
NM_001267550.2(TTN):c.39818-1G>C
|
rs2062662018
|
|
|
NM_001267550.2(TTN):c.39819G>A (p.Val13273=)
|
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|
|
NM_001267550.2(TTN):c.39819_39820delinsTT (p.Pro13274Ser)
|
rs727503630
|
|
|
NM_001267550.2(TTN):c.39834del (p.Lys13279fs)
|
rs886044415
|
|
|
NM_001267550.2(TTN):c.39849G>A (p.Glu13283=)
|
|
|
|
NM_001267550.2(TTN):c.3984C>A (p.Gly1328=)
|
rs72647872
|
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|
NM_001267550.2(TTN):c.39862G>C (p.Val13288Leu)
|
rs878854303
|
|
|
NM_001267550.2(TTN):c.39873A>G (p.Lys13291=)
|
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|
NM_001267550.2(TTN):c.39895+17G>T
|
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|
NM_001267550.2(TTN):c.39895+1G>A
|
rs749931280
|
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|
NM_001267550.2(TTN):c.39895+1G>C
|
rs749931280
|
|
|
NM_001267550.2(TTN):c.39895+2T>C
|
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|
NM_001267550.2(TTN):c.39895+7A>G
|
rs1299824475
|
|
|
NM_001267550.2(TTN):c.39896-18C>A
|
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|
NM_001267550.2(TTN):c.39896-4A>C
|
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|
NM_001267550.2(TTN):c.39936C>A (p.Val13312=)
|
rs1259485774
|
|
|
NM_001267550.2(TTN):c.39943G>C (p.Val13315Leu)
|
rs1553766447
|
|
|
NM_001267550.2(TTN):c.39973+12A>T
|
rs2154247958
|
|
|
NM_001267550.2(TTN):c.39973+15G>A
|
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|
NM_001267550.2(TTN):c.39973+15G>C
|
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|
|
NM_001267550.2(TTN):c.39973+15G>T
|
rs556956013
|
|
|
NM_001267550.2(TTN):c.39973+19G>A
|
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|
|
NM_001267550.2(TTN):c.39974-11T>C
|
rs758597536
|
|
|
NM_001267550.2(TTN):c.39974-15C>T
|
rs2154247753
|
|
|
NM_001267550.2(TTN):c.39974-19A>G
|
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|
|
NM_001267550.2(TTN):c.39974-1G>A
|
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|
|
NM_001267550.2(TTN):c.39984G>A (p.Val13328=)
|
rs1386451171
|
|
|
NM_001267550.2(TTN):c.39993A>G (p.Lys13331=)
|
rs2062538175
|
|
|
NM_001267550.2(TTN):c.39995T>G (p.Leu13332Arg)
|
rs1424568997
|
|
|
NM_001267550.2(TTN):c.3999T>C (p.His1333=)
|
|
|
|
NM_001267550.2(TTN):c.399T>C (p.Pro133=)
|
rs2094007472
|
|
|
NM_001267550.2(TTN):c.40017T>C (p.Pro13339=)
|
rs1553766018
|
|
|
NM_001267550.2(TTN):c.40047T>G (p.Leu13349=)
|
|
|
|
NM_001267550.2(TTN):c.40057+10A>G
|
rs1576917346
|
|
|
NM_001267550.2(TTN):c.40057+12G>A
|
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|
NM_001267550.2(TTN):c.40057+1G>A
|
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|
NM_001267550.2(TTN):c.40057+1G>C
|
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|
|
NM_001267550.2(TTN):c.40057+20A>G
|
rs2062517730
|
|
|
NM_001267550.2(TTN):c.40057+8C>A
|
|
|
|
NM_001267550.2(TTN):c.40057G>A (p.Val13353Met)
|
rs1422486813
|
|
|
NM_001267550.2(TTN):c.40058-12A>C
|
|
|
|
NM_001267550.2(TTN):c.40058-15del
|
rs1333487419
|
|
|
NM_001267550.2(TTN):c.40058-18A>G
|
|
|
|
NM_001267550.2(TTN):c.40058-19C>A
|
|
|
|
NM_001267550.2(TTN):c.40095A>G (p.Glu13365=)
|
|
|
|
NM_001267550.2(TTN):c.40104G>T (p.Val13368=)
|
|
|
|
NM_001267550.2(TTN):c.40107T>C (p.Pro13369=)
|
rs2154246091
|
|
|
NM_001267550.2(TTN):c.40110C>A (p.Ile13370=)
|
|
|
|
NM_001267550.2(TTN):c.4011C>T (p.Tyr1337=)
|
rs1246677370
|
|
|
NM_001267550.2(TTN):c.40141+17T>C
|
rs1028688301
|
|
|
NM_001267550.2(TTN):c.40141+6C>A
|
rs750448649
|
|
|
NM_001267550.2(TTN):c.40142-13A>G
|
|
|
|
NM_001267550.2(TTN):c.40142-14T>C
|
|
|
|
NM_001267550.2(TTN):c.40142-23_40142-15dup
|
|
|
|
NM_001267550.2(TTN):c.40179A>G (p.Lys13393=)
|
rs2154245586
|
|
|
NM_001267550.2(TTN):c.4017G>C (p.Met1339Ile)
|
rs1561323191
|
|
|
NM_001267550.2(TTN):c.40191C>A (p.Thr13397=)
|
|
|
|
NM_001267550.2(TTN):c.40209T>A (p.Thr13403=)
|
rs1400146703
|
|
|
NM_001267550.2(TTN):c.40212C>G (p.Pro13404=)
|
rs904268240
|
|
|
NM_001267550.2(TTN):c.40220_40222+1del
|
rs2154245535
|
|
|
NM_001267550.2(TTN):c.40222+13A>G
|
|
|
|
NM_001267550.2(TTN):c.40222+14T>C
|
|
|
|
NM_001267550.2(TTN):c.40222+16T>C
|
|
|
|
NM_001267550.2(TTN):c.40222+18T>C
|
|
|
|
NM_001267550.2(TTN):c.40222+19A>G
|
|
|
|
NM_001267550.2(TTN):c.40222+1G>A
|
|
|
|
NM_001267550.2(TTN):c.40222+2TA[10]
|
rs10580462
|
|
|
NM_001267550.2(TTN):c.40222+2TA[12]
|
rs10580462
|
|
|
NM_001267550.2(TTN):c.40222+2TA[6]
|
|
|
|
NM_001267550.2(TTN):c.40222+2TA[8]
|
rs10580462
|
|
|
NM_001267550.2(TTN):c.40222+2TA[9]
|
rs10580462
|
|
|
NM_001267550.2(TTN):c.40223-10T>C
|
rs2154244790
|
|
|
NM_001267550.2(TTN):c.40223-1G>A
|
|
|
|
NM_001267550.2(TTN):c.40223-4A>T
|
|
|
|
NM_001267550.2(TTN):c.40225C>T (p.Arg13409Cys)
|
rs769146381
|
|
|
NM_001267550.2(TTN):c.40227T>G (p.Arg13409=)
|
rs3754951
|
|
|
NM_001267550.2(TTN):c.40251T>G (p.Pro13417=)
|
rs2062029191
|
|
|
NM_001267550.2(TTN):c.40254A>G (p.Glu13418=)
|
|
|
|
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter)
|
rs727503697
|
|
|
NM_001267550.2(TTN):c.40281A>G (p.Glu13427=)
|
rs2154244709
|
|
|
NM_001267550.2(TTN):c.40297+13G>C
|
|
|
|
NM_001267550.2(TTN):c.40297+14T>C
|
|
|
|
NM_001267550.2(TTN):c.40297+1G>A
|
|
|
|
NM_001267550.2(TTN):c.40298-11A>G
|
|
|
|
NM_001267550.2(TTN):c.40316T>C (p.Val13439Ala)
|
rs1553761103
|
|
|
NM_001267550.2(TTN):c.40323G>A (p.Glu13441=)
|
rs748947621
|
|
|
NM_001267550.2(TTN):c.40342del (p.Arg13448fs)
|
|
|
|
NM_001267550.2(TTN):c.40349del (p.Pro13450fs)
|
|
|
|
NM_001267550.2(TTN):c.40359A>C (p.Pro13453=)
|
rs751336775
|
|
|
NM_001267550.2(TTN):c.40383G>A (p.Val13461=)
|
|
|
|
NM_001267550.2(TTN):c.40395A>C (p.Ile13465=)
|
rs766145596
|
|
|
NM_001267550.2(TTN):c.40404del (p.Ala13470fs)
|
|
|
|
NM_001267550.2(TTN):c.40408+10G>A
|
rs758643564
|
|
|
NM_001267550.2(TTN):c.40408+11C>A
|
|
|
|
NM_001267550.2(TTN):c.40408+11C>T
|
|
|
|
NM_001267550.2(TTN):c.40408+14C>T
|
|
|
|
NM_001267550.2(TTN):c.40408+15T>C
|
rs2061855297
|
|
|
NM_001267550.2(TTN):c.40408+17C>T
|
|
|
|
NM_001267550.2(TTN):c.40408+3dup
|
rs727504922
|
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
|
NM_001267550.2(TTN):c.40408G>A (p.Ala13470Thr)
|
rs2061858723
|
|
|
NM_001267550.2(TTN):c.40409-2A>C
|
rs1560046529
|
|
|
NM_001267550.2(TTN):c.40409-8C>A
|
rs1351493193
|
|
|
NM_001267550.2(TTN):c.40409-9T>C
|
|
|
|
NM_001267550.2(TTN):c.4041T>C (p.Ala1347=)
|
rs2154347569
|
|
|
NM_001267550.2(TTN):c.40431T>G (p.Pro13477=)
|
|
|
|
NM_001267550.2(TTN):c.40437del (p.Lys13479fs)
|
|
|
|
NM_001267550.2(TTN):c.40443G>A (p.Gln13481=)
|
|
|
|
NM_001267550.2(TTN):c.40458G>A (p.Val13486=)
|
rs769309224
|
|
|
NM_001267550.2(TTN):c.4045C>T (p.Leu1349=)
|
rs2154347567
|
|
|
NM_001267550.2(TTN):c.40464T>C (p.Leu13488=)
|
|
|
|
NM_001267550.2(TTN):c.40477+10A>G
|
|
|
|
NM_001267550.2(TTN):c.40477+7C>G
|
rs1553759307
|
|
|
NM_001267550.2(TTN):c.40478-12T>C
|
|
|
|
NM_001267550.2(TTN):c.40478-14C>A
|
|
|
|
NM_001267550.2(TTN):c.40478-18A>C
|
|
|
|
NM_001267550.2(TTN):c.40478-18A>G
|
|
|
|
NM_001267550.2(TTN):c.4047G>A (p.Leu1349=)
|
|
|
|
NM_001267550.2(TTN):c.40489G>T (p.Glu13497Ter)
|
|
|
|
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter)
|
rs974323028
|
|
|
NM_001267550.2(TTN):c.40530A>G (p.Glu13510=)
|
|
|
|
NM_001267550.2(TTN):c.40537del (p.Glu13513fs)
|
rs1553756349
|
|
|
NM_001267550.2(TTN):c.40545T>C (p.Val13515=)
|
|
|
|
NM_001267550.2(TTN):c.40548T>C (p.Val13516=)
|
|
|
|
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)
|
rs587780488
|
|
|
NM_001267550.2(TTN):c.40559-14T>G
|
rs2154238679
|
|
|
NM_001267550.2(TTN):c.40559-17C>T
|
|
|
|
NM_001267550.2(TTN):c.40559-8C>G
|
rs2061204822
|
|
|
NM_001267550.2(TTN):c.40575T>G (p.Pro13525=)
|
rs2154238652
|
|
|
NM_001267550.2(TTN):c.40576G>T (p.Glu13526Ter)
|
rs1560026402
|
|
|
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)
|
rs727504199
|
|
|
NM_001267550.2(TTN):c.4057GTT[1] (p.Val1354del)
|
rs878854304
|
|
|
NM_001267550.2(TTN):c.4057_4058del (p.Val1353fs)
|
|
|
|
NM_001267550.2(TTN):c.40590T>G (p.Pro13530=)
|
rs2154238641
|
|
|
NM_001267550.2(TTN):c.4059T>G (p.Val1353=)
|
|
|
|
NM_001267550.2(TTN):c.40633+3A>G
|
|
|
|
NM_001267550.2(TTN):c.40633+5G>A
|
rs2061194221
|
|
|
NM_001267550.2(TTN):c.40633+5G>T
|
|
|
|
NM_001267550.2(TTN):c.40634-13T>A
|
|
|
|
NM_001267550.2(TTN):c.40634-15_40634-11del
|
rs375561641
|
|
|
NM_001267550.2(TTN):c.40634-16T>C
|
|
|
|
NM_001267550.2(TTN):c.40634-17del
|
rs760969357
|
|
|
NM_001267550.2(TTN):c.40634-5T>C
|
rs904821775
|
|
|
NM_001267550.2(TTN):c.40634-7C>T
|
|
|
|
NM_001267550.2(TTN):c.40634-9A>C
|
rs373511249
|
|
|
NM_001267550.2(TTN):c.40635del (p.Pro13546fs)
|
rs2154238079
|
|
|
NM_001267550.2(TTN):c.40650T>C (p.Pro13550=)
|
rs1553754047
|
|
|
NM_001267550.2(TTN):c.40653A>C (p.Pro13551=)
|
|
|
|
NM_001267550.2(TTN):c.40666G>A (p.Glu13556Lys)
|
rs781066709
|
|
|
NM_001267550.2(TTN):c.40686del (p.Thr13563fs)
|
|
|
|
NM_001267550.2(TTN):c.4068A>G (p.Pro1356=)
|
|
|
|
NM_001267550.2(TTN):c.40691_40713dup (p.Pro13572fs)
|
|
|
|
NM_001267550.2(TTN):c.40699_40703del (p.Arg13567fs)
|
rs2154238027
|
|
|
NM_001267550.2(TTN):c.40699del (p.Arg13567fs)
|
|
|
|
NM_001267550.2(TTN):c.40712A>T (p.Glu13571Val)
|
rs1190002260
|
|
|
NM_001267550.2(TTN):c.40723+11A>C
|
|
|
|
NM_001267550.2(TTN):c.40723+12C>T
|
|
|
|
NM_001267550.2(TTN):c.40723+19T>G
|
|
|
|
NM_001267550.2(TTN):c.40723+1del
|
rs876658058
|
|
|
NM_001267550.2(TTN):c.40723+20C>G
|
rs1300479369
|
|
|
NM_001267550.2(TTN):c.40723+8T>G
|
rs1219288687
|
|
|
NM_001267550.2(TTN):c.40725G>T (p.Val13575=)
|
rs1349888277
|
|
|
NM_001267550.2(TTN):c.40750dup (p.Leu13584fs)
|
rs2061028828
|
|
|
NM_001267550.2(TTN):c.40751_40769del (p.Leu13584fs)
|
|
|
|
NM_001267550.2(TTN):c.40760_40787-52del
|
rs1553752889
|
|
|
NM_001267550.2(TTN):c.40776G>A (p.Lys13592=)
|
rs1182797999
|
|
|
NM_001267550.2(TTN):c.40779C>G (p.Pro13593=)
|
|
|
|
NM_001267550.2(TTN):c.40786+10C>T
|
|
|
|
NM_001267550.2(TTN):c.40786+18C>T
|
rs1262339735
|
|
|
NM_001267550.2(TTN):c.40787-2A>G
|
|
|
|
NM_001267550.2(TTN):c.40787-4A>C
|
rs1205464474
|
|
|
NM_001267550.2(TTN):c.40812T>C (p.Pro13604=)
|
rs879235662
|
|
|
NM_001267550.2(TTN):c.40818A>G (p.Glu13606=)
|
|
|
|
NM_001267550.2(TTN):c.40857A>G (p.Pro13619=)
|
|
|
|
NM_001267550.2(TTN):c.40869G>A (p.Lys13623=)
|
rs1553752615
|
|
|
NM_001267550.2(TTN):c.40876+12G>T
|
|
|
|
NM_001267550.2(TTN):c.40876+16C>G
|
|
|
|
NM_001267550.2(TTN):c.40876+19T>C
|
|
|
|
NM_001267550.2(TTN):c.40876G>C (p.Glu13626Gln)
|
|
|
|
NM_001267550.2(TTN):c.40877-14T>C
|
rs397517561
|
|
|
NM_001267550.2(TTN):c.40877-4_40877-3insTTTTATTTTTA
|
|
|
|
NM_001267550.2(TTN):c.40877-7A>C
|
rs727505201
|
|
|
NM_001267550.2(TTN):c.40879G>A (p.Ala13627Thr)
|
rs1060500548
|
|
|
NM_001267550.2(TTN):c.4089T>A (p.Thr1363=)
|
|
|
|
NM_001267550.2(TTN):c.40917T>C (p.Gly13639=)
|
|
|
|
NM_001267550.2(TTN):c.40921_40922dup (p.Lys13642fs)
|
|
|
|
NM_001267550.2(TTN):c.40927+19G>A
|
|
|
|
NM_001267550.2(TTN):c.40927+19G>T
|
|
|
|
NM_001267550.2(TTN):c.40927+1G>A
|
rs1553749862
|
|
|
NM_001267550.2(TTN):c.40927+3G>A
|
rs2154233434
|
|
|
NM_001267550.2(TTN):c.40927+7T>C
|
rs2060631229
|
|
|
NM_001267550.2(TTN):c.40927+8T>C
|
rs1307311967
|
|
|
NM_001267550.2(TTN):c.40928-17A>G
|
|
|
|
NM_001267550.2(TTN):c.40928-18T>C
|
|
|
|
NM_001267550.2(TTN):c.40928-2A>C
|
rs2154231706
|
|
|
NM_001267550.2(TTN):c.40928-8T>C
|
rs2154231718
|
|
|
NM_001267550.2(TTN):c.40929T>C (p.Gly13643=)
|
rs773615100
|
|
|
NM_001267550.2(TTN):c.40940del (p.Lys13647fs)
|
rs2154231664
|
|
|
NM_001267550.2(TTN):c.40940dup (p.Thr13648fs)
|
|
|
|
NM_001267550.2(TTN):c.40944T>G (p.Thr13648=)
|
rs2154231659
|
|
|
NM_001267550.2(TTN):c.40950A>G (p.Ser13650=)
|
rs778416722
|
|
|
NM_001267550.2(TTN):c.40962C>A (p.Ala13654=)
|
rs917199946
|
|
|
NM_001267550.2(TTN):c.40966A>C (p.Arg13656=)
|
|
|
|
NM_001267550.2(TTN):c.40968G>A (p.Arg13656=)
|
rs991125044
|
|
|
NM_001267550.2(TTN):c.40974G>A (p.Lys13658=)
|
rs752465783
|
|
|
NM_001267550.2(TTN):c.40975T>C (p.Leu13659=)
|
rs1294042752
|
|
|
NM_001267550.2(TTN):c.40992T>C (p.Gly13664=)
|
|
|
|
NM_001267550.2(TTN):c.41016C>A (p.Ala13672=)
|
rs1396927073
|
|
|
NM_001267550.2(TTN):c.4101C>T (p.Ser1367=)
|
rs1307238681
|
|
|
NM_001267550.2(TTN):c.4102A>C (p.Asn1368His)
|
rs1377114122
|
|
|
NM_001267550.2(TTN):c.41043del (p.Pro13682fs)
|
|
|
|
NM_001267550.2(TTN):c.41091A>C (p.Ser13697=)
|
|
|
|
NM_001267550.2(TTN):c.41118del (p.Phe13706fs)
|
rs878854305
|
|
|
NM_001267550.2(TTN):c.41124T>C (p.Cys13708=)
|
rs794729424
|
|
|
NM_001267550.2(TTN):c.41149A>C (p.Thr13717Pro)
|
rs1553747949
|
|
|
NM_001267550.2(TTN):c.41151A>C (p.Thr13717=)
|
|
|
|
NM_001267550.2(TTN):c.41152A>T (p.Thr13718Ser)
|
rs562561380
|
|
|
NM_001267550.2(TTN):c.41175T>C (p.Asn13725=)
|
rs2154231331
|
|
|
NM_001267550.2(TTN):c.41193G>A (p.Lys13731=)
|
rs559968058
|
|
|
NM_001267550.2(TTN):c.41222_41223del (p.Arg13741fs)
|
rs1436937190
|
|
|
NM_001267550.2(TTN):c.41232C>T (p.His13744=)
|
rs2060459708
|
|
|
NM_001267550.2(TTN):c.41253C>A (p.Ser13751=)
|
|
|
|
NM_001267550.2(TTN):c.41253C>T (p.Ser13751=)
|
rs772643931
|
|
|
NM_001267550.2(TTN):c.41254G>A (p.Asp13752Asn)
|
rs1349773180
|
|
|
NM_001267550.2(TTN):c.41256T>C (p.Asp13752=)
|
rs1280849710
|
|
|
NM_001267550.2(TTN):c.4126T>C (p.Ser1376Pro)
|
rs1060500425
|
|
|
NM_001267550.2(TTN):c.41275_41276del (p.Val13759fs)
|
rs1576745536
|
|
|
NM_001267550.2(TTN):c.41304C>G (p.Thr13768=)
|
|
|
|
NM_001267550.2(TTN):c.41326dup (p.Glu13776fs)
|
rs2154231011
|
|
|
NM_001267550.2(TTN):c.41329+12T>A
|
|
|
|
NM_001267550.2(TTN):c.41329+12T>C
|
|
|
|
NM_001267550.2(TTN):c.41329+13C>T
|
|
|
|
NM_001267550.2(TTN):c.41329+16C>T
|
|
|
|
NM_001267550.2(TTN):c.41329+1G>T
|
rs796238032
|
|
|
NM_001267550.2(TTN):c.41329+2T>G
|
rs1553747489
|
|
|
NM_001267550.2(TTN):c.41329+2dup
|
|
|
|
NM_001267550.2(TTN):c.41330-19A>G
|
|
|
|
NM_001267550.2(TTN):c.41330-1G>T
|
rs2154230691
|
|
|
NM_001267550.2(TTN):c.41330-8C>T
|
|
|
|
NM_001267550.2(TTN):c.41337T>A (p.Pro13779=)
|
|
|
|
NM_001267550.2(TTN):c.41340G>A (p.Val13780=)
|
|
|
|
NM_001267550.2(TTN):c.41346T>C (p.Phe13782=)
|
rs775083810
|
|
|
NM_001267550.2(TTN):c.4134A>G (p.Lys1378=)
|
rs1230375831
|
|
|
NM_001267550.2(TTN):c.41364G>A (p.Glu13788=)
|
rs2154230636
|
|
|
NM_001267550.2(TTN):c.41367dup (p.Val13790fs)
|
|
|
|
NM_001267550.2(TTN):c.41392T>C (p.Leu13798=)
|
|
|
|
NM_001267550.2(TTN):c.41406C>A (p.Cys13802Ter)
|
|
|
|
NM_001267550.2(TTN):c.41415_41418del (p.Asn13805fs)
|
rs1576741993
|
|
|
NM_001267550.2(TTN):c.41421G>A (p.Glu13807=)
|
rs2154230495
|
|
|
NM_001267550.2(TTN):c.41432del (p.Val13811fs)
|
rs2060408539
|
|
|
NM_001267550.2(TTN):c.41434dup (p.Trp13812fs)
|
rs2060408311
|
|
|
NM_001267550.2(TTN):c.41436G>A (p.Trp13812Ter)
|
rs2060408042
|
|
|
NM_001267550.2(TTN):c.41442G>A (p.Lys13814=)
|
|
|
|
NM_001267550.2(TTN):c.41445T>C (p.Asp13815=)
|
rs745623759
|
|
|
NM_001267550.2(TTN):c.41451G>A (p.Lys13817=)
|
rs2154230414
|
|
|
NM_001267550.2(TTN):c.41460G>A (p.Val13820=)
|
|
|
|
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter)
|
rs869312043
|
|
|
NM_001267550.2(TTN):c.41483del (p.Pro13828fs)
|
rs876657664
|
|
|
NM_001267550.2(TTN):c.41503C>A (p.Arg13835=)
|
rs886055278
|
|
|
NM_001267550.2(TTN):c.41520C>T (p.Asn13840=)
|
rs2154230235
|
|
|
NM_001267550.2(TTN):c.41526A>G (p.Ala13842=)
|
rs2154230220
|
|
|
NM_001267550.2(TTN):c.41542G>A (p.Gly13848Arg)
|
rs1553746427
|
|
|
NM_001267550.2(TTN):c.41544A>C (p.Gly13848=)
|
rs2060392791
|
|
|
NM_001267550.2(TTN):c.41544A>T (p.Gly13848=)
|
|
|
|
NM_001267550.2(TTN):c.41548T>C (p.Tyr13850His)
|
rs774281208
|
|
|
NM_001267550.2(TTN):c.41556T>C (p.Val13852=)
|
rs371910445
|
|
|
NM_001267550.2(TTN):c.41562G>C (p.Val13854=)
|
rs1553746360
|
|
|
NM_001267550.2(TTN):c.41581G>T (p.Glu13861Ter)
|
rs2154230108
|
|
|
NM_001267550.2(TTN):c.41582A>C (p.Glu13861Ala)
|
rs1553746267
|
|
|
NM_001267550.2(TTN):c.41589A>G (p.Ser13863=)
|
|
|
|
NM_001267550.2(TTN):c.41595C>T (p.Cys13865=)
|
rs1336274191
|
|
|
NM_001267550.2(TTN):c.415C>A (p.Arg139=)
|
rs752970602
|
|
|
NM_001267550.2(TTN):c.41608+19G>A
|
|
|
|
NM_001267550.2(TTN):c.41608+4A>C
|
rs2154230052
|
|
|
NM_001267550.2(TTN):c.41608+8C>T
|
rs2060384548
|
|
|
NM_001267550.2(TTN):c.41609-2A>C
|
rs730880244
|
|
|
NM_001267550.2(TTN):c.41609-2A>G
|
rs730880244
|
|
|
NM_001267550.2(TTN):c.41613C>A (p.Val13871=)
|
|
|
|
NM_001267550.2(TTN):c.41631G>A (p.Val13877=)
|
rs2154229572
|
|
|
NM_001267550.2(TTN):c.41673T>C (p.Ala13891=)
|
rs2154229543
|
|
|
NM_001267550.2(TTN):c.41682C>T (p.Ala13894=)
|
|
|
|
NM_001267550.2(TTN):c.41706A>G (p.Pro13902=)
|
|
|
|
NM_001267550.2(TTN):c.41709C>T (p.Asn13903=)
|
|
|
|
NM_001267550.2(TTN):c.41768T>A (p.Ile13923Lys)
|
rs1553745511
|
|
|
NM_001267550.2(TTN):c.41770C>T (p.Leu13924=)
|
|
|
|
NM_001267550.2(TTN):c.41772G>A (p.Leu13924=)
|
|
|
|
NM_001267550.2(TTN):c.41781A>C (p.Gly13927=)
|
|
|
|
NM_001267550.2(TTN):c.41788C>T (p.Leu13930=)
|
|
|
|
NM_001267550.2(TTN):c.41790G>A (p.Leu13930=)
|
rs767644971
|
|
|
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter)
|
rs794729380
|
|
|
NM_001267550.2(TTN):c.41794del (p.Leu13932fs)
|
rs2060330825
|
|
|
NM_001267550.2(TTN):c.41808T>C (p.Asn13936=)
|
|
|
|
NM_001267550.2(TTN):c.41817del (p.Glu13940fs)
|
rs2154229464
|
|
|
NM_001267550.2(TTN):c.4182C>G (p.Pro1394=)
|
rs775070186
|
|
|
NM_001267550.2(TTN):c.41832G>A (p.Glu13944=)
|
|
|
|
NM_001267550.2(TTN):c.41856A>G (p.Lys13952=)
|
|
|
|
NM_001267550.2(TTN):c.4185A>G (p.Thr1395=)
|
rs905104077
|
|
|
NM_001267550.2(TTN):c.41862C>T (p.Tyr13954=)
|
rs1553745330
|
|
|
NM_001267550.2(TTN):c.41877A>C (p.Thr13959=)
|
|
|
|
NM_001267550.2(TTN):c.41884+13_41884+34del
|
|
|
|
NM_001267550.2(TTN):c.41884+14C>G
|
|
|
|
NM_001267550.2(TTN):c.41884+15C>T
|
rs2060320323
|
|
|
NM_001267550.2(TTN):c.41885-17A>T
|
|
|
|
NM_001267550.2(TTN):c.41885-3_41885del
|
rs2154229192
|
|
|
NM_001267550.2(TTN):c.41885-7A>G
|
rs2154229204
|
|
|
NM_001267550.2(TTN):c.41892A>G (p.Glu13964=)
|
|
|
|
NM_001267550.2(TTN):c.41919C>T (p.Asp13973=)
|
|
|
|
NM_001267550.2(TTN):c.41922T>C (p.Val13974=)
|
|
|
|
NM_001267550.2(TTN):c.41937del (p.Glu13980fs)
|
|
|
|
NM_001267550.2(TTN):c.41941dup (p.Ser13981fs)
|
|
|
|
NM_001267550.2(TTN):c.41946A>G (p.Ala13982=)
|
rs1553744923
|
|
|
NM_001267550.2(TTN):c.41949C>T (p.Ser13983=)
|
rs2154229075
|
|
|
NM_001267550.2(TTN):c.4195G>T (p.Val1399Leu)
|
rs1554011657
|
|
|
NM_001267550.2(TTN):c.41962_41963del (p.Ile13988fs)
|
|
|
|
NM_001267550.2(TTN):c.4197G>A (p.Val1399=)
|
|
|
|
NM_001267550.2(TTN):c.41985A>G (p.Gly13995=)
|
rs2154229021
|
|
|
NM_001267550.2(TTN):c.42003A>T (p.Gly14001=)
|
rs1553744821
|
|
|
NM_001267550.2(TTN):c.42021A>C (p.Ser14007=)
|
|
|
|
NM_001267550.2(TTN):c.42024+17T>A
|
|
|
|
NM_001267550.2(TTN):c.42024+1G>C
|
rs2154228980
|
|
|
NM_001267550.2(TTN):c.42024+9T>C
|
rs1392186128
|
|
|
NM_001267550.2(TTN):c.42024del (p.Thr14009fs)
|
rs2060282891
|
|
|
NM_001267550.2(TTN):c.42025-11T>C
|
|
|
|
NM_001267550.2(TTN):c.42025-14C>T
|
|
|
|
NM_001267550.2(TTN):c.42025-18A>G
|
|
|
|
NM_001267550.2(TTN):c.42030T>C (p.Cys14010=)
|
|
|
|
NM_001267550.2(TTN):c.42046G>A (p.Gly14016Ser)
|
rs367751077
|
|
|
NM_001267550.2(TTN):c.42054dup (p.Arg14019fs)
|
rs1559977271
|
|
|
NM_001267550.2(TTN):c.42057C>T (p.Arg14019=)
|
|
|
|
NM_001267550.2(TTN):c.4206C>T (p.Ile1402=)
|
rs1554011604
|
|
|
NM_001267550.2(TTN):c.4208+15A>C
|
|
|
|
NM_001267550.2(TTN):c.4209-18T>C
|
|
|
|
NM_001267550.2(TTN):c.4209-19G>A
|
|
|
|
NM_001267550.2(TTN):c.4209-19G>T
|
|
|
|
NM_001267550.2(TTN):c.4209-8T>C
|
rs2154346907
|
|
|
NM_001267550.2(TTN):c.42096T>A (p.Gly14032=)
|
|
|
|
NM_001267550.2(TTN):c.42097G>T (p.Glu14033Ter)
|
rs2154228367
|
|
|
NM_001267550.2(TTN):c.42103C>T (p.Leu14035Phe)
|
rs1433887768
|
|
|
NM_001267550.2(TTN):c.42108C>G (p.Tyr14036Ter)
|
rs1311474144
|
|
|
NM_001267550.2(TTN):c.42111G>A (p.Gln14037=)
|
|
|
|
NM_001267550.2(TTN):c.42114C>T (p.Ala14038=)
|
rs1392851149
|
|
|
NM_001267550.2(TTN):c.42135C>T (p.Ala14045=)
|
|
|
|
NM_001267550.2(TTN):c.42151+14A>C
|
|
|
|
NM_001267550.2(TTN):c.42151+17A>C
|
rs546392087
|
|
|
NM_001267550.2(TTN):c.42151+18T>C
|
|
|
|
NM_001267550.2(TTN):c.42151+19T>C
|
|
|
|
NM_001267550.2(TTN):c.42151+3A>G
|
rs770439451
|
|
|
NM_001267550.2(TTN):c.42151+8G>A
|
|
|
|
NM_001267550.2(TTN):c.42152-13G>A
|
|
|
|
NM_001267550.2(TTN):c.42152-16A>T
|
|
|
|
NM_001267550.2(TTN):c.42152-7_42153del
|
rs1559975119
|
|
|
NM_001267550.2(TTN):c.4216_4219del (p.Ser1406fs)
|
rs2154346896
|
|
|
NM_001267550.2(TTN):c.42181A>T (p.Lys14061Ter)
|
|
|
|
NM_001267550.2(TTN):c.42189C>T (p.Val14063=)
|
|
|
|
NM_001267550.2(TTN):c.4218T>A (p.Ser1406=)
|
|
|
|
NM_001267550.2(TTN):c.4218_4219del (p.Pro1407fs)
|
|
|
|
NM_001267550.2(TTN):c.42202dup (p.Arg14068fs)
|
rs1559974529
|
|
|
NM_001267550.2(TTN):c.42204G>A (p.Arg14068=)
|
|
|
|
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter)
|
rs2060187635
|
|
|
NM_001267550.2(TTN):c.42207A>T (p.Arg14069=)
|
|
|
|
NM_001267550.2(TTN):c.42208C>T (p.Gln14070Ter)
|
rs2154227697
|
|
|
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter)
|
rs745926057
|
|
|
NM_001267550.2(TTN):c.42235del (p.Arg14079fs)
|
rs2154227519
|
|
|
NM_001267550.2(TTN):c.42267T>G (p.Pro14089=)
|
|
|
|
NM_001267550.2(TTN):c.42273A>C (p.Ile14091=)
|
|
|
|
NM_001267550.2(TTN):c.42281C>G (p.Ser14094Ter)
|
|
|
|
NM_001267550.2(TTN):c.42300C>T (p.Ile14100=)
|
|
|
|
NM_001267550.2(TTN):c.42303C>T (p.Ile14101=)
|
|
|
|
NM_001267550.2(TTN):c.42312A>G (p.Gly14104=)
|
rs892874364
|
|
|
NM_001267550.2(TTN):c.42319_42322dup (p.Ile14108fs)
|
rs2060173229
|
|
|
NM_001267550.2(TTN):c.42343C>T (p.Gln14115Ter)
|
rs2060169705
|
|
|
NM_001267550.2(TTN):c.42354T>C (p.Asp14118=)
|
|
|
|
NM_001267550.2(TTN):c.42355dup (p.Glu14119fs)
|
|
|
|
NM_001267550.2(TTN):c.42375G>A (p.Glu14125=)
|
rs781541454
|
|
|
NM_001267550.2(TTN):c.42378G>A (p.Val14126=)
|
|
|
|
NM_001267550.2(TTN):c.42382G>A (p.Gly14128Ser)
|
rs1553743503
|
|
|
NM_001267550.2(TTN):c.42384C>T (p.Gly14128=)
|
|
|
|
NM_001267550.2(TTN):c.42405G>A (p.Leu14135=)
|
|
|
|
NM_001267550.2(TTN):c.42415+13A>C
|
|
|
|
NM_001267550.2(TTN):c.42415+14T>A
|
|
|
|
NM_001267550.2(TTN):c.42415+17G>A
|
|
|
|
NM_001267550.2(TTN):c.42415+17G>C
|
|
|
|
NM_001267550.2(TTN):c.42415+9G>C
|
|
|
|
NM_001267550.2(TTN):c.42416-18T>C
|
|
|
|
NM_001267550.2(TTN):c.42416-20T>C
|
rs2154226352
|
|
|
NM_001267550.2(TTN):c.42445_42446insTTT (p.Glu14149delinsValTer)
|
rs2060125843
|
|
|
NM_001267550.2(TTN):c.42447A>G (p.Glu14149=)
|
rs879241728
|
|
|
NM_001267550.2(TTN):c.42462A>G (p.Lys14154=)
|
|
|
|
NM_001267550.2(TTN):c.42465A>G (p.Glu14155=)
|
|
|
|
NM_001267550.2(TTN):c.42468T>C (p.Gly14156=)
|
rs774061049
|
|
|
NM_001267550.2(TTN):c.42474del (p.Ala14159fs)
|
rs2060122241
|
|
|
NM_001267550.2(TTN):c.42483T>C (p.Phe14161=)
|
rs1229612568
|
|
|
NM_001267550.2(TTN):c.42484del (p.Val14162fs)
|
|
|
|
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs)
|
rs797046064
|
|
|
NM_001267550.2(TTN):c.42513T>C (p.His14171=)
|
|
|
|
NM_001267550.2(TTN):c.42531T>C (p.Asn14177=)
|
|
|
|
NM_001267550.2(TTN):c.42540del (p.Lys14180fs)
|
|
|
|
NM_001267550.2(TTN):c.42549A>C (p.Thr14183=)
|
rs756863078
|
|
|
NM_001267550.2(TTN):c.42591A>G (p.Lys14197=)
|
rs1433094325
|
|
|
NM_001267550.2(TTN):c.42592T>C (p.Leu14198=)
|
rs763186372
|
|
|
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs)
|
rs1553742630
|
|
|
NM_001267550.2(TTN):c.42615G>A (p.Leu14205=)
|
|
|
|
NM_001267550.2(TTN):c.4261C>A (p.Arg1421=)
|
|
|
|
NM_001267550.2(TTN):c.42621T>C (p.Asp14207=)
|
|
|
|
NM_001267550.2(TTN):c.42636del (p.Ala14213fs)
|
rs869312106
|
|
|
NM_001267550.2(TTN):c.42639dup (p.Gln14214fs)
|
rs2060106818
|
|
|
NM_001267550.2(TTN):c.42645C>G (p.Val14215=)
|
|
|
|
NM_001267550.2(TTN):c.42646A>T (p.Lys14216Ter)
|
|
|
|
NM_001267550.2(TTN):c.42648G>A (p.Lys14216=)
|
|
|
|
NM_001267550.2(TTN):c.42651G>A (p.Glu14217=)
|
|
|
|
NM_001267550.2(TTN):c.42654G>A (p.Leu14218=)
|
|
|
|
NM_001267550.2(TTN):c.42654G>T (p.Leu14218=)
|
rs1212212394
|
|
|
NM_001267550.2(TTN):c.42663A>G (p.Thr14221=)
|
|
|
|
NM_001267550.2(TTN):c.42682+12C>G
|
|
|
|
NM_001267550.2(TTN):c.42682+14A>C
|
rs2154225957
|
|
|
NM_001267550.2(TTN):c.42682+16T>C
|
|
|
|
NM_001267550.2(TTN):c.42682G>C (p.Glu14228Gln)
|
|
|
|
NM_001267550.2(TTN):c.42683-11G>A
|
|
|
|
NM_001267550.2(TTN):c.42683-5T>C
|
|
|
|
NM_001267550.2(TTN):c.42695del (p.Tyr14232fs)
|
|
|
|
NM_001267550.2(TTN):c.42714T>C (p.His14238=)
|
|
|
|
NM_001267550.2(TTN):c.42714T>G (p.His14238Gln)
|
rs1438979717
|
|
|
NM_001267550.2(TTN):c.42748T>C (p.Leu14250=)
|
rs2154225733
|
|
|
NM_001267550.2(TTN):c.42756T>C (p.Cys14252=)
|
|
|
|
NM_001267550.2(TTN):c.42762G>C (p.Val14254=)
|
rs747807093
|
|
|
NM_001267550.2(TTN):c.42777A>G (p.Pro14259=)
|
|
|
|
NM_001267550.2(TTN):c.42780G>A (p.Val14260=)
|
rs2154225693
|
|
|
NM_001267550.2(TTN):c.42785G>A (p.Trp14262Ter)
|
rs886042681
|
|
|
NM_001267550.2(TTN):c.42789C>T (p.Phe14263=)
|
rs2154225680
|
|
|
NM_001267550.2(TTN):c.427G>T (p.Glu143Ter)
|
|
|
|
NM_001267550.2(TTN):c.42822del (p.Lys14274fs)
|
rs2060064534
|
|
|
NM_001267550.2(TTN):c.42840T>C (p.Asp14280=)
|
rs760643071
|
|
|
NM_001267550.2(TTN):c.4284T>C (p.Ser1428=)
|
rs771454835
|
|
|
NM_001267550.2(TTN):c.42867A>G (p.Lys14289=)
|
|
|
|
NM_001267550.2(TTN):c.42869A>C (p.Lys14290Thr)
|
rs1060500499
|
|
|
NM_001267550.2(TTN):c.42873G>T (p.Ala14291=)
|
rs370216450
|
|
|
NM_001267550.2(TTN):c.42897T>A (p.Tyr14299Ter)
|
|
|
|
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu)
|
rs577298130
|
|
|
NM_001267550.2(TTN):c.42919_42923del (p.Lys14307fs)
|
rs1060500566
|
|
|
NM_001267550.2(TTN):c.4291C>A (p.Arg1431=)
|
|
|
|
NM_001267550.2(TTN):c.4293del (p.Met1432fs)
|
|
|
|
NM_001267550.2(TTN):c.42946+12A>G
|
|
|
|
NM_001267550.2(TTN):c.42946+16A>G
|
|
|
|
NM_001267550.2(TTN):c.42946+18G>A
|
rs2060047874
|
|
|
NM_001267550.2(TTN):c.42946+1G>T
|
rs1553741531
|
|
|
NM_001267550.2(TTN):c.42946+9C>T
|
|
|
|
NM_001267550.2(TTN):c.42947-11T>G
|
|
|
|
NM_001267550.2(TTN):c.42947-11dup
|
|
|
|
NM_001267550.2(TTN):c.42947-12_42947-11del
|
rs1352151183
|
|
|
NM_001267550.2(TTN):c.42947-18A>C
|
|
|
|
NM_001267550.2(TTN):c.42947-18A>T
|
rs766977954
|
|
|
NM_001267550.2(TTN):c.42947-4T>C
|
rs1576702813
|
|
|
NM_001267550.2(TTN):c.42947-6T>A
|
|
|
|
NM_001267550.2(TTN):c.42949C>T (p.Arg14317Ter)
|
rs376799532
|
|
|
NM_001267550.2(TTN):c.42950G>C (p.Arg14317Pro)
|
rs727505144
|
|
|
NM_001267550.2(TTN):c.42978C>A (p.Tyr14326Ter)
|
|
|
|
NM_001267550.2(TTN):c.42987G>A (p.Glu14329=)
|
rs2154224724
|
|
|
NM_001267550.2(TTN):c.42993del (p.Phe14331fs)
|
|
|
|
NM_001267550.2(TTN):c.4299C>T (p.Ser1433=)
|
rs2092394103
|
|
|
NM_001267550.2(TTN):c.429A>G (p.Glu143=)
|
rs878966869
|
|
|
NM_001267550.2(TTN):c.43008C>T (p.Ala14336=)
|
|
|
|
NM_001267550.2(TTN):c.43011C>T (p.His14337=)
|
rs1312213401
|
|
|
NM_001267550.2(TTN):c.43018del (p.Ile14340fs)
|
|
|
|
NM_001267550.2(TTN):c.4301del (p.Pro1434fs)
|
|
|
|
NM_001267550.2(TTN):c.4302T>C (p.Pro1434=)
|
rs1561310756
|
|
|
NM_001267550.2(TTN):c.43044C>T (p.His14348=)
|
rs1060503970
|
|
|
NM_001267550.2(TTN):c.43050G>A (p.Gln14350=)
|
rs2154224533
|
|
|
NM_001267550.2(TTN):c.43077A>G (p.Thr14359=)
|
|
|
|
NM_001267550.2(TTN):c.43086+3A>G
|
rs2060017452
|
|
|
NM_001267550.2(TTN):c.43086+5G>A
|
|
|
|
NM_001267550.2(TTN):c.43087-12C>T
|
|
|
|
NM_001267550.2(TTN):c.43087-16C>T
|
rs780230512
|
|
|
NM_001267550.2(TTN):c.43087-19T>C
|
|
|
|
NM_001267550.2(TTN):c.43087-8C>G
|
|
|
|
NM_001267550.2(TTN):c.43087-9T>C
|
|
|
|
NM_001267550.2(TTN):c.43098C>A (p.Ile14366=)
|
rs2154223614
|
|
|
NM_001267550.2(TTN):c.43122del (p.Ile14374_Leu14375insTer)
|
rs1203006457
|
|
|
NM_001267550.2(TTN):c.43133A>G (p.His14378Arg)
|
rs878854307
|
|
|
NM_001267550.2(TTN):c.43138T>C (p.Cys14380Arg)
|
rs557125278
|
|
|
NM_001267550.2(TTN):c.43141C>T (p.Gln14381Ter)
|
rs754568652
|
|
|
NM_001267550.2(TTN):c.43158A>C (p.Gly14386=)
|
|
|
|
NM_001267550.2(TTN):c.43167C>G (p.Ser14389=)
|
rs375780439
|
|
|
NM_001267550.2(TTN):c.43170C>T (p.Phe14390=)
|
rs776508398
|
|
|
NM_001267550.2(TTN):c.43195_43198del (p.Ala14399fs)
|
|
|
|
NM_001267550.2(TTN):c.43211A>C (p.Lys14404Thr)
|
rs1296402152
|
|
|
NM_001267550.2(TTN):c.43213+16C>T
|
rs1057520390
|
|
|
NM_001267550.2(TTN):c.43213+19C>T
|
|
|
|
NM_001267550.2(TTN):c.43213+1G>A
|
|
|
|
NM_001267550.2(TTN):c.43213+1G>T
|
|
|
|
NM_001267550.2(TTN):c.43214-13C>T
|
|
|
|
NM_001267550.2(TTN):c.43214-19C>T
|
|
|
|
NM_001267550.2(TTN):c.43214-1G>C
|
|
|
|
NM_001267550.2(TTN):c.43214-2A>G
|
|
|
|
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His)
|
rs72647876
|
|
|
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)
|
rs72647876
|
|
|
NM_001267550.2(TTN):c.43242C>G (p.Leu14414=)
|
rs2059958378
|
|
|
NM_001267550.2(TTN):c.43253_43254del (p.Lys14418fs)
|
rs2059956960
|
|
|
NM_001267550.2(TTN):c.43255G>A (p.Val14419Ile)
|
rs529018517
|
|
|
NM_001267550.2(TTN):c.43263G>A (p.Glu14421=)
|
|
|
|
NM_001267550.2(TTN):c.43269del (p.Asp14423fs)
|
|
|
|
NM_001267550.2(TTN):c.43287T>C (p.Cys14429=)
|
rs2154222446
|
|
|
NM_001267550.2(TTN):c.43288del (p.Glu14430fs)
|
|
|
|
NM_001267550.2(TTN):c.432_442del (p.Ile144_Gln145insTer)
|
|
|
|
NM_001267550.2(TTN):c.4330del (p.Glu1444fs)
|
|
|
|
NM_001267550.2(TTN):c.43316del (p.Arg14439fs)
|
|
|
|
NM_001267550.2(TTN):c.43319G>A (p.Trp14440Ter)
|
|
|
|
NM_001267550.2(TTN):c.4332G>A (p.Glu1444=)
|
|
|
|
NM_001267550.2(TTN):c.43351G>A (p.Asp14451Asn)
|
rs768931150
|
|
|
NM_001267550.2(TTN):c.43371G>A (p.Lys14457=)
|
rs756061256
|
|
|
NM_001267550.2(TTN):c.43372del (p.Asp14458fs)
|
rs794729314
|
|
|
NM_001267550.2(TTN):c.43401G>A (p.Lys14467=)
|
rs751420847
|
|
|
NM_001267550.2(TTN):c.43404A>C (p.Ser14468=)
|
|
|
|
NM_001267550.2(TTN):c.43413T>C (p.Phe14471=)
|
|
|
|
NM_001267550.2(TTN):c.43418del (p.Asp14473fs)
|
|
|
|
NM_001267550.2(TTN):c.43422A>T (p.Glu14474Asp)
|
rs998106657
|
|
|
NM_001267550.2(TTN):c.43431C>G (p.Tyr14477Ter)
|
rs1559955466
|
|
|
NM_001267550.2(TTN):c.43446del (p.Asp14483fs)
|
rs2154221841
|
|
|
NM_001267550.2(TTN):c.43455C>T (p.His14485=)
|
rs769249986
|
|
|
NM_001267550.2(TTN):c.43468C>T (p.Leu14490=)
|
rs2154221769
|
|
|
NM_001267550.2(TTN):c.43474del (p.Ile14492fs)
|
rs2059934937
|
|
|
NM_001267550.2(TTN):c.43480+12T>C
|
|
|
|
NM_001267550.2(TTN):c.43480+13A>G
|
|
|
|
NM_001267550.2(TTN):c.43480+16A>G
|
|
|
|
NM_001267550.2(TTN):c.43480+17A>G
|
|
|
|
NM_001267550.2(TTN):c.43480+20A>G
|
rs375939057
|
|
|
NM_001267550.2(TTN):c.43480+4_43480+5del
|
|
|
|
NM_001267550.2(TTN):c.43480+7A>T
|
|
|
|
NM_001267550.2(TTN):c.43480+9T>G
|
|
|
|
NM_001267550.2(TTN):c.43481-10_43481-9del
|
rs730880350
|
|
|
NM_001267550.2(TTN):c.43481-12T>C
|
|
|
|
NM_001267550.2(TTN):c.43481-16dup
|
rs730880350
|
|
|
NM_001267550.2(TTN):c.43481-17_43481-14del
|
rs750300288
|
|
|
NM_001267550.2(TTN):c.43481-5G>A
|
rs2154220888
|
|
|
NM_001267550.2(TTN):c.43483del (p.Ile14495fs)
|
rs2059913524
|
|
|
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser)
|
rs115825044
|
|
|
NM_001267550.2(TTN):c.43530G>A (p.Glu14510=)
|
|
|
|
NM_001267550.2(TTN):c.43536A>G (p.Glu14512=)
|
rs776208084
|
|
|
NM_001267550.2(TTN):c.43538del (p.Ser14513fs)
|
|
|
|
NM_001267550.2(TTN):c.43545A>G (p.Val14515=)
|
rs2154220676
|
|
|
NM_001267550.2(TTN):c.43563T>C (p.Ser14521=)
|
|
|
|
NM_001267550.2(TTN):c.43563_43575del (p.His14522fs)
|
|
|
|
NM_001267550.2(TTN):c.43575C>A (p.Ile14525=)
|
rs1300185874
|
|
|
NM_001267550.2(TTN):c.43576C>T (p.Arg14526Ter)
|
rs2154220622
|
|
|
NM_001267550.2(TTN):c.43599C>T (p.Asp14533=)
|
|
|
|
NM_001267550.2(TTN):c.43644G>A (p.Gly14548=)
|
|
|
|
NM_001267550.2(TTN):c.43652dup (p.His14551fs)
|
|
|
|
NM_001267550.2(TTN):c.43655C>A (p.Ser14552Ter)
|
|
|
|
NM_001267550.2(TTN):c.43662A>G (p.Thr14554=)
|
rs1218620496
|
|
|
NM_001267550.2(TTN):c.43666A>G (p.Lys14556Glu)
|
rs1553738199
|
|
|
NM_001267550.2(TTN):c.43693C>T (p.Gln14565Ter)
|
|
|
|
NM_001267550.2(TTN):c.43710T>A (p.Ala14570=)
|
rs2154220572
|
|
|
NM_001267550.2(TTN):c.43710dup (p.Met14571fs)
|
rs2154220574
|
|
|
NM_001267550.2(TTN):c.43737C>G (p.Leu14579=)
|
rs1296986671
|
|
|
NM_001267550.2(TTN):c.43747+12T>C
|
rs2154220556
|
|
|
NM_001267550.2(TTN):c.43747+18T>G
|
|
|
|
NM_001267550.2(TTN):c.43747+5G>A
|
rs878854308
|
|
|
NM_001267550.2(TTN):c.43747+5G>C
|
rs878854308
|
|
|
NM_001267550.2(TTN):c.43748-14T>C
|
|
|
|
NM_001267550.2(TTN):c.43748-15A>G
|
|
|
|
NM_001267550.2(TTN):c.43748-1G>A
|
rs794729259
|
|
|
NM_001267550.2(TTN):c.43748-20C>T
|
|
|
|
NM_001267550.2(TTN):c.43748-4G>A
|
rs1301078575
|
|
|
NM_001267550.2(TTN):c.43750G>T (p.Gly14584Ter)
|
rs2154220286
|
|
|
NM_001267550.2(TTN):c.43752A>G (p.Gly14584=)
|
|
|
|
NM_001267550.2(TTN):c.43761T>C (p.Tyr14587=)
|
rs397517574
|
|
|
NM_001267550.2(TTN):c.43777dup (p.Gln14593fs)
|
|
|
|
NM_001267550.2(TTN):c.43788T>G (p.Thr14596=)
|
rs2154220279
|
|
|
NM_001267550.2(TTN):c.43794A>C (p.Val14598=)
|
|
|
|
NM_001267550.2(TTN):c.43812T>C (p.Ile14604=)
|
rs2154220272
|
|
|
NM_001267550.2(TTN):c.43818G>A (p.Gln14606=)
|
|
|
|
NM_001267550.2(TTN):c.43830C>T (p.Ser14610=)
|
rs2154220267
|
|
|
NM_001267550.2(TTN):c.43839T>C (p.Asp14613=)
|
|
|
|
NM_001267550.2(TTN):c.43848G>T (p.Val14616=)
|
rs2154220258
|
|
|
NM_001267550.2(TTN):c.4385_4386delinsG (p.Lys1462fs)
|
rs2092387027
|
|
|
NM_001267550.2(TTN):c.43861del (p.Asp14621fs)
|
|
|
|
NM_001267550.2(TTN):c.43905A>C (p.Ala14635=)
|
rs886042449
|
|
|
NM_001267550.2(TTN):c.43911C>T (p.Gly14637=)
|
|
|
|
NM_001267550.2(TTN):c.43913A>G (p.Lys14638Arg)
|
rs878896650
|
|
|
NM_001267550.2(TTN):c.43947A>G (p.Lys14649=)
|
rs2059746365
|
|
|
NM_001267550.2(TTN):c.43953T>C (p.Asp14651=)
|
|
|
|
NM_001267550.2(TTN):c.43956T>C (p.Ile14652=)
|
|
|
|
NM_001267550.2(TTN):c.43965C>T (p.Tyr14655=)
|
|
|
|
NM_001267550.2(TTN):c.43974C>T (p.Asp14658=)
|
|
|
|
NM_001267550.2(TTN):c.43980G>A (p.Gly14660=)
|
rs578020185
|
|
|
NM_001267550.2(TTN):c.44004T>C (p.Leu14668=)
|
rs1309317594
|
|
|
NM_001267550.2(TTN):c.44014+11T>C
|
rs1157212859
|
|
|
NM_001267550.2(TTN):c.44014+16dup
|
|
|
|
NM_001267550.2(TTN):c.44014+17G>A
|
|
|
|
NM_001267550.2(TTN):c.44014+9A>T
|
rs1384626629
|
|
|
NM_001267550.2(TTN):c.44015-14C>T
|
|
|
|
NM_001267550.2(TTN):c.44015-20C>T
|
|
|
|
NM_001267550.2(TTN):c.44015-6T>C
|
|
|
|
NM_001267550.2(TTN):c.44025T>A (p.Ile14675=)
|
|
|
|
NM_001267550.2(TTN):c.44028A>G (p.Lys14676=)
|
|
|
|
NM_001267550.2(TTN):c.44031G>C (p.Leu14677=)
|
|
|
|
NM_001267550.2(TTN):c.44034G>A (p.Val14678=)
|
|
|
|
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter)
|
rs776970935
|
|
|
NM_001267550.2(TTN):c.44043G>A (p.Leu14681=)
|
rs1399298498
|
|
|
NM_001267550.2(TTN):c.44043G>C (p.Leu14681=)
|
rs1399298498
|
|
|
NM_001267550.2(TTN):c.44082T>C (p.Phe14694=)
|
rs1576671359
|
|
|
NM_001267550.2(TTN):c.44088C>G (p.Thr14696=)
|
rs749706106
|
|
|
NM_001267550.2(TTN):c.44088C>T (p.Thr14696=)
|
rs749706106
|
|
|
NM_001267550.2(TTN):c.44109C>T (p.Ile14703=)
|
|
|
|
NM_001267550.2(TTN):c.4413G>A (p.Gly1471=)
|
rs2092384042
|
|
|
NM_001267550.2(TTN):c.4413del (p.Gln1472fs)
|
rs2092384255
|
|
|
NM_001267550.2(TTN):c.44145C>T (p.Leu14715=)
|
|
|
|
NM_001267550.2(TTN):c.44154+10T>C
|
rs2059708087
|
|
|
NM_001267550.2(TTN):c.44154+18C>T
|
|
|
|
NM_001267550.2(TTN):c.44154+1G>C
|
|
|
|
NM_001267550.2(TTN):c.44154+4A>T
|
rs1576670482
|
|
|
NM_001267550.2(TTN):c.44154+5G>A
|
rs2154220094
|
|
|
NM_001267550.2(TTN):c.44155-10G>C
|
rs1044877599
|
|
|
NM_001267550.2(TTN):c.44155-20T>C
|
|
|
|
NM_001267550.2(TTN):c.44155-4A>C
|
|
|
|
NM_001267550.2(TTN):c.44155-6G>T
|
rs2154219935
|
|
|
NM_001267550.2(TTN):c.4416A>G (p.Gln1472=)
|
|
|
|
NM_001267550.2(TTN):c.44175A>G (p.Glu14725=)
|
rs2154219926
|
|
|
NM_001267550.2(TTN):c.44184A>G (p.Ile14728Met)
|
rs572315033
|
|
|
NM_001267550.2(TTN):c.44191C>T (p.Leu14731Phe)
|
rs771361227
|
|
|
NM_001267550.2(TTN):c.44193T>G (p.Leu14731=)
|
rs1576665318
|
|
|
NM_001267550.2(TTN):c.44197T>C (p.Leu14733=)
|
rs2059643840
|
|
|
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)
|
rs373298007
|
|
|
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu)
|
rs373298007
|
|
|
NM_001267550.2(TTN):c.44223G>C (p.Thr14741=)
|
rs368830196
|
|
|
NM_001267550.2(TTN):c.44247del (p.Asn14750fs)
|
rs2059639706
|
|
|
NM_001267550.2(TTN):c.44249del (p.Asn14750fs)
|
rs2154219900
|
|
|
NM_001267550.2(TTN):c.44281+18T>C
|
|
|
|
NM_001267550.2(TTN):c.44281+19dup
|
rs770306737
|
|
|
NM_001267550.2(TTN):c.44281+1G>A
|
rs771562210
|
|
|
NM_001267550.2(TTN):c.44281+1del
|
|
|
|
NM_001267550.2(TTN):c.44281+2dup
|
rs773570018
|
|
|
NM_001267550.2(TTN):c.44281+5G>A
|
rs2059634223
|
|
|
NM_001267550.2(TTN):c.44282-12C>G
|
|
|
|
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter)
|
rs770767998
|
|
|
NM_001267550.2(TTN):c.44285G>C (p.Arg14762Pro)
|
rs727505019
|
|
|
NM_001267550.2(TTN):c.44289_44290del (p.Ile14764fs)
|
rs2059501959
|
|
|
NM_001267550.2(TTN):c.44292T>C (p.Ile14764=)
|
rs2154219455
|
|
|
NM_001267550.2(TTN):c.44294dup (p.Leu14766fs)
|
|
|
|
NM_001267550.2(TTN):c.44322C>T (p.Thr14774=)
|
rs573695669
|
|
|
NM_001267550.2(TTN):c.44331A>G (p.Ala14777=)
|
rs1316025017
|
|
|
NM_001267550.2(TTN):c.44335G>C (p.Glu14779Gln)
|
rs1262894259
|
|
|
NM_001267550.2(TTN):c.44343C>G (p.Ala14781=)
|
rs2154219431
|
|
|
NM_001267550.2(TTN):c.44343C>T (p.Ala14781=)
|
|
|
|
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs)
|
rs397517576
|
|
|
NM_001267550.2(TTN):c.44373T>C (p.Asp14791=)
|
rs772552324
|
|
|
NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn)
|
rs747654057
|
|
|
NM_001267550.2(TTN):c.44378del (p.Pro14793fs)
|
rs1064796121
|
|
|
NM_001267550.2(TTN):c.44400del (p.Lys14801fs)
|
rs727503628
|
|
|
NM_001267550.2(TTN):c.44404_44424+8del
|
rs2154219379
|
|
|
NM_001267550.2(TTN):c.44413C>G (p.Pro14805Ala)
|
rs753926213
|
|
|
NM_001267550.2(TTN):c.44415dup (p.Ser14806fs)
|
rs2154219387
|
|
|
NM_001267550.2(TTN):c.44424+10A>G
|
|
|
|
NM_001267550.2(TTN):c.44424+16G>T
|
|
|
|
NM_001267550.2(TTN):c.44424+20T>C
|
|
|
|
NM_001267550.2(TTN):c.44425-13dup
|
rs776119628
|
|
|
NM_001267550.2(TTN):c.44425-19T>C
|
|
|
|
NM_001267550.2(TTN):c.44425-20C>A
|
|
|
|
NM_001267550.2(TTN):c.44425-8A>C
|
rs1576608720
|
|
|
NM_001267550.2(TTN):c.44427G>A (p.Val14809=)
|
|
|
|
NM_001267550.2(TTN):c.44438C>G (p.Ser14813Ter)
|
|
|
|
NM_001267550.2(TTN):c.44442A>G (p.Glu14814=)
|
|
|
|
NM_001267550.2(TTN):c.44445A>G (p.Gly14815=)
|
|
|
|
NM_001267550.2(TTN):c.44454T>C (p.His14818=)
|
|
|
|
NM_001267550.2(TTN):c.4446T>C (p.Gly1482=)
|
|
|
|
NM_001267550.2(TTN):c.44472T>G (p.Asp14824Glu)
|
rs377441854
|
|
|
NM_001267550.2(TTN):c.44475A>C (p.Val14825=)
|
rs1576607946
|
|
|
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del)
|
rs727505315
|
|
|
NM_001267550.2(TTN):c.44490T>C (p.Ala14830=)
|
rs1060503932
|
|
|
NM_001267550.2(TTN):c.44494del (p.Glu14832fs)
|
rs1553725355
|
|
|
NM_001267550.2(TTN):c.44517T>C (p.Asp14839=)
|
rs1025034041
|
|
|
NM_001267550.2(TTN):c.44537del (p.Leu14846fs)
|
rs2058861849
|
|
|
NM_001267550.2(TTN):c.44540_44541del (p.Phe14847fs)
|
|
|
|
NM_001267550.2(TTN):c.44548+17T>C
|
|
|
|
NM_001267550.2(TTN):c.44548+20del
|
|
|
|
NM_001267550.2(TTN):c.44549-15G>A
|
|
|
|
NM_001267550.2(TTN):c.44549-16A>C
|
rs908331677
|
|
|
NM_001267550.2(TTN):c.44549-18T>C
|
|
|
|
NM_001267550.2(TTN):c.44549-22_44549-20dup
|
|
|
|
NM_001267550.2(TTN):c.44556A>C (p.Pro14852=)
|
|
|
|
NM_001267550.2(TTN):c.44580G>C (p.Glu14860Asp)
|
rs1060500475
|
|
|
NM_001267550.2(TTN):c.44584C>T (p.Gln14862Ter)
|
|
|
|
NM_001267550.2(TTN):c.4458A>G (p.Pro1486=)
|
rs2154346768
|
|
|
NM_001267550.2(TTN):c.44592C>G (p.Val14864=)
|
rs397517578
|
|
|
NM_001267550.2(TTN):c.44603_44633del (p.Ala14868fs)
|
|
|
|
NM_001267550.2(TTN):c.44616G>A (p.Leu14872=)
|
|
|
|
NM_001267550.2(TTN):c.4461G>A (p.Glu1487=)
|
rs1574678821
|
|
|
NM_001267550.2(TTN):c.44643T>C (p.Ala14881=)
|
|
|
|
NM_001267550.2(TTN):c.4464G>A (p.Thr1488=)
|
rs1287524221
|
|
|
NM_001267550.2(TTN):c.44664T>C (p.Asn14888=)
|
rs2058758077
|
|
|
NM_001267550.2(TTN):c.44667G>A (p.Gly14889=)
|
rs746287950
|
|
|
NM_001267550.2(TTN):c.44683del (p.Ser14895fs)
|
rs886044263
|
|
|
NM_001267550.2(TTN):c.44700T>C (p.Ile14900=)
|
|
|
|
NM_001267550.2(TTN):c.44709T>C (p.Asp14903=)
|
|
|
|
NM_001267550.2(TTN):c.44712C>T (p.Gly14904=)
|
|
|
|
NM_001267550.2(TTN):c.44733A>T (p.Ile14911=)
|
rs751425454
|
|
|
NM_001267550.2(TTN):c.44736T>A (p.His14912Gln)
|
rs762830792
|
|
|
NM_001267550.2(TTN):c.44743A>G (p.Thr14915Ala)
|
rs878854310
|
|
|
NM_001267550.2(TTN):c.44745C>A (p.Thr14915=)
|
rs762145326
|
|
|
NM_001267550.2(TTN):c.44745C>T (p.Thr14915=)
|
|
|
|
NM_001267550.2(TTN):c.44778T>C (p.Ala14926=)
|
|
|
|
NM_001267550.2(TTN):c.44790G>A (p.Lys14930=)
|
rs886042667
|
|
|
NM_001267550.2(TTN):c.4480+14G>A
|
rs2154346741
|
|
|
NM_001267550.2(TTN):c.4480+1G>A
|
rs766581255
|
|
|
NM_001267550.2(TTN):c.4480+1G>T
|
rs766581255
|
|
|
NM_001267550.2(TTN):c.4480+7G>A
|
rs1554009657
|
|
|
NM_001267550.2(TTN):c.44803C>T (p.Leu14935=)
|
|
|
|
NM_001267550.2(TTN):c.4480G>T (p.Gly1494Cys)
|
|
|
|
NM_001267550.2(TTN):c.4481-16A>C
|
rs1364656520
|
|
|
NM_001267550.2(TTN):c.4481-18T>C
|
rs2154346676
|
|
|
NM_001267550.2(TTN):c.44815+13_44815+15del
|
|
|
|
NM_001267550.2(TTN):c.44815+14T>C
|
rs2058737403
|
|
|
NM_001267550.2(TTN):c.44815+19A>C
|
|
|
|
NM_001267550.2(TTN):c.44815+1G>A
|
rs1274007753
|
|
|
NM_001267550.2(TTN):c.44815+2_44815+3insTT
|
rs786205392
|
|
|
NM_001267550.2(TTN):c.44816-15G>T
|
|
|
|
NM_001267550.2(TTN):c.44816-16T>C
|
|
|
|
NM_001267550.2(TTN):c.4482C>T (p.Gly1494=)
|
|
|
|
NM_001267550.2(TTN):c.44850C>A (p.Asp14950Glu)
|
rs371376631
|
|
|
NM_001267550.2(TTN):c.44850C>T (p.Asp14950=)
|
|
|
|
NM_001267550.2(TTN):c.44854C>T (p.Gln14952Ter)
|
rs2154213117
|
|
|
NM_001267550.2(TTN):c.44869G>T (p.Glu14957Ter)
|
|
|
|
NM_001267550.2(TTN):c.44878C>T (p.Arg14960Ter)
|
rs2058478213
|
|
|
NM_001267550.2(TTN):c.4487_4488insT (p.Gln1496fs)
|
rs1554009454
|
|
|
NM_001267550.2(TTN):c.44889_44890dup (p.Glu14964fs)
|
rs2154213095
|
|
|
NM_001267550.2(TTN):c.44906del (p.Asn14969fs)
|
|
|
|
NM_001267550.2(TTN):c.44913+10dup
|
rs745700983
|
|
|
NM_001267550.2(TTN):c.44913+11_44913+13dup
|
|
|
|
NM_001267550.2(TTN):c.44913+1G>T
|
rs1553721106
|
|
|
NM_001267550.2(TTN):c.44913G>C (p.Lys14971Asn)
|
rs757693661
|
|
|
NM_001267550.2(TTN):c.44914-7A>T
|
|
|
|
NM_001267550.2(TTN):c.44931T>C (p.Asp14977=)
|
rs1253945810
|
|
|
NM_001267550.2(TTN):c.44937T>C (p.Ala14979=)
|
rs370413913
|
|
|
NM_001267550.2(TTN):c.44937T>G (p.Ala14979=)
|
rs370413913
|
|
|
NM_001267550.2(TTN):c.44943T>C (p.Ile14981=)
|
rs2058359486
|
|
|
NM_001267550.2(TTN):c.44952C>A (p.Gly14984=)
|
|
|
|
NM_001267550.2(TTN):c.44964C>T (p.Asp14988=)
|
rs2154212467
|
|
|
NM_001267550.2(TTN):c.44969del (p.Ile14990fs)
|
rs2154212465
|
|
|
NM_001267550.2(TTN):c.44993T>C (p.Leu14998Pro)
|
rs1553719829
|
|
|
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His)
|
rs373109469
|
|
|
NM_001267550.2(TTN):c.45006A>G (p.Lys15002=)
|
|
|
|
NM_001267550.2(TTN):c.45052G>C (p.Ala15018Pro)
|
rs1060500472
|
|
|
NM_001267550.2(TTN):c.45053C>A (p.Ala15018Glu)
|
rs72677221
|
|
|
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val)
|
rs72677221
|
|
|
NM_001267550.2(TTN):c.45055A>T (p.Arg15019Ter)
|
rs2154212373
|
|
|
NM_001267550.2(TTN):c.4506C>A (p.Thr1502=)
|
|
|
|
NM_001267550.2(TTN):c.45082+14C>T
|
|
|
|
NM_001267550.2(TTN):c.45082+16T>C
|
|
|
|
NM_001267550.2(TTN):c.45082+4A>T
|
|
|
|
NM_001267550.2(TTN):c.45082+5G>A
|
rs2058337645
|
|
|
NM_001267550.2(TTN):c.45082+8T>A
|
rs2058334835
|
|
|
NM_001267550.2(TTN):c.45082+9A>G
|
rs2154212317
|
|
|
NM_001267550.2(TTN):c.45083-11A>G
|
|
|
|
NM_001267550.2(TTN):c.45083-13T>C
|
|
|
|
NM_001267550.2(TTN):c.45083-18T>G
|
rs2154212232
|
|
|
NM_001267550.2(TTN):c.45083-19G>T
|
|
|
|
NM_001267550.2(TTN):c.45083-19_45083-15del
|
rs781409618
|
|
|
NM_001267550.2(TTN):c.45083-1G>A
|
|
|
|
NM_001267550.2(TTN):c.45083-20T>C
|
|
|
|
NM_001267550.2(TTN):c.45083-9T>C
|
rs1576565439
|
|
|
NM_001267550.2(TTN):c.45090del (p.Ala15031fs)
|
|
|
|
NM_001267550.2(TTN):c.45100dup (p.Thr15034fs)
|
rs2154212181
|
|
|
NM_001267550.2(TTN):c.45120T>C (p.Ile15040=)
|
rs74580375
|
|
|
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met)
|
rs74580375
|
|
|
NM_001267550.2(TTN):c.45135A>G (p.Thr15045=)
|
rs2154212161
|
|
|
NM_001267550.2(TTN):c.45141T>C (p.Thr15047=)
|
|
|
|
NM_001267550.2(TTN):c.45156T>A (p.Cys15052Ter)
|
rs1060500487
|
|
|
NM_001267550.2(TTN):c.45174C>A (p.Gly15058=)
|
rs372609980
|
|
|
NM_001267550.2(TTN):c.45192del (p.Trp15063_Tyr15064insTer)
|
rs1553718908
|
|
|
NM_001267550.2(TTN):c.45204G>A (p.Glu15068=)
|
rs1177639165
|
|
|
NM_001267550.2(TTN):c.45216A>G (p.Glu15072=)
|
rs2154212088
|
|
|
NM_001267550.2(TTN):c.45221del (p.Gly15074fs)
|
rs2058288753
|
|
|
NM_001267550.2(TTN):c.45240T>A (p.Thr15080=)
|
rs2154212069
|
|
|
NM_001267550.2(TTN):c.45247C>A (p.Arg15083=)
|
|
|
|
NM_001267550.2(TTN):c.45258C>T (p.Ile15086=)
|
|
|
|
NM_001267550.2(TTN):c.45279C>T (p.His15093=)
|
rs775159704
|
|
|
NM_001267550.2(TTN):c.4527A>G (p.Glu1509=)
|
rs2154346647
|
|
|
NM_001267550.2(TTN):c.45300C>T (p.Tyr15100=)
|
|
|
|
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs)
|
rs794729390
|
|
|
NM_001267550.2(TTN):c.4533T>C (p.Gly1511=)
|
|
|
|
NM_001267550.2(TTN):c.45349+13_45349+14del
|
|
|
|
NM_001267550.2(TTN):c.45349+1G>A
|
rs2154211977
|
|
|
NM_001267550.2(TTN):c.45349+1G>T
|
|
|
|
NM_001267550.2(TTN):c.45349+3A>G
|
rs1553718424
|
|
|
NM_001267550.2(TTN):c.45350-12T>C
|
|
|
|
NM_001267550.2(TTN):c.45350-18G>T
|
|
|
|
NM_001267550.2(TTN):c.45350-1G>C
|
rs2058237051
|
|
|
NM_001267550.2(TTN):c.45350-20T>C
|
|
|
|
NM_001267550.2(TTN):c.45351A>G (p.Glu15117=)
|
|
|
|
NM_001267550.2(TTN):c.45355del (p.Ala15119fs)
|
|
|
|
NM_001267550.2(TTN):c.45372A>G (p.Ser15124=)
|
|
|
|
NM_001267550.2(TTN):c.4537C>T (p.Gln1513Ter)
|
rs2092360420
|
|
|
NM_001267550.2(TTN):c.45381A>G (p.Gln15127=)
|
rs2058234369
|
|
|
NM_001267550.2(TTN):c.45383del (p.Asn15128fs)
|
|
|
|
NM_001267550.2(TTN):c.4539A>G (p.Gln1513=)
|
rs2092360060
|
|
|
NM_001267550.2(TTN):c.45423C>T (p.Cys15141=)
|
rs879023017
|
|
|
NM_001267550.2(TTN):c.45431C>A (p.Ser15144Ter)
|
|
|
|
NM_001267550.2(TTN):c.45435A>G (p.Lys15145=)
|
|
|
|
NM_001267550.2(TTN):c.4543C>T (p.Leu1515=)
|
rs1465910141
|
|
|
NM_001267550.2(TTN):c.45449T>G (p.Val15150Gly)
|
rs1060500496
|
|
|
NM_001267550.2(TTN):c.45459del (p.Arg15154fs)
|
|
|
|
NM_001267550.2(TTN):c.45477T>G (p.Leu15159=)
|
|
|
|
NM_001267550.2(TTN):c.45483_45495del (p.Gly15162fs)
|
|
|
|
NM_001267550.2(TTN):c.4548T>A (p.Ile1516=)
|
|
|
|
NM_001267550.2(TTN):c.45495T>G (p.Tyr15165Ter)
|
|
|
|
NM_001267550.2(TTN):c.45510T>C (p.Asp15170=)
|
|
|
|
NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter)
|
rs1559877046
|
|
|
NM_001267550.2(TTN):c.45547T>C (p.Leu15183=)
|
|
|
|
NM_001267550.2(TTN):c.45555T>C (p.Asp15185=)
|
|
|
|
NM_001267550.2(TTN):c.45564_45567dup (p.Val15190fs)
|
rs2154211664
|
|
|
NM_001267550.2(TTN):c.4557T>C (p.Pro1519=)
|
rs1574674675
|
|
|
NM_001267550.2(TTN):c.45583del (p.Ala15195fs)
|
rs2154211651
|
|
|
NM_001267550.2(TTN):c.45588C>T (p.Ala15196=)
|
|
|
|
NM_001267550.2(TTN):c.45601C>G (p.His15201Asp)
|
rs794729438
|
|
|
NM_001267550.2(TTN):c.45602_45605del (p.His15201fs)
|
|
|
|
NM_001267550.2(TTN):c.45610_45613dup (p.Ile15205fs)
|
rs2058205143
|
|
|
NM_001267550.2(TTN):c.45616+10T>C
|
|
|
|
NM_001267550.2(TTN):c.45616+11T>A
|
|
|
|
NM_001267550.2(TTN):c.45616+16C>G
|
rs556605702
|
|
|
NM_001267550.2(TTN):c.45616+18T>C
|
rs2154211592
|
|
|
NM_001267550.2(TTN):c.45616+20T>A
|
|
|
|
NM_001267550.2(TTN):c.45616+3_45616+6dup
|
rs1373938186
|
|
|
NM_001267550.2(TTN):c.45617-14T>G
|
|
|
|
NM_001267550.2(TTN):c.45617-15G>A
|
|
|
|
NM_001267550.2(TTN):c.45617-8G>A
|
|
|
|
NM_001267550.2(TTN):c.4563A>T (p.Thr1521=)
|
|
|
|
NM_001267550.2(TTN):c.45657G>A (p.Val15219=)
|
rs1475354606
|
|
|
NM_001267550.2(TTN):c.45667C>T (p.Gln15223Ter)
|
|
|
|
NM_001267550.2(TTN):c.45674_45675del (p.Val15225fs)
|
rs1232518763
|
|
|
NM_001267550.2(TTN):c.45693C>T (p.Val15231=)
|
rs2154211444
|
|
|
NM_001267550.2(TTN):c.45708C>T (p.Ala15236=)
|
rs760790889
|
|
|
NM_001267550.2(TTN):c.45719G>A (p.Trp15240Ter)
|
rs2058162241
|
|
|
NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)
|
|
|
|
NM_001267550.2(TTN):c.45730G>T (p.Glu15244Ter)
|
rs2058161147
|
|
|
NM_001267550.2(TTN):c.45737C>T (p.Ala15246Val)
|
rs370233278
|
|
|
NM_001267550.2(TTN):c.4575T>C (p.Ser1525=)
|
|
|
|
NM_001267550.2(TTN):c.45765T>C (p.Ile15255=)
|
|
|
|
NM_001267550.2(TTN):c.45769C>T (p.Gln15257Ter)
|
rs2154211378
|
|
|
NM_001267550.2(TTN):c.45787_45793del (p.Thr15263fs)
|
|
|
|
NM_001267550.2(TTN):c.45792C>G (p.Leu15264=)
|
rs754067884
|
|
|
NM_001267550.2(TTN):c.45798T>C (p.Ile15266=)
|
|
|
|
NM_001267550.2(TTN):c.45809_45810del (p.His15270fs)
|
rs2154211339
|
|
|
NM_001267550.2(TTN):c.45814del (p.Asp15272fs)
|
rs1576550450
|
|
|
NM_001267550.2(TTN):c.45837_45838del (p.Ser15280fs)
|
rs2058146182
|
|
|
NM_001267550.2(TTN):c.45852_45853del (p.His15284fs)
|
rs1266824761
|
|
|
NM_001267550.2(TTN):c.45870A>G (p.Lys15290=)
|
rs562309540
|
|
|
NM_001267550.2(TTN):c.45895+15T>C
|
|
|
|
NM_001267550.2(TTN):c.45895+17C>A
|
|
|
|
NM_001267550.2(TTN):c.45895+17C>T
|
rs1559872244
|
|
|
NM_001267550.2(TTN):c.45895+1G>T
|
rs727504589
|
|
|
NM_001267550.2(TTN):c.45895+20C>T
|
rs2154211234
|
|
|
NM_001267550.2(TTN):c.45895+5G>C
|
rs1206842325
|
|
|
NM_001267550.2(TTN):c.45895+9T>C
|
rs897474129
|
|
|
NM_001267550.2(TTN):c.45896-11del
|
|
|
|
NM_001267550.2(TTN):c.45896-19T>A
|
rs1359624569
|
|
|
NM_001267550.2(TTN):c.45896-20A>G
|
|
|
|
NM_001267550.2(TTN):c.45909G>A (p.Arg15303=)
|
|
|
|
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs)
|
rs1131691910
|
|
|
NM_001267550.2(TTN):c.45940A>T (p.Met15314Leu)
|
rs1391292606
|
|
|
NM_001267550.2(TTN):c.45954T>C (p.Ser15318=)
|
|
|
|
NM_001267550.2(TTN):c.45978T>C (p.Asn15326=)
|
rs1576547094
|
|
|
NM_001267550.2(TTN):c.45989dup (p.Thr15331fs)
|
rs1553715911
|
|
|
NM_001267550.2(TTN):c.46017dup (p.Glu15340fs)
|
|
|
|
NM_001267550.2(TTN):c.46023G>A (p.Val15341=)
|
|
|
|
NM_001267550.2(TTN):c.46053T>G (p.Val15351=)
|
|
|
|
NM_001267550.2(TTN):c.46061A>G (p.Tyr15354Cys)
|
rs886038861
|
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
|
NM_001267550.2(TTN):c.46078_46092del (p.Ile15360_Gly15364del)
|
rs727505075
|
|
|
NM_001267550.2(TTN):c.46092C>A (p.Gly15364=)
|
rs1469653601
|
|
|
NM_001267550.2(TTN):c.46095C>T (p.Phe15365=)
|
rs2058091272
|
|
|
NM_001267550.2(TTN):c.46128A>G (p.Gly15376=)
|
rs2154210997
|
|
|
NM_001267550.2(TTN):c.46142T>C (p.Val15381Ala)
|
rs369269320
|
|
|
NM_001267550.2(TTN):c.46155C>A (p.Leu15385=)
|
rs1394331445
|
|
|
NM_001267550.2(TTN):c.46164del (p.Ala15389fs)
|
|
|
|
NM_001267550.2(TTN):c.46170G>A (p.Pro15390=)
|
rs747163190
|
|
|
NM_001267550.2(TTN):c.46188C>T (p.His15396=)
|
|
|
|
NM_001267550.2(TTN):c.46197_46198insGAACCCTT (p.Gln15400fs)
|
|
|
|
NM_001267550.2(TTN):c.46200G>A (p.Gln15400=)
|
|
|
|
NM_001267550.2(TTN):c.46201_46204del (p.Thr15401fs)
|
|
|
|
NM_001267550.2(TTN):c.46205T>C (p.Val15402Ala)
|
rs1559868004
|
|
|
NM_001267550.2(TTN):c.46206C>T (p.Val15402=)
|
|
|
|
NM_001267550.2(TTN):c.46211A>G (p.Glu15404Gly)
|
rs878854311
|
|
|
NM_001267550.2(TTN):c.46215C>T (p.Phe15405=)
|
rs779560487
|
|
|
NM_001267550.2(TTN):c.4621A>G (p.Ile1541Val)
|
rs1060500580
|
|
|
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter)
|
rs368200299
|
|
|
NM_001267550.2(TTN):c.46236C>T (p.Cys15412=)
|
|
|
|
NM_001267550.2(TTN):c.46237C>T (p.Gln15413Ter)
|
|
|
|
NM_001267550.2(TTN):c.4623T>A (p.Ile1541=)
|
|
|
|
NM_001267550.2(TTN):c.46242C>A (p.Leu15414=)
|
|
|
|
NM_001267550.2(TTN):c.46260T>C (p.Asn15420=)
|
|
|
|
NM_001267550.2(TTN):c.46272C>A (p.Tyr15424Ter)
|
rs879139686
|
|
|
NM_001267550.2(TTN):c.46282A>C (p.Arg15428=)
|
rs2154210851
|
|
|
NM_001267550.2(TTN):c.46285G>T (p.Glu15429Ter)
|
rs1576543528
|
|
|
NM_001267550.2(TTN):c.46299C>A (p.Gly15433=)
|
rs1414425479
|
|
|
NM_001267550.2(TTN):c.46299C>G (p.Gly15433=)
|
rs1414425479
|
|
|
NM_001267550.2(TTN):c.462A>G (p.Gln154=)
|
|
|
|
NM_001267550.2(TTN):c.46304+15_46304+16insTA
|
|
|
|
NM_001267550.2(TTN):c.46304+1G>T
|
|
|
|
NM_001267550.2(TTN):c.46304+3A>T
|
rs866285912
|
|
|
NM_001267550.2(TTN):c.46304+5G>A
|
rs398124452
|
|
|
NM_001267550.2(TTN):c.46304+7A>G
|
|
|
|
NM_001267550.2(TTN):c.46305-11G>A
|
rs2154210720
|
|
|
NM_001267550.2(TTN):c.46305-16C>T
|
|
|
|
NM_001267550.2(TTN):c.46305-18A>G
|
|
|
|
NM_001267550.2(TTN):c.46305-1G>C
|
rs1553714845
|
|
|
NM_001267550.2(TTN):c.46305-7C>T
|
|
|
|
NM_001267550.2(TTN):c.46309A>T (p.Lys15437Ter)
|
rs2154210717
|
|
|
NM_001267550.2(TTN):c.46329T>C (p.Ser15443=)
|
rs1232874309
|
|
|
NM_001267550.2(TTN):c.46335_46336del (p.His15445fs)
|
|
|
|
NM_001267550.2(TTN):c.46344_46348dup (p.Lys15450delinsIleTer)
|
|
|
|
NM_001267550.2(TTN):c.46359G>A (p.Arg15453=)
|
rs1553714751
|
|
|
NM_001267550.2(TTN):c.46362G>C (p.Leu15454=)
|
rs964036554
|
|
|
NM_001267550.2(TTN):c.46374_46375dup (p.Glu15459fs)
|
rs2154210696
|
|
|
NM_001267550.2(TTN):c.46380T>C (p.Tyr15460=)
|
|
|
|
NM_001267550.2(TTN):c.46385_46406dup (p.Ala15471fs)
|
|
|
|
NM_001267550.2(TTN):c.46389G>T (p.Gly15463=)
|
|
|
|
NM_001267550.2(TTN):c.46392A>G (p.Val15464=)
|
|
|
|
NM_001267550.2(TTN):c.46397dup (p.Asp15466fs)
|
|
|
|
NM_001267550.2(TTN):c.46399dup (p.Arg15467fs)
|
rs1060500443
|
|
|
NM_001267550.2(TTN):c.46407_46410dup (p.Ala15471fs)
|
rs2058029089
|
|
|
NM_001267550.2(TTN):c.46429+1G>T
|
rs2154210677
|
|
|
NM_001267550.2(TTN):c.46429+20A>G
|
|
|
|
NM_001267550.2(TTN):c.46429+2T>C
|
|
|
|
NM_001267550.2(TTN):c.46429+7A>G
|
|
|
|
NM_001267550.2(TTN):c.46429+8T>C
|
rs1392048853
|
|
|
NM_001267550.2(TTN):c.46429+9T>C
|
|
|
|
NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)
|
|
|
|
NM_001267550.2(TTN):c.46430-14C>T
|
rs369753681
|
|
|
NM_001267550.2(TTN):c.46430-24ATTT[3]
|
|
|
|
NM_001267550.2(TTN):c.46430-2A>G
|
|
|
|
NM_001267550.2(TTN):c.46449C>A (p.Ile15483=)
|
|
|
|
NM_001267550.2(TTN):c.4645+18A>G
|
|
|
|
NM_001267550.2(TTN):c.4645+18A>T
|
|
|
|
NM_001267550.2(TTN):c.4645+8G>A
|
|
|
|
NM_001267550.2(TTN):c.4645+9A>G
|
|
|
|
NM_001267550.2(TTN):c.46459C>T (p.Gln15487Ter)
|
rs2058001839
|
|
|
NM_001267550.2(TTN):c.4646-14C>T
|
|
|
|
NM_001267550.2(TTN):c.4646-18A>G
|
rs779819518
|
|
|
NM_001267550.2(TTN):c.4646-5T>A
|
rs750400475
|
|
|
NM_001267550.2(TTN):c.46461A>G (p.Gln15487=)
|
rs2154210608
|
|
|
NM_001267550.2(TTN):c.46473A>G (p.Glu15491=)
|
|
|
|
NM_001267550.2(TTN):c.46483G>A (p.Ala15495Thr)
|
rs537428006
|
|
|
NM_001267550.2(TTN):c.46488T>C (p.Asp15496=)
|
rs1576537611
|
|
|
NM_001267550.2(TTN):c.46503A>G (p.Ala15501=)
|
|
|
|
NM_001267550.2(TTN):c.46514_46517dup (p.Asp15506fs)
|
|
|
|
NM_001267550.2(TTN):c.4651G>A (p.Glu1551Lys)
|
rs762008835
|
|
|
NM_001267550.2(TTN):c.46530C>A (p.Val15510=)
|
rs879227690
|
|
|
NM_001267550.2(TTN):c.46533A>G (p.Gln15511=)
|
|
|
|
NM_001267550.2(TTN):c.46550T>C (p.Met15517Thr)
|
rs1349699547
|
|
|
NM_001267550.2(TTN):c.46565del (p.Gly15522fs)
|
rs2057989087
|
|
|
NM_001267550.2(TTN):c.46569T>A (p.Asp15523Glu)
|
rs1553713980
|
|
|
NM_001267550.2(TTN):c.46569T>C (p.Asp15523=)
|
rs1553713980
|
|
|
NM_001267550.2(TTN):c.46590A>G (p.Glu15530=)
|
rs1559861805
|
|
|
NM_001267550.2(TTN):c.46596G>A (p.Lys15532=)
|
|
|
|
NM_001267550.2(TTN):c.465A>G (p.Glu155=)
|
|
|
|
NM_001267550.2(TTN):c.46602T>C (p.His15534=)
|
|
|
|
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter)
|
rs764654357
|
|
|
NM_001267550.2(TTN):c.46609C>T (p.Gln15537Ter)
|
rs1131691528
|
|
|
NM_001267550.2(TTN):c.46623del (p.Lys15542fs)
|
|
|
|
NM_001267550.2(TTN):c.46639_46643dup (p.Tyr15549fs)
|
|
|
|
NM_001267550.2(TTN):c.46653_46656dup (p.Ala15553fs)
|
rs2154210554
|
|
|
NM_001267550.2(TTN):c.46659C>G (p.Ala15553=)
|
rs876657606
|
|
|
NM_001267550.2(TTN):c.46668_46671del (p.Glu15557fs)
|
|
|
|
NM_001267550.2(TTN):c.46674C>G (p.Ala15558=)
|
rs2154210546
|
|
|
NM_001267550.2(TTN):c.46686T>C (p.Leu15562=)
|
rs2154210539
|
|
|
NM_001267550.2(TTN):c.46690C>T (p.Leu15564=)
|
|
|
|
NM_001267550.2(TTN):c.46696+1G>T
|
rs1064796987
|
|
|
NM_001267550.2(TTN):c.46696+4A>G
|
rs1553713646
|
|
|
NM_001267550.2(TTN):c.46696+7C>A
|
rs2057968229
|
|
|
NM_001267550.2(TTN):c.46697-10_46697-7del
|
rs1576523012
|
|
|
NM_001267550.2(TTN):c.46697-13T>C
|
|
|
|
NM_001267550.2(TTN):c.46697-14A>G
|
rs371310030
|
|
|
NM_001267550.2(TTN):c.46697-14_46697-13del
|
|
|
|
NM_001267550.2(TTN):c.46697-17G>A
|
|
|
|
NM_001267550.2(TTN):c.46697-1G>T
|
rs2154209955
|
|
|
NM_001267550.2(TTN):c.46723C>T (p.Gln15575Ter)
|
|
|
|
NM_001267550.2(TTN):c.46724_46725delinsC (p.Gln15575fs)
|
rs1559855146
|
|
|
NM_001267550.2(TTN):c.46732G>C (p.Val15578Leu)
|
rs1553712552
|
|
|
NM_001267550.2(TTN):c.46736_46745del (p.Val15579fs)
|
|
|
|
NM_001267550.2(TTN):c.46740T>C (p.Asp15580=)
|
rs2154209930
|
|
|
NM_001267550.2(TTN):c.46753_46754del (p.Leu15585fs)
|
rs2154209917
|
|
|
NM_001267550.2(TTN):c.46767G>A (p.Val15589=)
|
|
|
|
NM_001267550.2(TTN):c.46770A>G (p.Pro15590=)
|
|
|
|
NM_001267550.2(TTN):c.46779C>T (p.Ala15593=)
|
rs1206473213
|
|
|
NM_001267550.2(TTN):c.46788del (p.Ala15597fs)
|
rs2154209882
|
|
|
NM_001267550.2(TTN):c.46803G>A (p.Trp15601Ter)
|
rs1576521473
|
|
|
NM_001267550.2(TTN):c.46810G>T (p.Glu15604Ter)
|
rs749463044
|
|
|
NM_001267550.2(TTN):c.46810_46814del (p.Lys15603_Glu15604insTer)
|
|
|
|
NM_001267550.2(TTN):c.46816G>T (p.Glu15606Ter)
|
|
|
|
NM_001267550.2(TTN):c.46818A>G (p.Glu15606=)
|
|
|
|
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser)
|
rs397517588
|
|
|
NM_001267550.2(TTN):c.46823del (p.Leu15608fs)
|
rs2154209855
|
|
|
NM_001267550.2(TTN):c.46824A>G (p.Leu15608=)
|
|
|
|
NM_001267550.2(TTN):c.46831_46837dup (p.Ile15613fs)
|
|
|
|
NM_001267550.2(TTN):c.46842T>C (p.Asp15614=)
|
|
|
|
NM_001267550.2(TTN):c.46843dup (p.Thr15615fs)
|
rs1553712292
|
|
|
NM_001267550.2(TTN):c.46848G>A (p.Thr15616=)
|
|
|
|
NM_001267550.2(TTN):c.46848G>T (p.Thr15616=)
|
rs766610061
|
|
|
NM_001267550.2(TTN):c.46865del (p.Phe15622fs)
|
|
|
|
NM_001267550.2(TTN):c.46869A>G (p.Arg15623=)
|
|
|
|
NM_001267550.2(TTN):c.4686G>T (p.Leu1562=)
|
rs2154346540
|
|
|
NM_001267550.2(TTN):c.46872T>C (p.Ile15624=)
|
rs2154209806
|
|
|
NM_001267550.2(TTN):c.46895_46898del (p.Lys15632fs)
|
rs1553712148
|
|
|
NM_001267550.2(TTN):c.468C>T (p.Gly156=)
|
|
|
|
NM_001267550.2(TTN):c.46939G>T (p.Glu15647Ter)
|
|
|
|
NM_001267550.2(TTN):c.46941A>G (p.Glu15647=)
|
rs2154209766
|
|
|
NM_001267550.2(TTN):c.46943G>A (p.Gly15648Glu)
|
rs1060500413
|
|
|
NM_001267550.2(TTN):c.46966+10T>A
|
rs1559852271
|
|
|
NM_001267550.2(TTN):c.46966+13G>A
|
|
|
|
NM_001267550.2(TTN):c.46966+1G>A
|
|
|
|
NM_001267550.2(TTN):c.46966+8C>A
|
rs2154209732
|
|
|
NM_001267550.2(TTN):c.46966G>A (p.Asp15656Asn)
|
rs727504572
|
|
|
NM_001267550.2(TTN):c.46967-12T>C
|
rs2154209612
|
|
|
NM_001267550.2(TTN):c.46967-16T>C
|
|
|
|
NM_001267550.2(TTN):c.46980A>G (p.Pro15660=)
|
|
|
|
NM_001267550.2(TTN):c.46986dup (p.Asn15663Ter)
|
rs2154209578
|
|
|
NM_001267550.2(TTN):c.46989C>T (p.Asn15663=)
|
rs2154209574
|
|
|
NM_001267550.2(TTN):c.46990T>C (p.Leu15664=)
|
|
|
|
NM_001267550.2(TTN):c.46998G>C (p.Val15666=)
|
|
|
|
NM_001267550.2(TTN):c.47013T>C (p.Asp15671=)
|
rs1553711771
|
|
|
NM_001267550.2(TTN):c.47040del (p.Glu15680fs)
|
rs2057734561
|
|
|
NM_001267550.2(TTN):c.47052T>C (p.Asp15684=)
|
|
|
|
NM_001267550.2(TTN):c.47055T>C (p.Gly15685=)
|
rs2154209546
|
|
|
NM_001267550.2(TTN):c.47070A>C (p.Ile15690=)
|
|
|
|
NM_001267550.2(TTN):c.47076C>T (p.Tyr15692=)
|
|
|
|
NM_001267550.2(TTN):c.47103A>G (p.Arg15701=)
|
|
|
|
NM_001267550.2(TTN):c.47109C>T (p.Thr15703=)
|
rs1576516524
|
|
|
NM_001267550.2(TTN):c.47112G>A (p.Trp15704Ter)
|
|
|
|
NM_001267550.2(TTN):c.47123C>G (p.Thr15708Arg)
|
rs1553711574
|
|
|
NM_001267550.2(TTN):c.47124A>T (p.Thr15708=)
|
|
|
|
NM_001267550.2(TTN):c.47127C>T (p.Asp15709=)
|
|
|
|
NM_001267550.2(TTN):c.47130T>G (p.Arg15710=)
|
|
|
|
NM_001267550.2(TTN):c.47136G>A (p.Glu15712=)
|
rs1477248428
|
|
|
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs)
|
rs886039125
|
|
|
NM_001267550.2(TTN):c.47139T>C (p.Ser15713=)
|
rs1576516161
|
|
|
NM_001267550.2(TTN):c.47142_47143del (p.Cys15714_Glu15715delinsTer)
|
rs869312107
|
|
|
NM_001267550.2(TTN):c.47143_47146dup (p.Phe15716Ter)
|
rs1422071853
|
|
|
NM_001267550.2(TTN):c.4716A>C (p.Arg1572=)
|
|
|
|
NM_001267550.2(TTN):c.47175A>G (p.Gly15725=)
|
rs2154209474
|
|
|
NM_001267550.2(TTN):c.47177T>C (p.Val15726Ala)
|
rs1553711371
|
|
|
NM_001267550.2(TTN):c.47190C>T (p.Phe15730=)
|
|
|
|
NM_001267550.2(TTN):c.47195dup (p.Ser15733fs)
|
|
|
|
NM_001267550.2(TTN):c.47199T>C (p.Ser15733=)
|
rs771136686
|
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
|
NM_001267550.2(TTN):c.47259G>A (p.Arg15753=)
|
rs961585462
|
|
|
NM_001267550.2(TTN):c.47269+12T>C
|
|
|
|
NM_001267550.2(TTN):c.47269+2T>C
|
rs1060500419
|
|
|
NM_001267550.2(TTN):c.47269+9T>A
|
|
|
|
NM_001267550.2(TTN):c.47269+9T>C
|
|
|
|
NM_001267550.2(TTN):c.47270-14G>A
|
|
|
|
NM_001267550.2(TTN):c.47285del (p.Pro15762fs)
|
|
|
|
NM_001267550.2(TTN):c.47287T>C (p.Leu15763=)
|
|
|
|
NM_001267550.2(TTN):c.47289G>T (p.Leu15763Phe)
|
rs1553710788
|
|
|
NM_001267550.2(TTN):c.47298C>T (p.Thr15766=)
|
rs1323015535
|
|
|
NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter)
|
rs2154209202
|
|
|
NM_001267550.2(TTN):c.47322T>C (p.Gly15774=)
|
rs1576511180
|
|
|
NM_001267550.2(TTN):c.47346A>G (p.Pro15782=)
|
|
|
|
NM_001267550.2(TTN):c.4734A>G (p.Arg1578=)
|
rs2154346510
|
|
|
NM_001267550.2(TTN):c.47364T>G (p.Ala15788=)
|
|
|
|
NM_001267550.2(TTN):c.47379C>A (p.Tyr15793Ter)
|
|
|
|
NM_001267550.2(TTN):c.47379C>G (p.Tyr15793Ter)
|
|
|
|
NM_001267550.2(TTN):c.47382C>G (p.Val15794=)
|
|
|
|
NM_001267550.2(TTN):c.47384_47385insCT (p.Glu15796fs)
|
|
|
|
NM_001267550.2(TTN):c.47394_47411del (p.Asp15799_Arg15804del)
|
rs398124453
|
|
|
NM_001267550.2(TTN):c.47407del (p.Ile15803fs)
|
rs2154209120
|
|
|
NM_001267550.2(TTN):c.4740G>C (p.Thr1580=)
|
|
|
|
NM_001267550.2(TTN):c.47414G>A (p.Trp15805Ter)
|
|
|
|
NM_001267550.2(TTN):c.47421T>C (p.Thr15807=)
|
|
|
|
NM_001267550.2(TTN):c.47439T>C (p.Ala15813=)
|
|
|
|
NM_001267550.2(TTN):c.47446C>T (p.Leu15816=)
|
|
|
|
NM_001267550.2(TTN):c.47457T>C (p.Thr15819=)
|
|
|
|
NM_001267550.2(TTN):c.47487C>A (p.Tyr15829Ter)
|
rs2057643696
|
|
|
NM_001267550.2(TTN):c.47487_47488del (p.Tyr15829_Ser15830delinsTer)
|
rs1447249014
|
|
|
NM_001267550.2(TTN):c.47493C>T (p.Phe15831=)
|
rs2154209071
|
|
|
NM_001267550.2(TTN):c.47494C>A (p.Arg15832=)
|
|
|
|
NM_001267550.2(TTN):c.47499G>A (p.Val15833=)
|
|
|
|
NM_001267550.2(TTN):c.4749C>T (p.Pro1583=)
|
rs2154346505
|
|
|
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)
|
rs397517589
|
|
|
NM_001267550.2(TTN):c.47511T>C (p.Asn15837=)
|
|
|
|
NM_001267550.2(TTN):c.47512C>T (p.Arg15838Ter)
|
rs762271078
|
|
|
NM_001267550.2(TTN):c.47515A>G (p.Ile15839Val)
|
rs1553710021
|
|
|
NM_001267550.2(TTN):c.4752C>T (p.Asn1584=)
|
rs879252955
|
|
|
NM_001267550.2(TTN):c.47537C>T (p.Ala15846Val)
|
rs1183139911
|
|
|
NM_001267550.2(TTN):c.47550C>T (p.Phe15850=)
|
rs113350914
|
|
|
NM_001267550.2(TTN):c.47568A>G (p.Pro15856=)
|
|
|
|
NM_001267550.2(TTN):c.47572+19G>T
|
rs2057624348
|
|
|
NM_001267550.2(TTN):c.47573-13T>A
|
|
|
|
NM_001267550.2(TTN):c.47573-13T>C
|
|
|
|
NM_001267550.2(TTN):c.47573-19A>C
|
|
|
|
NM_001267550.2(TTN):c.47573-1G>A
|
|
|
|
NM_001267550.2(TTN):c.47573-1G>C
|
|
|
|
NM_001267550.2(TTN):c.47573-8T>C
|
|
|
|
NM_001267550.2(TTN):c.47576_47577delGA
|
rs1060500489
|
|
|
NM_001267550.2(TTN):c.47579del (p.Pro15860fs)
|
rs2154208767
|
|
|
NM_001267550.2(TTN):c.47589T>C (p.Pro15863=)
|
|
|
|
NM_001267550.2(TTN):c.47592A>G (p.Val15864=)
|
rs2154208760
|
|
|
NM_001267550.2(TTN):c.4761T>C (p.Ile1587=)
|
rs2092325624
|
|
|
NM_001267550.2(TTN):c.47622A>G (p.Ser15874=)
|
|
|
|
NM_001267550.2(TTN):c.47626G>A (p.Val15876Ile)
|
rs766025438
|
|
|
NM_001267550.2(TTN):c.47628T>C (p.Val15876=)
|
|
|
|
NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter)
|
rs886044009
|
|
|
NM_001267550.2(TTN):c.47639G>A (p.Trp15880Ter)
|
|
|
|
NM_001267550.2(TTN):c.47649T>A (p.Pro15883=)
|
rs762471690
|
|
|
NM_001267550.2(TTN):c.47652G>C (p.Leu15884=)
|
rs1018824321
|
|
|
NM_001267550.2(TTN):c.47658T>C (p.Asp15886=)
|
|
|
|
NM_001267550.2(TTN):c.47660_47663del (p.Gly15887fs)
|
|
|
|
NM_001267550.2(TTN):c.47661A>G (p.Gly15887=)
|
|
|
|
NM_001267550.2(TTN):c.4766G>A (p.Trp1589Ter)
|
|
|
|
NM_001267550.2(TTN):c.47674_47680dup (p.Tyr15894fs)
|
|
|
|
NM_001267550.2(TTN):c.47688T>C (p.Ile15896=)
|
|
|
|
NM_001267550.2(TTN):c.47688del (p.Ile15896fs)
|
|
|
|
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter)
|
rs775186117
|
|
|
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter)
|
rs373040154
|
|
|
NM_001267550.2(TTN):c.47700A>G (p.Glu15900=)
|
rs749428085
|
|
|
NM_001267550.2(TTN):c.47701G>T (p.Glu15901Ter)
|
rs530338718
|
|
|
NM_001267550.2(TTN):c.47708_47709del (p.Lys15903fs)
|
|
|
|
NM_001267550.2(TTN):c.47715T>C (p.Asn15905=)
|
rs1559839662
|
|
|
NM_001267550.2(TTN):c.47727C>T (p.Cys15909=)
|
rs750029508
|
|
|
NM_001267550.2(TTN):c.47742C>A (p.Val15914=)
|
|
|
|
NM_001267550.2(TTN):c.47742C>T (p.Val15914=)
|
|
|
|
NM_001267550.2(TTN):c.47751G>A (p.Leu15917=)
|
rs2154208648
|
|
|
NM_001267550.2(TTN):c.47757C>T (p.Tyr15919=)
|
rs1060500551
|
|
|
NM_001267550.2(TTN):c.47760+12G>A
|
|
|
|
NM_001267550.2(TTN):c.47760+13C>T
|
|
|
|
NM_001267550.2(TTN):c.47760+18A>G
|
|
|
|
NM_001267550.2(TTN):c.47760+1G>A
|
rs2154208642
|
|
|
NM_001267550.2(TTN):c.47761-15_47761-12del
|
rs778074908
|
|
|
NM_001267550.2(TTN):c.47761-16T>C
|
|
|
|
NM_001267550.2(TTN):c.47761-2A>T
|
|
|
|
NM_001267550.2(TTN):c.47761-4G>C
|
rs564918195
|
|
|
NM_001267550.2(TTN):c.47761-7A>G
|
rs1365533381
|
|
|
NM_001267550.2(TTN):c.47761-9T>C
|
|
|
|
NM_001267550.2(TTN):c.47778A>G (p.Lys15926=)
|
|
|
|
NM_001267550.2(TTN):c.47786_47789del (p.Lys15929fs)
|
rs2154208514
|
|
|
NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter)
|
rs2057499255
|
|
|
NM_001267550.2(TTN):c.47802A>C (p.Val15934=)
|
rs1553708481
|
|
|
NM_001267550.2(TTN):c.47805T>G (p.Ser15935=)
|
rs918631230
|
|
|
NM_001267550.2(TTN):c.47808del (p.Glu15937fs)
|
|
|
|
NM_001267550.2(TTN):c.47832T>C (p.Asp15944=)
|
rs2154208503
|
|
|
NM_001267550.2(TTN):c.47838T>G (p.Ser15946=)
|
|
|
|
NM_001267550.2(TTN):c.47856C>T (p.Leu15952=)
|
rs1362019752
|
|
|
NM_001267550.2(TTN):c.47875+10T>C
|
|
|
|
NM_001267550.2(TTN):c.47875+12T>C
|
rs758849410
|
|
|
NM_001267550.2(TTN):c.47875+17T>C
|
|
|
|
NM_001267550.2(TTN):c.47875+4_47875+7del
|
rs753206674
|
|
|
NM_001267550.2(TTN):c.47875+8G>A
|
rs144688960
|
|
|
NM_001267550.2(TTN):c.47875+8G>T
|
|
|
|
NM_001267550.2(TTN):c.47875+8_47875+11del
|
rs2154208459
|
|
|
NM_001267550.2(TTN):c.47875+9A>G
|
rs1553708222
|
|
|
NM_001267550.2(TTN):c.47876-10T>C
|
|
|
|
NM_001267550.2(TTN):c.47876-11C>A
|
|
|
|
NM_001267550.2(TTN):c.47876-17A>T
|
|
|
|
NM_001267550.2(TTN):c.47876-18_47876-14dup
|
rs1559835777
|
|
|
NM_001267550.2(TTN):c.47885dup (p.Met15963fs)
|
rs2057454001
|
|
|
NM_001267550.2(TTN):c.47886A>C (p.Thr15962=)
|
|
|
|
NM_001267550.2(TTN):c.47892T>C (p.Asp15964=)
|
rs727503623
|
|
|
NM_001267550.2(TTN):c.47894T>A (p.Leu15965Ter)
|
rs878982457
|
|
|
NM_001267550.2(TTN):c.47898T>C (p.Ser15966=)
|
rs2154208346
|
|
|
NM_001267550.2(TTN):c.47900C>A (p.Ala15967Glu)
|
rs1553707943
|
|
|
NM_001267550.2(TTN):c.4794T>G (p.Pro1598=)
|
rs2154346489
|
|
|
NM_001267550.2(TTN):c.47985C>G (p.Thr15995=)
|
rs2057437316
|
|
|
NM_001267550.2(TTN):c.47988G>A (p.Trp15996Ter)
|
|
|
|
NM_001267550.2(TTN):c.47994T>C (p.Phe15998=)
|
rs2154208306
|
|
|
NM_001267550.2(TTN):c.48002_48006dup (p.Leu16003fs)
|
rs2154208302
|
|
|
NM_001267550.2(TTN):c.48022C>A (p.Arg16008=)
|
|
|
|
NM_001267550.2(TTN):c.48024G>T (p.Arg16008=)
|
rs780824428
|
|
|
NM_001267550.2(TTN):c.48052G>A (p.Ala16018Thr)
|
rs1451009964
|
|
|
NM_001267550.2(TTN):c.48081T>A (p.Arg16027=)
|
rs754088360
|
|
|
NM_001267550.2(TTN):c.48106A>C (p.Lys16036Gln)
|
rs886055271
|
|
|
NM_001267550.2(TTN):c.48110T>A (p.Leu16037Ter)
|
|
|
|
NM_001267550.2(TTN):c.48117C>T (p.Asn16039=)
|
|
|
|
NM_001267550.2(TTN):c.4814+16A>G
|
|
|
|
NM_001267550.2(TTN):c.4814+18A>G
|
rs2092313768
|
|
|
NM_001267550.2(TTN):c.4814+3A>C
|
rs567197047
|
|
|
NM_001267550.2(TTN):c.4814+6T>C
|
|
|
|
NM_001267550.2(TTN):c.4814+9G>A
|
rs768137657
|
|
|
NM_001267550.2(TTN):c.4814+9G>C
|
rs768137657
|
|
|
NM_001267550.2(TTN):c.48142del (p.Ile16048fs)
|
|
|
|
NM_001267550.2(TTN):c.4815-10C>T
|
rs2154346415
|
|
|
NM_001267550.2(TTN):c.4815-13del
|
|
|
|
NM_001267550.2(TTN):c.4815-15C>T
|
rs2154346421
|
|
|
NM_001267550.2(TTN):c.4815-6T>C
|
rs2154346410
|
|
|
NM_001267550.2(TTN):c.48153T>C (p.Asn16051=)
|
rs1445636202
|
|
|
NM_001267550.2(TTN):c.48157_48158del (p.Ile16053fs)
|
rs2154208239
|
|
|
NM_001267550.2(TTN):c.48160+11A>G
|
rs2154208228
|
|
|
NM_001267550.2(TTN):c.48160+19A>G
|
|
|
|
NM_001267550.2(TTN):c.48160+9C>T
|
|
|
|
NM_001267550.2(TTN):c.48160G>A (p.Ala16054Thr)
|
rs1576492463
|
|
|
NM_001267550.2(TTN):c.48161-16G>A
|
|
|
|
NM_001267550.2(TTN):c.48161-19dup
|
|
|
|
NM_001267550.2(TTN):c.48161-20G>A
|
|
|
|
NM_001267550.2(TTN):c.48161-4T>C
|
|
|
|
NM_001267550.2(TTN):c.48161-4del
|
rs730880371
|
|
|
NM_001267550.2(TTN):c.48167del (p.Pro16056fs)
|
rs1443466576
|
|
|
NM_001267550.2(TTN):c.48174A>G (p.Ala16058=)
|
rs2154208109
|
|
|
NM_001267550.2(TTN):c.48177del (p.Glu16061fs)
|
|
|
|
NM_001267550.2(TTN):c.48181G>T (p.Glu16061Ter)
|
|
|
|
NM_001267550.2(TTN):c.48223_48227dup (p.Trp16076Ter)
|
|
|
|
NM_001267550.2(TTN):c.48225T>C (p.Thr16075=)
|
rs2057381379
|
|
|
NM_001267550.2(TTN):c.48227_48229delinsAAA (p.Trp16076_Glu16077delinsTer)
|
rs1553706971
|
|
|
NM_001267550.2(TTN):c.48229del (p.Glu16077fs)
|
|
|
|
NM_001267550.2(TTN):c.48233del (p.Pro16078fs)
|
|
|
|
NM_001267550.2(TTN):c.48240T>C (p.Asp16080=)
|
|
|
|
NM_001267550.2(TTN):c.48248_48251del (p.Gly16083fs)
|
|
|
|
NM_001267550.2(TTN):c.48252A>G (p.Gly16084=)
|
rs749269667
|
|
|
NM_001267550.2(TTN):c.48264T>C (p.Thr16088=)
|
|
|
|
NM_001267550.2(TTN):c.48264del (p.Gly16089fs)
|
rs2154208052
|
|
|
NM_001267550.2(TTN):c.48267A>T (p.Gly16089=)
|
rs2154208050
|
|
|
NM_001267550.2(TTN):c.4827C>G (p.Thr1609=)
|
|
|
|
NM_001267550.2(TTN):c.48291C>T (p.Val16097=)
|
rs1278318251
|
|
|
NM_001267550.2(TTN):c.48311A>C (p.Lys16104Thr)
|
rs1060500396
|
|
|
NM_001267550.2(TTN):c.48312+2T>C
|
rs2057367803
|
|
|
NM_001267550.2(TTN):c.48312+2dup
|
rs776497397
|
|
|
NM_001267550.2(TTN):c.48312+5G>A
|
|
|
|
NM_001267550.2(TTN):c.48313-13T>C
|
rs2154207052
|
|
|
NM_001267550.2(TTN):c.48313-14T>C
|
|
|
|
NM_001267550.2(TTN):c.48313-1G>A
|
rs2154207046
|
|
|
NM_001267550.2(TTN):c.48315T>A (p.Val16105=)
|
rs765925101
|
|
|
NM_001267550.2(TTN):c.48320_48323dup (p.Phe16108fs)
|
|
|
|
NM_001267550.2(TTN):c.48330T>C (p.Thr16110=)
|
rs557105262
|
|
|
NM_001267550.2(TTN):c.48357T>C (p.Leu16119=)
|
|
|
|
NM_001267550.2(TTN):c.48369A>G (p.Lys16123=)
|
|
|
|
NM_001267550.2(TTN):c.48369dup (p.Glu16124fs)
|
rs1553705557
|
|
|
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del)
|
rs561618839
|
|
|
NM_001267550.2(TTN):c.48379_48382del (p.Phe16127fs)
|
rs1064796347
|
|
|
NM_001267550.2(TTN):c.48396T>C (p.Arg16132=)
|
rs902321645
|
|
|
NM_001267550.2(TTN):c.48399C>A (p.Asn16133Lys)
|
rs1060500470
|
|
|
NM_001267550.2(TTN):c.483A>G (p.Leu161=)
|
rs2154359016
|
|
|
NM_001267550.2(TTN):c.48433G>T (p.Glu16145Ter)
|
|
|
|
NM_001267550.2(TTN):c.48441A>G (p.Val16147=)
|
rs2154206902
|
|
|
NM_001267550.2(TTN):c.48456T>C (p.Pro16152=)
|
|
|
|
NM_001267550.2(TTN):c.48460+13T>G
|
|
|
|
NM_001267550.2(TTN):c.48461-17T>C
|
|
|
|
NM_001267550.2(TTN):c.48461-18C>T
|
rs759697221
|
|
|
NM_001267550.2(TTN):c.48461-1G>A
|
rs2154206288
|
|
|
NM_001267550.2(TTN):c.48461-20C>G
|
|
|
|
NM_001267550.2(TTN):c.48461-2A>C
|
rs1553705079
|
|
|
NM_001267550.2(TTN):c.48461-7G>A
|
rs548241708
|
|
|
NM_001267550.2(TTN):c.48461-8T>C
|
|
|
|
NM_001267550.2(TTN):c.48468T>C (p.Pro16156=)
|
rs1159928426
|
|
|
NM_001267550.2(TTN):c.48499C>A (p.Arg16167=)
|
rs1312425985
|
|
|
NM_001267550.2(TTN):c.48499C>T (p.Arg16167Ter)
|
rs1312425985
|
|
|
NM_001267550.2(TTN):c.48501A>G (p.Arg16167=)
|
|
|
|
NM_001267550.2(TTN):c.48501A>T (p.Arg16167=)
|
rs756706802
|
|
|
NM_001267550.2(TTN):c.48502del (p.Thr16168fs)
|
|
|
|
NM_001267550.2(TTN):c.48510T>C (p.Asn16170=)
|
rs2154206090
|
|
|
NM_001267550.2(TTN):c.48516C>A (p.Ile16172=)
|
rs2154206083
|
|
|
NM_001267550.2(TTN):c.48521T>G (p.Leu16174Ter)
|
|
|
|
NM_001267550.2(TTN):c.48522A>G (p.Leu16174=)
|
rs1347459702
|
|
|
NM_001267550.2(TTN):c.48534A>T (p.Pro16178=)
|
|
|
|
NM_001267550.2(TTN):c.48542dup (p.Asn16181fs)
|
rs1576472316
|
|
|
NM_001267550.2(TTN):c.48550_48553dup (p.Ser16185fs)
|
rs2154205990
|
|
|
NM_001267550.2(TTN):c.48557G>A (p.Arg16186His)
|
rs769784536
|
|
|
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu)
|
rs769784536
|
|
|
NM_001267550.2(TTN):c.48576T>C (p.Val16192=)
|
|
|
|
NM_001267550.2(TTN):c.48579A>G (p.Glu16193=)
|
|
|
|
NM_001267550.2(TTN):c.48590G>A (p.Arg16197His)
|
rs369826752
|
|
|
NM_001267550.2(TTN):c.48605G>A (p.Trp16202Ter)
|
|
|
|
NM_001267550.2(TTN):c.48606G>A (p.Trp16202Ter)
|
|
|
|
NM_001267550.2(TTN):c.48612C>T (p.Ala16204=)
|
rs886043341
|
|
|
NM_001267550.2(TTN):c.48629del (p.Ala16210fs)
|
rs2057135958
|
|
|
NM_001267550.2(TTN):c.48634del (p.Thr16212fs)
|
rs2154205763
|
|
|
NM_001267550.2(TTN):c.48636A>T (p.Thr16212=)
|
|
|
|
NM_001267550.2(TTN):c.48638+10T>C
|
|
|
|
NM_001267550.2(TTN):c.48638+14T>C
|
rs766412535
|
|
|
NM_001267550.2(TTN):c.48638+19A>C
|
rs766114993
|
|
|
NM_001267550.2(TTN):c.48638+19A>G
|
|
|
|
NM_001267550.2(TTN):c.48638+5G>T
|
rs397517594
|
|
|
NM_001267550.2(TTN):c.48638+5del
|
rs2057135287
|
|
|
NM_001267550.2(TTN):c.48639-14_48639-13del
|
rs778189928
|
|
|
NM_001267550.2(TTN):c.48639-18T>C
|
|
|
|
NM_001267550.2(TTN):c.48639-3C>A
|
rs923663993
|
|
|
NM_001267550.2(TTN):c.48657T>C (p.Leu16219=)
|
|
|
|
NM_001267550.2(TTN):c.48660G>A (p.Glu16220=)
|
|
|
|
NM_001267550.2(TTN):c.48666C>A (p.Gly16222=)
|
|
|
|
NM_001267550.2(TTN):c.48668A>C (p.Lys16223Thr)
|
rs1553704101
|
|
|
NM_001267550.2(TTN):c.48681C>T (p.Tyr16227=)
|
|
|
|
NM_001267550.2(TTN):c.48693C>T (p.Ala16231=)
|
rs2154202895
|
|
|
NM_001267550.2(TTN):c.48698dup (p.Asn16233fs)
|
rs2057026455
|
|
|
NM_001267550.2(TTN):c.48723C>T (p.Ser16241=)
|
|
|
|
NM_001267550.2(TTN):c.48727C>A (p.Pro16243Thr)
|
rs72677242
|
|
|
NM_001267550.2(TTN):c.48747T>C (p.Ala16249=)
|
|
|
|
NM_001267550.2(TTN):c.48750G>A (p.Val16250=)
|
|
|
|
NM_001267550.2(TTN):c.48753C>T (p.Asp16251=)
|
|
|
|
NM_001267550.2(TTN):c.48759del (p.Glu16254fs)
|
rs2057015875
|
|
|
NM_001267550.2(TTN):c.48760+13G>T
|
|
|
|
NM_001267550.2(TTN):c.48760+17T>A
|
rs932428446
|
|
|
NM_001267550.2(TTN):c.48760+1G>A
|
|
|
|
NM_001267550.2(TTN):c.48760+1G>C
|
|
|
|
NM_001267550.2(TTN):c.48760+1G>T
|
|
|
|
NM_001267550.2(TTN):c.48760+20G>T
|
|
|
|
NM_001267550.2(TTN):c.48760+2T>C
|
|
|
|
NM_001267550.2(TTN):c.48760G>C (p.Glu16254Gln)
|
|
|
|
NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)
|
|
|
|
NM_001267550.2(TTN):c.48761-15T>C
|
|
|
|
NM_001267550.2(TTN):c.48761-20A>C
|
|
|
|
NM_001267550.2(TTN):c.48761-8C>T
|
|
|
|
NM_001267550.2(TTN):c.48761-9C>T
|
|
|
|
NM_001267550.2(TTN):c.48765C>T (p.Ala16255=)
|
rs1038311185
|
|
|
NM_001267550.2(TTN):c.48767dup (p.Glu16257fs)
|
|
|
|
NM_001267550.2(TTN):c.48777C>T (p.Phe16259=)
|
|
|
|
NM_001267550.2(TTN):c.48780C>G (p.Leu16260=)
|
rs754126382
|
|
|
NM_001267550.2(TTN):c.48780C>T (p.Leu16260=)
|
rs754126382
|
|
|
NM_001267550.2(TTN):c.48792C>T (p.Leu16264=)
|
|
|
|
NM_001267550.2(TTN):c.48808_48809del (p.Val16270fs)
|
|
|
|
NM_001267550.2(TTN):c.4880G>A (p.Trp1627Ter)
|
rs767755367
|
|
|
NM_001267550.2(TTN):c.48810A>G (p.Val16270=)
|
|
|
|
NM_001267550.2(TTN):c.48819G>A (p.Gly16273=)
|
|
|
|
NM_001267550.2(TTN):c.48832del (p.Leu16278fs)
|
|
|
|
NM_001267550.2(TTN):c.48843C>T (p.Thr16281=)
|
rs547682223
|
|
|
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg)
|
rs368527534
|
|
|
NM_001267550.2(TTN):c.48862C>T (p.Pro16288Ser)
|
rs894986526
|
|
|
NM_001267550.2(TTN):c.48864T>A (p.Pro16288=)
|
rs2154201695
|
|
|
NM_001267550.2(TTN):c.48906C>T (p.Asp16302=)
|
|
|
|
NM_001267550.2(TTN):c.4890G>T (p.Ala1630=)
|
rs752145538
|
|
|
NM_001267550.2(TTN):c.48913_48916dup (p.Thr16306fs)
|
|
|
|
NM_001267550.2(TTN):c.48945A>G (p.Thr16315=)
|
|
|
|
NM_001267550.2(TTN):c.48969A>G (p.Arg16323=)
|
rs2154201674
|
|
|
NM_001267550.2(TTN):c.48971G>T (p.Ser16324Ile)
|
rs878948684
|
|
|
NM_001267550.2(TTN):c.48978T>C (p.Thr16326=)
|
|
|
|
NM_001267550.2(TTN):c.48978T>G (p.Thr16326=)
|
|
|
|
NM_001267550.2(TTN):c.489dup (p.Ala164fs)
|
rs1574990483
|
|
|
NM_001267550.2(TTN):c.48G>A (p.Val16=)
|
|
|
|
NM_001267550.2(TTN):c.49004dup (p.Asn16335fs)
|
rs1576461647
|
|
|
NM_001267550.2(TTN):c.49011_49012del (p.Cys16337fs)
|
|
|
|
NM_001267550.2(TTN):c.49026T>G (p.Ala16342=)
|
|
|
|
NM_001267550.2(TTN):c.49038G>A (p.Val16346=)
|
|
|
|
NM_001267550.2(TTN):c.49048+10del
|
|
|
|
NM_001267550.2(TTN):c.49048+1G>A
|
|
|
|
NM_001267550.2(TTN):c.49048+4A>G
|
rs766931932
|
|
|
NM_001267550.2(TTN):c.49049-11G>A
|
|
|
|
NM_001267550.2(TTN):c.49049-1G>C
|
rs868064056
|
|
|
NM_001267550.2(TTN):c.49049-2A>C
|
|
|
|
NM_001267550.2(TTN):c.49049-8A>G
|
rs2056900509
|
|
|
NM_001267550.2(TTN):c.49049-8A>T
|
rs2056900509
|
|
|
NM_001267550.2(TTN):c.49056C>T (p.Pro16352=)
|
|
|
|
NM_001267550.2(TTN):c.49059A>G (p.Gly16353=)
|
rs1215673191
|
|
|
NM_001267550.2(TTN):c.49068T>C (p.Ala16356=)
|
rs2154201612
|
|
|
NM_001267550.2(TTN):c.49101_49102del (p.Cys16368fs)
|
rs1576457869
|
|
|
NM_001267550.2(TTN):c.4910del (p.Gly1637fs)
|
rs886044013
|
|
|
NM_001267550.2(TTN):c.4911C>T (p.Gly1637=)
|
|
|
|
NM_001267550.2(TTN):c.49122A>G (p.Pro16374=)
|
|
|
|
NM_001267550.2(TTN):c.49134T>C (p.Asp16378=)
|
rs2154201598
|
|
|
NM_001267550.2(TTN):c.49140A>T (p.Gly16380=)
|
rs879110855
|
|
|
NM_001267550.2(TTN):c.4914A>G (p.Arg1638=)
|
rs2154346368
|
|
|
NM_001267550.2(TTN):c.49152A>C (p.Thr16384=)
|
rs754272157
|
|
|
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)
|
rs570046043
|
|
|
NM_001267550.2(TTN):c.49173A>G (p.Arg16391=)
|
|
|
|
NM_001267550.2(TTN):c.49174G>A (p.Ala16392Thr)
|
rs794729446
|
|
|
NM_001267550.2(TTN):c.49175C>A (p.Ala16392Glu)
|
rs750310775
|
|
|
NM_001267550.2(TTN):c.49187_49191dup (p.Trp16398fs)
|
|
|
|
NM_001267550.2(TTN):c.49203C>T (p.Leu16401=)
|
|
|
|
NM_001267550.2(TTN):c.49209C>T (p.Ser16403=)
|
rs771429905
|
|
|
NM_001267550.2(TTN):c.49239C>T (p.Thr16413=)
|
rs2056862850
|
|
|
NM_001267550.2(TTN):c.4923A>G (p.Thr1641=)
|
|
|
|
NM_001267550.2(TTN):c.49241A>G (p.Lys16414Arg)
|
rs1329659749
|
|
|
NM_001267550.2(TTN):c.49269C>T (p.Phe16423=)
|
|
|
|
NM_001267550.2(TTN):c.49308A>G (p.Pro16436=)
|
|
|
|
NM_001267550.2(TTN):c.49345+11C>T
|
|
|
|
NM_001267550.2(TTN):c.49345+12A>C
|
|
|
|
NM_001267550.2(TTN):c.49345+18C>T
|
|
|
|
NM_001267550.2(TTN):c.49345+1G>T
|
|
|
|
NM_001267550.2(TTN):c.49345+2T>C
|
rs1559805633
|
|
|
NM_001267550.2(TTN):c.49345+3A>G
|
rs2056845605
|
|
|
NM_001267550.2(TTN):c.49346-10C>T
|
rs2154201383
|
|
|
NM_001267550.2(TTN):c.49346-11C>G
|
|
|
|
NM_001267550.2(TTN):c.49346-18C>A
|
|
|
|
NM_001267550.2(TTN):c.49346-1G>A
|
rs869312070
|
|
|
NM_001267550.2(TTN):c.49350A>T (p.Pro16450=)
|
rs2056813317
|
|
|
NM_001267550.2(TTN):c.49388C>A (p.Thr16463Asn)
|
rs541307234
|
|
|
NM_001267550.2(TTN):c.49401G>T (p.Val16467=)
|
|
|
|
NM_001267550.2(TTN):c.49410A>G (p.Thr16470=)
|
rs1415252331
|
|
|
NM_001267550.2(TTN):c.49413G>A (p.Trp16471Ter)
|
rs202094100
|
|
|
NM_001267550.2(TTN):c.49434T>C (p.Gly16478=)
|
rs929454301
|
|
|
NM_001267550.2(TTN):c.49479T>C (p.Asp16493=)
|
rs769296123
|
|
|
NM_001267550.2(TTN):c.49488A>G (p.Lys16496=)
|
rs1553701108
|
|
|
NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter)
|
|
|
|
NM_001267550.2(TTN):c.49525dup (p.Thr16509fs)
|
rs2154201255
|
|
|
NM_001267550.2(TTN):c.49532+10G>T
|
|
|
|
NM_001267550.2(TTN):c.49532+17C>G
|
|
|
|
NM_001267550.2(TTN):c.49532+7T>C
|
rs2154201240
|
|
|
NM_001267550.2(TTN):c.49533-13G>A
|
rs13395942
|
|
|
NM_001267550.2(TTN):c.49533-18A>G
|
rs2154200935
|
|
|
NM_001267550.2(TTN):c.49533-1G>C
|
|
|
|
NM_001267550.2(TTN):c.49533-2A>G
|
|
|
|
NM_001267550.2(TTN):c.49533-7A>C
|
|
|
|
NM_001267550.2(TTN):c.49575G>A (p.Val16525=)
|
rs886038826
|
|
|
NM_001267550.2(TTN):c.4959G>A (p.Glu1653=)
|
|
|
|
NM_001267550.2(TTN):c.495A>G (p.Glu165=)
|
|
|
|
NM_001267550.2(TTN):c.49617A>G (p.Ser16539=)
|
rs2154200898
|
|
|
NM_001267550.2(TTN):c.49626A>C (p.Pro16542=)
|
|
|
|
NM_001267550.2(TTN):c.49638G>A (p.Lys16546=)
|
|
|
|
NM_001267550.2(TTN):c.49648+11T>C
|
|
|
|
NM_001267550.2(TTN):c.49648+1G>A
|
|
|
|
NM_001267550.2(TTN):c.49648+1G>T
|
|
|
|
NM_001267550.2(TTN):c.49648+7T>C
|
rs1553700115
|
|
|
NM_001267550.2(TTN):c.49649-2A>T
|
rs2154200803
|
|
|
NM_001267550.2(TTN):c.49649-4G>A
|
|
|
|
NM_001267550.2(TTN):c.49649-8G>A
|
rs1296561807
|
|
|
NM_001267550.2(TTN):c.49666G>T (p.Gly16556Ter)
|
|
|
|
NM_001267550.2(TTN):c.49685del (p.Asp16562fs)
|
|
|
|
NM_001267550.2(TTN):c.49700C>A (p.Ser16567Ter)
|
|
|
|
NM_001267550.2(TTN):c.49713T>C (p.Asn16571=)
|
|
|
|
NM_001267550.2(TTN):c.4971G>A (p.Glu1657=)
|
|
|
|
NM_001267550.2(TTN):c.49749dup (p.Glu16584Ter)
|
rs2056619632
|
|
|
NM_001267550.2(TTN):c.49752G>A (p.Glu16584=)
|
rs763652368
|
|
|
NM_001267550.2(TTN):c.49758T>G (p.Tyr16586Ter)
|
rs72677247
|
|
|
NM_001267550.2(TTN):c.49788T>C (p.Asp16596=)
|
|
|
|
NM_001267550.2(TTN):c.49793G>A (p.Trp16598Ter)
|
|
|
|
NM_001267550.2(TTN):c.4979T>G (p.Leu1660Ter)
|
|
|
|
NM_001267550.2(TTN):c.49812G>A (p.Gly16604=)
|
rs760032120
|
|
|
NM_001267550.2(TTN):c.49812G>C (p.Gly16604=)
|
|
|
|
NM_001267550.2(TTN):c.49821C>A (p.Thr16607=)
|
|
|
|
NM_001267550.2(TTN):c.49839A>G (p.Pro16613=)
|
|
|
|
NM_001267550.2(TTN):c.49842G>A (p.Gly16614=)
|
|
|
|
NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter)
|
rs1553699454
|
|
|
NM_001267550.2(TTN):c.49863C>A (p.Tyr16621Ter)
|
rs1553699440
|
|
|
NM_001267550.2(TTN):c.49863C>G (p.Tyr16621Ter)
|
rs794729264
|
|
|
NM_001267550.2(TTN):c.49874_49877dup (p.Arg16626delinsSerTer)
|
rs2056596896
|
|
|
NM_001267550.2(TTN):c.49875T>A (p.Val16625=)
|
|
|
|
NM_001267550.2(TTN):c.49875T>C (p.Val16625=)
|
|
|
|
NM_001267550.2(TTN):c.49896G>A (p.Gly16632=)
|
|
|
|
NM_001267550.2(TTN):c.4989A>T (p.Pro1663=)
|
rs756408474
|
|
|
NM_001267550.2(TTN):c.49902T>C (p.Ser16634=)
|
rs2154200651
|
|
|
NM_001267550.2(TTN):c.49905A>G (p.Glu16635=)
|
|
|
|
NM_001267550.2(TTN):c.49911T>C (p.Ser16637=)
|
|
|
|
NM_001267550.2(TTN):c.4991G>A (p.Arg1664Gln)
|
|
|
|
NM_001267550.2(TTN):c.49926T>C (p.Pro16642=)
|
|
|
|
NM_001267550.2(TTN):c.49945C>T (p.Leu16649=)
|
rs2056584496
|
|
|
NM_001267550.2(TTN):c.49948+11C>G
|
|
|
|
NM_001267550.2(TTN):c.49948+2T>G
|
|
|
|
NM_001267550.2(TTN):c.49948+2_49948+10del
|
rs2056581815
|
|
|
NM_001267550.2(TTN):c.49948+7C>T
|
|
|
|
NM_001267550.2(TTN):c.49949-15T>C
|
rs2154200488
|
|
|
NM_001267550.2(TTN):c.49949-1G>T
|
|
|
|
NM_001267550.2(TTN):c.49949-9_49949-7del
|
rs781693390
|
|
|
NM_001267550.2(TTN):c.49953T>C (p.Pro16651=)
|
|
|
|
NM_001267550.2(TTN):c.4995del (p.Thr1666fs)
|
rs2154346335
|
|
|
NM_001267550.2(TTN):c.49964C>A (p.Pro16655Gln)
|
|
|
|
NM_001267550.2(TTN):c.49964del (p.Pro16655fs)
|
|
|
|
NM_001267550.2(TTN):c.49968C>T (p.Arg16656=)
|
rs750363367
|
|
|
NM_001267550.2(TTN):c.49970G>A (p.Trp16657Ter)
|
rs2154200456
|
|
|
NM_001267550.2(TTN):c.49980T>C (p.Val16660=)
|
|
|
|
NM_001267550.2(TTN):c.50007C>T (p.Asp16669=)
|
|
|
|
NM_001267550.2(TTN):c.50016G>A (p.Trp16672Ter)
|
rs2154200433
|
|
|
NM_001267550.2(TTN):c.5001T>C (p.Tyr1667=)
|
rs540957547
|
|
|
NM_001267550.2(TTN):c.5001T>G (p.Tyr1667Ter)
|
|
|
|
NM_001267550.2(TTN):c.50028G>A (p.Glu16676=)
|
rs727503621
|
|
|
NM_001267550.2(TTN):c.5003G>A (p.Arg1668Lys)
|
rs1554008153
|
|
|
NM_001267550.2(TTN):c.50040G>T (p.Gly16680=)
|
rs553888905
|
|
|
NM_001267550.2(TTN):c.50046C>A (p.Pro16682=)
|
rs2154200411
|
|
|
NM_001267550.2(TTN):c.50052C>G (p.Thr16684=)
|
|
|
|
NM_001267550.2(TTN):c.50058C>T (p.Tyr16686=)
|
|
|
|
NM_001267550.2(TTN):c.50074_50075del (p.Asp16692fs)
|
rs1060500513
|
|
|
NM_001267550.2(TTN):c.50079C>T (p.Val16693=)
|
rs1576432517
|
|
|
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)
|
rs751502842
|
|
|
NM_001267550.2(TTN):c.50085A>G (p.Arg16695=)
|
|
|
|
NM_001267550.2(TTN):c.50094G>A (p.Trp16698Ter)
|
|
|
|
NM_001267550.2(TTN):c.50095C>T (p.Gln16699Ter)
|
rs2056504499
|
|
|
NM_001267550.2(TTN):c.50098dup (p.Thr16700fs)
|
|
|
|
NM_001267550.2(TTN):c.50112T>C (p.Thr16704=)
|
rs1480918075
|
|
|
NM_001267550.2(TTN):c.50124C>T (p.Thr16708=)
|
rs2154200363
|
|
|
NM_001267550.2(TTN):c.50136C>T (p.Val16712=)
|
|
|
|
NM_001267550.2(TTN):c.50151G>A (p.Glu16717=)
|
rs369623681
|
|
|
NM_001267550.2(TTN):c.50158T>C (p.Leu16720=)
|
|
|
|
NM_001267550.2(TTN):c.50163T>G (p.Tyr16721Ter)
|
|
|
|
NM_001267550.2(TTN):c.50169C>T (p.Phe16723=)
|
rs1247167991
|
|
|
NM_001267550.2(TTN):c.5016T>C (p.Ile1672=)
|
|
|
|
NM_001267550.2(TTN):c.50172A>T (p.Arg16724=)
|
|
|
|
NM_001267550.2(TTN):c.50189C>T (p.Ala16730Val)
|
rs763483590
|
|
|
NM_001267550.2(TTN):c.5019A>C (p.Ala1673=)
|
|
|
|
NM_001267550.2(TTN):c.501C>G (p.Tyr167Ter)
|
|
|
|
NM_001267550.2(TTN):c.50208C>T (p.Tyr16736=)
|
|
|
|
NM_001267550.2(TTN):c.50211C>T (p.Thr16737=)
|
rs577041683
|
|
|
NM_001267550.2(TTN):c.50235C>G (p.Ala16745=)
|
|
|
|
NM_001267550.2(TTN):c.50244C>G (p.Thr16748=)
|
rs778337707
|
|
|
NM_001267550.2(TTN):c.50248+16T>G
|
|
|
|
NM_001267550.2(TTN):c.50248+17A>C
|
rs755904987
|
|
|
NM_001267550.2(TTN):c.50248+19T>C
|
|
|
|
NM_001267550.2(TTN):c.50249-13A>G
|
|
|
|
NM_001267550.2(TTN):c.50249-14T>C
|
|
|
|
NM_001267550.2(TTN):c.50249-15T>G
|
rs727504732
|
|
|
NM_001267550.2(TTN):c.50249-7T>A
|
|
|
|
NM_001267550.2(TTN):c.50249-8_50249-4del
|
|
|
|
NM_001267550.2(TTN):c.50250C>T (p.Thr16750=)
|
|
|
|
NM_001267550.2(TTN):c.50256T>C (p.Pro16752=)
|
rs1576428224
|
|
|
NM_001267550.2(TTN):c.5025A>G (p.Pro1675=)
|
rs971913073
|
|
|
NM_001267550.2(TTN):c.50265C>T (p.Pro16755=)
|
rs2154200169
|
|
|
NM_001267550.2(TTN):c.50281_50284del (p.Val16761fs)
|
|
|
|
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter)
|
rs754866489
|
|
|
NM_001267550.2(TTN):c.50307C>T (p.Asp16769=)
|
rs757648293
|
|
|
NM_001267550.2(TTN):c.50316G>A (p.Trp16772Ter)
|
rs1433307898
|
|
|
NM_001267550.2(TTN):c.50322A>C (p.Pro16774=)
|
rs1333231112
|
|
|
NM_001267550.2(TTN):c.50337T>C (p.Gly16779=)
|
rs983630096
|
|
|
NM_001267550.2(TTN):c.50337T>G (p.Gly16779=)
|
rs983630096
|
|
|
NM_001267550.2(TTN):c.50343A>G (p.Arg16781=)
|
rs1308398441
|
|
|
NM_001267550.2(TTN):c.50355-10G>A
|
|
|
|
NM_001267550.2(TTN):c.50355-10_50355-8del
|
|
|
|
NM_001267550.2(TTN):c.50355-14T>C
|
rs754276850
|
|
|
NM_001267550.2(TTN):c.50355-22_50355-18del
|
rs2154200048
|
|
|
NM_001267550.2(TTN):c.50355-5A>G
|
rs1553697218
|
|
|
NM_001267550.2(TTN):c.50355-7dup
|
|
|
|
NM_001267550.2(TTN):c.50355-8T>G
|
|
|
|
NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter)
|
rs72677249
|
|
|
NM_001267550.2(TTN):c.50358T>C (p.Tyr16786=)
|
rs72677249
|
|
|
NM_001267550.2(TTN):c.50361C>T (p.Val16787=)
|
|
|
|
NM_001267550.2(TTN):c.50377A>C (p.Arg16793=)
|
rs2154200003
|
|
|
NM_001267550.2(TTN):c.50441C>G (p.Thr16814Ser)
|
rs1559783698
|
|
|
NM_001267550.2(TTN):c.50457A>G (p.Gly16819=)
|
|
|
|
NM_001267550.2(TTN):c.50467C>T (p.Gln16823Ter)
|
|
|
|
NM_001267550.2(TTN):c.50467_50468del (p.Gln16823fs)
|
|
|
|
NM_001267550.2(TTN):c.5046G>A (p.Leu1682=)
|
|
|
|
NM_001267550.2(TTN):c.50479C>A (p.Arg16827=)
|
rs727503620
|
|
|
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter)
|
rs587780490
|
|
|
NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831delinsLysTer)
|
rs1553696967
|
|
|
NM_001267550.2(TTN):c.50490T>C (p.Asn16830=)
|
|
|
|
NM_001267550.2(TTN):c.50520C>T (p.Pro16840=)
|
|
|
|
NM_001267550.2(TTN):c.5052T>C (p.Tyr1684=)
|
rs727503694
|
|
|
NM_001267550.2(TTN):c.50535C>G (p.Ser16845=)
|
rs1576423554
|
|
|
NM_001267550.2(TTN):c.50547A>C (p.Pro16849=)
|
|
|
|
NM_001267550.2(TTN):c.50551+12T>G
|
|
|
|
NM_001267550.2(TTN):c.50551+17A>T
|
rs2056368086
|
|
|
NM_001267550.2(TTN):c.50551+8G>A
|
rs201481670
|
|
|
NM_001267550.2(TTN):c.50552-11T>G
|
|
|
|
NM_001267550.2(TTN):c.50552-16T>C
|
|
|
|
NM_001267550.2(TTN):c.50552-17T>G
|
|
|
|
NM_001267550.2(TTN):c.50552-1G>A
|
|
|
|
NM_001267550.2(TTN):c.50595G>A (p.Gly16865=)
|
|
|
|
NM_001267550.2(TTN):c.50595G>C (p.Gly16865=)
|
rs759412469
|
|
|
NM_001267550.2(TTN):c.50598A>G (p.Arg16866=)
|
|
|
|
NM_001267550.2(TTN):c.50607T>C (p.Ile16869=)
|
|
|
|
NM_001267550.2(TTN):c.50610C>T (p.Ala16870=)
|
rs908946588
|
|
|
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)
|
rs397517601
|
|
|
NM_001267550.2(TTN):c.50640T>C (p.Gly16880=)
|
rs2154199840
|
|
|
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter)
|
rs2056330918
|
|
|
NM_001267550.2(TTN):c.50679A>C (p.Pro16893=)
|
|
|
|
NM_001267550.2(TTN):c.50692A>T (p.Lys16898Ter)
|
|
|
|
NM_001267550.2(TTN):c.50728T>C (p.Leu16910=)
|
|
|
|
NM_001267550.2(TTN):c.5073dup (p.Gly1692fs)
|
|
|
|
NM_001267550.2(TTN):c.50746del (p.Glu16916fs)
|
|
|
|
NM_001267550.2(TTN):c.50749G>A (p.Gly16917Ser)
|
rs1553696081
|
|
|
NM_001267550.2(TTN):c.50784G>A (p.Val16928=)
|
rs746259990
|
|
|
NM_001267550.2(TTN):c.50787_50788del (p.Arg16929fs)
|
|
|
|
NM_001267550.2(TTN):c.50796T>C (p.Asn16932=)
|
rs2056306843
|
|
|
NM_001267550.2(TTN):c.50805T>C (p.Gly16935=)
|
rs2154199746
|
|
|
NM_001267550.2(TTN):c.50811C>T (p.Ser16937=)
|
rs780845171
|
|
|
NM_001267550.2(TTN):c.50817A>G (p.Pro16939=)
|
|
|
|
NM_001267550.2(TTN):c.50844C>T (p.Ala16948=)
|
rs2154199729
|
|
|
NM_001267550.2(TTN):c.50850C>T (p.Asp16950=)
|
rs200700386
|
|
|
NM_001267550.2(TTN):c.50857+10C>G
|
rs1553695761
|
|
|
NM_001267550.2(TTN):c.50857+15T>A
|
rs772407807
|
|
|
NM_001267550.2(TTN):c.50857+1G>A
|
rs2154199718
|
|
|
NM_001267550.2(TTN):c.50857+20T>C
|
|
|
|
NM_001267550.2(TTN):c.50857+9dup
|
rs2154199714
|
|
|
NM_001267550.2(TTN):c.50858-8T>A
|
|
|
|
NM_001267550.2(TTN):c.50859C>A (p.Cys16953Ter)
|
rs2154199623
|
|
|
NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter)
|
rs794729268
|
|
|
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val)
|
rs372013419
|
|
|
NM_001267550.2(TTN):c.50874C>T (p.Asp16958=)
|
rs2154199603
|
|
|
NM_001267550.2(TTN):c.50895T>C (p.Ile16965=)
|
|
|
|
NM_001267550.2(TTN):c.50898T>C (p.Val16966=)
|
|
|
|
NM_001267550.2(TTN):c.50914_50918del (p.Leu16972fs)
|
rs2056249919
|
|
|
NM_001267550.2(TTN):c.50919C>T (p.Ser16973=)
|
|
|
|
NM_001267550.2(TTN):c.50955T>C (p.Thr16985=)
|
rs2154199554
|
|
|
NM_001267550.2(TTN):c.50985T>G (p.Val16995=)
|
rs2154199535
|
|
|
NM_001267550.2(TTN):c.50994_50997dup (p.Arg17000Ter)
|
rs1413836585
|
|
|
NM_001267550.2(TTN):c.50997T>C (p.Asp16999=)
|
|
|
|
NM_001267550.2(TTN):c.51001T>C (p.Leu17001=)
|
rs2154199523
|
|
|
NM_001267550.2(TTN):c.51021C>T (p.His17007=)
|
rs2154199510
|
|
|
NM_001267550.2(TTN):c.51024C>A (p.Ile17008=)
|
|
|
|
NM_001267550.2(TTN):c.51037G>T (p.Glu17013Ter)
|
rs1060500500
|
|
|
NM_001267550.2(TTN):c.51060A>G (p.Ala17020=)
|
rs1553694864
|
|
|
NM_001267550.2(TTN):c.51060dup (p.Asp17021fs)
|
rs2154199483
|
|
|
NM_001267550.2(TTN):c.51069A>C (p.Gly17023=)
|
|
|
|
NM_001267550.2(TTN):c.51090G>A (p.Glu17030=)
|
rs2154199469
|
|
|
NM_001267550.2(TTN):c.51114C>A (p.Ala17038=)
|
|
|
|
NM_001267550.2(TTN):c.51114C>T (p.Ala17038=)
|
rs2154199447
|
|
|
NM_001267550.2(TTN):c.51123T>C (p.Asn17041=)
|
|
|
|
NM_001267550.2(TTN):c.51126C>G (p.Val17042=)
|
rs2154199438
|
|
|
NM_001267550.2(TTN):c.51136+10_51136+13dup
|
|
|
|
NM_001267550.2(TTN):c.51136+18A>G
|
|
|
|
NM_001267550.2(TTN):c.51136+1del
|
rs2154199433
|
|
|
NM_001267550.2(TTN):c.51136+3A>G
|
|
|
|
NM_001267550.2(TTN):c.51136+8T>C
|
rs2154199424
|
|
|
NM_001267550.2(TTN):c.51144T>G (p.Pro17048=)
|
|
|
|
NM_001267550.2(TTN):c.51159T>C (p.Asp17053=)
|
|
|
|
NM_001267550.2(TTN):c.51193A>T (p.Lys17065Ter)
|
|
|
|
NM_001267550.2(TTN):c.51203_51224dup (p.Thr17077_Pro17078insSerArgIleTerGlyThr)
|
rs2154198963
|
|
|
NM_001267550.2(TTN):c.51225T>A (p.Gly17075=)
|
|
|
|
NM_001267550.2(TTN):c.51229_51230del (p.Thr17077fs)
|
rs2056008282
|
|
|
NM_001267550.2(TTN):c.51234A>C (p.Pro17078=)
|
rs1553693459
|
|
|
NM_001267550.2(TTN):c.51234_51237dup (p.Leu17080fs)
|
rs1553693444
|
|
|
NM_001267550.2(TTN):c.51243T>C (p.His17081=)
|
|
|
|
NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs)
|
rs1576402791
|
|
|
NM_001267550.2(TTN):c.51246T>C (p.Tyr17082=)
|
rs2154198955
|
|
|
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=)
|
rs532589236
|
|
|
NM_001267550.2(TTN):c.51285A>T (p.Ile17095=)
|
|
|
|
NM_001267550.2(TTN):c.51288A>C (p.Pro17096=)
|
rs1228172742
|
|
|
NM_001267550.2(TTN):c.51303G>A (p.Glu17101=)
|
|
|
|
NM_001267550.2(TTN):c.51306C>T (p.Asn17102=)
|
|
|
|
NM_001267550.2(TTN):c.51310C>T (p.Leu17104=)
|
rs1060503959
|
|
|
NM_001267550.2(TTN):c.51315A>T (p.Ser17105=)
|
|
|
|
NM_001267550.2(TTN):c.51338C>A (p.Pro17113Gln)
|
rs763635220
|
|
|
NM_001267550.2(TTN):c.5133C>T (p.Ser1711=)
|
|
|
|
NM_001267550.2(TTN):c.51342T>C (p.Asn17114=)
|
|
|
|
NM_001267550.2(TTN):c.51345T>C (p.Gly17115=)
|
rs2154198924
|
|
|
NM_001267550.2(TTN):c.51351C>T (p.Tyr17117=)
|
|
|
|
NM_001267550.2(TTN):c.51354C>T (p.Phe17118=)
|
|
|
|
NM_001267550.2(TTN):c.51366A>T (p.Lys17122Asn)
|
rs1553693116
|
|
|
NM_001267550.2(TTN):c.51372C>T (p.Val17124=)
|
rs1345551958
|
|
|
NM_001267550.2(TTN):c.513A>G (p.Ser171=)
|
|
|
|
NM_001267550.2(TTN):c.51436+13A>T
|
|
|
|
NM_001267550.2(TTN):c.51436+16G>A
|
|
|
|
NM_001267550.2(TTN):c.51436+19G>A
|
|
|
|
NM_001267550.2(TTN):c.51436+1G>T
|
rs761807131
|
|
|
NM_001267550.2(TTN):c.51436+2T>C
|
|
|
|
NM_001267550.2(TTN):c.51436+5G>C
|
rs2055951790
|
|
|
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter)
|
rs906494713
|
|
|
NM_001267550.2(TTN):c.51437-13T>C
|
|
|
|
NM_001267550.2(TTN):c.51437-13dup
|
|
|
|
NM_001267550.2(TTN):c.51437-17T>A
|
rs1013983143
|
|
|
NM_001267550.2(TTN):c.51444del (p.Asp17149fs)
|
rs1362409861
|
|
|
NM_001267550.2(TTN):c.51449del (p.Pro17150fs)
|
rs2055912067
|
|
|
NM_001267550.2(TTN):c.51454G>A (p.Val17152Ile)
|
rs1553692607
|
|
|
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs)
|
rs886043718
|
|
|
NM_001267550.2(TTN):c.51471T>C (p.His17157=)
|
rs2154198757
|
|
|
NM_001267550.2(TTN):c.51480A>C (p.Thr17160=)
|
rs2154198755
|
|
|
NM_001267550.2(TTN):c.51501A>G (p.Thr17167=)
|
rs2154198745
|
|
|
NM_001267550.2(TTN):c.51524dup (p.Gly17176fs)
|
|
|
|
NM_001267550.2(TTN):c.51525del (p.Ser17177fs)
|
rs1553692435
|
|
|
NM_001267550.2(TTN):c.51544_51545del (p.Tyr17182fs)
|
|
|
|
NM_001267550.2(TTN):c.51570T>G (p.Gly17190=)
|
rs876657607
|
|
|
NM_001267550.2(TTN):c.51574G>T (p.Glu17192Ter)
|
|
|
|
NM_001267550.2(TTN):c.51576_51577del (p.Arg17193fs)
|
rs2154198710
|
|
|
NM_001267550.2(TTN):c.51591C>T (p.Cys17197=)
|
|
|
|
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer)
|
rs1553692107
|
|
|
NM_001267550.2(TTN):c.51633A>G (p.Gly17211=)
|
|
|
|
NM_001267550.2(TTN):c.51633A>T (p.Gly17211=)
|
rs879091553
|
|
|
NM_001267550.2(TTN):c.51634C>T (p.Leu17212Phe)
|
rs1473716049
|
|
|
NM_001267550.2(TTN):c.51645G>A (p.Gly17215=)
|
|
|
|
NM_001267550.2(TTN):c.51648del (p.Glu17217fs)
|
rs1553692140
|
|
|
NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter)
|
rs1060500503
|
|
|
NM_001267550.2(TTN):c.51663T>C (p.Arg17221=)
|
rs2154198663
|
|
|
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter)
|
rs748956593
|
|
|
NM_001267550.2(TTN):c.51672A>T (p.Ala17224=)
|
|
|
|
NM_001267550.2(TTN):c.51708T>A (p.Ala17236=)
|
|
|
|
NM_001267550.2(TTN):c.51717A>G (p.Pro17239=)
|
rs2154198625
|
|
|
NM_001267550.2(TTN):c.51720C>G (p.Thr17240=)
|
|
|
|
NM_001267550.2(TTN):c.5172C>A (p.Cys1724Ter)
|
rs2154346258
|
|
|
NM_001267550.2(TTN):c.51739+10G>A
|
|
|
|
NM_001267550.2(TTN):c.51739+18G>C
|
|
|
|
NM_001267550.2(TTN):c.51739+1G>C
|
rs727504799
|
|
|
NM_001267550.2(TTN):c.51739+3A>G
|
|
|
|
NM_001267550.2(TTN):c.51739+9T>A
|
|
|
|
NM_001267550.2(TTN):c.51740-13A>G
|
|
|
|
NM_001267550.2(TTN):c.51740-17G>T
|
rs1271846679
|
|
|
NM_001267550.2(TTN):c.51740-20A>G
|
|
|
|
NM_001267550.2(TTN):c.51740-20A>T
|
|
|
|
NM_001267550.2(TTN):c.51740-4A>G
|
rs774875894
|
|
|
NM_001267550.2(TTN):c.51769C>T (p.Leu17257=)
|
rs1576391726
|
|
|
NM_001267550.2(TTN):c.51782del (p.Arg17261fs)
|
rs2154198520
|
|
|
NM_001267550.2(TTN):c.51789T>C (p.Asp17263=)
|
rs768268605
|
|
|
NM_001267550.2(TTN):c.51798A>C (p.Ala17266=)
|
|
|
|
NM_001267550.2(TTN):c.51822A>G (p.Ser17274=)
|
|
|
|
NM_001267550.2(TTN):c.51833_51848del (p.Thr17278fs)
|
rs794729391
|
|
|
NM_001267550.2(TTN):c.51834_51838dup (p.Thr17280fs)
|
rs2154198494
|
|
|
NM_001267550.2(TTN):c.51840A>T (p.Thr17280=)
|
|
|
|
NM_001267550.2(TTN):c.51843G>A (p.Trp17281Ter)
|
rs1559759828
|
|
|
NM_001267550.2(TTN):c.5184C>A (p.Pro1728=)
|
|
|
|
NM_001267550.2(TTN):c.51870A>G (p.Pro17290=)
|
rs1060503957
|
|
|
NM_001267550.2(TTN):c.51870del (p.Glu17291fs)
|
rs1553691320
|
|
|
NM_001267550.2(TTN):c.51871G>T (p.Glu17291Ter)
|
|
|
|
NM_001267550.2(TTN):c.51912G>A (p.Arg17304=)
|
rs2154198439
|
|
|
NM_001267550.2(TTN):c.51913A>T (p.Lys17305Ter)
|
|
|
|
NM_001267550.2(TTN):c.51913_51916del (p.Lys17305fs)
|
rs747513278
|
|
|
NM_001267550.2(TTN):c.51919G>T (p.Glu17307Ter)
|
rs2154198436
|
|
|
NM_001267550.2(TTN):c.51925C>T (p.Gln17309Ter)
|
|
|
|
NM_001267550.2(TTN):c.51928GAA[2] (p.Glu17312del)
|
rs780745206
|
|
|
NM_001267550.2(TTN):c.51938C>A (p.Pro17313Gln)
|
rs372927085
|
|
|
NM_001267550.2(TTN):c.51946C>T (p.Leu17316=)
|
|
|
|
NM_001267550.2(TTN):c.51947T>G (p.Leu17316Arg)
|
rs368529230
|
|
|
NM_001267550.2(TTN):c.51958C>T (p.Gln17320Ter)
|
rs2055753321
|
|
|
NM_001267550.2(TTN):c.51965dup (p.Leu17322fs)
|
|
|
|
NM_001267550.2(TTN):c.5196A>C (p.Pro1732=)
|
rs142262519
|
|
|
NM_001267550.2(TTN):c.51986A>T (p.Lys17329Met)
|
rs1060500490
|
|
|
NM_001267550.2(TTN):c.51987G>A (p.Lys17329=)
|
|
|
|
NM_001267550.2(TTN):c.51991G>C (p.Glu17331Gln)
|
rs547986881
|
|
|
NM_001267550.2(TTN):c.52000C>T (p.Leu17334=)
|
|
|
|
NM_001267550.2(TTN):c.52021C>A (p.Arg17341=)
|
|
|
|
NM_001267550.2(TTN):c.52035T>C (p.Gly17345=)
|
rs2154198349
|
|
|
NM_001267550.2(TTN):c.52041T>C (p.Tyr17347=)
|
rs2154198344
|
|
|
NM_001267550.2(TTN):c.5204del (p.Val1735fs)
|
|
|
|
NM_001267550.2(TTN):c.52050A>G (p.Lys17350=)
|
rs1559756831
|
|
|
NM_001267550.2(TTN):c.52063_52064insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATNNNNNNNNNNNNGAAAATGACC (p.Asp17354_His17355insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspXaaXaaXaaXaaGluAsnAsp)
|
rs2154198326
|
|
|
NM_001267550.2(TTN):c.52065C>T (p.His17355=)
|
|
|
|
NM_001267550.2(TTN):c.52068T>C (p.Gly17356=)
|
|
|
|
NM_001267550.2(TTN):c.52077A>T (p.Lys17359Asn)
|
rs1167384081
|
|
|
NM_001267550.2(TTN):c.52080T>A (p.Ala17360=)
|
rs2154198311
|
|
|
NM_001267550.2(TTN):c.52083T>A (p.Pro17361=)
|
|
|
|
NM_001267550.2(TTN):c.52085G>A (p.Cys17362Tyr)
|
rs1553690569
|
|
|
NM_001267550.2(TTN):c.52086T>C (p.Cys17362=)
|
rs1057523625
|
|
|
NM_001267550.2(TTN):c.52102+16T>C
|
|
|
|
NM_001267550.2(TTN):c.52102+5G>C
|
rs886042399
|
|
|
NM_001267550.2(TTN):c.52102+7C>T
|
|
|
|
NM_001267550.2(TTN):c.52102+8A>G
|
|
|
|
NM_001267550.2(TTN):c.52103-12C>G
|
|
|
|
NM_001267550.2(TTN):c.52103-1G>A
|
rs2154197995
|
|
|
NM_001267550.2(TTN):c.52103-20G>A
|
|
|
|
NM_001267550.2(TTN):c.52103-31_52103-18del
|
rs778561939
|
|
|
NM_001267550.2(TTN):c.52112G>A (p.Gly17371Glu)
|
rs794729455
|
|
|
NM_001267550.2(TTN):c.52113A>C (p.Gly17371=)
|
|
|
|
NM_001267550.2(TTN):c.52128T>C (p.Phe17376=)
|
|
|
|
NM_001267550.2(TTN):c.52150dup (p.Thr17384fs)
|
rs2154197954
|
|
|
NM_001267550.2(TTN):c.52152C>T (p.Thr17384=)
|
rs1004455055
|
|
|
NM_001267550.2(TTN):c.52161T>C (p.Leu17387=)
|
|
|
|
NM_001267550.2(TTN):c.52216T>C (p.Leu17406=)
|
rs1576379924
|
|
|
NM_001267550.2(TTN):c.52226_52227del (p.Lys17409fs)
|
rs2055549415
|
|
|
NM_001267550.2(TTN):c.52226_52229del (p.Lys17409fs)
|
rs727503615
|
|
|
NM_001267550.2(TTN):c.52233_52237del (p.Lys17413fs)
|
rs2055544893
|
|
|
NM_001267550.2(TTN):c.5223T>C (p.Asp1741=)
|
rs1035862701
|
|
|
NM_001267550.2(TTN):c.52242C>G (p.Pro17414=)
|
|
|
|
NM_001267550.2(TTN):c.52251A>G (p.Glu17417=)
|
rs1576379164
|
|
|
NM_001267550.2(TTN):c.5226A>G (p.Gly1742=)
|
rs2154346236
|
|
|
NM_001267550.2(TTN):c.52290T>C (p.Tyr17430=)
|
rs990974705
|
|
|
NM_001267550.2(TTN):c.52302A>G (p.Lys17434=)
|
|
|
|
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer)
|
rs794729323
|
|
|
NM_001267550.2(TTN):c.52316_52317dup (p.Glu17440fs)
|
|
|
|
NM_001267550.2(TTN):c.52317dup (p.Glu17440fs)
|
|
|
|
NM_001267550.2(TTN):c.52326C>T (p.Leu17442=)
|
|
|
|
NM_001267550.2(TTN):c.52332T>G (p.Arg17444=)
|
|
|
|
NM_001267550.2(TTN):c.52335A>G (p.Val17445=)
|
|
|
|
NM_001267550.2(TTN):c.52358del (p.Pro17453fs)
|
rs2154197774
|
|
|
NM_001267550.2(TTN):c.5235T>G (p.Leu1745=)
|
|
|
|
NM_001267550.2(TTN):c.52385T>A (p.Leu17462His)
|
rs1216814159
|
|
|
NM_001267550.2(TTN):c.5238A>G (p.Glu1746=)
|
rs1054040157
|
|
|
NM_001267550.2(TTN):c.52405+10C>G
|
rs369447385
|
|
|
NM_001267550.2(TTN):c.52405+14G>A
|
|
|
|
NM_001267550.2(TTN):c.52405+19C>G
|
rs1553689081
|
|
|
NM_001267550.2(TTN):c.52405+1G>T
|
|
|
|
NM_001267550.2(TTN):c.52405+2T>C
|
|
|
|
NM_001267550.2(TTN):c.52406-11T>A
|
|
|
|
NM_001267550.2(TTN):c.52406-12dup
|
rs1553688916
|
|
|
NM_001267550.2(TTN):c.52406-16_52406-14dup
|
rs756874338
|
|
|
NM_001267550.2(TTN):c.52406-18A>G
|
|
|
|
NM_001267550.2(TTN):c.52406-20A>C
|
|
|
|
NM_001267550.2(TTN):c.52406-5A>G
|
|
|
|
NM_001267550.2(TTN):c.52406-6T>A
|
rs727504767
|
|
|
NM_001267550.2(TTN):c.52406-8_52406-6del
|
|
|
|
NM_001267550.2(TTN):c.52410A>G (p.Pro17470=)
|
|
|
|
NM_001267550.2(TTN):c.52413T>A (p.Pro17471=)
|
rs767409447
|
|
|
NM_001267550.2(TTN):c.52413T>G (p.Pro17471=)
|
|
|
|
NM_001267550.2(TTN):c.52434T>C (p.Ile17478=)
|
rs554368924
|
|
|
NM_001267550.2(TTN):c.52462C>T (p.Leu17488=)
|
rs2154197612
|
|
|
NM_001267550.2(TTN):c.52473G>A (p.Trp17491Ter)
|
rs794729271
|
|
|
NM_001267550.2(TTN):c.52499_52504delinsAGTAA (p.Pro17500_Leu17502delinsGlnTer)
|
rs1559748217
|
|
|
NM_001267550.2(TTN):c.52504T>C (p.Leu17502=)
|
rs2154197574
|
|
|
NM_001267550.2(TTN):c.52509T>G (p.Gly17503=)
|
|
|
|
NM_001267550.2(TTN):c.52512C>G (p.Tyr17504Ter)
|
rs1559748120
|
|
|
NM_001267550.2(TTN):c.52518T>G (p.Leu17506=)
|
|
|
|
NM_001267550.2(TTN):c.52521A>G (p.Glu17507=)
|
|
|
|
NM_001267550.2(TTN):c.52524A>T (p.Lys17508Asn)
|
rs1060500466
|
|
|
NM_001267550.2(TTN):c.52530_52535del (p.Glu17510_Asn17512delinsAsp)
|
rs1553688489
|
|
|
NM_001267550.2(TTN):c.52536C>T (p.Asn17512=)
|
rs199615557
|
|
|
NM_001267550.2(TTN):c.52545T>C (p.His17515=)
|
rs766537771
|
|
|
NM_001267550.2(TTN):c.52546del (p.Trp17516fs)
|
|
|
|
NM_001267550.2(TTN):c.52551del (p.Arg17518fs)
|
|
|
|
NM_001267550.2(TTN):c.52569T>A (p.Leu17523=)
|
|
|
|
NM_001267550.2(TTN):c.5256T>A (p.Arg1752=)
|
rs2154346223
|
|
|
NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer)
|
rs1064792915
|
|
|
NM_001267550.2(TTN):c.52590T>C (p.Asn17530=)
|
rs777245474
|
|
|
NM_001267550.2(TTN):c.52604T>G (p.Leu17535Ter)
|
|
|
|
NM_001267550.2(TTN):c.52607_52609del (p.Glu17536del)
|
rs755947249
|
|
|
NM_001267550.2(TTN):c.5260A>G (p.Ile1754Val)
|
rs780379544
|
|
|
NM_001267550.2(TTN):c.52619_52620del (p.Tyr17540fs)
|
|
|
|
NM_001267550.2(TTN):c.52620T>C (p.Tyr17540=)
|
|
|
|
NM_001267550.2(TTN):c.52629A>G (p.Arg17543=)
|
rs748001472
|
|
|
NM_001267550.2(TTN):c.5262C>A (p.Ile1754=)
|
|
|
|
NM_001267550.2(TTN):c.52632A>G (p.Val17544=)
|
|
|
|
NM_001267550.2(TTN):c.52656T>A (p.Pro17552=)
|
rs371031259
|
|
|
NM_001267550.2(TTN):c.52668T>C (p.Ser17556=)
|
rs2154197457
|
|
|
NM_001267550.2(TTN):c.52671A>G (p.Pro17557=)
|
rs377063235
|
|
|
NM_001267550.2(TTN):c.52671A>T (p.Pro17557=)
|
rs377063235
|
|
|
NM_001267550.2(TTN):c.52683C>T (p.Pro17561=)
|
|
|
|
NM_001267550.2(TTN):c.52705+15A>C
|
|
|
|
NM_001267550.2(TTN):c.52705+20G>A
|
|
|
|
NM_001267550.2(TTN):c.52706-11A>G
|
|
|
|
NM_001267550.2(TTN):c.52706-1G>C
|
rs2055351447
|
|
|
NM_001267550.2(TTN):c.52706-1G>T
|
|
|
|
NM_001267550.2(TTN):c.52731_52732del (p.Arg17577fs)
|
rs878854315
|
|
|
NM_001267550.2(TTN):c.52736del (p.Thr17579fs)
|
rs2154197312
|
|
|
NM_001267550.2(TTN):c.52746C>T (p.Ser17582=)
|
rs761374387
|
|
|
NM_001267550.2(TTN):c.5274G>A (p.Gly1758=)
|
|
|
|
NM_001267550.2(TTN):c.52767dup (p.Trp17590fs)
|
rs2154197298
|
|
|
NM_001267550.2(TTN):c.52778del (p.Pro17593fs)
|
|
|
|
NM_001267550.2(TTN):c.5277C>T (p.Tyr1759=)
|
|
|
|
NM_001267550.2(TTN):c.52801del (p.Ile17601fs)
|
rs2154197283
|
|
|
NM_001267550.2(TTN):c.52803T>C (p.Ile17601=)
|
|
|
|
NM_001267550.2(TTN):c.52818T>C (p.Val17606=)
|
|
|
|
NM_001267550.2(TTN):c.52825del (p.Gln17609fs)
|
rs2055323171
|
|
|
NM_001267550.2(TTN):c.52833T>C (p.Val17611=)
|
rs2154197266
|
|
|
NM_001267550.2(TTN):c.52842T>C (p.Asn17614=)
|
rs2154197264
|
|
|
NM_001267550.2(TTN):c.52847G>A (p.Trp17616Ter)
|
rs2055319182
|
|
|
NM_001267550.2(TTN):c.52859C>G (p.Thr17620Arg)
|
rs1559743128
|
|
|
NM_001267550.2(TTN):c.52878C>A (p.Val17626=)
|
rs775005179
|
|
|
NM_001267550.2(TTN):c.52878C>T (p.Val17626=)
|
rs775005179
|
|
|
NM_001267550.2(TTN):c.52881T>C (p.Arg17627=)
|
rs772763911
|
|
|
NM_001267550.2(TTN):c.5289T>C (p.Asp1763=)
|
|
|
|
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter)
|
rs2154197219
|
|
|
NM_001267550.2(TTN):c.52924_52930dup (p.Val17644fs)
|
rs2055292474
|
|
|
NM_001267550.2(TTN):c.5292T>C (p.Tyr1764=)
|
rs2154346214
|
|
|
NM_001267550.2(TTN):c.52947C>G (p.Ala17649=)
|
rs766991039
|
|
|
NM_001267550.2(TTN):c.5295C>A (p.Gly1765=)
|
rs145999395
|
|
|
NM_001267550.2(TTN):c.52965T>C (p.Pro17655=)
|
|
|
|
NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter)
|
rs2154197188
|
|
|
NM_001267550.2(TTN):c.52989G>A (p.Val17663=)
|
|
|
|
NM_001267550.2(TTN):c.53002+10G>T
|
rs370352450
|
|
|
NM_001267550.2(TTN):c.53002+13A>G
|
|
|
|
NM_001267550.2(TTN):c.53002+18A>G
|
|
|
|
NM_001267550.2(TTN):c.53002+9C>A
|
rs374671774
|
|
|
NM_001267550.2(TTN):c.53003-12C>A
|
|
|
|
NM_001267550.2(TTN):c.53003-15G>C
|
|
|
|
NM_001267550.2(TTN):c.53003-1G>C
|
rs2154197076
|
|
|
NM_001267550.2(TTN):c.53003-6C>T
|
|
|
|
NM_001267550.2(TTN):c.53003-7T>C
|
rs2055231136
|
|
|
NM_001267550.2(TTN):c.53004G>A (p.Glu17668=)
|
|
|
|
NM_001267550.2(TTN):c.53012_53030del (p.Ala17671fs)
|
|
|
|
NM_001267550.2(TTN):c.53020C>T (p.Leu17674=)
|
|
|
|
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs)
|
|
|
|
NM_001267550.2(TTN):c.53041G>T (p.Gly17681Ter)
|
|
|
|
NM_001267550.2(TTN):c.53047C>T (p.Gln17683Ter)
|
rs2154197059
|
|
|
NM_001267550.2(TTN):c.53060G>A (p.Gly17687Glu)
|
rs780672348
|
|
|
NM_001267550.2(TTN):c.53068_53069del (p.Thr17689_Leu17690insTer)
|
rs2154197040
|
|
|
NM_001267550.2(TTN):c.53094T>A (p.Gly17698=)
|
|
|
|
NM_001267550.2(TTN):c.5309G>A (p.Arg1770Lys)
|
rs1554007509
|
|
|
NM_001267550.2(TTN):c.53100T>C (p.Pro17700=)
|
rs373140387
|
|
|
NM_001267550.2(TTN):c.53109A>G (p.Thr17703=)
|
rs2154197018
|
|
|
NM_001267550.2(TTN):c.53121C>G (p.Thr17707=)
|
|
|
|
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)
|
rs886042743
|
|
|
NM_001267550.2(TTN):c.53139G>A (p.Leu17713=)
|
|
|
|
NM_001267550.2(TTN):c.53148C>T (p.Asp17716=)
|
rs2055191623
|
|
|
NM_001267550.2(TTN):c.53151T>G (p.Arg17717=)
|
|
|
|
NM_001267550.2(TTN):c.53156T>C (p.Val17719Ala)
|
rs564121832
|
|
|
NM_001267550.2(TTN):c.5316T>C (p.Ser1772=)
|
rs2154346206
|
|
|
NM_001267550.2(TTN):c.53182G>T (p.Glu17728Ter)
|
|
|
|
NM_001267550.2(TTN):c.53185C>T (p.Leu17729=)
|
rs767559716
|
|
|
NM_001267550.2(TTN):c.53206C>A (p.Arg17736=)
|
rs571702144
|
|
|
NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter)
|
rs571702144
|
|
|
NM_001267550.2(TTN):c.53217T>C (p.His17739=)
|
|
|
|
NM_001267550.2(TTN):c.53229G>T (p.Val17743=)
|
rs376469717
|
|
|
NM_001267550.2(TTN):c.53259del (p.Lys17753fs)
|
rs1389777522
|
|
|
NM_001267550.2(TTN):c.5325T>C (p.Ile1775=)
|
|
|
|
NM_001267550.2(TTN):c.53280A>G (p.Glu17760=)
|
|
|
|
NM_001267550.2(TTN):c.53287+10G>A
|
|
|
|
NM_001267550.2(TTN):c.53287+14C>T
|
|
|
|
NM_001267550.2(TTN):c.53287+1G>A
|
rs1064794266
|
|
|
NM_001267550.2(TTN):c.53287+4A>C
|
rs2055151641
|
|
|
NM_001267550.2(TTN):c.53287G>C (p.Asp17763His)
|
rs2055154464
|
|
|
NM_001267550.2(TTN):c.53288-13G>A
|
rs762229186
|
|
|
NM_001267550.2(TTN):c.53292C>T (p.Val17764=)
|
rs1060503942
|
|
|
NM_001267550.2(TTN):c.53301A>T (p.Pro17767=)
|
rs2154196840
|
|
|
NM_001267550.2(TTN):c.53315_53316del (p.Lys17772fs)
|
rs2154196835
|
|
|
NM_001267550.2(TTN):c.53328A>G (p.Thr17776=)
|
rs1576360008
|
|
|
NM_001267550.2(TTN):c.53346A>G (p.Leu17782=)
|
rs1434853063
|
|
|
NM_001267550.2(TTN):c.53354G>A (p.Trp17785Ter)
|
|
|
|
NM_001267550.2(TTN):c.53357C>A (p.Ser17786Tyr)
|
rs1060500485
|
|
|
NM_001267550.2(TTN):c.53359del (p.Asp17787fs)
|
rs2055103568
|
|
|
NM_001267550.2(TTN):c.53374G>T (p.Gly17792Ter)
|
rs2055101555
|
|
|
NM_001267550.2(TTN):c.53382T>C (p.Ser17794=)
|
|
|
|
NM_001267550.2(TTN):c.53393del (p.Gly17798fs)
|
rs794729324
|
|
|
NM_001267550.2(TTN):c.53442A>G (p.Pro17814=)
|
|
|
|
NM_001267550.2(TTN):c.53451T>C (p.Thr17817=)
|
|
|
|
NM_001267550.2(TTN):c.53454G>A (p.Glu17818=)
|
|
|
|
NM_001267550.2(TTN):c.53456_53457del (p.Arg17819fs)
|
|
|
|
NM_001267550.2(TTN):c.53478T>C (p.Gly17826=)
|
rs1437694138
|
|
|
NM_001267550.2(TTN):c.53508T>C (p.Arg17836=)
|
|
|
|
NM_001267550.2(TTN):c.53526del (p.Lys17842fs)
|
rs2154196732
|
|
|
NM_001267550.2(TTN):c.53538C>G (p.Gly17846=)
|
|
|
|
NM_001267550.2(TTN):c.53538C>T (p.Gly17846=)
|
rs768490325
|
|
|
NM_001267550.2(TTN):c.53564_53581+6del
|
|
|
|
NM_001267550.2(TTN):c.53574T>C (p.Asp17858=)
|
|
|
|
NM_001267550.2(TTN):c.53581+10_53581+12del
|
|
|
|
NM_001267550.2(TTN):c.53581+13G>T
|
|
|
|
NM_001267550.2(TTN):c.53581+1del
|
|
|
|
NM_001267550.2(TTN):c.53581G>A (p.Gly17861Ser)
|
rs1576357395
|
|
|
NM_001267550.2(TTN):c.53582-10C>G
|
|
|
|
NM_001267550.2(TTN):c.53582-10C>T
|
|
|
|
NM_001267550.2(TTN):c.53582-11T>G
|
|
|
|
NM_001267550.2(TTN):c.53582-12C>G
|
|
|
|
NM_001267550.2(TTN):c.53582-1G>A
|
rs2054612323
|
|
|
NM_001267550.2(TTN):c.53582-7G>T
|
rs2154195721
|
|
|
NM_001267550.2(TTN):c.53582-8G>C
|
rs2154195723
|
|
|
NM_001267550.2(TTN):c.53595T>G (p.Ser17865=)
|
rs2154195702
|
|
|
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)
|
rs1131691381
|
|
|
NM_001267550.2(TTN):c.53601G>A (p.Glu17867=)
|
|
|
|
NM_001267550.2(TTN):c.53602_53603del (p.Arg17868fs)
|
|
|
|
NM_001267550.2(TTN):c.53607C>T (p.Leu17869=)
|
|
|
|
NM_001267550.2(TTN):c.53609C>T (p.Thr17870Ile)
|
rs1553683359
|
|
|
NM_001267550.2(TTN):c.53616del (p.Glu17873fs)
|
|
|
|
NM_001267550.2(TTN):c.5361C>T (p.His1787=)
|
|
|
|
NM_001267550.2(TTN):c.53641C>G (p.Leu17881Val)
|
rs771801125
|
|
|
NM_001267550.2(TTN):c.53641C>T (p.Leu17881Phe)
|
rs771801125
|
|
|
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)
|
rs727503607
|
|
|
NM_001267550.2(TTN):c.53655G>A (p.Glu17885=)
|
|
|
|
NM_001267550.2(TTN):c.53659C>T (p.Arg17887Cys)
|
rs771307468
|
|
|
NM_001267550.2(TTN):c.53663G>C (p.Ser17888Thr)
|
rs778009539
|
|
|
NM_001267550.2(TTN):c.53703dup (p.Arg17902fs)
|
rs1576340321
|
|
|
NM_001267550.2(TTN):c.53706G>T (p.Arg17902=)
|
rs1576340244
|
|
|
NM_001267550.2(TTN):c.53743C>A (p.Arg17915=)
|
|
|
|
NM_001267550.2(TTN):c.53751C>T (p.Cys17917=)
|
rs2154195623
|
|
|
NM_001267550.2(TTN):c.53770del (p.Val17924fs)
|
rs1559723763
|
|
|
NM_001267550.2(TTN):c.53789_53790del (p.His17930fs)
|
|
|
|
NM_001267550.2(TTN):c.53808T>C (p.Arg17936=)
|
|
|
|
NM_001267550.2(TTN):c.53811C>T (p.Val17937=)
|
|
|
|
NM_001267550.2(TTN):c.53824G>T (p.Glu17942Ter)
|
rs2054564830
|
|
|
NM_001267550.2(TTN):c.53831del (p.Gly17944fs)
|
|
|
|
NM_001267550.2(TTN):c.53848dup (p.Leu17950fs)
|
rs1553682760
|
|
|
NM_001267550.2(TTN):c.53850A>C (p.Leu17950=)
|
rs1334197703
|
|
|
NM_001267550.2(TTN):c.53874T>C (p.Asp17958=)
|
rs2154195564
|
|
|
NM_001267550.2(TTN):c.53881+10C>A
|
|
|
|
NM_001267550.2(TTN):c.53881+15T>A
|
rs1473876344
|
|
|
NM_001267550.2(TTN):c.53881+19A>G
|
|
|
|
NM_001267550.2(TTN):c.53881+5G>T
|
rs753527304
|
|
|
NM_001267550.2(TTN):c.53881+6G>A
|
rs1553682704
|
|
|
NM_001267550.2(TTN):c.53882-13C>G
|
rs2154195469
|
|
|
NM_001267550.2(TTN):c.53882-4G>A
|
|
|
|
NM_001267550.2(TTN):c.53886T>A (p.Pro17962=)
|
|
|
|
NM_001267550.2(TTN):c.53898G>A (p.Lys17966=)
|
|
|
|
NM_001267550.2(TTN):c.538A>C (p.Asn180His)
|
rs864622712
|
|
|
NM_001267550.2(TTN):c.53903G>C (p.Arg17968Pro)
|
rs200100660
|
|
|
NM_001267550.2(TTN):c.53914C>T (p.Arg17972Ter)
|
|
|
|
NM_001267550.2(TTN):c.5395dup (p.Ser1799fs)
|
rs1064796474
|
|
|
NM_001267550.2(TTN):c.53961T>G (p.Pro17987=)
|
rs1279496154
|
|
|
NM_001267550.2(TTN):c.53965G>A (p.Asp17989Asn)
|
rs1060500481
|
|
|
NM_001267550.2(TTN):c.53976C>G (p.Gly17992=)
|
rs1553682339
|
|
|
NM_001267550.2(TTN):c.53979T>C (p.Leu17993=)
|
rs2154195417
|
|
|
NM_001267550.2(TTN):c.53988T>C (p.Pro17996=)
|
rs568556021
|
|
|
NM_001267550.2(TTN):c.53997dup (p.Trp18000fs)
|
|
|
|
NM_001267550.2(TTN):c.54000G>A (p.Trp18000Ter)
|
rs72646813
|
|
|
NM_001267550.2(TTN):c.54003C>G (p.Ser18001=)
|
|
|
|
NM_001267550.2(TTN):c.5400T>G (p.Leu1800=)
|
rs2154346164
|
|
|
NM_001267550.2(TTN):c.54033T>C (p.Thr18011=)
|
rs750248363
|
|
|
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser)
|
rs531242797
|
|
|
NM_001267550.2(TTN):c.54037del (p.Ala18013fs)
|
|
|
|
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter)
|
rs1553682168
|
|
|
NM_001267550.2(TTN):c.54084T>C (p.Thr18028=)
|
|
|
|
NM_001267550.2(TTN):c.540T>C (p.Asn180=)
|
|
|
|
NM_001267550.2(TTN):c.54112del (p.Glu18038fs)
|
rs794729325
|
|
|
NM_001267550.2(TTN):c.54135T>C (p.Val18045=)
|
|
|
|
NM_001267550.2(TTN):c.54148C>G (p.Arg18050Gly)
|
rs55734111
|
|
|
NM_001267550.2(TTN):c.54153T>C (p.Leu18051=)
|
rs2154195340
|
|
|
NM_001267550.2(TTN):c.54156C>T (p.Gly18052=)
|
rs2154195335
|
|
|
NM_001267550.2(TTN):c.5415A>G (p.Gln1805=)
|
rs943308158
|
|
|
NM_001267550.2(TTN):c.54186A>C (p.Val18062=)
|
rs2154195308
|
|
|
NM_001267550.2(TTN):c.54190+1G>A
|
rs756339648
|
|
|
NM_001267550.2(TTN):c.54190+1G>T
|
|
|
|
NM_001267550.2(TTN):c.54190+7G>A
|
rs2054437690
|
|
|
NM_001267550.2(TTN):c.54191-12A>C
|
|
|
|
NM_001267550.2(TTN):c.54191-14T>C
|
|
|
|
NM_001267550.2(TTN):c.54191-20C>T
|
|
|
|
NM_001267550.2(TTN):c.54191-8C>A
|
rs1181939066
|
|
|
NM_001267550.2(TTN):c.54198A>G (p.Pro18066=)
|
rs2154195238
|
|
|
NM_001267550.2(TTN):c.54207A>T (p.Pro18069=)
|
rs372686070
|
|
|
NM_001267550.2(TTN):c.54219T>A (p.Ala18073=)
|
rs2154195226
|
|
|
NM_001267550.2(TTN):c.54228del (p.Asp18076fs)
|
|
|
|
NM_001267550.2(TTN):c.54257G>A (p.Trp18086Ter)
|
rs2154195201
|
|
|
NM_001267550.2(TTN):c.54279T>C (p.Gly18093=)
|
|
|
|
NM_001267550.2(TTN):c.54290T>C (p.Ile18097Thr)
|
rs1553681465
|
|
|
NM_001267550.2(TTN):c.54294C>T (p.Thr18098=)
|
|
|
|
NM_001267550.2(TTN):c.54300T>C (p.Tyr18100=)
|
|
|
|
NM_001267550.2(TTN):c.54303T>C (p.Val18101=)
|
|
|
|
NM_001267550.2(TTN):c.54306T>C (p.Ile18102=)
|
|
|
|
NM_001267550.2(TTN):c.54314_54381+139delinsATAAGG
|
rs1576327348
|
|
|
NM_001267550.2(TTN):c.54320dup (p.Ser18108fs)
|
rs2054384043
|
|
|
NM_001267550.2(TTN):c.54321A>T (p.Ala18107=)
|
rs368021072
|
|
|
NM_001267550.2(TTN):c.54327G>A (p.Arg18109=)
|
|
|
|
NM_001267550.2(TTN):c.54333A>G (p.Lys18111=)
|
|
|
|
NM_001267550.2(TTN):c.54336A>C (p.Ala18112=)
|
|
|
|
NM_001267550.2(TTN):c.54357C>T (p.Asn18119=)
|
|
|
|
NM_001267550.2(TTN):c.54363T>C (p.Ala18121=)
|
|
|
|
NM_001267550.2(TTN):c.54378T>A (p.Tyr18126Ter)
|
rs769624146
|
|
|
NM_001267550.2(TTN):c.54382-12del
|
rs2154194835
|
|
|
NM_001267550.2(TTN):c.54382-19C>T
|
|
|
|
NM_001267550.2(TTN):c.54382-19_54382-18del
|
rs1281145051
|
|
|
NM_001267550.2(TTN):c.54382-9A>G
|
rs773903814
|
|
|
NM_001267550.2(TTN):c.54387G>A (p.Trp18129Ter)
|
rs1576323463
|
|
|
NM_001267550.2(TTN):c.54393T>C (p.Leu18131=)
|
|
|
|
NM_001267550.2(TTN):c.54427del (p.Ala18143fs)
|
|
|
|
NM_001267550.2(TTN):c.5442G>A (p.Gln1814=)
|
|
|
|
NM_001267550.2(TTN):c.54441T>C (p.Tyr18147=)
|
|
|
|
NM_001267550.2(TTN):c.54456G>A (p.Glu18152=)
|
rs2154194793
|
|
|
NM_001267550.2(TTN):c.5446del (p.Ile1816fs)
|
|
|
|
NM_001267550.2(TTN):c.54474A>G (p.Val18158=)
|
rs2154194788
|
|
|
NM_001267550.2(TTN):c.54481C>T (p.Gln18161Ter)
|
rs2054207747
|
|
|
NM_001267550.2(TTN):c.54483A>G (p.Gln18161=)
|
rs1559711872
|
|
|
NM_001267550.2(TTN):c.54489T>G (p.Pro18163=)
|
rs1010205941
|
|
|
NM_001267550.2(TTN):c.54496C>T (p.Leu18166Phe)
|
rs878953621
|
|
|
NM_001267550.2(TTN):c.54500_54509del (p.Pro18167fs)
|
|
|
|
NM_001267550.2(TTN):c.54507T>A (p.Pro18169=)
|
|
|
|
NM_001267550.2(TTN):c.54510A>G (p.Pro18170=)
|
rs2154194765
|
|
|
NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)
|
|
|
|
NM_001267550.2(TTN):c.54529del (p.Ala18177fs)
|
|
|
|
NM_001267550.2(TTN):c.54543A>G (p.Gly18181=)
|
rs2054191218
|
|
|
NM_001267550.2(TTN):c.54560G>A (p.Trp18187Ter)
|
rs794729274
|
|
|
NM_001267550.2(TTN):c.54579T>C (p.Asn18193=)
|
|
|
|
NM_001267550.2(TTN):c.54588_54589del (p.Pro18197fs)
|
|
|
|
NM_001267550.2(TTN):c.54594T>C (p.Ile18198=)
|
|
|
|
NM_001267550.2(TTN):c.54600C>G (p.Gly18200=)
|
|
|
|
NM_001267550.2(TTN):c.54605G>A (p.Trp18202Ter)
|
rs2154194712
|
|
|
NM_001267550.2(TTN):c.54620_54624del (p.Glu18207fs)
|
rs2054170313
|
|
|
NM_001267550.2(TTN):c.54621A>G (p.Glu18207=)
|
|
|
|
NM_001267550.2(TTN):c.54624G>A (p.Glu18208=)
|
|
|
|
NM_001267550.2(TTN):c.54636T>C (p.Tyr18212=)
|
rs397517620
|
|
|
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter)
|
rs397517620
|
|
|
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)
|
rs727503602
|
|
|
NM_001267550.2(TTN):c.54642A>T (p.Ser18214=)
|
|
|
|
NM_001267550.2(TTN):c.54648T>G (p.Val18216=)
|
rs2054164428
|
|
|
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
|
|
|
|
NM_001267550.2(TTN):c.54672G>A (p.Val18224=)
|
rs2154194671
|
|
|
NM_001267550.2(TTN):c.54678G>A (p.Leu18226=)
|
|
|
|
NM_001267550.2(TTN):c.5468C>T (p.Ala1823Val)
|
rs1554007106
|
|
|
NM_001267550.2(TTN):c.54696T>C (p.Asn18232=)
|
rs1576320031
|
|
|
NM_001267550.2(TTN):c.546T>C (p.Val182=)
|
|
|
|
NM_001267550.2(TTN):c.54717C>G (p.Gly18239=)
|
rs368468642
|
|
|
NM_001267550.2(TTN):c.54717C>T (p.Gly18239=)
|
|
|
|
NM_001267550.2(TTN):c.54727C>G (p.Gln18243Glu)
|
rs372447571
|
|
|
NM_001267550.2(TTN):c.5472T>C (p.His1824=)
|
|
|
|
NM_001267550.2(TTN):c.5477del (p.Gly1826fs)
|
rs2154346135
|
|
|
NM_001267550.2(TTN):c.54792G>A (p.Glu18264=)
|
|
|
|
NM_001267550.2(TTN):c.54793del (p.Val18265fs)
|
rs2154194616
|
|
|
NM_001267550.2(TTN):c.54809dup (p.Phe18271fs)
|
rs1553679072
|
|
|
NM_001267550.2(TTN):c.54811+14C>T
|
|
|
|
NM_001267550.2(TTN):c.54811+1G>A
|
rs1205836993
|
|
|
NM_001267550.2(TTN):c.54811+8_54811+14del
|
rs2154194593
|
|
|
NM_001267550.2(TTN):c.54812-14del
|
rs770542364
|
|
|
NM_001267550.2(TTN):c.54812-14dup
|
rs770542364
|
|
|
NM_001267550.2(TTN):c.54812-18T>C
|
rs561458732
|
|
|
NM_001267550.2(TTN):c.54812-1G>C
|
|
|
|
NM_001267550.2(TTN):c.54812-1G>T
|
rs1416873295
|
|
|
NM_001267550.2(TTN):c.54840A>G (p.Glu18280=)
|
rs2154193674
|
|
|
NM_001267550.2(TTN):c.54849T>C (p.Asp18283=)
|
|
|
|
NM_001267550.2(TTN):c.54856A>T (p.Lys18286Ter)
|
|
|
|
NM_001267550.2(TTN):c.54888A>G (p.Pro18296=)
|
rs1416503595
|
|
|
NM_001267550.2(TTN):c.54906C>T (p.Ser18302=)
|
rs1022932906
|
|
|
NM_001267550.2(TTN):c.54909A>T (p.Pro18303=)
|
|
|
|
NM_001267550.2(TTN):c.54921C>T (p.Tyr18307=)
|
|
|
|
NM_001267550.2(TTN):c.54935AAG[2] (p.Glu18314del)
|
rs1553675991
|
|
|
NM_001267550.2(TTN):c.54939A>G (p.Glu18313=)
|
|
|
|
NM_001267550.2(TTN):c.54957G>A (p.Trp18319Ter)
|
rs2053697356
|
|
|
NM_001267550.2(TTN):c.54976G>C (p.Asp18326His)
|
rs1553675887
|
|
|
NM_001267550.2(TTN):c.54993C>T (p.Thr18331=)
|
rs1356072895
|
|
|
NM_001267550.2(TTN):c.54999dup (p.Cys18334fs)
|
|
|
|
NM_001267550.2(TTN):c.55023G>A (p.Glu18341=)
|
rs2154193583
|
|
|
NM_001267550.2(TTN):c.55027A>C (p.Arg18343=)
|
|
|
|
NM_001267550.2(TTN):c.55036A>T (p.Arg18346Ter)
|
rs2053680009
|
|
|
NM_001267550.2(TTN):c.55062A>G (p.Glu18354=)
|
rs2154193559
|
|
|
NM_001267550.2(TTN):c.55080A>C (p.Pro18360=)
|
rs2154193552
|
|
|
NM_001267550.2(TTN):c.55089A>G (p.Thr18363=)
|
rs2154193546
|
|
|
NM_001267550.2(TTN):c.55107C>T (p.Ala18369=)
|
rs1316618431
|
|
|
NM_001267550.2(TTN):c.55117C>T (p.Gln18373Ter)
|
rs2053658622
|
|
|
NM_001267550.2(TTN):c.55119del (p.Glu18374fs)
|
rs2154193527
|
|
|
NM_001267550.2(TTN):c.55120+14C>A
|
|
|
|
NM_001267550.2(TTN):c.55120+14C>G
|
rs1327469041
|
|
|
NM_001267550.2(TTN):c.55120+17A>G
|
|
|
|
NM_001267550.2(TTN):c.55120_55120+3del
|
|
|
|
NM_001267550.2(TTN):c.55121-1G>A
|
rs1576297857
|
|
|
NM_001267550.2(TTN):c.55121-9G>A
|
|
|
|
NM_001267550.2(TTN):c.55129_55130insC (p.Glu18377fs)
|
rs2154193431
|
|
|
NM_001267550.2(TTN):c.5513del (p.Lys1838fs)
|
rs1554007001
|
|
|
NM_001267550.2(TTN):c.55153C>T (p.Gln18385Ter)
|
rs1559696193
|
|
|
NM_001267550.2(TTN):c.55155G>A (p.Gln18385=)
|
rs2053613119
|
|
|
NM_001267550.2(TTN):c.55156_55165del (p.Asp18386fs)
|
rs1553674975
|
|
|
NM_001267550.2(TTN):c.55168del (p.Cys18390fs)
|
|
|
|
NM_001267550.2(TTN):c.55173dup (p.Ala18392fs)
|
rs2154193411
|
|
|
NM_001267550.2(TTN):c.5519del (p.Lys1840fs)
|
|
|
|
NM_001267550.2(TTN):c.55203C>T (p.Val18401=)
|
|
|
|
NM_001267550.2(TTN):c.5520G>A (p.Lys1840=)
|
rs899577858
|
|
|
NM_001267550.2(TTN):c.55215C>A (p.Arg18405=)
|
|
|
|
NM_001267550.2(TTN):c.55235G>A (p.Trp18412Ter)
|
rs2053599652
|
|
|
NM_001267550.2(TTN):c.55239A>G (p.Glu18413=)
|
rs2053598732
|
|
|
NM_001267550.2(TTN):c.55245T>C (p.Asp18415=)
|
rs2053598248
|
|
|
NM_001267550.2(TTN):c.55269+13C>A
|
|
|
|
NM_001267550.2(TTN):c.55269+16T>C
|
rs2154193334
|
|
|
NM_001267550.2(TTN):c.55269+1del
|
rs2154193352
|
|
|
NM_001267550.2(TTN):c.55269+3A>G
|
|
|
|
NM_001267550.2(TTN):c.55269+9A>T
|
rs2154193342
|
|
|
NM_001267550.2(TTN):c.55270-10T>C
|
|
|
|
NM_001267550.2(TTN):c.55270-12C>A
|
|
|
|
NM_001267550.2(TTN):c.55270-20A>C
|
|
|
|
NM_001267550.2(TTN):c.55270-8T>C
|
rs770659997
|
|
|
NM_001267550.2(TTN):c.55271A>G (p.Asp18424Gly)
|
rs1553674352
|
|
|
NM_001267550.2(TTN):c.55275A>C (p.Gly18425=)
|
|
|
|
NM_001267550.2(TTN):c.55284C>T (p.Asp18428=)
|
rs1343753783
|
|
|
NM_001267550.2(TTN):c.55296T>C (p.Asp18432=)
|
|
|
|
NM_001267550.2(TTN):c.55299A>G (p.Ala18433=)
|
|
|
|
NM_001267550.2(TTN):c.5529T>C (p.Ile1843=)
|
|
|
|
NM_001267550.2(TTN):c.55302+3dup
|
rs1419991735
|
|
|
NM_001267550.2(TTN):c.55303-16T>C
|
|
|
|
NM_001267550.2(TTN):c.55303-1G>A
|
rs748369265
|
|
|
NM_001267550.2(TTN):c.55303-5T>C
|
|
|
|
NM_001267550.2(TTN):c.55303-6G>T
|
|
|
|
NM_001267550.2(TTN):c.55314T>C (p.Ala18438=)
|
rs997011257
|
|
|
NM_001267550.2(TTN):c.55314T>G (p.Ala18438=)
|
rs997011257
|
|
|
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter)
|
rs1440093502
|
|
|
NM_001267550.2(TTN):c.55366_55372dup (p.Ser18458fs)
|
|
|
|
NM_001267550.2(TTN):c.55392A>G (p.Lys18464=)
|
|
|
|
NM_001267550.2(TTN):c.55398A>G (p.Gly18466=)
|
rs2154193078
|
|
|
NM_001267550.2(TTN):c.55399C>T (p.Gln18467Ter)
|
rs2154193077
|
|
|
NM_001267550.2(TTN):c.5539C>T (p.Pro1847Ser)
|
rs138778559
|
|
|
NM_001267550.2(TTN):c.55403dup (p.Thr18469fs)
|
|
|
|
NM_001267550.2(TTN):c.55425dup (p.Val18476fs)
|
|
|
|
NM_001267550.2(TTN):c.55432+10A>G
|
rs751062759
|
|
|
NM_001267550.2(TTN):c.55432+14T>A
|
|
|
|
NM_001267550.2(TTN):c.55432+15G>T
|
|
|
|
NM_001267550.2(TTN):c.55432+1G>A
|
rs2053485503
|
|
|
NM_001267550.2(TTN):c.55432+1G>T
|
|
|
|
NM_001267550.2(TTN):c.55432+5G>A
|
|
|
|
NM_001267550.2(TTN):c.55433-16G>T
|
rs2154192999
|
|
|
NM_001267550.2(TTN):c.55433-20T>C
|
|
|
|
NM_001267550.2(TTN):c.55433-4A>G
|
rs1451088765
|
|
|
NM_001267550.2(TTN):c.55446A>G (p.Pro18482=)
|
|
|
|
NM_001267550.2(TTN):c.55449C>G (p.Pro18483=)
|
rs187366691
|
|
|
NM_001267550.2(TTN):c.5544G>A (p.Glu1848=)
|
|
|
|
NM_001267550.2(TTN):c.55452A>G (p.Lys18484=)
|
rs551509361
|
|
|
NM_001267550.2(TTN):c.55455T>C (p.Asp18485=)
|
|
|
|
NM_001267550.2(TTN):c.55460_55461del (p.Lys18487fs)
|
rs1064796230
|
|
|
NM_001267550.2(TTN):c.55464C>T (p.Val18488=)
|
|
|
|
NM_001267550.2(TTN):c.55485T>G (p.Ser18495Arg)
|
rs1213190093
|
|
|
NM_001267550.2(TTN):c.55497A>G (p.Ser18499=)
|
rs2154192958
|
|
|
NM_001267550.2(TTN):c.55522G>A (p.Gly18508Arg)
|
rs1060500511
|
|
|
NM_001267550.2(TTN):c.55548T>C (p.Ile18516=)
|
rs1248936680
|
|
|
NM_001267550.2(TTN):c.55555A>C (p.Arg18519=)
|
rs879182051
|
|
|
NM_001267550.2(TTN):c.55572A>G (p.Lys18524=)
|
rs2154192905
|
|
|
NM_001267550.2(TTN):c.55575C>G (p.Ala18525=)
|
rs774547565
|
|
|
NM_001267550.2(TTN):c.555T>C (p.Ala185=)
|
|
|
|
NM_001267550.2(TTN):c.55610C>T (p.Thr18537Ile)
|
rs1027035888
|
|
|
NM_001267550.2(TTN):c.55615G>A (p.Val18539Ile)
|
rs1060500557
|
|
|
NM_001267550.2(TTN):c.55620G>A (p.Val18540=)
|
|
|
|
NM_001267550.2(TTN):c.55639C>T (p.Gln18547Ter)
|
rs2053403381
|
|
|
NM_001267550.2(TTN):c.55656T>C (p.Arg18552=)
|
rs2154192845
|
|
|
NM_001267550.2(TTN):c.5565G>A (p.Gly1855=)
|
rs2154346095
|
|
|
NM_001267550.2(TTN):c.55682T>C (p.Ile18561Thr)
|
|
|
|
NM_001267550.2(TTN):c.55719C>T (p.Ala18573=)
|
|
|
|
NM_001267550.2(TTN):c.55719del (p.Arg18574fs)
|
rs2154192801
|
|
|
NM_001267550.2(TTN):c.55728G>A (p.Pro18576=)
|
rs727504598
|
|
|
NM_001267550.2(TTN):c.55728G>T (p.Pro18576=)
|
|
|
|
NM_001267550.2(TTN):c.55728del (p.Ile18577fs)
|
|
|
|
NM_001267550.2(TTN):c.55732+13dup
|
|
|
|
NM_001267550.2(TTN):c.55732+17A>C
|
|
|
|
NM_001267550.2(TTN):c.55732+3A>G
|
rs2154192792
|
|
|
NM_001267550.2(TTN):c.55732+4A>G
|
rs2053372615
|
|
|
NM_001267550.2(TTN):c.55732+9T>G
|
|
|
|
NM_001267550.2(TTN):c.55733-10A>G
|
rs2053334489
|
|
|
NM_001267550.2(TTN):c.55733-13A>C
|
|
|
|
NM_001267550.2(TTN):c.55733-13_55733-10del
|
|
|
|
NM_001267550.2(TTN):c.55733-18_55733-15del
|
|
|
|
NM_001267550.2(TTN):c.55734T>A (p.Tyr18578Ter)
|
rs2154192691
|
|
|
NM_001267550.2(TTN):c.55734T>C (p.Tyr18578=)
|
rs2154192691
|
|
|
NM_001267550.2(TTN):c.5574A>G (p.Ala1858=)
|
|
|
|
NM_001267550.2(TTN):c.55755dup (p.Leu18586fs)
|
rs2154192678
|
|
|
NM_001267550.2(TTN):c.55758C>T (p.Leu18586=)
|
|
|
|
NM_001267550.2(TTN):c.55761G>A (p.Lys18587=)
|
rs1576281379
|
|
|
NM_001267550.2(TTN):c.5577G>A (p.Arg1859=)
|
rs551538420
|
|
|
NM_001267550.2(TTN):c.55782C>T (p.Asn18594=)
|
|
|
|
NM_001267550.2(TTN):c.55788G>A (p.Val18596=)
|
rs769822399
|
|
|
NM_001267550.2(TTN):c.55791T>C (p.His18597=)
|
rs879162731
|
|
|
NM_001267550.2(TTN):c.55796C>A (p.Ser18599Ter)
|
rs2053315643
|
|
|
NM_001267550.2(TTN):c.55802_55803del (p.Lys18601fs)
|
|
|
|
NM_001267550.2(TTN):c.55806C>A (p.Pro18602=)
|
rs751325503
|
|
|
NM_001267550.2(TTN):c.55808dup (p.Lys18604fs)
|
|
|
|
NM_001267550.2(TTN):c.55812G>A (p.Lys18604=)
|
|
|
|
NM_001267550.2(TTN):c.55821G>T (p.Gly18607=)
|
rs2053309288
|
|
|
NM_001267550.2(TTN):c.55836C>G (p.Thr18612=)
|
rs1576280468
|
|
|
NM_001267550.2(TTN):c.55851G>A (p.Glu18617=)
|
|
|
|
NM_001267550.2(TTN):c.55851G>C (p.Glu18617Asp)
|
rs878854316
|
|
|
NM_001267550.2(TTN):c.55860A>G (p.Ala18620=)
|
rs1576280173
|
|
|
NM_001267550.2(TTN):c.55866C>T (p.Asp18622=)
|
|
|
|
NM_001267550.2(TTN):c.55884_55887del (p.Glu18629fs)
|
rs2154192604
|
|
|
NM_001267550.2(TTN):c.55885G>T (p.Glu18629Ter)
|
|
|
|
NM_001267550.2(TTN):c.55902C>T (p.Cys18634=)
|
|
|
|
NM_001267550.2(TTN):c.55909C>A (p.Arg18637Ser)
|
rs374151130
|
|
|
NM_001267550.2(TTN):c.55927C>T (p.Gln18643Ter)
|
|
|
|
NM_001267550.2(TTN):c.55935T>C (p.Thr18645=)
|
rs1466922998
|
|
|
NM_001267550.2(TTN):c.55938T>C (p.Val18646=)
|
|
|
|
NM_001267550.2(TTN):c.55950A>G (p.Val18650=)
|
|
|
|
NM_001267550.2(TTN):c.55953G>A (p.Glu18651=)
|
rs2154192533
|
|
|
NM_001267550.2(TTN):c.5595A>G (p.Thr1865=)
|
|
|
|
NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter)
|
rs764985774
|
|
|
NM_001267550.2(TTN):c.55992T>C (p.Ala18664=)
|
rs377441727
|
|
|
NM_001267550.2(TTN):c.55992T>G (p.Ala18664=)
|
rs377441727
|
|
|
NM_001267550.2(TTN):c.55998A>C (p.Gly18666=)
|
rs2154192488
|
|
|
NM_001267550.2(TTN):c.5601C>A (p.Tyr1867Ter)
|
|
|
|
NM_001267550.2(TTN):c.56031G>T (p.Val18677=)
|
|
|
|
NM_001267550.2(TTN):c.56034T>A (p.Thr18678=)
|
|
|
|
NM_001267550.2(TTN):c.56043C>T (p.Asp18681=)
|
rs2053230533
|
|
|
NM_001267550.2(TTN):c.56050+11A>G
|
|
|
|
NM_001267550.2(TTN):c.56050+13G>A
|
|
|
|
NM_001267550.2(TTN):c.56050+14T>A
|
rs2154192444
|
|
|
NM_001267550.2(TTN):c.56050+16C>T
|
|
|
|
NM_001267550.2(TTN):c.56050+1G>A
|
|
|
|
NM_001267550.2(TTN):c.56050+20_56050+21inv
|
|
|
|
NM_001267550.2(TTN):c.56050+7A>G
|
rs2154192455
|
|
|
NM_001267550.2(TTN):c.56050+9C>T
|
rs1190896210
|
|
|
NM_001267550.2(TTN):c.56051-10A>T
|
|
|
|
NM_001267550.2(TTN):c.56051-12dup
|
rs759957991
|
|
|
NM_001267550.2(TTN):c.56051-16T>A
|
|
|
|
NM_001267550.2(TTN):c.56051-17T>C
|
|
|
|
NM_001267550.2(TTN):c.56051-19C>T
|
|
|
|
NM_001267550.2(TTN):c.56051-6_56051-2del
|
rs2154191549
|
|
|
NM_001267550.2(TTN):c.56051-7_56051-5del
|
rs774966673
|
|
|
NM_001267550.2(TTN):c.56051-8T>C
|
|
|
|
NM_001267550.2(TTN):c.56052C>A (p.Cys18684Ter)
|
|
|
|
NM_001267550.2(TTN):c.56067T>A (p.Asp18689Glu)
|
rs1553667022
|
|
|
NM_001267550.2(TTN):c.56089G>T (p.Glu18697Ter)
|
rs1391010387
|
|
|
NM_001267550.2(TTN):c.56094A>G (p.Glu18698=)
|
|
|
|
NM_001267550.2(TTN):c.56118C>T (p.Ala18706=)
|
rs1559671858
|
|
|
NM_001267550.2(TTN):c.56121A>G (p.Lys18707=)
|
|
|
|
NM_001267550.2(TTN):c.56122del (p.Ile18708fs)
|
rs2154191490
|
|
|
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter)
|
rs1477101279
|
|
|
NM_001267550.2(TTN):c.56184C>T (p.Asn18728=)
|
|
|
|
NM_001267550.2(TTN):c.56190A>G (p.Glu18730=)
|
rs2154191450
|
|
|
NM_001267550.2(TTN):c.56191C>A (p.Pro18731Thr)
|
rs751457168
|
|
|
NM_001267550.2(TTN):c.56191C>T (p.Pro18731Ser)
|
rs751457168
|
|
|
NM_001267550.2(TTN):c.561G>T (p.Ser187=)
|
rs141444282
|
|
|
NM_001267550.2(TTN):c.56200_56215dup (p.Asn18739delinsIleTer)
|
|
|
|
NM_001267550.2(TTN):c.56207C>A (p.Thr18736Asn)
|
rs1455791430
|
|
|
NM_001267550.2(TTN):c.56208C>T (p.Thr18736=)
|
|
|
|
NM_001267550.2(TTN):c.56214C>A (p.Val18738=)
|
rs2154191432
|
|
|
NM_001267550.2(TTN):c.56223G>C (p.Leu18741=)
|
|
|
|
NM_001267550.2(TTN):c.5622del (p.Trp1874fs)
|
|
|
|
NM_001267550.2(TTN):c.56232T>C (p.Asp18744=)
|
rs1404608401
|
|
|
NM_001267550.2(TTN):c.56238T>C (p.Thr18746=)
|
rs2154191418
|
|
|
NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter)
|
rs1559669986
|
|
|
NM_001267550.2(TTN):c.56259G>A (p.Gln18753=)
|
|
|
|
NM_001267550.2(TTN):c.56268G>A (p.Arg18756=)
|
|
|
|
NM_001267550.2(TTN):c.56275_56276dup (p.Gly18760fs)
|
|
|
|
NM_001267550.2(TTN):c.56286dup (p.Thr18763fs)
|
rs2154191397
|
|
|
NM_001267550.2(TTN):c.56287_56288dup (p.Ile18764fs)
|
|
|
|
NM_001267550.2(TTN):c.5630A>T (p.Asn1877Ile)
|
rs1554006798
|
|
|
NM_001267550.2(TTN):c.56319A>T (p.Ala18773=)
|
rs377569886
|
|
|
NM_001267550.2(TTN):c.5631T>C (p.Asn1877=)
|
|
|
|
NM_001267550.2(TTN):c.56343C>T (p.Val18781=)
|
rs2052719748
|
|
|
NM_001267550.2(TTN):c.56347+12A>G
|
|
|
|
NM_001267550.2(TTN):c.56347+15G>A
|
rs373557586
|
|
|
NM_001267550.2(TTN):c.56347+1G>A
|
rs1576251664
|
|
|
NM_001267550.2(TTN):c.56347+20G>A
|
|
|
|
NM_001267550.2(TTN):c.56347+31_56395del
|
|
|
|
NM_001267550.2(TTN):c.56348-19C>T
|
|
|
|
NM_001267550.2(TTN):c.56348-1G>A
|
rs2052685102
|
|
|
NM_001267550.2(TTN):c.56348-3del
|
|
|
|
NM_001267550.2(TTN):c.56348-7A>G
|
rs2154191302
|
|
|
NM_001267550.2(TTN):c.56355T>C (p.Pro18785=)
|
rs2154191292
|
|
|
NM_001267550.2(TTN):c.56364A>C (p.Pro18788=)
|
rs2154191288
|
|
|
NM_001267550.2(TTN):c.56387_56388del (p.Ser18796fs)
|
|
|
|
NM_001267550.2(TTN):c.56394A>C (p.Ser18798=)
|
rs2154191262
|
|
|
NM_001267550.2(TTN):c.56401C>T (p.Gln18801Ter)
|
|
|
|
NM_001267550.2(TTN):c.5640C>T (p.Leu1880=)
|
|
|
|
NM_001267550.2(TTN):c.56410C>T (p.Leu18804=)
|
rs2154191248
|
|
|
NM_001267550.2(TTN):c.56412A>G (p.Leu18804=)
|
rs2154191246
|
|
|
NM_001267550.2(TTN):c.56417G>A (p.Trp18806Ter)
|
rs2154191239
|
|
|
NM_001267550.2(TTN):c.56436T>C (p.Asp18812=)
|
rs2052662873
|
|
|
NM_001267550.2(TTN):c.56439T>C (p.Gly18813=)
|
|
|
|
NM_001267550.2(TTN):c.56453C>A (p.Thr18818Lys)
|
rs945270235
|
|
|
NM_001267550.2(TTN):c.56460T>C (p.Tyr18820=)
|
|
|
|
NM_001267550.2(TTN):c.56469G>A (p.Glu18823=)
|
|
|
|
NM_001267550.2(TTN):c.56487del (p.Lys18830fs)
|
|
|
|
NM_001267550.2(TTN):c.56495G>A (p.Trp18832Ter)
|
rs1576247054
|
|
|
NM_001267550.2(TTN):c.564T>C (p.Thr188=)
|
rs1487077494
|
|
|
NM_001267550.2(TTN):c.56549T>A (p.Leu18850Gln)
|
rs878854317
|
|
|
NM_001267550.2(TTN):c.56564_56576del (p.Tyr18855fs)
|
rs1294679653
|
|
|
NM_001267550.2(TTN):c.56583C>G (p.Ala18861=)
|
|
|
|
NM_001267550.2(TTN):c.56584C>T (p.Gln18862Ter)
|
|
|
|
NM_001267550.2(TTN):c.56595T>C (p.Tyr18865=)
|
rs886055261
|
|
|
NM_001267550.2(TTN):c.56598del (p.Ile18867fs)
|
rs1553664644
|
|
|
NM_001267550.2(TTN):c.56610T>C (p.Pro18870=)
|
|
|
|
NM_001267550.2(TTN):c.56625T>C (p.Pro18875=)
|
rs2154191131
|
|
|
NM_001267550.2(TTN):c.56631A>G (p.Thr18877=)
|
rs955370014
|
|
|
NM_001267550.2(TTN):c.56640C>T (p.Asn18880=)
|
rs200544272
|
|
|
NM_001267550.2(TTN):c.56645del (p.Phe18882fs)
|
rs2052619475
|
|
|
NM_001267550.2(TTN):c.56647+15dup
|
|
|
|
NM_001267550.2(TTN):c.56647+1G>A
|
rs397517624
|
|
|
NM_001267550.2(TTN):c.56647+6T>C
|
|
|
|
NM_001267550.2(TTN):c.56647+7A>G
|
|
|
|
NM_001267550.2(TTN):c.56647+9_56647+11del
|
|
|
|
NM_001267550.2(TTN):c.56648-14_56648-12del
|
|
|
|
NM_001267550.2(TTN):c.56648-6del
|
rs2154191014
|
|
|
NM_001267550.2(TTN):c.56648-7T>C
|
rs2154191016
|
|
|
NM_001267550.2(TTN):c.56670A>G (p.Lys18890=)
|
rs1559663225
|
|
|
NM_001267550.2(TTN):c.56685C>T (p.Ser18895=)
|
rs375403059
|
|
|
NM_001267550.2(TTN):c.56715G>A (p.Trp18905Ter)
|
|
|
|
NM_001267550.2(TTN):c.5672A>G (p.Tyr1891Cys)
|
rs547305291
|
|
|
NM_001267550.2(TTN):c.56730T>C (p.Tyr18910=)
|
|
|
|
NM_001267550.2(TTN):c.56739C>T (p.Gly18913=)
|
|
|
|
NM_001267550.2(TTN):c.56741del (p.Ser18914fs)
|
rs1553663867
|
|
|
NM_001267550.2(TTN):c.5674del (p.Asp1892fs)
|
rs2154346038
|
|
|
NM_001267550.2(TTN):c.56759G>A (p.Trp18920Ter)
|
rs2154190939
|
|
|
NM_001267550.2(TTN):c.56766A>G (p.Glu18922=)
|
|
|
|
NM_001267550.2(TTN):c.56783C>A (p.Ser18928Ter)
|
rs1576240126
|
|
|
NM_001267550.2(TTN):c.56790_56792dup (p.Trp18931Ter)
|
|
|
|
NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter)
|
rs1060500526
|
|
|
NM_001267550.2(TTN):c.56794A>T (p.Lys18932Ter)
|
rs2154190918
|
|
|
NM_001267550.2(TTN):c.56795del (p.Lys18932fs)
|
|
|
|
NM_001267550.2(TTN):c.56850G>C (p.Val18950=)
|
rs368068200
|
|
|
NM_001267550.2(TTN):c.56850G>T (p.Val18950=)
|
|
|
|
NM_001267550.2(TTN):c.56853del (p.Gly18952fs)
|
rs794729392
|
|
|
NM_001267550.2(TTN):c.56880A>G (p.Gln18960=)
|
|
|
|
NM_001267550.2(TTN):c.56884C>A (p.Arg18962=)
|
|
|
|
NM_001267550.2(TTN):c.5688C>T (p.Tyr1896=)
|
rs2154346032
|
|
|
NM_001267550.2(TTN):c.56892T>C (p.Tyr18964=)
|
|
|
|
NM_001267550.2(TTN):c.56900_56901del (p.Asn18967fs)
|
|
|
|
NM_001267550.2(TTN):c.56910C>G (p.Gly18970=)
|
|
|
|
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=)
|
rs148299739
|
|
|
NM_001267550.2(TTN):c.56925T>C (p.Ser18975=)
|
|
|
|
NM_001267550.2(TTN):c.56933C>G (p.Ser18978Ter)
|
|
|
|
NM_001267550.2(TTN):c.56940A>T (p.Pro18980=)
|
rs2154190819
|
|
|
NM_001267550.2(TTN):c.56941_56957del (p.Ala18981fs)
|
rs2154190805
|
|
|
NM_001267550.2(TTN):c.56949del (p.Arg18984fs)
|
|
|
|
NM_001267550.2(TTN):c.56962+10G>A
|
rs2154190782
|
|
|
NM_001267550.2(TTN):c.56962+19C>T
|
rs1018091646
|
|
|
NM_001267550.2(TTN):c.56962+1G>A
|
|
|
|
NM_001267550.2(TTN):c.56962+20C>G
|
|
|
|
NM_001267550.2(TTN):c.56962+20C>T
|
rs2154190767
|
|
|
NM_001267550.2(TTN):c.56963-16T>C
|
|
|
|
NM_001267550.2(TTN):c.56963-19G>A
|
rs369216122
|
|
|
NM_001267550.2(TTN):c.56963-19_56963-18delinsTC
|
rs2154190692
|
|
|
NM_001267550.2(TTN):c.56963-20C>T
|
|
|
|
NM_001267550.2(TTN):c.56979A>G (p.Pro18993=)
|
|
|
|
NM_001267550.2(TTN):c.56985C>G (p.Pro18995=)
|
|
|
|
NM_001267550.2(TTN):c.56999G>A (p.Trp19000Ter)
|
|
|
|
NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter)
|
rs878854318
|
|
|
NM_001267550.2(TTN):c.57015A>G (p.Ala19005=)
|
rs372661513
|
|
|
NM_001267550.2(TTN):c.57021G>A (p.Leu19007=)
|
|
|
|
NM_001267550.2(TTN):c.57030del (p.Pro19012fs)
|
rs2154190616
|
|
|
NM_001267550.2(TTN):c.57033C>G (p.Pro19011=)
|
rs1422490287
|
|
|
NM_001267550.2(TTN):c.57035dup (p.Leu19013fs)
|
rs1553662457
|
|
|
NM_001267550.2(TTN):c.57036A>C (p.Pro19012=)
|
|
|
|
NM_001267550.2(TTN):c.57037C>T (p.Leu19013=)
|
rs1163783293
|
|
|
NM_001267550.2(TTN):c.57041_57044del (p.Lys19014fs)
|
|
|
|
NM_001267550.2(TTN):c.57045T>C (p.Asp19015=)
|
rs755566823
|
|
|
NM_001267550.2(TTN):c.57057del (p.Lys19019_Val19020insTer)
|
rs1553662326
|
|
|
NM_001267550.2(TTN):c.57063T>C (p.Thr19021=)
|
rs2154190583
|
|
|
NM_001267550.2(TTN):c.57069C>G (p.Tyr19023Ter)
|
|
|
|
NM_001267550.2(TTN):c.5709A>G (p.Lys1903=)
|
rs1574655273
|
|
|
NM_001267550.2(TTN):c.57111+13G>A
|
|
|
|
NM_001267550.2(TTN):c.57111+15C>A
|
rs2154190538
|
|
|
NM_001267550.2(TTN):c.57111+3A>G
|
rs374844230
|
|
|
NM_001267550.2(TTN):c.57111_57111+9del
|
rs1553661994
|
|
|
NM_001267550.2(TTN):c.57112-13G>A
|
|
|
|
NM_001267550.2(TTN):c.57112-13G>T
|
|
|
|
NM_001267550.2(TTN):c.57112-15A>G
|
rs2154190198
|
|
|
NM_001267550.2(TTN):c.57112-17C>T
|
|
|
|
NM_001267550.2(TTN):c.57112-1G>A
|
rs2154190178
|
|
|
NM_001267550.2(TTN):c.57112-1G>C
|
rs2154190178
|
|
|
NM_001267550.2(TTN):c.57112-5C>T
|
rs2154190183
|
|
|
NM_001267550.2(TTN):c.57115A>T (p.Lys19039Ter)
|
|
|
|
NM_001267550.2(TTN):c.5713T>C (p.Tyr1905His)
|
rs1477069650
|
|
|
NM_001267550.2(TTN):c.57153A>G (p.Thr19051=)
|
|
|
|
NM_001267550.2(TTN):c.57177C>T (p.Tyr19059=)
|
|
|
|
NM_001267550.2(TTN):c.57189T>G (p.Val19063=)
|
rs1314872554
|
|
|
NM_001267550.2(TTN):c.57207T>C (p.Ala19069=)
|
rs1312323452
|
|
|
NM_001267550.2(TTN):c.57207T>G (p.Ala19069=)
|
rs1312323452
|
|
|
NM_001267550.2(TTN):c.57222T>G (p.Pro19074=)
|
rs2154190112
|
|
|
NM_001267550.2(TTN):c.57230_57231del (p.Val19077fs)
|
|
|
|
NM_001267550.2(TTN):c.57233_57234del (p.Thr19078fs)
|
|
|
|
NM_001267550.2(TTN):c.57250A>T (p.Lys19084Ter)
|
rs2052181050
|
|
|
NM_001267550.2(TTN):c.57255C>T (p.Asp19085=)
|
|
|
|
NM_001267550.2(TTN):c.57262+11A>G
|
|
|
|
NM_001267550.2(TTN):c.57262+11A>T
|
|
|
|
NM_001267550.2(TTN):c.57262+15T>C
|
|
|
|
NM_001267550.2(TTN):c.57262+18C>T
|
|
|
|
NM_001267550.2(TTN):c.57262G>A (p.Val19088Ile)
|
rs727505347
|
|
|
NM_001267550.2(TTN):c.57263-14dup
|
rs2154190004
|
|
|
NM_001267550.2(TTN):c.57263-20T>A
|
|
|
|
NM_001267550.2(TTN):c.57263-5T>C
|
|
|
|
NM_001267550.2(TTN):c.57263-6T>G
|
rs562237741
|
|
|
NM_001267550.2(TTN):c.57277C>T (p.Gln19093Ter)
|
|
|
|
NM_001267550.2(TTN):c.57295_57296insC (p.Arg19099fs)
|
rs2154189974
|
|
|
NM_001267550.2(TTN):c.57300T>C (p.Asp19100=)
|
rs876658069
|
|
|
NM_001267550.2(TTN):c.57305T>C (p.Ile19102Thr)
|
rs878854319
|
|
|
NM_001267550.2(TTN):c.57321A>G (p.Gly19107=)
|
|
|
|
NM_001267550.2(TTN):c.57323G>A (p.Gly19108Glu)
|
rs774910035
|
|
|
NM_001267550.2(TTN):c.57324G>T (p.Gly19108=)
|
|
|
|
NM_001267550.2(TTN):c.57325G>A (p.Val19109Met)
|
rs945083650
|
|
|
NM_001267550.2(TTN):c.57327G>C (p.Val19109=)
|
|
|
|
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)
|
rs72646831
|
|
|
NM_001267550.2(TTN):c.57339T>C (p.Ile19113=)
|
|
|
|
NM_001267550.2(TTN):c.5733G>A (p.Lys1911=)
|
|
|
|
NM_001267550.2(TTN):c.57342C>T (p.Ala19114=)
|
|
|
|
NM_001267550.2(TTN):c.57345T>A (p.Tyr19115Ter)
|
|
|
|
NM_001267550.2(TTN):c.57345T>C (p.Tyr19115=)
|
rs879000172
|
|
|
NM_001267550.2(TTN):c.57354_57364del (p.Lys19119fs)
|
|
|
|
NM_001267550.2(TTN):c.57360T>A (p.Pro19120=)
|
rs778995340
|
|
|
NM_001267550.2(TTN):c.57363T>A (p.Pro19121=)
|
|
|
|
NM_001267550.2(TTN):c.57363del (p.Pro19122fs)
|
rs2154189911
|
|
|
NM_001267550.2(TTN):c.57387T>C (p.Asn19129=)
|
rs375305621
|
|
|
NM_001267550.2(TTN):c.57388G>T (p.Glu19130Ter)
|
rs1553659628
|
|
|
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=)
|
rs530291008
|
|
|
NM_001267550.2(TTN):c.57408A>G (p.Glu19136=)
|
rs553505206
|
|
|
NM_001267550.2(TTN):c.57414C>G (p.Thr19138=)
|
|
|
|
NM_001267550.2(TTN):c.57441C>T (p.Ser19147=)
|
rs2052069695
|
|
|
NM_001267550.2(TTN):c.57480C>T (p.Val19160=)
|
|
|
|
NM_001267550.2(TTN):c.57491T>C (p.Leu19164Pro)
|
rs1553659364
|
|
|
NM_001267550.2(TTN):c.57494_57495insTC (p.Lys19166fs)
|
|
|
|
NM_001267550.2(TTN):c.5751T>A (p.Pro1917=)
|
|
|
|
NM_001267550.2(TTN):c.5751T>C (p.Pro1917=)
|
rs2154345998
|
|
|
NM_001267550.2(TTN):c.57544+14A>G
|
|
|
|
NM_001267550.2(TTN):c.57544+1G>A
|
rs2052045274
|
|
|
NM_001267550.2(TTN):c.57545-11_57545-9del
|
rs767743244
|
|
|
NM_001267550.2(TTN):c.57545-17T>C
|
|
|
|
NM_001267550.2(TTN):c.57545-2A>G
|
|
|
|
NM_001267550.2(TTN):c.57545-4C>A
|
|
|
|
NM_001267550.2(TTN):c.57545-4C>T
|
rs1475396962
|
|
|
NM_001267550.2(TTN):c.57546T>C (p.Asp19182=)
|
rs377173415
|
|
|
NM_001267550.2(TTN):c.57558del (p.Val19187fs)
|
rs1576186406
|
|
|
NM_001267550.2(TTN):c.57570A>T (p.Pro19190=)
|
|
|
|
NM_001267550.2(TTN):c.57582C>T (p.His19194=)
|
|
|
|
NM_001267550.2(TTN):c.57600C>T (p.Ser19200=)
|
|
|
|
NM_001267550.2(TTN):c.5760G>A (p.Val1920=)
|
rs1291703322
|
|
|
NM_001267550.2(TTN):c.57612A>C (p.Thr19204=)
|
|
|
|
NM_001267550.2(TTN):c.57617T>A (p.Phe19206Tyr)
|
rs1060500418
|
|
|
NM_001267550.2(TTN):c.57633T>C (p.Asp19211=)
|
|
|
|
NM_001267550.2(TTN):c.57651C>G (p.Thr19217=)
|
|
|
|
NM_001267550.2(TTN):c.57657T>C (p.Tyr19219=)
|
rs1282441893
|
|
|
NM_001267550.2(TTN):c.57660C>G (p.Val19220=)
|
rs1553655572
|
|
|
NM_001267550.2(TTN):c.5766G>A (p.Glu1922=)
|
rs1554006506
|
|
|
NM_001267550.2(TTN):c.57678T>C (p.Ser19226=)
|
|
|
|
NM_001267550.2(TTN):c.57690A>C (p.Ala19230=)
|
rs2154188285
|
|
|
NM_001267550.2(TTN):c.57692G>A (p.Trp19231Ter)
|
rs267599044
|
|
|
NM_001267550.2(TTN):c.57699A>G (p.Pro19233=)
|
rs374467756
|
|
|
NM_001267550.2(TTN):c.57699A>T (p.Pro19233=)
|
|
|
|
NM_001267550.2(TTN):c.5769T>C (p.His1923=)
|
|
|
|
NM_001267550.2(TTN):c.5770A>T (p.Lys1924Ter)
|
rs1327562179
|
|
|
NM_001267550.2(TTN):c.57710_57711del (p.Thr19237fs)
|
|
|
|
NM_001267550.2(TTN):c.57711A>T (p.Thr19237=)
|
|
|
|
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter)
|
rs2051361827
|
|
|
NM_001267550.2(TTN):c.57729T>C (p.Ala19243=)
|
|
|
|
NM_001267550.2(TTN):c.57742C>A (p.Leu19248Ile)
|
rs1553655240
|
|
|
NM_001267550.2(TTN):c.57744C>T (p.Leu19248=)
|
|
|
|
NM_001267550.2(TTN):c.57746_57749del (p.Ile19249fs)
|
|
|
|
NM_001267550.2(TTN):c.57748C>T (p.Gln19250Ter)
|
|
|
|
NM_001267550.2(TTN):c.57768C>T (p.Phe19256=)
|
|
|
|
NM_001267550.2(TTN):c.5779C>T (p.Leu1927Phe)
|
rs1370515925
|
|
|
NM_001267550.2(TTN):c.57833T>C (p.Ile19278Thr)
|
rs1060500546
|
|
|
NM_001267550.2(TTN):c.57847+10A>G
|
|
|
|
NM_001267550.2(TTN):c.57847+11A>C
|
|
|
|
NM_001267550.2(TTN):c.57847+13A>C
|
|
|
|
NM_001267550.2(TTN):c.57847+18_57847+19dup
|
rs111496283
|
|
|
NM_001267550.2(TTN):c.57847+19_57847+20del
|
|
|
|
NM_001267550.2(TTN):c.57847+19del
|
rs111496283
|
|
|
NM_001267550.2(TTN):c.57847+20T>A
|
|
|
|
NM_001267550.2(TTN):c.57847+20T>C
|
rs1559631841
|
|
|
NM_001267550.2(TTN):c.57847+20del
|
|
|
|
NM_001267550.2(TTN):c.57847+5_57847+8del
|
rs587782988
|
|
|
NM_001267550.2(TTN):c.57847+7dup
|
rs111496283
|
|
|
NM_001267550.2(TTN):c.57848-11T>G
|
|
|
|
NM_001267550.2(TTN):c.57848-13del
|
|
|
|
NM_001267550.2(TTN):c.57848-15T>C
|
rs2051023057
|
|
|
NM_001267550.2(TTN):c.57848-16A>G
|
|
|
|
NM_001267550.2(TTN):c.57848-17T>C
|
|
|
|
NM_001267550.2(TTN):c.57848-4G>T
|
|
|
|
NM_001267550.2(TTN):c.57854del (p.Pro19285fs)
|
|
|
|
NM_001267550.2(TTN):c.57855A>G (p.Pro19285=)
|
|
|
|
NM_001267550.2(TTN):c.57864T>C (p.Pro19288=)
|
|
|
|
NM_001267550.2(TTN):c.57864T>G (p.Pro19288=)
|
rs878854320
|
|
|
NM_001267550.2(TTN):c.57870C>T (p.Asp19290=)
|
rs2154187342
|
|
|
NM_001267550.2(TTN):c.57897del (p.Asn19299fs)
|
rs2051003587
|
|
|
NM_001267550.2(TTN):c.5790A>G (p.Gln1930=)
|
rs2154345985
|
|
|
NM_001267550.2(TTN):c.57930T>C (p.Tyr19310=)
|
|
|
|
NM_001267550.2(TTN):c.5793del (p.Arg1932fs)
|
|
|
|
NM_001267550.2(TTN):c.57957T>C (p.Tyr19319=)
|
|
|
|
NM_001267550.2(TTN):c.57960C>T (p.Val19320=)
|
|
|
|
NM_001267550.2(TTN):c.57975C>T (p.Leu19325=)
|
rs2154187284
|
|
|
NM_001267550.2(TTN):c.5797G>T (p.Glu1933Ter)
|
|
|
|
NM_001267550.2(TTN):c.57981G>C (p.Gly19327=)
|
|
|
|
NM_001267550.2(TTN):c.57984T>A (p.Thr19328=)
|
|
|
|
NM_001267550.2(TTN):c.5799A>G (p.Glu1933=)
|
rs1193394666
|
|
|
NM_001267550.2(TTN):c.58009G>A (p.Asp19337Asn)
|
rs1239348052
|
|
|
NM_001267550.2(TTN):c.5802T>C (p.Asp1934=)
|
rs1489067798
|
|
|
NM_001267550.2(TTN):c.58032C>T (p.Tyr19344=)
|
|
|
|
NM_001267550.2(TTN):c.58033del (p.Thr19345fs)
|
rs2154187247
|
|
|
NM_001267550.2(TTN):c.58035T>G (p.Thr19345=)
|
rs2154187241
|
|
|
NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala)
|
rs754793079
|
|
|
NM_001267550.2(TTN):c.58049AAG[1] (p.Glu19351del)
|
rs397517634
|
|
|
NM_001267550.2(TTN):c.58056T>C (p.Gly19352=)
|
|
|
|
NM_001267550.2(TTN):c.58080T>C (p.Ser19360=)
|
rs1462921447
|
|
|
NM_001267550.2(TTN):c.58083T>C (p.Ala19361=)
|
|
|
|
NM_001267550.2(TTN):c.58084G>T (p.Val19362Phe)
|
rs878854321
|
|
|
NM_001267550.2(TTN):c.5808G>A (p.Arg1936=)
|
rs2154345977
|
|
|
NM_001267550.2(TTN):c.5808del (p.Arg1936fs)
|
rs2154345980
|
|
|
NM_001267550.2(TTN):c.58092T>C (p.Ile19364=)
|
|
|
|
NM_001267550.2(TTN):c.58095dup (p.Gly19366fs)
|
|
|
|
NM_001267550.2(TTN):c.58117dup (p.Cys19373fs)
|
|
|
|
NM_001267550.2(TTN):c.58128A>G (p.Pro19376=)
|
|
|
|
NM_001267550.2(TTN):c.58141G>A (p.Asp19381Asn)
|
rs1325584288
|
|
|
NM_001267550.2(TTN):c.58143T>C (p.Asp19381=)
|
|
|
|
NM_001267550.2(TTN):c.58147C>T (p.Leu19383=)
|
rs1296087829
|
|
|
NM_001267550.2(TTN):c.5814_5815insT (p.Leu1939fs)
|
rs2154345971
|
|
|
NM_001267550.2(TTN):c.58150+11A>G
|
|
|
|
NM_001267550.2(TTN):c.58150+12C>T
|
|
|
|
NM_001267550.2(TTN):c.58150+17A>G
|
rs779666540
|
|
|
NM_001267550.2(TTN):c.58150+18T>C
|
rs2154187156
|
|
|
NM_001267550.2(TTN):c.58150+3_58150+6dup
|
|
|
|
NM_001267550.2(TTN):c.58150+4T>C
|
|
|
|
NM_001267550.2(TTN):c.58150+5G>A
|
rs2050944617
|
|
|
NM_001267550.2(TTN):c.58151-10C>T
|
|
|
|
NM_001267550.2(TTN):c.58151-2A>G
|
rs2154187087
|
|
|
NM_001267550.2(TTN):c.58151-8A>C
|
|
|
|
NM_001267550.2(TTN):c.58158A>G (p.Pro19386=)
|
|
|
|
NM_001267550.2(TTN):c.58176del (p.Phe19392fs)
|
|
|
|
NM_001267550.2(TTN):c.58179A>G (p.Arg19393=)
|
rs1576157931
|
|
|
NM_001267550.2(TTN):c.58194T>A (p.Ile19398=)
|
|
|
|
NM_001267550.2(TTN):c.58197A>C (p.Arg19399=)
|
|
|
|
NM_001267550.2(TTN):c.58208del (p.Ala19403fs)
|
rs2154187038
|
|
|
NM_001267550.2(TTN):c.58215C>T (p.Ala19405=)
|
rs1416440515
|
|
|
NM_001267550.2(TTN):c.58228del (p.Tyr19410fs)
|
|
|
|
NM_001267550.2(TTN):c.58244del (p.Lys19415fs)
|
|
|
|
NM_001267550.2(TTN):c.58252del (p.Val19418fs)
|
|
|
|
NM_001267550.2(TTN):c.58254T>C (p.Val19418=)
|
rs2154187012
|
|
|
NM_001267550.2(TTN):c.58258del (p.Trp19420fs)
|
rs2050888713
|
|
|
NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter)
|
rs869025544
|
|
|
NM_001267550.2(TTN):c.58260G>A (p.Trp19420Ter)
|
|
|
|
NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter)
|
rs72646837
|
|
|
NM_001267550.2(TTN):c.58275T>C (p.Ala19425=)
|
|
|
|
NM_001267550.2(TTN):c.58281G>A (p.Val19427=)
|
|
|
|
NM_001267550.2(TTN):c.583+14G>A
|
|
|
|
NM_001267550.2(TTN):c.583+15T>C
|
|
|
|
NM_001267550.2(TTN):c.58303A>G (p.Ile19435Val)
|
rs749402480
|
|
|
NM_001267550.2(TTN):c.58304_58317del (p.Ile19435fs)
|
rs2154186968
|
|
|
NM_001267550.2(TTN):c.58308G>A (p.Lys19436=)
|
|
|
|
NM_001267550.2(TTN):c.58314A>G (p.Thr19438=)
|
rs2154186977
|
|
|
NM_001267550.2(TTN):c.58327del (p.Ala19443fs)
|
|
|
|
NM_001267550.2(TTN):c.58350A>G (p.Lys19450=)
|
rs1576155335
|
|
|
NM_001267550.2(TTN):c.58356A>C (p.Ser19452=)
|
|
|
|
NM_001267550.2(TTN):c.58374T>C (p.Cys19458=)
|
|
|
|
NM_001267550.2(TTN):c.58374T>G (p.Cys19458Trp)
|
rs777855018
|
|
|
NM_001267550.2(TTN):c.58381G>A (p.Val19461Met)
|
rs368431326
|
|
|
NM_001267550.2(TTN):c.58383G>A (p.Val19461=)
|
|
|
|
NM_001267550.2(TTN):c.58388del (p.Asn19463fs)
|
rs2050854171
|
|
|
NM_001267550.2(TTN):c.58390del (p.Ser19464fs)
|
rs2154186900
|
|
|
NM_001267550.2(TTN):c.58392T>C (p.Ser19464=)
|
rs876657609
|
|
|
NM_001267550.2(TTN):c.58399T>A (p.Ser19467Thr)
|
rs920055688
|
|
|
NM_001267550.2(TTN):c.584-14T>C
|
|
|
|
NM_001267550.2(TTN):c.584-18A>G
|
|
|
|
NM_001267550.2(TTN):c.584-1G>T
|
|
|
|
NM_001267550.2(TTN):c.58413_58414del (p.Phe19471fs)
|
rs2154186876
|
|
|
NM_001267550.2(TTN):c.58417C>T (p.Gln19473Ter)
|
|
|
|
NM_001267550.2(TTN):c.58428T>A (p.Val19476=)
|
|
|
|
NM_001267550.2(TTN):c.58432+14A>G
|
|
|
|
NM_001267550.2(TTN):c.58432+18G>A
|
rs991375461
|
|
|
NM_001267550.2(TTN):c.58432+2T>C
|
rs796197320
|
|
|
NM_001267550.2(TTN):c.58433-15T>G
|
rs2050786898
|
|
|
NM_001267550.2(TTN):c.58433-16T>A
|
|
|
|
NM_001267550.2(TTN):c.58433-16dup
|
rs758370659
|
|
|
NM_001267550.2(TTN):c.58433-17A>G
|
rs998696984
|
|
|
NM_001267550.2(TTN):c.58433-19T>C
|
|
|
|
NM_001267550.2(TTN):c.58433-20A>G
|
rs893587198
|
|
|
NM_001267550.2(TTN):c.58433-7T>C
|
|
|
|
NM_001267550.2(TTN):c.58433-7del
|
rs758370659
|
|
|
NM_001267550.2(TTN):c.58445C>T (p.Pro19482Leu)
|
rs746380279
|
|
|
NM_001267550.2(TTN):c.5844G>A (p.Glu1948=)
|
|
|
|
NM_001267550.2(TTN):c.58474_58480del (p.Val19492fs)
|
|
|
|
NM_001267550.2(TTN):c.5847T>C (p.Phe1949=)
|
rs879049862
|
|
|
NM_001267550.2(TTN):c.58500T>C (p.Ser19500=)
|
rs2154186704
|
|
|
NM_001267550.2(TTN):c.5850C>T (p.His1950=)
|
rs1057523471
|
|
|
NM_001267550.2(TTN):c.58533A>G (p.Lys19511=)
|
|
|
|
NM_001267550.2(TTN):c.58536C>T (p.Ile19512=)
|
|
|
|
NM_001267550.2(TTN):c.58545T>A (p.Tyr19515Ter)
|
rs1195475569
|
|
|
NM_001267550.2(TTN):c.58557G>A (p.Lys19519=)
|
rs772071197
|
|
|
NM_001267550.2(TTN):c.5855A>G (p.His1952Arg)
|
rs572691153
|
|
|
NM_001267550.2(TTN):c.58568del (p.Gly19523fs)
|
rs1553650442
|
|
|
NM_001267550.2(TTN):c.58581G>A (p.Trp19527Ter)
|
rs2154186640
|
|
|
NM_001267550.2(TTN):c.58599A>C (p.Ala19533=)
|
|
|
|
NM_001267550.2(TTN):c.58620del (p.Val19541fs)
|
rs1576147786
|
|
|
NM_001267550.2(TTN):c.58635T>C (p.Leu19545=)
|
rs2050737410
|
|
|
NM_001267550.2(TTN):c.58653T>A (p.Ile19551=)
|
rs727504980
|
|
|
NM_001267550.2(TTN):c.58659G>A (p.Arg19553=)
|
|
|
|
NM_001267550.2(TTN):c.5867del (p.Lys1956fs)
|
rs1554006249
|
|
|
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val)
|
rs397517637
|
|
|
NM_001267550.2(TTN):c.58732+10A>T
|
|
|
|
NM_001267550.2(TTN):c.58732+11T>C
|
|
|
|
NM_001267550.2(TTN):c.58732+7A>C
|
rs1559614110
|
|
|
NM_001267550.2(TTN):c.58732+7A>G
|
rs1559614110
|
|
|
NM_001267550.2(TTN):c.58732+8T>C
|
rs2050707804
|
|
|
NM_001267550.2(TTN):c.58733-16C>T
|
|
|
|
NM_001267550.2(TTN):c.58733-4A>G
|
|
|
|
NM_001267550.2(TTN):c.58746A>G (p.Ala19582=)
|
rs1336124090
|
|
|
NM_001267550.2(TTN):c.58749T>G (p.Pro19583=)
|
|
|
|
NM_001267550.2(TTN):c.5875T>A (p.Phe1959Ile)
|
rs562856820
|
|
|
NM_001267550.2(TTN):c.58767A>C (p.Thr19589=)
|
|
|
|
NM_001267550.2(TTN):c.58767A>G (p.Thr19589=)
|
rs1349484500
|
|
|
NM_001267550.2(TTN):c.58782C>T (p.Asp19594=)
|
rs372682637
|
|
|
NM_001267550.2(TTN):c.58788A>G (p.Ala19596=)
|
|
|
|
NM_001267550.2(TTN):c.58799G>A (p.Trp19600Ter)
|
|
|
|
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del)
|
rs771898264
|
|
|
NM_001267550.2(TTN):c.58809A>G (p.Pro19603=)
|
|
|
|
NM_001267550.2(TTN):c.5884C>T (p.Gln1962Ter)
|
|
|
|
NM_001267550.2(TTN):c.58850del (p.Lys19617fs)
|
rs2050657361
|
|
|
NM_001267550.2(TTN):c.58858_58859del (p.Thr19620fs)
|
rs2154186303
|
|
|
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)
|
rs1553649171
|
|
|
NM_001267550.2(TTN):c.58874G>A (p.Trp19625Ter)
|
rs1553649122
|
|
|
NM_001267550.2(TTN):c.5889_5922del (p.Val1964fs)
|
rs2092170508
|
|
|
NM_001267550.2(TTN):c.58920G>A (p.Arg19640=)
|
rs1021783788
|
|
|
NM_001267550.2(TTN):c.5892G>A (p.Val1964=)
|
rs752730793
|
|
|
NM_001267550.2(TTN):c.58958G>A (p.Arg19653Gln)
|
rs1398360418
|
|
|
NM_001267550.2(TTN):c.58959G>A (p.Arg19653=)
|
|
|
|
NM_001267550.2(TTN):c.58971A>G (p.Glu19657=)
|
rs200728232
|
|
|
NM_001267550.2(TTN):c.58986T>C (p.Ile19662=)
|
rs879136535
|
|
|
NM_001267550.2(TTN):c.58995A>G (p.Pro19665=)
|
|
|
|
NM_001267550.2(TTN):c.59031A>G (p.Pro19677=)
|
rs886042123
|
|
|
NM_001267550.2(TTN):c.59035+14G>A
|
|
|
|
NM_001267550.2(TTN):c.59035+3A>G
|
|
|
|
NM_001267550.2(TTN):c.59035+6_59035+8del
|
rs1553648631
|
|
|
NM_001267550.2(TTN):c.59035+8A>T
|
|
|
|
NM_001267550.2(TTN):c.59036-18_59036-16del
|
|
|
|
NM_001267550.2(TTN):c.59036-19T>C
|
|
|
|
NM_001267550.2(TTN):c.59036C>T (p.Ala19679Val)
|
rs1238012891
|
|
|
NM_001267550.2(TTN):c.59043A>C (p.Pro19681=)
|
rs1576134635
|
|
|
NM_001267550.2(TTN):c.59082C>T (p.Cys19694=)
|
|
|
|
NM_001267550.2(TTN):c.59100T>A (p.Thr19700=)
|
rs779339615
|
|
|
NM_001267550.2(TTN):c.59109A>T (p.Pro19703=)
|
rs760422669
|
|
|
NM_001267550.2(TTN):c.59109_59112dup (p.Arg19705fs)
|
rs1553648246
|
|
|
NM_001267550.2(TTN):c.59112A>G (p.Pro19704=)
|
|
|
|
NM_001267550.2(TTN):c.59127del (p.Ser19710fs)
|
rs2050559188
|
|
|
NM_001267550.2(TTN):c.59132del (p.Lys19711fs)
|
|
|
|
NM_001267550.2(TTN):c.59145T>C (p.Tyr19715=)
|
|
|
|
NM_001267550.2(TTN):c.59147T>C (p.Ile19716Thr)
|
rs763636451
|
|
|
NM_001267550.2(TTN):c.59158C>T (p.Gln19720Ter)
|
|
|
|
NM_001267550.2(TTN):c.59172T>C (p.Asp19724=)
|
rs1373178934
|
|
|
NM_001267550.2(TTN):c.59174_59175del (p.Glu19725fs)
|
|
|
|
NM_001267550.2(TTN):c.59193T>C (p.Asn19731=)
|
rs774146313
|
|
|
NM_001267550.2(TTN):c.59199C>A (p.Thr19733=)
|
|
|
|
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs)
|
rs752948913
|
|
|
NM_001267550.2(TTN):c.59201dup (p.Pro19734_Glu19735insTer)
|
rs2154185983
|
|
|
NM_001267550.2(TTN):c.59205del (p.Glu19735fs)
|
rs397517643
|
|
|
NM_001267550.2(TTN):c.59208A>G (p.Ser19736=)
|
rs2154185973
|
|
|
NM_001267550.2(TTN):c.59232C>T (p.Val19744=)
|
rs2050534422
|
|
|
NM_001267550.2(TTN):c.59253A>G (p.Gln19751=)
|
rs1403010122
|
|
|
NM_001267550.2(TTN):c.59283T>C (p.Asn19761=)
|
|
|
|
NM_001267550.2(TTN):c.5933del (p.Lys1978fs)
|
rs2092169389
|
|
|
NM_001267550.2(TTN):c.59340G>C (p.Arg19780Ser)
|
rs1327554085
|
|
|
NM_001267550.2(TTN):c.59344+10A>G
|
|
|
|
NM_001267550.2(TTN):c.59344+11T>C
|
rs2154185854
|
|
|
NM_001267550.2(TTN):c.59344+15C>G
|
|
|
|
NM_001267550.2(TTN):c.59344+7A>T
|
|
|
|
NM_001267550.2(TTN):c.59344G>C (p.Glu19782Gln)
|
|
|
|
NM_001267550.2(TTN):c.59345-16_59345-12del
|
|
|
|
NM_001267550.2(TTN):c.59349C>A (p.Pro19783=)
|
rs1576126915
|
|
|
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)
|
rs886039027
|
|
|
NM_001267550.2(TTN):c.59367T>C (p.Asp19789=)
|
rs760729655
|
|
|
NM_001267550.2(TTN):c.5937G>A (p.Leu1979=)
|
|
|
|
NM_001267550.2(TTN):c.59380A>C (p.Arg19794=)
|
|
|
|
NM_001267550.2(TTN):c.59381G>C (p.Arg19794Thr)
|
rs1553647309
|
|
|
NM_001267550.2(TTN):c.59397dup (p.Val19800fs)
|
|
|
|
NM_001267550.2(TTN):c.59402del (p.Gly19801fs)
|
rs1064793367
|
|
|
NM_001267550.2(TTN):c.59411dup (p.Arg19805fs)
|
rs755261062
|
|
|
NM_001267550.2(TTN):c.59412A>G (p.Leu19804=)
|
|
|
|
NM_001267550.2(TTN):c.59418T>C (p.Leu19806=)
|
rs1576125620
|
|
|
NM_001267550.2(TTN):c.59421T>C (p.Ser19807=)
|
|
|
|
NM_001267550.2(TTN):c.59439G>A (p.Val19813=)
|
|
|
|
NM_001267550.2(TTN):c.59439G>C (p.Val19813=)
|
|
|
|
NM_001267550.2(TTN):c.59451A>C (p.Lys19817Asn)
|
rs1553647180
|
|
|
NM_001267550.2(TTN):c.59451dup (p.Val19818fs)
|
|
|
|
NM_001267550.2(TTN):c.59458del (p.Trp19820fs)
|
|
|
|
NM_001267550.2(TTN):c.59466dup (p.Glu19823fs)
|
rs2154185712
|
|
|
NM_001267550.2(TTN):c.59478T>C (p.Asp19826=)
|
rs764950470
|
|
|
NM_001267550.2(TTN):c.59517T>C (p.Gly19839=)
|
|
|
|
NM_001267550.2(TTN):c.59531_59570dup (p.Leu19857delinsPheSerTer)
|
rs1064792914
|
|
|
NM_001267550.2(TTN):c.59535del (p.Asn19846fs)
|
rs1559602980
|
|
|
NM_001267550.2(TTN):c.5953A>G (p.Ile1985Val)
|
rs886055303
|
|
|
NM_001267550.2(TTN):c.59570_59571insTTTTTTTTTTNNNNNNNNNNCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCCGGAATTTATTCTTT (p.Leu19857fs)
|
rs2154185645
|
|
|
NM_001267550.2(TTN):c.59574A>G (p.Thr19858=)
|
|
|
|
NM_001267550.2(TTN):c.59580G>A (p.Glu19860=)
|
|
|
|
NM_001267550.2(TTN):c.59583T>C (p.Asn19861=)
|
rs2154185637
|
|
|
NM_001267550.2(TTN):c.59583_59599dup (p.Thr19867fs)
|
rs2154185625
|
|
|
NM_001267550.2(TTN):c.59589T>C (p.Ala19863=)
|
|
|
|
NM_001267550.2(TTN):c.59598_59599dup (p.Thr19867fs)
|
rs2154185622
|
|
|
NM_001267550.2(TTN):c.59604C>G (p.Val19868=)
|
rs2154185619
|
|
|
NM_001267550.2(TTN):c.5961T>C (p.His1987=)
|
rs2154345910
|
|
|
NM_001267550.2(TTN):c.59626+13C>A
|
|
|
|
NM_001267550.2(TTN):c.59626+7del
|
rs766734794
|
|
|
NM_001267550.2(TTN):c.59626G>A (p.Asp19876Asn)
|
rs1244294413
|
|
|
NM_001267550.2(TTN):c.59627-17T>C
|
|
|
|
NM_001267550.2(TTN):c.59627-19G>C
|
|
|
|
NM_001267550.2(TTN):c.59647G>T (p.Asp19883Tyr)
|
rs1060500395
|
|
|
NM_001267550.2(TTN):c.59647_59648del (p.Asp19883fs)
|
rs878854322
|
|
|
NM_001267550.2(TTN):c.59667T>C (p.Ile19889=)
|
|
|
|
NM_001267550.2(TTN):c.59670G>A (p.Arg19890=)
|
rs2154185494
|
|
|
NM_001267550.2(TTN):c.59724T>C (p.Val19908=)
|
rs2154185451
|
|
|
NM_001267550.2(TTN):c.59730C>T (p.Thr19910=)
|
rs1576118852
|
|
|
NM_001267550.2(TTN):c.59730del (p.Asn19911fs)
|
|
|
|
NM_001267550.2(TTN):c.59739G>T (p.Val19913=)
|
rs1347100360
|
|
|
NM_001267550.2(TTN):c.5973T>G (p.Pro1991=)
|
rs1554005997
|
|
|
NM_001267550.2(TTN):c.59763del (p.Ser19921fs)
|
rs1559599859
|
|
|
NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)
|
|
|
|
NM_001267550.2(TTN):c.59775A>G (p.Ser19925=)
|
|
|
|
NM_001267550.2(TTN):c.59790A>G (p.Thr19930=)
|
|
|
|
NM_001267550.2(TTN):c.59802del (p.Ser19935fs)
|
|
|
|
NM_001267550.2(TTN):c.59808C>T (p.His19936=)
|
|
|
|
NM_001267550.2(TTN):c.5981C>A (p.Ser1994Ter)
|
rs758483877
|
|
|
NM_001267550.2(TTN):c.59820T>C (p.His19940=)
|
|
|
|
NM_001267550.2(TTN):c.59841C>A (p.Tyr19947Ter)
|
rs1413760246
|
|
|
NM_001267550.2(TTN):c.59841C>T (p.Tyr19947=)
|
|
|
|
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)
|
rs1559598775
|
|
|
NM_001267550.2(TTN):c.59853A>G (p.Val19951=)
|
|
|
|
NM_001267550.2(TTN):c.59859G>C (p.Ala19953=)
|
rs759120495
|
|
|
NM_001267550.2(TTN):c.59862G>A (p.Glu19954=)
|
|
|
|
NM_001267550.2(TTN):c.59880T>A (p.Gly19960=)
|
rs2154185348
|
|
|
NM_001267550.2(TTN):c.59888T>C (p.Val19963Ala)
|
rs1553645836
|
|
|
NM_001267550.2(TTN):c.59889T>G (p.Val19963=)
|
|
|
|
NM_001267550.2(TTN):c.59903del (p.Pro19968fs)
|
rs2154185335
|
|
|
NM_001267550.2(TTN):c.59906_59924delinsAA (p.Ile19969fs)
|
rs2050313754
|
|
|
NM_001267550.2(TTN):c.59916G>C (p.Leu19972Phe)
|
rs1553645773
|
|
|
NM_001267550.2(TTN):c.59917del (p.Asp19973fs)
|
rs2050315855
|
|
|
NM_001267550.2(TTN):c.5991G>A (p.Leu1997=)
|
|
|
|
NM_001267550.2(TTN):c.59926+10T>C
|
rs2154185308
|
|
|
NM_001267550.2(TTN):c.59926+1G>A
|
rs553526525
|
|
|
NM_001267550.2(TTN):c.59926+1G>C
|
|
|
|
NM_001267550.2(TTN):c.59927-10C>T
|
rs1559597189
|
|
|
NM_001267550.2(TTN):c.59927-13C>A
|
|
|
|
NM_001267550.2(TTN):c.59927-14T>G
|
|
|
|
NM_001267550.2(TTN):c.59927-15T>C
|
rs764686070
|
|
|
NM_001267550.2(TTN):c.59927-16C>G
|
|
|
|
NM_001267550.2(TTN):c.59927-16CTT[2]
|
rs1338225091
|
|
|
NM_001267550.2(TTN):c.59927-18A>C
|
|
|
|
NM_001267550.2(TTN):c.59927-19T>C
|
|
|
|
NM_001267550.2(TTN):c.59934A>G (p.Pro19978=)
|
rs2154185249
|
|
|
NM_001267550.2(TTN):c.59937G>T (p.Gly19979=)
|
|
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
|
NM_001267550.2(TTN):c.59943C>T (p.Pro19981=)
|
|
|
|
NM_001267550.2(TTN):c.59965G>C (p.Val19989Leu)
|
rs1021499065
|
|
|
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter)
|
rs1085307825
|
|
|
NM_001267550.2(TTN):c.59994G>A (p.Trp19998Ter)
|
rs2154185221
|
|
|
NM_001267550.2(TTN):c.59997del (p.Asn19999fs)
|
rs2154185219
|
|
|
NM_001267550.2(TTN):c.599del (p.Pro200fs)
|
|
|
|
NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter)
|
|
|
|
NM_001267550.2(TTN):c.60066G>A (p.Gln20022=)
|
rs878867252
|
|
|
NM_001267550.2(TTN):c.60120A>G (p.Leu20040=)
|
rs878854323
|
|
|
NM_001267550.2(TTN):c.60121C>T (p.Gln20041Ter)
|
rs794729277
|
|
|
NM_001267550.2(TTN):c.60121CAA[1] (p.Gln20042del)
|
rs761360903
|
|
|
NM_001267550.2(TTN):c.60129A>G (p.Gly20043=)
|
rs941127366
|
|
|
NM_001267550.2(TTN):c.6012A>G (p.Arg2004=)
|
|
|
|
NM_001267550.2(TTN):c.6015A>G (p.Thr2005=)
|
|
|
|
NM_001267550.2(TTN):c.60162C>T (p.Asn20054=)
|
|
|
|
NM_001267550.2(TTN):c.6018A>G (p.Glu2006=)
|
rs2154345887
|
|
|
NM_001267550.2(TTN):c.60192T>C (p.Thr20064=)
|
rs1215674180
|
|
|
NM_001267550.2(TTN):c.60220+16G>C
|
|
|
|
NM_001267550.2(TTN):c.60220+17C>T
|
|
|
|
NM_001267550.2(TTN):c.60220+18A>T
|
|
|
|
NM_001267550.2(TTN):c.60220+20T>G
|
|
|
|
NM_001267550.2(TTN):c.60221-10del
|
rs2154185014
|
|
|
NM_001267550.2(TTN):c.60221-4del
|
rs1299580089
|
|
|
NM_001267550.2(TTN):c.60221-8C>A
|
rs1362866017
|
|
|
NM_001267550.2(TTN):c.60234G>T (p.Val20078=)
|
rs2154184993
|
|
|
NM_001267550.2(TTN):c.60258del (p.Gly20087fs)
|
rs2154184977
|
|
|
NM_001267550.2(TTN):c.60263_60264del (p.Leu20088fs)
|
rs1559592415
|
|
|
NM_001267550.2(TTN):c.60273G>A (p.Lys20091=)
|
rs775961664
|
|
|
NM_001267550.2(TTN):c.6027T>C (p.Tyr2009=)
|
rs1355700305
|
|
|
NM_001267550.2(TTN):c.60284_60285del (p.Thr20095fs)
|
rs1553644362
|
|
|
NM_001267550.2(TTN):c.60305T>G (p.Ile20102Arg)
|
rs998020901
|
|
|
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter)
|
rs1553644307
|
|
|
NM_001267550.2(TTN):c.60323C>G (p.Pro20108Arg)
|
|
|
|
NM_001267550.2(TTN):c.60348G>A (p.Gly20116=)
|
rs2050156802
|
|
|
NM_001267550.2(TTN):c.60348G>C (p.Gly20116=)
|
rs2050156802
|
|
|
NM_001267550.2(TTN):c.60348del (p.Ser20117fs)
|
|
|
|
NM_001267550.2(TTN):c.60351T>C (p.Ser20117=)
|
|
|
|
NM_001267550.2(TTN):c.6036C>T (p.Ala2012=)
|
|
|
|
NM_001267550.2(TTN):c.60372C>T (p.His20124=)
|
|
|
|
NM_001267550.2(TTN):c.60399A>G (p.Ser20133=)
|
rs1553644118
|
|
|
NM_001267550.2(TTN):c.60399A>T (p.Ser20133=)
|
|
|
|
NM_001267550.2(TTN):c.6042C>T (p.Thr2014=)
|
|
|
|
NM_001267550.2(TTN):c.60433_60434dup (p.Asp20145fs)
|
|
|
|
NM_001267550.2(TTN):c.60438T>C (p.Thr20146=)
|
|
|
|
NM_001267550.2(TTN):c.60438T>G (p.Thr20146=)
|
|
|
|
NM_001267550.2(TTN):c.60447T>G (p.Tyr20149Ter)
|
rs1553644047
|
|
|
NM_001267550.2(TTN):c.60453C>T (p.Ile20151=)
|
|
|
|
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs)
|
rs2154184873
|
|
|
NM_001267550.2(TTN):c.60472G>A (p.Gly20158Ser)
|
rs375009570
|
|
|
NM_001267550.2(TTN):c.60490G>A (p.Val20164Ile)
|
rs72646843
|
|
|
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu)
|
rs72646843
|
|
|
NM_001267550.2(TTN):c.60493dup (p.His20165fs)
|
|
|
|
NM_001267550.2(TTN):c.60501T>C (p.Thr20167=)
|
rs1459026538
|
|
|
NM_001267550.2(TTN):c.60549T>C (p.Asp20183=)
|
rs761322852
|
|
|
NM_001267550.2(TTN):c.60565_60566del (p.Met20189fs)
|
|
|
|
NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter)
|
rs2050116026
|
|
|
NM_001267550.2(TTN):c.60581del (p.Gln20194fs)
|
rs1559589139
|
|
|
NM_001267550.2(TTN):c.60612G>A (p.Val20204=)
|
|
|
|
NM_001267550.2(TTN):c.60615A>C (p.Ile20205=)
|
|
|
|
NM_001267550.2(TTN):c.6061C>T (p.Arg2021Ter)
|
|
|
|
NM_001267550.2(TTN):c.60621del (p.Asn20206_Tyr20207insTer)
|
rs1060500442
|
|
|
NM_001267550.2(TTN):c.60624T>C (p.Ile20208=)
|
|
|
|
NM_001267550.2(TTN):c.60639T>C (p.Asp20213=)
|
rs2154184767
|
|
|
NM_001267550.2(TTN):c.60642A>G (p.Thr20214=)
|
rs527667308
|
|
|
NM_001267550.2(TTN):c.60666C>G (p.Val20222=)
|
|
|
|
NM_001267550.2(TTN):c.60687A>G (p.Thr20229=)
|
rs1576097493
|
|
|
NM_001267550.2(TTN):c.60723A>G (p.Glu20241=)
|
|
|
|
NM_001267550.2(TTN):c.60726T>C (p.Tyr20242=)
|
rs145423907
|
|
|
NM_001267550.2(TTN):c.60729T>C (p.Val20243=)
|
|
|
|
NM_001267550.2(TTN):c.60755T>C (p.Ile20252Thr)
|
rs752999797
|
|
|
NM_001267550.2(TTN):c.60759T>G (p.Gly20253=)
|
|
|
|
NM_001267550.2(TTN):c.6075A>G (p.Glu2025=)
|
rs778940741
|
|
|
NM_001267550.2(TTN):c.60760del (p.Val20254fs)
|
rs2050086519
|
|
|
NM_001267550.2(TTN):c.60762T>C (p.Val20254=)
|
|
|
|
NM_001267550.2(TTN):c.60771C>G (p.Pro20257=)
|
|
|
|
NM_001267550.2(TTN):c.60771C>T (p.Pro20257=)
|
|
|
|
NM_001267550.2(TTN):c.60774T>C (p.Leu20258=)
|
rs1207936853
|
|
|
NM_001267550.2(TTN):c.60777C>T (p.Asp20259=)
|
|
|
|
NM_001267550.2(TTN):c.60783A>G (p.Thr20261=)
|
rs2154184689
|
|
|
NM_001267550.2(TTN):c.6078C>G (p.Ser2026=)
|
|
|
|
NM_001267550.2(TTN):c.60801_60802insTAAA (p.Lys20268Ter)
|
|
|
|
NM_001267550.2(TTN):c.60807T>C (p.Phe20269=)
|
|
|
|
NM_001267550.2(TTN):c.60831del (p.Lys20277fs)
|
rs2050068938
|
|
|
NM_001267550.2(TTN):c.60837G>C (p.Val20279=)
|
rs2154184657
|
|
|
NM_001267550.2(TTN):c.60853dup (p.Glu20285fs)
|
rs2154184643
|
|
|
NM_001267550.2(TTN):c.60865dup (p.Thr20289fs)
|
rs1553643260
|
|
|
NM_001267550.2(TTN):c.60871T>G (p.Ser20291Ala)
|
rs1553643238
|
|
|
NM_001267550.2(TTN):c.60882G>C (p.Leu20294=)
|
rs2154184626
|
|
|
NM_001267550.2(TTN):c.60891T>G (p.Ser20297=)
|
|
|
|
NM_001267550.2(TTN):c.60894T>C (p.Asp20298=)
|
|
|
|
NM_001267550.2(TTN):c.60918C>G (p.Tyr20306Ter)
|
|
|
|
NM_001267550.2(TTN):c.60920A>T (p.Tyr20307Phe)
|
rs1553643111
|
|
|
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)
|
rs869312055
|
|
|
NM_001267550.2(TTN):c.60952G>C (p.Val20318Leu)
|
|
|
|
NM_001267550.2(TTN):c.60960C>G (p.Val20320=)
|
rs1576093080
|
|
|
NM_001267550.2(TTN):c.60961_60962dup (p.Asn20321fs)
|
|
|
|
NM_001267550.2(TTN):c.60968C>T (p.Thr20323Ile)
|
rs1060500415
|
|
|
NM_001267550.2(TTN):c.60993_60994del (p.Arg20331fs)
|
rs2154184570
|
|
|
NM_001267550.2(TTN):c.61012G>T (p.Gly20338Ter)
|
|
|
|
NM_001267550.2(TTN):c.61017T>C (p.Asn20339=)
|
|
|
|
NM_001267550.2(TTN):c.61024_61028del (p.Tyr20341_Glu20342insTer)
|
|
|
|
NM_001267550.2(TTN):c.61050T>A (p.Leu20350=)
|
|
|
|
NM_001267550.2(TTN):c.61050T>C (p.Leu20350=)
|
|
|
|
NM_001267550.2(TTN):c.61056A>G (p.Gly20352=)
|
|
|
|
NM_001267550.2(TTN):c.61079del (p.Ser20360fs)
|
|
|
|
NM_001267550.2(TTN):c.6108T>C (p.Asp2036=)
|
rs2154345842
|
|
|
NM_001267550.2(TTN):c.61095T>C (p.Ala20365=)
|
|
|
|
NM_001267550.2(TTN):c.61098C>T (p.Cys20366=)
|
rs755233818
|
|
|
NM_001267550.2(TTN):c.61107C>T (p.Ile20369=)
|
rs2050003537
|
|
|
NM_001267550.2(TTN):c.61110A>G (p.Lys20370=)
|
|
|
|
NM_001267550.2(TTN):c.61125T>C (p.Pro20375=)
|
|
|
|
NM_001267550.2(TTN):c.61146C>T (p.Asp20382=)
|
rs1365628333
|
|
|
NM_001267550.2(TTN):c.61149G>A (p.Lys20383=)
|
rs727504968
|
|
|
NM_001267550.2(TTN):c.61161A>G (p.Thr20387=)
|
rs1576089893
|
|
|
NM_001267550.2(TTN):c.61167T>C (p.Asp20389=)
|
|
|
|
NM_001267550.2(TTN):c.61197T>C (p.Gly20399=)
|
|
|
|
NM_001267550.2(TTN):c.61200T>C (p.Gly20400=)
|
|
|
|
NM_001267550.2(TTN):c.61203C>T (p.Ser20401=)
|
rs779637589
|
|
|
NM_001267550.2(TTN):c.61206C>T (p.Pro20402=)
|
rs1559582385
|
|
|
NM_001267550.2(TTN):c.61215A>G (p.Gly20405=)
|
rs1220596514
|
|
|
NM_001267550.2(TTN):c.61221A>G (p.Val20407=)
|
|
|
|
NM_001267550.2(TTN):c.61224G>C (p.Val20408=)
|
|
|
|
NM_001267550.2(TTN):c.61244_61245inv (p.Thr20415Met)
|
|
|
|
NM_001267550.2(TTN):c.61269del (p.Asp20424fs)
|
rs1060500420
|
|
|
NM_001267550.2(TTN):c.61272T>C (p.Asp20424=)
|
|
|
|
NM_001267550.2(TTN):c.61281T>C (p.Ile20427=)
|
|
|
|
NM_001267550.2(TTN):c.61290T>A (p.Cys20430Ter)
|
|
|
|
NM_001267550.2(TTN):c.61293C>A (p.Ala20431=)
|
|
|
|
NM_001267550.2(TTN):c.61297del (p.Arg20433fs)
|
rs2154184377
|
|
|
NM_001267550.2(TTN):c.61323dup (p.Glu20442Ter)
|
|
|
|
NM_001267550.2(TTN):c.61324G>T (p.Glu20442Ter)
|
rs751412533
|
|
|
NM_001267550.2(TTN):c.61330A>C (p.Arg20444=)
|
rs2049952594
|
|
|
NM_001267550.2(TTN):c.61332A>G (p.Arg20444=)
|
rs758056865
|
|
|
NM_001267550.2(TTN):c.61335C>T (p.Phe20445=)
|
rs2049950535
|
|
|
NM_001267550.2(TTN):c.61338T>C (p.Arg20446=)
|
|
|
|
NM_001267550.2(TTN):c.61344G>A (p.Lys20448=)
|
|
|
|
NM_001267550.2(TTN):c.61347A>G (p.Ala20449=)
|
rs2154184350
|
|
|
NM_001267550.2(TTN):c.61367del (p.Gly20456fs)
|
rs2154184341
|
|
|
NM_001267550.2(TTN):c.61369G>T (p.Glu20457Ter)
|
rs2049944547
|
|
|
NM_001267550.2(TTN):c.61386A>G (p.Ala20462=)
|
|
|
|
NM_001267550.2(TTN):c.61394_61395del (p.Val20465fs)
|
rs2154184320
|
|
|
NM_001267550.2(TTN):c.61395G>T (p.Val20465=)
|
|
|
|
NM_001267550.2(TTN):c.61449T>C (p.Arg20483=)
|
rs776820569
|
|
|
NM_001267550.2(TTN):c.61452T>C (p.Asp20484=)
|
|
|
|
NM_001267550.2(TTN):c.61464G>A (p.Val20488=)
|
|
|
|
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter)
|
rs869312112
|
|
|
NM_001267550.2(TTN):c.61500C>A (p.Val20500=)
|
rs1057522407
|
|
|
NM_001267550.2(TTN):c.61503A>G (p.Lys20501=)
|
|
|
|
NM_001267550.2(TTN):c.61515del (p.Glu20505fs)
|
rs2154184240
|
|
|
NM_001267550.2(TTN):c.61533T>G (p.Thr20511=)
|
|
|
|
NM_001267550.2(TTN):c.61542C>G (p.Gly20514=)
|
rs2154184226
|
|
|
NM_001267550.2(TTN):c.61545A>G (p.Lys20515=)
|
|
|
|
NM_001267550.2(TTN):c.61554C>T (p.Val20518=)
|
rs1482977483
|
|
|
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)
|
rs794729278
|
|
|
NM_001267550.2(TTN):c.61584T>C (p.Asp20528=)
|
|
|
|
NM_001267550.2(TTN):c.61585C>T (p.Leu20529=)
|
rs2154184204
|
|
|
NM_001267550.2(TTN):c.61593T>C (p.Arg20531=)
|
rs2154184197
|
|
|
NM_001267550.2(TTN):c.61596T>C (p.Val20532=)
|
rs2154184195
|
|
|
NM_001267550.2(TTN):c.61614del (p.Ala20539fs)
|
|
|
|
NM_001267550.2(TTN):c.61620T>C (p.Val20540=)
|
|
|
|
NM_001267550.2(TTN):c.61632T>C (p.His20544=)
|
|
|
|
NM_001267550.2(TTN):c.61644C>T (p.Ile20548=)
|
rs758509448
|
|
|
NM_001267550.2(TTN):c.61653T>C (p.Ala20551=)
|
|
|
|
NM_001267550.2(TTN):c.61655del (p.Lys20552fs)
|
|
|
|
NM_001267550.2(TTN):c.61659C>T (p.Asn20553=)
|
rs1009639599
|
|
|
NM_001267550.2(TTN):c.6165A>G (p.Glu2055=)
|
|
|
|
NM_001267550.2(TTN):c.61670A>G (p.His20557Arg)
|
rs1472565206
|
|
|
NM_001267550.2(TTN):c.61675C>T (p.Gln20559Ter)
|
|
|
|
NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter)
|
rs1114167324
|
|
|
NM_001267550.2(TTN):c.61692T>A (p.Val20564=)
|
rs1553641761
|
|
|
NM_001267550.2(TTN):c.61709C>G (p.Pro20570Arg)
|
rs1559576730
|
|
|
NM_001267550.2(TTN):c.61710T>C (p.Pro20570=)
|
|
|
|
NM_001267550.2(TTN):c.61757_61758del (p.Cys20586fs)
|
rs1264036094
|
|
|
NM_001267550.2(TTN):c.61765dup (p.Ser20589fs)
|
|
|
|
NM_001267550.2(TTN):c.61776C>T (p.Asn20592=)
|
|
|
|
NM_001267550.2(TTN):c.61797A>T (p.Ser20599=)
|
rs1384718130
|
|
|
NM_001267550.2(TTN):c.6180G>A (p.Thr2060=)
|
rs990559709
|
|
|
NM_001267550.2(TTN):c.6180G>C (p.Thr2060=)
|
|
|
|
NM_001267550.2(TTN):c.61830dup (p.Pro20611fs)
|
rs2154184083
|
|
|
NM_001267550.2(TTN):c.61847G>A (p.Trp20616Ter)
|
rs1576077909
|
|
|
NM_001267550.2(TTN):c.61850C>G (p.Ser20617Ter)
|
rs2154184066
|
|
|
NM_001267550.2(TTN):c.61890C>T (p.Ala20630=)
|
|
|
|
NM_001267550.2(TTN):c.61893C>T (p.Asn20631=)
|
rs940775890
|
|
|
NM_001267550.2(TTN):c.618A>G (p.Thr206=)
|
rs2154358681
|
|
|
NM_001267550.2(TTN):c.618_630del (p.Ile207fs)
|
rs2154358671
|
|
|
NM_001267550.2(TTN):c.61905C>T (p.Asn20635=)
|
rs749547976
|
|
|
NM_001267550.2(TTN):c.6192T>C (p.Phe2064=)
|
rs759437501
|
|
|
NM_001267550.2(TTN):c.61935G>A (p.Glu20645=)
|
rs2154184014
|
|
|
NM_001267550.2(TTN):c.61947T>C (p.Gly20649=)
|
|
|
|
NM_001267550.2(TTN):c.61953G>A (p.Gly20651=)
|
rs1007434751
|
|
|
NM_001267550.2(TTN):c.61977del (p.Ile20660fs)
|
rs2154183984
|
|
|
NM_001267550.2(TTN):c.62005C>T (p.Pro20669Ser)
|
rs1553641246
|
|
|
NM_001267550.2(TTN):c.62008G>C (p.Gly20670Arg)
|
rs774150150
|
|
|
NM_001267550.2(TTN):c.62013G>A (p.Glu20671=)
|
rs2049808933
|
|
|
NM_001267550.2(TTN):c.62037T>C (p.Asp20679=)
|
rs878956804
|
|
|
NM_001267550.2(TTN):c.6204G>A (p.Lys2068=)
|
rs760573086
|
|
|
NM_001267550.2(TTN):c.62075del (p.Pro20692fs)
|
rs2154183927
|
|
|
NM_001267550.2(TTN):c.62085T>C (p.Asp20695=)
|
rs2154183924
|
|
|
NM_001267550.2(TTN):c.62088T>A (p.Gly20696=)
|
rs1576074400
|
|
|
NM_001267550.2(TTN):c.62091C>T (p.Gly20697=)
|
rs2154183915
|
|
|
NM_001267550.2(TTN):c.62103G>A (p.Leu20701=)
|
|
|
|
NM_001267550.2(TTN):c.62103G>T (p.Leu20701=)
|
rs2154183901
|
|
|
NM_001267550.2(TTN):c.62109T>A (p.Tyr20703Ter)
|
rs2154183898
|
|
|
NM_001267550.2(TTN):c.62128_63102delinsGA (p.Lys20710fs)
|
rs2049572412
|
|
|
NM_001267550.2(TTN):c.62129dup (p.Ser20712fs)
|
rs886039913
|
|
|
NM_001267550.2(TTN):c.62131_62135dup (p.Asp20713fs)
|
|
|
|
NM_001267550.2(TTN):c.62137G>T (p.Asp20713Tyr)
|
rs1177521349
|
|
|
NM_001267550.2(TTN):c.62139T>C (p.Asp20713=)
|
|
|
|
NM_001267550.2(TTN):c.62151A>G (p.Arg20717=)
|
|
|
|
NM_001267550.2(TTN):c.62184C>A (p.Tyr20728Ter)
|
|
|
|
NM_001267550.2(TTN):c.62211G>A (p.Gln20737=)
|
rs531575930
|
|
|
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter)
|
rs727503586
|
|
|
NM_001267550.2(TTN):c.62222T>G (p.Phe20741Cys)
|
rs1553640801
|
|
|
NM_001267550.2(TTN):c.62250G>T (p.Gly20750=)
|
|
|
|
NM_001267550.2(TTN):c.62251dup (p.Glu20751fs)
|
|
|
|
NM_001267550.2(TTN):c.62262G>C (p.Trp20754Cys)
|
rs1060500414
|
|
|
NM_001267550.2(TTN):c.62268G>A (p.Lys20756=)
|
rs2154183785
|
|
|
NM_001267550.2(TTN):c.62289AGA[1] (p.Glu20764del)
|
rs751783806
|
|
|
NM_001267550.2(TTN):c.62299C>G (p.Gln20767Glu)
|
rs1553640642
|
|
|
NM_001267550.2(TTN):c.62302A>T (p.Lys20768Ter)
|
|
|
|
NM_001267550.2(TTN):c.62307A>C (p.Pro20769=)
|
|
|
|
NM_001267550.2(TTN):c.62317C>T (p.Leu20773=)
|
rs375173874
|
|
|
NM_001267550.2(TTN):c.62319G>A (p.Leu20773=)
|
|
|
|
NM_001267550.2(TTN):c.62334C>T (p.Val20778=)
|
rs2154183740
|
|
|
NM_001267550.2(TTN):c.62337_62340del (p.Thr20780fs)
|
rs2154183737
|
|
|
NM_001267550.2(TTN):c.62355C>T (p.Asp20785=)
|
rs766020138
|
|
|
NM_001267550.2(TTN):c.62374_62378del (p.Ala20791_Gly20792insTer)
|
|
|
|
NM_001267550.2(TTN):c.62385C>G (p.Gly20795=)
|
rs72646848
|
|
|
NM_001267550.2(TTN):c.62408G>A (p.Trp20803Ter)
|
|
|
|
NM_001267550.2(TTN):c.62409G>A (p.Trp20803Ter)
|
|
|
|
NM_001267550.2(TTN):c.6240C>T (p.Ile2080=)
|
rs1398450518
|
|
|
NM_001267550.2(TTN):c.62411C>A (p.Thr20804Asn)
|
rs1218971734
|
|
|
NM_001267550.2(TTN):c.62412C>G (p.Thr20804=)
|
rs1298817333
|
|
|
NM_001267550.2(TTN):c.62412C>T (p.Thr20804=)
|
|
|
|
NM_001267550.2(TTN):c.6244G>T (p.Glu2082Ter)
|
rs750064248
|
|
|
NM_001267550.2(TTN):c.62477C>G (p.Ser20826Ter)
|
|
|
|
NM_001267550.2(TTN):c.62493dup (p.Thr20832fs)
|
|
|
|
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter)
|
rs757231565
|
|
|
NM_001267550.2(TTN):c.62514T>C (p.Asp20838=)
|
|
|
|
NM_001267550.2(TTN):c.62517G>A (p.Gly20839=)
|
|
|
|
NM_001267550.2(TTN):c.62519dup (p.Gly20840_Lys20841insTer)
|
|
|
|
NM_001267550.2(TTN):c.62525_62526del (p.Tyr20842fs)
|
|
|
|
NM_001267550.2(TTN):c.62526T>G (p.Tyr20842Ter)
|
rs2049710031
|
|
|
NM_001267550.2(TTN):c.62530_62531del (p.Val20844fs)
|
|
|
|
NM_001267550.2(TTN):c.62533_62534insGTTGGAAGTTA (p.Thr20845fs)
|
|
|
|
NM_001267550.2(TTN):c.62550T>G (p.Ala20850=)
|
rs2154183630
|
|
|
NM_001267550.2(TTN):c.62592G>A (p.Lys20864=)
|
rs2154183596
|
|
|
NM_001267550.2(TTN):c.62597del (p.Gly20866fs)
|
rs1576066084
|
|
|
NM_001267550.2(TTN):c.62610T>C (p.Asn20870=)
|
rs921573678
|
|
|
NM_001267550.2(TTN):c.62618T>C (p.Ile20873Thr)
|
rs1060500438
|
|
|
NM_001267550.2(TTN):c.62625T>C (p.Asp20875=)
|
|
|
|
NM_001267550.2(TTN):c.62642_62648del (p.Cys20881fs)
|
|
|
|
NM_001267550.2(TTN):c.62643T>C (p.Cys20881=)
|
|
|
|
NM_001267550.2(TTN):c.62646T>C (p.Thr20882=)
|
|
|
|
NM_001267550.2(TTN):c.6264A>C (p.Thr2088=)
|
|
|
|
NM_001267550.2(TTN):c.62655G>A (p.Trp20885Ter)
|
rs2049677875
|
|
|
NM_001267550.2(TTN):c.62670T>C (p.Asp20890=)
|
|
|
|
NM_001267550.2(TTN):c.62678_62679delinsTT (p.Gly20893Val)
|
rs1060500476
|
|
|
NM_001267550.2(TTN):c.62681G>A (p.Cys20894Tyr)
|
rs370080086
|
|
|
NM_001267550.2(TTN):c.62682T>C (p.Cys20894=)
|
rs2154183521
|
|
|
NM_001267550.2(TTN):c.62688C>A (p.Ile20896=)
|
|
|
|
NM_001267550.2(TTN):c.62694T>C (p.Asn20898=)
|
rs778236151
|
|
|
NM_001267550.2(TTN):c.62697T>C (p.Tyr20899=)
|
rs1553640072
|
|
|
NM_001267550.2(TTN):c.62708_62709insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAA (p.Lys20903_Cys20904insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.6270C>T (p.Gly2090=)
|
|
|
|
NM_001267550.2(TTN):c.62715G>A (p.Glu20905=)
|
|
|
|
NM_001267550.2(TTN):c.62722C>A (p.Arg20908=)
|
|
|
|
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)
|
rs543860009
|
|
|
NM_001267550.2(TTN):c.62742T>G (p.Tyr20914Ter)
|
|
|
|
NM_001267550.2(TTN):c.62745T>C (p.Ser20915=)
|
rs2154183484
|
|
|
NM_001267550.2(TTN):c.62766T>A (p.Gly20922=)
|
rs752423017
|
|
|
NM_001267550.2(TTN):c.62769T>A (p.Thr20923=)
|
|
|
|
NM_001267550.2(TTN):c.627G>A (p.Ser209=)
|
rs201942184
|
|
|
NM_001267550.2(TTN):c.627G>C (p.Ser209=)
|
|
|
|
NM_001267550.2(TTN):c.6282T>C (p.Asp2094=)
|
rs780645233
|
|
|
NM_001267550.2(TTN):c.62841G>A (p.Gly20947=)
|
rs774121638
|
|
|
NM_001267550.2(TTN):c.62854del (p.Ser20952fs)
|
rs2154183406
|
|
|
NM_001267550.2(TTN):c.6285A>G (p.Ala2095=)
|
|
|
|
NM_001267550.2(TTN):c.62895T>C (p.Gly20965=)
|
rs2154183374
|
|
|
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)
|
rs876657666
|
|
|
NM_001267550.2(TTN):c.6290dup (p.Arg2098fs)
|
|
|
|
NM_001267550.2(TTN):c.62911G>T (p.Glu20971Ter)
|
|
|
|
NM_001267550.2(TTN):c.6291C>T (p.Phe2097=)
|
rs2154345777
|
|
|
NM_001267550.2(TTN):c.62922del (p.Lys20974_Val20975insTer)
|
rs2154183349
|
|
|
NM_001267550.2(TTN):c.62925A>G (p.Val20975=)
|
rs2049614682
|
|
|
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del)
|
rs727505236
|
|
|
NM_001267550.2(TTN):c.62935G>T (p.Glu20979Ter)
|
rs1306891128
|
|
|
NM_001267550.2(TTN):c.62937G>A (p.Glu20979=)
|
rs2049611289
|
|
|
NM_001267550.2(TTN):c.62939T>C (p.Met20980Thr)
|
rs757789191
|
|
|
NM_001267550.2(TTN):c.62946G>T (p.Val20982=)
|
|
|
|
NM_001267550.2(TTN):c.62955T>C (p.Asn20985=)
|
rs2154183334
|
|
|
NM_001267550.2(TTN):c.62966del (p.Tyr20989fs)
|
|
|
|
NM_001267550.2(TTN):c.62976A>G (p.Gly20992=)
|
|
|
|
NM_001267550.2(TTN):c.62978dup (p.Ser20994fs)
|
rs2154183322
|
|
|
NM_001267550.2(TTN):c.62979G>A (p.Lys20993=)
|
rs775732427
|
|
|
NM_001267550.2(TTN):c.62982T>C (p.Ser20994=)
|
rs2154183318
|
|
|
NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter)
|
rs769345390
|
|
|
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter)
|
rs368452607
|
|
|
NM_001267550.2(TTN):c.63032T>A (p.Val21011Asp)
|
rs1553639384
|
|
|
NM_001267550.2(TTN):c.63036T>C (p.Pro21012=)
|
|
|
|
NM_001267550.2(TTN):c.6303C>A (p.Val2101=)
|
rs937168906
|
|
|
NM_001267550.2(TTN):c.6303C>T (p.Val2101=)
|
rs937168906
|
|
|
NM_001267550.2(TTN):c.63047G>C (p.Ser21016Thr)
|
rs1169239147
|
|
|
NM_001267550.2(TTN):c.63048T>C (p.Ser21016=)
|
rs2154183271
|
|
|
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs)
|
rs1559561666
|
|
|
NM_001267550.2(TTN):c.63064C>T (p.Arg21022Cys)
|
rs779112015
|
|
|
NM_001267550.2(TTN):c.63069G>C (p.Met21023Ile)
|
rs1060500596
|
|
|
NM_001267550.2(TTN):c.63078G>A (p.Gln21026=)
|
rs1383048418
|
|
|
NM_001267550.2(TTN):c.63081T>C (p.Asn21027=)
|
|
|
|
NM_001267550.2(TTN):c.63081dup (p.Leu21028fs)
|
|
|
|
NM_001267550.2(TTN):c.63084C>T (p.Leu21028=)
|
|
|
|
NM_001267550.2(TTN):c.63090A>G (p.Pro21030=)
|
rs2154183237
|
|
|
NM_001267550.2(TTN):c.63094del (p.His21032fs)
|
|
|
|
NM_001267550.2(TTN):c.63096del (p.His21032fs)
|
|
|
|
NM_001267550.2(TTN):c.63099A>G (p.Glu21033=)
|
|
|
|
NM_001267550.2(TTN):c.63108C>T (p.Phe21036=)
|
rs1031673060
|
|
|
NM_001267550.2(TTN):c.6312A>G (p.Lys2104=)
|
rs2154345768
|
|
|
NM_001267550.2(TTN):c.63138T>C (p.Ile21046=)
|
rs374466245
|
|
|
NM_001267550.2(TTN):c.63150C>T (p.Ser21050=)
|
rs879047866
|
|
|
NM_001267550.2(TTN):c.63153G>A (p.Leu21051=)
|
|
|
|
NM_001267550.2(TTN):c.6315A>C (p.Pro2105=)
|
rs1347825753
|
|
|
NM_001267550.2(TTN):c.63162A>G (p.Arg21054=)
|
rs1553639081
|
|
|
NM_001267550.2(TTN):c.63171G>A (p.Val21057=)
|
|
|
|
NM_001267550.2(TTN):c.63177A>G (p.Lys21059=)
|
|
|
|
NM_001267550.2(TTN):c.63187+18T>C
|
|
|
|
NM_001267550.2(TTN):c.63187+19T>G
|
|
|
|
NM_001267550.2(TTN):c.63187+5G>A
|
rs1292388582
|
|
|
NM_001267550.2(TTN):c.63188-10T>C
|
|
|
|
NM_001267550.2(TTN):c.63188-17_63188-12del
|
|
|
|
NM_001267550.2(TTN):c.63192A>G (p.Pro21064=)
|
rs2154182833
|
|
|
NM_001267550.2(TTN):c.63195T>A (p.Pro21065=)
|
|
|
|
NM_001267550.2(TTN):c.63210T>C (p.Asn21070=)
|
rs200578829
|
|
|
NM_001267550.2(TTN):c.6321C>T (p.Pro2107=)
|
rs766245195
|
|
|
NM_001267550.2(TTN):c.63222T>C (p.Val21074=)
|
rs2154182809
|
|
|
NM_001267550.2(TTN):c.63228A>T (p.Thr21076=)
|
|
|
|
NM_001267550.2(TTN):c.63234del (p.Lys21078fs)
|
|
|
|
NM_001267550.2(TTN):c.63246T>A (p.Thr21082=)
|
|
|
|
NM_001267550.2(TTN):c.63250G>A (p.Gly21084Arg)
|
rs1559557623
|
|
|
NM_001267550.2(TTN):c.63255G>A (p.Trp21085Ter)
|
rs1553638539
|
|
|
NM_001267550.2(TTN):c.63258A>G (p.Gly21086=)
|
rs956164243
|
|
|
NM_001267550.2(TTN):c.63270T>G (p.Tyr21090Ter)
|
rs878991431
|
|
|
NM_001267550.2(TTN):c.63294A>C (p.Gly21098=)
|
rs2154182736
|
|
|
NM_001267550.2(TTN):c.63298G>A (p.Val21100Ile)
|
rs774240012
|
|
|
NM_001267550.2(TTN):c.63300T>G (p.Val21100=)
|
rs2154182730
|
|
|
NM_001267550.2(TTN):c.63303_63304delinsTT (p.Glu21102Ter)
|
|
|
|
NM_001267550.2(TTN):c.6330A>G (p.Glu2110=)
|
|
|
|
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)
|
rs370687831
|
|
|
NM_001267550.2(TTN):c.6332G>A (p.Trp2111Ter)
|
|
|
|
NM_001267550.2(TTN):c.63333T>C (p.Ser21111=)
|
rs780374544
|
|
|
NM_001267550.2(TTN):c.63343G>A (p.Gly21115Ser)
|
rs1559556478
|
|
|
NM_001267550.2(TTN):c.63367dup (p.Ala21123fs)
|
rs2154182688
|
|
|
NM_001267550.2(TTN):c.63375T>A (p.Leu21125=)
|
|
|
|
NM_001267550.2(TTN):c.63375T>G (p.Leu21125=)
|
rs1451470128
|
|
|
NM_001267550.2(TTN):c.63408T>C (p.Asp21136=)
|
rs1047829961
|
|
|
NM_001267550.2(TTN):c.63413_63420dup (p.Tyr21141fs)
|
|
|
|
NM_001267550.2(TTN):c.63422_63423dup (p.Glu21142fs)
|
|
|
|
NM_001267550.2(TTN):c.63446A>C (p.Asn21149Thr)
|
rs1060500527
|
|
|
NM_001267550.2(TTN):c.63450A>G (p.Gln21150=)
|
rs2049398530
|
|
|
NM_001267550.2(TTN):c.63465C>A (p.Arg21155=)
|
rs1576041891
|
|
|
NM_001267550.2(TTN):c.63468T>C (p.Pro21156=)
|
|
|
|
NM_001267550.2(TTN):c.63504del (p.Ile21168_Leu21169insTer)
|
rs2154182600
|
|
|
NM_001267550.2(TTN):c.63505C>T (p.Leu21169=)
|
rs543686186
|
|
|
NM_001267550.2(TTN):c.63508+12_63508+13dup
|
|
|
|
NM_001267550.2(TTN):c.63508+13C>T
|
|
|
|
NM_001267550.2(TTN):c.63508+17G>A
|
|
|
|
NM_001267550.2(TTN):c.63508+18C>A
|
|
|
|
NM_001267550.2(TTN):c.63508+19A>G
|
|
|
|
NM_001267550.2(TTN):c.63508+7C>A
|
rs2154182593
|
|
|
NM_001267550.2(TTN):c.63508+7C>T
|
rs2154182593
|
|
|
NM_001267550.2(TTN):c.63509-11G>A
|
rs2154182515
|
|
|
NM_001267550.2(TTN):c.63509-17C>T
|
rs1203307413
|
|
|
NM_001267550.2(TTN):c.63509-6T>C
|
|
|
|
NM_001267550.2(TTN):c.63522T>A (p.Ile21174=)
|
rs1576038931
|
|
|
NM_001267550.2(TTN):c.63526_63527del (p.Leu21176fs)
|
rs2154182483
|
|
|
NM_001267550.2(TTN):c.63546dup (p.Leu21183fs)
|
|
|
|
NM_001267550.2(TTN):c.63552C>G (p.Val21184=)
|
|
|
|
NM_001267550.2(TTN):c.63561A>G (p.Arg21187=)
|
|
|
|
NM_001267550.2(TTN):c.63577dup (p.Arg21193fs)
|
rs2154182439
|
|
|
NM_001267550.2(TTN):c.63578del (p.Arg21193fs)
|
rs2154182432
|
|
|
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)
|
rs141142920
|
|
|
NM_001267550.2(TTN):c.63601C>A (p.Arg21201=)
|
rs764243269
|
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
|
NM_001267550.2(TTN):c.63609C>T (p.Ala21203=)
|
rs774991215
|
|
|
NM_001267550.2(TTN):c.63625C>A (p.Arg21209=)
|
rs794729279
|
|
|
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter)
|
rs794729279
|
|
|
NM_001267550.2(TTN):c.63636C>T (p.Gly21212=)
|
|
|
|
NM_001267550.2(TTN):c.63663A>G (p.Gln21221=)
|
|
|
|
NM_001267550.2(TTN):c.63674T>C (p.Val21225Ala)
|
rs1396646735
|
|
|
NM_001267550.2(TTN):c.63675del (p.Asp21226fs)
|
rs2154182357
|
|
|
NM_001267550.2(TTN):c.63693T>C (p.Leu21231=)
|
|
|
|
NM_001267550.2(TTN):c.6369G>A (p.Arg2123=)
|
rs267599088
|
|
|
NM_001267550.2(TTN):c.6369G>T (p.Arg2123=)
|
|
|
|
NM_001267550.2(TTN):c.63714T>A (p.Arg21238=)
|
|
|
|
NM_001267550.2(TTN):c.63722delinsAA (p.Ser21241Ter)
|
rs2049307995
|
|
|
NM_001267550.2(TTN):c.63729A>G (p.Lys21243=)
|
rs2154182324
|
|
|
NM_001267550.2(TTN):c.63741A>T (p.Thr21247=)
|
|
|
|
NM_001267550.2(TTN):c.63747del (p.Asn21250fs)
|
|
|
|
NM_001267550.2(TTN):c.63753A>T (p.Pro21251=)
|
rs1245688306
|
|
|
NM_001267550.2(TTN):c.63754del (p.Ala21252fs)
|
rs2154182312
|
|
|
NM_001267550.2(TTN):c.6375C>T (p.Tyr2125=)
|
rs2092122331
|
|
|
NM_001267550.2(TTN):c.63774C>T (p.Phe21258=)
|
|
|
|
NM_001267550.2(TTN):c.6377G>A (p.Trp2126Ter)
|
|
|
|
NM_001267550.2(TTN):c.63780T>C (p.Asn21260=)
|
rs1238332140
|
|
|
NM_001267550.2(TTN):c.6378G>A (p.Trp2126Ter)
|
rs754781119
|
|
|
NM_001267550.2(TTN):c.63793+1G>A
|
rs2154182296
|
|
|
NM_001267550.2(TTN):c.63793+4G>C
|
rs777513250
|
|
|
NM_001267550.2(TTN):c.63793+5G>A
|
rs2049296291
|
|
|
NM_001267550.2(TTN):c.63793+8A>G
|
|
|
|
NM_001267550.2(TTN):c.63793+9C>T
|
|
|
|
NM_001267550.2(TTN):c.63793G>T (p.Asp21265Tyr)
|
rs794729474
|
|
|
NM_001267550.2(TTN):c.63794-19del
|
|
|
|
NM_001267550.2(TTN):c.63794-1G>A
|
rs2049262622
|
|
|
NM_001267550.2(TTN):c.63794-4A>T
|
rs2154182176
|
|
|
NM_001267550.2(TTN):c.63794-5T>A
|
rs767131398
|
|
|
NM_001267550.2(TTN):c.63794-8C>T
|
|
|
|
NM_001267550.2(TTN):c.63798T>C (p.Thr21266=)
|
|
|
|
NM_001267550.2(TTN):c.63801del (p.Pro21269fs)
|
rs1553636843
|
|
|
NM_001267550.2(TTN):c.63810G>A (p.Val21270=)
|
rs1452090791
|
|
|
NM_001267550.2(TTN):c.6381C>G (p.Tyr2127Ter)
|
rs2092121151
|
|
|
NM_001267550.2(TTN):c.63834C>T (p.Val21278=)
|
rs911870330
|
|
|
NM_001267550.2(TTN):c.63837T>G (p.Thr21279=)
|
rs749221889
|
|
|
NM_001267550.2(TTN):c.63845C>G (p.Ser21282Ter)
|
|
|
|
NM_001267550.2(TTN):c.63851_63864del (p.His21284fs)
|
|
|
|
NM_001267550.2(TTN):c.63879del (p.Asp21293fs)
|
rs2154182119
|
|
|
NM_001267550.2(TTN):c.6388G>T (p.Glu2130Ter)
|
rs762914675
|
|
|
NM_001267550.2(TTN):c.63897A>G (p.Thr21299=)
|
|
|
|
NM_001267550.2(TTN):c.63927C>T (p.Asp21309=)
|
|
|
|
NM_001267550.2(TTN):c.63945C>A (p.Thr21315=)
|
|
|
|
NM_001267550.2(TTN):c.63982del (p.Thr21328fs)
|
|
|
|
NM_001267550.2(TTN):c.63999G>A (p.Gly21333=)
|
|
|
|
NM_001267550.2(TTN):c.6399T>C (p.Val2133=)
|
rs2154345729
|
|
|
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)
|
rs1553636324
|
|
|
NM_001267550.2(TTN):c.64029C>G (p.Val21343=)
|
rs186381468
|
|
|
NM_001267550.2(TTN):c.64029C>T (p.Val21343=)
|
|
|
|
NM_001267550.2(TTN):c.64033G>T (p.Glu21345Ter)
|
|
|
|
NM_001267550.2(TTN):c.64044T>C (p.Pro21348=)
|
rs2154181987
|
|
|
NM_001267550.2(TTN):c.64065A>C (p.Pro21355=)
|
|
|
|
NM_001267550.2(TTN):c.64074G>T (p.Val21358=)
|
rs2049193782
|
|
|
NM_001267550.2(TTN):c.64082C>A (p.Ser21361Ter)
|
|
|
|
NM_001267550.2(TTN):c.64093+11T>C
|
|
|
|
NM_001267550.2(TTN):c.64093+12G>A
|
|
|
|
NM_001267550.2(TTN):c.64093+15T>C
|
rs1330809883
|
|
|
NM_001267550.2(TTN):c.64093+18T>C
|
|
|
|
NM_001267550.2(TTN):c.64093+19del
|
|
|
|
NM_001267550.2(TTN):c.64093+1G>A
|
|
|
|
NM_001267550.2(TTN):c.64093+20C>G
|
|
|
|
NM_001267550.2(TTN):c.64093+20C>T
|
|
|
|
NM_001267550.2(TTN):c.64093+4A>C
|
|
|
|
NM_001267550.2(TTN):c.64093+4_64093+7del
|
rs1437065772
|
|
|
NM_001267550.2(TTN):c.64093+9T>C
|
rs750120832
|
|
|
NM_001267550.2(TTN):c.64094-13G>A
|
|
|
|
NM_001267550.2(TTN):c.64094-14T>C
|
rs544434918
|
|
|
NM_001267550.2(TTN):c.64094-15A>G
|
|
|
|
NM_001267550.2(TTN):c.64094-1G>C
|
rs2154181635
|
|
|
NM_001267550.2(TTN):c.64094-2A>G
|
rs876657667
|
|
|
NM_001267550.2(TTN):c.64094-8T>C
|
|
|
|
NM_001267550.2(TTN):c.6409del (p.Val2137fs)
|
rs2092117117
|
|
|
NM_001267550.2(TTN):c.64117T>C (p.Leu21373=)
|
rs2154181610
|
|
|
NM_001267550.2(TTN):c.64123G>C (p.Val21375Leu)
|
rs371670651
|
|
|
NM_001267550.2(TTN):c.64152C>A (p.Thr21384=)
|
|
|
|
NM_001267550.2(TTN):c.64153T>C (p.Leu21385=)
|
|
|
|
NM_001267550.2(TTN):c.64158C>G (p.Ala21386=)
|
rs1060503926
|
|
|
NM_001267550.2(TTN):c.64170C>G (p.Pro21390=)
|
rs779586083
|
|
|
NM_001267550.2(TTN):c.64170C>T (p.Pro21390=)
|
|
|
|
NM_001267550.2(TTN):c.64179T>C (p.Asp21393=)
|
rs1576016824
|
|
|
NM_001267550.2(TTN):c.64185T>C (p.Gly21395=)
|
|
|
|
NM_001267550.2(TTN):c.64197T>C (p.Asp21399=)
|
|
|
|
NM_001267550.2(TTN):c.64200C>T (p.Gly21400=)
|
rs2154181567
|
|
|
NM_001267550.2(TTN):c.64216A>T (p.Arg21406Ter)
|
rs2049052530
|
|
|
NM_001267550.2(TTN):c.64221A>G (p.Glu21407=)
|
rs1553635514
|
|
|
NM_001267550.2(TTN):c.64222G>T (p.Glu21408Ter)
|
rs1576015923
|
|
|
NM_001267550.2(TTN):c.64233T>G (p.Pro21411=)
|
rs2049048163
|
|
|
NM_001267550.2(TTN):c.64242C>A (p.Arg21414=)
|
rs2154181537
|
|
|
NM_001267550.2(TTN):c.64245G>A (p.Trp21415Ter)
|
|
|
|
NM_001267550.2(TTN):c.64249_64253dup (p.Tyr21418Ter)
|
rs794729329
|
|
|
NM_001267550.2(TTN):c.64272G>T (p.Leu21424=)
|
|
|
|
NM_001267550.2(TTN):c.64278T>G (p.Leu21426=)
|
|
|
|
NM_001267550.2(TTN):c.64287del (p.Gly21430fs)
|
rs2049038862
|
|
|
NM_001267550.2(TTN):c.64291C>T (p.Leu21431=)
|
|
|
|
NM_001267550.2(TTN):c.64297del (p.Glu21433fs)
|
rs1576014780
|
|
|
NM_001267550.2(TTN):c.64314A>G (p.Lys21438=)
|
rs2154181500
|
|
|
NM_001267550.2(TTN):c.64314del (p.Lys21438fs)
|
rs2154181503
|
|
|
NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter)
|
rs1576014673
|
|
|
NM_001267550.2(TTN):c.64344A>G (p.Gly21448=)
|
|
|
|
NM_001267550.2(TTN):c.64352T>A (p.Leu21451Ter)
|
rs777425925
|
|
|
NM_001267550.2(TTN):c.64396+14G>C
|
|
|
|
NM_001267550.2(TTN):c.64396+15C>T
|
|
|
|
NM_001267550.2(TTN):c.64396+19A>G
|
|
|
|
NM_001267550.2(TTN):c.64396+2T>C
|
rs2154181458
|
|
|
NM_001267550.2(TTN):c.64396+4A>G
|
rs2049020856
|
|
|
NM_001267550.2(TTN):c.64396+9T>C
|
|
|
|
NM_001267550.2(TTN):c.64397-13A>G
|
|
|
|
NM_001267550.2(TTN):c.64397-19C>A
|
|
|
|
NM_001267550.2(TTN):c.64397-20T>C
|
|
|
|
NM_001267550.2(TTN):c.64397-2del
|
|
|
|
NM_001267550.2(TTN):c.64397-9T>G
|
rs2154180463
|
|
|
NM_001267550.2(TTN):c.6441C>T (p.Ala2147=)
|
rs2092111862
|
|
|
NM_001267550.2(TTN):c.64423C>T (p.Gln21475Ter)
|
|
|
|
NM_001267550.2(TTN):c.64427_64428dup (p.Thr21477Ter)
|
rs1559536156
|
|
|
NM_001267550.2(TTN):c.64443dup (p.Lys21482fs)
|
|
|
|
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter)
|
rs768345594
|
|
|
NM_001267550.2(TTN):c.64461A>G (p.Glu21487=)
|
rs2048679694
|
|
|
NM_001267550.2(TTN):c.64473T>C (p.Tyr21491=)
|
|
|
|
NM_001267550.2(TTN):c.64506dup (p.Gly21503fs)
|
|
|
|
NM_001267550.2(TTN):c.64516G>T (p.Glu21506Ter)
|
|
|
|
NM_001267550.2(TTN):c.64518del (p.Val21507fs)
|
rs2154180376
|
|
|
NM_001267550.2(TTN):c.6453A>G (p.Val2151=)
|
|
|
|
NM_001267550.2(TTN):c.64541C>T (p.Ala21514Val)
|
rs1060500520
|
|
|
NM_001267550.2(TTN):c.64545G>A (p.Val21515=)
|
rs2154180366
|
|
|
NM_001267550.2(TTN):c.64548T>C (p.His21516=)
|
rs878894570
|
|
|
NM_001267550.2(TTN):c.64577dup (p.Asp21528fs)
|
rs2048654277
|
|
|
NM_001267550.2(TTN):c.64583_64592dup (p.Arg21531_Lys21532insCysAspTer)
|
rs2154180338
|
|
|
NM_001267550.2(TTN):c.64590T>C (p.Thr21530=)
|
|
|
|
NM_001267550.2(TTN):c.64593G>A (p.Arg21531=)
|
|
|
|
NM_001267550.2(TTN):c.64594_64601del (p.Lys21532fs)
|
|
|
|
NM_001267550.2(TTN):c.64596A>G (p.Lys21532=)
|
|
|
|
NM_001267550.2(TTN):c.64632T>C (p.Ser21544=)
|
rs2154180316
|
|
|
NM_001267550.2(TTN):c.64638G>C (p.Gly21546=)
|
rs2154180312
|
|
|
NM_001267550.2(TTN):c.64655_64659dup (p.Val21554fs)
|
|
|
|
NM_001267550.2(TTN):c.64672+11T>A
|
rs752070307
|
|
|
NM_001267550.2(TTN):c.64672+18C>T
|
|
|
|
NM_001267550.2(TTN):c.64672+1G>A
|
rs2048635392
|
|
|
NM_001267550.2(TTN):c.64672+2T>A
|
|
|
|
NM_001267550.2(TTN):c.64672+2T>C
|
rs2154180290
|
|
|
NM_001267550.2(TTN):c.64672G>A (p.Asp21558Asn)
|
|
|
|
NM_001267550.2(TTN):c.64672G>T (p.Asp21558Tyr)
|
|
|
|
NM_001267550.2(TTN):c.64673-11G>C
|
|
|
|
NM_001267550.2(TTN):c.64673-14C>T
|
|
|
|
NM_001267550.2(TTN):c.64673-1G>A
|
rs2154180190
|
|
|
NM_001267550.2(TTN):c.64673-2A>G
|
rs2154180194
|
|
|
NM_001267550.2(TTN):c.64674T>C (p.Asp21558=)
|
|
|
|
NM_001267550.2(TTN):c.64680C>T (p.Pro21560=)
|
rs1274370581
|
|
|
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs)
|
rs794729330
|
|
|
NM_001267550.2(TTN):c.64683C>A (p.Gly21561=)
|
|
|
|
NM_001267550.2(TTN):c.64683C>G (p.Gly21561=)
|
rs542156552
|
|
|
NM_001267550.2(TTN):c.64683C>T (p.Gly21561=)
|
rs542156552
|
|
|
NM_001267550.2(TTN):c.64686C>A (p.Pro21562=)
|
|
|
|
NM_001267550.2(TTN):c.64688C>G (p.Pro21563Arg)
|
|
|
|
NM_001267550.2(TTN):c.64688_64689insA (p.Gln21564fs)
|
rs2154180169
|
|
|
NM_001267550.2(TTN):c.64688del (p.Pro21563fs)
|
rs774395395
|
|
|
NM_001267550.2(TTN):c.64688dup (p.Gln21564fs)
|
rs774395395
|
|
|
NM_001267550.2(TTN):c.64689T>A (p.Pro21563=)
|
rs1575983572
|
|
|
NM_001267550.2(TTN):c.64698A>G (p.Pro21566=)
|
rs1060503935
|
|
|
NM_001267550.2(TTN):c.64698A>T (p.Pro21566=)
|
rs1060503935
|
|
|
NM_001267550.2(TTN):c.64708del (p.Ser21570fs)
|
rs2048590205
|
|
|
NM_001267550.2(TTN):c.64732T>G (p.Ser21578Ala)
|
rs1553633161
|
|
|
NM_001267550.2(TTN):c.64742G>A (p.Trp21581Ter)
|
rs1057523344
|
|
|
NM_001267550.2(TTN):c.64749C>T (p.Ile21583=)
|
rs2048582964
|
|
|
NM_001267550.2(TTN):c.64752T>C (p.Pro21584=)
|
|
|
|
NM_001267550.2(TTN):c.64753C>A (p.Leu21585Met)
|
rs772957708
|
|
|
NM_001267550.2(TTN):c.64781A>C (p.Asn21594Thr)
|
rs1060500570
|
|
|
NM_001267550.2(TTN):c.6480C>T (p.Thr2160=)
|
|
|
|
NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter)
|
|
|
|
NM_001267550.2(TTN):c.64836T>C (p.Ala21612=)
|
rs2154180096
|
|
|
NM_001267550.2(TTN):c.64843dup (p.Thr21615fs)
|
rs2048567077
|
|
|
NM_001267550.2(TTN):c.64851T>C (p.Thr21617=)
|
rs1553632924
|
|
|
NM_001267550.2(TTN):c.64860G>C (p.Arg21620Ser)
|
rs373713828
|
|
|
NM_001267550.2(TTN):c.64875C>A (p.Ile21625=)
|
rs907125933
|
|
|
NM_001267550.2(TTN):c.64884G>A (p.Gln21628=)
|
rs772347925
|
|
|
NM_001267550.2(TTN):c.64890C>A (p.Tyr21630Ter)
|
|
|
|
NM_001267550.2(TTN):c.64893C>T (p.Ile21631=)
|
rs2154180065
|
|
|
NM_001267550.2(TTN):c.64899G>C (p.Arg21633=)
|
rs2154180058
|
|
|
NM_001267550.2(TTN):c.64908T>A (p.Ala21636=)
|
|
|
|
NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter)
|
rs1432889079
|
|
|
NM_001267550.2(TTN):c.64917A>T (p.Arg21639=)
|
rs2048555376
|
|
|
NM_001267550.2(TTN):c.64937T>C (p.Leu21646Pro)
|
rs1060500539
|
|
|
NM_001267550.2(TTN):c.64938C>G (p.Leu21646=)
|
|
|
|
NM_001267550.2(TTN):c.64941A>G (p.Thr21647=)
|
|
|
|
NM_001267550.2(TTN):c.64956T>A (p.Val21652=)
|
rs2154180021
|
|
|
NM_001267550.2(TTN):c.64956T>C (p.Val21652=)
|
|
|
|
NM_001267550.2(TTN):c.64972+10T>G
|
|
|
|
NM_001267550.2(TTN):c.64972+10del
|
rs770999001
|
|
|
NM_001267550.2(TTN):c.64972+11G>A
|
|
|
|
NM_001267550.2(TTN):c.64972+15del
|
rs878936145
|
|
|
NM_001267550.2(TTN):c.64972+20A>C
|
|
|
|
NM_001267550.2(TTN):c.64972+20A>G
|
rs2154179985
|
|
|
NM_001267550.2(TTN):c.64973-1G>C
|
rs2154179915
|
|
|
NM_001267550.2(TTN):c.6497T>G (p.Leu2166Ter)
|
|
|
|
NM_001267550.2(TTN):c.64989A>G (p.Pro21663=)
|
|
|
|
NM_001267550.2(TTN):c.64998A>G (p.Ala21666=)
|
rs876657612
|
|
|
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)
|
rs794729280
|
|
|
NM_001267550.2(TTN):c.65024G>A (p.Cys21675Tyr)
|
rs1060500571
|
|
|
NM_001267550.2(TTN):c.65048C>A (p.Pro21683Gln)
|
rs1328998714
|
|
|
NM_001267550.2(TTN):c.6504C>T (p.Val2168=)
|
|
|
|
NM_001267550.2(TTN):c.65055T>C (p.Ser21685=)
|
|
|
|
NM_001267550.2(TTN):c.65064G>T (p.Gly21688=)
|
|
|
|
NM_001267550.2(TTN):c.65072T>C (p.Ile21691Thr)
|
rs1060500388
|
|
|
NM_001267550.2(TTN):c.6508+11T>A
|
|
|
|
NM_001267550.2(TTN):c.6508+13T>C
|
|
|
|
NM_001267550.2(TTN):c.6508+14C>A
|
rs771328770
|
|
|
NM_001267550.2(TTN):c.6508+14C>G
|
|
|
|
NM_001267550.2(TTN):c.65087_65100del (p.Ile21696fs)
|
|
|
|
NM_001267550.2(TTN):c.6509-10T>C
|
|
|
|
NM_001267550.2(TTN):c.6509-16C>T
|
|
|
|
NM_001267550.2(TTN):c.6509-16del
|
|
|
|
NM_001267550.2(TTN):c.6509-1G>T
|
|
|
|
NM_001267550.2(TTN):c.6509-20C>T
|
|
|
|
NM_001267550.2(TTN):c.65093G>A (p.Arg21698His)
|
rs371581072
|
|
|
NM_001267550.2(TTN):c.65112G>A (p.Leu21704=)
|
rs2048484335
|
|
|
NM_001267550.2(TTN):c.65114T>A (p.Leu21705Gln)
|
rs2154179812
|
|
|
NM_001267550.2(TTN):c.65115G>C (p.Leu21705=)
|
rs1449900594
|
|
|
NM_001267550.2(TTN):c.65142C>G (p.Val21714=)
|
rs1575973571
|
|
|
NM_001267550.2(TTN):c.65145G>C (p.Arg21715=)
|
|
|
|
NM_001267550.2(TTN):c.6514C>T (p.Gln2172Ter)
|
|
|
|
NM_001267550.2(TTN):c.65159C>T (p.Pro21720Leu)
|
rs878854325
|
|
|
NM_001267550.2(TTN):c.6517T>C (p.Leu2173=)
|
rs760798049
|
|
|
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)
|
rs397517660
|
|
|
NM_001267550.2(TTN):c.65193A>G (p.Ser21731=)
|
|
|
|
NM_001267550.2(TTN):c.65193A>T (p.Ser21731=)
|
|
|
|
NM_001267550.2(TTN):c.65205T>C (p.Tyr21735=)
|
|
|
|
NM_001267550.2(TTN):c.65206G>T (p.Ala21736Ser)
|
rs1320436212
|
|
|
NM_001267550.2(TTN):c.6520A>G (p.Ile2174Val)
|
rs1171508892
|
|
|
NM_001267550.2(TTN):c.65212_65213del (p.Asn21738fs)
|
|
|
|
NM_001267550.2(TTN):c.65244C>T (p.Pro21748=)
|
|
|
|
NM_001267550.2(TTN):c.65253T>C (p.Tyr21751=)
|
rs2048453002
|
|
|
NM_001267550.2(TTN):c.65275+20T>A
|
|
|
|
NM_001267550.2(TTN):c.65275+20del
|
rs747219831
|
|
|
NM_001267550.2(TTN):c.65276-16C>A
|
rs370634364
|
|
|
NM_001267550.2(TTN):c.65276-18T>A
|
|
|
|
NM_001267550.2(TTN):c.65276-19G>A
|
|
|
|
NM_001267550.2(TTN):c.65276-6T>A
|
|
|
|
NM_001267550.2(TTN):c.65276-7_65276-4del
|
|
|
|
NM_001267550.2(TTN):c.65276-8T>G
|
rs377484398
|
|
|
NM_001267550.2(TTN):c.65280T>G (p.Pro21760=)
|
|
|
|
NM_001267550.2(TTN):c.65289A>G (p.Lys21763=)
|
|
|
|
NM_001267550.2(TTN):c.65301T>C (p.Ile21767=)
|
rs2154179311
|
|
|
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter)
|
rs1193046655
|
|
|
NM_001267550.2(TTN):c.65370T>C (p.Ile21790=)
|
|
|
|
NM_001267550.2(TTN):c.65394A>G (p.Lys21798=)
|
|
|
|
NM_001267550.2(TTN):c.65403T>C (p.Gly21801=)
|
|
|
|
NM_001267550.2(TTN):c.65418G>A (p.Arg21806=)
|
rs1428029274
|
|
|
NM_001267550.2(TTN):c.65427T>C (p.Thr21809=)
|
|
|
|
NM_001267550.2(TTN):c.65437C>T (p.Gln21813Ter)
|
rs1575960580
|
|
|
NM_001267550.2(TTN):c.65439G>A (p.Gln21813=)
|
|
|
|
NM_001267550.2(TTN):c.654A>G (p.Gln218=)
|
rs1158294800
|
|
|
NM_001267550.2(TTN):c.65505del (p.Ile21835fs)
|
rs1559521007
|
|
|
NM_001267550.2(TTN):c.65514C>G (p.Thr21838=)
|
rs372543748
|
|
|
NM_001267550.2(TTN):c.65517G>A (p.Ala21839=)
|
rs1390911668
|
|
|
NM_001267550.2(TTN):c.65529C>T (p.Ser21843=)
|
|
|
|
NM_001267550.2(TTN):c.65531del (p.Pro21844fs)
|
rs794729331
|
|
|
NM_001267550.2(TTN):c.65535T>A (p.Pro21845=)
|
rs2048282152
|
|
|
NM_001267550.2(TTN):c.65546C>T (p.Ser21849Phe)
|
rs1060500465
|
|
|
NM_001267550.2(TTN):c.65550T>C (p.Asp21850=)
|
rs1225676335
|
|
|
NM_001267550.2(TTN):c.65562C>A (p.Ile21854=)
|
rs1575958372
|
|
|
NM_001267550.2(TTN):c.65573dup (p.Asn21858fs)
|
|
|
|
NM_001267550.2(TTN):c.65575+13T>A
|
|
|
|
NM_001267550.2(TTN):c.65575+16G>A
|
|
|
|
NM_001267550.2(TTN):c.65575+1del
|
rs2154179114
|
|
|
NM_001267550.2(TTN):c.65575+7T>C
|
rs2048271692
|
|
|
NM_001267550.2(TTN):c.65576-13T>G
|
|
|
|
NM_001267550.2(TTN):c.65576-15_65576-11del
|
rs1064795987
|
|
|
NM_001267550.2(TTN):c.65576-18T>A
|
|
|
|
NM_001267550.2(TTN):c.65580T>C (p.Pro21860=)
|
rs922548535
|
|
|
NM_001267550.2(TTN):c.65583C>A (p.Pro21861=)
|
|
|
|
NM_001267550.2(TTN):c.65595del (p.Ser21866fs)
|
|
|
|
NM_001267550.2(TTN):c.6564del (p.Asp2189fs)
|
|
|
|
NM_001267550.2(TTN):c.65655T>C (p.Ala21885=)
|
rs2154178750
|
|
|
NM_001267550.2(TTN):c.65657_65658del (p.Thr21886fs)
|
rs2048154655
|
|
|
NM_001267550.2(TTN):c.65661_65677del (p.Phe21888fs)
|
rs2048149402
|
|
|
NM_001267550.2(TTN):c.6567C>T (p.Asp2189=)
|
rs879111475
|
|
|
NM_001267550.2(TTN):c.65682A>C (p.Thr21894=)
|
rs4894029
|
|
|
NM_001267550.2(TTN):c.6570dup (p.Met2191fs)
|
rs2092066056
|
|
|
NM_001267550.2(TTN):c.65710C>T (p.Leu21904=)
|
rs2048143083
|
|
|
NM_001267550.2(TTN):c.65712A>G (p.Leu21904=)
|
|
|
|
NM_001267550.2(TTN):c.65718A>G (p.Pro21906=)
|
|
|
|
NM_001267550.2(TTN):c.65724A>G (p.Glu21908=)
|
|
|
|
NM_001267550.2(TTN):c.65739C>T (p.Ala21913=)
|
rs1284931621
|
|
|
NM_001267550.2(TTN):c.65748G>A (p.Arg21916=)
|
|
|
|
NM_001267550.2(TTN):c.65755_65756del (p.Cys21919fs)
|
rs1553629143
|
|
|
NM_001267550.2(TTN):c.65758_65759del (p.Thr21920fs)
|
rs1553629105
|
|
|
NM_001267550.2(TTN):c.65769A>C (p.Leu21923=)
|
|
|
|
NM_001267550.2(TTN):c.65792C>G (p.Ser21931Ter)
|
|
|
|
NM_001267550.2(TTN):c.6579C>A (p.Thr2193=)
|
|
|
|
NM_001267550.2(TTN):c.6579C>G (p.Thr2193=)
|
rs1574640695
|
|
|
NM_001267550.2(TTN):c.657C>G (p.Thr219=)
|
rs979222061
|
|
|
NM_001267550.2(TTN):c.65812_65863+6del
|
rs2048116266
|
|
|
NM_001267550.2(TTN):c.65814T>C (p.Ala21938=)
|
rs2154178636
|
|
|
NM_001267550.2(TTN):c.65829T>C (p.Gly21943=)
|
rs1575945587
|
|
|
NM_001267550.2(TTN):c.65859G>A (p.Val21953=)
|
|
|
|
NM_001267550.2(TTN):c.65863+10A>C
|
rs2154178608
|
|
|
NM_001267550.2(TTN):c.65863+13C>T
|
rs2154178607
|
|
|
NM_001267550.2(TTN):c.65863+17A>T
|
|
|
|
NM_001267550.2(TTN):c.65863+2T>A
|
|
|
|
NM_001267550.2(TTN):c.65863G>A (p.Asp21955Asn)
|
rs1428859947
|
|
|
NM_001267550.2(TTN):c.65864-13C>G
|
|
|
|
NM_001267550.2(TTN):c.65864-17C>T
|
|
|
|
NM_001267550.2(TTN):c.65864-9T>C
|
|
|
|
NM_001267550.2(TTN):c.65883A>C (p.Ala21961=)
|
|
|
|
NM_001267550.2(TTN):c.65889T>C (p.Val21963=)
|
rs2154178277
|
|
|
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter)
|
rs748313513
|
|
|
NM_001267550.2(TTN):c.65913T>C (p.Asp21971=)
|
rs1313945258
|
|
|
NM_001267550.2(TTN):c.65955C>A (p.Gly21985=)
|
|
|
|
NM_001267550.2(TTN):c.65979T>C (p.Val21993=)
|
|
|
|
NM_001267550.2(TTN):c.6597A>C (p.Ser2199=)
|
|
|
|
NM_001267550.2(TTN):c.66008G>A (p.Trp22003Ter)
|
rs1229556495
|
|
|
NM_001267550.2(TTN):c.66012T>C (p.Ala22004=)
|
|
|
|
NM_001267550.2(TTN):c.66024A>C (p.Ala22008=)
|
|
|
|
NM_001267550.2(TTN):c.66027T>G (p.Thr22009=)
|
rs1553628094
|
|
|
NM_001267550.2(TTN):c.66039del (p.Ser22014fs)
|
rs1553628052
|
|
|
NM_001267550.2(TTN):c.66042C>T (p.Ser22014=)
|
|
|
|
NM_001267550.2(TTN):c.66054G>A (p.Glu22018=)
|
rs727503579
|
|
|
NM_001267550.2(TTN):c.66059_66060insAT (p.Ile22021fs)
|
rs2047981524
|
|
|
NM_001267550.2(TTN):c.66060T>C (p.Leu22020=)
|
rs1575934707
|
|
|
NM_001267550.2(TTN):c.66062_66063del (p.Ile22021fs)
|
|
|
|
NM_001267550.2(TTN):c.66075G>A (p.Glu22025=)
|
|
|
|
NM_001267550.2(TTN):c.66079C>T (p.Gln22027Ter)
|
rs2047976018
|
|
|
NM_001267550.2(TTN):c.66084C>T (p.Phe22028=)
|
|
|
|
NM_001267550.2(TTN):c.66090T>C (p.Ile22030=)
|
rs2154178119
|
|
|
NM_001267550.2(TTN):c.66099A>G (p.Glu22033=)
|
|
|
|
NM_001267550.2(TTN):c.6609C>G (p.Val2203=)
|
rs2092059385
|
|
|
NM_001267550.2(TTN):c.66108T>C (p.Tyr22036=)
|
rs2154178109
|
|
|
NM_001267550.2(TTN):c.66111A>T (p.Gly22037=)
|
rs1400343393
|
|
|
NM_001267550.2(TTN):c.6615G>T (p.Val2205=)
|
rs2154345516
|
|
|
NM_001267550.2(TTN):c.66160+10T>C
|
|
|
|
NM_001267550.2(TTN):c.66160+1G>T
|
rs2047961752
|
|
|
NM_001267550.2(TTN):c.66161-12_66161-9del
|
rs758125069
|
|
|
NM_001267550.2(TTN):c.66161-18T>C
|
|
|
|
NM_001267550.2(TTN):c.66161-1G>C
|
rs1553627403
|
|
|
NM_001267550.2(TTN):c.66189T>C (p.Val22063=)
|
rs985631959
|
|
|
NM_001267550.2(TTN):c.66231G>A (p.Lys22077=)
|
|
|
|
NM_001267550.2(TTN):c.66237A>G (p.Pro22079=)
|
rs2154177912
|
|
|
NM_001267550.2(TTN):c.66239_66242dup (p.Asp22082fs)
|
rs2047913995
|
|
|
NM_001267550.2(TTN):c.6624T>C (p.Tyr2208=)
|
|
|
|
NM_001267550.2(TTN):c.66254C>A (p.Ser22085Ter)
|
|
|
|
NM_001267550.2(TTN):c.66256C>T (p.Pro22086Ser)
|
rs1060500491
|
|
|
NM_001267550.2(TTN):c.66291C>T (p.Thr22097=)
|
rs2154177874
|
|
|
NM_001267550.2(TTN):c.66306G>A (p.Trp22102Ter)
|
|
|
|
NM_001267550.2(TTN):c.66319del (p.Arg22107fs)
|
rs2047900528
|
|
|
NM_001267550.2(TTN):c.66342A>G (p.Thr22114=)
|
rs2154177840
|
|
|
NM_001267550.2(TTN):c.66345A>G (p.Leu22115=)
|
rs371010572
|
|
|
NM_001267550.2(TTN):c.66361C>T (p.Gln22121Ter)
|
|
|
|
NM_001267550.2(TTN):c.66372C>A (p.Thr22124=)
|
rs756981729
|
|
|
NM_001267550.2(TTN):c.66378dup (p.Glu22127Ter)
|
|
|
|
NM_001267550.2(TTN):c.66429C>T (p.Asp22143=)
|
rs1367041984
|
|
|
NM_001267550.2(TTN):c.66430G>T (p.Ala22144Ser)
|
rs183276016
|
|
|
NM_001267550.2(TTN):c.66444T>A (p.Ala22148=)
|
|
|
|
NM_001267550.2(TTN):c.66453G>C (p.Arg22151=)
|
|
|
|
NM_001267550.2(TTN):c.6645T>C (p.His2215=)
|
|
|
|
NM_001267550.2(TTN):c.66460C>T (p.Gln22154Ter)
|
|
|
|
NM_001267550.2(TTN):c.66463+11A>G
|
|
|
|
NM_001267550.2(TTN):c.66463+16C>T
|
|
|
|
NM_001267550.2(TTN):c.66463+17G>C
|
rs202244470
|
|
|
NM_001267550.2(TTN):c.66463+2dup
|
rs1276825352
|
|
|
NM_001267550.2(TTN):c.66463+4dup
|
|
|
|
NM_001267550.2(TTN):c.66463+5G>A
|
|
|
|
NM_001267550.2(TTN):c.66463+5G>C
|
|
|
|
NM_001267550.2(TTN):c.66463+7G>A
|
|
|
|
NM_001267550.2(TTN):c.66464-12_66464-10del
|
rs763631224
|
|
|
NM_001267550.2(TTN):c.66464-19T>C
|
|
|
|
NM_001267550.2(TTN):c.66464-2A>G
|
rs1575921187
|
|
|
NM_001267550.2(TTN):c.66468T>C (p.Pro22156=)
|
|
|
|
NM_001267550.2(TTN):c.66492del (p.Val22165fs)
|
|
|
|
NM_001267550.2(TTN):c.66495A>G (p.Val22165=)
|
|
|
|
NM_001267550.2(TTN):c.66498T>C (p.Tyr22166=)
|
rs751453460
|
|
|
NM_001267550.2(TTN):c.66501T>C (p.Asp22167=)
|
|
|
|
NM_001267550.2(TTN):c.66510C>G (p.Arg22170=)
|
rs776844441
|
|
|
NM_001267550.2(TTN):c.66510C>T (p.Arg22170=)
|
|
|
|
NM_001267550.2(TTN):c.66519G>A (p.Val22173=)
|
rs2154177572
|
|
|
NM_001267550.2(TTN):c.66524dup (p.Ser22176fs)
|
|
|
|
NM_001267550.2(TTN):c.66528T>C (p.Ser22176=)
|
rs1553626322
|
|
|
NM_001267550.2(TTN):c.66528T>G (p.Ser22176=)
|
rs1553626322
|
|
|
NM_001267550.2(TTN):c.66561T>C (p.Pro22187=)
|
rs1553626182
|
|
|
NM_001267550.2(TTN):c.66564C>T (p.Ile22188=)
|
rs1060503940
|
|
|
NM_001267550.2(TTN):c.66576C>A (p.Leu22192=)
|
rs187378247
|
|
|
NM_001267550.2(TTN):c.66576dup (p.Val22193fs)
|
rs2154177519
|
|
|
NM_001267550.2(TTN):c.66578T>C (p.Val22193Ala)
|
rs775454536
|
|
|
NM_001267550.2(TTN):c.66606C>T (p.Asn22202=)
|
rs1224096976
|
|
|
NM_001267550.2(TTN):c.6660C>T (p.Tyr2220=)
|
rs72647880
|
|
|
NM_001267550.2(TTN):c.66613A>C (p.Arg22205=)
|
rs2154177476
|
|
|
NM_001267550.2(TTN):c.66615G>A (p.Arg22205=)
|
|
|
|
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter)
|
rs397517664
|
|
|
NM_001267550.2(TTN):c.66624A>G (p.Leu22208=)
|
rs2047769242
|
|
|
NM_001267550.2(TTN):c.66628C>T (p.Gln22210Ter)
|
rs757047748
|
|
|
NM_001267550.2(TTN):c.66633T>C (p.Asn22211=)
|
|
|
|
NM_001267550.2(TTN):c.66637C>T (p.Gln22213Ter)
|
|
|
|
NM_001267550.2(TTN):c.6663G>A (p.Arg2221=)
|
rs2154345485
|
|
|
NM_001267550.2(TTN):c.66645C>T (p.Thr22215=)
|
|
|
|
NM_001267550.2(TTN):c.66678A>G (p.Thr22226=)
|
|
|
|
NM_001267550.2(TTN):c.66682dup (p.Tyr22228fs)
|
rs2154177424
|
|
|
NM_001267550.2(TTN):c.66693T>C (p.Arg22231=)
|
|
|
|
NM_001267550.2(TTN):c.66699T>C (p.Tyr22233=)
|
|
|
|
NM_001267550.2(TTN):c.66702C>A (p.Ala22234=)
|
|
|
|
NM_001267550.2(TTN):c.66708T>C (p.Asn22236=)
|
|
|
|
NM_001267550.2(TTN):c.66710del (p.Lys22237fs)
|
rs1060500479
|
|
|
NM_001267550.2(TTN):c.66720C>T (p.Tyr22240=)
|
rs2154177399
|
|
|
NM_001267550.2(TTN):c.66726C>T (p.Asp22242=)
|
rs879057314
|
|
|
NM_001267550.2(TTN):c.66738G>A (p.Val22246=)
|
|
|
|
NM_001267550.2(TTN):c.66756C>T (p.Pro22252=)
|
|
|
|
NM_001267550.2(TTN):c.6675C>G (p.Asp2225Glu)
|
rs1002616301
|
|
|
NM_001267550.2(TTN):c.66762C>T (p.Asp22254=)
|
rs1178308561
|
|
|
NM_001267550.2(TTN):c.66769+13del
|
|
|
|
NM_001267550.2(TTN):c.66769+2T>A
|
rs1060500483
|
|
|
NM_001267550.2(TTN):c.66769+4_66769+7del
|
rs727504189
|
|
|
NM_001267550.2(TTN):c.66769+5G>A
|
|
|
|
NM_001267550.2(TTN):c.66769+7A>G
|
rs2154177362
|
|
|
NM_001267550.2(TTN):c.66770-13C>T
|
|
|
|
NM_001267550.2(TTN):c.66770-2A>C
|
rs1553624468
|
|
|
NM_001267550.2(TTN):c.66771T>C (p.Ile22257=)
|
|
|
|
NM_001267550.2(TTN):c.66776del (p.Pro22259fs)
|
|
|
|
NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs)
|
rs397517698
|
|
|
NM_001267550.2(TTN):c.66792T>C (p.Asp22264=)
|
rs1575895118
|
|
|
NM_001267550.2(TTN):c.66793dup (p.Ala22265fs)
|
rs2047469522
|
|
|
NM_001267550.2(TTN):c.66800T>A (p.Leu22267Ter)
|
|
|
|
NM_001267550.2(TTN):c.66807G>A (p.Lys22269=)
|
|
|
|
NM_001267550.2(TTN):c.66810A>C (p.Thr22270=)
|
rs574823514
|
|
|
NM_001267550.2(TTN):c.66816_66817del (p.Leu22273fs)
|
rs2154176484
|
|
|
NM_001267550.2(TTN):c.66817T>C (p.Leu22273=)
|
rs1031785054
|
|
|
NM_001267550.2(TTN):c.66822T>A (p.Arg22274=)
|
|
|
|
NM_001267550.2(TTN):c.66834T>C (p.Thr22278=)
|
rs747287135
|
|
|
NM_001267550.2(TTN):c.66841C>T (p.Leu22281=)
|
rs1160883088
|
|
|
NM_001267550.2(TTN):c.66846T>G (p.Tyr22282Ter)
|
|
|
|
NM_001267550.2(TTN):c.66858dup (p.Gly22287fs)
|
|
|
|
NM_001267550.2(TTN):c.66867A>G (p.Pro22289=)
|
|
|
|
NM_001267550.2(TTN):c.6687C>T (p.His2229=)
|
rs1574639027
|
|
|
NM_001267550.2(TTN):c.66885G>A (p.Trp22295Ter)
|
|
|
|
NM_001267550.2(TTN):c.6688T>C (p.Phe2230Leu)
|
rs1060500424
|
|
|
NM_001267550.2(TTN):c.669+14C>T
|
|
|
|
NM_001267550.2(TTN):c.669+17T>C
|
|
|
|
NM_001267550.2(TTN):c.669+1G>T
|
|
|
|
NM_001267550.2(TTN):c.669+2T>C
|
|
|
|
NM_001267550.2(TTN):c.669+3A>G
|
|
|
|
NM_001267550.2(TTN):c.669+4dup
|
rs1223834445
|
|
|
NM_001267550.2(TTN):c.66900C>T (p.Val22300=)
|
|
|
|
NM_001267550.2(TTN):c.66910_66911del (p.Asp22304fs)
|
|
|
|
NM_001267550.2(TTN):c.66918T>A (p.Ile22306=)
|
|
|
|
NM_001267550.2(TTN):c.66921A>G (p.Gly22307=)
|
|
|
|
NM_001267550.2(TTN):c.66926A>T (p.Asp22309Val)
|
rs1481781346
|
|
|
NM_001267550.2(TTN):c.66931_66932del (p.Lys22311fs)
|
rs2154176398
|
|
|
NM_001267550.2(TTN):c.66937del (p.Thr22313fs)
|
|
|
|
NM_001267550.2(TTN):c.66941_66944dup (p.Phe22315fs)
|
rs2047435382
|
|
|
NM_001267550.2(TTN):c.66957G>A (p.Leu22319=)
|
rs1060503928
|
|
|
NM_001267550.2(TTN):c.66968del (p.Asn22323fs)
|
rs2154176360
|
|
|
NM_001267550.2(TTN):c.66981T>C (p.Tyr22327=)
|
|
|
|
NM_001267550.2(TTN):c.66981T>G (p.Tyr22327Ter)
|
rs2047426908
|
|
|
NM_001267550.2(TTN):c.66984T>C (p.Asp22328=)
|
rs778439748
|
|
|
NM_001267550.2(TTN):c.66985dup (p.Ala22329fs)
|
|
|
|
NM_001267550.2(TTN):c.66987A>C (p.Ala22329=)
|
|
|
|
NM_001267550.2(TTN):c.66990A>C (p.Gly22330=)
|
rs756485222
|
|
|
NM_001267550.2(TTN):c.66del (p.Ala23fs)
|
|
|
|
NM_001267550.2(TTN):c.670-10T>A
|
|
|
|
NM_001267550.2(TTN):c.670-14T>G
|
|
|
|
NM_001267550.2(TTN):c.670-17G>A
|
|
|
|
NM_001267550.2(TTN):c.670-1G>A
|
rs1054895701
|
|
|
NM_001267550.2(TTN):c.67008G>A (p.Leu22336=)
|
|
|
|
NM_001267550.2(TTN):c.6700C>T (p.Leu2234=)
|
rs766750289
|
|
|
NM_001267550.2(TTN):c.67035T>C (p.Tyr22345=)
|
rs2154176287
|
|
|
NM_001267550.2(TTN):c.67053G>A (p.Val22351=)
|
rs886038717
|
|
|
NM_001267550.2(TTN):c.67057+15A>C
|
rs543264841
|
|
|
NM_001267550.2(TTN):c.67057+19A>G
|
|
|
|
NM_001267550.2(TTN):c.67057+19dup
|
|
|
|
NM_001267550.2(TTN):c.67057+1G>A
|
|
|
|
NM_001267550.2(TTN):c.67057+3A>C
|
|
|
|
NM_001267550.2(TTN):c.67058-16_67058-15delinsAA
|
|
|
|
NM_001267550.2(TTN):c.67058-19T>C
|
|
|
|
NM_001267550.2(TTN):c.67058-1G>A
|
|
|
|
NM_001267550.2(TTN):c.6705C>T (p.Thr2235=)
|
|
|
|
NM_001267550.2(TTN):c.67062T>C (p.Thr22354=)
|
rs1553623646
|
|
|
NM_001267550.2(TTN):c.67070_67071insTGTGACTGTATCCAGATAC (p.Pro22358fs)
|
rs2047381754
|
|
|
NM_001267550.2(TTN):c.67070del (p.Pro22357fs)
|
|
|
|
NM_001267550.2(TTN):c.67081dup (p.Val22361fs)
|
rs2047380262
|
|
|
NM_001267550.2(TTN):c.67109_67110del (p.Ser22370fs)
|
|
|
|
NM_001267550.2(TTN):c.67110T>C (p.Ser22370=)
|
rs1288931485
|
|
|
NM_001267550.2(TTN):c.67113T>A (p.Ala22371=)
|
|
|
|
NM_001267550.2(TTN):c.67115_67116del (p.Tyr22372fs)
|
rs2154176111
|
|
|
NM_001267550.2(TTN):c.67116T>C (p.Tyr22372=)
|
|
|
|
NM_001267550.2(TTN):c.6712dup (p.Thr2238fs)
|
rs2092039557
|
|
|
NM_001267550.2(TTN):c.67134C>G (p.Pro22378=)
|
rs2154176100
|
|
|
NM_001267550.2(TTN):c.6713C>G (p.Thr2238Arg)
|
rs201284459
|
|
|
NM_001267550.2(TTN):c.6714G>T (p.Thr2238=)
|
rs774836314
|
|
|
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs)
|
rs1476017129
|
|
|
NM_001267550.2(TTN):c.67167T>C (p.Tyr22389=)
|
|
|
|
NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter)
|
rs2154176072
|
|
|
NM_001267550.2(TTN):c.67191del (p.Arg22398fs)
|
|
|
|
NM_001267550.2(TTN):c.67195A>G (p.Lys22399Glu)
|
rs1060500421
|
|
|
NM_001267550.2(TTN):c.6720T>C (p.Asp2240=)
|
rs149404931
|
|
|
NM_001267550.2(TTN):c.67224C>T (p.Cys22408=)
|
|
|
|
NM_001267550.2(TTN):c.67229A>C (p.Lys22410Thr)
|
rs1559493839
|
|
|
NM_001267550.2(TTN):c.6723T>C (p.Ala2241=)
|
|
|
|
NM_001267550.2(TTN):c.67266A>G (p.Lys22422=)
|
|
|
|
NM_001267550.2(TTN):c.67266dup (p.Ser22423fs)
|
rs2154175989
|
|
|
NM_001267550.2(TTN):c.67272C>T (p.Tyr22424=)
|
|
|
|
NM_001267550.2(TTN):c.67278C>T (p.Phe22426=)
|
rs1575882077
|
|
|
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter)
|
rs1200988060
|
|
|
NM_001267550.2(TTN):c.67279del (p.Arg22427fs)
|
rs2154175979
|
|
|
NM_001267550.2(TTN):c.67297G>T (p.Glu22433Ter)
|
|
|
|
NM_001267550.2(TTN):c.67302T>C (p.Tyr22434=)
|
|
|
|
NM_001267550.2(TTN):c.67348+15C>T
|
|
|
|
NM_001267550.2(TTN):c.67348+19A>G
|
|
|
|
NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter)
|
rs1403485272
|
|
|
NM_001267550.2(TTN):c.67349-11C>T
|
|
|
|
NM_001267550.2(TTN):c.67349-18A>G
|
|
|
|
NM_001267550.2(TTN):c.67349-18A>T
|
|
|
|
NM_001267550.2(TTN):c.67349-20T>C
|
|
|
|
NM_001267550.2(TTN):c.67359A>G (p.Gly22453=)
|
|
|
|
NM_001267550.2(TTN):c.67397C>A (p.Ser22466Ter)
|
rs2047280731
|
|
|
NM_001267550.2(TTN):c.6741A>G (p.Val2247=)
|
rs2154345429
|
|
|
NM_001267550.2(TTN):c.67421del (p.Lys22474fs)
|
rs794729332
|
|
|
NM_001267550.2(TTN):c.67446G>A (p.Arg22482=)
|
rs2154175758
|
|
|
NM_001267550.2(TTN):c.67446del (p.Ile22483fs)
|
rs2154175760
|
|
|
NM_001267550.2(TTN):c.67458T>C (p.Tyr22486=)
|
|
|
|
NM_001267550.2(TTN):c.67485T>C (p.Asn22495=)
|
rs2154175738
|
|
|
NM_001267550.2(TTN):c.67488G>A (p.Lys22496=)
|
rs2154175733
|
|
|
NM_001267550.2(TTN):c.67490G>A (p.Trp22497Ter)
|
|
|
|
NM_001267550.2(TTN):c.67495C>A (p.Arg22499=)
|
|
|
|
NM_001267550.2(TTN):c.6750A>G (p.Glu2250=)
|
|
|
|
NM_001267550.2(TTN):c.67541_67542delinsTG (p.Thr22514Met)
|
rs1553622336
|
|
|
NM_001267550.2(TTN):c.67548G>A (p.Gly22516=)
|
rs1437157451
|
|
|
NM_001267550.2(TTN):c.67555del (p.Tyr22519fs)
|
rs2154175699
|
|
|
NM_001267550.2(TTN):c.67556_67559dup (p.Phe22521fs)
|
rs2154175692
|
|
|
NM_001267550.2(TTN):c.67557T>C (p.Tyr22519=)
|
|
|
|
NM_001267550.2(TTN):c.67575T>A (p.Ala22525=)
|
|
|
|
NM_001267550.2(TTN):c.67575T>G (p.Ala22525=)
|
rs755060136
|
|
|
NM_001267550.2(TTN):c.67576G>T (p.Glu22526Ter)
|
rs2047236705
|
|
|
NM_001267550.2(TTN):c.67587T>C (p.Asn22529=)
|
rs1057523544
|
|
|
NM_001267550.2(TTN):c.67590_67591insCTCCATGGGCTCTTCTCTTGCTTTGAAAACTCCCCCTTTTCCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTACCCCTCCCCCTCCCCCTCTCCCTCTNNNNNNNNNNAAAAACAAAAAAAAAAAAAAGAATGAAAATGGA (p.Glu22531fs)
|
rs2154175675
|
|
|
NM_001267550.2(TTN):c.67605C>T (p.Ser22535=)
|
rs750847940
|
|
|
NM_001267550.2(TTN):c.67614T>C (p.Thr22538=)
|
rs1180310461
|
|
|
NM_001267550.2(TTN):c.67616T>C (p.Val22539Ala)
|
rs1553622176
|
|
|
NM_001267550.2(TTN):c.67620G>A (p.Val22540=)
|
|
|
|
NM_001267550.2(TTN):c.67636+12T>C
|
|
|
|
NM_001267550.2(TTN):c.67636+12T>G
|
|
|
|
NM_001267550.2(TTN):c.67636+17A>C
|
|
|
|
NM_001267550.2(TTN):c.67636+19A>G
|
|
|
|
NM_001267550.2(TTN):c.67636+2_67636+3insC
|
rs2047225762
|
|
|
NM_001267550.2(TTN):c.67636G>A (p.Val22546Met)
|
rs794729244
|
|
|
NM_001267550.2(TTN):c.67637-14C>G
|
|
|
|
NM_001267550.2(TTN):c.67637-19del
|
|
|
|
NM_001267550.2(TTN):c.67637-20T>C
|
|
|
|
NM_001267550.2(TTN):c.67637-8T>C
|
|
|
|
NM_001267550.2(TTN):c.67653C>T (p.Asp22551=)
|
|
|
|
NM_001267550.2(TTN):c.67655T>G (p.Leu22552Ter)
|
|
|
|
NM_001267550.2(TTN):c.67665A>G (p.Leu22555=)
|
|
|
|
NM_001267550.2(TTN):c.6768G>A (p.Thr2256=)
|
rs886055302
|
|
|
NM_001267550.2(TTN):c.67705_67706insLINE1
|
|
|
|
NM_001267550.2(TTN):c.67707G>C (p.Arg22569=)
|
|
|
|
NM_001267550.2(TTN):c.67716C>A (p.Ile22572=)
|
rs754283751
|
|
|
NM_001267550.2(TTN):c.67716C>T (p.Ile22572=)
|
rs754283751
|
|
|
NM_001267550.2(TTN):c.6771T>C (p.Thr2257=)
|
rs1351771674
|
|
|
NM_001267550.2(TTN):c.67750del (p.Trp22584fs)
|
|
|
|
NM_001267550.2(TTN):c.67762del (p.Glu22588fs)
|
rs2154175340
|
|
|
NM_001267550.2(TTN):c.67782C>T (p.Asp22594=)
|
rs1575865334
|
|
|
NM_001267550.2(TTN):c.67794T>C (p.Ser22598=)
|
rs960274505
|
|
|
NM_001267550.2(TTN):c.67794del (p.Ser22598fs)
|
|
|
|
NM_001267550.2(TTN):c.67800G>A (p.Glu22600=)
|
|
|
|
NM_001267550.2(TTN):c.67804T>C (p.Ser22602Pro)
|
rs780276317
|
|
|
NM_001267550.2(TTN):c.67817C>T (p.Thr22606Ile)
|
rs1254285646
|
|
|
NM_001267550.2(TTN):c.67833C>G (p.Tyr22611Ter)
|
|
|
|
NM_001267550.2(TTN):c.67836T>C (p.Asp22612=)
|
rs1375493430
|
|
|
NM_001267550.2(TTN):c.67839C>T (p.Cys22613=)
|
rs2154175290
|
|
|
NM_001267550.2(TTN):c.67840C>T (p.Gln22614Ter)
|
rs2154175288
|
|
|
NM_001267550.2(TTN):c.67854T>C (p.Ala22618=)
|
|
|
|
NM_001267550.2(TTN):c.67866A>C (p.Thr22622=)
|
rs1559485882
|
|
|
NM_001267550.2(TTN):c.67887T>G (p.Ala22629=)
|
rs2154175252
|
|
|
NM_001267550.2(TTN):c.67897G>T (p.Glu22633Ter)
|
rs1553621179
|
|
|
NM_001267550.2(TTN):c.6790+14A>G
|
|
|
|
NM_001267550.2(TTN):c.6790+15A>G
|
|
|
|
NM_001267550.2(TTN):c.6790+17G>A
|
|
|
|
NM_001267550.2(TTN):c.6790+1G>T
|
|
|
|
NM_001267550.2(TTN):c.67900_67901del (p.Gly22634fs)
|
|
|
|
NM_001267550.2(TTN):c.67901_67904dup (p.Ile22636fs)
|
|
|
|
NM_001267550.2(TTN):c.67905T>G (p.Thr22635=)
|
rs2154175245
|
|
|
NM_001267550.2(TTN):c.67906_67909dup (p.Ser22637fs)
|
|
|
|
NM_001267550.2(TTN):c.6791-6C>T
|
|
|
|
NM_001267550.2(TTN):c.67918G>A (p.Val22640Ile)
|
rs750093105
|
|
|
NM_001267550.2(TTN):c.67919T>C (p.Val22640Ala)
|
rs1060500506
|
|
|
NM_001267550.2(TTN):c.67932T>A (p.Pro22644=)
|
rs2154175212
|
|
|
NM_001267550.2(TTN):c.67962T>C (p.Asp22654=)
|
rs779729130
|
|
|
NM_001267550.2(TTN):c.67965A>G (p.Glu22655=)
|
rs2154175172
|
|
|
NM_001267550.2(TTN):c.67971A>G (p.Thr22657=)
|
rs2154175166
|
|
|
NM_001267550.2(TTN):c.67977A>G (p.Glu22659=)
|
|
|
|
NM_001267550.2(TTN):c.67980C>G (p.Ala22660=)
|
rs756764696
|
|
|
NM_001267550.2(TTN):c.67994G>A (p.Trp22665Ter)
|
|
|
|
NM_001267550.2(TTN):c.68022dup (p.Glu22675Ter)
|
|
|
|
NM_001267550.2(TTN):c.68034C>T (p.Asn22678=)
|
rs1553620816
|
|
|
NM_001267550.2(TTN):c.68043A>G (p.Leu22681=)
|
|
|
|
NM_001267550.2(TTN):c.68061G>C (p.Val22687=)
|
|
|
|
NM_001267550.2(TTN):c.68066A>G (p.Asn22689Ser)
|
rs375397094
|
|
|
NM_001267550.2(TTN):c.68091T>C (p.Ala22697=)
|
|
|
|
NM_001267550.2(TTN):c.68108_68109del (p.Thr22702_Phe22703insTer)
|
rs2154175051
|
|
|
NM_001267550.2(TTN):c.68163A>G (p.Glu22721=)
|
|
|
|
NM_001267550.2(TTN):c.68169A>G (p.Lys22723=)
|
|
|
|
NM_001267550.2(TTN):c.6816A>T (p.Glu2272Asp)
|
rs1554002953
|
|
|
NM_001267550.2(TTN):c.68172T>C (p.Tyr22724=)
|
|
|
|
NM_001267550.2(TTN):c.68176G>A (p.Val22726Ile)
|
rs1553620392
|
|
|
NM_001267550.2(TTN):c.68197G>T (p.Glu22733Ter)
|
|
|
|
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter)
|
rs145649088
|
|
|
NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser)
|
rs886039082
|
|
|
NM_001267550.2(TTN):c.68220A>G (p.Pro22740=)
|
|
|
|
NM_001267550.2(TTN):c.68224+12A>G
|
|
|
|
NM_001267550.2(TTN):c.68224+1G>A
|
rs754250350
|
|
|
NM_001267550.2(TTN):c.68224+3_68224+6del
|
|
|
|
NM_001267550.2(TTN):c.68225-10T>C
|
rs1378546349
|
|
|
NM_001267550.2(TTN):c.68225-12A>G
|
|
|
|
NM_001267550.2(TTN):c.68225-15T>C
|
|
|
|
NM_001267550.2(TTN):c.68225-18T>C
|
rs1416277306
|
|
|
NM_001267550.2(TTN):c.68225-1G>A
|
|
|
|
NM_001267550.2(TTN):c.68225-6T>A
|
|
|
|
NM_001267550.2(TTN):c.68225-8T>C
|
|
|
|
NM_001267550.2(TTN):c.68229G>C (p.Val22743=)
|
|
|
|
NM_001267550.2(TTN):c.68229G>T (p.Val22743=)
|
|
|
|
NM_001267550.2(TTN):c.68230C>A (p.Pro22744Thr)
|
|
|
|
NM_001267550.2(TTN):c.68232T>C (p.Pro22744=)
|
|
|
|
NM_001267550.2(TTN):c.68235T>C (p.Asp22745=)
|
rs757244505
|
|
|
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs)
|
rs1085307600
|
|
|
NM_001267550.2(TTN):c.6825del (p.Asp2275fs)
|
rs2091959062
|
|
|
NM_001267550.2(TTN):c.68262T>C (p.Asp22754=)
|
rs2047008596
|
|
|
NM_001267550.2(TTN):c.68262_68266del (p.Asp22754fs)
|
|
|
|
NM_001267550.2(TTN):c.68266A>C (p.Arg22756=)
|
rs2154174824
|
|
|
NM_001267550.2(TTN):c.68269del (p.His22757fs)
|
rs2154174822
|
|
|
NM_001267550.2(TTN):c.68271C>T (p.His22757=)
|
rs750271244
|
|
|
NM_001267550.2(TTN):c.68286_68289dup (p.Trp22764fs)
|
rs2154174801
|
|
|
NM_001267550.2(TTN):c.68308del (p.Thr22770fs)
|
rs1064796112
|
|
|
NM_001267550.2(TTN):c.68310T>C (p.Thr22770=)
|
|
|
|
NM_001267550.2(TTN):c.68325dup (p.Thr22776fs)
|
rs1575853060
|
|
|
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=)
|
rs1553619783
|
|
|
NM_001267550.2(TTN):c.68329+11T>A
|
|
|
|
NM_001267550.2(TTN):c.68329+2_68329+3insTT
|
rs536078303
|
|
|
NM_001267550.2(TTN):c.68329+8G>T
|
rs1026061408
|
|
|
NM_001267550.2(TTN):c.68329G>C (p.Gly22777Arg)
|
rs2154174748
|
|
|
NM_001267550.2(TTN):c.68330-11del
|
rs1004563596
|
|
|
NM_001267550.2(TTN):c.68330-26_68330-20del
|
|
|
|
NM_001267550.2(TTN):c.68330-5del
|
rs1553619103
|
|
|
NM_001267550.2(TTN):c.68336_68340dup (p.Glu22781fs)
|
|
|
|
NM_001267550.2(TTN):c.68343G>A (p.Glu22781=)
|
rs2154174325
|
|
|
NM_001267550.2(TTN):c.68349G>A (p.Lys22783=)
|
rs2154174322
|
|
|
NM_001267550.2(TTN):c.68349_68356del (p.Glu22784fs)
|
rs2154174313
|
|
|
NM_001267550.2(TTN):c.6834T>A (p.Val2278=)
|
rs2154345150
|
|
|
NM_001267550.2(TTN):c.68364T>G (p.Leu22788=)
|
rs1186888314
|
|
|
NM_001267550.2(TTN):c.68365T>C (p.Leu22789=)
|
rs933098534
|
|
|
NM_001267550.2(TTN):c.68379T>C (p.Ala22793=)
|
rs727503574
|
|
|
NM_001267550.2(TTN):c.68385G>A (p.Lys22795=)
|
rs2154174301
|
|
|
NM_001267550.2(TTN):c.68394A>T (p.Ile22798=)
|
rs2046857327
|
|
|
NM_001267550.2(TTN):c.68409T>C (p.Phe22803=)
|
|
|
|
NM_001267550.2(TTN):c.68410_68411insTCGGTTA (p.Lys22804delinsIleGlyTer)
|
rs2154174273
|
|
|
NM_001267550.2(TTN):c.68418A>G (p.Thr22806=)
|
rs2154174268
|
|
|
NM_001267550.2(TTN):c.68427del (p.Glu22810fs)
|
|
|
|
NM_001267550.2(TTN):c.68432G>T (p.Gly22811Val)
|
rs78806155
|
|
|
NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter)
|
rs200797552
|
|
|
NM_001267550.2(TTN):c.6843A>G (p.Ser2281=)
|
|
|
|
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)
|
rs371678190
|
|
|
NM_001267550.2(TTN):c.68463_68466dup (p.Leu22823fs)
|
|
|
|
NM_001267550.2(TTN):c.6846T>A (p.Tyr2282Ter)
|
|
|
|
NM_001267550.2(TTN):c.6846T>C (p.Tyr2282=)
|
|
|
|
NM_001267550.2(TTN):c.68475T>C (p.Gly22825=)
|
|
|
|
NM_001267550.2(TTN):c.68508dup (p.Val22837fs)
|
rs1064793845
|
|
|
NM_001267550.2(TTN):c.68520C>T (p.Asp22840=)
|
|
|
|
NM_001267550.2(TTN):c.68527+10T>C
|
|
|
|
NM_001267550.2(TTN):c.68527+10_68527+12del
|
rs762941263
|
|
|
NM_001267550.2(TTN):c.68527+11A>G
|
|
|
|
NM_001267550.2(TTN):c.68527+9T>C
|
rs1243700242
|
|
|
NM_001267550.2(TTN):c.68527G>C (p.Asp22843His)
|
|
|
|
NM_001267550.2(TTN):c.68528-14C>G
|
|
|
|
NM_001267550.2(TTN):c.68547G>A (p.Glu22849=)
|
|
|
|
NM_001267550.2(TTN):c.68568T>C (p.Asn22856=)
|
|
|
|
NM_001267550.2(TTN):c.68575_68576dup (p.Ile22861fs)
|
|
|
|
NM_001267550.2(TTN):c.6857del (p.Glu2285_Leu2286insTer)
|
rs2154345136
|
|
|
NM_001267550.2(TTN):c.6858A>G (p.Leu2286=)
|
rs141920643
|
|
|
NM_001267550.2(TTN):c.68595T>C (p.Pro22865=)
|
|
|
|
NM_001267550.2(TTN):c.68601T>C (p.Tyr22867=)
|
|
|
|
NM_001267550.2(TTN):c.68604C>T (p.Asp22868=)
|
rs750368181
|
|
|
NM_001267550.2(TTN):c.68606del (p.Gly22869fs)
|
|
|
|
NM_001267550.2(TTN):c.68616G>A (p.Lys22872=)
|
rs759830525
|
|
|
NM_001267550.2(TTN):c.68631A>C (p.Ile22877=)
|
rs776873491
|
|
|
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter)
|
rs1213930919
|
|
|
NM_001267550.2(TTN):c.68654dup (p.Lys22886fs)
|
rs2154174012
|
|
|
NM_001267550.2(TTN):c.68655G>A (p.Ser22885=)
|
|
|
|
NM_001267550.2(TTN):c.68663G>A (p.Trp22888Ter)
|
rs2154174003
|
|
|
NM_001267550.2(TTN):c.68664G>A (p.Trp22888Ter)
|
rs2046761831
|
|
|
NM_001267550.2(TTN):c.68676C>T (p.Asn22892=)
|
|
|
|
NM_001267550.2(TTN):c.68679T>C (p.His22893=)
|
rs542813165
|
|
|
NM_001267550.2(TTN):c.68682T>G (p.Val22894=)
|
rs1304622611
|
|
|
NM_001267550.2(TTN):c.6870A>C (p.Val2290=)
|
rs143578117
|
|
|
NM_001267550.2(TTN):c.6870A>G (p.Val2290=)
|
rs143578117
|
|
|
NM_001267550.2(TTN):c.6870A>T (p.Val2290=)
|
|
|
|
NM_001267550.2(TTN):c.68759del (p.Asn22920fs)
|
|
|
|
NM_001267550.2(TTN):c.68760T>C (p.Asn22920=)
|
|
|
|
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile)
|
rs534567766
|
|
|
NM_001267550.2(TTN):c.68768del (p.Gly22923fs)
|
|
|
|
NM_001267550.2(TTN):c.68784A>G (p.Pro22928=)
|
rs2154173941
|
|
|
NM_001267550.2(TTN):c.68787A>G (p.Ser22929=)
|
rs2154173938
|
|
|
NM_001267550.2(TTN):c.68800del (p.Thr22934fs)
|
|
|
|
NM_001267550.2(TTN):c.68807_68810dup (p.Lys22938fs)
|
rs2046739414
|
|
|
NM_001267550.2(TTN):c.68824+13T>G
|
|
|
|
NM_001267550.2(TTN):c.68824+17T>C
|
|
|
|
NM_001267550.2(TTN):c.68824+1del
|
|
|
|
NM_001267550.2(TTN):c.68824+3A>G
|
|
|
|
NM_001267550.2(TTN):c.68824+9A>G
|
rs746586991
|
|
|
NM_001267550.2(TTN):c.68825-15T>A
|
|
|
|
NM_001267550.2(TTN):c.68825-18G>A
|
rs755948095
|
|
|
NM_001267550.2(TTN):c.68825-9T>C
|
rs373981349
|
|
|
NM_001267550.2(TTN):c.68825-9dup
|
|
|
|
NM_001267550.2(TTN):c.68829A>G (p.Ala22943=)
|
rs1313425866
|
|
|
NM_001267550.2(TTN):c.68854del (p.Thr22951_Ile22952insTer)
|
|
|
|
NM_001267550.2(TTN):c.68859_68862dup (p.Gly22955fs)
|
rs2154173774
|
|
|
NM_001267550.2(TTN):c.68865G>A (p.Gly22955=)
|
rs990873945
|
|
|
NM_001267550.2(TTN):c.68871A>G (p.Thr22957=)
|
rs2046683424
|
|
|
NM_001267550.2(TTN):c.68875A>T (p.Lys22959Ter)
|
rs2154173767
|
|
|
NM_001267550.2(TTN):c.68876_68883del (p.Lys22959fs)
|
rs1575832346
|
|
|
NM_001267550.2(TTN):c.68886T>C (p.Asp22962=)
|
|
|
|
NM_001267550.2(TTN):c.68896T>C (p.Leu22966=)
|
|
|
|
NM_001267550.2(TTN):c.68921A>G (p.Lys22974Arg)
|
rs1559471235
|
|
|
NM_001267550.2(TTN):c.68925C>A (p.Pro22975=)
|
|
|
|
NM_001267550.2(TTN):c.68928T>C (p.Leu22976=)
|
|
|
|
NM_001267550.2(TTN):c.68934dup (p.Ser22979fs)
|
|
|
|
NM_001267550.2(TTN):c.68936C>A (p.Ser22979Ter)
|
rs2154173745
|
|
|
NM_001267550.2(TTN):c.68941del (p.Trp22981fs)
|
rs1575831755
|
|
|
NM_001267550.2(TTN):c.68943G>A (p.Trp22981Ter)
|
rs1553617378
|
|
|
NM_001267550.2(TTN):c.68946C>G (p.Ser22982=)
|
|
|
|
NM_001267550.2(TTN):c.6894A>G (p.Lys2298=)
|
|
|
|
NM_001267550.2(TTN):c.68964T>C (p.Ile22988=)
|
rs777786229
|
|
|
NM_001267550.2(TTN):c.68965A>C (p.Arg22989=)
|
rs2046669348
|
|
|
NM_001267550.2(TTN):c.68970A>G (p.Pro22990=)
|
|
|
|
NM_001267550.2(TTN):c.68990C>A (p.Thr22997Asn)
|
rs886043272
|
|
|
NM_001267550.2(TTN):c.68992del (p.Ser22998fs)
|
|
|
|
NM_001267550.2(TTN):c.68995del (p.Thr22999fs)
|
rs1064796389
|
|
|
NM_001267550.2(TTN):c.69003A>C (p.Thr23001=)
|
|
|
|
NM_001267550.2(TTN):c.6900T>C (p.Tyr2300=)
|
|
|
|
NM_001267550.2(TTN):c.69030C>A (p.Ala23010=)
|
|
|
|
NM_001267550.2(TTN):c.69066T>G (p.Ala23022=)
|
|
|
|
NM_001267550.2(TTN):c.69078T>C (p.Phe23026=)
|
|
|
|
NM_001267550.2(TTN):c.69084G>T (p.Thr23028=)
|
|
|
|
NM_001267550.2(TTN):c.69096T>C (p.His23032=)
|
rs1374973500
|
|
|
NM_001267550.2(TTN):c.69104dup (p.Thr23036fs)
|
rs1559469421
|
|
|
NM_001267550.2(TTN):c.69105_69108dup (p.Val23037fs)
|
|
|
|
NM_001267550.2(TTN):c.69123T>C (p.Pro23041=)
|
|
|
|
NM_001267550.2(TTN):c.69131del (p.Pro23044fs)
|
rs2154173603
|
|
|
NM_001267550.2(TTN):c.69132A>G (p.Pro23044=)
|
rs2046624348
|
|
|
NM_001267550.2(TTN):c.69138T>C (p.Pro23046=)
|
|
|
|
NM_001267550.2(TTN):c.69141T>C (p.Val23047=)
|
rs2154173590
|
|
|
NM_001267550.2(TTN):c.69144A>G (p.Glu23048=)
|
rs786205342
|
|
|
NM_001267550.2(TTN):c.69159T>C (p.Ser23053=)
|
rs1437579883
|
|
|
NM_001267550.2(TTN):c.6915G>A (p.Glu2305=)
|
|
|
|
NM_001267550.2(TTN):c.69172A>T (p.Thr23058Ser)
|
rs752304059
|
|
|
NM_001267550.2(TTN):c.69174A>T (p.Thr23058=)
|
rs909042357
|
|
|
NM_001267550.2(TTN):c.69186_69187del (p.Pro23063fs)
|
|
|
|
NM_001267550.2(TTN):c.69192C>T (p.Pro23064=)
|
rs1315369963
|
|
|
NM_001267550.2(TTN):c.691G>A (p.Ala231Thr)
|
rs752452129
|
|
|
NM_001267550.2(TTN):c.69201T>C (p.Asp23067=)
|
|
|
|
NM_001267550.2(TTN):c.69204C>T (p.Gly23068=)
|
rs188919648
|
|
|
NM_001267550.2(TTN):c.69207C>A (p.Gly23069=)
|
|
|
|
NM_001267550.2(TTN):c.69212C>T (p.Pro23071Leu)
|
rs367664195
|
|
|
NM_001267550.2(TTN):c.69213A>T (p.Pro23071=)
|
|
|
|
NM_001267550.2(TTN):c.69214del (p.Ile23072fs)
|
|
|
|
NM_001267550.2(TTN):c.69222C>A (p.Ser23074=)
|
rs753154331
|
|
|
NM_001267550.2(TTN):c.69225T>C (p.Tyr23075=)
|
|
|
|
NM_001267550.2(TTN):c.69234_69238del (p.Lys23079fs)
|
rs2046600751
|
|
|
NM_001267550.2(TTN):c.69241_69242del (p.Glu23081fs)
|
rs1575826940
|
|
|
NM_001267550.2(TTN):c.69250C>T (p.Arg23084Ter)
|
rs794729281
|
|
|
NM_001267550.2(TTN):c.69256_69257dup (p.Leu23086fs)
|
rs1553616622
|
|
|
NM_001267550.2(TTN):c.69257del (p.Leu23086fs)
|
|
|
|
NM_001267550.2(TTN):c.69258G>A (p.Leu23086=)
|
|
|
|
NM_001267550.2(TTN):c.6927T>C (p.Asn2309=)
|
rs147580120
|
|
|
NM_001267550.2(TTN):c.69325G>T (p.Glu23109Ter)
|
|
|
|
NM_001267550.2(TTN):c.69333C>T (p.Ile23111=)
|
|
|
|
NM_001267550.2(TTN):c.69336C>T (p.Phe23112=)
|
|
|
|
NM_001267550.2(TTN):c.69339G>A (p.Arg23113=)
|
|
|
|
NM_001267550.2(TTN):c.69340del (p.Val23114fs)
|
rs2046581341
|
|
|
NM_001267550.2(TTN):c.69342C>T (p.Val23114=)
|
|
|
|
NM_001267550.2(TTN):c.69354C>T (p.Asn23118=)
|
rs2154173463
|
|
|
NM_001267550.2(TTN):c.69379C>T (p.Gln23127Ter)
|
|
|
|
NM_001267550.2(TTN):c.69387del (p.Glu23129fs)
|
rs2154173437
|
|
|
NM_001267550.2(TTN):c.69393C>G (p.Val23131=)
|
rs727504692
|
|
|
NM_001267550.2(TTN):c.69412+13T>C
|
|
|
|
NM_001267550.2(TTN):c.69412+1G>A
|
rs869312074
|
|
|
NM_001267550.2(TTN):c.69413-10T>A
|
rs1304463140
|
|
|
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs)
|
rs1247353236
|
|
|
NM_001267550.2(TTN):c.69422_69426delinsAAAAGGACCC (p.Gly23141fs)
|
rs2046539116
|
|
|
NM_001267550.2(TTN):c.69438A>G (p.Pro23146=)
|
rs369112015
|
|
|
NM_001267550.2(TTN):c.69456T>C (p.Thr23152=)
|
|
|
|
NM_001267550.2(TTN):c.69465T>G (p.Thr23155=)
|
|
|
|
NM_001267550.2(TTN):c.69479G>A (p.Trp23160Ter)
|
rs2154173285
|
|
|
NM_001267550.2(TTN):c.69491_69492del (p.Val23164fs)
|
rs869312113
|
|
|
NM_001267550.2(TTN):c.69497dup (p.Asp23166fs)
|
|
|
|
NM_001267550.2(TTN):c.69506G>T (p.Ser23169Ile)
|
rs879245080
|
|
|
NM_001267550.2(TTN):c.69513del (p.Thr23172fs)
|
|
|
|
NM_001267550.2(TTN):c.69519A>G (p.Gly23173=)
|
|
|
|
NM_001267550.2(TTN):c.69521_69525dup (p.Val23176fs)
|
rs2154173232
|
|
|
NM_001267550.2(TTN):c.69550C>T (p.Leu23184=)
|
|
|
|
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter)
|
rs878854328
|
|
|
NM_001267550.2(TTN):c.69558G>A (p.Trp23186Ter)
|
rs1575821175
|
|
|
NM_001267550.2(TTN):c.69564A>G (p.Arg23188=)
|
rs1357258606
|
|
|
NM_001267550.2(TTN):c.69571_69592dup (p.Arg23198fs)
|
rs2046499843
|
|
|
NM_001267550.2(TTN):c.69584_69585insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACACCAGTTTC (p.Ser23195_Asp23196insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.69612G>A (p.Leu23204=)
|
|
|
|
NM_001267550.2(TTN):c.69613C>T (p.Gln23205Ter)
|
|
|
|
NM_001267550.2(TTN):c.69613_69616dup (p.Glu23206fs)
|
rs2154173163
|
|
|
NM_001267550.2(TTN):c.69639T>A (p.Arg23213=)
|
|
|
|
NM_001267550.2(TTN):c.69687A>G (p.Ser23229=)
|
|
|
|
NM_001267550.2(TTN):c.69715+11_69715+14del
|
rs1300822971
|
|
|
NM_001267550.2(TTN):c.69715+5G>C
|
rs1553615539
|
|
|
NM_001267550.2(TTN):c.69715_69715+3dup
|
rs2154173093
|
|
|
NM_001267550.2(TTN):c.69716-15T>G
|
|
|
|
NM_001267550.2(TTN):c.69716-15_69716-14del
|
|
|
|
NM_001267550.2(TTN):c.69716-19G>A
|
|
|
|
NM_001267550.2(TTN):c.69716-9C>T
|
rs776930347
|
|
|
NM_001267550.2(TTN):c.69729A>T (p.Pro23243=)
|
|
|
|
NM_001267550.2(TTN):c.6972G>T (p.Thr2324=)
|
|
|
|
NM_001267550.2(TTN):c.69741G>T (p.Pro23247=)
|
rs566393354
|
|
|
NM_001267550.2(TTN):c.69748A>T (p.Thr23250Ser)
|
rs1060500455
|
|
|
NM_001267550.2(TTN):c.69759del (p.Lys23254fs)
|
|
|
|
NM_001267550.2(TTN):c.69771T>G (p.Ala23257=)
|
|
|
|
NM_001267550.2(TTN):c.69786C>T (p.Gly23262=)
|
|
|
|
NM_001267550.2(TTN):c.69804T>A (p.Gly23268=)
|
rs2154172914
|
|
|
NM_001267550.2(TTN):c.69804T>C (p.Gly23268=)
|
|
|
|
NM_001267550.2(TTN):c.69811G>T (p.Glu23271Ter)
|
rs1213132001
|
|
|
NM_001267550.2(TTN):c.6981T>C (p.Asp2327=)
|
rs397517709
|
|
|
NM_001267550.2(TTN):c.69825T>C (p.Tyr23275=)
|
rs753970015
|
|
|
NM_001267550.2(TTN):c.69828C>G (p.Val23276=)
|
|
|
|
NM_001267550.2(TTN):c.69860G>A (p.Trp23287Ter)
|
rs869067204
|
|
|
NM_001267550.2(TTN):c.69861G>A (p.Trp23287Ter)
|
|
|
|
NM_001267550.2(TTN):c.69866_69869dup (p.Asp23290fs)
|
rs2154172862
|
|
|
NM_001267550.2(TTN):c.69871del (p.Thr23291fs)
|
|
|
|
NM_001267550.2(TTN):c.69873C>T (p.Thr23291=)
|
|
|
|
NM_001267550.2(TTN):c.69876A>C (p.Thr23292=)
|
rs1267766480
|
|
|
NM_001267550.2(TTN):c.69876A>G (p.Thr23292=)
|
rs1267766480
|
|
|
NM_001267550.2(TTN):c.6987C>A (p.Thr2329=)
|
rs1319645804
|
|
|
NM_001267550.2(TTN):c.69882C>A (p.Thr23294=)
|
|
|
|
NM_001267550.2(TTN):c.69885C>T (p.Ala23295=)
|
|
|
|
NM_001267550.2(TTN):c.69888C>G (p.Leu23296=)
|
rs2154172842
|
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
|
NM_001267550.2(TTN):c.69903C>T (p.Phe23301=)
|
rs372799151
|
|
|
NM_001267550.2(TTN):c.6990G>A (p.Lys2330=)
|
|
|
|
NM_001267550.2(TTN):c.69921G>A (p.Gln23307=)
|
|
|
|
NM_001267550.2(TTN):c.69923_69926dup (p.Lys23309delinsAsnTer)
|
rs2154172827
|
|
|
NM_001267550.2(TTN):c.69937_69938insGAAAAATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Asn23313delinsArgLysIleGlnAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.69937_69938insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAAATACA (p.Tyr23312_Asn23313insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluLysTyr)
|
|
|
|
NM_001267550.2(TTN):c.69968del (p.Gly23323fs)
|
|
|
|
NM_001267550.2(TTN):c.6996C>T (p.Asp2332=)
|
|
|
|
NM_001267550.2(TTN):c.69972del (p.Glu23326fs)
|
|
|
|
NM_001267550.2(TTN):c.69984G>C (p.Ala23328=)
|
rs56052239
|
|
|
NM_001267550.2(TTN):c.69999del (p.Glu23334fs)
|
|
|
|
NM_001267550.2(TTN):c.70017G>A (p.Glu23339=)
|
|
|
|
NM_001267550.2(TTN):c.70025del (p.Pro23342fs)
|
|
|
|
NM_001267550.2(TTN):c.70026T>C (p.Pro23342=)
|
rs878983731
|
|
|
NM_001267550.2(TTN):c.70032dup (p.Glu23345Ter)
|
|
|
|
NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter)
|
rs1060500575
|
|
|
NM_001267550.2(TTN):c.70059A>G (p.Thr23353=)
|
rs1174326827
|
|
|
NM_001267550.2(TTN):c.70059A>T (p.Thr23353=)
|
rs1174326827
|
|
|
NM_001267550.2(TTN):c.7005dup (p.Tyr2336fs)
|
|
|
|
NM_001267550.2(TTN):c.70095T>C (p.Phe23365=)
|
|
|
|
NM_001267550.2(TTN):c.70101A>G (p.Pro23367=)
|
|
|
|
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro)
|
rs767208489
|
|
|
NM_001267550.2(TTN):c.70115del (p.Pro23372fs)
|
|
|
|
NM_001267550.2(TTN):c.70120C>G (p.Pro23374Ala)
|
rs1553614524
|
|
|
NM_001267550.2(TTN):c.70131A>T (p.Thr23377=)
|
rs369503828
|
|
|
NM_001267550.2(TTN):c.70133G>A (p.Trp23378Ter)
|
|
|
|
NM_001267550.2(TTN):c.70137C>A (p.Thr23379=)
|
rs770349910
|
|
|
NM_001267550.2(TTN):c.70149C>T (p.Ile23383=)
|
rs1257313569
|
|
|
NM_001267550.2(TTN):c.70153C>G (p.Leu23385Val)
|
rs769672151
|
|
|
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)
|
rs781540455
|
|
|
NM_001267550.2(TTN):c.70164A>C (p.Arg23388=)
|
|
|
|
NM_001267550.2(TTN):c.70179T>C (p.Asn23393=)
|
|
|
|
NM_001267550.2(TTN):c.70200G>C (p.Leu23400=)
|
rs765776189
|
|
|
NM_001267550.2(TTN):c.70203T>C (p.Ile23401=)
|
rs2154172628
|
|
|
NM_001267550.2(TTN):c.70206C>T (p.Ile23402=)
|
rs1575810587
|
|
|
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)
|
rs587780986
|
|
|
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs)
|
rs1553614347
|
|
|
NM_001267550.2(TTN):c.70215dup (p.Asn23406Ter)
|
rs1553614378
|
|
|
NM_001267550.2(TTN):c.70222del (p.Tyr23408fs)
|
rs2154172616
|
|
|
NM_001267550.2(TTN):c.70224T>A (p.Tyr23408Ter)
|
rs908321623
|
|
|
NM_001267550.2(TTN):c.70227T>C (p.Asp23409=)
|
rs2154172609
|
|
|
NM_001267550.2(TTN):c.70230C>T (p.Thr23410=)
|
rs370698218
|
|
|
NM_001267550.2(TTN):c.70244T>A (p.Met23415Lys)
|
rs765861604
|
|
|
NM_001267550.2(TTN):c.7026del (p.Lys2344fs)
|
rs1211627330
|
|
|
NM_001267550.2(TTN):c.70270A>T (p.Lys23424Ter)
|
|
|
|
NM_001267550.2(TTN):c.70278C>T (p.Gly23426=)
|
rs1007006087
|
|
|
NM_001267550.2(TTN):c.70296C>G (p.Val23432=)
|
rs778138805
|
|
|
NM_001267550.2(TTN):c.70314A>G (p.Pro23438=)
|
rs1575808959
|
|
|
NM_001267550.2(TTN):c.7031dup (p.Thr2345fs)
|
rs2091933920
|
|
|
NM_001267550.2(TTN):c.70323C>T (p.Asn23441=)
|
rs751179969
|
|
|
NM_001267550.2(TTN):c.70324C>A (p.Leu23442Met)
|
rs1553614105
|
|
|
NM_001267550.2(TTN):c.70341C>T (p.Ile23447=)
|
|
|
|
NM_001267550.2(TTN):c.70346del (p.Lys23449fs)
|
rs2154172536
|
|
|
NM_001267550.2(TTN):c.70371C>T (p.Asp23457=)
|
|
|
|
NM_001267550.2(TTN):c.70377T>C (p.Pro23459=)
|
rs768458635
|
|
|
NM_001267550.2(TTN):c.70379_70382dup (p.Gly23463fs)
|
rs2154172514
|
|
|
NM_001267550.2(TTN):c.70388del (p.Gly23463fs)
|
rs2154172507
|
|
|
NM_001267550.2(TTN):c.70401_70402dup (p.Thr23468fs)
|
|
|
|
NM_001267550.2(TTN):c.70407C>T (p.Asn23469=)
|
rs2154172489
|
|
|
NM_001267550.2(TTN):c.70413T>C (p.Ile23471=)
|
|
|
|
NM_001267550.2(TTN):c.7042_7045dup (p.Leu2349Ter)
|
|
|
|
NM_001267550.2(TTN):c.70437G>A (p.Arg23479=)
|
|
|
|
NM_001267550.2(TTN):c.70437del (p.Lys23480fs)
|
rs2154172462
|
|
|
NM_001267550.2(TTN):c.70446T>C (p.Tyr23482=)
|
|
|
|
NM_001267550.2(TTN):c.70464G>A (p.Lys23488=)
|
rs1181435043
|
|
|
NM_001267550.2(TTN):c.70467C>A (p.Cys23489Ter)
|
rs2154172442
|
|
|
NM_001267550.2(TTN):c.70473A>G (p.Lys23491=)
|
rs397517685
|
|
|
NM_001267550.2(TTN):c.70479A>G (p.Thr23493=)
|
rs879010176
|
|
|
NM_001267550.2(TTN):c.70480T>C (p.Tyr23494His)
|
rs72646888
|
|
|
NM_001267550.2(TTN):c.70482_70483del (p.Tyr23494_Lys23495delinsTer)
|
|
|
|
NM_001267550.2(TTN):c.70491del (p.Gly23498fs)
|
rs2154172422
|
|
|
NM_001267550.2(TTN):c.70501G>T (p.Glu23501Ter)
|
rs1709809170
|
|
|
NM_001267550.2(TTN):c.70524_70525del (p.Arg23508fs)
|
|
|
|
NM_001267550.2(TTN):c.70545T>C (p.Tyr23515=)
|
rs1575805406
|
|
|
NM_001267550.2(TTN):c.70554T>C (p.Gly23518=)
|
rs1483355164
|
|
|
NM_001267550.2(TTN):c.70557G>A (p.Glu23519=)
|
|
|
|
NM_001267550.2(TTN):c.70560A>C (p.Pro23520=)
|
|
|
|
NM_001267550.2(TTN):c.70560A>G (p.Pro23520=)
|
rs759355651
|
|
|
NM_001267550.2(TTN):c.7057+19G>T
|
rs1348394218
|
|
|
NM_001267550.2(TTN):c.7057+19del
|
|
|
|
NM_001267550.2(TTN):c.7057+1G>C
|
|
|
|
NM_001267550.2(TTN):c.7057+1del
|
|
|
|
NM_001267550.2(TTN):c.7057+2T>C
|
rs2154345049
|
|
|
NM_001267550.2(TTN):c.7057+7C>A
|
rs1574627182
|
|
|
NM_001267550.2(TTN):c.7057+8C>T
|
rs1330193226
|
|
|
NM_001267550.2(TTN):c.70571_70572dup (p.Glu23525fs)
|
rs1709775754
|
|
|
NM_001267550.2(TTN):c.7058-11A>C
|
rs375844169
|
|
|
NM_001267550.2(TTN):c.7058-11A>G
|
|
|
|
NM_001267550.2(TTN):c.7058-4A>G
|
rs2091914495
|
|
|
NM_001267550.2(TTN):c.70587C>T (p.Ala23529=)
|
|
|
|
NM_001267550.2(TTN):c.705A>T (p.Ala235=)
|
|
|
|
NM_001267550.2(TTN):c.70620C>T (p.Asn23540=)
|
|
|
|
NM_001267550.2(TTN):c.70629_70632dup (p.Thr23545fs)
|
rs2154172318
|
|
|
NM_001267550.2(TTN):c.70647C>A (p.Val23549=)
|
rs752532543
|
|
|
NM_001267550.2(TTN):c.70650C>T (p.Ser23550=)
|
|
|
|
NM_001267550.2(TTN):c.70655C>T (p.Ala23552Val)
|
rs754742503
|
|
|
NM_001267550.2(TTN):c.70662T>C (p.Pro23554=)
|
|
|
|
NM_001267550.2(TTN):c.70689G>A (p.Lys23563=)
|
|
|
|
NM_001267550.2(TTN):c.70698C>T (p.Gly23566=)
|
rs1553613149
|
|
|
NM_001267550.2(TTN):c.70701T>A (p.Tyr23567Ter)
|
|
|
|
NM_001267550.2(TTN):c.70713C>A (p.Ala23571=)
|
rs886933639
|
|
|
NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter)
|
rs1559449398
|
|
|
NM_001267550.2(TTN):c.70731C>T (p.Asp23577=)
|
|
|
|
NM_001267550.2(TTN):c.70745dup (p.Thr23583fs)
|
rs1559448864
|
|
|
NM_001267550.2(TTN):c.70746C>T (p.Ile23582=)
|
|
|
|
NM_001267550.2(TTN):c.70748C>T (p.Thr23583Ile)
|
rs397517687
|
|
|
NM_001267550.2(TTN):c.70761G>A (p.Gly23587=)
|
rs190149868
|
|
|
NM_001267550.2(TTN):c.70785_70788dup (p.Glu23597delinsAsnTer)
|
rs2154172210
|
|
|
NM_001267550.2(TTN):c.70788T>C (p.Thr23596=)
|
rs759981606
|
|
|
NM_001267550.2(TTN):c.70803T>C (p.Tyr23601=)
|
rs769541838
|
|
|
NM_001267550.2(TTN):c.70809C>T (p.Phe23603=)
|
|
|
|
NM_001267550.2(TTN):c.70813G>C (p.Val23605Leu)
|
rs368325616
|
|
|
NM_001267550.2(TTN):c.70814_70815insTT (p.Val23605_Met23606insTer)
|
rs1709673176
|
|
|
NM_001267550.2(TTN):c.70821A>G (p.Ala23607=)
|
rs1412386922
|
|
|
NM_001267550.2(TTN):c.70824G>T (p.Val23608=)
|
rs1248176732
|
|
|
NM_001267550.2(TTN):c.70830C>A (p.Ser23610Arg)
|
rs12464787
|
|
|
NM_001267550.2(TTN):c.70857C>T (p.Ser23619=)
|
|
|
|
NM_001267550.2(TTN):c.70875G>A (p.Lys23625=)
|
|
|
|
NM_001267550.2(TTN):c.70878G>A (p.Glu23626=)
|
rs1341917160
|
|
|
NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter)
|
rs1575799625
|
|
|
NM_001267550.2(TTN):c.70890T>C (p.Leu23630=)
|
rs2154172099
|
|
|
NM_001267550.2(TTN):c.70897dup (p.Leu23633fs)
|
rs1709631095
|
|
|
NM_001267550.2(TTN):c.70917T>A (p.Tyr23639Ter)
|
|
|
|
NM_001267550.2(TTN):c.70918C>T (p.Gln23640Ter)
|
|
|
|
NM_001267550.2(TTN):c.70920_70923dup (p.Leu23642fs)
|
|
|
|
NM_001267550.2(TTN):c.70922_70923delinsG (p.Lys23641fs)
|
rs1709617800
|
|
|
NM_001267550.2(TTN):c.70924C>T (p.Leu23642=)
|
|
|
|
NM_001267550.2(TTN):c.70936A>T (p.Lys23646Ter)
|
rs2154172066
|
|
|
NM_001267550.2(TTN):c.70950C>T (p.Asn23650=)
|
|
|
|
NM_001267550.2(TTN):c.70957del (p.Val23653fs)
|
rs2154172050
|
|
|
NM_001267550.2(TTN):c.70971G>A (p.Val23657=)
|
|
|
|
NM_001267550.2(TTN):c.70974C>T (p.Leu23658=)
|
|
|
|
NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter)
|
rs1553612386
|
|
|
NM_001267550.2(TTN):c.71002A>T (p.Lys23668Ter)
|
rs1553612321
|
|
|
NM_001267550.2(TTN):c.71010A>G (p.Gly23670=)
|
rs1709583820
|
|
|
NM_001267550.2(TTN):c.71024_71027del (p.Lys23675fs)
|
rs1709577304
|
|
|
NM_001267550.2(TTN):c.71034G>A (p.Gln23678=)
|
|
|
|
NM_001267550.2(TTN):c.71035_71038del (p.Arg23679fs)
|
rs1575797171
|
|
|
NM_001267550.2(TTN):c.71045_71046del (p.Asn23681_Phe23682insTer)
|
rs2154171990
|
|
|
NM_001267550.2(TTN):c.7104_7105del (p.Cys2368_Glu2369delinsTer)
|
rs2154344972
|
|
|
NM_001267550.2(TTN):c.71079C>T (p.Ile23693=)
|
rs2154171959
|
|
|
NM_001267550.2(TTN):c.7107G>A (p.Glu2369=)
|
rs2154344970
|
|
|
NM_001267550.2(TTN):c.71100T>C (p.Asp23700=)
|
|
|
|
NM_001267550.2(TTN):c.71106G>A (p.Gly23702=)
|
|
|
|
NM_001267550.2(TTN):c.71126_71127delinsA (p.Arg23709fs)
|
rs1709548356
|
|
|
NM_001267550.2(TTN):c.7113C>T (p.Asp2371=)
|
|
|
|
NM_001267550.2(TTN):c.71140G>A (p.Glu23714Lys)
|
rs767016969
|
|
|
NM_001267550.2(TTN):c.71146_71156del (p.Gly23716fs)
|
rs2154171911
|
|
|
NM_001267550.2(TTN):c.71147G>A (p.Gly23716Asp)
|
rs774327480
|
|
|
NM_001267550.2(TTN):c.71181A>C (p.Pro23727=)
|
rs748351899
|
|
|
NM_001267550.2(TTN):c.71187A>G (p.Pro23729=)
|
|
|
|
NM_001267550.2(TTN):c.71201_71204del (p.Ile23734fs)
|
rs2154171881
|
|
|
NM_001267550.2(TTN):c.7122G>A (p.Gln2374=)
|
rs774105753
|
|
|
NM_001267550.2(TTN):c.71237del (p.Phe23746fs)
|
|
|
|
NM_001267550.2(TTN):c.71238C>T (p.Phe23746=)
|
|
|
|
NM_001267550.2(TTN):c.71242del (p.Trp23748fs)
|
rs1060500514
|
|
|
NM_001267550.2(TTN):c.71244G>A (p.Trp23748Ter)
|
|
|
|
NM_001267550.2(TTN):c.71247C>T (p.Asp23749=)
|
|
|
|
NM_001267550.2(TTN):c.71262T>C (p.Asp23754=)
|
|
|
|
NM_001267550.2(TTN):c.71286T>C (p.Tyr23762=)
|
|
|
|
NM_001267550.2(TTN):c.71305A>T (p.Thr23769Ser)
|
rs776889753
|
|
|
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter)
|
rs727503567
|
|
|
NM_001267550.2(TTN):c.7134A>G (p.Lys2378=)
|
rs1574624330
|
|
|
NM_001267550.2(TTN):c.71351_71352insGGTA (p.Thr23785fs)
|
rs2154171770
|
|
|
NM_001267550.2(TTN):c.71352T>A (p.Thr23784=)
|
rs1709474052
|
|
|
NM_001267550.2(TTN):c.71356dup (p.Tyr23786fs)
|
rs2154171765
|
|
|
NM_001267550.2(TTN):c.71365dup (p.Thr23789fs)
|
|
|
|
NM_001267550.2(TTN):c.71378_71385del (p.Thr23793fs)
|
rs1709461632
|
|
|
NM_001267550.2(TTN):c.71383T>C (p.Leu23795=)
|
|
|
|
NM_001267550.2(TTN):c.71388G>T (p.Glu23796Asp)
|
rs878854330
|
|
|
NM_001267550.2(TTN):c.71407del (p.Ala23803fs)
|
|
|
|
NM_001267550.2(TTN):c.71408C>T (p.Ala23803Val)
|
rs1553611543
|
|
|
NM_001267550.2(TTN):c.71409T>G (p.Ala23803=)
|
|
|
|
NM_001267550.2(TTN):c.71415T>C (p.Asn23805=)
|
rs2154171722
|
|
|
NM_001267550.2(TTN):c.71445A>G (p.Ser23815=)
|
|
|
|
NM_001267550.2(TTN):c.71460C>T (p.Ala23820=)
|
rs1337230381
|
|
|
NM_001267550.2(TTN):c.71472T>C (p.Phe23824=)
|
rs2154171694
|
|
|
NM_001267550.2(TTN):c.71476G>C (p.Val23826Leu)
|
rs377751708
|
|
|
NM_001267550.2(TTN):c.71476del (p.Val23826fs)
|
|
|
|
NM_001267550.2(TTN):c.71478T>A (p.Val23826=)
|
rs1553611441
|
|
|
NM_001267550.2(TTN):c.71481T>C (p.Pro23827=)
|
|
|
|
NM_001267550.2(TTN):c.71481T>G (p.Pro23827=)
|
|
|
|
NM_001267550.2(TTN):c.7148del (p.Ser2383fs)
|
rs1060500437
|
|
|
NM_001267550.2(TTN):c.71490T>C (p.Pro23830=)
|
|
|
|
NM_001267550.2(TTN):c.71508T>C (p.Thr23836=)
|
rs1553611380
|
|
|
NM_001267550.2(TTN):c.71525C>G (p.Ser23842Ter)
|
|
|
|
NM_001267550.2(TTN):c.7152G>A (p.Val2384=)
|
rs2154344952
|
|
|
NM_001267550.2(TTN):c.71542_71564dup (p.Ser23856fs)
|
rs2154171645
|
|
|
NM_001267550.2(TTN):c.71550del (p.Leu23851fs)
|
|
|
|
NM_001267550.2(TTN):c.71559T>C (p.Asp23853=)
|
|
|
|
NM_001267550.2(TTN):c.71563G>T (p.Gly23855Ter)
|
rs794729381
|
|
|
NM_001267550.2(TTN):c.71568C>A (p.Ser23856Arg)
|
rs1060500519
|
|
|
NM_001267550.2(TTN):c.71586T>C (p.His23862=)
|
|
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
|
NM_001267550.2(TTN):c.71613T>C (p.Ile23871=)
|
rs1060503938
|
|
|
NM_001267550.2(TTN):c.71619G>A (p.Trp23873Ter)
|
|
|
|
NM_001267550.2(TTN):c.71631C>T (p.Ser23877=)
|
rs1206956303
|
|
|
NM_001267550.2(TTN):c.71634del (p.Ala23879fs)
|
rs727503565
|
|
|
NM_001267550.2(TTN):c.71646A>G (p.Pro23882=)
|
|
|
|
NM_001267550.2(TTN):c.71652C>T (p.Asn23884=)
|
rs2154171582
|
|
|
NM_001267550.2(TTN):c.71654T>C (p.Ile23885Thr)
|
rs1488254665
|
|
|
NM_001267550.2(TTN):c.71661A>G (p.Lys23887=)
|
rs1575788923
|
|
|
NM_001267550.2(TTN):c.71664A>T (p.Ser23888=)
|
|
|
|
NM_001267550.2(TTN):c.71685_71686insAAATA (p.Ala23896delinsLysTer)
|
rs1709360511
|
|
|
NM_001267550.2(TTN):c.71690_71691dup (p.Glu23898fs)
|
rs2154171550
|
|
|
NM_001267550.2(TTN):c.71709A>C (p.Ala23903=)
|
|
|
|
NM_001267550.2(TTN):c.71709A>G (p.Ala23903=)
|
|
|
|
NM_001267550.2(TTN):c.71763T>G (p.Ala23921=)
|
rs2154171497
|
|
|
NM_001267550.2(TTN):c.7177C>T (p.Gln2393Ter)
|
rs2154344933
|
|
|
NM_001267550.2(TTN):c.71817C>T (p.His23939=)
|
|
|
|
NM_001267550.2(TTN):c.71819C>T (p.Thr23940Ile)
|
rs1553610793
|
|
|
NM_001267550.2(TTN):c.71835G>A (p.Trp23945Ter)
|
rs1217858818
|
|
|
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs)
|
rs1254650118
|
|
|
NM_001267550.2(TTN):c.71850T>C (p.Tyr23950=)
|
|
|
|
NM_001267550.2(TTN):c.71868T>C (p.Ile23956=)
|
rs778594459
|
|
|
NM_001267550.2(TTN):c.71869del (p.Thr23957fs)
|
|
|
|
NM_001267550.2(TTN):c.71876A>G (p.Tyr23959Cys)
|
rs1709290294
|
|
|
NM_001267550.2(TTN):c.71877T>C (p.Tyr23959=)
|
rs2154171426
|
|
|
NM_001267550.2(TTN):c.71880C>T (p.Ile23960=)
|
rs1366447660
|
|
|
NM_001267550.2(TTN):c.71883T>G (p.Val23961=)
|
|
|
|
NM_001267550.2(TTN):c.71891G>A (p.Arg23964Lys)
|
rs770679732
|
|
|
NM_001267550.2(TTN):c.71895C>T (p.Asp23965=)
|
rs772655984
|
|
|
NM_001267550.2(TTN):c.71904T>C (p.Asn23968=)
|
rs2154171399
|
|
|
NM_001267550.2(TTN):c.71912G>A (p.Trp23971Ter)
|
|
|
|
NM_001267550.2(TTN):c.7198A>C (p.Arg2400=)
|
rs765593704
|
|
|
NM_001267550.2(TTN):c.71990del (p.Phe23997fs)
|
|
|
|
NM_001267550.2(TTN):c.72015A>T (p.Ala24005=)
|
|
|
|
NM_001267550.2(TTN):c.72025_72035del (p.Ile24008_Ser24009insTer)
|
|
|
|
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=)
|
rs72646894
|
|
|
NM_001267550.2(TTN):c.7203T>C (p.Val2401=)
|
rs1345996453
|
|
|
NM_001267550.2(TTN):c.72045T>C (p.Ser24015=)
|
rs764270464
|
|
|
NM_001267550.2(TTN):c.72054C>A (p.Ile24018=)
|
rs1575783092
|
|
|
NM_001267550.2(TTN):c.72060C>T (p.Cys24020=)
|
|
|
|
NM_001267550.2(TTN):c.72078A>G (p.Ala24026=)
|
rs1460533834
|
|
|
NM_001267550.2(TTN):c.72088A>T (p.Lys24030Ter)
|
rs1709195189
|
|
|
NM_001267550.2(TTN):c.720C>G (p.Val240=)
|
|
|
|
NM_001267550.2(TTN):c.720C>T (p.Val240=)
|
|
|
|
NM_001267550.2(TTN):c.72106A>C (p.Lys24036Gln)
|
rs544263357
|
|
|
NM_001267550.2(TTN):c.72106A>G (p.Lys24036Glu)
|
rs544263357
|
|
|
NM_001267550.2(TTN):c.72114G>C (p.Thr24038=)
|
rs768064912
|
|
|
NM_001267550.2(TTN):c.72129A>T (p.Ala24043=)
|
rs1553610082
|
|
|
NM_001267550.2(TTN):c.72130_72133del (p.Gly24044fs)
|
rs2154171220
|
|
|
NM_001267550.2(TTN):c.72132T>A (p.Gly24044=)
|
|
|
|
NM_001267550.2(TTN):c.72138A>G (p.Ala24046=)
|
|
|
|
NM_001267550.2(TTN):c.72150A>G (p.Glu24050=)
|
|
|
|
NM_001267550.2(TTN):c.72165C>T (p.Gly24055=)
|
|
|
|
NM_001267550.2(TTN):c.72171A>C (p.Pro24057=)
|
rs397517692
|
|
|
NM_001267550.2(TTN):c.72171A>G (p.Pro24057=)
|
rs397517692
|
|
|
NM_001267550.2(TTN):c.72174T>C (p.Pro24058=)
|
rs886042700
|
|
|
NM_001267550.2(TTN):c.72180A>G (p.Thr24060=)
|
rs786205320
|
|
|
NM_001267550.2(TTN):c.72208C>T (p.Leu24070=)
|
|
|
|
NM_001267550.2(TTN):c.72222A>G (p.Ala24074=)
|
rs763627374
|
|
|
NM_001267550.2(TTN):c.72225G>A (p.Lys24075=)
|
|
|
|
NM_001267550.2(TTN):c.72226_72229dup (p.Glu24077fs)
|
|
|
|
NM_001267550.2(TTN):c.72228A>G (p.Leu24076=)
|
|
|
|
NM_001267550.2(TTN):c.72231A>C (p.Glu24077Asp)
|
rs1423712037
|
|
|
NM_001267550.2(TTN):c.72261G>A (p.Leu24087=)
|
|
|
|
NM_001267550.2(TTN):c.72264A>G (p.Val24088=)
|
|
|
|
NM_001267550.2(TTN):c.72282A>G (p.Arg24094=)
|
rs2154171130
|
|
|
NM_001267550.2(TTN):c.7229A>C (p.His2410Pro)
|
rs747828487
|
|
|
NM_001267550.2(TTN):c.72303C>T (p.Thr24101=)
|
|
|
|
NM_001267550.2(TTN):c.72309A>G (p.Thr24103=)
|
|
|
|
NM_001267550.2(TTN):c.72318T>C (p.Asn24106=)
|
rs2154171101
|
|
|
NM_001267550.2(TTN):c.72339_72340del (p.Ile24114fs)
|
rs1559429489
|
|
|
NM_001267550.2(TTN):c.72356_72371dup (p.Gly24124_Pro24125insSerTer)
|
|
|
|
NM_001267550.2(TTN):c.72397del (p.Thr24133fs)
|
rs2154171047
|
|
|
NM_001267550.2(TTN):c.72410C>A (p.Ser24137Ter)
|
|
|
|
NM_001267550.2(TTN):c.7242T>C (p.Ile2414=)
|
rs727503689
|
|
|
NM_001267550.2(TTN):c.72433_72434insGA (p.Phe24145Ter)
|
rs1709055431
|
|
|
NM_001267550.2(TTN):c.72441A>G (p.Pro24147=)
|
|
|
|
NM_001267550.2(TTN):c.72441_72442del (p.Leu24148fs)
|
|
|
|
NM_001267550.2(TTN):c.72442C>T (p.Leu24148=)
|
|
|
|
NM_001267550.2(TTN):c.72474C>T (p.Tyr24158=)
|
rs2154170995
|
|
|
NM_001267550.2(TTN):c.72480A>C (p.Val24160=)
|
rs1709038132
|
|
|
NM_001267550.2(TTN):c.72489T>C (p.Arg24163=)
|
rs1575777567
|
|
|
NM_001267550.2(TTN):c.72492A>G (p.Glu24164=)
|
rs1265932438
|
|
|
NM_001267550.2(TTN):c.72509G>A (p.Trp24170Ter)
|
rs2154170981
|
|
|
NM_001267550.2(TTN):c.72516T>C (p.Asn24172=)
|
rs765095887
|
|
|
NM_001267550.2(TTN):c.72528A>C (p.Glu24176Asp)
|
rs878854331
|
|
|
NM_001267550.2(TTN):c.72542dup (p.Leu24182fs)
|
rs1709014153
|
|
|
NM_001267550.2(TTN):c.72544C>T (p.Leu24182=)
|
|
|
|
NM_001267550.2(TTN):c.72564G>A (p.Leu24188=)
|
rs2154170955
|
|
|
NM_001267550.2(TTN):c.72572A>C (p.Asn24191Thr)
|
rs1479698498
|
|
|
NM_001267550.2(TTN):c.72574G>T (p.Glu24192Ter)
|
rs2154170941
|
|
|
NM_001267550.2(TTN):c.72576A>G (p.Glu24192=)
|
|
|
|
NM_001267550.2(TTN):c.72611G>A (p.Gly24204Glu)
|
rs1553609189
|
|
|
NM_001267550.2(TTN):c.72612_72616del (p.Val24205fs)
|
rs2154170904
|
|
|
NM_001267550.2(TTN):c.72613del (p.Val24205fs)
|
rs1708996209
|
|
|
NM_001267550.2(TTN):c.72625C>T (p.Leu24209=)
|
|
|
|
NM_001267550.2(TTN):c.72630dup (p.Ser24211fs)
|
|
|
|
NM_001267550.2(TTN):c.72633A>C (p.Ser24211=)
|
rs1708984341
|
|
|
NM_001267550.2(TTN):c.72661G>T (p.Gly24221Ter)
|
|
|
|
NM_001267550.2(TTN):c.72668dup (p.Pro24223_Asp24224insTer)
|
|
|
|
NM_001267550.2(TTN):c.72696A>G (p.Thr24232=)
|
rs2154170828
|
|
|
NM_001267550.2(TTN):c.72705T>C (p.Thr24235=)
|
rs1190636945
|
|
|
NM_001267550.2(TTN):c.72716T>C (p.Met24239Thr)
|
rs750298083
|
|
|
NM_001267550.2(TTN):c.72720T>C (p.Val24240=)
|
rs550285671
|
|
|
NM_001267550.2(TTN):c.72730G>T (p.Gly24244Ter)
|
rs1708937897
|
|
|
NM_001267550.2(TTN):c.72743C>G (p.Ser24248Cys)
|
rs1060500474
|
|
|
NM_001267550.2(TTN):c.72756del (p.Ser24252fs)
|
|
|
|
NM_001267550.2(TTN):c.7275C>G (p.Tyr2425Ter)
|
|
|
|
NM_001267550.2(TTN):c.72765C>A (p.Ile24255=)
|
|
|
|
NM_001267550.2(TTN):c.72767dup (p.Asn24256fs)
|
|
|
|
NM_001267550.2(TTN):c.72768T>C (p.Asn24256=)
|
rs2154170789
|
|
|
NM_001267550.2(TTN):c.72771dup (p.Ile24258fs)
|
|
|
|
NM_001267550.2(TTN):c.72792A>G (p.Lys24264=)
|
|
|
|
NM_001267550.2(TTN):c.72816C>A (p.Cys24272Ter)
|
|
|
|
NM_001267550.2(TTN):c.72825A>G (p.Lys24275=)
|
|
|
|
NM_001267550.2(TTN):c.72826del (p.Thr24276fs)
|
rs971618751
|
|
|
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs)
|
rs971618751
|
|
|
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs)
|
rs751319893
|
|
|
NM_001267550.2(TTN):c.72839T>G (p.Leu24280Ter)
|
|
|
|
NM_001267550.2(TTN):c.72852G>A (p.Val24284=)
|
|
|
|
NM_001267550.2(TTN):c.72867del (p.Gly24290fs)
|
rs2154170719
|
|
|
NM_001267550.2(TTN):c.72873T>C (p.His24291=)
|
rs2154170714
|
|
|
NM_001267550.2(TTN):c.72873del (p.His24291fs)
|
rs1575772360
|
|
|
NM_001267550.2(TTN):c.7290A>G (p.Pro2430=)
|
|
|
|
NM_001267550.2(TTN):c.72923C>G (p.Pro24308Arg)
|
rs1553608507
|
|
|
NM_001267550.2(TTN):c.72935_72939del (p.Ser24312fs)
|
rs2154170669
|
|
|
NM_001267550.2(TTN):c.72939A>G (p.Pro24313=)
|
rs1359501384
|
|
|
NM_001267550.2(TTN):c.72945C>G (p.Tyr24315Ter)
|
rs879087983
|
|
|
NM_001267550.2(TTN):c.72948G>A (p.Lys24316=)
|
|
|
|
NM_001267550.2(TTN):c.72956_72963del (p.Asp24319fs)
|
rs1064793876
|
|
|
NM_001267550.2(TTN):c.72960T>A (p.Thr24320=)
|
|
|
|
NM_001267550.2(TTN):c.72963_72964del (p.Val24321_Phe24322insTer)
|
rs1708864326
|
|
|
NM_001267550.2(TTN):c.72993T>C (p.Arg24331=)
|
rs1312895296
|
|
|
NM_001267550.2(TTN):c.72C>T (p.Thr24=)
|
|
|
|
NM_001267550.2(TTN):c.73017C>T (p.Ser24339=)
|
|
|
|
NM_001267550.2(TTN):c.73044_73047dup (p.Asp24350delinsLeuTer)
|
|
|
|
NM_001267550.2(TTN):c.73046_73047del (p.Ile24348_Tyr24349insTer)
|
rs1708834541
|
|
|
NM_001267550.2(TTN):c.73047T>G (p.Tyr24349Ter)
|
rs2154170589
|
|
|
NM_001267550.2(TTN):c.73053T>C (p.Gly24351=)
|
rs1708829718
|
|
|
NM_001267550.2(TTN):c.73059A>G (p.Ser24353=)
|
|
|
|
NM_001267550.2(TTN):c.73068T>C (p.Thr24356=)
|
rs1264242838
|
|
|
NM_001267550.2(TTN):c.73074T>C (p.Tyr24358=)
|
|
|
|
NM_001267550.2(TTN):c.73075_73076dup (p.Met24359fs)
|
rs1575769723
|
|
|
NM_001267550.2(TTN):c.73098G>A (p.Glu24366=)
|
|
|
|
NM_001267550.2(TTN):c.73104T>C (p.Asp24368=)
|
rs2154170540
|
|
|
NM_001267550.2(TTN):c.73105_73115del (p.Glu24369fs)
|
rs2154170535
|
|
|
NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter)
|
rs869312115
|
|
|
NM_001267550.2(TTN):c.73110G>A (p.Trp24370Ter)
|
|
|
|
NM_001267550.2(TTN):c.7311T>C (p.Ser2437=)
|
rs2154344855
|
|
|
NM_001267550.2(TTN):c.73128A>T (p.Pro24376=)
|
|
|
|
NM_001267550.2(TTN):c.73146T>G (p.Thr24382=)
|
rs372092427
|
|
|
NM_001267550.2(TTN):c.73148C>A (p.Ser24383Ter)
|
|
|
|
NM_001267550.2(TTN):c.73155T>C (p.Thr24385=)
|
rs2154170507
|
|
|
NM_001267550.2(TTN):c.73156_73159dup (p.Thr24387fs)
|
rs2154170500
|
|
|
NM_001267550.2(TTN):c.73167C>A (p.Leu24389=)
|
rs1676091978
|
|
|
NM_001267550.2(TTN):c.73169C>A (p.Thr24390Lys)
|
rs1060500583
|
|
|
NM_001267550.2(TTN):c.73173G>A (p.Glu24391=)
|
|
|
|
NM_001267550.2(TTN):c.73175_73178dup (p.Glu24394fs)
|
rs2154170480
|
|
|
NM_001267550.2(TTN):c.73179G>A (p.Gln24393=)
|
rs1575768403
|
|
|
NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter)
|
|
|
|
NM_001267550.2(TTN):c.73218_73222dup (p.Gly24408fs)
|
|
|
|
NM_001267550.2(TTN):c.73233C>T (p.Ala24411=)
|
rs879070935
|
|
|
NM_001267550.2(TTN):c.73242T>G (p.Pro24414=)
|
|
|
|
NM_001267550.2(TTN):c.73244del (p.Gly24415fs)
|
rs1708759700
|
|
|
NM_001267550.2(TTN):c.73251A>C (p.Pro24417=)
|
|
|
|
NM_001267550.2(TTN):c.73272G>C (p.Leu24424=)
|
|
|
|
NM_001267550.2(TTN):c.73285G>T (p.Glu24429Ter)
|
rs373773552
|
|
|
NM_001267550.2(TTN):c.7330+15T>C
|
rs2154344835
|
|
|
NM_001267550.2(TTN):c.7330+15T>G
|
rs2154344835
|
|
|
NM_001267550.2(TTN):c.7330+16A>G
|
|
|
|
NM_001267550.2(TTN):c.7330+1_7330+8del
|
|
|
|
NM_001267550.2(TTN):c.7330+8C>T
|
|
|
|
NM_001267550.2(TTN):c.73308A>G (p.Lys24436=)
|
|
|
|
NM_001267550.2(TTN):c.7331-10G>A
|
|
|
|
NM_001267550.2(TTN):c.7331-18G>C
|
|
|
|
NM_001267550.2(TTN):c.7331-18G>T
|
|
|
|
NM_001267550.2(TTN):c.7331-1G>A
|
|
|
|
NM_001267550.2(TTN):c.7331-20GT[5]
|
|
|
|
NM_001267550.2(TTN):c.73314T>C (p.Val24438=)
|
|
|
|
NM_001267550.2(TTN):c.73317T>C (p.Thr24439=)
|
rs764696657
|
|
|
NM_001267550.2(TTN):c.73320A>C (p.Ile24440=)
|
rs1575766117
|
|
|
NM_001267550.2(TTN):c.73323G>A (p.Arg24441=)
|
|
|
|
NM_001267550.2(TTN):c.73324_73328delinsC (p.Ala24442fs)
|
rs1553607562
|
|
|
NM_001267550.2(TTN):c.7332dup (p.Val2445fs)
|
|
|
|
NM_001267550.2(TTN):c.73334C>A (p.Thr24445Asn)
|
rs377334665
|
|
|
NM_001267550.2(TTN):c.73335C>T (p.Thr24445=)
|
|
|
|
NM_001267550.2(TTN):c.73346_73347del (p.Phe24449fs)
|
rs2154170352
|
|
|
NM_001267550.2(TTN):c.73347del (p.Phe24449fs)
|
rs2154170352
|
|
|
NM_001267550.2(TTN):c.73348del (p.Val24450fs)
|
|
|
|
NM_001267550.2(TTN):c.73387del (p.Ala24463fs)
|
rs1553607425
|
|
|
NM_001267550.2(TTN):c.73389C>T (p.Ala24463=)
|
rs2154170321
|
|
|
NM_001267550.2(TTN):c.73392G>A (p.Arg24464=)
|
|
|
|
NM_001267550.2(TTN):c.73398T>C (p.His24466=)
|
rs375373437
|
|
|
NM_001267550.2(TTN):c.73411_73414del (p.Asp24471fs)
|
rs1708673550
|
|
|
NM_001267550.2(TTN):c.73419T>C (p.Ala24473=)
|
|
|
|
NM_001267550.2(TTN):c.73425C>T (p.Ile24475=)
|
|
|
|
NM_001267550.2(TTN):c.73426G>T (p.Glu24476Ter)
|
rs760487688
|
|
|
NM_001267550.2(TTN):c.73431C>T (p.Ser24477=)
|
rs1708665824
|
|
|
NM_001267550.2(TTN):c.73449G>A (p.Leu24483=)
|
rs1359097374
|
|
|
NM_001267550.2(TTN):c.73461A>G (p.Gly24487=)
|
|
|
|
NM_001267550.2(TTN):c.73467A>G (p.Val24489=)
|
rs2154170265
|
|
|
NM_001267550.2(TTN):c.73467A>T (p.Val24489=)
|
|
|
|
NM_001267550.2(TTN):c.73485C>T (p.Gly24495=)
|
|
|
|
NM_001267550.2(TTN):c.73508del (p.Asn24503fs)
|
rs886038839
|
|
|
NM_001267550.2(TTN):c.73522A>T (p.Lys24508Ter)
|
|
|
|
NM_001267550.2(TTN):c.73542T>C (p.Val24514=)
|
|
|
|
NM_001267550.2(TTN):c.73542T>G (p.Val24514=)
|
rs2154170229
|
|
|
NM_001267550.2(TTN):c.73543dup (p.Arg24515fs)
|
rs2154170227
|
|
|
NM_001267550.2(TTN):c.73551C>A (p.Leu24517=)
|
|
|
|
NM_001267550.2(TTN):c.73551C>T (p.Leu24517=)
|
rs1708627219
|
|
|
NM_001267550.2(TTN):c.73554T>C (p.Asp24518=)
|
|
|
|
NM_001267550.2(TTN):c.73557_73558dup (p.Pro24520fs)
|
rs1559415816
|
|
|
NM_001267550.2(TTN):c.73560A>G (p.Pro24520=)
|
|
|
|
NM_001267550.2(TTN):c.73563C>A (p.Gly24521=)
|
rs756809007
|
|
|
NM_001267550.2(TTN):c.73563C>G (p.Gly24521=)
|
rs756809007
|
|
|
NM_001267550.2(TTN):c.73563C>T (p.Gly24521=)
|
|
|
|
NM_001267550.2(TTN):c.73568del (p.Pro24523fs)
|
rs1559415567
|
|
|
NM_001267550.2(TTN):c.73568dup (p.Gln24524fs)
|
|
|
|
NM_001267550.2(TTN):c.7356A>G (p.Lys2452=)
|
|
|
|
NM_001267550.2(TTN):c.73570C>A (p.Gln24524Lys)
|
rs753429609
|
|
|
NM_001267550.2(TTN):c.73581_73585del (p.Val24528fs)
|
rs1708609129
|
|
|
NM_001267550.2(TTN):c.73593C>G (p.Val24531=)
|
rs1575762956
|
|
|
NM_001267550.2(TTN):c.73611A>G (p.Thr24537=)
|
|
|
|
NM_001267550.2(TTN):c.73619G>A (p.Trp24540Ter)
|
|
|
|
NM_001267550.2(TTN):c.73620G>A (p.Trp24540Ter)
|
rs2154170160
|
|
|
NM_001267550.2(TTN):c.7362T>A (p.Val2454=)
|
rs1574618784
|
|
|
NM_001267550.2(TTN):c.73644T>C (p.Gly24548=)
|
|
|
|
NM_001267550.2(TTN):c.73646C>G (p.Ser24549Ter)
|
|
|
|
NM_001267550.2(TTN):c.73650A>G (p.Lys24550=)
|
rs2154170139
|
|
|
NM_001267550.2(TTN):c.7365T>G (p.Asn2455Lys)
|
rs777738635
|
|
|
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs)
|
rs794729397
|
|
|
NM_001267550.2(TTN):c.73687A>T (p.Arg24563Ter)
|
|
|
|
NM_001267550.2(TTN):c.7368G>C (p.Val2456=)
|
rs886055301
|
|
|
NM_001267550.2(TTN):c.73734G>A (p.Trp24578Ter)
|
rs753105114
|
|
|
NM_001267550.2(TTN):c.73735_73738del (p.Trp24578_Lys24579insTer)
|
|
|
|
NM_001267550.2(TTN):c.73737G>A (p.Lys24579=)
|
|
|
|
NM_001267550.2(TTN):c.73750C>T (p.Gln24584Ter)
|
|
|
|
NM_001267550.2(TTN):c.73776G>A (p.Arg24592=)
|
rs886055247
|
|
|
NM_001267550.2(TTN):c.73779T>C (p.Val24593=)
|
|
|
|
NM_001267550.2(TTN):c.7377C>A (p.Gly2459=)
|
rs2154344748
|
|
|
NM_001267550.2(TTN):c.73792G>T (p.Glu24598Ter)
|
rs1708526179
|
|
|
NM_001267550.2(TTN):c.73827A>G (p.Glu24609=)
|
rs754097967
|
|
|
NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs)
|
rs1708504899
|
|
|
NM_001267550.2(TTN):c.73833G>T (p.Val24611=)
|
rs2154170017
|
|
|
NM_001267550.2(TTN):c.73842A>C (p.Ser24614=)
|
rs1298294252
|
|
|
NM_001267550.2(TTN):c.73845del (p.Glu24615fs)
|
rs397517696
|
|
|
NM_001267550.2(TTN):c.73851T>C (p.Pro24617=)
|
|
|
|
NM_001267550.2(TTN):c.7386T>G (p.Ala2462=)
|
rs767718451
|
|
|
NM_001267550.2(TTN):c.73878G>A (p.Met24626Ile)
|
rs1060500561
|
|
|
NM_001267550.2(TTN):c.73884C>T (p.Val24628=)
|
rs2154169974
|
|
|
NM_001267550.2(TTN):c.73887A>G (p.Thr24629=)
|
|
|
|
NM_001267550.2(TTN):c.73893T>C (p.Asn24631=)
|
|
|
|
NM_001267550.2(TTN):c.73896_73897insACT (p.Ser24632_Val24633insThr)
|
rs1060500433
|
|
|
NM_001267550.2(TTN):c.7389G>A (p.Val2463=)
|
rs1574618359
|
|
|
NM_001267550.2(TTN):c.73904T>C (p.Leu24635Pro)
|
rs1553606189
|
|
|
NM_001267550.2(TTN):c.73911G>A (p.Trp24637Ter)
|
rs1708468046
|
|
|
NM_001267550.2(TTN):c.73920A>G (p.Pro24640=)
|
rs2154169948
|
|
|
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter)
|
rs2154169928
|
|
|
NM_001267550.2(TTN):c.73954A>G (p.Ile24652Val)
|
rs760045336
|
|
|
NM_001267550.2(TTN):c.73974_73978del (p.Lys24658_Gly24659insTer)
|
rs2154169901
|
|
|
NM_001267550.2(TTN):c.73975_74029del (p.Gly24659fs)
|
|
|
|
NM_001267550.2(TTN):c.7398T>C (p.Cys2466=)
|
rs2154344736
|
|
|
NM_001267550.2(TTN):c.73992C>T (p.Ala24664=)
|
rs1328943315
|
|
|
NM_001267550.2(TTN):c.73995G>T (p.Thr24665=)
|
|
|
|
NM_001267550.2(TTN):c.73998T>A (p.Cys24666Ter)
|
|
|
|
NM_001267550.2(TTN):c.74015del (p.Thr24672fs)
|
|
|
|
NM_001267550.2(TTN):c.7401G>A (p.Lys2467=)
|
|
|
|
NM_001267550.2(TTN):c.74021C>T (p.Ala24674Val)
|
rs1158950009
|
|
|
NM_001267550.2(TTN):c.74024C>G (p.Thr24675Ser)
|
rs1553606008
|
|
|
NM_001267550.2(TTN):c.74028C>A (p.Ile24676=)
|
|
|
|
NM_001267550.2(TTN):c.74033_74036del (p.Gly24678fs)
|
rs2154169838
|
|
|
NM_001267550.2(TTN):c.74041C>T (p.Gln24681Ter)
|
rs1575756767
|
|
|
NM_001267550.2(TTN):c.74057C>T (p.Ser24686Phe)
|
rs727504921
|
|
|
NM_001267550.2(TTN):c.74067T>G (p.Val24689=)
|
|
|
|
NM_001267550.2(TTN):c.74074C>T (p.Gln24692Ter)
|
|
|
|
NM_001267550.2(TTN):c.74085G>A (p.Lys24695=)
|
|
|
|
NM_001267550.2(TTN):c.74099_74124del (p.Pro24700fs)
|
rs1708368133
|
|
|
NM_001267550.2(TTN):c.74124C>T (p.Ile24708=)
|
|
|
|
NM_001267550.2(TTN):c.74127C>T (p.Ala24709=)
|
|
|
|
NM_001267550.2(TTN):c.74139C>A (p.Val24713=)
|
rs752387560
|
|
|
NM_001267550.2(TTN):c.74139C>T (p.Val24713=)
|
rs752387560
|
|
|
NM_001267550.2(TTN):c.74142T>A (p.Ile24714=)
|
|
|
|
NM_001267550.2(TTN):c.74202dup (p.Val24735fs)
|
rs2154169694
|
|
|
NM_001267550.2(TTN):c.74229T>G (p.Pro24743=)
|
|
|
|
NM_001267550.2(TTN):c.74258del (p.Asn24753fs)
|
rs2154169665
|
|
|
NM_001267550.2(TTN):c.74259T>C (p.Asn24753=)
|
|
|
|
NM_001267550.2(TTN):c.74262A>G (p.Val24754=)
|
rs745865847
|
|
|
NM_001267550.2(TTN):c.74266C>T (p.Leu24756=)
|
rs2154169657
|
|
|
NM_001267550.2(TTN):c.74271G>A (p.Lys24757=)
|
|
|
|
NM_001267550.2(TTN):c.74280T>C (p.Thr24760=)
|
|
|
|
NM_001267550.2(TTN):c.74283A>G (p.Arg24761=)
|
rs1559406924
|
|
|
NM_001267550.2(TTN):c.74286A>T (p.Val24762=)
|
rs757652524
|
|
|
NM_001267550.2(TTN):c.74295G>A (p.Glu24765=)
|
rs756519457
|
|
|
NM_001267550.2(TTN):c.74301A>G (p.Thr24767=)
|
|
|
|
NM_001267550.2(TTN):c.74310T>C (p.Asn24770=)
|
rs2154169622
|
|
|
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter)
|
rs794729285
|
|
|
NM_001267550.2(TTN):c.74340A>C (p.Arg24780=)
|
rs878929961
|
|
|
NM_001267550.2(TTN):c.74358T>C (p.Tyr24786=)
|
|
|
|
NM_001267550.2(TTN):c.74358del (p.His24785_Tyr24786insTer)
|
rs1708277443
|
|
|
NM_001267550.2(TTN):c.74367del (p.Lys24789fs)
|
rs2154169575
|
|
|
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer)
|
rs1064796390
|
|
|
NM_001267550.2(TTN):c.74374_74377dup (p.Ser24793Ter)
|
|
|
|
NM_001267550.2(TTN):c.74379A>C (p.Ser24793=)
|
rs2154169557
|
|
|
NM_001267550.2(TTN):c.74391T>C (p.Ala24797=)
|
rs760809843
|
|
|
NM_001267550.2(TTN):c.74415T>C (p.Val24805=)
|
rs2154169537
|
|
|
NM_001267550.2(TTN):c.74444del (p.Pro24815fs)
|
|
|
|
NM_001267550.2(TTN):c.74452dup (p.Met24818fs)
|
rs2154169509
|
|
|
NM_001267550.2(TTN):c.74475T>C (p.Ser24825=)
|
|
|
|
NM_001267550.2(TTN):c.74490G>A (p.Trp24830Ter)
|
rs1708235406
|
|
|
NM_001267550.2(TTN):c.74493C>A (p.Gly24831=)
|
rs2154169489
|
|
|
NM_001267550.2(TTN):c.74499C>G (p.Pro24833=)
|
rs1553605256
|
|
|
NM_001267550.2(TTN):c.74508T>C (p.Asp24836=)
|
rs1060503924
|
|
|
NM_001267550.2(TTN):c.7450C>T (p.Gln2484Ter)
|
rs2091844239
|
|
|
NM_001267550.2(TTN):c.74511T>C (p.Gly24837=)
|
rs2154169470
|
|
|
NM_001267550.2(TTN):c.74517T>C (p.Ser24839=)
|
rs1301601226
|
|
|
NM_001267550.2(TTN):c.74519C>A (p.Ser24840Tyr)
|
rs1060500559
|
|
|
NM_001267550.2(TTN):c.74532del (p.Asn24843_Tyr24844insTer)
|
rs2154169439
|
|
|
NM_001267550.2(TTN):c.74536del (p.Val24846fs)
|
rs1553605154
|
|
|
NM_001267550.2(TTN):c.7455C>T (p.Ile2485=)
|
rs771849393
|
|
|
NM_001267550.2(TTN):c.74569C>T (p.Gln24857Ter)
|
|
|
|
NM_001267550.2(TTN):c.74574T>C (p.Ile24858=)
|
rs1553605045
|
|
|
NM_001267550.2(TTN):c.74585del (p.Thr24862fs)
|
|
|
|
NM_001267550.2(TTN):c.7458G>A (p.Lys2486=)
|
rs1554000842
|
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
|
NM_001267550.2(TTN):c.74608G>C (p.Ala24870Pro)
|
rs768892376
|
|
|
NM_001267550.2(TTN):c.74608del (p.Ala24870fs)
|
rs878854332
|
|
|
NM_001267550.2(TTN):c.74612G>A (p.Cys24871Tyr)
|
rs1553604956
|
|
|
NM_001267550.2(TTN):c.74619G>A (p.Leu24873=)
|
|
|
|
NM_001267550.2(TTN):c.74631T>C (p.Cys24877=)
|
|
|
|
NM_001267550.2(TTN):c.74638C>T (p.Gln24880Ter)
|
rs1553604869
|
|
|
NM_001267550.2(TTN):c.74655T>C (p.Ala24885=)
|
rs1060503930
|
|
|
NM_001267550.2(TTN):c.74677_74678dup (p.Tyr24894fs)
|
rs2154169318
|
|
|
NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu)
|
rs148920986
|
|
|
NM_001267550.2(TTN):c.74704G>A (p.Ala24902Thr)
|
rs1260354990
|
|
|
NM_001267550.2(TTN):c.74716_74719del (p.Phe24906fs)
|
rs2154169290
|
|
|
NM_001267550.2(TTN):c.74736T>C (p.Pro24912=)
|
rs2154169284
|
|
|
NM_001267550.2(TTN):c.7473A>G (p.Val2491=)
|
rs2154344707
|
|
|
NM_001267550.2(TTN):c.74766G>A (p.Arg24922=)
|
rs372814940
|
|
|
NM_001267550.2(TTN):c.747G>A (p.Leu249=)
|
rs1554041576
|
|
|
NM_001267550.2(TTN):c.74805T>C (p.Asp24935=)
|
|
|
|
NM_001267550.2(TTN):c.7482T>C (p.Ile2494=)
|
rs749215640
|
|
|
NM_001267550.2(TTN):c.74830C>A (p.His24944Asn)
|
rs779868325
|
|
|
NM_001267550.2(TTN):c.74848del (p.Arg24950fs)
|
rs2154169198
|
|
|
NM_001267550.2(TTN):c.74852del (p.Asn24951fs)
|
|
|
|
NM_001267550.2(TTN):c.74853T>C (p.Asn24951=)
|
rs1575745292
|
|
|
NM_001267550.2(TTN):c.74871G>A (p.Lys24957=)
|
|
|
|
NM_001267550.2(TTN):c.74872T>C (p.Leu24958=)
|
rs371888899
|
|
|
NM_001267550.2(TTN):c.74877T>C (p.Asn24959=)
|
|
|
|
NM_001267550.2(TTN):c.74895A>G (p.Gln24965=)
|
rs201512527
|
|
|
NM_001267550.2(TTN):c.7491T>C (p.Gly2497=)
|
rs2154344699
|
|
|
NM_001267550.2(TTN):c.74928T>A (p.Gly24976=)
|
|
|
|
NM_001267550.2(TTN):c.7493del (p.Thr2498fs)
|
rs2154344697
|
|
|
NM_001267550.2(TTN):c.74958G>A (p.Glu24986=)
|
rs2154169134
|
|
|
NM_001267550.2(TTN):c.74964C>T (p.Ile24988=)
|
rs777883873
|
|
|
NM_001267550.2(TTN):c.74987_74991dup (p.Ser24998fs)
|
rs1553604316
|
|
|
NM_001267550.2(TTN):c.74988A>C (p.Lys24996Asn)
|
rs933609400
|
|
|
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter)
|
rs1561253718
|
|
|
NM_001267550.2(TTN):c.74995_74996del (p.Glu24999fs)
|
rs1708041287
|
|
|
NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter)
|
rs781459488
|
|
|
NM_001267550.2(TTN):c.75048C>T (p.Ile25016=)
|
rs2154169056
|
|
|
NM_001267550.2(TTN):c.75060G>A (p.Arg25020=)
|
rs770758161
|
|
|
NM_001267550.2(TTN):c.7506A>G (p.Leu2502=)
|
rs2091836775
|
|
|
NM_001267550.2(TTN):c.75075T>C (p.Leu25025=)
|
rs1057523530
|
|
|
NM_001267550.2(TTN):c.75078G>A (p.Gln25026=)
|
|
|
|
NM_001267550.2(TTN):c.75080G>A (p.Trp25027Ter)
|
|
|
|
NM_001267550.2(TTN):c.75093C>A (p.Thr25031=)
|
rs2154169022
|
|
|
NM_001267550.2(TTN):c.75106_75110del (p.Ser25036fs)
|
rs2154169014
|
|
|
NM_001267550.2(TTN):c.75117T>A (p.Thr25039=)
|
|
|
|
NM_001267550.2(TTN):c.75127G>T (p.Val25043Phe)
|
rs559907766
|
|
|
NM_001267550.2(TTN):c.75129T>C (p.Val25043=)
|
rs767050764
|
|
|
NM_001267550.2(TTN):c.75138A>G (p.Lys25046=)
|
|
|
|
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs)
|
rs794729340
|
|
|
NM_001267550.2(TTN):c.75139G>T (p.Glu25047Ter)
|
|
|
|
NM_001267550.2(TTN):c.75147T>G (p.Pro25049=)
|
rs1553604038
|
|
|
NM_001267550.2(TTN):c.75148G>T (p.Glu25050Ter)
|
rs770754919
|
|
|
NM_001267550.2(TTN):c.75150G>A (p.Glu25050=)
|
|
|
|
NM_001267550.2(TTN):c.75156T>C (p.Arg25052=)
|
|
|
|
NM_001267550.2(TTN):c.75161T>C (p.Met25054Thr)
|
rs1553604004
|
|
|
NM_001267550.2(TTN):c.7516C>T (p.Arg2506Ter)
|
rs780415493
|
|
|
NM_001267550.2(TTN):c.75180T>C (p.Asn25060=)
|
|
|
|
NM_001267550.2(TTN):c.75192T>A (p.Thr25064=)
|
rs370480927
|
|
|
NM_001267550.2(TTN):c.75204A>C (p.Val25068=)
|
rs1485443650
|
|
|
NM_001267550.2(TTN):c.75231T>A (p.Tyr25077Ter)
|
rs750699540
|
|
|
NM_001267550.2(TTN):c.75237C>T (p.Phe25079=)
|
|
|
|
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter)
|
rs794729286
|
|
|
NM_001267550.2(TTN):c.75267G>C (p.Val25089=)
|
|
|
|
NM_001267550.2(TTN):c.75268_75274del (p.Phe25090fs)
|
rs2154168865
|
|
|
NM_001267550.2(TTN):c.75276G>A (p.Glu25092=)
|
|
|
|
NM_001267550.2(TTN):c.75277C>G (p.Pro25093Ala)
|
rs748359400
|
|
|
NM_001267550.2(TTN):c.75297A>G (p.Ala25099=)
|
rs1354658470
|
|
|
NM_001267550.2(TTN):c.75325C>T (p.Pro25109Ser)
|
rs1060500498
|
|
|
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter)
|
rs794729382
|
|
|
NM_001267550.2(TTN):c.75333_75334dup (p.Ser25112fs)
|
rs2154168819
|
|
|
NM_001267550.2(TTN):c.75342T>C (p.Asp25114=)
|
rs1707914737
|
|
|
NM_001267550.2(TTN):c.75354del (p.Asp25119fs)
|
rs1559394355
|
|
|
NM_001267550.2(TTN):c.75359C>A (p.Thr25120Lys)
|
rs878854333
|
|
|
NM_001267550.2(TTN):c.75372T>C (p.His25124=)
|
rs1575738349
|
|
|
NM_001267550.2(TTN):c.75378T>G (p.Gly25126=)
|
|
|
|
NM_001267550.2(TTN):c.75386dup (p.Lys25130fs)
|
rs1707893646
|
|
|
NM_001267550.2(TTN):c.75411C>A (p.Gly25137=)
|
|
|
|
NM_001267550.2(TTN):c.75438A>C (p.Ile25146=)
|
rs957042580
|
|
|
NM_001267550.2(TTN):c.75448C>T (p.Gln25150Ter)
|
|
|
|
NM_001267550.2(TTN):c.75450G>A (p.Gln25150=)
|
rs1189168893
|
|
|
NM_001267550.2(TTN):c.75458_75459dup (p.Asn25154fs)
|
|
|
|
NM_001267550.2(TTN):c.75468T>C (p.Ala25156=)
|
rs751263805
|
|
|
NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter)
|
rs1553603394
|
|
|
NM_001267550.2(TTN):c.75474A>G (p.Leu25158=)
|
|
|
|
NM_001267550.2(TTN):c.75482dup (p.Ser25162fs)
|
|
|
|
NM_001267550.2(TTN):c.75489C>G (p.Thr25163=)
|
|
|
|
NM_001267550.2(TTN):c.75489C>T (p.Thr25163=)
|
rs1234238096
|
|
|
NM_001267550.2(TTN):c.75501C>A (p.Thr25167=)
|
rs1296646228
|
|
|
NM_001267550.2(TTN):c.75510T>C (p.Ser25170=)
|
|
|
|
NM_001267550.2(TTN):c.7551G>A (p.Leu2517=)
|
rs2154344669
|
|
|
NM_001267550.2(TTN):c.75522A>T (p.Ala25174=)
|
rs6732060
|
|
|
NM_001267550.2(TTN):c.75528T>C (p.Arg25176=)
|
|
|
|
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)
|
rs1553603152
|
|
|
NM_001267550.2(TTN):c.75564T>C (p.Asn25188=)
|
rs2154168623
|
|
|
NM_001267550.2(TTN):c.75589del (p.Thr25196_Val25197insTer)
|
|
|
|
NM_001267550.2(TTN):c.75600G>A (p.Lys25200=)
|
|
|
|
NM_001267550.2(TTN):c.75606T>C (p.Leu25202=)
|
rs2154168595
|
|
|
NM_001267550.2(TTN):c.75618G>C (p.Gly25206=)
|
|
|
|
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)
|
rs1553603036
|
|
|
NM_001267550.2(TTN):c.75639T>C (p.Val25213=)
|
|
|
|
NM_001267550.2(TTN):c.75642C>T (p.Ile25214=)
|
rs1559390679
|
|
|
NM_001267550.2(TTN):c.75653C>T (p.Thr25218Ile)
|
rs1060500521
|
|
|
NM_001267550.2(TTN):c.75663del (p.Lys25221fs)
|
rs1131691542
|
|
|
NM_001267550.2(TTN):c.75663dup (p.Cys25222fs)
|
|
|
|
NM_001267550.2(TTN):c.75670C>T (p.Leu25224=)
|
|
|
|
NM_001267550.2(TTN):c.75705T>C (p.Ser25235=)
|
|
|
|
NM_001267550.2(TTN):c.75708C>T (p.Asp25236=)
|
|
|
|
NM_001267550.2(TTN):c.75741del (p.Ser25248fs)
|
|
|
|
NM_001267550.2(TTN):c.75747C>T (p.Arg25249=)
|
rs2154168503
|
|
|
NM_001267550.2(TTN):c.75753T>C (p.Val25251=)
|
rs762251259
|
|
|
NM_001267550.2(TTN):c.75768T>C (p.Asp25256=)
|
|
|
|
NM_001267550.2(TTN):c.75786C>A (p.Leu25262=)
|
|
|
|
NM_001267550.2(TTN):c.75804G>A (p.Lys25268=)
|
|
|
|
NM_001267550.2(TTN):c.75828T>G (p.Thr25276=)
|
rs1575732608
|
|
|
NM_001267550.2(TTN):c.75841G>T (p.Ala25281Ser)
|
rs754787711
|
|
|
NM_001267550.2(TTN):c.7584C>G (p.Leu2528=)
|
rs2154344653
|
|
|
NM_001267550.2(TTN):c.75865G>T (p.Glu25289Ter)
|
|
|
|
NM_001267550.2(TTN):c.75872T>C (p.Leu25291Pro)
|
rs1559388448
|
|
|
NM_001267550.2(TTN):c.75895A>T (p.Lys25299Ter)
|
|
|
|
NM_001267550.2(TTN):c.75898_75901dup (p.Pro25301fs)
|
|
|
|
NM_001267550.2(TTN):c.75900del (p.Pro25301fs)
|
|
|
|
NM_001267550.2(TTN):c.75906T>C (p.Phe25302=)
|
rs2154168404
|
|
|
NM_001267550.2(TTN):c.75913C>T (p.Pro25305Ser)
|
rs1005621705
|
|
|
NM_001267550.2(TTN):c.75936A>G (p.Glu25312=)
|
rs560643672
|
|
|
NM_001267550.2(TTN):c.7594+15A>T
|
|
|
|
NM_001267550.2(TTN):c.7594+20T>C
|
|
|
|
NM_001267550.2(TTN):c.7594+20_7594+23del
|
rs768687530
|
|
|
NM_001267550.2(TTN):c.7594+2T>A
|
rs2091827779
|
|
|
NM_001267550.2(TTN):c.7594+3A>G
|
rs769765778
|
|
|
NM_001267550.2(TTN):c.7595-10T>C
|
|
|
|
NM_001267550.2(TTN):c.7595-17T>C
|
|
|
|
NM_001267550.2(TTN):c.7595-7del
|
rs774519095
|
|
|
NM_001267550.2(TTN):c.75952A>G (p.Lys25318Glu)
|
rs878854334
|
|
|
NM_001267550.2(TTN):c.75968T>G (p.Val25323Gly)
|
rs781058398
|
|
|
NM_001267550.2(TTN):c.75972A>G (p.Val25324=)
|
|
|
|
NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter)
|
rs1553602546
|
|
|
NM_001267550.2(TTN):c.75981A>G (p.Arg25327=)
|
rs2154168341
|
|
|
NM_001267550.2(TTN):c.75984_75985insTACCA (p.Ala25329fs)
|
rs1707618662
|
|
|
NM_001267550.2(TTN):c.75993T>C (p.Asp25331=)
|
|
|
|
NM_001267550.2(TTN):c.75996T>A (p.Gly25332=)
|
|
|
|
NM_001267550.2(TTN):c.7599del (p.Ile2535fs)
|
rs2091811840
|
|
|
NM_001267550.2(TTN):c.76008T>C (p.Ile25336=)
|
rs753952895
|
|
|
NM_001267550.2(TTN):c.76044C>A (p.Gly25348=)
|
rs1707591921
|
|
|
NM_001267550.2(TTN):c.76062C>T (p.Cys25354=)
|
rs1483001698
|
|
|
NM_001267550.2(TTN):c.76065T>C (p.His25355=)
|
|
|
|
NM_001267550.2(TTN):c.76071T>C (p.Arg25357=)
|
|
|
|
NM_001267550.2(TTN):c.76074G>A (p.Leu25358=)
|
|
|
|
NM_001267550.2(TTN):c.76086G>A (p.Leu25362=)
|
|
|
|
NM_001267550.2(TTN):c.76092G>A (p.Leu25364=)
|
|
|
|
NM_001267550.2(TTN):c.76107C>G (p.Leu25369=)
|
|
|
|
NM_001267550.2(TTN):c.76107C>T (p.Leu25369=)
|
|
|
|
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs)
|
rs774604740
|
|
|
NM_001267550.2(TTN):c.76122T>C (p.Asp25374=)
|
rs1553602290
|
|
|
NM_001267550.2(TTN):c.76134_76135del (p.Arg25378fs)
|
rs2154168209
|
|
|
NM_001267550.2(TTN):c.76155T>C (p.Ala25385=)
|
rs1553602242
|
|
|
NM_001267550.2(TTN):c.76155_76158dup (p.Leu25387fs)
|
|
|
|
NM_001267550.2(TTN):c.76173C>T (p.Ser25391=)
|
|
|
|
NM_001267550.2(TTN):c.76179T>C (p.Pro25393=)
|
rs2154168168
|
|
|
NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs)
|
rs878854335
|
|
|
NM_001267550.2(TTN):c.76186T>G (p.Tyr25396Asp)
|
rs771853872
|
|
|
NM_001267550.2(TTN):c.76187A>G (p.Tyr25396Cys)
|
rs1060500403
|
|
|
NM_001267550.2(TTN):c.76210del (p.Tyr25404fs)
|
|
|
|
NM_001267550.2(TTN):c.76226del (p.Pro25409fs)
|
rs2154168142
|
|
|
NM_001267550.2(TTN):c.76240dup (p.Val25414fs)
|
rs1707514832
|
|
|
NM_001267550.2(TTN):c.76248C>T (p.Asp25416=)
|
rs781781445
|
|
|
NM_001267550.2(TTN):c.7624C>T (p.Leu2542Phe)
|
rs762722498
|
|
|
NM_001267550.2(TTN):c.76260T>C (p.Ser25420=)
|
rs2154168112
|
|
|
NM_001267550.2(TTN):c.76262C>A (p.Ser25421Ter)
|
rs1707503235
|
|
|
NM_001267550.2(TTN):c.76278G>A (p.Trp25426Ter)
|
rs1064794060
|
|
|
NM_001267550.2(TTN):c.7628C>G (p.Thr2543Ser)
|
rs765136135
|
|
|
NM_001267550.2(TTN):c.7628C>T (p.Thr2543Ile)
|
rs765136135
|
|
|
NM_001267550.2(TTN):c.76296T>C (p.Asp25432=)
|
rs868081432
|
|
|
NM_001267550.2(TTN):c.76305T>C (p.Cys25435=)
|
|
|
|
NM_001267550.2(TTN):c.76332dup (p.Cys25445fs)
|
rs1707471794
|
|
|
NM_001267550.2(TTN):c.76335T>C (p.Cys25445=)
|
|
|
|
NM_001267550.2(TTN):c.76342_76345del (p.Ser25448fs)
|
|
|
|
NM_001267550.2(TTN):c.76342_76345dup (p.Val25449fs)
|
rs2154168044
|
|
|
NM_001267550.2(TTN):c.76350T>C (p.Gly25450=)
|
|
|
|
NM_001267550.2(TTN):c.76355G>A (p.Trp25452Ter)
|
|
|
|
NM_001267550.2(TTN):c.76356G>A (p.Trp25452Ter)
|
rs2154168035
|
|
|
NM_001267550.2(TTN):c.76393_76396del (p.Thr25464_Asn25465insTer)
|
rs727504483
|
|
|
NM_001267550.2(TTN):c.76398A>C (p.Ile25466=)
|
|
|
|
NM_001267550.2(TTN):c.7639del (p.Thr2547fs)
|
rs1060500400
|
|
|
NM_001267550.2(TTN):c.76414T>C (p.Leu25472=)
|
rs1316599129
|
|
|
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter)
|
rs727503688
|
|
|
NM_001267550.2(TTN):c.76446_76447del (p.Ala25483fs)
|
rs1707425522
|
|
|
NM_001267550.2(TTN):c.76467T>C (p.Val25489=)
|
rs751457831
|
|
|
NM_001267550.2(TTN):c.76473A>G (p.Glu25491=)
|
rs1362910750
|
|
|
NM_001267550.2(TTN):c.76488T>C (p.Pro25496=)
|
rs1295625019
|
|
|
NM_001267550.2(TTN):c.76492C>A (p.Pro25498Thr)
|
rs377754701
|
|
|
NM_001267550.2(TTN):c.76492C>G (p.Pro25498Ala)
|
rs377754701
|
|
|
NM_001267550.2(TTN):c.76506A>G (p.Glu25502=)
|
rs1575724281
|
|
|
NM_001267550.2(TTN):c.76507del (p.Glu25503fs)
|
rs2154167928
|
|
|
NM_001267550.2(TTN):c.76513_76514dup (p.Leu25505fs)
|
|
|
|
NM_001267550.2(TTN):c.7653G>A (p.Val2551=)
|
rs776508792
|
|
|
NM_001267550.2(TTN):c.76540del (p.Asp25513_Leu25514insTer)
|
rs1559382080
|
|
|
NM_001267550.2(TTN):c.76549A>C (p.Arg25517=)
|
rs780584058
|
|
|
NM_001267550.2(TTN):c.76557C>A (p.Ile25519=)
|
|
|
|
NM_001267550.2(TTN):c.76563T>C (p.Asn25521=)
|
rs2154167890
|
|
|
NM_001267550.2(TTN):c.76566A>T (p.Ile25522=)
|
rs1390057481
|
|
|
NM_001267550.2(TTN):c.76590A>G (p.Leu25530=)
|
rs184034300
|
|
|
NM_001267550.2(TTN):c.76607G>T (p.Gly25536Val)
|
rs1021201663
|
|
|
NM_001267550.2(TTN):c.76647T>C (p.Gly25549=)
|
|
|
|
NM_001267550.2(TTN):c.7666C>T (p.Leu2556=)
|
rs1554000213
|
|
|
NM_001267550.2(TTN):c.7668G>T (p.Leu2556=)
|
rs2154344543
|
|
|
NM_001267550.2(TTN):c.76707C>A (p.Asp25569Glu)
|
rs1002726225
|
|
|
NM_001267550.2(TTN):c.76711G>A (p.Val25571Ile)
|
rs760782774
|
|
|
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter)
|
rs767450912
|
|
|
NM_001267550.2(TTN):c.76721dup (p.Tyr25574Ter)
|
|
|
|
NM_001267550.2(TTN):c.76722T>A (p.Tyr25574Ter)
|
rs55696153
|
|
|
NM_001267550.2(TTN):c.76724_76727dup (p.Ser25576delinsArgTer)
|
rs2154167762
|
|
|
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter)
|
rs1707280155
|
|
|
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys)
|
rs56372592
|
|
|
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met)
|
rs56372592
|
|
|
NM_001267550.2(TTN):c.76743dup (p.Thr25582fs)
|
rs2154167743
|
|
|
NM_001267550.2(TTN):c.76746A>G (p.Thr25582=)
|
|
|
|
NM_001267550.2(TTN):c.76748del (p.Thr25582_Leu25583insTer)
|
|
|
|
NM_001267550.2(TTN):c.76788G>T (p.Val25596=)
|
|
|
|
NM_001267550.2(TTN):c.76800C>T (p.Asp25600=)
|
rs1431857155
|
|
|
NM_001267550.2(TTN):c.76802C>T (p.Thr25601Met)
|
rs374913031
|
|
|
NM_001267550.2(TTN):c.76803G>A (p.Thr25601=)
|
rs751627427
|
|
|
NM_001267550.2(TTN):c.76803G>C (p.Thr25601=)
|
rs751627427
|
|
|
NM_001267550.2(TTN):c.76807dup (p.Ser25603fs)
|
rs2154167705
|
|
|
NM_001267550.2(TTN):c.76833A>T (p.Thr25611=)
|
|
|
|
NM_001267550.2(TTN):c.76838T>A (p.Ile25613Asn)
|
rs1553601096
|
|
|
NM_001267550.2(TTN):c.76846_76847del (p.Asp25616fs)
|
rs1559378965
|
|
|
NM_001267550.2(TTN):c.76851A>C (p.Ser25617=)
|
|
|
|
NM_001267550.2(TTN):c.76851A>G (p.Ser25617=)
|
|
|
|
NM_001267550.2(TTN):c.76858A>G (p.Ile25620Val)
|
rs773656560
|
|
|
NM_001267550.2(TTN):c.76860T>C (p.Ile25620=)
|
|
|
|
NM_001267550.2(TTN):c.76863A>C (p.Thr25621=)
|
|
|
|
NM_001267550.2(TTN):c.76863A>T (p.Thr25621=)
|
rs2154167646
|
|
|
NM_001267550.2(TTN):c.76865G>A (p.Trp25622Ter)
|
rs756552975
|
|
|
NM_001267550.2(TTN):c.76878G>A (p.Leu25626=)
|
|
|
|
NM_001267550.2(TTN):c.76884T>C (p.Asp25628=)
|
|
|
|
NM_001267550.2(TTN):c.7692G>A (p.Leu2564=)
|
|
|
|
NM_001267550.2(TTN):c.76931C>T (p.Thr25644Ile)
|
rs1060500456
|
|
|
NM_001267550.2(TTN):c.76932A>G (p.Thr25644=)
|
rs2154167606
|
|
|
NM_001267550.2(TTN):c.76945del (p.Ala25649fs)
|
rs1707205123
|
|
|
NM_001267550.2(TTN):c.76970del (p.Lys25657fs)
|
|
|
|
NM_001267550.2(TTN):c.76970dup (p.Asn25658fs)
|
|
|
|
NM_001267550.2(TTN):c.76977T>C (p.Ser25659=)
|
rs1575718147
|
|
|
NM_001267550.2(TTN):c.76981A>G (p.Lys25661Glu)
|
rs1553600919
|
|
|
NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter)
|
|
|
|
NM_001267550.2(TTN):c.76995C>G (p.Leu25665=)
|
|
|
|
NM_001267550.2(TTN):c.77007C>T (p.Cys25669=)
|
rs2154167540
|
|
|
NM_001267550.2(TTN):c.77013T>C (p.Tyr25671=)
|
rs397517707
|
|
|
NM_001267550.2(TTN):c.77014dup (p.Tyr25672fs)
|
rs2154167532
|
|
|
NM_001267550.2(TTN):c.77019T>C (p.Phe25673=)
|
|
|
|
NM_001267550.2(TTN):c.77025C>A (p.Val25675=)
|
|
|
|
NM_001267550.2(TTN):c.77026del (p.Thr25676fs)
|
rs2154167529
|
|
|
NM_001267550.2(TTN):c.77028A>G (p.Thr25676=)
|
rs2154167527
|
|
|
NM_001267550.2(TTN):c.77031T>C (p.Ala25677=)
|
|
|
|
NM_001267550.2(TTN):c.77046dup (p.Ile25683fs)
|
|
|
|
NM_001267550.2(TTN):c.7704G>A (p.Lys2568=)
|
|
|
|
NM_001267550.2(TTN):c.77088A>G (p.Ala25696=)
|
|
|
|
NM_001267550.2(TTN):c.77094G>C (p.Val25698=)
|
|
|
|
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs)
|
rs794729343
|
|
|
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs)
|
|
|
|
NM_001267550.2(TTN):c.77133C>T (p.Thr25711=)
|
|
|
|
NM_001267550.2(TTN):c.77145C>G (p.Val25715=)
|
|
|
|
NM_001267550.2(TTN):c.77147_77150del (p.Val25715_Ser25716insTer)
|
rs1466647934
|
|
|
NM_001267550.2(TTN):c.77149C>T (p.Leu25717=)
|
|
|
|
NM_001267550.2(TTN):c.77157G>A (p.Trp25719Ter)
|
rs1707088255
|
|
|
NM_001267550.2(TTN):c.77177del (p.Gly25726fs)
|
rs794729344
|
|
|
NM_001267550.2(TTN):c.77182A>G (p.Ser25728Gly)
|
rs1306199809
|
|
|
NM_001267550.2(TTN):c.77190C>A (p.Ile25730=)
|
rs2154167385
|
|
|
NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter)
|
rs765997807
|
|
|
NM_001267550.2(TTN):c.77248C>A (p.Arg25750=)
|
rs1575714442
|
|
|
NM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter)
|
rs1575714442
|
|
|
NM_001267550.2(TTN):c.77260C>A (p.Leu25754Ile)
|
|
|
|
NM_001267550.2(TTN):c.77263C>T (p.Gln25755Ter)
|
rs2154167332
|
|
|
NM_001267550.2(TTN):c.77283A>G (p.Leu25761=)
|
|
|
|
NM_001267550.2(TTN):c.77299dup (p.Tyr25767fs)
|
|
|
|
NM_001267550.2(TTN):c.77302C>A (p.Leu25768Ile)
|
rs541266544
|
|
|
NM_001267550.2(TTN):c.7731A>G (p.Lys2577=)
|
|
|
|
NM_001267550.2(TTN):c.77326G>T (p.Glu25776Ter)
|
rs1553600058
|
|
|
NM_001267550.2(TTN):c.77337A>G (p.Arg25779=)
|
rs1268101824
|
|
|
NM_001267550.2(TTN):c.7734T>C (p.Tyr2578=)
|
rs2154344511
|
|
|
NM_001267550.2(TTN):c.77365A>T (p.Ile25789Leu)
|
rs1253687329
|
|
|
NM_001267550.2(TTN):c.77373C>A (p.Ala25791=)
|
|
|
|
NM_001267550.2(TTN):c.77397T>C (p.Asp25799=)
|
rs2154167217
|
|
|
NM_001267550.2(TTN):c.77404_77405insA (p.Pro25802fs)
|
|
|
|
NM_001267550.2(TTN):c.77424T>C (p.Ser25808=)
|
|
|
|
NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter)
|
rs794729287
|
|
|
NM_001267550.2(TTN):c.7744G>A (p.Ala2582Thr)
|
rs1060500576
|
|
|
NM_001267550.2(TTN):c.77452del (p.Glu25818fs)
|
|
|
|
NM_001267550.2(TTN):c.77460A>C (p.Pro25820=)
|
rs576663532
|
|
|
NM_001267550.2(TTN):c.7746A>G (p.Ala2582=)
|
rs2154344503
|
|
|
NM_001267550.2(TTN):c.77472T>A (p.Arg25824=)
|
rs753382360
|
|
|
NM_001267550.2(TTN):c.77484C>A (p.Thr25828=)
|
rs2154167156
|
|
|
NM_001267550.2(TTN):c.77510del (p.Pro25837fs)
|
|
|
|
NM_001267550.2(TTN):c.77511A>G (p.Pro25837=)
|
rs371581948
|
|
|
NM_001267550.2(TTN):c.77523C>T (p.Thr25841=)
|
rs1223149453
|
|
|
NM_001267550.2(TTN):c.77535T>C (p.Asn25845=)
|
|
|
|
NM_001267550.2(TTN):c.77541C>G (p.Thr25847=)
|
|
|
|
NM_001267550.2(TTN):c.77546C>G (p.Ser25849Ter)
|
|
|
|
NM_001267550.2(TTN):c.77556C>T (p.Leu25852=)
|
rs2154167109
|
|
|
NM_001267550.2(TTN):c.77565C>T (p.Leu25855=)
|
rs1231044812
|
|
|
NM_001267550.2(TTN):c.7756dup (p.Ile2586fs)
|
rs1553999983
|
|
|
NM_001267550.2(TTN):c.77571T>C (p.Ile25857=)
|
rs879135756
|
|
|
NM_001267550.2(TTN):c.77605G>T (p.Gly25869Ter)
|
|
|
|
NM_001267550.2(TTN):c.77610del (p.Thr25871fs)
|
rs1706840484
|
|
|
NM_001267550.2(TTN):c.7761T>C (p.Tyr2587=)
|
|
|
|
NM_001267550.2(TTN):c.7762A>T (p.Lys2588Ter)
|
rs1553999955
|
|
|
NM_001267550.2(TTN):c.77640A>T (p.Thr25880=)
|
rs1471116492
|
|
|
NM_001267550.2(TTN):c.77646C>A (p.Ser25882=)
|
rs901702412
|
|
|
NM_001267550.2(TTN):c.77646del (p.Ile25883fs)
|
rs2154167034
|
|
|
NM_001267550.2(TTN):c.7764A>G (p.Lys2588=)
|
rs1361032185
|
|
|
NM_001267550.2(TTN):c.77658A>G (p.Val25886=)
|
|
|
|
NM_001267550.2(TTN):c.77664A>G (p.Leu25888=)
|
|
|
|
NM_001267550.2(TTN):c.77673T>A (p.Pro25891=)
|
rs2154167010
|
|
|
NM_001267550.2(TTN):c.7767G>A (p.Leu2589=)
|
|
|
|
NM_001267550.2(TTN):c.77691T>C (p.Pro25897=)
|
rs2154166993
|
|
|
NM_001267550.2(TTN):c.77703T>C (p.Asp25901=)
|
|
|
|
NM_001267550.2(TTN):c.77727A>G (p.Thr25909=)
|
rs775905241
|
|
|
NM_001267550.2(TTN):c.77727A>T (p.Thr25909=)
|
|
|
|
NM_001267550.2(TTN):c.77746T>C (p.Leu25916=)
|
rs1243488306
|
|
|
NM_001267550.2(TTN):c.77751T>A (p.Tyr25917Ter)
|
|
|
|
NM_001267550.2(TTN):c.77757G>T (p.Gly25919=)
|
rs2154166947
|
|
|
NM_001267550.2(TTN):c.77772C>T (p.Thr25924=)
|
rs727505107
|
|
|
NM_001267550.2(TTN):c.77781T>A (p.Ile25927=)
|
|
|
|
NM_001267550.2(TTN):c.77785C>T (p.Gln25929Ter)
|
|
|
|
NM_001267550.2(TTN):c.777G>A (p.Pro259=)
|
|
|
|
NM_001267550.2(TTN):c.77802C>A (p.Thr25934=)
|
|
|
|
NM_001267550.2(TTN):c.77802C>T (p.Thr25934=)
|
rs1575706418
|
|
|
NM_001267550.2(TTN):c.77805C>T (p.Thr25935=)
|
|
|
|
NM_001267550.2(TTN):c.77817T>C (p.Asp25939=)
|
rs752754298
|
|
|
NM_001267550.2(TTN):c.77843del (p.Thr25948fs)
|
|
|
|
NM_001267550.2(TTN):c.77847A>C (p.Thr25949=)
|
rs2154166864
|
|
|
NM_001267550.2(TTN):c.77853del (p.Lys25951_Val25952insTer)
|
|
|
|
NM_001267550.2(TTN):c.77884del (p.Gln25962fs)
|
|
|
|
NM_001267550.2(TTN):c.7789G>T (p.Asp2597Tyr)
|
rs1553999887
|
|
|
NM_001267550.2(TTN):c.77902G>T (p.Glu25968Ter)
|
|
|
|
NM_001267550.2(TTN):c.77906dup (p.Asn25969fs)
|
rs1559368995
|
|
|
NM_001267550.2(TTN):c.77907_77908del (p.Asn25969fs)
|
rs2154166826
|
|
|
NM_001267550.2(TTN):c.77910A>G (p.Arg25970=)
|
|
|
|
NM_001267550.2(TTN):c.77933_77951del (p.Glu25978fs)
|
rs1553597801
|
|
|
NM_001267550.2(TTN):c.77970A>G (p.Glu25990=)
|
rs532095547
|
|
|
NM_001267550.2(TTN):c.77976C>A (p.Gly25992=)
|
rs2154166787
|
|
|
NM_001267550.2(TTN):c.78006_78020del (p.Ile26002_Ser26006del)
|
rs1064792913
|
|
|
NM_001267550.2(TTN):c.78024C>A (p.Val26008=)
|
|
|
|
NM_001267550.2(TTN):c.78030G>A (p.Gln26010=)
|
rs2154166749
|
|
|
NM_001267550.2(TTN):c.78045C>T (p.Val26015=)
|
|
|
|
NM_001267550.2(TTN):c.78054T>A (p.Gly26018=)
|
rs2154166736
|
|
|
NM_001267550.2(TTN):c.78057A>T (p.Gly26019=)
|
rs2154166734
|
|
|
NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr)
|
rs572384303
|
|
|
NM_001267550.2(TTN):c.78075C>A (p.Tyr26025Ter)
|
rs1553597198
|
|
|
NM_001267550.2(TTN):c.78078C>T (p.His26026=)
|
rs1353297321
|
|
|
NM_001267550.2(TTN):c.78095_78098del (p.Arg26032fs)
|
rs869312117
|
|
|
NM_001267550.2(TTN):c.78097_78098del (p.Asn26033fs)
|
|
|
|
NM_001267550.2(TTN):c.780G>A (p.Lys260=)
|
|
|
|
NM_001267550.2(TTN):c.78108G>A (p.Leu26036=)
|
rs904868866
|
|
|
NM_001267550.2(TTN):c.78110G>A (p.Trp26037Ter)
|
|
|
|
NM_001267550.2(TTN):c.78118G>A (p.Val26040Ile)
|
rs576341346
|
|
|
NM_001267550.2(TTN):c.7813del (p.Tyr2605fs)
|
rs2154344465
|
|
|
NM_001267550.2(TTN):c.78144C>T (p.Thr26048=)
|
rs1052638802
|
|
|
NM_001267550.2(TTN):c.78150C>T (p.Phe26050=)
|
rs906664730
|
|
|
NM_001267550.2(TTN):c.78153del (p.Ala26052fs)
|
rs2154166670
|
|
|
NM_001267550.2(TTN):c.78156A>G (p.Ala26052=)
|
rs2154166667
|
|
|
NM_001267550.2(TTN):c.78159G>A (p.Gln26053=)
|
rs1475071129
|
|
|
NM_001267550.2(TTN):c.78174C>A (p.Gly26058=)
|
|
|
|
NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter)
|
rs869312057
|
|
|
NM_001267550.2(TTN):c.78192_78193del (p.Arg26064fs)
|
|
|
|
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter)
|
rs1553596594
|
|
|
NM_001267550.2(TTN):c.78207T>C (p.Asn26069=)
|
rs2154166637
|
|
|
NM_001267550.2(TTN):c.78216T>C (p.Gly26072=)
|
rs2154166622
|
|
|
NM_001267550.2(TTN):c.78219A>G (p.Val26073=)
|
|
|
|
NM_001267550.2(TTN):c.78231_78234del (p.Ser26077fs)
|
|
|
|
NM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter)
|
rs747203787
|
|
|
NM_001267550.2(TTN):c.78255C>T (p.Ala26085=)
|
|
|
|
NM_001267550.2(TTN):c.78278_78279del (p.Gly26093fs)
|
|
|
|
NM_001267550.2(TTN):c.78279A>G (p.Gly26093=)
|
rs754287856
|
|
|
NM_001267550.2(TTN):c.78282C>T (p.Thr26094=)
|
|
|
|
NM_001267550.2(TTN):c.78318T>C (p.Thr26106=)
|
rs1553595901
|
|
|
NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter)
|
rs1559364892
|
|
|
NM_001267550.2(TTN):c.78342T>G (p.Tyr26114Ter)
|
rs2154166540
|
|
|
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)
|
|
|
|
NM_001267550.2(TTN):c.78370A>G (p.Ile26124Val)
|
rs397517713
|
|
|
NM_001267550.2(TTN):c.78371T>A (p.Ile26124Asn)
|
rs778290450
|
|
|
NM_001267550.2(TTN):c.78399T>C (p.Gly26133=)
|
rs2154166484
|
|
|
NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter)
|
rs1064793668
|
|
|
NM_001267550.2(TTN):c.78423A>C (p.Thr26141=)
|
rs1390162762
|
|
|
NM_001267550.2(TTN):c.78447T>C (p.Thr26149=)
|
rs770182488
|
|
|
NM_001267550.2(TTN):c.78459T>C (p.Leu26153=)
|
|
|
|
NM_001267550.2(TTN):c.78466G>T (p.Asp26156Tyr)
|
rs1553595170
|
|
|
NM_001267550.2(TTN):c.7846dup (p.Thr2616fs)
|
rs2154344443
|
|
|
NM_001267550.2(TTN):c.78477T>C (p.Tyr26159=)
|
rs371799242
|
|
|
NM_001267550.2(TTN):c.78480A>G (p.Glu26160=)
|
|
|
|
NM_001267550.2(TTN):c.78486A>G (p.Arg26162=)
|
rs1706400890
|
|
|
NM_001267550.2(TTN):c.78489C>A (p.Val26163=)
|
|
|
|
NM_001267550.2(TTN):c.78522A>G (p.Lys26174=)
|
rs2154166400
|
|
|
NM_001267550.2(TTN):c.78531C>T (p.Asp26177=)
|
rs1575697404
|
|
|
NM_001267550.2(TTN):c.78540A>C (p.Gly26180=)
|
rs1553594926
|
|
|
NM_001267550.2(TTN):c.78541C>T (p.Pro26181Ser)
|
rs1553594900
|
|
|
NM_001267550.2(TTN):c.7855+5G>C
|
|
|
|
NM_001267550.2(TTN):c.78555G>A (p.Lys26185=)
|
|
|
|
NM_001267550.2(TTN):c.7855G>A (p.Gly2619Ser)
|
|
|
|
NM_001267550.2(TTN):c.7856-14C>T
|
|
|
|
NM_001267550.2(TTN):c.7856-17C>T
|
|
|
|
NM_001267550.2(TTN):c.7856-18A>G
|
|
|
|
NM_001267550.2(TTN):c.7856-19T>C
|
|
|
|
NM_001267550.2(TTN):c.7856-1G>T
|
rs2154343384
|
|
|
NM_001267550.2(TTN):c.7856-22_7856-17del
|
rs2154343397
|
|
|
NM_001267550.2(TTN):c.7856-7T>C
|
|
|
|
NM_001267550.2(TTN):c.78561G>A (p.Glu26187=)
|
|
|
|
NM_001267550.2(TTN):c.7857T>C (p.Gly2619=)
|
|
|
|
NM_001267550.2(TTN):c.78634A>T (p.Arg26212Ter)
|
rs1559362000
|
|
|
NM_001267550.2(TTN):c.78637C>T (p.Leu26213Phe)
|
rs1553594441
|
|
|
NM_001267550.2(TTN):c.78642G>A (p.Glu26214=)
|
rs1553594406
|
|
|
NM_001267550.2(TTN):c.78651C>T (p.Val26217=)
|
|
|
|
NM_001267550.2(TTN):c.78656del (p.Gly26219fs)
|
rs1706331057
|
|
|
NM_001267550.2(TTN):c.78669T>G (p.Pro26223=)
|
|
|
|
NM_001267550.2(TTN):c.78676G>C (p.Glu26226Gln)
|
rs754878387
|
|
|
NM_001267550.2(TTN):c.78689del (p.Gly26230fs)
|
rs2154166282
|
|
|
NM_001267550.2(TTN):c.78697G>T (p.Glu26233Ter)
|
rs267599036
|
|
|
NM_001267550.2(TTN):c.78707A>T (p.Glu26236Val)
|
rs1559361218
|
|
|
NM_001267550.2(TTN):c.78708A>G (p.Glu26236=)
|
rs1575695259
|
|
|
NM_001267550.2(TTN):c.78711T>A (p.Ser26237=)
|
rs727504808
|
|
|
NM_001267550.2(TTN):c.78711T>G (p.Ser26237=)
|
rs727504808
|
|
|
NM_001267550.2(TTN):c.78720T>C (p.Cys26240=)
|
rs974227290
|
|
|
NM_001267550.2(TTN):c.78749del (p.Leu26250fs)
|
rs1064793285
|
|
|
NM_001267550.2(TTN):c.78762A>G (p.Lys26254=)
|
|
|
|
NM_001267550.2(TTN):c.78777T>C (p.Ile26259=)
|
|
|
|
NM_001267550.2(TTN):c.78786G>A (p.Gly26262=)
|
|
|
|
NM_001267550.2(TTN):c.7878C>G (p.Leu2626=)
|
|
|
|
NM_001267550.2(TTN):c.78801A>G (p.Arg26267=)
|
rs1373203200
|
|
|
NM_001267550.2(TTN):c.78816A>G (p.Ala26272=)
|
rs768044952
|
|
|
NM_001267550.2(TTN):c.78828A>G (p.Ser26276=)
|
|
|
|
NM_001267550.2(TTN):c.78834A>C (p.Pro26278=)
|
rs2154166193
|
|
|
NM_001267550.2(TTN):c.78837A>G (p.Val26279=)
|
rs777343548
|
|
|
NM_001267550.2(TTN):c.78849A>G (p.Val26283=)
|
|
|
|
NM_001267550.2(TTN):c.78855_78858del (p.Arg26286fs)
|
rs794729346
|
|
|
NM_001267550.2(TTN):c.78861_78864del (p.Gly26288fs)
|
|
|
|
NM_001267550.2(TTN):c.78870A>T (p.Pro26290=)
|
rs1170304123
|
|
|
NM_001267550.2(TTN):c.78873A>G (p.Glu26291=)
|
|
|
|
NM_001267550.2(TTN):c.78876G>T (p.Gly26292=)
|
|
|
|
NM_001267550.2(TTN):c.78879A>T (p.Pro26293=)
|
|
|
|
NM_001267550.2(TTN):c.78891T>C (p.Thr26297=)
|
rs751434489
|
|
|
NM_001267550.2(TTN):c.7890C>T (p.Thr2630=)
|
rs144247127
|
|
|
NM_001267550.2(TTN):c.78924G>A (p.Trp26308Ter)
|
|
|
|
NM_001267550.2(TTN):c.78972T>C (p.Val26324=)
|
|
|
|
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter)
|
rs779996703
|
|
|
NM_001267550.2(TTN):c.79006dup (p.Val26336fs)
|
|
|
|
NM_001267550.2(TTN):c.79016C>A (p.Ser26339Ter)
|
|
|
|
NM_001267550.2(TTN):c.79026G>A (p.Val26342=)
|
rs1559358175
|
|
|
NM_001267550.2(TTN):c.7902C>A (p.Ser2634=)
|
rs1553997365
|
|
|
NM_001267550.2(TTN):c.79032T>C (p.Asn26344=)
|
rs2154166066
|
|
|
NM_001267550.2(TTN):c.79041del (p.Val26348fs)
|
rs1706189208
|
|
|
NM_001267550.2(TTN):c.7906G>T (p.Glu2636Ter)
|
|
|
|
NM_001267550.2(TTN):c.79071T>C (p.Tyr26357=)
|
rs2154166032
|
|
|
NM_001267550.2(TTN):c.79101T>C (p.Tyr26367=)
|
rs1057522307
|
|
|
NM_001267550.2(TTN):c.79107T>C (p.Val26369=)
|
|
|
|
NM_001267550.2(TTN):c.79128A>G (p.Ala26376=)
|
|
|
|
NM_001267550.2(TTN):c.79137A>T (p.Leu26379=)
|
|
|
|
NM_001267550.2(TTN):c.79137_79138dup (p.Met26380fs)
|
rs2154165980
|
|
|
NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter)
|
rs1131691944
|
|
|
NM_001267550.2(TTN):c.7914G>C (p.Val2638=)
|
rs770287473
|
|
|
NM_001267550.2(TTN):c.79175del (p.Ser26392fs)
|
rs1706104379
|
|
|
NM_001267550.2(TTN):c.79185_79186insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGCTTGGAAGTC (p.Val26395_Thr26396insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysSerLeuGluVal)
|
|
|
|
NM_001267550.2(TTN):c.79199_79200del (p.Lys26400fs)
|
rs2154165935
|
|
|
NM_001267550.2(TTN):c.79203C>T (p.Asp26401=)
|
rs1022970267
|
|
|
NM_001267550.2(TTN):c.79233T>C (p.Asp26411=)
|
|
|
|
NM_001267550.2(TTN):c.79239T>C (p.Asp26413=)
|
rs2154165906
|
|
|
NM_001267550.2(TTN):c.79254T>C (p.Ile26418=)
|
|
|
|
NM_001267550.2(TTN):c.79264A>C (p.Ile26422Leu)
|
rs1553590996
|
|
|
NM_001267550.2(TTN):c.79266T>C (p.Ile26422=)
|
rs1706067080
|
|
|
NM_001267550.2(TTN):c.79273A>T (p.Lys26425Ter)
|
rs1706063163
|
|
|
NM_001267550.2(TTN):c.79278del (p.Asp26427fs)
|
rs1064796574
|
|
|
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter)
|
rs774411587
|
|
|
NM_001267550.2(TTN):c.79298G>A (p.Trp26433Ter)
|
rs1559355268
|
|
|
NM_001267550.2(TTN):c.79305del (p.Lys26435fs)
|
rs2154165874
|
|
|
NM_001267550.2(TTN):c.79326A>G (p.Thr26442=)
|
rs768851060
|
|
|
NM_001267550.2(TTN):c.79329T>C (p.Asp26443=)
|
rs372127556
|
|
|
NM_001267550.2(TTN):c.79333C>T (p.Arg26445Cys)
|
rs780658084
|
|
|
NM_001267550.2(TTN):c.79335T>C (p.Arg26445=)
|
|
|
|
NM_001267550.2(TTN):c.7935C>T (p.Asn2645=)
|
|
|
|
NM_001267550.2(TTN):c.79365T>C (p.His26455=)
|
rs1060503925
|
|
|
NM_001267550.2(TTN):c.79368_79369del (p.Glu26456_Tyr26457insTer)
|
|
|
|
NM_001267550.2(TTN):c.79371T>A (p.Tyr26457Ter)
|
rs1706021639
|
|
|
NM_001267550.2(TTN):c.79427_79428dup (p.Val26477fs)
|
|
|
|
NM_001267550.2(TTN):c.79449T>C (p.Asp26483=)
|
|
|
|
NM_001267550.2(TTN):c.79467C>T (p.Gly26489=)
|
|
|
|
NM_001267550.2(TTN):c.79482A>G (p.Ala26494=)
|
rs1350090724
|
|
|
NM_001267550.2(TTN):c.79491A>G (p.Val26497=)
|
rs2154165749
|
|
|
NM_001267550.2(TTN):c.79497C>A (p.Thr26499=)
|
rs2154165738
|
|
|
NM_001267550.2(TTN):c.79523G>A (p.Trp26508Ter)
|
|
|
|
NM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter)
|
rs1575685597
|
|
|
NM_001267550.2(TTN):c.7953A>G (p.Glu2651=)
|
rs2154343335
|
|
|
NM_001267550.2(TTN):c.79542T>C (p.Asp26514=)
|
rs1553589231
|
|
|
NM_001267550.2(TTN):c.7955G>A (p.Trp2652Ter)
|
rs1574584676
|
|
|
NM_001267550.2(TTN):c.79569A>G (p.Val26523=)
|
|
|
|
NM_001267550.2(TTN):c.79578C>T (p.Ile26526=)
|
rs1178817671
|
|
|
NM_001267550.2(TTN):c.7959G>A (p.Leu2653=)
|
|
|
|
NM_001267550.2(TTN):c.79602G>A (p.Trp26534Ter)
|
|
|
|
NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter)
|
rs1064793911
|
|
|
NM_001267550.2(TTN):c.79608A>T (p.Ile26536=)
|
rs2154165655
|
|
|
NM_001267550.2(TTN):c.79614T>G (p.Thr26538=)
|
rs2154165640
|
|
|
NM_001267550.2(TTN):c.79629G>T (p.Leu26543=)
|
rs2154165628
|
|
|
NM_001267550.2(TTN):c.79638T>C (p.Thr26546=)
|
rs1382501215
|
|
|
NM_001267550.2(TTN):c.79639C>A (p.Arg26547=)
|
rs2154165620
|
|
|
NM_001267550.2(TTN):c.79639C>T (p.Arg26547Ter)
|
|
|
|
NM_001267550.2(TTN):c.79645G>C (p.Glu26549Gln)
|
rs1705910626
|
|
|
NM_001267550.2(TTN):c.79653A>G (p.Ser26551=)
|
rs2154165615
|
|
|
NM_001267550.2(TTN):c.79662T>C (p.Thr26554=)
|
rs1575684079
|
|
|
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)
|
rs869025545
|
|
|
NM_001267550.2(TTN):c.79687dup (p.Val26563fs)
|
|
|
|
NM_001267550.2(TTN):c.79695C>T (p.Ala26565=)
|
rs1575683593
|
|
|
NM_001267550.2(TTN):c.79716T>C (p.Gly26572=)
|
rs2154165551
|
|
|
NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter)
|
rs1705879851
|
|
|
NM_001267550.2(TTN):c.79734T>C (p.Pro26578=)
|
|
|
|
NM_001267550.2(TTN):c.7974C>T (p.His2658=)
|
|
|
|
NM_001267550.2(TTN):c.79785C>T (p.Asp26595=)
|
rs1553587704
|
|
|
NM_001267550.2(TTN):c.79792T>C (p.Leu26598=)
|
rs2154165510
|
|
|
NM_001267550.2(TTN):c.79793T>G (p.Leu26598Ter)
|
rs1064794023
|
|
|
NM_001267550.2(TTN):c.79797_79822dup (p.Gly26608delinsGluLysGluLeuLeuTer)
|
rs2154165475
|
|
|
NM_001267550.2(TTN):c.79801G>T (p.Gly26601Ter)
|
rs773632027
|
|
|
NM_001267550.2(TTN):c.79806T>A (p.Ile26602=)
|
|
|
|
NM_001267550.2(TTN):c.79806T>C (p.Ile26602=)
|
rs770125328
|
|
|
NM_001267550.2(TTN):c.79806_79809del (p.Ile26602fs)
|
rs794729347
|
|
|
NM_001267550.2(TTN):c.79809T>C (p.Val26603=)
|
rs1398566946
|
|
|
NM_001267550.2(TTN):c.79844_79848del (p.Pro26615fs)
|
|
|
|
NM_001267550.2(TTN):c.79861_79862inv (p.Thr26621Val)
|
|
|
|
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys)
|
rs3731746
|
|
|
NM_001267550.2(TTN):c.7986T>A (p.Thr2662=)
|
rs2154343329
|
|
|
NM_001267550.2(TTN):c.79878G>A (p.Trp26626Ter)
|
rs1705798888
|
|
|
NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln)
|
rs201091376
|
|
|
NM_001267550.2(TTN):c.79902A>C (p.Thr26634=)
|
|
|
|
NM_001267550.2(TTN):c.79912C>T (p.Gln26638Ter)
|
rs1705781269
|
|
|
NM_001267550.2(TTN):c.79917del (p.Ile26639fs)
|
rs1705777731
|
|
|
NM_001267550.2(TTN):c.79924G>T (p.Gly26642Ter)
|
|
|
|
NM_001267550.2(TTN):c.79962T>C (p.Asp26654=)
|
|
|
|
NM_001267550.2(TTN):c.79968T>C (p.Asn26656=)
|
|
|
|
NM_001267550.2(TTN):c.79977A>C (p.Gly26659=)
|
|
|
|
NM_001267550.2(TTN):c.79983C>T (p.Tyr26661=)
|
rs1476923696
|
|
|
NM_001267550.2(TTN):c.79987_79989del (p.Leu26663del)
|
rs1193943076
|
|
|
NM_001267550.2(TTN):c.7999del (p.Ser2667fs)
|
|
|
|
NM_001267550.2(TTN):c.80000del (p.Asn26667fs)
|
|
|
|
NM_001267550.2(TTN):c.80025T>C (p.Phe26675=)
|
|
|
|
NM_001267550.2(TTN):c.80044_80047dup (p.Thr26683fs)
|
rs1553586069
|
|
|
NM_001267550.2(TTN):c.80046C>T (p.Asp26682=)
|
rs2154165320
|
|
|
NM_001267550.2(TTN):c.80068T>C (p.Leu26690=)
|
|
|
|
NM_001267550.2(TTN):c.80070G>A (p.Leu26690=)
|
|
|
|
NM_001267550.2(TTN):c.80082_80086del (p.Val26695fs)
|
rs2154165293
|
|
|
NM_001267550.2(TTN):c.80118A>G (p.Pro26706=)
|
|
|
|
NM_001267550.2(TTN):c.80125_80126dup (p.Asp26710fs)
|
rs1705700724
|
|
|
NM_001267550.2(TTN):c.80130T>C (p.Asp26710=)
|
rs2154165269
|
|
|
NM_001267550.2(TTN):c.80139A>G (p.Ala26713=)
|
|
|
|
NM_001267550.2(TTN):c.80157G>A (p.Val26719=)
|
|
|
|
NM_001267550.2(TTN):c.80159T>C (p.Ile26720Thr)
|
rs879183549
|
|
|
NM_001267550.2(TTN):c.80169dup (p.Glu26724Ter)
|
rs1705682545
|
|
|
NM_001267550.2(TTN):c.80174_80202dup (p.Ser26735delinsGlnProGluLysArgMetLeuMetTer)
|
rs2154165199
|
|
|
NM_001267550.2(TTN):c.80175A>G (p.Ser26725=)
|
|
|
|
NM_001267550.2(TTN):c.80187G>C (p.Ala26729=)
|
rs779833666
|
|
|
NM_001267550.2(TTN):c.801A>G (p.Thr267=)
|
rs1574979042
|
|
|
NM_001267550.2(TTN):c.80202T>C (p.Ser26734=)
|
|
|
|
NM_001267550.2(TTN):c.80205T>C (p.Ser26735=)
|
|
|
|
NM_001267550.2(TTN):c.80218del (p.Thr26740fs)
|
|
|
|
NM_001267550.2(TTN):c.80250A>G (p.Gly26750=)
|
rs943041818
|
|
|
NM_001267550.2(TTN):c.80253C>A (p.Ala26751=)
|
|
|
|
NM_001267550.2(TTN):c.80253C>T (p.Ala26751=)
|
|
|
|
NM_001267550.2(TTN):c.80259T>G (p.Tyr26753Ter)
|
rs895018646
|
|
|
NM_001267550.2(TTN):c.80268_80269del (p.Arg26756fs)
|
rs2154165154
|
|
|
NM_001267550.2(TTN):c.80298T>C (p.Gly26766=)
|
rs2154165127
|
|
|
NM_001267550.2(TTN):c.80304A>G (p.Pro26768=)
|
rs1575676334
|
|
|
NM_001267550.2(TTN):c.8031C>A (p.Ile2677=)
|
rs781305479
|
|
|
NM_001267550.2(TTN):c.80325G>A (p.Val26775=)
|
|
|
|
NM_001267550.2(TTN):c.80351C>G (p.Pro26784Arg)
|
rs1553584164
|
|
|
NM_001267550.2(TTN):c.80355A>G (p.Gly26785=)
|
|
|
|
NM_001267550.2(TTN):c.80361del (p.Thr26788fs)
|
|
|
|
NM_001267550.2(TTN):c.80367C>T (p.Leu26789=)
|
|
|
|
NM_001267550.2(TTN):c.80370T>C (p.Thr26790=)
|
|
|
|
NM_001267550.2(TTN):c.80376G>A (p.Val26792=)
|
|
|
|
NM_001267550.2(TTN):c.8037T>C (p.Ala2679=)
|
rs2154343302
|
|
|
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter)
|
rs2154165062
|
|
|
NM_001267550.2(TTN):c.80386del (p.Ser26796fs)
|
rs1651641615
|
|
|
NM_001267550.2(TTN):c.80391A>G (p.Ala26797=)
|
|
|
|
NM_001267550.2(TTN):c.80397T>C (p.Leu26799=)
|
|
|
|
NM_001267550.2(TTN):c.80405A>G (p.Glu26802Gly)
|
|
|
|
NM_001267550.2(TTN):c.80433A>G (p.Arg26811=)
|
|
|
|
NM_001267550.2(TTN):c.80439G>A (p.Leu26813=)
|
|
|
|
NM_001267550.2(TTN):c.8043C>T (p.Thr2681=)
|
rs776839697
|
|
|
NM_001267550.2(TTN):c.80445C>A (p.Tyr26815Ter)
|
rs759414143
|
|
|
NM_001267550.2(TTN):c.80451T>C (p.Val26817=)
|
|
|
|
NM_001267550.2(TTN):c.80458C>T (p.Gln26820Ter)
|
rs2154164995
|
|
|
NM_001267550.2(TTN):c.80459A>C (p.Gln26820Pro)
|
|
|
|
NM_001267550.2(TTN):c.80466dup (p.Gly26823fs)
|
|
|
|
NM_001267550.2(TTN):c.80472T>C (p.Thr26824=)
|
rs2154164985
|
|
|
NM_001267550.2(TTN):c.80478dup (p.Trp26827fs)
|
|
|
|
NM_001267550.2(TTN):c.804A>C (p.Pro268=)
|
|
|
|
NM_001267550.2(TTN):c.80520T>G (p.Val26840=)
|
|
|
|
NM_001267550.2(TTN):c.8052T>C (p.Asp2684=)
|
rs2154343299
|
|
|
NM_001267550.2(TTN):c.80539C>T (p.Gln26847Ter)
|
|
|
|
NM_001267550.2(TTN):c.80547T>A (p.Tyr26849Ter)
|
rs1575673206
|
|
|
NM_001267550.2(TTN):c.80547T>G (p.Tyr26849Ter)
|
rs1575673206
|
|
|
NM_001267550.2(TTN):c.80568T>A (p.Tyr26856Ter)
|
rs769878576
|
|
|
NM_001267550.2(TTN):c.80571T>C (p.Asn26857=)
|
rs2154164904
|
|
|
NM_001267550.2(TTN):c.80574G>A (p.Glu26858=)
|
|
|
|
NM_001267550.2(TTN):c.80578G>T (p.Gly26860Ter)
|
|
|
|
NM_001267550.2(TTN):c.80584del (p.Ser26862fs)
|
rs794729348
|
|
|
NM_001267550.2(TTN):c.80595A>G (p.Arg26865=)
|
rs878865997
|
|
|
NM_001267550.2(TTN):c.80622G>A (p.Lys26874=)
|
|
|
|
NM_001267550.2(TTN):c.80628G>A (p.Leu26876=)
|
|
|
|
NM_001267550.2(TTN):c.80635C>T (p.Gln26879Ter)
|
rs79926414
|
|
|
NM_001267550.2(TTN):c.80664A>G (p.Thr26888=)
|
|
|
|
NM_001267550.2(TTN):c.80666del (p.Tyr26889fs)
|
rs2154164836
|
|
|
NM_001267550.2(TTN):c.80667T>C (p.Tyr26889=)
|
|
|
|
NM_001267550.2(TTN):c.8067T>A (p.Tyr2689Ter)
|
|
|
|
NM_001267550.2(TTN):c.80736_80742del (p.Trp26913fs)
|
rs1575670635
|
|
|
NM_001267550.2(TTN):c.80740dup (p.Val26914fs)
|
rs2154164758
|
|
|
NM_001267550.2(TTN):c.80754G>A (p.Glu26918=)
|
|
|
|
NM_001267550.2(TTN):c.80762_80765del (p.Lys26921fs)
|
rs2154164725
|
|
|
NM_001267550.2(TTN):c.80772_80773del (p.Arg26925fs)
|
|
|
|
NM_001267550.2(TTN):c.80784T>G (p.Val26928=)
|
rs1705349276
|
|
|
NM_001267550.2(TTN):c.80792dup (p.Ala26932fs)
|
rs2154164664
|
|
|
NM_001267550.2(TTN):c.807G>C (p.Pro269=)
|
rs779966449
|
|
|
NM_001267550.2(TTN):c.807G>T (p.Pro269=)
|
|
|
|
NM_001267550.2(TTN):c.80801C>G (p.Ser26934Ter)
|
|
|
|
NM_001267550.2(TTN):c.80814C>T (p.His26938=)
|
|
|
|
NM_001267550.2(TTN):c.8082C>T (p.Ala2694=)
|
|
|
|
NM_001267550.2(TTN):c.80835T>C (p.Asp26945=)
|
rs2154164539
|
|
|
NM_001267550.2(TTN):c.80850C>A (p.Tyr26950Ter)
|
rs794729291
|
|
|
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter)
|
rs794729291
|
|
|
NM_001267550.2(TTN):c.80850C>T (p.Tyr26950=)
|
rs794729291
|
|
|
NM_001267550.2(TTN):c.80853C>T (p.Thr26951=)
|
|
|
|
NM_001267550.2(TTN):c.80876G>A (p.Gly26959Asp)
|
rs768259414
|
|
|
NM_001267550.2(TTN):c.80877C>T (p.Gly26959=)
|
|
|
|
NM_001267550.2(TTN):c.80892T>C (p.Asn26964=)
|
|
|
|
NM_001267550.2(TTN):c.80927_80928del (p.Pro26976fs)
|
rs2154164271
|
|
|
NM_001267550.2(TTN):c.80927del (p.Pro26976fs)
|
rs2154164277
|
|
|
NM_001267550.2(TTN):c.8092del (p.Thr2698fs)
|
rs2154343276
|
|
|
NM_001267550.2(TTN):c.80941C>A (p.Arg26981=)
|
rs779878975
|
|
|
NM_001267550.2(TTN):c.80943G>A (p.Arg26981=)
|
|
|
|
NM_001267550.2(TTN):c.80943dup (p.Phe26982fs)
|
|
|
|
NM_001267550.2(TTN):c.80950G>A (p.Glu26984Lys)
|
rs1060500562
|
|
|
NM_001267550.2(TTN):c.80950_80951del (p.Glu26984fs)
|
|
|
|
NM_001267550.2(TTN):c.80964C>T (p.Asp26988=)
|
rs755899399
|
|
|
NM_001267550.2(TTN):c.80973C>G (p.Val26991=)
|
|
|
|
NM_001267550.2(TTN):c.80975dup (p.Ser26993fs)
|
|
|
|
NM_001267550.2(TTN):c.80979T>A (p.Ser26993=)
|
|
|
|
NM_001267550.2(TTN):c.80994C>T (p.Ala26998=)
|
rs2154164114
|
|
|
NM_001267550.2(TTN):c.80997T>A (p.Tyr26999Ter)
|
|
|
|
NM_001267550.2(TTN):c.81000T>C (p.Thr27000=)
|
|
|
|
NM_001267550.2(TTN):c.81018C>T (p.Ser27006=)
|
|
|
|
NM_001267550.2(TTN):c.81022T>G (p.Tyr27008Asp)
|
rs72648211
|
|
|
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter)
|
rs869038795
|
|
|
NM_001267550.2(TTN):c.81059G>A (p.Trp27020Ter)
|
|
|
|
NM_001267550.2(TTN):c.81089CAA[1] (p.Thr27031del)
|
rs1163103954
|
|
|
NM_001267550.2(TTN):c.81096del (p.Lys27033_Ile27034insTer)
|
rs2154163856
|
|
|
NM_001267550.2(TTN):c.810T>C (p.Ser270=)
|
|
|
|
NM_001267550.2(TTN):c.81100_81103dup (p.Thr27035fs)
|
rs1060500593
|
|
|
NM_001267550.2(TTN):c.81117A>C (p.Thr27039=)
|
|
|
|
NM_001267550.2(TTN):c.81126del (p.Glu27042fs)
|
rs1553579429
|
|
|
NM_001267550.2(TTN):c.8116+10A>G
|
|
|
|
NM_001267550.2(TTN):c.8116+11T>C
|
|
|
|
NM_001267550.2(TTN):c.8116+13G>A
|
rs2154343257
|
|
|
NM_001267550.2(TTN):c.8116+19_8116+25del
|
rs749535927
|
|
|
NM_001267550.2(TTN):c.8116+5G>A
|
rs1561231691
|
|
|
NM_001267550.2(TTN):c.81162A>G (p.Gly27054=)
|
rs1553579246
|
|
|
NM_001267550.2(TTN):c.8117-20A>G
|
|
|
|
NM_001267550.2(TTN):c.8117-4T>C
|
rs2154342961
|
|
|
NM_001267550.2(TTN):c.81177G>A (p.Leu27059=)
|
rs2154163730
|
|
|
NM_001267550.2(TTN):c.81186G>A (p.Lys27062=)
|
|
|
|
NM_001267550.2(TTN):c.81192T>C (p.Val27064=)
|
|
|
|
NM_001267550.2(TTN):c.81199C>T (p.Gln27067Ter)
|
|
|
|
NM_001267550.2(TTN):c.81202del (p.Tyr27068fs)
|
rs794729394
|
|
|
NM_001267550.2(TTN):c.81227_81233del (p.Pro27076fs)
|
|
|
|
NM_001267550.2(TTN):c.81233C>A (p.Thr27078Asn)
|
rs1553578982
|
|
|
NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs)
|
rs749610641
|
|
|
NM_001267550.2(TTN):c.81249A>G (p.Ser27083=)
|
rs1553578905
|
|
|
NM_001267550.2(TTN):c.81254C>G (p.Ser27085Ter)
|
rs1705109191
|
|
|
NM_001267550.2(TTN):c.81259del (p.Asp27087fs)
|
rs2154163570
|
|
|
NM_001267550.2(TTN):c.81262_81269del (p.Gln27088fs)
|
rs869312059
|
|
|
NM_001267550.2(TTN):c.81273G>A (p.Val27091=)
|
rs780121454
|
|
|
NM_001267550.2(TTN):c.81281dup (p.His27094fs)
|
|
|
|
NM_001267550.2(TTN):c.81302G>A (p.Gly27101Asp)
|
rs201490050
|
|
|
NM_001267550.2(TTN):c.81315T>C (p.Ile27105=)
|
|
|
|
NM_001267550.2(TTN):c.81318C>G (p.Gly27106=)
|
|
|
|
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)
|
rs557312035
|
|
|
NM_001267550.2(TTN):c.81323del (p.His27108fs)
|
rs1575663530
|
|
|
NM_001267550.2(TTN):c.81324T>C (p.His27108=)
|
|
|
|
NM_001267550.2(TTN):c.81327T>C (p.Leu27109=)
|
|
|
|
NM_001267550.2(TTN):c.81337G>T (p.Glu27113Ter)
|
rs794729292
|
|
|
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs)
|
rs886038928
|
|
|
NM_001267550.2(TTN):c.81341del (p.Lys27114fs)
|
|
|
|
NM_001267550.2(TTN):c.81342G>A (p.Lys27114=)
|
|
|
|
NM_001267550.2(TTN):c.81354A>G (p.Leu27118=)
|
|
|
|
NM_001267550.2(TTN):c.81357G>A (p.Trp27119Ter)
|
|
|
|
NM_001267550.2(TTN):c.81372_81373del (p.Lys27124fs)
|
rs2154163297
|
|
|
NM_001267550.2(TTN):c.81379del (p.Ile27127fs)
|
rs2154163264
|
|
|
NM_001267550.2(TTN):c.8137_8138del (p.Leu2713fs)
|
|
|
|
NM_001267550.2(TTN):c.81381T>A (p.Ile27127=)
|
rs1553578131
|
|
|
NM_001267550.2(TTN):c.81387C>T (p.Asp27129=)
|
rs2154163220
|
|
|
NM_001267550.2(TTN):c.81389C>T (p.Thr27130Ile)
|
rs757768218
|
|
|
NM_001267550.2(TTN):c.81393A>G (p.Lys27131=)
|
rs374501251
|
|
|
NM_001267550.2(TTN):c.81402A>T (p.Thr27134=)
|
|
|
|
NM_001267550.2(TTN):c.81408G>A (p.Gly27136=)
|
|
|
|
NM_001267550.2(TTN):c.81411del (p.Asp27138fs)
|
rs2154163173
|
|
|
NM_001267550.2(TTN):c.81417G>A (p.Glu27139=)
|
|
|
|
NM_001267550.2(TTN):c.8142G>A (p.Lys2714=)
|
rs1574572433
|
|
|
NM_001267550.2(TTN):c.81432G>A (p.Glu27144=)
|
rs1060503944
|
|
|
NM_001267550.2(TTN):c.81453T>C (p.Asn27151=)
|
rs2154163084
|
|
|
NM_001267550.2(TTN):c.81455_81456del (p.Ile27152fs)
|
|
|
|
NM_001267550.2(TTN):c.81486A>G (p.Ser27162=)
|
|
|
|
NM_001267550.2(TTN):c.81504T>C (p.Arg27168=)
|
|
|
|
NM_001267550.2(TTN):c.81509C>T (p.Pro27170Leu)
|
rs774553407
|
|
|
NM_001267550.2(TTN):c.81510A>C (p.Pro27170=)
|
rs1704993259
|
|
|
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)
|
rs199726308
|
|
|
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)
|
rs397517721
|
|
|
NM_001267550.2(TTN):c.81557_81564del (p.Asn27186fs)
|
rs2154162877
|
|
|
NM_001267550.2(TTN):c.81561C>A (p.Val27187=)
|
rs923164775
|
|
|
NM_001267550.2(TTN):c.81561_81562insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAACAATGTC (p.Val27187_Thr27188insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysArgAsnAsnVal)
|
rs2154162886
|
|
|
NM_001267550.2(TTN):c.81565C>T (p.Leu27189=)
|
rs142391957
|
|
|
NM_001267550.2(TTN):c.81573del (p.Lys27190_Trp27191insTer)
|
rs2154162859
|
|
|
NM_001267550.2(TTN):c.81579A>G (p.Lys27193=)
|
rs565307960
|
|
|
NM_001267550.2(TTN):c.81588T>C (p.Tyr27196=)
|
|
|
|
NM_001267550.2(TTN):c.81600C>T (p.Ser27200=)
|
|
|
|
NM_001267550.2(TTN):c.81609A>G (p.Thr27203=)
|
rs1704949821
|
|
|
NM_001267550.2(TTN):c.81618T>C (p.Ile27206=)
|
rs781760454
|
|
|
NM_001267550.2(TTN):c.81618_86068del (p.Val27207fs)
|
|
|
|
NM_001267550.2(TTN):c.81629_81632del (p.Lys27210fs)
|
|
|
|
NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter)
|
rs1559330805
|
|
|
NM_001267550.2(TTN):c.81663C>T (p.Ser27221=)
|
rs1399668147
|
|
|
NM_001267550.2(TTN):c.81687A>G (p.Glu27229=)
|
rs1575659279
|
|
|
NM_001267550.2(TTN):c.81699T>C (p.Ser27233=)
|
|
|
|
NM_001267550.2(TTN):c.81711A>G (p.Glu27237=)
|
rs1553576452
|
|
|
NM_001267550.2(TTN):c.81718del (p.Arg27240fs)
|
rs1575658959
|
|
|
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)
|
rs769821404
|
|
|
NM_001267550.2(TTN):c.81729T>C (p.Phe27243=)
|
|
|
|
NM_001267550.2(TTN):c.81753T>A (p.Ala27251=)
|
rs780512171
|
|
|
NM_001267550.2(TTN):c.81753T>C (p.Ala27251=)
|
|
|
|
NM_001267550.2(TTN):c.81756A>C (p.Gly27252=)
|
rs2154162607
|
|
|
NM_001267550.2(TTN):c.81758del (p.Asn27253fs)
|
rs2154162603
|
|
|
NM_001267550.2(TTN):c.81762T>C (p.Phe27254=)
|
rs958378883
|
|
|
NM_001267550.2(TTN):c.81771A>G (p.Pro27257=)
|
|
|
|
NM_001267550.2(TTN):c.81774T>G (p.Ser27258=)
|
|
|
|
NM_001267550.2(TTN):c.81780T>C (p.Ser27260=)
|
rs1463389472
|
|
|
NM_001267550.2(TTN):c.81783T>C (p.Ser27261=)
|
rs2154162553
|
|
|
NM_001267550.2(TTN):c.8178C>T (p.Phe2726=)
|
rs148324011
|
|
|
NM_001267550.2(TTN):c.81801A>G (p.Arg27267=)
|
|
|
|
NM_001267550.2(TTN):c.81802del (p.Asp27268fs)
|
rs2154162514
|
|
|
NM_001267550.2(TTN):c.81804T>C (p.Asp27268=)
|
|
|
|
NM_001267550.2(TTN):c.81805G>T (p.Glu27269Ter)
|
|
|
|
NM_001267550.2(TTN):c.81810T>C (p.Ile27270=)
|
rs971963708
|
|
|
NM_001267550.2(TTN):c.8181T>C (p.Thr2727=)
|
|
|
|
NM_001267550.2(TTN):c.81843T>C (p.Tyr27281=)
|
rs2154162424
|
|
|
NM_001267550.2(TTN):c.81847_81850del (p.Asp27283fs)
|
|
|
|
NM_001267550.2(TTN):c.8184C>G (p.Val2728=)
|
rs753356474
|
|
|
NM_001267550.2(TTN):c.81867A>G (p.Ala27289=)
|
rs1258872669
|
|
|
NM_001267550.2(TTN):c.81875C>T (p.Thr27292Ile)
|
rs1060500393
|
|
|
NM_001267550.2(TTN):c.81879T>C (p.Phe27293=)
|
|
|
|
NM_001267550.2(TTN):c.81886del (p.Glu27296fs)
|
rs727503557
|
|
|
NM_001267550.2(TTN):c.81897C>A (p.Ile27299=)
|
|
|
|
NM_001267550.2(TTN):c.81909T>C (p.Pro27303=)
|
|
|
|
NM_001267550.2(TTN):c.81912_81919dup (p.Val27307fs)
|
|
|
|
NM_001267550.2(TTN):c.81915T>G (p.Pro27305=)
|
|
|
|
NM_001267550.2(TTN):c.81918T>C (p.Asp27306=)
|
rs764340182
|
|
|
NM_001267550.2(TTN):c.81921T>C (p.Val27307=)
|
|
|
|
NM_001267550.2(TTN):c.81936T>C (p.Asp27312=)
|
rs2154162187
|
|
|
NM_001267550.2(TTN):c.81942del (p.Glu27315fs)
|
|
|
|
NM_001267550.2(TTN):c.81943G>T (p.Glu27315Ter)
|
rs373533040
|
|
|
NM_001267550.2(TTN):c.81978A>G (p.Lys27326=)
|
rs2154162117
|
|
|
NM_001267550.2(TTN):c.81999T>C (p.Thr27333=)
|
|
|
|
NM_001267550.2(TTN):c.8199T>G (p.Pro2733=)
|
|
|
|
NM_001267550.2(TTN):c.81T>A (p.Ala27=)
|
rs1466566297
|
|
|
NM_001267550.2(TTN):c.82001_82002del (p.Leu27334fs)
|
rs1704746759
|
|
|
NM_001267550.2(TTN):c.82005T>C (p.Val27335=)
|
rs2154162061
|
|
|
NM_001267550.2(TTN):c.8202T>C (p.Asn2734=)
|
|
|
|
NM_001267550.2(TTN):c.82032A>T (p.Gly27344=)
|
rs2154162008
|
|
|
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter)
|
rs886042331
|
|
|
NM_001267550.2(TTN):c.82044del (p.Ile27348_Leu27349insTer)
|
|
|
|
NM_001267550.2(TTN):c.82065T>G (p.Gly27355=)
|
rs1457152868
|
|
|
NM_001267550.2(TTN):c.82086C>T (p.Ile27362=)
|
|
|
|
NM_001267550.2(TTN):c.82098A>C (p.Val27366=)
|
rs2154161892
|
|
|
NM_001267550.2(TTN):c.82113_82132dup (p.Lys27378delinsSerLeuLeuLysGlyLeuTer)
|
rs2154161823
|
|
|
NM_001267550.2(TTN):c.82122A>G (p.Glu27374=)
|
|
|
|
NM_001267550.2(TTN):c.82125G>A (p.Gly27375=)
|
|
|
|
NM_001267550.2(TTN):c.82125G>T (p.Gly27375=)
|
rs1020962821
|
|
|
NM_001267550.2(TTN):c.82128T>C (p.Pro27376=)
|
rs1704684126
|
|
|
NM_001267550.2(TTN):c.82129C>T (p.Leu27377=)
|
rs1422858793
|
|
|
NM_001267550.2(TTN):c.82131G>A (p.Leu27377=)
|
|
|
|
NM_001267550.2(TTN):c.82137T>A (p.Val27379=)
|
rs2154161815
|
|
|
NM_001267550.2(TTN):c.82140T>C (p.Thr27380=)
|
rs2154161809
|
|
|
NM_001267550.2(TTN):c.82167G>T (p.Leu27389=)
|
|
|
|
NM_001267550.2(TTN):c.82171T>C (p.Trp27391Arg)
|
rs778983249
|
|
|
NM_001267550.2(TTN):c.82172G>A (p.Trp27391Ter)
|
rs2154161781
|
|
|
NM_001267550.2(TTN):c.82186dup (p.Gln27396fs)
|
|
|
|
NM_001267550.2(TTN):c.82193G>A (p.Gly27398Asp)
|
rs1553574305
|
|
|
NM_001267550.2(TTN):c.82193del (p.Gly27398fs)
|
rs1064795346
|
|
|
NM_001267550.2(TTN):c.82208C>G (p.Ser27403Ter)
|
rs1704654934
|
|
|
NM_001267550.2(TTN):c.8220G>A (p.Trp2740Ter)
|
rs1553995639
|
|
|
NM_001267550.2(TTN):c.82215C>T (p.Tyr27405=)
|
rs2154161754
|
|
|
NM_001267550.2(TTN):c.82218C>T (p.Ile27406=)
|
|
|
|
NM_001267550.2(TTN):c.82226del (p.Lys27409fs)
|
rs1575653015
|
|
|
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys)
|
rs201489661
|
|
|
NM_001267550.2(TTN):c.82245C>A (p.Leu27415=)
|
rs1270012383
|
|
|
NM_001267550.2(TTN):c.82245C>T (p.Leu27415=)
|
rs1270012383
|
|
|
NM_001267550.2(TTN):c.82254C>T (p.Thr27418=)
|
rs763746509
|
|
|
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter)
|
rs2154161716
|
|
|
NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter)
|
rs371332011
|
|
|
NM_001267550.2(TTN):c.82278C>T (p.Ala27426=)
|
|
|
|
NM_001267550.2(TTN):c.82299del (p.Lys27433fs)
|
rs2154161694
|
|
|
NM_001267550.2(TTN):c.82303C>A (p.Leu27435Ile)
|
rs1060500432
|
|
|
NM_001267550.2(TTN):c.82308T>C (p.Pro27436=)
|
|
|
|
NM_001267550.2(TTN):c.82314T>C (p.Asn27438=)
|
rs2154161680
|
|
|
NM_001267550.2(TTN):c.8231G>C (p.Gly2744Ala)
|
rs556908341
|
|
|
NM_001267550.2(TTN):c.82350T>C (p.Tyr27450=)
|
rs1060503941
|
|
|
NM_001267550.2(TTN):c.82350T>G (p.Tyr27450Ter)
|
rs1060503941
|
|
|
NM_001267550.2(TTN):c.82366T>C (p.Leu27456=)
|
rs2154161643
|
|
|
NM_001267550.2(TTN):c.82383T>G (p.Val27461=)
|
|
|
|
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys)
|
rs55933739
|
|
|
NM_001267550.2(TTN):c.82409del (p.Pro27470fs)
|
|
|
|
NM_001267550.2(TTN):c.82415_82419dup (p.Ser27474fs)
|
|
|
|
NM_001267550.2(TTN):c.82434C>A (p.Val27478=)
|
rs1473097574
|
|
|
NM_001267550.2(TTN):c.82440A>C (p.Ala27480=)
|
|
|
|
NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter)
|
|
|
|
NM_001267550.2(TTN):c.82482A>G (p.Val27494=)
|
|
|
|
NM_001267550.2(TTN):c.82512C>A (p.Tyr27504Ter)
|
rs1181684993
|
|
|
NM_001267550.2(TTN):c.82518T>C (p.Leu27506=)
|
|
|
|
NM_001267550.2(TTN):c.82529del (p.Asp27510fs)
|
|
|
|
NM_001267550.2(TTN):c.82535_82538del (p.Glu27512fs)
|
|
|
|
NM_001267550.2(TTN):c.82536del (p.Gly27513fs)
|
rs2154161517
|
|
|
NM_001267550.2(TTN):c.8253A>G (p.Glu2751=)
|
rs1574570701
|
|
|
NM_001267550.2(TTN):c.82545A>G (p.Arg27515=)
|
|
|
|
NM_001267550.2(TTN):c.82547G>A (p.Trp27516Ter)
|
rs2154161494
|
|
|
NM_001267550.2(TTN):c.82557C>T (p.Cys27519=)
|
|
|
|
NM_001267550.2(TTN):c.82566A>G (p.Lys27522=)
|
rs1704491660
|
|
|
NM_001267550.2(TTN):c.82576del (p.Asp27526fs)
|
|
|
|
NM_001267550.2(TTN):c.82584G>A (p.Arg27528=)
|
rs1704483263
|
|
|
NM_001267550.2(TTN):c.82584G>C (p.Arg27528=)
|
|
|
|
NM_001267550.2(TTN):c.82587C>A (p.Leu27529=)
|
|
|
|
NM_001267550.2(TTN):c.82592_82593del (p.Val27531fs)
|
rs1704477893
|
|
|
NM_001267550.2(TTN):c.82594dup (p.Thr27532fs)
|
rs1064795407
|
|
|
NM_001267550.2(TTN):c.82602T>C (p.Leu27534=)
|
rs760443248
|
|
|
NM_001267550.2(TTN):c.82605C>G (p.Thr27535=)
|
rs772246177
|
|
|
NM_001267550.2(TTN):c.82605C>T (p.Thr27535=)
|
rs772246177
|
|
|
NM_001267550.2(TTN):c.82611C>T (p.Gly27537=)
|
|
|
|
NM_001267550.2(TTN):c.82620T>C (p.Tyr27540=)
|
|
|
|
NM_001267550.2(TTN):c.82623A>G (p.Glu27541=)
|
|
|
|
NM_001267550.2(TTN):c.82629A>G (p.Arg27543=)
|
|
|
|
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)
|
rs779874042
|
|
|
NM_001267550.2(TTN):c.82653T>A (p.Gly27551=)
|
rs1575647598
|
|
|
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)
|
rs869178171
|
|
|
NM_001267550.2(TTN):c.82665T>G (p.Pro27555=)
|
|
|
|
NM_001267550.2(TTN):c.82668T>C (p.Ser27556=)
|
|
|
|
NM_001267550.2(TTN):c.82671G>A (p.Glu27557=)
|
rs1276281571
|
|
|
NM_001267550.2(TTN):c.82673dup (p.Ser27559fs)
|
rs1704426915
|
|
|
NM_001267550.2(TTN):c.82684_82685insSVAelement
|
|
|
|
NM_001267550.2(TTN):c.82686C>T (p.Tyr27562=)
|
rs1361088942
|
|
|
NM_001267550.2(TTN):c.82727del (p.Asn27576fs)
|
|
|
|
NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter)
|
rs368850871
|
|
|
NM_001267550.2(TTN):c.82776T>C (p.Ser27592=)
|
rs1553571817
|
|
|
NM_001267550.2(TTN):c.82785T>C (p.Ile27595=)
|
|
|
|
NM_001267550.2(TTN):c.82786del (p.Tyr27596fs)
|
rs1704380780
|
|
|
NM_001267550.2(TTN):c.82796G>A (p.Gly27599Asp)
|
rs1553571755
|
|
|
NM_001267550.2(TTN):c.82803T>C (p.Pro27601=)
|
|
|
|
NM_001267550.2(TTN):c.82810G>C (p.Gly27604Arg)
|
rs199929362
|
|
|
NM_001267550.2(TTN):c.82818T>C (p.Val27606=)
|
rs755992326
|
|
|
NM_001267550.2(TTN):c.82822G>T (p.Glu27608Ter)
|
rs1704361187
|
|
|
NM_001267550.2(TTN):c.82843del (p.Asp27615fs)
|
|
|
|
NM_001267550.2(TTN):c.82847_82850del (p.Glu27616fs)
|
rs2154161251
|
|
|
NM_001267550.2(TTN):c.82857C>T (p.Thr27619=)
|
rs1575645074
|
|
|
NM_001267550.2(TTN):c.8285A>T (p.Tyr2762Phe)
|
rs1553995474
|
|
|
NM_001267550.2(TTN):c.8286C>G (p.Tyr2762Ter)
|
rs1574570125
|
|
|
NM_001267550.2(TTN):c.8286C>T (p.Tyr2762=)
|
rs1574570125
|
|
|
NM_001267550.2(TTN):c.82879C>T (p.Gln27627Ter)
|
rs747365357
|
|
|
NM_001267550.2(TTN):c.82895_82896del (p.Thr27632fs)
|
rs796267411
|
|
|
NM_001267550.2(TTN):c.8289T>A (p.Ser2763=)
|
|
|
|
NM_001267550.2(TTN):c.82902C>T (p.Thr27634=)
|
rs2154161213
|
|
|
NM_001267550.2(TTN):c.82909A>T (p.Lys27637Ter)
|
|
|
|
NM_001267550.2(TTN):c.8290C>T (p.Leu2764=)
|
|
|
|
NM_001267550.2(TTN):c.82919C>G (p.Thr27640Ser)
|
rs1553571185
|
|
|
NM_001267550.2(TTN):c.82947C>T (p.Ile27649=)
|
rs1575643829
|
|
|
NM_001267550.2(TTN):c.8295G>A (p.Arg2765=)
|
|
|
|
NM_001267550.2(TTN):c.82980A>C (p.Leu27660=)
|
rs760972930
|
|
|
NM_001267550.2(TTN):c.82980A>G (p.Leu27660=)
|
|
|
|
NM_001267550.2(TTN):c.82999C>T (p.Gln27667Ter)
|
rs2154161170
|
|
|
NM_001267550.2(TTN):c.83004G>A (p.Glu27668=)
|
rs1575643277
|
|
|
NM_001267550.2(TTN):c.83013G>A (p.Glu27671=)
|
|
|
|
NM_001267550.2(TTN):c.8301A>G (p.Lys2767=)
|
rs2154342880
|
|
|
NM_001267550.2(TTN):c.83044A>C (p.Arg27682=)
|
|
|
|
NM_001267550.2(TTN):c.83048del (p.Lys27683fs)
|
rs1060500572
|
|
|
NM_001267550.2(TTN):c.83055C>T (p.Val27685=)
|
|
|
|
NM_001267550.2(TTN):c.83061G>A (p.Leu27687=)
|
|
|
|
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs)
|
rs869312037
|
|
|
NM_001267550.2(TTN):c.83095A>C (p.Ile27699Leu)
|
rs1553570628
|
|
|
NM_001267550.2(TTN):c.83103T>C (p.Gly27701=)
|
rs941715581
|
|
|
NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter)
|
rs1559314812
|
|
|
NM_001267550.2(TTN):c.83125_83131del (p.Trp27709fs)
|
|
|
|
NM_001267550.2(TTN):c.83126G>A (p.Trp27709Ter)
|
rs2154161090
|
|
|
NM_001267550.2(TTN):c.83136A>C (p.Ala27712=)
|
|
|
|
NM_001267550.2(TTN):c.8313C>A (p.Ile2771=)
|
|
|
|
NM_001267550.2(TTN):c.8313C>T (p.Ile2771=)
|
rs576644663
|
|
|
NM_001267550.2(TTN):c.83191T>C (p.Leu27731=)
|
rs886039101
|
|
|
NM_001267550.2(TTN):c.83212A>C (p.Arg27738=)
|
|
|
|
NM_001267550.2(TTN):c.83232T>A (p.Tyr27744Ter)
|
|
|
|
NM_001267550.2(TTN):c.83250T>C (p.Asn27750=)
|
|
|
|
NM_001267550.2(TTN):c.83280C>T (p.Asn27760=)
|
rs1435031798
|
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
|
NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu)
|
rs371788070
|
|
|
NM_001267550.2(TTN):c.83295C>T (p.Asp27765=)
|
rs1385922994
|
|
|
NM_001267550.2(TTN):c.83297C>A (p.Ser27766Ter)
|
|
|
|
NM_001267550.2(TTN):c.83307C>T (p.Ala27769=)
|
|
|
|
NM_001267550.2(TTN):c.83317T>G (p.Leu27773Val)
|
rs376683928
|
|
|
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs)
|
rs2154160971
|
|
|
NM_001267550.2(TTN):c.83328A>G (p.Arg27776=)
|
|
|
|
NM_001267550.2(TTN):c.83335A>T (p.Lys27779Ter)
|
rs2154160959
|
|
|
NM_001267550.2(TTN):c.83337G>A (p.Lys27779=)
|
|
|
|
NM_001267550.2(TTN):c.83345C>G (p.Ser27782Ter)
|
rs769862471
|
|
|
NM_001267550.2(TTN):c.83355G>A (p.Leu27785=)
|
rs1366351874
|
|
|
NM_001267550.2(TTN):c.83358C>T (p.Ser27786=)
|
|
|
|
NM_001267550.2(TTN):c.83364A>G (p.Glu27788=)
|
|
|
|
NM_001267550.2(TTN):c.83379T>C (p.Asp27793=)
|
|
|
|
NM_001267550.2(TTN):c.83382T>C (p.Gly27794=)
|
|
|
|
NM_001267550.2(TTN):c.83384del (p.Gly27795fs)
|
rs1704151765
|
|
|
NM_001267550.2(TTN):c.833del (p.Ala278fs)
|
|
|
|
NM_001267550.2(TTN):c.83412A>G (p.Glu27804=)
|
|
|
|
NM_001267550.2(TTN):c.83457T>C (p.Asn27819=)
|
rs768758920
|
|
|
NM_001267550.2(TTN):c.83460C>T (p.Cys27820=)
|
rs2154160885
|
|
|
NM_001267550.2(TTN):c.83463T>C (p.Thr27821=)
|
|
|
|
NM_001267550.2(TTN):c.83493A>G (p.Gln27831=)
|
|
|
|
NM_001267550.2(TTN):c.8349G>A (p.Arg2783=)
|
|
|
|
NM_001267550.2(TTN):c.83504_83505del (p.Ser27835fs)
|
|
|
|
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter)
|
rs869312118
|
|
|
NM_001267550.2(TTN):c.83521T>C (p.Leu27841=)
|
|
|
|
NM_001267550.2(TTN):c.83526T>G (p.Ala27842=)
|
rs539533062
|
|
|
NM_001267550.2(TTN):c.83541G>A (p.Gly27847=)
|
|
|
|
NM_001267550.2(TTN):c.83562A>C (p.Thr27854=)
|
rs1704092253
|
|
|
NM_001267550.2(TTN):c.83580G>T (p.Val27860=)
|
|
|
|
NM_001267550.2(TTN):c.83583T>C (p.Ser27861=)
|
|
|
|
NM_001267550.2(TTN):c.83590C>T (p.Pro27864Ser)
|
rs1553568366
|
|
|
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=)
|
rs760755965
|
|
|
NM_001267550.2(TTN):c.83609dup (p.Thr27871fs)
|
|
|
|
NM_001267550.2(TTN):c.83634T>C (p.Asn27878=)
|
|
|
|
NM_001267550.2(TTN):c.83635del (p.Thr27879fs)
|
|
|
|
NM_001267550.2(TTN):c.83640T>C (p.Ala27880=)
|
|
|
|
NM_001267550.2(TTN):c.83653G>T (p.Glu27885Ter)
|
rs794729295
|
|
|
NM_001267550.2(TTN):c.8365A>T (p.Arg2789Ter)
|
rs1553995241
|
|
|
NM_001267550.2(TTN):c.83688T>C (p.Thr27896=)
|
|
|
|
NM_001267550.2(TTN):c.83691T>C (p.Gly27897=)
|
|
|
|
NM_001267550.2(TTN):c.83709G>A (p.Gln27903=)
|
|
|
|
NM_001267550.2(TTN):c.8370G>A (p.Leu2790=)
|
|
|
|
NM_001267550.2(TTN):c.83739C>A (p.Cys27913Ter)
|
|
|
|
NM_001267550.2(TTN):c.8373C>T (p.His2791=)
|
rs566816279
|
|
|
NM_001267550.2(TTN):c.83747_83751del (p.Val27916fs)
|
|
|
|
NM_001267550.2(TTN):c.83751G>A (p.Lys27917=)
|
rs746705899
|
|
|
NM_001267550.2(TTN):c.83775C>T (p.Gly27925=)
|
rs763936394
|
|
|
NM_001267550.2(TTN):c.83788_83789del (p.Glu27930fs)
|
rs1553567622
|
|
|
NM_001267550.2(TTN):c.83796T>C (p.Tyr27932=)
|
rs2154160668
|
|
|
NM_001267550.2(TTN):c.83799C>T (p.Val27933=)
|
rs1575633514
|
|
|
NM_001267550.2(TTN):c.837G>T (p.Arg279=)
|
rs2154358493
|
|
|
NM_001267550.2(TTN):c.8380+12T>C
|
|
|
|
NM_001267550.2(TTN):c.8380+13A>G
|
|
|
|
NM_001267550.2(TTN):c.8380+14G>C
|
|
|
|
NM_001267550.2(TTN):c.8380+19A>G
|
|
|
|
NM_001267550.2(TTN):c.8380+1G>A
|
rs794729306
|
|
|
NM_001267550.2(TTN):c.8380+20C>G
|
|
|
|
NM_001267550.2(TTN):c.8380+5G>T
|
rs2154342828
|
|
|
NM_001267550.2(TTN):c.83805G>A (p.Arg27935=)
|
rs1575633484
|
|
|
NM_001267550.2(TTN):c.8381-11T>C
|
|
|
|
NM_001267550.2(TTN):c.8381-18C>T
|
|
|
|
NM_001267550.2(TTN):c.8381-4T>C
|
rs767331652
|
|
|
NM_001267550.2(TTN):c.8381-7C>G
|
|
|
|
NM_001267550.2(TTN):c.83811T>C (p.Ala27937=)
|
|
|
|
NM_001267550.2(TTN):c.83817T>A (p.Val27939=)
|
|
|
|
NM_001267550.2(TTN):c.83830_83836delinsTCACT (p.Arg27944fs)
|
rs1575633082
|
|
|
NM_001267550.2(TTN):c.83832A>G (p.Arg27944=)
|
|
|
|
NM_001267550.2(TTN):c.83835T>C (p.Ser27945=)
|
rs2154160647
|
|
|
NM_001267550.2(TTN):c.83859A>C (p.Pro27953=)
|
|
|
|
NM_001267550.2(TTN):c.83892A>G (p.Ser27964=)
|
|
|
|
NM_001267550.2(TTN):c.83904T>G (p.Pro27968=)
|
rs2154160608
|
|
|
NM_001267550.2(TTN):c.83937A>G (p.Gln27979=)
|
rs2154160588
|
|
|
NM_001267550.2(TTN):c.83939T>C (p.Leu27980Pro)
|
rs1060500536
|
|
|
NM_001267550.2(TTN):c.83940T>C (p.Leu27980=)
|
rs1703927825
|
|
|
NM_001267550.2(TTN):c.83971C>T (p.Gln27991Ter)
|
rs1703920233
|
|
|
NM_001267550.2(TTN):c.83982G>A (p.Val27994=)
|
|
|
|
NM_001267550.2(TTN):c.84004A>C (p.Thr28002Pro)
|
rs369737884
|
|
|
NM_001267550.2(TTN):c.8400G>A (p.Lys2800=)
|
rs2154342777
|
|
|
NM_001267550.2(TTN):c.84024_84025del (p.Arg28008fs)
|
rs1575630957
|
|
|
NM_001267550.2(TTN):c.84033T>G (p.Val28011=)
|
|
|
|
NM_001267550.2(TTN):c.84036T>C (p.Ser28012=)
|
|
|
|
NM_001267550.2(TTN):c.84057A>G (p.Ser28019=)
|
|
|
|
NM_001267550.2(TTN):c.84062_84065del (p.Ser28021fs)
|
rs1703876192
|
|
|
NM_001267550.2(TTN):c.84063_84066del (p.Ile28022fs)
|
rs796692860
|
|
|
NM_001267550.2(TTN):c.84070_84073del (p.Glu28024fs)
|
rs2154160472
|
|
|
NM_001267550.2(TTN):c.84099T>A (p.Tyr28033Ter)
|
rs762450131
|
|
|
NM_001267550.2(TTN):c.84109_84110del (p.Val28037fs)
|
rs2154160413
|
|
|
NM_001267550.2(TTN):c.84135A>G (p.Thr28045=)
|
rs2154160390
|
|
|
NM_001267550.2(TTN):c.84153T>C (p.Ile28051=)
|
rs1553566157
|
|
|
NM_001267550.2(TTN):c.84156C>T (p.Val28052=)
|
|
|
|
NM_001267550.2(TTN):c.84159T>G (p.Leu28053=)
|
|
|
|
NM_001267550.2(TTN):c.84171A>G (p.Gly28057=)
|
|
|
|
NM_001267550.2(TTN):c.84177A>G (p.Pro28059=)
|
|
|
|
NM_001267550.2(TTN):c.84202_84205del (p.Ser28068fs)
|
|
|
|
NM_001267550.2(TTN):c.8421G>A (p.Leu2807=)
|
|
|
|
NM_001267550.2(TTN):c.84228del (p.Ser28075_Trp28076insTer)
|
rs1703813514
|
|
|
NM_001267550.2(TTN):c.84255C>T (p.Cys28085=)
|
|
|
|
NM_001267550.2(TTN):c.84263G>C (p.Ser28088Thr)
|
rs200450022
|
|
|
NM_001267550.2(TTN):c.84264C>T (p.Ser28088=)
|
rs2154160206
|
|
|
NM_001267550.2(TTN):c.84285A>G (p.Lys28095=)
|
|
|
|
NM_001267550.2(TTN):c.84296_84297del (p.Ser28099fs)
|
rs1553565463
|
|
|
NM_001267550.2(TTN):c.84304T>C (p.Trp28102Arg)
|
rs1553565393
|
|
|
NM_001267550.2(TTN):c.84309C>T (p.His28103=)
|
rs749278779
|
|
|
NM_001267550.2(TTN):c.84332G>A (p.Arg28111Lys)
|
rs1060500463
|
|
|
NM_001267550.2(TTN):c.84338C>T (p.Ser28113Phe)
|
rs753201539
|
|
|
NM_001267550.2(TTN):c.8433del (p.Val2812fs)
|
rs2091273665
|
|
|
NM_001267550.2(TTN):c.84351T>C (p.Val28117=)
|
|
|
|
NM_001267550.2(TTN):c.84353G>A (p.Arg28118His)
|
rs72648220
|
|
|
NM_001267550.2(TTN):c.84353del (p.Arg28118fs)
|
|
|
|
NM_001267550.2(TTN):c.84365del (p.Gly28122fs)
|
rs750146750
|
|
|
NM_001267550.2(TTN):c.84370_84373del (p.Glu28124fs)
|
rs1559301344
|
|
|
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter)
|
rs869312119
|
|
|
NM_001267550.2(TTN):c.84387T>C (p.Val28129=)
|
|
|
|
NM_001267550.2(TTN):c.84390T>C (p.Cys28130=)
|
rs745619613
|
|
|
NM_001267550.2(TTN):c.843G>A (p.Gln281=)
|
|
|
|
NM_001267550.2(TTN):c.84405T>G (p.Tyr28135Ter)
|
rs756176112
|
|
|
NM_001267550.2(TTN):c.84438T>C (p.Val28146=)
|
|
|
|
NM_001267550.2(TTN):c.84462C>T (p.Pro28154=)
|
rs1703705150
|
|
|
NM_001267550.2(TTN):c.84464del (p.Pro28155fs)
|
|
|
|
NM_001267550.2(TTN):c.84482del (p.Pro28161fs)
|
rs1060500556
|
|
|
NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter)
|
rs2154159874
|
|
|
NM_001267550.2(TTN):c.84537_84540dup (p.Asp28181Ter)
|
|
|
|
NM_001267550.2(TTN):c.84564C>G (p.Gly28188=)
|
|
|
|
NM_001267550.2(TTN):c.84585A>G (p.Glu28195=)
|
rs2154159798
|
|
|
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs)
|
rs1703664543
|
|
|
NM_001267550.2(TTN):c.84602G>A (p.Trp28201Ter)
|
rs2154159779
|
|
|
NM_001267550.2(TTN):c.84607A>T (p.Lys28203Ter)
|
|
|
|
NM_001267550.2(TTN):c.84619del (p.Ile28207fs)
|
rs2154159753
|
|
|
NM_001267550.2(TTN):c.84621C>A (p.Ile28207=)
|
|
|
|
NM_001267550.2(TTN):c.84631del (p.Asp28211fs)
|
rs1703651493
|
|
|
NM_001267550.2(TTN):c.84641_84645del (p.Met28214fs)
|
|
|
|
NM_001267550.2(TTN):c.84642del (p.Met28214fs)
|
|
|
|
NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter)
|
rs2154159715
|
|
|
NM_001267550.2(TTN):c.84681T>C (p.Tyr28227=)
|
rs373268234
|
|
|
NM_001267550.2(TTN):c.84684T>C (p.Arg28228=)
|
|
|
|
NM_001267550.2(TTN):c.84690T>C (p.Tyr28230=)
|
|
|
|
NM_001267550.2(TTN):c.84717A>G (p.Lys28239=)
|
|
|
|
NM_001267550.2(TTN):c.84756T>C (p.Pro28252=)
|
|
|
|
NM_001267550.2(TTN):c.8478A>G (p.Lys2826=)
|
|
|
|
NM_001267550.2(TTN):c.84794C>A (p.Thr28265Lys)
|
rs376874908
|
|
|
NM_001267550.2(TTN):c.84795A>G (p.Thr28265=)
|
rs556179122
|
|
|
NM_001267550.2(TTN):c.84797_84799del (p.Arg28266del)
|
rs1553564204
|
|
|
NM_001267550.2(TTN):c.84801A>G (p.Lys28267=)
|
|
|
|
NM_001267550.2(TTN):c.84813T>C (p.Leu28271=)
|
|
|
|
NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter)
|
rs72648222
|
|
|
NM_001267550.2(TTN):c.84819del (p.Trp28273fs)
|
rs2154159514
|
|
|
NM_001267550.2(TTN):c.84820dup (p.Ser28274fs)
|
rs2154159502
|
|
|
NM_001267550.2(TTN):c.84846T>C (p.Ala28282=)
|
|
|
|
NM_001267550.2(TTN):c.84885A>G (p.Pro28295=)
|
rs2154159457
|
|
|
NM_001267550.2(TTN):c.84888T>C (p.Asp28296=)
|
rs1703558085
|
|
|
NM_001267550.2(TTN):c.84897G>A (p.Trp28299Ter)
|
rs794729296
|
|
|
NM_001267550.2(TTN):c.848del (p.Pro283fs)
|
rs2154358488
|
|
|
NM_001267550.2(TTN):c.84918T>C (p.Asn28306=)
|
|
|
|
NM_001267550.2(TTN):c.84922del (p.Gln28308fs)
|
rs2154159416
|
|
|
NM_001267550.2(TTN):c.84958_84959delinsT (p.Asp28320fs)
|
rs1703522059
|
|
|
NM_001267550.2(TTN):c.84968A>G (p.Tyr28323Cys)
|
rs1285180382
|
|
|
NM_001267550.2(TTN):c.8497G>T (p.Glu2833Ter)
|
rs1553994874
|
|
|
NM_001267550.2(TTN):c.84984dup (p.Ala28329fs)
|
rs2154159353
|
|
|
NM_001267550.2(TTN):c.84993T>C (p.Asn28331=)
|
|
|
|
NM_001267550.2(TTN):c.849A>G (p.Pro283=)
|
rs2154358483
|
|
|
NM_001267550.2(TTN):c.85005dup (p.Val28336fs)
|
|
|
|
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs)
|
rs869312100
|
|
|
NM_001267550.2(TTN):c.8500del (p.Ile2834fs)
|
|
|
|
NM_001267550.2(TTN):c.85011T>C (p.Ser28337=)
|
rs943889457
|
|
|
NM_001267550.2(TTN):c.85011_85014del (p.Glu28338fs)
|
rs2154159327
|
|
|
NM_001267550.2(TTN):c.85013_85014del (p.Glu28338fs)
|
rs2154159323
|
|
|
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)
|
rs397517731
|
|
|
NM_001267550.2(TTN):c.85059G>A (p.Glu28353=)
|
|
|
|
NM_001267550.2(TTN):c.85065A>C (p.Pro28355=)
|
|
|
|
NM_001267550.2(TTN):c.85143T>C (p.Ile28381=)
|
|
|
|
NM_001267550.2(TTN):c.85149G>A (p.Gly28383=)
|
rs2154159219
|
|
|
NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter)
|
rs1703437679
|
|
|
NM_001267550.2(TTN):c.85176C>T (p.Ala28392=)
|
rs542010331
|
|
|
NM_001267550.2(TTN):c.85180dup (p.Asp28394fs)
|
|
|
|
NM_001267550.2(TTN):c.85194T>C (p.Ile28398=)
|
|
|
|
NM_001267550.2(TTN):c.85203A>G (p.Arg28401=)
|
|
|
|
NM_001267550.2(TTN):c.85254del (p.Asp28419fs)
|
|
|
|
NM_001267550.2(TTN):c.85262dup (p.Arg28422fs)
|
|
|
|
NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter)
|
rs769664554
|
|
|
NM_001267550.2(TTN):c.8526G>C (p.Leu2842=)
|
rs990598694
|
|
|
NM_001267550.2(TTN):c.85293A>G (p.Thr28431=)
|
rs2154159100
|
|
|
NM_001267550.2(TTN):c.8529C>G (p.Val2843=)
|
|
|
|
NM_001267550.2(TTN):c.852G>A (p.Ser284=)
|
rs768340304
|
|
|
NM_001267550.2(TTN):c.8532A>C (p.Ser2844=)
|
|
|
|
NM_001267550.2(TTN):c.85356T>A (p.Gly28452=)
|
rs2154159047
|
|
|
NM_001267550.2(TTN):c.85356T>G (p.Gly28452=)
|
|
|
|
NM_001267550.2(TTN):c.85359del (p.Pro28454fs)
|
|
|
|
NM_001267550.2(TTN):c.85402T>C (p.Cys28468Arg)
|
rs1553563147
|
|
|
NM_001267550.2(TTN):c.85408_85409del (p.Leu28470fs)
|
rs2154159007
|
|
|
NM_001267550.2(TTN):c.85431del (p.Asp28478fs)
|
rs1703325248
|
|
|
NM_001267550.2(TTN):c.85446T>C (p.Asp28482=)
|
rs1060503971
|
|
|
NM_001267550.2(TTN):c.85449C>A (p.Ile28483=)
|
rs758811159
|
|
|
NM_001267550.2(TTN):c.85449C>T (p.Ile28483=)
|
rs758811159
|
|
|
NM_001267550.2(TTN):c.85450G>T (p.Asp28484Tyr)
|
rs56330345
|
|
|
NM_001267550.2(TTN):c.85458C>T (p.Tyr28486=)
|
rs978230375
|
|
|
NM_001267550.2(TTN):c.85458del (p.Tyr28485_Tyr28486insTer)
|
rs2154158972
|
|
|
NM_001267550.2(TTN):c.85464A>T (p.Val28488=)
|
|
|
|
NM_001267550.2(TTN):c.85486del (p.Ala28497fs)
|
rs2154158948
|
|
|
NM_001267550.2(TTN):c.85491A>C (p.Ala28497=)
|
|
|
|
NM_001267550.2(TTN):c.85493G>A (p.Trp28498Ter)
|
|
|
|
NM_001267550.2(TTN):c.85494G>A (p.Trp28498Ter)
|
|
|
|
NM_001267550.2(TTN):c.85512G>A (p.Glu28504=)
|
rs540398259
|
|
|
NM_001267550.2(TTN):c.85514T>G (p.Leu28505Ter)
|
rs1057520803
|
|
|
NM_001267550.2(TTN):c.85519dup (p.Met28507fs)
|
rs1575614351
|
|
|
NM_001267550.2(TTN):c.85525dup (p.Ser28509fs)
|
rs2154158897
|
|
|
NM_001267550.2(TTN):c.85544T>G (p.Leu28515Ter)
|
rs886041441
|
|
|
NM_001267550.2(TTN):c.85546del (p.Leu28516fs)
|
rs2154158876
|
|
|
NM_001267550.2(TTN):c.85560A>G (p.Glu28520=)
|
rs1176836829
|
|
|
NM_001267550.2(TTN):c.85563T>C (p.Tyr28521=)
|
rs1575613740
|
|
|
NM_001267550.2(TTN):c.85581T>G (p.Gly28527=)
|
rs1575613557
|
|
|
NM_001267550.2(TTN):c.85587T>C (p.Asn28529=)
|
|
|
|
NM_001267550.2(TTN):c.85589_85592del (p.Lys28530fs)
|
rs1553562793
|
|
|
NM_001267550.2(TTN):c.85599T>C (p.Val28533=)
|
rs1553562779
|
|
|
NM_001267550.2(TTN):c.85611A>C (p.Leu28537=)
|
|
|
|
NM_001267550.2(TTN):c.85612_85619del (p.Glu28538fs)
|
rs794729353
|
|
|
NM_001267550.2(TTN):c.85623T>C (p.Ala28541=)
|
rs2154158801
|
|
|
NM_001267550.2(TTN):c.8562G>A (p.Gln2854=)
|
rs375056408
|
|
|
NM_001267550.2(TTN):c.85638T>C (p.Asp28546=)
|
rs1307700932
|
|
|
NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs)
|
rs762286447
|
|
|
NM_001267550.2(TTN):c.8565C>T (p.Asn2855=)
|
rs878854338
|
|
|
NM_001267550.2(TTN):c.85665G>C (p.Thr28555=)
|
rs376611533
|
|
|
NM_001267550.2(TTN):c.85686G>C (p.Val28562=)
|
rs2154158722
|
|
|
NM_001267550.2(TTN):c.85698T>C (p.Ser28566=)
|
rs1703202093
|
|
|
NM_001267550.2(TTN):c.85707_85708del (p.Cys28570fs)
|
rs1219440385
|
|
|
NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter)
|
rs1575612435
|
|
|
NM_001267550.2(TTN):c.85722C>G (p.Pro28574=)
|
|
|
|
NM_001267550.2(TTN):c.85722C>T (p.Pro28574=)
|
rs763685410
|
|
|
NM_001267550.2(TTN):c.85748C>T (p.Ser28583Phe)
|
rs1553562507
|
|
|
NM_001267550.2(TTN):c.85749T>C (p.Ser28583=)
|
|
|
|
NM_001267550.2(TTN):c.8574C>T (p.Pro2858=)
|
|
|
|
NM_001267550.2(TTN):c.85752A>G (p.Gly28584=)
|
|
|
|
NM_001267550.2(TTN):c.85755T>A (p.Tyr28585Ter)
|
rs1553562490
|
|
|
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter)
|
rs748689777
|
|
|
NM_001267550.2(TTN):c.8576C>G (p.Ser2859Ter)
|
rs1574564600
|
|
|
NM_001267550.2(TTN):c.85770A>G (p.Arg28590=)
|
rs576796293
|
|
|
NM_001267550.2(TTN):c.85773G>A (p.Glu28591=)
|
rs2154158623
|
|
|
NM_001267550.2(TTN):c.8577A>G (p.Ser2859=)
|
|
|
|
NM_001267550.2(TTN):c.85782C>T (p.Ser28594=)
|
rs2154158608
|
|
|
NM_001267550.2(TTN):c.85790G>A (p.Trp28597Ter)
|
|
|
|
NM_001267550.2(TTN):c.85794G>A (p.Val28598=)
|
rs2154158606
|
|
|
NM_001267550.2(TTN):c.85800A>G (p.Val28600=)
|
rs1703170018
|
|
|
NM_001267550.2(TTN):c.85803C>T (p.Asn28601=)
|
rs2154158592
|
|
|
NM_001267550.2(TTN):c.85809A>G (p.Lys28603=)
|
|
|
|
NM_001267550.2(TTN):c.85811del (p.Pro28604fs)
|
|
|
|
NM_001267550.2(TTN):c.85824A>C (p.Leu28608=)
|
rs777465713
|
|
|
NM_001267550.2(TTN):c.85846C>A (p.Arg28616=)
|
rs754025981
|
|
|
NM_001267550.2(TTN):c.85860del (p.Glu28620fs)
|
rs1575611108
|
|
|
NM_001267550.2(TTN):c.85863T>C (p.Tyr28621=)
|
rs113527853
|
|
|
NM_001267550.2(TTN):c.85871G>A (p.Arg28624His)
|
rs538641703
|
|
|
NM_001267550.2(TTN):c.85876T>C (p.Tyr28626His)
|
rs1477861188
|
|
|
NM_001267550.2(TTN):c.85893T>C (p.Ala28631=)
|
|
|
|
NM_001267550.2(TTN):c.85896C>T (p.Gly28632=)
|
rs2154158516
|
|
|
NM_001267550.2(TTN):c.85956A>G (p.Pro28652=)
|
rs1397760863
|
|
|
NM_001267550.2(TTN):c.8595A>C (p.Thr2865=)
|
|
|
|
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter)
|
rs72648224
|
|
|
NM_001267550.2(TTN):c.8598T>A (p.Ala2866=)
|
|
|
|
NM_001267550.2(TTN):c.86003dup (p.Thr28669fs)
|
rs1559284676
|
|
|
NM_001267550.2(TTN):c.86010T>C (p.Ile28670=)
|
rs2154158429
|
|
|
NM_001267550.2(TTN):c.86015G>A (p.Trp28672Ter)
|
rs1559284497
|
|
|
NM_001267550.2(TTN):c.86016G>A (p.Trp28672Ter)
|
rs1553562022
|
|
|
NM_001267550.2(TTN):c.8601G>T (p.Val2867=)
|
rs750186553
|
|
|
NM_001267550.2(TTN):c.86025G>C (p.Pro28675=)
|
|
|
|
NM_001267550.2(TTN):c.86030T>C (p.Phe28677Ser)
|
rs1553561985
|
|
|
NM_001267550.2(TTN):c.86036dup (p.Gly28680fs)
|
rs2154158408
|
|
|
NM_001267550.2(TTN):c.86049A>T (p.Ile28683=)
|
rs2154158386
|
|
|
NM_001267550.2(TTN):c.8604C>A (p.Val2868=)
|
rs753733308
|
|
|
NM_001267550.2(TTN):c.8604C>G (p.Val2868=)
|
rs753733308
|
|
|
NM_001267550.2(TTN):c.86061T>G (p.Thr28687=)
|
rs1060503933
|
|
|
NM_001267550.2(TTN):c.86064A>G (p.Val28688=)
|
rs2154158371
|
|
|
NM_001267550.2(TTN):c.86076A>G (p.Lys28692=)
|
|
|
|
NM_001267550.2(TTN):c.86076del (p.Lys28692fs)
|
rs1285329277
|
|
|
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs)
|
rs1285329277
|
|
|
NM_001267550.2(TTN):c.86088T>C (p.Thr28696=)
|
rs2154158354
|
|
|
NM_001267550.2(TTN):c.86115A>G (p.Leu28705=)
|
rs1553561760
|
|
|
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter)
|
rs794729384
|
|
|
NM_001267550.2(TTN):c.86130T>C (p.Tyr28710=)
|
rs2154158337
|
|
|
NM_001267550.2(TTN):c.86142A>G (p.Gly28714=)
|
|
|
|
NM_001267550.2(TTN):c.86160A>G (p.Glu28720=)
|
|
|
|
NM_001267550.2(TTN):c.86162_86163del (p.Tyr28721fs)
|
rs2154158304
|
|
|
NM_001267550.2(TTN):c.86208C>T (p.Pro28736=)
|
rs2154158273
|
|
|
NM_001267550.2(TTN):c.86214T>C (p.Asp28738=)
|
|
|
|
NM_001267550.2(TTN):c.86219_86220del (p.Ser28739_Ser28740insTer)
|
|
|
|
NM_001267550.2(TTN):c.86235A>G (p.Ala28745=)
|
rs2154158247
|
|
|
NM_001267550.2(TTN):c.86235A>T (p.Ala28745=)
|
|
|
|
NM_001267550.2(TTN):c.86242A>G (p.Arg28748Gly)
|
rs1553561470
|
|
|
NM_001267550.2(TTN):c.86251G>T (p.Glu28751Ter)
|
rs772058084
|
|
|
NM_001267550.2(TTN):c.86290T>A (p.Leu28764Met)
|
rs1553561353
|
|
|
NM_001267550.2(TTN):c.86290_86299del (p.Leu28764fs)
|
rs2154158204
|
|
|
NM_001267550.2(TTN):c.86290_86302del (p.Ile28765fs)
|
rs2154158200
|
|
|
NM_001267550.2(TTN):c.86290_86303delinsA (p.Leu28764fs)
|
rs1064792916
|
|
|
NM_001267550.2(TTN):c.86292G>C (p.Leu28764Phe)
|
rs1553561345
|
|
|
NM_001267550.2(TTN):c.86294T>C (p.Ile28765Thr)
|
rs1553561335
|
|
|
NM_001267550.2(TTN):c.86295T>C (p.Ile28765=)
|
|
|
|
NM_001267550.2(TTN):c.86313A>G (p.Ser28771=)
|
|
|
|
NM_001267550.2(TTN):c.86333del (p.Phe28778fs)
|
|
|
|
NM_001267550.2(TTN):c.86349A>G (p.Val28783=)
|
|
|
|
NM_001267550.2(TTN):c.86354_86821+291del
|
rs1559272130
|
|
|
NM_001267550.2(TTN):c.86361G>A (p.Leu28787=)
|
rs2154158142
|
|
|
NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter)
|
rs1064793814
|
|
|
NM_001267550.2(TTN):c.86377A>G (p.Thr28793Ala)
|
rs727505234
|
|
|
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs)
|
rs794729354
|
|
|
NM_001267550.2(TTN):c.86391T>G (p.Thr28797=)
|
rs1702927671
|
|
|
NM_001267550.2(TTN):c.86392A>T (p.Arg28798Ter)
|
|
|
|
NM_001267550.2(TTN):c.86397T>G (p.Ala28799=)
|
|
|
|
NM_001267550.2(TTN):c.86399_86403del (p.Ala28799_Tyr28800insTer)
|
|
|
|
NM_001267550.2(TTN):c.86400T>C (p.Tyr28800=)
|
rs558696435
|
|
|
NM_001267550.2(TTN):c.86407_86408dup (p.Thr28804fs)
|
rs2154158109
|
|
|
NM_001267550.2(TTN):c.8641+17C>T
|
|
|
|
NM_001267550.2(TTN):c.8641+18C>G
|
|
|
|
NM_001267550.2(TTN):c.8641+7A>T
|
rs2091246770
|
|
|
NM_001267550.2(TTN):c.86417C>T (p.Ser28806Phe)
|
rs1060500445
|
|
|
NM_001267550.2(TTN):c.86418T>C (p.Ser28806=)
|
|
|
|
NM_001267550.2(TTN):c.86419C>T (p.Arg28807Cys)
|
rs765632053
|
|
|
NM_001267550.2(TTN):c.86424A>G (p.Thr28808=)
|
|
|
|
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter)
|
rs1553560951
|
|
|
NM_001267550.2(TTN):c.86433C>T (p.Thr28811=)
|
|
|
|
NM_001267550.2(TTN):c.86441del (p.Asn28814fs)
|
|
|
|
NM_001267550.2(TTN):c.86445C>G (p.Ala28815=)
|
rs1459326742
|
|
|
NM_001267550.2(TTN):c.86448C>T (p.Asn28816=)
|
rs774349799
|
|
|
NM_001267550.2(TTN):c.86460T>C (p.Ser28820=)
|
|
|
|
NM_001267550.2(TTN):c.8646A>G (p.Leu2882=)
|
|
|
|
NM_001267550.2(TTN):c.86472A>G (p.Thr28824=)
|
|
|
|
NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter)
|
rs794729297
|
|
|
NM_001267550.2(TTN):c.86475A>G (p.Leu28825=)
|
|
|
|
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe)
|
rs794729519
|
|
|
NM_001267550.2(TTN):c.86505A>G (p.Ser28835=)
|
|
|
|
NM_001267550.2(TTN):c.86527T>C (p.Leu28843=)
|
|
|
|
NM_001267550.2(TTN):c.86532T>C (p.Asp28844=)
|
|
|
|
NM_001267550.2(TTN):c.86538A>C (p.Pro28846=)
|
rs747423090
|
|
|
NM_001267550.2(TTN):c.86541T>A (p.Gly28847=)
|
|
|
|
NM_001267550.2(TTN):c.86559T>C (p.Thr28853=)
|
|
|
|
NM_001267550.2(TTN):c.86570dup (p.Thr28858fs)
|
rs2154157942
|
|
|
NM_001267550.2(TTN):c.86574C>T (p.Thr28858=)
|
|
|
|
NM_001267550.2(TTN):c.86583T>G (p.Ser28861=)
|
|
|
|
NM_001267550.2(TTN):c.86592A>G (p.Leu28864=)
|
|
|
|
NM_001267550.2(TTN):c.86595C>T (p.Ser28865=)
|
rs1702832123
|
|
|
NM_001267550.2(TTN):c.86597G>A (p.Trp28866Ter)
|
|
|
|
NM_001267550.2(TTN):c.86631G>A (p.Val28877=)
|
|
|
|
NM_001267550.2(TTN):c.86634G>A (p.Lys28878=)
|
|
|
|
NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter)
|
rs794729298
|
|
|
NM_001267550.2(TTN):c.86640C>G (p.Tyr28880Ter)
|
rs794729298
|
|
|
NM_001267550.2(TTN):c.86640C>T (p.Tyr28880=)
|
|
|
|
NM_001267550.2(TTN):c.86643C>T (p.His28881=)
|
rs1553560212
|
|
|
NM_001267550.2(TTN):c.86655T>C (p.Arg28885=)
|
rs1169096487
|
|
|
NM_001267550.2(TTN):c.86670del (p.Ala28891fs)
|
rs1702795017
|
|
|
NM_001267550.2(TTN):c.86675G>A (p.Trp28892Ter)
|
rs745896785
|
|
|
NM_001267550.2(TTN):c.86676G>A (p.Trp28892Ter)
|
|
|
|
NM_001267550.2(TTN):c.86679C>T (p.Val28893=)
|
|
|
|
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)
|
rs201290358
|
|
|
NM_001267550.2(TTN):c.86699del (p.Asn28900fs)
|
rs2154157834
|
|
|
NM_001267550.2(TTN):c.86712C>T (p.Tyr28904=)
|
|
|
|
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del)
|
rs727504797
|
|
|
NM_001267550.2(TTN):c.86730A>G (p.Gln28910=)
|
|
|
|
NM_001267550.2(TTN):c.8673C>T (p.Ile2891=)
|
|
|
|
NM_001267550.2(TTN):c.86742_86745del (p.Tyr28915fs)
|
rs1415420768
|
|
|
NM_001267550.2(TTN):c.86745T>C (p.Tyr28915=)
|
|
|
|
NM_001267550.2(TTN):c.86754_86755del (p.Arg28918fs)
|
|
|
|
NM_001267550.2(TTN):c.86760T>C (p.Ser28920=)
|
rs1553559920
|
|
|
NM_001267550.2(TTN):c.86762G>A (p.Gly28921Glu)
|
rs1553559912
|
|
|
NM_001267550.2(TTN):c.86763A>G (p.Gly28921=)
|
|
|
|
NM_001267550.2(TTN):c.86799A>G (p.Thr28933=)
|
|
|
|
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)
|
rs727504856
|
|
|
NM_001267550.2(TTN):c.86811A>C (p.Val28937=)
|
rs55972010
|
|
|
NM_001267550.2(TTN):c.86821+12G>T
|
rs2154157712
|
|
|
NM_001267550.2(TTN):c.86821+1G>A
|
rs1702741860
|
|
|
NM_001267550.2(TTN):c.86821+20A>C
|
rs2154157704
|
|
|
NM_001267550.2(TTN):c.86821+8T>C
|
|
|
|
NM_001267550.2(TTN):c.86822-14C>T
|
|
|
|
NM_001267550.2(TTN):c.86822-14_86822-11dup
|
|
|
|
NM_001267550.2(TTN):c.86822-1del
|
|
|
|
NM_001267550.2(TTN):c.86822-7T>G
|
rs2154156798
|
|
|
NM_001267550.2(TTN):c.86822-8T>C
|
|
|
|
NM_001267550.2(TTN):c.86822-8T>G
|
|
|
|
NM_001267550.2(TTN):c.8682T>C (p.Pro2894=)
|
|
|
|
NM_001267550.2(TTN):c.86851G>C (p.Val28951Leu)
|
rs878854426
|
|
|
NM_001267550.2(TTN):c.8687C>T (p.Thr2896Ile)
|
rs72647884
|
|
|
NM_001267550.2(TTN):c.86880C>G (p.Ser28960=)
|
rs2154156731
|
|
|
NM_001267550.2(TTN):c.86889G>A (p.Trp28963Ter)
|
rs1702376984
|
|
|
NM_001267550.2(TTN):c.86889del (p.Trp28963fs)
|
rs1559268818
|
|
|
NM_001267550.2(TTN):c.86892G>A (p.Leu28964=)
|
rs2154156709
|
|
|
NM_001267550.2(TTN):c.86905del (p.Asp28969fs)
|
|
|
|
NM_001267550.2(TTN):c.86911G>T (p.Gly28971Ter)
|
|
|
|
NM_001267550.2(TTN):c.86919A>G (p.Arg28973=)
|
|
|
|
NM_001267550.2(TTN):c.86931T>C (p.Tyr28977=)
|
|
|
|
NM_001267550.2(TTN):c.86944C>T (p.Leu28982=)
|
|
|
|
NM_001267550.2(TTN):c.86964C>T (p.Asn28988=)
|
|
|
|
NM_001267550.2(TTN):c.86966G>A (p.Trp28989Ter)
|
rs1702355636
|
|
|
NM_001267550.2(TTN):c.86975del (p.Cys28992fs)
|
|
|
|
NM_001267550.2(TTN):c.86976T>C (p.Cys28992=)
|
rs2154156622
|
|
|
NM_001267550.2(TTN):c.8697C>G (p.Ala2899=)
|
|
|
|
NM_001267550.2(TTN):c.86997T>C (p.His28999=)
|
|
|
|
NM_001267550.2(TTN):c.87003T>C (p.Val29001=)
|
rs371894087
|
|
|
NM_001267550.2(TTN):c.87004_87005del (p.Val29002fs)
|
|
|
|
NM_001267550.2(TTN):c.87009C>T (p.Ser29003=)
|
|
|
|
NM_001267550.2(TTN):c.87018A>G (p.Arg29006=)
|
|
|
|
NM_001267550.2(TTN):c.87019_87022del (p.Glu29007fs)
|
rs1559267059
|
|
|
NM_001267550.2(TTN):c.87028del (p.Glu29010fs)
|
rs1702337235
|
|
|
NM_001267550.2(TTN):c.87046_87049del (p.Phe29016fs)
|
rs1575592653
|
|
|
NM_001267550.2(TTN):c.87048T>C (p.Phe29016=)
|
|
|
|
NM_001267550.2(TTN):c.87051T>C (p.Ala29017=)
|
rs2154156544
|
|
|
NM_001267550.2(TTN):c.87063T>C (p.Ala29021=)
|
|
|
|
NM_001267550.2(TTN):c.87069G>A (p.Leu29023=)
|
|
|
|
NM_001267550.2(TTN):c.87077dup (p.Arg29027fs)
|
|
|
|
NM_001267550.2(TTN):c.87078G>C (p.Pro29026=)
|
rs772691207
|
|
|
NM_001267550.2(TTN):c.87106A>T (p.Lys29036Ter)
|
|
|
|
NM_001267550.2(TTN):c.87116_87117dup (p.Glu29040Ter)
|
rs2154156468
|
|
|
NM_001267550.2(TTN):c.87118+15G>A
|
|
|
|
NM_001267550.2(TTN):c.87118+17G>A
|
|
|
|
NM_001267550.2(TTN):c.87118+19A>G
|
|
|
|
NM_001267550.2(TTN):c.87118+1G>A
|
|
|
|
NM_001267550.2(TTN):c.87118+9A>G
|
rs535870147
|
|
|
NM_001267550.2(TTN):c.87119-15A>G
|
|
|
|
NM_001267550.2(TTN):c.87137_87138del (p.Met29046fs)
|
rs1702243883
|
|
|
NM_001267550.2(TTN):c.87145T>C (p.Phe29049Leu)
|
rs1553556217
|
|
|
NM_001267550.2(TTN):c.87150A>C (p.Pro29050=)
|
|
|
|
NM_001267550.2(TTN):c.87159T>C (p.Thr29053=)
|
|
|
|
NM_001267550.2(TTN):c.8715G>A (p.Val2905=)
|
|
|
|
NM_001267550.2(TTN):c.87165T>C (p.Tyr29055=)
|
|
|
|
NM_001267550.2(TTN):c.87179C>G (p.Ser29060Ter)
|
|
|
|
NM_001267550.2(TTN):c.87222C>T (p.Pro29074=)
|
|
|
|
NM_001267550.2(TTN):c.87233T>G (p.Leu29078Ter)
|
rs2154156172
|
|
|
NM_001267550.2(TTN):c.87238del (p.Arg29080fs)
|
|
|
|
NM_001267550.2(TTN):c.87253del (p.Lys29086fs)
|
rs2154156150
|
|
|
NM_001267550.2(TTN):c.87253delinsTTA (p.Lys29086fs)
|
rs1702209747
|
|
|
NM_001267550.2(TTN):c.87273dup (p.Asn29092Ter)
|
|
|
|
NM_001267550.2(TTN):c.8727T>C (p.Asn2909=)
|
rs2091209780
|
|
|
NM_001267550.2(TTN):c.87285T>C (p.Ile29095=)
|
rs2154156132
|
|
|
NM_001267550.2(TTN):c.87295_87296insT (p.Asn29099fs)
|
|
|
|
NM_001267550.2(TTN):c.87300G>A (p.Leu29100=)
|
|
|
|
NM_001267550.2(TTN):c.87318A>G (p.Glu29106=)
|
|
|
|
NM_001267550.2(TTN):c.87336T>C (p.Ala29112=)
|
rs1553555529
|
|
|
NM_001267550.2(TTN):c.87340A>T (p.Arg29114Ter)
|
|
|
|
NM_001267550.2(TTN):c.87346_87368dup (p.Ser29123fs)
|
|
|
|
NM_001267550.2(TTN):c.87355del (p.Ala29119fs)
|
rs794729356
|
|
|
NM_001267550.2(TTN):c.87366del (p.Ser29123fs)
|
rs2154156075
|
|
|
NM_001267550.2(TTN):c.87376_87383dup (p.Phe29129fs)
|
rs1702151195
|
|
|
NM_001267550.2(TTN):c.87387C>T (p.Phe29129=)
|
rs1335641292
|
|
|
NM_001267550.2(TTN):c.87390T>A (p.Ile29130=)
|
rs876657616
|
|
|
NM_001267550.2(TTN):c.87407A>C (p.Asp29136Ala)
|
rs768756948
|
|
|
NM_001267550.2(TTN):c.87414T>A (p.Pro29138=)
|
rs1182592618
|
|
|
NM_001267550.2(TTN):c.87414T>C (p.Pro29138=)
|
|
|
|
NM_001267550.2(TTN):c.87429C>T (p.Gly29143=)
|
rs1702137024
|
|
|
NM_001267550.2(TTN):c.87451del (p.Thr29151fs)
|
rs2154156000
|
|
|
NM_001267550.2(TTN):c.87470_87471del (p.Leu29157fs)
|
rs2154155985
|
|
|
NM_001267550.2(TTN):c.87480G>A (p.Glu29160=)
|
rs1702118701
|
|
|
NM_001267550.2(TTN):c.87505C>T (p.Gln29169Ter)
|
|
|
|
NM_001267550.2(TTN):c.87515dup (p.Asn29172fs)
|
|
|
|
NM_001267550.2(TTN):c.87516C>T (p.Asn29172=)
|
|
|
|
NM_001267550.2(TTN):c.87519C>T (p.Tyr29173=)
|
rs2154155954
|
|
|
NM_001267550.2(TTN):c.87532_87538del (p.Arg29178fs)
|
rs2154155943
|
|
|
NM_001267550.2(TTN):c.87535G>C (p.Glu29179Gln)
|
rs1553554743
|
|
|
NM_001267550.2(TTN):c.87549A>T (p.Ala29183=)
|
|
|
|
NM_001267550.2(TTN):c.8754T>G (p.Gly2918=)
|
rs774883468
|
|
|
NM_001267550.2(TTN):c.87554G>A (p.Trp29185Ter)
|
rs1057518275
|
|
|
NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter)
|
rs1060500586
|
|
|
NM_001267550.2(TTN):c.87564G>T (p.Val29188=)
|
|
|
|
NM_001267550.2(TTN):c.87566_87567del (p.Ser29189fs)
|
rs2154155928
|
|
|
NM_001267550.2(TTN):c.87576T>G (p.Val29192=)
|
|
|
|
NM_001267550.2(TTN):c.87609C>T (p.Thr29203=)
|
|
|
|
NM_001267550.2(TTN):c.87618A>G (p.Glu29206=)
|
|
|
|
NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter)
|
rs772121356
|
|
|
NM_001267550.2(TTN):c.87624C>G (p.Tyr29208Ter)
|
|
|
|
NM_001267550.2(TTN):c.87624C>T (p.Tyr29208=)
|
|
|
|
NM_001267550.2(TTN):c.87627A>G (p.Gln29209=)
|
|
|
|
NM_001267550.2(TTN):c.87639G>A (p.Lys29213=)
|
rs1001957031
|
|
|
NM_001267550.2(TTN):c.87664dup (p.Asp29222fs)
|
rs2154155844
|
|
|
NM_001267550.2(TTN):c.87666T>C (p.Asp29222=)
|
|
|
|
NM_001267550.2(TTN):c.87678A>T (p.Ser29226=)
|
rs1702056267
|
|
|
NM_001267550.2(TTN):c.87702A>G (p.Pro29234=)
|
rs1553554080
|
|
|
NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter)
|
rs1575584918
|
|
|
NM_001267550.2(TTN):c.87706+11C>G
|
|
|
|
NM_001267550.2(TTN):c.87706+17T>C
|
|
|
|
NM_001267550.2(TTN):c.87706+18T>C
|
|
|
|
NM_001267550.2(TTN):c.87707-14del
|
|
|
|
NM_001267550.2(TTN):c.87707-15T>C
|
|
|
|
NM_001267550.2(TTN):c.87707-19G>C
|
|
|
|
NM_001267550.2(TTN):c.87707dup (p.Thr29237fs)
|
rs1575583160
|
|
|
NM_001267550.2(TTN):c.87716del (p.Gly29239fs)
|
rs869312028
|
|
|
NM_001267550.2(TTN):c.87733T>C (p.Trp29245Arg)
|
rs771722716
|
|
|
NM_001267550.2(TTN):c.87733dup (p.Trp29245fs)
|
rs1553553671
|
|
|
NM_001267550.2(TTN):c.87734G>A (p.Trp29245Ter)
|
rs1701973330
|
|
|
NM_001267550.2(TTN):c.87744T>C (p.Asn29248=)
|
|
|
|
NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter)
|
rs794729299
|
|
|
NM_001267550.2(TTN):c.87753A>C (p.Arg29251=)
|
|
|
|
NM_001267550.2(TTN):c.87764del (p.Thr29255fs)
|
rs2154155659
|
|
|
NM_001267550.2(TTN):c.87783A>C (p.Pro29261=)
|
|
|
|
NM_001267550.2(TTN):c.87789A>C (p.Ser29263=)
|
rs2154155643
|
|
|
NM_001267550.2(TTN):c.87795A>T (p.Gly29265=)
|
rs1383573621
|
|
|
NM_001267550.2(TTN):c.87813C>T (p.Gly29271=)
|
rs751701021
|
|
|
NM_001267550.2(TTN):c.87816T>A (p.Tyr29272Ter)
|
|
|
|
NM_001267550.2(TTN):c.87819C>T (p.His29273=)
|
rs2154155624
|
|
|
NM_001267550.2(TTN):c.8781dup (p.Lys2928fs)
|
|
|
|
NM_001267550.2(TTN):c.87834C>T (p.Asp29278=)
|
rs2154155620
|
|
|
NM_001267550.2(TTN):c.87834_87835del (p.Asp29278fs)
|
rs2154155619
|
|
|
NM_001267550.2(TTN):c.87834_87837del (p.Asp29278fs)
|
|
|
|
NM_001267550.2(TTN):c.87835del (p.Arg29279fs)
|
rs2154155616
|
|
|
NM_001267550.2(TTN):c.87836_87837del (p.Arg29279fs)
|
rs2154155607
|
|
|
NM_001267550.2(TTN):c.87837A>G (p.Arg29279=)
|
|
|
|
NM_001267550.2(TTN):c.87848T>G (p.Leu29283Ter)
|
|
|
|
NM_001267550.2(TTN):c.8784G>A (p.Lys2928=)
|
|
|
|
NM_001267550.2(TTN):c.87852G>A (p.Trp29284Ter)
|
rs1701925645
|
|
|
NM_001267550.2(TTN):c.87885T>G (p.Thr29295=)
|
|
|
|
NM_001267550.2(TTN):c.87888del (p.Phe29297fs)
|
rs1060500399
|
|
|
NM_001267550.2(TTN):c.8789_8796del (p.Val2930fs)
|
rs1574559518
|
|
|
NM_001267550.2(TTN):c.87903A>G (p.Thr29301=)
|
|
|
|
NM_001267550.2(TTN):c.87904A>T (p.Ile29302Phe)
|
rs1553552999
|
|
|
NM_001267550.2(TTN):c.87927A>G (p.Glu29309=)
|
rs2154155557
|
|
|
NM_001267550.2(TTN):c.87931_87935dup (p.Tyr29313fs)
|
rs2154155550
|
|
|
NM_001267550.2(TTN):c.87933G>A (p.Arg29311=)
|
rs1325675000
|
|
|
NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter)
|
rs200314496
|
|
|
NM_001267550.2(TTN):c.8793G>T (p.Val2931=)
|
rs2091196852
|
|
|
NM_001267550.2(TTN):c.87947del (p.Asn29316fs)
|
|
|
|
NM_001267550.2(TTN):c.87954del (p.Gly29319fs)
|
rs2154155537
|
|
|
NM_001267550.2(TTN):c.87969T>C (p.Pro29323=)
|
|
|
|
NM_001267550.2(TTN):c.87975T>C (p.His29325=)
|
|
|
|
NM_001267550.2(TTN):c.87977del (p.Pro29326fs)
|
|
|
|
NM_001267550.2(TTN):c.87978T>C (p.Pro29326=)
|
rs1575580608
|
|
|
NM_001267550.2(TTN):c.87993G>A (p.Leu29331=)
|
rs2154155505
|
|
|
NM_001267550.2(TTN):c.88005T>C (p.Ala29335=)
|
rs759288771
|
|
|
NM_001267550.2(TTN):c.88009+13C>T
|
rs397517739
|
|
|
NM_001267550.2(TTN):c.88009+14A>G
|
|
|
|
NM_001267550.2(TTN):c.88009+15T>C
|
|
|
|
NM_001267550.2(TTN):c.88009+20A>G
|
|
|
|
NM_001267550.2(TTN):c.88009+2T>G
|
rs1701869111
|
|
|
NM_001267550.2(TTN):c.88010-15_88010-11del
|
rs1701807349
|
|
|
NM_001267550.2(TTN):c.88010-16T>G
|
|
|
|
NM_001267550.2(TTN):c.88010-17T>C
|
|
|
|
NM_001267550.2(TTN):c.88014C>T (p.Pro29338=)
|
|
|
|
NM_001267550.2(TTN):c.88033A>G (p.Thr29345Ala)
|
rs878854427
|
|
|
NM_001267550.2(TTN):c.88038T>C (p.Asp29346=)
|
|
|
|
NM_001267550.2(TTN):c.88047G>C (p.Lys29349Asn)
|
rs748102856
|
|
|
NM_001267550.2(TTN):c.88050C>T (p.Asn29350=)
|
|
|
|
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)
|
rs878854428
|
|
|
NM_001267550.2(TTN):c.88083C>T (p.Phe29361=)
|
rs746746013
|
|
|
NM_001267550.2(TTN):c.88091_88094del (p.Gly29364fs)
|
rs2154155280
|
|
|
NM_001267550.2(TTN):c.88092dup (p.Ser29365Ter)
|
|
|
|
NM_001267550.2(TTN):c.88098G>A (p.Lys29366=)
|
rs2154155276
|
|
|
NM_001267550.2(TTN):c.88106G>A (p.Gly29369Asp)
|
rs55898359
|
|
|
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr)
|
rs767890385
|
|
|
NM_001267550.2(TTN):c.8811G>A (p.Gln2937=)
|
|
|
|
NM_001267550.2(TTN):c.88149C>G (p.Thr29383=)
|
|
|
|
NM_001267550.2(TTN):c.88155C>T (p.Ala29385=)
|
|
|
|
NM_001267550.2(TTN):c.88173T>C (p.Thr29391=)
|
|
|
|
NM_001267550.2(TTN):c.88177del (p.Thr29393fs)
|
rs1575576927
|
|
|
NM_001267550.2(TTN):c.8817C>T (p.Ile2939=)
|
|
|
|
NM_001267550.2(TTN):c.88191C>T (p.Ile29397=)
|
|
|
|
NM_001267550.2(TTN):c.88197C>A (p.Gly29399=)
|
rs886498056
|
|
|
NM_001267550.2(TTN):c.88198T>C (p.Leu29400=)
|
rs2154155200
|
|
|
NM_001267550.2(TTN):c.88204C>T (p.Gln29402Ter)
|
rs1701741963
|
|
|
NM_001267550.2(TTN):c.8820C>T (p.Ile2940=)
|
|
|
|
NM_001267550.2(TTN):c.88224C>T (p.Phe29408=)
|
rs1701738144
|
|
|
NM_001267550.2(TTN):c.88227T>C (p.Arg29409=)
|
|
|
|
NM_001267550.2(TTN):c.88236T>G (p.Ala29412=)
|
rs781427598
|
|
|
NM_001267550.2(TTN):c.88238G>A (p.Arg29413Lys)
|
rs1553551467
|
|
|
NM_001267550.2(TTN):c.88239G>A (p.Arg29413=)
|
|
|
|
NM_001267550.2(TTN):c.88245T>G (p.Ala29415=)
|
rs2154155179
|
|
|
NM_001267550.2(TTN):c.88248T>C (p.Val29416=)
|
rs794727458
|
|
|
NM_001267550.2(TTN):c.88254C>T (p.Ser29418=)
|
|
|
|
NM_001267550.2(TTN):c.88299T>C (p.Asp29433=)
|
rs2154155146
|
|
|
NM_001267550.2(TTN):c.88306+1G>C
|
rs727503550
|
|
|
NM_001267550.2(TTN):c.88307-13G>A
|
|
|
|
NM_001267550.2(TTN):c.88307-16T>C
|
|
|
|
NM_001267550.2(TTN):c.88307-17A>C
|
|
|
|
NM_001267550.2(TTN):c.88307-18C>T
|
rs547409426
|
|
|
NM_001267550.2(TTN):c.88307-1G>A
|
|
|
|
NM_001267550.2(TTN):c.88307-8T>C
|
|
|
|
NM_001267550.2(TTN):c.88311T>C (p.Gly29437=)
|
rs878854429
|
|
|
NM_001267550.2(TTN):c.88313dup (p.Val29439fs)
|
rs2154153508
|
|
|
NM_001267550.2(TTN):c.88323T>C (p.Asp29441=)
|
|
|
|
NM_001267550.2(TTN):c.88329T>A (p.Pro29443=)
|
rs1287677844
|
|
|
NM_001267550.2(TTN):c.8832C>T (p.Ser2944=)
|
rs773424866
|
|
|
NM_001267550.2(TTN):c.88338T>C (p.Tyr29446=)
|
|
|
|
NM_001267550.2(TTN):c.88350C>G (p.Val29450=)
|
rs568111586
|
|
|
NM_001267550.2(TTN):c.88410T>A (p.Pro29470=)
|
rs1575552995
|
|
|
NM_001267550.2(TTN):c.88413T>C (p.Thr29471=)
|
rs748945007
|
|
|
NM_001267550.2(TTN):c.8841C>T (p.Asp2947=)
|
|
|
|
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter)
|
rs1553547657
|
|
|
NM_001267550.2(TTN):c.88437dup (p.Glu29480fs)
|
rs2154153430
|
|
|
NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu)
|
rs397517763
|
|
|
NM_001267550.2(TTN):c.8844G>T (p.Ser2948=)
|
rs531976829
|
|
|
NM_001267550.2(TTN):c.88462dup (p.Cys29488fs)
|
rs2154153413
|
|
|
NM_001267550.2(TTN):c.88473T>C (p.Asn29491=)
|
rs2154153410
|
|
|
NM_001267550.2(TTN):c.88482C>T (p.Asp29494=)
|
|
|
|
NM_001267550.2(TTN):c.88488A>G (p.Ala29496=)
|
|
|
|
NM_001267550.2(TTN):c.88512T>C (p.Asp29504=)
|
rs1575551717
|
|
|
NM_001267550.2(TTN):c.88521_88522del (p.Asn29507fs)
|
|
|
|
NM_001267550.2(TTN):c.8853C>T (p.Tyr2951=)
|
rs1574558551
|
|
|
NM_001267550.2(TTN):c.88545A>G (p.Leu29515=)
|
rs1553547309
|
|
|
NM_001267550.2(TTN):c.88562C>A (p.Ser29521Ter)
|
rs1436663696
|
|
|
NM_001267550.2(TTN):c.88569A>G (p.Ser29523=)
|
rs2154153349
|
|
|
NM_001267550.2(TTN):c.8856A>G (p.Thr2952=)
|
|
|
|
NM_001267550.2(TTN):c.8856A>T (p.Thr2952=)
|
rs2091184930
|
|
|
NM_001267550.2(TTN):c.8858_8859del (p.Phe2953fs)
|
rs2154342483
|
|
|
NM_001267550.2(TTN):c.88590C>T (p.Ile29530=)
|
|
|
|
NM_001267550.2(TTN):c.88593T>C (p.Leu29531=)
|
rs1553547141
|
|
|
NM_001267550.2(TTN):c.88594+16A>T
|
|
|
|
NM_001267550.2(TTN):c.88594+17G>A
|
|
|
|
NM_001267550.2(TTN):c.88594+19C>T
|
|
|
|
NM_001267550.2(TTN):c.88594+1G>T
|
rs794727467
|
|
|
NM_001267550.2(TTN):c.88594+20C>T
|
|
|
|
NM_001267550.2(TTN):c.88594+2T>G
|
rs1057520744
|
|
|
NM_001267550.2(TTN):c.88594+5G>T
|
|
|
|
NM_001267550.2(TTN):c.88594_88595insGTAGGTGCTGAATACAGACCACTGTCATATTACATTTGCCTAAAGCTTAGTAATTTTGAACAAGTAGGCTTTAAAGAAGTACTAACATCGTGTTTTGTCCTTTCACTGATAGACAAACCAGGCCCACCTGGTGGACCAATTGAATTTAAGACTGTAACTGCTGAGAAGATCACCCTTCTCTGGCGGCCTCCAGCTGATGATGGTGGTGAAACCTGCGCCTACTATTGAGTGGTATAAAGATGATAAAGAATTACAAACCAATGCACTGGTGTGTGTTGAAAATACCACGGACCTCGCATCTATACTCATCAAAGATGCCGATCGCCTTAATAGTGGATGCTATGAATTAAAACTAAGGAATGCCATGGGCTCAGCCTCAGCCACCATCAGAGTACAGATCCTTGGTAGGTGCTGAATACAGACCACTGTCATATTACATTTGCCTAAAGCTTAGTAATTTTGAACAAGTAGGCTTTAAAGAAGTACTAACATCGTGTTTTGTCCTTTCACTGATAG (p.Asp29532delinsGlyArgCysTer)
|
|
|
|
NM_001267550.2(TTN):c.88595-15T>G
|
|
|
|
NM_001267550.2(TTN):c.88595-6T>C
|
rs1553546842
|
|
|
NM_001267550.2(TTN):c.88595-6T>G
|
rs1553546842
|
|
|
NM_001267550.2(TTN):c.88595-8A>G
|
rs775537214
|
|
|
NM_001267550.2(TTN):c.88595-9C>G
|
rs1559233127
|
|
|
NM_001267550.2(TTN):c.88599A>G (p.Lys29533=)
|
|
|
|
NM_001267550.2(TTN):c.885C>T (p.His295=)
|
|
|
|
NM_001267550.2(TTN):c.88602A>C (p.Pro29534=)
|
|
|
|
NM_001267550.2(TTN):c.88611T>C (p.Pro29537=)
|
rs555380931
|
|
|
NM_001267550.2(TTN):c.8862C>T (p.Val2954=)
|
|
|
|
NM_001267550.2(TTN):c.88635T>C (p.Thr29545=)
|
rs2154153170
|
|
|
NM_001267550.2(TTN):c.88662C>A (p.Leu29554=)
|
|
|
|
NM_001267550.2(TTN):c.88683T>C (p.Asp29561=)
|
rs879237120
|
|
|
NM_001267550.2(TTN):c.88694A>C (p.Lys29565Thr)
|
rs1263180064
|
|
|
NM_001267550.2(TTN):c.88703_88704del (p.His29568fs)
|
rs794729360
|
|
|
NM_001267550.2(TTN):c.88708A>C (p.Ile29570Leu)
|
rs139506970
|
|
|
NM_001267550.2(TTN):c.88713G>A (p.Val29571=)
|
|
|
|
NM_001267550.2(TTN):c.88721del (p.Arg29574fs)
|
rs1575547155
|
|
|
NM_001267550.2(TTN):c.88722T>G (p.Arg29574=)
|
rs775188663
|
|
|
NM_001267550.2(TTN):c.88734C>G (p.Arg29578=)
|
rs749107962
|
|
|
NM_001267550.2(TTN):c.88740G>T (p.Val29580=)
|
rs767611128
|
|
|
NM_001267550.2(TTN):c.88770G>A (p.Glu29590=)
|
|
|
|
NM_001267550.2(TTN):c.88773C>T (p.Cys29591=)
|
|
|
|
NM_001267550.2(TTN):c.88781C>A (p.Thr29594Lys)
|
rs1553545836
|
|
|
NM_001267550.2(TTN):c.88782A>G (p.Thr29594=)
|
rs1553545831
|
|
|
NM_001267550.2(TTN):c.8880C>G (p.Val2960=)
|
rs748052681
|
|
|
NM_001267550.2(TTN):c.88812C>T (p.Tyr29604=)
|
|
|
|
NM_001267550.2(TTN):c.88815C>A (p.Ile29605=)
|
rs2154153004
|
|
|
NM_001267550.2(TTN):c.88821G>A (p.Arg29607=)
|
rs751654793
|
|
|
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)
|
rs766450773
|
|
|
NM_001267550.2(TTN):c.88829C>A (p.Ala29610Asp)
|
rs1060500410
|
|
|
NM_001267550.2(TTN):c.88836C>A (p.Asn29612Lys)
|
rs767347782
|
|
|
NM_001267550.2(TTN):c.8884del (p.Ala2962fs)
|
rs794729372
|
|
|
NM_001267550.2(TTN):c.88851C>T (p.Gly29617=)
|
rs201241167
|
|
|
NM_001267550.2(TTN):c.88852_88855del (p.Glu29618fs)
|
rs2154152955
|
|
|
NM_001267550.2(TTN):c.88854G>A (p.Glu29618=)
|
rs2154152956
|
|
|
NM_001267550.2(TTN):c.88877T>C (p.Val29626Ala)
|
rs766178585
|
|
|
NM_001267550.2(TTN):c.88894+20G>A
|
rs2154152899
|
|
|
NM_001267550.2(TTN):c.88894+5G>A
|
rs2154152920
|
|
|
NM_001267550.2(TTN):c.88894+9T>A
|
rs148034735
|
|
|
NM_001267550.2(TTN):c.88894+9T>C
|
|
|
|
NM_001267550.2(TTN):c.88895-12C>T
|
|
|
|
NM_001267550.2(TTN):c.88895-13C>T
|
rs2154152666
|
|
|
NM_001267550.2(TTN):c.88895-17C>T
|
|
|
|
NM_001267550.2(TTN):c.88895-1G>A
|
rs1575540533
|
|
|
NM_001267550.2(TTN):c.888G>A (p.Val296=)
|
rs2093944893
|
|
|
NM_001267550.2(TTN):c.8890C>T (p.Leu2964=)
|
rs2154342466
|
|
|
NM_001267550.2(TTN):c.88929A>G (p.Thr29643=)
|
|
|
|
NM_001267550.2(TTN):c.88938C>T (p.Thr29646=)
|
|
|
|
NM_001267550.2(TTN):c.88947G>T (p.Ser29649=)
|
|
|
|
NM_001267550.2(TTN):c.88953T>C (p.Thr29651=)
|
|
|
|
NM_001267550.2(TTN):c.88954_88955del (p.Val29652fs)
|
|
|
|
NM_001267550.2(TTN):c.88979_88985del (p.Asp29660fs)
|
rs794727468
|
|
|
NM_001267550.2(TTN):c.89006del (p.Phe29669fs)
|
rs794729361
|
|
|
NM_001267550.2(TTN):c.89006dup (p.Leu29670fs)
|
rs794729361
|
|
|
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)
|
rs886038916
|
|
|
NM_001267550.2(TTN):c.89018G>T (p.Arg29673Leu)
|
rs200639218
|
|
|
NM_001267550.2(TTN):c.8902+12_8902+13del
|
rs774238749
|
|
|
NM_001267550.2(TTN):c.8902+12_8902+13insG
|
|
|
|
NM_001267550.2(TTN):c.8902+13del
|
rs774238749
|
|
|
NM_001267550.2(TTN):c.8902+14_8902+16del
|
|
|
|
NM_001267550.2(TTN):c.8902+19A>G
|
|
|
|
NM_001267550.2(TTN):c.89024AGA[1] (p.Lys29676del)
|
rs771616392
|
|
|
NM_001267550.2(TTN):c.89028G>A (p.Lys29676=)
|
|
|
|
NM_001267550.2(TTN):c.8902C>G (p.Pro2968Ala)
|
rs773875566
|
|
|
NM_001267550.2(TTN):c.8903-11C>T
|
rs1319818470
|
|
|
NM_001267550.2(TTN):c.8903-17dup
|
|
|
|
NM_001267550.2(TTN):c.8903-2A>T
|
|
|
|
NM_001267550.2(TTN):c.89052A>T (p.Leu29684=)
|
rs1389119897
|
|
|
NM_001267550.2(TTN):c.89053A>T (p.Lys29685Ter)
|
|
|
|
NM_001267550.2(TTN):c.89075_89078del (p.Arg29692fs)
|
|
|
|
NM_001267550.2(TTN):c.89076A>G (p.Arg29692=)
|
|
|
|
NM_001267550.2(TTN):c.89077C>T (p.Gln29693Ter)
|
|
|
|
NM_001267550.2(TTN):c.8907C>T (p.Ile2969=)
|
rs2154342022
|
|
|
NM_001267550.2(TTN):c.89083del (p.Lys29694_Val29695insTer)
|
rs2154152514
|
|
|
NM_001267550.2(TTN):c.89118C>A (p.Tyr29706Ter)
|
rs1700331549
|
|
|
NM_001267550.2(TTN):c.89121_89122del (p.Arg29707fs)
|
rs2154152480
|
|
|
NM_001267550.2(TTN):c.89130T>A (p.Ala29710=)
|
|
|
|
NM_001267550.2(TTN):c.89144dup (p.Gln29716fs)
|
|
|
|
NM_001267550.2(TTN):c.89150del (p.Gly29717fs)
|
rs2154152449
|
|
|
NM_001267550.2(TTN):c.89154A>T (p.Pro29718=)
|
|
|
|
NM_001267550.2(TTN):c.89166A>G (p.Pro29722=)
|
|
|
|
NM_001267550.2(TTN):c.89178C>G (p.Tyr29726Ter)
|
|
|
|
NM_001267550.2(TTN):c.89187T>C (p.Ala29729=)
|
rs1401647603
|
|
|
NM_001267550.2(TTN):c.89190T>C (p.Asp29730=)
|
rs2154152422
|
|
|
NM_001267550.2(TTN):c.89195T>A (p.Ile29732Asn)
|
rs769020530
|
|
|
NM_001267550.2(TTN):c.89197+2T>G
|
rs1575536935
|
|
|
NM_001267550.2(TTN):c.89197+2dup
|
rs2154152416
|
|
|
NM_001267550.2(TTN):c.89197+5G>A
|
rs1060500534
|
|
|
NM_001267550.2(TTN):c.89198-10G>A
|
rs2154152302
|
|
|
NM_001267550.2(TTN):c.89198-13dup
|
|
|
|
NM_001267550.2(TTN):c.89198-19T>C
|
|
|
|
NM_001267550.2(TTN):c.89198-22_89198-18del
|
rs764521837
|
|
|
NM_001267550.2(TTN):c.89205A>C (p.Pro29735=)
|
|
|
|
NM_001267550.2(TTN):c.89205A>T (p.Pro29735=)
|
rs1575535200
|
|
|
NM_001267550.2(TTN):c.89217T>C (p.Ala29739=)
|
rs2154152285
|
|
|
NM_001267550.2(TTN):c.89222_89226del (p.Ile29741fs)
|
rs1575534947
|
|
|
NM_001267550.2(TTN):c.89229C>A (p.Ile29743=)
|
rs376853821
|
|
|
NM_001267550.2(TTN):c.89232A>T (p.Ala29744=)
|
|
|
|
NM_001267550.2(TTN):c.89240C>G (p.Thr29747Ser)
|
rs370568740
|
|
|
NM_001267550.2(TTN):c.89241C>A (p.Thr29747=)
|
|
|
|
NM_001267550.2(TTN):c.89241C>G (p.Thr29747=)
|
|
|
|
NM_001267550.2(TTN):c.89247A>G (p.Ser29749=)
|
rs2154152253
|
|
|
NM_001267550.2(TTN):c.89250C>T (p.Ser29750=)
|
rs1559221602
|
|
|
NM_001267550.2(TTN):c.89270del (p.Lys29757fs)
|
rs794729362
|
|
|
NM_001267550.2(TTN):c.89275_89278del (p.Val29759fs)
|
|
|
|
NM_001267550.2(TTN):c.89280T>A (p.Tyr29760Ter)
|
rs794729385
|
|
|
NM_001267550.2(TTN):c.89283T>C (p.Asp29761=)
|
|
|
|
NM_001267550.2(TTN):c.89298T>C (p.Val29766=)
|
rs2154152202
|
|
|
NM_001267550.2(TTN):c.89304G>T (p.Gly29768=)
|
rs2154152198
|
|
|
NM_001267550.2(TTN):c.89306_89307del (p.Tyr29769fs)
|
|
|
|
NM_001267550.2(TTN):c.89307T>A (p.Tyr29769Ter)
|
|
|
|
NM_001267550.2(TTN):c.89307T>G (p.Tyr29769Ter)
|
|
|
|
NM_001267550.2(TTN):c.89310T>C (p.Val29770=)
|
|
|
|
NM_001267550.2(TTN):c.89316G>A (p.Glu29772=)
|
rs2154152182
|
|
|
NM_001267550.2(TTN):c.8931C>T (p.Asp2977=)
|
|
|
|
NM_001267550.2(TTN):c.89322_89326del (p.Gln29775fs)
|
|
|
|
NM_001267550.2(TTN):c.89332del (p.Glu29778fs)
|
|
|
|
NM_001267550.2(TTN):c.89335G>T (p.Glu29779Ter)
|
rs2154152175
|
|
|
NM_001267550.2(TTN):c.89342G>A (p.Trp29781Ter)
|
|
|
|
NM_001267550.2(TTN):c.8934C>T (p.Ile2978=)
|
|
|
|
NM_001267550.2(TTN):c.89364A>G (p.Gly29788=)
|
rs2154152145
|
|
|
NM_001267550.2(TTN):c.89370C>T (p.Val29790=)
|
|
|
|
NM_001267550.2(TTN):c.89388G>A (p.Val29796=)
|
|
|
|
NM_001267550.2(TTN):c.8938_8939insTTGG (p.Ala2980fs)
|
|
|
|
NM_001267550.2(TTN):c.8938del (p.Ala2980fs)
|
|
|
|
NM_001267550.2(TTN):c.89400G>A (p.Leu29800=)
|
rs2154152127
|
|
|
NM_001267550.2(TTN):c.89409A>G (p.Gly29803=)
|
rs1700208985
|
|
|
NM_001267550.2(TTN):c.89425del (p.Arg29809fs)
|
|
|
|
NM_001267550.2(TTN):c.89439A>C (p.Val29813=)
|
|
|
|
NM_001267550.2(TTN):c.89445_89446del (p.Ala29816fs)
|
|
|
|
NM_001267550.2(TTN):c.89448T>A (p.Ala29816=)
|
|
|
|
NM_001267550.2(TTN):c.89457A>G (p.Gly29819=)
|
rs1553542686
|
|
|
NM_001267550.2(TTN):c.89463T>C (p.Pro29821=)
|
rs1215146152
|
|
|
NM_001267550.2(TTN):c.89475_89478del (p.Glu29826fs)
|
|
|
|
NM_001267550.2(TTN):c.89484A>T (p.Val29828=)
|
|
|
|
NM_001267550.2(TTN):c.89494G>C (p.Asp29832His)
|
rs878854430
|
|
|
NM_001267550.2(TTN):c.89500C>G (p.Leu29834Val)
|
rs761591533
|
|
|
NM_001267550.2(TTN):c.89503+10T>C
|
|
|
|
NM_001267550.2(TTN):c.89503+12C>A
|
rs72648239
|
|
|
NM_001267550.2(TTN):c.89503+17T>G
|
|
|
|
NM_001267550.2(TTN):c.89503+1G>C
|
rs1559218619
|
|
|
NM_001267550.2(TTN):c.89503+5G>T
|
rs2154152059
|
|
|
NM_001267550.2(TTN):c.89503+7A>T
|
rs746577107
|
|
|
NM_001267550.2(TTN):c.89504-20T>C
|
|
|
|
NM_001267550.2(TTN):c.89504-2_89509del
|
|
|
|
NM_001267550.2(TTN):c.89504-6C>T
|
|
|
|
NM_001267550.2(TTN):c.89526T>C (p.Asp29842=)
|
|
|
|
NM_001267550.2(TTN):c.8952C>T (p.Asp2984=)
|
rs2090998032
|
|
|
NM_001267550.2(TTN):c.89553del (p.Ala29853fs)
|
rs1575529262
|
|
|
NM_001267550.2(TTN):c.8955T>G (p.Thr2985=)
|
rs774980824
|
|
|
NM_001267550.2(TTN):c.89589T>C (p.Phe29863=)
|
|
|
|
NM_001267550.2(TTN):c.89610T>C (p.Thr29870=)
|
rs2154151869
|
|
|
NM_001267550.2(TTN):c.89619dup (p.Arg29874fs)
|
|
|
|
NM_001267550.2(TTN):c.89625del (p.Asp29876fs)
|
rs1559216544
|
|
|
NM_001267550.2(TTN):c.89658C>A (p.Tyr29886Ter)
|
rs1700085960
|
|
|
NM_001267550.2(TTN):c.89684C>G (p.Ser29895Ter)
|
|
|
|
NM_001267550.2(TTN):c.89685A>T (p.Ser29895=)
|
|
|
|
NM_001267550.2(TTN):c.89704G>A (p.Val29902Ile)
|
|
|
|
NM_001267550.2(TTN):c.89712C>G (p.Arg29904=)
|
rs1461570315
|
|
|
NM_001267550.2(TTN):c.89721A>C (p.Thr29907=)
|
rs773008865
|
|
|
NM_001267550.2(TTN):c.89730T>C (p.Tyr29910=)
|
rs2154151804
|
|
|
NM_001267550.2(TTN):c.89739A>T (p.Thr29913=)
|
rs1338237149
|
|
|
NM_001267550.2(TTN):c.8973A>G (p.Thr2991=)
|
rs377447652
|
|
|
NM_001267550.2(TTN):c.89757T>C (p.Gly29919=)
|
|
|
|
NM_001267550.2(TTN):c.89776G>A (p.Val29926Met)
|
rs1553541468
|
|
|
NM_001267550.2(TTN):c.89786_89787dup (p.Val29930fs)
|
|
|
|
NM_001267550.2(TTN):c.89790G>T (p.Val29930=)
|
|
|
|
NM_001267550.2(TTN):c.89793T>G (p.Leu29931=)
|
rs1700038225
|
|
|
NM_001267550.2(TTN):c.897G>A (p.Pro299=)
|
|
|
|
NM_001267550.2(TTN):c.897G>C (p.Pro299=)
|
|
|
|
NM_001267550.2(TTN):c.89827A>T (p.Lys29943Ter)
|
rs2154151737
|
|
|
NM_001267550.2(TTN):c.8982T>C (p.Tyr2994=)
|
|
|
|
NM_001267550.2(TTN):c.89838T>C (p.Ser29946=)
|
|
|
|
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter)
|
rs727505224
|
|
|
NM_001267550.2(TTN):c.89841A>G (p.Arg29947=)
|
|
|
|
NM_001267550.2(TTN):c.89844C>T (p.Gly29948=)
|
rs1700022340
|
|
|
NM_001267550.2(TTN):c.8985A>G (p.Glu2995=)
|
rs1574542823
|
|
|
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter)
|
rs1060500457
|
|
|
NM_001267550.2(TTN):c.89880T>C (p.Asp29960=)
|
rs2154151704
|
|
|
NM_001267550.2(TTN):c.89882_89885del (p.Gly29961fs)
|
rs2154151697
|
|
|
NM_001267550.2(TTN):c.89884G>T (p.Gly29962Ter)
|
rs2154151700
|
|
|
NM_001267550.2(TTN):c.89892A>G (p.Pro29964=)
|
rs1057523342
|
|
|
NM_001267550.2(TTN):c.8989A>G (p.Ile2997Val)
|
rs879242806
|
|
|
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs)
|
rs869312081
|
|
|
NM_001267550.2(TTN):c.89919A>G (p.Arg29973=)
|
|
|
|
NM_001267550.2(TTN):c.89940del (p.Trp29980fs)
|
|
|
|
NM_001267550.2(TTN):c.89953C>T (p.His29985Tyr)
|
rs557248616
|
|
|
NM_001267550.2(TTN):c.89955C>T (p.His29985=)
|
rs1327715051
|
|
|
NM_001267550.2(TTN):c.89970A>G (p.Thr29990=)
|
|
|
|
NM_001267550.2(TTN):c.89976C>T (p.Phe29992=)
|
|
|
|
NM_001267550.2(TTN):c.89979del (p.Lys29993fs)
|
|
|
|
NM_001267550.2(TTN):c.8997del (p.Ser2998_Tyr2999insTer)
|
|
|
|
NM_001267550.2(TTN):c.89989T>C (p.Leu29997=)
|
rs369855092
|
|
|
NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter)
|
rs376543931
|
|
|
NM_001267550.2(TTN):c.89994G>C (p.Ser29998=)
|
|
|
|
NM_001267550.2(TTN):c.89G>A (p.Ser30Asn)
|
rs767153909
|
|
|
NM_001267550.2(TTN):c.90003T>C (p.Thr30001=)
|
|
|
|
NM_001267550.2(TTN):c.9000A>G (p.Lys3000=)
|
|
|
|
NM_001267550.2(TTN):c.90058G>T (p.Glu30020Ter)
|
rs1699956677
|
|
|
NM_001267550.2(TTN):c.90085G>T (p.Glu30029Ter)
|
rs1699948037
|
|
|
NM_001267550.2(TTN):c.90087A>G (p.Glu30029=)
|
rs1699946648
|
|
|
NM_001267550.2(TTN):c.90113C>G (p.Ser30038Ter)
|
|
|
|
NM_001267550.2(TTN):c.90135dup (p.Ser30046fs)
|
|
|
|
NM_001267550.2(TTN):c.90141C>T (p.Val30047=)
|
|
|
|
NM_001267550.2(TTN):c.90147C>A (p.Leu30049=)
|
rs2154151504
|
|
|
NM_001267550.2(TTN):c.90152G>A (p.Trp30051Ter)
|
|
|
|
NM_001267550.2(TTN):c.90156C>T (p.Thr30052=)
|
rs755150088
|
|
|
NM_001267550.2(TTN):c.90168T>C (p.Phe30056=)
|
|
|
|
NM_001267550.2(TTN):c.9018G>A (p.Val3006=)
|
|
|
|
NM_001267550.2(TTN):c.90195T>A (p.Tyr30065Ter)
|
rs920201335
|
|
|
NM_001267550.2(TTN):c.90208_90209insSVAelement
|
|
|
|
NM_001267550.2(TTN):c.90223C>T (p.Gln30075Ter)
|
rs786205538
|
|
|
NM_001267550.2(TTN):c.90231G>A (p.Trp30077Ter)
|
rs2154151450
|
|
|
NM_001267550.2(TTN):c.90244A>G (p.Ile30082Val)
|
rs777636306
|
|
|
NM_001267550.2(TTN):c.90249del (p.Ser30083fs)
|
rs2154151435
|
|
|
NM_001267550.2(TTN):c.90276A>G (p.Gln30092=)
|
rs2154151401
|
|
|
NM_001267550.2(TTN):c.90282G>A (p.Lys30094=)
|
|
|
|
NM_001267550.2(TTN):c.90285G>A (p.Glu30095=)
|
rs1312515165
|
|
|
NM_001267550.2(TTN):c.90297G>A (p.Leu30099=)
|
|
|
|
NM_001267550.2(TTN):c.90306_90307del (p.Arg30102fs)
|
rs2154151379
|
|
|
NM_001267550.2(TTN):c.90309G>A (p.Val30103=)
|
rs1060503968
|
|
|
NM_001267550.2(TTN):c.90309G>C (p.Val30103=)
|
rs1060503968
|
|
|
NM_001267550.2(TTN):c.9030A>C (p.Ser3010=)
|
|
|
|
NM_001267550.2(TTN):c.9030A>G (p.Ser3010=)
|
rs1263075487
|
|
|
NM_001267550.2(TTN):c.90331C>T (p.Leu30111=)
|
rs1344947849
|
|
|
NM_001267550.2(TTN):c.90358del (p.Ile30120fs)
|
rs1699849996
|
|
|
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)
|
rs1553539995
|
|
|
NM_001267550.2(TTN):c.90384A>G (p.Thr30128=)
|
|
|
|
NM_001267550.2(TTN):c.90388G>T (p.Glu30130Ter)
|
rs2154151318
|
|
|
NM_001267550.2(TTN):c.90396C>T (p.Asp30132=)
|
rs1699833977
|
|
|
NM_001267550.2(TTN):c.90397C>T (p.Leu30133=)
|
rs2154151313
|
|
|
NM_001267550.2(TTN):c.90415_90421dup (p.Val30141fs)
|
rs1699828609
|
|
|
NM_001267550.2(TTN):c.90417A>G (p.Ala30139=)
|
|
|
|
NM_001267550.2(TTN):c.90418C>T (p.Gln30140Ter)
|
rs2154151302
|
|
|
NM_001267550.2(TTN):c.90451C>T (p.Leu30151Phe)
|
rs750520740
|
|
|
NM_001267550.2(TTN):c.9047del (p.Met3016fs)
|
|
|
|
NM_001267550.2(TTN):c.90486_90489del (p.Ile30163fs)
|
rs2154151260
|
|
|
NM_001267550.2(TTN):c.90495G>A (p.Trp30165Ter)
|
|
|
|
NM_001267550.2(TTN):c.9050del (p.Arg3017fs)
|
|
|
|
NM_001267550.2(TTN):c.90510G>A (p.Leu30170=)
|
rs2154151255
|
|
|
NM_001267550.2(TTN):c.90512C>T (p.Pro30171Leu)
|
rs2154151253
|
|
|
NM_001267550.2(TTN):c.90561T>A (p.Ile30187=)
|
|
|
|
NM_001267550.2(TTN):c.90565T>C (p.Leu30189=)
|
|
|
|
NM_001267550.2(TTN):c.90570T>C (p.Ser30190=)
|
rs2154151209
|
|
|
NM_001267550.2(TTN):c.90573T>A (p.Ile30191=)
|
|
|
|
NM_001267550.2(TTN):c.90576G>A (p.Lys30192=)
|
|
|
|
NM_001267550.2(TTN):c.90587del (p.Lys30196fs)
|
rs397517749
|
|
|
NM_001267550.2(TTN):c.90587dup (p.Glu30197fs)
|
|
|
|
NM_001267550.2(TTN):c.90594T>C (p.His30198=)
|
rs765307374
|
|
|
NM_001267550.2(TTN):c.90594dup (p.Gly30199fs)
|
rs1553539686
|
|
|
NM_001267550.2(TTN):c.90605dup (p.Tyr30202Ter)
|
rs2154151177
|
|
|
NM_001267550.2(TTN):c.90606C>T (p.Tyr30202=)
|
|
|
|
NM_001267550.2(TTN):c.90614T>C (p.Ile30205Thr)
|
rs1283032526
|
|
|
NM_001267550.2(TTN):c.90621T>C (p.Asp30207=)
|
|
|
|
NM_001267550.2(TTN):c.90623dup (p.Asn30208fs)
|
rs1553539620
|
|
|
NM_001267550.2(TTN):c.90628del (p.Val30210fs)
|
rs2154151163
|
|
|
NM_001267550.2(TTN):c.9063C>T (p.Leu3021=)
|
|
|
|
NM_001267550.2(TTN):c.90653_90654del (p.Thr30218fs)
|
rs794729363
|
|
|
NM_001267550.2(TTN):c.90654A>G (p.Thr30218=)
|
|
|
|
NM_001267550.2(TTN):c.90656T>A (p.Val30219Asp)
|
rs1060500535
|
|
|
NM_001267550.2(TTN):c.90657del (p.Ile30220fs)
|
|
|
|
NM_001267550.2(TTN):c.90696del (p.Arg30233fs)
|
rs1699711208
|
|
|
NM_001267550.2(TTN):c.90699del (p.Phe30234fs)
|
rs2154151080
|
|
|
NM_001267550.2(TTN):c.90702del (p.Phe30234fs)
|
|
|
|
NM_001267550.2(TTN):c.90737G>A (p.Trp30246Ter)
|
rs2154151058
|
|
|
NM_001267550.2(TTN):c.90739del (p.Asp30247fs)
|
|
|
|
NM_001267550.2(TTN):c.90741T>C (p.Asp30247=)
|
rs1351789713
|
|
|
NM_001267550.2(TTN):c.90744A>G (p.Val30248=)
|
|
|
|
NM_001267550.2(TTN):c.90753T>C (p.Asp30251=)
|
rs2154151040
|
|
|
NM_001267550.2(TTN):c.90756T>C (p.Asn30252=)
|
|
|
|
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del)
|
rs748912340
|
|
|
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter)
|
rs1060500495
|
|
|
NM_001267550.2(TTN):c.90762A>T (p.Gly30254=)
|
rs1051740243
|
|
|
NM_001267550.2(TTN):c.90765A>G (p.Gly30255=)
|
|
|
|
NM_001267550.2(TTN):c.90771T>C (p.Ile30257=)
|
|
|
|
NM_001267550.2(TTN):c.90777T>C (p.Cys30259=)
|
|
|
|
NM_001267550.2(TTN):c.90789G>A (p.Glu30263=)
|
rs769726647
|
|
|
NM_001267550.2(TTN):c.90814T>A (p.Trp30272Arg)
|
rs777716014
|
|
|
NM_001267550.2(TTN):c.90819G>T (p.Lys30273Asn)
|
rs1307577297
|
|
|
NM_001267550.2(TTN):c.90825G>A (p.Val30275=)
|
rs752704041
|
|
|
NM_001267550.2(TTN):c.90844del (p.Thr30282fs)
|
rs2154150991
|
|
|
NM_001267550.2(TTN):c.90846G>A (p.Thr30282=)
|
|
|
|
NM_001267550.2(TTN):c.90861T>A (p.Pro30287=)
|
rs2154150983
|
|
|
NM_001267550.2(TTN):c.90870C>T (p.Val30290=)
|
rs794729527
|
|
|
NM_001267550.2(TTN):c.90879T>C (p.Ala30293=)
|
rs1400216463
|
|
|
NM_001267550.2(TTN):c.90883dup (p.Tyr30295fs)
|
rs1699641688
|
|
|
NM_001267550.2(TTN):c.90897G>C (p.Val30299=)
|
|
|
|
NM_001267550.2(TTN):c.90910A>T (p.Arg30304Ter)
|
rs773538148
|
|
|
NM_001267550.2(TTN):c.90914dup (p.Tyr30305Ter)
|
|
|
|
NM_001267550.2(TTN):c.90915C>G (p.Tyr30305Ter)
|
|
|
|
NM_001267550.2(TTN):c.90933T>C (p.Leu30311=)
|
|
|
|
NM_001267550.2(TTN):c.90936C>T (p.Val30312=)
|
|
|
|
NM_001267550.2(TTN):c.90941G>C (p.Ser30314Thr)
|
rs763875418
|
|
|
NM_001267550.2(TTN):c.90944T>C (p.Ile30315Thr)
|
rs755698637
|
|
|
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys)
|
rs11887722
|
|
|
NM_001267550.2(TTN):c.90968G>C (p.Arg30323Thr)
|
rs11887722
|
|
|
NM_001267550.2(TTN):c.9096T>C (p.Phe3032=)
|
|
|
|
NM_001267550.2(TTN):c.90978T>A (p.Gly30326=)
|
|
|
|
NM_001267550.2(TTN):c.90984A>G (p.Pro30328=)
|
|
|
|
NM_001267550.2(TTN):c.90994_90997dup (p.Ile30333fs)
|
rs1559200975
|
|
|
NM_001267550.2(TTN):c.909G>C (p.Pro303=)
|
|
|
|
NM_001267550.2(TTN):c.91+12C>T
|
|
|
|
NM_001267550.2(TTN):c.91+15T>A
|
|
|
|
NM_001267550.2(TTN):c.91+1G>A
|
rs2154360987
|
|
|
NM_001267550.2(TTN):c.91+5G>T
|
|
|
|
NM_001267550.2(TTN):c.91+9A>G
|
rs2154360980
|
|
|
NM_001267550.2(TTN):c.91008G>A (p.Val30336=)
|
|
|
|
NM_001267550.2(TTN):c.91008G>T (p.Val30336=)
|
|
|
|
NM_001267550.2(TTN):c.91011T>C (p.Thr30337=)
|
|
|
|
NM_001267550.2(TTN):c.91025C>A (p.Ser30342Ter)
|
rs2154150847
|
|
|
NM_001267550.2(TTN):c.91041T>C (p.Ala30347=)
|
|
|
|
NM_001267550.2(TTN):c.91071T>A (p.Thr30357=)
|
|
|
|
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=)
|
rs11897366
|
|
|
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs)
|
rs769422187
|
|
|
NM_001267550.2(TTN):c.91101_91102dup (p.Ser30368fs)
|
|
|
|
NM_001267550.2(TTN):c.91131A>G (p.Ser30377=)
|
rs761062254
|
|
|
NM_001267550.2(TTN):c.91134A>G (p.Pro30378=)
|
|
|
|
NM_001267550.2(TTN):c.91140T>C (p.Ser30380=)
|
|
|
|
NM_001267550.2(TTN):c.91143A>G (p.Gly30381=)
|
rs2154150752
|
|
|
NM_001267550.2(TTN):c.91152T>C (p.Tyr30384=)
|
rs796635140
|
|
|
NM_001267550.2(TTN):c.91182T>C (p.Asp30394=)
|
rs1699513121
|
|
|
NM_001267550.2(TTN):c.91192del (p.Arg30398fs)
|
|
|
|
NM_001267550.2(TTN):c.91194T>C (p.Arg30398=)
|
|
|
|
NM_001267550.2(TTN):c.91212T>G (p.Ser30404=)
|
rs2154150710
|
|
|
NM_001267550.2(TTN):c.91245A>G (p.Lys30415=)
|
|
|
|
NM_001267550.2(TTN):c.91260T>C (p.Val30420=)
|
rs1208748409
|
|
|
NM_001267550.2(TTN):c.91270+13T>G
|
|
|
|
NM_001267550.2(TTN):c.91270+15T>C
|
|
|
|
NM_001267550.2(TTN):c.91270+1G>A
|
rs2154150675
|
|
|
NM_001267550.2(TTN):c.91270+4A>G
|
rs1699482474
|
|
|
NM_001267550.2(TTN):c.91270+7G>T
|
|
|
|
NM_001267550.2(TTN):c.91270+8A>T
|
|
|
|
NM_001267550.2(TTN):c.91270+9T>C
|
|
|
|
NM_001267550.2(TTN):c.91271-12A>C
|
|
|
|
NM_001267550.2(TTN):c.91271-19C>G
|
|
|
|
NM_001267550.2(TTN):c.91271-20C>A
|
rs1461887959
|
|
|
NM_001267550.2(TTN):c.91271-6T>A
|
|
|
|
NM_001267550.2(TTN):c.91271-7T>G
|
rs2154150323
|
|
|
NM_001267550.2(TTN):c.91281C>T (p.Gly30427=)
|
|
|
|
NM_001267550.2(TTN):c.91288G>A (p.Asp30430Asn)
|
rs1060500406
|
|
|
NM_001267550.2(TTN):c.91305C>A (p.Thr30435=)
|
rs368000890
|
|
|
NM_001267550.2(TTN):c.91312del (p.Thr30438fs)
|
|
|
|
NM_001267550.2(TTN):c.91320A>G (p.Thr30440=)
|
|
|
|
NM_001267550.2(TTN):c.91335A>C (p.Pro30445=)
|
|
|
|
NM_001267550.2(TTN):c.91343_91344insA (p.Arg30448_Asp30449insTer)
|
rs2154150232
|
|
|
NM_001267550.2(TTN):c.91344T>A (p.Arg30448=)
|
rs1060503927
|
|
|
NM_001267550.2(TTN):c.91350A>G (p.Gly30450=)
|
rs1575504766
|
|
|
NM_001267550.2(TTN):c.91383A>G (p.Lys30461=)
|
|
|
|
NM_001267550.2(TTN):c.914+10C>T
|
|
|
|
NM_001267550.2(TTN):c.914+12A>G
|
|
|
|
NM_001267550.2(TTN):c.914+17G>A
|
rs773843381
|
|
|
NM_001267550.2(TTN):c.914+17G>C
|
|
|
|
NM_001267550.2(TTN):c.914+3A>G
|
|
|
|
NM_001267550.2(TTN):c.914+4A>C
|
|
|
|
NM_001267550.2(TTN):c.914+7C>G
|
|
|
|
NM_001267550.2(TTN):c.914+8_914+9delinsCT
|
rs1554041153
|
|
|
NM_001267550.2(TTN):c.91443C>T (p.Tyr30481=)
|
|
|
|
NM_001267550.2(TTN):c.91445_91446del (p.Thr30482fs)
|
rs1699247877
|
|
|
NM_001267550.2(TTN):c.91464T>C (p.Pro30488=)
|
|
|
|
NM_001267550.2(TTN):c.91467G>A (p.Gly30489=)
|
rs542171381
|
|
|
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter)
|
rs727504646
|
|
|
NM_001267550.2(TTN):c.9147C>T (p.Ala3049=)
|
rs1574540462
|
|
|
NM_001267550.2(TTN):c.915-13T>G
|
rs2154356306
|
|
|
NM_001267550.2(TTN):c.915-19T>C
|
|
|
|
NM_001267550.2(TTN):c.915-2A>G
|
|
|
|
NM_001267550.2(TTN):c.915-4T>C
|
rs1346839233
|
|
|
NM_001267550.2(TTN):c.915-7T>C
|
|
|
|
NM_001267550.2(TTN):c.915-7dup
|
rs730880351
|
|
|
NM_001267550.2(TTN):c.915-8G>A
|
rs1195041579
|
|
|
NM_001267550.2(TTN):c.915-8G>T
|
|
|
|
NM_001267550.2(TTN):c.9150A>C (p.Thr3050=)
|
rs72647886
|
|
|
NM_001267550.2(TTN):c.91536T>G (p.Ser30512=)
|
|
|
|
NM_001267550.2(TTN):c.91542TAT[1] (p.Ile30515del)
|
rs748002494
|
|
|
NM_001267550.2(TTN):c.91551_91552del (p.Arg30518_Asp30519insTer)
|
|
|
|
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=)
|
rs202185465
|
|
|
NM_001267550.2(TTN):c.91564+14A>G
|
rs2154149987
|
|
|
NM_001267550.2(TTN):c.91564+18A>T
|
|
|
|
NM_001267550.2(TTN):c.91564+18_91564+21del
|
|
|
|
NM_001267550.2(TTN):c.91564+19T>C
|
rs1699201082
|
|
|
NM_001267550.2(TTN):c.91564+2T>C
|
rs1699208458
|
|
|
NM_001267550.2(TTN):c.91564+5G>A
|
rs758591518
|
|
|
NM_001267550.2(TTN):c.91565-9C>A
|
|
|
|
NM_001267550.2(TTN):c.91578A>G (p.Val30526=)
|
rs2154149054
|
|
|
NM_001267550.2(TTN):c.91587C>A (p.Gly30529=)
|
|
|
|
NM_001267550.2(TTN):c.91587C>T (p.Gly30529=)
|
|
|
|
NM_001267550.2(TTN):c.91589del (p.Pro30530fs)
|
|
|
|
NM_001267550.2(TTN):c.91596C>T (p.Tyr30532=)
|
|
|
|
NM_001267550.2(TTN):c.91602T>C (p.Asp30534=)
|
rs776217449
|
|
|
NM_001267550.2(TTN):c.9163+12T>C
|
|
|
|
NM_001267550.2(TTN):c.9163+17del
|
|
|
|
NM_001267550.2(TTN):c.9163+19T>G
|
|
|
|
NM_001267550.2(TTN):c.9163+1G>C
|
rs1060500549
|
|
|
NM_001267550.2(TTN):c.9163+9T>C
|
rs2090958703
|
|
|
NM_001267550.2(TTN):c.91632T>C (p.Leu30544=)
|
rs909346656
|
|
|
NM_001267550.2(TTN):c.9164-13T>C
|
|
|
|
NM_001267550.2(TTN):c.9164-14A>G
|
|
|
|
NM_001267550.2(TTN):c.9164-1G>A
|
rs2090846146
|
|
|
NM_001267550.2(TTN):c.9164-9A>T
|
|
|
|
NM_001267550.2(TTN):c.91650A>G (p.Val30550=)
|
rs1447696542
|
|
|
NM_001267550.2(TTN):c.91655del (p.Gly30552fs)
|
rs1698781465
|
|
|
NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter)
|
rs1553536305
|
|
|
NM_001267550.2(TTN):c.91678_91685dup (p.Lys30562fs)
|
rs2154148938
|
|
|
NM_001267550.2(TTN):c.91695G>A (p.Val30565=)
|
rs1553536237
|
|
|
NM_001267550.2(TTN):c.91701C>T (p.Ile30567=)
|
|
|
|
NM_001267550.2(TTN):c.91707G>C (p.Lys30569Asn)
|
rs1060500543
|
|
|
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)
|
rs779129892
|
|
|
NM_001267550.2(TTN):c.91753T>G (p.Phe30585Val)
|
rs1060500507
|
|
|
NM_001267550.2(TTN):c.91760_91762del (p.Arg30587_Asp30588delinsAsn)
|
rs1060500517
|
|
|
NM_001267550.2(TTN):c.91764T>C (p.Asp30588=)
|
|
|
|
NM_001267550.2(TTN):c.91774G>A (p.Asp30592Asn)
|
rs767435344
|
|
|
NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600fs)
|
rs886042502
|
|
|
NM_001267550.2(TTN):c.91803C>A (p.Ala30601=)
|
|
|
|
NM_001267550.2(TTN):c.91803C>T (p.Ala30601=)
|
rs191961524
|
|
|
NM_001267550.2(TTN):c.91812A>G (p.Ala30604=)
|
|
|
|
NM_001267550.2(TTN):c.91852+12A>G
|
|
|
|
NM_001267550.2(TTN):c.91852+19_91852+21del
|
|
|
|
NM_001267550.2(TTN):c.91852+3A>G
|
|
|
|
NM_001267550.2(TTN):c.91852+9A>G
|
rs1553535980
|
|
|
NM_001267550.2(TTN):c.91852+9A>T
|
rs1553535980
|
|
|
NM_001267550.2(TTN):c.91853-9T>C
|
rs377664739
|
|
|
NM_001267550.2(TTN):c.91878A>G (p.Pro30626=)
|
rs879211202
|
|
|
NM_001267550.2(TTN):c.9189C>T (p.His3063=)
|
rs374803648
|
|
|
NM_001267550.2(TTN):c.91905G>A (p.Glu30635=)
|
|
|
|
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)
|
rs1698600051
|
|
|
NM_001267550.2(TTN):c.9192del (p.Lys3065fs)
|
|
|
|
NM_001267550.2(TTN):c.91965C>A (p.Tyr30655Ter)
|
rs1060500402
|
|
|
NM_001267550.2(TTN):c.91977del (p.Lys30659fs)
|
|
|
|
NM_001267550.2(TTN):c.91993del (p.Ala30666fs)
|
|
|
|
NM_001267550.2(TTN):c.91999T>C (p.Trp30667Arg)
|
rs72648246
|
|
|
NM_001267550.2(TTN):c.92-14T>C
|
|
|
|
NM_001267550.2(TTN):c.92-15G>T
|
|
|
|
NM_001267550.2(TTN):c.92-1G>A
|
|
|
|
NM_001267550.2(TTN):c.92-6C>T
|
|
|
|
NM_001267550.2(TTN):c.92017A>T (p.Lys30673Ter)
|
rs2154148429
|
|
|
NM_001267550.2(TTN):c.92034T>C (p.Ser30678=)
|
|
|
|
NM_001267550.2(TTN):c.92049A>G (p.Lys30683=)
|
|
|
|
NM_001267550.2(TTN):c.92049del (p.Lys30683fs)
|
|
|
|
NM_001267550.2(TTN):c.9204G>A (p.Lys3068=)
|
|
|
|
NM_001267550.2(TTN):c.92052A>C (p.Leu30684=)
|
rs764401165
|
|
|
NM_001267550.2(TTN):c.92063del (p.Asn30688fs)
|
|
|
|
NM_001267550.2(TTN):c.92079dup (p.Val30694fs)
|
rs2154148371
|
|
|
NM_001267550.2(TTN):c.92124T>C (p.Ser30708=)
|
|
|
|
NM_001267550.2(TTN):c.9213G>A (p.Glu3071=)
|
rs779657872
|
|
|
NM_001267550.2(TTN):c.92146C>T (p.Gln30716Ter)
|
|
|
|
NM_001267550.2(TTN):c.92152+19T>G
|
|
|
|
NM_001267550.2(TTN):c.92152+1G>C
|
|
|
|
NM_001267550.2(TTN):c.92152+9G>A
|
|
|
|
NM_001267550.2(TTN):c.92153-15G>C
|
|
|
|
NM_001267550.2(TTN):c.92153-15G>T
|
|
|
|
NM_001267550.2(TTN):c.92153-15_92153-12del
|
|
|
|
NM_001267550.2(TTN):c.92154T>G (p.Thr30718=)
|
|
|
|
NM_001267550.2(TTN):c.92169del (p.Gly30724fs)
|
|
|
|
NM_001267550.2(TTN):c.92190C>T (p.Asn30730=)
|
|
|
|
NM_001267550.2(TTN):c.921G>T (p.Val307=)
|
|
|
|
NM_001267550.2(TTN):c.9220C>T (p.Arg3074Ter)
|
rs780706937
|
|
|
NM_001267550.2(TTN):c.92211C>A (p.Thr30737=)
|
rs1575483741
|
|
|
NM_001267550.2(TTN):c.92212C>T (p.Leu30738=)
|
|
|
|
NM_001267550.2(TTN):c.92214G>C (p.Leu30738=)
|
rs1575483710
|
|
|
NM_001267550.2(TTN):c.92232A>G (p.Glu30744=)
|
rs1395558232
|
|
|
NM_001267550.2(TTN):c.92236_92237del (p.Asp30746fs)
|
rs2154148134
|
|
|
NM_001267550.2(TTN):c.92274A>G (p.Arg30758=)
|
|
|
|
NM_001267550.2(TTN):c.92284_92288del (p.Lys30762fs)
|
rs756367933
|
|
|
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs)
|
rs756367933
|
|
|
NM_001267550.2(TTN):c.92294del (p.Arg30765fs)
|
|
|
|
NM_001267550.2(TTN):c.92298G>A (p.Trp30766Ter)
|
|
|
|
NM_001267550.2(TTN):c.92310C>T (p.Ile30770=)
|
rs1575482735
|
|
|
NM_001267550.2(TTN):c.92334A>T (p.Thr30778=)
|
|
|
|
NM_001267550.2(TTN):c.9234A>G (p.Glu3078=)
|
|
|
|
NM_001267550.2(TTN):c.92350G>C (p.Gly30784Arg)
|
rs979303656
|
|
|
NM_001267550.2(TTN):c.92358A>G (p.Thr30786=)
|
|
|
|
NM_001267550.2(TTN):c.92373T>C (p.Tyr30791=)
|
|
|
|
NM_001267550.2(TTN):c.92382T>C (p.His30794=)
|
|
|
|
NM_001267550.2(TTN):c.9240A>G (p.Glu3080=)
|
|
|
|
NM_001267550.2(TTN):c.92415T>A (p.Pro30805=)
|
rs2154147973
|
|
|
NM_001267550.2(TTN):c.92417C>A (p.Ala30806Glu)
|
rs1060500407
|
|
|
NM_001267550.2(TTN):c.92424C>T (p.Gly30808=)
|
|
|
|
NM_001267550.2(TTN):c.92434C>A (p.Leu30812Ile)
|
rs776239659
|
|
|
NM_001267550.2(TTN):c.92436C>T (p.Leu30812=)
|
rs1698357709
|
|
|
NM_001267550.2(TTN):c.9243T>C (p.Val3081=)
|
|
|
|
NM_001267550.2(TTN):c.92466A>C (p.Pro30822=)
|
rs2154147939
|
|
|
NM_001267550.2(TTN):c.9246T>C (p.Ser3082=)
|
rs761865862
|
|
|
NM_001267550.2(TTN):c.92478A>C (p.Thr30826=)
|
rs1575481034
|
|
|
NM_001267550.2(TTN):c.92498del (p.Thr30833fs)
|
rs2154147918
|
|
|
NM_001267550.2(TTN):c.92499A>C (p.Thr30833=)
|
rs2154147913
|
|
|
NM_001267550.2(TTN):c.92502A>T (p.Ser30834=)
|
|
|
|
NM_001267550.2(TTN):c.92504del (p.Lys30835fs)
|
rs2154147910
|
|
|
NM_001267550.2(TTN):c.92519T>G (p.Leu30840Ter)
|
|
|
|
NM_001267550.2(TTN):c.92526G>A (p.Trp30842Ter)
|
rs2154147893
|
|
|
NM_001267550.2(TTN):c.92544T>C (p.Asp30848=)
|
rs2154147885
|
|
|
NM_001267550.2(TTN):c.92562T>A (p.Ile30854=)
|
rs797008735
|
|
|
NM_001267550.2(TTN):c.92562T>C (p.Ile30854=)
|
|
|
|
NM_001267550.2(TTN):c.92565G>C (p.Gly30855=)
|
|
|
|
NM_001267550.2(TTN):c.92569_92570del (p.Ile30857fs)
|
rs2154147864
|
|
|
NM_001267550.2(TTN):c.92589C>T (p.Ala30863=)
|
|
|
|
NM_001267550.2(TTN):c.92603G>A (p.Trp30868Ter)
|
rs2154147843
|
|
|
NM_001267550.2(TTN):c.92604G>A (p.Trp30868Ter)
|
|
|
|
NM_001267550.2(TTN):c.92625A>T (p.Ala30875=)
|
|
|
|
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs)
|
rs886039145
|
|
|
NM_001267550.2(TTN):c.92638A>C (p.Arg30880=)
|
rs768169370
|
|
|
NM_001267550.2(TTN):c.92643T>C (p.Tyr30881=)
|
|
|
|
NM_001267550.2(TTN):c.92646A>C (p.Thr30882=)
|
|
|
|
NM_001267550.2(TTN):c.92652_92659del (p.Asp30885fs)
|
rs1559175090
|
|
|
NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter)
|
rs1305222903
|
|
|
NM_001267550.2(TTN):c.92667T>C (p.Gly30889=)
|
rs1049769742
|
|
|
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)
|
rs869312065
|
|
|
NM_001267550.2(TTN):c.92688_92691dup (p.Ala30898Ter)
|
|
|
|
NM_001267550.2(TTN):c.92691T>A (p.Ser30897Arg)
|
rs1553532921
|
|
|
NM_001267550.2(TTN):c.9270G>A (p.Trp3090Ter)
|
rs2154341535
|
|
|
NM_001267550.2(TTN):c.92730G>A (p.Val30910=)
|
rs2154147757
|
|
|
NM_001267550.2(TTN):c.92748A>C (p.Ala30916=)
|
|
|
|
NM_001267550.2(TTN):c.92757G>C (p.Arg30919=)
|
rs2154147738
|
|
|
NM_001267550.2(TTN):c.92778C>T (p.Asp30926=)
|
|
|
|
NM_001267550.2(TTN):c.92784T>C (p.Asp30928=)
|
rs767238891
|
|
|
NM_001267550.2(TTN):c.92795_92798del (p.Lys30932fs)
|
|
|
|
NM_001267550.2(TTN):c.92797C>T (p.Gln30933Ter)
|
rs1553532356
|
|
|
NM_001267550.2(TTN):c.92805T>C (p.His30935=)
|
|
|
|
NM_001267550.2(TTN):c.92814A>G (p.Arg30938=)
|
rs752977354
|
|
|
NM_001267550.2(TTN):c.92820G>A (p.Gly30940=)
|
|
|
|
NM_001267550.2(TTN):c.9282C>T (p.Asp3094=)
|
rs2154341526
|
|
|
NM_001267550.2(TTN):c.92835C>T (p.Leu30945=)
|
rs2154147686
|
|
|
NM_001267550.2(TTN):c.92884_92887del (p.Pro30962fs)
|
rs1698201730
|
|
|
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro)
|
rs373366126
|
|
|
NM_001267550.2(TTN):c.92913T>C (p.Asp30971=)
|
|
|
|
NM_001267550.2(TTN):c.9291_9292delinsTT (p.Gln3098Ter)
|
rs1574528825
|
|
|
NM_001267550.2(TTN):c.92931C>T (p.Ser30977=)
|
|
|
|
NM_001267550.2(TTN):c.92940C>A (p.Thr30980=)
|
|
|
|
NM_001267550.2(TTN):c.92940C>T (p.Thr30980=)
|
rs747384204
|
|
|
NM_001267550.2(TTN):c.92944A>G (p.Thr30982Ala)
|
rs1060500555
|
|
|
NM_001267550.2(TTN):c.92946T>C (p.Thr30982=)
|
|
|
|
NM_001267550.2(TTN):c.92962A>T (p.Arg30988Ter)
|
rs1698169393
|
|
|
NM_001267550.2(TTN):c.92979A>C (p.Lys30993Asn)
|
rs754893239
|
|
|
NM_001267550.2(TTN):c.93006T>C (p.Ser31002=)
|
rs1575475627
|
|
|
NM_001267550.2(TTN):c.93015G>A (p.Lys31005=)
|
|
|
|
NM_001267550.2(TTN):c.93030C>G (p.Thr31010=)
|
rs764535070
|
|
|
NM_001267550.2(TTN):c.93033G>A (p.Val31011=)
|
|
|
|
NM_001267550.2(TTN):c.93033G>C (p.Val31011=)
|
|
|
|
NM_001267550.2(TTN):c.93033G>T (p.Val31011=)
|
|
|
|
NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter)
|
rs2154147529
|
|
|
NM_001267550.2(TTN):c.93039G>A (p.Val31013=)
|
rs1575475300
|
|
|
NM_001267550.2(TTN):c.93040C>G (p.Leu31014Val)
|
rs1060500404
|
|
|
NM_001267550.2(TTN):c.93047C>T (p.Thr31016Ile)
|
rs1553531270
|
|
|
NM_001267550.2(TTN):c.9305+14T>C
|
|
|
|
NM_001267550.2(TTN):c.9305+18G>C
|
rs2090812228
|
|
|
NM_001267550.2(TTN):c.9305+19C>T
|
|
|
|
NM_001267550.2(TTN):c.9305+20T>C
|
|
|
|
NM_001267550.2(TTN):c.9305+4A>G
|
rs746628782
|
|
|
NM_001267550.2(TTN):c.93050del (p.Pro31017fs)
|
|
|
|
NM_001267550.2(TTN):c.93054C>T (p.Gly31018=)
|
rs2154147509
|
|
|
NM_001267550.2(TTN):c.93057A>C (p.Pro31019=)
|
|
|
|
NM_001267550.2(TTN):c.9306-14C>A
|
rs1574526731
|
|
|
NM_001267550.2(TTN):c.9306-5C>T
|
rs2154341458
|
|
|
NM_001267550.2(TTN):c.9306-9C>A
|
rs2090787313
|
|
|
NM_001267550.2(TTN):c.93063C>T (p.Gly31021=)
|
rs1575474931
|
|
|
NM_001267550.2(TTN):c.93072C>T (p.Thr31024=)
|
rs1698122140
|
|
|
NM_001267550.2(TTN):c.93081T>C (p.Asp31027=)
|
|
|
|
NM_001267550.2(TTN):c.93084G>A (p.Val31028=)
|
|
|
|
NM_001267550.2(TTN):c.93088del (p.Arg31030fs)
|
rs2154147488
|
|
|
NM_001267550.2(TTN):c.93091G>T (p.Gly31031Ter)
|
rs907669905
|
|
|
NM_001267550.2(TTN):c.93093A>G (p.Gly31031=)
|
|
|
|
NM_001267550.2(TTN):c.93099T>C (p.Ala31033=)
|
|
|
|
NM_001267550.2(TTN):c.9309A>T (p.Ile3103=)
|
|
|
|
NM_001267550.2(TTN):c.930A>G (p.Ala310=)
|
rs771544059
|
|
|
NM_001267550.2(TTN):c.93105G>T (p.Leu31035Phe)
|
rs1553531017
|
|
|
NM_001267550.2(TTN):c.93106dup (p.Met31036fs)
|
rs2154147449
|
|
|
NM_001267550.2(TTN):c.93114T>C (p.Asp31038=)
|
|
|
|
NM_001267550.2(TTN):c.93117C>A (p.Ala31039=)
|
|
|
|
NM_001267550.2(TTN):c.93119dup (p.Leu31041fs)
|
|
|
|
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=)
|
rs758336721
|
|
|
NM_001267550.2(TTN):c.9312G>A (p.Lys3104=)
|
rs1261853793
|
|
|
NM_001267550.2(TTN):c.93130G>T (p.Gly31044Cys)
|
rs750213547
|
|
|
NM_001267550.2(TTN):c.93145_93146del (p.His31049fs)
|
|
|
|
NM_001267550.2(TTN):c.93153T>G (p.Tyr31051Ter)
|
|
|
|
NM_001267550.2(TTN):c.93165A>G (p.Lys31055=)
|
|
|
|
NM_001267550.2(TTN):c.93166C>A (p.Arg31056=)
|
rs72648250
|
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
|
NM_001267550.2(TTN):c.93168A>C (p.Arg31056=)
|
|
|
|
NM_001267550.2(TTN):c.93168A>T (p.Arg31056=)
|
rs1202181464
|
|
|
NM_001267550.2(TTN):c.93178C>T (p.Arg31060Cys)
|
rs750303653
|
|
|
NM_001267550.2(TTN):c.93181del (p.Arg31061fs)
|
rs2154147379
|
|
|
NM_001267550.2(TTN):c.93231C>T (p.Val31077=)
|
rs757561934
|
|
|
NM_001267550.2(TTN):c.93237C>T (p.Asp31079=)
|
rs794727469
|
|
|
NM_001267550.2(TTN):c.93258C>T (p.Tyr31086=)
|
rs1698040646
|
|
|
NM_001267550.2(TTN):c.9325A>T (p.Lys3109Ter)
|
|
|
|
NM_001267550.2(TTN):c.93282T>C (p.Asn31094=)
|
rs1698030124
|
|
|
NM_001267550.2(TTN):c.93288T>A (p.Tyr31096Ter)
|
|
|
|
NM_001267550.2(TTN):c.93291T>C (p.Gly31097=)
|
rs1167328025
|
|
|
NM_001267550.2(TTN):c.93330C>T (p.Ala31110=)
|
rs1553529751
|
|
|
NM_001267550.2(TTN):c.93333A>G (p.Thr31111=)
|
rs752118339
|
|
|
NM_001267550.2(TTN):c.93337C>T (p.Gln31113Ter)
|
rs1454572839
|
|
|
NM_001267550.2(TTN):c.93348A>C (p.Pro31116=)
|
|
|
|
NM_001267550.2(TTN):c.93348A>G (p.Pro31116=)
|
rs750732179
|
|
|
NM_001267550.2(TTN):c.93354G>A (p.Arg31118=)
|
|
|
|
NM_001267550.2(TTN):c.93363T>C (p.Asp31121=)
|
|
|
|
NM_001267550.2(TTN):c.9336C>T (p.His3112=)
|
rs2154341434
|
|
|
NM_001267550.2(TTN):c.93375T>C (p.Thr31125=)
|
rs1060503936
|
|
|
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)
|
rs886044536
|
|
|
NM_001267550.2(TTN):c.93399T>A (p.Ala31133=)
|
rs1553529493
|
|
|
NM_001267550.2(TTN):c.93417C>T (p.His31139=)
|
|
|
|
NM_001267550.2(TTN):c.93432G>T (p.Arg31144=)
|
rs377261293
|
|
|
NM_001267550.2(TTN):c.9345G>C (p.Leu3115=)
|
rs768111768
|
|
|
NM_001267550.2(TTN):c.93465G>A (p.Lys31155=)
|
rs1351647298
|
|
|
NM_001267550.2(TTN):c.93516A>G (p.Thr31172=)
|
|
|
|
NM_001267550.2(TTN):c.93528T>G (p.Leu31176=)
|
rs1266553798
|
|
|
NM_001267550.2(TTN):c.93534G>A (p.Glu31178=)
|
rs761565425
|
|
|
NM_001267550.2(TTN):c.93537A>G (p.Lys31179=)
|
rs776904754
|
|
|
NM_001267550.2(TTN):c.93541G>T (p.Glu31181Ter)
|
rs1243301263
|
|
|
NM_001267550.2(TTN):c.93555T>C (p.Arg31185=)
|
|
|
|
NM_001267550.2(TTN):c.9357C>A (p.Thr3119=)
|
|
|
|
NM_001267550.2(TTN):c.93582T>C (p.Tyr31194=)
|
|
|
|
NM_001267550.2(TTN):c.93592del (p.Arg31198fs)
|
|
|
|
NM_001267550.2(TTN):c.93601T>C (p.Phe31201Leu)
|
rs1553528695
|
|
|
NM_001267550.2(TTN):c.93607T>C (p.Ser31203Pro)
|
rs1553528649
|
|
|
NM_001267550.2(TTN):c.93641del (p.Thr31214fs)
|
|
|
|
NM_001267550.2(TTN):c.93642T>C (p.Thr31214=)
|
|
|
|
NM_001267550.2(TTN):c.93646G>A (p.Asp31216Asn)
|
rs1321355074
|
|
|
NM_001267550.2(TTN):c.93663C>T (p.Thr31221=)
|
rs1489398531
|
|
|
NM_001267550.2(TTN):c.93665A>G (p.Asn31222Ser)
|
rs1559164640
|
|
|
NM_001267550.2(TTN):c.93666T>C (p.Asn31222=)
|
|
|
|
NM_001267550.2(TTN):c.93669G>A (p.Gln31223=)
|
|
|
|
NM_001267550.2(TTN):c.93678T>C (p.Thr31226=)
|
|
|
|
NM_001267550.2(TTN):c.93680G>A (p.Cys31227Tyr)
|
rs1260979974
|
|
|
NM_001267550.2(TTN):c.93687A>G (p.Ala31229=)
|
|
|
|
NM_001267550.2(TTN):c.93692G>A (p.Ser31231Asn)
|
rs1060500565
|
|
|
NM_001267550.2(TTN):c.93693C>T (p.Ser31231=)
|
|
|
|
NM_001267550.2(TTN):c.93702C>A (p.Thr31234=)
|
|
|
|
NM_001267550.2(TTN):c.93702C>T (p.Thr31234=)
|
rs374976660
|
|
|
NM_001267550.2(TTN):c.93711A>G (p.Val31237=)
|
|
|
|
NM_001267550.2(TTN):c.9372dup (p.Gly3125fs)
|
|
|
|
NM_001267550.2(TTN):c.93735C>T (p.Pro31245=)
|
rs1697864721
|
|
|
NM_001267550.2(TTN):c.93735del (p.Lys31246_Val31247insTer)
|
|
|
|
NM_001267550.2(TTN):c.93735dup (p.Lys31246fs)
|
|
|
|
NM_001267550.2(TTN):c.93741A>G (p.Val31247=)
|
|
|
|
NM_001267550.2(TTN):c.93754del (p.Glu31252fs)
|
|
|
|
NM_001267550.2(TTN):c.9375G>A (p.Gly3125=)
|
|
|
|
NM_001267550.2(TTN):c.93764_93765del (p.Arg31255fs)
|
|
|
|
NM_001267550.2(TTN):c.93766del (p.Glu31258fs)
|
|
|
|
NM_001267550.2(TTN):c.93772G>T (p.Glu31258Ter)
|
|
|
|
NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter)
|
rs1553528016
|
|
|
NM_001267550.2(TTN):c.93783A>G (p.Arg31261=)
|
|
|
|
NM_001267550.2(TTN):c.93784_93785insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGACAGATCGAG (p.Arg31261_Val31262insAlaProSerProValSerLeuSerLeuSerArgLeuProLeuProLeuProSerProSerProSerProValSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluThrAspArg)
|
rs2154146971
|
|
|
NM_001267550.2(TTN):c.93834C>T (p.Ser31278=)
|
|
|
|
NM_001267550.2(TTN):c.9384A>C (p.Thr3128=)
|
rs369520274
|
|
|
NM_001267550.2(TTN):c.9384A>G (p.Thr3128=)
|
rs369520274
|
|
|
NM_001267550.2(TTN):c.93853A>T (p.Arg31285Ter)
|
|
|
|
NM_001267550.2(TTN):c.93876T>C (p.Asn31292=)
|
|
|
|
NM_001267550.2(TTN):c.93882T>G (p.Ala31294=)
|
|
|
|
NM_001267550.2(TTN):c.93888T>C (p.Val31296=)
|
|
|
|
NM_001267550.2(TTN):c.93891A>G (p.Lys31297=)
|
|
|
|
NM_001267550.2(TTN):c.93897del (p.Phe31299fs)
|
rs397517758
|
|
|
NM_001267550.2(TTN):c.93912G>A (p.Val31304=)
|
rs1288876263
|
|
|
NM_001267550.2(TTN):c.93939C>T (p.Thr31313=)
|
rs771653811
|
|
|
NM_001267550.2(TTN):c.93956C>A (p.Ser31319Ter)
|
rs2154146843
|
|
|
NM_001267550.2(TTN):c.9396A>G (p.Gly3132=)
|
rs1358537431
|
|
|
NM_001267550.2(TTN):c.93975G>C (p.Ser31325=)
|
|
|
|
NM_001267550.2(TTN):c.93988T>C (p.Trp31330Arg)
|
rs1553527043
|
|
|
NM_001267550.2(TTN):c.939C>T (p.Ile313=)
|
rs2093703236
|
|
|
NM_001267550.2(TTN):c.94032C>A (p.Tyr31344Ter)
|
|
|
|
NM_001267550.2(TTN):c.94052C>T (p.Ser31351Leu)
|
rs794729536
|
|
|
NM_001267550.2(TTN):c.94065T>C (p.Ala31355=)
|
|
|
|
NM_001267550.2(TTN):c.94067G>A (p.Trp31356Ter)
|
|
|
|
NM_001267550.2(TTN):c.94086T>C (p.Ser31362=)
|
rs919009792
|
|
|
NM_001267550.2(TTN):c.94095C>T (p.Arg31365=)
|
|
|
|
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs)
|
rs769488730
|
|
|
NM_001267550.2(TTN):c.94128del (p.Lys31375_Tyr31376insTer)
|
rs2154146720
|
|
|
NM_001267550.2(TTN):c.94137T>C (p.Tyr31379=)
|
|
|
|
NM_001267550.2(TTN):c.94180C>T (p.Pro31394Ser)
|
rs1321500671
|
|
|
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs)
|
rs727503547
|
|
|
NM_001267550.2(TTN):c.94182_94183insAGCAGCT (p.Leu31395fs)
|
rs1219954334
|
|
|
NM_001267550.2(TTN):c.9420_9421del (p.Phe3141fs)
|
rs2154341414
|
|
|
NM_001267550.2(TTN):c.94220-1G>A
|
rs1553525592
|
|
|
NM_001267550.2(TTN):c.94220-2A>G
|
|
|
|
NM_001267550.2(TTN):c.94221C>A (p.Val31407=)
|
|
|
|
NM_001267550.2(TTN):c.94233T>C (p.Ala31411=)
|
|
|
|
NM_001267550.2(TTN):c.94239C>A (p.Thr31413=)
|
rs1042759526
|
|
|
NM_001267550.2(TTN):c.94240A>C (p.Arg31414=)
|
rs369418580
|
|
|
NM_001267550.2(TTN):c.94245T>C (p.Pro31415=)
|
rs2154146523
|
|
|
NM_001267550.2(TTN):c.94263del (p.Ala31422fs)
|
|
|
|
NM_001267550.2(TTN):c.94266dup (p.Asn31423fs)
|
|
|
|
NM_001267550.2(TTN):c.9426A>T (p.Val3142=)
|
|
|
|
NM_001267550.2(TTN):c.94281T>C (p.Ile31427=)
|
|
|
|
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)
|
rs190282707
|
|
|
NM_001267550.2(TTN):c.94282C>G (p.Arg31428Gly)
|
rs190282707
|
|
|
NM_001267550.2(TTN):c.94282C>T (p.Arg31428Cys)
|
rs190282707
|
|
|
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter)
|
rs1697595705
|
|
|
NM_001267550.2(TTN):c.94296C>T (p.Pro31432=)
|
rs1575459498
|
|
|
NM_001267550.2(TTN):c.94302C>T (p.His31434=)
|
rs771212876
|
|
|
NM_001267550.2(TTN):c.94323T>C (p.Ile31441=)
|
|
|
|
NM_001267550.2(TTN):c.94331G>A (p.Trp31444Ter)
|
rs1429264347
|
|
|
NM_001267550.2(TTN):c.94332G>A (p.Trp31444Ter)
|
rs1697578690
|
|
|
NM_001267550.2(TTN):c.94335T>G (p.Val31445=)
|
|
|
|
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs)
|
rs727503546
|
|
|
NM_001267550.2(TTN):c.94349G>A (p.Arg31450His)
|
rs751985617
|
|
|
NM_001267550.2(TTN):c.94362T>C (p.Leu31454=)
|
rs951474388
|
|
|
NM_001267550.2(TTN):c.94365G>A (p.Trp31455Ter)
|
|
|
|
NM_001267550.2(TTN):c.94392A>G (p.Leu31464=)
|
|
|
|
NM_001267550.2(TTN):c.94399A>C (p.Asn31467His)
|
rs1553524710
|
|
|
NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter)
|
rs1553524697
|
|
|
NM_001267550.2(TTN):c.94407del (p.Lys31469_Val31470insTer)
|
|
|
|
NM_001267550.2(TTN):c.94418T>A (p.Leu31473Ter)
|
|
|
|
NM_001267550.2(TTN):c.94422A>G (p.Val31474=)
|
rs372786373
|
|
|
NM_001267550.2(TTN):c.94431G>A (p.Leu31477=)
|
|
|
|
NM_001267550.2(TTN):c.94436A>G (p.Tyr31479Cys)
|
rs879013044
|
|
|
NM_001267550.2(TTN):c.94437T>G (p.Tyr31479Ter)
|
|
|
|
NM_001267550.2(TTN):c.94448del (p.Thr31483fs)
|
rs2154146389
|
|
|
NM_001267550.2(TTN):c.9444C>T (p.Arg3148=)
|
rs2154341403
|
|
|
NM_001267550.2(TTN):c.94464T>G (p.Ala31488=)
|
rs138888307
|
|
|
NM_001267550.2(TTN):c.9447C>A (p.Ile3149=)
|
rs771530976
|
|
|
NM_001267550.2(TTN):c.94485C>T (p.Ser31495=)
|
rs781211212
|
|
|
NM_001267550.2(TTN):c.9448C>G (p.Arg3150Gly)
|
rs146572907
|
|
|
NM_001267550.2(TTN):c.94494A>G (p.Ser31498=)
|
rs1559155162
|
|
|
NM_001267550.2(TTN):c.9450A>T (p.Arg3150=)
|
|
|
|
NM_001267550.2(TTN):c.94518A>G (p.Pro31506=)
|
rs2154146352
|
|
|
NM_001267550.2(TTN):c.94522+11C>T
|
|
|
|
NM_001267550.2(TTN):c.94522+5G>T
|
rs767084102
|
|
|
NM_001267550.2(TTN):c.94522+7A>G
|
|
|
|
NM_001267550.2(TTN):c.94523-18T>C
|
|
|
|
NM_001267550.2(TTN):c.94523A>G (p.Asp31508Gly)
|
rs772571812
|
|
|
NM_001267550.2(TTN):c.94530A>G (p.Pro31510=)
|
rs902954756
|
|
|
NM_001267550.2(TTN):c.94533C>A (p.Gly31511=)
|
rs755850773
|
|
|
NM_001267550.2(TTN):c.94548A>C (p.Thr31516=)
|
rs1242603048
|
|
|
NM_001267550.2(TTN):c.94548A>T (p.Thr31516=)
|
rs1242603048
|
|
|
NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter)
|
|
|
|
NM_001267550.2(TTN):c.94563A>T (p.Ser31521=)
|
|
|
|
NM_001267550.2(TTN):c.94581G>A (p.Trp31527Ter)
|
|
|
|
NM_001267550.2(TTN):c.94587C>T (p.Ala31529=)
|
|
|
|
NM_001267550.2(TTN):c.94593G>C (p.Ala31531=)
|
rs373301015
|
|
|
NM_001267550.2(TTN):c.94596T>C (p.Tyr31532=)
|
|
|
|
NM_001267550.2(TTN):c.9461del (p.Lys3154fs)
|
rs2154341391
|
|
|
NM_001267550.2(TTN):c.94620C>T (p.Gly31540=)
|
|
|
|
NM_001267550.2(TTN):c.9462G>A (p.Lys3154=)
|
|
|
|
NM_001267550.2(TTN):c.94689T>C (p.Ile31563=)
|
rs2154146127
|
|
|
NM_001267550.2(TTN):c.9471+11C>G
|
|
|
|
NM_001267550.2(TTN):c.9471+11C>T
|
rs755055119
|
|
|
NM_001267550.2(TTN):c.9471+12A>G
|
|
|
|
NM_001267550.2(TTN):c.9471+13T>C
|
rs1553989643
|
|
|
NM_001267550.2(TTN):c.9471+14A>G
|
rs1169026543
|
|
|
NM_001267550.2(TTN):c.9471+19A>C
|
|
|
|
NM_001267550.2(TTN):c.9471+8C>T
|
|
|
|
NM_001267550.2(TTN):c.9472-10C>A
|
rs1561184482
|
|
|
NM_001267550.2(TTN):c.9472-10C>T
|
|
|
|
NM_001267550.2(TTN):c.9472-19T>C
|
|
|
|
NM_001267550.2(TTN):c.9472-19del
|
rs201990196
|
|
|
NM_001267550.2(TTN):c.9472-19dup
|
rs201990196
|
|
|
NM_001267550.2(TTN):c.9472-1G>C
|
|
|
|
NM_001267550.2(TTN):c.9472-1G>T
|
|
|
|
NM_001267550.2(TTN):c.9472-20_9472-19dup
|
rs201990196
|
|
|
NM_001267550.2(TTN):c.9472-21_9472-19del
|
rs201990196
|
|
|
NM_001267550.2(TTN):c.9472-8A>T
|
rs2154340839
|
|
|
NM_001267550.2(TTN):c.94725T>C (p.Ser31575=)
|
rs1575452360
|
|
|
NM_001267550.2(TTN):c.94728A>G (p.Glu31576=)
|
rs1363584144
|
|
|
NM_001267550.2(TTN):c.94734C>T (p.Asp31578=)
|
rs2154146101
|
|
|
NM_001267550.2(TTN):c.94747_94748del (p.Arg31583fs)
|
rs1697311515
|
|
|
NM_001267550.2(TTN):c.9474C>G (p.Val3158=)
|
rs1553988120
|
|
|
NM_001267550.2(TTN):c.94752_94753dup (p.Leu31585fs)
|
|
|
|
NM_001267550.2(TTN):c.94761G>A (p.Lys31587=)
|
|
|
|
NM_001267550.2(TTN):c.9477T>C (p.Ile3159=)
|
rs2154340836
|
|
|
NM_001267550.2(TTN):c.94785A>G (p.Lys31595=)
|
|
|
|
NM_001267550.2(TTN):c.94788del (p.Ser31597fs)
|
|
|
|
NM_001267550.2(TTN):c.94797T>C (p.Ser31599=)
|
|
|
|
NM_001267550.2(TTN):c.94805_94806del (p.Pro31602fs)
|
|
|
|
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter)
|
rs1060500435
|
|
|
NM_001267550.2(TTN):c.94827C>G (p.Tyr31609Ter)
|
|
|
|
NM_001267550.2(TTN):c.94828+10A>G
|
|
|
|
NM_001267550.2(TTN):c.94828+11G>T
|
|
|
|
NM_001267550.2(TTN):c.94828+16C>T
|
|
|
|
NM_001267550.2(TTN):c.94828+17A>C
|
|
|
|
NM_001267550.2(TTN):c.94828+17A>G
|
rs1057523850
|
|
|
NM_001267550.2(TTN):c.94828+9T>C
|
rs1198377519
|
|
|
NM_001267550.2(TTN):c.94829-17G>C
|
rs2555819
|
|
|
NM_001267550.2(TTN):c.94829-17del
|
rs2154145943
|
|
|
NM_001267550.2(TTN):c.94829-7C>A
|
|
|
|
NM_001267550.2(TTN):c.94842C>T (p.Ala31614=)
|
|
|
|
NM_001267550.2(TTN):c.94869T>C (p.Asp31623=)
|
rs752379093
|
|
|
NM_001267550.2(TTN):c.94875T>C (p.Val31625=)
|
rs749477930
|
|
|
NM_001267550.2(TTN):c.94884A>G (p.Arg31628=)
|
|
|
|
NM_001267550.2(TTN):c.94903_94904del (p.Leu31635fs)
|
|
|
|
NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn)
|
rs776793953
|
|
|
NM_001267550.2(TTN):c.94923C>T (p.Gly31641=)
|
|
|
|
NM_001267550.2(TTN):c.94935C>A (p.Pro31645=)
|
|
|
|
NM_001267550.2(TTN):c.94939del (p.Ile31647fs)
|
rs1553521978
|
|
|
NM_001267550.2(TTN):c.94962G>A (p.Lys31654=)
|
rs2154145847
|
|
|
NM_001267550.2(TTN):c.94986C>T (p.Val31662=)
|
rs2154145833
|
|
|
NM_001267550.2(TTN):c.94991T>A (p.Leu31664Ter)
|
rs2154145831
|
|
|
NM_001267550.2(TTN):c.95001T>C (p.Thr31667=)
|
|
|
|
NM_001267550.2(TTN):c.95004C>G (p.Gly31668=)
|
|
|
|
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter)
|
rs1322596650
|
|
|
NM_001267550.2(TTN):c.95023_95024del (p.Ile31675fs)
|
rs1697105934
|
|
|
NM_001267550.2(TTN):c.95038A>C (p.Arg31680=)
|
|
|
|
NM_001267550.2(TTN):c.9504T>C (p.Phe3168=)
|
|
|
|
NM_001267550.2(TTN):c.95051_95070del (p.Gly31684fs)
|
rs2154145769
|
|
|
NM_001267550.2(TTN):c.95055del (p.Lys31685fs)
|
rs1174834630
|
|
|
NM_001267550.2(TTN):c.95062_95063del (p.Leu31688fs)
|
rs2154145784
|
|
|
NM_001267550.2(TTN):c.95063T>A (p.Leu31688Ter)
|
rs794729538
|
|
|
NM_001267550.2(TTN):c.95063T>G (p.Leu31688Ter)
|
rs794729538
|
|
|
NM_001267550.2(TTN):c.95075dup (p.Asn31692fs)
|
rs1697077852
|
|
|
NM_001267550.2(TTN):c.95088C>T (p.Thr31696=)
|
|
|
|
NM_001267550.2(TTN):c.95091G>A (p.Lys31697=)
|
rs1553521545
|
|
|
NM_001267550.2(TTN):c.95097G>C (p.Val31699=)
|
rs2154145735
|
|
|
NM_001267550.2(TTN):c.95100T>C (p.Ser31700=)
|
rs1223272611
|
|
|
NM_001267550.2(TTN):c.95109C>A (p.Val31703=)
|
rs1382410052
|
|
|
NM_001267550.2(TTN):c.95119+15T>C
|
|
|
|
NM_001267550.2(TTN):c.95119+1G>C
|
|
|
|
NM_001267550.2(TTN):c.95119+8T>A
|
rs778245729
|
|
|
NM_001267550.2(TTN):c.95119+8T>G
|
|
|
|
NM_001267550.2(TTN):c.95120-10C>T
|
|
|
|
NM_001267550.2(TTN):c.95120-13A>G
|
|
|
|
NM_001267550.2(TTN):c.95120-16A>G
|
rs772361510
|
|
|
NM_001267550.2(TTN):c.95120-2A>G
|
rs2154145628
|
|
|
NM_001267550.2(TTN):c.95120-7G>A
|
|
|
|
NM_001267550.2(TTN):c.95124C>T (p.Ser31708=)
|
|
|
|
NM_001267550.2(TTN):c.95133A>C (p.Pro31711=)
|
|
|
|
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)
|
rs869320740
|
|
|
NM_001267550.2(TTN):c.95142G>A (p.Lys31714=)
|
|
|
|
NM_001267550.2(TTN):c.95146A>G (p.Thr31716Ala)
|
rs1575444115
|
|
|
NM_001267550.2(TTN):c.95152A>C (p.Ser31718Arg)
|
rs781462223
|
|
|
NM_001267550.2(TTN):c.95158G>A (p.Val31720Ile)
|
rs1575443877
|
|
|
NM_001267550.2(TTN):c.95163_95176del (p.Gln31722fs)
|
|
|
|
NM_001267550.2(TTN):c.95164C>T (p.Gln31722Ter)
|
rs2154145603
|
|
|
NM_001267550.2(TTN):c.95173T>C (p.Cys31725Arg)
|
|
|
|
NM_001267550.2(TTN):c.95174G>A (p.Cys31725Tyr)
|
|
|
|
NM_001267550.2(TTN):c.95179T>G (p.Leu31727Val)
|
|
|
|
NM_001267550.2(TTN):c.95182G>A (p.Ala31728Thr)
|
|
|
|
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)
|
rs869320742
|
|
|
NM_001267550.2(TTN):c.95188A>T (p.Ser31730Cys)
|
rs1213250473
|
|
|
NM_001267550.2(TTN):c.95190C>A (p.Ser31730Arg)
|
rs1696951026
|
|
|
NM_001267550.2(TTN):c.95191C>T (p.Leu31731Phe)
|
rs1364685585
|
|
|
NM_001267550.2(TTN):c.95200del (p.Glu31734fs)
|
|
|
|
NM_001267550.2(TTN):c.95206G>A (p.Gly31736Arg)
|
rs771799061
|
|
|
NM_001267550.2(TTN):c.95207G>C (p.Gly31736Ala)
|
rs1401862112
|
|
|
NM_001267550.2(TTN):c.95222C>T (p.Thr31741Ile)
|
rs1553521179
|
|
|
NM_001267550.2(TTN):c.95224C>G (p.His31742Asp)
|
|
|
|
NM_001267550.2(TTN):c.95226C>T (p.His31742=)
|
|
|
|
NM_001267550.2(TTN):c.95240G>A (p.Arg31747Lys)
|
|
|
|
NM_001267550.2(TTN):c.95246del (p.Glu31749fs)
|
rs1696922090
|
|
|
NM_001267550.2(TTN):c.95247G>A (p.Glu31749=)
|
rs1553521108
|
|
|
NM_001267550.2(TTN):c.95256G>A (p.Arg31752=)
|
|
|
|
NM_001267550.2(TTN):c.95258T>C (p.Leu31753Pro)
|
|
|
|
NM_001267550.2(TTN):c.95264G>A (p.Trp31755Ter)
|
rs1696912764
|
|
|
NM_001267550.2(TTN):c.95265G>T (p.Trp31755Cys)
|
|
|
|
NM_001267550.2(TTN):c.95266del (p.Trp31755_Val31756insTer)
|
rs2154145523
|
|
|
NM_001267550.2(TTN):c.95272G>C (p.Val31758Leu)
|
rs1696907299
|
|
|
NM_001267550.2(TTN):c.95279G>A (p.Gly31760Asp)
|
rs1696902914
|
|
|
NM_001267550.2(TTN):c.95283A>G (p.Glu31761=)
|
rs1553521060
|
|
|
NM_001267550.2(TTN):c.95289_95298del (p.Thr31764fs)
|
rs1575442120
|
|
|
NM_001267550.2(TTN):c.95290A>G (p.Thr31764Ala)
|
rs1175551497
|
|
|
NM_001267550.2(TTN):c.95292C>A (p.Thr31764=)
|
|
|
|
NM_001267550.2(TTN):c.95298C>T (p.Ser31766=)
|
|
|
|
NM_001267550.2(TTN):c.95300A>G (p.Tyr31767Cys)
|
rs1431446089
|
|
|
NM_001267550.2(TTN):c.95302G>A (p.Val31768Ile)
|
|
|
|
NM_001267550.2(TTN):c.95302G>C (p.Val31768Leu)
|
rs1696890603
|
|
|
NM_001267550.2(TTN):c.95304C>A (p.Val31768=)
|
rs367755163
|
|
|
NM_001267550.2(TTN):c.95307T>G (p.Val31769=)
|
rs2154145503
|
|
|
NM_001267550.2(TTN):c.95313G>A (p.Arg31771=)
|
|
|
|
NM_001267550.2(TTN):c.95314C>T (p.Leu31772Phe)
|
rs2154145497
|
|
|
NM_001267550.2(TTN):c.95322G>A (p.Lys31774=)
|
|
|
|
NM_001267550.2(TTN):c.95326A>T (p.Asn31776Tyr)
|
rs2154145486
|
|
|
NM_001267550.2(TTN):c.95327A>G (p.Asn31776Ser)
|
rs1696881072
|
|
|
NM_001267550.2(TTN):c.95335A>C (p.Ile31779Leu)
|
rs886039071
|
|
|
NM_001267550.2(TTN):c.9533A>T (p.His3178Leu)
|
rs1334781459
|
|
|
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter)
|
rs780414947
|
|
|
NM_001267550.2(TTN):c.95342G>C (p.Arg31781Pro)
|
rs748984928
|
|
|
NM_001267550.2(TTN):c.95343A>C (p.Arg31781=)
|
|
|
|
NM_001267550.2(TTN):c.95346G>C (p.Val31782=)
|
|
|
|
NM_001267550.2(TTN):c.95350G>A (p.Ala31784Thr)
|
|
|
|
NM_001267550.2(TTN):c.95351C>A (p.Ala31784Glu)
|
|
|
|
NM_001267550.2(TTN):c.95351C>T (p.Ala31784Val)
|
rs1553520967
|
|
|
NM_001267550.2(TTN):c.95353G>A (p.Val31785Ile)
|
|
|
|
NM_001267550.2(TTN):c.95357A>G (p.Asn31786Ser)
|
rs1696865626
|
|
|
NM_001267550.2(TTN):c.95358C>T (p.Asn31786=)
|
rs869320743
|
|
|
NM_001267550.2(TTN):c.95361A>T (p.Lys31787Asn)
|
|
|
|
NM_001267550.2(TTN):c.95368C>G (p.Pro31790Ala)
|
|
|
|
NM_001267550.2(TTN):c.95370_95387del (p.Gly31791_Ser31796del)
|
|
|
|
NM_001267550.2(TTN):c.95370dup (p.Gly31791fs)
|
rs2154145442
|
|
|
NM_001267550.2(TTN):c.95371G>C (p.Gly31791Arg)
|
rs1696856005
|
|
|
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp)
|
rs869320744
|
|
|
NM_001267550.2(TTN):c.95372G>C (p.Gly31791Ala)
|
rs869320744
|
|
|
NM_001267550.2(TTN):c.95374G>A (p.Val31792Met)
|
|
|
|
NM_001267550.2(TTN):c.95375T>G (p.Val31792Gly)
|
|
|
|
NM_001267550.2(TTN):c.95376G>A (p.Val31792=)
|
rs1247897056
|
|
|
NM_001267550.2(TTN):c.95377C>A (p.Pro31793Thr)
|
rs1466581888
|
|
|
NM_001267550.2(TTN):c.95382T>C (p.Val31794=)
|
|
|
|
NM_001267550.2(TTN):c.95385A>G (p.Glu31795=)
|
|
|
|
NM_001267550.2(TTN):c.9538T>C (p.Tyr3180His)
|
rs1553987902
|
|
|
NM_001267550.2(TTN):c.95404A>G (p.Arg31802Gly)
|
|
|
|
NM_001267550.2(TTN):c.95415C>G (p.Phe31805Leu)
|
rs587780983
|
|
|
NM_001267550.2(TTN):c.95415_95416+2del
|
rs769407533
|
|
|
NM_001267550.2(TTN):c.95416+17T>C
|
|
|
|
NM_001267550.2(TTN):c.95416+18_95416+19insAACACTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC
|
|
|
|
NM_001267550.2(TTN):c.95416+5G>T
|
rs1696830213
|
|
|
NM_001267550.2(TTN):c.95416+9T>G
|
|
|
|
NM_001267550.2(TTN):c.95417-10T>C
|
|
|
|
NM_001267550.2(TTN):c.95417-10del
|
rs2154145289
|
|
|
NM_001267550.2(TTN):c.95417-18C>A
|
|
|
|
NM_001267550.2(TTN):c.95417-6A>G
|
rs1166561105
|
|
|
NM_001267550.2(TTN):c.95417-6A>T
|
|
|
|
NM_001267550.2(TTN):c.95417-7T>A
|
|
|
|
NM_001267550.2(TTN):c.95417-7dup
|
|
|
|
NM_001267550.2(TTN):c.95417-8A>G
|
rs2154145286
|
|
|
NM_001267550.2(TTN):c.95446G>T (p.Glu31816Ter)
|
|
|
|
NM_001267550.2(TTN):c.95466G>A (p.Glu31822=)
|
|
|
|
NM_001267550.2(TTN):c.95469T>C (p.His31823=)
|
rs2154145225
|
|
|
NM_001267550.2(TTN):c.95469dup (p.Ile31824fs)
|
rs1553520581
|
|
|
NM_001267550.2(TTN):c.9546T>C (p.Asp3182=)
|
|
|
|
NM_001267550.2(TTN):c.95475C>A (p.Ile31825=)
|
rs1164190108
|
|
|
NM_001267550.2(TTN):c.95478T>A (p.Ile31826=)
|
|
|
|
NM_001267550.2(TTN):c.95480A>T (p.Gln31827Leu)
|
rs1553520567
|
|
|
NM_001267550.2(TTN):c.95484G>C (p.Trp31828Cys)
|
rs1553520556
|
|
|
NM_001267550.2(TTN):c.9548del (p.Gly3183fs)
|
rs2090460301
|
|
|
NM_001267550.2(TTN):c.95490dup (p.Pro31831fs)
|
rs2154145209
|
|
|
NM_001267550.2(TTN):c.95514A>G (p.Glu31838=)
|
|
|
|
NM_001267550.2(TTN):c.9551T>C (p.Ile3184Thr)
|
rs1553987863
|
|
|
NM_001267550.2(TTN):c.9553G>T (p.Glu3185Ter)
|
|
|
|
NM_001267550.2(TTN):c.95540G>C (p.Arg31847Pro)
|
rs771179752
|
|
|
NM_001267550.2(TTN):c.95543AGA[2] (p.Lys31850del)
|
rs727504556
|
|
|
NM_001267550.2(TTN):c.95560T>C (p.Trp31854Arg)
|
|
|
|
NM_001267550.2(TTN):c.95574C>T (p.Asn31858=)
|
|
|
|
NM_001267550.2(TTN):c.95576_95577del (p.Lys31859fs)
|
|
|
|
NM_001267550.2(TTN):c.95580C>T (p.Asp31860=)
|
rs2154145125
|
|
|
NM_001267550.2(TTN):c.95592T>C (p.Tyr31864=)
|
rs1347262523
|
|
|
NM_001267550.2(TTN):c.95601G>A (p.Arg31867=)
|
rs921847266
|
|
|
NM_001267550.2(TTN):c.95613C>T (p.Thr31871=)
|
|
|
|
NM_001267550.2(TTN):c.95628T>C (p.Gly31876=)
|
rs756362917
|
|
|
NM_001267550.2(TTN):c.95649G>A (p.Val31883=)
|
rs1553520236
|
|
|
NM_001267550.2(TTN):c.95669del (p.Gly31890fs)
|
rs2154145062
|
|
|
NM_001267550.2(TTN):c.95670T>C (p.Gly31890=)
|
|
|
|
NM_001267550.2(TTN):c.95682C>T (p.Pro31894=)
|
|
|
|
NM_001267550.2(TTN):c.95698T>C (p.Phe31900Leu)
|
rs1553520146
|
|
|
NM_001267550.2(TTN):c.95712A>G (p.Arg31904=)
|
|
|
|
NM_001267550.2(TTN):c.9571C>A (p.Gln3191Lys)
|
rs33997263
|
|
|
NM_001267550.2(TTN):c.95722+10A>G
|
|
|
|
NM_001267550.2(TTN):c.95722+18T>C
|
rs2154145000
|
|
|
NM_001267550.2(TTN):c.95722+1G>C
|
|
|
|
NM_001267550.2(TTN):c.95722+20C>A
|
|
|
|
NM_001267550.2(TTN):c.95722+20C>T
|
|
|
|
NM_001267550.2(TTN):c.95722+3G>T
|
|
|
|
NM_001267550.2(TTN):c.95723-12T>C
|
|
|
|
NM_001267550.2(TTN):c.95723-16T>G
|
|
|
|
NM_001267550.2(TTN):c.95723-19C>T
|
|
|
|
NM_001267550.2(TTN):c.95723-2A>C
|
rs2154144335
|
|
|
NM_001267550.2(TTN):c.95730T>C (p.Pro31910=)
|
rs1476848656
|
|
|
NM_001267550.2(TTN):c.95733A>G (p.Gly31911=)
|
|
|
|
NM_001267550.2(TTN):c.95735del (p.Pro31912fs)
|
rs1553519454
|
|
|
NM_001267550.2(TTN):c.95745T>C (p.Ala31915=)
|
rs2154144312
|
|
|
NM_001267550.2(TTN):c.95748A>T (p.Pro31916=)
|
rs1018003300
|
|
|
NM_001267550.2(TTN):c.95766C>A (p.Thr31922=)
|
rs2154144289
|
|
|
NM_001267550.2(TTN):c.95770del (p.His31924fs)
|
rs794729364
|
|
|
NM_001267550.2(TTN):c.95772_95773del (p.His31924fs)
|
rs1060500544
|
|
|
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)
|
rs746115846
|
|
|
NM_001267550.2(TTN):c.95784G>A (p.Leu31928=)
|
rs1403864542
|
|
|
NM_001267550.2(TTN):c.95799C>A (p.Pro31933=)
|
|
|
|
NM_001267550.2(TTN):c.95802del (p.Met31934fs)
|
|
|
|
NM_001267550.2(TTN):c.95805C>A (p.Tyr31935Ter)
|
rs375076970
|
|
|
NM_001267550.2(TTN):c.95806del (p.Asp31936fs)
|
|
|
|
NM_001267550.2(TTN):c.95811T>C (p.Gly31937=)
|
rs2154144265
|
|
|
NM_001267550.2(TTN):c.95823T>C (p.Ile31941=)
|
|
|
|
NM_001267550.2(TTN):c.95829_95830insG (p.Tyr31944fs)
|
|
|
|
NM_001267550.2(TTN):c.95845C>T (p.Gln31949Ter)
|
rs2154144237
|
|
|
NM_001267550.2(TTN):c.95847A>G (p.Gln31949=)
|
|
|
|
NM_001267550.2(TTN):c.95848G>T (p.Glu31950Ter)
|
|
|
|
NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter)
|
rs2154144218
|
|
|
NM_001267550.2(TTN):c.95874A>G (p.Arg31958=)
|
|
|
|
NM_001267550.2(TTN):c.95880T>C (p.His31960=)
|
rs1696036684
|
|
|
NM_001267550.2(TTN):c.95883C>G (p.Thr31961=)
|
rs1553519247
|
|
|
NM_001267550.2(TTN):c.95892A>G (p.Thr31964=)
|
rs879183167
|
|
|
NM_001267550.2(TTN):c.95928A>G (p.Lys31976=)
|
|
|
|
NM_001267550.2(TTN):c.95931G>A (p.Met31977Ile)
|
rs1575423808
|
|
|
NM_001267550.2(TTN):c.95943T>C (p.Tyr31981=)
|
rs1306678008
|
|
|
NM_001267550.2(TTN):c.9594G>A (p.Val3198=)
|
|
|
|
NM_001267550.2(TTN):c.95968G>A (p.Val31990Met)
|
rs727503541
|
|
|
NM_001267550.2(TTN):c.95992G>T (p.Glu31998Ter)
|
rs775585263
|
|
|
NM_001267550.2(TTN):c.95992del (p.Glu31998fs)
|
rs2154144138
|
|
|
NM_001267550.2(TTN):c.96011A>G (p.Glu32004Gly)
|
rs1553519065
|
|
|
NM_001267550.2(TTN):c.96022A>C (p.Arg32008=)
|
rs756449788
|
|
|
NM_001267550.2(TTN):c.96026T>G (p.Ile32009Arg)
|
rs375368824
|
|
|
NM_001267550.2(TTN):c.96028+18T>C
|
|
|
|
NM_001267550.2(TTN):c.96029-12T>C
|
|
|
|
NM_001267550.2(TTN):c.96029-14C>A
|
|
|
|
NM_001267550.2(TTN):c.96036A>T (p.Pro32012=)
|
|
|
|
NM_001267550.2(TTN):c.96042T>G (p.Leu32014=)
|
rs2154144025
|
|
|
NM_001267550.2(TTN):c.96069T>G (p.Thr32023=)
|
|
|
|
NM_001267550.2(TTN):c.96069dup (p.Val32024fs)
|
rs878854432
|
|
|
NM_001267550.2(TTN):c.96075C>T (p.Thr32025=)
|
|
|
|
NM_001267550.2(TTN):c.96084T>C (p.Ala32028=)
|
rs1553518744
|
|
|
NM_001267550.2(TTN):c.96090C>T (p.Ala32030=)
|
rs1575420522
|
|
|
NM_001267550.2(TTN):c.96096G>A (p.Leu32032=)
|
rs1197841768
|
|
|
NM_001267550.2(TTN):c.96105_96106insACAGGAG (p.Val32036fs)
|
rs1695870572
|
|
|
NM_001267550.2(TTN):c.96110_96113del (p.Ser32037fs)
|
|
|
|
NM_001267550.2(TTN):c.96117T>C (p.Ser32039=)
|
|
|
|
NM_001267550.2(TTN):c.96141G>A (p.Thr32047=)
|
rs752553035
|
|
|
NM_001267550.2(TTN):c.96153G>A (p.Gln32051=)
|
|
|
|
NM_001267550.2(TTN):c.96158_96177dup (p.Ile32060fs)
|
|
|
|
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=)
|
rs572401798
|
|
|
NM_001267550.2(TTN):c.96189C>G (p.Thr32063=)
|
rs544886477
|
|
|
NM_001267550.2(TTN):c.9618T>C (p.Phe3206=)
|
rs878971586
|
|
|
NM_001267550.2(TTN):c.96228T>C (p.Asn32076=)
|
|
|
|
NM_001267550.2(TTN):c.96229C>A (p.Arg32077=)
|
rs751316145
|
|
|
NM_001267550.2(TTN):c.96233_96236delinsCCT (p.Tyr32078fs)
|
rs1553518529
|
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
|
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His)
|
rs200540781
|
|
|
NM_001267550.2(TTN):c.96252A>T (p.Thr32084=)
|
rs369626133
|
|
|
NM_001267550.2(TTN):c.96260_96279dup (p.Lys32094fs)
|
rs2154143867
|
|
|
NM_001267550.2(TTN):c.96270A>G (p.Gln32090=)
|
rs2154143870
|
|
|
NM_001267550.2(TTN):c.96297T>C (p.Leu32099=)
|
|
|
|
NM_001267550.2(TTN):c.96303dup (p.Val32102fs)
|
rs1695788718
|
|
|
NM_001267550.2(TTN):c.9630del (p.Arg3211fs)
|
|
|
|
NM_001267550.2(TTN):c.96310+20T>C
|
|
|
|
NM_001267550.2(TTN):c.96311-16_96311-15del
|
|
|
|
NM_001267550.2(TTN):c.96311-20T>A
|
|
|
|
NM_001267550.2(TTN):c.96311-20T>G
|
|
|
|
NM_001267550.2(TTN):c.96311-9G>A
|
rs2154143671
|
|
|
NM_001267550.2(TTN):c.96378G>C (p.Trp32126Cys)
|
rs794729542
|
|
|
NM_001267550.2(TTN):c.96392T>C (p.Ile32131Thr)
|
rs978818932
|
|
|
NM_001267550.2(TTN):c.96406C>T (p.Pro32136Ser)
|
rs1553518099
|
|
|
NM_001267550.2(TTN):c.96411C>G (p.Val32137=)
|
rs1329249610
|
|
|
NM_001267550.2(TTN):c.96414C>T (p.Asn32138=)
|
rs933403975
|
|
|
NM_001267550.2(TTN):c.96417T>C (p.Asn32139=)
|
|
|
|
NM_001267550.2(TTN):c.96420C>A (p.Tyr32140Ter)
|
rs1009407656
|
|
|
NM_001267550.2(TTN):c.96423C>T (p.Ile32141=)
|
rs1356358644
|
|
|
NM_001267550.2(TTN):c.96445A>G (p.Met32149Val)
|
rs972033083
|
|
|
NM_001267550.2(TTN):c.96453A>G (p.Ala32151=)
|
|
|
|
NM_001267550.2(TTN):c.96468T>G (p.Thr32156=)
|
rs2154143561
|
|
|
NM_001267550.2(TTN):c.96506T>C (p.Leu32169Pro)
|
rs2154143527
|
|
|
NM_001267550.2(TTN):c.96507T>C (p.Leu32169=)
|
|
|
|
NM_001267550.2(TTN):c.96519C>T (p.Thr32173=)
|
|
|
|
NM_001267550.2(TTN):c.96525C>G (p.Tyr32175Ter)
|
|
|
|
NM_001267550.2(TTN):c.96537G>A (p.Val32179=)
|
rs2154143503
|
|
|
NM_001267550.2(TTN):c.96540G>C (p.Leu32180=)
|
rs754837315
|
|
|
NM_001267550.2(TTN):c.96555T>C (p.Tyr32185=)
|
rs1575412584
|
|
|
NM_001267550.2(TTN):c.96570T>C (p.Pro32190=)
|
rs1223460802
|
|
|
NM_001267550.2(TTN):c.9657del (p.Phe3220fs)
|
|
|
|
NM_001267550.2(TTN):c.96588A>G (p.Ala32196=)
|
|
|
|
NM_001267550.2(TTN):c.9660T>C (p.Phe3220=)
|
|
|
|
NM_001267550.2(TTN):c.96610T>C (p.Leu32204=)
|
rs1419384451
|
|
|
NM_001267550.2(TTN):c.96618T>C (p.Pro32206=)
|
rs1553517635
|
|
|
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter)
|
rs2154143423
|
|
|
NM_001267550.2(TTN):c.96676C>A (p.Pro32226Thr)
|
rs1060500595
|
|
|
NM_001267550.2(TTN):c.96679del (p.Leu32227fs)
|
rs2154143419
|
|
|
NM_001267550.2(TTN):c.96681C>G (p.Leu32227=)
|
|
|
|
NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs)
|
rs2154143418
|
|
|
NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter)
|
rs781171206
|
|
|
NM_001267550.2(TTN):c.96708A>T (p.Gly32236=)
|
rs752066259
|
|
|
NM_001267550.2(TTN):c.96711T>C (p.Tyr32237=)
|
|
|
|
NM_001267550.2(TTN):c.96720G>A (p.Glu32240=)
|
|
|
|
NM_001267550.2(TTN):c.96723C>G (p.Ala32241=)
|
rs1223885458
|
|
|
NM_001267550.2(TTN):c.96731del (p.Ala32244fs)
|
rs2154143380
|
|
|
NM_001267550.2(TTN):c.96742A>T (p.Arg32248Ter)
|
|
|
|
NM_001267550.2(TTN):c.96743G>A (p.Arg32248Lys)
|
rs967418486
|
|
|
NM_001267550.2(TTN):c.96746G>A (p.Trp32249Ter)
|
rs2154143363
|
|
|
NM_001267550.2(TTN):c.96756T>C (p.Val32252=)
|
rs752935152
|
|
|
NM_001267550.2(TTN):c.9675C>T (p.Asn3225=)
|
|
|
|
NM_001267550.2(TTN):c.96774A>G (p.Thr32258=)
|
|
|
|
NM_001267550.2(TTN):c.96789T>A (p.Thr32263=)
|
|
|
|
NM_001267550.2(TTN):c.9678G>A (p.Arg3226=)
|
rs2154340773
|
|
|
NM_001267550.2(TTN):c.96798C>A (p.Ser32266=)
|
|
|
|
NM_001267550.2(TTN):c.96816A>G (p.Gln32272=)
|
rs2154143321
|
|
|
NM_001267550.2(TTN):c.96819C>T (p.Tyr32273=)
|
|
|
|
NM_001267550.2(TTN):c.96824_96831del (p.Leu32274_Phe32275insTer)
|
rs2154143307
|
|
|
NM_001267550.2(TTN):c.96837A>T (p.Ala32279=)
|
rs1232489828
|
|
|
NM_001267550.2(TTN):c.96838C>T (p.Gln32280Ter)
|
|
|
|
NM_001267550.2(TTN):c.96840A>G (p.Gln32280=)
|
rs776900012
|
|
|
NM_001267550.2(TTN):c.96849del (p.Gly32284fs)
|
rs2154143293
|
|
|
NM_001267550.2(TTN):c.96852T>C (p.Gly32284=)
|
|
|
|
NM_001267550.2(TTN):c.96858A>G (p.Ser32286=)
|
rs1035330963
|
|
|
NM_001267550.2(TTN):c.96868G>A (p.Glu32290Lys)
|
rs1060500512
|
|
|
NM_001267550.2(TTN):c.96870_96871del (p.Glu32290fs)
|
rs1695435412
|
|
|
NM_001267550.2(TTN):c.96879A>C (p.Thr32293=)
|
rs373707659
|
|
|
NM_001267550.2(TTN):c.96879A>G (p.Thr32293=)
|
rs373707659
|
|
|
NM_001267550.2(TTN):c.96882C>T (p.Ala32294=)
|
|
|
|
NM_001267550.2(TTN):c.96897C>T (p.Asp32299=)
|
|
|
|
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
|
|
|
|
NM_001267550.2(TTN):c.96904+10A>G
|
|
|
|
NM_001267550.2(TTN):c.96904+13T>C
|
|
|
|
NM_001267550.2(TTN):c.96904+17C>A
|
|
|
|
NM_001267550.2(TTN):c.96904+1G>A
|
rs1553517092
|
|
|
NM_001267550.2(TTN):c.96904+8C>A
|
rs528358945
|
|
|
NM_001267550.2(TTN):c.96904G>A (p.Val32302Met)
|
rs1339368168
|
|
|
NM_001267550.2(TTN):c.96905-1G>A
|
|
|
|
NM_001267550.2(TTN):c.96905-20G>A
|
|
|
|
NM_001267550.2(TTN):c.96909dup (p.Pro32304fs)
|
rs1553516759
|
|
|
NM_001267550.2(TTN):c.96937C>T (p.Gln32313Ter)
|
rs1695289576
|
|
|
NM_001267550.2(TTN):c.96944_96945dup (p.Ile32316fs)
|
|
|
|
NM_001267550.2(TTN):c.96957A>C (p.Pro32319=)
|
|
|
|
NM_001267550.2(TTN):c.96976C>T (p.Leu32326=)
|
rs752927644
|
|
|
NM_001267550.2(TTN):c.96996C>A (p.Gly32332=)
|
|
|
|
NM_001267550.2(TTN):c.96996C>T (p.Gly32332=)
|
|
|
|
NM_001267550.2(TTN):c.96997del (p.Arg32333fs)
|
rs1695259740
|
|
|
NM_001267550.2(TTN):c.96999T>A (p.Arg32333=)
|
|
|
|
NM_001267550.2(TTN):c.96999T>G (p.Arg32333=)
|
|
|
|
NM_001267550.2(TTN):c.969T>C (p.Ser323=)
|
rs895378286
|
|
|
NM_001267550.2(TTN):c.97006_97021del (p.Pro32336fs)
|
rs2154142958
|
|
|
NM_001267550.2(TTN):c.97011del (p.Ala32338fs)
|
|
|
|
NM_001267550.2(TTN):c.97025_97035del (p.Phe32341_Phe32342insTer)
|
|
|
|
NM_001267550.2(TTN):c.9703+14G>T
|
|
|
|
NM_001267550.2(TTN):c.9703+17T>G
|
|
|
|
NM_001267550.2(TTN):c.9703+18T>C
|
rs2090425523
|
|
|
NM_001267550.2(TTN):c.9703+5G>A
|
rs2090429977
|
|
|
NM_001267550.2(TTN):c.9704-11T>C
|
|
|
|
NM_001267550.2(TTN):c.9704-12A>G
|
|
|
|
NM_001267550.2(TTN):c.9704-20T>G
|
|
|
|
NM_001267550.2(TTN):c.9704-4C>T
|
rs2154339976
|
|
|
NM_001267550.2(TTN):c.9704-5C>G
|
rs769068555
|
|
|
NM_001267550.2(TTN):c.9704-6T>A
|
|
|
|
NM_001267550.2(TTN):c.9704-8A>C
|
|
|
|
NM_001267550.2(TTN):c.97053G>A (p.Glu32351=)
|
|
|
|
NM_001267550.2(TTN):c.97054C>G (p.Arg32352Gly)
|
rs753874904
|
|
|
NM_001267550.2(TTN):c.97074C>T (p.His32358=)
|
|
|
|
NM_001267550.2(TTN):c.97086T>A (p.Ala32362=)
|
rs1429840010
|
|
|
NM_001267550.2(TTN):c.9708T>C (p.Pro3236=)
|
rs1354735473
|
|
|
NM_001267550.2(TTN):c.97114dup (p.Arg32372fs)
|
rs1064793419
|
|
|
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs)
|
rs748382770
|
|
|
NM_001267550.2(TTN):c.97134del (p.Glu32380fs)
|
|
|
|
NM_001267550.2(TTN):c.97146G>A (p.Lys32382=)
|
rs781006271
|
|
|
NM_001267550.2(TTN):c.9714G>A (p.Pro3238=)
|
rs886042397
|
|
|
NM_001267550.2(TTN):c.97155C>A (p.Thr32385=)
|
rs766443861
|
|
|
NM_001267550.2(TTN):c.97173C>G (p.Thr32391=)
|
rs1695176905
|
|
|
NM_001267550.2(TTN):c.97179A>G (p.Lys32393=)
|
rs2154142813
|
|
|
NM_001267550.2(TTN):c.97179_97183del (p.Lys32393fs)
|
|
|
|
NM_001267550.2(TTN):c.97185C>T (p.Ile32395=)
|
rs2154142811
|
|
|
NM_001267550.2(TTN):c.9718dup (p.Gln3240fs)
|
|
|
|
NM_001267550.2(TTN):c.97192+15C>G
|
rs777269400
|
|
|
NM_001267550.2(TTN):c.97192+1G>C
|
|
|
|
NM_001267550.2(TTN):c.97192+5G>A
|
rs2154142801
|
|
|
NM_001267550.2(TTN):c.97193-14C>A
|
|
|
|
NM_001267550.2(TTN):c.97193-19dup
|
|
|
|
NM_001267550.2(TTN):c.97193-2A>C
|
|
|
|
NM_001267550.2(TTN):c.97193-6_97193-3del
|
rs777375916
|
|
|
NM_001267550.2(TTN):c.97204_97205delinsAG (p.Pro32402Arg)
|
rs864622675
|
|
|
NM_001267550.2(TTN):c.97230T>C (p.Asp32410=)
|
rs769351622
|
|
|
NM_001267550.2(TTN):c.97251T>C (p.Ile32417=)
|
rs1429064462
|
|
|
NM_001267550.2(TTN):c.97263G>A (p.Trp32421Ter)
|
rs2154142586
|
|
|
NM_001267550.2(TTN):c.9726G>A (p.Leu3242=)
|
rs755986577
|
|
|
NM_001267550.2(TTN):c.97283G>A (p.Gly32428Asp)
|
rs1060500592
|
|
|
NM_001267550.2(TTN):c.97294_97295del (p.Leu32432fs)
|
rs2154142563
|
|
|
NM_001267550.2(TTN):c.972A>G (p.Pro324=)
|
rs1060503973
|
|
|
NM_001267550.2(TTN):c.97312G>T (p.Glu32438Ter)
|
|
|
|
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter)
|
rs767837705
|
|
|
NM_001267550.2(TTN):c.97318C>T (p.Arg32440Cys)
|
rs759932470
|
|
|
NM_001267550.2(TTN):c.97326T>C (p.Ala32442=)
|
rs2154142545
|
|
|
NM_001267550.2(TTN):c.97358C>G (p.Ser32453Ter)
|
|
|
|
NM_001267550.2(TTN):c.97374G>A (p.Thr32458=)
|
|
|
|
NM_001267550.2(TTN):c.97383T>C (p.Phe32461=)
|
rs2154142503
|
|
|
NM_001267550.2(TTN):c.97395C>G (p.Thr32465=)
|
rs755328785
|
|
|
NM_001267550.2(TTN):c.97395del (p.Glu32466fs)
|
rs1553515473
|
|
|
NM_001267550.2(TTN):c.97405_97408dup (p.Tyr32470Ter)
|
|
|
|
NM_001267550.2(TTN):c.97446T>C (p.Ile32482=)
|
|
|
|
NM_001267550.2(TTN):c.97451_97452del (p.Ser32484fs)
|
rs878854433
|
|
|
NM_001267550.2(TTN):c.97467G>A (p.Glu32489=)
|
|
|
|
NM_001267550.2(TTN):c.97470_97492+248del
|
rs1559108136
|
|
|
NM_001267550.2(TTN):c.97475_97476del (p.Glu32492fs)
|
rs2154142418
|
|
|
NM_001267550.2(TTN):c.97492+12G>C
|
|
|
|
NM_001267550.2(TTN):c.97492+13G>C
|
rs754036734
|
|
|
NM_001267550.2(TTN):c.97492+1G>A
|
rs727505319
|
|
|
NM_001267550.2(TTN):c.97492+1G>C
|
rs727505319
|
|
|
NM_001267550.2(TTN):c.97492+1G>T
|
rs727505319
|
|
|
NM_001267550.2(TTN):c.97492+20C>T
|
|
|
|
NM_001267550.2(TTN):c.97492+3_97492+6dup
|
rs755299669
|
|
|
NM_001267550.2(TTN):c.97493-14_97493-13del
|
|
|
|
NM_001267550.2(TTN):c.97493-5T>C
|
rs886042619
|
|
|
NM_001267550.2(TTN):c.97506C>A (p.Pro32502=)
|
rs2154141736
|
|
|
NM_001267550.2(TTN):c.97506_97507insTT (p.Pro32503fs)
|
rs1694530382
|
|
|
NM_001267550.2(TTN):c.97509A>G (p.Pro32503=)
|
rs2154141728
|
|
|
NM_001267550.2(TTN):c.97520del (p.Gln32507fs)
|
rs1694523513
|
|
|
NM_001267550.2(TTN):c.97523_97527del (p.Ile32508fs)
|
rs794729395
|
|
|
NM_001267550.2(TTN):c.97524A>C (p.Ile32508=)
|
rs755848026
|
|
|
NM_001267550.2(TTN):c.97555dup (p.Thr32519fs)
|
|
|
|
NM_001267550.2(TTN):c.97563C>T (p.Tyr32521=)
|
rs2154141681
|
|
|
NM_001267550.2(TTN):c.97584C>T (p.Gly32528=)
|
rs2154141663
|
|
|
NM_001267550.2(TTN):c.97588dup (p.Gln32530fs)
|
rs2154141656
|
|
|
NM_001267550.2(TTN):c.97592T>C (p.Val32531Ala)
|
rs1060500477
|
|
|
NM_001267550.2(TTN):c.97599A>C (p.Gly32533=)
|
|
|
|
NM_001267550.2(TTN):c.97605T>C (p.Ile32535=)
|
rs760676361
|
|
|
NM_001267550.2(TTN):c.97611G>A (p.Glu32537=)
|
|
|
|
NM_001267550.2(TTN):c.9761A>C (p.Lys3254Thr)
|
rs766499138
|
|
|
NM_001267550.2(TTN):c.97623G>C (p.Val32541=)
|
rs1060503961
|
|
|
NM_001267550.2(TTN):c.97629del (p.Asp32544fs)
|
|
|
|
NM_001267550.2(TTN):c.9762G>A (p.Lys3254=)
|
rs1057524449
|
|
|
NM_001267550.2(TTN):c.97633C>T (p.Arg32545Ter)
|
rs780653613
|
|
|
NM_001267550.2(TTN):c.97637G>A (p.Trp32546Ter)
|
|
|
|
NM_001267550.2(TTN):c.97647_97663dup (p.Thr32555delinsLysIleLysTyrLeuTer)
|
rs2154141588
|
|
|
NM_001267550.2(TTN):c.97659T>C (p.Pro32553=)
|
rs983103889
|
|
|
NM_001267550.2(TTN):c.97674G>T (p.Arg32558=)
|
|
|
|
NM_001267550.2(TTN):c.97683C>T (p.Ser32561=)
|
rs1575384283
|
|
|
NM_001267550.2(TTN):c.97686T>C (p.Thr32562=)
|
rs2154141572
|
|
|
NM_001267550.2(TTN):c.97695T>C (p.Thr32565=)
|
rs2154141565
|
|
|
NM_001267550.2(TTN):c.97701C>A (p.Gly32567=)
|
|
|
|
NM_001267550.2(TTN):c.97707A>G (p.Glu32569=)
|
rs1553513879
|
|
|
NM_001267550.2(TTN):c.97710T>C (p.Tyr32570=)
|
|
|
|
NM_001267550.2(TTN):c.97716C>T (p.His32572=)
|
|
|
|
NM_001267550.2(TTN):c.97722C>T (p.Val32574=)
|
|
|
|
NM_001267550.2(TTN):c.97734T>C (p.Asn32578=)
|
rs1165168872
|
|
|
NM_001267550.2(TTN):c.97738A>C (p.Arg32580=)
|
|
|
|
NM_001267550.2(TTN):c.97752A>G (p.Lys32584=)
|
|
|
|
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His)
|
rs55704830
|
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
|
NM_001267550.2(TTN):c.97761T>C (p.Arg32587=)
|
|
|
|
NM_001267550.2(TTN):c.97795+15T>C
|
|
|
|
NM_001267550.2(TTN):c.97795+8C>T
|
rs2154141488
|
|
|
NM_001267550.2(TTN):c.97795G>A (p.Ala32599Thr)
|
rs1694398754
|
|
|
NM_001267550.2(TTN):c.97796-17C>A
|
|
|
|
NM_001267550.2(TTN):c.97796-18T>G
|
|
|
|
NM_001267550.2(TTN):c.97796-21TATTCT[2]
|
|
|
|
NM_001267550.2(TTN):c.97796-8A>C
|
rs1693808668
|
|
|
NM_001267550.2(TTN):c.97800T>C (p.Pro32600=)
|
rs1693804358
|
|
|
NM_001267550.2(TTN):c.97813C>T (p.Gln32605Ter)
|
rs1301441435
|
|
|
NM_001267550.2(TTN):c.97818C>T (p.Asn32606=)
|
rs1553512177
|
|
|
NM_001267550.2(TTN):c.97839A>G (p.Thr32613=)
|
rs2154140595
|
|
|
NM_001267550.2(TTN):c.97855_97871dup (p.Glu32625fs)
|
|
|
|
NM_001267550.2(TTN):c.97887A>T (p.Gly32629=)
|
rs755894229
|
|
|
NM_001267550.2(TTN):c.97888T>G (p.Ser32630Ala)
|
rs1553512070
|
|
|
NM_001267550.2(TTN):c.9789C>G (p.Ser3263=)
|
rs138313387
|
|
|
NM_001267550.2(TTN):c.97927del (p.Asp32643fs)
|
|
|
|
NM_001267550.2(TTN):c.97944C>G (p.Thr32648=)
|
rs367773598
|
|
|
NM_001267550.2(TTN):c.97950dup (p.Asn32651Ter)
|
rs2154140546
|
|
|
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)
|
|
|
|
NM_001267550.2(TTN):c.97978T>G (p.Tyr32660Asp)
|
rs781416687
|
|
|
NM_001267550.2(TTN):c.97983T>G (p.Thr32661=)
|
rs774412007
|
|
|
NM_001267550.2(TTN):c.97992C>A (p.His32664Gln)
|
rs794729549
|
|
|
NM_001267550.2(TTN):c.97992C>T (p.His32664=)
|
rs794729549
|
|
|
NM_001267550.2(TTN):c.98013C>T (p.Tyr32671=)
|
|
|
|
NM_001267550.2(TTN):c.98019C>T (p.Phe32673=)
|
|
|
|
NM_001267550.2(TTN):c.98019_98031dup (p.Cys32678fs)
|
|
|
|
NM_001267550.2(TTN):c.9801G>A (p.Gln3267=)
|
rs2154339928
|
|
|
NM_001267550.2(TTN):c.98028A>G (p.Leu32676=)
|
rs2154140488
|
|
|
NM_001267550.2(TTN):c.98051G>C (p.Gly32684Ala)
|
rs774041992
|
|
|
NM_001267550.2(TTN):c.98072del (p.Gly32691fs)
|
|
|
|
NM_001267550.2(TTN):c.98077_98080del (p.Val32693fs)
|
|
|
|
NM_001267550.2(TTN):c.98079C>A (p.Val32693=)
|
|
|
|
NM_001267550.2(TTN):c.98098+10A>C
|
rs2154140442
|
|
|
NM_001267550.2(TTN):c.98098+12G>A
|
|
|
|
NM_001267550.2(TTN):c.98098+15C>T
|
rs1559093759
|
|
|
NM_001267550.2(TTN):c.98098+1G>T
|
|
|
|
NM_001267550.2(TTN):c.98098+7C>A
|
|
|
|
NM_001267550.2(TTN):c.98098+9T>C
|
rs2288325
|
|
|
NM_001267550.2(TTN):c.98099-12del
|
|
|
|
NM_001267550.2(TTN):c.98099-13C>A
|
|
|
|
NM_001267550.2(TTN):c.98099-14_98099-11del
|
|
|
|
NM_001267550.2(TTN):c.98099-9T>C
|
|
|
|
NM_001267550.2(TTN):c.98103T>C (p.Tyr32701=)
|
|
|
|
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter)
|
rs727504679
|
|
|
NM_001267550.2(TTN):c.98136del (p.Gly32713fs)
|
rs2154140292
|
|
|
NM_001267550.2(TTN):c.9813C>G (p.Ser3271=)
|
|
|
|
NM_001267550.2(TTN):c.98157T>C (p.Gly32719=)
|
rs1373988691
|
|
|
NM_001267550.2(TTN):c.98164A>C (p.Ile32722Leu)
|
rs72648270
|
|
|
NM_001267550.2(TTN):c.98164del (p.Ile32722fs)
|
|
|
|
NM_001267550.2(TTN):c.98168_98169del (p.Arg32723fs)
|
rs2154140269
|
|
|
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs)
|
rs1275153634
|
|
|
NM_001267550.2(TTN):c.9819C>T (p.Tyr3273=)
|
rs2154339915
|
|
|
NM_001267550.2(TTN):c.98208T>C (p.Cys32736=)
|
rs921383690
|
|
|
NM_001267550.2(TTN):c.98214G>C (p.Trp32738Cys)
|
rs764039252
|
|
|
NM_001267550.2(TTN):c.98218A>G (p.Lys32740Glu)
|
rs1553510781
|
|
|
NM_001267550.2(TTN):c.98232T>C (p.Asp32744=)
|
|
|
|
NM_001267550.2(TTN):c.98274T>C (p.Thr32758=)
|
|
|
|
NM_001267550.2(TTN):c.98277G>A (p.Glu32759=)
|
|
|
|
NM_001267550.2(TTN):c.9828G>A (p.Glu3276=)
|
rs2154339911
|
|
|
NM_001267550.2(TTN):c.98299A>G (p.Arg32767Gly)
|
rs1553510330
|
|
|
NM_001267550.2(TTN):c.98299del (p.Arg32767fs)
|
rs772061676
|
|
|
NM_001267550.2(TTN):c.9829C>T (p.Gln3277Ter)
|
|
|
|
NM_001267550.2(TTN):c.98304T>C (p.Gly32768=)
|
|
|
|
NM_001267550.2(TTN):c.98310T>C (p.Ser32770=)
|
|
|
|
NM_001267550.2(TTN):c.98324del (p.Leu32775fs)
|
rs2154140145
|
|
|
NM_001267550.2(TTN):c.9834G>T (p.Leu3278=)
|
rs2154339910
|
|
|
NM_001267550.2(TTN):c.98358C>A (p.Val32786=)
|
|
|
|
NM_001267550.2(TTN):c.98358C>T (p.Val32786=)
|
rs1466390296
|
|
|
NM_001267550.2(TTN):c.98376G>A (p.Val32792=)
|
rs2154140110
|
|
|
NM_001267550.2(TTN):c.98385T>C (p.Ser32795=)
|
rs373396567
|
|
|
NM_001267550.2(TTN):c.98403G>C (p.Gly32801=)
|
|
|
|
NM_001267550.2(TTN):c.98406A>G (p.Pro32802=)
|
rs2154140086
|
|
|
NM_001267550.2(TTN):c.98407C>T (p.Leu32803=)
|
rs767525789
|
|
|
NM_001267550.2(TTN):c.9841_9842del (p.Thr3281fs)
|
rs2090036916
|
|
|
NM_001267550.2(TTN):c.98421_98422insGG (p.Ile32808fs)
|
rs2154140080
|
|
|
NM_001267550.2(TTN):c.98432_98433dup (p.Ser32812fs)
|
|
|
|
NM_001267550.2(TTN):c.98450G>A (p.Trp32817Ter)
|
rs2154140054
|
|
|
NM_001267550.2(TTN):c.9846C>T (p.Gly3282=)
|
|
|
|
NM_001267550.2(TTN):c.98472T>C (p.Gly32824=)
|
|
|
|
NM_001267550.2(TTN):c.98490C>T (p.Gly32830=)
|
rs2154140025
|
|
|
NM_001267550.2(TTN):c.98496C>A (p.Ile32832=)
|
|
|
|
NM_001267550.2(TTN):c.9849C>G (p.Phe3283Leu)
|
rs780860026
|
|
|
NM_001267550.2(TTN):c.98500del (p.Glu32834fs)
|
rs2154140017
|
|
|
NM_001267550.2(TTN):c.98505A>G (p.Arg32835=)
|
rs2154140007
|
|
|
NM_001267550.2(TTN):c.98506C>A (p.Arg32836=)
|
|
|
|
NM_001267550.2(TTN):c.98515C>A (p.Pro32839Thr)
|
rs949917519
|
|
|
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter)
|
rs727504550
|
|
|
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter)
|
rs553821887
|
|
|
NM_001267550.2(TTN):c.98574A>G (p.Lys32858=)
|
rs2154139939
|
|
|
NM_001267550.2(TTN):c.98577C>A (p.Gly32859=)
|
|
|
|
NM_001267550.2(TTN):c.98604C>T (p.Phe32868=)
|
rs2154139916
|
|
|
NM_001267550.2(TTN):c.98623C>T (p.Gln32875Ter)
|
rs1693309648
|
|
|
NM_001267550.2(TTN):c.98625_98634del (p.Phe32876fs)
|
rs2154139897
|
|
|
NM_001267550.2(TTN):c.98627_98628del (p.Phe32876fs)
|
|
|
|
NM_001267550.2(TTN):c.98637del (p.Ser32879fs)
|
|
|
|
NM_001267550.2(TTN):c.98646G>A (p.Leu32882=)
|
|
|
|
NM_001267550.2(TTN):c.98649A>G (p.Lys32883=)
|
|
|
|
NM_001267550.2(TTN):c.98652T>C (p.Ser32884=)
|
|
|
|
NM_001267550.2(TTN):c.98660del (p.Pro32887fs)
|
rs1553509300
|
|
|
NM_001267550.2(TTN):c.98676A>G (p.Thr32892=)
|
|
|
|
NM_001267550.2(TTN):c.98679A>G (p.Pro32893=)
|
|
|
|
NM_001267550.2(TTN):c.98683+14C>T
|
rs779592120
|
|
|
NM_001267550.2(TTN):c.98683+18C>G
|
rs1207576960
|
|
|
NM_001267550.2(TTN):c.98683+3A>C
|
rs1693285723
|
|
|
NM_001267550.2(TTN):c.98683+3A>G
|
rs1693285723
|
|
|
NM_001267550.2(TTN):c.98684-13C>T
|
|
|
|
NM_001267550.2(TTN):c.98684-13_98684-10dup
|
rs2154139728
|
|
|
NM_001267550.2(TTN):c.98684-18T>C
|
|
|
|
NM_001267550.2(TTN):c.98715A>G (p.Glu32905=)
|
|
|
|
NM_001267550.2(TTN):c.98718A>G (p.Val32906=)
|
|
|
|
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=)
|
rs375361462
|
|
|
NM_001267550.2(TTN):c.98721C>T (p.Leu32907=)
|
rs375361462
|
|
|
NM_001267550.2(TTN):c.9873G>A (p.Gly3291=)
|
|
|
|
NM_001267550.2(TTN):c.98745C>T (p.Ser32915=)
|
rs2154139672
|
|
|
NM_001267550.2(TTN):c.98758C>T (p.Arg32920Trp)
|
rs755031142
|
|
|
NM_001267550.2(TTN):c.98774del (p.Gly32925fs)
|
rs2154139656
|
|
|
NM_001267550.2(TTN):c.98793C>T (p.Gly32931=)
|
|
|
|
NM_001267550.2(TTN):c.98799C>T (p.Tyr32933=)
|
|
|
|
NM_001267550.2(TTN):c.98803G>T (p.Glu32935Ter)
|
rs1407053984
|
|
|
NM_001267550.2(TTN):c.98810_98811del (p.Lys32937fs)
|
|
|
|
NM_001267550.2(TTN):c.98811A>G (p.Lys32937=)
|
|
|
|
NM_001267550.2(TTN):c.98814G>A (p.Glu32938=)
|
rs879188237
|
|
|
NM_001267550.2(TTN):c.98826C>T (p.Asp32942=)
|
|
|
|
NM_001267550.2(TTN):c.98829G>A (p.Lys32943=)
|
|
|
|
NM_001267550.2(TTN):c.98862C>T (p.Thr32954=)
|
|
|
|
NM_001267550.2(TTN):c.98871C>T (p.Tyr32957=)
|
|
|
|
NM_001267550.2(TTN):c.98874T>C (p.Thr32958=)
|
rs2154139580
|
|
|
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)
|
rs186405108
|
|
|
NM_001267550.2(TTN):c.98898T>C (p.Ala32966=)
|
rs2154139561
|
|
|
NM_001267550.2(TTN):c.98901G>A (p.Glu32967=)
|
rs1156601785
|
|
|
NM_001267550.2(TTN):c.98910C>T (p.Phe32970=)
|
|
|
|
NM_001267550.2(TTN):c.98919C>T (p.Ile32973=)
|
rs776133124
|
|
|
NM_001267550.2(TTN):c.98937C>T (p.Gly32979=)
|
rs1033038689
|
|
|
NM_001267550.2(TTN):c.98940G>A (p.Leu32980=)
|
|
|
|
NM_001267550.2(TTN):c.98946G>A (p.Glu32982=)
|
|
|
|
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu)
|
rs727504588
|
|
|
NM_001267550.2(TTN):c.98989+14A>G
|
|
|
|
NM_001267550.2(TTN):c.98989+17_98989+19del
|
|
|
|
NM_001267550.2(TTN):c.98989+19G>A
|
|
|
|
NM_001267550.2(TTN):c.98989+1G>A
|
rs112240298
|
|
|
NM_001267550.2(TTN):c.98989+9_98989+10del
|
rs2154139504
|
|
|
NM_001267550.2(TTN):c.98990-11A>C
|
rs1692982332
|
|
|
NM_001267550.2(TTN):c.98990-11A>T
|
rs1692982332
|
|
|
NM_001267550.2(TTN):c.98990-19T>C
|
|
|
|
NM_001267550.2(TTN):c.98990-2A>C
|
rs2154139399
|
|
|
NM_001267550.2(TTN):c.98992A>T (p.Lys32998Ter)
|
|
|
|
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)
|
rs727504535
|
|
|
NM_001267550.2(TTN):c.99027A>G (p.Ser33009=)
|
rs1692959497
|
|
|
NM_001267550.2(TTN):c.99033C>T (p.Ser33011=)
|
|
|
|
NM_001267550.2(TTN):c.99033del (p.Asp33013fs)
|
|
|
|
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter)
|
rs771511344
|
|
|
NM_001267550.2(TTN):c.99038_99041dup (p.Ser33014delinsArgTer)
|
|
|
|
NM_001267550.2(TTN):c.99041del (p.Ser33014fs)
|
rs2154139357
|
|
|
NM_001267550.2(TTN):c.99048T>C (p.Thr33016=)
|
|
|
|
NM_001267550.2(TTN):c.99048T>G (p.Thr33016=)
|
rs570697555
|
|
|
NM_001267550.2(TTN):c.99063del (p.Lys33021fs)
|
rs1445687820
|
|
|
NM_001267550.2(TTN):c.99080G>A (p.Gly33027Asp)
|
rs1060500594
|
|
|
NM_001267550.2(TTN):c.99112A>C (p.Arg33038=)
|
|
|
|
NM_001267550.2(TTN):c.99113_99114del (p.Arg33038fs)
|
rs2154139316
|
|
|
NM_001267550.2(TTN):c.99141G>A (p.Lys33047=)
|
rs770179579
|
|
|
NM_001267550.2(TTN):c.99144C>T (p.Ser33048=)
|
rs748466729
|
|
|
NM_001267550.2(TTN):c.99156dup (p.Ile33053fs)
|
rs2154139263
|
|
|
NM_001267550.2(TTN):c.99162G>C (p.Lys33054Asn)
|
rs368686031
|
|
|
NM_001267550.2(TTN):c.99171A>G (p.Gln33057=)
|
|
|
|
NM_001267550.2(TTN):c.99181G>T (p.Gly33061Ter)
|
|
|
|
NM_001267550.2(TTN):c.99184_99185dup (p.Leu33063fs)
|
rs794729396
|
|
|
NM_001267550.2(TTN):c.99197C>G (p.Ala33066Gly)
|
rs1172364516
|
|
|
NM_001267550.2(TTN):c.99204G>A (p.Glu33068=)
|
|
|
|
NM_001267550.2(TTN):c.99210A>G (p.Glu33070=)
|
|
|
|
NM_001267550.2(TTN):c.99213C>T (p.Phe33071=)
|
rs2154139226
|
|
|
NM_001267550.2(TTN):c.99256A>T (p.Arg33086Ter)
|
|
|
|
NM_001267550.2(TTN):c.99277A>T (p.Thr33093Ser)
|
rs748796464
|
|
|
NM_001267550.2(TTN):c.9927T>C (p.Tyr3309=)
|
|
|
|
NM_001267550.2(TTN):c.99285C>A (p.Leu33095=)
|
rs1575341165
|
|
|
NM_001267550.2(TTN):c.99289+14G>C
|
|
|
|
NM_001267550.2(TTN):c.99289+15G>C
|
|
|
|
NM_001267550.2(TTN):c.99289+15G>T
|
rs796187661
|
|
|
NM_001267550.2(TTN):c.99289+1G>C
|
rs2154139165
|
|
|
NM_001267550.2(TTN):c.99290-10T>C
|
|
|
|
NM_001267550.2(TTN):c.99290-17T>C
|
|
|
|
NM_001267550.2(TTN):c.99290-6G>A
|
rs727504987
|
|
|
NM_001267550.2(TTN):c.99290-8T>C
|
rs1692344764
|
|
|
NM_001267550.2(TTN):c.99303A>G (p.Pro33101=)
|
rs2154138528
|
|
|
NM_001267550.2(TTN):c.99312C>T (p.Arg33104=)
|
rs750582625
|
|
|
NM_001267550.2(TTN):c.99315del (p.Glu33106fs)
|
|
|
|
NM_001267550.2(TTN):c.99324G>A (p.Lys33108=)
|
|
|
|
NM_001267550.2(TTN):c.9932_9935del (p.Thr3310_Cys3311insTer)
|
rs2090019809
|
|
|
NM_001267550.2(TTN):c.99354T>C (p.Ala33118=)
|
|
|
|
NM_001267550.2(TTN):c.99362C>G (p.Ser33121Ter)
|
|
|
|
NM_001267550.2(TTN):c.99366C>A (p.Cys33122Ter)
|
|
|
|
NM_001267550.2(TTN):c.99369G>A (p.Gln33123=)
|
rs1060503953
|
|
|
NM_001267550.2(TTN):c.99372T>A (p.Ile33124=)
|
|
|
|
NM_001267550.2(TTN):c.99379A>C (p.Arg33127=)
|
|
|
|
NM_001267550.2(TTN):c.99405_99406del (p.Tyr33135_Arg33136delinsTer)
|
|
|
|
NM_001267550.2(TTN):c.99408A>G (p.Arg33136=)
|
|
|
|
NM_001267550.2(TTN):c.99423C>T (p.Leu33141=)
|
rs2154138445
|
|
|
NM_001267550.2(TTN):c.99456T>C (p.Asp33152=)
|
rs2154138430
|
|
|
NM_001267550.2(TTN):c.99459A>T (p.Gly33153=)
|
|
|
|
NM_001267550.2(TTN):c.9945T>C (p.Asn3315=)
|
rs747810725
|
|
|
NM_001267550.2(TTN):c.99463dup (p.Thr33155fs)
|
|
|
|
NM_001267550.2(TTN):c.99465A>C (p.Thr33155=)
|
|
|
|
NM_001267550.2(TTN):c.99468C>T (p.His33156=)
|
|
|
|
NM_001267550.2(TTN):c.99477A>G (p.Thr33159=)
|
rs761143099
|
|
|
NM_001267550.2(TTN):c.99487G>T (p.Glu33163Ter)
|
|
|
|
NM_001267550.2(TTN):c.99493C>T (p.Gln33165Ter)
|
|
|
|
NM_001267550.2(TTN):c.99498del (p.Asp33167fs)
|
|
|
|
NM_001267550.2(TTN):c.99501T>C (p.Asp33167=)
|
rs2154138400
|
|
|
NM_001267550.2(TTN):c.99515C>A (p.Thr33172Asn)
|
rs1060500510
|
|
|
NM_001267550.2(TTN):c.99516C>G (p.Thr33172=)
|
|
|
|
NM_001267550.2(TTN):c.99534G>A (p.Glu33178=)
|
|
|
|
NM_001267550.2(TTN):c.99536T>A (p.Val33179Asp)
|
rs576759867
|
|
|
NM_001267550.2(TTN):c.99546A>G (p.Val33182=)
|
|
|
|
NM_001267550.2(TTN):c.99555T>C (p.Ser33185=)
|
|
|
|
NM_001267550.2(TTN):c.99567C>G (p.Leu33189=)
|
rs745708104
|
|
|
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=)
|
rs745708104
|
|
|
NM_001267550.2(TTN):c.99569T>G (p.Leu33190Arg)
|
rs1553504950
|
|
|
NM_001267550.2(TTN):c.99583C>T (p.Gln33195Ter)
|
|
|
|
NM_001267550.2(TTN):c.99588_99595del (p.Phe33196fs)
|
rs1553504889
|
|
|
NM_001267550.2(TTN):c.99606G>A (p.Leu33202=)
|
rs1222365557
|
|
|
NM_001267550.2(TTN):c.99610G>T (p.Glu33204Ter)
|
rs1490008675
|
|
|
NM_001267550.2(TTN):c.99627T>C (p.Ala33209=)
|
|
|
|
NM_001267550.2(TTN):c.99631G>A (p.Gly33211Ser)
|
rs1553504771
|
|
|
NM_001267550.2(TTN):c.99636C>G (p.Ser33212=)
|
rs1575326710
|
|
|
NM_001267550.2(TTN):c.99636C>T (p.Ser33212=)
|
|
|
|
NM_001267550.2(TTN):c.99639A>G (p.Thr33213=)
|
rs755522463
|
|
|
NM_001267550.2(TTN):c.99681C>G (p.Ala33227=)
|
|
|
|
NM_001267550.2(TTN):c.99693C>T (p.Phe33231=)
|
rs2154138294
|
|
|
NM_001267550.2(TTN):c.99696T>C (p.His33232=)
|
|
|
|
NM_001267550.2(TTN):c.99709T>C (p.Leu33237=)
|
rs879202597
|
|
|
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter)
|
rs794727539
|
|
|
NM_001267550.2(TTN):c.99727A>G (p.Ile33243Val)
|
rs1553504488
|
|
|
NM_001267550.2(TTN):c.99756T>G (p.Thr33252=)
|
|
|
|
NM_001267550.2(TTN):c.99765C>T (p.Val33255=)
|
rs1060503965
|
|
|
NM_001267550.2(TTN):c.99774T>A (p.Asn33258Lys)
|
rs758792040
|
|
|
NM_001267550.2(TTN):c.99783dup (p.Lys33262Ter)
|
rs1575324979
|
|
|
NM_001267550.2(TTN):c.99786_99790del (p.Thr33263fs)
|
rs2154138232
|
|
|
NM_001267550.2(TTN):c.99789T>A (p.Thr33263=)
|
rs574923385
|
|
|
NM_001267550.2(TTN):c.99797_99800dup (p.Tyr33268fs)
|
|
|
|
NM_001267550.2(TTN):c.99804C>T (p.Tyr33268=)
|
rs2154138223
|
|
|
NM_001267550.2(TTN):c.99810C>A (p.Val33270=)
|
rs564536939
|
|
|
NM_001267550.2(TTN):c.99810C>T (p.Val33270=)
|
rs564536939
|
|
|
NM_001267550.2(TTN):c.99816C>G (p.Leu33272=)
|
|
|
|
NM_001267550.2(TTN):c.9981A>C (p.Ser3327=)
|
|
|
|
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)
|
rs397517781
|
|
|
NM_001267550.2(TTN):c.99853_99854insGGGAAATACAAATTCCAGCTCAGCAATGTTTTTGGAACAGTTGATGCCATCCTTGATG (p.Val33285delinsGlyGluIleGlnIleProAlaGlnGlnCysPheTrpAsnSerTer)
|
|
|
|
NM_001267550.2(TTN):c.99865+1G>T
|
|
|
|
NM_001267550.2(TTN):c.99865+3A>T
|
rs1692081223
|
|
|
NM_001267550.2(TTN):c.99874del (p.Asp33292fs)
|
|
|
|
NM_001267550.2(TTN):c.99879A>G (p.Lys33293=)
|
|
|
|
NM_001267550.2(TTN):c.9988+10C>T
|
|
|
|
NM_001267550.2(TTN):c.9988+15C>G
|
|
|
|
NM_001267550.2(TTN):c.9988+2T>C
|
rs1298389127
|
|
|
NM_001267550.2(TTN):c.9988G>T (p.Val3330Phe)
|
rs2090011986
|
|
|
NM_001267550.2(TTN):c.9989-11del
|
rs2154339717
|
|
|
NM_001267550.2(TTN):c.9989-14G>A
|
rs757352738
|
|
|
NM_001267550.2(TTN):c.9989-14G>T
|
|
|
|
NM_001267550.2(TTN):c.9989-5T>G
|
rs878854434
|
|
|
NM_001267550.2(TTN):c.99906_99916del (p.Leu33304fs)
|
|
|
|
NM_001267550.2(TTN):c.99910T>C (p.Leu33304=)
|
rs1162207200
|
|
|
NM_001267550.2(TTN):c.99933C>T (p.Ser33311=)
|
rs780775160
|
|
|
NM_001267550.2(TTN):c.99935G>A (p.Trp33312Ter)
|
rs2154138051
|
|
|
NM_001267550.2(TTN):c.99975C>T (p.Asn33325=)
|
|
|
|
NM_001267550.2(TTN):c.99978T>C (p.Tyr33326=)
|
rs1280421729
|
|
|
NM_001267550.2(TTN):c.999C>A (p.Ser333=)
|
|
|
|
NM_001271208.1(NEB):c.21103delG
|
rs1553686994
|
|
|
NM_001271208.1(NEB):c.21213_21218del
|
rs1553683577
|
|
|
NM_001271208.1(NEB):c.23940+17_23940+21del
|
rs768100915
|
|
|
NM_001271208.1(NEB):c.7291G>A
|
rs767302772
|
|
|
NM_001271208.2(NEB):c.18696_18697insSVAelement
|
|
|
|
NM_001278188.2(TPM3):c.69-3046CTGAGG[3]
|
|
|
|
NM_001368067.1(LDB3):c.322-1G>A
|
|
|
|
NM_001368067.1(LDB3):c.323T>C (p.Val108Ala)
|
|
|
|
NM_001368067.1(LDB3):c.326T>G (p.Val109Gly)
|
rs2132390366
|
|
|
NM_001368067.1(LDB3):c.332A>G (p.Asn111Ser)
|
rs1845427971
|
|
|
NM_001368067.1(LDB3):c.338C>T (p.Pro113Leu)
|
|
|
|
NM_001368067.1(LDB3):c.344+2T>C
|
rs1264291601
|
|
|
NM_001368067.1(LDB3):c.349G>C (p.Asp117His)
|
rs121908338
|
|
|
NM_001368067.1(LDB3):c.353A>C (p.Tyr118Ser)
|
rs1845519689
|
|
|
NM_001368067.1(LDB3):c.355C>T (p.Gln119Ter)
|
rs1564639205
|
|
|
NM_001368067.1(LDB3):c.358G>A (p.Glu120Lys)
|
rs773370724
|
|
|
NM_001368067.1(LDB3):c.364T>A (p.Phe122Ile)
|
rs1845520743
|
|
|
NM_001368067.1(LDB3):c.369C>A (p.Asn123Lys)
|
|
|
|
NM_001368067.1(LDB3):c.371C>T (p.Pro124Leu)
|
|
|
|
NM_001368067.1(LDB3):c.374G>A (p.Ser125Asn)
|
|
|
|
NM_001368067.1(LDB3):c.382A>C (p.Lys128Gln)
|
rs2132396809
|
|
|
NM_001368067.1(LDB3):c.389C>T (p.Ser130Leu)
|
|
|
|
NM_001368067.1(LDB3):c.394C>T (p.Leu132=)
|
|
|
|
NM_001368067.1(LDB3):c.405C>G (p.His135Gln)
|
rs928294708
|
|
|
NM_001368067.1(LDB3):c.410C>A (p.Pro137His)
|
|
|
|
NM_001368067.1(LDB3):c.413T>A (p.Ile138Asn)
|
|
|
|
NM_001368067.1(LDB3):c.414C>T (p.Ile138=)
|
rs372423575
|
|
|
NM_001368067.1(LDB3):c.420G>C (p.Val140=)
|
|
|
|
NM_001368067.1(LDB3):c.426G>A (p.Gly142=)
|
rs760615794
|
|
|
NM_001368067.1(LDB3):c.432C>A (p.Gly144=)
|
|
|
|
NM_001368067.1(LDB3):c.433G>C (p.Gly145Arg)
|
|
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
|
NM_001368067.1(LDB3):c.452A>G (p.His151Arg)
|
|
|
|
NM_001368067.1(LDB3):c.467C>T (p.Thr156Met)
|
rs778658354
|
|
|
NM_001368067.1(LDB3):c.468G>A (p.Thr156=)
|
rs745413406
|
|
|
NM_001368067.1(LDB3):c.468G>T (p.Thr156=)
|
|
|
|
NM_001368067.1(LDB3):c.472A>G (p.Ile158Val)
|
rs1845528164
|
|
|
NM_001368067.1(LDB3):c.480G>A (p.Met160Ile)
|
rs1413446799
|
|
|
NM_001368067.1(LDB3):c.486C>T (p.Ser162=)
|
|
|
|
NM_001368067.1(LDB3):c.490G>A (p.Asp164Asn)
|
|
|
|
NM_001368067.1(LDB3):c.491A>G (p.Asp164Gly)
|
|
|
|
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)
|
rs121908334
|
|
|
NM_001368067.1(LDB3):c.503A>T (p.Asp168Val)
|
|
|
|
NM_001368067.1(LDB3):c.507C>T (p.Ala169=)
|
rs2132397471
|
|
|
NM_001368067.1(LDB3):c.510C>T (p.Ile170=)
|
|
|
|
NM_001368067.1(LDB3):c.511G>T (p.Ala171Ser)
|
rs373632943
|
|
|
NM_001368067.1(LDB3):c.519G>A (p.Gln173=)
|
rs537783577
|
|
|
NM_001368067.1(LDB3):c.772G>A (p.Glu258Lys)
|
rs868365512
|
|
|
NM_001368067.1(LDB3):c.775C>T (p.Arg259Cys)
|
|
|
|
NM_001368067.1(LDB3):c.779A>C (p.Asn260Thr)
|
|
|
|
NM_001368067.1(LDB3):c.779A>G (p.Asn260Ser)
|
rs1299041306
|
|
|
NM_001368067.1(LDB3):c.779A>T (p.Asn260Ile)
|
rs1299041306
|
|
|
NM_001368067.1(LDB3):c.790T>A (p.Phe264Ile)
|
|
|
|
NM_001368067.1(LDB3):c.802C>G (p.Arg268Gly)
|
rs121908335
|
|
|
NM_001368067.1(LDB3):c.810G>A (p.Trp270Ter)
|
rs1428065968
|
|
|
NM_001368067.1(LDB3):c.813C>T (p.His271=)
|
|
|
|
NM_001368067.1(LDB3):c.829C>A (p.Gln277Lys)
|
|
|
|
NM_001368067.1(LDB3):c.830A>C (p.Gln277Pro)
|
rs1589656313
|
|
|
NM_001368067.1(LDB3):c.837T>C (p.Leu279=)
|
|
|
|
NM_001368067.1(LDB3):c.841G>A (p.Val281Ile)
|
rs1846156698
|
|
|
NM_001368067.1(LDB3):c.847del (p.Ser283fs)
|
|
|
|
NM_001368067.1(LDB3):c.848G>A (p.Ser283Asn)
|
|
|
|
NM_001368067.1(LDB3):c.849C>T (p.Ser283=)
|
rs1846156972
|
|
|
NM_001378030.1(CCDC78):c.1003G>C (p.Glu335Gln)
|
|
|
|
NM_001378030.1(CCDC78):c.1005A>G (p.Glu335=)
|
|
|
|
NM_001378030.1(CCDC78):c.1012C>A (p.Pro338Thr)
|
rs951170993
|
|
|
NM_001378030.1(CCDC78):c.1014C>A (p.Pro338=)
|
rs764805299
|
|
|
NM_001378030.1(CCDC78):c.1015G>T (p.Val339Leu)
|
rs759037918
|
|
|
NM_001378030.1(CCDC78):c.101G>A (p.Gly34Glu)
|
rs2040894714
|
|
|
NM_001378030.1(CCDC78):c.1033T>C (p.Phe345Leu)
|
rs2040580658
|
|
|
NM_001378030.1(CCDC78):c.1037G>A (p.Ser346Asn)
|
|
|
|
NM_001378030.1(CCDC78):c.1042C>T (p.Arg348Trp)
|
|
|
|
NM_001378030.1(CCDC78):c.1043G>T (p.Arg348Leu)
|
rs142170929
|
|
|
NM_001378030.1(CCDC78):c.1044G>A (p.Arg348=)
|
rs1455517817
|
|
|
NM_001378030.1(CCDC78):c.1053+18C>T
|
|
|
|
NM_001378030.1(CCDC78):c.1053G>A (p.Gln351=)
|
|
|
|
NM_001378030.1(CCDC78):c.1054-16C>A
|
|
|
|
NM_001378030.1(CCDC78):c.1054-19C>T
|
|
|
|
NM_001378030.1(CCDC78):c.1054-20C>G
|
rs906009986
|
|
|
NM_001378030.1(CCDC78):c.1054-7T>A
|
|
|
|
NM_001378030.1(CCDC78):c.1065T>G (p.Pro355=)
|
|
|
|
NM_001378030.1(CCDC78):c.1066G>A (p.Gly356Arg)
|
|
|
|
NM_001378030.1(CCDC78):c.1067G>A (p.Gly356Glu)
|
rs1567315670
|
|
|
NM_001378030.1(CCDC78):c.1070C>A (p.Ala357Glu)
|
|
|
|
NM_001378030.1(CCDC78):c.1070C>T (p.Ala357Val)
|
rs767325446
|
|
|
NM_001378030.1(CCDC78):c.1075C>G (p.Leu359Val)
|
|
|
|
NM_001378030.1(CCDC78):c.107C>G (p.Thr36Ser)
|
rs2040893951
|
|
|
NM_001378030.1(CCDC78):c.1081T>C (p.Ser361Pro)
|
|
|
|
NM_001378030.1(CCDC78):c.1099G>A (p.Gly367Ser)
|
rs1021626011
|
|
|
NM_001378030.1(CCDC78):c.1110C>T (p.Ser370=)
|
|
|
|
NM_001378030.1(CCDC78):c.1114G>A (p.Gly372Arg)
|
rs780209156
|
|
|
NM_001378030.1(CCDC78):c.1114G>C (p.Gly372Arg)
|
rs780209156
|
|
|
NM_001378030.1(CCDC78):c.1133+10C>T
|
|
|
|
NM_001378030.1(CCDC78):c.1133+14T>C
|
|
|
|
NM_001378030.1(CCDC78):c.1133+3G>C
|
|
|
|
NM_001378030.1(CCDC78):c.1133+5G>C
|
rs751889492
|
|
|
NM_001378030.1(CCDC78):c.1134-12C>T
|
|
|
|
NM_001378030.1(CCDC78):c.1134-14C>T
|
|
|
|
NM_001378030.1(CCDC78):c.1134-16T>G
|
|
|
|
NM_001378030.1(CCDC78):c.1134-19C>T
|
rs1320283995
|
|
|
NM_001378030.1(CCDC78):c.1134-20C>T
|
|
|
|
NM_001378030.1(CCDC78):c.1134-7C>T
|
rs2151539558
|
|
|
NM_001378030.1(CCDC78):c.1144G>A (p.Ala382Thr)
|
|
|
|
NM_001378030.1(CCDC78):c.1174C>T (p.Leu392Phe)
|
|
|
|
NM_001378030.1(CCDC78):c.1178G>C (p.Arg393Pro)
|
rs376513788
|
|
|
NM_001378030.1(CCDC78):c.1180G>A (p.Asp394Asn)
|
|
|
|
NM_001378030.1(CCDC78):c.1181A>G (p.Asp394Gly)
|
|
|
|
NM_001378030.1(CCDC78):c.1182C>T (p.Asp394=)
|
|
|
|
NM_001378030.1(CCDC78):c.1187C>G (p.Ser396Cys)
|
|
|
|
NM_001378030.1(CCDC78):c.1190G>C (p.Arg397Pro)
|
|
|
|
NM_001378030.1(CCDC78):c.1200+10A>C
|
rs1320389377
|
|
|
NM_001378030.1(CCDC78):c.1200+10_1200+15del
|
rs2040380247
|
|
|
NM_001378030.1(CCDC78):c.1200+14_1200+18del
|
|
|
|
NM_001378030.1(CCDC78):c.1200+18G>A
|
rs2040379831
|
|
|
NM_001378030.1(CCDC78):c.1200+9C>A
|
rs907003896
|
|
|
NM_001378030.1(CCDC78):c.1201-15A>T
|
|
|
|
NM_001378030.1(CCDC78):c.1201-7A>G
|
|
|
|
NM_001378030.1(CCDC78):c.1207C>T (p.Leu403=)
|
rs941301878
|
|
|
NM_001378030.1(CCDC78):c.1213C>T (p.Arg405Trp)
|
rs563037365
|
|
|
NM_001378030.1(CCDC78):c.1219C>T (p.Arg407Trp)
|
rs773923207
|
|
|
NM_001378030.1(CCDC78):c.1237C>G (p.Arg413Gly)
|
rs780967551
|
|
|
NM_001378030.1(CCDC78):c.1252G>A (p.Glu418Lys)
|
rs2151537413
|
|
|
NM_001378030.1(CCDC78):c.1277A>C (p.Glu426Ala)
|
rs761180576
|
|
|
NM_001378030.1(CCDC78):c.1279T>C (p.Tyr427His)
|
rs558615304
|
|
|
NM_001378030.1(CCDC78):c.1287C>T (p.Asp429=)
|
rs1403494570
|
|
|
NM_001378030.1(CCDC78):c.1288C>T (p.Gln430Ter)
|
|
|
|
NM_001378030.1(CCDC78):c.1292A>G (p.His431Arg)
|
|
|
|
NM_001378030.1(CCDC78):c.1298G>A (p.Gly433Asp)
|
|
|
|
NM_001378030.1(CCDC78):c.12A>G (p.Ala4=)
|
|
|
|
NM_001378030.1(CCDC78):c.1301+14G>A
|
|
|
|
NM_001378030.1(CCDC78):c.1302-19G>A
|
|
|
|
NM_001378030.1(CCDC78):c.1302-19G>T
|
rs374237828
|
|
|
NM_001378030.1(CCDC78):c.1307A>G (p.Lys436Arg)
|
|
|
|
NM_001378030.1(CCDC78):c.1308G>A (p.Lys436=)
|
|
|
|
NM_001378030.1(CCDC78):c.1311C>G (p.His437Gln)
|
|
|
|
NM_001378030.1(CCDC78):c.1311C>T (p.His437=)
|
rs775569629
|
|
|
NM_001378030.1(CCDC78):c.1312G>A (p.Glu438Lys)
|
|
|
|
NM_001378030.1(CCDC78):c.139G>A (p.Val47Ile)
|
rs892740041
|
|
|
NM_001378030.1(CCDC78):c.13G>C (p.Ala5Pro)
|
|
|
|
NM_001378030.1(CCDC78):c.14C>T (p.Ala5Val)
|
rs2151579428
|
|
|
NM_001378030.1(CCDC78):c.156G>A (p.Ala52=)
|
|
|
|
NM_001378030.1(CCDC78):c.159C>T (p.Leu53=)
|
|
|
|
NM_001378030.1(CCDC78):c.15dup (p.Thr6fs)
|
rs1389255956
|
|
|
NM_001378030.1(CCDC78):c.178C>G (p.Gln60Glu)
|
|
|
|
NM_001378030.1(CCDC78):c.180+10G>C
|
|
|
|
NM_001378030.1(CCDC78):c.180+11_180+12delinsTT
|
rs373524109
|
|
|
NM_001378030.1(CCDC78):c.180+14C>A
|
|
|
|
NM_001378030.1(CCDC78):c.180+14C>T
|
rs747340016
|
|
|
NM_001378030.1(CCDC78):c.180+19C>T
|
rs12446058
|
|
|
NM_001378030.1(CCDC78):c.180+3G>T
|
rs1483977509
|
|
|
NM_001378030.1(CCDC78):c.191_194dup (p.Val66fs)
|
rs2040863479
|
|
|
NM_001378030.1(CCDC78):c.197T>G (p.Val66Gly)
|
|
|
|
NM_001378030.1(CCDC78):c.198C>G (p.Val66=)
|
|
|
|
NM_001378030.1(CCDC78):c.199G>A (p.Asp67Asn)
|
rs374105211
|
|
|
NM_001378030.1(CCDC78):c.20C>T (p.Thr7Ile)
|
|
|
|
NM_001378030.1(CCDC78):c.219C>T (p.His73=)
|
rs2151572538
|
|
|
NM_001378030.1(CCDC78):c.220C>T (p.His74Tyr)
|
rs1248260858
|
|
|
NM_001378030.1(CCDC78):c.224T>C (p.Leu75Pro)
|
|
|
|
NM_001378030.1(CCDC78):c.229G>A (p.Glu77Lys)
|
|
|
|
NM_001378030.1(CCDC78):c.231G>A (p.Glu77=)
|
|
|
|
NM_001378030.1(CCDC78):c.249C>A (p.Ile83=)
|
|
|
|
NM_001378030.1(CCDC78):c.252C>G (p.Phe84Leu)
|
rs766553371
|
|
|
NM_001378030.1(CCDC78):c.252C>T (p.Phe84=)
|
rs766553371
|
|
|
NM_001378030.1(CCDC78):c.253C>T (p.Gln85Ter)
|
|
|
|
NM_001378030.1(CCDC78):c.258G>A (p.Leu86=)
|
rs1190142185
|
|
|
NM_001378030.1(CCDC78):c.259A>G (p.Lys87Glu)
|
|
|
|
NM_001378030.1(CCDC78):c.265G>A (p.Glu89Lys)
|
|
|
|
NM_001378030.1(CCDC78):c.267+1G>A
|
|
|
|
NM_001378030.1(CCDC78):c.267+20A>C
|
|
|
|
NM_001378030.1(CCDC78):c.267G>A (p.Glu89=)
|
rs1246932109
|
|
|
NM_001378030.1(CCDC78):c.268-19C>T
|
rs1396117099
|
|
|
NM_001378030.1(CCDC78):c.268-2_272del
|
|
|
|
NM_001378030.1(CCDC78):c.268-7C>T
|
|
|
|
NM_001378030.1(CCDC78):c.26C>T (p.Pro9Leu)
|
rs1432188387
|
|
|
NM_001378030.1(CCDC78):c.275G>A (p.Arg92Gln)
|
rs766279961
|
|
|
NM_001378030.1(CCDC78):c.282G>A (p.Glu94=)
|
|
|
|
NM_001378030.1(CCDC78):c.285C>G (p.Ser95Arg)
|
|
|
|
NM_001378030.1(CCDC78):c.287G>A (p.Arg96Gln)
|
|
|
|
NM_001378030.1(CCDC78):c.288G>A (p.Arg96=)
|
|
|
|
NM_001378030.1(CCDC78):c.295GAGCTG[3] (p.Leu102_Arg103insGluLeu)
|
|
|
|
NM_001378030.1(CCDC78):c.297G>A (p.Glu99=)
|
rs200859995
|
|
|
NM_001378030.1(CCDC78):c.300G>A (p.Leu100=)
|
|
|
|
NM_001378030.1(CCDC78):c.310G>T (p.Gly104Ter)
|
|
|
|
NM_001378030.1(CCDC78):c.325C>T (p.Gln109Ter)
|
rs1042253618
|
|
|
NM_001378030.1(CCDC78):c.328G>A (p.Gly110Ser)
|
|
|
|
NM_001378030.1(CCDC78):c.329G>A (p.Gly110Asp)
|
|
|
|
NM_001378030.1(CCDC78):c.329G>T (p.Gly110Val)
|
rs369153172
|
|
|
NM_001378030.1(CCDC78):c.339C>T (p.Val113=)
|
|
|
|
NM_001378030.1(CCDC78):c.341C>G (p.Pro114Arg)
|
rs749051279
|
|
|
NM_001378030.1(CCDC78):c.356C>A (p.Pro119His)
|
rs750379614
|
|
|
NM_001378030.1(CCDC78):c.356C>G (p.Pro119Arg)
|
rs750379614
|
|
|
NM_001378030.1(CCDC78):c.369G>A (p.Arg123=)
|
|
|
|
NM_001378030.1(CCDC78):c.371C>A (p.Ala124Glu)
|
|
|
|
NM_001378030.1(CCDC78):c.377C>T (p.Ala126Val)
|
|
|
|
NM_001378030.1(CCDC78):c.384G>A (p.Glu128=)
|
|
|
|
NM_001378030.1(CCDC78):c.385C>A (p.Leu129Ile)
|
|
|
|
NM_001378030.1(CCDC78):c.400del (p.Gln134fs)
|
rs758119082
|
|
|
NM_001378030.1(CCDC78):c.402G>A (p.Gln134=)
|
|
|
|
NM_001378030.1(CCDC78):c.406C>T (p.Pro136Ser)
|
|
|
|
NM_001378030.1(CCDC78):c.416C>T (p.Ser139Phe)
|
rs374382609
|
|
|
NM_001378030.1(CCDC78):c.426_427del (p.His142fs)
|
|
|
|
NM_001378030.1(CCDC78):c.42C>G (p.Pro14=)
|
rs368628654
|
|
|
NM_001378030.1(CCDC78):c.42C>T (p.Pro14=)
|
rs368628654
|
|
|
NM_001378030.1(CCDC78):c.432C>T (p.Phe144=)
|
|
|
|
NM_001378030.1(CCDC78):c.435+13AT[3]
|
rs2151566358
|
|
|
NM_001378030.1(CCDC78):c.435+17G>A
|
rs752406944
|
|
|
NM_001378030.1(CCDC78):c.435+17G>C
|
|
|
|
NM_001378030.1(CCDC78):c.436-11C>T
|
|
|
|
NM_001378030.1(CCDC78):c.436-12C>T
|
|
|
|
NM_001378030.1(CCDC78):c.436-15C>G
|
|
|
|
NM_001378030.1(CCDC78):c.436-8C>T
|
|
|
|
NM_001378030.1(CCDC78):c.438G>A (p.Val146=)
|
|
|
|
NM_001378030.1(CCDC78):c.439C>T (p.Gln147Ter)
|
|
|
|
NM_001378030.1(CCDC78):c.441G>A (p.Gln147=)
|
|
|
|
NM_001378030.1(CCDC78):c.463G>A (p.Glu155Lys)
|
rs369344548
|
|
|
NM_001378030.1(CCDC78):c.467A>G (p.Asn156Ser)
|
rs2151564305
|
|
|
NM_001378030.1(CCDC78):c.46C>G (p.Arg16Gly)
|
rs746792512
|
|
|
NM_001378030.1(CCDC78):c.46C>T (p.Arg16Trp)
|
rs746792512
|
|
|
NM_001378030.1(CCDC78):c.474G>A (p.Gln158=)
|
rs1473631191
|
|
|
NM_001378030.1(CCDC78):c.477C>G (p.His159Gln)
|
|
|
|
NM_001378030.1(CCDC78):c.47G>C (p.Arg16Pro)
|
rs117949611
|
|
|
NM_001378030.1(CCDC78):c.488del (p.Ser163fs)
|
|
|
|
NM_001378030.1(CCDC78):c.489C>T (p.Ser163=)
|
|
|
|
NM_001378030.1(CCDC78):c.492+10C>T
|
rs2151563812
|
|
|
NM_001378030.1(CCDC78):c.493-13G>A
|
|
|
|
NM_001378030.1(CCDC78):c.493C>T (p.Leu165=)
|
rs1361254201
|
|
|
NM_001378030.1(CCDC78):c.495G>A (p.Leu165=)
|
rs2151562636
|
|
|
NM_001378030.1(CCDC78):c.499G>A (p.Gly167Arg)
|
rs2040740740
|
|
|
NM_001378030.1(CCDC78):c.49C>G (p.Arg17Gly)
|
|
|
|
NM_001378030.1(CCDC78):c.502G>C (p.Glu168Gln)
|
rs777794522
|
|
|
NM_001378030.1(CCDC78):c.508_512del (p.Lys170fs)
|
rs1466789176
|
|
|
NM_001378030.1(CCDC78):c.509A>G (p.Lys170Arg)
|
rs1555486210
|
|
|
NM_001378030.1(CCDC78):c.50G>A (p.Arg17Gln)
|
rs1046402338
|
|
|
NM_001378030.1(CCDC78):c.50G>C (p.Arg17Pro)
|
|
|
|
NM_001378030.1(CCDC78):c.50G>T (p.Arg17Leu)
|
rs1046402338
|
|
|
NM_001378030.1(CCDC78):c.515C>T (p.Ala172Val)
|
|
|
|
NM_001378030.1(CCDC78):c.517C>G (p.Leu173Val)
|
|
|
|
NM_001378030.1(CCDC78):c.51G>T (p.Arg17=)
|
rs949623191
|
|
|
NM_001378030.1(CCDC78):c.535C>A (p.Arg179=)
|
|
|
|
NM_001378030.1(CCDC78):c.545C>T (p.Ala182Val)
|
rs1000549010
|
|
|
NM_001378030.1(CCDC78):c.548_549delinsGA (p.Leu183Arg)
|
rs2151561882
|
|
|
NM_001378030.1(CCDC78):c.553_554delinsTA (p.Thr185Ter)
|
|
|
|
NM_001378030.1(CCDC78):c.555G>A (p.Thr185=)
|
|
|
|
NM_001378030.1(CCDC78):c.558T>C (p.Arg186=)
|
|
|
|
NM_001378030.1(CCDC78):c.560+17C>T
|
|
|
|
NM_001378030.1(CCDC78):c.560_560+3del
|
|
|
|
NM_001378030.1(CCDC78):c.561-10G>A
|
|
|
|
NM_001378030.1(CCDC78):c.561-15C>T
|
|
|
|
NM_001378030.1(CCDC78):c.561-19C>G
|
|
|
|
NM_001378030.1(CCDC78):c.571_582del (p.Gly191_Leu194del)
|
rs1035417733
|
|
|
NM_001378030.1(CCDC78):c.580C>T (p.Leu194=)
|
rs2151560388
|
|
|
NM_001378030.1(CCDC78):c.585G>A (p.Gln195=)
|
rs1192759468
|
|
|
NM_001378030.1(CCDC78):c.592C>G (p.Arg198Gly)
|
|
|
|
NM_001378030.1(CCDC78):c.598G>A (p.Glu200Lys)
|
rs1031306587
|
|
|
NM_001378030.1(CCDC78):c.60+20C>G
|
|
|
|
NM_001378030.1(CCDC78):c.60+2T>C
|
rs1289274795
|
|
|
NM_001378030.1(CCDC78):c.60+3G>A
|
|
|
|
NM_001378030.1(CCDC78):c.61-13G>A
|
|
|
|
NM_001378030.1(CCDC78):c.61-13G>T
|
|
|
|
NM_001378030.1(CCDC78):c.61-16G>A
|
|
|
|
NM_001378030.1(CCDC78):c.61-2A>G
|
|
|
|
NM_001378030.1(CCDC78):c.61-6C>A
|
|
|
|
NM_001378030.1(CCDC78):c.611C>A (p.Ala204Asp)
|
rs2040706093
|
|
|
NM_001378030.1(CCDC78):c.615G>T (p.Gly205=)
|
rs2040704923
|
|
|
NM_001378030.1(CCDC78):c.616C>T (p.Gln206Ter)
|
|
|
|
NM_001378030.1(CCDC78):c.620G>C (p.Arg207Pro)
|
|
|
|
NM_001378030.1(CCDC78):c.639+13C>T
|
rs1312612578
|
|
|
NM_001378030.1(CCDC78):c.639+17_639+20del
|
rs746844399
|
|
|
NM_001378030.1(CCDC78):c.639+4A>G
|
|
|
|
NM_001378030.1(CCDC78):c.640-17G>A
|
rs1020697264
|
|
|
NM_001378030.1(CCDC78):c.640-5C>T
|
rs1814238789
|
|
|
NM_001378030.1(CCDC78):c.645G>A (p.Leu215=)
|
|
|
|
NM_001378030.1(CCDC78):c.648C>T (p.Cys216=)
|
|
|
|
NM_001378030.1(CCDC78):c.667C>T (p.Arg223Cys)
|
|
|
|
NM_001378030.1(CCDC78):c.668G>T (p.Arg223Leu)
|
|
|
|
NM_001378030.1(CCDC78):c.669T>C (p.Arg223=)
|
|
|
|
NM_001378030.1(CCDC78):c.671A>G (p.Gln224Arg)
|
|
|
|
NM_001378030.1(CCDC78):c.679G>T (p.Ala227Ser)
|
|
|
|
NM_001378030.1(CCDC78):c.688G>A (p.Ala230Thr)
|
|
|
|
NM_001378030.1(CCDC78):c.691C>G (p.Arg231Gly)
|
rs527479144
|
|
|
NM_001378030.1(CCDC78):c.691C>T (p.Arg231Trp)
|
|
|
|
NM_001378030.1(CCDC78):c.692G>A (p.Arg231Gln)
|
rs147504073
|
|
|
NM_001378030.1(CCDC78):c.692G>T (p.Arg231Leu)
|
rs147504073
|
|
|
NM_001378030.1(CCDC78):c.703_708dup (p.233QL[3])
|
rs1392358219
|
|
|
NM_001378030.1(CCDC78):c.717G>A (p.Leu239=)
|
|
|
|
NM_001378030.1(CCDC78):c.71G>A (p.Arg24Gln)
|
|
|
|
NM_001378030.1(CCDC78):c.726G>A (p.Glu242=)
|
rs1012692311
|
|
|
NM_001378030.1(CCDC78):c.732C>T (p.Val244=)
|
|
|
|
NM_001378030.1(CCDC78):c.736C>T (p.Arg246Trp)
|
rs749095737
|
|
|
NM_001378030.1(CCDC78):c.741G>A (p.Leu247=)
|
rs1211222717
|
|
|
NM_001378030.1(CCDC78):c.750C>T (p.Cys250=)
|
|
|
|
NM_001378030.1(CCDC78):c.752C>A (p.Ala251Asp)
|
|
|
|
NM_001378030.1(CCDC78):c.754_755inv (p.Trp252Gln)
|
|
|
|
NM_001378030.1(CCDC78):c.758A>G (p.Gln253Arg)
|
rs1438721597
|
|
|
NM_001378030.1(CCDC78):c.765+10G>A
|
|
|
|
NM_001378030.1(CCDC78):c.765+11C>G
|
|
|
|
NM_001378030.1(CCDC78):c.765+13G>A
|
|
|
|
NM_001378030.1(CCDC78):c.765+17C>T
|
|
|
|
NM_001378030.1(CCDC78):c.766-19C>A
|
|
|
|
NM_001378030.1(CCDC78):c.769C>T (p.His257Tyr)
|
rs1160240030
|
|
|
NM_001378030.1(CCDC78):c.771C>G (p.His257Gln)
|
rs747763912
|
|
|
NM_001378030.1(CCDC78):c.778G>A (p.Gly260Ser)
|
|
|
|
NM_001378030.1(CCDC78):c.780T>C (p.Gly260=)
|
rs1596618345
|
|
|
NM_001378030.1(CCDC78):c.782C>G (p.Ala261Gly)
|
rs1328091861
|
|
|
NM_001378030.1(CCDC78):c.791C>T (p.Ala264Val)
|
|
|
|
NM_001378030.1(CCDC78):c.798C>G (p.Ala266=)
|
|
|
|
NM_001378030.1(CCDC78):c.801C>T (p.Thr267=)
|
rs1596618143
|
|
|
NM_001378030.1(CCDC78):c.805del (p.Ala269fs)
|
|
|
|
NM_001378030.1(CCDC78):c.80A>G (p.Asp27Gly)
|
rs2040895994
|
|
|
NM_001378030.1(CCDC78):c.831T>G (p.Thr277=)
|
|
|
|
NM_001378030.1(CCDC78):c.838G>A (p.Asp280Asn)
|
|
|
|
NM_001378030.1(CCDC78):c.844C>G (p.Arg282Gly)
|
rs747752625
|
|
|
NM_001378030.1(CCDC78):c.846G>C (p.Arg282=)
|
rs2151554557
|
|
|
NM_001378030.1(CCDC78):c.852G>A (p.Ala284=)
|
|
|
|
NM_001378030.1(CCDC78):c.852G>C (p.Ala284=)
|
rs561702421
|
|
|
NM_001378030.1(CCDC78):c.860G>A (p.Ser287Asn)
|
|
|
|
NM_001378030.1(CCDC78):c.860G>C (p.Ser287Thr)
|
rs1688583528
|
|
|
NM_001378030.1(CCDC78):c.862C>A (p.Arg288Ser)
|
|
|
|
NM_001378030.1(CCDC78):c.893G>C (p.Ser298Thr)
|
rs770130604
|
|
|
NM_001378030.1(CCDC78):c.897C>A (p.Tyr299Ter)
|
rs1203607617
|
|
|
NM_001378030.1(CCDC78):c.898_900del (p.His300del)
|
rs771582682
|
|
|
NM_001378030.1(CCDC78):c.902A>G (p.Lys301Arg)
|
rs2040618422
|
|
|
NM_001378030.1(CCDC78):c.906G>A (p.Arg302=)
|
|
|
|
NM_001378030.1(CCDC78):c.913G>T (p.Asp305Tyr)
|
|
|
|
NM_001378030.1(CCDC78):c.922_923delinsGA (p.Arg308Asp)
|
|
|
|
NM_001378030.1(CCDC78):c.924C>A (p.Arg308=)
|
rs2040615574
|
|
|
NM_001378030.1(CCDC78):c.924C>T (p.Arg308=)
|
rs2040615574
|
|
|
NM_001378030.1(CCDC78):c.929A>G (p.His310Arg)
|
rs2040614811
|
|
|
NM_001378030.1(CCDC78):c.947C>T (p.Ala316Val)
|
rs2151553309
|
|
|
NM_001378030.1(CCDC78):c.94G>A (p.Ala32Thr)
|
|
|
|
NM_001378030.1(CCDC78):c.953+15del
|
rs751454157
|
|
|
NM_001378030.1(CCDC78):c.953+19G>A
|
|
|
|
NM_001378030.1(CCDC78):c.953+20del
|
|
|
|
NM_001378030.1(CCDC78):c.953+3G>A
|
rs2040612115
|
|
|
NM_001378030.1(CCDC78):c.953+4G>A
|
|
|
|
NM_001378030.1(CCDC78):c.954G>A (p.Arg318=)
|
rs2040592459
|
|
|
NM_001378030.1(CCDC78):c.955_956delinsAA (p.Ala319Lys)
|
rs2040592043
|
|
|
NM_001378030.1(CCDC78):c.958C>T (p.Pro320Ser)
|
|
|
|
NM_001378030.1(CCDC78):c.969C>A (p.Pro323=)
|
rs2151551775
|
|
|
NM_001378030.1(CCDC78):c.986T>C (p.Ile329Thr)
|
|
|
|
NM_001378030.1(CCDC78):c.991A>G (p.Ser331Gly)
|
|
|
|
NM_001378030.1(CCDC78):c.994T>C (p.Leu332=)
|
|
|
|
NM_001378030.1(CCDC78):c.999C>G (p.Asp333Glu)
|
rs1450643801
|
|
|
NM_001378030.1(CCDC78):c.9C>T (p.His3=)
|
rs1355024482
|
|
|
NM_001382567.1(STIM1):c.1003C>T (p.Leu335=)
|
rs202060449
|
|
|
NM_001382567.1(STIM1):c.100A>T (p.Thr34Ser)
|
rs1565091023
|
|
|
NM_001382567.1(STIM1):c.1010C>G (p.Ser337Cys)
|
rs1038392859
|
|
|
NM_001382567.1(STIM1):c.101C>G (p.Thr34Ser)
|
|
|
|
NM_001382567.1(STIM1):c.101C>T (p.Thr34Ile)
|
rs771348972
|
|
|
NM_001382567.1(STIM1):c.1031C>T (p.Pro344Leu)
|
rs2094469076
|
|
|
NM_001382567.1(STIM1):c.1036G>A (p.Ala346Thr)
|
|
|
|
NM_001382567.1(STIM1):c.1063C>G (p.His355Asp)
|
|
|
|
NM_001382567.1(STIM1):c.1063C>T (p.His355Tyr)
|
rs2094469160
|
|
|
NM_001382567.1(STIM1):c.1069G>T (p.Val357Leu)
|
rs918568638
|
|
|
NM_001382567.1(STIM1):c.1079_1080delinsGG (p.Gln360Arg)
|
rs2094469326
|
|
|
NM_001382567.1(STIM1):c.107C>G (p.Ser36Trp)
|
|
|
|
NM_001382567.1(STIM1):c.108G>C (p.Ser36=)
|
rs551284324
|
|
|
NM_001382567.1(STIM1):c.1119G>C (p.Leu373=)
|
|
|
|
NM_001382567.1(STIM1):c.1119G>T (p.Leu373=)
|
|
|
|
NM_001382567.1(STIM1):c.1122G>A (p.Leu374=)
|
|
|
|
NM_001382567.1(STIM1):c.1123G>C (p.Val375Leu)
|
|
|
|
NM_001382567.1(STIM1):c.112G>A (p.Ala38Thr)
|
|
|
|
NM_001382567.1(STIM1):c.1135G>C (p.Gly379Arg)
|
rs201447973
|
|
|
NM_001382567.1(STIM1):c.1137+11C>G
|
|
|
|
NM_001382567.1(STIM1):c.1137+13C>T
|
rs199507032
|
|
|
NM_001382567.1(STIM1):c.1137+14T>G
|
|
|
|
NM_001382567.1(STIM1):c.1137+18A>G
|
|
|
|
NM_001382567.1(STIM1):c.1138-11C>T
|
rs2094472695
|
|
|
NM_001382567.1(STIM1):c.1138-14C>A
|
|
|
|
NM_001382567.1(STIM1):c.1138-15del
|
rs761654472
|
|
|
NM_001382567.1(STIM1):c.1138-15dup
|
|
|
|
NM_001382567.1(STIM1):c.1138-16G>A
|
rs2133223879
|
|
|
NM_001382567.1(STIM1):c.1138-4G>A
|
rs1229330873
|
|
|
NM_001382567.1(STIM1):c.1138-8C>T
|
rs750360122
|
|
|
NM_001382567.1(STIM1):c.1138G>A (p.Ala380Thr)
|
|
|
|
NM_001382567.1(STIM1):c.1148T>C (p.Ile383Thr)
|
|
|
|
NM_001382567.1(STIM1):c.116A>G (p.Asn39Ser)
|
rs2135171193
|
|
|
NM_001382567.1(STIM1):c.1180T>C (p.Phe394Leu)
|
rs771694025
|
|
|
NM_001382567.1(STIM1):c.1184A>G (p.His395Arg)
|
rs1565170778
|
|
|
NM_001382567.1(STIM1):c.1189del (p.Ala397fs)
|
rs2133224258
|
|
|
NM_001382567.1(STIM1):c.1196G>A (p.Ser399Asn)
|
rs2094473055
|
|
|
NM_001382567.1(STIM1):c.1203C>G (p.Ser401=)
|
rs2133224307
|
|
|
NM_001382567.1(STIM1):c.1213G>A (p.Val405Ile)
|
|
|
|
NM_001382567.1(STIM1):c.1221T>C (p.His407=)
|
rs2133224417
|
|
|
NM_001382567.1(STIM1):c.1230A>G (p.Leu410=)
|
rs200232554
|
|
|
NM_001382567.1(STIM1):c.1232C>G (p.Thr411Arg)
|
|
|
|
NM_001382567.1(STIM1):c.1239-10_1239-9del
|
|
|
|
NM_001382567.1(STIM1):c.1239-17C>G
|
rs2094474498
|
|
|
NM_001382567.1(STIM1):c.1239-20T>A
|
rs2133225683
|
|
|
NM_001382567.1(STIM1):c.1239-4del
|
rs2133225817
|
|
|
NM_001382567.1(STIM1):c.1239-6C>T
|
rs2133225807
|
|
|
NM_001382567.1(STIM1):c.1239-8G>A
|
|
|
|
NM_001382567.1(STIM1):c.1239G>A (p.Lys413=)
|
|
|
|
NM_001382567.1(STIM1):c.1246C>T (p.Leu416=)
|
rs1198313077
|
|
|
NM_001382567.1(STIM1):c.124G>A (p.Glu42Lys)
|
rs2135171279
|
|
|
NM_001382567.1(STIM1):c.1250G>A (p.Ser417Asn)
|
rs1025014749
|
|
|
NM_001382567.1(STIM1):c.1271G>A (p.Arg424Gln)
|
|
|
|
NM_001382567.1(STIM1):c.1272G>A (p.Arg424=)
|
rs2133225953
|
|
|
NM_001382567.1(STIM1):c.1276C>T (p.Arg426Cys)
|
rs1057519505
|
|
|
NM_001382567.1(STIM1):c.127T>C (p.Ser43Pro)
|
rs947448351
|
|
|
NM_001382567.1(STIM1):c.1285C>T (p.Arg429Cys)
|
rs397514671
|
|
|
NM_001382567.1(STIM1):c.1296G>T (p.Gln432His)
|
rs2133226066
|
|
|
NM_001382567.1(STIM1):c.129C>T (p.Ser43=)
|
|
|
|
NM_001382567.1(STIM1):c.1300G>A (p.Glu434Lys)
|
|
|
|
NM_001382567.1(STIM1):c.1334C>T (p.Pro445Leu)
|
rs925534511
|
|
|
NM_001382567.1(STIM1):c.1342C>T (p.His448Tyr)
|
|
|
|
NM_001382567.1(STIM1):c.1347A>C (p.Ser449=)
|
rs765057580
|
|
|
NM_001382567.1(STIM1):c.134C>G (p.Ala45Gly)
|
|
|
|
NM_001382567.1(STIM1):c.1357G>T (p.Ala453Ser)
|
|
|
|
NM_001382567.1(STIM1):c.1367T>C (p.Ile456Thr)
|
rs371655991
|
|
|
NM_001382567.1(STIM1):c.1371C>A (p.Asp457Glu)
|
rs777537168
|
|
|
NM_001382567.1(STIM1):c.1371C>G (p.Asp457Glu)
|
rs777537168
|
|
|
NM_001382567.1(STIM1):c.1377C>G (p.Ser459Arg)
|
rs1565171050
|
|
|
NM_001382567.1(STIM1):c.1378T>G (p.Trp460Gly)
|
rs2094475504
|
|
|
NM_001382567.1(STIM1):c.139+13T>A
|
rs2135171514
|
|
|
NM_001382567.1(STIM1):c.139+4A>G
|
rs755753617
|
|
|
NM_001382567.1(STIM1):c.139+7C>A
|
rs2090371877
|
|
|
NM_001382567.1(STIM1):c.1396C>T (p.Pro466Ser)
|
rs2133226679
|
|
|
NM_001382567.1(STIM1):c.13G>A (p.Val5Ile)
|
rs150529970
|
|
|
NM_001382567.1(STIM1):c.140-16T>G
|
|
|
|
NM_001382567.1(STIM1):c.140-5C>T
|
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|
NM_001382567.1(STIM1):c.140-9C>T
|
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|
|
NM_001382567.1(STIM1):c.1400A>G (p.Asn467Ser)
|
|
|
|
NM_001382567.1(STIM1):c.1428C>T (p.Asp476=)
|
rs776633274
|
|
|
NM_001382567.1(STIM1):c.1436A>G (p.Asp479Gly)
|
|
|
|
NM_001382567.1(STIM1):c.143T>A (p.Phe48Tyr)
|
|
|
|
NM_001382567.1(STIM1):c.1452del (p.Ile484fs)
|
rs1565171115
|
|
|
NM_001382567.1(STIM1):c.1453G>A (p.Val485Met)
|
|
|
|
NM_001382567.1(STIM1):c.1457C>T (p.Ser486Phe)
|
rs2133227042
|
|
|
NM_001382567.1(STIM1):c.1459C>G (p.Pro487Ala)
|
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|
|
NM_001382567.1(STIM1):c.1459C>T (p.Pro487Ser)
|
rs2094476134
|
|
|
NM_001382567.1(STIM1):c.1461C>G (p.Pro487=)
|
rs751169800
|
|
|
NM_001382567.1(STIM1):c.1461C>T (p.Pro487=)
|
rs751169800
|
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|
NM_001382567.1(STIM1):c.1463T>A (p.Leu488Ter)
|
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|
|
NM_001382567.1(STIM1):c.146G>A (p.Cys49Tyr)
|
rs1590608659
|
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|
NM_001382567.1(STIM1):c.1474+16_1474+17delinsTG
|
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|
NM_001382567.1(STIM1):c.1474+17C>T
|
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|
NM_001382567.1(STIM1):c.1474+17_1474+18delinsGT
|
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|
NM_001382567.1(STIM1):c.1474+17del
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|
NM_001382567.1(STIM1):c.1474+20G>A
|
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|
NM_001382567.1(STIM1):c.1474+7G>A
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|
NM_001382567.1(STIM1):c.1568-10C>T
|
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|
NM_001382567.1(STIM1):c.1568-12T>C
|
rs2133240089
|
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|
NM_001382567.1(STIM1):c.1568-13A>T
|
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|
NM_001382567.1(STIM1):c.1568-1G>T
|
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|
NM_001382567.1(STIM1):c.1568-7C>G
|
rs1234433480
|
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|
NM_001382567.1(STIM1):c.1580A>G (p.Gln527Arg)
|
|
|
|
NM_001382567.1(STIM1):c.1581G>A (p.Gln527=)
|
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|
NM_001382567.1(STIM1):c.1583G>A (p.Ser528Asn)
|
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|
NM_001382567.1(STIM1):c.1586G>C (p.Ser529Thr)
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|
NM_001382567.1(STIM1):c.1592G>A (p.Arg531Gln)
|
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|
|
NM_001382567.1(STIM1):c.1593G>A (p.Arg531=)
|
rs765806444
|
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|
NM_001382567.1(STIM1):c.1594C>A (p.Gln532Lys)
|
rs753214223
|
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|
NM_001382567.1(STIM1):c.1598G>A (p.Arg533His)
|
rs555016539
|
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|
NM_001382567.1(STIM1):c.15C>T (p.Val5=)
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|
NM_001382567.1(STIM1):c.1601T>C (p.Leu534Pro)
|
rs1565172165
|
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|
NM_001382567.1(STIM1):c.1605G>A (p.Thr535=)
|
|
|
|
NM_001382567.1(STIM1):c.1609C>G (p.Pro537Ala)
|
rs1228842060
|
|
|
NM_001382567.1(STIM1):c.1609C>T (p.Pro537Ser)
|
|
|
|
NM_001382567.1(STIM1):c.160C>A (p.Pro54Thr)
|
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|
NM_001382567.1(STIM1):c.1612C>G (p.Gln538Glu)
|
rs2133240605
|
|
|
NM_001382567.1(STIM1):c.1613A>G (p.Gln538Arg)
|
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|
|
NM_001382567.1(STIM1):c.1620C>G (p.Gly540=)
|
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|
NM_001382567.1(STIM1):c.1620C>T (p.Gly540=)
|
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|
NM_001382567.1(STIM1):c.1628C>T (p.Ser543Phe)
|
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|
NM_001382567.1(STIM1):c.1632G>C (p.Gln544His)
|
rs2094494375
|
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|
NM_001382567.1(STIM1):c.1634+13C>A
|
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|
NM_001382567.1(STIM1):c.1634+1G>T
|
rs1427379864
|
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|
NM_001382567.1(STIM1):c.1635-20C>G
|
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|
|
NM_001382567.1(STIM1):c.163_164del (p.Leu55fs)
|
rs2135736277
|
|
|
NM_001382567.1(STIM1):c.1642A>G (p.Thr548Ala)
|
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|
|
NM_001382567.1(STIM1):c.1646A>C (p.His549Pro)
|
rs751432488
|
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|
NM_001382567.1(STIM1):c.1649C>A (p.Ser550Tyr)
|
rs1590703131
|
|
|
NM_001382567.1(STIM1):c.1650C>T (p.Ser550=)
|
|
|
|
NM_001382567.1(STIM1):c.1673T>A (p.Met558Lys)
|
|
|
|
NM_001382567.1(STIM1):c.1675A>G (p.Ser559Gly)
|
rs2094523397
|
|
|
NM_001382567.1(STIM1):c.1688G>C (p.Arg563Pro)
|
rs771442242
|
|
|
NM_001382567.1(STIM1):c.1694C>T (p.Ala565Val)
|
rs1382628661
|
|
|
NM_001382567.1(STIM1):c.1703C>G (p.Pro568Arg)
|
|
|
|
NM_001382567.1(STIM1):c.1703CTC[1] (p.Pro569del)
|
rs754674804
|
|
|
NM_001382567.1(STIM1):c.1712T>G (p.Met571Arg)
|
|
|
|
NM_001382567.1(STIM1):c.1714A>G (p.Ser572Gly)
|
|
|
|
NM_001382567.1(STIM1):c.1715G>A (p.Ser572Asn)
|
|
|
|
NM_001382567.1(STIM1):c.1717C>A (p.Arg573Ser)
|
|
|
|
NM_001382567.1(STIM1):c.1717C>T (p.Arg573Cys)
|
rs370846246
|
|
|
NM_001382567.1(STIM1):c.1722T>C (p.Ala574=)
|
rs1007050130
|
|
|
NM_001382567.1(STIM1):c.1737C>A (p.Leu579=)
|
rs2133263867
|
|
|
NM_001382567.1(STIM1):c.1738A>G (p.Asn580Asp)
|
rs755851829
|
|
|
NM_001382567.1(STIM1):c.1744A>G (p.Met582Val)
|
|
|
|
NM_001382567.1(STIM1):c.1745T>C (p.Met582Thr)
|
|
|
|
NM_001382567.1(STIM1):c.1749T>G (p.Thr583=)
|
|
|
|
NM_001382567.1(STIM1):c.1757G>T (p.Gly586Val)
|
rs200525396
|
|
|
NM_001382567.1(STIM1):c.1762C>A (p.His588Asn)
|
|
|
|
NM_001382567.1(STIM1):c.1767G>A (p.Arg589=)
|
|
|
|
NM_001382567.1(STIM1):c.1775A>G (p.Glu592Gly)
|
rs2133264174
|
|
|
NM_001382567.1(STIM1):c.1779G>A (p.Gly593=)
|
|
|
|
NM_001382567.1(STIM1):c.1779G>T (p.Gly593=)
|
|
|
|
NM_001382567.1(STIM1):c.1785C>T (p.His595=)
|
rs1590703370
|
|
|
NM_001382567.1(STIM1):c.1790G>A (p.Gly597Glu)
|
|
|
|
NM_001382567.1(STIM1):c.1791G>T (p.Gly597=)
|
|
|
|
NM_001382567.1(STIM1):c.1793C>A (p.Ser598Tyr)
|
rs201520428
|
|
|
NM_001382567.1(STIM1):c.1798G>T (p.Val600Leu)
|
rs527880533
|
|
|
NM_001382567.1(STIM1):c.1805A>G (p.Lys602Arg)
|
rs1554972161
|
|
|
NM_001382567.1(STIM1):c.1809G>A (p.Leu603=)
|
|
|
|
NM_001382567.1(STIM1):c.1812T>C (p.Pro604=)
|
rs200693717
|
|
|
NM_001382567.1(STIM1):c.1818C>A (p.Ser606Arg)
|
|
|
|
NM_001382567.1(STIM1):c.1818_1819delinsTA (p.Pro607Thr)
|
|
|
|
NM_001382567.1(STIM1):c.1820C>T (p.Pro607Leu)
|
rs2094524774
|
|
|
NM_001382567.1(STIM1):c.1827G>C (p.Leu609=)
|
|
|
|
NM_001382567.1(STIM1):c.1837G>A (p.Ala613Thr)
|
rs2133264567
|
|
|
NM_001382567.1(STIM1):c.1838C>T (p.Ala613Val)
|
rs1590703419
|
|
|
NM_001382567.1(STIM1):c.1846G>A (p.Ala616Thr)
|
|
|
|
NM_001382567.1(STIM1):c.1850T>C (p.Leu617Pro)
|
|
|
|
NM_001382567.1(STIM1):c.1855C>A (p.His619Asn)
|
|
|
|
NM_001382567.1(STIM1):c.1855C>T (p.His619Tyr)
|
|
|
|
NM_001382567.1(STIM1):c.1859G>C (p.Gly620Ala)
|
rs2094525006
|
|
|
NM_001382567.1(STIM1):c.1870G>T (p.Ala624Ser)
|
|
|
|
NM_001382567.1(STIM1):c.1872C>T (p.Ala624=)
|
|
|
|
NM_001382567.1(STIM1):c.1879C>T (p.Leu627=)
|
|
|
|
NM_001382567.1(STIM1):c.1882A>G (p.Met628Val)
|
|
|
|
NM_001382567.1(STIM1):c.1883T>C (p.Met628Thr)
|
|
|
|
NM_001382567.1(STIM1):c.1885G>A (p.Glu629Lys)
|
rs2094525182
|
|
|
NM_001382567.1(STIM1):c.1887G>C (p.Glu629Asp)
|
rs199874116
|
|
|
NM_001382567.1(STIM1):c.1895C>T (p.Pro632Leu)
|
|
|
|
NM_001382567.1(STIM1):c.1899A>G (p.Ser633=)
|
|
|
|
NM_001382567.1(STIM1):c.1900G>T (p.Ala634Ser)
|
|
|
|
NM_001382567.1(STIM1):c.1909G>C (p.Gly637Arg)
|
rs771983048
|
|
|
NM_001382567.1(STIM1):c.1913G>C (p.Gly638Ala)
|
|
|
|
NM_001382567.1(STIM1):c.192C>T (p.Ser64=)
|
rs200345567
|
|
|
NM_001382567.1(STIM1):c.1931C>T (p.Ser644Phe)
|
|
|
|
NM_001382567.1(STIM1):c.1943A>T (p.His648Leu)
|
rs2133265240
|
|
|
NM_001382567.1(STIM1):c.1947C>A (p.Ser649Arg)
|
|
|
|
NM_001382567.1(STIM1):c.1947C>T (p.Ser649=)
|
rs1590703531
|
|
|
NM_001382567.1(STIM1):c.195C>T (p.Phe65=)
|
|
|
|
NM_001382567.1(STIM1):c.1969A>G (p.Thr657Ala)
|
rs2094525733
|
|
|
NM_001382567.1(STIM1):c.1970C>T (p.Thr657Ile)
|
|
|
|
NM_001382567.1(STIM1):c.1980A>G (p.Pro660=)
|
|
|
|
NM_001382567.1(STIM1):c.1981G>C (p.Val661Leu)
|
rs1590703566
|
|
|
NM_001382567.1(STIM1):c.1982T>C (p.Val661Ala)
|
|
|
|
NM_001382567.1(STIM1):c.1991G>A (p.Ser664Asn)
|
|
|
|
NM_001382567.1(STIM1):c.1999C>A (p.Leu667Met)
|
rs2094526007
|
|
|
NM_001382567.1(STIM1):c.1999C>T (p.Leu667=)
|
|
|
|
NM_001382567.1(STIM1):c.199G>A (p.Ala67Thr)
|
|
|
|
NM_001382567.1(STIM1):c.2012G>T (p.Arg671Leu)
|
rs769001716
|
|
|
NM_001382567.1(STIM1):c.2013A>G (p.Arg671=)
|
|
|
|
NM_001382567.1(STIM1):c.2020C>T (p.Arg674Cys)
|
rs779108452
|
|
|
NM_001382567.1(STIM1):c.2024T>C (p.Ile675Thr)
|
rs2133265767
|
|
|
NM_001382567.1(STIM1):c.2034G>A (p.Leu678=)
|
rs1388089736
|
|
|
NM_001382567.1(STIM1):c.2035G>A (p.Ala679Thr)
|
rs1447309539
|
|
|
NM_001382567.1(STIM1):c.2042A>G (p.Lys681Arg)
|
|
|
|
NM_001382567.1(STIM1):c.2047G>T (p.Ala683Ser)
|
rs201992816
|
|
|
NM_001382567.1(STIM1):c.2049T>C (p.Ala683=)
|
|
|
|
NM_001382567.1(STIM1):c.2054C>T (p.Ala685Val)
|
rs1590703662
|
|
|
NM_001382567.1(STIM1):c.2058GGA[1] (p.Glu687del)
|
|
|
|
NM_001382567.1(STIM1):c.2063A>C (p.Asp688Ala)
|
|
|
|
NM_001382567.1(STIM1):c.2064T>C (p.Asp688=)
|
|
|
|
NM_001382567.1(STIM1):c.2065A>G (p.Asn689Asp)
|
|
|
|
NM_001382567.1(STIM1):c.2068G>A (p.Gly690Ser)
|
|
|
|
NM_001382567.1(STIM1):c.2069G>A (p.Gly690Asp)
|
|
|
|
NM_001382567.1(STIM1):c.206G>A (p.Arg69His)
|
|
|
|
NM_001382567.1(STIM1):c.2074A>G (p.Ile692Val)
|
|
|
|
NM_001382567.1(STIM1):c.2074A>T (p.Ile692Phe)
|
|
|
|
NM_001382567.1(STIM1):c.2075T>C (p.Ile692Thr)
|
|
|
|
NM_001382567.1(STIM1):c.2079C>T (p.Gly693=)
|
rs147912041
|
|
|
NM_001382567.1(STIM1):c.2092T>G (p.Ser698Ala)
|
|
|
|
NM_001382567.1(STIM1):c.2098C>T (p.Pro700Ser)
|
|
|
|
NM_001382567.1(STIM1):c.20T>C (p.Leu7Pro)
|
|
|
|
NM_001382567.1(STIM1):c.2100A>G (p.Pro700=)
|
rs754273677
|
|
|
NM_001382567.1(STIM1):c.2105G>A (p.Arg702Gln)
|
rs779204802
|
|
|
NM_001382567.1(STIM1):c.2108A>G (p.Lys703Arg)
|
|
|
|
NM_001382567.1(STIM1):c.2109G>T (p.Lys703Asn)
|
|
|
|
NM_001382567.1(STIM1):c.2123A>G (p.Lys708Arg)
|
rs2133266402
|
|
|
NM_001382567.1(STIM1):c.2130T>C (p.Phe710=)
|
rs1554972256
|
|
|
NM_001382567.1(STIM1):c.2131AAG[1] (p.Lys712del)
|
rs2094526893
|
|
|
NM_001382567.1(STIM1):c.2142T>A (p.Leu714=)
|
rs199935070
|
|
|
NM_001382567.1(STIM1):c.2143AAG[1] (p.Lys716del)
|
|
|
|
NM_001382567.1(STIM1):c.2149T>C (p.Ter717Gln)
|
|
|
|
NM_001382567.1(STIM1):c.218A>G (p.Lys73Arg)
|
|
|
|
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr)
|
rs748277951
|
|
|
NM_001382567.1(STIM1):c.240T>C (p.Asn80=)
|
|
|
|
NM_001382567.1(STIM1):c.246T>C (p.Asp82=)
|
|
|
|
NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly)
|
rs2135736648
|
|
|
NM_001382567.1(STIM1):c.270+11C>T
|
|
|
|
NM_001382567.1(STIM1):c.270+12C>T
|
|
|
|
NM_001382567.1(STIM1):c.270+19C>T
|
|
|
|
NM_001382567.1(STIM1):c.270+2T>C
|
|
|
|
NM_001382567.1(STIM1):c.270+5G>T
|
|
|
|
NM_001382567.1(STIM1):c.270G>C (p.Glu90Asp)
|
|
|
|
NM_001382567.1(STIM1):c.271-11T>C
|
|
|
|
NM_001382567.1(STIM1):c.271-14C>G
|
rs2136018670
|
|
|
NM_001382567.1(STIM1):c.271-19G>C
|
|
|
|
NM_001382567.1(STIM1):c.271-3034_271-3023del
|
|
|
|
NM_001382567.1(STIM1):c.271-3C>T
|
rs561797617
|
|
|
NM_001382567.1(STIM1):c.272T>A (p.Phe91Tyr)
|
|
|
|
NM_001382567.1(STIM1):c.295C>G (p.His99Asp)
|
rs1440304974
|
|
|
NM_001382567.1(STIM1):c.296A>G (p.His99Arg)
|
|
|
|
NM_001382567.1(STIM1):c.297T>C (p.His99=)
|
|
|
|
NM_001382567.1(STIM1):c.301C>G (p.Pro101Ala)
|
rs2136018813
|
|
|
NM_001382567.1(STIM1):c.304A>G (p.Thr102Ala)
|
rs2093978275
|
|
|
NM_001382567.1(STIM1):c.313C>A (p.His105Asn)
|
|
|
|
NM_001382567.1(STIM1):c.313C>G (p.His105Asp)
|
|
|
|
NM_001382567.1(STIM1):c.314A>C (p.His105Pro)
|
|
|
|
NM_001382567.1(STIM1):c.317G>A (p.Ser106Asn)
|
|
|
|
NM_001382567.1(STIM1):c.326A>G (p.His109Arg)
|
rs397514677
|
|
|
NM_001382567.1(STIM1):c.333G>A (p.Glu111=)
|
|
|
|
NM_001382567.1(STIM1):c.339G>A (p.Lys113=)
|
|
|
|
NM_001382567.1(STIM1):c.342C>T (p.Leu114=)
|
|
|
|
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe)
|
rs527236030
|
|
|
NM_001382567.1(STIM1):c.345C>T (p.Ile115=)
|
rs770736310
|
|
|
NM_001382567.1(STIM1):c.349G>T (p.Val117Leu)
|
|
|
|
NM_001382567.1(STIM1):c.354G>A (p.Glu118=)
|
|
|
|
NM_001382567.1(STIM1):c.360G>A (p.Leu120=)
|
|
|
|
NM_001382567.1(STIM1):c.375G>A (p.Lys125=)
|
|
|
|
NM_001382567.1(STIM1):c.381A>G (p.Ser127=)
|
|
|
|
NM_001382567.1(STIM1):c.383A>T (p.Glu128Val)
|
rs2136019150
|
|
|
NM_001382567.1(STIM1):c.385+20T>G
|
rs2136019322
|
|
|
NM_001382567.1(STIM1):c.385+7G>T
|
|
|
|
NM_001382567.1(STIM1):c.386-17C>G
|
|
|
|
NM_001382567.1(STIM1):c.386-18G>T
|
|
|
|
NM_001382567.1(STIM1):c.386-1G>A
|
rs2133083597
|
|
|
NM_001382567.1(STIM1):c.388T>C (p.Tyr130His)
|
|
|
|
NM_001382567.1(STIM1):c.398C>T (p.Thr133Ile)
|
rs1590678408
|
|
|
NM_001382567.1(STIM1):c.406G>A (p.Glu136Lys)
|
rs1590678420
|
|
|
NM_001382567.1(STIM1):c.408G>A (p.Glu136=)
|
rs200648767
|
|
|
NM_001382567.1(STIM1):c.409G>A (p.Val137Met)
|
|
|
|
NM_001382567.1(STIM1):c.429A>G (p.Thr143=)
|
rs2094282235
|
|
|
NM_001382567.1(STIM1):c.438G>A (p.Glu146=)
|
|
|
|
NM_001382567.1(STIM1):c.45CCT[1] (p.Leu17del)
|
|
|
|
NM_001382567.1(STIM1):c.464G>A (p.Arg155Gln)
|
rs771484089
|
|
|
NM_001382567.1(STIM1):c.469C>T (p.Leu157=)
|
rs1554968984
|
|
|
NM_001382567.1(STIM1):c.46C>T (p.Leu16Phe)
|
|
|
|
NM_001382567.1(STIM1):c.473A>C (p.Gln158Pro)
|
rs899854132
|
|
|
NM_001382567.1(STIM1):c.482G>A (p.Gly161Asp)
|
rs2133084204
|
|
|
NM_001382567.1(STIM1):c.485A>G (p.His162Arg)
|
|
|
|
NM_001382567.1(STIM1):c.490A>G (p.Met164Val)
|
rs776121110
|
|
|
NM_001382567.1(STIM1):c.495A>C (p.Pro165=)
|
|
|
|
NM_001382567.1(STIM1):c.497+16G>A
|
|
|
|
NM_001382567.1(STIM1):c.497+17G>A
|
rs200086415
|
|
|
NM_001382567.1(STIM1):c.497+17G>T
|
|
|
|
NM_001382567.1(STIM1):c.498-14C>G
|
|
|
|
NM_001382567.1(STIM1):c.498-15T>C
|
|
|
|
NM_001382567.1(STIM1):c.498-16C>G
|
|
|
|
NM_001382567.1(STIM1):c.498-18T>A
|
|
|
|
NM_001382567.1(STIM1):c.498-6C>T
|
|
|
|
NM_001382567.1(STIM1):c.498G>A (p.Arg166=)
|
|
|
|
NM_001382567.1(STIM1):c.4G>A (p.Asp2Asn)
|
rs2090364498
|
|
|
NM_001382567.1(STIM1):c.50T>G (p.Leu17Arg)
|
rs2090367397
|
|
|
NM_001382567.1(STIM1):c.513C>T (p.Asn171=)
|
rs2133104522
|
|
|
NM_001382567.1(STIM1):c.515C>T (p.Thr172Ile)
|
rs200912784
|
|
|
NM_001382567.1(STIM1):c.516C>G (p.Thr172=)
|
rs2133104553
|
|
|
NM_001382567.1(STIM1):c.518C>T (p.Thr173Ile)
|
|
|
|
NM_001382567.1(STIM1):c.519C>A (p.Thr173=)
|
rs768915274
|
|
|
NM_001382567.1(STIM1):c.530C>T (p.Thr177Ile)
|
|
|
|
NM_001382567.1(STIM1):c.532G>T (p.Val178Leu)
|
rs1351131329
|
|
|
NM_001382567.1(STIM1):c.537G>A (p.Leu179=)
|
|
|
|
NM_001382567.1(STIM1):c.541A>G (p.Met181Val)
|
rs2094314118
|
|
|
NM_001382567.1(STIM1):c.546A>C (p.Thr182=)
|
rs2133104739
|
|
|
NM_001382567.1(STIM1):c.549C>T (p.Asp183=)
|
rs1590681707
|
|
|
NM_001382567.1(STIM1):c.54C>T (p.His18=)
|
rs2135170406
|
|
|
NM_001382567.1(STIM1):c.550C>T (p.Arg184Trp)
|
rs368391164
|
|
|
NM_001382567.1(STIM1):c.57G>C (p.Gln19His)
|
rs1554949765
|
|
|
NM_001382567.1(STIM1):c.58G>A (p.Gly20Ser)
|
rs2135170451
|
|
|
NM_001382567.1(STIM1):c.610C>T (p.Leu204Phe)
|
rs1375399301
|
|
|
NM_001382567.1(STIM1):c.612C>T (p.Leu204=)
|
rs2094314742
|
|
|
NM_001382567.1(STIM1):c.614-11CT[2]
|
|
|
|
NM_001382567.1(STIM1):c.614-20T>C
|
|
|
|
NM_001382567.1(STIM1):c.614-20T>G
|
|
|
|
NM_001382567.1(STIM1):c.614-4G>T
|
rs2133161164
|
|
|
NM_001382567.1(STIM1):c.614T>C (p.Leu205Ser)
|
rs2133161173
|
|
|
NM_001382567.1(STIM1):c.620G>A (p.Arg207His)
|
|
|
|
NM_001382567.1(STIM1):c.622C>T (p.His208Tyr)
|
rs2133161238
|
|
|
NM_001382567.1(STIM1):c.623A>G (p.His208Arg)
|
rs2094394104
|
|
|
NM_001382567.1(STIM1):c.630C>G (p.His210Gln)
|
|
|
|
NM_001382567.1(STIM1):c.630C>T (p.His210=)
|
rs199743104
|
|
|
NM_001382567.1(STIM1):c.642C>G (p.Phe214Leu)
|
|
|
|
NM_001382567.1(STIM1):c.64A>G (p.Ser22Gly)
|
|
|
|
NM_001382567.1(STIM1):c.658A>G (p.Ile220Val)
|
rs2094394322
|
|
|
NM_001382567.1(STIM1):c.660C>A (p.Ile220=)
|
rs200982503
|
|
|
NM_001382567.1(STIM1):c.661G>A (p.Val221Ile)
|
|
|
|
NM_001382567.1(STIM1):c.673G>T (p.Gly225Cys)
|
|
|
|
NM_001382567.1(STIM1):c.67C>T (p.Leu23Phe)
|
|
|
|
NM_001382567.1(STIM1):c.684G>T (p.Trp228Cys)
|
|
|
|
NM_001382567.1(STIM1):c.68T>A (p.Leu23His)
|
|
|
|
NM_001382567.1(STIM1):c.692A>T (p.Tyr231Phe)
|
|
|
|
NM_001382567.1(STIM1):c.693T>C (p.Tyr231=)
|
|
|
|
NM_001382567.1(STIM1):c.699G>A (p.Gln233=)
|
|
|
|
NM_001382567.1(STIM1):c.69C>T (p.Leu23=)
|
rs779453226
|
|
|
NM_001382567.1(STIM1):c.700_707del (p.Asn234fs)
|
rs1590688717
|
|
|
NM_001382567.1(STIM1):c.702C>T (p.Asn234=)
|
|
|
|
NM_001382567.1(STIM1):c.703C>G (p.Arg235Gly)
|
|
|
|
NM_001382567.1(STIM1):c.710C>T (p.Ser237Phe)
|
rs751364519
|
|
|
NM_001382567.1(STIM1):c.718C>T (p.His240Tyr)
|
|
|
|
NM_001382567.1(STIM1):c.722T>C (p.Met241Thr)
|
rs1057013806
|
|
|
NM_001382567.1(STIM1):c.725AGA[1] (p.Lys243del)
|
rs1424195254
|
|
|
NM_001382567.1(STIM1):c.729G>A (p.Lys243=)
|
|
|
|
NM_001382567.1(STIM1):c.731TGA[1] (p.Met245del)
|
rs2094394895
|
|
|
NM_001382567.1(STIM1):c.733A>C (p.Met245Leu)
|
rs755714206
|
|
|
NM_001382567.1(STIM1):c.738G>C (p.Lys246Asn)
|
rs536528954
|
|
|
NM_001382567.1(STIM1):c.746A>G (p.Glu249Gly)
|
|
|
|
NM_001382567.1(STIM1):c.747G>T (p.Glu249Asp)
|
|
|
|
NM_001382567.1(STIM1):c.750G>T (p.Gly250=)
|
|
|
|
NM_001382567.1(STIM1):c.752T>C (p.Leu251Ser)
|
rs2094395092
|
|
|
NM_001382567.1(STIM1):c.764A>G (p.Glu255Gly)
|
|
|
|
NM_001382567.1(STIM1):c.776A>G (p.His259Arg)
|
rs1359363776
|
|
|
NM_001382567.1(STIM1):c.791+15T>G
|
|
|
|
NM_001382567.1(STIM1):c.791+7C>T
|
rs2094395337
|
|
|
NM_001382567.1(STIM1):c.792-1G>A
|
|
|
|
NM_001382567.1(STIM1):c.792-3C>A
|
rs201348785
|
|
|
NM_001382567.1(STIM1):c.792-3C>G
|
rs201348785
|
|
|
NM_001382567.1(STIM1):c.792-3C>T
|
|
|
|
NM_001382567.1(STIM1):c.792-3del
|
rs764247879
|
|
|
NM_001382567.1(STIM1):c.792-3dup
|
rs764247879
|
|
|
NM_001382567.1(STIM1):c.792-4C>A
|
rs200996329
|
|
|
NM_001382567.1(STIM1):c.792-4C>G
|
rs200996329
|
|
|
NM_001382567.1(STIM1):c.792-4C>T
|
rs200996329
|
|
|
NM_001382567.1(STIM1):c.792-5C>G
|
|
|
|
NM_001382567.1(STIM1):c.792-8C>A
|
rs201395930
|
|
|
NM_001382567.1(STIM1):c.792-9C>A
|
rs200264068
|
|
|
NM_001382567.1(STIM1):c.792-9C>T
|
|
|
|
NM_001382567.1(STIM1):c.796C>T (p.His266Tyr)
|
rs2133185569
|
|
|
NM_001382567.1(STIM1):c.79C>G (p.His27Asp)
|
|
|
|
NM_001382567.1(STIM1):c.7G>A (p.Val3Ile)
|
rs1060499904
|
|
|
NM_001382567.1(STIM1):c.801G>A (p.Lys267=)
|
|
|
|
NM_001382567.1(STIM1):c.803C>T (p.Ala268Val)
|
rs2094425773
|
|
|
NM_001382567.1(STIM1):c.81C>A (p.His27Gln)
|
rs1393963653
|
|
|
NM_001382567.1(STIM1):c.831G>T (p.Val277=)
|
|
|
|
NM_001382567.1(STIM1):c.840C>G (p.Val280=)
|
rs2133185849
|
|
|
NM_001382567.1(STIM1):c.843T>C (p.His281=)
|
rs760049621
|
|
|
NM_001382567.1(STIM1):c.846G>C (p.Leu282=)
|
|
|
|
NM_001382567.1(STIM1):c.859C>A (p.Arg287Ser)
|
rs1034949340
|
|
|
NM_001382567.1(STIM1):c.859C>T (p.Arg287Cys)
|
rs1034949340
|
|
|
NM_001382567.1(STIM1):c.860G>A (p.Arg287His)
|
rs1565168009
|
|
|
NM_001382567.1(STIM1):c.863A>C (p.Asp288Ala)
|
rs900508637
|
|
|
NM_001382567.1(STIM1):c.869_887del (p.Ile290fs)
|
rs751733169
|
|
|
NM_001382567.1(STIM1):c.870C>T (p.Ile290=)
|
|
|
|
NM_001382567.1(STIM1):c.872A>C (p.Asn291Thr)
|
rs138848040
|
|
|
NM_001382567.1(STIM1):c.902A>G (p.Lys301Arg)
|
|
|
|
NM_001382567.1(STIM1):c.910C>T (p.Arg304Trp)
|
rs483352867
|
|
|
NM_001382567.1(STIM1):c.919A>G (p.Thr307Ala)
|
|
|
|
NM_001382567.1(STIM1):c.921T>C (p.Thr307=)
|
rs2133186424
|
|
|
NM_001382567.1(STIM1):c.92C>T (p.Ala31Val)
|
|
|
|
NM_001382567.1(STIM1):c.932G>A (p.Arg311Gln)
|
|
|
|
NM_001382567.1(STIM1):c.938G>A (p.Arg313His)
|
rs776331076
|
|
|
NM_001382567.1(STIM1):c.952GAG[2] (p.Glu320del)
|
rs2133186642
|
|
|
NM_001382567.1(STIM1):c.954G>A (p.Glu318=)
|
|
|
|
NM_001382567.1(STIM1):c.969+7G>T
|
|
|
|
NM_001382567.1(STIM1):c.969+9G>A
|
|
|
|
NM_001382567.1(STIM1):c.970-19C>T
|
|
|
|
NM_001382567.1(STIM1):c.970-6G>T
|
|
|
|
NM_001382567.1(STIM1):c.970G>A (p.Val324Ile)
|
|
|
|
NM_001382567.1(STIM1):c.974G>A (p.Arg325Gln)
|
|
|
|
NM_001382567.1(STIM1):c.974G>T (p.Arg325Leu)
|
rs746960459
|
|
|
NM_001382567.1(STIM1):c.982T>C (p.Leu328=)
|
rs2133220776
|
|
|
NM_001382567.1(STIM1):c.98G>A (p.Gly33Glu)
|
|
|
|
NM_001458.5(FLNC):c.1000C>A (p.Arg334Ser)
|
rs372497581
|
|
|
NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys)
|
rs372497581
|
|
|
NM_001458.5(FLNC):c.1003A>C (p.Thr335Pro)
|
|
|
|
NM_001458.5(FLNC):c.1003A>G (p.Thr335Ala)
|
|
|
|
NM_001458.5(FLNC):c.1007A>G (p.Tyr336Cys)
|
rs748723761
|
|
|
NM_001458.5(FLNC):c.100T>G (p.Trp34Gly)
|
|
|
|
NM_001458.5(FLNC):c.1012G>A (p.Val338Ile)
|
rs2128934331
|
|
|
NM_001458.5(FLNC):c.1014C>T (p.Val338=)
|
|
|
|
NM_001458.5(FLNC):c.1023G>T (p.Val341=)
|
|
|
|
NM_001458.5(FLNC):c.1026C>A (p.Pro342=)
|
|
|
|
NM_001458.5(FLNC):c.1027A>T (p.Lys343Ter)
|
rs745495679
|
|
|
NM_001458.5(FLNC):c.102G>A (p.Trp34Ter)
|
rs2128932126
|
|
|
NM_001458.5(FLNC):c.1035T>C (p.Ala345=)
|
rs2128934337
|
|
|
NM_001458.5(FLNC):c.1040T>C (p.Leu347Ser)
|
rs1554397631
|
|
|
NM_001458.5(FLNC):c.1042C>T (p.His348Tyr)
|
rs2128934341
|
|
|
NM_001458.5(FLNC):c.1043A>C (p.His348Pro)
|
|
|
|
NM_001458.5(FLNC):c.1047+11C>G
|
|
|
|
NM_001458.5(FLNC):c.1047+12T>C
|
|
|
|
NM_001458.5(FLNC):c.1047+16C>G
|
rs961893897
|
|
|
NM_001458.5(FLNC):c.1047+16C>T
|
|
|
|
NM_001458.5(FLNC):c.1047+17C>A
|
rs1477732116
|
|
|
NM_001458.5(FLNC):c.1047+17C>T
|
rs1477732116
|
|
|
NM_001458.5(FLNC):c.1047+19C>G
|
|
|
|
NM_001458.5(FLNC):c.1047+1G>A
|
rs762493013
|
|
|
NM_001458.5(FLNC):c.1047+1G>T
|
rs762493013
|
|
|
NM_001458.5(FLNC):c.1047+20C>A
|
|
|
|
NM_001458.5(FLNC):c.1047+21dup
|
|
|
|
NM_001458.5(FLNC):c.1047+3A>G
|
|
|
|
NM_001458.5(FLNC):c.1047+8C>T
|
|
|
|
NM_001458.5(FLNC):c.1047+9C>G
|
|
|
|
NM_001458.5(FLNC):c.1047+9C>T
|
|
|
|
NM_001458.5(FLNC):c.1048-9G>T
|
rs897884333
|
|
|
NM_001458.5(FLNC):c.1049T>C (p.Val350Ala)
|
|
|
|
NM_001458.5(FLNC):c.1055_1056del (p.Val352fs)
|
|
|
|
NM_001458.5(FLNC):c.1059C>T (p.Leu353=)
|
rs760418462
|
|
|
NM_001458.5(FLNC):c.1064C>T (p.Ala355Val)
|
rs1231559702
|
|
|
NM_001458.5(FLNC):c.1066G>A (p.Gly356Ser)
|
rs1808183705
|
|
|
NM_001458.5(FLNC):c.1067G>A (p.Gly356Asp)
|
|
|
|
NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter)
|
rs2128934390
|
|
|
NM_001458.5(FLNC):c.1076T>C (p.Ile359Thr)
|
|
|
|
NM_001458.5(FLNC):c.1087C>A (p.Pro363Thr)
|
rs2128934398
|
|
|
NM_001458.5(FLNC):c.1087C>T (p.Pro363Ser)
|
|
|
|
NM_001458.5(FLNC):c.108G>A (p.Lys36=)
|
rs1807852313
|
|
|
NM_001458.5(FLNC):c.1092dup (p.Glu365Ter)
|
|
|
|
NM_001458.5(FLNC):c.109A>G (p.Ile37Val)
|
|
|
|
NM_001458.5(FLNC):c.1101C>T (p.Asn367=)
|
|
|
|
NM_001458.5(FLNC):c.1102G>C (p.Val368Leu)
|
rs781718076
|
|
|
NM_001458.5(FLNC):c.1104G>C (p.Val368=)
|
|
|
|
NM_001458.5(FLNC):c.1106G>C (p.Gly369Ala)
|
rs754733061
|
|
|
NM_001458.5(FLNC):c.1106G>T (p.Gly369Val)
|
|
|
|
NM_001458.5(FLNC):c.110T>G (p.Ile37Ser)
|
|
|
|
NM_001458.5(FLNC):c.1111dup (p.Ala371fs)
|
rs2128934407
|
|
|
NM_001458.5(FLNC):c.1116G>T (p.Leu372=)
|
|
|
|
NM_001458.5(FLNC):c.1120G>A (p.Asp374Asn)
|
|
|
|
NM_001458.5(FLNC):c.1123G>A (p.Ala375Thr)
|
rs747623981
|
|
|
NM_001458.5(FLNC):c.1129A>G (p.Lys377Glu)
|
rs1035933787
|
|
|
NM_001458.5(FLNC):c.1131G>C (p.Lys377Asn)
|
rs1396483415
|
|
|
NM_001458.5(FLNC):c.1135T>G (p.Ser379Ala)
|
rs746992457
|
|
|
NM_001458.5(FLNC):c.1136C>G (p.Ser379Ter)
|
|
|
|
NM_001458.5(FLNC):c.1141C>G (p.Arg381Gly)
|
rs770692923
|
|
|
NM_001458.5(FLNC):c.1156G>C (p.Glu386Gln)
|
rs1204536261
|
|
|
NM_001458.5(FLNC):c.1156G>T (p.Glu386Ter)
|
|
|
|
NM_001458.5(FLNC):c.1159C>T (p.Pro387Ser)
|
|
|
|
NM_001458.5(FLNC):c.1160C>G (p.Pro387Arg)
|
rs765434369
|
|
|
NM_001458.5(FLNC):c.1161T>G (p.Pro387=)
|
|
|
|
NM_001458.5(FLNC):c.1162G>C (p.Val388Leu)
|
rs1484540724
|
|
|
NM_001458.5(FLNC):c.1166dup (p.Asn390fs)
|
|
|
|
NM_001458.5(FLNC):c.1175C>A (p.Ala392Asp)
|
rs1808189981
|
|
|
NM_001458.5(FLNC):c.1177A>C (p.Asn393His)
|
|
|
|
NM_001458.5(FLNC):c.1179C>T (p.Asn393=)
|
rs547934558
|
|
|
NM_001458.5(FLNC):c.1182A>G (p.Lys394=)
|
rs2128934426
|
|
|
NM_001458.5(FLNC):c.1185C>T (p.Pro395=)
|
|
|
|
NM_001458.5(FLNC):c.1187C>A (p.Thr396Asn)
|
rs2128934429
|
|
|
NM_001458.5(FLNC):c.1188C>A (p.Thr396=)
|
rs1585153728
|
|
|
NM_001458.5(FLNC):c.11A>G (p.Asn4Ser)
|
|
|
|
NM_001458.5(FLNC):c.1205del (p.Thr402fs)
|
rs2128934432
|
|
|
NM_001458.5(FLNC):c.1206T>A (p.Thr402=)
|
rs757898362
|
|
|
NM_001458.5(FLNC):c.1206T>G (p.Thr402=)
|
rs757898362
|
|
|
NM_001458.5(FLNC):c.1206_1207dup (p.Ala403fs)
|
|
|
|
NM_001458.5(FLNC):c.1208C>A (p.Ala403Glu)
|
rs777199447
|
|
|
NM_001458.5(FLNC):c.1210+15A>G
|
rs763122529
|
|
|
NM_001458.5(FLNC):c.1210+16G>A
|
|
|
|
NM_001458.5(FLNC):c.1210+20G>A
|
|
|
|
NM_001458.5(FLNC):c.1210+4G>A
|
rs2128934436
|
|
|
NM_001458.5(FLNC):c.1210+5G>A
|
rs770923888
|
|
|
NM_001458.5(FLNC):c.1210+7C>T
|
rs776554557
|
|
|
NM_001458.5(FLNC):c.1211-10T>C
|
|
|
|
NM_001458.5(FLNC):c.1211-11G>C
|
rs2128934481
|
|
|
NM_001458.5(FLNC):c.1211-13_1211-12del
|
|
|
|
NM_001458.5(FLNC):c.1211-4G>T
|
rs779760488
|
|
|
NM_001458.5(FLNC):c.1222G>A (p.Gly408Ser)
|
rs2128934484
|
|
|
NM_001458.5(FLNC):c.1233T>C (p.Ala411=)
|
rs1035589817
|
|
|
NM_001458.5(FLNC):c.1234G>C (p.Val412Leu)
|
|
|
|
NM_001458.5(FLNC):c.123del (p.Phe42fs)
|
|
|
|
NM_001458.5(FLNC):c.1242C>G (p.Ile414Met)
|
|
|
|
NM_001458.5(FLNC):c.1245G>A (p.Val415=)
|
|
|
|
NM_001458.5(FLNC):c.1246G>A (p.Asp416Asn)
|
|
|
|
NM_001458.5(FLNC):c.1248C>A (p.Asp416Glu)
|
|
|
|
NM_001458.5(FLNC):c.1250C>A (p.Pro417Gln)
|
|
|
|
NM_001458.5(FLNC):c.1255G>A (p.Gly419Ser)
|
|
|
|
NM_001458.5(FLNC):c.1258C>G (p.Arg420Gly)
|
|
|
|
NM_001458.5(FLNC):c.125T>G (p.Phe42Cys)
|
rs777706683
|
|
|
NM_001458.5(FLNC):c.1260del (p.Arg421fs)
|
rs2128934500
|
|
|
NM_001458.5(FLNC):c.1265A>G (p.Asp422Gly)
|
|
|
|
NM_001458.5(FLNC):c.1269A>C (p.Thr423=)
|
rs1808205111
|
|
|
NM_001458.5(FLNC):c.1272G>A (p.Val424=)
|
|
|
|
NM_001458.5(FLNC):c.1275G>A (p.Glu425=)
|
|
|
|
NM_001458.5(FLNC):c.127A>C (p.Thr43Pro)
|
rs1807852947
|
|
|
NM_001458.5(FLNC):c.1281C>T (p.Ala427=)
|
rs1055109116
|
|
|
NM_001458.5(FLNC):c.1282C>G (p.Leu428Val)
|
rs1585154042
|
|
|
NM_001458.5(FLNC):c.1286A>C (p.Glu429Ala)
|
rs1031308521
|
|
|
NM_001458.5(FLNC):c.1293G>A (p.Lys431=)
|
rs1808206047
|
|
|
NM_001458.5(FLNC):c.1295G>T (p.Gly432Val)
|
rs750350780
|
|
|
NM_001458.5(FLNC):c.129G>A (p.Thr43=)
|
|
|
|
NM_001458.5(FLNC):c.1301G>A (p.Ser434Asn)
|
rs1585154054
|
|
|
NM_001458.5(FLNC):c.1303A>G (p.Thr435Ala)
|
rs1808206478
|
|
|
NM_001458.5(FLNC):c.1309C>G (p.Arg437Gly)
|
rs374847180
|
|
|
NM_001458.5(FLNC):c.130C>T (p.Arg44Cys)
|
rs2128932137
|
|
|
NM_001458.5(FLNC):c.1310G>T (p.Arg437Leu)
|
rs370138936
|
|
|
NM_001458.5(FLNC):c.1311C>T (p.Arg437=)
|
rs2128934522
|
|
|
NM_001458.5(FLNC):c.1315_1328del (p.Thr439fs)
|
|
|
|
NM_001458.5(FLNC):c.131G>C (p.Arg44Pro)
|
|
|
|
NM_001458.5(FLNC):c.131G>T (p.Arg44Leu)
|
rs1807853136
|
|
|
NM_001458.5(FLNC):c.1325C>A (p.Pro442His)
|
rs1554397822
|
|
|
NM_001458.5(FLNC):c.1331T>C (p.Met444Thr)
|
|
|
|
NM_001458.5(FLNC):c.1332G>A (p.Met444Ile)
|
rs1343786191
|
|
|
NM_001458.5(FLNC):c.1338G>A (p.Gly446=)
|
rs2128934526
|
|
|
NM_001458.5(FLNC):c.133T>A (p.Trp45Arg)
|
|
|
|
NM_001458.5(FLNC):c.1341A>C (p.Pro447=)
|
|
|
|
NM_001458.5(FLNC):c.1341A>G (p.Pro447=)
|
rs2128934528
|
|
|
NM_001458.5(FLNC):c.1343_1350del (p.His448fs)
|
|
|
|
NM_001458.5(FLNC):c.1349T>C (p.Val450Ala)
|
|
|
|
NM_001458.5(FLNC):c.1350G>T (p.Val450=)
|
rs2128934535
|
|
|
NM_001458.5(FLNC):c.1351C>T (p.His451Tyr)
|
|
|
|
NM_001458.5(FLNC):c.1352A>C (p.His451Pro)
|
rs1808209347
|
|
|
NM_001458.5(FLNC):c.1372C>A (p.Pro458Thr)
|
rs369747694
|
|
|
NM_001458.5(FLNC):c.1373C>G (p.Pro458Arg)
|
rs1808210779
|
|
|
NM_001458.5(FLNC):c.1374del (p.Ile459fs)
|
|
|
|
NM_001458.5(FLNC):c.1382G>A (p.Arg461His)
|
rs377587489
|
|
|
NM_001458.5(FLNC):c.1382G>T (p.Arg461Leu)
|
rs377587489
|
|
|
NM_001458.5(FLNC):c.1383C>T (p.Arg461=)
|
rs1562992883
|
|
|
NM_001458.5(FLNC):c.1394C>T (p.Pro465Leu)
|
|
|
|
NM_001458.5(FLNC):c.139A>G (p.Asn47Asp)
|
|
|
|
NM_001458.5(FLNC):c.13A>G (p.Ser5Gly)
|
rs2128932075
|
|
|
NM_001458.5(FLNC):c.1411+10C>G
|
rs2128934548
|
|
|
NM_001458.5(FLNC):c.1411+14A>C
|
|
|
|
NM_001458.5(FLNC):c.1411+16T>A
|
|
|
|
NM_001458.5(FLNC):c.1411+17G>C
|
|
|
|
NM_001458.5(FLNC):c.1411+17G>T
|
rs954461668
|
|
|
NM_001458.5(FLNC):c.1411+1G>T
|
rs2128934545
|
|
|
NM_001458.5(FLNC):c.1411+8C>T
|
|
|
|
NM_001458.5(FLNC):c.1411+9C>G
|
|
|
|
NM_001458.5(FLNC):c.1411+9C>T
|
|
|
|
NM_001458.5(FLNC):c.1411G>A (p.Ala471Thr)
|
|
|
|
NM_001458.5(FLNC):c.1412-15C>G
|
|
|
|
NM_001458.5(FLNC):c.1412-3T>C
|
|
|
|
NM_001458.5(FLNC):c.1412-4C>G
|
|
|
|
NM_001458.5(FLNC):c.1412-6C>T
|
rs753700851
|
|
|
NM_001458.5(FLNC):c.1412-8T>G
|
rs1585155030
|
|
|
NM_001458.5(FLNC):c.1415G>A (p.Cys472Tyr)
|
|
|
|
NM_001458.5(FLNC):c.1420C>T (p.Pro474Ser)
|
rs1562993431
|
|
|
NM_001458.5(FLNC):c.1428C>T (p.Ala476=)
|
rs1585155086
|
|
|
NM_001458.5(FLNC):c.142_162dup (p.Glu48_Gly54dup)
|
rs1807853629
|
|
|
NM_001458.5(FLNC):c.1433G>C (p.Arg478Pro)
|
|
|
|
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter)
|
rs1420159591
|
|
|
NM_001458.5(FLNC):c.1445G>A (p.Arg482Gln)
|
rs770337434
|
|
|
NM_001458.5(FLNC):c.1448G>A (p.Gly483Asp)
|
rs1562993476
|
|
|
NM_001458.5(FLNC):c.1449C>G (p.Gly483=)
|
|
|
|
NM_001458.5(FLNC):c.1454A>G (p.Gln485Arg)
|
rs1012536919
|
|
|
NM_001458.5(FLNC):c.1462G>A (p.Gly488Ser)
|
|
|
|
NM_001458.5(FLNC):c.1463del (p.Gly488fs)
|
rs2128934867
|
|
|
NM_001458.5(FLNC):c.1469G>T (p.Arg490Leu)
|
rs1046320257
|
|
|
NM_001458.5(FLNC):c.146_147insT (p.Leu50fs)
|
rs2128932142
|
|
|
NM_001458.5(FLNC):c.1470C>A (p.Arg490=)
|
rs765212618
|
|
|
NM_001458.5(FLNC):c.1471G>C (p.Val491Leu)
|
rs770264114
|
|
|
NM_001458.5(FLNC):c.147delinsTCT (p.Lys51fs)
|
rs1562988883
|
|
|
NM_001458.5(FLNC):c.1484C>G (p.Ala495Gly)
|
|
|
|
NM_001458.5(FLNC):c.1484C>T (p.Ala495Val)
|
|
|
|
NM_001458.5(FLNC):c.1485T>C (p.Ala495=)
|
|
|
|
NM_001458.5(FLNC):c.148C>G (p.Leu50Val)
|
|
|
|
NM_001458.5(FLNC):c.1491C>T (p.Phe497=)
|
rs1199428558
|
|
|
NM_001458.5(FLNC):c.1499T>C (p.Phe500Ser)
|
rs2128934879
|
|
|
NM_001458.5(FLNC):c.1502C>T (p.Thr501Ile)
|
rs794727967
|
|
|
NM_001458.5(FLNC):c.1503C>T (p.Thr501=)
|
|
|
|
NM_001458.5(FLNC):c.1503_1504dup (p.Lys502fs)
|
rs2128934883
|
|
|
NM_001458.5(FLNC):c.1503del (p.Lys502fs)
|
|
|
|
NM_001458.5(FLNC):c.1508G>T (p.Gly503Val)
|
rs1483134760
|
|
|
NM_001458.5(FLNC):c.1510G>A (p.Ala504Thr)
|
rs1562993551
|
|
|
NM_001458.5(FLNC):c.1512C>T (p.Ala504=)
|
|
|
|
NM_001458.5(FLNC):c.1514G>A (p.Gly505Asp)
|
|
|
|
NM_001458.5(FLNC):c.1517G>A (p.Ser506Asn)
|
rs1554398094
|
|
|
NM_001458.5(FLNC):c.1519_1525del (p.Gly507fs)
|
rs1554398092
|
|
|
NM_001458.5(FLNC):c.1525C>G (p.Leu509Val)
|
|
|
|
NM_001458.5(FLNC):c.1525C>T (p.Leu509Phe)
|
|
|
|
NM_001458.5(FLNC):c.1529A>T (p.Lys510Met)
|
|
|
|
NM_001458.5(FLNC):c.1530G>A (p.Lys510=)
|
|
|
|
NM_001458.5(FLNC):c.1533C>T (p.Val511=)
|
rs2128934896
|
|
|
NM_001458.5(FLNC):c.1535C>A (p.Thr512Lys)
|
rs775538827
|
|
|
NM_001458.5(FLNC):c.1536G>C (p.Thr512=)
|
rs1335788654
|
|
|
NM_001458.5(FLNC):c.1539C>G (p.Val513=)
|
rs2128934900
|
|
|
NM_001458.5(FLNC):c.153G>A (p.Lys51=)
|
|
|
|
NM_001458.5(FLNC):c.1541A>C (p.Lys514Thr)
|
rs375881193
|
|
|
NM_001458.5(FLNC):c.1543G>A (p.Gly515Arg)
|
|
|
|
NM_001458.5(FLNC):c.1544G>A (p.Gly515Glu)
|
|
|
|
NM_001458.5(FLNC):c.1545G>A (p.Gly515=)
|
|
|
|
NM_001458.5(FLNC):c.1545G>T (p.Gly515=)
|
|
|
|
NM_001458.5(FLNC):c.1548_1549+2del
|
rs763330423
|
|
|
NM_001458.5(FLNC):c.1549+17A>G
|
|
|
|
NM_001458.5(FLNC):c.1549+1G>A
|
|
|
|
NM_001458.5(FLNC):c.1549+20G>A
|
|
|
|
NM_001458.5(FLNC):c.1549+2T>G
|
rs111806457
|
|
|
NM_001458.5(FLNC):c.1549+7G>A
|
|
|
|
NM_001458.5(FLNC):c.1549+8C>T
|
|
|
|
NM_001458.5(FLNC):c.1550-11C>A
|
|
|
|
NM_001458.5(FLNC):c.1550-13C>G
|
|
|
|
NM_001458.5(FLNC):c.1550-15C>T
|
|
|
|
NM_001458.5(FLNC):c.1550-16G>T
|
|
|
|
NM_001458.5(FLNC):c.1550-18C>A
|
rs1453268797
|
|
|
NM_001458.5(FLNC):c.1550-18C>G
|
|
|
|
NM_001458.5(FLNC):c.1550-8C>A
|
|
|
|
NM_001458.5(FLNC):c.1563G>A (p.Glu521=)
|
|
|
|
NM_001458.5(FLNC):c.1564C>G (p.Pro522Ala)
|
rs1808287052
|
|
|
NM_001458.5(FLNC):c.1565C>T (p.Pro522Leu)
|
|
|
|
NM_001458.5(FLNC):c.156dup (p.Val53fs)
|
rs2128932148
|
|
|
NM_001458.5(FLNC):c.157G>T (p.Val53Leu)
|
|
|
|
NM_001458.5(FLNC):c.1581G>A (p.Glu527=)
|
rs267601277
|
|
|
NM_001458.5(FLNC):c.1582G>A (p.Ala528Thr)
|
|
|
|
NM_001458.5(FLNC):c.1584T>C (p.Ala528=)
|
rs1585155668
|
|
|
NM_001458.5(FLNC):c.1584T>G (p.Ala528=)
|
|
|
|
NM_001458.5(FLNC):c.1586G>T (p.Gly529Val)
|
rs2128935018
|
|
|
NM_001458.5(FLNC):c.1589_1602del (p.Asp530fs)
|
|
|
|
NM_001458.5(FLNC):c.1593T>G (p.Gly531=)
|
|
|
|
NM_001458.5(FLNC):c.1593_1600del (p.Phe533fs)
|
|
|
|
NM_001458.5(FLNC):c.1598T>G (p.Phe533Cys)
|
|
|
|
NM_001458.5(FLNC):c.1599C>A (p.Phe533Leu)
|
rs768072902
|
|
|
NM_001458.5(FLNC):c.1600G>C (p.Glu534Gln)
|
rs201905890
|
|
|
NM_001458.5(FLNC):c.1603T>G (p.Cys535Gly)
|
rs1808289781
|
|
|
NM_001458.5(FLNC):c.1605C>A (p.Cys535Ter)
|
rs199976790
|
|
|
NM_001458.5(FLNC):c.1607A>G (p.Glu536Gly)
|
rs2128935033
|
|
|
NM_001458.5(FLNC):c.1617G>C (p.Pro539=)
|
rs369222964
|
|
|
NM_001458.5(FLNC):c.1618G>T (p.Val540Leu)
|
rs551472827
|
|
|
NM_001458.5(FLNC):c.161G>T (p.Gly54Val)
|
rs1032152678
|
|
|
NM_001458.5(FLNC):c.1620G>A (p.Val540=)
|
rs2128935043
|
|
|
NM_001458.5(FLNC):c.1628G>A (p.Gly543Glu)
|
rs1221769888
|
|
|
NM_001458.5(FLNC):c.1640T>C (p.Val547Ala)
|
|
|
|
NM_001458.5(FLNC):c.1644C>G (p.Thr548=)
|
|
|
|
NM_001458.5(FLNC):c.1646T>C (p.Ile549Thr)
|
|
|
|
NM_001458.5(FLNC):c.1649C>A (p.Thr550Lys)
|
|
|
|
NM_001458.5(FLNC):c.1650G>A (p.Thr550=)
|
rs754474889
|
|
|
NM_001458.5(FLNC):c.1651T>C (p.Trp551Arg)
|
|
|
|
NM_001458.5(FLNC):c.1654G>T (p.Gly552Cys)
|
|
|
|
NM_001458.5(FLNC):c.1655G>T (p.Gly552Val)
|
|
|
|
NM_001458.5(FLNC):c.1656C>T (p.Gly552=)
|
rs1585155760
|
|
|
NM_001458.5(FLNC):c.1662C>A (p.Tyr554Ter)
|
rs376975967
|
|
|
NM_001458.5(FLNC):c.1670del (p.Pro557fs)
|
rs2128935054
|
|
|
NM_001458.5(FLNC):c.1672C>G (p.Arg558Gly)
|
|
|
|
NM_001458.5(FLNC):c.1672C>T (p.Arg558Cys)
|
rs370326975
|
|
|
NM_001458.5(FLNC):c.1673G>A (p.Arg558His)
|
rs776881635
|
|
|
NM_001458.5(FLNC):c.1673G>T (p.Arg558Leu)
|
rs776881635
|
|
|
NM_001458.5(FLNC):c.1676+14G>A
|
|
|
|
NM_001458.5(FLNC):c.1676+14G>T
|
rs775501421
|
|
|
NM_001458.5(FLNC):c.1676+16C>T
|
rs764636531
|
|
|
NM_001458.5(FLNC):c.1676+1G>A
|
rs111452612
|
|
|
NM_001458.5(FLNC):c.1676+20C>T
|
|
|
|
NM_001458.5(FLNC):c.1676+20dup
|
rs751788846
|
|
|
NM_001458.5(FLNC):c.1676+2dup
|
rs2128935058
|
|
|
NM_001458.5(FLNC):c.1676+3G>A
|
|
|
|
NM_001458.5(FLNC):c.1676+9C>G
|
|
|
|
NM_001458.5(FLNC):c.1676+9C>T
|
rs568005957
|
|
|
NM_001458.5(FLNC):c.1677-12C>A
|
|
|
|
NM_001458.5(FLNC):c.1677-12C>G
|
|
|
|
NM_001458.5(FLNC):c.1677-14C>A
|
|
|
|
NM_001458.5(FLNC):c.1677-16C>A
|
|
|
|
NM_001458.5(FLNC):c.1677-3C>G
|
|
|
|
NM_001458.5(FLNC):c.1682T>C (p.Phe561Ser)
|
|
|
|
NM_001458.5(FLNC):c.1688T>C (p.Val563Ala)
|
rs774963796
|
|
|
NM_001458.5(FLNC):c.168C>T (p.Arg56=)
|
|
|
|
NM_001458.5(FLNC):c.1693G>A (p.Val565Met)
|
|
|
|
NM_001458.5(FLNC):c.1693G>T (p.Val565Leu)
|
|
|
|
NM_001458.5(FLNC):c.1695G>A (p.Val565=)
|
rs982956977
|
|
|
NM_001458.5(FLNC):c.1696A>T (p.Ser566Cys)
|
|
|
|
NM_001458.5(FLNC):c.16G>A (p.Gly6Ser)
|
rs1284761356
|
|
|
NM_001458.5(FLNC):c.16G>C (p.Gly6Arg)
|
rs1284761356
|
|
|
NM_001458.5(FLNC):c.1706C>T (p.Ala569Val)
|
rs2128935115
|
|
|
NM_001458.5(FLNC):c.1709G>C (p.Gly570Ala)
|
|
|
|
NM_001458.5(FLNC):c.170T>C (p.Leu57Pro)
|
rs1585147774
|
|
|
NM_001458.5(FLNC):c.1710A>T (p.Gly570=)
|
|
|
|
NM_001458.5(FLNC):c.1711G>A (p.Val571Met)
|
rs1194021325
|
|
|
NM_001458.5(FLNC):c.1712T>C (p.Val571Ala)
|
rs750817835
|
|
|
NM_001458.5(FLNC):c.1713G>C (p.Val571=)
|
|
|
|
NM_001458.5(FLNC):c.1716A>G (p.Gln572=)
|
|
|
|
NM_001458.5(FLNC):c.1723C>A (p.Arg575=)
|
|
|
|
NM_001458.5(FLNC):c.1723C>T (p.Arg575Trp)
|
rs761117952
|
|
|
NM_001458.5(FLNC):c.1724G>C (p.Arg575Pro)
|
rs764751276
|
|
|
NM_001458.5(FLNC):c.1728C>A (p.Ala576=)
|
rs370464621
|
|
|
NM_001458.5(FLNC):c.1730G>A (p.Trp577Ter)
|
rs2128935124
|
|
|
NM_001458.5(FLNC):c.1735C>A (p.Pro579Thr)
|
rs1808303402
|
|
|
NM_001458.5(FLNC):c.1748C>T (p.Thr583Ile)
|
rs2128935128
|
|
|
NM_001458.5(FLNC):c.174C>A (p.Thr58=)
|
rs763488290
|
|
|
NM_001458.5(FLNC):c.1756G>T (p.Val586Leu)
|
|
|
|
NM_001458.5(FLNC):c.1758G>A (p.Val586=)
|
|
|
|
NM_001458.5(FLNC):c.175dup (p.Asp59fs)
|
|
|
|
NM_001458.5(FLNC):c.1773T>C (p.Asp591=)
|
|
|
|
NM_001458.5(FLNC):c.1774T>C (p.Phe592Leu)
|
|
|
|
NM_001458.5(FLNC):c.1790T>C (p.Ile597Thr)
|
|
|
|
NM_001458.5(FLNC):c.179T>A (p.Leu60Gln)
|
rs1807855891
|
|
|
NM_001458.5(FLNC):c.179T>G (p.Leu60Arg)
|
|
|
|
NM_001458.5(FLNC):c.1800G>A (p.Glu600=)
|
rs775105479
|
|
|
NM_001458.5(FLNC):c.1801G>A (p.Val601Met)
|
rs762652248
|
|
|
NM_001458.5(FLNC):c.1806_1809dup (p.Leu604fs)
|
|
|
|
NM_001458.5(FLNC):c.1810C>A (p.Leu604Met)
|
|
|
|
NM_001458.5(FLNC):c.1810C>T (p.Leu604=)
|
rs1554398303
|
|
|
NM_001458.5(FLNC):c.1811T>C (p.Leu604Pro)
|
|
|
|
NM_001458.5(FLNC):c.1813+16G>A
|
|
|
|
NM_001458.5(FLNC):c.1813+16dup
|
|
|
|
NM_001458.5(FLNC):c.1813+18AGG[2]
|
|
|
|
NM_001458.5(FLNC):c.1813+9C>A
|
|
|
|
NM_001458.5(FLNC):c.1813G>A (p.Gly605Ser)
|
rs1562994122
|
|
|
NM_001458.5(FLNC):c.1814-11C>T
|
|
|
|
NM_001458.5(FLNC):c.1814-12A>G
|
|
|
|
NM_001458.5(FLNC):c.1814-13C>T
|
rs766268709
|
|
|
NM_001458.5(FLNC):c.1814-14C>T
|
|
|
|
NM_001458.5(FLNC):c.1814-15C>G
|
|
|
|
NM_001458.5(FLNC):c.1814-1G>A
|
|
|
|
NM_001458.5(FLNC):c.1814-3C>G
|
rs1162747854
|
|
|
NM_001458.5(FLNC):c.1814-4C>G
|
|
|
|
NM_001458.5(FLNC):c.1814-6C>G
|
|
|
|
NM_001458.5(FLNC):c.1814-7G>A
|
rs2128935218
|
|
|
NM_001458.5(FLNC):c.1814G>C (p.Gly605Ala)
|
|
|
|
NM_001458.5(FLNC):c.1815C>T (p.Gly605=)
|
rs2128935228
|
|
|
NM_001458.5(FLNC):c.1816T>G (p.Phe606Val)
|
rs1808316775
|
|
|
NM_001458.5(FLNC):c.181C>T (p.Gln61Ter)
|
rs2128932161
|
|
|
NM_001458.5(FLNC):c.1822A>T (p.Ile608Phe)
|
|
|
|
NM_001458.5(FLNC):c.1824C>G (p.Ile608Met)
|
rs753007069
|
|
|
NM_001458.5(FLNC):c.1824C>T (p.Ile608=)
|
|
|
|
NM_001458.5(FLNC):c.1825G>C (p.Glu609Gln)
|
rs758389160
|
|
|
NM_001458.5(FLNC):c.1830G>C (p.Gly610=)
|
rs747467683
|
|
|
NM_001458.5(FLNC):c.1830dup (p.Pro611fs)
|
|
|
|
NM_001458.5(FLNC):c.1831C>T (p.Pro611Ser)
|
|
|
|
NM_001458.5(FLNC):c.1844dup (p.Ile616fs)
|
rs1808318504
|
|
|
NM_001458.5(FLNC):c.1847T>A (p.Ile616Asn)
|
|
|
|
NM_001458.5(FLNC):c.1848C>A (p.Ile616=)
|
|
|
|
NM_001458.5(FLNC):c.1848C>G (p.Ile616Met)
|
rs770173704
|
|
|
NM_001458.5(FLNC):c.1849G>T (p.Glu617Ter)
|
|
|
|
NM_001458.5(FLNC):c.1851A>T (p.Glu617Asp)
|
rs199715890
|
|
|
NM_001458.5(FLNC):c.1855GAC[1] (p.Asp620del)
|
|
|
|
NM_001458.5(FLNC):c.1857C>G (p.Asp619Glu)
|
rs771469976
|
|
|
NM_001458.5(FLNC):c.1858G>A (p.Asp620Asn)
|
rs567514134
|
|
|
NM_001458.5(FLNC):c.1858G>C (p.Asp620His)
|
rs567514134
|
|
|
NM_001458.5(FLNC):c.1861_1885dup (p.Arg629fs)
|
rs1585156327
|
|
|
NM_001458.5(FLNC):c.1862A>T (p.Lys621Met)
|
|
|
|
NM_001458.5(FLNC):c.1866G>A (p.Gly622=)
|
rs2128935248
|
|
|
NM_001458.5(FLNC):c.1866_1867del (p.Asp623fs)
|
|
|
|
NM_001458.5(FLNC):c.1871G>C (p.Gly624Ala)
|
|
|
|
NM_001458.5(FLNC):c.1872C>T (p.Gly624=)
|
rs2128935252
|
|
|
NM_001458.5(FLNC):c.187G>T (p.Asp63Tyr)
|
|
|
|
NM_001458.5(FLNC):c.1881T>C (p.Asp627=)
|
rs2128935255
|
|
|
NM_001458.5(FLNC):c.1882G>A (p.Val628Met)
|
|
|
|
NM_001458.5(FLNC):c.1890C>G (p.Tyr630Ter)
|
rs2128935258
|
|
|
NM_001458.5(FLNC):c.1890C>T (p.Tyr630=)
|
|
|
|
NM_001458.5(FLNC):c.1893G>A (p.Trp631Ter)
|
rs1808320936
|
|
|
NM_001458.5(FLNC):c.1893G>C (p.Trp631Cys)
|
rs1808320936
|
|
|
NM_001458.5(FLNC):c.1895C>A (p.Pro632His)
|
rs1482049894
|
|
|
NM_001458.5(FLNC):c.1896C>T (p.Pro632=)
|
rs1013540977
|
|
|
NM_001458.5(FLNC):c.1903C>T (p.Pro635Ser)
|
|
|
|
NM_001458.5(FLNC):c.1908G>A (p.Gly636=)
|
rs2128935267
|
|
|
NM_001458.5(FLNC):c.1914C>G (p.Tyr638Ter)
|
rs757352623
|
|
|
NM_001458.5(FLNC):c.1914C>T (p.Tyr638=)
|
|
|
|
NM_001458.5(FLNC):c.1915G>A (p.Ala639Thr)
|
rs1175392094
|
|
|
NM_001458.5(FLNC):c.1915G>T (p.Ala639Ser)
|
|
|
|
NM_001458.5(FLNC):c.1917T>G (p.Ala639=)
|
rs781632907
|
|
|
NM_001458.5(FLNC):c.1927A>C (p.Ile643Leu)
|
rs1808322583
|
|
|
NM_001458.5(FLNC):c.1927A>G (p.Ile643Val)
|
rs1808322583
|
|
|
NM_001458.5(FLNC):c.1934A>C (p.Asp645Ala)
|
rs1554398369
|
|
|
NM_001458.5(FLNC):c.1935C>T (p.Asp645=)
|
|
|
|
NM_001458.5(FLNC):c.1935_1937del (p.Asp646del)
|
rs765300084
|
|
|
NM_001458.5(FLNC):c.1938T>A (p.Asp646Glu)
|
rs1347868577
|
|
|
NM_001458.5(FLNC):c.1945_1953dup (p.Ile649_Asp651dup)
|
rs1554398377
|
|
|
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter)
|
rs770606675
|
|
|
NM_001458.5(FLNC):c.1949G>A (p.Arg650Gln)
|
|
|
|
NM_001458.5(FLNC):c.1958C>T (p.Pro653Leu)
|
rs1808324139
|
|
|
NM_001458.5(FLNC):c.195C>A (p.Ser65Arg)
|
|
|
|
NM_001458.5(FLNC):c.1962C>T (p.Phe654=)
|
rs1585156448
|
|
|
NM_001458.5(FLNC):c.1963A>G (p.Ile655Val)
|
rs2128935277
|
|
|
NM_001458.5(FLNC):c.1965_1966del (p.Ala656fs)
|
rs1585156450
|
|
|
NM_001458.5(FLNC):c.1975C>G (p.Leu659Val)
|
|
|
|
NM_001458.5(FLNC):c.197A>C (p.Asp66Ala)
|
|
|
|
NM_001458.5(FLNC):c.197A>G (p.Asp66Gly)
|
|
|
|
NM_001458.5(FLNC):c.1991_1994del (p.Asp664fs)
|
rs2128935287
|
|
|
NM_001458.5(FLNC):c.1994G>A (p.Cys665Tyr)
|
|
|
|
NM_001458.5(FLNC):c.199G>A (p.Gly67Arg)
|
|
|
|
NM_001458.5(FLNC):c.2007+10C>T
|
rs2128935294
|
|
|
NM_001458.5(FLNC):c.2007+12G>A
|
|
|
|
NM_001458.5(FLNC):c.2007+17C>T
|
|
|
|
NM_001458.5(FLNC):c.2007+18_2007+23del
|
rs1808326543
|
|
|
NM_001458.5(FLNC):c.2007+1G>A
|
|
|
|
NM_001458.5(FLNC):c.2007+6G>A
|
rs757293841
|
|
|
NM_001458.5(FLNC):c.2008-10C>T
|
rs2128935323
|
|
|
NM_001458.5(FLNC):c.2008-10dup
|
|
|
|
NM_001458.5(FLNC):c.2008-11C>T
|
|
|
|
NM_001458.5(FLNC):c.2008-18C>A
|
rs763833533
|
|
|
NM_001458.5(FLNC):c.2008-3C>T
|
|
|
|
NM_001458.5(FLNC):c.2008-5C>T
|
rs2128935333
|
|
|
NM_001458.5(FLNC):c.2008-5del
|
rs2128935334
|
|
|
NM_001458.5(FLNC):c.2008-6G>A
|
rs577813339
|
|
|
NM_001458.5(FLNC):c.2008-6G>T
|
rs577813339
|
|
|
NM_001458.5(FLNC):c.2008-9T>C
|
rs2128935326
|
|
|
NM_001458.5(FLNC):c.2008G>A (p.Val670Met)
|
|
|
|
NM_001458.5(FLNC):c.200G>T (p.Gly67Val)
|
rs1807857687
|
|
|
NM_001458.5(FLNC):c.2022G>A (p.Gly674=)
|
rs1359520022
|
|
|
NM_001458.5(FLNC):c.2029C>T (p.Leu677=)
|
rs754331955
|
|
|
NM_001458.5(FLNC):c.2033A>G (p.Glu678Gly)
|
rs1232073461
|
|
|
NM_001458.5(FLNC):c.2035C>T (p.Pro679Ser)
|
rs1808331792
|
|
|
NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu)
|
rs975517733
|
|
|
NM_001458.5(FLNC):c.2046C>T (p.Cys682=)
|
|
|
|
NM_001458.5(FLNC):c.2047A>G (p.Ile683Val)
|
|
|
|
NM_001458.5(FLNC):c.2048_2049del (p.Ile683fs)
|
rs2128935347
|
|
|
NM_001458.5(FLNC):c.2049C>T (p.Ile683=)
|
|
|
|
NM_001458.5(FLNC):c.2050G>C (p.Val684Leu)
|
rs769221710
|
|
|
NM_001458.5(FLNC):c.2052G>A (p.Val684=)
|
rs1554398437
|
|
|
NM_001458.5(FLNC):c.2053G>A (p.Asp685Asn)
|
|
|
|
NM_001458.5(FLNC):c.2059C>T (p.Pro687Ser)
|
|
|
|
NM_001458.5(FLNC):c.2061C>A (p.Pro687=)
|
rs545269561
|
|
|
NM_001458.5(FLNC):c.2062G>A (p.Ala688Thr)
|
rs774194364
|
|
|
NM_001458.5(FLNC):c.2062G>C (p.Ala688Pro)
|
rs774194364
|
|
|
NM_001458.5(FLNC):c.2062G>T (p.Ala688Ser)
|
rs774194364
|
|
|
NM_001458.5(FLNC):c.2065G>T (p.Glu689Ter)
|
rs1446694237
|
|
|
NM_001458.5(FLNC):c.2072C>T (p.Thr691Ile)
|
rs2128935358
|
|
|
NM_001458.5(FLNC):c.2073C>T (p.Thr691=)
|
rs2128935360
|
|
|
NM_001458.5(FLNC):c.2083C>T (p.Arg695Cys)
|
|
|
|
NM_001458.5(FLNC):c.2084G>A (p.Arg695His)
|
rs766592492
|
|
|
NM_001458.5(FLNC):c.2084G>C (p.Arg695Pro)
|
rs766592492
|
|
|
NM_001458.5(FLNC):c.2084G>T (p.Arg695Leu)
|
rs766592492
|
|
|
NM_001458.5(FLNC):c.2084del (p.Arg695fs)
|
rs1808334682
|
|
|
NM_001458.5(FLNC):c.2090C>T (p.Ala697Val)
|
|
|
|
NM_001458.5(FLNC):c.2092G>A (p.Gly698Ser)
|
rs1461903090
|
|
|
NM_001458.5(FLNC):c.2093G>A (p.Gly698Asp)
|
rs1562994518
|
|
|
NM_001458.5(FLNC):c.2094C>T (p.Gly698=)
|
rs1585156683
|
|
|
NM_001458.5(FLNC):c.2099G>A (p.Gly700Glu)
|
|
|
|
NM_001458.5(FLNC):c.2106G>A (p.Leu702=)
|
|
|
|
NM_001458.5(FLNC):c.2107_2119delinsT (p.Lys703_Gln707delinsTer)
|
rs1585156701
|
|
|
NM_001458.5(FLNC):c.2108A>G (p.Lys703Arg)
|
rs753914864
|
|
|
NM_001458.5(FLNC):c.210C>G (p.Leu70=)
|
rs777794633
|
|
|
NM_001458.5(FLNC):c.210C>T (p.Leu70=)
|
|
|
|
NM_001458.5(FLNC):c.2114_2115del (p.Tyr705fs)
|
|
|
|
NM_001458.5(FLNC):c.2119C>T (p.Gln707Ter)
|
rs1808336992
|
|
|
NM_001458.5(FLNC):c.211A>G (p.Ile71Val)
|
rs1250893880
|
|
|
NM_001458.5(FLNC):c.2121+10T>C
|
rs527417498
|
|
|
NM_001458.5(FLNC):c.2121+9T>C
|
rs2128935382
|
|
|
NM_001458.5(FLNC):c.2122-18C>T
|
|
|
|
NM_001458.5(FLNC):c.2122-19G>A
|
|
|
|
NM_001458.5(FLNC):c.2122-6C>G
|
rs1808361488
|
|
|
NM_001458.5(FLNC):c.2122-9T>C
|
rs369054931
|
|
|
NM_001458.5(FLNC):c.2124C>A (p.Asp708Glu)
|
rs187481700
|
|
|
NM_001458.5(FLNC):c.2125G>T (p.Ala709Ser)
|
|
|
|
NM_001458.5(FLNC):c.212T>C (p.Ile71Thr)
|
rs1554396387
|
|
|
NM_001458.5(FLNC):c.2130C>A (p.Asp710Glu)
|
rs778781499
|
|
|
NM_001458.5(FLNC):c.2131_2145del (p.Gly711_Asp715del)
|
|
|
|
NM_001458.5(FLNC):c.213C>T (p.Ile71=)
|
rs2128932186
|
|
|
NM_001458.5(FLNC):c.2140A>G (p.Ile714Val)
|
|
|
|
NM_001458.5(FLNC):c.2142C>A (p.Ile714=)
|
rs199595235
|
|
|
NM_001458.5(FLNC):c.2142C>G (p.Ile714Met)
|
rs199595235
|
|
|
NM_001458.5(FLNC):c.2142C>T (p.Ile714=)
|
rs199595235
|
|
|
NM_001458.5(FLNC):c.2145C>T (p.Asp715=)
|
rs1585157201
|
|
|
NM_001458.5(FLNC):c.2145_2146dup (p.Ile716fs)
|
|
|
|
NM_001458.5(FLNC):c.2146A>G (p.Ile716Val)
|
rs1808363671
|
|
|
NM_001458.5(FLNC):c.2148C>T (p.Ile716=)
|
|
|
|
NM_001458.5(FLNC):c.2149A>G (p.Lys717Glu)
|
|
|
|
NM_001458.5(FLNC):c.2150A>T (p.Lys717Met)
|
|
|
|
NM_001458.5(FLNC):c.2151G>A (p.Lys717=)
|
|
|
|
NM_001458.5(FLNC):c.2155A>T (p.Ile719Phe)
|
rs1808363999
|
|
|
NM_001458.5(FLNC):c.2157C>A (p.Ile719=)
|
|
|
|
NM_001458.5(FLNC):c.215C>T (p.Ala72Val)
|
rs893814984
|
|
|
NM_001458.5(FLNC):c.2160C>T (p.Pro720=)
|
rs1389842402
|
|
|
NM_001458.5(FLNC):c.2160del (p.Asn721fs)
|
|
|
|
NM_001458.5(FLNC):c.2163C>T (p.Asn721=)
|
rs370539335
|
|
|
NM_001458.5(FLNC):c.2166C>T (p.Gly722=)
|
rs1808364808
|
|
|
NM_001458.5(FLNC):c.2167G>A (p.Asp723Asn)
|
rs375414341
|
|
|
NM_001458.5(FLNC):c.2168A>T (p.Asp723Val)
|
rs1808365040
|
|
|
NM_001458.5(FLNC):c.216G>A (p.Ala72=)
|
rs757077955
|
|
|
NM_001458.5(FLNC):c.2171G>A (p.Gly724Asp)
|
rs1554398553
|
|
|
NM_001458.5(FLNC):c.2171G>T (p.Gly724Val)
|
|
|
|
NM_001458.5(FLNC):c.2178C>T (p.Phe726=)
|
|
|
|
NM_001458.5(FLNC):c.2181C>T (p.Arg727=)
|
|
|
|
NM_001458.5(FLNC):c.2188_2205del (p.Tyr730_Pro735del)
|
rs2128935556
|
|
|
NM_001458.5(FLNC):c.2189A>G (p.Tyr730Cys)
|
|
|
|
NM_001458.5(FLNC):c.2190_2192del (p.Tyr730_Val731delinsTer)
|
|
|
|
NM_001458.5(FLNC):c.2194C>T (p.Pro732Ser)
|
rs1562994905
|
|
|
NM_001458.5(FLNC):c.2199C>G (p.Thr733=)
|
rs200655185
|
|
|
NM_001458.5(FLNC):c.2199C>T (p.Thr733=)
|
rs200655185
|
|
|
NM_001458.5(FLNC):c.21C>T (p.Tyr7=)
|
rs201179596
|
|
|
NM_001458.5(FLNC):c.2201A>G (p.Lys734Arg)
|
rs1585157281
|
|
|
NM_001458.5(FLNC):c.2202G>C (p.Lys734Asn)
|
rs769984017
|
|
|
NM_001458.5(FLNC):c.2206A>G (p.Ile736Val)
|
rs2128935565
|
|
|
NM_001458.5(FLNC):c.2218A>G (p.Ile740Val)
|
|
|
|
NM_001458.5(FLNC):c.2219T>C (p.Ile740Thr)
|
rs2128935573
|
|
|
NM_001458.5(FLNC):c.2224A>G (p.Ile742Val)
|
rs769224072
|
|
|
NM_001458.5(FLNC):c.2227T>C (p.Ser743Pro)
|
|
|
|
NM_001458.5(FLNC):c.2228C>T (p.Ser743Phe)
|
|
|
|
NM_001458.5(FLNC):c.2228_2230del (p.Ser743del)
|
rs2128935577
|
|
|
NM_001458.5(FLNC):c.2234del (p.Gly745fs)
|
rs1374893890
|
|
|
NM_001458.5(FLNC):c.2245G>C (p.Val749Leu)
|
rs763901270
|
|
|
NM_001458.5(FLNC):c.2246T>A (p.Val749Glu)
|
rs932445396
|
|
|
NM_001458.5(FLNC):c.2248C>G (p.Pro750Ala)
|
rs1808369718
|
|
|
NM_001458.5(FLNC):c.2249C>T (p.Pro750Leu)
|
|
|
|
NM_001458.5(FLNC):c.2250C>A (p.Pro750=)
|
|
|
|
NM_001458.5(FLNC):c.2253G>A (p.Lys751=)
|
|
|
|
NM_001458.5(FLNC):c.2254A>G (p.Ser752Gly)
|
|
|
|
NM_001458.5(FLNC):c.2255G>A (p.Ser752Asn)
|
|
|
|
NM_001458.5(FLNC):c.2265+10C>A
|
|
|
|
NM_001458.5(FLNC):c.2265+12C>T
|
rs2291566
|
|
|
NM_001458.5(FLNC):c.2265+13G>A
|
|
|
|
NM_001458.5(FLNC):c.2265+18G>A
|
|
|
|
NM_001458.5(FLNC):c.2265+18_2265+20del
|
|
|
|
NM_001458.5(FLNC):c.2265+19C>G
|
|
|
|
NM_001458.5(FLNC):c.2265+1G>A
|
rs1585157354
|
|
|
NM_001458.5(FLNC):c.2266-15C>T
|
|
|
|
NM_001458.5(FLNC):c.2266-4G>T
|
|
|
|
NM_001458.5(FLNC):c.2271C>T (p.Asn757=)
|
|
|
|
NM_001458.5(FLNC):c.2275G>C (p.Gly759Arg)
|
|
|
|
NM_001458.5(FLNC):c.2286C>G (p.Ser762Arg)
|
rs1160582987
|
|
|
NM_001458.5(FLNC):c.2296C>A (p.Arg766=)
|
|
|
|
NM_001458.5(FLNC):c.2299del (p.Arg766_Val767insTer)
|
rs2128935670
|
|
|
NM_001458.5(FLNC):c.2316C>G (p.Pro772=)
|
rs377595203
|
|
|
NM_001458.5(FLNC):c.231C>T (p.Leu77=)
|
|
|
|
NM_001458.5(FLNC):c.231_232insGTATGC (p.Leu77_Ser78insValCys)
|
rs2128932197
|
|
|
NM_001458.5(FLNC):c.2321T>C (p.Val774Ala)
|
rs1808383222
|
|
|
NM_001458.5(FLNC):c.2322G>A (p.Val774=)
|
rs2128935682
|
|
|
NM_001458.5(FLNC):c.232A>G (p.Ser78Gly)
|
rs746082496
|
|
|
NM_001458.5(FLNC):c.2331A>G (p.Thr777=)
|
rs1585157630
|
|
|
NM_001458.5(FLNC):c.2335C>T (p.Leu779Phe)
|
rs2128935691
|
|
|
NM_001458.5(FLNC):c.2338A>G (p.Lys780Glu)
|
|
|
|
NM_001458.5(FLNC):c.2346T>C (p.Asn782=)
|
|
|
|
NM_001458.5(FLNC):c.2347G>A (p.Glu783Lys)
|
|
|
|
NM_001458.5(FLNC):c.234_235delinsTT (p.Gln79Ter)
|
|
|
|
NM_001458.5(FLNC):c.234_235insTCGTATGCAGCTCGTATG (p.Ser78_Gln79insSerTyrAlaAlaArgMet)
|
rs2128932203
|
|
|
NM_001458.5(FLNC):c.2351C>G (p.Pro784Arg)
|
rs2128935692
|
|
|
NM_001458.5(FLNC):c.2359T>C (p.Phe787Leu)
|
|
|
|
NM_001458.5(FLNC):c.2360T>C (p.Phe787Ser)
|
rs760513917
|
|
|
NM_001458.5(FLNC):c.2363C>G (p.Thr788Arg)
|
rs1010774264
|
|
|
NM_001458.5(FLNC):c.2364G>C (p.Thr788=)
|
|
|
|
NM_001458.5(FLNC):c.2368G>A (p.Asp790Asn)
|
|
|
|
NM_001458.5(FLNC):c.2382G>C (p.Ala794=)
|
rs536456072
|
|
|
NM_001458.5(FLNC):c.2383G>A (p.Gly795Arg)
|
rs1196887010
|
|
|
NM_001458.5(FLNC):c.2385del (p.Gln796fs)
|
|
|
|
NM_001458.5(FLNC):c.2389+14G>T
|
rs2128935710
|
|
|
NM_001458.5(FLNC):c.2389+17G>A
|
|
|
|
NM_001458.5(FLNC):c.2389+18G>A
|
|
|
|
NM_001458.5(FLNC):c.2389+1G>T
|
|
|
|
NM_001458.5(FLNC):c.2389+20del
|
|
|
|
NM_001458.5(FLNC):c.2389+2T>C
|
rs112903432
|
|
|
NM_001458.5(FLNC):c.2390-10_2406del
|
rs1554398674
|
|
|
NM_001458.5(FLNC):c.2390-13C>G
|
rs78086167
|
|
|
NM_001458.5(FLNC):c.2390-16G>A
|
|
|
|
NM_001458.5(FLNC):c.2390-18G>C
|
|
|
|
NM_001458.5(FLNC):c.2390-6C>T
|
rs1585157852
|
|
|
NM_001458.5(FLNC):c.2391C>A (p.Gly797=)
|
rs374768092
|
|
|
NM_001458.5(FLNC):c.2391C>T (p.Gly797=)
|
rs374768092
|
|
|
NM_001458.5(FLNC):c.2392G>T (p.Asp798Tyr)
|
rs778594252
|
|
|
NM_001458.5(FLNC):c.2394C>A (p.Asp798Glu)
|
|
|
|
NM_001458.5(FLNC):c.2395G>A (p.Val799Met)
|
rs1345929888
|
|
|
NM_001458.5(FLNC):c.2401A>T (p.Ile801Phe)
|
|
|
|
NM_001458.5(FLNC):c.2403C>A (p.Ile801=)
|
rs369234137
|
|
|
NM_001458.5(FLNC):c.2404G>C (p.Gly802Arg)
|
|
|
|
NM_001458.5(FLNC):c.2412G>A (p.Lys804=)
|
|
|
|
NM_001458.5(FLNC):c.2413T>C (p.Cys805Arg)
|
|
|
|
NM_001458.5(FLNC):c.2415C>G (p.Cys805Trp)
|
|
|
|
NM_001458.5(FLNC):c.2416G>C (p.Ala806Pro)
|
|
|
|
NM_001458.5(FLNC):c.2417C>A (p.Ala806Asp)
|
|
|
|
NM_001458.5(FLNC):c.241C>T (p.Arg81Cys)
|
rs1374458008
|
|
|
NM_001458.5(FLNC):c.2426TGG[1] (p.Val810del)
|
rs1585157919
|
|
|
NM_001458.5(FLNC):c.2427G>A (p.Val809=)
|
|
|
|
NM_001458.5(FLNC):c.2428G>C (p.Val810Leu)
|
rs763153223
|
|
|
NM_001458.5(FLNC):c.2432G>C (p.Gly811Ala)
|
|
|
|
NM_001458.5(FLNC):c.2432del (p.Gly811fs)
|
rs776269505
|
|
|
NM_001458.5(FLNC):c.2433C>A (p.Gly811=)
|
|
|
|
NM_001458.5(FLNC):c.2434C>T (p.Pro812Ser)
|
rs1808396338
|
|
|
NM_001458.5(FLNC):c.244A>C (p.Met82Leu)
|
rs2128932209
|
|
|
NM_001458.5(FLNC):c.2454C>T (p.Asp818=)
|
rs2128935767
|
|
|
NM_001458.5(FLNC):c.2459A>T (p.Asp820Val)
|
rs886044638
|
|
|
NM_001458.5(FLNC):c.245T>A (p.Met82Lys)
|
rs1807859917
|
|
|
NM_001458.5(FLNC):c.245T>G (p.Met82Arg)
|
rs1807859917
|
|
|
NM_001458.5(FLNC):c.2460C>A (p.Asp820Glu)
|
|
|
|
NM_001458.5(FLNC):c.2460C>T (p.Asp820=)
|
|
|
|
NM_001458.5(FLNC):c.2463C>A (p.Ile821=)
|
|
|
|
NM_001458.5(FLNC):c.2469G>A (p.Lys823=)
|
|
|
|
NM_001458.5(FLNC):c.246G>A (p.Met82Ile)
|
rs1554396403
|
|
|
NM_001458.5(FLNC):c.2470A>T (p.Asn824Tyr)
|
rs1562995383
|
|
|
NM_001458.5(FLNC):c.2474A>G (p.Asp825Gly)
|
rs559621589
|
|
|
NM_001458.5(FLNC):c.2476_2478del (p.Asn826del)
|
rs1188205440
|
|
|
NM_001458.5(FLNC):c.2478C>A (p.Asn826Lys)
|
|
|
|
NM_001458.5(FLNC):c.2494A>C (p.Lys832Gln)
|
rs2128935786
|
|
|
NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter)
|
rs1389742580
|
|
|
NM_001458.5(FLNC):c.2499C>T (p.Tyr833=)
|
|
|
|
NM_001458.5(FLNC):c.2506C>T (p.Pro836Ser)
|
rs1422445527
|
|
|
NM_001458.5(FLNC):c.2507C>T (p.Pro836Leu)
|
rs199652368
|
|
|
NM_001458.5(FLNC):c.2507del (p.Pro836fs)
|
rs1808400111
|
|
|
NM_001458.5(FLNC):c.2508A>G (p.Pro836=)
|
|
|
|
NM_001458.5(FLNC):c.2508del (p.Ala838fs)
|
rs1808400430
|
|
|
NM_001458.5(FLNC):c.250C>G (p.Arg84Gly)
|
|
|
|
NM_001458.5(FLNC):c.2512G>A (p.Ala838Thr)
|
rs1808400610
|
|
|
NM_001458.5(FLNC):c.2513C>G (p.Ala838Gly)
|
|
|
|
NM_001458.5(FLNC):c.251G>C (p.Arg84Pro)
|
|
|
|
NM_001458.5(FLNC):c.2521T>C (p.Tyr841His)
|
rs2128935808
|
|
|
NM_001458.5(FLNC):c.2526C>A (p.Thr842=)
|
|
|
|
NM_001458.5(FLNC):c.2526C>T (p.Thr842=)
|
rs750927692
|
|
|
NM_001458.5(FLNC):c.2527A>T (p.Ile843Phe)
|
rs973425855
|
|
|
NM_001458.5(FLNC):c.2528T>C (p.Ile843Thr)
|
|
|
|
NM_001458.5(FLNC):c.2531T>C (p.Met844Thr)
|
|
|
|
NM_001458.5(FLNC):c.2538G>A (p.Leu846=)
|
rs766913091
|
|
|
NM_001458.5(FLNC):c.2538G>T (p.Leu846=)
|
|
|
|
NM_001458.5(FLNC):c.2539T>C (p.Phe847Leu)
|
|
|
|
NM_001458.5(FLNC):c.2541T>C (p.Phe847=)
|
|
|
|
NM_001458.5(FLNC):c.2542G>A (p.Ala848Thr)
|
|
|
|
NM_001458.5(FLNC):c.2546A>G (p.Asn849Ser)
|
rs755425307
|
|
|
NM_001458.5(FLNC):c.2546A>T (p.Asn849Ile)
|
rs755425307
|
|
|
NM_001458.5(FLNC):c.2548C>T (p.Gln850Ter)
|
rs1367760687
|
|
|
NM_001458.5(FLNC):c.2550+10C>A
|
|
|
|
NM_001458.5(FLNC):c.2550+10C>T
|
rs2128935820
|
|
|
NM_001458.5(FLNC):c.2550+14T>A
|
|
|
|
NM_001458.5(FLNC):c.2550+15_2550+18del
|
|
|
|
NM_001458.5(FLNC):c.2550+16G>C
|
|
|
|
NM_001458.5(FLNC):c.2550+17G>A
|
|
|
|
NM_001458.5(FLNC):c.2550+18T>C
|
|
|
|
NM_001458.5(FLNC):c.2550+1G>C
|
|
|
|
NM_001458.5(FLNC):c.2550+2T>C
|
rs113972676
|
|
|
NM_001458.5(FLNC):c.2550+3A>T
|
|
|
|
NM_001458.5(FLNC):c.2550+3dup
|
|
|
|
NM_001458.5(FLNC):c.2550+4C>G
|
|
|
|
NM_001458.5(FLNC):c.2550G>A (p.Gln850=)
|
rs1585158097
|
|
|
NM_001458.5(FLNC):c.2551-18A>G
|
|
|
|
NM_001458.5(FLNC):c.2551-3C>T
|
rs1293024920
|
|
|
NM_001458.5(FLNC):c.2551-7C>T
|
|
|
|
NM_001458.5(FLNC):c.2553G>T (p.Glu851Asp)
|
|
|
|
NM_001458.5(FLNC):c.2555T>C (p.Ile852Thr)
|
rs111482519
|
|
|
NM_001458.5(FLNC):c.2559C>T (p.Pro853=)
|
rs977635757
|
|
|
NM_001458.5(FLNC):c.2565C>G (p.Ser855Arg)
|
|
|
|
NM_001458.5(FLNC):c.2582T>G (p.Val861Gly)
|
rs749269317
|
|
|
NM_001458.5(FLNC):c.2587C>T (p.Pro863Ser)
|
rs754750752
|
|
|
NM_001458.5(FLNC):c.258C>T (p.Phe86=)
|
|
|
|
NM_001458.5(FLNC):c.2600C>T (p.Ala867Val)
|
rs1352861184
|
|
|
NM_001458.5(FLNC):c.2603_2604delinsT (p.Ser868fs)
|
rs1808416556
|
|
|
NM_001458.5(FLNC):c.2604C>A (p.Ser868Arg)
|
|
|
|
NM_001458.5(FLNC):c.2604C>G (p.Ser868Arg)
|
rs2128935920
|
|
|
NM_001458.5(FLNC):c.2604C>T (p.Ser868=)
|
|
|
|
NM_001458.5(FLNC):c.2604del (p.Ser868fs)
|
rs2128935921
|
|
|
NM_001458.5(FLNC):c.2608G>A (p.Val870Ile)
|
|
|
|
NM_001458.5(FLNC):c.2610C>G (p.Val870=)
|
rs2128935926
|
|
|
NM_001458.5(FLNC):c.2614G>T (p.Ala872Ser)
|
|
|
|
NM_001458.5(FLNC):c.2616C>G (p.Ala872=)
|
rs769947935
|
|
|
NM_001458.5(FLNC):c.2616C>T (p.Ala872=)
|
rs769947935
|
|
|
NM_001458.5(FLNC):c.2617G>T (p.Glu873Ter)
|
rs771092335
|
|
|
NM_001458.5(FLNC):c.261T>C (p.His87=)
|
|
|
|
NM_001458.5(FLNC):c.261del (p.Pro88fs)
|
rs2128932217
|
|
|
NM_001458.5(FLNC):c.2621G>A (p.Gly874Asp)
|
rs2128935929
|
|
|
NM_001458.5(FLNC):c.2622C>T (p.Gly874=)
|
rs777267184
|
|
|
NM_001458.5(FLNC):c.2624C>G (p.Pro875Arg)
|
rs1418979185
|
|
|
NM_001458.5(FLNC):c.2628G>T (p.Gly876=)
|
rs2128935936
|
|
|
NM_001458.5(FLNC):c.2630_2631insTCT (p.Leu877_Asn878insLeu)
|
|
|
|
NM_001458.5(FLNC):c.2631G>C (p.Leu877=)
|
rs2128935938
|
|
|
NM_001458.5(FLNC):c.2633A>G (p.Asn878Ser)
|
|
|
|
NM_001458.5(FLNC):c.2641+5G>C
|
rs2128935942
|
|
|
NM_001458.5(FLNC):c.2641+8_2641+11del
|
rs1808418675
|
|
|
NM_001458.5(FLNC):c.2641+9C>A
|
|
|
|
NM_001458.5(FLNC):c.2642-2dup
|
|
|
|
NM_001458.5(FLNC):c.2642-8G>T
|
rs2128935975
|
|
|
NM_001458.5(FLNC):c.2644G>A (p.Val882Met)
|
|
|
|
NM_001458.5(FLNC):c.2652C>G (p.Val884=)
|
rs369714355
|
|
|
NM_001458.5(FLNC):c.2652C>T (p.Val884=)
|
rs369714355
|
|
|
NM_001458.5(FLNC):c.2658G>A (p.Lys886=)
|
rs2128935981
|
|
|
NM_001458.5(FLNC):c.2664C>T (p.Thr888=)
|
|
|
|
NM_001458.5(FLNC):c.266G>A (p.Arg89His)
|
rs1554396410
|
|
|
NM_001458.5(FLNC):c.2670C>T (p.Phe890=)
|
|
|
|
NM_001458.5(FLNC):c.267C>T (p.Arg89=)
|
rs768740257
|
|
|
NM_001458.5(FLNC):c.2691C>A (p.Ala897=)
|
|
|
|
NM_001458.5(FLNC):c.2699C>T (p.Ala900Val)
|
|
|
|
NM_001458.5(FLNC):c.269C>G (p.Pro90Arg)
|
rs1807861341
|
|
|
NM_001458.5(FLNC):c.2700C>T (p.Ala900=)
|
|
|
|
NM_001458.5(FLNC):c.2701A>C (p.Lys901Gln)
|
rs2128935990
|
|
|
NM_001458.5(FLNC):c.2703G>T (p.Lys901Asn)
|
rs1554398845
|
|
|
NM_001458.5(FLNC):c.2706G>A (p.Leu902=)
|
|
|
|
NM_001458.5(FLNC):c.2707G>A (p.Asp903Asn)
|
rs781591239
|
|
|
NM_001458.5(FLNC):c.2707G>C (p.Asp903His)
|
|
|
|
NM_001458.5(FLNC):c.2710G>A (p.Val904Met)
|
rs1340231541
|
|
|
NM_001458.5(FLNC):c.2710G>T (p.Val904Leu)
|
|
|
|
NM_001458.5(FLNC):c.2711T>G (p.Val904Gly)
|
rs2128935993
|
|
|
NM_001458.5(FLNC):c.2714A>G (p.Gln905Arg)
|
|
|
|
NM_001458.5(FLNC):c.2718T>G (p.Phe906Leu)
|
|
|
|
NM_001458.5(FLNC):c.2724G>C (p.Gly908=)
|
rs1808426712
|
|
|
NM_001458.5(FLNC):c.272A>C (p.Asn91Thr)
|
rs886042565
|
|
|
NM_001458.5(FLNC):c.272A>G (p.Asn91Ser)
|
|
|
|
NM_001458.5(FLNC):c.2730C>G (p.Ala910=)
|
rs1585158635
|
|
|
NM_001458.5(FLNC):c.2731A>C (p.Lys911Gln)
|
|
|
|
NM_001458.5(FLNC):c.2734G>A (p.Gly912Ser)
|
rs1808427228
|
|
|
NM_001458.5(FLNC):c.2735G>A (p.Gly912Asp)
|
|
|
|
NM_001458.5(FLNC):c.2738A>G (p.Glu913Gly)
|
|
|
|
NM_001458.5(FLNC):c.273C>A (p.Asn91Lys)
|
rs1807861563
|
|
|
NM_001458.5(FLNC):c.273del (p.Phe92fs)
|
|
|
|
NM_001458.5(FLNC):c.2743_2753del (p.Val914_Val915insTer)
|
rs2128936006
|
|
|
NM_001458.5(FLNC):c.2745G>C (p.Val915=)
|
|
|
|
NM_001458.5(FLNC):c.2747G>T (p.Arg916Leu)
|
rs143720860
|
|
|
NM_001458.5(FLNC):c.2754_2755insC (p.Glu919fs)
|
rs2128936013
|
|
|
NM_001458.5(FLNC):c.2769C>T (p.Asn923=)
|
rs2128936016
|
|
|
NM_001458.5(FLNC):c.2771A>C (p.His924Pro)
|
|
|
|
NM_001458.5(FLNC):c.2772T>C (p.His924=)
|
rs1326134089
|
|
|
NM_001458.5(FLNC):c.2774A>T (p.Asp925Val)
|
|
|
|
NM_001458.5(FLNC):c.2776T>G (p.Tyr926Asp)
|
rs1808429467
|
|
|
NM_001458.5(FLNC):c.2779T>C (p.Ser927Pro)
|
|
|
|
NM_001458.5(FLNC):c.277C>T (p.Arg93Cys)
|
rs762326127
|
|
|
NM_001458.5(FLNC):c.2780C>A (p.Ser927Tyr)
|
rs1585158690
|
|
|
NM_001458.5(FLNC):c.2780_2782del (p.Ser927del)
|
rs1808429673
|
|
|
NM_001458.5(FLNC):c.2782T>A (p.Tyr928Asn)
|
rs1808429909
|
|
|
NM_001458.5(FLNC):c.2782T>C (p.Tyr928His)
|
rs1808429909
|
|
|
NM_001458.5(FLNC):c.2787del (p.Val930fs)
|
|
|
|
NM_001458.5(FLNC):c.2790C>G (p.Val930=)
|
|
|
|
NM_001458.5(FLNC):c.2794T>A (p.Tyr932Asn)
|
rs1808430365
|
|
|
NM_001458.5(FLNC):c.2797A>C (p.Thr933Pro)
|
rs2128936026
|
|
|
NM_001458.5(FLNC):c.2798C>G (p.Thr933Ser)
|
|
|
|
NM_001458.5(FLNC):c.2804_2807dup (p.Gln936fs)
|
|
|
|
NM_001458.5(FLNC):c.2807A>T (p.Gln936Leu)
|
rs2128936027
|
|
|
NM_001458.5(FLNC):c.2811+15T>C
|
|
|
|
NM_001458.5(FLNC):c.2811+1G>T
|
rs2128936028
|
|
|
NM_001458.5(FLNC):c.2811+20T>A
|
|
|
|
NM_001458.5(FLNC):c.2811+20T>C
|
|
|
|
NM_001458.5(FLNC):c.2811+3G>A
|
|
|
|
NM_001458.5(FLNC):c.2811+8C>A
|
|
|
|
NM_001458.5(FLNC):c.2812-12T>G
|
|
|
|
NM_001458.5(FLNC):c.2812-13T>C
|
|
|
|
NM_001458.5(FLNC):c.2812-15del
|
|
|
|
NM_001458.5(FLNC):c.2812-16C>A
|
rs754582909
|
|
|
NM_001458.5(FLNC):c.2812-20C>T
|
|
|
|
NM_001458.5(FLNC):c.2812-4A>G
|
|
|
|
NM_001458.5(FLNC):c.2812-8C>G
|
|
|
|
NM_001458.5(FLNC):c.2812-8C>T
|
|
|
|
NM_001458.5(FLNC):c.2813G>C (p.Gly938Ala)
|
|
|
|
NM_001458.5(FLNC):c.2815A>G (p.Asn939Asp)
|
|
|
|
NM_001458.5(FLNC):c.2816_2823dup (p.Val942fs)
|
rs2128936072
|
|
|
NM_001458.5(FLNC):c.2819T>A (p.Met940Lys)
|
rs2128936077
|
|
|
NM_001458.5(FLNC):c.2825T>C (p.Val942Ala)
|
rs1808440244
|
|
|
NM_001458.5(FLNC):c.2830G>A (p.Val944Met)
|
rs2128936081
|
|
|
NM_001458.5(FLNC):c.2832G>T (p.Val944=)
|
|
|
|
NM_001458.5(FLNC):c.2833A>G (p.Thr945Ala)
|
|
|
|
NM_001458.5(FLNC):c.2838T>A (p.Tyr946Ter)
|
rs769390195
|
|
|
NM_001458.5(FLNC):c.2840G>A (p.Gly947Asp)
|
|
|
|
NM_001458.5(FLNC):c.2844G>A (p.Gly948=)
|
|
|
|
NM_001458.5(FLNC):c.2845G>A (p.Asp949Asn)
|
rs761905908
|
|
|
NM_001458.5(FLNC):c.2845G>T (p.Asp949Tyr)
|
rs761905908
|
|
|
NM_001458.5(FLNC):c.2846del (p.Asp949fs)
|
rs2128936089
|
|
|
NM_001458.5(FLNC):c.2847C>A (p.Asp949Glu)
|
rs1808441944
|
|
|
NM_001458.5(FLNC):c.2847C>G (p.Asp949Glu)
|
rs1808441944
|
|
|
NM_001458.5(FLNC):c.2851G>T (p.Val951Phe)
|
rs760566825
|
|
|
NM_001458.5(FLNC):c.2855C>T (p.Pro952Leu)
|
|
|
|
NM_001458.5(FLNC):c.2856C>T (p.Pro952=)
|
rs2128936094
|
|
|
NM_001458.5(FLNC):c.2857A>G (p.Lys953Glu)
|
|
|
|
NM_001458.5(FLNC):c.2859G>A (p.Lys953=)
|
|
|
|
NM_001458.5(FLNC):c.2862C>G (p.Ser954Arg)
|
rs766581831
|
|
|
NM_001458.5(FLNC):c.2862C>T (p.Ser954=)
|
rs766581831
|
|
|
NM_001458.5(FLNC):c.2864_2865del (p.Pro955fs)
|
|
|
|
NM_001458.5(FLNC):c.2872del (p.Val957_Val958insTer)
|
rs1401551498
|
|
|
NM_001458.5(FLNC):c.2874G>C (p.Val958=)
|
rs754046100
|
|
|
NM_001458.5(FLNC):c.2876A>G (p.Asn959Ser)
|
|
|
|
NM_001458.5(FLNC):c.2879T>C (p.Val960Ala)
|
rs568452175
|
|
|
NM_001458.5(FLNC):c.2884C>T (p.Pro962Ser)
|
|
|
|
NM_001458.5(FLNC):c.2885C>A (p.Pro962His)
|
|
|
|
NM_001458.5(FLNC):c.288G>A (p.Lys96=)
|
rs2128932227
|
|
|
NM_001458.5(FLNC):c.2890C>A (p.Leu964Met)
|
rs1562996103
|
|
|
NM_001458.5(FLNC):c.2897T>C (p.Leu966Pro)
|
rs2128936106
|
|
|
NM_001458.5(FLNC):c.2898C>T (p.Leu966=)
|
|
|
|
NM_001458.5(FLNC):c.289C>T (p.Leu97=)
|
|
|
|
NM_001458.5(FLNC):c.2900G>A (p.Ser967Asn)
|
|
|
|
NM_001458.5(FLNC):c.2905del (p.Ile969fs)
|
rs2128936107
|
|
|
NM_001458.5(FLNC):c.2907C>G (p.Ile969Met)
|
|
|
|
NM_001458.5(FLNC):c.290T>C (p.Leu97Pro)
|
rs1585147935
|
|
|
NM_001458.5(FLNC):c.290T>G (p.Leu97Arg)
|
rs1585147935
|
|
|
NM_001458.5(FLNC):c.2911G>C (p.Val971Leu)
|
rs548199973
|
|
|
NM_001458.5(FLNC):c.2914C>T (p.Gln972Ter)
|
|
|
|
NM_001458.5(FLNC):c.2915A>G (p.Gln972Arg)
|
|
|
|
NM_001458.5(FLNC):c.2916G>A (p.Gln972=)
|
rs2128936110
|
|
|
NM_001458.5(FLNC):c.2917G>A (p.Gly973Ser)
|
rs2128936113
|
|
|
NM_001458.5(FLNC):c.2918del (p.Gly973fs)
|
|
|
|
NM_001458.5(FLNC):c.2919C>T (p.Gly973=)
|
|
|
|
NM_001458.5(FLNC):c.2929+10G>T
|
rs747678158
|
|
|
NM_001458.5(FLNC):c.2929+16G>C
|
|
|
|
NM_001458.5(FLNC):c.2929+18C>T
|
|
|
|
NM_001458.5(FLNC):c.2929+20C>A
|
|
|
|
NM_001458.5(FLNC):c.2929+2_2929+7del
|
rs2128936119
|
|
|
NM_001458.5(FLNC):c.2929+5G>A
|
|
|
|
NM_001458.5(FLNC):c.2929+5G>C
|
|
|
|
NM_001458.5(FLNC):c.2929+6T>G
|
rs2128936121
|
|
|
NM_001458.5(FLNC):c.2929+9G>T
|
rs1585159046
|
|
|
NM_001458.5(FLNC):c.292G>A (p.Glu98Lys)
|
rs1195481399
|
|
|
NM_001458.5(FLNC):c.2930-10C>T
|
rs2128936139
|
|
|
NM_001458.5(FLNC):c.2930-1G>A
|
|
|
|
NM_001458.5(FLNC):c.2930-4G>T
|
rs747623690
|
|
|
NM_001458.5(FLNC):c.2930-5C>G
|
rs371599113
|
|
|
NM_001458.5(FLNC):c.2930-7C>A
|
rs1324607570
|
|
|
NM_001458.5(FLNC):c.2930-7C>T
|
|
|
|
NM_001458.5(FLNC):c.2930-9_2930-7dup
|
|
|
|
NM_001458.5(FLNC):c.2931_2938dup (p.Val980fs)
|
|
|
|
NM_001458.5(FLNC):c.2935G>A (p.Ala979Thr)
|
|
|
|
NM_001458.5(FLNC):c.2938G>C (p.Val980Leu)
|
|
|
|
NM_001458.5(FLNC):c.2943A>G (p.Gly981=)
|
rs759397444
|
|
|
NM_001458.5(FLNC):c.2946G>A (p.Gln982=)
|
|
|
|
NM_001458.5(FLNC):c.2950C>T (p.Gln984Ter)
|
rs769865678
|
|
|
NM_001458.5(FLNC):c.2953G>A (p.Ala985Thr)
|
rs1179474749
|
|
|
NM_001458.5(FLNC):c.2958C>T (p.Phe986=)
|
|
|
|
NM_001458.5(FLNC):c.2961T>C (p.Ser987=)
|
rs2128936155
|
|
|
NM_001458.5(FLNC):c.2964G>A (p.Val988=)
|
|
|
|
NM_001458.5(FLNC):c.2967C>T (p.Asn989=)
|
rs775727204
|
|
|
NM_001458.5(FLNC):c.2971C>A (p.Arg991=)
|
rs886037830
|
|
|
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter)
|
rs886037830
|
|
|
NM_001458.5(FLNC):c.2972G>A (p.Arg991Gln)
|
|
|
|
NM_001458.5(FLNC):c.2975G>A (p.Gly992Glu)
|
rs1419637272
|
|
|
NM_001458.5(FLNC):c.2977del (p.Ala993fs)
|
|
|
|
NM_001458.5(FLNC):c.2978C>T (p.Ala993Val)
|
rs2128936160
|
|
|
NM_001458.5(FLNC):c.297C>G (p.Asn99Lys)
|
|
|
|
NM_001458.5(FLNC):c.2981G>T (p.Gly994Val)
|
|
|
|
NM_001458.5(FLNC):c.2982C>G (p.Gly994=)
|
rs947174901
|
|
|
NM_001458.5(FLNC):c.2984G>A (p.Gly995Asp)
|
rs1808452430
|
|
|
NM_001458.5(FLNC):c.2991C>T (p.Gly997=)
|
|
|
|
NM_001458.5(FLNC):c.3005G>T (p.Arg1002Leu)
|
|
|
|
NM_001458.5(FLNC):c.3006G>C (p.Arg1002=)
|
rs61737781
|
|
|
NM_001458.5(FLNC):c.3007A>C (p.Met1003Leu)
|
rs1808453806
|
|
|
NM_001458.5(FLNC):c.300_301dup (p.Ser101fs)
|
|
|
|
NM_001458.5(FLNC):c.3019del (p.Ser1007fs)
|
rs2128936173
|
|
|
NM_001458.5(FLNC):c.301T>C (p.Ser101Pro)
|
|
|
|
NM_001458.5(FLNC):c.301_302delinsAA (p.Ser101Asn)
|
rs2128932233
|
|
|
NM_001458.5(FLNC):c.3022C>A (p.Arg1008Ser)
|
|
|
|
NM_001458.5(FLNC):c.3023G>A (p.Arg1008His)
|
rs777492254
|
|
|
NM_001458.5(FLNC):c.3023G>T (p.Arg1008Leu)
|
|
|
|
NM_001458.5(FLNC):c.3025C>G (p.Arg1009Gly)
|
|
|
|
NM_001458.5(FLNC):c.3025C>T (p.Arg1009Trp)
|
|
|
|
NM_001458.5(FLNC):c.3026G>A (p.Arg1009Gln)
|
rs375445167
|
|
|
NM_001458.5(FLNC):c.3026G>T (p.Arg1009Leu)
|
|
|
|
NM_001458.5(FLNC):c.302C>T (p.Ser101Phe)
|
rs1554396416
|
|
|
NM_001458.5(FLNC):c.3032T>C (p.Ile1011Thr)
|
rs1808454823
|
|
|
NM_001458.5(FLNC):c.3033C>T (p.Ile1011=)
|
rs757092972
|
|
|
NM_001458.5(FLNC):c.3052G>A (p.Gly1018Ser)
|
rs2128936181
|
|
|
NM_001458.5(FLNC):c.3054C>A (p.Gly1018=)
|
rs769624093
|
|
|
NM_001458.5(FLNC):c.3055G>A (p.Gly1019Ser)
|
rs200864007
|
|
|
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys)
|
rs200864007
|
|
|
NM_001458.5(FLNC):c.3056G>A (p.Gly1019Asp)
|
|
|
|
NM_001458.5(FLNC):c.3057T>C (p.Gly1019=)
|
rs2128936183
|
|
|
NM_001458.5(FLNC):c.3058G>A (p.Gly1020Arg)
|
rs2128936185
|
|
|
NM_001458.5(FLNC):c.3065A>C (p.Glu1022Ala)
|
rs1808455747
|
|
|
NM_001458.5(FLNC):c.3067G>A (p.Ala1023Thr)
|
rs376107866
|
|
|
NM_001458.5(FLNC):c.306G>A (p.Val102=)
|
|
|
|
NM_001458.5(FLNC):c.3070C>T (p.Gln1024Ter)
|
rs2128936189
|
|
|
NM_001458.5(FLNC):c.3076G>A (p.Val1026Met)
|
rs1808456380
|
|
|
NM_001458.5(FLNC):c.3081C>A (p.Arg1027=)
|
rs1554399030
|
|
|
NM_001458.5(FLNC):c.3084C>A (p.Tyr1028Ter)
|
rs761978559
|
|
|
NM_001458.5(FLNC):c.3084del (p.Arg1027_Tyr1028insTer)
|
|
|
|
NM_001458.5(FLNC):c.3088C>A (p.Pro1030Thr)
|
rs1554399034
|
|
|
NM_001458.5(FLNC):c.3088C>T (p.Pro1030Ser)
|
|
|
|
NM_001458.5(FLNC):c.3089C>G (p.Pro1030Arg)
|
rs2128936198
|
|
|
NM_001458.5(FLNC):c.3092C>A (p.Pro1031Gln)
|
rs372467579
|
|
|
NM_001458.5(FLNC):c.3092C>G (p.Pro1031Arg)
|
rs372467579
|
|
|
NM_001458.5(FLNC):c.3092C>T (p.Pro1031Leu)
|
rs372467579
|
|
|
NM_001458.5(FLNC):c.3092del (p.Pro1031fs)
|
|
|
|
NM_001458.5(FLNC):c.3096G>C (p.Glu1032Asp)
|
|
|
|
NM_001458.5(FLNC):c.3099G>A (p.Glu1033=)
|
|
|
|
NM_001458.5(FLNC):c.3107A>C (p.Tyr1036Ser)
|
|
|
|
NM_001458.5(FLNC):c.3108C>A (p.Tyr1036Ter)
|
|
|
|
NM_001458.5(FLNC):c.3109A>G (p.Lys1037Glu)
|
|
|
|
NM_001458.5(FLNC):c.3111G>A (p.Lys1037=)
|
rs1808458398
|
|
|
NM_001458.5(FLNC):c.3114G>A (p.Val1038=)
|
rs376516180
|
|
|
NM_001458.5(FLNC):c.3115G>A (p.Asp1039Asn)
|
rs1808458838
|
|
|
NM_001458.5(FLNC):c.3118A>T (p.Ile1040Phe)
|
|
|
|
NM_001458.5(FLNC):c.3122C>G (p.Thr1041Ser)
|
|
|
|
NM_001458.5(FLNC):c.3122C>T (p.Thr1041Ile)
|
rs557380928
|
|
|
NM_001458.5(FLNC):c.3129T>C (p.Asp1043=)
|
rs1160980989
|
|
|
NM_001458.5(FLNC):c.3135C>T (p.His1045=)
|
rs988307328
|
|
|
NM_001458.5(FLNC):c.3136C>G (p.Pro1046Ala)
|
rs749099313
|
|
|
NM_001458.5(FLNC):c.3138G>C (p.Pro1046=)
|
|
|
|
NM_001458.5(FLNC):c.3141G>C (p.Val1047=)
|
rs1554399057
|
|
|
NM_001458.5(FLNC):c.3142C>T (p.Pro1048Ser)
|
|
|
|
NM_001458.5(FLNC):c.3143C>T (p.Pro1048Leu)
|
rs2128936216
|
|
|
NM_001458.5(FLNC):c.3145_3146delinsTT (p.Gly1049Phe)
|
rs1585159401
|
|
|
NM_001458.5(FLNC):c.3151C>T (p.Pro1051Ser)
|
|
|
|
NM_001458.5(FLNC):c.3153G>T (p.Pro1051=)
|
rs373694043
|
|
|
NM_001458.5(FLNC):c.3160G>A (p.Val1054Met)
|
|
|
|
NM_001458.5(FLNC):c.3161_3174del (p.Val1054fs)
|
|
|
|
NM_001458.5(FLNC):c.3166G>A (p.Gly1056Ser)
|
rs1287987501
|
|
|
NM_001458.5(FLNC):c.3167G>A (p.Gly1056Asp)
|
rs763807492
|
|
|
NM_001458.5(FLNC):c.3171C>G (p.Val1057=)
|
|
|
|
NM_001458.5(FLNC):c.3175C>G (p.Pro1059Ala)
|
rs767119310
|
|
|
NM_001458.5(FLNC):c.3177C>T (p.Pro1059=)
|
|
|
|
NM_001458.5(FLNC):c.3178C>G (p.Pro1060Ala)
|
rs2128936236
|
|
|
NM_001458.5(FLNC):c.3179del (p.Pro1060fs)
|
|
|
|
NM_001458.5(FLNC):c.3180del (p.Asp1061fs)
|
rs1064795229
|
|
|
NM_001458.5(FLNC):c.3187T>C (p.Ser1063Pro)
|
|
|
|
NM_001458.5(FLNC):c.3192+16C>T
|
|
|
|
NM_001458.5(FLNC):c.3192+17T>C
|
rs2128936246
|
|
|
NM_001458.5(FLNC):c.3192+19G>A
|
rs1162838049
|
|
|
NM_001458.5(FLNC):c.3193-13C>T
|
|
|
|
NM_001458.5(FLNC):c.3193-17C>A
|
|
|
|
NM_001458.5(FLNC):c.3193-18A>G
|
|
|
|
NM_001458.5(FLNC):c.3193-2A>G
|
rs749889670
|
|
|
NM_001458.5(FLNC):c.3193-5C>T
|
rs1808477946
|
|
|
NM_001458.5(FLNC):c.3193-9T>G
|
|
|
|
NM_001458.5(FLNC):c.31G>T (p.Gly11Cys)
|
rs370512642
|
|
|
NM_001458.5(FLNC):c.3201T>C (p.Ala1067=)
|
rs760214102
|
|
|
NM_001458.5(FLNC):c.3210G>A (p.Pro1070=)
|
|
|
|
NM_001458.5(FLNC):c.3217A>C (p.Lys1073Gln)
|
rs2128936345
|
|
|
NM_001458.5(FLNC):c.3221dup (p.Gly1075fs)
|
rs2128936346
|
|
|
NM_001458.5(FLNC):c.3234C>T (p.Gly1078=)
|
rs1808479678
|
|
|
NM_001458.5(FLNC):c.3236C>A (p.Thr1079Asn)
|
rs2128936356
|
|
|
NM_001458.5(FLNC):c.3238C>T (p.Pro1080Ser)
|
rs950648783
|
|
|
NM_001458.5(FLNC):c.3241G>T (p.Ala1081Ser)
|
rs781760817
|
|
|
NM_001458.5(FLNC):c.3243G>T (p.Ala1081=)
|
rs534482249
|
|
|
NM_001458.5(FLNC):c.3246A>G (p.Pro1082=)
|
|
|
|
NM_001458.5(FLNC):c.3247T>A (p.Phe1083Ile)
|
rs1354409050
|
|
|
NM_001458.5(FLNC):c.3247T>C (p.Phe1083Leu)
|
rs1354409050
|
|
|
NM_001458.5(FLNC):c.3256G>A (p.Asp1086Asn)
|
rs369398096
|
|
|
NM_001458.5(FLNC):c.3257_3258delinsTA (p.Asp1086Val)
|
rs2128936367
|
|
|
NM_001458.5(FLNC):c.325C>A (p.Arg109Ser)
|
rs2128932240
|
|
|
NM_001458.5(FLNC):c.3264G>A (p.Lys1088=)
|
rs1808481662
|
|
|
NM_001458.5(FLNC):c.3265G>A (p.Gly1089Arg)
|
rs1554399171
|
|
|
NM_001458.5(FLNC):c.3267G>T (p.Gly1089=)
|
|
|
|
NM_001458.5(FLNC):c.3275C>A (p.Thr1092Lys)
|
rs1405189650
|
|
|
NM_001458.5(FLNC):c.3278G>A (p.Gly1093Asp)
|
rs1374868566
|
|
|
NM_001458.5(FLNC):c.3285G>A (p.Leu1095=)
|
|
|
|
NM_001458.5(FLNC):c.3289C>T (p.Leu1097=)
|
rs1585159939
|
|
|
NM_001458.5(FLNC):c.328G>A (p.Glu110Lys)
|
|
|
|
NM_001458.5(FLNC):c.3303C>T (p.Gly1101=)
|
rs568106945
|
|
|
NM_001458.5(FLNC):c.3307_3313del (p.Cys1103fs)
|
rs2128936386
|
|
|
NM_001458.5(FLNC):c.3308G>A (p.Cys1103Tyr)
|
rs1238364459
|
|
|
NM_001458.5(FLNC):c.3309C>T (p.Cys1103=)
|
|
|
|
NM_001458.5(FLNC):c.3312G>A (p.Glu1104=)
|
|
|
|
NM_001458.5(FLNC):c.3322G>A (p.Glu1108Lys)
|
rs781352216
|
|
|
NM_001458.5(FLNC):c.3324G>A (p.Glu1108=)
|
|
|
|
NM_001458.5(FLNC):c.332A>G (p.His111Arg)
|
|
|
|
NM_001458.5(FLNC):c.3339T>G (p.Gly1113=)
|
rs756592172
|
|
|
NM_001458.5(FLNC):c.3342T>C (p.Asp1114=)
|
rs2128936400
|
|
|
NM_001458.5(FLNC):c.3343G>T (p.Gly1115Cys)
|
|
|
|
NM_001458.5(FLNC):c.3344G>A (p.Gly1115Asp)
|
rs2128936401
|
|
|
NM_001458.5(FLNC):c.3349T>C (p.Cys1117Arg)
|
|
|
|
NM_001458.5(FLNC):c.3349T>G (p.Cys1117Gly)
|
|
|
|
NM_001458.5(FLNC):c.3350G>T (p.Cys1117Phe)
|
|
|
|
NM_001458.5(FLNC):c.3354T>C (p.Ala1118=)
|
rs2128936403
|
|
|
NM_001458.5(FLNC):c.3358A>G (p.Ser1120Gly)
|
rs749637616
|
|
|
NM_001458.5(FLNC):c.3366G>A (p.Leu1122=)
|
|
|
|
NM_001458.5(FLNC):c.3371C>A (p.Thr1124Lys)
|
rs375013141
|
|
|
NM_001458.5(FLNC):c.3371C>T (p.Thr1124Met)
|
rs375013141
|
|
|
NM_001458.5(FLNC):c.3377C>G (p.Pro1126Arg)
|
rs1808488088
|
|
|
NM_001458.5(FLNC):c.3381C>A (p.Gly1127=)
|
rs1052000080
|
|
|
NM_001458.5(FLNC):c.3384G>A (p.Glu1128=)
|
rs2128936416
|
|
|
NM_001458.5(FLNC):c.338A>G (p.Lys113Arg)
|
|
|
|
NM_001458.5(FLNC):c.338del (p.Lys113fs)
|
|
|
|
NM_001458.5(FLNC):c.3391A>G (p.Ile1131Val)
|
rs773110786
|
|
|
NM_001458.5(FLNC):c.3395A>G (p.Asn1132Ser)
|
rs2128936421
|
|
|
NM_001458.5(FLNC):c.33C>A (p.Gly11=)
|
|
|
|
NM_001458.5(FLNC):c.33C>T (p.Gly11=)
|
|
|
|
NM_001458.5(FLNC):c.3402G>A (p.Leu1134=)
|
|
|
|
NM_001458.5(FLNC):c.3405T>G (p.Phe1135Leu)
|
|
|
|
NM_001458.5(FLNC):c.3414C>T (p.Ala1138=)
|
rs751401489
|
|
|
NM_001458.5(FLNC):c.3415C>T (p.His1139Tyr)
|
rs1562996847
|
|
|
NM_001458.5(FLNC):c.3415del (p.His1139fs)
|
rs1808489575
|
|
|
NM_001458.5(FLNC):c.3417C>T (p.His1139=)
|
|
|
|
NM_001458.5(FLNC):c.3418A>G (p.Ile1140Val)
|
rs2128936425
|
|
|
NM_001458.5(FLNC):c.341T>C (p.Leu114Pro)
|
rs1807864684
|
|
|
NM_001458.5(FLNC):c.342C>G (p.Leu114=)
|
|
|
|
NM_001458.5(FLNC):c.3430C>T (p.Pro1144Ser)
|
rs1585160095
|
|
|
NM_001458.5(FLNC):c.3431C>T (p.Pro1144Leu)
|
rs200723434
|
|
|
NM_001458.5(FLNC):c.3431_3432delinsGT (p.Pro1144Arg)
|
|
|
|
NM_001458.5(FLNC):c.3443C>G (p.Thr1148Ser)
|
|
|
|
NM_001458.5(FLNC):c.3443C>T (p.Thr1148Ile)
|
rs2128936430
|
|
|
NM_001458.5(FLNC):c.3448C>A (p.Arg1150=)
|
rs779184516
|
|
|
NM_001458.5(FLNC):c.3448C>G (p.Arg1150Gly)
|
rs779184516
|
|
|
NM_001458.5(FLNC):c.3448C>T (p.Arg1150Trp)
|
rs779184516
|
|
|
NM_001458.5(FLNC):c.3451C>T (p.Pro1151Ser)
|
|
|
|
NM_001458.5(FLNC):c.3454G>T (p.Val1152Leu)
|
rs1396046243
|
|
|
NM_001458.5(FLNC):c.3456G>A (p.Val1152=)
|
|
|
|
NM_001458.5(FLNC):c.3458T>A (p.Phe1153Tyr)
|
|
|
|
NM_001458.5(FLNC):c.345G>A (p.Val115=)
|
|
|
|
NM_001458.5(FLNC):c.3463C>G (p.Pro1155Ala)
|
rs745361779
|
|
|
NM_001458.5(FLNC):c.3465G>A (p.Pro1155=)
|
rs374686347
|
|
|
NM_001458.5(FLNC):c.3465G>C (p.Pro1155=)
|
|
|
|
NM_001458.5(FLNC):c.3465G>T (p.Pro1155=)
|
|
|
|
NM_001458.5(FLNC):c.3468C>T (p.Ser1156=)
|
|
|
|
NM_001458.5(FLNC):c.3475C>G (p.Arg1159Gly)
|
rs760500171
|
|
|
NM_001458.5(FLNC):c.3482_3483delinsTC (p.Ser1161Ile)
|
|
|
|
NM_001458.5(FLNC):c.3483T>C (p.Ser1161=)
|
|
|
|
NM_001458.5(FLNC):c.3488C>A (p.Pro1163Gln)
|
rs377489161
|
|
|
NM_001458.5(FLNC):c.3489G>A (p.Pro1163=)
|
rs369853278
|
|
|
NM_001458.5(FLNC):c.3489G>C (p.Pro1163=)
|
rs369853278
|
|
|
NM_001458.5(FLNC):c.3502G>T (p.Gly1168Cys)
|
rs199814952
|
|
|
NM_001458.5(FLNC):c.3507G>C (p.Lys1169Asn)
|
|
|
|
NM_001458.5(FLNC):c.3510C>G (p.Val1170=)
|
rs745571747
|
|
|
NM_001458.5(FLNC):c.3511G>T (p.Gly1171Cys)
|
rs769490872
|
|
|
NM_001458.5(FLNC):c.3512G>A (p.Gly1171Asp)
|
rs1298622480
|
|
|
NM_001458.5(FLNC):c.3512G>T (p.Gly1171Val)
|
|
|
|
NM_001458.5(FLNC):c.3516G>T (p.Glu1172Asp)
|
|
|
|
NM_001458.5(FLNC):c.3518C>T (p.Ala1173Val)
|
rs1229255608
|
|
|
NM_001458.5(FLNC):c.352+12G>A
|
|
|
|
NM_001458.5(FLNC):c.352+13G>A
|
|
|
|
NM_001458.5(FLNC):c.352+18G>A
|
|
|
|
NM_001458.5(FLNC):c.352+1G>T
|
|
|
|
NM_001458.5(FLNC):c.352+8C>A
|
|
|
|
NM_001458.5(FLNC):c.352+8C>T
|
|
|
|
NM_001458.5(FLNC):c.352+9C>T
|
rs749553028
|
|
|
NM_001458.5(FLNC):c.352G>A (p.Asp118Asn)
|
|
|
|
NM_001458.5(FLNC):c.353-11C>A
|
|
|
|
NM_001458.5(FLNC):c.353-11C>T
|
rs372623958
|
|
|
NM_001458.5(FLNC):c.353-13C>T
|
rs982648846
|
|
|
NM_001458.5(FLNC):c.353-14C>G
|
|
|
|
NM_001458.5(FLNC):c.353-18G>C
|
|
|
|
NM_001458.5(FLNC):c.353-9C>T
|
rs778957130
|
|
|
NM_001458.5(FLNC):c.3538T>C (p.Cys1180Arg)
|
|
|
|
NM_001458.5(FLNC):c.3539G>C (p.Cys1180Ser)
|
|
|
|
NM_001458.5(FLNC):c.3539G>T (p.Cys1180Phe)
|
rs1319931619
|
|
|
NM_001458.5(FLNC):c.3541T>C (p.Ser1181Pro)
|
rs2128936467
|
|
|
NM_001458.5(FLNC):c.3552C>T (p.Gly1184=)
|
|
|
|
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val)
|
rs1114167361
|
|
|
NM_001458.5(FLNC):c.3564G>A (p.Leu1188=)
|
rs761683129
|
|
|
NM_001458.5(FLNC):c.3568A>G (p.Ile1190Val)
|
rs1259241248
|
|
|
NM_001458.5(FLNC):c.356G>T (p.Ser119Ile)
|
|
|
|
NM_001458.5(FLNC):c.3572A>G (p.Glu1191Gly)
|
rs772055432
|
|
|
NM_001458.5(FLNC):c.3581C>T (p.Ser1194Leu)
|
rs773481064
|
|
|
NM_001458.5(FLNC):c.3587C>T (p.Ala1196Val)
|
|
|
|
NM_001458.5(FLNC):c.3599C>T (p.Ala1200Val)
|
|
|
|
NM_001458.5(FLNC):c.3601G>A (p.Glu1201Lys)
|
rs751963297
|
|
|
NM_001458.5(FLNC):c.3601G>C (p.Glu1201Gln)
|
rs751963297
|
|
|
NM_001458.5(FLNC):c.3603G>A (p.Glu1201=)
|
rs755671727
|
|
|
NM_001458.5(FLNC):c.3606G>A (p.Val1202=)
|
rs374499671
|
|
|
NM_001458.5(FLNC):c.3615C>T (p.His1205=)
|
rs1554399300
|
|
|
NM_001458.5(FLNC):c.3618C>A (p.Asn1206Lys)
|
rs1039623010
|
|
|
NM_001458.5(FLNC):c.3618C>T (p.Asn1206=)
|
rs1039623010
|
|
|
NM_001458.5(FLNC):c.3621C>G (p.Asn1207Lys)
|
rs117864464
|
|
|
NM_001458.5(FLNC):c.3629G>A (p.Gly1210Asp)
|
|
|
|
NM_001458.5(FLNC):c.3630C>A (p.Gly1210=)
|
rs771020495
|
|
|
NM_001458.5(FLNC):c.3639C>T (p.His1213=)
|
rs2128936499
|
|
|
NM_001458.5(FLNC):c.363C>T (p.Ala121=)
|
rs2128933604
|
|
|
NM_001458.5(FLNC):c.3643A>C (p.Thr1215Pro)
|
rs2128936501
|
|
|
NM_001458.5(FLNC):c.3645C>A (p.Thr1215=)
|
|
|
|
NM_001458.5(FLNC):c.3656C>T (p.Ala1219Val)
|
rs775551445
|
|
|
NM_001458.5(FLNC):c.365T>C (p.Ile122Thr)
|
rs2128933606
|
|
|
NM_001458.5(FLNC):c.3663T>C (p.Pro1221=)
|
rs369734958
|
|
|
NM_001458.5(FLNC):c.3670_3671dup (p.Ile1226fs)
|
rs1808505973
|
|
|
NM_001458.5(FLNC):c.3671A>G (p.Tyr1224Cys)
|
|
|
|
NM_001458.5(FLNC):c.3676A>G (p.Ile1226Val)
|
rs1808506817
|
|
|
NM_001458.5(FLNC):c.3679dup (p.Thr1227fs)
|
|
|
|
NM_001458.5(FLNC):c.3687G>A (p.Lys1229=)
|
rs1585160379
|
|
|
NM_001458.5(FLNC):c.3689A>C (p.Tyr1230Ser)
|
|
|
|
NM_001458.5(FLNC):c.3689A>G (p.Tyr1230Cys)
|
rs863225116
|
|
|
NM_001458.5(FLNC):c.3692G>A (p.Gly1231Asp)
|
rs1808507457
|
|
|
NM_001458.5(FLNC):c.3693C>T (p.Gly1231=)
|
rs765922145
|
|
|
NM_001458.5(FLNC):c.3693_3695dup (p.Gly1232dup)
|
rs1808507351
|
|
|
NM_001458.5(FLNC):c.3694G>A (p.Gly1232Arg)
|
rs754533053
|
|
|
NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs)
|
rs2128936511
|
|
|
NM_001458.5(FLNC):c.3699del (p.Val1235fs)
|
rs1808508148
|
|
|
NM_001458.5(FLNC):c.3700C>T (p.Pro1234Ser)
|
|
|
|
NM_001458.5(FLNC):c.3702del (p.Val1235fs)
|
rs2128936516
|
|
|
NM_001458.5(FLNC):c.3703G>A (p.Val1235Met)
|
rs1208885010
|
|
|
NM_001458.5(FLNC):c.3703G>T (p.Val1235Leu)
|
|
|
|
NM_001458.5(FLNC):c.370G>T (p.Asp124Tyr)
|
rs1808053038
|
|
|
NM_001458.5(FLNC):c.3711A>C (p.Lys1237Asn)
|
rs758220780
|
|
|
NM_001458.5(FLNC):c.3711del (p.Lys1237fs)
|
rs2128936518
|
|
|
NM_001458.5(FLNC):c.3713T>C (p.Phe1238Ser)
|
rs777798089
|
|
|
NM_001458.5(FLNC):c.3713T>G (p.Phe1238Cys)
|
rs777798089
|
|
|
NM_001458.5(FLNC):c.3717C>T (p.Pro1239=)
|
|
|
|
NM_001458.5(FLNC):c.371A>C (p.Asp124Ala)
|
|
|
|
NM_001458.5(FLNC):c.3723T>C (p.Arg1241=)
|
|
|
|
NM_001458.5(FLNC):c.3725T>C (p.Val1242Ala)
|
|
|
|
NM_001458.5(FLNC):c.3730G>T (p.Val1244Leu)
|
|
|
|
NM_001458.5(FLNC):c.3732G>A (p.Val1244=)
|
|
|
|
NM_001458.5(FLNC):c.3733_3737dup (p.Ala1247fs)
|
|
|
|
NM_001458.5(FLNC):c.3741G>A (p.Ala1247=)
|
|
|
|
NM_001458.5(FLNC):c.3741G>C (p.Ala1247=)
|
rs763047367
|
|
|
NM_001458.5(FLNC):c.3753T>C (p.Ser1251=)
|
rs1228635169
|
|
|
NM_001458.5(FLNC):c.3761A>C (p.Lys1254Thr)
|
|
|
|
NM_001458.5(FLNC):c.3765C>A (p.Val1255=)
|
rs556428588
|
|
|
NM_001458.5(FLNC):c.3765C>G (p.Val1255=)
|
rs556428588
|
|
|
NM_001458.5(FLNC):c.3781G>C (p.Glu1261Gln)
|
rs747033771
|
|
|
NM_001458.5(FLNC):c.3783G>A (p.Glu1261=)
|
rs1585160512
|
|
|
NM_001458.5(FLNC):c.3790+14A>G
|
|
|
|
NM_001458.5(FLNC):c.3790+15G>C
|
|
|
|
NM_001458.5(FLNC):c.3790+16del
|
|
|
|
NM_001458.5(FLNC):c.3790+5G>C
|
rs199917473
|
|
|
NM_001458.5(FLNC):c.3790G>T (p.Gly1264Cys)
|
rs201335143
|
|
|
NM_001458.5(FLNC):c.3791-14C>T
|
|
|
|
NM_001458.5(FLNC):c.3798G>A (p.Leu1266=)
|
rs755949518
|
|
|
NM_001458.5(FLNC):c.3798G>T (p.Leu1266=)
|
rs755949518
|
|
|
NM_001458.5(FLNC):c.3799C>G (p.Arg1267Gly)
|
rs371483562
|
|
|
NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp)
|
rs371483562
|
|
|
NM_001458.5(FLNC):c.37G>A (p.Gly13Ser)
|
rs760318519
|
|
|
NM_001458.5(FLNC):c.37G>C (p.Gly13Arg)
|
rs760318519
|
|
|
NM_001458.5(FLNC):c.3803A>G (p.Glu1268Gly)
|
rs1585161164
|
|
|
NM_001458.5(FLNC):c.3805G>T (p.Val1269Leu)
|
rs1808547668
|
|
|
NM_001458.5(FLNC):c.3807G>A (p.Val1269=)
|
rs1585161170
|
|
|
NM_001458.5(FLNC):c.3815A>G (p.Glu1272Gly)
|
|
|
|
NM_001458.5(FLNC):c.3822T>C (p.Thr1274=)
|
rs1172843229
|
|
|
NM_001458.5(FLNC):c.3829G>A (p.Ala1277Thr)
|
rs1808548777
|
|
|
NM_001458.5(FLNC):c.3829G>T (p.Ala1277Ser)
|
rs1808548777
|
|
|
NM_001458.5(FLNC):c.3833G>C (p.Arg1278Thr)
|
rs540117605
|
|
|
NM_001458.5(FLNC):c.3835T>C (p.Ser1279Pro)
|
rs1562997744
|
|
|
NM_001458.5(FLNC):c.3836C>T (p.Ser1279Phe)
|
|
|
|
NM_001458.5(FLNC):c.3842C>T (p.Thr1281Ile)
|
rs776862347
|
|
|
NM_001458.5(FLNC):c.384G>A (p.Lys128=)
|
rs1402021655
|
|
|
NM_001458.5(FLNC):c.3854del (p.Gly1285fs)
|
rs1808550611
|
|
|
NM_001458.5(FLNC):c.3859_3866del (p.His1287fs)
|
|
|
|
NM_001458.5(FLNC):c.385C>G (p.Leu129Val)
|
|
|
|
NM_001458.5(FLNC):c.3862G>A (p.Val1288Met)
|
rs750415476
|
|
|
NM_001458.5(FLNC):c.3862G>C (p.Val1288Leu)
|
rs750415476
|
|
|
NM_001458.5(FLNC):c.3863_3867dup (p.Ala1290Ter)
|
|
|
|
NM_001458.5(FLNC):c.3864G>A (p.Val1288=)
|
rs2128936748
|
|
|
NM_001458.5(FLNC):c.3866C>A (p.Thr1289Lys)
|
|
|
|
NM_001458.5(FLNC):c.3871C>G (p.Arg1291Gly)
|
rs753591663
|
|
|
NM_001458.5(FLNC):c.3879C>T (p.Leu1293=)
|
|
|
|
NM_001458.5(FLNC):c.387G>A (p.Leu129=)
|
rs1159200587
|
|
|
NM_001458.5(FLNC):c.3881A>G (p.Asn1294Ser)
|
rs944103680
|
|
|
NM_001458.5(FLNC):c.3881A>T (p.Asn1294Ile)
|
rs944103680
|
|
|
NM_001458.5(FLNC):c.3882C>G (p.Asn1294Lys)
|
rs1808552408
|
|
|
NM_001458.5(FLNC):c.3883C>G (p.Pro1295Ala)
|
|
|
|
NM_001458.5(FLNC):c.3885C>A (p.Pro1295=)
|
|
|
|
NM_001458.5(FLNC):c.3887C>G (p.Ser1296Trp)
|
rs747587140
|
|
|
NM_001458.5(FLNC):c.3888G>A (p.Ser1296=)
|
|
|
|
NM_001458.5(FLNC):c.389T>A (p.Ile130Asn)
|
|
|
|
NM_001458.5(FLNC):c.3903C>T (p.Asp1301=)
|
rs777004360
|
|
|
NM_001458.5(FLNC):c.3905C>T (p.Thr1302Ile)
|
rs746249435
|
|
|
NM_001458.5(FLNC):c.3905_3919dup (p.Thr1302_Asp1306dup)
|
rs756167665
|
|
|
NM_001458.5(FLNC):c.3908A>T (p.Tyr1303Phe)
|
rs1808553804
|
|
|
NM_001458.5(FLNC):c.3909T>A (p.Tyr1303Ter)
|
|
|
|
NM_001458.5(FLNC):c.3919A>G (p.Asn1307Asp)
|
rs1808554442
|
|
|
NM_001458.5(FLNC):c.3920A>G (p.Asn1307Ser)
|
|
|
|
NM_001458.5(FLNC):c.3921T>C (p.Asn1307=)
|
rs369198655
|
|
|
NM_001458.5(FLNC):c.3933_3937del (p.Tyr1312fs)
|
rs1808555459
|
|
|
NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs)
|
rs1554399513
|
|
|
NM_001458.5(FLNC):c.3936C>T (p.Tyr1312=)
|
|
|
|
NM_001458.5(FLNC):c.3937C>A (p.Arg1313=)
|
rs766330686
|
|
|
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter)
|
rs766330686
|
|
|
NM_001458.5(FLNC):c.3938G>C (p.Arg1313Pro)
|
rs199804244
|
|
|
NM_001458.5(FLNC):c.3943C>T (p.Gln1315Ter)
|
|
|
|
NM_001458.5(FLNC):c.3944del (p.Gln1315fs)
|
|
|
|
NM_001458.5(FLNC):c.3947A>G (p.Tyr1316Cys)
|
rs2128936781
|
|
|
NM_001458.5(FLNC):c.3949_3950del (p.Thr1317fs)
|
|
|
|
NM_001458.5(FLNC):c.3950C>G (p.Thr1317Ser)
|
|
|
|
NM_001458.5(FLNC):c.3952G>A (p.Ala1318Thr)
|
rs777939926
|
|
|
NM_001458.5(FLNC):c.3952G>T (p.Ala1318Ser)
|
rs777939926
|
|
|
NM_001458.5(FLNC):c.3953C>T (p.Ala1318Val)
|
|
|
|
NM_001458.5(FLNC):c.3964+1G>A
|
rs1808557594
|
|
|
NM_001458.5(FLNC):c.3964+1G>T
|
rs1808557594
|
|
|
NM_001458.5(FLNC):c.3964+5G>A
|
rs2128936793
|
|
|
NM_001458.5(FLNC):c.3964G>C (p.Gly1322Arg)
|
|
|
|
NM_001458.5(FLNC):c.3965-20C>A
|
|
|
|
NM_001458.5(FLNC):c.3966C>A (p.Gly1322=)
|
rs200237564
|
|
|
NM_001458.5(FLNC):c.3966C>G (p.Gly1322=)
|
|
|
|
NM_001458.5(FLNC):c.3967G>A (p.Val1323Met)
|
rs771676134
|
|
|
NM_001458.5(FLNC):c.3967G>T (p.Val1323Leu)
|
|
|
|
NM_001458.5(FLNC):c.3968T>G (p.Val1323Gly)
|
rs2128936843
|
|
|
NM_001458.5(FLNC):c.3969G>T (p.Val1323=)
|
|
|
|
NM_001458.5(FLNC):c.3982G>A (p.Val1328Ile)
|
rs1585161584
|
|
|
NM_001458.5(FLNC):c.398T>C (p.Leu133Pro)
|
rs1808053502
|
|
|
NM_001458.5(FLNC):c.3996G>T (p.Glu1332Asp)
|
|
|
|
NM_001458.5(FLNC):c.399G>T (p.Leu133=)
|
rs2128933616
|
|
|
NM_001458.5(FLNC):c.4000_4015del (p.Ala1334fs)
|
|
|
|
NM_001458.5(FLNC):c.4008C>T (p.Pro1336=)
|
|
|
|
NM_001458.5(FLNC):c.4009A>C (p.Lys1337Gln)
|
rs1554399580
|
|
|
NM_001458.5(FLNC):c.4016C>T (p.Pro1339Leu)
|
rs1808566825
|
|
|
NM_001458.5(FLNC):c.4017C>A (p.Pro1339=)
|
rs2128936853
|
|
|
NM_001458.5(FLNC):c.4018T>G (p.Phe1340Val)
|
rs775383465
|
|
|
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)
|
rs1562998062
|
|
|
NM_001458.5(FLNC):c.4029C>T (p.Gly1343=)
|
|
|
|
NM_001458.5(FLNC):c.402C>G (p.Ile134Met)
|
|
|
|
NM_001458.5(FLNC):c.4036G>A (p.Glu1346Lys)
|
|
|
|
NM_001458.5(FLNC):c.4044T>C (p.Cys1348=)
|
rs1443334555
|
|
|
NM_001458.5(FLNC):c.4052C>T (p.Thr1351Ile)
|
rs1585161671
|
|
|
NM_001458.5(FLNC):c.4053C>T (p.Thr1351=)
|
rs2128936870
|
|
|
NM_001458.5(FLNC):c.4054C>A (p.Arg1352Ser)
|
|
|
|
NM_001458.5(FLNC):c.4054del (p.Arg1352fs)
|
|
|
|
NM_001458.5(FLNC):c.4055G>T (p.Arg1352Leu)
|
rs746731567
|
|
|
NM_001458.5(FLNC):c.4055_4056delinsAT (p.Arg1352His)
|
|
|
|
NM_001458.5(FLNC):c.4059_4060del (p.Arg1354fs)
|
|
|
|
NM_001458.5(FLNC):c.405G>T (p.Trp135Cys)
|
rs2128933620
|
|
|
NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter)
|
rs138193236
|
|
|
NM_001458.5(FLNC):c.4065C>G (p.Ala1355=)
|
|
|
|
NM_001458.5(FLNC):c.4069G>T (p.Gly1357Trp)
|
|
|
|
NM_001458.5(FLNC):c.406A>G (p.Thr136Ala)
|
|
|
|
NM_001458.5(FLNC):c.4071del (p.Pro1358fs)
|
|
|
|
NM_001458.5(FLNC):c.4078C>T (p.Leu1360=)
|
|
|
|
NM_001458.5(FLNC):c.4080G>A (p.Leu1360=)
|
|
|
|
NM_001458.5(FLNC):c.4087G>A (p.Gly1363Ser)
|
|
|
|
NM_001458.5(FLNC):c.4088G>C (p.Gly1363Ala)
|
|
|
|
NM_001458.5(FLNC):c.408G>T (p.Thr136=)
|
rs370110008
|
|
|
NM_001458.5(FLNC):c.4092G>T (p.Leu1364Phe)
|
rs768635501
|
|
|
NM_001458.5(FLNC):c.4101G>A (p.Lys1367=)
|
|
|
|
NM_001458.5(FLNC):c.4102G>C (p.Ala1368Pro)
|
|
|
|
NM_001458.5(FLNC):c.4102G>T (p.Ala1368Ser)
|
|
|
|
NM_001458.5(FLNC):c.4103C>T (p.Ala1368Val)
|
rs896305338
|
|
|
NM_001458.5(FLNC):c.4105A>G (p.Asn1369Asp)
|
|
|
|
NM_001458.5(FLNC):c.4106A>G (p.Asn1369Ser)
|
rs1554399615
|
|
|
NM_001458.5(FLNC):c.4108C>G (p.Arg1370Gly)
|
rs1342121466
|
|
|
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter)
|
rs1342121466
|
|
|
NM_001458.5(FLNC):c.4111T>C (p.Phe1371Leu)
|
|
|
|
NM_001458.5(FLNC):c.4117G>C (p.Val1373Leu)
|
|
|
|
NM_001458.5(FLNC):c.4120G>A (p.Glu1374Lys)
|
|
|
|
NM_001458.5(FLNC):c.4127+11C>A
|
|
|
|
NM_001458.5(FLNC):c.4127+11C>G
|
rs372563727
|
|
|
NM_001458.5(FLNC):c.4127+12C>G
|
|
|
|
NM_001458.5(FLNC):c.4127+13T>G
|
|
|
|
NM_001458.5(FLNC):c.4127+1G>A
|
|
|
|
NM_001458.5(FLNC):c.4127+1G>T
|
rs1346981294
|
|
|
NM_001458.5(FLNC):c.4127+5C>A
|
|
|
|
NM_001458.5(FLNC):c.4127+5C>T
|
rs2128936919
|
|
|
NM_001458.5(FLNC):c.4127+8C>T
|
rs2128936922
|
|
|
NM_001458.5(FLNC):c.4128-11T>G
|
|
|
|
NM_001458.5(FLNC):c.4128-13T>A
|
rs2128937010
|
|
|
NM_001458.5(FLNC):c.4128-15G>A
|
|
|
|
NM_001458.5(FLNC):c.4128-19G>A
|
|
|
|
NM_001458.5(FLNC):c.4128-1G>C
|
|
|
|
NM_001458.5(FLNC):c.4128-2_4128-1del
|
rs1808585056
|
|
|
NM_001458.5(FLNC):c.4128-9A>C
|
rs2128937012
|
|
|
NM_001458.5(FLNC):c.4129G>A (p.Gly1377Arg)
|
rs768725407
|
|
|
NM_001458.5(FLNC):c.4129G>C (p.Gly1377Arg)
|
|
|
|
NM_001458.5(FLNC):c.4130G>C (p.Gly1377Ala)
|
|
|
|
NM_001458.5(FLNC):c.4132G>A (p.Ala1378Thr)
|
|
|
|
NM_001458.5(FLNC):c.4132G>T (p.Ala1378Ser)
|
|
|
|
NM_001458.5(FLNC):c.4141G>T (p.Gly1381Trp)
|
rs766513255
|
|
|
NM_001458.5(FLNC):c.4142G>A (p.Gly1381Glu)
|
rs2128937018
|
|
|
NM_001458.5(FLNC):c.4143G>C (p.Gly1381=)
|
|
|
|
NM_001458.5(FLNC):c.4145G>A (p.Gly1382Asp)
|
rs1808586180
|
|
|
NM_001458.5(FLNC):c.4152C>A (p.Gly1384=)
|
rs2128937024
|
|
|
NM_001458.5(FLNC):c.4159A>C (p.Ile1387Leu)
|
|
|
|
NM_001458.5(FLNC):c.4159A>G (p.Ile1387Val)
|
rs1032003580
|
|
|
NM_001458.5(FLNC):c.4162G>A (p.Glu1388Lys)
|
|
|
|
NM_001458.5(FLNC):c.4171_4227del (p.Ser1391_Tyr1409del)
|
|
|
|
NM_001458.5(FLNC):c.4181A>C (p.Lys1394Thr)
|
|
|
|
NM_001458.5(FLNC):c.4184T>A (p.Met1395Lys)
|
rs1372801269
|
|
|
NM_001458.5(FLNC):c.4185G>A (p.Met1395Ile)
|
rs2128937035
|
|
|
NM_001458.5(FLNC):c.4188C>A (p.Ser1396=)
|
|
|
|
NM_001458.5(FLNC):c.4192A>T (p.Lys1398Ter)
|
|
|
|
NM_001458.5(FLNC):c.4197CAA[1] (p.Asn1400del)
|
rs1167620763
|
|
|
NM_001458.5(FLNC):c.4202A>C (p.Lys1401Thr)
|
rs1808588600
|
|
|
NM_001458.5(FLNC):c.4202A>G (p.Lys1401Arg)
|
rs1808588600
|
|
|
NM_001458.5(FLNC):c.420del (p.Tyr141fs)
|
|
|
|
NM_001458.5(FLNC):c.421T>C (p.Tyr141His)
|
|
|
|
NM_001458.5(FLNC):c.4224G>T (p.Glu1408Asp)
|
|
|
|
NM_001458.5(FLNC):c.4230C>T (p.Ile1410=)
|
|
|
|
NM_001458.5(FLNC):c.4233C>T (p.Pro1411=)
|
rs2128937047
|
|
|
NM_001458.5(FLNC):c.4255G>A (p.Val1419Ile)
|
rs1432229476
|
|
|
NM_001458.5(FLNC):c.4256T>C (p.Val1419Ala)
|
rs2128937054
|
|
|
NM_001458.5(FLNC):c.4257C>A (p.Val1419=)
|
|
|
|
NM_001458.5(FLNC):c.4260C>T (p.Asn1420=)
|
|
|
|
NM_001458.5(FLNC):c.4272G>C (p.Gly1424=)
|
|
|
|
NM_001458.5(FLNC):c.4275del (p.Arg1426fs)
|
|
|
|
NM_001458.5(FLNC):c.4275dup (p.Arg1426fs)
|
rs756985550
|
|
|
NM_001458.5(FLNC):c.4276C>T (p.Arg1426Trp)
|
|
|
|
NM_001458.5(FLNC):c.4277G>A (p.Arg1426Gln)
|
|
|
|
NM_001458.5(FLNC):c.4277G>C (p.Arg1426Pro)
|
rs764452839
|
|
|
NM_001458.5(FLNC):c.4279C>T (p.Pro1427Ser)
|
|
|
|
NM_001458.5(FLNC):c.4280C>T (p.Pro1427Leu)
|
rs1192906461
|
|
|
NM_001458.5(FLNC):c.4287A>C (p.Pro1429=)
|
rs1808591761
|
|
|
NM_001458.5(FLNC):c.4288+10G>C
|
|
|
|
NM_001458.5(FLNC):c.4288+19C>T
|
|
|
|
NM_001458.5(FLNC):c.4288+1G>A
|
rs2128937065
|
|
|
NM_001458.5(FLNC):c.4288+20G>A
|
|
|
|
NM_001458.5(FLNC):c.4288+22_4288+23dup
|
|
|
|
NM_001458.5(FLNC):c.4288+2T>G
|
|
|
|
NM_001458.5(FLNC):c.4288+7AG[3]
|
rs780733285
|
|
|
NM_001458.5(FLNC):c.4288+9A>C
|
|
|
|
NM_001458.5(FLNC):c.4288G>A (p.Gly1430Arg)
|
|
|
|
NM_001458.5(FLNC):c.4289-16G>A
|
|
|
|
NM_001458.5(FLNC):c.4289-18A>C
|
|
|
|
NM_001458.5(FLNC):c.4289-3C>A
|
|
|
|
NM_001458.5(FLNC):c.4289-5C>T
|
|
|
|
NM_001458.5(FLNC):c.4289-7_4289-5del
|
rs1286999803
|
|
|
NM_001458.5(FLNC):c.4292G>T (p.Ser1431Ile)
|
|
|
|
NM_001458.5(FLNC):c.4293C>A (p.Ser1431Arg)
|
|
|
|
NM_001458.5(FLNC):c.4293C>T (p.Ser1431=)
|
rs376429779
|
|
|
NM_001458.5(FLNC):c.4298T>A (p.Phe1433Tyr)
|
rs2128937234
|
|
|
NM_001458.5(FLNC):c.4299C>A (p.Phe1433Leu)
|
|
|
|
NM_001458.5(FLNC):c.4299C>T (p.Phe1433=)
|
|
|
|
NM_001458.5(FLNC):c.4301G>A (p.Arg1434His)
|
rs143623535
|
|
|
NM_001458.5(FLNC):c.4301G>C (p.Arg1434Pro)
|
|
|
|
NM_001458.5(FLNC):c.4301G>T (p.Arg1434Leu)
|
rs143623535
|
|
|
NM_001458.5(FLNC):c.4309G>T (p.Val1437Leu)
|
rs1445187487
|
|
|
NM_001458.5(FLNC):c.4315G>A (p.Asp1439Asn)
|
rs1562998835
|
|
|
NM_001458.5(FLNC):c.4318G>A (p.Val1440Met)
|
|
|
|
NM_001458.5(FLNC):c.431C>T (p.Ser144Phe)
|
rs1225645939
|
|
|
NM_001458.5(FLNC):c.4321G>A (p.Val1441Met)
|
|
|
|
NM_001458.5(FLNC):c.4321del (p.Val1441fs)
|
|
|
|
NM_001458.5(FLNC):c.4323G>A (p.Val1441=)
|
|
|
|
NM_001458.5(FLNC):c.4324G>A (p.Asp1442Asn)
|
|
|
|
NM_001458.5(FLNC):c.4326C>A (p.Asp1442Glu)
|
rs1458536220
|
|
|
NM_001458.5(FLNC):c.4329T>C (p.Pro1443=)
|
rs1183819162
|
|
|
NM_001458.5(FLNC):c.432C>G (p.Ser144=)
|
|
|
|
NM_001458.5(FLNC):c.4331G>C (p.Gly1444Ala)
|
|
|
|
NM_001458.5(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer)
|
rs1562998858
|
|
|
NM_001458.5(FLNC):c.4335G>A (p.Lys1445=)
|
|
|
|
NM_001458.5(FLNC):c.4342T>C (p.Cys1448Arg)
|
rs976487545
|
|
|
NM_001458.5(FLNC):c.4352C>G (p.Pro1451Arg)
|
|
|
|
NM_001458.5(FLNC):c.4356G>C (p.Gly1452=)
|
rs2128937254
|
|
|
NM_001458.5(FLNC):c.4363_4375dup (p.Ala1459fs)
|
|
|
|
NM_001458.5(FLNC):c.4374G>A (p.Arg1458=)
|
rs1305563889
|
|
|
NM_001458.5(FLNC):c.4378C>G (p.Arg1460Gly)
|
|
|
|
NM_001458.5(FLNC):c.4387C>G (p.Gln1463Glu)
|
rs1808623920
|
|
|
NM_001458.5(FLNC):c.438C>T (p.Pro146=)
|
rs2128933631
|
|
|
NM_001458.5(FLNC):c.4392C>T (p.Thr1464=)
|
|
|
|
NM_001458.5(FLNC):c.4399G>A (p.Val1467Met)
|
|
|
|
NM_001458.5(FLNC):c.4402G>A (p.Asp1468Asn)
|
|
|
|
NM_001458.5(FLNC):c.4415C>T (p.Ala1472Val)
|
|
|
|
NM_001458.5(FLNC):c.4418G>A (p.Gly1473Asp)
|
rs1174959724
|
|
|
NM_001458.5(FLNC):c.4423G>T (p.Ala1475Ser)
|
rs982026083
|
|
|
NM_001458.5(FLNC):c.4426C>A (p.Pro1476Thr)
|
|
|
|
NM_001458.5(FLNC):c.4432C>T (p.Gln1478Ter)
|
rs2128937285
|
|
|
NM_001458.5(FLNC):c.4435G>C (p.Val1479Leu)
|
|
|
|
NM_001458.5(FLNC):c.4445T>C (p.Leu1482Pro)
|
|
|
|
NM_001458.5(FLNC):c.444G>A (p.Trp148Ter)
|
rs1554397197
|
|
|
NM_001458.5(FLNC):c.4456+15G>A
|
|
|
|
NM_001458.5(FLNC):c.4456+16G>A
|
rs543476754
|
|
|
NM_001458.5(FLNC):c.4456+17G>T
|
|
|
|
NM_001458.5(FLNC):c.4457-19C>A
|
rs369731117
|
|
|
NM_001458.5(FLNC):c.4457-1G>A
|
rs1404524040
|
|
|
NM_001458.5(FLNC):c.4457-4C>T
|
rs2128937315
|
|
|
NM_001458.5(FLNC):c.4457-8T>C
|
rs2128937313
|
|
|
NM_001458.5(FLNC):c.4458del (p.Val1487fs)
|
|
|
|
NM_001458.5(FLNC):c.4464C>G (p.Ala1488=)
|
|
|
|
NM_001458.5(FLNC):c.4467G>A (p.Glu1489=)
|
rs1808631322
|
|
|
NM_001458.5(FLNC):c.446A>T (p.Glu149Val)
|
rs1808055544
|
|
|
NM_001458.5(FLNC):c.4475A>C (p.Glu1492Ala)
|
|
|
|
NM_001458.5(FLNC):c.4479G>A (p.Val1493=)
|
rs756021559
|
|
|
NM_001458.5(FLNC):c.4481G>A (p.Arg1494Gln)
|
rs1241325618
|
|
|
NM_001458.5(FLNC):c.4484A>G (p.Asp1495Gly)
|
|
|
|
NM_001458.5(FLNC):c.4487A>G (p.Asn1496Ser)
|
|
|
|
NM_001458.5(FLNC):c.4492G>T (p.Asp1498Tyr)
|
|
|
|
NM_001458.5(FLNC):c.4493A>G (p.Asp1498Gly)
|
|
|
|
NM_001458.5(FLNC):c.4496G>A (p.Gly1499Asp)
|
|
|
|
NM_001458.5(FLNC):c.4497C>T (p.Gly1499=)
|
rs1808633213
|
|
|
NM_001458.5(FLNC):c.4505C>T (p.Thr1502Ile)
|
|
|
|
NM_001458.5(FLNC):c.4507G>A (p.Val1503Ile)
|
|
|
|
NM_001458.5(FLNC):c.4510del (p.His1504fs)
|
|
|
|
NM_001458.5(FLNC):c.4516A>G (p.Thr1506Ala)
|
rs771974318
|
|
|
NM_001458.5(FLNC):c.4517C>G (p.Thr1506Ser)
|
rs1808634430
|
|
|
NM_001458.5(FLNC):c.4519C>A (p.Pro1507Thr)
|
|
|
|
NM_001458.5(FLNC):c.4519C>G (p.Pro1507Ala)
|
|
|
|
NM_001458.5(FLNC):c.451G>A (p.Glu151Lys)
|
rs1354261792
|
|
|
NM_001458.5(FLNC):c.4525A>G (p.Thr1509Ala)
|
|
|
|
NM_001458.5(FLNC):c.4531G>A (p.Gly1511Arg)
|
rs1445118718
|
|
|
NM_001458.5(FLNC):c.4536C>T (p.Pro1512=)
|
|
|
|
NM_001458.5(FLNC):c.4537T>C (p.Tyr1513His)
|
|
|
|
NM_001458.5(FLNC):c.4540A>G (p.Thr1514Ala)
|
|
|
|
NM_001458.5(FLNC):c.4542G>A (p.Thr1514=)
|
|
|
|
NM_001458.5(FLNC):c.4550T>C (p.Val1517Ala)
|
|
|
|
NM_001458.5(FLNC):c.4550T>G (p.Val1517Gly)
|
|
|
|
NM_001458.5(FLNC):c.4557T>A (p.Tyr1519Ter)
|
rs2128937364
|
|
|
NM_001458.5(FLNC):c.4560T>C (p.Ala1520=)
|
rs2128937366
|
|
|
NM_001458.5(FLNC):c.4562A>C (p.Asp1521Ala)
|
|
|
|
NM_001458.5(FLNC):c.4564C>A (p.Gln1522Lys)
|
|
|
|
NM_001458.5(FLNC):c.4564C>T (p.Gln1522Ter)
|
|
|
|
NM_001458.5(FLNC):c.4564del (p.Gln1522fs)
|
rs2128937368
|
|
|
NM_001458.5(FLNC):c.4566G>T (p.Gln1522His)
|
rs559667295
|
|
|
NM_001458.5(FLNC):c.4570G>A (p.Val1524Met)
|
rs1358403336
|
|
|
NM_001458.5(FLNC):c.4575A>G (p.Pro1525=)
|
|
|
|
NM_001458.5(FLNC):c.4576C>G (p.Arg1526Gly)
|
rs746275035
|
|
|
NM_001458.5(FLNC):c.4578C>A (p.Arg1526=)
|
|
|
|
NM_001458.5(FLNC):c.4580+12C>A
|
|
|
|
NM_001458.5(FLNC):c.4580+19C>T
|
|
|
|
NM_001458.5(FLNC):c.4580+1G>A
|
|
|
|
NM_001458.5(FLNC):c.4580+20T>C
|
|
|
|
NM_001458.5(FLNC):c.4580+4A>G
|
|
|
|
NM_001458.5(FLNC):c.4580+5G>A
|
|
|
|
NM_001458.5(FLNC):c.4581-10G>A
|
rs2128937516
|
|
|
NM_001458.5(FLNC):c.4581-10G>C
|
|
|
|
NM_001458.5(FLNC):c.4581-10_4581-8del
|
rs2128937515
|
|
|
NM_001458.5(FLNC):c.4581-15C>T
|
|
|
|
NM_001458.5(FLNC):c.4581-6C>T
|
|
|
|
NM_001458.5(FLNC):c.4581C>A (p.Ser1527Arg)
|
rs2128937518
|
|
|
NM_001458.5(FLNC):c.4593C>G (p.Ile1531Met)
|
rs371988433
|
|
|
NM_001458.5(FLNC):c.4598T>A (p.Val1533Asp)
|
|
|
|
NM_001458.5(FLNC):c.45C>T (p.Gly15=)
|
rs2128932096
|
|
|
NM_001458.5(FLNC):c.4604C>A (p.Pro1535Gln)
|
|
|
|
NM_001458.5(FLNC):c.4605A>G (p.Pro1535=)
|
rs1017137913
|
|
|
NM_001458.5(FLNC):c.4605A>T (p.Pro1535=)
|
|
|
|
NM_001458.5(FLNC):c.4607C>T (p.Ala1536Val)
|
rs1808665032
|
|
|
NM_001458.5(FLNC):c.460G>A (p.Glu154Lys)
|
|
|
|
NM_001458.5(FLNC):c.4615G>A (p.Ala1539Thr)
|
rs1562999443
|
|
|
NM_001458.5(FLNC):c.4616C>T (p.Ala1539Val)
|
rs770746660
|
|
|
NM_001458.5(FLNC):c.4617C>T (p.Ala1539=)
|
|
|
|
NM_001458.5(FLNC):c.4621A>G (p.Lys1541Glu)
|
|
|
|
NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter)
|
rs1562999451
|
|
|
NM_001458.5(FLNC):c.4631C>A (p.Ala1544Asp)
|
|
|
|
NM_001458.5(FLNC):c.4632C>G (p.Ala1544=)
|
|
|
|
NM_001458.5(FLNC):c.4634G>T (p.Ser1545Ile)
|
rs2128937535
|
|
|
NM_001458.5(FLNC):c.4636G>T (p.Gly1546Cys)
|
rs774263134
|
|
|
NM_001458.5(FLNC):c.4637G>A (p.Gly1546Asp)
|
rs1427917546
|
|
|
NM_001458.5(FLNC):c.4639C>T (p.Pro1547Ser)
|
rs2128937538
|
|
|
NM_001458.5(FLNC):c.4645C>T (p.Leu1549Phe)
|
rs2128937539
|
|
|
NM_001458.5(FLNC):c.4649A>G (p.Asn1550Ser)
|
|
|
|
NM_001458.5(FLNC):c.4653C>T (p.Ala1551=)
|
rs939470112
|
|
|
NM_001458.5(FLNC):c.4655C>T (p.Ser1552Phe)
|
|
|
|
NM_001458.5(FLNC):c.4674G>A (p.Leu1558=)
|
|
|
|
NM_001458.5(FLNC):c.4675C>A (p.Pro1559Thr)
|
|
|
|
NM_001458.5(FLNC):c.4678G>A (p.Val1560Met)
|
rs1351915127
|
|
|
NM_001458.5(FLNC):c.4680G>T (p.Val1560=)
|
|
|
|
NM_001458.5(FLNC):c.4682del (p.Glu1561fs)
|
rs2128937556
|
|
|
NM_001458.5(FLNC):c.4687A>C (p.Thr1563Pro)
|
rs1490741362
|
|
|
NM_001458.5(FLNC):c.4689C>A (p.Thr1563=)
|
rs2128937560
|
|
|
NM_001458.5(FLNC):c.468C>A (p.Ala156=)
|
rs1177374780
|
|
|
NM_001458.5(FLNC):c.4697C>G (p.Ala1566Gly)
|
rs1808670044
|
|
|
NM_001458.5(FLNC):c.4698A>C (p.Ala1566=)
|
|
|
|
NM_001458.5(FLNC):c.4698_4699delinsTT (p.Arg1567Trp)
|
rs2128937563
|
|
|
NM_001458.5(FLNC):c.469C>G (p.Arg157Gly)
|
rs759739899
|
|
|
NM_001458.5(FLNC):c.46G>T (p.Asp16Tyr)
|
rs1807849615
|
|
|
NM_001458.5(FLNC):c.4700G>T (p.Arg1567Leu)
|
rs2291569
|
|
|
NM_001458.5(FLNC):c.4708G>T (p.Gly1570Cys)
|
rs1562999563
|
|
|
NM_001458.5(FLNC):c.4716G>T (p.Gly1572=)
|
|
|
|
NM_001458.5(FLNC):c.4716del (p.Leu1573fs)
|
rs1554400021
|
|
|
NM_001458.5(FLNC):c.4718T>A (p.Leu1573Ter)
|
rs2128937575
|
|
|
NM_001458.5(FLNC):c.4729C>T (p.Gln1577Ter)
|
rs1585163755
|
|
|
NM_001458.5(FLNC):c.472A>C (p.Lys158Gln)
|
|
|
|
NM_001458.5(FLNC):c.4732A>G (p.Ile1578Val)
|
|
|
|
NM_001458.5(FLNC):c.4737+12T>C
|
|
|
|
NM_001458.5(FLNC):c.4737+15A>C
|
rs182734223
|
|
|
NM_001458.5(FLNC):c.4737+19C>G
|
|
|
|
NM_001458.5(FLNC):c.4737+20A>G
|
|
|
|
NM_001458.5(FLNC):c.4737+5G>A
|
rs1808673722
|
|
|
NM_001458.5(FLNC):c.4737+9_4737+10del
|
rs794727437
|
|
|
NM_001458.5(FLNC):c.4738-11T>C
|
|
|
|
NM_001458.5(FLNC):c.4738-15C>G
|
|
|
|
NM_001458.5(FLNC):c.4738-17C>T
|
rs2128937608
|
|
|
NM_001458.5(FLNC):c.4738-6C>A
|
|
|
|
NM_001458.5(FLNC):c.4738-6C>T
|
rs771410017
|
|
|
NM_001458.5(FLNC):c.4738-7C>T
|
rs1808677827
|
|
|
NM_001458.5(FLNC):c.4740C>A (p.Asp1580Glu)
|
|
|
|
NM_001458.5(FLNC):c.4740C>T (p.Asp1580=)
|
rs759816924
|
|
|
NM_001458.5(FLNC):c.4742C>A (p.Pro1581His)
|
rs1365087680
|
|
|
NM_001458.5(FLNC):c.4743C>G (p.Pro1581=)
|
rs765574147
|
|
|
NM_001458.5(FLNC):c.4743C>T (p.Pro1581=)
|
|
|
|
NM_001458.5(FLNC):c.4747G>A (p.Gly1583Ser)
|
rs2128937618
|
|
|
NM_001458.5(FLNC):c.4748G>C (p.Gly1583Ala)
|
|
|
|
NM_001458.5(FLNC):c.4752G>A (p.Lys1584=)
|
|
|
|
NM_001458.5(FLNC):c.4755del (p.Lys1586fs)
|
rs2128937622
|
|
|
NM_001458.5(FLNC):c.4764C>T (p.Ala1588=)
|
|
|
|
NM_001458.5(FLNC):c.4767C>T (p.Asn1589=)
|
rs2128937627
|
|
|
NM_001458.5(FLNC):c.4768A>G (p.Ile1590Val)
|
|
|
|
NM_001458.5(FLNC):c.4769T>G (p.Ile1590Ser)
|
rs1808679455
|
|
|
NM_001458.5(FLNC):c.4771C>A (p.Arg1591=)
|
rs576453637
|
|
|
NM_001458.5(FLNC):c.4775A>G (p.Asp1592Gly)
|
rs1808679952
|
|
|
NM_001458.5(FLNC):c.4775A>T (p.Asp1592Val)
|
|
|
|
NM_001458.5(FLNC):c.4783G>A (p.Asp1595Asn)
|
rs780133859
|
|
|
NM_001458.5(FLNC):c.4791G>A (p.Thr1597=)
|
rs374180766
|
|
|
NM_001458.5(FLNC):c.4791G>T (p.Thr1597=)
|
|
|
|
NM_001458.5(FLNC):c.4794C>A (p.Tyr1598Ter)
|
rs1808681247
|
|
|
NM_001458.5(FLNC):c.4794C>T (p.Tyr1598=)
|
rs1808681247
|
|
|
NM_001458.5(FLNC):c.4796C>T (p.Thr1599Ile)
|
rs2128937641
|
|
|
NM_001458.5(FLNC):c.4797T>C (p.Thr1599=)
|
|
|
|
NM_001458.5(FLNC):c.4806C>T (p.Tyr1602=)
|
|
|
|
NM_001458.5(FLNC):c.4808T>C (p.Leu1603Pro)
|
|
|
|
NM_001458.5(FLNC):c.480G>T (p.Thr160=)
|
|
|
|
NM_001458.5(FLNC):c.4811C>T (p.Pro1604Leu)
|
rs778021239
|
|
|
NM_001458.5(FLNC):c.4812G>A (p.Pro1604=)
|
rs553400393
|
|
|
NM_001458.5(FLNC):c.4812G>T (p.Pro1604=)
|
|
|
|
NM_001458.5(FLNC):c.4815C>T (p.Asp1605=)
|
rs2128937651
|
|
|
NM_001458.5(FLNC):c.4817T>A (p.Met1606Lys)
|
rs1808683017
|
|
|
NM_001458.5(FLNC):c.4818G>A (p.Met1606Ile)
|
|
|
|
NM_001458.5(FLNC):c.4819A>G (p.Ser1607Gly)
|
|
|
|
NM_001458.5(FLNC):c.4825C>G (p.Arg1609Gly)
|
rs374756527
|
|
|
NM_001458.5(FLNC):c.4826G>A (p.Arg1609Gln)
|
rs1168628508
|
|
|
NM_001458.5(FLNC):c.4832C>T (p.Thr1611Ile)
|
rs1025308371
|
|
|
NM_001458.5(FLNC):c.4845G>A (p.Lys1615=)
|
|
|
|
NM_001458.5(FLNC):c.4845del (p.Lys1615fs)
|
|
|
|
NM_001458.5(FLNC):c.4851C>A (p.Gly1617=)
|
|
|
|
NM_001458.5(FLNC):c.4857T>C (p.Asp1619=)
|
rs1169437113
|
|
|
NM_001458.5(FLNC):c.4858G>A (p.Glu1620Lys)
|
rs1808685152
|
|
|
NM_001458.5(FLNC):c.4863C>T (p.Ile1621=)
|
|
|
|
NM_001458.5(FLNC):c.4868A>G (p.Tyr1623Cys)
|
rs1585164018
|
|
|
NM_001458.5(FLNC):c.4869C>T (p.Tyr1623=)
|
|
|
|
NM_001458.5(FLNC):c.486dup (p.Gln163fs)
|
rs2128933653
|
|
|
NM_001458.5(FLNC):c.4873C>T (p.Pro1625Ser)
|
rs2128937664
|
|
|
NM_001458.5(FLNC):c.4874C>T (p.Pro1625Leu)
|
rs1585164029
|
|
|
NM_001458.5(FLNC):c.4879C>G (p.Arg1627Gly)
|
|
|
|
NM_001458.5(FLNC):c.4880G>T (p.Arg1627Leu)
|
rs751592993
|
|
|
NM_001458.5(FLNC):c.4884C>A (p.Ile1628=)
|
rs1808686843
|
|
|
NM_001458.5(FLNC):c.4887T>A (p.His1629Gln)
|
rs1585164043
|
|
|
NM_001458.5(FLNC):c.4888G>T (p.Ala1630Ser)
|
rs1479430297
|
|
|
NM_001458.5(FLNC):c.4896C>T (p.Pro1632=)
|
rs2128937674
|
|
|
NM_001458.5(FLNC):c.4897A>G (p.Thr1633Ala)
|
|
|
|
NM_001458.5(FLNC):c.4914G>T (p.Lys1638Asn)
|
|
|
|
NM_001458.5(FLNC):c.491G>A (p.Arg164Gln)
|
|
|
|
NM_001458.5(FLNC):c.4920_4927+6del
|
|
|
|
NM_001458.5(FLNC):c.4925C>T (p.Thr1642Ile)
|
rs756074974
|
|
|
NM_001458.5(FLNC):c.4926A>G (p.Thr1642=)
|
rs1808689032
|
|
|
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs)
|
rs1402879259
|
|
|
NM_001458.5(FLNC):c.4927+10C>T
|
|
|
|
NM_001458.5(FLNC):c.4927+12C>T
|
|
|
|
NM_001458.5(FLNC):c.4927+13C>A
|
|
|
|
NM_001458.5(FLNC):c.4927+14C>A
|
|
|
|
NM_001458.5(FLNC):c.4927+2T>C
|
|
|
|
NM_001458.5(FLNC):c.4927+2T>G
|
rs2128937680
|
|
|
NM_001458.5(FLNC):c.4927+3G>A
|
rs2128937684
|
|
|
NM_001458.5(FLNC):c.4927+5G>A
|
rs1808689249
|
|
|
NM_001458.5(FLNC):c.4928-10C>G
|
rs2128937745
|
|
|
NM_001458.5(FLNC):c.4928-16T>G
|
|
|
|
NM_001458.5(FLNC):c.4928-1G>C
|
|
|
|
NM_001458.5(FLNC):c.492G>A (p.Arg164=)
|
rs751988597
|
|
|
NM_001458.5(FLNC):c.492G>T (p.Arg164=)
|
rs751988597
|
|
|
NM_001458.5(FLNC):c.4931C>G (p.Ser1644Cys)
|
rs1808699932
|
|
|
NM_001458.5(FLNC):c.4934T>C (p.Ile1645Thr)
|
|
|
|
NM_001458.5(FLNC):c.4937G>A (p.Gly1646Glu)
|
|
|
|
NM_001458.5(FLNC):c.4939G>A (p.Gly1647Ser)
|
rs748563858
|
|
|
NM_001458.5(FLNC):c.4940G>T (p.Gly1647Val)
|
|
|
|
NM_001458.5(FLNC):c.4941C>T (p.Gly1647=)
|
|
|
|
NM_001458.5(FLNC):c.4946del (p.Gly1649fs)
|
rs1282619643
|
|
|
NM_001458.5(FLNC):c.4951+16C>G
|
|
|
|
NM_001458.5(FLNC):c.4951+19C>A
|
|
|
|
NM_001458.5(FLNC):c.4951+2T>C
|
rs1585164316
|
|
|
NM_001458.5(FLNC):c.4952-11C>T
|
|
|
|
NM_001458.5(FLNC):c.4952-15T>A
|
|
|
|
NM_001458.5(FLNC):c.4952-20C>T
|
rs1199089488
|
|
|
NM_001458.5(FLNC):c.4952-2A>T
|
rs774945928
|
|
|
NM_001458.5(FLNC):c.4952-7A>G
|
rs746914067
|
|
|
NM_001458.5(FLNC):c.4952-7A>T
|
|
|
|
NM_001458.5(FLNC):c.4952-9G>A
|
rs747821376
|
|
|
NM_001458.5(FLNC):c.4952-9G>C
|
rs747821376
|
|
|
NM_001458.5(FLNC):c.4953T>G (p.Gly1651=)
|
|
|
|
NM_001458.5(FLNC):c.4956C>A (p.Ala1652=)
|
|
|
|
NM_001458.5(FLNC):c.4959C>A (p.Cys1653Ter)
|
|
|
|
NM_001458.5(FLNC):c.4969C>G (p.Arg1657Gly)
|
rs1563000044
|
|
|
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter)
|
rs1563000044
|
|
|
NM_001458.5(FLNC):c.4970G>T (p.Arg1657Leu)
|
|
|
|
NM_001458.5(FLNC):c.4981G>A (p.Gly1661Arg)
|
rs2128937796
|
|
|
NM_001458.5(FLNC):c.4984C>T (p.Gln1662Ter)
|
rs1808708673
|
|
|
NM_001458.5(FLNC):c.4988A>G (p.Glu1663Gly)
|
|
|
|
NM_001458.5(FLNC):c.4989G>A (p.Glu1663=)
|
|
|
|
NM_001458.5(FLNC):c.49G>A (p.Glu17Lys)
|
|
|
|
NM_001458.5(FLNC):c.4A>G (p.Met2Val)
|
|
|
|
NM_001458.5(FLNC):c.5000C>G (p.Thr1667Arg)
|
|
|
|
NM_001458.5(FLNC):c.5001G>T (p.Thr1667=)
|
rs370711488
|
|
|
NM_001458.5(FLNC):c.5011A>G (p.Lys1671Glu)
|
rs1563000088
|
|
|
NM_001458.5(FLNC):c.5013G>T (p.Lys1671Asn)
|
|
|
|
NM_001458.5(FLNC):c.5021_5023del (p.Gly1674del)
|
|
|
|
NM_001458.5(FLNC):c.5022T>G (p.Gly1674=)
|
rs1282017206
|
|
|
NM_001458.5(FLNC):c.5025G>A (p.Glu1675=)
|
|
|
|
NM_001458.5(FLNC):c.5026G>A (p.Gly1676Arg)
|
rs1585164542
|
|
|
NM_001458.5(FLNC):c.5027G>A (p.Gly1676Glu)
|
|
|
|
NM_001458.5(FLNC):c.5028G>A (p.Gly1676=)
|
|
|
|
NM_001458.5(FLNC):c.5029A>C (p.Lys1677Gln)
|
rs1554400214
|
|
|
NM_001458.5(FLNC):c.5036C>A (p.Thr1679Lys)
|
rs1364205864
|
|
|
NM_001458.5(FLNC):c.5039G>C (p.Cys1680Ser)
|
rs552930634
|
|
|
NM_001458.5(FLNC):c.5041A>G (p.Thr1681Ala)
|
|
|
|
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg)
|
rs193159707
|
|
|
NM_001458.5(FLNC):c.5042C>T (p.Thr1681Met)
|
rs193159707
|
|
|
NM_001458.5(FLNC):c.5044G>C (p.Val1682Leu)
|
|
|
|
NM_001458.5(FLNC):c.5056G>T (p.Asp1686Tyr)
|
|
|
|
NM_001458.5(FLNC):c.5059G>A (p.Gly1687Arg)
|
rs1808713041
|
|
|
NM_001458.5(FLNC):c.5064_5084dup (p.Leu1690_Glu1696dup)
|
rs1808713133
|
|
|
NM_001458.5(FLNC):c.5068C>G (p.Leu1690Val)
|
|
|
|
NM_001458.5(FLNC):c.5083G>A (p.Val1695Ile)
|
|
|
|
NM_001458.5(FLNC):c.5084T>C (p.Val1695Ala)
|
|
|
|
NM_001458.5(FLNC):c.5088G>A (p.Glu1696=)
|
rs1563000172
|
|
|
NM_001458.5(FLNC):c.5088G>C (p.Glu1696Asp)
|
rs1563000172
|
|
|
NM_001458.5(FLNC):c.5110A>G (p.Ile1704Val)
|
rs2128937827
|
|
|
NM_001458.5(FLNC):c.5114A>T (p.Tyr1705Phe)
|
|
|
|
NM_001458.5(FLNC):c.5117A>G (p.Tyr1706Cys)
|
|
|
|
NM_001458.5(FLNC):c.5123C>T (p.Ala1708Val)
|
rs1011817473
|
|
|
NM_001458.5(FLNC):c.5130G>A (p.Glu1710=)
|
|
|
|
NM_001458.5(FLNC):c.5135G>A (p.Gly1712Asp)
|
|
|
|
NM_001458.5(FLNC):c.5135G>C (p.Gly1712Ala)
|
rs2128937832
|
|
|
NM_001458.5(FLNC):c.5149A>T (p.Thr1717Ser)
|
|
|
|
NM_001458.5(FLNC):c.5160C>A (p.Phe1720Leu)
|
|
|
|
NM_001458.5(FLNC):c.5161G>A (p.Gly1721Arg)
|
rs759786433
|
|
|
NM_001458.5(FLNC):c.5162G>A (p.Gly1721Glu)
|
rs1181189567
|
|
|
NM_001458.5(FLNC):c.5163G>A (p.Gly1721=)
|
|
|
|
NM_001458.5(FLNC):c.5164G>A (p.Gly1722Ser)
|
rs765591354
|
|
|
NM_001458.5(FLNC):c.5165G>A (p.Gly1722Asp)
|
|
|
|
NM_001458.5(FLNC):c.5165del (p.Gly1722fs)
|
rs1554400242
|
|
|
NM_001458.5(FLNC):c.5170C>T (p.His1724Tyr)
|
rs2128937841
|
|
|
NM_001458.5(FLNC):c.5179A>G (p.Asn1727Asp)
|
rs2128937845
|
|
|
NM_001458.5(FLNC):c.5180A>G (p.Asn1727Ser)
|
rs1808718121
|
|
|
NM_001458.5(FLNC):c.5182A>G (p.Ser1728Gly)
|
rs1554400248
|
|
|
NM_001458.5(FLNC):c.5183G>A (p.Ser1728Asn)
|
|
|
|
NM_001458.5(FLNC):c.5187C>T (p.Pro1729=)
|
rs2128937847
|
|
|
NM_001458.5(FLNC):c.5187del (p.Phe1730fs)
|
|
|
|
NM_001458.5(FLNC):c.5194G>A (p.Val1732Met)
|
rs374848954
|
|
|
NM_001458.5(FLNC):c.5194G>C (p.Val1732Leu)
|
|
|
|
NM_001458.5(FLNC):c.5199+14C>T
|
|
|
|
NM_001458.5(FLNC):c.5199+15CA[4]
|
|
|
|
NM_001458.5(FLNC):c.5199+18A>G
|
rs2128937856
|
|
|
NM_001458.5(FLNC):c.5199+1G>C
|
rs1465588989
|
|
|
NM_001458.5(FLNC):c.5199+6T>G
|
|
|
|
NM_001458.5(FLNC):c.5199+9T>C
|
|
|
|
NM_001458.5(FLNC):c.519_525delinsT (p.Pro174_Gln175del)
|
rs1808059318
|
|
|
NM_001458.5(FLNC):c.5200-10G>A
|
rs1554400346
|
|
|
NM_001458.5(FLNC):c.5200-18C>G
|
|
|
|
NM_001458.5(FLNC):c.5200-20C>T
|
|
|
|
NM_001458.5(FLNC):c.5200G>A (p.Ala1734Thr)
|
rs1359496906
|
|
|
NM_001458.5(FLNC):c.5201C>T (p.Ala1734Val)
|
rs751149867
|
|
|
NM_001458.5(FLNC):c.5205T>G (p.Cys1735Trp)
|
|
|
|
NM_001458.5(FLNC):c.5208C>A (p.Asp1736Glu)
|
rs1291689149
|
|
|
NM_001458.5(FLNC):c.520C>T (p.Pro174Ser)
|
rs1350019040
|
|
|
NM_001458.5(FLNC):c.5216C>A (p.Pro1739Gln)
|
rs745650222
|
|
|
NM_001458.5(FLNC):c.5217G>C (p.Pro1739=)
|
rs769643482
|
|
|
NM_001458.5(FLNC):c.5217G>T (p.Pro1739=)
|
rs769643482
|
|
|
NM_001458.5(FLNC):c.5223G>A (p.Glu1741=)
|
|
|
|
NM_001458.5(FLNC):c.5231C>T (p.Pro1744Leu)
|
|
|
|
NM_001458.5(FLNC):c.5233T>A (p.Ser1745Thr)
|
|
|
|
NM_001458.5(FLNC):c.5238A>C (p.Glu1746Asp)
|
rs1563000552
|
|
|
NM_001458.5(FLNC):c.5239G>A (p.Val1747Met)
|
rs764373507
|
|
|
NM_001458.5(FLNC):c.5246A>C (p.Gln1749Pro)
|
|
|
|
NM_001458.5(FLNC):c.5248C>A (p.Leu1750Met)
|
|
|
|
NM_001458.5(FLNC):c.5252G>A (p.Arg1751His)
|
|
|
|
NM_001458.5(FLNC):c.525G>C (p.Gln175His)
|
|
|
|
NM_001458.5(FLNC):c.5261A>G (p.Tyr1754Cys)
|
rs1330454582
|
|
|
NM_001458.5(FLNC):c.5264C>T (p.Ala1755Val)
|
rs1286156977
|
|
|
NM_001458.5(FLNC):c.5265TCC[1] (p.Pro1757del)
|
rs1808740121
|
|
|
NM_001458.5(FLNC):c.5268T>A (p.Pro1756=)
|
rs1694081600
|
|
|
NM_001458.5(FLNC):c.5272C>G (p.Arg1758Gly)
|
rs369187211
|
|
|
NM_001458.5(FLNC):c.5273G>T (p.Arg1758Leu)
|
|
|
|
NM_001458.5(FLNC):c.5274G>A (p.Arg1758=)
|
rs1053977049
|
|
|
NM_001458.5(FLNC):c.5277C>A (p.Pro1759=)
|
rs763698034
|
|
|
NM_001458.5(FLNC):c.5279G>A (p.Gly1760Asp)
|
rs1808741985
|
|
|
NM_001458.5(FLNC):c.5285G>C (p.Arg1762Pro)
|
|
|
|
NM_001458.5(FLNC):c.5287C>A (p.Pro1763Thr)
|
|
|
|
NM_001458.5(FLNC):c.5289C>T (p.Pro1763=)
|
rs2128937979
|
|
|
NM_001458.5(FLNC):c.528G>C (p.Leu176=)
|
rs2128933672
|
|
|
NM_001458.5(FLNC):c.5295C>T (p.His1765=)
|
|
|
|
NM_001458.5(FLNC):c.5298+13C>T
|
rs1184909389
|
|
|
NM_001458.5(FLNC):c.5298+14C>T
|
rs2128937990
|
|
|
NM_001458.5(FLNC):c.5298+17C>A
|
|
|
|
NM_001458.5(FLNC):c.5298+7C>G
|
rs773294846
|
|
|
NM_001458.5(FLNC):c.5298+8G>T
|
rs867964395
|
|
|
NM_001458.5(FLNC):c.5298+9C>A
|
|
|
|
NM_001458.5(FLNC):c.5299-10C>T
|
rs2128938071
|
|
|
NM_001458.5(FLNC):c.5299-13T>A
|
rs2128938069
|
|
|
NM_001458.5(FLNC):c.5299-16del
|
|
|
|
NM_001458.5(FLNC):c.5299-17C>G
|
|
|
|
NM_001458.5(FLNC):c.5299-9C>T
|
rs1554400444
|
|
|
NM_001458.5(FLNC):c.5304A>C (p.Thr1768=)
|
|
|
|
NM_001458.5(FLNC):c.5304A>G (p.Thr1768=)
|
|
|
|
NM_001458.5(FLNC):c.5306A>G (p.Glu1769Gly)
|
|
|
|
NM_001458.5(FLNC):c.5306_5314del (p.Glu1769_Pro1771del)
|
rs2128938073
|
|
|
NM_001458.5(FLNC):c.5307G>A (p.Glu1769=)
|
|
|
|
NM_001458.5(FLNC):c.5307G>C (p.Glu1769Asp)
|
rs1808756761
|
|
|
NM_001458.5(FLNC):c.5310G>A (p.Glu1770=)
|
rs777868799
|
|
|
NM_001458.5(FLNC):c.5311C>A (p.Pro1771Thr)
|
|
|
|
NM_001458.5(FLNC):c.5317G>A (p.Val1773Met)
|
|
|
|
NM_001458.5(FLNC):c.531C>T (p.Pro177=)
|
rs1295139676
|
|
|
NM_001458.5(FLNC):c.531del (p.Ile178fs)
|
rs2128933676
|
|
|
NM_001458.5(FLNC):c.5321C>G (p.Pro1774Arg)
|
rs1273796039
|
|
|
NM_001458.5(FLNC):c.5322T>C (p.Pro1774=)
|
|
|
|
NM_001458.5(FLNC):c.5323G>A (p.Val1775Met)
|
|
|
|
NM_001458.5(FLNC):c.5323G>T (p.Val1775Leu)
|
|
|
|
NM_001458.5(FLNC):c.5328G>A (p.Glu1776=)
|
rs776941739
|
|
|
NM_001458.5(FLNC):c.532A>T (p.Ile178Phe)
|
|
|
|
NM_001458.5(FLNC):c.5331A>G (p.Pro1777=)
|
rs2128938084
|
|
|
NM_001458.5(FLNC):c.5335G>T (p.Glu1779Ter)
|
rs1808758208
|
|
|
NM_001458.5(FLNC):c.5339C>A (p.Ser1780Tyr)
|
|
|
|
NM_001458.5(FLNC):c.5343G>A (p.Met1781Ile)
|
rs1554400464
|
|
|
NM_001458.5(FLNC):c.5354T>C (p.Phe1785Ser)
|
rs1808758860
|
|
|
NM_001458.5(FLNC):c.5358C>G (p.Asn1786Lys)
|
rs1311819055
|
|
|
NM_001458.5(FLNC):c.5358C>T (p.Asn1786=)
|
|
|
|
NM_001458.5(FLNC):c.535A>T (p.Thr179Ser)
|
|
|
|
NM_001458.5(FLNC):c.5360del (p.Leu1787fs)
|
|
|
|
NM_001458.5(FLNC):c.5362G>T (p.Val1788Phe)
|
rs1808759348
|
|
|
NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly)
|
rs573899913
|
|
|
NM_001458.5(FLNC):c.5365A>G (p.Ile1789Val)
|
|
|
|
NM_001458.5(FLNC):c.5372T>A (p.Phe1791Tyr)
|
rs2128938095
|
|
|
NM_001458.5(FLNC):c.5379G>A (p.Val1793=)
|
rs558457664
|
|
|
NM_001458.5(FLNC):c.5389dup (p.Glu1797fs)
|
rs2128938104
|
|
|
NM_001458.5(FLNC):c.5391G>A (p.Glu1797=)
|
|
|
|
NM_001458.5(FLNC):c.5398+11G>A
|
|
|
|
NM_001458.5(FLNC):c.5398+12T>G
|
rs2128938113
|
|
|
NM_001458.5(FLNC):c.5398+1G>C
|
rs1808761665
|
|
|
NM_001458.5(FLNC):c.5398+20A>T
|
|
|
|
NM_001458.5(FLNC):c.5398G>A (p.Gly1800Arg)
|
rs2128938108
|
|
|
NM_001458.5(FLNC):c.5399-12_5399-9del
|
rs766580034
|
|
|
NM_001458.5(FLNC):c.5399-13_5399-12del
|
|
|
|
NM_001458.5(FLNC):c.5399-16T>C
|
|
|
|
NM_001458.5(FLNC):c.5399-17C>T
|
rs930809365
|
|
|
NM_001458.5(FLNC):c.5399-1G>A
|
|
|
|
NM_001458.5(FLNC):c.5399-2A>C
|
rs2128938204
|
|
|
NM_001458.5(FLNC):c.5399-8C>A
|
|
|
|
NM_001458.5(FLNC):c.5399-8C>T
|
rs575189613
|
|
|
NM_001458.5(FLNC):c.5412G>C (p.Met1804Ile)
|
|
|
|
NM_001458.5(FLNC):c.5413C>A (p.Pro1805Thr)
|
rs1808775264
|
|
|
NM_001458.5(FLNC):c.5414C>T (p.Pro1805Leu)
|
rs2128938211
|
|
|
NM_001458.5(FLNC):c.5421G>C (p.Gly1807=)
|
|
|
|
NM_001458.5(FLNC):c.5427G>A (p.Thr1809=)
|
rs774600814
|
|
|
NM_001458.5(FLNC):c.5427G>C (p.Thr1809=)
|
rs774600814
|
|
|
NM_001458.5(FLNC):c.5430_5431inv (p.Arg1811Trp)
|
|
|
|
NM_001458.5(FLNC):c.5431C>A (p.Arg1811=)
|
|
|
|
NM_001458.5(FLNC):c.5438A>G (p.Asn1813Ser)
|
|
|
|
NM_001458.5(FLNC):c.543C>T (p.Phe181=)
|
rs2128933683
|
|
|
NM_001458.5(FLNC):c.5444C>T (p.Thr1815Ile)
|
rs1361160043
|
|
|
NM_001458.5(FLNC):c.5448CAA[1] (p.Asn1817del)
|
rs1312829675
|
|
|
NM_001458.5(FLNC):c.5452A>C (p.Lys1818Gln)
|
|
|
|
NM_001458.5(FLNC):c.5455G>A (p.Asp1819Asn)
|
rs1808778177
|
|
|
NM_001458.5(FLNC):c.5455G>T (p.Asp1819Tyr)
|
rs1808778177
|
|
|
NM_001458.5(FLNC):c.5456A>T (p.Asp1819Val)
|
rs2128938237
|
|
|
NM_001458.5(FLNC):c.5459G>A (p.Gly1820Asp)
|
|
|
|
NM_001458.5(FLNC):c.5464A>G (p.Ile1822Val)
|
|
|
|
NM_001458.5(FLNC):c.5464A>T (p.Ile1822Phe)
|
|
|
|
NM_001458.5(FLNC):c.5469G>A (p.Thr1823=)
|
rs550620019
|
|
|
NM_001458.5(FLNC):c.5469_5482del (p.Val1824fs)
|
rs1808778979
|
|
|
NM_001458.5(FLNC):c.5470G>A (p.Val1824Met)
|
rs1808779198
|
|
|
NM_001458.5(FLNC):c.5478T>G (p.Tyr1826Ter)
|
rs371167779
|
|
|
NM_001458.5(FLNC):c.5483C>T (p.Pro1828Leu)
|
rs2128938246
|
|
|
NM_001458.5(FLNC):c.5484C>T (p.Pro1828=)
|
|
|
|
NM_001458.5(FLNC):c.5486C>T (p.Thr1829Ile)
|
rs1585166066
|
|
|
NM_001458.5(FLNC):c.5489A>G (p.Glu1830Gly)
|
|
|
|
NM_001458.5(FLNC):c.5491A>G (p.Lys1831Glu)
|
rs374126692
|
|
|
NM_001458.5(FLNC):c.5493A>G (p.Lys1831=)
|
|
|
|
NM_001458.5(FLNC):c.5495G>T (p.Gly1832Val)
|
rs1808780127
|
|
|
NM_001458.5(FLNC):c.5504A>C (p.Gln1835Pro)
|
|
|
|
NM_001458.5(FLNC):c.5505G>C (p.Gln1835His)
|
|
|
|
NM_001458.5(FLNC):c.5506A>C (p.Met1836Leu)
|
rs1808780678
|
|
|
NM_001458.5(FLNC):c.5517G>A (p.Lys1839=)
|
rs779185071
|
|
|
NM_001458.5(FLNC):c.5518T>A (p.Tyr1840Asn)
|
|
|
|
NM_001458.5(FLNC):c.5520T>A (p.Tyr1840Ter)
|
rs1808781579
|
|
|
NM_001458.5(FLNC):c.5520T>C (p.Tyr1840=)
|
rs1808781579
|
|
|
NM_001458.5(FLNC):c.5528A>G (p.Asn1843Ser)
|
|
|
|
NM_001458.5(FLNC):c.5530C>T (p.His1844Tyr)
|
|
|
|
NM_001458.5(FLNC):c.5537C>T (p.Pro1846Leu)
|
rs1408298919
|
|
|
NM_001458.5(FLNC):c.5539+10GGGCT[2]
|
rs752668700
|
|
|
NM_001458.5(FLNC):c.5539+10GGGCT[4]
|
rs752668700
|
|
|
NM_001458.5(FLNC):c.5539+16G>T
|
|
|
|
NM_001458.5(FLNC):c.5540-19T>C
|
rs2128938346
|
|
|
NM_001458.5(FLNC):c.5540-2A>G
|
rs111477195
|
|
|
NM_001458.5(FLNC):c.5540-5C>T
|
rs2128938350
|
|
|
NM_001458.5(FLNC):c.5540-6C>A
|
rs201335006
|
|
|
NM_001458.5(FLNC):c.5540-8A>G
|
rs760965562
|
|
|
NM_001458.5(FLNC):c.5545C>A (p.Pro1849Thr)
|
rs1808798354
|
|
|
NM_001458.5(FLNC):c.5546C>A (p.Pro1849His)
|
|
|
|
NM_001458.5(FLNC):c.5547C>G (p.Pro1849=)
|
|
|
|
NM_001458.5(FLNC):c.5547C>T (p.Pro1849=)
|
|
|
|
NM_001458.5(FLNC):c.554G>A (p.Trp185Ter)
|
rs1585151331
|
|
|
NM_001458.5(FLNC):c.5550A>G (p.Leu1850=)
|
|
|
|
NM_001458.5(FLNC):c.5557del (p.Tyr1853fs)
|
rs2128938355
|
|
|
NM_001458.5(FLNC):c.5558A>G (p.Tyr1853Cys)
|
|
|
|
NM_001458.5(FLNC):c.555G>A (p.Trp185Ter)
|
rs2128933685
|
|
|
NM_001458.5(FLNC):c.5560G>A (p.Val1854Met)
|
|
|
|
NM_001458.5(FLNC):c.5560G>C (p.Val1854Leu)
|
|
|
|
NM_001458.5(FLNC):c.5564A>G (p.Asp1855Gly)
|
|
|
|
NM_001458.5(FLNC):c.5564A>T (p.Asp1855Val)
|
|
|
|
NM_001458.5(FLNC):c.5568C>G (p.Ala1856=)
|
rs1554400651
|
|
|
NM_001458.5(FLNC):c.5569_5578del (p.Ile1857fs)
|
rs2128938360
|
|
|
NM_001458.5(FLNC):c.5576G>A (p.Ser1859Asn)
|
|
|
|
NM_001458.5(FLNC):c.5581C>T (p.His1861Tyr)
|
|
|
|
NM_001458.5(FLNC):c.5588G>A (p.Ser1863Asn)
|
rs1224825896
|
|
|
NM_001458.5(FLNC):c.5598G>A (p.Gly1866=)
|
|
|
|
NM_001458.5(FLNC):c.5607G>C (p.Leu1869=)
|
rs2128938380
|
|
|
NM_001458.5(FLNC):c.5613_5635del (p.Gly1872fs)
|
rs2128938382
|
|
|
NM_001458.5(FLNC):c.5618T>A (p.Met1873Lys)
|
rs1808801511
|
|
|
NM_001458.5(FLNC):c.5624A>G (p.Asn1875Ser)
|
rs1808801761
|
|
|
NM_001458.5(FLNC):c.5625C>T (p.Asn1875=)
|
rs2128938386
|
|
|
NM_001458.5(FLNC):c.563del (p.Gly188fs)
|
rs2128933688
|
|
|
NM_001458.5(FLNC):c.5643T>C (p.Thr1881=)
|
|
|
|
NM_001458.5(FLNC):c.5651C>T (p.Thr1884Ile)
|
rs1064796546
|
|
|
NM_001458.5(FLNC):c.5653A>T (p.Lys1885Ter)
|
rs1563001456
|
|
|
NM_001458.5(FLNC):c.5665del (p.Glu1889fs)
|
rs2128938391
|
|
|
NM_001458.5(FLNC):c.5666A>G (p.Glu1889Gly)
|
|
|
|
NM_001458.5(FLNC):c.5668+16G>T
|
|
|
|
NM_001458.5(FLNC):c.5668+16del
|
|
|
|
NM_001458.5(FLNC):c.5668+18C>A
|
|
|
|
NM_001458.5(FLNC):c.5668+19G>A
|
|
|
|
NM_001458.5(FLNC):c.5668+20C>T
|
|
|
|
NM_001458.5(FLNC):c.5668+3G>A
|
rs1563001474
|
|
|
NM_001458.5(FLNC):c.5668+6G>A
|
rs773119692
|
|
|
NM_001458.5(FLNC):c.5668+8A>C
|
rs2128938396
|
|
|
NM_001458.5(FLNC):c.5668G>T (p.Gly1890Trp)
|
rs1808803000
|
|
|
NM_001458.5(FLNC):c.5669-13C>T
|
rs375339065
|
|
|
NM_001458.5(FLNC):c.5669-15C>T
|
|
|
|
NM_001458.5(FLNC):c.5669-17C>G
|
|
|
|
NM_001458.5(FLNC):c.5669-1del
|
rs1563001548
|
|
|
NM_001458.5(FLNC):c.5669-8A>T
|
|
|
|
NM_001458.5(FLNC):c.5671G>T (p.Gly1891Cys)
|
rs2128938427
|
|
|
NM_001458.5(FLNC):c.5672G>A (p.Gly1891Asp)
|
rs1808808728
|
|
|
NM_001458.5(FLNC):c.5672G>T (p.Gly1891Val)
|
|
|
|
NM_001458.5(FLNC):c.5675_5678del (p.Leu1892fs)
|
rs1585166614
|
|
|
NM_001458.5(FLNC):c.5676dup (p.Ser1893fs)
|
|
|
|
NM_001458.5(FLNC):c.5677_5682del (p.Ser1893_Leu1894del)
|
rs1425063581
|
|
|
NM_001458.5(FLNC):c.5680C>T (p.Leu1894=)
|
|
|
|
NM_001458.5(FLNC):c.5681T>G (p.Leu1894Arg)
|
rs2128938434
|
|
|
NM_001458.5(FLNC):c.5683G>C (p.Ala1895Pro)
|
rs2128938435
|
|
|
NM_001458.5(FLNC):c.5685del (p.Val1896fs)
|
rs1808809268
|
|
|
NM_001458.5(FLNC):c.5687T>G (p.Val1896Gly)
|
|
|
|
NM_001458.5(FLNC):c.5690A>G (p.Glu1897Gly)
|
|
|
|
NM_001458.5(FLNC):c.5693G>A (p.Gly1898Asp)
|
rs1808809802
|
|
|
NM_001458.5(FLNC):c.5696C>T (p.Pro1899Leu)
|
|
|
|
NM_001458.5(FLNC):c.5697A>G (p.Pro1899=)
|
rs1585166641
|
|
|
NM_001458.5(FLNC):c.5697dup (p.Ser1900fs)
|
rs1554400700
|
|
|
NM_001458.5(FLNC):c.5698T>C (p.Ser1900Pro)
|
|
|
|
NM_001458.5(FLNC):c.5700_5701insTGT (p.Ser1900_Lys1901insCys)
|
|
|
|
NM_001458.5(FLNC):c.5703G>A (p.Lys1901=)
|
rs1440069448
|
|
|
NM_001458.5(FLNC):c.5704del (p.Ala1902fs)
|
rs1554400703
|
|
|
NM_001458.5(FLNC):c.5705C>A (p.Ala1902Glu)
|
|
|
|
NM_001458.5(FLNC):c.5709G>A (p.Glu1903=)
|
rs1279073825
|
|
|
NM_001458.5(FLNC):c.5713A>G (p.Thr1905Ala)
|
rs1808810815
|
|
|
NM_001458.5(FLNC):c.5714C>T (p.Thr1905Ile)
|
|
|
|
NM_001458.5(FLNC):c.5716T>C (p.Cys1906Arg)
|
rs1585166667
|
|
|
NM_001458.5(FLNC):c.5723A>C (p.Asp1908Ala)
|
rs2128938447
|
|
|
NM_001458.5(FLNC):c.5724C>A (p.Asp1908Glu)
|
rs2128938449
|
|
|
NM_001458.5(FLNC):c.5724CAA[1] (p.Asn1909del)
|
rs780830196
|
|
|
NM_001458.5(FLNC):c.5727C>A (p.Asn1909Lys)
|
|
|
|
NM_001458.5(FLNC):c.5733T>C (p.Asp1911=)
|
|
|
|
NM_001458.5(FLNC):c.5733dup (p.Gly1912fs)
|
rs2128938455
|
|
|
NM_001458.5(FLNC):c.5736C>A (p.Gly1912=)
|
|
|
|
NM_001458.5(FLNC):c.5742C>T (p.Cys1914=)
|
rs1808812204
|
|
|
NM_001458.5(FLNC):c.5745C>G (p.Thr1915=)
|
rs369449907
|
|
|
NM_001458.5(FLNC):c.5750C>G (p.Ser1917Cys)
|
|
|
|
NM_001458.5(FLNC):c.5753A>G (p.Tyr1918Cys)
|
rs1808812647
|
|
|
NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter)
|
rs764539989
|
|
|
NM_001458.5(FLNC):c.5754T>C (p.Tyr1918=)
|
rs764539989
|
|
|
NM_001458.5(FLNC):c.5763_5764inv (p.Ala1922Thr)
|
|
|
|
NM_001458.5(FLNC):c.5763del (p.Ala1922fs)
|
|
|
|
NM_001458.5(FLNC):c.5766G>T (p.Ala1922=)
|
|
|
|
NM_001458.5(FLNC):c.5770G>A (p.Gly1924Arg)
|
rs1585166739
|
|
|
NM_001458.5(FLNC):c.5776T>G (p.Tyr1926Asp)
|
rs1808814546
|
|
|
NM_001458.5(FLNC):c.5777A>G (p.Tyr1926Cys)
|
rs376653815
|
|
|
NM_001458.5(FLNC):c.5778C>G (p.Tyr1926Ter)
|
|
|
|
NM_001458.5(FLNC):c.5779A>G (p.Ser1927Gly)
|
rs369518785
|
|
|
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)
|
rs387906587
|
|
|
NM_001458.5(FLNC):c.5785A>G (p.Ile1929Val)
|
|
|
|
NM_001458.5(FLNC):c.5789_5790del (p.Val1930fs)
|
|
|
|
NM_001458.5(FLNC):c.5792G>T (p.Arg1931Leu)
|
rs780685346
|
|
|
NM_001458.5(FLNC):c.5793C>G (p.Arg1931=)
|
rs374631384
|
|
|
NM_001458.5(FLNC):c.5797G>A (p.Asp1933Asn)
|
rs762297336
|
|
|
NM_001458.5(FLNC):c.5797G>T (p.Asp1933Tyr)
|
|
|
|
NM_001458.5(FLNC):c.579C>T (p.Ala193=)
|
rs2128933691
|
|
|
NM_001458.5(FLNC):c.57C>T (p.Asp19=)
|
rs754468596
|
|
|
NM_001458.5(FLNC):c.5802C>T (p.Asp1934=)
|
|
|
|
NM_001458.5(FLNC):c.5803A>G (p.Lys1935Glu)
|
rs1808817011
|
|
|
NM_001458.5(FLNC):c.5807A>C (p.His1936Pro)
|
rs1454768847
|
|
|
NM_001458.5(FLNC):c.5808C>T (p.His1936=)
|
rs2128938491
|
|
|
NM_001458.5(FLNC):c.5810T>A (p.Ile1937Asn)
|
rs1585166795
|
|
|
NM_001458.5(FLNC):c.5813C>T (p.Pro1938Leu)
|
rs764747370
|
|
|
NM_001458.5(FLNC):c.5814G>C (p.Pro1938=)
|
rs752263141
|
|
|
NM_001458.5(FLNC):c.5819G>T (p.Ser1940Ile)
|
rs2128938494
|
|
|
NM_001458.5(FLNC):c.581_600del (p.Leu194fs)
|
|
|
|
NM_001458.5(FLNC):c.5822C>T (p.Pro1941Leu)
|
rs1808818042
|
|
|
NM_001458.5(FLNC):c.5823C>T (p.Pro1941=)
|
|
|
|
NM_001458.5(FLNC):c.5826C>G (p.Phe1942Leu)
|
rs567779611
|
|
|
NM_001458.5(FLNC):c.5829A>G (p.Thr1943=)
|
rs2128938497
|
|
|
NM_001458.5(FLNC):c.5832C>A (p.Ala1944=)
|
|
|
|
NM_001458.5(FLNC):c.5836A>G (p.Ile1946Val)
|
rs2128938499
|
|
|
NM_001458.5(FLNC):c.5837T>C (p.Ile1946Thr)
|
rs1808818903
|
|
|
NM_001458.5(FLNC):c.583G>A (p.Val195Met)
|
rs770955703
|
|
|
NM_001458.5(FLNC):c.5842+11T>G
|
rs998829059
|
|
|
NM_001458.5(FLNC):c.5842+13T>A
|
|
|
|
NM_001458.5(FLNC):c.5842+14A>T
|
|
|
|
NM_001458.5(FLNC):c.5842+17G>T
|
|
|
|
NM_001458.5(FLNC):c.5842+1G>A
|
rs2128938502
|
|
|
NM_001458.5(FLNC):c.5842+2T>G
|
rs2128938503
|
|
|
NM_001458.5(FLNC):c.5842+3G>A
|
rs2128938504
|
|
|
NM_001458.5(FLNC):c.5842+5G>C
|
rs1254947768
|
|
|
NM_001458.5(FLNC):c.5842+7C>A
|
|
|
|
NM_001458.5(FLNC):c.5843-10C>A
|
|
|
|
NM_001458.5(FLNC):c.5843-10C>G
|
|
|
|
NM_001458.5(FLNC):c.5843-17C>T
|
|
|
|
NM_001458.5(FLNC):c.5843-2A>G
|
rs1808866340
|
|
|
NM_001458.5(FLNC):c.5843-4C>T
|
rs2128938764
|
|
|
NM_001458.5(FLNC):c.5843-6dup
|
|
|
|
NM_001458.5(FLNC):c.5845_5848dup (p.Asp1950delinsGlyTer)
|
|
|
|
NM_001458.5(FLNC):c.5847T>C (p.Asp1949=)
|
rs2128938766
|
|
|
NM_001458.5(FLNC):c.5849A>G (p.Asp1950Gly)
|
|
|
|
NM_001458.5(FLNC):c.5854A>G (p.Met1952Val)
|
|
|
|
NM_001458.5(FLNC):c.5866C>T (p.Gln1956Ter)
|
rs2128938768
|
|
|
NM_001458.5(FLNC):c.587A>T (p.Asp196Val)
|
rs2128933694
|
|
|
NM_001458.5(FLNC):c.5882C>G (p.Thr1961Ser)
|
|
|
|
NM_001458.5(FLNC):c.5882C>T (p.Thr1961Ile)
|
rs1808867682
|
|
|
NM_001458.5(FLNC):c.5888C>A (p.Thr1963Lys)
|
rs772580545
|
|
|
NM_001458.5(FLNC):c.5889_5896dup (p.Ser1966fs)
|
|
|
|
NM_001458.5(FLNC):c.588C>T (p.Asp196=)
|
|
|
|
NM_001458.5(FLNC):c.5893G>A (p.Val1965Met)
|
rs771255247
|
|
|
NM_001458.5(FLNC):c.5894T>G (p.Val1965Gly)
|
rs1585167670
|
|
|
NM_001458.5(FLNC):c.5895G>C (p.Val1965=)
|
rs2128938778
|
|
|
NM_001458.5(FLNC):c.5904dup (p.Ile1969fs)
|
rs1585167678
|
|
|
NM_001458.5(FLNC):c.5906T>C (p.Ile1969Thr)
|
|
|
|
NM_001458.5(FLNC):c.5907C>T (p.Ile1969=)
|
|
|
|
NM_001458.5(FLNC):c.5909C>T (p.Thr1970Ile)
|
rs1563002254
|
|
|
NM_001458.5(FLNC):c.5911G>A (p.Glu1971Lys)
|
|
|
|
NM_001458.5(FLNC):c.5919T>A (p.Asp1973Glu)
|
rs767053963
|
|
|
NM_001458.5(FLNC):c.5920_5921del (p.Leu1974fs)
|
|
|
|
NM_001458.5(FLNC):c.592_593del (p.Cys198fs)
|
rs2128933700
|
|
|
NM_001458.5(FLNC):c.5934C>T (p.Thr1978=)
|
|
|
|
NM_001458.5(FLNC):c.5937C>T (p.Ala1979=)
|
|
|
|
NM_001458.5(FLNC):c.5940C>T (p.Ser1980=)
|
|
|
|
NM_001458.5(FLNC):c.5941A>G (p.Ile1981Val)
|
rs1808870602
|
|
|
NM_001458.5(FLNC):c.5949C>T (p.Ala1983=)
|
|
|
|
NM_001458.5(FLNC):c.595G>A (p.Ala199Thr)
|
rs1410315376
|
|
|
NM_001458.5(FLNC):c.5967G>A (p.Glu1989=)
|
rs2128938808
|
|
|
NM_001458.5(FLNC):c.5977C>T (p.Leu1993=)
|
|
|
|
NM_001458.5(FLNC):c.5978T>G (p.Leu1993Arg)
|
rs1808872550
|
|
|
NM_001458.5(FLNC):c.5979G>C (p.Leu1993=)
|
|
|
|
NM_001458.5(FLNC):c.5979G>T (p.Leu1993=)
|
|
|
|
NM_001458.5(FLNC):c.5983C>T (p.Arg1995Cys)
|
rs1303027892
|
|
|
NM_001458.5(FLNC):c.5983del (p.Arg1995fs)
|
rs1808872966
|
|
|
NM_001458.5(FLNC):c.5990C>T (p.Pro1997Leu)
|
|
|
|
NM_001458.5(FLNC):c.5993A>C (p.Asn1998Thr)
|
|
|
|
NM_001458.5(FLNC):c.5994C>A (p.Asn1998Lys)
|
|
|
|
NM_001458.5(FLNC):c.5995C>T (p.Arg1999Trp)
|
rs746182820
|
|
|
NM_001458.5(FLNC):c.5997G>A (p.Arg1999=)
|
rs1554400935
|
|
|
NM_001458.5(FLNC):c.5999A>C (p.His2000Pro)
|
rs572095826
|
|
|
NM_001458.5(FLNC):c.5T>C (p.Met2Thr)
|
|
|
|
NM_001458.5(FLNC):c.6000C>T (p.His2000=)
|
|
|
|
NM_001458.5(FLNC):c.6002T>C (p.Ile2001Thr)
|
rs1554400940
|
|
|
NM_001458.5(FLNC):c.6004+10G>A
|
rs2128938830
|
|
|
NM_001458.5(FLNC):c.6004+12dup
|
rs755640637
|
|
|
NM_001458.5(FLNC):c.6004+18C>T
|
|
|
|
NM_001458.5(FLNC):c.6004+3G>A
|
|
|
|
NM_001458.5(FLNC):c.6004+7G>C
|
rs771535289
|
|
|
NM_001458.5(FLNC):c.6005-10C>T
|
|
|
|
NM_001458.5(FLNC):c.6005-11A>T
|
|
|
|
NM_001458.5(FLNC):c.6005-12del
|
|
|
|
NM_001458.5(FLNC):c.6005-14C>G
|
rs1012108263
|
|
|
NM_001458.5(FLNC):c.6005-14C>T
|
|
|
|
NM_001458.5(FLNC):c.6005-7T>C
|
rs1585167904
|
|
|
NM_001458.5(FLNC):c.6006G>C (p.Gly2002=)
|
rs949178854
|
|
|
NM_001458.5(FLNC):c.6008T>A (p.Ile2003Asn)
|
|
|
|
NM_001458.5(FLNC):c.6009C>A (p.Ile2003=)
|
rs2128938866
|
|
|
NM_001458.5(FLNC):c.6009C>T (p.Ile2003=)
|
|
|
|
NM_001458.5(FLNC):c.6009del (p.Ser2004fs)
|
|
|
|
NM_001458.5(FLNC):c.601+13G>T
|
rs1244760459
|
|
|
NM_001458.5(FLNC):c.601+17G>A
|
rs2128933708
|
|
|
NM_001458.5(FLNC):c.601+19A>G
|
|
|
|
NM_001458.5(FLNC):c.601+20C>A
|
rs2128933710
|
|
|
NM_001458.5(FLNC):c.601+8G>C
|
|
|
|
NM_001458.5(FLNC):c.6012C>G (p.Ser2004=)
|
|
|
|
NM_001458.5(FLNC):c.601G>A (p.Gly201Ser)
|
rs1808062939
|
|
|
NM_001458.5(FLNC):c.601G>C (p.Gly201Arg)
|
|
|
|
NM_001458.5(FLNC):c.602-2A>C
|
|
|
|
NM_001458.5(FLNC):c.602-3C>T
|
rs774453069
|
|
|
NM_001458.5(FLNC):c.602-4C>T
|
|
|
|
NM_001458.5(FLNC):c.602-7T>A
|
|
|
|
NM_001458.5(FLNC):c.602-8C>T
|
rs2128934052
|
|
|
NM_001458.5(FLNC):c.6020C>T (p.Pro2007Leu)
|
rs2128938868
|
|
|
NM_001458.5(FLNC):c.6023A>G (p.Lys2008Arg)
|
|
|
|
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg)
|
rs1554400962
|
|
|
NM_001458.5(FLNC):c.6039C>A (p.His2013Gln)
|
|
|
|
NM_001458.5(FLNC):c.6039C>T (p.His2013=)
|
rs776613969
|
|
|
NM_001458.5(FLNC):c.6040G>C (p.Val2014Leu)
|
rs772477251
|
|
|
NM_001458.5(FLNC):c.6045G>A (p.Val2015=)
|
|
|
|
NM_001458.5(FLNC):c.6049G>T (p.Val2017Leu)
|
|
|
|
NM_001458.5(FLNC):c.6050T>G (p.Val2017Gly)
|
rs2128938884
|
|
|
NM_001458.5(FLNC):c.6054dup (p.Lys2019fs)
|
|
|
|
NM_001458.5(FLNC):c.6057G>A (p.Lys2019=)
|
rs1297126422
|
|
|
NM_001458.5(FLNC):c.6058A>T (p.Ser2020Cys)
|
rs537114122
|
|
|
NM_001458.5(FLNC):c.6062G>A (p.Gly2021Asp)
|
rs1439304519
|
|
|
NM_001458.5(FLNC):c.6063C>T (p.Gly2021=)
|
|
|
|
NM_001458.5(FLNC):c.6071del (p.Val2024fs)
|
rs2128938894
|
|
|
NM_001458.5(FLNC):c.6074C>T (p.Thr2025Ile)
|
rs767695121
|
|
|
NM_001458.5(FLNC):c.6095T>C (p.Leu2032Pro)
|
rs1554400980
|
|
|
NM_001458.5(FLNC):c.6099G>A (p.Val2033=)
|
|
|
|
NM_001458.5(FLNC):c.609C>A (p.Cys203Ter)
|
rs1455396332
|
|
|
NM_001458.5(FLNC):c.60G>A (p.Glu20=)
|
|
|
|
NM_001458.5(FLNC):c.6104C>T (p.Pro2035Leu)
|
rs1808884606
|
|
|
NM_001458.5(FLNC):c.6105A>G (p.Pro2035=)
|
rs2128938904
|
|
|
NM_001458.5(FLNC):c.6106T>G (p.Ser2036Ala)
|
|
|
|
NM_001458.5(FLNC):c.6108T>C (p.Ser2036=)
|
|
|
|
NM_001458.5(FLNC):c.6111G>A (p.Glu2037=)
|
rs746635805
|
|
|
NM_001458.5(FLNC):c.6112A>C (p.Ile2038Leu)
|
rs2128938907
|
|
|
NM_001458.5(FLNC):c.6114C>G (p.Ile2038Met)
|
rs559639511
|
|
|
NM_001458.5(FLNC):c.6121G>A (p.Ala2041Thr)
|
rs745842738
|
|
|
NM_001458.5(FLNC):c.6121G>T (p.Ala2041Ser)
|
rs745842738
|
|
|
NM_001458.5(FLNC):c.6122C>A (p.Ala2041Asp)
|
rs1585168065
|
|
|
NM_001458.5(FLNC):c.6129G>T (p.Lys2043Asn)
|
|
|
|
NM_001458.5(FLNC):c.6130G>T (p.Val2044Leu)
|
|
|
|
NM_001458.5(FLNC):c.6132G>T (p.Val2044=)
|
rs1808885875
|
|
|
NM_001458.5(FLNC):c.6133C>A (p.Arg2045=)
|
rs762748670
|
|
|
NM_001458.5(FLNC):c.6133C>T (p.Arg2045Trp)
|
|
|
|
NM_001458.5(FLNC):c.6134G>C (p.Arg2045Pro)
|
|
|
|
NM_001458.5(FLNC):c.6135G>C (p.Arg2045=)
|
rs1585168080
|
|
|
NM_001458.5(FLNC):c.6136G>A (p.Val2046Ile)
|
|
|
|
NM_001458.5(FLNC):c.6136G>T (p.Val2046Phe)
|
|
|
|
NM_001458.5(FLNC):c.6147G>T (p.Lys2049Asn)
|
|
|
|
NM_001458.5(FLNC):c.6148G>A (p.Gly2050Arg)
|
rs1585168103
|
|
|
NM_001458.5(FLNC):c.6152T>G (p.Leu2051Arg)
|
rs2128938929
|
|
|
NM_001458.5(FLNC):c.6160G>A (p.Gly2054Arg)
|
rs1808887627
|
|
|
NM_001458.5(FLNC):c.6160G>T (p.Gly2054Ter)
|
|
|
|
NM_001458.5(FLNC):c.6166A>G (p.Thr2056Ala)
|
rs1808887741
|
|
|
NM_001458.5(FLNC):c.6168A>G (p.Thr2056=)
|
rs1808887834
|
|
|
NM_001458.5(FLNC):c.6170T>C (p.Phe2057Ser)
|
rs1554400996
|
|
|
NM_001458.5(FLNC):c.6173A>G (p.Gln2058Arg)
|
|
|
|
NM_001458.5(FLNC):c.6177G>A (p.Val2059=)
|
|
|
|
NM_001458.5(FLNC):c.6178G>A (p.Ala2060Thr)
|
|
|
|
NM_001458.5(FLNC):c.6189C>A (p.Ile2063=)
|
|
|
|
NM_001458.5(FLNC):c.6190dup (p.Val2064fs)
|
rs1808888920
|
|
|
NM_001458.5(FLNC):c.6199C>T (p.Arg2067Cys)
|
rs754160175
|
|
|
NM_001458.5(FLNC):c.6202_6208+11del
|
|
|
|
NM_001458.5(FLNC):c.6205G>A (p.Ala2069Thr)
|
rs368562957
|
|
|
NM_001458.5(FLNC):c.6208+19A>G
|
|
|
|
NM_001458.5(FLNC):c.6208+3A>G
|
rs1585168169
|
|
|
NM_001458.5(FLNC):c.6208+4C>T
|
rs1554401011
|
|
|
NM_001458.5(FLNC):c.6208+8C>G
|
|
|
|
NM_001458.5(FLNC):c.6208G>A (p.Gly2070Ser)
|
|
|
|
NM_001458.5(FLNC):c.6209-12G>A
|
|
|
|
NM_001458.5(FLNC):c.6209-12G>T
|
|
|
|
NM_001458.5(FLNC):c.6209-15C>T
|
|
|
|
NM_001458.5(FLNC):c.6209-18T>C
|
rs1808910059
|
|
|
NM_001458.5(FLNC):c.6209-1G>C
|
|
|
|
NM_001458.5(FLNC):c.6209-7C>T
|
|
|
|
NM_001458.5(FLNC):c.6209G>A (p.Gly2070Asp)
|
|
|
|
NM_001458.5(FLNC):c.6210T>C (p.Gly2070=)
|
rs2128939065
|
|
|
NM_001458.5(FLNC):c.6212A>G (p.Tyr2071Cys)
|
rs2128939068
|
|
|
NM_001458.5(FLNC):c.6214G>A (p.Gly2072Arg)
|
rs2128939071
|
|
|
NM_001458.5(FLNC):c.6216G>A (p.Gly2072=)
|
rs200670345
|
|
|
NM_001458.5(FLNC):c.6217G>T (p.Gly2073Cys)
|
rs1366093926
|
|
|
NM_001458.5(FLNC):c.6218G>A (p.Gly2073Asp)
|
|
|
|
NM_001458.5(FLNC):c.6218G>C (p.Gly2073Ala)
|
rs922864783
|
|
|
NM_001458.5(FLNC):c.622G>C (p.Ala208Pro)
|
|
|
|
NM_001458.5(FLNC):c.6230G>A (p.Ser2077Asn)
|
|
|
|
NM_001458.5(FLNC):c.6238G>C (p.Gly2080Arg)
|
rs1808912488
|
|
|
NM_001458.5(FLNC):c.6239G>A (p.Gly2080Asp)
|
rs2128939083
|
|
|
NM_001458.5(FLNC):c.6240_6259del (p.Pro2081fs)
|
rs2128939085
|
|
|
NM_001458.5(FLNC):c.6242dup (p.Ser2082fs)
|
rs1585168573
|
|
|
NM_001458.5(FLNC):c.6244A>C (p.Ser2082Arg)
|
rs2128939089
|
|
|
NM_001458.5(FLNC):c.6246C>T (p.Ser2082=)
|
rs1554401089
|
|
|
NM_001458.5(FLNC):c.6248A>C (p.Lys2083Thr)
|
rs2128939092
|
|
|
NM_001458.5(FLNC):c.6250G>T (p.Val2084Leu)
|
|
|
|
NM_001458.5(FLNC):c.6251T>A (p.Val2084Glu)
|
rs2128939097
|
|
|
NM_001458.5(FLNC):c.6252G>A (p.Val2084=)
|
rs1386646158
|
|
|
NM_001458.5(FLNC):c.6256A>G (p.Ile2086Val)
|
|
|
|
NM_001458.5(FLNC):c.6257T>C (p.Ile2086Thr)
|
rs1808913302
|
|
|
NM_001458.5(FLNC):c.6260A>T (p.Asn2087Ile)
|
|
|
|
NM_001458.5(FLNC):c.6262T>C (p.Cys2088Arg)
|
|
|
|
NM_001458.5(FLNC):c.6263G>A (p.Cys2088Tyr)
|
|
|
|
NM_001458.5(FLNC):c.6275A>G (p.Glu2092Gly)
|
rs1808914162
|
|
|
NM_001458.5(FLNC):c.6277G>A (p.Asp2093Asn)
|
|
|
|
NM_001458.5(FLNC):c.6278A>C (p.Asp2093Ala)
|
rs749292393
|
|
|
NM_001458.5(FLNC):c.627G>A (p.Trp209Ter)
|
|
|
|
NM_001458.5(FLNC):c.6283A>T (p.Thr2095Ser)
|
rs373022507
|
|
|
NM_001458.5(FLNC):c.6285A>T (p.Thr2095=)
|
rs2128939108
|
|
|
NM_001458.5(FLNC):c.6292G>A (p.Val2098Ile)
|
rs2128939110
|
|
|
NM_001458.5(FLNC):c.6292G>C (p.Val2098Leu)
|
rs2128939110
|
|
|
NM_001458.5(FLNC):c.6296C>A (p.Thr2099Asn)
|
rs771090404
|
|
|
NM_001458.5(FLNC):c.6297C>T (p.Thr2099=)
|
|
|
|
NM_001458.5(FLNC):c.6307A>G (p.Thr2103Ala)
|
|
|
|
NM_001458.5(FLNC):c.6308C>T (p.Thr2103Ile)
|
|
|
|
NM_001458.5(FLNC):c.6310G>A (p.Glu2104Lys)
|
rs753069149
|
|
|
NM_001458.5(FLNC):c.6310G>C (p.Glu2104Gln)
|
rs753069149
|
|
|
NM_001458.5(FLNC):c.6316G>A (p.Gly2106Ser)
|
|
|
|
NM_001458.5(FLNC):c.6324C>T (p.Tyr2108=)
|
|
|
|
NM_001458.5(FLNC):c.6339del (p.Lys2113fs)
|
|
|
|
NM_001458.5(FLNC):c.6340T>C (p.Phe2114Leu)
|
|
|
|
NM_001458.5(FLNC):c.6345_6352del (p.Asp2116fs)
|
rs1808918080
|
|
|
NM_001458.5(FLNC):c.6348C>G (p.Asp2116Glu)
|
|
|
|
NM_001458.5(FLNC):c.6354C>A (p.His2118Gln)
|
|
|
|
NM_001458.5(FLNC):c.6358C>T (p.Pro2120Ser)
|
|
|
|
NM_001458.5(FLNC):c.6359C>G (p.Pro2120Arg)
|
rs1808918849
|
|
|
NM_001458.5(FLNC):c.635A>T (p.Asn212Ile)
|
rs756723697
|
|
|
NM_001458.5(FLNC):c.6360T>C (p.Pro2120=)
|
|
|
|
NM_001458.5(FLNC):c.6361+11G>A
|
|
|
|
NM_001458.5(FLNC):c.6361+11G>T
|
|
|
|
NM_001458.5(FLNC):c.6361+16G>A
|
|
|
|
NM_001458.5(FLNC):c.6361+5G>A
|
rs1808919247
|
|
|
NM_001458.5(FLNC):c.6362-10C>T
|
rs1350699492
|
|
|
NM_001458.5(FLNC):c.6362-14T>G
|
rs2128939162
|
|
|
NM_001458.5(FLNC):c.6362-1G>T
|
rs1808924231
|
|
|
NM_001458.5(FLNC):c.6362-3C>T
|
|
|
|
NM_001458.5(FLNC):c.6362-5T>G
|
rs2128939165
|
|
|
NM_001458.5(FLNC):c.6362-6C>T
|
rs1808923840
|
|
|
NM_001458.5(FLNC):c.6362-8C>T
|
|
|
|
NM_001458.5(FLNC):c.6362-9C>G
|
|
|
|
NM_001458.5(FLNC):c.6369C>T (p.Pro2123=)
|
rs752728262
|
|
|
NM_001458.5(FLNC):c.636C>T (p.Asn212=)
|
rs1370543390
|
|
|
NM_001458.5(FLNC):c.6374C>G (p.Thr2125Ser)
|
rs371455516
|
|
|
NM_001458.5(FLNC):c.6381_6386dup (p.Val2128_Thr2129dup)
|
rs1808924597
|
|
|
NM_001458.5(FLNC):c.6396C>T (p.Gly2132=)
|
|
|
|
NM_001458.5(FLNC):c.6397C>T (p.Arg2133Cys)
|
rs1186464414
|
|
|
NM_001458.5(FLNC):c.6398G>T (p.Arg2133Leu)
|
rs1808925531
|
|
|
NM_001458.5(FLNC):c.6405G>A (p.Lys2135=)
|
rs886043826
|
|
|
NM_001458.5(FLNC):c.6416C>G (p.Thr2139Ser)
|
|
|
|
NM_001458.5(FLNC):c.6417C>T (p.Thr2139=)
|
rs2128939183
|
|
|
NM_001458.5(FLNC):c.6418C>T (p.Arg2140Trp)
|
|
|
|
NM_001458.5(FLNC):c.6420G>A (p.Arg2140=)
|
rs2128939187
|
|
|
NM_001458.5(FLNC):c.6421C>A (p.Arg2141=)
|
|
|
|
NM_001458.5(FLNC):c.6421C>T (p.Arg2141Trp)
|
rs1808926604
|
|
|
NM_001458.5(FLNC):c.6422G>A (p.Arg2141Gln)
|
rs769106207
|
|
|
NM_001458.5(FLNC):c.6428A>G (p.Gln2143Arg)
|
rs774715089
|
|
|
NM_001458.5(FLNC):c.6429G>A (p.Gln2143=)
|
rs1434750571
|
|
|
NM_001458.5(FLNC):c.642C>G (p.Pro214=)
|
rs2291558
|
|
|
NM_001458.5(FLNC):c.6435T>C (p.Pro2145=)
|
|
|
|
NM_001458.5(FLNC):c.6442G>A (p.Ala2148Thr)
|
|
|
|
NM_001458.5(FLNC):c.6445A>G (p.Thr2149Ala)
|
|
|
|
NM_001458.5(FLNC):c.6447del (p.Ile2150fs)
|
rs1563003153
|
|
|
NM_001458.5(FLNC):c.6450C>A (p.Ile2150=)
|
rs776206819
|
|
|
NM_001458.5(FLNC):c.6451G>A (p.Gly2151Ser)
|
rs1563003159
|
|
|
NM_001458.5(FLNC):c.6451G>T (p.Gly2151Cys)
|
rs1563003159
|
|
|
NM_001458.5(FLNC):c.6453C>A (p.Gly2151=)
|
rs1808928125
|
|
|
NM_001458.5(FLNC):c.6459C>A (p.Thr2153=)
|
rs113618587
|
|
|
NM_001458.5(FLNC):c.6459C>G (p.Thr2153=)
|
rs113618587
|
|
|
NM_001458.5(FLNC):c.6460T>A (p.Cys2154Ser)
|
rs1554401153
|
|
|
NM_001458.5(FLNC):c.6462T>C (p.Cys2154=)
|
|
|
|
NM_001458.5(FLNC):c.6472C>T (p.Leu2158Phe)
|
|
|
|
NM_001458.5(FLNC):c.6474C>T (p.Leu2158=)
|
|
|
|
NM_001458.5(FLNC):c.6478A>T (p.Ile2160Phe)
|
rs879255640
|
|
|
NM_001458.5(FLNC):c.6479T>C (p.Ile2160Thr)
|
|
|
|
NM_001458.5(FLNC):c.6484+8C>T
|
|
|
|
NM_001458.5(FLNC):c.6485-6A>G
|
|
|
|
NM_001458.5(FLNC):c.6486A>G (p.Gly2162=)
|
rs1462242192
|
|
|
NM_001458.5(FLNC):c.6489C>T (p.Asn2163=)
|
|
|
|
NM_001458.5(FLNC):c.6490T>C (p.Trp2164Arg)
|
rs1808936908
|
|
|
NM_001458.5(FLNC):c.6491G>A (p.Trp2164Ter)
|
rs2128939246
|
|
|
NM_001458.5(FLNC):c.6492G>C (p.Trp2164Cys)
|
|
|
|
NM_001458.5(FLNC):c.6496C>T (p.Gln2166Ter)
|
|
|
|
NM_001458.5(FLNC):c.6497A>C (p.Gln2166Pro)
|
|
|
|
NM_001458.5(FLNC):c.6497A>T (p.Gln2166Leu)
|
|
|
|
NM_001458.5(FLNC):c.6499A>G (p.Met2167Val)
|
rs2128939248
|
|
|
NM_001458.5(FLNC):c.6500T>C (p.Met2167Thr)
|
|
|
|
NM_001458.5(FLNC):c.6510C>A (p.Ala2170=)
|
|
|
|
NM_001458.5(FLNC):c.6517C>A (p.Arg2173Ser)
|
|
|
|
NM_001458.5(FLNC):c.6517C>G (p.Arg2173Gly)
|
|
|
|
NM_001458.5(FLNC):c.6518G>A (p.Arg2173His)
|
|
|
|
NM_001458.5(FLNC):c.6521T>C (p.Leu2174Pro)
|
|
|
|
NM_001458.5(FLNC):c.6525A>G (p.Thr2175=)
|
|
|
|
NM_001458.5(FLNC):c.6526C>T (p.Arg2176Cys)
|
rs376885778
|
|
|
NM_001458.5(FLNC):c.6530C>T (p.Thr2177Ile)
|
|
|
|
NM_001458.5(FLNC):c.6531C>T (p.Thr2177=)
|
|
|
|
NM_001458.5(FLNC):c.6533T>C (p.Phe2178Ser)
|
rs1554401204
|
|
|
NM_001458.5(FLNC):c.6539G>A (p.Arg2180His)
|
rs1554401209
|
|
|
NM_001458.5(FLNC):c.6539G>C (p.Arg2180Pro)
|
rs1554401209
|
|
|
NM_001458.5(FLNC):c.6541AGC[1] (p.Ser2182del)
|
|
|
|
NM_001458.5(FLNC):c.6544A>G (p.Ser2182Gly)
|
|
|
|
NM_001458.5(FLNC):c.6559CGCACGGAG[3] (p.2187RTE[3])
|
rs1808941149
|
|
|
NM_001458.5(FLNC):c.6560G>A (p.Arg2187His)
|
|
|
|
NM_001458.5(FLNC):c.6561_6564del (p.Thr2188fs)
|
|
|
|
NM_001458.5(FLNC):c.6565G>A (p.Glu2189Lys)
|
|
|
|
NM_001458.5(FLNC):c.6568C>A (p.Arg2190Ser)
|
rs1474675847
|
|
|
NM_001458.5(FLNC):c.6569G>C (p.Arg2190Pro)
|
rs762680314
|
|
|
NM_001458.5(FLNC):c.656G>A (p.Arg219Gln)
|
|
|
|
NM_001458.5(FLNC):c.6573G>C (p.Thr2191=)
|
rs761680664
|
|
|
NM_001458.5(FLNC):c.6574G>A (p.Glu2192Lys)
|
|
|
|
NM_001458.5(FLNC):c.6589C>T (p.Arg2197Trp)
|
rs1808943188
|
|
|
NM_001458.5(FLNC):c.658G>C (p.Glu220Gln)
|
rs2128934071
|
|
|
NM_001458.5(FLNC):c.658del (p.Glu220fs)
|
rs2128934070
|
|
|
NM_001458.5(FLNC):c.6594C>A (p.Gly2198=)
|
rs754112206
|
|
|
NM_001458.5(FLNC):c.65C>G (p.Pro22Arg)
|
|
|
|
NM_001458.5(FLNC):c.65C>T (p.Pro22Leu)
|
|
|
|
NM_001458.5(FLNC):c.6602C>T (p.Thr2201Ile)
|
rs1585169205
|
|
|
NM_001458.5(FLNC):c.6606G>A (p.Lys2202=)
|
|
|
|
NM_001458.5(FLNC):c.6607C>G (p.Arg2203Gly)
|
rs758838323
|
|
|
NM_001458.5(FLNC):c.6609C>G (p.Arg2203=)
|
|
|
|
NM_001458.5(FLNC):c.6609C>T (p.Arg2203=)
|
rs374101315
|
|
|
NM_001458.5(FLNC):c.6612G>A (p.Glu2204=)
|
|
|
|
NM_001458.5(FLNC):c.6613G>A (p.Val2205Met)
|
|
|
|
NM_001458.5(FLNC):c.6616C>G (p.Arg2206Gly)
|
|
|
|
NM_001458.5(FLNC):c.6616C>T (p.Arg2206Trp)
|
rs867032077
|
|
|
NM_001458.5(FLNC):c.6617G>A (p.Arg2206Gln)
|
rs781671804
|
|
|
NM_001458.5(FLNC):c.6617G>C (p.Arg2206Pro)
|
rs781671804
|
|
|
NM_001458.5(FLNC):c.661G>A (p.Ala221Thr)
|
rs1585152566
|
|
|
NM_001458.5(FLNC):c.6620T>C (p.Val2207Ala)
|
|
|
|
NM_001458.5(FLNC):c.6621_6638del (p.Glu2208_Val2213del)
|
rs2128939305
|
|
|
NM_001458.5(FLNC):c.6622G>A (p.Glu2208Lys)
|
|
|
|
NM_001458.5(FLNC):c.6627G>A (p.Glu2209=)
|
|
|
|
NM_001458.5(FLNC):c.6632C>T (p.Thr2211Ile)
|
rs1808946811
|
|
|
NM_001458.5(FLNC):c.6634C>T (p.Gln2212Ter)
|
rs2128939316
|
|
|
NM_001458.5(FLNC):c.6646G>A (p.Asp2216Asn)
|
rs1808947656
|
|
|
NM_001458.5(FLNC):c.6648C>T (p.Asp2216=)
|
rs1362841989
|
|
|
NM_001458.5(FLNC):c.664A>G (p.Met222Val)
|
rs2128934074
|
|
|
NM_001458.5(FLNC):c.664A>T (p.Met222Leu)
|
rs2128934074
|
|
|
NM_001458.5(FLNC):c.6650C>T (p.Pro2217Leu)
|
|
|
|
NM_001458.5(FLNC):c.6654C>T (p.Phe2218=)
|
rs2128939330
|
|
|
NM_001458.5(FLNC):c.6656C>A (p.Pro2219His)
|
rs1808948567
|
|
|
NM_001458.5(FLNC):c.6660T>C (p.Ala2220=)
|
rs1808949010
|
|
|
NM_001458.5(FLNC):c.6661G>A (p.Val2221Met)
|
rs1198252355
|
|
|
NM_001458.5(FLNC):c.6662T>C (p.Val2221Ala)
|
rs2128939339
|
|
|
NM_001458.5(FLNC):c.6663G>C (p.Val2221=)
|
rs776372673
|
|
|
NM_001458.5(FLNC):c.6663_6664del (p.Phe2222fs)
|
rs2128939337
|
|
|
NM_001458.5(FLNC):c.6665T>C (p.Phe2222Ser)
|
rs1554401281
|
|
|
NM_001458.5(FLNC):c.6672C>T (p.Asp2224=)
|
|
|
|
NM_001458.5(FLNC):c.6673T>C (p.Phe2225Leu)
|
|
|
|
NM_001458.5(FLNC):c.6677T>A (p.Leu2226Gln)
|
|
|
|
NM_001458.5(FLNC):c.6682C>T (p.Arg2228Trp)
|
rs1196014760
|
|
|
NM_001458.5(FLNC):c.6685G>A (p.Glu2229Lys)
|
|
|
|
NM_001458.5(FLNC):c.6688C>T (p.Arg2230Cys)
|
rs374186437
|
|
|
NM_001458.5(FLNC):c.6689G>T (p.Arg2230Leu)
|
rs376035195
|
|
|
NM_001458.5(FLNC):c.669G>A (p.Gln223=)
|
rs1048868093
|
|
|
NM_001458.5(FLNC):c.66G>A (p.Pro22=)
|
rs1585147676
|
|
|
NM_001458.5(FLNC):c.6702C>G (p.Phe2234Leu)
|
rs370589662
|
|
|
NM_001458.5(FLNC):c.6707G>C (p.Ser2236Thr)
|
rs1808951957
|
|
|
NM_001458.5(FLNC):c.670C>T (p.Gln224Ter)
|
|
|
|
NM_001458.5(FLNC):c.6712A>G (p.Thr2238Ala)
|
|
|
|
NM_001458.5(FLNC):c.6713C>A (p.Thr2238Asn)
|
|
|
|
NM_001458.5(FLNC):c.6713C>T (p.Thr2238Ile)
|
rs1043618669
|
|
|
NM_001458.5(FLNC):c.6714C>G (p.Thr2238=)
|
rs10268251
|
|
|
NM_001458.5(FLNC):c.6715C>G (p.Arg2239Gly)
|
|
|
|
NM_001458.5(FLNC):c.6716G>A (p.Arg2239Gln)
|
rs1350832784
|
|
|
NM_001458.5(FLNC):c.6716G>T (p.Arg2239Leu)
|
rs1350832784
|
|
|
NM_001458.5(FLNC):c.671del (p.Gln224fs)
|
rs2128934076
|
|
|
NM_001458.5(FLNC):c.6721C>T (p.Gln2241Ter)
|
rs2128939369
|
|
|
NM_001458.5(FLNC):c.6727+11_6727+26dup
|
|
|
|
NM_001458.5(FLNC):c.6727+15C>A
|
rs2128939385
|
|
|
NM_001458.5(FLNC):c.6727+21_7065del
|
|
|
|
NM_001458.5(FLNC):c.6727+5G>A
|
|
|
|
NM_001458.5(FLNC):c.6727+9C>A
|
rs770803250
|
|
|
NM_001458.5(FLNC):c.6727+9C>G
|
rs770803250
|
|
|
NM_001458.5(FLNC):c.6728-15C>A
|
rs2128939431
|
|
|
NM_001458.5(FLNC):c.6728-15C>G
|
|
|
|
NM_001458.5(FLNC):c.6728-3C>T
|
|
|
|
NM_001458.5(FLNC):c.6728-7C>A
|
rs2128939437
|
|
|
NM_001458.5(FLNC):c.6728-8C>T
|
rs2128939436
|
|
|
NM_001458.5(FLNC):c.6729T>C (p.Gly2243=)
|
|
|
|
NM_001458.5(FLNC):c.6730G>A (p.Glu2244Lys)
|
rs1340208212
|
|
|
NM_001458.5(FLNC):c.6737G>A (p.Ser2246Asn)
|
|
|
|
NM_001458.5(FLNC):c.6737G>C (p.Ser2246Thr)
|
|
|
|
NM_001458.5(FLNC):c.6738C>T (p.Ser2246=)
|
rs1042317054
|
|
|
NM_001458.5(FLNC):c.673G>T (p.Ala225Ser)
|
rs1808127026
|
|
|
NM_001458.5(FLNC):c.6749_6758del (p.Met2250fs)
|
|
|
|
NM_001458.5(FLNC):c.674C>T (p.Ala225Val)
|
|
|
|
NM_001458.5(FLNC):c.6753_6754dup (p.Ala2252fs)
|
|
|
|
NM_001458.5(FLNC):c.6753dup (p.Ala2252fs)
|
rs1808965674
|
|
|
NM_001458.5(FLNC):c.675C>G (p.Ala225=)
|
rs780730123
|
|
|
NM_001458.5(FLNC):c.675C>T (p.Ala225=)
|
rs780730123
|
|
|
NM_001458.5(FLNC):c.6770dup (p.Ser2258fs)
|
|
|
|
NM_001458.5(FLNC):c.6774G>C (p.Ser2258=)
|
|
|
|
NM_001458.5(FLNC):c.6775G>A (p.Gly2259Ser)
|
|
|
|
NM_001458.5(FLNC):c.6777C>T (p.Gly2259=)
|
rs1057161787
|
|
|
NM_001458.5(FLNC):c.678C>A (p.Asp226Glu)
|
|
|
|
NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile)
|
rs758080422
|
|
|
NM_001458.5(FLNC):c.679G>A (p.Asp227Asn)
|
|
|
|
NM_001458.5(FLNC):c.6802G>T (p.Glu2268Ter)
|
rs1156444972
|
|
|
NM_001458.5(FLNC):c.6809A>T (p.Glu2270Val)
|
rs780658670
|
|
|
NM_001458.5(FLNC):c.6812del (p.Asp2271fs)
|
|
|
|
NM_001458.5(FLNC):c.6816C>A (p.Ser2272Arg)
|
rs375139827
|
|
|
NM_001458.5(FLNC):c.6823A>G (p.Ser2275Gly)
|
|
|
|
NM_001458.5(FLNC):c.6826G>A (p.Val2276Met)
|
rs1207179287
|
|
|
NM_001458.5(FLNC):c.6828G>A (p.Val2276=)
|
|
|
|
NM_001458.5(FLNC):c.6830G>A (p.Arg2277His)
|
rs1186556555
|
|
|
NM_001458.5(FLNC):c.6835G>A (p.Val2279Met)
|
|
|
|
NM_001458.5(FLNC):c.6835_6838del (p.Val2279fs)
|
|
|
|
NM_001458.5(FLNC):c.6841dup (p.Gln2281fs)
|
rs2128939496
|
|
|
NM_001458.5(FLNC):c.6843G>A (p.Gln2281=)
|
rs2128939497
|
|
|
NM_001458.5(FLNC):c.6845A>G (p.Glu2282Gly)
|
rs1808970524
|
|
|
NM_001458.5(FLNC):c.6846A>G (p.Glu2282=)
|
|
|
|
NM_001458.5(FLNC):c.6848T>C (p.Met2283Thr)
|
rs1174754248
|
|
|
NM_001458.5(FLNC):c.6855C>T (p.Pro2285=)
|
rs772323242
|
|
|
NM_001458.5(FLNC):c.6856C>T (p.His2286Tyr)
|
|
|
|
NM_001458.5(FLNC):c.6860C>T (p.Thr2287Met)
|
rs1434865362
|
|
|
NM_001458.5(FLNC):c.6862G>C (p.Val2288Leu)
|
rs953084143
|
|
|
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs)
|
rs2128939508
|
|
|
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter)
|
rs1585169831
|
|
|
NM_001458.5(FLNC):c.6890dup (p.Pro2298fs)
|
|
|
|
NM_001458.5(FLNC):c.6893C>A (p.Pro2298His)
|
|
|
|
NM_001458.5(FLNC):c.6893C>T (p.Pro2298Leu)
|
rs1382734231
|
|
|
NM_001458.5(FLNC):c.6905T>C (p.Phe2302Ser)
|
|
|
|
NM_001458.5(FLNC):c.6907C>T (p.Gln2303Ter)
|
|
|
|
NM_001458.5(FLNC):c.6909G>C (p.Gln2303His)
|
|
|
|
NM_001458.5(FLNC):c.690G>A (p.Gly230=)
|
rs775254295
|
|
|
NM_001458.5(FLNC):c.6912C>G (p.Phe2304Leu)
|
|
|
|
NM_001458.5(FLNC):c.6915T>C (p.Thr2305=)
|
rs1808975093
|
|
|
NM_001458.5(FLNC):c.6918G>T (p.Val2306=)
|
|
|
|
NM_001458.5(FLNC):c.691G>T (p.Val231Leu)
|
|
|
|
NM_001458.5(FLNC):c.6924G>T (p.Pro2308=)
|
|
|
|
NM_001458.5(FLNC):c.6932A>C (p.Glu2311Ala)
|
|
|
|
NM_001458.5(FLNC):c.6937G>A (p.Gly2313Ser)
|
|
|
|
NM_001458.5(FLNC):c.6938G>A (p.Gly2313Asp)
|
rs1808975955
|
|
|
NM_001458.5(FLNC):c.6946A>G (p.Lys2316Glu)
|
|
|
|
NM_001458.5(FLNC):c.6948G>A (p.Lys2316=)
|
rs1808976729
|
|
|
NM_001458.5(FLNC):c.6949G>A (p.Val2317Met)
|
|
|
|
NM_001458.5(FLNC):c.6952C>T (p.Arg2318Trp)
|
|
|
|
NM_001458.5(FLNC):c.6955del (p.Ala2319fs)
|
rs2128939548
|
|
|
NM_001458.5(FLNC):c.6957C>G (p.Ala2319=)
|
rs553639480
|
|
|
NM_001458.5(FLNC):c.6957del (p.Gly2320fs)
|
|
|
|
NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg)
|
rs867808948
|
|
|
NM_001458.5(FLNC):c.6963C>T (p.Gly2321=)
|
|
|
|
NM_001458.5(FLNC):c.6972G>A (p.Leu2324=)
|
rs1026201839
|
|
|
NM_001458.5(FLNC):c.6976C>T (p.Arg2326Ter)
|
rs748416758
|
|
|
NM_001458.5(FLNC):c.697C>T (p.Gln233Ter)
|
rs1554397464
|
|
|
NM_001458.5(FLNC):c.6982G>A (p.Val2328Met)
|
rs2128939561
|
|
|
NM_001458.5(FLNC):c.6987C>A (p.Ala2329=)
|
|
|
|
NM_001458.5(FLNC):c.699+18G>A
|
rs2128934092
|
|
|
NM_001458.5(FLNC):c.699+1G>A
|
rs1562991776
|
|
|
NM_001458.5(FLNC):c.699+3_699+7del
|
|
|
|
NM_001458.5(FLNC):c.699+7G>T
|
|
|
|
NM_001458.5(FLNC):c.699+9G>T
|
rs749055253
|
|
|
NM_001458.5(FLNC):c.699+9dup
|
|
|
|
NM_001458.5(FLNC):c.6990C>T (p.Gly2330=)
|
|
|
|
NM_001458.5(FLNC):c.6991G>T (p.Val2331Leu)
|
rs191288058
|
|
|
NM_001458.5(FLNC):c.6997+18A>G
|
|
|
|
NM_001458.5(FLNC):c.6997+19G>A
|
|
|
|
NM_001458.5(FLNC):c.6997+1G>A
|
|
|
|
NM_001458.5(FLNC):c.6997+1G>T
|
rs1585169973
|
|
|
NM_001458.5(FLNC):c.6997+7G>T
|
|
|
|
NM_001458.5(FLNC):c.6998-17A>G
|
|
|
|
NM_001458.5(FLNC):c.6998-19C>G
|
rs1187236355
|
|
|
NM_001458.5(FLNC):c.6998-20A>G
|
|
|
|
NM_001458.5(FLNC):c.6998-4C>G
|
|
|
|
NM_001458.5(FLNC):c.6998-6C>G
|
rs1336346022
|
|
|
NM_001458.5(FLNC):c.6998-9T>A
|
|
|
|
NM_001458.5(FLNC):c.6998-9T>G
|
|
|
|
NM_001458.5(FLNC):c.6998_6999insATCT (p.Glu2334fs)
|
|
|
|
NM_001458.5(FLNC):c.6999C>G (p.Ala2333=)
|
|
|
|
NM_001458.5(FLNC):c.700-18C>G
|
rs1305665823
|
|
|
NM_001458.5(FLNC):c.700-4G>A
|
|
|
|
NM_001458.5(FLNC):c.7000G>A (p.Glu2334Lys)
|
rs1808984299
|
|
|
NM_001458.5(FLNC):c.7000G>T (p.Glu2334Ter)
|
|
|
|
NM_001458.5(FLNC):c.7007G>T (p.Ser2336Ile)
|
|
|
|
NM_001458.5(FLNC):c.7014G>A (p.Trp2338Ter)
|
rs2128939606
|
|
|
NM_001458.5(FLNC):c.7016C>T (p.Thr2339Ile)
|
rs1554401463
|
|
|
NM_001458.5(FLNC):c.7018C>T (p.Arg2340Trp)
|
rs2128939610
|
|
|
NM_001458.5(FLNC):c.7023G>A (p.Glu2341=)
|
rs2128939611
|
|
|
NM_001458.5(FLNC):c.7025C>T (p.Ala2342Val)
|
rs2128939613
|
|
|
NM_001458.5(FLNC):c.7028G>A (p.Gly2343Asp)
|
|
|
|
NM_001458.5(FLNC):c.7030G>C (p.Ala2344Pro)
|
rs529917784
|
|
|
NM_001458.5(FLNC):c.7039C>T (p.Leu2347=)
|
|
|
|
NM_001458.5(FLNC):c.7055A>T (p.Glu2352Val)
|
|
|
|
NM_001458.5(FLNC):c.7066A>G (p.Lys2356Glu)
|
rs2128939626
|
|
|
NM_001458.5(FLNC):c.7068A>G (p.Lys2356=)
|
|
|
|
NM_001458.5(FLNC):c.7070C>T (p.Ala2357Val)
|
rs765841097
|
|
|
NM_001458.5(FLNC):c.7070_7072del (p.Ala2357del)
|
rs1554401479
|
|
|
NM_001458.5(FLNC):c.7075A>G (p.Ile2359Val)
|
rs1554401481
|
|
|
NM_001458.5(FLNC):c.7078G>A (p.Ala2360Thr)
|
rs1390516682
|
|
|
NM_001458.5(FLNC):c.7078G>C (p.Ala2360Pro)
|
|
|
|
NM_001458.5(FLNC):c.707C>T (p.Ala236Val)
|
rs771789906
|
|
|
NM_001458.5(FLNC):c.7080A>G (p.Ala2360=)
|
rs1554401489
|
|
|
NM_001458.5(FLNC):c.7082T>C (p.Phe2361Ser)
|
|
|
|
NM_001458.5(FLNC):c.7090C>A (p.Arg2364Ser)
|
rs374973240
|
|
|
NM_001458.5(FLNC):c.7099G>A (p.Gly2367Ser)
|
|
|
|
NM_001458.5(FLNC):c.7104C>T (p.Ser2368=)
|
rs1585170155
|
|
|
NM_001458.5(FLNC):c.7106G>A (p.Cys2369Tyr)
|
rs2128939641
|
|
|
NM_001458.5(FLNC):c.710C>T (p.Pro237Leu)
|
rs1585152751
|
|
|
NM_001458.5(FLNC):c.7110C>A (p.Gly2370=)
|
rs770288312
|
|
|
NM_001458.5(FLNC):c.7110C>T (p.Gly2370=)
|
|
|
|
NM_001458.5(FLNC):c.7118A>T (p.Tyr2373Phe)
|
rs1021731214
|
|
|
NM_001458.5(FLNC):c.7122C>T (p.Val2374=)
|
rs374711133
|
|
|
NM_001458.5(FLNC):c.7135+10C>T
|
|
|
|
NM_001458.5(FLNC):c.7135+13A>C
|
|
|
|
NM_001458.5(FLNC):c.7135+13A>G
|
|
|
|
NM_001458.5(FLNC):c.7135+13A>T
|
rs2128939658
|
|
|
NM_001458.5(FLNC):c.7135+14C>T
|
|
|
|
NM_001458.5(FLNC):c.7135+9C>A
|
rs2128939656
|
|
|
NM_001458.5(FLNC):c.7136-10C>G
|
rs982485834
|
|
|
NM_001458.5(FLNC):c.7136-5C>T
|
|
|
|
NM_001458.5(FLNC):c.7136-8C>T
|
rs2128939734
|
|
|
NM_001458.5(FLNC):c.7138G>A (p.Asp2380Asn)
|
rs1334300883
|
|
|
NM_001458.5(FLNC):c.7138G>C (p.Asp2380His)
|
rs1334300883
|
|
|
NM_001458.5(FLNC):c.7142A>G (p.Tyr2381Cys)
|
|
|
|
NM_001458.5(FLNC):c.7158G>A (p.Lys2386=)
|
rs1554401556
|
|
|
NM_001458.5(FLNC):c.7171C>T (p.His2391Tyr)
|
rs1554401558
|
|
|
NM_001458.5(FLNC):c.7176C>G (p.Ile2392Met)
|
rs1585170543
|
|
|
NM_001458.5(FLNC):c.7177C>G (p.Pro2393Ala)
|
rs1554401559
|
|
|
NM_001458.5(FLNC):c.7178C>G (p.Pro2393Arg)
|
|
|
|
NM_001458.5(FLNC):c.7178C>T (p.Pro2393Leu)
|
rs2128939746
|
|
|
NM_001458.5(FLNC):c.7180G>C (p.Asp2394His)
|
rs1554401561
|
|
|
NM_001458.5(FLNC):c.7186C>T (p.Pro2396Ser)
|
rs1809007749
|
|
|
NM_001458.5(FLNC):c.7195G>A (p.Val2399Met)
|
rs2128939752
|
|
|
NM_001458.5(FLNC):c.7197G>A (p.Val2399=)
|
rs1170465988
|
|
|
NM_001458.5(FLNC):c.7198C>T (p.Pro2400Ser)
|
rs1390223951
|
|
|
NM_001458.5(FLNC):c.719T>C (p.Ile240Thr)
|
rs778626535
|
|
|
NM_001458.5(FLNC):c.71C>A (p.Thr24Lys)
|
rs1251048006
|
|
|
NM_001458.5(FLNC):c.7204G>C (p.Ala2402Pro)
|
|
|
|
NM_001458.5(FLNC):c.7207T>C (p.Ser2403Pro)
|
|
|
|
NM_001458.5(FLNC):c.720_721inv (p.Val241Met)
|
|
|
|
NM_001458.5(FLNC):c.7210C>T (p.Leu2404Phe)
|
rs764034824
|
|
|
NM_001458.5(FLNC):c.7212C>T (p.Leu2404=)
|
rs1809008715
|
|
|
NM_001458.5(FLNC):c.7214C>T (p.Ser2405Leu)
|
rs2128939759
|
|
|
NM_001458.5(FLNC):c.7217A>T (p.Asp2406Val)
|
|
|
|
NM_001458.5(FLNC):c.7224T>G (p.Ala2408=)
|
rs2128939770
|
|
|
NM_001458.5(FLNC):c.7230T>C (p.Arg2410=)
|
|
|
|
NM_001458.5(FLNC):c.7233C>T (p.Leu2411=)
|
|
|
|
NM_001458.5(FLNC):c.7235C>T (p.Thr2412Ile)
|
|
|
|
NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)
|
|
|
|
NM_001458.5(FLNC):c.7238T>C (p.Val2413Ala)
|
|
|
|
NM_001458.5(FLNC):c.7251+16G>A
|
rs573245805
|
|
|
NM_001458.5(FLNC):c.7251+16G>C
|
|
|
|
NM_001458.5(FLNC):c.7251+16G>T
|
|
|
|
NM_001458.5(FLNC):c.7251+18G>T
|
|
|
|
NM_001458.5(FLNC):c.7251+1G>A
|
rs1554401581
|
|
|
NM_001458.5(FLNC):c.7251+1G>T
|
rs1554401581
|
|
|
NM_001458.5(FLNC):c.7251+7G>A
|
rs1809010910
|
|
|
NM_001458.5(FLNC):c.7252-12T>C
|
|
|
|
NM_001458.5(FLNC):c.7252-13G>A
|
|
|
|
NM_001458.5(FLNC):c.7252-14C>T
|
|
|
|
NM_001458.5(FLNC):c.7260G>A (p.Gly2420=)
|
rs755831714
|
|
|
NM_001458.5(FLNC):c.7260G>T (p.Gly2420=)
|
|
|
|
NM_001458.5(FLNC):c.7261del (p.Leu2421fs)
|
rs2128940107
|
|
|
NM_001458.5(FLNC):c.7263C>G (p.Leu2421=)
|
rs2128940109
|
|
|
NM_001458.5(FLNC):c.7268T>A (p.Val2423Glu)
|
|
|
|
NM_001458.5(FLNC):c.726C>T (p.Asp242=)
|
|
|
|
NM_001458.5(FLNC):c.7273_7274insTTCAC (p.Gln2425fs)
|
|
|
|
NM_001458.5(FLNC):c.7275G>C (p.Gln2425His)
|
rs2128940112
|
|
|
NM_001458.5(FLNC):c.7276_7281del (p.Pro2426_Ala2427del)
|
|
|
|
NM_001458.5(FLNC):c.7278A>G (p.Pro2426=)
|
rs2128940114
|
|
|
NM_001458.5(FLNC):c.7294C>T (p.Gln2432Ter)
|
rs1554401756
|
|
|
NM_001458.5(FLNC):c.72G>A (p.Thr24=)
|
|
|
|
NM_001458.5(FLNC):c.7303G>A (p.Gly2435Ser)
|
|
|
|
NM_001458.5(FLNC):c.7309dup (p.Arg2437fs)
|
rs2128940130
|
|
|
NM_001458.5(FLNC):c.7313G>A (p.Gly2438Asp)
|
rs2128940134
|
|
|
NM_001458.5(FLNC):c.7313_7330dup (p.Gly2438_Arg2443dup)
|
rs1554401762
|
|
|
NM_001458.5(FLNC):c.7318A>G (p.Ile2440Val)
|
|
|
|
NM_001458.5(FLNC):c.7319T>C (p.Ile2440Thr)
|
rs764628080
|
|
|
NM_001458.5(FLNC):c.7323T>A (p.Asp2441Glu)
|
rs752106552
|
|
|
NM_001458.5(FLNC):c.7326C>T (p.Ala2442=)
|
|
|
|
NM_001458.5(FLNC):c.7327C>T (p.Arg2443Trp)
|
rs1585171621
|
|
|
NM_001458.5(FLNC):c.7328G>C (p.Arg2443Pro)
|
rs370293647
|
|
|
NM_001458.5(FLNC):c.7335C>T (p.His2445=)
|
|
|
|
NM_001458.5(FLNC):c.7338_7339del (p.Pro2447fs)
|
rs1585171628
|
|
|
NM_001458.5(FLNC):c.7339C>A (p.Pro2447Thr)
|
rs1554401770
|
|
|
NM_001458.5(FLNC):c.7341del (p.Ser2448fs)
|
|
|
|
NM_001458.5(FLNC):c.7342T>G (p.Ser2448Ala)
|
rs2128940146
|
|
|
NM_001458.5(FLNC):c.7343C>T (p.Ser2448Leu)
|
rs778500387
|
|
|
NM_001458.5(FLNC):c.7346G>A (p.Gly2449Glu)
|
rs1322256692
|
|
|
NM_001458.5(FLNC):c.7347G>A (p.Gly2449=)
|
rs2128940153
|
|
|
NM_001458.5(FLNC):c.7348G>A (p.Ala2450Thr)
|
|
|
|
NM_001458.5(FLNC):c.7349C>A (p.Ala2450Asp)
|
rs1809071622
|
|
|
NM_001458.5(FLNC):c.7365C>A (p.Tyr2455Ter)
|
rs540386120
|
|
|
NM_001458.5(FLNC):c.7371del (p.Glu2458fs)
|
rs1554401780
|
|
|
NM_001458.5(FLNC):c.7379A>G (p.Asp2460Gly)
|
rs2128940164
|
|
|
NM_001458.5(FLNC):c.7380C>T (p.Asp2460=)
|
rs1203087255
|
|
|
NM_001458.5(FLNC):c.7384+12C>G
|
|
|
|
NM_001458.5(FLNC):c.7384+12C>T
|
|
|
|
NM_001458.5(FLNC):c.7384+17C>G
|
rs2128940177
|
|
|
NM_001458.5(FLNC):c.7384+2T>C
|
rs112941619
|
|
|
NM_001458.5(FLNC):c.7385-10T>C
|
rs1585171813
|
|
|
NM_001458.5(FLNC):c.7385-15A>C
|
|
|
|
NM_001458.5(FLNC):c.7385-3C>A
|
|
|
|
NM_001458.5(FLNC):c.7385-4A>G
|
|
|
|
NM_001458.5(FLNC):c.7385-7T>C
|
|
|
|
NM_001458.5(FLNC):c.7386C>G (p.Asp2462Glu)
|
rs2128940208
|
|
|
NM_001458.5(FLNC):c.7387A>G (p.Lys2463Glu)
|
|
|
|
NM_001458.5(FLNC):c.7388A>G (p.Lys2463Arg)
|
|
|
|
NM_001458.5(FLNC):c.7389G>A (p.Lys2463=)
|
rs2128940211
|
|
|
NM_001458.5(FLNC):c.7393A>G (p.Thr2465Ala)
|
|
|
|
NM_001458.5(FLNC):c.7399C>G (p.Arg2467Gly)
|
|
|
|
NM_001458.5(FLNC):c.7400G>C (p.Arg2467Pro)
|
rs775910704
|
|
|
NM_001458.5(FLNC):c.7401C>T (p.Arg2467=)
|
|
|
|
NM_001458.5(FLNC):c.7402T>A (p.Phe2468Ile)
|
|
|
|
NM_001458.5(FLNC):c.7410C>T (p.Pro2470=)
|
|
|
|
NM_001458.5(FLNC):c.7411C>A (p.His2471Asn)
|
rs768896980
|
|
|
NM_001458.5(FLNC):c.7414G>A (p.Glu2472Lys)
|
rs948675422
|
|
|
NM_001458.5(FLNC):c.7414G>T (p.Glu2472Ter)
|
rs948675422
|
|
|
NM_001458.5(FLNC):c.7416G>A (p.Glu2472=)
|
rs1241565627
|
|
|
NM_001458.5(FLNC):c.7420G>C (p.Gly2474Arg)
|
|
|
|
NM_001458.5(FLNC):c.7421G>T (p.Gly2474Val)
|
|
|
|
NM_001458.5(FLNC):c.7427A>G (p.His2476Arg)
|
rs1563005164
|
|
|
NM_001458.5(FLNC):c.7430C>A (p.Ser2477Tyr)
|
|
|
|
NM_001458.5(FLNC):c.7430C>T (p.Ser2477Phe)
|
rs2128940229
|
|
|
NM_001458.5(FLNC):c.7435G>A (p.Asp2479Asn)
|
|
|
|
NM_001458.5(FLNC):c.7439T>G (p.Val2480Gly)
|
|
|
|
NM_001458.5(FLNC):c.743A>T (p.His248Leu)
|
|
|
|
NM_001458.5(FLNC):c.7440C>T (p.Val2480=)
|
rs1585171905
|
|
|
NM_001458.5(FLNC):c.7443G>A (p.Lys2481=)
|
rs1457672866
|
|
|
NM_001458.5(FLNC):c.7446C>T (p.Phe2482=)
|
|
|
|
NM_001458.5(FLNC):c.7454C>T (p.Ala2485Val)
|
|
|
|
NM_001458.5(FLNC):c.7455C>G (p.Ala2485=)
|
rs1554401819
|
|
|
NM_001458.5(FLNC):c.7459A>G (p.Ile2487Val)
|
|
|
|
NM_001458.5(FLNC):c.7462C>T (p.Pro2488Ser)
|
rs1563005191
|
|
|
NM_001458.5(FLNC):c.7466G>A (p.Gly2489Glu)
|
rs2128940243
|
|
|
NM_001458.5(FLNC):c.7483C>G (p.Arg2495Gly)
|
|
|
|
NM_001458.5(FLNC):c.7483C>T (p.Arg2495Cys)
|
rs374925943
|
|
|
NM_001458.5(FLNC):c.7486G>A (p.Val2496Ile)
|
rs200295337
|
|
|
NM_001458.5(FLNC):c.7486G>C (p.Val2496Leu)
|
|
|
|
NM_001458.5(FLNC):c.7486G>T (p.Val2496Phe)
|
rs200295337
|
|
|
NM_001458.5(FLNC):c.7487T>C (p.Val2496Ala)
|
rs1284210024
|
|
|
NM_001458.5(FLNC):c.7495C>T (p.Gln2499Ter)
|
|
|
|
NM_001458.5(FLNC):c.7496_7497insTGCT (p.Gln2499fs)
|
rs1554401830
|
|
|
NM_001458.5(FLNC):c.7504G>A (p.Ala2502Thr)
|
rs2128940257
|
|
|
NM_001458.5(FLNC):c.7507G>A (p.Gly2503Arg)
|
rs2128940258
|
|
|
NM_001458.5(FLNC):c.7509G>A (p.Gly2503=)
|
|
|
|
NM_001458.5(FLNC):c.7510G>A (p.Asp2504Asn)
|
|
|
|
NM_001458.5(FLNC):c.7510del (p.Asp2504fs)
|
rs2128940259
|
|
|
NM_001458.5(FLNC):c.7513C>A (p.Pro2505Thr)
|
|
|
|
NM_001458.5(FLNC):c.7516G>A (p.Gly2506Ser)
|
rs1809085479
|
|
|
NM_001458.5(FLNC):c.7516G>C (p.Gly2506Arg)
|
rs1809085479
|
|
|
NM_001458.5(FLNC):c.751A>G (p.Met251Val)
|
|
|
|
NM_001458.5(FLNC):c.7523T>G (p.Val2508Gly)
|
rs2128940265
|
|
|
NM_001458.5(FLNC):c.7526_7527delinsAG (p.Ser2509Ter)
|
rs1809085817
|
|
|
NM_001458.5(FLNC):c.7528G>C (p.Ala2510Pro)
|
|
|
|
NM_001458.5(FLNC):c.7536_7548del (p.Pro2513fs)
|
rs1554401837
|
|
|
NM_001458.5(FLNC):c.7539T>C (p.Pro2513=)
|
|
|
|
NM_001458.5(FLNC):c.7551_7552del (p.Gly2518fs)
|
|
|
|
NM_001458.5(FLNC):c.7553G>A (p.Gly2518Asp)
|
|
|
|
NM_001458.5(FLNC):c.7556C>A (p.Thr2519Asn)
|
|
|
|
NM_001458.5(FLNC):c.7559C>A (p.Thr2520Asn)
|
rs1809086992
|
|
|
NM_001458.5(FLNC):c.7561+11G>A
|
|
|
|
NM_001458.5(FLNC):c.7561+14G>A
|
|
|
|
NM_001458.5(FLNC):c.7561+3G>A
|
|
|
|
NM_001458.5(FLNC):c.7561G>C (p.Gly2521Arg)
|
|
|
|
NM_001458.5(FLNC):c.7562-11C>G
|
|
|
|
NM_001458.5(FLNC):c.7562-1G>A
|
rs2128940335
|
|
|
NM_001458.5(FLNC):c.7562-1_7612dup
|
|
|
|
NM_001458.5(FLNC):c.7562-2_7581dup
|
rs1809097279
|
|
|
NM_001458.5(FLNC):c.7562-3C>G
|
|
|
|
NM_001458.5(FLNC):c.7562-3C>T
|
rs1358745378
|
|
|
NM_001458.5(FLNC):c.7565T>C (p.Val2522Ala)
|
|
|
|
NM_001458.5(FLNC):c.7571del (p.Ser2523_Ser2524insTer)
|
rs1809097778
|
|
|
NM_001458.5(FLNC):c.7575G>A (p.Glu2525=)
|
rs2128940338
|
|
|
NM_001458.5(FLNC):c.7580T>G (p.Ile2527Ser)
|
rs749891076
|
|
|
NM_001458.5(FLNC):c.7581C>T (p.Ile2527=)
|
rs988685183
|
|
|
NM_001458.5(FLNC):c.7584G>A (p.Val2528=)
|
rs1809098607
|
|
|
NM_001458.5(FLNC):c.7587C>T (p.Asn2529=)
|
rs2128940345
|
|
|
NM_001458.5(FLNC):c.7590C>T (p.Thr2530=)
|
|
|
|
NM_001458.5(FLNC):c.7593G>A (p.Leu2531=)
|
|
|
|
NM_001458.5(FLNC):c.7596T>A (p.Asn2532Lys)
|
rs377522797
|
|
|
NM_001458.5(FLNC):c.7597G>A (p.Ala2533Thr)
|
|
|
|
NM_001458.5(FLNC):c.7597G>C (p.Ala2533Pro)
|
|
|
|
NM_001458.5(FLNC):c.7600G>A (p.Gly2534Ser)
|
|
|
|
NM_001458.5(FLNC):c.7600G>T (p.Gly2534Cys)
|
rs372504725
|
|
|
NM_001458.5(FLNC):c.7601G>T (p.Gly2534Val)
|
rs778822005
|
|
|
NM_001458.5(FLNC):c.7606G>A (p.Gly2536Arg)
|
rs1809100312
|
|
|
NM_001458.5(FLNC):c.7606G>C (p.Gly2536Arg)
|
rs1809100312
|
|
|
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr)
|
rs201486752
|
|
|
NM_001458.5(FLNC):c.7610C>A (p.Ala2537Asp)
|
rs1394723230
|
|
|
NM_001458.5(FLNC):c.7624A>G (p.Ile2542Val)
|
|
|
|
NM_001458.5(FLNC):c.7626T>C (p.Ile2542=)
|
rs1554401890
|
|
|
NM_001458.5(FLNC):c.7626T>G (p.Ile2542Met)
|
rs1554401890
|
|
|
NM_001458.5(FLNC):c.7630G>A (p.Gly2544Ser)
|
rs2128940366
|
|
|
NM_001458.5(FLNC):c.7632C>T (p.Gly2544=)
|
rs1297781614
|
|
|
NM_001458.5(FLNC):c.7635C>T (p.Pro2545=)
|
rs2128940367
|
|
|
NM_001458.5(FLNC):c.7636T>A (p.Ser2546Thr)
|
rs200673841
|
|
|
NM_001458.5(FLNC):c.7648C>T (p.Leu2550=)
|
rs1585172378
|
|
|
NM_001458.5(FLNC):c.7649T>C (p.Leu2550Pro)
|
|
|
|
NM_001458.5(FLNC):c.7653C>T (p.Asp2551=)
|
rs2128940372
|
|
|
NM_001458.5(FLNC):c.7656T>C (p.Cys2552=)
|
|
|
|
NM_001458.5(FLNC):c.7659G>C (p.Arg2553=)
|
rs1490653520
|
|
|
NM_001458.5(FLNC):c.7660del (p.Glu2554fs)
|
rs1809103569
|
|
|
NM_001458.5(FLNC):c.7664G>C (p.Cys2555Ser)
|
rs1585172407
|
|
|
NM_001458.5(FLNC):c.7666C>G (p.Pro2556Ala)
|
rs765967888
|
|
|
NM_001458.5(FLNC):c.7667C>T (p.Pro2556Leu)
|
rs1809104361
|
|
|
NM_001458.5(FLNC):c.7679T>C (p.Val2560Ala)
|
rs931678640
|
|
|
NM_001458.5(FLNC):c.7689T>C (p.Tyr2563=)
|
|
|
|
NM_001458.5(FLNC):c.7690A>C (p.Thr2564Pro)
|
|
|
|
NM_001458.5(FLNC):c.7690A>T (p.Thr2564Ser)
|
|
|
|
NM_001458.5(FLNC):c.7691C>T (p.Thr2564Ile)
|
rs1405868407
|
|
|
NM_001458.5(FLNC):c.7693C>T (p.Pro2565Ser)
|
rs1554401906
|
|
|
NM_001458.5(FLNC):c.7696A>G (p.Met2566Val)
|
|
|
|
NM_001458.5(FLNC):c.7697T>C (p.Met2566Thr)
|
|
|
|
NM_001458.5(FLNC):c.7699G>A (p.Ala2567Thr)
|
|
|
|
NM_001458.5(FLNC):c.76A>G (p.Lys26Glu)
|
rs1562988843
|
|
|
NM_001458.5(FLNC):c.7703C>T (p.Pro2568Leu)
|
|
|
|
NM_001458.5(FLNC):c.7709A>C (p.Asn2570Thr)
|
|
|
|
NM_001458.5(FLNC):c.7719T>C (p.Ile2573=)
|
|
|
|
NM_001458.5(FLNC):c.7727A>C (p.Lys2576Thr)
|
rs1554401912
|
|
|
NM_001458.5(FLNC):c.7728G>T (p.Lys2576Asn)
|
|
|
|
NM_001458.5(FLNC):c.7748T>C (p.Ile2583Thr)
|
|
|
|
NM_001458.5(FLNC):c.774C>G (p.Pro258=)
|
rs2128934181
|
|
|
NM_001458.5(FLNC):c.774del (p.Lys259fs)
|
rs1554397506
|
|
|
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs)
|
rs2128940399
|
|
|
NM_001458.5(FLNC):c.7752G>A (p.Val2584=)
|
rs1809108536
|
|
|
NM_001458.5(FLNC):c.7757_7758delinsA (p.Ser2586fs)
|
rs1809109008
|
|
|
NM_001458.5(FLNC):c.7765A>G (p.Lys2589Glu)
|
rs1809109347
|
|
|
NM_001458.5(FLNC):c.7768G>T (p.Ala2590Ser)
|
rs1354641654
|
|
|
NM_001458.5(FLNC):c.7770C>A (p.Ala2590=)
|
rs2128940407
|
|
|
NM_001458.5(FLNC):c.7772A>G (p.Lys2591Arg)
|
|
|
|
NM_001458.5(FLNC):c.7774G>T (p.Val2592Phe)
|
rs1268909811
|
|
|
NM_001458.5(FLNC):c.7776C>T (p.Val2592=)
|
rs2128940410
|
|
|
NM_001458.5(FLNC):c.7780+11G>C
|
|
|
|
NM_001458.5(FLNC):c.7780+12T>C
|
rs1809110821
|
|
|
NM_001458.5(FLNC):c.7780+15G>C
|
rs1428983586
|
|
|
NM_001458.5(FLNC):c.7780+15G>T
|
|
|
|
NM_001458.5(FLNC):c.7780+16G>A
|
|
|
|
NM_001458.5(FLNC):c.7780+16G>C
|
|
|
|
NM_001458.5(FLNC):c.7780+19G>A
|
|
|
|
NM_001458.5(FLNC):c.7780+19G>T
|
|
|
|
NM_001458.5(FLNC):c.7780+1G>A
|
rs1563005607
|
|
|
NM_001458.5(FLNC):c.7780+1G>C
|
rs1563005607
|
|
|
NM_001458.5(FLNC):c.7780+1G>T
|
|
|
|
NM_001458.5(FLNC):c.7780+2T>A
|
|
|
|
NM_001458.5(FLNC):c.7780+2T>C
|
rs1809110247
|
|
|
NM_001458.5(FLNC):c.7780+3G>C
|
|
|
|
NM_001458.5(FLNC):c.7781-12C>A
|
rs767606683
|
|
|
NM_001458.5(FLNC):c.7781-18C>T
|
|
|
|
NM_001458.5(FLNC):c.7781-3C>T
|
rs1444704657
|
|
|
NM_001458.5(FLNC):c.7781-4T>C
|
rs2128940565
|
|
|
NM_001458.5(FLNC):c.7781-8C>G
|
rs1363938739
|
|
|
NM_001458.5(FLNC):c.7781-9A>G
|
rs531760477
|
|
|
NM_001458.5(FLNC):c.7782T>C (p.Gly2594=)
|
rs2128940567
|
|
|
NM_001458.5(FLNC):c.778del (p.Ala260fs)
|
|
|
|
NM_001458.5(FLNC):c.7791G>A (p.Leu2597=)
|
|
|
|
NM_001458.5(FLNC):c.7798G>A (p.Gly2600Ser)
|
|
|
|
NM_001458.5(FLNC):c.77A>C (p.Lys26Thr)
|
rs2128932111
|
|
|
NM_001458.5(FLNC):c.7813G>A (p.Glu2605Lys)
|
rs1480530077
|
|
|
NM_001458.5(FLNC):c.7819T>G (p.Ser2607Ala)
|
rs1809143753
|
|
|
NM_001458.5(FLNC):c.7832T>G (p.Val2611Gly)
|
rs2128940575
|
|
|
NM_001458.5(FLNC):c.7836G>C (p.Glu2612Asp)
|
|
|
|
NM_001458.5(FLNC):c.783G>C (p.Lys261Asn)
|
rs976229219
|
|
|
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs)
|
rs1554402003
|
|
|
NM_001458.5(FLNC):c.7847A>C (p.Lys2616Thr)
|
rs1585172975
|
|
|
NM_001458.5(FLNC):c.7858A>T (p.Ser2620Cys)
|
|
|
|
NM_001458.5(FLNC):c.7863G>A (p.Arg2621=)
|
|
|
|
NM_001458.5(FLNC):c.7864G>T (p.Gly2622Cys)
|
rs2128940583
|
|
|
NM_001458.5(FLNC):c.7866C>T (p.Gly2622=)
|
|
|
|
NM_001458.5(FLNC):c.7869C>T (p.Ser2623=)
|
|
|
|
NM_001458.5(FLNC):c.786C>G (p.Leu262=)
|
|
|
|
NM_001458.5(FLNC):c.7893CTC[1] (p.Ser2633del)
|
rs767277303
|
|
|
NM_001458.5(FLNC):c.7906A>T (p.Ser2636Cys)
|
rs1563005954
|
|
|
NM_001458.5(FLNC):c.7907G>A (p.Ser2636Asn)
|
|
|
|
NM_001458.5(FLNC):c.7907G>T (p.Ser2636Ile)
|
rs1424306829
|
|
|
NM_001458.5(FLNC):c.7911G>A (p.Lys2637=)
|
|
|
|
NM_001458.5(FLNC):c.7915G>A (p.Val2639Met)
|
rs2128940599
|
|
|
NM_001458.5(FLNC):c.7917G>A (p.Val2639=)
|
|
|
|
NM_001458.5(FLNC):c.7921C>T (p.Arg2641Trp)
|
rs750629528
|
|
|
NM_001458.5(FLNC):c.7929T>C (p.Pro2643=)
|
|
|
|
NM_001458.5(FLNC):c.7929del (p.Leu2645fs)
|
rs1554402015
|
|
|
NM_001458.5(FLNC):c.7931G>C (p.Gly2644Ala)
|
rs2128940603
|
|
|
NM_001458.5(FLNC):c.7934T>C (p.Leu2645Pro)
|
|
|
|
NM_001458.5(FLNC):c.7935G>A (p.Leu2645=)
|
rs754397217
|
|
|
NM_001458.5(FLNC):c.7949T>A (p.Val2650Glu)
|
|
|
|
NM_001458.5(FLNC):c.794del (p.Gly265fs)
|
rs2128934191
|
|
|
NM_001458.5(FLNC):c.7956G>C (p.Gln2652His)
|
|
|
|
NM_001458.5(FLNC):c.796G>A (p.Ala266Thr)
|
|
|
|
NM_001458.5(FLNC):c.7979G>A (p.Cys2660Tyr)
|
|
|
|
NM_001458.5(FLNC):c.797C>T (p.Ala266Val)
|
|
|
|
NM_001458.5(FLNC):c.7980C>A (p.Cys2660Ter)
|
rs2128940614
|
|
|
NM_001458.5(FLNC):c.7982G>A (p.Ser2661Asn)
|
|
|
|
NM_001458.5(FLNC):c.798C>T (p.Ala266=)
|
rs1350220887
|
|
|
NM_001458.5(FLNC):c.7990+10G>A
|
rs745488329
|
|
|
NM_001458.5(FLNC):c.7990+10G>C
|
rs745488329
|
|
|
NM_001458.5(FLNC):c.7990+11G>A
|
|
|
|
NM_001458.5(FLNC):c.7990+12G>C
|
|
|
|
NM_001458.5(FLNC):c.7990+15del
|
rs755806046
|
|
|
NM_001458.5(FLNC):c.7990+15dup
|
|
|
|
NM_001458.5(FLNC):c.7990+19G>T
|
rs534098005
|
|
|
NM_001458.5(FLNC):c.7990+20C>T
|
rs1554402030
|
|
|
NM_001458.5(FLNC):c.7991-16C>T
|
|
|
|
NM_001458.5(FLNC):c.7991-17T>G
|
|
|
|
NM_001458.5(FLNC):c.7991-3C>T
|
|
|
|
NM_001458.5(FLNC):c.7991-4C>G
|
rs1303400196
|
|
|
NM_001458.5(FLNC):c.7991-8C>T
|
|
|
|
NM_001458.5(FLNC):c.7995C>A (p.Thr2665=)
|
rs2128940644
|
|
|
NM_001458.5(FLNC):c.7998C>T (p.Asn2666=)
|
rs778253796
|
|
|
NM_001458.5(FLNC):c.7999ATG[2] (p.Met2669del)
|
rs1809158348
|
|
|
NM_001458.5(FLNC):c.8002A>G (p.Met2668Val)
|
|
|
|
NM_001458.5(FLNC):c.8007G>A (p.Met2669Ile)
|
|
|
|
NM_001458.5(FLNC):c.8009T>C (p.Val2670Ala)
|
|
|
|
NM_001458.5(FLNC):c.8014G>A (p.Val2672Met)
|
|
|
|
NM_001458.5(FLNC):c.8016G>A (p.Val2672=)
|
|
|
|
NM_001458.5(FLNC):c.8019C>G (p.His2673Gln)
|
rs112180788
|
|
|
NM_001458.5(FLNC):c.8019C>T (p.His2673=)
|
rs112180788
|
|
|
NM_001458.5(FLNC):c.801del (p.Val268fs)
|
rs2128934193
|
|
|
NM_001458.5(FLNC):c.8023C>T (p.Pro2675Ser)
|
rs1563006093
|
|
|
NM_001458.5(FLNC):c.8025C>A (p.Pro2675=)
|
|
|
|
NM_001458.5(FLNC):c.8025C>G (p.Pro2675=)
|
|
|
|
NM_001458.5(FLNC):c.8026A>G (p.Lys2676Glu)
|
|
|
|
NM_001458.5(FLNC):c.8028G>A (p.Lys2676=)
|
|
|
|
NM_001458.5(FLNC):c.8028del (p.Thr2677fs)
|
|
|
|
NM_001458.5(FLNC):c.8033C>T (p.Pro2678Leu)
|
|
|
|
NM_001458.5(FLNC):c.804del (p.Arg269fs)
|
|
|
|
NM_001458.5(FLNC):c.8050G>A (p.Val2684Met)
|
|
|
|
NM_001458.5(FLNC):c.8051T>C (p.Val2684Ala)
|
rs1585173265
|
|
|
NM_001458.5(FLNC):c.8051del (p.Val2684fs)
|
rs1809161384
|
|
|
NM_001458.5(FLNC):c.805C>T (p.Arg269Ter)
|
rs755583250
|
|
|
NM_001458.5(FLNC):c.8066A>T (p.Asn2689Ile)
|
|
|
|
NM_001458.5(FLNC):c.8069G>A (p.Arg2690Gln)
|
rs1585173273
|
|
|
NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter)
|
rs1563006133
|
|
|
NM_001458.5(FLNC):c.8078A>T (p.Asn2693Ile)
|
|
|
|
NM_001458.5(FLNC):c.8087A>G (p.Tyr2696Cys)
|
rs2128940675
|
|
|
NM_001458.5(FLNC):c.8098G>A (p.Glu2700Lys)
|
rs2128940691
|
|
|
NM_001458.5(FLNC):c.8103A>T (p.Lys2701Asn)
|
|
|
|
NM_001458.5(FLNC):c.8103_8104del (p.Asp2703fs)
|
|
|
|
NM_001458.5(FLNC):c.8107del (p.Asp2703fs)
|
rs1563006160
|
|
|
NM_001458.5(FLNC):c.8109C>G (p.Asp2703Glu)
|
rs1809164297
|
|
|
NM_001458.5(FLNC):c.8110_8111insC (p.Tyr2704fs)
|
|
|
|
NM_001458.5(FLNC):c.8112C>A (p.Tyr2704Ter)
|
|
|
|
NM_001458.5(FLNC):c.8112C>T (p.Tyr2704=)
|
rs2128940695
|
|
|
NM_001458.5(FLNC):c.8113A>C (p.Ile2705Leu)
|
rs1809164468
|
|
|
NM_001458.5(FLNC):c.8117T>C (p.Leu2706Pro)
|
rs2128940703
|
|
|
NM_001458.5(FLNC):c.8118_8121delinsTATC (p.Leu2706_Ile2707=)
|
rs2128940705
|
|
|
NM_001458.5(FLNC):c.8121T>G (p.Ile2707Met)
|
rs28437296
|
|
|
NM_001458.5(FLNC):c.8121_8122inv (p.Val2708Ile)
|
|
|
|
NM_001458.5(FLNC):c.8129G>A (p.Trp2710Ter)
|
rs1585173340
|
|
|
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter)
|
rs121909518
|
|
|
NM_001458.5(FLNC):c.8131G>A (p.Gly2711Ser)
|
rs1809165876
|
|
|
NM_001458.5(FLNC):c.8131G>T (p.Gly2711Cys)
|
rs1809165876
|
|
|
NM_001458.5(FLNC):c.8140dup (p.Ser2714fs)
|
rs1554402084
|
|
|
NM_001458.5(FLNC):c.8143G>T (p.Val2715Phe)
|
rs370832402
|
|
|
NM_001458.5(FLNC):c.8156C>T (p.Pro2719Leu)
|
rs1585173375
|
|
|
NM_001458.5(FLNC):c.8163A>T (p.Lys2721Asn)
|
rs2128940727
|
|
|
NM_001458.5(FLNC):c.8168A>T (p.Lys2723Met)
|
|
|
|
NM_001458.5(FLNC):c.8169G>A (p.Lys2723=)
|
|
|
|
NM_001458.5(FLNC):c.816G>A (p.Gln272=)
|
|
|
|
NM_001458.5(FLNC):c.8171T>C (p.Val2724Ala)
|
rs770027151
|
|
|
NM_001458.5(FLNC):c.8174C>G (p.Pro2725Arg)
|
rs2128940731
|
|
|
NM_001458.5(FLNC):c.8174C>T (p.Pro2725Leu)
|
rs2128940731
|
|
|
NM_001458.5(FLNC):c.8175T>C (p.Pro2725=)
|
rs374175186
|
|
|
NM_001458.5(FLNC):c.8178A>G (p.Ter2726Trp)
|
rs1563006225
|
|
|
NM_001458.5(FLNC):c.824C>A (p.Pro275His)
|
rs1249075788
|
|
|
NM_001458.5(FLNC):c.825C>G (p.Pro275=)
|
|
|
|
NM_001458.5(FLNC):c.835A>G (p.Ile279Val)
|
rs1243812099
|
|
|
NM_001458.5(FLNC):c.837C>A (p.Ile279=)
|
|
|
|
NM_001458.5(FLNC):c.838G>A (p.Ala280Thr)
|
|
|
|
NM_001458.5(FLNC):c.843T>C (p.Tyr281=)
|
|
|
|
NM_001458.5(FLNC):c.849T>C (p.Pro283=)
|
|
|
|
NM_001458.5(FLNC):c.84G>A (p.Leu28=)
|
rs372154508
|
|
|
NM_001458.5(FLNC):c.850+11G>A
|
|
|
|
NM_001458.5(FLNC):c.850+12C>T
|
|
|
|
NM_001458.5(FLNC):c.850+19C>A
|
rs776614185
|
|
|
NM_001458.5(FLNC):c.850+19C>T
|
|
|
|
NM_001458.5(FLNC):c.850+1G>A
|
rs1808146842
|
|
|
NM_001458.5(FLNC):c.850+1G>T
|
rs1808146842
|
|
|
NM_001458.5(FLNC):c.850+4T>C
|
rs368602593
|
|
|
NM_001458.5(FLNC):c.850+4T>G
|
rs368602593
|
|
|
NM_001458.5(FLNC):c.850+5G>A
|
rs2128934199
|
|
|
NM_001458.5(FLNC):c.851-16T>C
|
|
|
|
NM_001458.5(FLNC):c.851-4G>A
|
rs372747855
|
|
|
NM_001458.5(FLNC):c.851-4G>C
|
rs372747855
|
|
|
NM_001458.5(FLNC):c.853A>G (p.Ile285Val)
|
|
|
|
NM_001458.5(FLNC):c.856G>C (p.Glu286Gln)
|
rs1274480597
|
|
|
NM_001458.5(FLNC):c.858G>A (p.Glu286=)
|
|
|
|
NM_001458.5(FLNC):c.860C>T (p.Pro287Leu)
|
|
|
|
NM_001458.5(FLNC):c.862C>A (p.Gln288Lys)
|
rs1808151858
|
|
|
NM_001458.5(FLNC):c.863A>G (p.Gln288Arg)
|
rs1808151950
|
|
|
NM_001458.5(FLNC):c.864G>A (p.Gln288=)
|
|
|
|
NM_001458.5(FLNC):c.867C>G (p.Gly289=)
|
rs775809908
|
|
|
NM_001458.5(FLNC):c.868A>G (p.Asn290Asp)
|
rs1329109141
|
|
|
NM_001458.5(FLNC):c.86C>T (p.Ala29Val)
|
rs2128932114
|
|
|
NM_001458.5(FLNC):c.873C>T (p.Thr291=)
|
rs749823519
|
|
|
NM_001458.5(FLNC):c.874G>T (p.Val292Leu)
|
rs1275499234
|
|
|
NM_001458.5(FLNC):c.882G>A (p.Gln294=)
|
rs1220464040
|
|
|
NM_001458.5(FLNC):c.886G>A (p.Ala296Thr)
|
|
|
|
NM_001458.5(FLNC):c.887C>T (p.Ala296Val)
|
rs2128934235
|
|
|
NM_001458.5(FLNC):c.88G>A (p.Glu30Lys)
|
rs2128932116
|
|
|
NM_001458.5(FLNC):c.891C>T (p.His297=)
|
|
|
|
NM_001458.5(FLNC):c.896_897delinsTT (p.Thr299Ile)
|
rs1562992080
|
|
|
NM_001458.5(FLNC):c.899T>G (p.Val300Gly)
|
rs2128934238
|
|
|
NM_001458.5(FLNC):c.901C>T (p.Gln301Ter)
|
|
|
|
NM_001458.5(FLNC):c.904A>G (p.Thr302Ala)
|
rs1410531577
|
|
|
NM_001458.5(FLNC):c.907G>A (p.Val303Met)
|
rs1554397562
|
|
|
NM_001458.5(FLNC):c.909G>A (p.Val303=)
|
|
|
|
NM_001458.5(FLNC):c.913G>A (p.Ala305Thr)
|
rs1312282118
|
|
|
NM_001458.5(FLNC):c.914C>G (p.Ala305Gly)
|
rs966097091
|
|
|
NM_001458.5(FLNC):c.914C>T (p.Ala305Val)
|
|
|
|
NM_001458.5(FLNC):c.915G>A (p.Ala305=)
|
|
|
|
NM_001458.5(FLNC):c.92A>T (p.Asp31Val)
|
|
|
|
NM_001458.5(FLNC):c.934G>A (p.Val312Ile)
|
rs2128934250
|
|
|
NM_001458.5(FLNC):c.935T>G (p.Val312Gly)
|
rs1808156535
|
|
|
NM_001458.5(FLNC):c.936C>T (p.Val312=)
|
rs1228125281
|
|
|
NM_001458.5(FLNC):c.946G>C (p.Asp316His)
|
|
|
|
NM_001458.5(FLNC):c.949C>A (p.Pro317Thr)
|
rs1562992145
|
|
|
NM_001458.5(FLNC):c.953A>C (p.Glu318Ala)
|
rs2128934254
|
|
|
NM_001458.5(FLNC):c.95C>T (p.Ala32Val)
|
rs2128932120
|
|
|
NM_001458.5(FLNC):c.964G>A (p.Glu322Lys)
|
|
|
|
NM_001458.5(FLNC):c.964G>T (p.Glu322Ter)
|
rs1417082178
|
|
|
NM_001458.5(FLNC):c.967G>A (p.Glu323Lys)
|
rs1562992158
|
|
|
NM_001458.5(FLNC):c.969+10G>A
|
rs953416778
|
|
|
NM_001458.5(FLNC):c.969+12C>T
|
|
|
|
NM_001458.5(FLNC):c.969+13C>A
|
|
|
|
NM_001458.5(FLNC):c.969+14G>A
|
rs765545958
|
|
|
NM_001458.5(FLNC):c.969+14G>T
|
rs765545958
|
|
|
NM_001458.5(FLNC):c.969+17G>A
|
|
|
|
NM_001458.5(FLNC):c.970-15T>C
|
rs751554946
|
|
|
NM_001458.5(FLNC):c.970-18C>T
|
|
|
|
NM_001458.5(FLNC):c.970-5A>C
|
rs199755800
|
|
|
NM_001458.5(FLNC):c.970G>A (p.Ala324Thr)
|
|
|
|
NM_001458.5(FLNC):c.975G>A (p.Lys325=)
|
|
|
|
NM_001458.5(FLNC):c.978G>A (p.Val326=)
|
|
|
|
NM_001458.5(FLNC):c.982C>T (p.Pro328Ser)
|
rs1808168813
|
|
|
NM_001458.5(FLNC):c.985_986dup (p.Asn329fs)
|
|
|
|
NM_001458.5(FLNC):c.987C>A (p.Asn329Lys)
|
rs1808169217
|
|
|
NM_001458.5(FLNC):c.992A>G (p.Asp331Gly)
|
rs1808169515
|
|
|
NM_001843.4(CNTN1):c.1070A>C (p.Lys357Thr)
|
rs2136929850
|
|
|
NM_001843.4(CNTN1):c.1074del (p.Ile359fs)
|
rs1592283787
|
|
|
NM_001843.4(CNTN1):c.1078C>G (p.Pro360Ala)
|
|
|
|
NM_001843.4(CNTN1):c.107A>G (p.Asp36Gly)
|
|
|
|
NM_001843.4(CNTN1):c.1109C>T (p.Ala370Val)
|
rs1451321171
|
|
|
NM_001843.4(CNTN1):c.1110+15G>A
|
|
|
|
NM_001843.4(CNTN1):c.1110+16T>G
|
|
|
|
NM_001843.4(CNTN1):c.1110+8T>A
|
|
|
|
NM_001843.4(CNTN1):c.1110G>A (p.Ala370=)
|
rs770501938
|
|
|
NM_001843.4(CNTN1):c.1116T>G (p.His372Gln)
|
|
|
|
NM_001843.4(CNTN1):c.1190A>G (p.Tyr397Cys)
|
rs1565989995
|
|
|
NM_001843.4(CNTN1):c.1228+10A>G
|
|
|
|
NM_001843.4(CNTN1):c.1228+8T>C
|
|
|
|
NM_001843.4(CNTN1):c.1230G>A (p.Ala410=)
|
rs144896071
|
|
|
NM_001843.4(CNTN1):c.1239A>G (p.Pro413=)
|
rs2136937686
|
|
|
NM_001843.4(CNTN1):c.1249A>G (p.Met417Val)
|
rs1946186464
|
|
|
NM_001843.4(CNTN1):c.1258A>G (p.Met420Val)
|
|
|
|
NM_001843.4(CNTN1):c.1259T>C (p.Met420Thr)
|
|
|
|
NM_001843.4(CNTN1):c.1271T>C (p.Ile424Thr)
|
rs1269192212
|
|
|
NM_001843.4(CNTN1):c.1275G>C (p.Leu425=)
|
rs2136937864
|
|
|
NM_001843.4(CNTN1):c.1292G>A (p.Arg431Lys)
|
rs756198153
|
|
|
NM_001843.4(CNTN1):c.1294G>A (p.Val432Met)
|
rs778897121
|
|
|
NM_001843.4(CNTN1):c.1295T>A (p.Val432Glu)
|
|
|
|
NM_001843.4(CNTN1):c.1315A>G (p.Lys439Glu)
|
rs748101740
|
|
|
NM_001843.4(CNTN1):c.131A>T (p.Glu44Val)
|
rs1945329610
|
|
|
NM_001843.4(CNTN1):c.132A>G (p.Glu44=)
|
rs1555180046
|
|
|
NM_001843.4(CNTN1):c.1341A>G (p.Ser447=)
|
rs1438177918
|
|
|
NM_001843.4(CNTN1):c.1356A>G (p.Thr452=)
|
rs1946191080
|
|
|
NM_001843.4(CNTN1):c.1365T>G (p.Leu455=)
|
rs1311329019
|
|
|
NM_001843.4(CNTN1):c.1381A>C (p.Ile461Leu)
|
rs1337032945
|
|
|
NM_001843.4(CNTN1):c.1398T>C (p.Asp466=)
|
|
|
|
NM_001843.4(CNTN1):c.1414A>C (p.Asn472His)
|
rs1946336293
|
|
|
NM_001843.4(CNTN1):c.1415ACA[1] (p.Asn473del)
|
rs2136950735
|
|
|
NM_001843.4(CNTN1):c.1442T>C (p.Ile481Thr)
|
rs745586631
|
|
|
NM_001843.4(CNTN1):c.1470_1471del (p.Gly491fs)
|
|
|
|
NM_001843.4(CNTN1):c.1491A>T (p.Gly497=)
|
|
|
|
NM_001843.4(CNTN1):c.1507+10T>C
|
|
|
|
NM_001843.4(CNTN1):c.1507+15G>T
|
|
|
|
NM_001843.4(CNTN1):c.1507+17G>A
|
|
|
|
NM_001843.4(CNTN1):c.1508-13del
|
|
|
|
NM_001843.4(CNTN1):c.1508-16A>G
|
rs1237102269
|
|
|
NM_001843.4(CNTN1):c.1508-4A>G
|
|
|
|
NM_001843.4(CNTN1):c.1508-5T>C
|
rs1241567657
|
|
|
NM_001843.4(CNTN1):c.1508-6A>G
|
|
|
|
NM_001843.4(CNTN1):c.1508A>T (p.Asp503Val)
|
rs199754941
|
|
|
NM_001843.4(CNTN1):c.1540G>A (p.Ala514Thr)
|
rs1167071121
|
|
|
NM_001843.4(CNTN1):c.1563C>T (p.Asn521=)
|
rs201595623
|
|
|
NM_001843.4(CNTN1):c.1564G>A (p.Ala522Thr)
|
|
|
|
NM_001843.4(CNTN1):c.1590T>C (p.Phe530=)
|
|
|
|
NM_001843.4(CNTN1):c.160G>A (p.Glu54Lys)
|
rs1945330731
|
|
|
NM_001843.4(CNTN1):c.1615del (p.Val539fs)
|
rs2136952659
|
|
|
NM_001843.4(CNTN1):c.1631G>T (p.Gly544Val)
|
|
|
|
NM_001843.4(CNTN1):c.1636G>C (p.Val546Leu)
|
|
|
|
NM_001843.4(CNTN1):c.1641C>A (p.Ile547=)
|
|
|
|
NM_001843.4(CNTN1):c.1642G>A (p.Asp548Asn)
|
rs1805062496
|
|
|
NM_001843.4(CNTN1):c.1681A>G (p.Met561Val)
|
rs2136952998
|
|
|
NM_001843.4(CNTN1):c.1683+1G>A
|
rs1555185778
|
|
|
NM_001843.4(CNTN1):c.1694A>G (p.Asn565Ser)
|
rs747622764
|
|
|
NM_001843.4(CNTN1):c.1711C>T (p.Arg571Ter)
|
|
|
|
NM_001843.4(CNTN1):c.1719G>T (p.Ala573=)
|
|
|
|
NM_001843.4(CNTN1):c.1731T>G (p.His577Gln)
|
rs770173257
|
|
|
NM_001843.4(CNTN1):c.1739G>A (p.Arg580Lys)
|
rs1286090767
|
|
|
NM_001843.4(CNTN1):c.1746A>G (p.Thr582=)
|
|
|
|
NM_001843.4(CNTN1):c.1754C>T (p.Ala585Val)
|
rs2137007039
|
|
|
NM_001843.4(CNTN1):c.1757A>G (p.Gln586Arg)
|
|
|
|
NM_001843.4(CNTN1):c.1762A>G (p.Ile588Val)
|
rs555223029
|
|
|
NM_001843.4(CNTN1):c.1789G>C (p.Asp597His)
|
|
|
|
NM_001843.4(CNTN1):c.1804+13A>C
|
|
|
|
NM_001843.4(CNTN1):c.1804+16T>A
|
|
|
|
NM_001843.4(CNTN1):c.1804+5G>A
|
|
|
|
NM_001843.4(CNTN1):c.1804+7G>A
|
rs751956205
|
|
|
NM_001843.4(CNTN1):c.1805-17C>T
|
|
|
|
NM_001843.4(CNTN1):c.1836A>G (p.Ile612Met)
|
rs1592357953
|
|
|
NM_001843.4(CNTN1):c.1874G>T (p.Ser625Ile)
|
|
|
|
NM_001843.4(CNTN1):c.1895G>A (p.Ser632Asn)
|
rs199886411
|
|
|
NM_001843.4(CNTN1):c.1921A>T (p.Thr641Ser)
|
rs1555193694
|
|
|
NM_001843.4(CNTN1):c.1932T>C (p.Ile644=)
|
rs1396778570
|
|
|
NM_001843.4(CNTN1):c.1948A>G (p.Lys650Glu)
|
rs1947806765
|
|
|
NM_001843.4(CNTN1):c.1963+10_1963+13del
|
rs1334889908
|
|
|
NM_001843.4(CNTN1):c.1964-15A>C
|
|
|
|
NM_001843.4(CNTN1):c.1964-17C>A
|
|
|
|
NM_001843.4(CNTN1):c.1966C>T (p.Pro656Ser)
|
rs2120504473
|
|
|
NM_001843.4(CNTN1):c.1996G>T (p.Ala666Ser)
|
rs1948132905
|
|
|
NM_001843.4(CNTN1):c.2016C>T (p.Ile672=)
|
|
|
|
NM_001843.4(CNTN1):c.201A>G (p.Ala67=)
|
rs2136857289
|
|
|
NM_001843.4(CNTN1):c.2035T>A (p.Phe679Ile)
|
|
|
|
NM_001843.4(CNTN1):c.203G>A (p.Arg68Gln)
|
rs2136857338
|
|
|
NM_001843.4(CNTN1):c.2058A>G (p.Thr686=)
|
rs1363409507
|
|
|
NM_001843.4(CNTN1):c.2076C>G (p.Pro692=)
|
rs1236135316
|
|
|
NM_001843.4(CNTN1):c.2088T>C (p.Ser696=)
|
|
|
|
NM_001843.4(CNTN1):c.20T>A (p.Val7Asp)
|
|
|
|
NM_001843.4(CNTN1):c.2113+7A>G
|
|
|
|
NM_001843.4(CNTN1):c.2114-15del
|
|
|
|
NM_001843.4(CNTN1):c.2114-17T>G
|
rs1555199184
|
|
|
NM_001843.4(CNTN1):c.2114-19A>G
|
|
|
|
NM_001843.4(CNTN1):c.2139A>G (p.Val713=)
|
|
|
|
NM_001843.4(CNTN1):c.2140G>C (p.Gly714Arg)
|
|
|
|
NM_001843.4(CNTN1):c.2144G>A (p.Gly715Asp)
|
|
|
|
NM_001843.4(CNTN1):c.2146G>A (p.Gly716Arg)
|
|
|
|
NM_001843.4(CNTN1):c.2153G>A (p.Gly718Glu)
|
|
|
|
NM_001843.4(CNTN1):c.215dup (p.Val74fs)
|
rs1565946117
|
|
|
NM_001843.4(CNTN1):c.2167C>G (p.Leu723Val)
|
|
|
|
NM_001843.4(CNTN1):c.2169G>T (p.Leu723=)
|
|
|
|
NM_001843.4(CNTN1):c.216C>T (p.Phe72=)
|
|
|
|
NM_001843.4(CNTN1):c.2183C>A (p.Ala728Glu)
|
rs201782849
|
|
|
NM_001843.4(CNTN1):c.2184+15G>C
|
|
|
|
NM_001843.4(CNTN1):c.2184G>A (p.Ala728=)
|
rs764189993
|
|
|
NM_001843.4(CNTN1):c.2185-6A>G
|
|
|
|
NM_001843.4(CNTN1):c.219G>A (p.Pro73=)
|
rs1162619112
|
|
|
NM_001843.4(CNTN1):c.21C>T (p.Val7=)
|
|
|
|
NM_001843.4(CNTN1):c.221T>G (p.Val74Gly)
|
|
|
|
NM_001843.4(CNTN1):c.2246T>G (p.Phe749Cys)
|
|
|
|
NM_001843.4(CNTN1):c.2252G>A (p.Gly751Glu)
|
rs1948790119
|
|
|
NM_001843.4(CNTN1):c.225C>T (p.Tyr75=)
|
rs777370521
|
|
|
NM_001843.4(CNTN1):c.227+10C>T
|
rs2136857621
|
|
|
NM_001843.4(CNTN1):c.227+12C>T
|
|
|
|
NM_001843.4(CNTN1):c.227+13G>A
|
|
|
|
NM_001843.4(CNTN1):c.227+20T>C
|
|
|
|
NM_001843.4(CNTN1):c.227+23dup
|
rs2136857686
|
|
|
NM_001843.4(CNTN1):c.2273_2274del (p.Thr758fs)
|
|
|
|
NM_001843.4(CNTN1):c.227A>G (p.Lys76Arg)
|
rs1355732702
|
|
|
NM_001843.4(CNTN1):c.228-3_228-2del
|
rs1945468731
|
|
|
NM_001843.4(CNTN1):c.228-5C>A
|
rs1407187381
|
|
|
NM_001843.4(CNTN1):c.228-8del
|
|
|
|
NM_001843.4(CNTN1):c.2285C>G (p.Pro762Arg)
|
|
|
|
NM_001843.4(CNTN1):c.2294G>A (p.Gly765Asp)
|
rs1555199605
|
|
|
NM_001843.4(CNTN1):c.2297G>A (p.Arg766Gln)
|
rs267603461
|
|
|
NM_001843.4(CNTN1):c.2297G>T (p.Arg766Leu)
|
|
|
|
NM_001843.4(CNTN1):c.2307T>C (p.His769=)
|
rs2120747137
|
|
|
NM_001843.4(CNTN1):c.2324G>T (p.Ser775Ile)
|
|
|
|
NM_001843.4(CNTN1):c.2365A>G (p.Asn789Asp)
|
rs2120747529
|
|
|
NM_001843.4(CNTN1):c.2367C>T (p.Asn789=)
|
|
|
|
NM_001843.4(CNTN1):c.2369A>C (p.Lys790Thr)
|
rs771483189
|
|
|
NM_001843.4(CNTN1):c.2375A>T (p.Asp792Val)
|
rs1250582749
|
|
|
NM_001843.4(CNTN1):c.2418C>T (p.Asp806=)
|
|
|
|
NM_001843.4(CNTN1):c.2419+21_2419+23del
|
rs762577839
|
|
|
NM_001843.4(CNTN1):c.2420-13C>T
|
rs1037890294
|
|
|
NM_001843.4(CNTN1):c.2448T>C (p.Gly816=)
|
rs775065519
|
|
|
NM_001843.4(CNTN1):c.2454A>G (p.Lys818=)
|
|
|
|
NM_001843.4(CNTN1):c.246G>C (p.Gly82=)
|
rs765121768
|
|
|
NM_001843.4(CNTN1):c.2484T>C (p.His828=)
|
|
|
|
NM_001843.4(CNTN1):c.2495T>G (p.Val832Gly)
|
rs780316987
|
|
|
NM_001843.4(CNTN1):c.2498T>C (p.Leu833Ser)
|
rs1205621429
|
|
|
NM_001843.4(CNTN1):c.2506del (p.Lys835_Ile836insTer)
|
rs1592415275
|
|
|
NM_001843.4(CNTN1):c.2510T>G (p.Val837Gly)
|
|
|
|
NM_001843.4(CNTN1):c.2523+5G>A
|
|
|
|
NM_001843.4(CNTN1):c.2524-16T>C
|
|
|
|
NM_001843.4(CNTN1):c.2524-9T>C
|
|
|
|
NM_001843.4(CNTN1):c.2524A>G (p.Ile842Val)
|
rs2120816290
|
|
|
NM_001843.4(CNTN1):c.252T>A (p.Val84=)
|
rs369941278
|
|
|
NM_001843.4(CNTN1):c.2530T>C (p.Tyr844His)
|
rs781106271
|
|
|
NM_001843.4(CNTN1):c.2537C>T (p.Ala846Val)
|
rs1390271155
|
|
|
NM_001843.4(CNTN1):c.2543A>C (p.His848Pro)
|
rs769577018
|
|
|
NM_001843.4(CNTN1):c.2595G>A (p.Ser865=)
|
rs145714777
|
|
|
NM_001843.4(CNTN1):c.2597_2710+7delinsTT
|
rs2120818344
|
|
|
NM_001843.4(CNTN1):c.2605G>A (p.Glu869Lys)
|
|
|
|
NM_001843.4(CNTN1):c.2620G>C (p.Asp874His)
|
|
|
|
NM_001843.4(CNTN1):c.262A>G (p.Ser88Gly)
|
rs1945470430
|
|
|
NM_001843.4(CNTN1):c.2632_2636del (p.Phe878fs)
|
rs2120819481
|
|
|
NM_001843.4(CNTN1):c.2664G>T (p.Gly888=)
|
|
|
|
NM_001843.4(CNTN1):c.2683A>C (p.Met895Leu)
|
rs1253543758
|
|
|
NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter)
|
|
|
|
NM_001843.4(CNTN1):c.2694T>C (p.Ala898=)
|
rs1555200914
|
|
|
NM_001843.4(CNTN1):c.269G>A (p.Arg90Gln)
|
|
|
|
NM_001843.4(CNTN1):c.2710+12G>A
|
|
|
|
NM_001843.4(CNTN1):c.2710+20T>C
|
|
|
|
NM_001843.4(CNTN1):c.2711-11A>G
|
|
|
|
NM_001843.4(CNTN1):c.2711-19A>G
|
|
|
|
NM_001843.4(CNTN1):c.2712T>C (p.Pro904=)
|
|
|
|
NM_001843.4(CNTN1):c.2721G>A (p.Gln907=)
|
rs770540367
|
|
|
NM_001843.4(CNTN1):c.2725C>G (p.Pro909Ala)
|
|
|
|
NM_001843.4(CNTN1):c.2727A>C (p.Pro909=)
|
|
|
|
NM_001843.4(CNTN1):c.2730G>A (p.Arg910=)
|
|
|
|
NM_001843.4(CNTN1):c.2751T>C (p.Ser917=)
|
|
|
|
NM_001843.4(CNTN1):c.2754T>A (p.Gly918=)
|
|
|
|
NM_001843.4(CNTN1):c.2758C>T (p.Arg920Cys)
|
|
|
|
NM_001843.4(CNTN1):c.2769C>T (p.Ile923=)
|
|
|
|
NM_001843.4(CNTN1):c.2772C>G (p.Thr924=)
|
|
|
|
NM_001843.4(CNTN1):c.2795C>A (p.Ser932Ter)
|
rs1555201269
|
|
|
NM_001843.4(CNTN1):c.2816G>T (p.Gly939Val)
|
rs1248588484
|
|
|
NM_001843.4(CNTN1):c.281T>C (p.Val94Ala)
|
|
|
|
NM_001843.4(CNTN1):c.2823+18T>C
|
|
|
|
NM_001843.4(CNTN1):c.2824-15T>A
|
|
|
|
NM_001843.4(CNTN1):c.2854G>A (p.Gly952Ser)
|
|
|
|
NM_001843.4(CNTN1):c.2880C>T (p.His960=)
|
rs2120850668
|
|
|
NM_001843.4(CNTN1):c.2896A>G (p.Ile966Val)
|
|
|
|
NM_001843.4(CNTN1):c.2906A>G (p.Asp969Gly)
|
rs1592428509
|
|
|
NM_001843.4(CNTN1):c.2923G>T (p.Glu975Ter)
|
rs1555201480
|
|
|
NM_001843.4(CNTN1):c.2928T>C (p.Val976=)
|
rs1949093067
|
|
|
NM_001843.4(CNTN1):c.2930G>A (p.Arg977His)
|
|
|
|
NM_001843.4(CNTN1):c.2980+7G>A
|
rs969185163
|
|
|
NM_001843.4(CNTN1):c.2981-12T>C
|
|
|
|
NM_001843.4(CNTN1):c.2981-18T>C
|
rs2121173098
|
|
|
NM_001843.4(CNTN1):c.3002G>A (p.Ser1001Asn)
|
|
|
|
NM_001843.4(CNTN1):c.3023C>T (p.Pro1008Leu)
|
rs768617895
|
|
|
NM_001843.4(CNTN1):c.3037C>A (p.Leu1013Ile)
|
|
|
|
NM_001843.4(CNTN1):c.3050A>C (p.Glu1017Ala)
|
rs2121173738
|
|
|
NM_001843.4(CNTN1):c.3054C>T (p.Phe1018=)
|
|
|
|
NM_001843.4(CNTN1):c.342T>C (p.Cys114=)
|
rs1555180947
|
|
|
NM_001843.4(CNTN1):c.348A>G (p.Ala116=)
|
rs1945474469
|
|
|
NM_001843.4(CNTN1):c.401-14del
|
rs148387796
|
|
|
NM_001843.4(CNTN1):c.409C>G (p.Pro137Ala)
|
|
|
|
NM_001843.4(CNTN1):c.40T>A (p.Ser14Thr)
|
rs145406782
|
|
|
NM_001843.4(CNTN1):c.428G>C (p.Arg143Pro)
|
rs758820625
|
|
|
NM_001843.4(CNTN1):c.436G>A (p.Val146Ile)
|
|
|
|
NM_001843.4(CNTN1):c.438C>T (p.Val146=)
|
|
|
|
NM_001843.4(CNTN1):c.43A>G (p.Ile15Val)
|
rs1944915906
|
|
|
NM_001843.4(CNTN1):c.441A>G (p.Arg147=)
|
|
|
|
NM_001843.4(CNTN1):c.457G>C (p.Gly153Arg)
|
|
|
|
NM_001843.4(CNTN1):c.480C>G (p.Pro160=)
|
|
|
|
NM_001843.4(CNTN1):c.480C>T (p.Pro160=)
|
|
|
|
NM_001843.4(CNTN1):c.482dup (p.Tyr162fs)
|
|
|
|
NM_001843.4(CNTN1):c.496+20_496+23del
|
|
|
|
NM_001843.4(CNTN1):c.497-16C>T
|
|
|
|
NM_001843.4(CNTN1):c.497-19A>T
|
|
|
|
NM_001843.4(CNTN1):c.497-4C>T
|
rs772846701
|
|
|
NM_001843.4(CNTN1):c.497-7C>A
|
rs2136906588
|
|
|
NM_001843.4(CNTN1):c.499G>A (p.Asp167Asn)
|
rs1285012875
|
|
|
NM_001843.4(CNTN1):c.49A>C (p.Thr17Pro)
|
|
|
|
NM_001843.4(CNTN1):c.512G>T (p.Arg171Leu)
|
rs201037986
|
|
|
NM_001843.4(CNTN1):c.56T>C (p.Leu19Ser)
|
|
|
|
NM_001843.4(CNTN1):c.573G>A (p.Gln191=)
|
|
|
|
NM_001843.4(CNTN1):c.61+11T>G
|
|
|
|
NM_001843.4(CNTN1):c.612C>G (p.Ser204=)
|
rs146088900
|
|
|
NM_001843.4(CNTN1):c.612C>T (p.Ser204=)
|
rs146088900
|
|
|
NM_001843.4(CNTN1):c.618A>C (p.Lys206Asn)
|
|
|
|
NM_001843.4(CNTN1):c.62-15T>C
|
|
|
|
NM_001843.4(CNTN1):c.621C>A (p.Gly207=)
|
|
|
|
NM_001843.4(CNTN1):c.62A>G (p.Glu21Gly)
|
rs2136817438
|
|
|
NM_001843.4(CNTN1):c.62del (p.Glu21fs)
|
rs2136817458
|
|
|
NM_001843.4(CNTN1):c.644G>A (p.Ser215Asn)
|
rs1555182848
|
|
|
NM_001843.4(CNTN1):c.646C>T (p.Pro216Ser)
|
|
|
|
NM_001843.4(CNTN1):c.663C>G (p.Ser221Arg)
|
|
|
|
NM_001843.4(CNTN1):c.678C>A (p.Phe226Leu)
|
rs868602241
|
|
|
NM_001843.4(CNTN1):c.68C>T (p.Thr23Ile)
|
|
|
|
NM_001843.4(CNTN1):c.692C>T (p.Pro231Leu)
|
|
|
|
NM_001843.4(CNTN1):c.695T>C (p.Ile232Thr)
|
rs763560467
|
|
|
NM_001843.4(CNTN1):c.697C>G (p.Pro233Ala)
|
rs1945827865
|
|
|
NM_001843.4(CNTN1):c.701_703dup (p.Glu234_Arg235insGln)
|
|
|
|
NM_001843.4(CNTN1):c.704-11C>G
|
rs375008317
|
|
|
NM_001843.4(CNTN1):c.704-1G>A
|
|
|
|
NM_001843.4(CNTN1):c.707C>A (p.Thr236Lys)
|
|
|
|
NM_001843.4(CNTN1):c.720T>C (p.Tyr240=)
|
|
|
|
NM_001843.4(CNTN1):c.724G>A (p.Ala242Thr)
|
rs758956439
|
|
|
NM_001843.4(CNTN1):c.735A>T (p.Val245=)
|
rs1592279006
|
|
|
NM_001843.4(CNTN1):c.739C>T (p.Gln247Ter)
|
|
|
|
NM_001843.4(CNTN1):c.751G>A (p.Val251Ile)
|
rs2136919426
|
|
|
NM_001843.4(CNTN1):c.756T>C (p.Tyr252=)
|
|
|
|
NM_001843.4(CNTN1):c.761T>G (p.Leu254Trp)
|
rs1592279096
|
|
|
NM_001843.4(CNTN1):c.770A>G (p.Gln257Arg)
|
|
|
|
NM_001843.4(CNTN1):c.771A>G (p.Gln257=)
|
rs2136919555
|
|
|
NM_001843.4(CNTN1):c.774T>G (p.Asn258Lys)
|
rs1945970839
|
|
|
NM_001843.4(CNTN1):c.775G>A (p.Val259Met)
|
rs1945970944
|
|
|
NM_001843.4(CNTN1):c.803+14C>T
|
|
|
|
NM_001843.4(CNTN1):c.803+7A>G
|
rs2136919672
|
|
|
NM_001843.4(CNTN1):c.803+9A>T
|
rs1945971858
|
|
|
NM_001843.4(CNTN1):c.804-13C>G
|
rs2136920108
|
|
|
NM_001843.4(CNTN1):c.804-7T>C
|
|
|
|
NM_001843.4(CNTN1):c.812C>T (p.Pro271Leu)
|
rs1158555477
|
|
|
NM_001843.4(CNTN1):c.82T>C (p.Tyr28His)
|
rs2136817543
|
|
|
NM_001843.4(CNTN1):c.858T>A (p.Ala286=)
|
rs1945980419
|
|
|
NM_001843.4(CNTN1):c.882T>A (p.Val294=)
|
|
|
|
NM_001843.4(CNTN1):c.905T>C (p.Leu302Pro)
|
rs548330075
|
|
|
NM_001843.4(CNTN1):c.907G>C (p.Glu303Gln)
|
rs1487254662
|
|
|
NM_001843.4(CNTN1):c.908A>C (p.Glu303Ala)
|
rs1283320182
|
|
|
NM_001843.4(CNTN1):c.918C>T (p.Gly306=)
|
rs746551405
|
|
|
NM_001843.4(CNTN1):c.919A>G (p.Ile307Val)
|
rs756830197
|
|
|
NM_001843.4(CNTN1):c.94+15G>C
|
rs1944974270
|
|
|
NM_001843.4(CNTN1):c.94+2T>C
|
|
|
|
NM_001843.4(CNTN1):c.94+4A>G
|
|
|
|
NM_001843.4(CNTN1):c.946A>C (p.Arg316=)
|
|
|
|
NM_001843.4(CNTN1):c.95-5T>C
|
|
|
|
NM_001843.4(CNTN1):c.95-7C>A
|
rs1362923481
|
|
|
NM_001843.4(CNTN1):c.950G>A (p.Gly317Glu)
|
rs1945984350
|
|
|
NM_001843.4(CNTN1):c.986-16G>C
|
rs1240741402
|
|
|
NM_001848.2(COL6A1):c.1568_1575+1dup
|
rs2077817384
|
|
|
NM_001848.3(COL6A1):c.1002+11G>A
|
|
|
|
NM_001848.3(COL6A1):c.1002+13A>G
|
|
|
|
NM_001848.3(COL6A1):c.1002+13A>T
|
rs1340467004
|
|
|
NM_001848.3(COL6A1):c.1002+14G>T
|
rs775143867
|
|
|
NM_001848.3(COL6A1):c.1002+15A>C
|
|
|
|
NM_001848.3(COL6A1):c.1002+16T>C
|
rs1569518214
|
|
|
NM_001848.3(COL6A1):c.1002+16T>G
|
|
|
|
NM_001848.3(COL6A1):c.1002+17A>C
|
rs1343644341
|
|
|
NM_001848.3(COL6A1):c.1002+17A>G
|
|
|
|
NM_001848.3(COL6A1):c.1002+17A>T
|
rs1343644341
|
|
|
NM_001848.3(COL6A1):c.1002+20A>C
|
|
|
|
NM_001848.3(COL6A1):c.1002+20A>G
|
|
|
|
NM_001848.3(COL6A1):c.1002+21_1002+40dup
|
|
|
|
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGATGGACGGGGAGGGACGAGGAGG
|
rs1569518218
|
|
|
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
|
|
|
|
NM_001848.3(COL6A1):c.1002+5_1002+6insCCGGGGAGGGA
|
rs2077768137
|
|
|
NM_001848.3(COL6A1):c.1002+6_1002+88del
|
rs1556425727
|
|
|
NM_001848.3(COL6A1):c.1002+6_1002+89del
|
|
|
|
NM_001848.3(COL6A1):c.1002+6_1003-135del
|
rs2123472135
|
|
|
NM_001848.3(COL6A1):c.1002+8G>A
|
rs759134133
|
|
|
NM_001848.3(COL6A1):c.1002+9G>A
|
|
|
|
NM_001848.3(COL6A1):c.1003-10C>G
|
rs182440627
|
|
|
NM_001848.3(COL6A1):c.1003-11C>T
|
|
|
|
NM_001848.3(COL6A1):c.1003-15del
|
rs769487412
|
|
|
NM_001848.3(COL6A1):c.1003-1G>A
|
rs886043330
|
|
|
NM_001848.3(COL6A1):c.1003-1G>T
|
rs886043330
|
|
|
NM_001848.3(COL6A1):c.1003-2A>C
|
rs797045477
|
|
|
NM_001848.3(COL6A1):c.1003-2A>G
|
rs797045477
|
|
|
NM_001848.3(COL6A1):c.1003-2del
|
rs1556425835
|
|
|
NM_001848.3(COL6A1):c.1003-3C>G
|
rs1171069767
|
|
|
NM_001848.3(COL6A1):c.1003-4C>A
|
|
|
|
NM_001848.3(COL6A1):c.1003-8C>G
|
|
|
|
NM_001848.3(COL6A1):c.1005G>A (p.Gly335=)
|
|
|
|
NM_001848.3(COL6A1):c.1011G>C (p.Met337Ile)
|
|
|
|
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu)
|
rs794727121
|
|
|
NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys)
|
rs886043321
|
|
|
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)
|
rs121912935
|
|
|
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val)
|
rs121912935
|
|
|
NM_001848.3(COL6A1):c.1023C>T (p.Gly341=)
|
|
|
|
NM_001848.3(COL6A1):c.1024_1032del (p.Leu342_Gly344del)
|
rs398123630
|
|
|
NM_001848.3(COL6A1):c.1027_1056+76del
|
rs2123473096
|
|
|
NM_001848.3(COL6A1):c.1029A>C (p.Pro343=)
|
rs1556425843
|
|
|
NM_001848.3(COL6A1):c.1030G>C (p.Gly344Arg)
|
rs1569518250
|
|
|
NM_001848.3(COL6A1):c.1037A>G (p.Lys346Arg)
|
|
|
|
NM_001848.3(COL6A1):c.1043C>G (p.Ser348Trp)
|
rs142882745
|
|
|
NM_001848.3(COL6A1):c.1044G>C (p.Ser348=)
|
|
|
|
NM_001848.3(COL6A1):c.1047C>A (p.Pro349=)
|
rs202227298
|
|
|
NM_001848.3(COL6A1):c.1047C>T (p.Pro349=)
|
rs202227298
|
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
|
NM_001848.3(COL6A1):c.1056+1G>C
|
rs398123631
|
|
|
NM_001848.3(COL6A1):c.1056+1G>T
|
rs398123631
|
|
|
NM_001848.3(COL6A1):c.1056+1del
|
rs1556425853
|
|
|
NM_001848.3(COL6A1):c.1056+2T>A
|
|
|
|
NM_001848.3(COL6A1):c.1056+2dup
|
|
|
|
NM_001848.3(COL6A1):c.1056+3A>C
|
rs2077772542
|
|
|
NM_001848.3(COL6A1):c.1056+4A>C
|
rs886043433
|
|
|
NM_001848.3(COL6A1):c.1056+4A>G
|
rs886043433
|
|
|
NM_001848.3(COL6A1):c.1056+5G>A
|
rs886044511
|
|
|
NM_001848.3(COL6A1):c.1056+5G>T
|
rs886044511
|
|
|
NM_001848.3(COL6A1):c.1056+9C>G
|
|
|
|
NM_001848.3(COL6A1):c.1068A>T (p.Gly356=)
|
rs1481098445
|
|
|
NM_001848.3(COL6A1):c.1069C>A (p.Pro357Thr)
|
rs762443936
|
|
|
NM_001848.3(COL6A1):c.106G>A (p.Val36Met)
|
|
|
|
NM_001848.3(COL6A1):c.1074T>C (p.Pro358=)
|
rs2123473427
|
|
|
NM_001848.3(COL6A1):c.1075_1076delinsAA (p.Gly359Asn)
|
rs886042646
|
|
|
NM_001848.3(COL6A1):c.1076G>A (p.Gly359Asp)
|
|
|
|
NM_001848.3(COL6A1):c.1095_1096inv (p.Ala366Thr)
|
|
|
|
NM_001848.3(COL6A1):c.10G>A (p.Ala4Thr)
|
rs1603589147
|
|
|
NM_001848.3(COL6A1):c.1100T>C (p.Phe367Ser)
|
|
|
|
NM_001848.3(COL6A1):c.1112G>A (p.Gly371Glu)
|
rs2077774072
|
|
|
NM_001848.3(COL6A1):c.1117A>C (p.Lys373Gln)
|
rs144677931
|
|
|
NM_001848.3(COL6A1):c.1117A>G (p.Lys373Glu)
|
|
|
|
NM_001848.3(COL6A1):c.1119+14G>A
|
|
|
|
NM_001848.3(COL6A1):c.1119+16C>T
|
rs1370050036
|
|
|
NM_001848.3(COL6A1):c.1120-12G>A
|
rs115107397
|
|
|
NM_001848.3(COL6A1):c.1120-12G>T
|
|
|
|
NM_001848.3(COL6A1):c.1120-13C>T
|
|
|
|
NM_001848.3(COL6A1):c.1120-13del
|
rs766658998
|
|
|
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)
|
|
|
|
NM_001848.3(COL6A1):c.1125G>T (p.Glu375Asp)
|
|
|
|
NM_001848.3(COL6A1):c.1138G>A (p.Gly380Arg)
|
|
|
|
NM_001848.3(COL6A1):c.1141G>A (p.Glu381Lys)
|
|
|
|
NM_001848.3(COL6A1):c.1151G>C (p.Arg384Thr)
|
rs2123474648
|
|
|
NM_001848.3(COL6A1):c.1155A>G (p.Pro385=)
|
|
|
|
NM_001848.3(COL6A1):c.1166G>C (p.Gly389Ala)
|
rs2123474665
|
|
|
NM_001848.3(COL6A1):c.1167A>G (p.Gly389=)
|
|
|
|
NM_001848.3(COL6A1):c.1179C>A (p.Asp393Glu)
|
|
|
|
NM_001848.3(COL6A1):c.1182+16G>T
|
rs2123474728
|
|
|
NM_001848.3(COL6A1):c.1182+17C>T
|
|
|
|
NM_001848.3(COL6A1):c.1182G>A (p.Glu394=)
|
rs1423443362
|
|
|
NM_001848.3(COL6A1):c.1183-15C>T
|
|
|
|
NM_001848.3(COL6A1):c.1183-18A>C
|
|
|
|
NM_001848.3(COL6A1):c.1191G>C (p.Pro397=)
|
rs531640667
|
|
|
NM_001848.3(COL6A1):c.1204C>A (p.Pro402Thr)
|
rs983326119
|
|
|
NM_001848.3(COL6A1):c.1206C>T (p.Pro402=)
|
|
|
|
NM_001848.3(COL6A1):c.1209C>G (p.Pro403=)
|
rs763249073
|
|
|
NM_001848.3(COL6A1):c.1210G>A (p.Gly404Arg)
|
|
|
|
NM_001848.3(COL6A1):c.1224G>T (p.Glu408Asp)
|
rs772775334
|
|
|
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu)
|
rs765826390
|
|
|
NM_001848.3(COL6A1):c.1230C>A (p.Gly410=)
|
rs147622862
|
|
|
NM_001848.3(COL6A1):c.1236+5G>C
|
rs376327142
|
|
|
NM_001848.3(COL6A1):c.1237-5C>T
|
|
|
|
NM_001848.3(COL6A1):c.1239G>T (p.Gly413=)
|
rs1245856941
|
|
|
NM_001848.3(COL6A1):c.1263C>T (p.Pro421=)
|
|
|
|
NM_001848.3(COL6A1):c.1266G>A (p.Gly422=)
|
|
|
|
NM_001848.3(COL6A1):c.126G>A (p.Leu42=)
|
|
|
|
NM_001848.3(COL6A1):c.1270C>T (p.Arg424Trp)
|
rs1034465336
|
|
|
NM_001848.3(COL6A1):c.1272+12A>G
|
|
|
|
NM_001848.3(COL6A1):c.1272+13G>A
|
rs2123475135
|
|
|
NM_001848.3(COL6A1):c.1272+3G>A
|
rs2123475120
|
|
|
NM_001848.3(COL6A1):c.1272G>A (p.Arg424=)
|
|
|
|
NM_001848.3(COL6A1):c.1273-12C>G
|
|
|
|
NM_001848.3(COL6A1):c.1273-18C>G
|
|
|
|
NM_001848.3(COL6A1):c.1276G>A (p.Gly426Ser)
|
rs2077783907
|
|
|
NM_001848.3(COL6A1):c.1281T>C (p.Pro427=)
|
rs2123475470
|
|
|
NM_001848.3(COL6A1):c.1287G>T (p.Glu429Asp)
|
|
|
|
NM_001848.3(COL6A1):c.130_133dup (p.Ser45fs)
|
rs2077714727
|
|
|
NM_001848.3(COL6A1):c.1317G>A (p.Arg439=)
|
rs1569518379
|
|
|
NM_001848.3(COL6A1):c.1318G>T (p.Gly440Ter)
|
rs2123475539
|
|
|
NM_001848.3(COL6A1):c.1330G>C (p.Asp444His)
|
rs778234022
|
|
|
NM_001848.3(COL6A1):c.1335+2_1335+3del
|
|
|
|
NM_001848.3(COL6A1):c.1335+3G>A
|
|
|
|
NM_001848.3(COL6A1):c.1335+7C>T
|
rs2123475569
|
|
|
NM_001848.3(COL6A1):c.1335+9C>T
|
|
|
|
NM_001848.3(COL6A1):c.1336-16G>T
|
|
|
|
NM_001848.3(COL6A1):c.1336-19dup
|
|
|
|
NM_001848.3(COL6A1):c.1336G>A (p.Gly446Ser)
|
|
|
|
NM_001848.3(COL6A1):c.1342G>A (p.Ala448Thr)
|
rs886057153
|
|
|
NM_001848.3(COL6A1):c.1351C>A (p.Gln451Lys)
|
rs762989478
|
|
|
NM_001848.3(COL6A1):c.1352A>T (p.Gln451Leu)
|
|
|
|
NM_001848.3(COL6A1):c.135T>C (p.Ser45=)
|
|
|
|
NM_001848.3(COL6A1):c.1367G>A (p.Arg456Lys)
|
|
|
|
NM_001848.3(COL6A1):c.1378G>T (p.Val460Phe)
|
rs375452881
|
|
|
NM_001848.3(COL6A1):c.1398+18G>A
|
|
|
|
NM_001848.3(COL6A1):c.1398+2T>G
|
rs1569518481
|
|
|
NM_001848.3(COL6A1):c.1398G>A (p.Pro466=)
|
rs886042955
|
|
|
NM_001848.3(COL6A1):c.1399-10C>G
|
|
|
|
NM_001848.3(COL6A1):c.1399-17T>C
|
|
|
|
NM_001848.3(COL6A1):c.13C>T (p.Arg5Cys)
|
rs1235513102
|
|
|
NM_001848.3(COL6A1):c.1400G>A (p.Gly467Asp)
|
|
|
|
NM_001848.3(COL6A1):c.1401C>T (p.Gly467=)
|
|
|
|
NM_001848.3(COL6A1):c.1414A>C (p.Ile472Leu)
|
rs773660427
|
|
|
NM_001848.3(COL6A1):c.1416C>T (p.Ile472=)
|
|
|
|
NM_001848.3(COL6A1):c.1417G>A (p.Gly473Arg)
|
rs766667205
|
|
|
NM_001848.3(COL6A1):c.1425del (p.Gly476fs)
|
rs878854398
|
|
|
NM_001848.3(COL6A1):c.1431C>T (p.Tyr477=)
|
|
|
|
NM_001848.3(COL6A1):c.1438G>A (p.Asp480Asn)
|
|
|
|
NM_001848.3(COL6A1):c.1446T>C (p.Gly482=)
|
|
|
|
NM_001848.3(COL6A1):c.1447C>T (p.Pro483Ser)
|
rs756017426
|
|
|
NM_001848.3(COL6A1):c.1461+10A>T
|
|
|
|
NM_001848.3(COL6A1):c.1461+7C>T
|
rs994516309
|
|
|
NM_001848.3(COL6A1):c.1462-12C>T
|
|
|
|
NM_001848.3(COL6A1):c.1475C>A (p.Ala492Asp)
|
rs117340427
|
|
|
NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr)
|
rs760275915
|
|
|
NM_001848.3(COL6A1):c.1485T>C (p.Pro495=)
|
|
|
|
NM_001848.3(COL6A1):c.148del (p.Ala49_Leu50insTer)
|
rs1556423728
|
|
|
NM_001848.3(COL6A1):c.1494C>A (p.Pro498=)
|
|
|
|
NM_001848.3(COL6A1):c.14G>A (p.Arg5His)
|
rs1556423460
|
|
|
NM_001848.3(COL6A1):c.1506G>A (p.Pro502=)
|
rs139987124
|
|
|
NM_001848.3(COL6A1):c.1506G>C (p.Pro502=)
|
rs139987124
|
|
|
NM_001848.3(COL6A1):c.1508G>A (p.Gly503Glu)
|
rs1556428597
|
|
|
NM_001848.3(COL6A1):c.1516G>A (p.Gly506Ser)
|
rs2123482543
|
|
|
NM_001848.3(COL6A1):c.1524+13C>T
|
|
|
|
NM_001848.3(COL6A1):c.1524+18C>T
|
|
|
|
NM_001848.3(COL6A1):c.1524+19G>A
|
rs2276256
|
|
|
NM_001848.3(COL6A1):c.1524+19G>C
|
rs2276256
|
|
|
NM_001848.3(COL6A1):c.1524+1G>A
|
|
|
|
NM_001848.3(COL6A1):c.1525-18G>T
|
|
|
|
NM_001848.3(COL6A1):c.1525-20C>T
|
|
|
|
NM_001848.3(COL6A1):c.1533C>T (p.Asp511=)
|
|
|
|
NM_001848.3(COL6A1):c.1537C>T (p.Pro513Ser)
|
rs1202320827
|
|
|
NM_001848.3(COL6A1):c.1555_1556delinsAG (p.Glu519Arg)
|
|
|
|
NM_001848.3(COL6A1):c.1567G>A (p.Gly523Ser)
|
rs2123483067
|
|
|
NM_001848.3(COL6A1):c.1570T>C (p.Phe524Leu)
|
rs2077817452
|
|
|
NM_001848.3(COL6A1):c.1575+11G>A
|
|
|
|
NM_001848.3(COL6A1):c.1575+1G>A
|
rs1002726737
|
|
|
NM_001848.3(COL6A1):c.1575+2_1575+3insCTT
|
rs758434455
|
|
|
NM_001848.3(COL6A1):c.1575+2dup
|
rs758434455
|
|
|
NM_001848.3(COL6A1):c.1576-1G>A
|
rs112814811
|
|
|
NM_001848.3(COL6A1):c.1576-2A>G
|
|
|
|
NM_001848.3(COL6A1):c.1576-2_1576-1del
|
rs1569518725
|
|
|
NM_001848.3(COL6A1):c.1591del (p.Arg531fs)
|
rs2077819120
|
|
|
NM_001848.3(COL6A1):c.159G>A (p.Lys53=)
|
|
|
|
NM_001848.3(COL6A1):c.15T>A (p.Arg5=)
|
rs2123459083
|
|
|
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)
|
rs764556767
|
|
|
NM_001848.3(COL6A1):c.1611+10C>T
|
|
|
|
NM_001848.3(COL6A1):c.1611C>A (p.Asn537Lys)
|
rs200023632
|
|
|
NM_001848.3(COL6A1):c.1612-11C>T
|
rs370801259
|
|
|
NM_001848.3(COL6A1):c.1612-13C>T
|
|
|
|
NM_001848.3(COL6A1):c.1612-3C>T
|
rs767913216
|
|
|
NM_001848.3(COL6A1):c.1612-4G>A
|
|
|
|
NM_001848.3(COL6A1):c.1614C>T (p.Gly538=)
|
|
|
|
NM_001848.3(COL6A1):c.1619A>G (p.Lys540Arg)
|
rs1603593300
|
|
|
NM_001848.3(COL6A1):c.1640G>A (p.Gly547Glu)
|
|
|
|
NM_001848.3(COL6A1):c.1642G>A (p.Asp548Asn)
|
|
|
|
NM_001848.3(COL6A1):c.1645G>A (p.Glu549Lys)
|
|
|
|
NM_001848.3(COL6A1):c.1654G>A (p.Ala552Thr)
|
rs1397088680
|
|
|
NM_001848.3(COL6A1):c.1654G>C (p.Ala552Pro)
|
|
|
|
NM_001848.3(COL6A1):c.1657G>A (p.Gly553Arg)
|
rs2077822326
|
|
|
NM_001848.3(COL6A1):c.1662C>T (p.Asp554=)
|
|
|
|
NM_001848.3(COL6A1):c.1671C>G (p.Asp557Glu)
|
|
|
|
NM_001848.3(COL6A1):c.1674+15G>C
|
rs749423625
|
|
|
NM_001848.3(COL6A1):c.1674+1G>A
|
rs2123484131
|
|
|
NM_001848.3(COL6A1):c.1674+3_1674+6del
|
|
|
|
NM_001848.3(COL6A1):c.1674+7G>A
|
|
|
|
NM_001848.3(COL6A1):c.1675-5T>G
|
|
|
|
NM_001848.3(COL6A1):c.1683C>T (p.Asp561=)
|
rs1603593356
|
|
|
NM_001848.3(COL6A1):c.1685T>C (p.Ile562Thr)
|
rs775182845
|
|
|
NM_001848.3(COL6A1):c.1719C>T (p.Tyr573=)
|
rs1013945029
|
|
|
NM_001848.3(COL6A1):c.1721G>C (p.Arg574Pro)
|
|
|
|
NM_001848.3(COL6A1):c.1722G>A (p.Arg574=)
|
rs1004303947
|
|
|
NM_001848.3(COL6A1):c.1724dup (p.Pro576fs)
|
rs2077824006
|
|
|
NM_001848.3(COL6A1):c.1730A>C (p.Glu577Ala)
|
|
|
|
NM_001848.3(COL6A1):c.1731G>C (p.Glu577Asp)
|
rs755214430
|
|
|
NM_001848.3(COL6A1):c.1738del (p.Gln580fs)
|
rs2123484530
|
|
|
NM_001848.3(COL6A1):c.1739A>G (p.Gln580Arg)
|
rs1359915404
|
|
|
NM_001848.3(COL6A1):c.1740+14G>T
|
|
|
|
NM_001848.3(COL6A1):c.1740+17G>A
|
rs200299050
|
|
|
NM_001848.3(COL6A1):c.1740+18G>A
|
rs376726434
|
|
|
NM_001848.3(COL6A1):c.1740+18G>T
|
rs376726434
|
|
|
NM_001848.3(COL6A1):c.1740+19G>A
|
|
|
|
NM_001848.3(COL6A1):c.1740+3G>A
|
|
|
|
NM_001848.3(COL6A1):c.1741-14C>T
|
rs201088377
|
|
|
NM_001848.3(COL6A1):c.1755C>T (p.His585=)
|
|
|
|
NM_001848.3(COL6A1):c.1760G>A (p.Gly587Glu)
|
rs1188795991
|
|
|
NM_001848.3(COL6A1):c.1763C>A (p.Pro588Gln)
|
|
|
|
NM_001848.3(COL6A1):c.1776+7G>A
|
|
|
|
NM_001848.3(COL6A1):c.1777-20C>G
|
|
|
|
NM_001848.3(COL6A1):c.1777-8C>T
|
|
|
|
NM_001848.3(COL6A1):c.1783G>A (p.Glu595Lys)
|
rs367650141
|
|
|
NM_001848.3(COL6A1):c.17C>G (p.Ala6Gly)
|
|
|
|
NM_001848.3(COL6A1):c.1801A>G (p.Met601Val)
|
|
|
|
NM_001848.3(COL6A1):c.1813+12T>C
|
|
|
|
NM_001848.3(COL6A1):c.1813+13G>C
|
|
|
|
NM_001848.3(COL6A1):c.1813+20C>T
|
|
|
|
NM_001848.3(COL6A1):c.1813+3_1813+6del
|
|
|
|
NM_001848.3(COL6A1):c.1814-15_1814-12del
|
rs1399956018
|
|
|
NM_001848.3(COL6A1):c.1814-6C>G
|
rs182804464
|
|
|
NM_001848.3(COL6A1):c.1814-6C>T
|
|
|
|
NM_001848.3(COL6A1):c.1814-7_1814-6delinsAA
|
rs2077839436
|
|
|
NM_001848.3(COL6A1):c.1816T>A (p.Cys606Ser)
|
|
|
|
NM_001848.3(COL6A1):c.1819T>C (p.Cys607Arg)
|
|
|
|
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu)
|
rs1439633596
|
|
|
NM_001848.3(COL6A1):c.1822+10A>G
|
|
|
|
NM_001848.3(COL6A1):c.1822+11G>A
|
rs566601241
|
|
|
NM_001848.3(COL6A1):c.1822+11G>T
|
rs566601241
|
|
|
NM_001848.3(COL6A1):c.1822+14del
|
|
|
|
NM_001848.3(COL6A1):c.1822+9C>G
|
rs373566530
|
|
|
NM_001848.3(COL6A1):c.1822+9C>T
|
|
|
|
NM_001848.3(COL6A1):c.1823-12C>T
|
|
|
|
NM_001848.3(COL6A1):c.1823-13C>T
|
rs571173076
|
|
|
NM_001848.3(COL6A1):c.1823-14G>A
|
|
|
|
NM_001848.3(COL6A1):c.1823-1G>T
|
rs1569519030
|
|
|
NM_001848.3(COL6A1):c.1827C>T (p.Cys609=)
|
|
|
|
NM_001848.3(COL6A1):c.1830G>A (p.Lys610=)
|
|
|
|
NM_001848.3(COL6A1):c.1835G>T (p.Gly612Val)
|
rs1222901174
|
|
|
NM_001848.3(COL6A1):c.1837C>T (p.Pro613Ser)
|
|
|
|
NM_001848.3(COL6A1):c.1840A>G (p.Ile614Val)
|
|
|
|
NM_001848.3(COL6A1):c.1842C>T (p.Ile614=)
|
|
|
|
NM_001848.3(COL6A1):c.1843G>A (p.Asp615Asn)
|
|
|
|
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del)
|
rs1085307560
|
|
|
NM_001848.3(COL6A1):c.1846C>T (p.Leu616Phe)
|
rs1423091612
|
|
|
NM_001848.3(COL6A1):c.1855G>T (p.Val619Leu)
|
rs150938324
|
|
|
NM_001848.3(COL6A1):c.185T>G (p.Val62Gly)
|
rs1603589342
|
|
|
NM_001848.3(COL6A1):c.1867_1868del (p.Ser623fs)
|
rs2123488904
|
|
|
NM_001848.3(COL6A1):c.1868C>G (p.Ser623Ter)
|
|
|
|
NM_001848.3(COL6A1):c.1877T>C (p.Ile626Thr)
|
rs781626943
|
|
|
NM_001848.3(COL6A1):c.1887G>A (p.Gln629=)
|
rs1447613750
|
|
|
NM_001848.3(COL6A1):c.1911C>A (p.Phe637Leu)
|
rs552239546
|
|
|
NM_001848.3(COL6A1):c.1914C>T (p.Val638=)
|
rs867670442
|
|
|
NM_001848.3(COL6A1):c.1939C>T (p.Arg647Trp)
|
|
|
|
NM_001848.3(COL6A1):c.1950G>A (p.Leu650=)
|
rs375448277
|
|
|
NM_001848.3(COL6A1):c.1951G>T (p.Val651Phe)
|
|
|
|
NM_001848.3(COL6A1):c.1956+11G>A
|
|
|
|
NM_001848.3(COL6A1):c.1956+16G>T
|
|
|
|
NM_001848.3(COL6A1):c.1956+19C>T
|
|
|
|
NM_001848.3(COL6A1):c.1956+20G>A
|
|
|
|
NM_001848.3(COL6A1):c.1957-8T>A
|
|
|
|
NM_001848.3(COL6A1):c.1959C>G (p.Phe653Leu)
|
rs112104768
|
|
|
NM_001848.3(COL6A1):c.1959C>T (p.Phe653=)
|
rs112104768
|
|
|
NM_001848.3(COL6A1):c.1960G>C (p.Glu654Gln)
|
rs375318905
|
|
|
NM_001848.3(COL6A1):c.1963_1971del (p.Pro655_Gln657del)
|
|
|
|
NM_001848.3(COL6A1):c.1973C>T (p.Ser658Leu)
|
rs1260709010
|
|
|
NM_001848.3(COL6A1):c.1979C>A (p.Ala660Glu)
|
|
|
|
NM_001848.3(COL6A1):c.1980G>A (p.Ala660=)
|
rs370780432
|
|
|
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala)
|
rs771702139
|
|
|
NM_001848.3(COL6A1):c.1987G>A (p.Val663Met)
|
|
|
|
NM_001848.3(COL6A1):c.1989G>A (p.Val663=)
|
rs760624194
|
|
|
NM_001848.3(COL6A1):c.1991A>C (p.Gln664Pro)
|
|
|
|
NM_001848.3(COL6A1):c.19C>A (p.Leu7Met)
|
|
|
|
NM_001848.3(COL6A1):c.1A>T (p.Met1Leu)
|
rs2123459059
|
|
|
NM_001848.3(COL6A1):c.2019C>G (p.His673Gln)
|
rs141424786
|
|
|
NM_001848.3(COL6A1):c.2022G>A (p.Val674=)
|
rs764099825
|
|
|
NM_001848.3(COL6A1):c.2030G>T (p.Arg677Leu)
|
rs373731596
|
|
|
NM_001848.3(COL6A1):c.2035C>G (p.Pro679Ala)
|
|
|
|
NM_001848.3(COL6A1):c.2050G>A (p.Val684Met)
|
rs138312247
|
|
|
NM_001848.3(COL6A1):c.2050G>T (p.Val684Leu)
|
rs138312247
|
|
|
NM_001848.3(COL6A1):c.2052G>A (p.Val684=)
|
|
|
|
NM_001848.3(COL6A1):c.2052G>T (p.Val684=)
|
rs1219591102
|
|
|
NM_001848.3(COL6A1):c.2063A>C (p.Lys688Thr)
|
|
|
|
NM_001848.3(COL6A1):c.2066+12A>C
|
|
|
|
NM_001848.3(COL6A1):c.2066+13C>T
|
|
|
|
NM_001848.3(COL6A1):c.2066+15C>A
|
rs201407082
|
|
|
NM_001848.3(COL6A1):c.2066+15C>T
|
rs201407082
|
|
|
NM_001848.3(COL6A1):c.2066+16G>A
|
|
|
|
NM_001848.3(COL6A1):c.2066+16G>T
|
|
|
|
NM_001848.3(COL6A1):c.2066+2T>C
|
rs2077849329
|
|
|
NM_001848.3(COL6A1):c.2067-15C>T
|
|
|
|
NM_001848.3(COL6A1):c.2075A>G (p.Lys692Arg)
|
rs2123490353
|
|
|
NM_001848.3(COL6A1):c.2077A>C (p.Ser693Arg)
|
|
|
|
NM_001848.3(COL6A1):c.2093C>T (p.Ala698Val)
|
rs2123490392
|
|
|
NM_001848.3(COL6A1):c.2094G>A (p.Ala698=)
|
|
|
|
NM_001848.3(COL6A1):c.2108C>T (p.Thr703Met)
|
|
|
|
NM_001848.3(COL6A1):c.2116G>T (p.Ala706Ser)
|
|
|
|
NM_001848.3(COL6A1):c.2118C>T (p.Ala706=)
|
rs2077850957
|
|
|
NM_001848.3(COL6A1):c.2121G>T (p.Leu707=)
|
|
|
|
NM_001848.3(COL6A1):c.2131C>T (p.Arg711Trp)
|
|
|
|
NM_001848.3(COL6A1):c.2134G>C (p.Asp712His)
|
|
|
|
NM_001848.3(COL6A1):c.2148G>C (p.Pro716=)
|
rs780032842
|
|
|
NM_001848.3(COL6A1):c.2157G>C (p.Pro719=)
|
rs377152990
|
|
|
NM_001848.3(COL6A1):c.2161A>C (p.Asn721His)
|
|
|
|
NM_001848.3(COL6A1):c.2163C>A (p.Asn721Lys)
|
|
|
|
NM_001848.3(COL6A1):c.2169C>T (p.Ile723=)
|
|
|
|
NM_001848.3(COL6A1):c.2170G>A (p.Ala724Thr)
|
|
|
|
NM_001848.3(COL6A1):c.2190G>T (p.Gly730=)
|
|
|
|
NM_001848.3(COL6A1):c.2193C>T (p.Arg731=)
|
rs1025417641
|
|
|
NM_001848.3(COL6A1):c.2202_2213dup (p.Gln735_Thr738dup)
|
rs2123490613
|
|
|
NM_001848.3(COL6A1):c.2220G>C (p.Pro740=)
|
rs138976133
|
|
|
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=)
|
rs138976133
|
|
|
NM_001848.3(COL6A1):c.2226C>T (p.Asn742=)
|
|
|
|
NM_001848.3(COL6A1):c.2227G>C (p.Val743Leu)
|
|
|
|
NM_001848.3(COL6A1):c.2231T>C (p.Leu744Pro)
|
|
|
|
NM_001848.3(COL6A1):c.223G>C (p.Asp75His)
|
|
|
|
NM_001848.3(COL6A1):c.2250+11C>T
|
|
|
|
NM_001848.3(COL6A1):c.2250+9G>A
|
rs1342014969
|
|
|
NM_001848.3(COL6A1):c.2250G>C (p.Gln750His)
|
|
|
|
NM_001848.3(COL6A1):c.2251-11_2251-8del
|
|
|
|
NM_001848.3(COL6A1):c.2251-16C>T
|
rs1243894570
|
|
|
NM_001848.3(COL6A1):c.225C>G (p.Asp75Glu)
|
|
|
|
NM_001848.3(COL6A1):c.2266A>G (p.Ile756Val)
|
|
|
|
NM_001848.3(COL6A1):c.227+16C>T
|
|
|
|
NM_001848.3(COL6A1):c.2285T>C (p.Phe762Ser)
|
rs886042688
|
|
|
NM_001848.3(COL6A1):c.2327G>A (p.Gly776Asp)
|
|
|
|
NM_001848.3(COL6A1):c.2328C>T (p.Gly776=)
|
rs1434098396
|
|
|
NM_001848.3(COL6A1):c.2329C>T (p.Leu777=)
|
|
|
|
NM_001848.3(COL6A1):c.2330_2351dup (p.Leu786fs)
|
rs2123490954
|
|
|
NM_001848.3(COL6A1):c.2333C>T (p.Ala778Val)
|
|
|
|
NM_001848.3(COL6A1):c.2339C>A (p.Ser780Tyr)
|
rs2077853664
|
|
|
NM_001848.3(COL6A1):c.2344G>A (p.Gly782Ser)
|
|
|
|
NM_001848.3(COL6A1):c.2358C>T (p.Leu786=)
|
rs886042391
|
|
|
NM_001848.3(COL6A1):c.235C>T (p.Arg79Cys)
|
|
|
|
NM_001848.3(COL6A1):c.2360C>T (p.Ser787Leu)
|
rs1203093809
|
|
|
NM_001848.3(COL6A1):c.2364G>A (p.Leu788=)
|
rs1603594564
|
|
|
NM_001848.3(COL6A1):c.2407A>C (p.Lys803Gln)
|
|
|
|
NM_001848.3(COL6A1):c.2430del (p.Ile809_Cys810insTer)
|
rs2077854422
|
|
|
NM_001848.3(COL6A1):c.2431_2434+36del
|
rs759918870
|
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCATAGGTGCGCATGGGGCC
|
rs2123491106
|
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC
|
rs1569519143
|
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCAGGGCCGTCCCAGATCTGCGTAGGTGCACGCGGGGCC
|
|
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGT
|
rs1569519146
|
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15inv
|
|
|
|
NM_001848.3(COL6A1):c.2434+15_2434+54del
|
rs1064795349
|
|
|
NM_001848.3(COL6A1):c.2434+15_2434+94del
|
rs1603594606
|
|
|
NM_001848.3(COL6A1):c.2434+16C>G
|
rs2123491221
|
|
|
NM_001848.3(COL6A1):c.2434+19_2434+20insAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCAC
|
rs2123491242
|
|
|
NM_001848.3(COL6A1):c.2434+45_2434+124del
|
rs2123491228
|
|
|
NM_001848.3(COL6A1):c.2434+45_2434+84del
|
|
|
|
NM_001848.3(COL6A1):c.2434+4C>T
|
rs202147670
|
|
|
NM_001848.3(COL6A1):c.2434+5G>T
|
rs1360722232
|
|
|
NM_001848.3(COL6A1):c.2434+7A>C
|
rs769385161
|
|
|
NM_001848.3(COL6A1):c.2434+8T>A
|
rs1227258893
|
|
|
NM_001848.3(COL6A1):c.2434+8T>C
|
|
|
|
NM_001848.3(COL6A1):c.2434+8T>G
|
|
|
|
NM_001848.3(COL6A1):c.2434+9G>T
|
|
|
|
NM_001848.3(COL6A1):c.2435-13T>C
|
rs746838395
|
|
|
NM_001848.3(COL6A1):c.2435-13T>G
|
rs746838395
|
|
|
NM_001848.3(COL6A1):c.2435-2A>G
|
rs940473416
|
|
|
NM_001848.3(COL6A1):c.2438A>G (p.Lys813Arg)
|
|
|
|
NM_001848.3(COL6A1):c.2440A>C (p.Lys814Gln)
|
rs2123491909
|
|
|
NM_001848.3(COL6A1):c.2450A>G (p.Asp817Gly)
|
|
|
|
NM_001848.3(COL6A1):c.2457C>T (p.Thr819=)
|
rs1182297662
|
|
|
NM_001848.3(COL6A1):c.245G>A (p.Arg82Gln)
|
|
|
|
NM_001848.3(COL6A1):c.2464+14C>T
|
|
|
|
NM_001848.3(COL6A1):c.2464+15G>A
|
rs753573923
|
|
|
NM_001848.3(COL6A1):c.2464+1G>A
|
rs113290209
|
|
|
NM_001848.3(COL6A1):c.2475C>T (p.Ser825=)
|
rs1009381380
|
|
|
NM_001848.3(COL6A1):c.2476T>A (p.Ser826Thr)
|
rs1427066240
|
|
|
NM_001848.3(COL6A1):c.2483C>A (p.Ala828Asp)
|
|
|
|
NM_001848.3(COL6A1):c.2487C>T (p.Asp829=)
|
|
|
|
NM_001848.3(COL6A1):c.2511C>T (p.Ser837=)
|
|
|
|
NM_001848.3(COL6A1):c.2513C>T (p.Ala838Val)
|
rs1486288129
|
|
|
NM_001848.3(COL6A1):c.2545A>G (p.Lys849Glu)
|
|
|
|
NM_001848.3(COL6A1):c.2548C>T (p.Arg850Cys)
|
|
|
|
NM_001848.3(COL6A1):c.2554G>A (p.Ala852Thr)
|
|
|
|
NM_001848.3(COL6A1):c.2554G>C (p.Ala852Pro)
|
rs748327110
|
|
|
NM_001848.3(COL6A1):c.2565G>C (p.Leu855=)
|
|
|
|
NM_001848.3(COL6A1):c.2566G>A (p.Ala856Thr)
|
|
|
|
NM_001848.3(COL6A1):c.2572C>T (p.Arg858Cys)
|
|
|
|
NM_001848.3(COL6A1):c.2580C>T (p.Leu860=)
|
rs2123492588
|
|
|
NM_001848.3(COL6A1):c.2586G>A (p.Ala862=)
|
|
|
|
NM_001848.3(COL6A1):c.2595G>A (p.Thr865=)
|
rs367832752
|
|
|
NM_001848.3(COL6A1):c.2595G>C (p.Thr865=)
|
rs367832752
|
|
|
NM_001848.3(COL6A1):c.2607C>T (p.His869=)
|
|
|
|
NM_001848.3(COL6A1):c.2611G>C (p.Val871Leu)
|
|
|
|
NM_001848.3(COL6A1):c.2621C>T (p.Ala874Val)
|
|
|
|
NM_001848.3(COL6A1):c.2623G>A (p.Val875Met)
|
|
|
|
NM_001848.3(COL6A1):c.2638G>A (p.Gly880Ser)
|
rs544927344
|
|
|
NM_001848.3(COL6A1):c.2638G>C (p.Gly880Arg)
|
|
|
|
NM_001848.3(COL6A1):c.2640C>T (p.Gly880=)
|
|
|
|
NM_001848.3(COL6A1):c.2654G>A (p.Arg885His)
|
|
|
|
NM_001848.3(COL6A1):c.2659G>A (p.Glu887Lys)
|
|
|
|
NM_001848.3(COL6A1):c.2663G>A (p.Arg888Gln)
|
rs138351067
|
|
|
NM_001848.3(COL6A1):c.2663G>C (p.Arg888Pro)
|
rs138351067
|
|
|
NM_001848.3(COL6A1):c.2666C>T (p.Ala889Val)
|
|
|
|
NM_001848.3(COL6A1):c.2672T>C (p.Leu891Pro)
|
rs2077862405
|
|
|
NM_001848.3(COL6A1):c.267C>T (p.Gly89=)
|
|
|
|
NM_001848.3(COL6A1):c.2680C>T (p.Leu894=)
|
rs1409263435
|
|
|
NM_001848.3(COL6A1):c.268G>A (p.Ala90Thr)
|
|
|
|
NM_001848.3(COL6A1):c.2698C>A (p.Leu900Met)
|
rs1226903258
|
|
|
NM_001848.3(COL6A1):c.269C>G (p.Ala90Gly)
|
rs766517983
|
|
|
NM_001848.3(COL6A1):c.2702C>G (p.Ala901Gly)
|
|
|
|
NM_001848.3(COL6A1):c.2703C>T (p.Ala901=)
|
|
|
|
NM_001848.3(COL6A1):c.2705G>A (p.Ser902Asn)
|
rs757422397
|
|
|
NM_001848.3(COL6A1):c.2713G>T (p.Asp905Tyr)
|
|
|
|
NM_001848.3(COL6A1):c.2723A>G (p.Asp908Gly)
|
|
|
|
NM_001848.3(COL6A1):c.2731A>G (p.Asn911Asp)
|
|
|
|
NM_001848.3(COL6A1):c.2731_2733del (p.Asn911del)
|
rs2123492948
|
|
|
NM_001848.3(COL6A1):c.2734G>A (p.Asp912Asn)
|
|
|
|
NM_001848.3(COL6A1):c.2751C>G (p.Asn917Lys)
|
|
|
|
NM_001848.3(COL6A1):c.2766T>C (p.Tyr922=)
|
rs889975432
|
|
|
NM_001848.3(COL6A1):c.2768T>G (p.Val923Gly)
|
rs755340450
|
|
|
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His)
|
rs144671871
|
|
|
NM_001848.3(COL6A1):c.2783G>T (p.Arg928Leu)
|
rs144671871
|
|
|
NM_001848.3(COL6A1):c.2786A>C (p.Glu929Ala)
|
|
|
|
NM_001848.3(COL6A1):c.278A>G (p.Tyr93Cys)
|
|
|
|
NM_001848.3(COL6A1):c.27C>G (p.Pro9=)
|
|
|
|
NM_001848.3(COL6A1):c.2807AGA[1] (p.Lys937del)
|
rs886043457
|
|
|
NM_001848.3(COL6A1):c.2808_2809delinsAC (p.Lys937Gln)
|
|
|
|
NM_001848.3(COL6A1):c.2821C>G (p.Leu941Val)
|
|
|
|
NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe)
|
rs147882179
|
|
|
NM_001848.3(COL6A1):c.2840C>T (p.Ser947Leu)
|
|
|
|
NM_001848.3(COL6A1):c.2846G>A (p.Gly949Asp)
|
|
|
|
NM_001848.3(COL6A1):c.2847C>T (p.Gly949=)
|
|
|
|
NM_001848.3(COL6A1):c.2857G>T (p.Ala953Ser)
|
rs150378645
|
|
|
NM_001848.3(COL6A1):c.285C>G (p.Asp95Glu)
|
rs145811554
|
|
|
NM_001848.3(COL6A1):c.2873C>A (p.Ala958Asp)
|
rs763228065
|
|
|
NM_001848.3(COL6A1):c.2873C>T (p.Ala958Val)
|
|
|
|
NM_001848.3(COL6A1):c.2874C>T (p.Ala958=)
|
rs769441014
|
|
|
NM_001848.3(COL6A1):c.288G>A (p.Glu96=)
|
|
|
|
NM_001848.3(COL6A1):c.2911G>C (p.Val971Leu)
|
rs769795690
|
|
|
NM_001848.3(COL6A1):c.2911G>T (p.Val971Leu)
|
rs769795690
|
|
|
NM_001848.3(COL6A1):c.2927G>A (p.Arg976His)
|
rs753485651
|
|
|
NM_001848.3(COL6A1):c.2930A>T (p.Gln977Leu)
|
|
|
|
NM_001848.3(COL6A1):c.2941C>A (p.Pro981Thr)
|
rs1569519253
|
|
|
NM_001848.3(COL6A1):c.2946C>G (p.His982Gln)
|
|
|
|
NM_001848.3(COL6A1):c.2965G>A (p.Gly989Ser)
|
rs138652066
|
|
|
NM_001848.3(COL6A1):c.2972C>T (p.Thr991Met)
|
|
|
|
NM_001848.3(COL6A1):c.2973G>A (p.Thr991=)
|
|
|
|
NM_001848.3(COL6A1):c.2975C>T (p.Ala992Val)
|
rs1316734507
|
|
|
NM_001848.3(COL6A1):c.2976C>G (p.Ala992=)
|
|
|
|
NM_001848.3(COL6A1):c.2977G>A (p.Glu993Lys)
|
|
|
|
NM_001848.3(COL6A1):c.2985C>T (p.Asp995=)
|
rs759217203
|
|
|
NM_001848.3(COL6A1):c.2989G>T (p.Ala997Ser)
|
|
|
|
NM_001848.3(COL6A1):c.2995G>A (p.Gly999Ser)
|
|
|
|
NM_001848.3(COL6A1):c.2996G>A (p.Gly999Asp)
|
rs1603595132
|
|
|
NM_001848.3(COL6A1):c.2998G>A (p.Glu1000Lys)
|
rs201456885
|
|
|
NM_001848.3(COL6A1):c.3000G>A (p.Glu1000=)
|
|
|
|
NM_001848.3(COL6A1):c.3006C>A (p.His1002Gln)
|
rs1180948133
|
|
|
NM_001848.3(COL6A1):c.3007C>T (p.Leu1003=)
|
rs2077865473
|
|
|
NM_001848.3(COL6A1):c.3014G>A (p.Arg1005His)
|
rs376999117
|
|
|
NM_001848.3(COL6A1):c.3014G>C (p.Arg1005Pro)
|
|
|
|
NM_001848.3(COL6A1):c.3016G>A (p.Val1006Ile)
|
|
|
|
NM_001848.3(COL6A1):c.3042C>A (p.Arg1014=)
|
|
|
|
NM_001848.3(COL6A1):c.3042C>T (p.Arg1014=)
|
|
|
|
NM_001848.3(COL6A1):c.3058_3061del (p.Thr1020fs)
|
rs766289958
|
|
|
NM_001848.3(COL6A1):c.305G>T (p.Gly102Val)
|
|
|
|
NM_001848.3(COL6A1):c.3060A>G (p.Thr1020=)
|
rs953326229
|
|
|
NM_001848.3(COL6A1):c.3069G>A (p.Arg1023=)
|
|
|
|
NM_001848.3(COL6A1):c.310_311del (p.Thr104fs)
|
|
|
|
NM_001848.3(COL6A1):c.310dup (p.Thr104fs)
|
|
|
|
NM_001848.3(COL6A1):c.314G>A (p.Arg105His)
|
|
|
|
NM_001848.3(COL6A1):c.314G>T (p.Arg105Leu)
|
rs754591267
|
|
|
NM_001848.3(COL6A1):c.316A>G (p.Met106Val)
|
rs1365404018
|
|
|
NM_001848.3(COL6A1):c.320C>T (p.Pro107Leu)
|
|
|
|
NM_001848.3(COL6A1):c.334G>T (p.Ala112Ser)
|
|
|
|
NM_001848.3(COL6A1):c.344G>A (p.Ser115Asn)
|
rs372627181
|
|
|
NM_001848.3(COL6A1):c.344G>C (p.Ser115Thr)
|
|
|
|
NM_001848.3(COL6A1):c.354C>T (p.Asp118=)
|
rs1569517713
|
|
|
NM_001848.3(COL6A1):c.356C>A (p.Ala119Glu)
|
|
|
|
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)
|
rs121912936
|
|
|
NM_001848.3(COL6A1):c.36G>C (p.Leu12=)
|
rs2123459117
|
|
|
NM_001848.3(COL6A1):c.375G>C (p.Lys125Asn)
|
rs1603589594
|
|
|
NM_001848.3(COL6A1):c.377G>T (p.Gly126Val)
|
rs1300015385
|
|
|
NM_001848.3(COL6A1):c.387C>A (p.Thr129=)
|
rs377140588
|
|
|
NM_001848.3(COL6A1):c.387C>T (p.Thr129=)
|
|
|
|
NM_001848.3(COL6A1):c.388G>A (p.Asp130Asn)
|
rs1235398371
|
|
|
NM_001848.3(COL6A1):c.402G>C (p.Lys134Asn)
|
|
|
|
NM_001848.3(COL6A1):c.40G>A (p.Ala14Thr)
|
rs1454397058
|
|
|
NM_001848.3(COL6A1):c.411G>A (p.Leu137=)
|
|
|
|
NM_001848.3(COL6A1):c.417G>A (p.Gln139=)
|
|
|
|
NM_001848.3(COL6A1):c.424G>A (p.Val142Met)
|
rs144282452
|
|
|
NM_001848.3(COL6A1):c.428+10C>T
|
rs1437662111
|
|
|
NM_001848.3(COL6A1):c.428+11C>T
|
|
|
|
NM_001848.3(COL6A1):c.428+14_428+15delinsGA
|
|
|
|
NM_001848.3(COL6A1):c.428+1G>A
|
rs1569517717
|
|
|
NM_001848.3(COL6A1):c.428+5G>A
|
rs1603589628
|
|
|
NM_001848.3(COL6A1):c.429-11C>T
|
|
|
|
NM_001848.3(COL6A1):c.429-13C>A
|
|
|
|
NM_001848.3(COL6A1):c.429-15C>T
|
|
|
|
NM_001848.3(COL6A1):c.429-17del
|
rs2123465809
|
|
|
NM_001848.3(COL6A1):c.429-19G>A
|
rs741956
|
|
|
NM_001848.3(COL6A1):c.429-19G>T
|
|
|
|
NM_001848.3(COL6A1):c.445G>A (p.Glu149Lys)
|
|
|
|
NM_001848.3(COL6A1):c.446A>T (p.Glu149Val)
|
rs2077739763
|
|
|
NM_001848.3(COL6A1):c.44G>T (p.Cys15Phe)
|
|
|
|
NM_001848.3(COL6A1):c.46T>C (p.Trp16Arg)
|
|
|
|
NM_001848.3(COL6A1):c.472G>A (p.Asp158Asn)
|
|
|
|
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg)
|
rs1471465037
|
|
|
NM_001848.3(COL6A1):c.477G>T (p.Gly159=)
|
|
|
|
NM_001848.3(COL6A1):c.490G>A (p.Gly164Ser)
|
|
|
|
NM_001848.3(COL6A1):c.497A>G (p.Lys166Arg)
|
rs980266782
|
|
|
NM_001848.3(COL6A1):c.503C>T (p.Pro168Leu)
|
|
|
|
NM_001848.3(COL6A1):c.509G>C (p.Gly170Ala)
|
rs1309872535
|
|
|
NM_001848.3(COL6A1):c.50_51del (p.Thr17fs)
|
rs747419878
|
|
|
NM_001848.3(COL6A1):c.513G>C (p.Gly171=)
|
rs1276849352
|
|
|
NM_001848.3(COL6A1):c.517G>A (p.Glu173Lys)
|
|
|
|
NM_001848.3(COL6A1):c.518A>T (p.Glu173Val)
|
rs1385535913
|
|
|
NM_001848.3(COL6A1):c.525T>A (p.Ala175=)
|
rs761552446
|
|
|
NM_001848.3(COL6A1):c.535G>A (p.Ala179Thr)
|
rs2077740453
|
|
|
NM_001848.3(COL6A1):c.541C>T (p.His181Tyr)
|
rs1556424938
|
|
|
NM_001848.3(COL6A1):c.543C>G (p.His181Gln)
|
|
|
|
NM_001848.3(COL6A1):c.548G>C (p.Gly183Ala)
|
rs766184155
|
|
|
NM_001848.3(COL6A1):c.549C>A (p.Gly183=)
|
rs398123636
|
|
|
NM_001848.3(COL6A1):c.550G>A (p.Val184Ile)
|
|
|
|
NM_001848.3(COL6A1):c.554_555del (p.Lys185fs)
|
rs1377090546
|
|
|
NM_001848.3(COL6A1):c.555_557del (p.Lys185_Val186delinsAsn)
|
|
|
|
NM_001848.3(COL6A1):c.559T>G (p.Phe187Val)
|
|
|
|
NM_001848.3(COL6A1):c.564G>A (p.Ser188=)
|
|
|
|
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs)
|
rs1603589162
|
|
|
NM_001848.3(COL6A1):c.571A>G (p.Ile191Val)
|
rs1273238821
|
|
|
NM_001848.3(COL6A1):c.57G>T (p.Ala19=)
|
|
|
|
NM_001848.3(COL6A1):c.580G>A (p.Asp194Asn)
|
|
|
|
NM_001848.3(COL6A1):c.583C>T (p.His195Tyr)
|
rs2077740811
|
|
|
NM_001848.3(COL6A1):c.588+12_588+13delinsTA
|
rs2123466169
|
|
|
NM_001848.3(COL6A1):c.588+12_588+13insAC
|
rs1556424960
|
|
|
NM_001848.3(COL6A1):c.588+16C>G
|
|
|
|
NM_001848.3(COL6A1):c.588+17_588+18insA
|
|
|
|
NM_001848.3(COL6A1):c.588+18C>T
|
|
|
|
NM_001848.3(COL6A1):c.588+18_588+19dup
|
rs111710378
|
|
|
NM_001848.3(COL6A1):c.588+19del
|
rs111710378
|
|
|
NM_001848.3(COL6A1):c.588+19dup
|
rs111710378
|
|
|
NM_001848.3(COL6A1):c.589-20A>C
|
|
|
|
NM_001848.3(COL6A1):c.589-3C>T
|
rs1288681930
|
|
|
NM_001848.3(COL6A1):c.589-8G>A
|
|
|
|
NM_001848.3(COL6A1):c.589G>C (p.Glu197Gln)
|
|
|
|
NM_001848.3(COL6A1):c.58C>T (p.Gln20Ter)
|
rs1603589167
|
|
|
NM_001848.3(COL6A1):c.594G>C (p.Pro198=)
|
rs376592866
|
|
|
NM_001848.3(COL6A1):c.603C>T (p.Ser201=)
|
|
|
|
NM_001848.3(COL6A1):c.604A>G (p.Ile202Val)
|
|
|
|
NM_001848.3(COL6A1):c.606C>T (p.Ile202=)
|
|
|
|
NM_001848.3(COL6A1):c.61G>C (p.Asp21His)
|
|
|
|
NM_001848.3(COL6A1):c.629G>A (p.Arg210Gln)
|
|
|
|
NM_001848.3(COL6A1):c.631C>G (p.Arg211Gly)
|
rs375217284
|
|
|
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys)
|
rs375217284
|
|
|
NM_001848.3(COL6A1):c.632G>A (p.Arg211His)
|
|
|
|
NM_001848.3(COL6A1):c.644C>T (p.Ala215Val)
|
|
|
|
NM_001848.3(COL6A1):c.64G>A (p.Glu22Lys)
|
rs1461577118
|
|
|
NM_001848.3(COL6A1):c.665G>T (p.Arg222Leu)
|
rs780638665
|
|
|
NM_001848.3(COL6A1):c.678G>A (p.Glu226=)
|
rs1370178953
|
|
|
NM_001848.3(COL6A1):c.695T>C (p.Ile232Thr)
|
|
|
|
NM_001848.3(COL6A1):c.699C>T (p.Asp233=)
|
rs2123466761
|
|
|
NM_001848.3(COL6A1):c.704T>C (p.Ile235Thr)
|
rs2077743440
|
|
|
NM_001848.3(COL6A1):c.716T>A (p.Ile239Asn)
|
rs2123466789
|
|
|
NM_001848.3(COL6A1):c.717+10C>T
|
|
|
|
NM_001848.3(COL6A1):c.717+9C>G
|
|
|
|
NM_001848.3(COL6A1):c.718-11dup
|
rs778494336
|
|
|
NM_001848.3(COL6A1):c.718-20G>A
|
|
|
|
NM_001848.3(COL6A1):c.718A>G (p.Lys240Glu)
|
|
|
|
NM_001848.3(COL6A1):c.720A>G (p.Lys240=)
|
rs147612667
|
|
|
NM_001848.3(COL6A1):c.720A>T (p.Lys240Asn)
|
|
|
|
NM_001848.3(COL6A1):c.724A>G (p.Asn242Asp)
|
|
|
|
NM_001848.3(COL6A1):c.727G>A (p.Val243Met)
|
|
|
|
NM_001848.3(COL6A1):c.729G>A (p.Val243=)
|
|
|
|
NM_001848.3(COL6A1):c.732G>A (p.Glu244=)
|
|
|
|
NM_001848.3(COL6A1):c.738+1G>T
|
rs2077744287
|
|
|
NM_001848.3(COL6A1):c.738+24del
|
|
|
|
NM_001848.3(COL6A1):c.739-11del
|
rs573196191
|
|
|
NM_001848.3(COL6A1):c.739-13T>C
|
rs2123467487
|
|
|
NM_001848.3(COL6A1):c.739-2A>G
|
rs2123467538
|
|
|
NM_001848.3(COL6A1):c.739-5C>T
|
rs369946755
|
|
|
NM_001848.3(COL6A1):c.739-6C>G
|
rs755793406
|
|
|
NM_001848.3(COL6A1):c.739-7C>T
|
rs1603590124
|
|
|
NM_001848.3(COL6A1):c.741C>T (p.Cys247=)
|
|
|
|
NM_001848.3(COL6A1):c.748_805-704del
|
|
|
|
NM_001848.3(COL6A1):c.750C>T (p.Phe250=)
|
rs748153811
|
|
|
NM_001848.3(COL6A1):c.751G>T (p.Glu251Ter)
|
|
|
|
NM_001848.3(COL6A1):c.756C>T (p.Cys252=)
|
|
|
|
NM_001848.3(COL6A1):c.759+12C>G
|
|
|
|
NM_001848.3(COL6A1):c.759+15C>T
|
|
|
|
NM_001848.3(COL6A1):c.759+15del
|
|
|
|
NM_001848.3(COL6A1):c.760-18G>A
|
|
|
|
NM_001848.3(COL6A1):c.760-19C>T
|
|
|
|
NM_001848.3(COL6A1):c.760-3C>T
|
|
|
|
NM_001848.3(COL6A1):c.760-5T>G
|
rs1322851367
|
|
|
NM_001848.3(COL6A1):c.760-7C>T
|
rs2123467721
|
|
|
NM_001848.3(COL6A1):c.761C>G (p.Pro254Arg)
|
|
|
|
NM_001848.3(COL6A1):c.763G>C (p.Ala255Pro)
|
rs145473829
|
|
|
NM_001848.3(COL6A1):c.775C>A (p.Pro259Thr)
|
rs2077747487
|
|
|
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs)
|
rs886043354
|
|
|
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)
|
rs886043351
|
|
|
NM_001848.3(COL6A1):c.788G>T (p.Gly263Val)
|
rs886043351
|
|
|
NM_001848.3(COL6A1):c.803A>G (p.Glu268Gly)
|
|
|
|
NM_001848.3(COL6A1):c.804+14C>T
|
|
|
|
NM_001848.3(COL6A1):c.804+1G>A
|
rs1385646650
|
|
|
NM_001848.3(COL6A1):c.804+20C>T
|
|
|
|
NM_001848.3(COL6A1):c.804+8G>A
|
|
|
|
NM_001848.3(COL6A1):c.804+9T>C
|
rs2123467834
|
|
|
NM_001848.3(COL6A1):c.805-11T>C
|
|
|
|
NM_001848.3(COL6A1):c.805-2A>C
|
rs398123639
|
|
|
NM_001848.3(COL6A1):c.805-2A>G
|
rs398123639
|
|
|
NM_001848.3(COL6A1):c.805-2A>T
|
rs398123639
|
|
|
NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu)
|
rs2077759104
|
|
|
NM_001848.3(COL6A1):c.811C>T (p.Arg271Ter)
|
rs1391624796
|
|
|
NM_001848.3(COL6A1):c.814G>C (p.Gly272Arg)
|
rs398123640
|
|
|
NM_001848.3(COL6A1):c.815G>A (p.Gly272Asp)
|
rs1064793840
|
|
|
NM_001848.3(COL6A1):c.821C>G (p.Pro274Arg)
|
rs201093313
|
|
|
NM_001848.3(COL6A1):c.823G>A (p.Gly275Arg)
|
rs1556425467
|
|
|
NM_001848.3(COL6A1):c.823G>T (p.Gly275Trp)
|
rs1556425467
|
|
|
NM_001848.3(COL6A1):c.824G>T (p.Gly275Val)
|
rs1556425468
|
|
|
NM_001848.3(COL6A1):c.833G>T (p.Gly278Val)
|
|
|
|
NM_001848.3(COL6A1):c.83C>T (p.Ala28Val)
|
|
|
|
NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg)
|
rs267606746
|
|
|
NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu)
|
rs886041383
|
|
|
NM_001848.3(COL6A1):c.842_858+7del
|
rs2077759485
|
|
|
NM_001848.3(COL6A1):c.846_854del (p.Glu282_Gly284del)
|
rs1556425474
|
|
|
NM_001848.3(COL6A1):c.849C>T (p.Ala283=)
|
rs1186770930
|
|
|
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)
|
rs121912938
|
|
|
NM_001848.3(COL6A1):c.858+10T>C
|
rs2123470427
|
|
|
NM_001848.3(COL6A1):c.858+13C>G
|
|
|
|
NM_001848.3(COL6A1):c.858+13C>T
|
|
|
|
NM_001848.3(COL6A1):c.858+5G>A
|
rs2123470416
|
|
|
NM_001848.3(COL6A1):c.858+5G>T
|
|
|
|
NM_001848.3(COL6A1):c.858+7G>C
|
rs2123470420
|
|
|
NM_001848.3(COL6A1):c.858+8C>T
|
|
|
|
NM_001848.3(COL6A1):c.859-15C>A
|
rs759271765
|
|
|
NM_001848.3(COL6A1):c.859-15C>T
|
|
|
|
NM_001848.3(COL6A1):c.859-1G>C
|
rs1556425531
|
|
|
NM_001848.3(COL6A1):c.859-20_859-17del
|
rs766293322
|
|
|
NM_001848.3(COL6A1):c.859-20_859-18delinsTGA
|
rs386819390
|
|
|
NM_001848.3(COL6A1):c.859-20_859-19inv
|
|
|
|
NM_001848.3(COL6A1):c.859-2A>G
|
|
|
|
NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg)
|
rs1057521152
|
|
|
NM_001848.3(COL6A1):c.85G>A (p.Val29Met)
|
rs766057159
|
|
|
NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu)
|
rs2077761954
|
|
|
NM_001848.3(COL6A1):c.861A>G (p.Gly287=)
|
|
|
|
NM_001848.3(COL6A1):c.865C>G (p.Pro289Ala)
|
rs777764932
|
|
|
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)
|
rs121912939
|
|
|
NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg)
|
rs121912939
|
|
|
NM_001848.3(COL6A1):c.868G>T (p.Gly290Trp)
|
rs121912939
|
|
|
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)
|
rs398123643
|
|
|
NM_001848.3(COL6A1):c.877G>C (p.Gly293Arg)
|
rs398123643
|
|
|
NM_001848.3(COL6A1):c.878G>A (p.Gly293Glu)
|
rs1603590641
|
|
|
NM_001848.3(COL6A1):c.878G>T (p.Gly293Val)
|
rs1603590641
|
|
|
NM_001848.3(COL6A1):c.880C>T (p.Pro294Ser)
|
|
|
|
NM_001848.3(COL6A1):c.883_903+27delinsCAGGACCTCGGACCTGAGG
|
|
|
|
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val)
|
rs1603590649
|
|
|
NM_001848.3(COL6A1):c.888G>A (p.Gly296=)
|
rs2123470925
|
|
|
NM_001848.3(COL6A1):c.894G>C (p.Gln298His)
|
rs371989252
|
|
|
NM_001848.3(COL6A1):c.895G>A (p.Gly299Arg)
|
rs2077762322
|
|
|
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu)
|
rs398123644
|
|
|
NM_001848.3(COL6A1):c.903+10_903+25del
|
|
|
|
NM_001848.3(COL6A1):c.903+12C>A
|
|
|
|
NM_001848.3(COL6A1):c.903+12C>G
|
|
|
|
NM_001848.3(COL6A1):c.903+12C>T
|
|
|
|
NM_001848.3(COL6A1):c.903+13C>A
|
rs199632006
|
|
|
NM_001848.3(COL6A1):c.903+13C>G
|
rs199632006
|
|
|
NM_001848.3(COL6A1):c.903+13_903+14delinsTA
|
rs2123470988
|
|
|
NM_001848.3(COL6A1):c.903+14del
|
rs757968177
|
|
|
NM_001848.3(COL6A1):c.903+18C>A
|
|
|
|
NM_001848.3(COL6A1):c.903+1G>T
|
rs1569518119
|
|
|
NM_001848.3(COL6A1):c.903+20T>C
|
rs2123470996
|
|
|
NM_001848.3(COL6A1):c.903+20T>G
|
|
|
|
NM_001848.3(COL6A1):c.903+2_903+10del
|
|
|
|
NM_001848.3(COL6A1):c.904-10G>A
|
rs794727027
|
|
|
NM_001848.3(COL6A1):c.904-14C>T
|
|
|
|
NM_001848.3(COL6A1):c.904-18C>T
|
|
|
|
NM_001848.3(COL6A1):c.904-2A>G
|
rs1057519174
|
|
|
NM_001848.3(COL6A1):c.904-39A>G
|
rs1569518138
|
|
|
NM_001848.3(COL6A1):c.904-39A>T
|
rs1569518138
|
|
|
NM_001848.3(COL6A1):c.904-3T>G
|
|
|
|
NM_001848.3(COL6A1):c.905G>A (p.Gly302Glu)
|
rs1556425566
|
|
|
NM_001848.3(COL6A1):c.913G>C (p.Gly305Arg)
|
rs1469287281
|
|
|
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu)
|
rs886042684
|
|
|
NM_001848.3(COL6A1):c.918C>A (p.Ser306Arg)
|
|
|
|
NM_001848.3(COL6A1):c.923G>T (p.Gly308Val)
|
rs2077763346
|
|
|
NM_001848.3(COL6A1):c.924G>A (p.Gly308=)
|
rs374654116
|
|
|
NM_001848.3(COL6A1):c.925G>A (p.Glu309Lys)
|
|
|
|
NM_001848.3(COL6A1):c.928_930+23del
|
|
|
|
NM_001848.3(COL6A1):c.928_930del (p.Lys310del)
|
rs886043114
|
|
|
NM_001848.3(COL6A1):c.930+10G>A
|
rs772379034
|
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
|
NM_001848.3(COL6A1):c.930+19C>T
|
|
|
|
NM_001848.3(COL6A1):c.930+1G>A
|
rs886042902
|
|
|
NM_001848.3(COL6A1):c.930+20G>A
|
|
|
|
NM_001848.3(COL6A1):c.930+20G>C
|
rs765683206
|
|
|
NM_001848.3(COL6A1):c.931-10G>A
|
|
|
|
NM_001848.3(COL6A1):c.931-17G>A
|
rs568147495
|
|
|
NM_001848.3(COL6A1):c.931-17G>T
|
|
|
|
NM_001848.3(COL6A1):c.931-1G>A
|
rs886042354
|
|
|
NM_001848.3(COL6A1):c.931-1G>C
|
rs886042354
|
|
|
NM_001848.3(COL6A1):c.931-4G>T
|
rs758332867
|
|
|
NM_001848.3(COL6A1):c.931-8C>G
|
|
|
|
NM_001848.3(COL6A1):c.931G>T (p.Gly311Cys)
|
rs2123471915
|
|
|
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp)
|
rs886044231
|
|
|
NM_001848.3(COL6A1):c.934T>G (p.Ser312Ala)
|
rs771229905
|
|
|
NM_001848.3(COL6A1):c.93C>T (p.Phe31=)
|
rs753371577
|
|
|
NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu)
|
rs1556425679
|
|
|
NM_001848.3(COL6A1):c.941G>T (p.Gly314Val)
|
rs1556425679
|
|
|
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg)
|
rs794727059
|
|
|
NM_001848.3(COL6A1):c.957+10G>A
|
|
|
|
NM_001848.3(COL6A1):c.957+1G>A
|
rs886044535
|
|
|
NM_001848.3(COL6A1):c.957+1G>C
|
|
|
|
NM_001848.3(COL6A1):c.957+4A>T
|
|
|
|
NM_001848.3(COL6A1):c.957+6C>G
|
rs374926748
|
|
|
NM_001848.3(COL6A1):c.957G>A (p.Lys319=)
|
rs1057520625
|
|
|
NM_001848.3(COL6A1):c.957_957+7del
|
rs1556425687
|
|
|
NM_001848.3(COL6A1):c.958-11C>T
|
|
|
|
NM_001848.3(COL6A1):c.958-13T>G
|
rs1490319824
|
|
|
NM_001848.3(COL6A1):c.958-2A>G
|
rs1556425717
|
|
|
NM_001848.3(COL6A1):c.958-2_958-1del
|
rs2123472064
|
|
|
NM_001848.3(COL6A1):c.958-3_958-2del
|
|
|
|
NM_001848.3(COL6A1):c.958-5C>T
|
|
|
|
NM_001848.3(COL6A1):c.97+12C>G
|
rs2077709554
|
|
|
NM_001848.3(COL6A1):c.971_979del (p.Lys324_Gly326del)
|
rs2123472068
|
|
|
NM_001848.3(COL6A1):c.973C>G (p.Arg325Gly)
|
rs764704372
|
|
|
NM_001848.3(COL6A1):c.973C>T (p.Arg325Cys)
|
rs764704372
|
|
|
NM_001848.3(COL6A1):c.98-2_103del
|
rs1556423703
|
|
|
NM_001848.3(COL6A1):c.98-6G>A
|
rs886042599
|
|
|
NM_001848.3(COL6A1):c.987G>A (p.Gly329=)
|
|
|
|
NM_001848.3(COL6A1):c.995G>T (p.Gly332Val)
|
|
|
|
NM_001848.3(COL6A1):c.997G>T (p.Val333Leu)
|
|
|
|
NM_001848.3(COL6A1):c.9G>A (p.Ala3=)
|
rs369561233
|
|
|
NM_001849.3(COL6A2):c.-91_3071dup
|
|
|
|
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)
|
rs886043164
|
|
|
NM_001849.4(COL6A2):c.1000-10T>C
|
rs1036136617
|
|
|
NM_001849.4(COL6A2):c.1000-13C>T
|
|
|
|
NM_001849.4(COL6A2):c.1000-13_1030del
|
rs1555873353
|
|
|
NM_001849.4(COL6A2):c.1000-14C>T
|
|
|
|
NM_001849.4(COL6A2):c.1000-15C>T
|
rs902044548
|
|
|
NM_001849.4(COL6A2):c.1000-1G>T
|
rs1555873358
|
|
|
NM_001849.4(COL6A2):c.1000-2A>C
|
rs1555873356
|
|
|
NM_001849.4(COL6A2):c.1000-2A>G
|
rs1555873356
|
|
|
NM_001849.4(COL6A2):c.1009G>A (p.Gly337Arg)
|
rs2123631275
|
|
|
NM_001849.4(COL6A2):c.100AAC[2] (p.Asn36del)
|
|
|
|
NM_001849.4(COL6A2):c.1018G>C (p.Gly340Arg)
|
|
|
|
NM_001849.4(COL6A2):c.1026T>C (p.Pro342=)
|
rs1568930411
|
|
|
NM_001849.4(COL6A2):c.1027G>A (p.Gly343Ser)
|
|
|
|
NM_001849.4(COL6A2):c.102C>T (p.Asn34=)
|
|
|
|
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val)
|
rs1568930426
|
|
|
NM_001849.4(COL6A2):c.1039G>A (p.Asp347Asn)
|
|
|
|
NM_001849.4(COL6A2):c.1045G>A (p.Gly349Arg)
|
rs2078490056
|
|
|
NM_001849.4(COL6A2):c.1046_1053+1del
|
|
|
|
NM_001849.4(COL6A2):c.1053+1G>A
|
rs886043187
|
|
|
NM_001849.4(COL6A2):c.1053+2T>A
|
rs2123631474
|
|
|
NM_001849.4(COL6A2):c.1053+2T>G
|
rs2123631474
|
|
|
NM_001849.4(COL6A2):c.1053+3A>T
|
rs1555873388
|
|
|
NM_001849.4(COL6A2):c.1053+4dup
|
|
|
|
NM_001849.4(COL6A2):c.1054-12C>T
|
|
|
|
NM_001849.4(COL6A2):c.1054-2A>G
|
rs886044023
|
|
|
NM_001849.4(COL6A2):c.1054-7C>G
|
rs762738666
|
|
|
NM_001849.4(COL6A2):c.1059del (p.Asp354fs)
|
rs1555873508
|
|
|
NM_001849.4(COL6A2):c.1060G>C (p.Asp354His)
|
rs188184732
|
|
|
NM_001849.4(COL6A2):c.1061A>G (p.Asp354Gly)
|
|
|
|
NM_001849.4(COL6A2):c.1064G>T (p.Gly355Val)
|
|
|
|
NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu)
|
rs199929757
|
|
|
NM_001849.4(COL6A2):c.1075dup (p.Glu359fs)
|
rs2078499771
|
|
|
NM_001849.4(COL6A2):c.1078G>T (p.Ala360Ser)
|
rs1555873523
|
|
|
NM_001849.4(COL6A2):c.1079C>T (p.Ala360Val)
|
rs2078500027
|
|
|
NM_001849.4(COL6A2):c.1095G>A (p.Glu365=)
|
rs374673302
|
|
|
NM_001849.4(COL6A2):c.1095G>T (p.Glu365Asp)
|
rs374673302
|
|
|
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)
|
rs387906609
|
|
|
NM_001849.4(COL6A2):c.1102G>C (p.Asp368His)
|
|
|
|
NM_001849.4(COL6A2):c.1110C>T (p.Gly370=)
|
|
|
|
NM_001849.4(COL6A2):c.1112G>T (p.Gly371Val)
|
rs1601229481
|
|
|
NM_001849.4(COL6A2):c.1116+6T>G
|
|
|
|
NM_001849.4(COL6A2):c.1117-4C>T
|
rs2123635658
|
|
|
NM_001849.4(COL6A2):c.1117-8C>T
|
rs1601231143
|
|
|
NM_001849.4(COL6A2):c.1119G>A (p.Gly373=)
|
rs760861317
|
|
|
NM_001849.4(COL6A2):c.1121A>G (p.Asp374Gly)
|
|
|
|
NM_001849.4(COL6A2):c.1124C>G (p.Pro375Arg)
|
rs753834270
|
|
|
NM_001849.4(COL6A2):c.1125_1133del (p.375PGR[1])
|
rs2123635719
|
|
|
NM_001849.4(COL6A2):c.112C>T (p.Pro38Ser)
|
rs2078399168
|
|
|
NM_001849.4(COL6A2):c.1133_1141del (p.375PGR[1])
|
|
|
|
NM_001849.4(COL6A2):c.1139G>A (p.Arg380His)
|
|
|
|
NM_001849.4(COL6A2):c.1148C>G (p.Pro383Arg)
|
|
|
|
NM_001849.4(COL6A2):c.115+12C>T
|
|
|
|
NM_001849.4(COL6A2):c.115+13G>A
|
|
|
|
NM_001849.4(COL6A2):c.115+16G>A
|
|
|
|
NM_001849.4(COL6A2):c.115+17G>A
|
|
|
|
NM_001849.4(COL6A2):c.115+17del
|
|
|
|
NM_001849.4(COL6A2):c.115+19C>T
|
|
|
|
NM_001849.4(COL6A2):c.115+19_115+25del
|
rs757969178
|
|
|
NM_001849.4(COL6A2):c.115+6A>G
|
rs886042882
|
|
|
NM_001849.4(COL6A2):c.116-14C>G
|
|
|
|
NM_001849.4(COL6A2):c.1163G>A (p.Gly388Glu)
|
|
|
|
NM_001849.4(COL6A2):c.1179+1G>A
|
rs2078514224
|
|
|
NM_001849.4(COL6A2):c.1179+20C>T
|
|
|
|
NM_001849.4(COL6A2):c.1180-10C>G
|
rs777782503
|
|
|
NM_001849.4(COL6A2):c.1180-15C>T
|
|
|
|
NM_001849.4(COL6A2):c.1180-16T>C
|
rs1355356965
|
|
|
NM_001849.4(COL6A2):c.1180-1G>A
|
|
|
|
NM_001849.4(COL6A2):c.1180-2A>G
|
rs1601232289
|
|
|
NM_001849.4(COL6A2):c.1180-5_1180-3del
|
rs774369631
|
|
|
NM_001849.4(COL6A2):c.1181G>C (p.Gly394Ala)
|
rs756966358
|
|
|
NM_001849.4(COL6A2):c.1191C>T (p.Gly397=)
|
|
|
|
NM_001849.4(COL6A2):c.1196G>T (p.Ser399Ile)
|
|
|
|
NM_001849.4(COL6A2):c.1199G>T (p.Gly400Val)
|
rs1555873827
|
|
|
NM_001849.4(COL6A2):c.1202C>A (p.Ala401Asp)
|
|
|
|
NM_001849.4(COL6A2):c.1205C>T (p.Pro402Leu)
|
|
|
|
NM_001849.4(COL6A2):c.1215T>C (p.Pro405=)
|
rs558981930
|
|
|
NM_001849.4(COL6A2):c.1219G>A (p.Val407Met)
|
|
|
|
NM_001849.4(COL6A2):c.1225G>A (p.Gly409Arg)
|
rs1568931875
|
|
|
NM_001849.4(COL6A2):c.1236C>G (p.Gly412=)
|
|
|
|
NM_001849.4(COL6A2):c.1240C>T (p.Pro414Ser)
|
|
|
|
NM_001849.4(COL6A2):c.1249C>G (p.Arg417Gly)
|
rs1248584370
|
|
|
NM_001849.4(COL6A2):c.1249del (p.Arg417fs)
|
rs2078521344
|
|
|
NM_001849.4(COL6A2):c.124G>T (p.Asp42Tyr)
|
|
|
|
NM_001849.4(COL6A2):c.1250G>A (p.Arg417His)
|
|
|
|
NM_001849.4(COL6A2):c.1250G>T (p.Arg417Leu)
|
rs371383704
|
|
|
NM_001849.4(COL6A2):c.1251C>G (p.Arg417=)
|
rs61735827
|
|
|
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=)
|
rs61735827
|
|
|
NM_001849.4(COL6A2):c.1259A>G (p.Lys420Arg)
|
rs2123637568
|
|
|
NM_001849.4(COL6A2):c.1268C>T (p.Pro423Leu)
|
rs761030439
|
|
|
NM_001849.4(COL6A2):c.1269+14G>A
|
|
|
|
NM_001849.4(COL6A2):c.1269+17C>A
|
|
|
|
NM_001849.4(COL6A2):c.1269+7C>T
|
rs751071208
|
|
|
NM_001849.4(COL6A2):c.1269+9C>T
|
|
|
|
NM_001849.4(COL6A2):c.1269G>A (p.Pro423=)
|
rs144136807
|
|
|
NM_001849.4(COL6A2):c.1270-8C>A
|
rs1601233823
|
|
|
NM_001849.4(COL6A2):c.1270-8C>T
|
|
|
|
NM_001849.4(COL6A2):c.1273C>T (p.Arg425Cys)
|
rs761330909
|
|
|
NM_001849.4(COL6A2):c.1286C>T (p.Pro429Leu)
|
|
|
|
NM_001849.4(COL6A2):c.1293C>T (p.Thr431=)
|
rs1601233959
|
|
|
NM_001849.4(COL6A2):c.1294A>T (p.Lys432Ter)
|
rs752730608
|
|
|
NM_001849.4(COL6A2):c.1296G>C (p.Lys432Asn)
|
|
|
|
NM_001849.4(COL6A2):c.129C>T (p.Cys43=)
|
rs755324001
|
|
|
NM_001849.4(COL6A2):c.1300A>G (p.Ser434Gly)
|
|
|
|
NM_001849.4(COL6A2):c.1302C>T (p.Ser434=)
|
rs1230708321
|
|
|
NM_001849.4(COL6A2):c.1319C>T (p.Pro440Leu)
|
|
|
|
NM_001849.4(COL6A2):c.1324G>T (p.Gly442Trp)
|
|
|
|
NM_001849.4(COL6A2):c.1327G>T (p.Glu443Ter)
|
|
|
|
NM_001849.4(COL6A2):c.132C>T (p.Pro44=)
|
rs2123614144
|
|
|
NM_001849.4(COL6A2):c.1330_1332del (p.Lys444del)
|
rs2078532600
|
|
|
NM_001849.4(COL6A2):c.1332+11G>T
|
|
|
|
NM_001849.4(COL6A2):c.1332+20C>T
|
rs1222615509
|
|
|
NM_001849.4(COL6A2):c.1332+2T>C
|
rs2078532687
|
|
|
NM_001849.4(COL6A2):c.1333-12C>T
|
|
|
|
NM_001849.4(COL6A2):c.1333-5C>T
|
rs2078547153
|
|
|
NM_001849.4(COL6A2):c.1333-9_1333-5del
|
rs1193152104
|
|
|
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)
|
rs535007570
|
|
|
NM_001849.4(COL6A2):c.1336G>C (p.Asp446His)
|
rs535007570
|
|
|
NM_001849.4(COL6A2):c.1336G>T (p.Asp446Tyr)
|
|
|
|
NM_001849.4(COL6A2):c.1338C>T (p.Asp446=)
|
|
|
|
NM_001849.4(COL6A2):c.1345C>G (p.Pro449Ala)
|
|
|
|
NM_001849.4(COL6A2):c.1354C>T (p.Pro452Ser)
|
rs1269914621
|
|
|
NM_001849.4(COL6A2):c.1368T>C (p.Ala456=)
|
|
|
|
NM_001849.4(COL6A2):c.1375G>A (p.Val459Ile)
|
|
|
|
NM_001849.4(COL6A2):c.1378G>A (p.Gly460Ser)
|
|
|
|
NM_001849.4(COL6A2):c.1386A>C (p.Lys462Asn)
|
|
|
|
NM_001849.4(COL6A2):c.1392C>T (p.Ala464=)
|
rs1601235960
|
|
|
NM_001849.4(COL6A2):c.1395+20_1395+59dup
|
rs1363017776
|
|
|
NM_001849.4(COL6A2):c.1395+5G>C
|
rs1373123496
|
|
|
NM_001849.4(COL6A2):c.1395+7G>A
|
|
|
|
NM_001849.4(COL6A2):c.1395+7del
|
|
|
|
NM_001849.4(COL6A2):c.1395+9_1395+38del
|
|
|
|
NM_001849.4(COL6A2):c.1396-20A>C
|
rs1398193069
|
|
|
NM_001849.4(COL6A2):c.1396-26_1396-10del
|
rs1601237036
|
|
|
NM_001849.4(COL6A2):c.1396-4C>A
|
|
|
|
NM_001849.4(COL6A2):c.1396-8T>C
|
|
|
|
NM_001849.4(COL6A2):c.1398A>G (p.Gly466=)
|
rs758072176
|
|
|
NM_001849.4(COL6A2):c.1399G>A (p.Asp467Asn)
|
rs1464567484
|
|
|
NM_001849.4(COL6A2):c.1399G>C (p.Asp467His)
|
|
|
|
NM_001849.4(COL6A2):c.1403G>T (p.Arg468Leu)
|
rs746541506
|
|
|
NM_001849.4(COL6A2):c.140T>C (p.Val47Ala)
|
rs2123614177
|
|
|
NM_001849.4(COL6A2):c.1418C>A (p.Pro473His)
|
rs1472257957
|
|
|
NM_001849.4(COL6A2):c.1424G>A (p.Gly475Asp)
|
rs2123645059
|
|
|
NM_001849.4(COL6A2):c.1425C>A (p.Gly475=)
|
|
|
|
NM_001849.4(COL6A2):c.1425C>T (p.Gly475=)
|
rs745867374
|
|
|
NM_001849.4(COL6A2):c.1426C>T (p.Pro476Ser)
|
|
|
|
NM_001849.4(COL6A2):c.1430A>G (p.Gln477Arg)
|
|
|
|
NM_001849.4(COL6A2):c.1437_1447del (p.Leu480fs)
|
|
|
|
NM_001849.4(COL6A2):c.1449C>T (p.Pro483=)
|
rs528087300
|
|
|
NM_001849.4(COL6A2):c.1458+3_1458+6del
|
rs765084926
|
|
|
NM_001849.4(COL6A2):c.1458G>C (p.Gln486His)
|
rs2078559618
|
|
|
NM_001849.4(COL6A2):c.1459-11C>T
|
|
|
|
NM_001849.4(COL6A2):c.1459-13C>G
|
|
|
|
NM_001849.4(COL6A2):c.1459-17T>C
|
rs2123646541
|
|
|
NM_001849.4(COL6A2):c.1459-2A>G
|
rs749974929
|
|
|
NM_001849.4(COL6A2):c.1459-2_1459-1del
|
|
|
|
NM_001849.4(COL6A2):c.1459-5C>G
|
rs1362389378
|
|
|
NM_001849.4(COL6A2):c.1459-5del
|
|
|
|
NM_001849.4(COL6A2):c.1459-6C>T
|
rs2078566233
|
|
|
NM_001849.4(COL6A2):c.1459-7C>G
|
|
|
|
NM_001849.4(COL6A2):c.1459-8G>A
|
rs546206539
|
|
|
NM_001849.4(COL6A2):c.1465C>G (p.Arg489Gly)
|
rs727502829
|
|
|
NM_001849.4(COL6A2):c.1466G>C (p.Arg489Pro)
|
rs61735828
|
|
|
NM_001849.4(COL6A2):c.1474C>T (p.Pro492Ser)
|
rs778917725
|
|
|
NM_001849.4(COL6A2):c.148G>A (p.Val50Met)
|
rs727502826
|
|
|
NM_001849.4(COL6A2):c.148G>T (p.Val50Leu)
|
|
|
|
NM_001849.4(COL6A2):c.1497A>T (p.Gly499=)
|
|
|
|
NM_001849.4(COL6A2):c.1503A>C (p.Ser501=)
|
rs2123646795
|
|
|
NM_001849.4(COL6A2):c.1507C>T (p.Gln503Ter)
|
|
|
|
NM_001849.4(COL6A2):c.150G>T (p.Val50=)
|
rs2123614200
|
|
|
NM_001849.4(COL6A2):c.1516C>A (p.Pro506Thr)
|
|
|
|
NM_001849.4(COL6A2):c.1519A>G (p.Lys507Glu)
|
|
|
|
NM_001849.4(COL6A2):c.1521+10C>T
|
rs753385303
|
|
|
NM_001849.4(COL6A2):c.1521+19G>A
|
|
|
|
NM_001849.4(COL6A2):c.1521+4C>T
|
rs886043036
|
|
|
NM_001849.4(COL6A2):c.1521+9C>T
|
|
|
|
NM_001849.4(COL6A2):c.1522-12G>C
|
rs770511180
|
|
|
NM_001849.4(COL6A2):c.1522-13C>T
|
|
|
|
NM_001849.4(COL6A2):c.1522-17T>C
|
|
|
|
NM_001849.4(COL6A2):c.1522-1G>C
|
|
|
|
NM_001849.4(COL6A2):c.1522-20G>C
|
|
|
|
NM_001849.4(COL6A2):c.1522-3C>T
|
|
|
|
NM_001849.4(COL6A2):c.1522-8T>C
|
|
|
|
NM_001849.4(COL6A2):c.1522-9C>A
|
rs371576207
|
|
|
NM_001849.4(COL6A2):c.1530C>G (p.Pro510=)
|
rs199842179
|
|
|
NM_001849.4(COL6A2):c.1531G>C (p.Gly511Arg)
|
|
|
|
NM_001849.4(COL6A2):c.1534A>C (p.Arg512=)
|
|
|
|
NM_001849.4(COL6A2):c.1537C>G (p.Pro513Ala)
|
rs756315481
|
|
|
NM_001849.4(COL6A2):c.153G>A (p.Leu51=)
|
|
|
|
NM_001849.4(COL6A2):c.1548del (p.Tyr517fs)
|
rs2078576503
|
|
|
NM_001849.4(COL6A2):c.1559C>A (p.Pro520His)
|
rs2078576778
|
|
|
NM_001849.4(COL6A2):c.155A>G (p.Asp52Gly)
|
|
|
|
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter)
|
rs773686174
|
|
|
NM_001849.4(COL6A2):c.1568C>G (p.Ala523Gly)
|
rs769563817
|
|
|
NM_001849.4(COL6A2):c.1570C>T (p.Pro524Ser)
|
rs2078577021
|
|
|
NM_001849.4(COL6A2):c.1572+13C>G
|
rs2078577323
|
|
|
NM_001849.4(COL6A2):c.1572+1G>A
|
rs1057520717
|
|
|
NM_001849.4(COL6A2):c.1572+3G>A
|
rs372414400
|
|
|
NM_001849.4(COL6A2):c.1572+5G>A
|
|
|
|
NM_001849.4(COL6A2):c.1573-13G>A
|
rs771931533
|
|
|
NM_001849.4(COL6A2):c.1573-14T>C
|
rs2078581898
|
|
|
NM_001849.4(COL6A2):c.1573-20G>A
|
|
|
|
NM_001849.4(COL6A2):c.1573-8C>T
|
|
|
|
NM_001849.4(COL6A2):c.1584C>T (p.Gly528=)
|
|
|
|
NM_001849.4(COL6A2):c.1589C>G (p.Pro530Arg)
|
|
|
|
NM_001849.4(COL6A2):c.1590C>T (p.Pro530=)
|
rs758975198
|
|
|
NM_001849.4(COL6A2):c.1593C>T (p.Gly531=)
|
rs1394972929
|
|
|
NM_001849.4(COL6A2):c.1597C>T (p.Arg533Cys)
|
|
|
|
NM_001849.4(COL6A2):c.159C>G (p.Thr53=)
|
rs2123614218
|
|
|
NM_001849.4(COL6A2):c.1608+13C>G
|
|
|
|
NM_001849.4(COL6A2):c.1608+17G>C
|
|
|
|
NM_001849.4(COL6A2):c.1609-19C>T
|
|
|
|
NM_001849.4(COL6A2):c.1609G>A (p.Gly537Arg)
|
|
|
|
NM_001849.4(COL6A2):c.1613G>A (p.Gly538Asp)
|
|
|
|
NM_001849.4(COL6A2):c.1614C>G (p.Gly538=)
|
|
|
|
NM_001849.4(COL6A2):c.1619G>T (p.Gly540Val)
|
rs2123650884
|
|
|
NM_001849.4(COL6A2):c.1625T>G (p.Phe542Cys)
|
rs2123650926
|
|
|
NM_001849.4(COL6A2):c.1641_1667del (p.Gly549_Pro557del)
|
rs1555874762
|
|
|
NM_001849.4(COL6A2):c.1642C>A (p.Pro548Thr)
|
|
|
|
NM_001849.4(COL6A2):c.1647G>A (p.Gly549=)
|
|
|
|
NM_001849.4(COL6A2):c.1650del (p.Gly552fs)
|
|
|
|
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1])
|
rs773493556
|
|
|
NM_001849.4(COL6A2):c.1651AAAGGAGAG[3] (p.551KGE[3])
|
rs773493556
|
|
|
NM_001849.4(COL6A2):c.1657G>A (p.Glu553Lys)
|
|
|
|
NM_001849.4(COL6A2):c.1666G>C (p.Glu556Gln)
|
|
|
|
NM_001849.4(COL6A2):c.1668G>A (p.Glu556=)
|
|
|
|
NM_001849.4(COL6A2):c.1669C>T (p.Pro557Ser)
|
rs2078589816
|
|
|
NM_001849.4(COL6A2):c.1671+10A>C
|
rs915786
|
|
|
NM_001849.4(COL6A2):c.1671+12C>G
|
|
|
|
NM_001849.4(COL6A2):c.1671+1G>T
|
|
|
|
NM_001849.4(COL6A2):c.1671+4_1671+7del
|
rs2078589929
|
|
|
NM_001849.4(COL6A2):c.1671+7G>A
|
|
|
|
NM_001849.4(COL6A2):c.1671+9_1671+10inv
|
|
|
|
NM_001849.4(COL6A2):c.1671T>C (p.Pro557=)
|
rs2078589880
|
|
|
NM_001849.4(COL6A2):c.1672-12G>C
|
|
|
|
NM_001849.4(COL6A2):c.1672-15_1672-13del
|
|
|
|
NM_001849.4(COL6A2):c.1672-20C>T
|
|
|
|
NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn)
|
rs1555871311
|
|
|
NM_001849.4(COL6A2):c.1682G>T (p.Gly561Val)
|
|
|
|
NM_001849.4(COL6A2):c.1684C>A (p.Pro562Thr)
|
rs1035008109
|
|
|
NM_001849.4(COL6A2):c.1685C>G (p.Pro562Arg)
|
|
|
|
NM_001849.4(COL6A2):c.1689T>G (p.Pro563=)
|
|
|
|
NM_001849.4(COL6A2):c.1690G>A (p.Gly564Ser)
|
rs1172190604
|
|
|
NM_001849.4(COL6A2):c.1691G>C (p.Gly564Ala)
|
|
|
|
NM_001849.4(COL6A2):c.1693G>A (p.Glu565Lys)
|
|
|
|
NM_001849.4(COL6A2):c.1693_1694delinsAG (p.Glu565Arg)
|
rs2078631679
|
|
|
NM_001849.4(COL6A2):c.1697C>G (p.Pro566Arg)
|
|
|
|
NM_001849.4(COL6A2):c.16T>A (p.Cys6Ser)
|
rs2078397289
|
|
|
NM_001849.4(COL6A2):c.1703C>T (p.Pro568Leu)
|
rs2123658612
|
|
|
NM_001849.4(COL6A2):c.1713A>G (p.Pro571=)
|
rs2123658659
|
|
|
NM_001849.4(COL6A2):c.1715G>C (p.Arg572Thr)
|
|
|
|
NM_001849.4(COL6A2):c.1723C>T (p.Pro575Ser)
|
|
|
|
NM_001849.4(COL6A2):c.1734+16G>A
|
|
|
|
NM_001849.4(COL6A2):c.1734+9G>A
|
|
|
|
NM_001849.4(COL6A2):c.1735-11_1735-10delinsCT
|
rs2123659310
|
|
|
NM_001849.4(COL6A2):c.1743C>T (p.Pro581=)
|
rs764878153
|
|
|
NM_001849.4(COL6A2):c.1746_1763del (p.Pro583_Gly588del)
|
|
|
|
NM_001849.4(COL6A2):c.174C>G (p.Thr58=)
|
|
|
|
NM_001849.4(COL6A2):c.1750C>A (p.Pro584Thr)
|
rs779979272
|
|
|
NM_001849.4(COL6A2):c.1750C>G (p.Pro584Ala)
|
|
|
|
NM_001849.4(COL6A2):c.1751_1770+24dup
|
rs2078635959
|
|
|
NM_001849.4(COL6A2):c.1751del (p.Pro584fs)
|
rs886044398
|
|
|
NM_001849.4(COL6A2):c.1758C>A (p.Asp586Glu)
|
rs1568938716
|
|
|
NM_001849.4(COL6A2):c.1760C>T (p.Pro587Leu)
|
|
|
|
NM_001849.4(COL6A2):c.1769C>A (p.Thr590Lys)
|
rs142709940
|
|
|
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met)
|
rs142709940
|
|
|
NM_001849.4(COL6A2):c.176T>C (p.Met59Thr)
|
rs886043225
|
|
|
NM_001849.4(COL6A2):c.1770+12A>G
|
|
|
|
NM_001849.4(COL6A2):c.1770+13T>C
|
|
|
|
NM_001849.4(COL6A2):c.1770+15G>C
|
|
|
|
NM_001849.4(COL6A2):c.1770+1G>A
|
rs752803039
|
|
|
NM_001849.4(COL6A2):c.1770+1del
|
rs886044215
|
|
|
NM_001849.4(COL6A2):c.1770+2T>C
|
|
|
|
NM_001849.4(COL6A2):c.1770G>T (p.Thr590=)
|
|
|
|
NM_001849.4(COL6A2):c.1771-12T>C
|
|
|
|
NM_001849.4(COL6A2):c.1771-16G>A
|
|
|
|
NM_001849.4(COL6A2):c.1771-19C>T
|
|
|
|
NM_001849.4(COL6A2):c.1771-20G>C
|
|
|
|
NM_001849.4(COL6A2):c.1771-9G>A
|
|
|
|
NM_001849.4(COL6A2):c.1784T>A (p.Met595Lys)
|
|
|
|
NM_001849.4(COL6A2):c.1788C>T (p.Thr596=)
|
|
|
|
NM_001849.4(COL6A2):c.1797G>A (p.Arg599=)
|
rs370858447
|
|
|
NM_001849.4(COL6A2):c.179A>C (p.Gln60Pro)
|
rs147892526
|
|
|
NM_001849.4(COL6A2):c.1816+11G>A
|
|
|
|
NM_001849.4(COL6A2):c.1816+12C>T
|
|
|
|
NM_001849.4(COL6A2):c.1816+17G>A
|
|
|
|
NM_001849.4(COL6A2):c.1816+18_1816+30del
|
|
|
|
NM_001849.4(COL6A2):c.1816+18del
|
rs150275851
|
|
|
NM_001849.4(COL6A2):c.1816+19_1816+28del
|
|
|
|
NM_001849.4(COL6A2):c.1816+20A>C
|
|
|
|
NM_001849.4(COL6A2):c.1816+3G>A
|
|
|
|
NM_001849.4(COL6A2):c.1816+6G>A
|
|
|
|
NM_001849.4(COL6A2):c.1816+9C>A
|
rs1456625954
|
|
|
NM_001849.4(COL6A2):c.1816G>A (p.Asp606Asn)
|
rs747602311
|
|
|
NM_001849.4(COL6A2):c.1817-16C>G
|
|
|
|
NM_001849.4(COL6A2):c.1817-18A>C
|
|
|
|
NM_001849.4(COL6A2):c.1817-19G>A
|
rs2123661488
|
|
|
NM_001849.4(COL6A2):c.1817-2A>G
|
rs111697581
|
|
|
NM_001849.4(COL6A2):c.1817-2dup
|
|
|
|
NM_001849.4(COL6A2):c.1817-3C>A
|
rs112645828
|
|
|
NM_001849.4(COL6A2):c.1817-3C>T
|
rs112645828
|
|
|
NM_001849.4(COL6A2):c.1817-3_1817-2del
|
rs1491048605
|
|
|
NM_001849.4(COL6A2):c.1817-3del
|
rs149954350
|
|
|
NM_001849.4(COL6A2):c.1817-3dup
|
rs149954350
|
|
|
NM_001849.4(COL6A2):c.1817-4C>A
|
|
|
|
NM_001849.4(COL6A2):c.1817-4C>T
|
rs373659176
|
|
|
NM_001849.4(COL6A2):c.1817-4_1817-3dup
|
rs149954350
|
|
|
NM_001849.4(COL6A2):c.1817-9C>T
|
rs766915366
|
|
|
NM_001849.4(COL6A2):c.1827G>A (p.Lys609=)
|
rs1451931496
|
|
|
NM_001849.4(COL6A2):c.1835G>C (p.Gly612Ala)
|
|
|
|
NM_001849.4(COL6A2):c.1837G>A (p.Ala613Thr)
|
rs146949791
|
|
|
NM_001849.4(COL6A2):c.1838C>G (p.Ala613Gly)
|
|
|
|
NM_001849.4(COL6A2):c.1840C>T (p.Leu614=)
|
|
|
|
NM_001849.4(COL6A2):c.1845C>T (p.Asp615=)
|
rs908989305
|
|
|
NM_001849.4(COL6A2):c.1846G>C (p.Val616Leu)
|
rs746193653
|
|
|
NM_001849.4(COL6A2):c.1846G>T (p.Val616Leu)
|
rs746193653
|
|
|
NM_001849.4(COL6A2):c.1852_1854del (p.Phe618del)
|
|
|
|
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)
|
rs267606750
|
|
|
NM_001849.4(COL6A2):c.1861G>C (p.Asp621His)
|
rs267606750
|
|
|
NM_001849.4(COL6A2):c.1865G>A (p.Ser622Asn)
|
rs2078648587
|
|
|
NM_001849.4(COL6A2):c.1873A>C (p.Ser625Arg)
|
|
|
|
NM_001849.4(COL6A2):c.1876A>G (p.Ile626Val)
|
|
|
|
NM_001849.4(COL6A2):c.1889A>G (p.Asn630Ser)
|
|
|
|
NM_001849.4(COL6A2):c.1902G>A (p.Glu634=)
|
|
|
|
NM_001849.4(COL6A2):c.1906A>T (p.Asn636Tyr)
|
rs2123662036
|
|
|
NM_001849.4(COL6A2):c.1909T>A (p.Phe637Ile)
|
|
|
|
NM_001849.4(COL6A2):c.1912_1914del (p.Val638del)
|
rs1568939674
|
|
|
NM_001849.4(COL6A2):c.1913T>C (p.Val638Ala)
|
rs141919484
|
|
|
NM_001849.4(COL6A2):c.1913T>G (p.Val638Gly)
|
rs141919484
|
|
|
NM_001849.4(COL6A2):c.1917C>T (p.Ile639=)
|
|
|
|
NM_001849.4(COL6A2):c.1929C>T (p.Asn643=)
|
rs1472678084
|
|
|
NM_001849.4(COL6A2):c.1932G>A (p.Arg644=)
|
rs776676512
|
|
|
NM_001849.4(COL6A2):c.1935G>A (p.Leu645=)
|
rs1458485829
|
|
|
NM_001849.4(COL6A2):c.1951G>T (p.Asp651Tyr)
|
|
|
|
NM_001849.4(COL6A2):c.1954C>T (p.Pro652Ser)
|
|
|
|
NM_001849.4(COL6A2):c.1956dup (p.Lys653fs)
|
|
|
|
NM_001849.4(COL6A2):c.1959G>A (p.Lys653=)
|
rs547589437
|
|
|
NM_001849.4(COL6A2):c.1969+10G>T
|
rs201259184
|
|
|
NM_001849.4(COL6A2):c.1969+11C>T
|
|
|
|
NM_001849.4(COL6A2):c.1969+12_1969+17dup
|
rs760398644
|
|
|
NM_001849.4(COL6A2):c.1969+12_1969+38dup
|
|
|
|
NM_001849.4(COL6A2):c.1969+12_1969+48del
|
rs2123662331
|
|
|
NM_001849.4(COL6A2):c.1969+12del
|
|
|
|
NM_001849.4(COL6A2):c.1969+17C>G
|
rs539735984
|
|
|
NM_001849.4(COL6A2):c.1969+19G>A
|
|
|
|
NM_001849.4(COL6A2):c.1969+1G>T
|
|
|
|
NM_001849.4(COL6A2):c.1969+20G>C
|
|
|
|
NM_001849.4(COL6A2):c.1969+20G>T
|
|
|
|
NM_001849.4(COL6A2):c.1969+4A>G
|
rs775997945
|
|
|
NM_001849.4(COL6A2):c.1969+7G>A
|
|
|
|
NM_001849.4(COL6A2):c.1970-12_1970-9dup
|
|
|
|
NM_001849.4(COL6A2):c.1970-14C>G
|
|
|
|
NM_001849.4(COL6A2):c.1970-14C>T
|
rs749228434
|
|
|
NM_001849.4(COL6A2):c.1970-3C>T
|
rs201879417
|
|
|
NM_001849.4(COL6A2):c.1970-4G>T
|
|
|
|
NM_001849.4(COL6A2):c.1971G>A (p.Gly657=)
|
|
|
|
NM_001849.4(COL6A2):c.1975C>T (p.Arg659Cys)
|
rs727502830
|
|
|
NM_001849.4(COL6A2):c.1976G>A (p.Arg659His)
|
|
|
|
NM_001849.4(COL6A2):c.1980G>T (p.Val660=)
|
rs201427728
|
|
|
NM_001849.4(COL6A2):c.1982G>A (p.Gly661Asp)
|
|
|
|
NM_001849.4(COL6A2):c.1983C>T (p.Gly661=)
|
|
|
|
NM_001849.4(COL6A2):c.1984G>A (p.Val662Met)
|
|
|
|
NM_001849.4(COL6A2):c.1987G>A (p.Val663Met)
|
rs2123663062
|
|
|
NM_001849.4(COL6A2):c.1990C>T (p.Gln664Ter)
|
|
|
|
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn)
|
rs786205642
|
|
|
NM_001849.4(COL6A2):c.199C>T (p.Leu67Phe)
|
rs2078406730
|
|
|
NM_001849.4(COL6A2):c.2000A>G (p.His667Arg)
|
rs1245904841
|
|
|
NM_001849.4(COL6A2):c.2002G>T (p.Glu668Ter)
|
rs138948335
|
|
|
NM_001849.4(COL6A2):c.2007C>T (p.Gly669=)
|
rs369568238
|
|
|
NM_001849.4(COL6A2):c.2009C>A (p.Thr670Asn)
|
rs886042884
|
|
|
NM_001849.4(COL6A2):c.2009C>T (p.Thr670Ile)
|
|
|
|
NM_001849.4(COL6A2):c.2011T>C (p.Phe671Leu)
|
|
|
|
NM_001849.4(COL6A2):c.2018C>A (p.Ala673Asp)
|
|
|
|
NM_001849.4(COL6A2):c.201C>T (p.Leu67=)
|
rs1601216910
|
|
|
NM_001849.4(COL6A2):c.2022C>T (p.Ile674=)
|
|
|
|
NM_001849.4(COL6A2):c.2023C>T (p.Gln675Ter)
|
rs1293736497
|
|
|
NM_001849.4(COL6A2):c.2032G>A (p.Asp678Asn)
|
|
|
|
NM_001849.4(COL6A2):c.2037A>G (p.Glu679=)
|
rs1601249990
|
|
|
NM_001849.4(COL6A2):c.2038C>T (p.Arg680Cys)
|
|
|
|
NM_001849.4(COL6A2):c.2044G>A (p.Asp682Asn)
|
|
|
|
NM_001849.4(COL6A2):c.2044G>C (p.Asp682His)
|
rs376527297
|
|
|
NM_001849.4(COL6A2):c.2047T>C (p.Ser683Pro)
|
|
|
|
NM_001849.4(COL6A2):c.2048C>T (p.Ser683Phe)
|
rs1258904789
|
|
|
NM_001849.4(COL6A2):c.2054C>G (p.Ser685Trp)
|
rs564873527
|
|
|
NM_001849.4(COL6A2):c.2056A>C (p.Ser686Arg)
|
|
|
|
NM_001849.4(COL6A2):c.205C>T (p.His69Tyr)
|
|
|
|
NM_001849.4(COL6A2):c.2070T>C (p.Ala690=)
|
|
|
|
NM_001849.4(COL6A2):c.2076_2078del (p.Lys692del)
|
rs2078657129
|
|
|
NM_001849.4(COL6A2):c.2079C>A (p.Asn693Lys)
|
|
|
|
NM_001849.4(COL6A2):c.2083G>C (p.Glu695Gln)
|
rs377376395
|
|
|
NM_001849.4(COL6A2):c.2088G>C (p.Trp696Cys)
|
|
|
|
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val)
|
rs1085307668
|
|
|
NM_001849.4(COL6A2):c.2093_2094delinsTA (p.Ala698Val)
|
|
|
|
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp)
|
rs863224861
|
|
|
NM_001849.4(COL6A2):c.2097_2098delinsTA (p.Gly700Ser)
|
rs2123663616
|
|
|
NM_001849.4(COL6A2):c.2098G>A (p.Gly700Ser)
|
rs794727418
|
|
|
NM_001849.4(COL6A2):c.2107A>C (p.Thr703Pro)
|
|
|
|
NM_001849.4(COL6A2):c.2116G>C (p.Ala706Pro)
|
rs794727417
|
|
|
NM_001849.4(COL6A2):c.2120T>C (p.Leu707Pro)
|
rs2123663738
|
|
|
NM_001849.4(COL6A2):c.2124G>A (p.Lys708=)
|
|
|
|
NM_001849.4(COL6A2):c.2125T>C (p.Phe709Leu)
|
|
|
|
NM_001849.4(COL6A2):c.2128G>T (p.Ala710Ser)
|
|
|
|
NM_001849.4(COL6A2):c.2129C>A (p.Ala710Asp)
|
rs1555875708
|
|
|
NM_001849.4(COL6A2):c.2129C>T (p.Ala710Val)
|
rs1555875708
|
|
|
NM_001849.4(COL6A2):c.2132A>T (p.Tyr711Phe)
|
|
|
|
NM_001849.4(COL6A2):c.2133C>A (p.Tyr711Ter)
|
rs531816975
|
|
|
NM_001849.4(COL6A2):c.2134G>T (p.Asp712Tyr)
|
rs375608173
|
|
|
NM_001849.4(COL6A2):c.2138G>A (p.Arg713His)
|
|
|
|
NM_001849.4(COL6A2):c.2141TCA[1] (p.Ile715del)
|
|
|
|
NM_001849.4(COL6A2):c.2148G>A (p.Lys716=)
|
|
|
|
NM_001849.4(COL6A2):c.2151G>A (p.Glu717=)
|
|
|
|
NM_001849.4(COL6A2):c.2153_2154delinsTG (p.Ser718Met)
|
rs2123663867
|
|
|
NM_001849.4(COL6A2):c.2155C>T (p.Arg719Trp)
|
|
|
|
NM_001849.4(COL6A2):c.2156G>A (p.Arg719Gln)
|
|
|
|
NM_001849.4(COL6A2):c.2157G>T (p.Arg719=)
|
|
|
|
NM_001849.4(COL6A2):c.2161C>T (p.Gln721Ter)
|
|
|
|
NM_001849.4(COL6A2):c.2171G>A (p.Arg724His)
|
rs145450812
|
|
|
NM_001849.4(COL6A2):c.2172T>G (p.Arg724=)
|
rs2123663974
|
|
|
NM_001849.4(COL6A2):c.2173G>T (p.Val725Leu)
|
rs1555875749
|
|
|
NM_001849.4(COL6A2):c.2175G>A (p.Val725=)
|
rs2123663986
|
|
|
NM_001849.4(COL6A2):c.2178T>C (p.Phe726=)
|
rs1334569870
|
|
|
NM_001849.4(COL6A2):c.2189T>G (p.Ile730Ser)
|
rs1555875759
|
|
|
NM_001849.4(COL6A2):c.2190C>T (p.Ile730=)
|
|
|
|
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)
|
rs794727419
|
|
|
NM_001849.4(COL6A2):c.21C>T (p.Ser7=)
|
rs760481395
|
|
|
NM_001849.4(COL6A2):c.2207A>G (p.Asp736Gly)
|
rs2078660025
|
|
|
NM_001849.4(COL6A2):c.2208C>T (p.Asp736=)
|
|
|
|
NM_001849.4(COL6A2):c.2209C>A (p.Pro737Thr)
|
rs2123664136
|
|
|
NM_001849.4(COL6A2):c.2212C>T (p.Arg738Trp)
|
rs2123664140
|
|
|
NM_001849.4(COL6A2):c.2213G>A (p.Arg738Gln)
|
|
|
|
NM_001849.4(COL6A2):c.2214G>A (p.Arg738=)
|
|
|
|
NM_001849.4(COL6A2):c.2218G>A (p.Asp740Asn)
|
|
|
|
NM_001849.4(COL6A2):c.221T>C (p.Val74Ala)
|
|
|
|
NM_001849.4(COL6A2):c.2224C>T (p.Leu742Phe)
|
|
|
|
NM_001849.4(COL6A2):c.2226C>T (p.Leu742=)
|
rs775259194
|
|
|
NM_001849.4(COL6A2):c.2230T>C (p.Leu744=)
|
rs962884368
|
|
|
NM_001849.4(COL6A2):c.2233C>A (p.Arg745=)
|
rs140643748
|
|
|
NM_001849.4(COL6A2):c.2236G>A (p.Ala746Thr)
|
|
|
|
NM_001849.4(COL6A2):c.2249G>A (p.Arg750His)
|
|
|
|
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn)
|
rs375884809
|
|
|
NM_001849.4(COL6A2):c.2256C>T (p.Val752=)
|
|
|
|
NM_001849.4(COL6A2):c.2258C>T (p.Thr753Ile)
|
rs886042625
|
|
|
NM_001849.4(COL6A2):c.225G>A (p.Pro75=)
|
|
|
|
NM_001849.4(COL6A2):c.2285T>C (p.Met762Thr)
|
|
|
|
NM_001849.4(COL6A2):c.2286G>A (p.Met762Ile)
|
|
|
|
NM_001849.4(COL6A2):c.2297A>C (p.Lys766Thr)
|
|
|
|
NM_001849.4(COL6A2):c.2301C>G (p.His767Gln)
|
|
|
|
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer)
|
rs2078662535
|
|
|
NM_001849.4(COL6A2):c.2314C>T (p.Leu772Phe)
|
|
|
|
NM_001849.4(COL6A2):c.2315_2322del (p.Leu772fs)
|
|
|
|
NM_001849.4(COL6A2):c.2316C>T (p.Leu772=)
|
|
|
|
NM_001849.4(COL6A2):c.2317T>C (p.Tyr773His)
|
rs2078662932
|
|
|
NM_001849.4(COL6A2):c.2318A>C (p.Tyr773Ser)
|
rs1601251344
|
|
|
NM_001849.4(COL6A2):c.231C>A (p.Phe77Leu)
|
|
|
|
NM_001849.4(COL6A2):c.2327C>T (p.Ala776Val)
|
|
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
|
|
NM_001849.4(COL6A2):c.2334C>A (p.Asp778Glu)
|
rs764165623
|
|
|
NM_001849.4(COL6A2):c.2338C>T (p.Pro780Ser)
|
|
|
|
NM_001849.4(COL6A2):c.2340A>C (p.Pro780=)
|
rs757806161
|
|
|
NM_001849.4(COL6A2):c.2341C>T (p.Gln781Ter)
|
rs2123664803
|
|
|
NM_001849.4(COL6A2):c.2343G>A (p.Gln781=)
|
|
|
|
NM_001849.4(COL6A2):c.2347G>A (p.Val783Met)
|
rs1194893303
|
|
|
NM_001849.4(COL6A2):c.2351G>C (p.Arg784Pro)
|
rs75120695
|
|
|
NM_001849.4(COL6A2):c.2354A>G (p.Asn785Ser)
|
rs746466184
|
|
|
NM_001849.4(COL6A2):c.2360C>T (p.Thr787Met)
|
|
|
|
NM_001849.4(COL6A2):c.2365T>C (p.Phe789Leu)
|
|
|
|
NM_001849.4(COL6A2):c.2367C>G (p.Phe789Leu)
|
|
|
|
NM_001849.4(COL6A2):c.2367C>T (p.Phe789=)
|
rs775201159
|
|
|
NM_001849.4(COL6A2):c.2370C>G (p.Ser790=)
|
|
|
|
NM_001849.4(COL6A2):c.2371G>A (p.Asp791Asn)
|
rs1273249543
|
|
|
NM_001849.4(COL6A2):c.2375T>C (p.Leu792Pro)
|
rs1568940864
|
|
|
NM_001849.4(COL6A2):c.2386_2388del (p.Lys796del)
|
rs747378168
|
|
|
NM_001849.4(COL6A2):c.2388G>T (p.Lys796Asn)
|
rs1312736604
|
|
|
NM_001849.4(COL6A2):c.2404G>A (p.Glu802Lys)
|
|
|
|
NM_001849.4(COL6A2):c.2417G>A (p.Cys806Tyr)
|
rs749043206
|
|
|
NM_001849.4(COL6A2):c.2418C>A (p.Cys806Ter)
|
|
|
|
NM_001849.4(COL6A2):c.2422+17G>A
|
|
|
|
NM_001849.4(COL6A2):c.2422+7G>A
|
rs773282809
|
|
|
NM_001849.4(COL6A2):c.2422+8T>C
|
rs1220569382
|
|
|
NM_001849.4(COL6A2):c.2423-11CT[2]
|
rs756221937
|
|
|
NM_001849.4(COL6A2):c.2423-12C>T
|
|
|
|
NM_001849.4(COL6A2):c.2423-17T>C
|
|
|
|
NM_001849.4(COL6A2):c.2423-18CT[2]
|
rs2123666734
|
|
|
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCCTCTCTCC
|
|
|
|
NM_001849.4(COL6A2):c.2423-19C>T
|
|
|
|
NM_001849.4(COL6A2):c.2423-3C>T
|
|
|
|
NM_001849.4(COL6A2):c.2426C>T (p.Pro809Leu)
|
|
|
|
NM_001849.4(COL6A2):c.2445C>T (p.Asp815=)
|
rs2078672055
|
|
|
NM_001849.4(COL6A2):c.2451C>G (p.Pro817=)
|
rs2123667105
|
|
|
NM_001849.4(COL6A2):c.2452T>C (p.Cys818Arg)
|
|
|
|
NM_001849.4(COL6A2):c.2459C>G (p.Thr820Arg)
|
|
|
|
NM_001849.4(COL6A2):c.2461+11G>C
|
|
|
|
NM_001849.4(COL6A2):c.2461+15C>T
|
rs1057002808
|
|
|
NM_001849.4(COL6A2):c.2461+9G>A
|
rs2078672583
|
|
|
NM_001849.4(COL6A2):c.2462-20G>C
|
|
|
|
NM_001849.4(COL6A2):c.2462-20G>T
|
|
|
|
NM_001849.4(COL6A2):c.2462-3C>T
|
rs766469768
|
|
|
NM_001849.4(COL6A2):c.2462-5dup
|
rs797044699
|
|
|
NM_001849.4(COL6A2):c.2462-8C>T
|
rs1419954494
|
|
|
NM_001849.4(COL6A2):c.2467T>A (p.Ser823Thr)
|
|
|
|
NM_001849.4(COL6A2):c.2471T>C (p.Val824Ala)
|
rs1259128571
|
|
|
NM_001849.4(COL6A2):c.2472G>A (p.Val824=)
|
rs1484313723
|
|
|
NM_001849.4(COL6A2):c.2473G>A (p.Ala825Thr)
|
rs778134390
|
|
|
NM_001849.4(COL6A2):c.2476C>T (p.Gln826Ter)
|
rs2123454401
|
|
|
NM_001849.4(COL6A2):c.2477A>C (p.Gln826Pro)
|
rs2078765932
|
|
|
NM_001849.4(COL6A2):c.2477A>G (p.Gln826Arg)
|
rs2078765932
|
|
|
NM_001849.4(COL6A2):c.2485C>G (p.Gln829Glu)
|
|
|
|
NM_001849.4(COL6A2):c.2500A>G (p.Ile834Val)
|
|
|
|
NM_001849.4(COL6A2):c.2500_2501del (p.Ile834fs)
|
rs2123454477
|
|
|
NM_001849.4(COL6A2):c.2502C>A (p.Ile834=)
|
rs369040271
|
|
|
NM_001849.4(COL6A2):c.2502C>T (p.Ile834=)
|
rs369040271
|
|
|
NM_001849.4(COL6A2):c.2504T>C (p.Val835Ala)
|
|
|
|
NM_001849.4(COL6A2):c.2512C>T (p.Leu838=)
|
|
|
|
NM_001849.4(COL6A2):c.2513T>C (p.Leu838Pro)
|
rs1568947214
|
|
|
NM_001849.4(COL6A2):c.2532G>A (p.Leu844=)
|
|
|
|
NM_001849.4(COL6A2):c.2535T>C (p.Gly845=)
|
rs748054346
|
|
|
NM_001849.4(COL6A2):c.2545T>G (p.Phe849Val)
|
rs2078767000
|
|
|
NM_001849.4(COL6A2):c.2549A>G (p.His850Arg)
|
|
|
|
NM_001849.4(COL6A2):c.2557C>G (p.Arg853Gly)
|
rs759689002
|
|
|
NM_001849.4(COL6A2):c.2560_2569dup (p.Glu857fs)
|
rs2123454645
|
|
|
NM_001849.4(COL6A2):c.2567T>C (p.Val856Ala)
|
rs886044689
|
|
|
NM_001849.4(COL6A2):c.2568G>A (p.Val856=)
|
rs2123454687
|
|
|
NM_001849.4(COL6A2):c.2570_2581dup (p.Ala860_Arg861insGlnGlnValAla)
|
rs753952104
|
|
|
NM_001849.4(COL6A2):c.2571G>A (p.Glu857=)
|
|
|
|
NM_001849.4(COL6A2):c.2572C>T (p.Gln858Ter)
|
rs1555877252
|
|
|
NM_001849.4(COL6A2):c.2579C>T (p.Ala860Val)
|
|
|
|
NM_001849.4(COL6A2):c.2580G>T (p.Ala860=)
|
|
|
|
NM_001849.4(COL6A2):c.2584C>A (p.Arg862=)
|
|
|
|
NM_001849.4(COL6A2):c.2586G>A (p.Arg862=)
|
|
|
|
NM_001849.4(COL6A2):c.2586dup (p.Leu863fs)
|
rs2123454751
|
|
|
NM_001849.4(COL6A2):c.2591C>A (p.Thr864Lys)
|
rs200488881
|
|
|
NM_001849.4(COL6A2):c.2599C>A (p.Arg867=)
|
rs144484744
|
|
|
NM_001849.4(COL6A2):c.2600G>A (p.Arg867Gln)
|
rs61735831
|
|
|
NM_001849.4(COL6A2):c.2603G>A (p.Arg868Lys)
|
rs865872231
|
|
|
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn)
|
rs141021828
|
|
|
NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr)
|
rs141021828
|
|
|
NM_001849.4(COL6A2):c.2609A>G (p.Asp870Gly)
|
|
|
|
NM_001849.4(COL6A2):c.2613C>T (p.Asp871=)
|
rs147044688
|
|
|
NM_001849.4(COL6A2):c.2629G>A (p.Val877Met)
|
rs369396198
|
|
|
NM_001849.4(COL6A2):c.262G>A (p.Asp88Asn)
|
|
|
|
NM_001849.4(COL6A2):c.2631G>A (p.Val877=)
|
|
|
|
NM_001849.4(COL6A2):c.2637G>C (p.Leu879=)
|
rs1339393899
|
|
|
NM_001849.4(COL6A2):c.2637G>T (p.Leu879=)
|
|
|
|
NM_001849.4(COL6A2):c.2638C>A (p.Leu880Met)
|
|
|
|
NM_001849.4(COL6A2):c.263A>G (p.Asp88Gly)
|
|
|
|
NM_001849.4(COL6A2):c.2643G>A (p.Gln881=)
|
rs908318849
|
|
|
NM_001849.4(COL6A2):c.2645T>G (p.Phe882Cys)
|
|
|
|
NM_001849.4(COL6A2):c.2663_2664dup (p.Gln889fs)
|
rs2123455043
|
|
|
NM_001849.4(COL6A2):c.2666A>G (p.Gln889Arg)
|
|
|
|
NM_001849.4(COL6A2):c.266A>G (p.Gln89Arg)
|
rs770956606
|
|
|
NM_001849.4(COL6A2):c.2670G>A (p.Val890=)
|
|
|
|
NM_001849.4(COL6A2):c.2675T>A (p.Phe892Tyr)
|
|
|
|
NM_001849.4(COL6A2):c.267G>A (p.Gln89=)
|
|
|
|
NM_001849.4(COL6A2):c.267G>C (p.Gln89His)
|
rs1452398707
|
|
|
NM_001849.4(COL6A2):c.2684G>A (p.Ser895Asn)
|
rs112139050
|
|
|
NM_001849.4(COL6A2):c.2689_2691del (p.Asn897del)
|
|
|
|
NM_001849.4(COL6A2):c.268G>A (p.Val90Met)
|
|
|
|
NM_001849.4(COL6A2):c.2697G>A (p.Thr899=)
|
rs11554669
|
|
|
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=)
|
rs11554669
|
|
|
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)
|
rs11554669
|
|
|
NM_001849.4(COL6A2):c.2706C>T (p.His902=)
|
|
|
|
NM_001849.4(COL6A2):c.2710G>A (p.Ala904Thr)
|
|
|
|
NM_001849.4(COL6A2):c.2718G>A (p.Glu906=)
|
|
|
|
NM_001849.4(COL6A2):c.2726A>C (p.Gln909Pro)
|
|
|
|
NM_001849.4(COL6A2):c.2730C>A (p.Tyr910Ter)
|
|
|
|
NM_001849.4(COL6A2):c.2738_2740del (p.Ser913del)
|
rs777696289
|
|
|
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del)
|
rs746930351
|
|
|
NM_001849.4(COL6A2):c.2743T>C (p.Ser915Pro)
|
rs1290912034
|
|
|
NM_001849.4(COL6A2):c.2744C>T (p.Ser915Leu)
|
|
|
|
NM_001849.4(COL6A2):c.2746C>T (p.His916Tyr)
|
rs2123455277
|
|
|
NM_001849.4(COL6A2):c.2750T>C (p.Val917Ala)
|
|
|
|
NM_001849.4(COL6A2):c.2751G>A (p.Val917=)
|
rs111341650
|
|
|
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu)
|
rs398123650
|
|
|
NM_001849.4(COL6A2):c.2764G>C (p.Val922Leu)
|
|
|
|
NM_001849.4(COL6A2):c.2768A>G (p.His923Arg)
|
rs2123455354
|
|
|
NM_001849.4(COL6A2):c.2769C>A (p.His923Gln)
|
rs140419176
|
|
|
NM_001849.4(COL6A2):c.2769C>G (p.His923Gln)
|
rs140419176
|
|
|
NM_001849.4(COL6A2):c.2782A>C (p.Ile928Leu)
|
rs1426096612
|
|
|
NM_001849.4(COL6A2):c.2793_2821del (p.Ser931fs)
|
rs745716104
|
|
|
NM_001849.4(COL6A2):c.2797C>G (p.Arg933Gly)
|
|
|
|
NM_001849.4(COL6A2):c.2797C>T (p.Arg933Cys)
|
rs1321329142
|
|
|
NM_001849.4(COL6A2):c.2798G>T (p.Arg933Leu)
|
rs374384263
|
|
|
NM_001849.4(COL6A2):c.27C>T (p.Leu9=)
|
|
|
|
NM_001849.4(COL6A2):c.2811G>A (p.Arg937=)
|
rs200652329
|
|
|
NM_001849.4(COL6A2):c.2818G>A (p.Ala940Thr)
|
|
|
|
NM_001849.4(COL6A2):c.2820A>G (p.Ala940=)
|
rs769894173
|
|
|
NM_001849.4(COL6A2):c.2826G>A (p.Leu942=)
|
rs768497480
|
|
|
NM_001849.4(COL6A2):c.2826G>C (p.Leu942=)
|
rs768497480
|
|
|
NM_001849.4(COL6A2):c.2828C>T (p.Ser943Phe)
|
|
|
|
NM_001849.4(COL6A2):c.2832_2927del (p.Phe944_Ala975del)
|
rs2123455541
|
|
|
NM_001849.4(COL6A2):c.2834T>A (p.Val945Glu)
|
rs2123455553
|
|
|
NM_001849.4(COL6A2):c.2843C>G (p.Thr948Arg)
|
rs367980010
|
|
|
NM_001849.4(COL6A2):c.2846_2857dup (p.Asp949_Thr952dup)
|
rs775193167
|
|
|
NM_001849.4(COL6A2):c.2851G>A (p.Val951Ile)
|
rs111630733
|
|
|
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe)
|
rs111630733
|
|
|
NM_001849.4(COL6A2):c.2855C>G (p.Thr952Arg)
|
rs147670858
|
|
|
NM_001849.4(COL6A2):c.2855C>T (p.Thr952Met)
|
rs147670858
|
|
|
NM_001849.4(COL6A2):c.2856G>C (p.Thr952=)
|
rs138074469
|
|
|
NM_001849.4(COL6A2):c.2858G>A (p.Gly953Asp)
|
|
|
|
NM_001849.4(COL6A2):c.2865_2866del (p.Asp955fs)
|
|
|
|
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=)
|
rs548194162
|
|
|
NM_001849.4(COL6A2):c.2871G>C (p.Leu957=)
|
rs548194162
|
|
|
NM_001849.4(COL6A2):c.2873A>C (p.His958Pro)
|
|
|
|
NM_001849.4(COL6A2):c.2874C>G (p.His958Gln)
|
|
|
|
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys)
|
rs150168522
|
|
|
NM_001849.4(COL6A2):c.2875G>C (p.Glu959Gln)
|
rs150168522
|
|
|
NM_001849.4(COL6A2):c.2877G>T (p.Glu959Asp)
|
rs1274304291
|
|
|
NM_001849.4(COL6A2):c.2878T>C (p.Ser960Pro)
|
rs2123455695
|
|
|
NM_001849.4(COL6A2):c.2880G>T (p.Ser960=)
|
|
|
|
NM_001849.4(COL6A2):c.2884C>A (p.His962Asn)
|
rs373184224
|
|
|
NM_001849.4(COL6A2):c.2887T>G (p.Ser963Ala)
|
rs771847588
|
|
|
NM_001849.4(COL6A2):c.288C>A (p.Tyr96Ter)
|
rs61735833
|
|
|
NM_001849.4(COL6A2):c.2893C>A (p.Arg965Ser)
|
rs201188174
|
|
|
NM_001849.4(COL6A2):c.2894G>A (p.Arg965His)
|
|
|
|
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
|
rs201854898
|
|
|
NM_001849.4(COL6A2):c.2902_2934dup (p.Asn968_Ser978dup)
|
rs1568948073
|
|
|
NM_001849.4(COL6A2):c.2905G>A (p.Val969Met)
|
rs763443381
|
|
|
NM_001849.4(COL6A2):c.2905G>C (p.Val969Leu)
|
rs763443381
|
|
|
NM_001849.4(COL6A2):c.2908G>A (p.Val970Ile)
|
|
|
|
NM_001849.4(COL6A2):c.2914A>C (p.Thr972Pro)
|
rs754429992
|
|
|
NM_001849.4(COL6A2):c.2916C>T (p.Thr972=)
|
|
|
|
NM_001849.4(COL6A2):c.2917G>T (p.Val973Leu)
|
rs145959270
|
|
|
NM_001849.4(COL6A2):c.291C>T (p.Gly97=)
|
rs1007921670
|
|
|
NM_001849.4(COL6A2):c.2925C>G (p.Ala975=)
|
rs2078774154
|
|
|
NM_001849.4(COL6A2):c.2928G>A (p.Leu976=)
|
|
|
|
NM_001849.4(COL6A2):c.2932A>T (p.Ser978Cys)
|
|
|
|
NM_001849.4(COL6A2):c.2940G>A (p.Val980=)
|
rs886044694
|
|
|
NM_001849.4(COL6A2):c.2943C>T (p.Asp981=)
|
|
|
|
NM_001849.4(COL6A2):c.2950_2958dup (p.Val984_Thr986dup)
|
rs762259160
|
|
|
NM_001849.4(COL6A2):c.2961G>T (p.Thr987=)
|
rs149845431
|
|
|
NM_001849.4(COL6A2):c.2962C>G (p.Leu988Val)
|
rs781544781
|
|
|
NM_001849.4(COL6A2):c.2971G>A (p.Gly991Ser)
|
|
|
|
NM_001849.4(COL6A2):c.2972G>A (p.Gly991Asp)
|
|
|
|
NM_001849.4(COL6A2):c.2972G>T (p.Gly991Val)
|
|
|
|
NM_001849.4(COL6A2):c.2977C>G (p.Arg993Gly)
|
|
|
|
NM_001849.4(COL6A2):c.2978_2979delinsAT (p.Arg993His)
|
rs2123456038
|
|
|
NM_001849.4(COL6A2):c.2979C>G (p.Arg993=)
|
rs6652
|
|
|
NM_001849.4(COL6A2):c.2988G>T (p.Val996=)
|
|
|
|
NM_001849.4(COL6A2):c.2988dup (p.Phe997fs)
|
rs1555877364
|
|
|
NM_001849.4(COL6A2):c.298C>T (p.His100Tyr)
|
|
|
|
NM_001849.4(COL6A2):c.2991C>A (p.Phe997Leu)
|
rs1555877365
|
|
|
NM_001849.4(COL6A2):c.2991C>T (p.Phe997=)
|
rs1555877365
|
|
|
NM_001849.4(COL6A2):c.2995G>T (p.Glu999Ter)
|
rs142296092
|
|
|
NM_001849.4(COL6A2):c.2997G>A (p.Glu999=)
|
rs751494076
|
|
|
NM_001849.4(COL6A2):c.2998_3000del (p.Lys1000del)
|
rs750794022
|
|
|
NM_001849.4(COL6A2):c.29T>G (p.Leu10Arg)
|
|
|
|
NM_001849.4(COL6A2):c.3006_3007insTC (p.Asp1003fs)
|
|
|
|
NM_001849.4(COL6A2):c.3007G>A (p.Asp1003Asn)
|
rs1601270126
|
|
|
NM_001849.4(COL6A2):c.300C>G (p.His100Gln)
|
rs765941470
|
|
|
NM_001849.4(COL6A2):c.300C>T (p.His100=)
|
rs765941470
|
|
|
NM_001849.4(COL6A2):c.3013C>T (p.Leu1005=)
|
rs2123456173
|
|
|
NM_001849.4(COL6A2):c.3016G>C (p.Ala1006Pro)
|
|
|
|
NM_001849.4(COL6A2):c.3029T>C (p.Phe1010Ser)
|
|
|
|
NM_001849.4(COL6A2):c.3031_3042del (p.Phe1011_Phe1014del)
|
rs2078776370
|
|
|
NM_001849.4(COL6A2):c.3033C>T (p.Phe1011=)
|
|
|
|
NM_001849.4(COL6A2):c.3037C>T (p.Arg1013Cys)
|
rs762516507
|
|
|
NM_001849.4(COL6A2):c.3044T>C (p.Ile1015Thr)
|
|
|
|
NM_001849.4(COL6A2):c.3051G>C (p.Trp1017Cys)
|
rs2078776827
|
|
|
NM_001849.4(COL6A2):c.3053T>C (p.Ile1018Thr)
|
|
|
|
NM_001849.4(COL6A2):c.3059_*12dup (p.Ter1020_Ter(1020_?)(?))
|
|
|
|
NM_001849.4(COL6A2):c.312G>A (p.Gln104=)
|
|
|
|
NM_001849.4(COL6A2):c.320T>C (p.Val107Ala)
|
|
|
|
NM_001849.4(COL6A2):c.334G>T (p.Gly112Cys)
|
|
|
|
NM_001849.4(COL6A2):c.339C>A (p.Ser113Arg)
|
rs1365013453
|
|
|
NM_001849.4(COL6A2):c.345G>A (p.Arg115=)
|
rs138007666
|
|
|
NM_001849.4(COL6A2):c.391G>A (p.Gly131Ser)
|
rs561771249
|
|
|
NM_001849.4(COL6A2):c.393C>T (p.Gly131=)
|
|
|
|
NM_001849.4(COL6A2):c.396C>T (p.Thr132=)
|
|
|
|
NM_001849.4(COL6A2):c.399C>T (p.Phe133=)
|
rs547695695
|
|
|
NM_001849.4(COL6A2):c.3G>A (p.Met1Ile)
|
rs2078397134
|
|
|
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn)
|
rs983938730
|
|
|
NM_001849.4(COL6A2):c.409G>A (p.Ala137Thr)
|
rs982087527
|
|
|
NM_001849.4(COL6A2):c.416C>G (p.Ala139Gly)
|
rs749711324
|
|
|
NM_001849.4(COL6A2):c.422T>C (p.Met141Thr)
|
rs1568925911
|
|
|
NM_001849.4(COL6A2):c.425C>G (p.Thr142Arg)
|
|
|
|
NM_001849.4(COL6A2):c.425C>T (p.Thr142Met)
|
rs866311790
|
|
|
NM_001849.4(COL6A2):c.430C>T (p.Gln144Ter)
|
|
|
|
NM_001849.4(COL6A2):c.437G>A (p.Arg146Gln)
|
|
|
|
NM_001849.4(COL6A2):c.453G>C (p.Lys151Asn)
|
|
|
|
NM_001849.4(COL6A2):c.463C>T (p.His155Tyr)
|
|
|
|
NM_001849.4(COL6A2):c.484G>A (p.Asp162Asn)
|
rs1216448596
|
|
|
NM_001849.4(COL6A2):c.485_499del (p.Asp162_Thr166del)
|
rs2078413886
|
|
|
NM_001849.4(COL6A2):c.486C>T (p.Asp162=)
|
|
|
|
NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys)
|
|
|
|
NM_001849.4(COL6A2):c.513G>A (p.Gly171=)
|
rs1291272464
|
|
|
NM_001849.4(COL6A2):c.514G>A (p.Gly172Ser)
|
|
|
|
NM_001849.4(COL6A2):c.520_555del (p.Lys174_Ile185del)
|
|
|
|
NM_001849.4(COL6A2):c.543_735+396del
|
rs2078415602
|
|
|
NM_001849.4(COL6A2):c.557G>T (p.Arg186Leu)
|
rs376291264
|
|
|
NM_001849.4(COL6A2):c.564C>T (p.Phe188=)
|
|
|
|
NM_001849.4(COL6A2):c.565G>T (p.Ala189Ser)
|
rs765361834
|
|
|
NM_001849.4(COL6A2):c.582G>C (p.Gln194His)
|
rs1601218622
|
|
|
NM_001849.4(COL6A2):c.586C>T (p.Leu196=)
|
rs1222208626
|
|
|
NM_001849.4(COL6A2):c.588G>A (p.Leu196=)
|
|
|
|
NM_001849.4(COL6A2):c.58G>A (p.Ala20Thr)
|
rs2078398153
|
|
|
NM_001849.4(COL6A2):c.604C>T (p.Arg202Trp)
|
|
|
|
NM_001849.4(COL6A2):c.607G>A (p.Asp203Asn)
|
|
|
|
NM_001849.4(COL6A2):c.610A>G (p.Ile204Val)
|
|
|
|
NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg)
|
rs760395633
|
|
|
NM_001849.4(COL6A2):c.620C>T (p.Thr207Met)
|
rs760395633
|
|
|
NM_001849.4(COL6A2):c.626A>T (p.His209Leu)
|
rs1413478268
|
|
|
NM_001849.4(COL6A2):c.627C>G (p.His209Gln)
|
rs545218705
|
|
|
NM_001849.4(COL6A2):c.627C>T (p.His209=)
|
rs545218705
|
|
|
NM_001849.4(COL6A2):c.641_645del (p.Asn214fs)
|
rs1375040481
|
|
|
NM_001849.4(COL6A2):c.643G>A (p.Asp215Asn)
|
rs563449281
|
|
|
NM_001849.4(COL6A2):c.653C>T (p.Thr218Ile)
|
|
|
|
NM_001849.4(COL6A2):c.658C>A (p.Leu220Met)
|
rs773058625
|
|
|
NM_001849.4(COL6A2):c.659T>C (p.Leu220Pro)
|
rs1208218678
|
|
|
NM_001849.4(COL6A2):c.662C>T (p.Pro221Leu)
|
|
|
|
NM_001849.4(COL6A2):c.668C>T (p.Ser223Phe)
|
rs2078418524
|
|
|
NM_001849.4(COL6A2):c.670A>G (p.Thr224Ala)
|
|
|
|
NM_001849.4(COL6A2):c.675_680del (p.Glu225_Ile226del)
|
rs775693562
|
|
|
NM_001849.4(COL6A2):c.676A>G (p.Ile226Val)
|
|
|
|
NM_001849.4(COL6A2):c.678C>T (p.Ile226=)
|
|
|
|
NM_001849.4(COL6A2):c.679G>C (p.Asp227His)
|
rs35881321
|
|
|
NM_001849.4(COL6A2):c.702C>T (p.Ile234=)
|
rs1369161493
|
|
|
NM_001849.4(COL6A2):c.708G>A (p.Lys236=)
|
|
|
|
NM_001849.4(COL6A2):c.714+18G>A
|
|
|
|
NM_001849.4(COL6A2):c.714+1G>C
|
rs2078419667
|
|
|
NM_001849.4(COL6A2):c.714+8G>A
|
rs1489436620
|
|
|
NM_001849.4(COL6A2):c.714+8G>T
|
|
|
|
NM_001849.4(COL6A2):c.715-14T>C
|
|
|
|
NM_001849.4(COL6A2):c.715-18T>C
|
|
|
|
NM_001849.4(COL6A2):c.721G>A (p.Glu241Lys)
|
|
|
|
NM_001849.4(COL6A2):c.734A>G (p.Glu245Gly)
|
|
|
|
NM_001849.4(COL6A2):c.735+6T>C
|
rs2078423797
|
|
|
NM_001849.4(COL6A2):c.735+9_784del
|
|
|
|
NM_001849.4(COL6A2):c.736-1G>A
|
rs1601221868
|
|
|
NM_001849.4(COL6A2):c.736-1G>C
|
rs1601221868
|
|
|
NM_001849.4(COL6A2):c.736-2A>G
|
rs1057518925
|
|
|
NM_001849.4(COL6A2):c.736-8C>T
|
|
|
|
NM_001849.4(COL6A2):c.73G>A (p.Val25Ile)
|
rs2123612816
|
|
|
NM_001849.4(COL6A2):c.742A>G (p.Lys248Glu)
|
|
|
|
NM_001849.4(COL6A2):c.745G>A (p.Val249Met)
|
rs1454103225
|
|
|
NM_001849.4(COL6A2):c.757G>A (p.Glu253Lys)
|
|
|
|
NM_001849.4(COL6A2):c.759A>C (p.Glu253Asp)
|
|
|
|
NM_001849.4(COL6A2):c.75C>T (p.Val25=)
|
rs2078398447
|
|
|
NM_001849.4(COL6A2):c.770C>T (p.Pro257Leu)
|
|
|
|
NM_001849.4(COL6A2):c.780C>T (p.Pro260=)
|
rs1021304559
|
|
|
NM_001849.4(COL6A2):c.784G>T (p.Gly262Cys)
|
rs2123620765
|
|
|
NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp)
|
rs886042943
|
|
|
NM_001849.4(COL6A2):c.785G>T (p.Gly262Val)
|
rs886042943
|
|
|
NM_001849.4(COL6A2):c.794G>A (p.Gly265Glu)
|
rs2078438903
|
|
|
NM_001849.4(COL6A2):c.799A>C (p.Lys267Gln)
|
rs753370790
|
|
|
NM_001849.4(COL6A2):c.801+1G>A
|
rs794727715
|
|
|
NM_001849.4(COL6A2):c.801+1G>T
|
rs794727715
|
|
|
NM_001849.4(COL6A2):c.801+2T>G
|
|
|
|
NM_001849.4(COL6A2):c.801+2dup
|
rs2123620848
|
|
|
NM_001849.4(COL6A2):c.801G>A (p.Lys267=)
|
rs2078439012
|
|
|
NM_001849.4(COL6A2):c.802-2A>G
|
rs886044399
|
|
|
NM_001849.4(COL6A2):c.802-9T>C
|
|
|
|
NM_001849.4(COL6A2):c.802G>A (p.Gly268Ser)
|
rs2123625485
|
|
|
NM_001849.4(COL6A2):c.802G>C (p.Gly268Arg)
|
rs2123625485
|
|
|
NM_001849.4(COL6A2):c.803G>T (p.Gly268Val)
|
rs397515333
|
|
|
NM_001849.4(COL6A2):c.811G>A (p.Gly271Ser)
|
rs121912940
|
|
|
NM_001849.4(COL6A2):c.812G>T (p.Gly271Val)
|
rs794727788
|
|
|
NM_001849.4(COL6A2):c.820G>A (p.Gly274Ser)
|
rs2078462673
|
|
|
NM_001849.4(COL6A2):c.821G>A (p.Gly274Asp)
|
rs2123625569
|
|
|
NM_001849.4(COL6A2):c.823G>A (p.Glu275Lys)
|
|
|
|
NM_001849.4(COL6A2):c.826C>T (p.Pro276Ser)
|
|
|
|
NM_001849.4(COL6A2):c.82C>T (p.Pro28Ser)
|
|
|
|
NM_001849.4(COL6A2):c.830del (p.Gly277fs)
|
rs1555872819
|
|
|
NM_001849.4(COL6A2):c.837T>A (p.Pro279=)
|
|
|
|
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg)
|
rs886043323
|
|
|
NM_001849.4(COL6A2):c.839G>A (p.Gly280Asp)
|
rs1568928804
|
|
|
NM_001849.4(COL6A2):c.83C>G (p.Pro28Arg)
|
rs778546141
|
|
|
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg)
|
rs267606748
|
|
|
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)
|
rs886044088
|
|
|
NM_001849.4(COL6A2):c.848G>T (p.Gly283Val)
|
rs886044088
|
|
|
NM_001849.4(COL6A2):c.852A>G (p.Arg284=)
|
|
|
|
NM_001849.4(COL6A2):c.855+16C>T
|
|
|
|
NM_001849.4(COL6A2):c.855+1G>A
|
rs1057517988
|
|
|
NM_001849.4(COL6A2):c.855+1G>C
|
rs1057517988
|
|
|
NM_001849.4(COL6A2):c.855+4_855+7del
|
rs2123625716
|
|
|
NM_001849.4(COL6A2):c.856-15C>T
|
|
|
|
NM_001849.4(COL6A2):c.856-1G>T
|
|
|
|
NM_001849.4(COL6A2):c.856-24_856-10del
|
|
|
|
NM_001849.4(COL6A2):c.856-2A>G
|
rs886044466
|
|
|
NM_001849.4(COL6A2):c.856-9C>T
|
|
|
|
NM_001849.4(COL6A2):c.856G>A (p.Gly286Arg)
|
rs2123626018
|
|
|
NM_001849.4(COL6A2):c.856G>T (p.Gly286Ter)
|
|
|
|
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu)
|
rs727502827
|
|
|
NM_001849.4(COL6A2):c.866G>T (p.Gly289Val)
|
rs886043554
|
|
|
NM_001849.4(COL6A2):c.869T>A (p.Ile290Asn)
|
|
|
|
NM_001849.4(COL6A2):c.870C>G (p.Ile290Met)
|
|
|
|
NM_001849.4(COL6A2):c.874G>A (p.Gly292Ser)
|
rs727502828
|
|
|
NM_001849.4(COL6A2):c.874G>C (p.Gly292Arg)
|
rs727502828
|
|
|
NM_001849.4(COL6A2):c.875G>A (p.Gly292Asp)
|
|
|
|
NM_001849.4(COL6A2):c.875G>T (p.Gly292Val)
|
rs794727855
|
|
|
NM_001849.4(COL6A2):c.881T>C (p.Ile294Thr)
|
rs1568928972
|
|
|
NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg)
|
rs1555872873
|
|
|
NM_001849.4(COL6A2):c.884G>A (p.Gly295Glu)
|
rs2123626138
|
|
|
NM_001849.4(COL6A2):c.884G>T (p.Gly295Val)
|
rs2123626138
|
|
|
NM_001849.4(COL6A2):c.892G>C (p.Gly298Arg)
|
rs797045478
|
|
|
NM_001849.4(COL6A2):c.896C>A (p.Pro299His)
|
|
|
|
NM_001849.4(COL6A2):c.898A>G (p.Lys300Glu)
|
rs2123626180
|
|
|
NM_001849.4(COL6A2):c.900+1G>A
|
rs886044261
|
|
|
NM_001849.4(COL6A2):c.900+1G>T
|
|
|
|
NM_001849.4(COL6A2):c.900+5G>A
|
|
|
|
NM_001849.4(COL6A2):c.900G>A (p.Lys300=)
|
|
|
|
NM_001849.4(COL6A2):c.901-10C>T
|
rs754039292
|
|
|
NM_001849.4(COL6A2):c.901-11_901-9del
|
|
|
|
NM_001849.4(COL6A2):c.901-20C>T
|
|
|
|
NM_001849.4(COL6A2):c.901-20CT[2]
|
rs563354608
|
|
|
NM_001849.4(COL6A2):c.901-6_903del
|
rs2123627113
|
|
|
NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser)
|
rs886042705
|
|
|
NM_001849.4(COL6A2):c.902G>A (p.Gly301Asp)
|
rs1555872965
|
|
|
NM_001849.4(COL6A2):c.902G>T (p.Gly301Val)
|
rs1555872965
|
|
|
NM_001849.4(COL6A2):c.911G>T (p.Gly304Val)
|
rs727502832
|
|
|
NM_001849.4(COL6A2):c.913T>C (p.Phe305Leu)
|
rs1472672400
|
|
|
NM_001849.4(COL6A2):c.927+12G>T
|
|
|
|
NM_001849.4(COL6A2):c.927+14C>T
|
|
|
|
NM_001849.4(COL6A2):c.927+16T>C
|
rs2123627287
|
|
|
NM_001849.4(COL6A2):c.927+5G>A
|
|
|
|
NM_001849.4(COL6A2):c.927+5G>C
|
|
|
|
NM_001849.4(COL6A2):c.927+9_927+21del
|
rs2123627262
|
|
|
NM_001849.4(COL6A2):c.928-11C>T
|
|
|
|
NM_001849.4(COL6A2):c.928-11del
|
rs2123628057
|
|
|
NM_001849.4(COL6A2):c.928-18G>A
|
|
|
|
NM_001849.4(COL6A2):c.936T>C (p.Phe312=)
|
|
|
|
NM_001849.4(COL6A2):c.948T>C (p.Gly316=)
|
rs764665426
|
|
|
NM_001849.4(COL6A2):c.954+14G>A
|
rs2123628304
|
|
|
NM_001849.4(COL6A2):c.954+1G>C
|
rs2123628251
|
|
|
NM_001849.4(COL6A2):c.954+3A>G
|
rs2123628260
|
|
|
NM_001849.4(COL6A2):c.954+8G>A
|
rs1377719373
|
|
|
NM_001849.4(COL6A2):c.954G>A (p.Lys318=)
|
rs878854362
|
|
|
NM_001849.4(COL6A2):c.954G>C (p.Lys318Asn)
|
rs878854362
|
|
|
NM_001849.4(COL6A2):c.955-15T>G
|
|
|
|
NM_001849.4(COL6A2):c.955-19C>T
|
|
|
|
NM_001849.4(COL6A2):c.955-1G>A
|
rs886044265
|
|
|
NM_001849.4(COL6A2):c.955-1G>C
|
rs886044265
|
|
|
NM_001849.4(COL6A2):c.955-2del
|
rs2078477419
|
|
|
NM_001849.4(COL6A2):c.955-3_955-1delinsAA
|
rs1568929639
|
|
|
NM_001849.4(COL6A2):c.959C>T (p.Ala320Val)
|
rs1444127463
|
|
|
NM_001849.4(COL6A2):c.970G>A (p.Ala324Thr)
|
|
|
|
NM_001849.4(COL6A2):c.974G>T (p.Gly325Val)
|
|
|
|
NM_001849.4(COL6A2):c.990T>C (p.Asp330=)
|
|
|
|
NM_001849.4(COL6A2):c.997A>T (p.Lys333Ter)
|
|
|
|
NM_001849.4(COL6A2):c.998del (p.Lys333fs)
|
rs2123628814
|
|
|
NM_001849.4(COL6A2):c.999+12C>T
|
|
|
|
NM_001849.4(COL6A2):c.999+15G>C
|
|
|
|
NM_001849.4(COL6A2):c.999+18C>T
|
|
|
|
NM_001849.4(COL6A2):c.999+6G>A
|
|
|
|
NM_001849.4(COL6A2):c.999+9_1053+32del
|
rs2078478648
|
|
|
NM_001849.4(COL6A2):c.999+9_1053+32delinsGCTGAAGGAGGGGTGCAAACGGCCCTTACCCGGTTTCCAGGGTCTCCCTTGCAGCCTTCA
|
rs2123628848
|
|
|
NM_001927.4(DES):c.1000G>A (p.Glu334Lys)
|
rs1227068284
|
|
|
NM_001927.4(DES):c.1004T>C (p.Ile335Thr)
|
rs1954429245
|
|
|
NM_001927.4(DES):c.1009G>T (p.Ala337Ser)
|
rs59962885
|
|
|
NM_001927.4(DES):c.100G>A (p.Val34Met)
|
|
|
|
NM_001927.4(DES):c.1010C>A (p.Ala337Asp)
|
rs1954429477
|
|
|
NM_001927.4(DES):c.1013T>C (p.Leu338Pro)
|
rs57496341
|
|
|
NM_001927.4(DES):c.1013T>G (p.Leu338Arg)
|
rs57496341
|
|
|
NM_001927.4(DES):c.1013_1014delinsGC (p.Leu338Arg)
|
|
|
|
NM_001927.4(DES):c.1017G>C (p.Lys339Asn)
|
rs1954429823
|
|
|
NM_001927.4(DES):c.1019G>A (p.Gly340Asp)
|
rs1559353118
|
|
|
NM_001927.4(DES):c.1022C>T (p.Thr341Ile)
|
rs1338606921
|
|
|
NM_001927.4(DES):c.1023+10T>C
|
|
|
|
NM_001927.4(DES):c.1023+11G>A
|
|
|
|
NM_001927.4(DES):c.1023+5G>A
|
|
|
|
NM_001927.4(DES):c.1023+6_1023+24dup
|
|
|
|
NM_001927.4(DES):c.1024-10del
|
|
|
|
NM_001927.4(DES):c.1024-11C>T
|
rs566280820
|
|
|
NM_001927.4(DES):c.1024-11dup
|
rs1954436789
|
|
|
NM_001927.4(DES):c.1024-14C>T
|
rs1954436833
|
|
|
NM_001927.4(DES):c.1024-17T>C
|
rs756252550
|
|
|
NM_001927.4(DES):c.1024-17T>G
|
rs756252550
|
|
|
NM_001927.4(DES):c.1024-18G>T
|
rs1272088858
|
|
|
NM_001927.4(DES):c.1024-3C>A
|
rs1553603530
|
|
|
NM_001927.4(DES):c.1024-7C>T
|
rs779098835
|
|
|
NM_001927.4(DES):c.1024A>G (p.Asn342Asp)
|
rs267607482
|
|
|
NM_001927.4(DES):c.1027_1032dup (p.Asp343_Ser344dup)
|
rs1954437523
|
|
|
NM_001927.4(DES):c.1030T>C (p.Ser344Pro)
|
rs886044226
|
|
|
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
|
rs57639980
|
|
|
NM_001927.4(DES):c.1035G>A (p.Leu345=)
|
|
|
|
NM_001927.4(DES):c.103T>C (p.Phe35Leu)
|
|
|
|
NM_001927.4(DES):c.1041G>A (p.Arg347=)
|
rs2125168616
|
|
|
NM_001927.4(DES):c.1043A>C (p.Gln348Pro)
|
rs1411703397
|
|
|
NM_001927.4(DES):c.1043A>T (p.Gln348Leu)
|
rs1411703397
|
|
|
NM_001927.4(DES):c.1045A>G (p.Met349Val)
|
|
|
|
NM_001927.4(DES):c.1049G>C (p.Arg350Pro)
|
rs57965306
|
|
|
NM_001927.4(DES):c.1049G>T (p.Arg350Leu)
|
rs57965306
|
|
|
NM_001927.4(DES):c.104T>C (p.Phe35Ser)
|
rs1575012999
|
|
|
NM_001927.4(DES):c.1059G>A (p.Glu353=)
|
rs1575014856
|
|
|
NM_001927.4(DES):c.105C>G (p.Phe35Leu)
|
rs768166041
|
|
|
NM_001927.4(DES):c.1062C>T (p.Asp354=)
|
|
|
|
NM_001927.4(DES):c.1063C>G (p.Arg355Gly)
|
rs762808690
|
|
|
NM_001927.4(DES):c.1064G>C (p.Arg355Pro)
|
rs61368398
|
|
|
NM_001927.4(DES):c.106C>T (p.Pro36Ser)
|
|
|
|
NM_001927.4(DES):c.1078G>T (p.Ala360Ser)
|
rs121913000
|
|
|
NM_001927.4(DES):c.1085G>A (p.Gly362Asp)
|
|
|
|
NM_001927.4(DES):c.1090C>A (p.Gln364Lys)
|
rs1224165687
|
|
|
NM_001927.4(DES):c.1090C>T (p.Gln364Ter)
|
rs1224165687
|
|
|
NM_001927.4(DES):c.1092G>T (p.Gln364His)
|
|
|
|
NM_001927.4(DES):c.1093G>C (p.Asp365His)
|
|
|
|
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del)
|
rs58687088
|
|
|
NM_001927.4(DES):c.1097A>G (p.Asn366Ser)
|
|
|
|
NM_001927.4(DES):c.1099A>G (p.Ile367Val)
|
rs62636494
|
|
|
NM_001927.4(DES):c.109C>G (p.Arg37Gly)
|
rs537881554
|
|
|
NM_001927.4(DES):c.1100T>C (p.Ile367Thr)
|
rs1480755998
|
|
|
NM_001927.4(DES):c.1101T>C (p.Ile367=)
|
rs1575014904
|
|
|
NM_001927.4(DES):c.1103_1104delinsTA (p.Ala368Val)
|
rs2125168708
|
|
|
NM_001927.4(DES):c.1104_1105delinsAT (p.Arg369Cys)
|
rs2125168717
|
|
|
NM_001927.4(DES):c.1106G>A (p.Arg369His)
|
|
|
|
NM_001927.4(DES):c.1106G>T (p.Arg369Leu)
|
rs1168604493
|
|
|
NM_001927.4(DES):c.1109T>C (p.Leu370Pro)
|
rs59308628
|
|
|
NM_001927.4(DES):c.110G>T (p.Arg37Leu)
|
rs1954363342
|
|
|
NM_001927.4(DES):c.1110GGA[2] (p.Glu373del)
|
rs2125168730
|
|
|
NM_001927.4(DES):c.1118A>C (p.Glu373Ala)
|
|
|
|
NM_001927.4(DES):c.1119A>C (p.Glu373Asp)
|
rs780628142
|
|
|
NM_001927.4(DES):c.1122C>A (p.Ile374=)
|
|
|
|
NM_001927.4(DES):c.1124G>A (p.Arg375Gln)
|
|
|
|
NM_001927.4(DES):c.1126C>G (p.His376Asp)
|
|
|
|
NM_001927.4(DES):c.112del (p.Ala38fs)
|
rs2125165857
|
|
|
NM_001927.4(DES):c.1130T>C (p.Leu377Pro)
|
rs1432061016
|
|
|
NM_001927.4(DES):c.1132_1153del (p.Lys378fs)
|
rs1575014943
|
|
|
NM_001927.4(DES):c.1133A>G (p.Lys378Arg)
|
rs202010947
|
|
|
NM_001927.4(DES):c.1134G>A (p.Lys378=)
|
rs1575014950
|
|
|
NM_001927.4(DES):c.1144G>A (p.Ala382Thr)
|
rs1954441688
|
|
|
NM_001927.4(DES):c.1146C>T (p.Ala382=)
|
|
|
|
NM_001927.4(DES):c.1147C>A (p.Arg383Ser)
|
rs748945548
|
|
|
NM_001927.4(DES):c.1148G>C (p.Arg383Pro)
|
rs1292042317
|
|
|
NM_001927.4(DES):c.114G>A (p.Ala38=)
|
rs368901105
|
|
|
NM_001927.4(DES):c.114G>T (p.Ala38=)
|
rs368901105
|
|
|
NM_001927.4(DES):c.1151A>C (p.His384Pro)
|
|
|
|
NM_001927.4(DES):c.1153C>G (p.Leu385Val)
|
rs1393155504
|
|
|
NM_001927.4(DES):c.1158_1160del (p.Glu387del)
|
rs1559353314
|
|
|
NM_001927.4(DES):c.1159G>A (p.Glu387Lys)
|
rs865961434
|
|
|
NM_001927.4(DES):c.115G>A (p.Gly39Ser)
|
rs758434755
|
|
|
NM_001927.4(DES):c.1166A>G (p.Gln389Arg)
|
|
|
|
NM_001927.4(DES):c.1171del (p.Leu391fs)
|
|
|
|
NM_001927.4(DES):c.1172T>C (p.Leu391Pro)
|
rs1954443135
|
|
|
NM_001927.4(DES):c.1172T>G (p.Leu391Arg)
|
rs1954443135
|
|
|
NM_001927.4(DES):c.1180G>T (p.Val394Leu)
|
rs776786349
|
|
|
NM_001927.4(DES):c.1185G>A (p.Lys395=)
|
rs1386068029
|
|
|
NM_001927.4(DES):c.1187T>C (p.Met396Thr)
|
|
|
|
NM_001927.4(DES):c.1189G>A (p.Ala397Thr)
|
rs727502951
|
|
|
NM_001927.4(DES):c.1193T>C (p.Leu398Pro)
|
rs796115330
|
|
|
NM_001927.4(DES):c.1193del (p.Leu398fs)
|
rs2125168879
|
|
|
NM_001927.4(DES):c.119dup (p.Gly41fs)
|
|
|
|
NM_001927.4(DES):c.11C>A (p.Ala4Asp)
|
|
|
|
NM_001927.4(DES):c.1201G>A (p.Glu401Lys)
|
rs57694264
|
|
|
NM_001927.4(DES):c.1202A>G (p.Glu401Gly)
|
rs1954444202
|
|
|
NM_001927.4(DES):c.1203G>C (p.Glu401Asp)
|
rs2125168897
|
|
|
NM_001927.4(DES):c.1204A>T (p.Ile402Phe)
|
|
|
|
NM_001927.4(DES):c.1205T>C (p.Ile402Thr)
|
rs1553603571
|
|
|
NM_001927.4(DES):c.1205T>G (p.Ile402Ser)
|
rs1553603571
|
|
|
NM_001927.4(DES):c.1208C>A (p.Ala403Asp)
|
|
|
|
NM_001927.4(DES):c.1213del (p.Tyr405fs)
|
rs886043080
|
|
|
NM_001927.4(DES):c.1214A>C (p.Tyr405Ser)
|
rs2125168913
|
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
|
NM_001927.4(DES):c.1217G>C (p.Arg406Pro)
|
|
|
|
NM_001927.4(DES):c.1218G>C (p.Arg406=)
|
|
|
|
NM_001927.4(DES):c.1218G>T (p.Arg406=)
|
|
|
|
NM_001927.4(DES):c.1219A>C (p.Lys407Gln)
|
rs1553603573
|
|
|
NM_001927.4(DES):c.1224G>A (p.Leu408=)
|
rs1454100254
|
|
|
NM_001927.4(DES):c.1227G>T (p.Leu409=)
|
rs143954788
|
|
|
NM_001927.4(DES):c.1228G>A (p.Glu410Lys)
|
rs2125168940
|
|
|
NM_001927.4(DES):c.1236G>T (p.Glu412Asp)
|
|
|
|
NM_001927.4(DES):c.1237G>A (p.Glu413Lys)
|
rs61726467
|
|
|
NM_001927.4(DES):c.1238A>G (p.Glu413Gly)
|
rs1954445270
|
|
|
NM_001927.4(DES):c.123C>T (p.Gly41=)
|
rs1575013025
|
|
|
NM_001927.4(DES):c.1240A>G (p.Ser414Gly)
|
|
|
|
NM_001927.4(DES):c.1243C>G (p.Arg415Gly)
|
rs751942358
|
|
|
NM_001927.4(DES):c.1243del (p.Arg415fs)
|
rs1954445390
|
|
|
NM_001927.4(DES):c.1244+12G>T
|
|
|
|
NM_001927.4(DES):c.1244+17G>A
|
|
|
|
NM_001927.4(DES):c.1244+17G>C
|
rs750992468
|
|
|
NM_001927.4(DES):c.1244+1G>A
|
|
|
|
NM_001927.4(DES):c.1244+20C>T
|
rs1205670028
|
|
|
NM_001927.4(DES):c.1244+8G>A
|
|
|
|
NM_001927.4(DES):c.1244G>A (p.Arg415Gln)
|
rs1262288015
|
|
|
NM_001927.4(DES):c.1245-11T>C
|
|
|
|
NM_001927.4(DES):c.1245-3T>G
|
rs111427762
|
|
|
NM_001927.4(DES):c.1245-7C>G
|
|
|
|
NM_001927.4(DES):c.1248C>G (p.Ile416Met)
|
|
|
|
NM_001927.4(DES):c.1255C>A (p.Pro419Thr)
|
rs62635763
|
|
|
NM_001927.4(DES):c.1255C>T (p.Pro419Ser)
|
rs62635763
|
|
|
NM_001927.4(DES):c.1256C>T (p.Pro419Leu)
|
rs796667045
|
|
|
NM_001927.4(DES):c.1259T>C (p.Ile420Thr)
|
|
|
|
NM_001927.4(DES):c.1262A>G (p.Gln421Arg)
|
rs756613339
|
|
|
NM_001927.4(DES):c.1266C>A (p.Thr422=)
|
rs1954487738
|
|
|
NM_001927.4(DES):c.1269C>T (p.Tyr423=)
|
rs765867148
|
|
|
NM_001927.4(DES):c.1273G>C (p.Ala425Pro)
|
|
|
|
NM_001927.4(DES):c.1279A>T (p.Asn427Tyr)
|
rs1954488237
|
|
|
NM_001927.4(DES):c.1281C>T (p.Asn427=)
|
rs17853018
|
|
|
NM_001927.4(DES):c.1285del (p.Arg429fs)
|
rs1954488513
|
|
|
NM_001927.4(DES):c.1286G>A (p.Arg429Gln)
|
rs200580581
|
|
|
NM_001927.4(DES):c.1288+11G>A
|
rs2125170600
|
|
|
NM_001927.4(DES):c.1288+14G>A
|
|
|
|
NM_001927.4(DES):c.1288G>C (p.Glu430Gln)
|
rs1042793960
|
|
|
NM_001927.4(DES):c.1289-11C>A
|
|
|
|
NM_001927.4(DES):c.1289-11C>T
|
|
|
|
NM_001927.4(DES):c.1289-17G>A
|
|
|
|
NM_001927.4(DES):c.1289-19G>A
|
|
|
|
NM_001927.4(DES):c.1289-19G>T
|
rs2125171911
|
|
|
NM_001927.4(DES):c.1289-9C>T
|
|
|
|
NM_001927.4(DES):c.1293C>T (p.Thr431=)
|
rs2125171932
|
|
|
NM_001927.4(DES):c.1298C>T (p.Pro433Leu)
|
|
|
|
NM_001927.4(DES):c.12C>G (p.Ala4=)
|
rs762566962
|
|
|
NM_001927.4(DES):c.1301A>G (p.Glu434Gly)
|
|
|
|
NM_001927.4(DES):c.1303C>A (p.Gln435Lys)
|
|
|
|
NM_001927.4(DES):c.1303C>G (p.Gln435Glu)
|
|
|
|
NM_001927.4(DES):c.130G>A (p.Gly44Ser)
|
rs1064794869
|
|
|
NM_001927.4(DES):c.1310G>A (p.Gly437Asp)
|
rs878854471
|
|
|
NM_001927.4(DES):c.1312T>G (p.Ser438Ala)
|
rs1553603818
|
|
|
NM_001927.4(DES):c.1317G>A (p.Glu439=)
|
rs1575016807
|
|
|
NM_001927.4(DES):c.131G>T (p.Gly44Val)
|
rs1954364360
|
|
|
NM_001927.4(DES):c.1322A>C (p.His441Pro)
|
|
|
|
NM_001927.4(DES):c.1322A>T (p.His441Leu)
|
rs1064796937
|
|
|
NM_001927.4(DES):c.1323T>G (p.His441Gln)
|
rs751325263
|
|
|
NM_001927.4(DES):c.1324A>C (p.Thr442Pro)
|
rs794728995
|
|
|
NM_001927.4(DES):c.1325C>T (p.Thr442Ile)
|
rs121913005
|
|
|
NM_001927.4(DES):c.1334C>T (p.Thr445Met)
|
|
|
|
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del)
|
rs1064796352
|
|
|
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)
|
rs267607485
|
|
|
NM_001927.4(DES):c.1348A>G (p.Thr450Ala)
|
|
|
|
NM_001927.4(DES):c.1349C>A (p.Thr450Asn)
|
|
|
|
NM_001927.4(DES):c.1349C>T (p.Thr450Ile)
|
|
|
|
NM_001927.4(DES):c.1350C>G (p.Thr450=)
|
|
|
|
NM_001927.4(DES):c.1353C>G (p.Ile451Met)
|
rs121913002
|
|
|
NM_001927.4(DES):c.1353C>T (p.Ile451=)
|
rs121913002
|
|
|
NM_001927.4(DES):c.1354G>A (p.Glu452Lys)
|
|
|
|
NM_001927.4(DES):c.1354_1358del (p.Glu452fs)
|
rs1060503171
|
|
|
NM_001927.4(DES):c.1358C>T (p.Thr453Ile)
|
rs267607488
|
|
|
NM_001927.4(DES):c.1359A>C (p.Thr453=)
|
rs1397831288
|
|
|
NM_001927.4(DES):c.1359A>T (p.Thr453=)
|
|
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
|
NM_001927.4(DES):c.1363G>A (p.Asp455Asn)
|
|
|
|
NM_001927.4(DES):c.1364A>T (p.Asp455Val)
|
rs2125172066
|
|
|
NM_001927.4(DES):c.1366G>A (p.Gly456Arg)
|
rs397516690
|
|
|
NM_001927.4(DES):c.1368G>A (p.Gly456=)
|
rs962437326
|
|
|
NM_001927.4(DES):c.1371+13T>G
|
rs2125172082
|
|
|
NM_001927.4(DES):c.1371+1G>T
|
|
|
|
NM_001927.4(DES):c.1371+2dup
|
rs2125172078
|
|
|
NM_001927.4(DES):c.1372-15T>A
|
rs202245617
|
|
|
NM_001927.4(DES):c.1372-2A>G
|
|
|
|
NM_001927.4(DES):c.1372-3C>T
|
|
|
|
NM_001927.4(DES):c.1372-3dup
|
rs876657769
|
|
|
NM_001927.4(DES):c.1372-6C>T
|
|
|
|
NM_001927.4(DES):c.1372-7T>C
|
rs889499879
|
|
|
NM_001927.4(DES):c.1372-8C>T
|
rs794727968
|
|
|
NM_001927.4(DES):c.1374C>T (p.Val458=)
|
rs727502952
|
|
|
NM_001927.4(DES):c.1379G>A (p.Ser460Asn)
|
|
|
|
NM_001927.4(DES):c.1383G>A (p.Glu461=)
|
rs2125172248
|
|
|
NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu)
|
rs1060503170
|
|
|
NM_001927.4(DES):c.1388C>T (p.Thr463Ile)
|
|
|
|
NM_001927.4(DES):c.138C>A (p.Ser46=)
|
|
|
|
NM_001927.4(DES):c.1390C>T (p.Gln464Ter)
|
rs2125172262
|
|
|
NM_001927.4(DES):c.1404A>G (p.Glu468=)
|
rs397516691
|
|
|
NM_001927.4(DES):c.1408C>T (p.Leu470Phe)
|
rs1060503172
|
|
|
NM_001927.4(DES):c.1409T>C (p.Leu470Pro)
|
rs1954528633
|
|
|
NM_001927.4(DES):c.140G>T (p.Ser47Ile)
|
rs2125165917
|
|
|
NM_001927.4(DES):c.1411T>C (p.Ter471Gln)
|
rs886044329
|
|
|
NM_001927.4(DES):c.154C>A (p.Arg52Ser)
|
rs794728990
|
|
|
NM_001927.4(DES):c.155G>A (p.Arg52His)
|
rs1372689272
|
|
|
NM_001927.4(DES):c.156C>T (p.Arg52=)
|
|
|
|
NM_001927.4(DES):c.157G>A (p.Val53Met)
|
rs1393972560
|
|
|
NM_001927.4(DES):c.157G>T (p.Val53Leu)
|
rs1393972560
|
|
|
NM_001927.4(DES):c.163C>T (p.Gln55Ter)
|
|
|
|
NM_001927.4(DES):c.164A>T (p.Gln55Leu)
|
|
|
|
NM_001927.4(DES):c.166G>T (p.Val56Leu)
|
|
|
|
NM_001927.4(DES):c.171G>T (p.Ser57=)
|
|
|
|
NM_001927.4(DES):c.176C>T (p.Thr59Met)
|
rs773826073
|
|
|
NM_001927.4(DES):c.179C>T (p.Ser60Leu)
|
|
|
|
NM_001927.4(DES):c.17C>G (p.Ser6Trp)
|
rs1214936508
|
|
|
NM_001927.4(DES):c.17C>T (p.Ser6Leu)
|
rs1214936508
|
|
|
NM_001927.4(DES):c.182G>A (p.Gly61Asp)
|
rs1447436485
|
|
|
NM_001927.4(DES):c.186G>T (p.Gly62=)
|
rs1276880158
|
|
|
NM_001927.4(DES):c.188C>T (p.Ala63Val)
|
|
|
|
NM_001927.4(DES):c.194dup (p.Leu66fs)
|
rs1370206753
|
|
|
NM_001927.4(DES):c.195C>T (p.Gly65=)
|
rs1256584430
|
|
|
NM_001927.4(DES):c.1A>G (p.Met1Val)
|
rs1057523274
|
|
|
NM_001927.4(DES):c.204_205delinsAT (p.Ser68_Leu69=)
|
|
|
|
NM_001927.4(DES):c.205C>T (p.Leu69=)
|
rs2125166013
|
|
|
NM_001927.4(DES):c.206T>C (p.Leu69Pro)
|
|
|
|
NM_001927.4(DES):c.208C>T (p.Arg70Trp)
|
rs2125166022
|
|
|
NM_001927.4(DES):c.210G>A (p.Arg70=)
|
rs761255472
|
|
|
NM_001927.4(DES):c.210G>C (p.Arg70=)
|
rs761255472
|
|
|
NM_001927.4(DES):c.211G>T (p.Ala71Ser)
|
|
|
|
NM_001927.4(DES):c.213C>T (p.Ala71=)
|
|
|
|
NM_001927.4(DES):c.218G>T (p.Arg73Leu)
|
rs752518966
|
|
|
NM_001927.4(DES):c.219G>A (p.Arg73=)
|
|
|
|
NM_001927.4(DES):c.221T>A (p.Leu74Gln)
|
rs1164195329
|
|
|
NM_001927.4(DES):c.224G>A (p.Gly75Glu)
|
|
|
|
NM_001927.4(DES):c.228C>G (p.Thr76=)
|
rs780233346
|
|
|
NM_001927.4(DES):c.228C>T (p.Thr76=)
|
|
|
|
NM_001927.4(DES):c.22A>G (p.Ser8Gly)
|
|
|
|
NM_001927.4(DES):c.230C>T (p.Thr77Ile)
|
rs1392710887
|
|
|
NM_001927.4(DES):c.232C>T (p.Arg78Cys)
|
|
|
|
NM_001927.4(DES):c.235A>C (p.Thr79Pro)
|
|
|
|
NM_001927.4(DES):c.236C>T (p.Thr79Met)
|
|
|
|
NM_001927.4(DES):c.238C>T (p.Pro80Ser)
|
|
|
|
NM_001927.4(DES):c.239CCT[2] (p.Ser82del)
|
|
|
|
NM_001927.4(DES):c.240C>T (p.Pro80=)
|
|
|
|
NM_001927.4(DES):c.244T>C (p.Ser82Pro)
|
|
|
|
NM_001927.4(DES):c.245C>T (p.Ser82Phe)
|
rs1358038961
|
|
|
NM_001927.4(DES):c.246C>G (p.Ser82=)
|
|
|
|
NM_001927.4(DES):c.249C>A (p.Tyr83Ter)
|
|
|
|
NM_001927.4(DES):c.249C>T (p.Tyr83=)
|
rs2125166116
|
|
|
NM_001927.4(DES):c.252C>T (p.Gly84=)
|
|
|
|
NM_001927.4(DES):c.253G>A (p.Ala85Thr)
|
|
|
|
NM_001927.4(DES):c.254C>T (p.Ala85Val)
|
|
|
|
NM_001927.4(DES):c.258C>A (p.Gly86=)
|
rs994454109
|
|
|
NM_001927.4(DES):c.258C>T (p.Gly86=)
|
rs994454109
|
|
|
NM_001927.4(DES):c.261G>T (p.Glu87Asp)
|
|
|
|
NM_001927.4(DES):c.264G>C (p.Leu88=)
|
|
|
|
NM_001927.4(DES):c.269A>C (p.Asp90Ala)
|
rs1954369708
|
|
|
NM_001927.4(DES):c.269A>T (p.Asp90Val)
|
rs1954369708
|
|
|
NM_001927.4(DES):c.275C>T (p.Ser92Leu)
|
rs1954369865
|
|
|
NM_001927.4(DES):c.278T>C (p.Leu93Pro)
|
|
|
|
NM_001927.4(DES):c.284A>T (p.Asp95Val)
|
rs1954370194
|
|
|
NM_001927.4(DES):c.285C>T (p.Asp95=)
|
rs562875165
|
|
|
NM_001927.4(DES):c.287C>G (p.Ala96Gly)
|
|
|
|
NM_001927.4(DES):c.28C>A (p.Arg10Ser)
|
rs1196125127
|
|
|
NM_001927.4(DES):c.292A>T (p.Asn98Tyr)
|
|
|
|
NM_001927.4(DES):c.294C>T (p.Asn98=)
|
|
|
|
NM_001927.4(DES):c.299A>G (p.Glu100Gly)
|
|
|
|
NM_001927.4(DES):c.2T>C (p.Met1Thr)
|
rs2125165615
|
|
|
NM_001927.4(DES):c.300dup (p.Phe101fs)
|
|
|
|
NM_001927.4(DES):c.306G>A (p.Leu102=)
|
rs2125166197
|
|
|
NM_001927.4(DES):c.309C>T (p.Thr103=)
|
|
|
|
NM_001927.4(DES):c.309del (p.Thr104fs)
|
rs2125166200
|
|
|
NM_001927.4(DES):c.30C>T (p.Arg10=)
|
rs886042179
|
|
|
NM_001927.4(DES):c.310A>G (p.Thr104Ala)
|
rs1559352310
|
|
|
NM_001927.4(DES):c.311C>G (p.Thr104Arg)
|
rs980849177
|
|
|
NM_001927.4(DES):c.311C>T (p.Thr104Met)
|
rs980849177
|
|
|
NM_001927.4(DES):c.312G>T (p.Thr104=)
|
|
|
|
NM_001927.4(DES):c.314G>T (p.Arg105Leu)
|
rs1406795636
|
|
|
NM_001927.4(DES):c.319A>G (p.Asn107Asp)
|
rs2125166213
|
|
|
NM_001927.4(DES):c.31G>A (p.Val11Met)
|
|
|
|
NM_001927.4(DES):c.31G>T (p.Val11Leu)
|
|
|
|
NM_001927.4(DES):c.320A>C (p.Asn107Thr)
|
rs1156440628
|
|
|
NM_001927.4(DES):c.321C>A (p.Asn107Lys)
|
|
|
|
NM_001927.4(DES):c.322G>A (p.Glu108Lys)
|
rs62636490
|
|
|
NM_001927.4(DES):c.323A>G (p.Glu108Gly)
|
rs1954371679
|
|
|
NM_001927.4(DES):c.325A>G (p.Lys109Glu)
|
rs1954371825
|
|
|
NM_001927.4(DES):c.326A>G (p.Lys109Arg)
|
rs1488426454
|
|
|
NM_001927.4(DES):c.32T>C (p.Val11Ala)
|
|
|
|
NM_001927.4(DES):c.335T>G (p.Leu112Arg)
|
rs1954372144
|
|
|
NM_001927.4(DES):c.339G>A (p.Gln113=)
|
|
|
|
NM_001927.4(DES):c.341A>G (p.Glu114Gly)
|
rs2125166251
|
|
|
NM_001927.4(DES):c.343C>A (p.Leu115Ile)
|
|
|
|
NM_001927.4(DES):c.343C>T (p.Leu115Phe)
|
|
|
|
NM_001927.4(DES):c.344T>C (p.Leu115Pro)
|
rs2125166259
|
|
|
NM_001927.4(DES):c.345C>G (p.Leu115=)
|
|
|
|
NM_001927.4(DES):c.346_350delinsTAGT (p.Asn116_Asp117delinsTer)
|
|
|
|
NM_001927.4(DES):c.347A>G (p.Asn116Ser)
|
rs267607499
|
|
|
NM_001927.4(DES):c.347A>T (p.Asn116Ile)
|
rs267607499
|
|
|
NM_001927.4(DES):c.349G>C (p.Asp117His)
|
rs1954372615
|
|
|
NM_001927.4(DES):c.352C>A (p.Arg118Ser)
|
rs1188232371
|
|
|
NM_001927.4(DES):c.354C>G (p.Arg118=)
|
|
|
|
NM_001927.4(DES):c.358G>C (p.Ala120Pro)
|
rs794728996
|
|
|
NM_001927.4(DES):c.359C>A (p.Ala120Asp)
|
rs1954373010
|
|
|
NM_001927.4(DES):c.359C>G (p.Ala120Gly)
|
|
|
|
NM_001927.4(DES):c.35C>T (p.Ser12Phe)
|
rs267607495
|
|
|
NM_001927.4(DES):c.360C>T (p.Ala120=)
|
rs1553603246
|
|
|
NM_001927.4(DES):c.361A>C (p.Asn121His)
|
rs1954373113
|
|
|
NM_001927.4(DES):c.365A>G (p.Tyr122Cys)
|
rs1400593451
|
|
|
NM_001927.4(DES):c.368T>G (p.Ile123Ser)
|
|
|
|
NM_001927.4(DES):c.36C>T (p.Ser12=)
|
|
|
|
NM_001927.4(DES):c.371A>C (p.Glu124Ala)
|
rs564121737
|
|
|
NM_001927.4(DES):c.373A>T (p.Lys125Ter)
|
rs886043000
|
|
|
NM_001927.4(DES):c.376G>T (p.Val126Leu)
|
rs876657770
|
|
|
NM_001927.4(DES):c.379C>G (p.Arg127Gly)
|
rs868157645
|
|
|
NM_001927.4(DES):c.379C>T (p.Arg127Cys)
|
|
|
|
NM_001927.4(DES):c.37T>C (p.Ser13Pro)
|
rs1954359599
|
|
|
NM_001927.4(DES):c.380G>C (p.Arg127Pro)
|
rs397516694
|
|
|
NM_001927.4(DES):c.386T>G (p.Leu129Arg)
|
rs1954374163
|
|
|
NM_001927.4(DES):c.38C>A (p.Ser13Tyr)
|
rs62636495
|
|
|
NM_001927.4(DES):c.38C>T (p.Ser13Phe)
|
rs62636495
|
|
|
NM_001927.4(DES):c.394C>T (p.Gln132Ter)
|
rs1060503165
|
|
|
NM_001927.4(DES):c.399C>T (p.Asn133=)
|
|
|
|
NM_001927.4(DES):c.401C>A (p.Ala134Glu)
|
|
|
|
NM_001927.4(DES):c.404C>G (p.Ala135Gly)
|
rs546741834
|
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
|
NM_001927.4(DES):c.405G>A (p.Ala135=)
|
rs1344076921
|
|
|
NM_001927.4(DES):c.406C>G (p.Leu136Val)
|
rs1175707667
|
|
|
NM_001927.4(DES):c.408C>A (p.Leu136=)
|
rs111828114
|
|
|
NM_001927.4(DES):c.409G>A (p.Ala137Thr)
|
|
|
|
NM_001927.4(DES):c.410C>A (p.Ala137Asp)
|
rs775115627
|
|
|
NM_001927.4(DES):c.411C>T (p.Ala137=)
|
rs549278754
|
|
|
NM_001927.4(DES):c.415G>A (p.Glu139Lys)
|
rs763769862
|
|
|
NM_001927.4(DES):c.418G>A (p.Val140Met)
|
rs1377068684
|
|
|
NM_001927.4(DES):c.418G>C (p.Val140Leu)
|
rs1377068684
|
|
|
NM_001927.4(DES):c.423C>T (p.Asn141=)
|
rs1954375978
|
|
|
NM_001927.4(DES):c.425G>C (p.Arg142Pro)
|
|
|
|
NM_001927.4(DES):c.427C>G (p.Leu143Val)
|
rs1954376231
|
|
|
NM_001927.4(DES):c.428T>G (p.Leu143Arg)
|
|
|
|
NM_001927.4(DES):c.434G>A (p.Gly145Asp)
|
rs1553603267
|
|
|
NM_001927.4(DES):c.435C>T (p.Gly145=)
|
|
|
|
NM_001927.4(DES):c.436C>G (p.Arg146Gly)
|
|
|
|
NM_001927.4(DES):c.438C>T (p.Arg146=)
|
|
|
|
NM_001927.4(DES):c.439G>C (p.Glu147Gln)
|
|
|
|
NM_001927.4(DES):c.43C>A (p.Arg15Ser)
|
rs756390565
|
|
|
NM_001927.4(DES):c.43C>G (p.Arg15Gly)
|
|
|
|
NM_001927.4(DES):c.43C>T (p.Arg15Cys)
|
rs756390565
|
|
|
NM_001927.4(DES):c.444G>A (p.Pro148=)
|
rs767505861
|
|
|
NM_001927.4(DES):c.447G>C (p.Thr149=)
|
rs1575013396
|
|
|
NM_001927.4(DES):c.449G>A (p.Arg150Gln)
|
rs876661344
|
|
|
NM_001927.4(DES):c.452_459del (p.Val151fs)
|
rs2125166454
|
|
|
NM_001927.4(DES):c.456C>G (p.Ala152=)
|
|
|
|
NM_001927.4(DES):c.456C>T (p.Ala152=)
|
|
|
|
NM_001927.4(DES):c.458A>G (p.Glu153Gly)
|
|
|
|
NM_001927.4(DES):c.459G>C (p.Glu153Asp)
|
|
|
|
NM_001927.4(DES):c.45C>T (p.Arg15=)
|
rs1575012917
|
|
|
NM_001927.4(DES):c.462C>T (p.Leu154=)
|
|
|
|
NM_001927.4(DES):c.465C>T (p.Tyr155=)
|
rs1458306248
|
|
|
NM_001927.4(DES):c.466G>A (p.Glu156Lys)
|
rs765471098
|
|
|
NM_001927.4(DES):c.466G>C (p.Glu156Gln)
|
rs765471098
|
|
|
NM_001927.4(DES):c.466GAG[2] (p.Glu158del)
|
|
|
|
NM_001927.4(DES):c.467A>T (p.Glu156Val)
|
rs2125166482
|
|
|
NM_001927.4(DES):c.46C>A (p.Arg16Ser)
|
rs60798368
|
|
|
NM_001927.4(DES):c.472GAGCTGCGG[3] (p.Arg163_Arg164insGluLeuArg)
|
|
|
|
NM_001927.4(DES):c.473A>T (p.Glu158Val)
|
rs1085307571
|
|
|
NM_001927.4(DES):c.477G>A (p.Leu159=)
|
rs1423370718
|
|
|
NM_001927.4(DES):c.480G>A (p.Arg160=)
|
|
|
|
NM_001927.4(DES):c.482A>G (p.Glu161Gly)
|
|
|
|
NM_001927.4(DES):c.482_490dup (p.Arg163_Arg164insGlnLeuArg)
|
|
|
|
NM_001927.4(DES):c.488G>A (p.Arg163Gln)
|
rs1457012198
|
|
|
NM_001927.4(DES):c.488_505dup (p.Arg163_Val168dup)
|
rs1954378812
|
|
|
NM_001927.4(DES):c.49A>C (p.Thr17Pro)
|
|
|
|
NM_001927.4(DES):c.500A>T (p.Glu167Val)
|
|
|
|
NM_001927.4(DES):c.501G>T (p.Glu167Asp)
|
rs1277110592
|
|
|
NM_001927.4(DES):c.50C>A (p.Thr17Asn)
|
rs1954360300
|
|
|
NM_001927.4(DES):c.512A>C (p.Asn171Thr)
|
|
|
|
NM_001927.4(DES):c.514C>T (p.Gln172Ter)
|
rs1559352440
|
|
|
NM_001927.4(DES):c.515A>C (p.Gln172Pro)
|
rs2125166557
|
|
|
NM_001927.4(DES):c.517C>G (p.Arg173Gly)
|
|
|
|
NM_001927.4(DES):c.518G>A (p.Arg173His)
|
|
|
|
NM_001927.4(DES):c.519C>A (p.Arg173=)
|
rs758686466
|
|
|
NM_001927.4(DES):c.520G>A (p.Ala174Thr)
|
|
|
|
NM_001927.4(DES):c.525C>A (p.Arg175=)
|
rs1477068739
|
|
|
NM_001927.4(DES):c.525_526del (p.Val176fs)
|
rs769096434
|
|
|
NM_001927.4(DES):c.525_526dup (p.Val176fs)
|
|
|
|
NM_001927.4(DES):c.528C>G (p.Val176=)
|
rs1057522906
|
|
|
NM_001927.4(DES):c.528C>T (p.Val176=)
|
rs1057522906
|
|
|
NM_001927.4(DES):c.529G>A (p.Asp177Asn)
|
rs1057524813
|
|
|
NM_001927.4(DES):c.536A>T (p.Glu179Val)
|
|
|
|
NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del)
|
|
|
|
NM_001927.4(DES):c.541G>C (p.Asp181His)
|
rs1297244198
|
|
|
NM_001927.4(DES):c.543C>G (p.Asp181Glu)
|
|
|
|
NM_001927.4(DES):c.543C>T (p.Asp181=)
|
rs1954382613
|
|
|
NM_001927.4(DES):c.544_555del (p.Asn182_Asp185del)
|
rs1954382461
|
|
|
NM_001927.4(DES):c.544_558del (p.Asn182_Asp186del)
|
|
|
|
NM_001927.4(DES):c.549_564del (p.Leu184fs)
|
|
|
|
NM_001927.4(DES):c.553G>A (p.Asp185Asn)
|
|
|
|
NM_001927.4(DES):c.554A>T (p.Asp185Val)
|
|
|
|
NM_001927.4(DES):c.556G>A (p.Asp186Asn)
|
|
|
|
NM_001927.4(DES):c.556G>C (p.Asp186His)
|
|
|
|
NM_001927.4(DES):c.556G>T (p.Asp186Tyr)
|
rs878854473
|
|
|
NM_001927.4(DES):c.558C>G (p.Asp186Glu)
|
rs1575013561
|
|
|
NM_001927.4(DES):c.55G>C (p.Gly19Arg)
|
rs936853024
|
|
|
NM_001927.4(DES):c.560T>C (p.Leu187Pro)
|
rs1248833348
|
|
|
NM_001927.4(DES):c.564G>T (p.Gln188His)
|
|
|
|
NM_001927.4(DES):c.567G>A (p.Arg189=)
|
|
|
|
NM_001927.4(DES):c.570C>G (p.Leu190=)
|
|
|
|
NM_001927.4(DES):c.571A>G (p.Lys191Glu)
|
rs1483093429
|
|
|
NM_001927.4(DES):c.575C>T (p.Ala192Val)
|
rs889191100
|
|
|
NM_001927.4(DES):c.578+10C>T
|
rs969392028
|
|
|
NM_001927.4(DES):c.579-15G>C
|
|
|
|
NM_001927.4(DES):c.579-2A>C
|
|
|
|
NM_001927.4(DES):c.579-5C>A
|
rs886042889
|
|
|
NM_001927.4(DES):c.586GAG[1] (p.Glu197del)
|
rs1954405702
|
|
|
NM_001927.4(DES):c.591G>A (p.Glu197=)
|
rs1440985603
|
|
|
NM_001927.4(DES):c.594T>C (p.Ile198=)
|
|
|
|
NM_001927.4(DES):c.599T>A (p.Leu200Ter)
|
rs2125167364
|
|
|
NM_001927.4(DES):c.59G>A (p.Gly20Glu)
|
rs2125165738
|
|
|
NM_001927.4(DES):c.5G>T (p.Ser2Ile)
|
rs58999456
|
|
|
NM_001927.4(DES):c.600G>A (p.Leu200=)
|
rs1575014014
|
|
|
NM_001927.4(DES):c.602A>G (p.Lys201Arg)
|
|
|
|
NM_001927.4(DES):c.607G>A (p.Glu203Lys)
|
rs2125167376
|
|
|
NM_001927.4(DES):c.610G>A (p.Ala204Thr)
|
rs1575014034
|
|
|
NM_001927.4(DES):c.610G>T (p.Ala204Ser)
|
rs1575014034
|
|
|
NM_001927.4(DES):c.615G>A (p.Glu205=)
|
rs1295010624
|
|
|
NM_001927.4(DES):c.618C>A (p.Asn206Lys)
|
|
|
|
NM_001927.4(DES):c.61G>A (p.Ala21Thr)
|
|
|
|
NM_001927.4(DES):c.622T>C (p.Leu208=)
|
rs764389526
|
|
|
NM_001927.4(DES):c.623T>C (p.Leu208Ser)
|
rs373062962
|
|
|
NM_001927.4(DES):c.623T>G (p.Leu208Trp)
|
|
|
|
NM_001927.4(DES):c.629C>T (p.Ala210Val)
|
rs1060503169
|
|
|
NM_001927.4(DES):c.62C>A (p.Ala21Asp)
|
rs755107287
|
|
|
NM_001927.4(DES):c.639+13_639+15del
|
rs876657448
|
|
|
NM_001927.4(DES):c.639+16T>C
|
|
|
|
NM_001927.4(DES):c.639+17T>G
|
rs1954407967
|
|
|
NM_001927.4(DES):c.639+4A>G
|
|
|
|
NM_001927.4(DES):c.639+5G>A
|
|
|
|
NM_001927.4(DES):c.640-14T>C
|
|
|
|
NM_001927.4(DES):c.640-15C>A
|
|
|
|
NM_001927.4(DES):c.640-2A>G
|
rs267607492
|
|
|
NM_001927.4(DES):c.640-3C>T
|
|
|
|
NM_001927.4(DES):c.643G>C (p.Val215Leu)
|
|
|
|
NM_001927.4(DES):c.650C>T (p.Ala217Val)
|
|
|
|
NM_001927.4(DES):c.669_670delinsCC (p.Asp224His)
|
rs1954411290
|
|
|
NM_001927.4(DES):c.678G>A (p.Glu226=)
|
|
|
|
NM_001927.4(DES):c.680G>T (p.Arg227Leu)
|
rs141486420
|
|
|
NM_001927.4(DES):c.681C>T (p.Arg227=)
|
|
|
|
NM_001927.4(DES):c.683G>T (p.Arg228Ile)
|
|
|
|
NM_001927.4(DES):c.68G>A (p.Gly23Asp)
|
|
|
|
NM_001927.4(DES):c.68G>C (p.Gly23Ala)
|
|
|
|
NM_001927.4(DES):c.694C>G (p.Leu232Val)
|
|
|
|
NM_001927.4(DES):c.696C>T (p.Leu232=)
|
rs2125167618
|
|
|
NM_001927.4(DES):c.700G>A (p.Glu234Lys)
|
rs774739275
|
|
|
NM_001927.4(DES):c.702G>A (p.Glu234=)
|
|
|
|
NM_001927.4(DES):c.705G>A (p.Glu235=)
|
rs370836572
|
|
|
NM_001927.4(DES):c.709G>A (p.Ala237Thr)
|
rs397516697
|
|
|
NM_001927.4(DES):c.709G>T (p.Ala237Ser)
|
rs397516697
|
|
|
NM_001927.4(DES):c.711G>A (p.Ala237=)
|
rs757102249
|
|
|
NM_001927.4(DES):c.715C>T (p.Leu239Phe)
|
|
|
|
NM_001927.4(DES):c.717_725del (p.Lys240_Val242del)
|
|
|
|
NM_001927.4(DES):c.718A>G (p.Lys240Glu)
|
rs1954413354
|
|
|
NM_001927.4(DES):c.722_724del (p.Lys241_Val242delinsMet)
|
|
|
|
NM_001927.4(DES):c.725T>A (p.Val242Glu)
|
rs794728984
|
|
|
NM_001927.4(DES):c.729T>C (p.His243=)
|
rs949090924
|
|
|
NM_001927.4(DES):c.732_735+3del
|
|
|
|
NM_001927.4(DES):c.734A>G (p.Glu245Gly)
|
rs1575014243
|
|
|
NM_001927.4(DES):c.735+10G>A
|
rs774435644
|
|
|
NM_001927.4(DES):c.735+10G>T
|
rs774435644
|
|
|
NM_001927.4(DES):c.735+11G>A
|
rs1559352868
|
|
|
NM_001927.4(DES):c.735+15C>T
|
|
|
|
NM_001927.4(DES):c.735+1G>A
|
rs397516698
|
|
|
NM_001927.4(DES):c.735+1G>T
|
rs397516698
|
|
|
NM_001927.4(DES):c.735+3A>G
|
rs267607483
|
|
|
NM_001927.4(DES):c.735+3A>T
|
rs267607483
|
|
|
NM_001927.4(DES):c.735+6C>A
|
|
|
|
NM_001927.4(DES):c.735+6C>T
|
rs1302528006
|
|
|
NM_001927.4(DES):c.735+8T>C
|
|
|
|
NM_001927.4(DES):c.735+9T>C
|
|
|
|
NM_001927.4(DES):c.735G>A (p.Glu245=)
|
rs267607486
|
|
|
NM_001927.4(DES):c.735_735+3dup
|
rs1954413969
|
|
|
NM_001927.4(DES):c.736-12C>G
|
|
|
|
NM_001927.4(DES):c.736-3C>A
|
|
|
|
NM_001927.4(DES):c.736-8C>T
|
|
|
|
NM_001927.4(DES):c.736-9G>A
|
rs1553603433
|
|
|
NM_001927.4(DES):c.736G>A (p.Glu246Lys)
|
|
|
|
NM_001927.4(DES):c.738G>C (p.Glu246Asp)
|
rs1954417703
|
|
|
NM_001927.4(DES):c.73C>G (p.Pro25Ala)
|
|
|
|
NM_001927.4(DES):c.742C>A (p.Arg248Ser)
|
|
|
|
NM_001927.4(DES):c.742C>T (p.Arg248Cys)
|
rs772117708
|
|
|
NM_001927.4(DES):c.743G>A (p.Arg248His)
|
rs375906682
|
|
|
NM_001927.4(DES):c.743G>T (p.Arg248Leu)
|
|
|
|
NM_001927.4(DES):c.74_75insGCTCGGCTCCCC (p.Gly27_Leu30dup)
|
rs1287075970
|
|
|
NM_001927.4(DES):c.74_75inv (p.Pro25Leu)
|
|
|
|
NM_001927.4(DES):c.75A>T (p.Pro25=)
|
rs1318299
|
|
|
NM_001927.4(DES):c.760C>T (p.Leu254Phe)
|
|
|
|
NM_001927.4(DES):c.761T>G (p.Leu254Arg)
|
rs1559352926
|
|
|
NM_001927.4(DES):c.767A>G (p.Glu256Gly)
|
rs1553603440
|
|
|
NM_001927.4(DES):c.769C>T (p.Gln257Ter)
|
|
|
|
NM_001927.4(DES):c.770A>G (p.Gln257Arg)
|
rs1954418582
|
|
|
NM_001927.4(DES):c.775G>A (p.Val259Ile)
|
|
|
|
NM_001927.4(DES):c.77T>A (p.Leu26His)
|
rs1064796529
|
|
|
NM_001927.4(DES):c.78C>G (p.Leu26=)
|
rs1252527107
|
|
|
NM_001927.4(DES):c.790G>A (p.Asp264Asn)
|
|
|
|
NM_001927.4(DES):c.793A>G (p.Met265Val)
|
|
|
|
NM_001927.4(DES):c.796T>C (p.Ser266Pro)
|
rs1342331264
|
|
|
NM_001927.4(DES):c.79G>C (p.Gly27Arg)
|
rs727504877
|
|
|
NM_001927.4(DES):c.7C>T (p.Gln3Ter)
|
rs1954358233
|
|
|
NM_001927.4(DES):c.802C>G (p.Pro268Ala)
|
rs1434613160
|
|
|
NM_001927.4(DES):c.807C>T (p.Asp269=)
|
|
|
|
NM_001927.4(DES):c.80G>A (p.Gly27Asp)
|
rs1575012966
|
|
|
NM_001927.4(DES):c.811A>T (p.Thr271Ser)
|
rs2125167886
|
|
|
NM_001927.4(DES):c.817G>T (p.Ala273Ser)
|
rs770258461
|
|
|
NM_001927.4(DES):c.823A>C (p.Arg275=)
|
|
|
|
NM_001927.4(DES):c.823A>G (p.Arg275Gly)
|
rs994389035
|
|
|
NM_001927.4(DES):c.825G>A (p.Arg275=)
|
|
|
|
NM_001927.4(DES):c.826G>A (p.Asp276Asn)
|
rs1436186019
|
|
|
NM_001927.4(DES):c.829_831del (p.Ile277del)
|
|
|
|
NM_001927.4(DES):c.830T>A (p.Ile277Asn)
|
rs1459036752
|
|
|
NM_001927.4(DES):c.832C>T (p.Arg278Trp)
|
rs794728985
|
|
|
NM_001927.4(DES):c.833G>A (p.Arg278Gln)
|
|
|
|
NM_001927.4(DES):c.833G>C (p.Arg278Pro)
|
rs761475402
|
|
|
NM_001927.4(DES):c.834G>C (p.Arg278=)
|
|
|
|
NM_001927.4(DES):c.839A>G (p.Gln280Arg)
|
rs750160975
|
|
|
NM_001927.4(DES):c.840G>A (p.Gln280=)
|
rs1954420895
|
|
|
NM_001927.4(DES):c.840G>C (p.Gln280His)
|
rs1954420895
|
|
|
NM_001927.4(DES):c.844G>A (p.Glu282Lys)
|
|
|
|
NM_001927.4(DES):c.845A>G (p.Glu282Gly)
|
|
|
|
NM_001927.4(DES):c.852C>T (p.Ile284=)
|
|
|
|
NM_001927.4(DES):c.854C>G (p.Ala285Gly)
|
|
|
|
NM_001927.4(DES):c.858T>C (p.Ala286=)
|
rs2125167964
|
|
|
NM_001927.4(DES):c.869C>A (p.Ser290Tyr)
|
rs981782522
|
|
|
NM_001927.4(DES):c.869C>G (p.Ser290Cys)
|
|
|
|
NM_001927.4(DES):c.86C>G (p.Pro29Arg)
|
|
|
|
NM_001927.4(DES):c.86C>T (p.Pro29Leu)
|
rs1378987625
|
|
|
NM_001927.4(DES):c.871G>A (p.Glu291Lys)
|
|
|
|
NM_001927.4(DES):c.876T>C (p.Ala292=)
|
|
|
|
NM_001927.4(DES):c.87G>T (p.Pro29=)
|
rs2125165803
|
|
|
NM_001927.4(DES):c.886T>C (p.Tyr296His)
|
rs2125167990
|
|
|
NM_001927.4(DES):c.88C>T (p.Leu30=)
|
|
|
|
NM_001927.4(DES):c.891G>A (p.Lys297=)
|
|
|
|
NM_001927.4(DES):c.897+10C>T
|
rs2125168018
|
|
|
NM_001927.4(DES):c.897+13_897+14delinsCT
|
|
|
|
NM_001927.4(DES):c.897+15C>T
|
|
|
|
NM_001927.4(DES):c.897+16C>A
|
|
|
|
NM_001927.4(DES):c.897+17G>T
|
|
|
|
NM_001927.4(DES):c.897+19_897+20del
|
|
|
|
NM_001927.4(DES):c.897+20G>A
|
|
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
|
NM_001927.4(DES):c.897+6T>G
|
rs1954422546
|
|
|
NM_001927.4(DES):c.897+8G>T
|
rs1057520465
|
|
|
NM_001927.4(DES):c.898-13T>C
|
|
|
|
NM_001927.4(DES):c.898-16C>T
|
rs1490911520
|
|
|
NM_001927.4(DES):c.898-17C>T
|
|
|
|
NM_001927.4(DES):c.898-18C>T
|
rs1954425409
|
|
|
NM_001927.4(DES):c.898-19C>A
|
|
|
|
NM_001927.4(DES):c.898-19C>T
|
|
|
|
NM_001927.4(DES):c.898-20G>T
|
|
|
|
NM_001927.4(DES):c.898-6C>T
|
rs2125168127
|
|
|
NM_001927.4(DES):c.898-7C>A
|
|
|
|
NM_001927.4(DES):c.898G>A (p.Val300Met)
|
rs2125168133
|
|
|
NM_001927.4(DES):c.8A>G (p.Gln3Arg)
|
rs1954358286
|
|
|
NM_001927.4(DES):c.904G>C (p.Asp302His)
|
|
|
|
NM_001927.4(DES):c.906C>A (p.Asp302Glu)
|
rs1224203630
|
|
|
NM_001927.4(DES):c.912C>A (p.Thr304=)
|
rs778826152
|
|
|
NM_001927.4(DES):c.919G>T (p.Ala307Ser)
|
|
|
|
NM_001927.4(DES):c.921CAA[1] (p.Asn308del)
|
|
|
|
NM_001927.4(DES):c.931A>G (p.Asn311Asp)
|
|
|
|
NM_001927.4(DES):c.936C>A (p.Asp312Glu)
|
|
|
|
NM_001927.4(DES):c.939C>T (p.Ala313=)
|
rs1060504848
|
|
|
NM_001927.4(DES):c.93T>G (p.Ser31Arg)
|
rs2017800
|
|
|
NM_001927.4(DES):c.944G>A (p.Arg315His)
|
rs771455648
|
|
|
NM_001927.4(DES):c.944G>T (p.Arg315Leu)
|
|
|
|
NM_001927.4(DES):c.961A>G (p.Met321Val)
|
rs1954427673
|
|
|
NM_001927.4(DES):c.962T>A (p.Met321Lys)
|
|
|
|
NM_001927.4(DES):c.962T>C (p.Met321Thr)
|
rs760197212
|
|
|
NM_001927.4(DES):c.973C>T (p.Arg325Ter)
|
rs959034410
|
|
|
NM_001927.4(DES):c.975A>G (p.Arg325=)
|
rs1575014604
|
|
|
NM_001927.4(DES):c.976C>T (p.His326Tyr)
|
rs794728987
|
|
|
NM_001927.4(DES):c.977A>G (p.His326Arg)
|
rs2125168243
|
|
|
NM_001927.4(DES):c.978C>T (p.His326=)
|
|
|
|
NM_001927.4(DES):c.985C>T (p.Gln329Ter)
|
rs759320891
|
|
|
NM_001927.4(DES):c.986A>C (p.Gln329Pro)
|
rs1060503168
|
|
|
NM_001927.4(DES):c.986A>G (p.Gln329Arg)
|
|
|
|
NM_001927.4(DES):c.987G>A (p.Gln329=)
|
|
|
|
NM_001927.4(DES):c.991T>A (p.Tyr331Asn)
|
rs1064795298
|
|
|
NM_001927.4(DES):c.992A>C (p.Tyr331Ser)
|
rs1954428602
|
|
|
NM_001927.4(DES):c.995C>A (p.Thr332Asn)
|
|
|
|
NM_001927.4(DES):c.995C>T (p.Thr332Ile)
|
rs368453327
|
|
|
NM_001927.4(DES):c.997T>C (p.Cys333Arg)
|
|
|
|
NM_001927.4(DES):c.999C>T (p.Cys333=)
|
rs1157722667
|
|
|
NM_001927.4(DES):c.9G>A (p.Gln3=)
|
|
|
|
NM_002469.3(MYF6):c.104C>T (p.Pro35Leu)
|
rs2121343603
|
|
|
NM_002469.3(MYF6):c.145C>G (p.Pro49Ala)
|
|
|
|
NM_002469.3(MYF6):c.176A>T (p.Glu59Val)
|
rs1332444958
|
|
|
NM_002469.3(MYF6):c.183T>G (p.His61Gln)
|
rs776368255
|
|
|
NM_002469.3(MYF6):c.273dup (p.Thr92fs)
|
rs768710318
|
|
|
NM_002469.3(MYF6):c.280C>T (p.Arg94Trp)
|
rs1188507871
|
|
|
NM_002469.3(MYF6):c.294C>T (p.Ala98=)
|
rs753157281
|
|
|
NM_002469.3(MYF6):c.352C>G (p.Arg118Gly)
|
rs34563783
|
|
|
NM_002469.3(MYF6):c.459G>C (p.Gln153His)
|
rs1868399214
|
|
|
NM_002469.3(MYF6):c.478C>T (p.Leu160=)
|
rs368477055
|
|
|
NM_002469.3(MYF6):c.511C>G (p.Gln171Glu)
|
rs1013493242
|
|
|
NM_002469.3(MYF6):c.587G>A (p.Gly196Glu)
|
rs750182640
|
|
|
NM_002469.3(MYF6):c.691C>G (p.Arg231Gly)
|
rs1408693660
|
|
|
NM_003283.6(TNNT1):c.106+18G>C
|
|
|
|
NM_003283.6(TNNT1):c.107-10C>T
|
|
|
|
NM_003283.6(TNNT1):c.107-11A>C
|
rs2147265069
|
|
|
NM_003283.6(TNNT1):c.107-12C>T
|
|
|
|
NM_003283.6(TNNT1):c.107-9C>G
|
|
|
|
NM_003283.6(TNNT1):c.115C>A (p.Arg39Ser)
|
|
|
|
NM_003283.6(TNNT1):c.116G>A (p.Arg39His)
|
rs1599891643
|
|
|
NM_003283.6(TNNT1):c.11C>T (p.Thr4Ile)
|
rs1568849957
|
|
|
NM_003283.6(TNNT1):c.120dup (p.Lys41fs)
|
rs1555859304
|
|
|
NM_003283.6(TNNT1):c.123A>G (p.Lys41=)
|
|
|
|
NM_003283.6(TNNT1):c.128+20G>T
|
|
|
|
NM_003283.6(TNNT1):c.129-16G>C
|
|
|
|
NM_003283.6(TNNT1):c.129-16_129-15del
|
|
|
|
NM_003283.6(TNNT1):c.129-5C>G
|
rs997219637
|
|
|
NM_003283.6(TNNT1):c.129-6A>C
|
rs2147256936
|
|
|
NM_003283.6(TNNT1):c.135C>G (p.Pro45=)
|
|
|
|
NM_003283.6(TNNT1):c.139G>A (p.Val47Met)
|
rs1599884701
|
|
|
NM_003283.6(TNNT1):c.146C>G (p.Pro49Arg)
|
|
|
|
NM_003283.6(TNNT1):c.157C>T (p.Pro53Ser)
|
rs755269853
|
|
|
NM_003283.6(TNNT1):c.168A>G (p.Pro56=)
|
|
|
|
NM_003283.6(TNNT1):c.16G>A (p.Glu6Lys)
|
rs1599896616
|
|
|
NM_003283.6(TNNT1):c.174G>A (p.Gly58=)
|
rs1044922979
|
|
|
NM_003283.6(TNNT1):c.180C>T (p.Arg60=)
|
|
|
|
NM_003283.6(TNNT1):c.183T>G (p.Val61=)
|
rs750222246
|
|
|
NM_003283.6(TNNT1):c.192+9C>A
|
|
|
|
NM_003283.6(TNNT1):c.192T>G (p.Asp64Glu)
|
|
|
|
NM_003283.6(TNNT1):c.193-14C>T
|
|
|
|
NM_003283.6(TNNT1):c.193-3C>T
|
|
|
|
NM_003283.6(TNNT1):c.193-6C>T
|
rs762393569
|
|
|
NM_003283.6(TNNT1):c.200A>C (p.His67Pro)
|
rs1555858107
|
|
|
NM_003283.6(TNNT1):c.200A>G (p.His67Arg)
|
rs1555858107
|
|
|
NM_003283.6(TNNT1):c.207G>T (p.Lys69Asn)
|
rs2085449480
|
|
|
NM_003283.6(TNNT1):c.219A>G (p.Lys73=)
|
rs749449831
|
|
|
NM_003283.6(TNNT1):c.263A>G (p.Gln88Arg)
|
rs2147254988
|
|
|
NM_003283.6(TNNT1):c.26A>G (p.Tyr9Cys)
|
rs1449981150
|
|
|
NM_003283.6(TNNT1):c.301G>A (p.Glu101Lys)
|
|
|
|
NM_003283.6(TNNT1):c.304C>A (p.Arg102Ser)
|
rs774855200
|
|
|
NM_003283.6(TNNT1):c.309+15C>G
|
|
|
|
NM_003283.6(TNNT1):c.309+15C>T
|
|
|
|
NM_003283.6(TNNT1):c.309+19T>A
|
|
|
|
NM_003283.6(TNNT1):c.309+6C>T
|
rs932070035
|
|
|
NM_003283.6(TNNT1):c.309+8G>C
|
rs374839229
|
|
|
NM_003283.6(TNNT1):c.310-18T>C
|
|
|
|
NM_003283.6(TNNT1):c.310-20T>C
|
|
|
|
NM_003283.6(TNNT1):c.310-2A>T
|
|
|
|
NM_003283.6(TNNT1):c.311A>T (p.Glu104Val)
|
rs2085441049
|
|
|
NM_003283.6(TNNT1):c.319C>T (p.Arg107Trp)
|
rs755856894
|
|
|
NM_003283.6(TNNT1):c.31_32+1del
|
rs944152647
|
|
|
NM_003283.6(TNNT1):c.32+12A>G
|
rs2085573589
|
|
|
NM_003283.6(TNNT1):c.32+4A>T
|
rs780644788
|
|
|
NM_003283.6(TNNT1):c.32+5G>A
|
rs1555859876
|
|
|
NM_003283.6(TNNT1):c.32+8C>T
|
rs371750770
|
|
|
NM_003283.6(TNNT1):c.320G>A (p.Arg107Gln)
|
rs2147254128
|
|
|
NM_003283.6(TNNT1):c.327G>A (p.Glu109=)
|
|
|
|
NM_003283.6(TNNT1):c.33-12A>G
|
|
|
|
NM_003283.6(TNNT1):c.33-15C>G
|
rs992633695
|
|
|
NM_003283.6(TNNT1):c.33-1G>A
|
|
|
|
NM_003283.6(TNNT1):c.33-4G>A
|
rs2085570386
|
|
|
NM_003283.6(TNNT1):c.33-7T>G
|
rs771002524
|
|
|
NM_003283.6(TNNT1):c.336G>A (p.Glu112=)
|
|
|
|
NM_003283.6(TNNT1):c.345C>A (p.Arg115=)
|
rs1599882425
|
|
|
NM_003283.6(TNNT1):c.370C>T (p.Arg124Cys)
|
rs2085439112
|
|
|
NM_003283.6(TNNT1):c.376G>C (p.Ala126Pro)
|
|
|
|
NM_003283.6(TNNT1):c.387+13C>T
|
|
|
|
NM_003283.6(TNNT1):c.387+14_387+19del
|
|
|
|
NM_003283.6(TNNT1):c.387+1G>A
|
rs2147253798
|
|
|
NM_003283.6(TNNT1):c.387+5G>A
|
rs2085438435
|
|
|
NM_003283.6(TNNT1):c.388-11_388-8del
|
rs1555857020
|
|
|
NM_003283.6(TNNT1):c.388-16C>T
|
|
|
|
NM_003283.6(TNNT1):c.388-3C>G
|
|
|
|
NM_003283.6(TNNT1):c.388-5C>T
|
rs1301665220
|
|
|
NM_003283.6(TNNT1):c.388-9T>C
|
rs537892791
|
|
|
NM_003283.6(TNNT1):c.401G>A (p.Arg134Lys)
|
|
|
|
NM_003283.6(TNNT1):c.408A>G (p.Glu136=)
|
|
|
|
NM_003283.6(TNNT1):c.415G>T (p.Glu139Ter)
|
rs1250741190
|
|
|
NM_003283.6(TNNT1):c.428G>A (p.Arg143Gln)
|
|
|
|
NM_003283.6(TNNT1):c.42G>A (p.Pro14=)
|
|
|
|
NM_003283.6(TNNT1):c.435G>A (p.Glu145=)
|
|
|
|
NM_003283.6(TNNT1):c.452del (p.Lys151fs)
|
rs2085385176
|
|
|
NM_003283.6(TNNT1):c.46+10G>T
|
|
|
|
NM_003283.6(TNNT1):c.46+6T>C
|
|
|
|
NM_003283.6(TNNT1):c.460C>G (p.Leu154Val)
|
rs2085384859
|
|
|
NM_003283.6(TNNT1):c.46G>A (p.Glu16Lys)
|
rs533504444
|
|
|
NM_003283.6(TNNT1):c.46G>C (p.Glu16Gln)
|
rs533504444
|
|
|
NM_003283.6(TNNT1):c.47-11C>T
|
|
|
|
NM_003283.6(TNNT1):c.47-18C>T
|
|
|
|
NM_003283.6(TNNT1):c.47-9C>T
|
rs1319777845
|
|
|
NM_003283.6(TNNT1):c.501+1G>A
|
rs766934517
|
|
|
NM_003283.6(TNNT1):c.502-16C>T
|
|
|
|
NM_003283.6(TNNT1):c.502-18C>T
|
|
|
|
NM_003283.6(TNNT1):c.502-9dup
|
|
|
|
NM_003283.6(TNNT1):c.514C>T (p.Arg172Cys)
|
|
|
|
NM_003283.6(TNNT1):c.523C>G (p.Arg175Gly)
|
rs780372739
|
|
|
NM_003283.6(TNNT1):c.531G>A (p.Thr177=)
|
|
|
|
NM_003283.6(TNNT1):c.536G>A (p.Arg179Gln)
|
rs2147244813
|
|
|
NM_003283.6(TNNT1):c.54T>G (p.Ala18=)
|
|
|
|
NM_003283.6(TNNT1):c.554T>C (p.Ile185Thr)
|
rs970200564
|
|
|
NM_003283.6(TNNT1):c.569A>G (p.Lys190Arg)
|
rs2085359836
|
|
|
NM_003283.6(TNNT1):c.573G>T (p.Lys191Asn)
|
|
|
|
NM_003283.6(TNNT1):c.582C>A (p.Asp194Glu)
|
rs2147244624
|
|
|
NM_003283.6(TNNT1):c.584T>C (p.Ile195Thr)
|
|
|
|
NM_003283.6(TNNT1):c.585T>C (p.Ile195=)
|
rs2085359369
|
|
|
NM_003283.6(TNNT1):c.585T>G (p.Ile195Met)
|
rs2085359369
|
|
|
NM_003283.6(TNNT1):c.589T>G (p.Tyr197Asp)
|
|
|
|
NM_003283.6(TNNT1):c.5C>G (p.Ser2Trp)
|
rs1041234929
|
|
|
NM_003283.6(TNNT1):c.609C>G (p.Leu203=)
|
|
|
|
NM_003283.6(TNNT1):c.610C>T (p.Arg204Trp)
|
|
|
|
NM_003283.6(TNNT1):c.611+11T>G
|
|
|
|
NM_003283.6(TNNT1):c.611+12G>A
|
rs376456377
|
|
|
NM_003283.6(TNNT1):c.611+12G>T
|
rs376456377
|
|
|
NM_003283.6(TNNT1):c.611+20C>G
|
|
|
|
NM_003283.6(TNNT1):c.611+20C>T
|
|
|
|
NM_003283.6(TNNT1):c.612-15C>T
|
|
|
|
NM_003283.6(TNNT1):c.616C>G (p.Arg206Gly)
|
|
|
|
NM_003283.6(TNNT1):c.619T>C (p.Ser207Pro)
|
|
|
|
NM_003283.6(TNNT1):c.61dup (p.Glu21fs)
|
|
|
|
NM_003283.6(TNNT1):c.626G>A (p.Trp209Ter)
|
|
|
|
NM_003283.6(TNNT1):c.641A>G (p.Gln214Arg)
|
rs2147236699
|
|
|
NM_003283.6(TNNT1):c.642G>A (p.Gln214=)
|
|
|
|
NM_003283.6(TNNT1):c.647C>G (p.Ser216Cys)
|
rs1414740144
|
|
|
NM_003283.6(TNNT1):c.653C>G (p.Pro218Arg)
|
rs2085300916
|
|
|
NM_003283.6(TNNT1):c.658A>T (p.Arg220Trp)
|
rs113157106
|
|
|
NM_003283.6(TNNT1):c.695dup (p.Leu233fs)
|
rs2085299661
|
|
|
NM_003283.6(TNNT1):c.696G>A (p.Gln232=)
|
|
|
|
NM_003283.6(TNNT1):c.6G>C (p.Ser2=)
|
|
|
|
NM_003283.6(TNNT1):c.711G>T (p.Lys237Asn)
|
rs920784477
|
|
|
NM_003283.6(TNNT1):c.714C>T (p.Phe238=)
|
rs773910830
|
|
|
NM_003283.6(TNNT1):c.715G>A (p.Asp239Asn)
|
|
|
|
NM_003283.6(TNNT1):c.726G>A (p.Ala242=)
|
|
|
|
NM_003283.6(TNNT1):c.734A>T (p.Lys245Ile)
|
|
|
|
NM_003283.6(TNNT1):c.74-18C>A
|
|
|
|
NM_003283.6(TNNT1):c.74-5C>T
|
rs749168050
|
|
|
NM_003283.6(TNNT1):c.74-7_74-4del
|
|
|
|
NM_003283.6(TNNT1):c.74-8dup
|
rs1156241533
|
|
|
NM_003283.6(TNNT1):c.74-9C>T
|
|
|
|
NM_003283.6(TNNT1):c.746A>G (p.Tyr249Cys)
|
|
|
|
NM_003283.6(TNNT1):c.751-16T>A
|
rs77273500
|
|
|
NM_003283.6(TNNT1):c.751-4G>A
|
rs759088786
|
|
|
NM_003283.6(TNNT1):c.751-5C>T
|
rs192248377
|
|
|
NM_003283.6(TNNT1):c.751-6C>G
|
|
|
|
NM_003283.6(TNNT1):c.751-8del
|
|
|
|
NM_003283.6(TNNT1):c.764A>G (p.Tyr255Cys)
|
rs1599869703
|
|
|
NM_003283.6(TNNT1):c.78C>T (p.Pro26=)
|
|
|
|
NM_003283.6(TNNT1):c.78del (p.Glu27fs)
|
rs1224321111
|
|
|
NM_003283.6(TNNT1):c.792-12A>G
|
|
|
|
NM_003283.6(TNNT1):c.792-2A>G
|
rs1555855228
|
|
|
NM_003283.6(TNNT1):c.792-6C>G
|
|
|
|
NM_003283.6(TNNT1):c.798G>A (p.Lys266=)
|
|
|
|
NM_003283.6(TNNT1):c.799G>C (p.Gly267Arg)
|
|
|
|
NM_003283.6(TNNT1):c.804A>C (p.Ala268=)
|
rs1365147328
|
|
|
NM_003283.6(TNNT1):c.81A>T (p.Glu27Asp)
|
rs1267757904
|
|
|
NM_003283.6(TNNT1):c.822A>T (p.Gly274=)
|
|
|
|
NM_003283.6(TNNT1):c.89A>T (p.Glu30Val)
|
rs2147267125
|
|
|
NM_003283.6(TNNT1):c.93G>T (p.Pro31=)
|
rs2085553446
|
|
|
NM_003283.6(TNNT1):c.94G>T (p.Val32Leu)
|
rs779711295
|
|
|
NM_003319.4(TTN):c.13282+23498dup
|
rs727503644
|
|
|
NM_003319.4(TTN):c.20966-11dup
|
rs730880371
|
|
|
NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer)
|
rs727503559
|
|
|
NM_003319.4(TTN):c.63060_63061del (p.Thr21020_Cys21021insTer)
|
rs773840992
|
|
|
NM_004168.3(SDHA):c.-115-?_*280+?dup2390
|
|
|
|
NM_004168.3(SDHA):c.-115-?_1432+?dup1547
|
|
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
|
NM_004168.4(SDHA):c.1000G>T (p.Ala334Ser)
|
|
|
|
NM_004168.4(SDHA):c.1004A>C (p.Lys335Thr)
|
rs1560994846
|
|
|
NM_004168.4(SDHA):c.1005G>A (p.Lys335=)
|
rs1735559685
|
|
|
NM_004168.4(SDHA):c.1005G>C (p.Lys335Asn)
|
rs1735559685
|
|
|
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr)
|
rs1553999038
|
|
|
NM_004168.4(SDHA):c.1007A>C (p.Asp336Ala)
|
rs1579402533
|
|
|
NM_004168.4(SDHA):c.1008C>T (p.Asp336=)
|
|
|
|
NM_004168.4(SDHA):c.1009C>T (p.Leu337=)
|
|
|
|
NM_004168.4(SDHA):c.1012G>A (p.Ala338Thr)
|
rs2126577878
|
|
|
NM_004168.4(SDHA):c.1012G>C (p.Ala338Pro)
|
|
|
|
NM_004168.4(SDHA):c.1012del (p.Ala338fs)
|
rs1295239305
|
|
|
NM_004168.4(SDHA):c.1013C>G (p.Ala338Gly)
|
|
|
|
NM_004168.4(SDHA):c.1013C>T (p.Ala338Val)
|
rs1560994866
|
|
|
NM_004168.4(SDHA):c.1014G>T (p.Ala338=)
|
rs201341132
|
|
|
NM_004168.4(SDHA):c.1016C>G (p.Ser339Cys)
|
rs1553999043
|
|
|
NM_004168.4(SDHA):c.1019G>T (p.Arg340Ile)
|
rs1579402602
|
|
|
NM_004168.4(SDHA):c.1020A>G (p.Arg340=)
|
rs2126577996
|
|
|
NM_004168.4(SDHA):c.1022A>C (p.Asp341Ala)
|
rs1579402616
|
|
|
NM_004168.4(SDHA):c.1022A>G (p.Asp341Gly)
|
|
|
|
NM_004168.4(SDHA):c.1024G>A (p.Val342Met)
|
|
|
|
NM_004168.4(SDHA):c.1024G>C (p.Val342Leu)
|
rs1735562520
|
|
|
NM_004168.4(SDHA):c.1024GTG[1] (p.Val343del)
|
rs2126578027
|
|
|
NM_004168.4(SDHA):c.1026G>A (p.Val342=)
|
rs1060505004
|
|
|
NM_004168.4(SDHA):c.1027G>C (p.Val343Leu)
|
rs2126578052
|
|
|
NM_004168.4(SDHA):c.1027G>T (p.Val343Leu)
|
|
|
|
NM_004168.4(SDHA):c.1028T>A (p.Val343Glu)
|
rs1218116319
|
|
|
NM_004168.4(SDHA):c.1028T>C (p.Val343Ala)
|
|
|
|
NM_004168.4(SDHA):c.1029G>A (p.Val343=)
|
|
|
|
NM_004168.4(SDHA):c.102C>T (p.His34=)
|
rs2126539644
|
|
|
NM_004168.4(SDHA):c.1030T>G (p.Ser344Ala)
|
rs1735563330
|
|
|
NM_004168.4(SDHA):c.1031C>A (p.Ser344Tyr)
|
rs1735563548
|
|
|
NM_004168.4(SDHA):c.1032_1033del (p.Arg345fs)
|
rs2126578081
|
|
|
NM_004168.4(SDHA):c.1033C>G (p.Arg345Gly)
|
|
|
|
NM_004168.4(SDHA):c.1034G>A (p.Arg345Gln)
|
rs1483236652
|
|
|
NM_004168.4(SDHA):c.1035del (p.Ser346fs)
|
rs2126578126
|
|
|
NM_004168.4(SDHA):c.1037C>A (p.Ser346Tyr)
|
|
|
|
NM_004168.4(SDHA):c.1037C>G (p.Ser346Cys)
|
rs1041948
|
|
|
NM_004168.4(SDHA):c.1037_1038delinsTG (p.Ser346Leu)
|
rs1735564312
|
|
|
NM_004168.4(SDHA):c.1037_1038inv (p.Ser346Trp)
|
|
|
|
NM_004168.4(SDHA):c.1038C>A (p.Ser346=)
|
rs1041949
|
|
|
NM_004168.4(SDHA):c.1038C>T (p.Ser346=)
|
rs1041949
|
|
|
NM_004168.4(SDHA):c.1039A>C (p.Met347Leu)
|
|
|
|
NM_004168.4(SDHA):c.1039A>G (p.Met347Val)
|
rs1245387180
|
|
|
NM_004168.4(SDHA):c.1040T>C (p.Met347Thr)
|
rs1553999054
|
|
|
NM_004168.4(SDHA):c.1042A>G (p.Thr348Ala)
|
rs371484111
|
|
|
NM_004168.4(SDHA):c.1042A>T (p.Thr348Ser)
|
rs371484111
|
|
|
NM_004168.4(SDHA):c.1043C>G (p.Thr348Ser)
|
|
|
|
NM_004168.4(SDHA):c.1044T>A (p.Thr348=)
|
rs1553999055
|
|
|
NM_004168.4(SDHA):c.1045C>T (p.Leu349=)
|
|
|
|
NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs)
|
|
|
|
NM_004168.4(SDHA):c.1053C>A (p.Ile351=)
|
rs2126578352
|
|
|
NM_004168.4(SDHA):c.1055G>T (p.Arg352Leu)
|
rs199844384
|
|
|
NM_004168.4(SDHA):c.1056A>C (p.Arg352=)
|
rs779804839
|
|
|
NM_004168.4(SDHA):c.1057G>A (p.Glu353Lys)
|
rs1328911130
|
|
|
NM_004168.4(SDHA):c.1058A>C (p.Glu353Ala)
|
rs2126578405
|
|
|
NM_004168.4(SDHA):c.1059A>G (p.Glu353=)
|
|
|
|
NM_004168.4(SDHA):c.1060G>A (p.Gly354Arg)
|
rs746611221
|
|
|
NM_004168.4(SDHA):c.1060G>C (p.Gly354Arg)
|
rs746611221
|
|
|
NM_004168.4(SDHA):c.1061G>A (p.Gly354Glu)
|
rs2126578424
|
|
|
NM_004168.4(SDHA):c.1062A>T (p.Gly354=)
|
|
|
|
NM_004168.4(SDHA):c.1063A>T (p.Arg355Ter)
|
|
|
|
NM_004168.4(SDHA):c.1064+1G>T
|
rs1579402807
|
|
|
NM_004168.4(SDHA):c.1064+2T>A
|
rs1553999072
|
|
|
NM_004168.4(SDHA):c.1064+2T>C
|
|
|
|
NM_004168.4(SDHA):c.1064+2T>G
|
rs1553999072
|
|
|
NM_004168.4(SDHA):c.1064+3G>A
|
rs1553999078
|
|
|
NM_004168.4(SDHA):c.1064+3G>C
|
|
|
|
NM_004168.4(SDHA):c.1064+4C>A
|
rs768276870
|
|
|
NM_004168.4(SDHA):c.1064+4C>G
|
|
|
|
NM_004168.4(SDHA):c.1064+5G>C
|
rs200021115
|
|
|
NM_004168.4(SDHA):c.1064+5GT[3]
|
rs2126578488
|
|
|
NM_004168.4(SDHA):c.1064+6T>C
|
|
|
|
NM_004168.4(SDHA):c.1064+7G>A
|
|
|
|
NM_004168.4(SDHA):c.1064+7G>T
|
rs2126578502
|
|
|
NM_004168.4(SDHA):c.1064+9G>A
|
|
|
|
NM_004168.4(SDHA):c.1064G>C (p.Arg355Thr)
|
|
|
|
NM_004168.4(SDHA):c.1064G>T (p.Arg355Ile)
|
rs1735568346
|
|
|
NM_004168.4(SDHA):c.1065-10G>C
|
rs2126584071
|
|
|
NM_004168.4(SDHA):c.1065-11T>C
|
|
|
|
NM_004168.4(SDHA):c.1065-12C>G
|
|
|
|
NM_004168.4(SDHA):c.1065-12_1065-11del
|
|
|
|
NM_004168.4(SDHA):c.1065-13T>C
|
|
|
|
NM_004168.4(SDHA):c.1065-17G>C
|
rs1268945057
|
|
|
NM_004168.4(SDHA):c.1065-17_1065-15dup
|
|
|
|
NM_004168.4(SDHA):c.1065-18G>C
|
|
|
|
NM_004168.4(SDHA):c.1065-19T>A
|
|
|
|
NM_004168.4(SDHA):c.1065-19T>C
|
rs1735682737
|
|
|
NM_004168.4(SDHA):c.1065-20A>G
|
|
|
|
NM_004168.4(SDHA):c.1065-5A>G
|
rs1579406152
|
|
|
NM_004168.4(SDHA):c.1065-6T>C
|
rs1579406151
|
|
|
NM_004168.4(SDHA):c.1065-8C>G
|
|
|
|
NM_004168.4(SDHA):c.1065A>G (p.Arg355=)
|
rs2126584114
|
|
|
NM_004168.4(SDHA):c.1069T>C (p.Cys357Arg)
|
rs1735685410
|
|
|
NM_004168.4(SDHA):c.106A>G (p.Thr36Ala)
|
rs750500173
|
|
|
NM_004168.4(SDHA):c.106A>T (p.Thr36Ser)
|
rs750500173
|
|
|
NM_004168.4(SDHA):c.1070G>A (p.Cys357Tyr)
|
rs1560996433
|
|
|
NM_004168.4(SDHA):c.1071T>C (p.Cys357=)
|
rs1553999410
|
|
|
NM_004168.4(SDHA):c.1073G>A (p.Gly358Asp)
|
|
|
|
NM_004168.4(SDHA):c.1074C>T (p.Gly358=)
|
rs1421396049
|
|
|
NM_004168.4(SDHA):c.1078G>C (p.Glu360Gln)
|
|
|
|
NM_004168.4(SDHA):c.1079A>G (p.Glu360Gly)
|
|
|
|
NM_004168.4(SDHA):c.1080G>T (p.Glu360Asp)
|
|
|
|
NM_004168.4(SDHA):c.1083A>C (p.Lys361Asn)
|
|
|
|
NM_004168.4(SDHA):c.1083A>G (p.Lys361=)
|
rs1579406203
|
|
|
NM_004168.4(SDHA):c.1083_1084insTCT (p.Lys361_Asp362insSer)
|
rs1735687291
|
|
|
NM_004168.4(SDHA):c.1084G>T (p.Asp362Tyr)
|
rs2126584224
|
|
|
NM_004168.4(SDHA):c.1086T>C (p.Asp362=)
|
rs2126584236
|
|
|
NM_004168.4(SDHA):c.1087C>G (p.His363Asp)
|
rs1553999417
|
|
|
NM_004168.4(SDHA):c.1087C>T (p.His363Tyr)
|
rs1553999417
|
|
|
NM_004168.4(SDHA):c.1088A>G (p.His363Arg)
|
|
|
|
NM_004168.4(SDHA):c.1089C>A (p.His363Gln)
|
rs368488126
|
|
|
NM_004168.4(SDHA):c.108T>C (p.Thr36=)
|
rs1301747916
|
|
|
NM_004168.4(SDHA):c.1090G>C (p.Val364Leu)
|
rs372738835
|
|
|
NM_004168.4(SDHA):c.1091T>C (p.Val364Ala)
|
|
|
|
NM_004168.4(SDHA):c.1092C>G (p.Val364=)
|
rs886060515
|
|
|
NM_004168.4(SDHA):c.1096C>T (p.Leu366=)
|
rs1305056679
|
|
|
NM_004168.4(SDHA):c.1098G>C (p.Leu366=)
|
rs1346189100
|
|
|
NM_004168.4(SDHA):c.1099C>T (p.Gln367Ter)
|
|
|
|
NM_004168.4(SDHA):c.10G>A (p.Val4Ile)
|
rs778069799
|
|
|
NM_004168.4(SDHA):c.1101G>A (p.Gln367=)
|
|
|
|
NM_004168.4(SDHA):c.1101G>C (p.Gln367His)
|
|
|
|
NM_004168.4(SDHA):c.1103T>C (p.Leu368Pro)
|
rs2126584397
|
|
|
NM_004168.4(SDHA):c.1103_1105del (p.Leu368del)
|
rs1735689664
|
|
|
NM_004168.4(SDHA):c.1104G>A (p.Leu368=)
|
rs2126584401
|
|
|
NM_004168.4(SDHA):c.1105C>G (p.His369Asp)
|
|
|
|
NM_004168.4(SDHA):c.1105C>T (p.His369Tyr)
|
rs2126584410
|
|
|
NM_004168.4(SDHA):c.1106A>T (p.His369Leu)
|
|
|
|
NM_004168.4(SDHA):c.1107C>A (p.His369Gln)
|
rs1268877544
|
|
|
NM_004168.4(SDHA):c.1108C>A (p.His370Asn)
|
rs1060503704
|
|
|
NM_004168.4(SDHA):c.1108C>T (p.His370Tyr)
|
rs1060503704
|
|
|
NM_004168.4(SDHA):c.1111C>G (p.Leu371Val)
|
rs1735690368
|
|
|
NM_004168.4(SDHA):c.1111C>T (p.Leu371=)
|
rs1735690368
|
|
|
NM_004168.4(SDHA):c.1113A>G (p.Leu371=)
|
rs2126584480
|
|
|
NM_004168.4(SDHA):c.1114C>T (p.Pro372Ser)
|
|
|
|
NM_004168.4(SDHA):c.1115C>T (p.Pro372Leu)
|
rs141493530
|
|
|
NM_004168.4(SDHA):c.1116T>G (p.Pro372=)
|
rs1735691014
|
|
|
NM_004168.4(SDHA):c.1119A>C (p.Pro373=)
|
rs1428505412
|
|
|
NM_004168.4(SDHA):c.1119A>G (p.Pro373=)
|
rs1428505412
|
|
|
NM_004168.4(SDHA):c.111T>C (p.Val37=)
|
|
|
|
NM_004168.4(SDHA):c.1120G>C (p.Glu374Gln)
|
|
|
|
NM_004168.4(SDHA):c.1122G>A (p.Glu374=)
|
|
|
|
NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter)
|
rs1735691933
|
|
|
NM_004168.4(SDHA):c.1125G>T (p.Gln375His)
|
|
|
|
NM_004168.4(SDHA):c.1126C>T (p.Leu376=)
|
rs1579406388
|
|
|
NM_004168.4(SDHA):c.1129G>C (p.Ala377Pro)
|
rs1735692451
|
|
|
NM_004168.4(SDHA):c.112G>A (p.Asp38Asn)
|
rs1553997174
|
|
|
NM_004168.4(SDHA):c.112G>C (p.Asp38His)
|
rs1553997174
|
|
|
NM_004168.4(SDHA):c.1130C>A (p.Ala377Asp)
|
rs1553999443
|
|
|
NM_004168.4(SDHA):c.1130C>T (p.Ala377Val)
|
rs1553999443
|
|
|
NM_004168.4(SDHA):c.1131C>T (p.Ala377=)
|
rs2126584661
|
|
|
NM_004168.4(SDHA):c.1133dup (p.Arg379fs)
|
|
|
|
NM_004168.4(SDHA):c.1134G>C (p.Thr378=)
|
rs370002515
|
|
|
NM_004168.4(SDHA):c.1136G>T (p.Arg379Leu)
|
rs770719847
|
|
|
NM_004168.4(SDHA):c.1138C>A (p.Leu380Met)
|
rs1735694280
|
|
|
NM_004168.4(SDHA):c.1138C>T (p.Leu380=)
|
|
|
|
NM_004168.4(SDHA):c.1138del (p.Leu380fs)
|
|
|
|
NM_004168.4(SDHA):c.1139T>G (p.Leu380Arg)
|
|
|
|
NM_004168.4(SDHA):c.1140G>A (p.Leu380=)
|
rs146348714
|
|
|
NM_004168.4(SDHA):c.1141C>G (p.Pro381Ala)
|
rs1735694889
|
|
|
NM_004168.4(SDHA):c.1143T>C (p.Pro381=)
|
rs1735695108
|
|
|
NM_004168.4(SDHA):c.1144_1149dup (p.Gly382_Ile383dup)
|
rs2126584776
|
|
|
NM_004168.4(SDHA):c.1145G>A (p.Gly382Asp)
|
rs373067620
|
|
|
NM_004168.4(SDHA):c.1147A>G (p.Ile383Val)
|
rs2126584806
|
|
|
NM_004168.4(SDHA):c.114T>C (p.Asp38=)
|
|
|
|
NM_004168.4(SDHA):c.114T>G (p.Asp38Glu)
|
|
|
|
NM_004168.4(SDHA):c.1152A>T (p.Ser384=)
|
rs2126584840
|
|
|
NM_004168.4(SDHA):c.1156A>G (p.Thr386Ala)
|
rs1553999461
|
|
|
NM_004168.4(SDHA):c.1158A>C (p.Thr386=)
|
rs2126584886
|
|
|
NM_004168.4(SDHA):c.1159G>A (p.Ala387Thr)
|
rs2126584893
|
|
|
NM_004168.4(SDHA):c.115G>A (p.Gly39Arg)
|
|
|
|
NM_004168.4(SDHA):c.1160C>T (p.Ala387Val)
|
|
|
|
NM_004168.4(SDHA):c.1161C>T (p.Ala387=)
|
|
|
|
NM_004168.4(SDHA):c.1162A>T (p.Met388Leu)
|
rs1579406553
|
|
|
NM_004168.4(SDHA):c.1163T>C (p.Met388Thr)
|
rs1419241279
|
|
|
NM_004168.4(SDHA):c.1167C>T (p.Ile389=)
|
rs2126584963
|
|
|
NM_004168.4(SDHA):c.116G>T (p.Gly39Val)
|
|
|
|
NM_004168.4(SDHA):c.1170C>A (p.Phe390Leu)
|
rs35277230
|
|
|
NM_004168.4(SDHA):c.1171G>C (p.Ala391Pro)
|
rs376597185
|
|
|
NM_004168.4(SDHA):c.1171G>T (p.Ala391Ser)
|
rs376597185
|
|
|
NM_004168.4(SDHA):c.1172C>G (p.Ala391Gly)
|
|
|
|
NM_004168.4(SDHA):c.1173T>C (p.Ala391=)
|
rs1579406627
|
|
|
NM_004168.4(SDHA):c.1174G>A (p.Gly392Ser)
|
|
|
|
NM_004168.4(SDHA):c.1175G>A (p.Gly392Asp)
|
|
|
|
NM_004168.4(SDHA):c.1176C>A (p.Gly392=)
|
rs1041950
|
|
|
NM_004168.4(SDHA):c.1177G>A (p.Val393Met)
|
rs372989971
|
|
|
NM_004168.4(SDHA):c.1177G>C (p.Val393Leu)
|
rs372989971
|
|
|
NM_004168.4(SDHA):c.1177G>T (p.Val393Leu)
|
rs372989971
|
|
|
NM_004168.4(SDHA):c.1182C>A (p.Asp394Glu)
|
|
|
|
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile)
|
rs748683825
|
|
|
NM_004168.4(SDHA):c.1185C>G (p.Val395=)
|
rs2126585130
|
|
|
NM_004168.4(SDHA):c.1190A>G (p.Lys397Arg)
|
rs745798689
|
|
|
NM_004168.4(SDHA):c.1190A>T (p.Lys397Met)
|
|
|
|
NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn)
|
rs1035794713
|
|
|
NM_004168.4(SDHA):c.1192_1193delinsAT (p.Glu398Met)
|
|
|
|
NM_004168.4(SDHA):c.1194G>T (p.Glu398Asp)
|
|
|
|
NM_004168.4(SDHA):c.1195C>A (p.Pro399Thr)
|
|
|
|
NM_004168.4(SDHA):c.1195C>T (p.Pro399Ser)
|
rs2126585242
|
|
|
NM_004168.4(SDHA):c.1197G>T (p.Pro399=)
|
rs771919335
|
|
|
NM_004168.4(SDHA):c.1199T>A (p.Ile400Asn)
|
rs876660886
|
|
|
NM_004168.4(SDHA):c.119A>G (p.Asn40Ser)
|
rs1734833856
|
|
|
NM_004168.4(SDHA):c.11T>A (p.Val4Asp)
|
|
|
|
NM_004168.4(SDHA):c.11T>G (p.Val4Gly)
|
rs1579369675
|
|
|
NM_004168.4(SDHA):c.1200C>T (p.Ile400=)
|
rs748383004
|
|
|
NM_004168.4(SDHA):c.1201C>T (p.Pro401Ser)
|
rs1560996818
|
|
|
NM_004168.4(SDHA):c.1203T>C (p.Pro401=)
|
rs1553999484
|
|
|
NM_004168.4(SDHA):c.1203T>G (p.Pro401=)
|
|
|
|
NM_004168.4(SDHA):c.1204G>A (p.Val402Ile)
|
|
|
|
NM_004168.4(SDHA):c.1204G>C (p.Val402Leu)
|
rs2126585344
|
|
|
NM_004168.4(SDHA):c.1205T>G (p.Val402Gly)
|
rs2126585353
|
|
|
NM_004168.4(SDHA):c.1206C>G (p.Val402=)
|
|
|
|
NM_004168.4(SDHA):c.1206C>T (p.Val402=)
|
rs1183961449
|
|
|
NM_004168.4(SDHA):c.1207C>T (p.Leu403Phe)
|
|
|
|
NM_004168.4(SDHA):c.1209C>A (p.Leu403=)
|
rs2126585389
|
|
|
NM_004168.4(SDHA):c.1209C>T (p.Leu403=)
|
|
|
|
NM_004168.4(SDHA):c.120C>A (p.Asn40Lys)
|
rs1579379803
|
|
|
NM_004168.4(SDHA):c.120C>G (p.Asn40Lys)
|
rs1579379803
|
|
|
NM_004168.4(SDHA):c.120C>T (p.Asn40=)
|
rs1579379803
|
|
|
NM_004168.4(SDHA):c.1211C>T (p.Pro404Leu)
|
|
|
|
NM_004168.4(SDHA):c.1212C>A (p.Pro404=)
|
rs1579406812
|
|
|
NM_004168.4(SDHA):c.1214C>A (p.Thr405Asn)
|
rs1553999491
|
|
|
NM_004168.4(SDHA):c.1214C>T (p.Thr405Ile)
|
|
|
|
NM_004168.4(SDHA):c.1215C>A (p.Thr405=)
|
rs762888704
|
|
|
NM_004168.4(SDHA):c.1216G>A (p.Val406Met)
|
rs1258201485
|
|
|
NM_004168.4(SDHA):c.1220A>T (p.His407Leu)
|
rs374087393
|
|
|
NM_004168.4(SDHA):c.1221T>C (p.His407=)
|
rs2126585516
|
|
|
NM_004168.4(SDHA):c.1225A>G (p.Asn409Asp)
|
|
|
|
NM_004168.4(SDHA):c.1225A>T (p.Asn409Tyr)
|
|
|
|
NM_004168.4(SDHA):c.1227C>T (p.Asn409=)
|
rs2126585562
|
|
|
NM_004168.4(SDHA):c.1228A>G (p.Met410Val)
|
rs876658852
|
|
|
NM_004168.4(SDHA):c.1229T>C (p.Met410Thr)
|
rs1553999505
|
|
|
NM_004168.4(SDHA):c.1229T>G (p.Met410Arg)
|
|
|
|
NM_004168.4(SDHA):c.1230G>C (p.Met410Ile)
|
rs1735707028
|
|
|
NM_004168.4(SDHA):c.1231G>A (p.Gly411Ser)
|
rs2126585602
|
|
|
NM_004168.4(SDHA):c.1233C>A (p.Gly411=)
|
rs376530094
|
|
|
NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys)
|
rs768055345
|
|
|
NM_004168.4(SDHA):c.1236C>T (p.Gly412=)
|
|
|
|
NM_004168.4(SDHA):c.1237A>C (p.Ile413Leu)
|
|
|
|
NM_004168.4(SDHA):c.123G>A (p.Lys41=)
|
rs1553997185
|
|
|
NM_004168.4(SDHA):c.1240C>G (p.Pro414Ala)
|
rs1735708028
|
|
|
NM_004168.4(SDHA):c.1240C>T (p.Pro414Ser)
|
rs1735708028
|
|
|
NM_004168.4(SDHA):c.1241CCA[1] (p.Thr415del)
|
rs2126585682
|
|
|
NM_004168.4(SDHA):c.1243A>G (p.Thr415Ala)
|
rs2126585699
|
|
|
NM_004168.4(SDHA):c.1245C>G (p.Thr415=)
|
rs2126585715
|
|
|
NM_004168.4(SDHA):c.1245dup (p.Asn416fs)
|
rs2126585710
|
|
|
NM_004168.4(SDHA):c.1247A>G (p.Asn416Ser)
|
|
|
|
NM_004168.4(SDHA):c.1247A>T (p.Asn416Ile)
|
rs1409603646
|
|
|
NM_004168.4(SDHA):c.1248C>G (p.Asn416Lys)
|
|
|
|
NM_004168.4(SDHA):c.124_125dup (p.Ala43fs)
|
rs1385076821
|
|
|
NM_004168.4(SDHA):c.1252A>G (p.Lys418Glu)
|
|
|
|
NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg)
|
rs1735709331
|
|
|
NM_004168.4(SDHA):c.1257G>T (p.Gly419=)
|
rs753410011
|
|
|
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter)
|
rs1579407009
|
|
|
NM_004168.4(SDHA):c.1259A>G (p.Gln420Arg)
|
rs1735709829
|
|
|
NM_004168.4(SDHA):c.1260+10C>T
|
rs1300688046
|
|
|
NM_004168.4(SDHA):c.1260+12G>A
|
|
|
|
NM_004168.4(SDHA):c.1260+13G>C
|
|
|
|
NM_004168.4(SDHA):c.1260+14C>T
|
rs1237313111
|
|
|
NM_004168.4(SDHA):c.1260+16C>T
|
rs2126585898
|
|
|
NM_004168.4(SDHA):c.1260+17C>T
|
rs750384205
|
|
|
NM_004168.4(SDHA):c.1260+18T>A
|
|
|
|
NM_004168.4(SDHA):c.1260+18T>C
|
|
|
|
NM_004168.4(SDHA):c.1260+19C>T
|
rs1735711604
|
|
|
NM_004168.4(SDHA):c.1260+1G>A
|
rs1735710012
|
|
|
NM_004168.4(SDHA):c.1260+23dup
|
|
|
|
NM_004168.4(SDHA):c.1260+2T>A
|
rs1735710103
|
|
|
NM_004168.4(SDHA):c.1260+3G>T
|
rs2126585827
|
|
|
NM_004168.4(SDHA):c.1260+6G>A
|
rs2126585843
|
|
|
NM_004168.4(SDHA):c.1260+8T>A
|
rs1325588204
|
|
|
NM_004168.4(SDHA):c.1260+8T>G
|
|
|
|
NM_004168.4(SDHA):c.1260+9G>T
|
rs1060505003
|
|
|
NM_004168.4(SDHA):c.1260G>A (p.Gln420=)
|
|
|
|
NM_004168.4(SDHA):c.1261-10C>G
|
rs1579409244
|
|
|
NM_004168.4(SDHA):c.1261-10C>T
|
rs1579409244
|
|
|
NM_004168.4(SDHA):c.1261-10del
|
|
|
|
NM_004168.4(SDHA):c.1261-11C>A
|
|
|
|
NM_004168.4(SDHA):c.1261-11C>G
|
rs2126589164
|
|
|
NM_004168.4(SDHA):c.1261-14C>T
|
|
|
|
NM_004168.4(SDHA):c.1261-16A>G
|
|
|
|
NM_004168.4(SDHA):c.1261-16A>T
|
rs1170006255
|
|
|
NM_004168.4(SDHA):c.1261-17A>T
|
|
|
|
NM_004168.4(SDHA):c.1261-19G>T
|
|
|
|
NM_004168.4(SDHA):c.1261-1G>A
|
rs1735779936
|
|
|
NM_004168.4(SDHA):c.1261-2A>G
|
rs1579409293
|
|
|
NM_004168.4(SDHA):c.1261-3C>T
|
rs1553999705
|
|
|
NM_004168.4(SDHA):c.1261-4A>G
|
rs1553999703
|
|
|
NM_004168.4(SDHA):c.1261-4A>T
|
rs1553999703
|
|
|
NM_004168.4(SDHA):c.1261-6_1261-5insGAA
|
|
|
|
NM_004168.4(SDHA):c.1261-7T>A
|
rs1423583851
|
|
|
NM_004168.4(SDHA):c.1261-7T>G
|
rs1423583851
|
|
|
NM_004168.4(SDHA):c.1261-9T>A
|
rs1553999698
|
|
|
NM_004168.4(SDHA):c.1261-9T>C
|
rs1553999698
|
|
|
NM_004168.4(SDHA):c.1263C>T (p.Val421=)
|
rs2126589252
|
|
|
NM_004168.4(SDHA):c.126G>A (p.Arg42=)
|
rs2126539845
|
|
|
NM_004168.4(SDHA):c.1270C>T (p.His424Tyr)
|
|
|
|
NM_004168.4(SDHA):c.1271A>G (p.His424Arg)
|
rs1579409312
|
|
|
NM_004168.4(SDHA):c.1272C>G (p.His424Gln)
|
rs754805626
|
|
|
NM_004168.4(SDHA):c.1273G>A (p.Val425Met)
|
rs201822097
|
|
|
NM_004168.4(SDHA):c.1273G>T (p.Val425Leu)
|
rs201822097
|
|
|
NM_004168.4(SDHA):c.1277A>G (p.Asn426Ser)
|
rs1060503725
|
|
|
NM_004168.4(SDHA):c.1278T>C (p.Asn426=)
|
rs2126589395
|
|
|
NM_004168.4(SDHA):c.1280G>T (p.Gly427Val)
|
rs1735782215
|
|
|
NM_004168.4(SDHA):c.1282C>G (p.Gln428Glu)
|
|
|
|
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
|
|
|
|
NM_004168.4(SDHA):c.1284G>C (p.Gln428His)
|
rs1735782951
|
|
|
NM_004168.4(SDHA):c.1285G>A (p.Asp429Asn)
|
rs988419580
|
|
|
NM_004168.4(SDHA):c.1286A>T (p.Asp429Val)
|
|
|
|
NM_004168.4(SDHA):c.1287T>G (p.Asp429Glu)
|
|
|
|
NM_004168.4(SDHA):c.1289A>G (p.Gln430Arg)
|
|
|
|
NM_004168.4(SDHA):c.128C>T (p.Ala43Val)
|
|
|
|
NM_004168.4(SDHA):c.1290G>A (p.Gln430=)
|
rs772728779
|
|
|
NM_004168.4(SDHA):c.1291A>G (p.Ile431Val)
|
rs1579409384
|
|
|
NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr)
|
rs776188923
|
|
|
NM_004168.4(SDHA):c.1293T>C (p.Ile431=)
|
rs1553999716
|
|
|
NM_004168.4(SDHA):c.1294G>A (p.Val432Met)
|
rs2126589526
|
|
|
NM_004168.4(SDHA):c.1295T>C (p.Val432Ala)
|
rs1490844767
|
|
|
NM_004168.4(SDHA):c.1296G>A (p.Val432=)
|
|
|
|
NM_004168.4(SDHA):c.1296G>T (p.Val432=)
|
rs1223308548
|
|
|
NM_004168.4(SDHA):c.1297C>T (p.Pro433Ser)
|
rs1560998056
|
|
|
NM_004168.4(SDHA):c.12C>T (p.Val4=)
|
rs749406988
|
|
|
NM_004168.4(SDHA):c.1300G>C (p.Gly434Arg)
|
rs529198317
|
|
|
NM_004168.4(SDHA):c.1302C>T (p.Gly434=)
|
rs1579409486
|
|
|
NM_004168.4(SDHA):c.1304T>A (p.Leu435Gln)
|
rs1579409500
|
|
|
NM_004168.4(SDHA):c.1304T>C (p.Leu435Pro)
|
rs1579409500
|
|
|
NM_004168.4(SDHA):c.1304T>G (p.Leu435Arg)
|
rs1579409500
|
|
|
NM_004168.4(SDHA):c.1305G>A (p.Leu435=)
|
rs35964044
|
|
|
NM_004168.4(SDHA):c.1305G>C (p.Leu435=)
|
rs35964044
|
|
|
NM_004168.4(SDHA):c.1309G>A (p.Ala437Thr)
|
rs1553999731
|
|
|
NM_004168.4(SDHA):c.130T>A (p.Ser44Thr)
|
|
|
|
NM_004168.4(SDHA):c.1313G>A (p.Cys438Tyr)
|
|
|
|
NM_004168.4(SDHA):c.1313G>C (p.Cys438Ser)
|
rs1424809160
|
|
|
NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe)
|
rs1424809160
|
|
|
NM_004168.4(SDHA):c.1315G>A (p.Gly439Arg)
|
rs1579409601
|
|
|
NM_004168.4(SDHA):c.1316G>A (p.Gly439Glu)
|
rs374086655
|
|
|
NM_004168.4(SDHA):c.1316_1330dup (p.Gly439_Cys443dup)
|
rs768469627
|
|
|
NM_004168.4(SDHA):c.1318G>A (p.Glu440Lys)
|
rs1735789566
|
|
|
NM_004168.4(SDHA):c.1319A>C (p.Glu440Ala)
|
|
|
|
NM_004168.4(SDHA):c.1319A>G (p.Glu440Gly)
|
rs1735789704
|
|
|
NM_004168.4(SDHA):c.1319A>T (p.Glu440Val)
|
rs1735789704
|
|
|
NM_004168.4(SDHA):c.131C>A (p.Ser44Tyr)
|
rs1734835164
|
|
|
NM_004168.4(SDHA):c.131C>G (p.Ser44Cys)
|
|
|
|
NM_004168.4(SDHA):c.131C>T (p.Ser44Phe)
|
rs1734835164
|
|
|
NM_004168.4(SDHA):c.1320G>A (p.Glu440=)
|
rs2126589773
|
|
|
NM_004168.4(SDHA):c.1320G>C (p.Glu440Asp)
|
|
|
|
NM_004168.4(SDHA):c.1321G>C (p.Ala441Pro)
|
|
|
|
NM_004168.4(SDHA):c.1323C>G (p.Ala441=)
|
rs751561561
|
|
|
NM_004168.4(SDHA):c.1324G>T (p.Ala442Ser)
|
rs754893758
|
|
|
NM_004168.4(SDHA):c.1325C>T (p.Ala442Val)
|
|
|
|
NM_004168.4(SDHA):c.1326C>T (p.Ala442=)
|
rs2126589832
|
|
|
NM_004168.4(SDHA):c.1327T>C (p.Cys443Arg)
|
rs2126589848
|
|
|
NM_004168.4(SDHA):c.1329T>C (p.Cys443=)
|
rs2126589870
|
|
|
NM_004168.4(SDHA):c.132T>A (p.Ser44=)
|
|
|
|
NM_004168.4(SDHA):c.1330G>A (p.Ala444Thr)
|
|
|
|
NM_004168.4(SDHA):c.1330_1331delinsTT (p.Ala444Phe)
|
rs1735790227
|
|
|
NM_004168.4(SDHA):c.1332C>G (p.Ala444=)
|
rs1060505011
|
|
|
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu)
|
rs1296066077
|
|
|
NM_004168.4(SDHA):c.1335G>C (p.Ser445=)
|
|
|
|
NM_004168.4(SDHA):c.1335G>T (p.Ser445=)
|
rs200223188
|
|
|
NM_004168.4(SDHA):c.1336G>A (p.Val446Ile)
|
|
|
|
NM_004168.4(SDHA):c.1339C>T (p.His447Tyr)
|
rs2126589966
|
|
|
NM_004168.4(SDHA):c.133G>C (p.Ala45Pro)
|
rs140736646
|
|
|
NM_004168.4(SDHA):c.1340A>C (p.His447Pro)
|
rs779151375
|
|
|
NM_004168.4(SDHA):c.1341T>C (p.His447=)
|
rs2126589989
|
|
|
NM_004168.4(SDHA):c.1342G>A (p.Gly448Ser)
|
rs1064795863
|
|
|
NM_004168.4(SDHA):c.1344T>A (p.Gly448=)
|
|
|
|
NM_004168.4(SDHA):c.1344T>C (p.Gly448=)
|
rs551497992
|
|
|
NM_004168.4(SDHA):c.1345G>A (p.Ala449Thr)
|
rs1485193902
|
|
|
NM_004168.4(SDHA):c.1345G>C (p.Ala449Pro)
|
|
|
|
NM_004168.4(SDHA):c.1346C>G (p.Ala449Gly)
|
rs201139275
|
|
|
NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser)
|
rs1579409723
|
|
|
NM_004168.4(SDHA):c.134C>T (p.Ala45Val)
|
rs1553997190
|
|
|
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser)
|
rs1553999752
|
|
|
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys)
|
rs1553999752
|
|
|
NM_004168.4(SDHA):c.1353C>T (p.Arg451=)
|
rs555342133
|
|
|
NM_004168.4(SDHA):c.1354C>T (p.Leu452Phe)
|
rs1064796477
|
|
|
NM_004168.4(SDHA):c.1354del (p.Leu452fs)
|
|
|
|
NM_004168.4(SDHA):c.1355T>C (p.Leu452Pro)
|
rs1735794275
|
|
|
NM_004168.4(SDHA):c.1359G>A (p.Gly453=)
|
|
|
|
NM_004168.4(SDHA):c.1360G>A (p.Ala454Thr)
|
rs1057517550
|
|
|
NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser)
|
rs1057517550
|
|
|
NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu)
|
rs1553999766
|
|
|
NM_004168.4(SDHA):c.1365C>T (p.Asn455=)
|
rs1579409853
|
|
|
NM_004168.4(SDHA):c.1366T>G (p.Ser456Ala)
|
|
|
|
NM_004168.4(SDHA):c.1367C>G (p.Ser456Trp)
|
|
|
|
NM_004168.4(SDHA):c.1368G>T (p.Ser456=)
|
|
|
|
NM_004168.4(SDHA):c.1370T>A (p.Leu457His)
|
rs1579409887
|
|
|
NM_004168.4(SDHA):c.1371C>G (p.Leu457=)
|
rs75091805
|
|
|
NM_004168.4(SDHA):c.1374G>A (p.Leu458=)
|
rs1735797053
|
|
|
NM_004168.4(SDHA):c.1375G>C (p.Asp459His)
|
rs1735797208
|
|
|
NM_004168.4(SDHA):c.1376A>G (p.Asp459Gly)
|
rs2126590273
|
|
|
NM_004168.4(SDHA):c.1377C>T (p.Asp459=)
|
rs1579409909
|
|
|
NM_004168.4(SDHA):c.1378C>T (p.Leu460=)
|
rs760686493
|
|
|
NM_004168.4(SDHA):c.1380G>A (p.Leu460=)
|
|
|
|
NM_004168.4(SDHA):c.1384G>A (p.Val462Ile)
|
|
|
|
NM_004168.4(SDHA):c.1386C>G (p.Val462=)
|
|
|
|
NM_004168.4(SDHA):c.1387T>C (p.Phe463Leu)
|
|
|
|
NM_004168.4(SDHA):c.1389T>C (p.Phe463=)
|
rs2126590369
|
|
|
NM_004168.4(SDHA):c.138A>G (p.Lys46=)
|
|
|
|
NM_004168.4(SDHA):c.1390G>A (p.Gly464Ser)
|
rs2126590387
|
|
|
NM_004168.4(SDHA):c.1390G>C (p.Gly464Arg)
|
|
|
|
NM_004168.4(SDHA):c.1392T>G (p.Gly464=)
|
rs1579409940
|
|
|
NM_004168.4(SDHA):c.1393C>A (p.Arg465=)
|
rs752461029
|
|
|
NM_004168.4(SDHA):c.1396G>C (p.Ala466Pro)
|
|
|
|
NM_004168.4(SDHA):c.1396G>T (p.Ala466Ser)
|
rs111387770
|
|
|
NM_004168.4(SDHA):c.1396del (p.Ala466fs)
|
|
|
|
NM_004168.4(SDHA):c.1397dup (p.Cys467fs)
|
rs1735798915
|
|
|
NM_004168.4(SDHA):c.1398A>C (p.Ala466=)
|
rs878854626
|
|
|
NM_004168.4(SDHA):c.13C>A (p.Arg5=)
|
rs770866830
|
|
|
NM_004168.4(SDHA):c.13C>G (p.Arg5Gly)
|
rs770866830
|
|
|
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp)
|
rs770866830
|
|
|
NM_004168.4(SDHA):c.1403C>T (p.Ala468Val)
|
rs1057524636
|
|
|
NM_004168.4(SDHA):c.1408A>C (p.Ser470Arg)
|
rs1735799664
|
|
|
NM_004168.4(SDHA):c.1409G>A (p.Ser470Asn)
|
rs1241820374
|
|
|
NM_004168.4(SDHA):c.1409G>T (p.Ser470Ile)
|
|
|
|
NM_004168.4(SDHA):c.1411A>G (p.Ile471Val)
|
rs1735800203
|
|
|
NM_004168.4(SDHA):c.1413C>G (p.Ile471Met)
|
rs34779890
|
|
|
NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter)
|
|
|
|
NM_004168.4(SDHA):c.1416A>T (p.Glu472Asp)
|
|
|
|
NM_004168.4(SDHA):c.1417G>C (p.Glu473Gln)
|
rs2126590644
|
|
|
NM_004168.4(SDHA):c.1418A>C (p.Glu473Ala)
|
rs1560998495
|
|
|
NM_004168.4(SDHA):c.141T>C (p.Val47=)
|
rs748490907
|
|
|
NM_004168.4(SDHA):c.141T>G (p.Val47=)
|
rs748490907
|
|
|
NM_004168.4(SDHA):c.1420T>C (p.Ser474Pro)
|
rs2126590674
|
|
|
NM_004168.4(SDHA):c.1422A>G (p.Ser474=)
|
rs201868424
|
|
|
NM_004168.4(SDHA):c.1424G>C (p.Cys475Ser)
|
rs748567636
|
|
|
NM_004168.4(SDHA):c.1424G>T (p.Cys475Phe)
|
|
|
|
NM_004168.4(SDHA):c.1427G>A (p.Arg476Lys)
|
rs2126590736
|
|
|
NM_004168.4(SDHA):c.1428G>C (p.Arg476Ser)
|
rs377415114
|
|
|
NM_004168.4(SDHA):c.1428G>T (p.Arg476Ser)
|
rs377415114
|
|
|
NM_004168.4(SDHA):c.142T>A (p.Ser48Thr)
|
|
|
|
NM_004168.4(SDHA):c.1430C>A (p.Pro477His)
|
rs146990772
|
|
|
NM_004168.4(SDHA):c.1432+10T>C
|
|
|
|
NM_004168.4(SDHA):c.1432+11T>A
|
|
|
|
NM_004168.4(SDHA):c.1432+15C>T
|
rs2126590874
|
|
|
NM_004168.4(SDHA):c.1432+1G>A
|
|
|
|
NM_004168.4(SDHA):c.1432+1G>C
|
rs878854628
|
|
|
NM_004168.4(SDHA):c.1432+1G>T
|
rs878854628
|
|
|
NM_004168.4(SDHA):c.1432+20G>A
|
|
|
|
NM_004168.4(SDHA):c.1432+20G>C
|
rs200127852
|
|
|
NM_004168.4(SDHA):c.1432+3A>G
|
|
|
|
NM_004168.4(SDHA):c.1432+4A>G
|
rs1553999798
|
|
|
NM_004168.4(SDHA):c.1432+7G>A
|
rs760526397
|
|
|
NM_004168.4(SDHA):c.1432+7G>T
|
rs760526397
|
|
|
NM_004168.4(SDHA):c.1432+9T>G
|
rs1735803426
|
|
|
NM_004168.4(SDHA):c.1432+9_1432+11del
|
rs2126590852
|
|
|
NM_004168.4(SDHA):c.1432G>C (p.Gly478Arg)
|
|
|
|
NM_004168.4(SDHA):c.1433-10T>G
|
|
|
|
NM_004168.4(SDHA):c.1433-11T>C
|
|
|
|
NM_004168.4(SDHA):c.1433-11T>G
|
rs1194122879
|
|
|
NM_004168.4(SDHA):c.1433-13T>C
|
|
|
|
NM_004168.4(SDHA):c.1433-14T>A
|
rs2126602367
|
|
|
NM_004168.4(SDHA):c.1433-14T>C
|
rs2126602367
|
|
|
NM_004168.4(SDHA):c.1433-14T>G
|
rs2126602367
|
|
|
NM_004168.4(SDHA):c.1433-15T>A
|
|
|
|
NM_004168.4(SDHA):c.1433-16C>G
|
|
|
|
NM_004168.4(SDHA):c.1433-18A>G
|
|
|
|
NM_004168.4(SDHA):c.1433-19T>C
|
rs2126602340
|
|
|
NM_004168.4(SDHA):c.1433-2A>G
|
|
|
|
NM_004168.4(SDHA):c.1433-3T>C
|
rs1736060812
|
|
|
NM_004168.4(SDHA):c.1433-3del
|
rs2126602411
|
|
|
NM_004168.4(SDHA):c.1433-4T>G
|
rs2126602419
|
|
|
NM_004168.4(SDHA):c.1433-5T>A
|
rs2126602416
|
|
|
NM_004168.4(SDHA):c.1433-7G>A
|
|
|
|
NM_004168.4(SDHA):c.1433-8T>G
|
rs2126602401
|
|
|
NM_004168.4(SDHA):c.1433-8del
|
|
|
|
NM_004168.4(SDHA):c.1433-8dup
|
rs769594966
|
|
|
NM_004168.4(SDHA):c.1433-9T>C
|
rs1579417426
|
|
|
NM_004168.4(SDHA):c.1436A>G (p.Asp479Gly)
|
|
|
|
NM_004168.4(SDHA):c.1436A>T (p.Asp479Val)
|
|
|
|
NM_004168.4(SDHA):c.1437_1438insGT (p.Lys480fs)
|
|
|
|
NM_004168.4(SDHA):c.1438A>G (p.Lys480Glu)
|
rs1579417444
|
|
|
NM_004168.4(SDHA):c.1438A>T (p.Lys480Ter)
|
|
|
|
NM_004168.4(SDHA):c.1439A>G (p.Lys480Arg)
|
|
|
|
NM_004168.4(SDHA):c.1441G>A (p.Val481Ile)
|
|
|
|
NM_004168.4(SDHA):c.1442T>G (p.Val481Gly)
|
rs1736061170
|
|
|
NM_004168.4(SDHA):c.1443C>A (p.Val481=)
|
rs751871185
|
|
|
NM_004168.4(SDHA):c.1443C>T (p.Val481=)
|
rs751871185
|
|
|
NM_004168.4(SDHA):c.1444C>T (p.Pro482Ser)
|
|
|
|
NM_004168.4(SDHA):c.1445C>G (p.Pro482Arg)
|
rs759661610
|
|
|
NM_004168.4(SDHA):c.1445C>T (p.Pro482Leu)
|
rs759661610
|
|
|
NM_004168.4(SDHA):c.1446T>G (p.Pro482=)
|
rs767646499
|
|
|
NM_004168.4(SDHA):c.1448C>T (p.Pro483Leu)
|
rs2126602519
|
|
|
NM_004168.4(SDHA):c.144A>G (p.Ser48=)
|
|
|
|
NM_004168.4(SDHA):c.1452T>C (p.Ile484=)
|
|
|
|
NM_004168.4(SDHA):c.1453A>C (p.Lys485Gln)
|
|
|
|
NM_004168.4(SDHA):c.1453A>G (p.Lys485Glu)
|
rs1736062209
|
|
|
NM_004168.4(SDHA):c.1456C>T (p.Pro486Ser)
|
rs1060503706
|
|
|
NM_004168.4(SDHA):c.1457C>T (p.Pro486Leu)
|
rs1579417528
|
|
|
NM_004168.4(SDHA):c.1458A>G (p.Pro486=)
|
rs2126602561
|
|
|
NM_004168.4(SDHA):c.145G>C (p.Asp49His)
|
rs1734836072
|
|
|
NM_004168.4(SDHA):c.1461C>A (p.Asn487Lys)
|
|
|
|
NM_004168.4(SDHA):c.1462G>T (p.Ala488Ser)
|
rs369100772
|
|
|
NM_004168.4(SDHA):c.1463C>T (p.Ala488Val)
|
rs1421325038
|
|
|
NM_004168.4(SDHA):c.1465G>A (p.Gly489Arg)
|
rs2126602614
|
|
|
NM_004168.4(SDHA):c.1466G>A (p.Gly489Glu)
|
|
|
|
NM_004168.4(SDHA):c.1466_1468del (p.Gly489del)
|
|
|
|
NM_004168.4(SDHA):c.1468G>A (p.Glu490Lys)
|
|
|
|
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)
|
rs1554000360
|
|
|
NM_004168.4(SDHA):c.1470_1473dup (p.Ser492fs)
|
rs2126602655
|
|
|
NM_004168.4(SDHA):c.1471G>A (p.Glu491Lys)
|
rs778207102
|
|
|
NM_004168.4(SDHA):c.1472A>G (p.Glu491Gly)
|
rs754324916
|
|
|
NM_004168.4(SDHA):c.1477G>T (p.Val493Phe)
|
rs1579417619
|
|
|
NM_004168.4(SDHA):c.1477_1478del (p.Val493fs)
|
|
|
|
NM_004168.4(SDHA):c.1479C>T (p.Val493=)
|
rs2126602710
|
|
|
NM_004168.4(SDHA):c.147T>C (p.Asp49=)
|
rs2126539950
|
|
|
NM_004168.4(SDHA):c.1480A>G (p.Met494Val)
|
rs1579417628
|
|
|
NM_004168.4(SDHA):c.1481T>C (p.Met494Thr)
|
rs1561001630
|
|
|
NM_004168.4(SDHA):c.1484A>T (p.Asn495Ile)
|
|
|
|
NM_004168.4(SDHA):c.1486C>A (p.Leu496Ile)
|
rs1305001616
|
|
|
NM_004168.4(SDHA):c.148T>G (p.Ser50Ala)
|
rs1560985310
|
|
|
NM_004168.4(SDHA):c.1491C>G (p.Asp497Glu)
|
rs1579417658
|
|
|
NM_004168.4(SDHA):c.1492A>C (p.Lys498Gln)
|
|
|
|
NM_004168.4(SDHA):c.1493A>C (p.Lys498Thr)
|
|
|
|
NM_004168.4(SDHA):c.1494_1516del (p.Lys498fs)
|
|
|
|
NM_004168.4(SDHA):c.1498A>C (p.Arg500=)
|
rs2126602800
|
|
|
NM_004168.4(SDHA):c.149C>A (p.Ser50Tyr)
|
rs369321221
|
|
|
NM_004168.4(SDHA):c.149C>G (p.Ser50Cys)
|
rs369321221
|
|
|
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln)
|
rs779027774
|
|
|
NM_004168.4(SDHA):c.150+12C>G
|
rs773966272
|
|
|
NM_004168.4(SDHA):c.150+14T>C
|
|
|
|
NM_004168.4(SDHA):c.150+14T>G
|
|
|
|
NM_004168.4(SDHA):c.150+15T>C
|
rs1734837973
|
|
|
NM_004168.4(SDHA):c.150+17dup
|
rs1734837730
|
|
|
NM_004168.4(SDHA):c.150+18G>A
|
|
|
|
NM_004168.4(SDHA):c.150+1G>C
|
rs1057523165
|
|
|
NM_004168.4(SDHA):c.150+21_150+25del
|
|
|
|
NM_004168.4(SDHA):c.150+2dup
|
rs1560985349
|
|
|
NM_004168.4(SDHA):c.150+4A>G
|
rs1734837029
|
|
|
NM_004168.4(SDHA):c.150+6T>G
|
rs1060503699
|
|
|
NM_004168.4(SDHA):c.150+7T>G
|
rs1734837376
|
|
|
NM_004168.4(SDHA):c.150+9A>G
|
rs1553997201
|
|
|
NM_004168.4(SDHA):c.1500A>G (p.Arg500=)
|
|
|
|
NM_004168.4(SDHA):c.1502T>G (p.Phe501Cys)
|
rs757932443
|
|
|
NM_004168.4(SDHA):c.1506T>C (p.Ala502=)
|
rs1364448678
|
|
|
NM_004168.4(SDHA):c.1507G>A (p.Asp503Asn)
|
rs2126602837
|
|
|
NM_004168.4(SDHA):c.1508A>C (p.Asp503Ala)
|
rs1736066055
|
|
|
NM_004168.4(SDHA):c.1509T>C (p.Asp503=)
|
rs2126602858
|
|
|
NM_004168.4(SDHA):c.150_150+1delinsTA
|
rs2126539987
|
|
|
NM_004168.4(SDHA):c.151-15A>G
|
|
|
|
NM_004168.4(SDHA):c.151-16A>C
|
|
|
|
NM_004168.4(SDHA):c.151-17G>A
|
|
|
|
NM_004168.4(SDHA):c.151-18T>G
|
|
|
|
NM_004168.4(SDHA):c.151-1G>C
|
rs1458851277
|
|
|
NM_004168.4(SDHA):c.151-20G>C
|
rs2126542228
|
|
|
NM_004168.4(SDHA):c.151-20G>T
|
rs2126542228
|
|
|
NM_004168.4(SDHA):c.151-2A>G
|
|
|
|
NM_004168.4(SDHA):c.151-3C>T
|
|
|
|
NM_004168.4(SDHA):c.151-6T>C
|
|
|
|
NM_004168.4(SDHA):c.151-8T>C
|
|
|
|
NM_004168.4(SDHA):c.151-9C>G
|
rs1734881724
|
|
|
NM_004168.4(SDHA):c.151-9_151-7del
|
rs2126542243
|
|
|
NM_004168.4(SDHA):c.1510G>A (p.Gly504Arg)
|
rs1579417710
|
|
|
NM_004168.4(SDHA):c.1514G>A (p.Ser505Asn)
|
rs1060503722
|
|
|
NM_004168.4(SDHA):c.1516A>G (p.Ile506Val)
|
rs1561001683
|
|
|
NM_004168.4(SDHA):c.1517T>C (p.Ile506Thr)
|
rs2126602878
|
|
|
NM_004168.4(SDHA):c.1520G>A (p.Arg507Lys)
|
|
|
|
NM_004168.4(SDHA):c.1522A>G (p.Thr508Ala)
|
rs1060503718
|
|
|
NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser)
|
rs1060503718
|
|
|
NM_004168.4(SDHA):c.1525T>C (p.Ser509Pro)
|
rs1579417769
|
|
|
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu)
|
rs397514541
|
|
|
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)
|
rs1064793567
|
|
|
NM_004168.4(SDHA):c.1526del (p.Ser509fs)
|
|
|
|
NM_004168.4(SDHA):c.1531C>G (p.Leu511Val)
|
rs768257880
|
|
|
NM_004168.4(SDHA):c.1531C>T (p.Leu511=)
|
rs768257880
|
|
|
NM_004168.4(SDHA):c.1533G>A (p.Leu511=)
|
rs876658698
|
|
|
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)
|
rs192818312
|
|
|
NM_004168.4(SDHA):c.1535G>C (p.Arg512Pro)
|
|
|
|
NM_004168.4(SDHA):c.1541G>A (p.Ser514Asn)
|
rs587781729
|
|
|
NM_004168.4(SDHA):c.1541G>C (p.Ser514Thr)
|
rs587781729
|
|
|
NM_004168.4(SDHA):c.1543A>G (p.Met515Val)
|
rs1736069297
|
|
|
NM_004168.4(SDHA):c.1545G>A (p.Met515Ile)
|
|
|
|
NM_004168.4(SDHA):c.1545G>T (p.Met515Ile)
|
rs1736069479
|
|
|
NM_004168.4(SDHA):c.1547A>G (p.Gln516Arg)
|
rs981171929
|
|
|
NM_004168.4(SDHA):c.1547A>T (p.Gln516Leu)
|
|
|
|
NM_004168.4(SDHA):c.1547dup (p.Lys517fs)
|
rs1554000378
|
|
|
NM_004168.4(SDHA):c.1548G>A (p.Gln516=)
|
rs2126603098
|
|
|
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu)
|
rs786205210
|
|
|
NM_004168.4(SDHA):c.1549_1551dup (p.Lys517dup)
|
rs1736070159
|
|
|
NM_004168.4(SDHA):c.1551+11G>C
|
|
|
|
NM_004168.4(SDHA):c.1551+12G>A
|
|
|
|
NM_004168.4(SDHA):c.1551+14C>T
|
|
|
|
NM_004168.4(SDHA):c.1551+16C>G
|
|
|
|
NM_004168.4(SDHA):c.1551+18C>A
|
|
|
|
NM_004168.4(SDHA):c.1551+18C>T
|
rs2126603212
|
|
|
NM_004168.4(SDHA):c.1551+1G>A
|
rs759806010
|
|
|
NM_004168.4(SDHA):c.1551+3A>G
|
rs767596385
|
|
|
NM_004168.4(SDHA):c.1551+4A>T
|
rs928294715
|
|
|
NM_004168.4(SDHA):c.1551+5G>C
|
rs2126603143
|
|
|
NM_004168.4(SDHA):c.1551+6A>G
|
rs369507726
|
|
|
NM_004168.4(SDHA):c.1551+7G>A
|
rs760796714
|
|
|
NM_004168.4(SDHA):c.1551+9C>T
|
rs2126603158
|
|
|
NM_004168.4(SDHA):c.1552-10T>C
|
|
|
|
NM_004168.4(SDHA):c.1552-10T>G
|
rs1736784473
|
|
|
NM_004168.4(SDHA):c.1552-12T>C
|
rs2126631871
|
|
|
NM_004168.4(SDHA):c.1552-173_1585dup
|
rs1736773597
|
|
|
NM_004168.4(SDHA):c.1552-17A>T
|
|
|
|
NM_004168.4(SDHA):c.1552-18T>A
|
|
|
|
NM_004168.4(SDHA):c.1552-18T>G
|
rs2126631828
|
|
|
NM_004168.4(SDHA):c.1552-1G>C
|
|
|
|
NM_004168.4(SDHA):c.1552-20A>C
|
rs1378314484
|
|
|
NM_004168.4(SDHA):c.1552-20A>G
|
rs1378314484
|
|
|
NM_004168.4(SDHA):c.1552-2591A>G
|
|
|
|
NM_004168.4(SDHA):c.1552-3_1552-2del
|
rs2126631914
|
|
|
NM_004168.4(SDHA):c.1552-4A>C
|
|
|
|
NM_004168.4(SDHA):c.1552-6C>T
|
rs2126631902
|
|
|
NM_004168.4(SDHA):c.1552-7G>C
|
rs1351792129
|
|
|
NM_004168.4(SDHA):c.1552-7G>T
|
rs1351792129
|
|
|
NM_004168.4(SDHA):c.1552T>A (p.Ser518Thr)
|
|
|
|
NM_004168.4(SDHA):c.1552T>C (p.Ser518Pro)
|
rs2126631929
|
|
|
NM_004168.4(SDHA):c.1553C>T (p.Ser518Leu)
|
rs2126631937
|
|
|
NM_004168.4(SDHA):c.1555A>G (p.Met519Val)
|
rs2126631942
|
|
|
NM_004168.4(SDHA):c.1557G>A (p.Met519Ile)
|
|
|
|
NM_004168.4(SDHA):c.1558C>T (p.Gln520Ter)
|
rs2126631964
|
|
|
NM_004168.4(SDHA):c.1560A>G (p.Gln520=)
|
rs1261025402
|
|
|
NM_004168.4(SDHA):c.1562A>G (p.Asn521Ser)
|
|
|
|
NM_004168.4(SDHA):c.1563T>A (p.Asn521Lys)
|
|
|
|
NM_004168.4(SDHA):c.1564C>T (p.His522Tyr)
|
|
|
|
NM_004168.4(SDHA):c.1564_1566del (p.His522del)
|
rs1325342549
|
|
|
NM_004168.4(SDHA):c.1565A>G (p.His522Arg)
|
|
|
|
NM_004168.4(SDHA):c.1567G>T (p.Ala523Ser)
|
rs1554001820
|
|
|
NM_004168.4(SDHA):c.1568C>A (p.Ala523Asp)
|
rs1736785630
|
|
|
NM_004168.4(SDHA):c.1568C>G (p.Ala523Gly)
|
rs1736785630
|
|
|
NM_004168.4(SDHA):c.1568C>T (p.Ala523Val)
|
rs1736785630
|
|
|
NM_004168.4(SDHA):c.1569T>A (p.Ala523=)
|
|
|
|
NM_004168.4(SDHA):c.1570G>A (p.Ala524Thr)
|
|
|
|
NM_004168.4(SDHA):c.1570G>T (p.Ala524Ser)
|
|
|
|
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val)
|
rs137852767
|
|
|
NM_004168.4(SDHA):c.1572C>G (p.Ala524=)
|
rs185679709
|
|
|
NM_004168.4(SDHA):c.1578C>A (p.Phe526Leu)
|
rs2126632042
|
|
|
NM_004168.4(SDHA):c.1578C>T (p.Phe526=)
|
rs2126632042
|
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
|
NM_004168.4(SDHA):c.1581T>C (p.Arg527=)
|
rs2126632074
|
|
|
NM_004168.4(SDHA):c.1582G>A (p.Val528Met)
|
rs1554001827
|
|
|
NM_004168.4(SDHA):c.1584G>A (p.Val528=)
|
|
|
|
NM_004168.4(SDHA):c.1584G>C (p.Val528=)
|
|
|
|
NM_004168.4(SDHA):c.1584G>T (p.Val528=)
|
|
|
|
NM_004168.4(SDHA):c.1586G>C (p.Gly529Ala)
|
rs2126632088
|
|
|
NM_004168.4(SDHA):c.1589G>A (p.Ser530Asn)
|
|
|
|
NM_004168.4(SDHA):c.158C>G (p.Ala53Gly)
|
|
|
|
NM_004168.4(SDHA):c.1591G>T (p.Val531Leu)
|
rs371056571
|
|
|
NM_004168.4(SDHA):c.1593G>A (p.Val531=)
|
rs2126632110
|
|
|
NM_004168.4(SDHA):c.1596G>T (p.Leu532Phe)
|
rs1449742263
|
|
|
NM_004168.4(SDHA):c.1598A>C (p.Gln533Pro)
|
rs1395387473
|
|
|
NM_004168.4(SDHA):c.1598A>T (p.Gln533Leu)
|
rs1395387473
|
|
|
NM_004168.4(SDHA):c.1598AAG[1] (p.Glu534del)
|
rs1736788779
|
|
|
NM_004168.4(SDHA):c.1599A>G (p.Gln533=)
|
rs1407806818
|
|
|
NM_004168.4(SDHA):c.159T>C (p.Ala53=)
|
|
|
|
NM_004168.4(SDHA):c.15G>C (p.Arg5=)
|
|
|
|
NM_004168.4(SDHA):c.1600G>A (p.Glu534Lys)
|
|
|
|
NM_004168.4(SDHA):c.1602A>G (p.Glu534=)
|
rs2126632157
|
|
|
NM_004168.4(SDHA):c.1604G>C (p.Gly535Ala)
|
rs1736789524
|
|
|
NM_004168.4(SDHA):c.1607G>A (p.Cys536Tyr)
|
rs1736789855
|
|
|
NM_004168.4(SDHA):c.1607G>T (p.Cys536Phe)
|
|
|
|
NM_004168.4(SDHA):c.1608T>A (p.Cys536Ter)
|
|
|
|
NM_004168.4(SDHA):c.1608T>G (p.Cys536Trp)
|
|
|
|
NM_004168.4(SDHA):c.1609G>A (p.Gly537Arg)
|
rs1736789994
|
|
|
NM_004168.4(SDHA):c.160C>T (p.Gln54Ter)
|
rs1560985916
|
|
|
NM_004168.4(SDHA):c.1610G>C (p.Gly537Ala)
|
|
|
|
NM_004168.4(SDHA):c.1614A>G (p.Lys538=)
|
rs1554001847
|
|
|
NM_004168.4(SDHA):c.1615A>G (p.Ile539Val)
|
|
|
|
NM_004168.4(SDHA):c.1615dup (p.Ile539fs)
|
rs1554001843
|
|
|
NM_004168.4(SDHA):c.1616T>G (p.Ile539Ser)
|
rs749219128
|
|
|
NM_004168.4(SDHA):c.1617C>T (p.Ile539=)
|
rs2126632215
|
|
|
NM_004168.4(SDHA):c.161A>G (p.Gln54Arg)
|
|
|
|
NM_004168.4(SDHA):c.1620C>T (p.Ser540=)
|
|
|
|
NM_004168.4(SDHA):c.1621A>G (p.Lys541Glu)
|
rs1736791200
|
|
|
NM_004168.4(SDHA):c.1624C>T (p.Leu542Phe)
|
|
|
|
NM_004168.4(SDHA):c.1625T>C (p.Leu542Pro)
|
rs1233761838
|
|
|
NM_004168.4(SDHA):c.1626C>G (p.Leu542=)
|
|
|
|
NM_004168.4(SDHA):c.1626C>T (p.Leu542=)
|
rs1269358534
|
|
|
NM_004168.4(SDHA):c.1631G>A (p.Gly544Glu)
|
rs2126632293
|
|
|
NM_004168.4(SDHA):c.1633G>A (p.Asp545Asn)
|
rs1736792773
|
|
|
NM_004168.4(SDHA):c.1633G>T (p.Asp545Tyr)
|
rs1736792773
|
|
|
NM_004168.4(SDHA):c.1638A>C (p.Leu546=)
|
rs1041963
|
|
|
NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln)
|
|
|
|
NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg)
|
rs1561010407
|
|
|
NM_004168.4(SDHA):c.1641G>A (p.Lys547=)
|
|
|
|
NM_004168.4(SDHA):c.1643A>G (p.His548Arg)
|
|
|
|
NM_004168.4(SDHA):c.1645C>G (p.Leu549Val)
|
rs1554001867
|
|
|
NM_004168.4(SDHA):c.1645C>T (p.Leu549=)
|
|
|
|
NM_004168.4(SDHA):c.1646T>C (p.Leu549Pro)
|
rs1579438155
|
|
|
NM_004168.4(SDHA):c.1648A>C (p.Lys550Gln)
|
rs1400219619
|
|
|
NM_004168.4(SDHA):c.164A>G (p.Tyr55Cys)
|
rs2126542365
|
|
|
NM_004168.4(SDHA):c.1650G>A (p.Lys550=)
|
rs1359705251
|
|
|
NM_004168.4(SDHA):c.1651A>G (p.Thr551Ala)
|
rs1200051286
|
|
|
NM_004168.4(SDHA):c.1654T>G (p.Phe552Val)
|
rs1736795269
|
|
|
NM_004168.4(SDHA):c.1656del (p.Phe552fs)
|
rs1736795573
|
|
|
NM_004168.4(SDHA):c.1658A>C (p.Asp553Ala)
|
rs1060503723
|
|
|
NM_004168.4(SDHA):c.1658_1661del (p.Asp553fs)
|
rs2126632404
|
|
|
NM_004168.4(SDHA):c.1659C>T (p.Asp553=)
|
|
|
|
NM_004168.4(SDHA):c.1660C>A (p.Arg554=)
|
rs9809219
|
|
|
NM_004168.4(SDHA):c.1661G>C (p.Arg554Pro)
|
|
|
|
NM_004168.4(SDHA):c.1661G>T (p.Arg554Leu)
|
rs376391115
|
|
|
NM_004168.4(SDHA):c.1662G>C (p.Arg554=)
|
rs1579438241
|
|
|
NM_004168.4(SDHA):c.1662G>T (p.Arg554=)
|
rs1579438241
|
|
|
NM_004168.4(SDHA):c.1663+10C>G
|
|
|
|
NM_004168.4(SDHA):c.1663+11A>C
|
rs1037190778
|
|
|
NM_004168.4(SDHA):c.1663+12G>A
|
|
|
|
NM_004168.4(SDHA):c.1663+16G>C
|
|
|
|
NM_004168.4(SDHA):c.1663+16G>T
|
|
|
|
NM_004168.4(SDHA):c.1663+17C>T
|
rs759291109
|
|
|
NM_004168.4(SDHA):c.1663+1G>A
|
rs766667009
|
|
|
NM_004168.4(SDHA):c.1663+1G>C
|
|
|
|
NM_004168.4(SDHA):c.1663+5G>C
|
rs1736797211
|
|
|
NM_004168.4(SDHA):c.1663+6C>G
|
rs1736797323
|
|
|
NM_004168.4(SDHA):c.1663+7A>G
|
rs1579438260
|
|
|
NM_004168.4(SDHA):c.1663G>A (p.Gly555Arg)
|
rs1392860800
|
|
|
NM_004168.4(SDHA):c.1663G>C (p.Gly555Arg)
|
rs1392860800
|
|
|
NM_004168.4(SDHA):c.1664-10G>T
|
rs1736810726
|
|
|
NM_004168.4(SDHA):c.1664-11del
|
rs1561010692
|
|
|
NM_004168.4(SDHA):c.1664-19G>A
|
rs2126633052
|
|
|
NM_004168.4(SDHA):c.1664-1G>A
|
|
|
|
NM_004168.4(SDHA):c.1664-2A>G
|
rs2126633124
|
|
|
NM_004168.4(SDHA):c.1664-3C>T
|
|
|
|
NM_004168.4(SDHA):c.1664-4C>A
|
rs774876028
|
|
|
NM_004168.4(SDHA):c.1664-4C>G
|
rs774876028
|
|
|
NM_004168.4(SDHA):c.1664-4C>T
|
|
|
|
NM_004168.4(SDHA):c.1664-5C>G
|
rs1211852182
|
|
|
NM_004168.4(SDHA):c.1664-9dup
|
rs2126633086
|
|
|
NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu)
|
rs137852768
|
|
|
NM_004168.4(SDHA):c.1667T>A (p.Met556Lys)
|
rs1579438769
|
|
|
NM_004168.4(SDHA):c.1667T>C (p.Met556Thr)
|
rs1579438769
|
|
|
NM_004168.4(SDHA):c.1668G>A (p.Met556Ile)
|
rs2126633148
|
|
|
NM_004168.4(SDHA):c.1669G>A (p.Val557Ile)
|
|
|
|
NM_004168.4(SDHA):c.166C>A (p.Pro56Thr)
|
rs2126542374
|
|
|
NM_004168.4(SDHA):c.1670T>C (p.Val557Ala)
|
|
|
|
NM_004168.4(SDHA):c.1671C>G (p.Val557=)
|
|
|
|
NM_004168.4(SDHA):c.1674G>T (p.Trp558Cys)
|
rs1561010726
|
|
|
NM_004168.4(SDHA):c.1677C>T (p.Asn559=)
|
rs2126633167
|
|
|
NM_004168.4(SDHA):c.1678A>G (p.Thr560Ala)
|
rs1269114291
|
|
|
NM_004168.4(SDHA):c.167C>T (p.Pro56Leu)
|
|
|
|
NM_004168.4(SDHA):c.1680G>T (p.Thr560=)
|
rs1139449
|
|
|
NM_004168.4(SDHA):c.1684C>A (p.Leu562Met)
|
rs1561010740
|
|
|
NM_004168.4(SDHA):c.1684C>G (p.Leu562Val)
|
rs1561010740
|
|
|
NM_004168.4(SDHA):c.1684C>T (p.Leu562=)
|
rs1561010740
|
|
|
NM_004168.4(SDHA):c.1685T>C (p.Leu562Pro)
|
rs1736814018
|
|
|
NM_004168.4(SDHA):c.1686G>C (p.Leu562=)
|
rs1579438828
|
|
|
NM_004168.4(SDHA):c.1686G>T (p.Leu562=)
|
rs1579438828
|
|
|
NM_004168.4(SDHA):c.1687G>T (p.Val563Leu)
|
rs1736814459
|
|
|
NM_004168.4(SDHA):c.1689G>A (p.Val563=)
|
rs2126633222
|
|
|
NM_004168.4(SDHA):c.168A>G (p.Pro56=)
|
rs745316978
|
|
|
NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer)
|
|
|
|
NM_004168.4(SDHA):c.1691A>G (p.Glu564Gly)
|
rs763529675
|
|
|
NM_004168.4(SDHA):c.1692G>A (p.Glu564=)
|
rs368388954
|
|
|
NM_004168.4(SDHA):c.1692G>C (p.Glu564Asp)
|
rs368388954
|
|
|
NM_004168.4(SDHA):c.1694C>T (p.Thr565Ile)
|
rs757176672
|
|
|
NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg)
|
rs1579438883
|
|
|
NM_004168.4(SDHA):c.1699G>A (p.Glu567Lys)
|
rs1736816371
|
|
|
NM_004168.4(SDHA):c.169G>A (p.Val57Ile)
|
rs1060503724
|
|
|
NM_004168.4(SDHA):c.169G>T (p.Val57Leu)
|
rs1060503724
|
|
|
NM_004168.4(SDHA):c.16G>C (p.Gly6Arg)
|
rs1352756438
|
|
|
NM_004168.4(SDHA):c.1702C>G (p.Leu568Val)
|
rs1554001912
|
|
|
NM_004168.4(SDHA):c.1706A>G (p.Gln569Arg)
|
|
|
|
NM_004168.4(SDHA):c.1707G>C (p.Gln569His)
|
|
|
|
NM_004168.4(SDHA):c.1708A>T (p.Asn570Tyr)
|
rs1561010778
|
|
|
NM_004168.4(SDHA):c.1709A>C (p.Asn570Thr)
|
|
|
|
NM_004168.4(SDHA):c.170T>A (p.Val57Glu)
|
rs1734883606
|
|
|
NM_004168.4(SDHA):c.1710C>A (p.Asn570Lys)
|
|
|
|
NM_004168.4(SDHA):c.1711C>G (p.Leu571Val)
|
rs1377424433
|
|
|
NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro)
|
rs1736817446
|
|
|
NM_004168.4(SDHA):c.1715T>C (p.Met572Thr)
|
rs1554001925
|
|
|
NM_004168.4(SDHA):c.1715T>G (p.Met572Arg)
|
rs1554001925
|
|
|
NM_004168.4(SDHA):c.1716dup (p.Leu573fs)
|
|
|
|
NM_004168.4(SDHA):c.1719G>T (p.Leu573=)
|
|
|
|
NM_004168.4(SDHA):c.171dup (p.Val58fs)
|
rs1553997323
|
|
|
NM_004168.4(SDHA):c.1721G>A (p.Cys574Tyr)
|
rs2126633379
|
|
|
NM_004168.4(SDHA):c.1723G>A (p.Ala575Thr)
|
rs1301370839
|
|
|
NM_004168.4(SDHA):c.1725G>T (p.Ala575=)
|
rs758252610
|
|
|
NM_004168.4(SDHA):c.1728G>A (p.Leu576=)
|
rs1736819188
|
|
|
NM_004168.4(SDHA):c.172G>A (p.Val58Met)
|
|
|
|
NM_004168.4(SDHA):c.1733C>A (p.Thr578Asn)
|
rs1349207461
|
|
|
NM_004168.4(SDHA):c.1733C>T (p.Thr578Ile)
|
rs1349207461
|
|
|
NM_004168.4(SDHA):c.1735A>G (p.Ile579Val)
|
rs1042052
|
|
|
NM_004168.4(SDHA):c.1736T>C (p.Ile579Thr)
|
rs1323205068
|
|
|
NM_004168.4(SDHA):c.1737C>A (p.Ile579=)
|
|
|
|
NM_004168.4(SDHA):c.1738T>A (p.Tyr580Asn)
|
|
|
|
NM_004168.4(SDHA):c.1738T>C (p.Tyr580His)
|
rs1042056
|
|
|
NM_004168.4(SDHA):c.1739A>T (p.Tyr580Phe)
|
|
|
|
NM_004168.4(SDHA):c.173T>G (p.Val58Gly)
|
rs2126542426
|
|
|
NM_004168.4(SDHA):c.1741G>T (p.Gly581Ter)
|
|
|
|
NM_004168.4(SDHA):c.1742G>A (p.Gly581Glu)
|
|
|
|
NM_004168.4(SDHA):c.1743_1744del (p.Ala582fs)
|
rs2126633505
|
|
|
NM_004168.4(SDHA):c.1744G>C (p.Ala582Pro)
|
rs1736821952
|
|
|
NM_004168.4(SDHA):c.1746A>T (p.Ala582=)
|
|
|
|
NM_004168.4(SDHA):c.1751_1752inv (p.Ala584Val)
|
|
|
|
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
|
|
|
|
NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs)
|
rs1561010916
|
|
|
NM_004168.4(SDHA):c.1756A>C (p.Lys586Gln)
|
|
|
|
NM_004168.4(SDHA):c.1756A>G (p.Lys586Glu)
|
rs1736823607
|
|
|
NM_004168.4(SDHA):c.1758G>A (p.Lys586=)
|
rs1554001953
|
|
|
NM_004168.4(SDHA):c.1759G>A (p.Glu587Lys)
|
rs1554001954
|
|
|
NM_004168.4(SDHA):c.175G>A (p.Asp59Asn)
|
|
|
|
NM_004168.4(SDHA):c.1761G>A (p.Glu587=)
|
rs2126633619
|
|
|
NM_004168.4(SDHA):c.1763C>T (p.Ser588Leu)
|
rs1579439198
|
|
|
NM_004168.4(SDHA):c.1764A>G (p.Ser588=)
|
rs2126633642
|
|
|
NM_004168.4(SDHA):c.1764dup (p.Arg589fs)
|
rs2126633648
|
|
|
NM_004168.4(SDHA):c.1765C>A (p.Arg589=)
|
rs387906780
|
|
|
NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly)
|
rs387906780
|
|
|
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln)
|
rs763766162
|
|
|
NM_004168.4(SDHA):c.1768G>A (p.Gly590Ser)
|
rs1736825032
|
|
|
NM_004168.4(SDHA):c.1769G>A (p.Gly590Asp)
|
rs2126633698
|
|
|
NM_004168.4(SDHA):c.1769del (p.Gly590fs)
|
rs1554001958
|
|
|
NM_004168.4(SDHA):c.176A>G (p.Asp59Gly)
|
rs775449731
|
|
|
NM_004168.4(SDHA):c.1770C>A (p.Gly590=)
|
rs142457602
|
|
|
NM_004168.4(SDHA):c.1770C>G (p.Gly590=)
|
rs142457602
|
|
|
NM_004168.4(SDHA):c.1773G>C (p.Ala591=)
|
rs555028212
|
|
|
NM_004168.4(SDHA):c.1773G>T (p.Ala591=)
|
|
|
|
NM_004168.4(SDHA):c.1773_1774dup (p.His592fs)
|
rs1561010948
|
|
|
NM_004168.4(SDHA):c.1774C>A (p.His592Asn)
|
rs1579439269
|
|
|
NM_004168.4(SDHA):c.1774C>T (p.His592Tyr)
|
rs1579439269
|
|
|
NM_004168.4(SDHA):c.1775A>G (p.His592Arg)
|
rs1554001966
|
|
|
NM_004168.4(SDHA):c.1776T>G (p.His592Gln)
|
rs1126538
|
|
|
NM_004168.4(SDHA):c.1777G>A (p.Ala593Thr)
|
rs1736827311
|
|
|
NM_004168.4(SDHA):c.1778C>A (p.Ala593Asp)
|
rs1736827451
|
|
|
NM_004168.4(SDHA):c.1778C>T (p.Ala593Val)
|
rs1736827451
|
|
|
NM_004168.4(SDHA):c.1780A>G (p.Arg594Gly)
|
|
|
|
NM_004168.4(SDHA):c.1781G>T (p.Arg594Met)
|
|
|
|
NM_004168.4(SDHA):c.1782G>C (p.Arg594Ser)
|
|
|
|
NM_004168.4(SDHA):c.1783G>A (p.Glu595Lys)
|
|
|
|
NM_004168.4(SDHA):c.1786G>C (p.Asp596His)
|
rs371304688
|
|
|
NM_004168.4(SDHA):c.1786G>T (p.Asp596Tyr)
|
rs371304688
|
|
|
NM_004168.4(SDHA):c.1787A>T (p.Asp596Val)
|
|
|
|
NM_004168.4(SDHA):c.1789T>C (p.Tyr597His)
|
rs1060503721
|
|
|
NM_004168.4(SDHA):c.1789_1791del (p.Tyr597del)
|
|
|
|
NM_004168.4(SDHA):c.1790A>G (p.Tyr597Cys)
|
rs1736828708
|
|
|
NM_004168.4(SDHA):c.1790A>T (p.Tyr597Phe)
|
rs1736828708
|
|
|
NM_004168.4(SDHA):c.1791C>T (p.Tyr597=)
|
rs1226155499
|
|
|
NM_004168.4(SDHA):c.1792A>G (p.Lys598Glu)
|
rs2126633857
|
|
|
NM_004168.4(SDHA):c.1793A>G (p.Lys598Arg)
|
rs1579439363
|
|
|
NM_004168.4(SDHA):c.1794+10C>T
|
rs1060505010
|
|
|
NM_004168.4(SDHA):c.1794+11T>C
|
|
|
|
NM_004168.4(SDHA):c.1794+14C>G
|
rs1412436993
|
|
|
NM_004168.4(SDHA):c.1794+15C>T
|
|
|
|
NM_004168.4(SDHA):c.1794+18G>T
|
|
|
|
NM_004168.4(SDHA):c.1794+1G>A
|
rs876659595
|
|
|
NM_004168.4(SDHA):c.1794+20C>A
|
rs2126633960
|
|
|
NM_004168.4(SDHA):c.1794+3G>A
|
rs375883981
|
|
|
NM_004168.4(SDHA):c.1794+4G>A
|
|
|
|
NM_004168.4(SDHA):c.1794+4G>T
|
|
|
|
NM_004168.4(SDHA):c.1794+5G>A
|
|
|
|
NM_004168.4(SDHA):c.1794+5G>C
|
rs1205244370
|
|
|
NM_004168.4(SDHA):c.1794+6C>T
|
|
|
|
NM_004168.4(SDHA):c.1794+6_1794+7dup
|
|
|
|
NM_004168.4(SDHA):c.1794+7C>T
|
|
|
|
NM_004168.4(SDHA):c.1794+8T>G
|
rs1050394308
|
|
|
NM_004168.4(SDHA):c.1794G>A (p.Lys598=)
|
rs1554001975
|
|
|
NM_004168.4(SDHA):c.1795-1G>T
|
rs778516878
|
|
|
NM_004168.4(SDHA):c.1795-5C>T
|
rs1169912956
|
|
|
NM_004168.4(SDHA):c.1795-6C>A
|
rs756792828
|
|
|
NM_004168.4(SDHA):c.1797G>A (p.Val599=)
|
rs1060505012
|
|
|
NM_004168.4(SDHA):c.17G>C (p.Gly6Ala)
|
rs187964306
|
|
|
NM_004168.4(SDHA):c.17G>T (p.Gly6Val)
|
rs187964306
|
|
|
NM_004168.4(SDHA):c.17_18insA (p.Leu7fs)
|
|
|
|
NM_004168.4(SDHA):c.1804G>A (p.Asp602Asn)
|
rs1737043619
|
|
|
NM_004168.4(SDHA):c.1806T>C (p.Asp602=)
|
rs1554002427
|
|
|
NM_004168.4(SDHA):c.1808A>G (p.Glu603Gly)
|
rs1737044250
|
|
|
NM_004168.4(SDHA):c.1811A>G (p.Tyr604Cys)
|
rs1737044552
|
|
|
NM_004168.4(SDHA):c.1812C>T (p.Tyr604=)
|
rs1436919553
|
|
|
NM_004168.4(SDHA):c.1813G>C (p.Asp605His)
|
rs771593214
|
|
|
NM_004168.4(SDHA):c.1816T>A (p.Tyr606Asn)
|
rs17400614
|
|
|
NM_004168.4(SDHA):c.181G>C (p.Glu61Gln)
|
|
|
|
NM_004168.4(SDHA):c.181G>T (p.Glu61Ter)
|
rs1734884330
|
|
|
NM_004168.4(SDHA):c.1825C>T (p.Pro609Ser)
|
rs1737046014
|
|
|
NM_004168.4(SDHA):c.1826C>G (p.Pro609Arg)
|
rs2126641323
|
|
|
NM_004168.4(SDHA):c.1827C>T (p.Pro609=)
|
rs1060505006
|
|
|
NM_004168.4(SDHA):c.1828A>G (p.Ile610Val)
|
rs1554002446
|
|
|
NM_004168.4(SDHA):c.1830C>G (p.Ile610Met)
|
rs1209697697
|
|
|
NM_004168.4(SDHA):c.1832A>G (p.Gln611Arg)
|
rs1737046877
|
|
|
NM_004168.4(SDHA):c.1834G>A (p.Gly612Arg)
|
rs1737047578
|
|
|
NM_004168.4(SDHA):c.1835G>A (p.Gly612Glu)
|
rs1057523336
|
|
|
NM_004168.4(SDHA):c.1842G>A (p.Gln614=)
|
rs2126641413
|
|
|
NM_004168.4(SDHA):c.1843AAG[1] (p.Lys616del)
|
rs1737048556
|
|
|
NM_004168.4(SDHA):c.1845G>A (p.Lys615=)
|
rs1442827207
|
|
|
NM_004168.4(SDHA):c.1846A>G (p.Lys616Glu)
|
rs1453752069
|
|
|
NM_004168.4(SDHA):c.1846A>T (p.Lys616Ter)
|
|
|
|
NM_004168.4(SDHA):c.1849C>T (p.Pro617Ser)
|
rs1199988395
|
|
|
NM_004168.4(SDHA):c.1850C>T (p.Pro617Leu)
|
rs1485754812
|
|
|
NM_004168.4(SDHA):c.1857G>A (p.Glu619=)
|
rs1247081812
|
|
|
NM_004168.4(SDHA):c.1861C>G (p.His621Asp)
|
rs1554002475
|
|
|
NM_004168.4(SDHA):c.1862A>G (p.His621Arg)
|
rs1737050290
|
|
|
NM_004168.4(SDHA):c.1863C>G (p.His621Gln)
|
rs1554002478
|
|
|
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter)
|
rs1579445179
|
|
|
NM_004168.4(SDHA):c.1871A>G (p.Lys624Arg)
|
rs1579445190
|
|
|
NM_004168.4(SDHA):c.1873C>T (p.His625Tyr)
|
rs1554002483
|
|
|
NM_004168.4(SDHA):c.1875C>T (p.His625=)
|
rs1579445214
|
|
|
NM_004168.4(SDHA):c.1878C>T (p.Thr626=)
|
rs1579445226
|
|
|
NM_004168.4(SDHA):c.1880T>G (p.Leu627Arg)
|
rs1737051659
|
|
|
NM_004168.4(SDHA):c.1880dup (p.Ser628fs)
|
rs1579445237
|
|
|
NM_004168.4(SDHA):c.1884C>G (p.Ser628=)
|
rs1224468457
|
|
|
NM_004168.4(SDHA):c.1884C>T (p.Ser628=)
|
rs1224468457
|
|
|
NM_004168.4(SDHA):c.1885T>A (p.Tyr629Asn)
|
rs1579445293
|
|
|
NM_004168.4(SDHA):c.1886A>C (p.Tyr629Ser)
|
rs6960
|
|
|
NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys)
|
rs6960
|
|
|
NM_004168.4(SDHA):c.188A>G (p.Asp63Gly)
|
rs1553997327
|
|
|
NM_004168.4(SDHA):c.188A>T (p.Asp63Val)
|
rs1553997327
|
|
|
NM_004168.4(SDHA):c.1890G>A (p.Val630=)
|
rs1405784467
|
|
|
NM_004168.4(SDHA):c.1891G>A (p.Asp631Asn)
|
rs776500078
|
|
|
NM_004168.4(SDHA):c.1893C>A (p.Asp631Glu)
|
rs1364764796
|
|
|
NM_004168.4(SDHA):c.1894G>A (p.Val632Ile)
|
rs369639811
|
|
|
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe)
|
rs369639811
|
|
|
NM_004168.4(SDHA):c.1896T>C (p.Val632=)
|
rs1554002492
|
|
|
NM_004168.4(SDHA):c.1897G>A (p.Gly633Ser)
|
rs2126641674
|
|
|
NM_004168.4(SDHA):c.189T>C (p.Asp63=)
|
rs2126542493
|
|
|
NM_004168.4(SDHA):c.18C>A (p.Gly6=)
|
rs775847689
|
|
|
NM_004168.4(SDHA):c.1900A>G (p.Thr634Ala)
|
rs1017441235
|
|
|
NM_004168.4(SDHA):c.1900A>T (p.Thr634Ser)
|
rs1017441235
|
|
|
NM_004168.4(SDHA):c.1902T>G (p.Thr634=)
|
rs2126641691
|
|
|
NM_004168.4(SDHA):c.1903G>A (p.Gly635Arg)
|
rs1737055056
|
|
|
NM_004168.4(SDHA):c.1908+10G>A
|
rs1579445450
|
|
|
NM_004168.4(SDHA):c.1908+2T>C
|
rs1737056056
|
|
|
NM_004168.4(SDHA):c.1908+8T>G
|
rs2126641731
|
|
|
NM_004168.4(SDHA):c.1908+9G>A
|
rs767578208
|
|
|
NM_004168.4(SDHA):c.1908G>T (p.Lys636Asn)
|
rs1244151760
|
|
|
NM_004168.4(SDHA):c.1909-11T>G
|
rs2126645679
|
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
|
NM_004168.4(SDHA):c.1909-15A>C
|
rs1189118840
|
|
|
NM_004168.4(SDHA):c.1909-15A>G
|
|
|
|
NM_004168.4(SDHA):c.1909-16G>A
|
|
|
|
NM_004168.4(SDHA):c.1909-16_1909-13del
|
rs2126645630
|
|
|
NM_004168.4(SDHA):c.1909-19A>T
|
|
|
|
NM_004168.4(SDHA):c.1909-1G>A
|
rs1159597886
|
|
|
NM_004168.4(SDHA):c.1909-20C>A
|
rs1737178548
|
|
|
NM_004168.4(SDHA):c.1909-3A>G
|
|
|
|
NM_004168.4(SDHA):c.1909-5T>G
|
rs1197849830
|
|
|
NM_004168.4(SDHA):c.1909-6T>C
|
|
|
|
NM_004168.4(SDHA):c.1909-8_1909-4del
|
rs1737179400
|
|
|
NM_004168.4(SDHA):c.1909-9C>G
|
|
|
|
NM_004168.4(SDHA):c.1909-9C>T
|
rs2126645687
|
|
|
NM_004168.4(SDHA):c.1909-9_1909-7del
|
|
|
|
NM_004168.4(SDHA):c.1909G>A (p.Val637Ile)
|
rs769599373
|
|
|
NM_004168.4(SDHA):c.190G>A (p.Ala64Thr)
|
rs1734884655
|
|
|
NM_004168.4(SDHA):c.1910T>C (p.Val637Ala)
|
rs1737179959
|
|
|
NM_004168.4(SDHA):c.1913C>G (p.Thr638Ser)
|
rs370133236
|
|
|
NM_004168.4(SDHA):c.1913del (p.Thr638fs)
|
rs1554002857
|
|
|
NM_004168.4(SDHA):c.1914T>C (p.Thr638=)
|
rs2126645757
|
|
|
NM_004168.4(SDHA):c.1918G>C (p.Glu640Gln)
|
|
|
|
NM_004168.4(SDHA):c.1920A>G (p.Glu640=)
|
rs2126645771
|
|
|
NM_004168.4(SDHA):c.1922A>G (p.Tyr641Cys)
|
|
|
|
NM_004168.4(SDHA):c.1926A>G (p.Arg642=)
|
rs1554002873
|
|
|
NM_004168.4(SDHA):c.1927C>A (p.Pro643Thr)
|
rs1579448568
|
|
|
NM_004168.4(SDHA):c.1927C>T (p.Pro643Ser)
|
rs1579448568
|
|
|
NM_004168.4(SDHA):c.192A>G (p.Ala64=)
|
|
|
|
NM_004168.4(SDHA):c.1931T>G (p.Val644Gly)
|
|
|
|
NM_004168.4(SDHA):c.1933A>G (p.Ile645Val)
|
|
|
|
NM_004168.4(SDHA):c.1935C>A (p.Ile645=)
|
rs762128553
|
|
|
NM_004168.4(SDHA):c.1935C>T (p.Ile645=)
|
rs762128553
|
|
|
NM_004168.4(SDHA):c.1938C>T (p.Asp646=)
|
|
|
|
NM_004168.4(SDHA):c.193G>T (p.Val65Leu)
|
|
|
|
NM_004168.4(SDHA):c.1940A>G (p.Lys647Arg)
|
rs1737186768
|
|
|
NM_004168.4(SDHA):c.1943del (p.Thr648fs)
|
rs2126645882
|
|
|
NM_004168.4(SDHA):c.1945T>G (p.Leu649Val)
|
rs1737187966
|
|
|
NM_004168.4(SDHA):c.1946T>C (p.Leu649Ser)
|
|
|
|
NM_004168.4(SDHA):c.1946T>G (p.Leu649Trp)
|
rs899598021
|
|
|
NM_004168.4(SDHA):c.194T>C (p.Val65Ala)
|
|
|
|
NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln)
|
rs375396913
|
|
|
NM_004168.4(SDHA):c.1951del (p.Glu651fs)
|
rs1561016316
|
|
|
NM_004168.4(SDHA):c.1952A>G (p.Glu651Gly)
|
rs1737189246
|
|
|
NM_004168.4(SDHA):c.1953G>A (p.Glu651=)
|
rs1579448683
|
|
|
NM_004168.4(SDHA):c.1953G>T (p.Glu651Asp)
|
rs1579448683
|
|
|
NM_004168.4(SDHA):c.1954G>A (p.Ala652Thr)
|
rs1737189728
|
|
|
NM_004168.4(SDHA):c.1955C>T (p.Ala652Val)
|
rs1554002888
|
|
|
NM_004168.4(SDHA):c.1956T>C (p.Ala652=)
|
|
|
|
NM_004168.4(SDHA):c.1958A>C (p.Asp653Ala)
|
rs1737190360
|
|
|
NM_004168.4(SDHA):c.1958A>G (p.Asp653Gly)
|
|
|
|
NM_004168.4(SDHA):c.1958A>T (p.Asp653Val)
|
rs1737190360
|
|
|
NM_004168.4(SDHA):c.1959C>T (p.Asp653=)
|
|
|
|
NM_004168.4(SDHA):c.195G>A (p.Val65=)
|
rs2126542556
|
|
|
NM_004168.4(SDHA):c.1960T>A (p.Cys654Ser)
|
|
|
|
NM_004168.4(SDHA):c.1961G>C (p.Cys654Ser)
|
rs1554002895
|
|
|
NM_004168.4(SDHA):c.1962_1963del (p.Ala655fs)
|
rs2126645995
|
|
|
NM_004168.4(SDHA):c.1963G>C (p.Ala655Pro)
|
|
|
|
NM_004168.4(SDHA):c.1964C>T (p.Ala655Val)
|
|
|
|
NM_004168.4(SDHA):c.1966A>C (p.Thr656Pro)
|
|
|
|
NM_004168.4(SDHA):c.1972C>A (p.Pro658Thr)
|
rs2126646066
|
|
|
NM_004168.4(SDHA):c.1974G>C (p.Pro658=)
|
rs1042446
|
|
|
NM_004168.4(SDHA):c.1975C>G (p.Pro659Ala)
|
|
|
|
NM_004168.4(SDHA):c.1977A>G (p.Pro659=)
|
rs768693502
|
|
|
NM_004168.4(SDHA):c.1979C>T (p.Ala660Val)
|
rs191412461
|
|
|
NM_004168.4(SDHA):c.1982T>C (p.Ile661Thr)
|
|
|
|
NM_004168.4(SDHA):c.1984C>T (p.Arg662Cys)
|
rs1737195067
|
|
|
NM_004168.4(SDHA):c.1986C>G (p.Arg662=)
|
rs762372686
|
|
|
NM_004168.4(SDHA):c.1986C>T (p.Arg662=)
|
|
|
|
NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe)
|
rs1060503719
|
|
|
NM_004168.4(SDHA):c.1989C>G (p.Ser663=)
|
rs1554002913
|
|
|
NM_004168.4(SDHA):c.1989C>T (p.Ser663=)
|
rs1554002913
|
|
|
NM_004168.4(SDHA):c.1990T>C (p.Tyr664His)
|
|
|
|
NM_004168.4(SDHA):c.199G>A (p.Val67Ile)
|
|
|
|
NM_004168.4(SDHA):c.19C>G (p.Leu7Val)
|
rs760964443
|
|
|
NM_004168.4(SDHA):c.1A>C (p.Met1Leu)
|
rs1061517
|
|
|
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)
|
rs1061517
|
|
|
NM_004168.4(SDHA):c.1del (p.Met1fs)
|
rs1085307796
|
|
|
NM_004168.4(SDHA):c.200T>C (p.Val67Ala)
|
|
|
|
NM_004168.4(SDHA):c.202G>A (p.Gly68Ser)
|
|
|
|
NM_004168.4(SDHA):c.204C>T (p.Gly68=)
|
rs1055082816
|
|
|
NM_004168.4(SDHA):c.205G>T (p.Ala69Ser)
|
|
|
|
NM_004168.4(SDHA):c.209G>C (p.Gly70Ala)
|
rs2126542624
|
|
|
NM_004168.4(SDHA):c.20T>C (p.Leu7Pro)
|
rs1734500083
|
|
|
NM_004168.4(SDHA):c.210A>G (p.Gly70=)
|
|
|
|
NM_004168.4(SDHA):c.211G>A (p.Gly71Arg)
|
rs1734887299
|
|
|
NM_004168.4(SDHA):c.214dup (p.Ala72fs)
|
rs1734887425
|
|
|
NM_004168.4(SDHA):c.215C>T (p.Ala72Val)
|
rs1204881025
|
|
|
NM_004168.4(SDHA):c.216A>G (p.Ala72=)
|
rs1734887844
|
|
|
NM_004168.4(SDHA):c.217G>A (p.Gly73Ser)
|
|
|
|
NM_004168.4(SDHA):c.218G>T (p.Gly73Val)
|
rs1553997347
|
|
|
NM_004168.4(SDHA):c.220T>C (p.Leu74=)
|
|
|
|
NM_004168.4(SDHA):c.221T>C (p.Leu74Ser)
|
rs763220651
|
|
|
NM_004168.4(SDHA):c.222G>C (p.Leu74Phe)
|
|
|
|
NM_004168.4(SDHA):c.224G>C (p.Arg75Pro)
|
|
|
|
NM_004168.4(SDHA):c.227C>T (p.Ala76Val)
|
rs1734888838
|
|
|
NM_004168.4(SDHA):c.22T>C (p.Ser8Pro)
|
rs768328967
|
|
|
NM_004168.4(SDHA):c.233T>C (p.Phe78Ser)
|
|
|
|
NM_004168.4(SDHA):c.236G>A (p.Gly79Asp)
|
rs759568419
|
|
|
NM_004168.4(SDHA):c.23C>A (p.Ser8Ter)
|
rs878854631
|
|
|
NM_004168.4(SDHA):c.23C>T (p.Ser8Leu)
|
rs878854631
|
|
|
NM_004168.4(SDHA):c.240T>C (p.Leu80=)
|
rs2126542884
|
|
|
NM_004168.4(SDHA):c.242C>T (p.Ser81Phe)
|
rs1553997357
|
|
|
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer)
|
rs2126542910
|
|
|
NM_004168.4(SDHA):c.243T>C (p.Ser81=)
|
|
|
|
NM_004168.4(SDHA):c.245_252del (p.Glu82fs)
|
rs1734890180
|
|
|
NM_004168.4(SDHA):c.249A>C (p.Ala83=)
|
|
|
|
NM_004168.4(SDHA):c.249A>G (p.Ala83=)
|
rs1560986107
|
|
|
NM_004168.4(SDHA):c.24G>C (p.Ser8=)
|
rs1060505007
|
|
|
NM_004168.4(SDHA):c.250G>A (p.Gly84Arg)
|
rs2126542993
|
|
|
NM_004168.4(SDHA):c.250G>C (p.Gly84Arg)
|
|
|
|
NM_004168.4(SDHA):c.251G>A (p.Gly84Glu)
|
rs199615452
|
|
|
NM_004168.4(SDHA):c.252G>A (p.Gly84=)
|
rs753293451
|
|
|
NM_004168.4(SDHA):c.252G>C (p.Gly84=)
|
rs753293451
|
|
|
NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer)
|
rs1560986132
|
|
|
NM_004168.4(SDHA):c.256A>G (p.Asn86Asp)
|
rs200519133
|
|
|
NM_004168.4(SDHA):c.257A>G (p.Asn86Ser)
|
rs2126543056
|
|
|
NM_004168.4(SDHA):c.25C>G (p.Arg9Gly)
|
rs776218604
|
|
|
NM_004168.4(SDHA):c.261A>C (p.Thr87=)
|
|
|
|
NM_004168.4(SDHA):c.261A>G (p.Thr87=)
|
rs2126543070
|
|
|
NM_004168.4(SDHA):c.262G>A (p.Ala88Thr)
|
rs2126543077
|
|
|
NM_004168.4(SDHA):c.263C>A (p.Ala88Glu)
|
|
|
|
NM_004168.4(SDHA):c.263C>G (p.Ala88Gly)
|
rs1734891785
|
|
|
NM_004168.4(SDHA):c.263C>T (p.Ala88Val)
|
rs1734891785
|
|
|
NM_004168.4(SDHA):c.264A>G (p.Ala88=)
|
|
|
|
NM_004168.4(SDHA):c.266G>A (p.Cys89Tyr)
|
rs138016874
|
|
|
NM_004168.4(SDHA):c.267T>A (p.Cys89Ter)
|
rs1579381753
|
|
|
NM_004168.4(SDHA):c.268G>A (p.Val90Ile)
|
rs2126543120
|
|
|
NM_004168.4(SDHA):c.269T>C (p.Val90Ala)
|
rs886060514
|
|
|
NM_004168.4(SDHA):c.26G>A (p.Arg9Gln)
|
rs761508577
|
|
|
NM_004168.4(SDHA):c.26G>T (p.Arg9Leu)
|
rs761508577
|
|
|
NM_004168.4(SDHA):c.272C>T (p.Thr91Ile)
|
|
|
|
NM_004168.4(SDHA):c.273C>A (p.Thr91=)
|
rs2126543162
|
|
|
NM_004168.4(SDHA):c.274A>C (p.Lys92Gln)
|
rs1734892884
|
|
|
NM_004168.4(SDHA):c.275A>G (p.Lys92Arg)
|
rs778267118
|
|
|
NM_004168.4(SDHA):c.276G>A (p.Lys92=)
|
rs375298039
|
|
|
NM_004168.4(SDHA):c.276G>C (p.Lys92Asn)
|
rs375298039
|
|
|
NM_004168.4(SDHA):c.278T>C (p.Leu93Pro)
|
rs1326611328
|
|
|
NM_004168.4(SDHA):c.279G>A (p.Leu93=)
|
rs1579381802
|
|
|
NM_004168.4(SDHA):c.27G>A (p.Arg9=)
|
rs2126522501
|
|
|
NM_004168.4(SDHA):c.283C>G (p.Pro95Ala)
|
|
|
|
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg)
|
rs1553997377
|
|
|
NM_004168.4(SDHA):c.285T>C (p.Pro95=)
|
rs2126543225
|
|
|
NM_004168.4(SDHA):c.286A>G (p.Thr96Ala)
|
|
|
|
NM_004168.4(SDHA):c.28C>T (p.Leu10=)
|
rs879099314
|
|
|
NM_004168.4(SDHA):c.28del (p.Leu10fs)
|
rs1579369841
|
|
|
NM_004168.4(SDHA):c.291G>A (p.Arg97=)
|
|
|
|
NM_004168.4(SDHA):c.293C>T (p.Ser98Leu)
|
rs1579381851
|
|
|
NM_004168.4(SDHA):c.296A>G (p.His99Arg)
|
rs1579381882
|
|
|
NM_004168.4(SDHA):c.297C>T (p.His99=)
|
|
|
|
NM_004168.4(SDHA):c.298_299del (p.Thr100fs)
|
rs2126543272
|
|
|
NM_004168.4(SDHA):c.29T>C (p.Leu10Pro)
|
rs2126522536
|
|
|
NM_004168.4(SDHA):c.2T>A (p.Met1Lys)
|
rs750380279
|
|
|
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)
|
rs750380279
|
|
|
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)
|
rs750380279
|
|
|
NM_004168.4(SDHA):c.301G>T (p.Val101Phe)
|
|
|
|
NM_004168.4(SDHA):c.303T>C (p.Val101=)
|
|
|
|
NM_004168.4(SDHA):c.303T>G (p.Val101=)
|
rs2126543357
|
|
|
NM_004168.4(SDHA):c.304G>C (p.Ala102Pro)
|
|
|
|
NM_004168.4(SDHA):c.304_305delinsAT (p.Ala102Ile)
|
rs1734896344
|
|
|
NM_004168.4(SDHA):c.304dup (p.Ala102fs)
|
|
|
|
NM_004168.4(SDHA):c.305C>T (p.Ala102Val)
|
rs1240528592
|
|
|
NM_004168.4(SDHA):c.306A>G (p.Ala102=)
|
rs2126543388
|
|
|
NM_004168.4(SDHA):c.306A>T (p.Ala102=)
|
rs2126543388
|
|
|
NM_004168.4(SDHA):c.307G>A (p.Ala103Thr)
|
rs1553997389
|
|
|
NM_004168.4(SDHA):c.308C>T (p.Ala103Val)
|
|
|
|
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val)
|
|
|
|
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter)
|
rs1423978863
|
|
|
NM_004168.4(SDHA):c.310_311dup (p.Gln104fs)
|
rs876658637
|
|
|
NM_004168.4(SDHA):c.312+11G>C
|
rs2126543478
|
|
|
NM_004168.4(SDHA):c.312+12G>T
|
|
|
|
NM_004168.4(SDHA):c.312+15C>A
|
rs1180146041
|
|
|
NM_004168.4(SDHA):c.312+16C>G
|
|
|
|
NM_004168.4(SDHA):c.312+17C>T
|
rs1734898561
|
|
|
NM_004168.4(SDHA):c.312+18C>T
|
|
|
|
NM_004168.4(SDHA):c.312+19A>G
|
|
|
|
NM_004168.4(SDHA):c.312+19A>T
|
|
|
|
NM_004168.4(SDHA):c.312+1G>A
|
rs2126543441
|
|
|
NM_004168.4(SDHA):c.312+20C>A
|
rs111533078
|
|
|
NM_004168.4(SDHA):c.312+4A>C
|
|
|
|
NM_004168.4(SDHA):c.312+5G>C
|
|
|
|
NM_004168.4(SDHA):c.312+7G>C
|
rs2126543454
|
|
|
NM_004168.4(SDHA):c.312+7G>T
|
rs2126543454
|
|
|
NM_004168.4(SDHA):c.312G>A (p.Gln104=)
|
rs2126543437
|
|
|
NM_004168.4(SDHA):c.313-10G>A
|
rs1579383848
|
|
|
NM_004168.4(SDHA):c.313-11G>A
|
rs1734951831
|
|
|
NM_004168.4(SDHA):c.313-12del
|
|
|
|
NM_004168.4(SDHA):c.313-13T>C
|
|
|
|
NM_004168.4(SDHA):c.313-18A>C
|
rs1579383789
|
|
|
NM_004168.4(SDHA):c.313-3C>T
|
rs1553997584
|
|
|
NM_004168.4(SDHA):c.313-4C>G
|
rs1368657380
|
|
|
NM_004168.4(SDHA):c.313-4C>T
|
rs1368657380
|
|
|
NM_004168.4(SDHA):c.313-6T>C
|
rs1579383890
|
|
|
NM_004168.4(SDHA):c.313G>A (p.Gly105Arg)
|
rs2126546583
|
|
|
NM_004168.4(SDHA):c.314_315delinsTT (p.Gly105Val)
|
rs1734953252
|
|
|
NM_004168.4(SDHA):c.316G>C (p.Gly106Arg)
|
rs1579383936
|
|
|
NM_004168.4(SDHA):c.318A>T (p.Gly106=)
|
|
|
|
NM_004168.4(SDHA):c.319A>G (p.Ile107Val)
|
rs1060503720
|
|
|
NM_004168.4(SDHA):c.31C>T (p.Leu11=)
|
|
|
|
NM_004168.4(SDHA):c.320T>A (p.Ile107Asn)
|
rs1734953616
|
|
|
NM_004168.4(SDHA):c.320T>G (p.Ile107Ser)
|
rs1734953616
|
|
|
NM_004168.4(SDHA):c.321C>G (p.Ile107Met)
|
rs1734953765
|
|
|
NM_004168.4(SDHA):c.322A>G (p.Asn108Asp)
|
|
|
|
NM_004168.4(SDHA):c.322_323del (p.Asn108fs)
|
rs2126546657
|
|
|
NM_004168.4(SDHA):c.329C>T (p.Ala110Val)
|
|
|
|
NM_004168.4(SDHA):c.32T>A (p.Leu11Gln)
|
rs1139422
|
|
|
NM_004168.4(SDHA):c.32T>G (p.Leu11Arg)
|
|
|
|
NM_004168.4(SDHA):c.334G>A (p.Gly112Arg)
|
rs751114575
|
|
|
NM_004168.4(SDHA):c.336G>A (p.Gly112=)
|
|
|
|
NM_004168.4(SDHA):c.336G>C (p.Gly112=)
|
rs375645919
|
|
|
NM_004168.4(SDHA):c.336del (p.Asn113fs)
|
|
|
|
NM_004168.4(SDHA):c.337A>G (p.Asn113Asp)
|
rs1450249875
|
|
|
NM_004168.4(SDHA):c.338A>C (p.Asn113Thr)
|
rs1734955271
|
|
|
NM_004168.4(SDHA):c.338A>G (p.Asn113Ser)
|
rs1734955271
|
|
|
NM_004168.4(SDHA):c.338A>T (p.Asn113Ile)
|
rs1734955271
|
|
|
NM_004168.4(SDHA):c.339C>T (p.Asn113=)
|
|
|
|
NM_004168.4(SDHA):c.33G>T (p.Leu11=)
|
rs1139423
|
|
|
NM_004168.4(SDHA):c.341T>A (p.Met114Lys)
|
|
|
|
NM_004168.4(SDHA):c.342GGA[2] (p.Glu116del)
|
rs1734955897
|
|
|
NM_004168.4(SDHA):c.345G>A (p.Glu115=)
|
rs368286780
|
|
|
NM_004168.4(SDHA):c.345G>C (p.Glu115Asp)
|
rs368286780
|
|
|
NM_004168.4(SDHA):c.347A>G (p.Glu116Gly)
|
|
|
|
NM_004168.4(SDHA):c.348G>A (p.Glu116=)
|
rs2126546824
|
|
|
NM_004168.4(SDHA):c.349G>A (p.Asp117Asn)
|
rs2126546832
|
|
|
NM_004168.4(SDHA):c.34A>G (p.Ser12Gly)
|
rs1734501874
|
|
|
NM_004168.4(SDHA):c.350A>G (p.Asp117Gly)
|
rs1579384062
|
|
|
NM_004168.4(SDHA):c.351C>T (p.Asp117=)
|
rs1579384072
|
|
|
NM_004168.4(SDHA):c.351del (p.Asp117fs)
|
|
|
|
NM_004168.4(SDHA):c.353A>G (p.Asn118Ser)
|
rs987288514
|
|
|
NM_004168.4(SDHA):c.354C>T (p.Asn118=)
|
rs923803277
|
|
|
NM_004168.4(SDHA):c.355T>C (p.Trp119Arg)
|
rs1734957208
|
|
|
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter)
|
rs1734957331
|
|
|
NM_004168.4(SDHA):c.359G>A (p.Arg120Lys)
|
rs2126546923
|
|
|
NM_004168.4(SDHA):c.364C>A (p.His122Asn)
|
|
|
|
NM_004168.4(SDHA):c.365A>G (p.His122Arg)
|
rs1579384131
|
|
|
NM_004168.4(SDHA):c.368T>G (p.Phe123Cys)
|
|
|
|
NM_004168.4(SDHA):c.369C>G (p.Phe123Leu)
|
rs1579384137
|
|
|
NM_004168.4(SDHA):c.36C>A (p.Ser12Arg)
|
rs1734502045
|
|
|
NM_004168.4(SDHA):c.370T>C (p.Tyr124His)
|
rs2126546996
|
|
|
NM_004168.4(SDHA):c.371_372inv (p.Tyr124Cys)
|
|
|
|
NM_004168.4(SDHA):c.373G>C (p.Asp125His)
|
rs780654623
|
|
|
NM_004168.4(SDHA):c.377C>T (p.Thr126Ile)
|
|
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
|
NM_004168.4(SDHA):c.37G>A (p.Ala13Thr)
|
|
|
|
NM_004168.4(SDHA):c.386G>A (p.Gly129Asp)
|
rs2126547166
|
|
|
NM_004168.4(SDHA):c.387C>T (p.Gly129=)
|
|
|
|
NM_004168.4(SDHA):c.389C>G (p.Ser130Cys)
|
rs1553997625
|
|
|
NM_004168.4(SDHA):c.38C>A (p.Ala13Asp)
|
|
|
|
NM_004168.4(SDHA):c.392A>G (p.Asp131Gly)
|
rs2126547239
|
|
|
NM_004168.4(SDHA):c.392_396dup (p.Leu133fs)
|
rs2126547233
|
|
|
NM_004168.4(SDHA):c.396G>T (p.Trp132Cys)
|
rs1734960239
|
|
|
NM_004168.4(SDHA):c.397C>G (p.Leu133Val)
|
rs2126547261
|
|
|
NM_004168.4(SDHA):c.397C>T (p.Leu133=)
|
rs2126547261
|
|
|
NM_004168.4(SDHA):c.39T>C (p.Ala13=)
|
rs2126522607
|
|
|
NM_004168.4(SDHA):c.3G>A (p.Met1Ile)
|
|
|
|
NM_004168.4(SDHA):c.3G>C (p.Met1Ile)
|
rs2126522051
|
|
|
NM_004168.4(SDHA):c.3G>T (p.Met1Ile)
|
rs2126522051
|
|
|
NM_004168.4(SDHA):c.401G>T (p.Gly134Val)
|
|
|
|
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn)
|
rs1734960553
|
|
|
NM_004168.4(SDHA):c.403del (p.Asp135fs)
|
|
|
|
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu)
|
rs1365359024
|
|
|
NM_004168.4(SDHA):c.407A>T (p.Gln136Leu)
|
rs876660259
|
|
|
NM_004168.4(SDHA):c.409G>T (p.Asp137Tyr)
|
rs1734961262
|
|
|
NM_004168.4(SDHA):c.40C>A (p.Arg14=)
|
rs1192077362
|
|
|
NM_004168.4(SDHA):c.40C>G (p.Arg14Gly)
|
rs1192077362
|
|
|
NM_004168.4(SDHA):c.40C>T (p.Arg14Trp)
|
rs1192077362
|
|
|
NM_004168.4(SDHA):c.410A>T (p.Asp137Val)
|
|
|
|
NM_004168.4(SDHA):c.411T>A (p.Asp137Glu)
|
rs1444399160
|
|
|
NM_004168.4(SDHA):c.411T>G (p.Asp137Glu)
|
rs1444399160
|
|
|
NM_004168.4(SDHA):c.412G>A (p.Ala138Thr)
|
|
|
|
NM_004168.4(SDHA):c.412G>T (p.Ala138Ser)
|
|
|
|
NM_004168.4(SDHA):c.413C>T (p.Ala138Val)
|
rs1342456775
|
|
|
NM_004168.4(SDHA):c.414C>T (p.Ala138=)
|
rs1219265195
|
|
|
NM_004168.4(SDHA):c.415A>G (p.Ile139Val)
|
|
|
|
NM_004168.4(SDHA):c.418C>T (p.His140Tyr)
|
|
|
|
NM_004168.4(SDHA):c.419A>G (p.His140Arg)
|
rs759266253
|
|
|
NM_004168.4(SDHA):c.41G>C (p.Arg14Pro)
|
|
|
|
NM_004168.4(SDHA):c.420C>T (p.His140=)
|
rs747232441
|
|
|
NM_004168.4(SDHA):c.421T>C (p.Tyr141His)
|
rs1553997643
|
|
|
NM_004168.4(SDHA):c.421T>G (p.Tyr141Asp)
|
rs1553997643
|
|
|
NM_004168.4(SDHA):c.424A>C (p.Met142Leu)
|
rs776848209
|
|
|
NM_004168.4(SDHA):c.425_426delinsAC (p.Met142Asn)
|
rs2126547518
|
|
|
NM_004168.4(SDHA):c.428C>T (p.Thr143Met)
|
rs200675907
|
|
|
NM_004168.4(SDHA):c.429G>T (p.Thr143=)
|
rs906281170
|
|
|
NM_004168.4(SDHA):c.431A>C (p.Glu144Ala)
|
|
|
|
NM_004168.4(SDHA):c.434A>G (p.Gln145Arg)
|
|
|
|
NM_004168.4(SDHA):c.436G>A (p.Ala146Thr)
|
|
|
|
NM_004168.4(SDHA):c.436G>C (p.Ala146Pro)
|
|
|
|
NM_004168.4(SDHA):c.437C>T (p.Ala146Val)
|
rs1060503714
|
|
|
NM_004168.4(SDHA):c.440C>A (p.Pro147His)
|
rs763191656
|
|
|
NM_004168.4(SDHA):c.441C>A (p.Pro147=)
|
rs201453889
|
|
|
NM_004168.4(SDHA):c.442G>T (p.Ala148Ser)
|
rs375576259
|
|
|
NM_004168.4(SDHA):c.444C>G (p.Ala148=)
|
rs367618662
|
|
|
NM_004168.4(SDHA):c.446C>T (p.Ala149Val)
|
rs1060503709
|
|
|
NM_004168.4(SDHA):c.447C>A (p.Ala149=)
|
|
|
|
NM_004168.4(SDHA):c.447C>G (p.Ala149=)
|
rs752187837
|
|
|
NM_004168.4(SDHA):c.447del (p.Val150fs)
|
rs2126547751
|
|
|
NM_004168.4(SDHA):c.44G>C (p.Arg15Pro)
|
rs1060503707
|
|
|
NM_004168.4(SDHA):c.44G>T (p.Arg15Leu)
|
|
|
|
NM_004168.4(SDHA):c.450G>A (p.Val150=)
|
rs1734965281
|
|
|
NM_004168.4(SDHA):c.450G>C (p.Val150=)
|
|
|
|
NM_004168.4(SDHA):c.453C>G (p.Val151=)
|
rs138917116
|
|
|
NM_004168.4(SDHA):c.453C>T (p.Val151=)
|
rs138917116
|
|
|
NM_004168.4(SDHA):c.454G>C (p.Glu152Gln)
|
rs778737664
|
|
|
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter)
|
rs778737664
|
|
|
NM_004168.4(SDHA):c.456+11G>A
|
|
|
|
NM_004168.4(SDHA):c.456+12G>C
|
|
|
|
NM_004168.4(SDHA):c.456+14G>A
|
|
|
|
NM_004168.4(SDHA):c.456+15G>A
|
rs2126547940
|
|
|
NM_004168.4(SDHA):c.456+15G>T
|
|
|
|
NM_004168.4(SDHA):c.456+17T>G
|
|
|
|
NM_004168.4(SDHA):c.456+18C>T
|
|
|
|
NM_004168.4(SDHA):c.456+19T>C
|
rs2126547979
|
|
|
NM_004168.4(SDHA):c.456+1G>A
|
rs1579384604
|
|
|
NM_004168.4(SDHA):c.456+1G>T
|
rs1579384604
|
|
|
NM_004168.4(SDHA):c.456+20G>A
|
|
|
|
NM_004168.4(SDHA):c.456+3G>T
|
rs1362754028
|
|
|
NM_004168.4(SDHA):c.456+3_456+4delinsCT
|
rs1734966566
|
|
|
NM_004168.4(SDHA):c.456+4A>T
|
|
|
|
NM_004168.4(SDHA):c.456+4del
|
|
|
|
NM_004168.4(SDHA):c.456+6G>C
|
|
|
|
NM_004168.4(SDHA):c.456+7G>A
|
|
|
|
NM_004168.4(SDHA):c.456+8G>A
|
rs2126547879
|
|
|
NM_004168.4(SDHA):c.456+9C>G
|
rs200565489
|
|
|
NM_004168.4(SDHA):c.456G>A (p.Glu152=)
|
rs1579384590
|
|
|
NM_004168.4(SDHA):c.457-10T>C
|
|
|
|
NM_004168.4(SDHA):c.457-11A>T
|
|
|
|
NM_004168.4(SDHA):c.457-12del
|
rs2126549133
|
|
|
NM_004168.4(SDHA):c.457-15T>C
|
|
|
|
NM_004168.4(SDHA):c.457-17G>T
|
|
|
|
NM_004168.4(SDHA):c.457-18_457-3dup
|
rs1421256041
|
|
|
NM_004168.4(SDHA):c.457-1G>A
|
|
|
|
NM_004168.4(SDHA):c.457-2A>G
|
rs2126549179
|
|
|
NM_004168.4(SDHA):c.457-2_457del
|
rs878854632
|
|
|
NM_004168.4(SDHA):c.457-3C>T
|
|
|
|
NM_004168.4(SDHA):c.457-4A>T
|
|
|
|
NM_004168.4(SDHA):c.457-9C>T
|
rs2126549145
|
|
|
NM_004168.4(SDHA):c.457C>T (p.Leu153=)
|
|
|
|
NM_004168.4(SDHA):c.459A>G (p.Leu153=)
|
rs2126549200
|
|
|
NM_004168.4(SDHA):c.45C>T (p.Arg15=)
|
rs1060505002
|
|
|
NM_004168.4(SDHA):c.460G>A (p.Glu154Lys)
|
rs1560987595
|
|
|
NM_004168.4(SDHA):c.464del (p.Asn155fs)
|
|
|
|
NM_004168.4(SDHA):c.465T>G (p.Asn155Lys)
|
|
|
|
NM_004168.4(SDHA):c.466T>C (p.Tyr156His)
|
|
|
|
NM_004168.4(SDHA):c.466del (p.Tyr156fs)
|
|
|
|
NM_004168.4(SDHA):c.467A>G (p.Tyr156Cys)
|
|
|
|
NM_004168.4(SDHA):c.467A>T (p.Tyr156Phe)
|
rs774589410
|
|
|
NM_004168.4(SDHA):c.467dup (p.Tyr156Ter)
|
rs2126549281
|
|
|
NM_004168.4(SDHA):c.468T>C (p.Tyr156=)
|
rs989318548
|
|
|
NM_004168.4(SDHA):c.468T>G (p.Tyr156Ter)
|
rs989318548
|
|
|
NM_004168.4(SDHA):c.469G>A (p.Gly157Ser)
|
rs1734987233
|
|
|
NM_004168.4(SDHA):c.46C>T (p.Leu16=)
|
rs1579369903
|
|
|
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)
|
rs1560980939
|
|
|
NM_004168.4(SDHA):c.470G>T (p.Gly157Val)
|
|
|
|
NM_004168.4(SDHA):c.472A>G (p.Met158Val)
|
rs2126549328
|
|
|
NM_004168.4(SDHA):c.474G>A (p.Met158Ile)
|
|
|
|
NM_004168.4(SDHA):c.477G>T (p.Pro159=)
|
rs771741537
|
|
|
NM_004168.4(SDHA):c.480T>C (p.Phe160=)
|
rs1060503711
|
|
|
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)
|
rs1060503711
|
|
|
NM_004168.4(SDHA):c.482G>A (p.Ser161Asn)
|
rs2126549411
|
|
|
NM_004168.4(SDHA):c.483C>G (p.Ser161Arg)
|
|
|
|
NM_004168.4(SDHA):c.483C>T (p.Ser161=)
|
rs2126549418
|
|
|
NM_004168.4(SDHA):c.484A>G (p.Arg162Gly)
|
rs1579385526
|
|
|
NM_004168.4(SDHA):c.484del (p.Arg162fs)
|
rs1734988578
|
|
|
NM_004168.4(SDHA):c.485G>C (p.Arg162Thr)
|
rs1579385540
|
|
|
NM_004168.4(SDHA):c.486A>G (p.Arg162=)
|
rs1479127918
|
|
|
NM_004168.4(SDHA):c.488C>A (p.Thr163Asn)
|
rs375067326
|
|
|
NM_004168.4(SDHA):c.48G>A (p.Leu16=)
|
rs2126522691
|
|
|
NM_004168.4(SDHA):c.48G>C (p.Leu16=)
|
rs2126522691
|
|
|
NM_004168.4(SDHA):c.492A>G (p.Glu164=)
|
|
|
|
NM_004168.4(SDHA):c.494A>G (p.Asp165Gly)
|
rs1734989377
|
|
|
NM_004168.4(SDHA):c.494A>T (p.Asp165Val)
|
|
|
|
NM_004168.4(SDHA):c.496G>A (p.Gly166Arg)
|
rs1060503712
|
|
|
NM_004168.4(SDHA):c.497G>A (p.Gly166Glu)
|
|
|
|
NM_004168.4(SDHA):c.498G>A (p.Gly166=)
|
|
|
|
NM_004168.4(SDHA):c.498G>T (p.Gly166=)
|
rs1579385582
|
|
|
NM_004168.4(SDHA):c.49G>A (p.Ala17Thr)
|
|
|
|
NM_004168.4(SDHA):c.4T>C (p.Ser2Pro)
|
rs758327622
|
|
|
NM_004168.4(SDHA):c.4T>G (p.Ser2Ala)
|
rs758327622
|
|
|
NM_004168.4(SDHA):c.502A>G (p.Ile168Val)
|
rs1734989945
|
|
|
NM_004168.4(SDHA):c.503T>C (p.Ile168Thr)
|
rs1553997748
|
|
|
NM_004168.4(SDHA):c.505T>C (p.Tyr169His)
|
rs1553997754
|
|
|
NM_004168.4(SDHA):c.506A>G (p.Tyr169Cys)
|
|
|
|
NM_004168.4(SDHA):c.506A>T (p.Tyr169Phe)
|
|
|
|
NM_004168.4(SDHA):c.508C>A (p.Gln170Lys)
|
rs1579385645
|
|
|
NM_004168.4(SDHA):c.508C>T (p.Gln170Ter)
|
rs1579385645
|
|
|
NM_004168.4(SDHA):c.509A>G (p.Gln170Arg)
|
|
|
|
NM_004168.4(SDHA):c.509A>T (p.Gln170Leu)
|
rs2126549625
|
|
|
NM_004168.4(SDHA):c.50C>A (p.Ala17Glu)
|
|
|
|
NM_004168.4(SDHA):c.510G>C (p.Gln170His)
|
rs1579385651
|
|
|
NM_004168.4(SDHA):c.512G>C (p.Arg171Pro)
|
|
|
|
NM_004168.4(SDHA):c.513T>A (p.Arg171=)
|
|
|
|
NM_004168.4(SDHA):c.514G>A (p.Ala172Thr)
|
rs1734991441
|
|
|
NM_004168.4(SDHA):c.514_517dup (p.Phe173fs)
|
|
|
|
NM_004168.4(SDHA):c.515C>A (p.Ala172Glu)
|
|
|
|
NM_004168.4(SDHA):c.515C>T (p.Ala172Val)
|
rs1734991593
|
|
|
NM_004168.4(SDHA):c.523G>A (p.Gly175Arg)
|
rs753004001
|
|
|
NM_004168.4(SDHA):c.523G>C (p.Gly175Arg)
|
rs753004001
|
|
|
NM_004168.4(SDHA):c.525A>G (p.Gly175=)
|
rs2126549734
|
|
|
NM_004168.4(SDHA):c.528G>C (p.Gln176His)
|
rs769454045
|
|
|
NM_004168.4(SDHA):c.52C>G (p.Leu18Val)
|
rs1553996372
|
|
|
NM_004168.4(SDHA):c.52C>T (p.Leu18=)
|
|
|
|
NM_004168.4(SDHA):c.530G>A (p.Ser177Asn)
|
rs1553997783
|
|
|
NM_004168.4(SDHA):c.530G>T (p.Ser177Ile)
|
|
|
|
NM_004168.4(SDHA):c.531C>G (p.Ser177Arg)
|
|
|
|
NM_004168.4(SDHA):c.531C>T (p.Ser177=)
|
rs756351128
|
|
|
NM_004168.4(SDHA):c.536A>G (p.Lys179Arg)
|
|
|
|
NM_004168.4(SDHA):c.537G>A (p.Lys179=)
|
rs1207914111
|
|
|
NM_004168.4(SDHA):c.539T>C (p.Phe180Ser)
|
|
|
|
NM_004168.4(SDHA):c.53T>A (p.Leu18Gln)
|
|
|
|
NM_004168.4(SDHA):c.540T>C (p.Phe180=)
|
rs2126549842
|
|
|
NM_004168.4(SDHA):c.545A>G (p.Lys182Arg)
|
|
|
|
NM_004168.4(SDHA):c.548G>A (p.Gly183Asp)
|
rs1734993975
|
|
|
NM_004168.4(SDHA):c.54G>A (p.Leu18=)
|
|
|
|
NM_004168.4(SDHA):c.54G>T (p.Leu18=)
|
|
|
|
NM_004168.4(SDHA):c.551G>A (p.Gly184Glu)
|
rs1579385819
|
|
|
NM_004168.4(SDHA):c.551G>C (p.Gly184Ala)
|
rs1579385819
|
|
|
NM_004168.4(SDHA):c.553C>G (p.Gln185Glu)
|
rs775827529
|
|
|
NM_004168.4(SDHA):c.554dup (p.Ala186fs)
|
rs1173940446
|
|
|
NM_004168.4(SDHA):c.556G>T (p.Ala186Ser)
|
|
|
|
NM_004168.4(SDHA):c.557C>T (p.Ala186Val)
|
rs2126550013
|
|
|
NM_004168.4(SDHA):c.559C>T (p.His187Tyr)
|
rs1579385898
|
|
|
NM_004168.4(SDHA):c.55G>A (p.Ala19Thr)
|
rs1560980986
|
|
|
NM_004168.4(SDHA):c.562C>A (p.Arg188=)
|
rs553257776
|
|
|
NM_004168.4(SDHA):c.565T>C (p.Cys189Arg)
|
rs1734996495
|
|
|
NM_004168.4(SDHA):c.568T>A (p.Cys190Ser)
|
rs908267345
|
|
|
NM_004168.4(SDHA):c.56C>G (p.Ala19Gly)
|
rs2126522773
|
|
|
NM_004168.4(SDHA):c.570C>T (p.Cys190=)
|
rs1060505008
|
|
|
NM_004168.4(SDHA):c.571T>C (p.Cys191Arg)
|
rs2126550176
|
|
|
NM_004168.4(SDHA):c.572G>C (p.Cys191Ser)
|
rs1393298155
|
|
|
NM_004168.4(SDHA):c.573T>C (p.Cys191=)
|
rs765111856
|
|
|
NM_004168.4(SDHA):c.578C>G (p.Ala193Gly)
|
rs1734997662
|
|
|
NM_004168.4(SDHA):c.578C>T (p.Ala193Val)
|
rs1734997662
|
|
|
NM_004168.4(SDHA):c.57C>T (p.Ala19=)
|
|
|
|
NM_004168.4(SDHA):c.580G>A (p.Asp194Asn)
|
|
|
|
NM_004168.4(SDHA):c.582T>C (p.Asp194=)
|
|
|
|
NM_004168.4(SDHA):c.583C>G (p.Arg195Gly)
|
rs1337777456
|
|
|
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp)
|
rs1337777456
|
|
|
NM_004168.4(SDHA):c.585G>A (p.Arg195=)
|
rs766339992
|
|
|
NM_004168.4(SDHA):c.586A>G (p.Thr196Ala)
|
|
|
|
NM_004168.4(SDHA):c.587C>T (p.Thr196Ile)
|
rs1560987863
|
|
|
NM_004168.4(SDHA):c.588T>C (p.Thr196=)
|
rs1278276778
|
|
|
NM_004168.4(SDHA):c.589G>A (p.Gly197Ser)
|
rs1560987881
|
|
|
NM_004168.4(SDHA):c.589G>C (p.Gly197Arg)
|
rs1560987881
|
|
|
NM_004168.4(SDHA):c.58A>G (p.Lys20Glu)
|
rs1734504263
|
|
|
NM_004168.4(SDHA):c.590G>A (p.Gly197Asp)
|
rs1579386052
|
|
|
NM_004168.4(SDHA):c.591C>G (p.Gly197=)
|
|
|
|
NM_004168.4(SDHA):c.594C>T (p.His198=)
|
rs1579386061
|
|
|
NM_004168.4(SDHA):c.596C>G (p.Ser199Trp)
|
|
|
|
NM_004168.4(SDHA):c.597G>T (p.Ser199=)
|
rs141874250
|
|
|
NM_004168.4(SDHA):c.598C>A (p.Leu200Ile)
|
rs764307917
|
|
|
NM_004168.4(SDHA):c.5C>A (p.Ser2Ter)
|
rs780064103
|
|
|
NM_004168.4(SDHA):c.5dup (p.Val4fs)
|
|
|
|
NM_004168.4(SDHA):c.602T>C (p.Leu201Ser)
|
rs150646390
|
|
|
NM_004168.4(SDHA):c.603G>A (p.Leu201=)
|
rs2126550482
|
|
|
NM_004168.4(SDHA):c.604C>G (p.His202Asp)
|
|
|
|
NM_004168.4(SDHA):c.606C>T (p.His202=)
|
|
|
|
NM_004168.4(SDHA):c.608C>G (p.Thr203Ser)
|
rs1735001122
|
|
|
NM_004168.4(SDHA):c.608C>T (p.Thr203Ile)
|
rs1735001122
|
|
|
NM_004168.4(SDHA):c.60G>A (p.Lys20=)
|
|
|
|
NM_004168.4(SDHA):c.60G>T (p.Lys20Asn)
|
|
|
|
NM_004168.4(SDHA):c.611T>C (p.Leu204Ser)
|
|
|
|
NM_004168.4(SDHA):c.612A>G (p.Leu204=)
|
rs1735001336
|
|
|
NM_004168.4(SDHA):c.614A>G (p.Tyr205Cys)
|
|
|
|
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter)
|
rs876658486
|
|
|
NM_004168.4(SDHA):c.615T>C (p.Tyr205=)
|
rs876658486
|
|
|
NM_004168.4(SDHA):c.619A>G (p.Arg207Gly)
|
rs6555055
|
|
|
NM_004168.4(SDHA):c.619A>T (p.Arg207Trp)
|
rs6555055
|
|
|
NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs)
|
rs1579386206
|
|
|
NM_004168.4(SDHA):c.619_620delinsCA (p.Arg207Gln)
|
rs2126550631
|
|
|
NM_004168.4(SDHA):c.61G>A (p.Ala21Thr)
|
rs1553996375
|
|
|
NM_004168.4(SDHA):c.620G>A (p.Arg207Lys)
|
rs780411478
|
|
|
NM_004168.4(SDHA):c.620G>C (p.Arg207Thr)
|
rs780411478
|
|
|
NM_004168.4(SDHA):c.621+11C>A
|
rs2126550755
|
|
|
NM_004168.4(SDHA):c.621+11C>T
|
|
|
|
NM_004168.4(SDHA):c.621+12C>A
|
|
|
|
NM_004168.4(SDHA):c.621+12C>T
|
|
|
|
NM_004168.4(SDHA):c.621+13C>T
|
rs2126550780
|
|
|
NM_004168.4(SDHA):c.621+15G>T
|
|
|
|
NM_004168.4(SDHA):c.621+17C>T
|
rs2126550811
|
|
|
NM_004168.4(SDHA):c.621+18C>G
|
|
|
|
NM_004168.4(SDHA):c.621+18C>T
|
rs1735004595
|
|
|
NM_004168.4(SDHA):c.621+19A>T
|
rs772849135
|
|
|
NM_004168.4(SDHA):c.621+1G>A
|
rs1735002961
|
|
|
NM_004168.4(SDHA):c.621+20C>T
|
|
|
|
NM_004168.4(SDHA):c.621+3A>G
|
|
|
|
NM_004168.4(SDHA):c.621+9G>C
|
|
|
|
NM_004168.4(SDHA):c.621G>A (p.Arg207=)
|
rs2126550683
|
|
|
NM_004168.4(SDHA):c.622-1G>A
|
rs1285132774
|
|
|
NM_004168.4(SDHA):c.622-4T>A
|
|
|
|
NM_004168.4(SDHA):c.622-4T>C
|
rs1579390820
|
|
|
NM_004168.4(SDHA):c.622-4T>G
|
|
|
|
NM_004168.4(SDHA):c.622-5T>C
|
rs878854634
|
|
|
NM_004168.4(SDHA):c.622-7C>G
|
|
|
|
NM_004168.4(SDHA):c.622-7C>T
|
rs759371428
|
|
|
NM_004168.4(SDHA):c.622-7_622-4del
|
rs2126557982
|
|
|
NM_004168.4(SDHA):c.622-8del
|
rs777777373
|
|
|
NM_004168.4(SDHA):c.622T>C (p.Ser208Pro)
|
|
|
|
NM_004168.4(SDHA):c.625C>G (p.Leu209Val)
|
|
|
|
NM_004168.4(SDHA):c.626T>C (p.Leu209Pro)
|
rs1579390858
|
|
|
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)
|
rs775143272
|
|
|
NM_004168.4(SDHA):c.62C>A (p.Ala21Glu)
|
rs2126522821
|
|
|
NM_004168.4(SDHA):c.62C>T (p.Ala21Val)
|
rs2126522821
|
|
|
NM_004168.4(SDHA):c.63+10T>C
|
rs2126522948
|
|
|
NM_004168.4(SDHA):c.63+10T>G
|
|
|
|
NM_004168.4(SDHA):c.63+13C>G
|
|
|
|
NM_004168.4(SDHA):c.63+14G>A
|
rs2126522961
|
|
|
NM_004168.4(SDHA):c.63+15C>A
|
|
|
|
NM_004168.4(SDHA):c.63+16G>A
|
|
|
|
NM_004168.4(SDHA):c.63+17G>T
|
|
|
|
NM_004168.4(SDHA):c.63+18A>G
|
rs2126522991
|
|
|
NM_004168.4(SDHA):c.63+19C>A
|
rs1553996384
|
|
|
NM_004168.4(SDHA):c.63+20C>T
|
rs1734507324
|
|
|
NM_004168.4(SDHA):c.63+2del
|
rs1579369969
|
|
|
NM_004168.4(SDHA):c.63+3G>A
|
|
|
|
NM_004168.4(SDHA):c.63+3del
|
rs1734505446
|
|
|
NM_004168.4(SDHA):c.63+4A>G
|
|
|
|
NM_004168.4(SDHA):c.63+7C>A
|
|
|
|
NM_004168.4(SDHA):c.63+8C>A
|
rs766358430
|
|
|
NM_004168.4(SDHA):c.63+9G>A
|
rs751401688
|
|
|
NM_004168.4(SDHA):c.630A>G (p.Arg210=)
|
rs1579390913
|
|
|
NM_004168.4(SDHA):c.630A>T (p.Arg210=)
|
rs1579390913
|
|
|
NM_004168.4(SDHA):c.632A>T (p.Tyr211Phe)
|
rs1235961098
|
|
|
NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter)
|
rs1307665893
|
|
|
NM_004168.4(SDHA):c.634_636delinsACC (p.Asp212Thr)
|
|
|
|
NM_004168.4(SDHA):c.635A>G (p.Asp212Gly)
|
rs750531440
|
|
|
NM_004168.4(SDHA):c.637A>G (p.Thr213Ala)
|
|
|
|
NM_004168.4(SDHA):c.638C>A (p.Thr213Asn)
|
rs766421069
|
|
|
NM_004168.4(SDHA):c.638C>T (p.Thr213Ile)
|
rs766421069
|
|
|
NM_004168.4(SDHA):c.63G>A (p.Ala21=)
|
rs587781942
|
|
|
NM_004168.4(SDHA):c.63G>T (p.Ala21=)
|
rs587781942
|
|
|
NM_004168.4(SDHA):c.64-10G>A
|
rs1553997159
|
|
|
NM_004168.4(SDHA):c.64-10G>C
|
rs1553997159
|
|
|
NM_004168.4(SDHA):c.64-11T>C
|
rs2126539331
|
|
|
NM_004168.4(SDHA):c.64-12C>G
|
|
|
|
NM_004168.4(SDHA):c.64-13T>G
|
rs2126539312
|
|
|
NM_004168.4(SDHA):c.64-13_64-5del
|
rs1382759501
|
|
|
NM_004168.4(SDHA):c.64-16T>G
|
|
|
|
NM_004168.4(SDHA):c.64-17G>A
|
|
|
|
NM_004168.4(SDHA):c.64-2A>C
|
|
|
|
NM_004168.4(SDHA):c.64-2A>G
|
rs762456298
|
|
|
NM_004168.4(SDHA):c.64-4C>T
|
|
|
|
NM_004168.4(SDHA):c.64-7T>C
|
rs1579379588
|
|
|
NM_004168.4(SDHA):c.64-7T>G
|
rs1579379588
|
|
|
NM_004168.4(SDHA):c.64-8G>T
|
|
|
|
NM_004168.4(SDHA):c.644_645del (p.Tyr215fs)
|
rs1560989804
|
|
|
NM_004168.4(SDHA):c.645T>C (p.Tyr215=)
|
|
|
|
NM_004168.4(SDHA):c.646T>C (p.Phe216Leu)
|
rs1735162987
|
|
|
NM_004168.4(SDHA):c.649G>C (p.Val217Leu)
|
rs1735163272
|
|
|
NM_004168.4(SDHA):c.64T>C (p.Trp22Arg)
|
rs2126539375
|
|
|
NM_004168.4(SDHA):c.653A>T (p.Glu218Val)
|
rs1735163544
|
|
|
NM_004168.4(SDHA):c.654G>T (p.Glu218Asp)
|
|
|
|
NM_004168.4(SDHA):c.656A>G (p.Tyr219Cys)
|
|
|
|
NM_004168.4(SDHA):c.65G>A (p.Trp22Ter)
|
rs2126539382
|
|
|
NM_004168.4(SDHA):c.662C>G (p.Ala221Gly)
|
rs1735163984
|
|
|
NM_004168.4(SDHA):c.663C>G (p.Ala221=)
|
rs1579391069
|
|
|
NM_004168.4(SDHA):c.663C>T (p.Ala221=)
|
rs1579391069
|
|
|
NM_004168.4(SDHA):c.664T>G (p.Leu222Val)
|
rs1553998191
|
|
|
NM_004168.4(SDHA):c.665T>C (p.Leu222Ser)
|
|
|
|
NM_004168.4(SDHA):c.666G>A (p.Leu222=)
|
|
|
|
NM_004168.4(SDHA):c.667G>C (p.Asp223His)
|
rs1579391108
|
|
|
NM_004168.4(SDHA):c.667G>T (p.Asp223Tyr)
|
rs1579391108
|
|
|
NM_004168.4(SDHA):c.667del (p.Asp223fs)
|
rs587782077
|
|
|
NM_004168.4(SDHA):c.668A>C (p.Asp223Ala)
|
rs2126558436
|
|
|
NM_004168.4(SDHA):c.670C>T (p.Leu224Phe)
|
|
|
|
NM_004168.4(SDHA):c.672C>T (p.Leu224=)
|
rs2126558458
|
|
|
NM_004168.4(SDHA):c.673C>T (p.Leu225=)
|
rs1579391116
|
|
|
NM_004168.4(SDHA):c.674T>C (p.Leu225Pro)
|
rs2126558482
|
|
|
NM_004168.4(SDHA):c.675G>A (p.Leu225=)
|
rs1367248054
|
|
|
NM_004168.4(SDHA):c.675G>C (p.Leu225=)
|
rs1367248054
|
|
|
NM_004168.4(SDHA):c.676A>T (p.Met226Leu)
|
rs1579391135
|
|
|
NM_004168.4(SDHA):c.677T>A (p.Met226Lys)
|
|
|
|
NM_004168.4(SDHA):c.677T>C (p.Met226Thr)
|
rs1735165932
|
|
|
NM_004168.4(SDHA):c.678G>A (p.Met226Ile)
|
rs745884899
|
|
|
NM_004168.4(SDHA):c.681G>T (p.Glu227Asp)
|
|
|
|
NM_004168.4(SDHA):c.682A>T (p.Asn228Tyr)
|
rs2126558556
|
|
|
NM_004168.4(SDHA):c.683A>G (p.Asn228Ser)
|
rs2126558564
|
|
|
NM_004168.4(SDHA):c.684_685inv (p.Gly229Arg)
|
|
|
|
NM_004168.4(SDHA):c.687G>C (p.Gly229=)
|
rs775359678
|
|
|
NM_004168.4(SDHA):c.688G>A (p.Glu230Lys)
|
|
|
|
NM_004168.4(SDHA):c.688G>C (p.Glu230Gln)
|
rs1436777353
|
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
|
NM_004168.4(SDHA):c.693C>T (p.Cys231=)
|
|
|
|
NM_004168.4(SDHA):c.695G>A (p.Arg232His)
|
rs1060503708
|
|
|
NM_004168.4(SDHA):c.696T>G (p.Arg232=)
|
|
|
|
NM_004168.4(SDHA):c.697G>A (p.Gly233Ser)
|
rs2126558729
|
|
|
NM_004168.4(SDHA):c.698G>A (p.Gly233Asp)
|
rs878854636
|
|
|
NM_004168.4(SDHA):c.698G>T (p.Gly233Val)
|
rs878854636
|
|
|
NM_004168.4(SDHA):c.699del (p.Val234fs)
|
rs1175771583
|
|
|
NM_004168.4(SDHA):c.6G>C (p.Ser2=)
|
rs751383247
|
|
|
NM_004168.4(SDHA):c.6G>T (p.Ser2=)
|
rs751383247
|
|
|
NM_004168.4(SDHA):c.700G>A (p.Val234Ile)
|
rs2126558764
|
|
|
NM_004168.4(SDHA):c.709C>G (p.Leu237Val)
|
|
|
|
NM_004168.4(SDHA):c.70A>G (p.Thr24Ala)
|
rs1579379632
|
|
|
NM_004168.4(SDHA):c.711G>T (p.Leu237=)
|
|
|
|
NM_004168.4(SDHA):c.712T>G (p.Cys238Gly)
|
rs1579391373
|
|
|
NM_004168.4(SDHA):c.713G>C (p.Cys238Ser)
|
rs1168458733
|
|
|
NM_004168.4(SDHA):c.713G>T (p.Cys238Phe)
|
rs1168458733
|
|
|
NM_004168.4(SDHA):c.714C>T (p.Cys238=)
|
|
|
|
NM_004168.4(SDHA):c.715A>C (p.Ile239Leu)
|
rs760106352
|
|
|
NM_004168.4(SDHA):c.715A>G (p.Ile239Val)
|
rs760106352
|
|
|
NM_004168.4(SDHA):c.716T>C (p.Ile239Thr)
|
rs1466069757
|
|
|
NM_004168.4(SDHA):c.716T>G (p.Ile239Arg)
|
|
|
|
NM_004168.4(SDHA):c.717A>T (p.Ile239=)
|
|
|
|
NM_004168.4(SDHA):c.718G>A (p.Glu240Lys)
|
rs1041946
|
|
|
NM_004168.4(SDHA):c.719A>C (p.Glu240Ala)
|
|
|
|
NM_004168.4(SDHA):c.71C>G (p.Thr24Arg)
|
|
|
|
NM_004168.4(SDHA):c.720G>A (p.Glu240=)
|
rs1579391431
|
|
|
NM_004168.4(SDHA):c.720_722del (p.Glu240del)
|
rs1560990000
|
|
|
NM_004168.4(SDHA):c.722_726del (p.Asp241fs)
|
rs1553998229
|
|
|
NM_004168.4(SDHA):c.726G>A (p.Gly242=)
|
rs2126559012
|
|
|
NM_004168.4(SDHA):c.726G>T (p.Gly242=)
|
|
|
|
NM_004168.4(SDHA):c.727T>C (p.Ser243Pro)
|
|
|
|
NM_004168.4(SDHA):c.728C>G (p.Ser243Cys)
|
rs756966025
|
|
|
NM_004168.4(SDHA):c.728C>T (p.Ser243Phe)
|
rs756966025
|
|
|
NM_004168.4(SDHA):c.729C>G (p.Ser243=)
|
|
|
|
NM_004168.4(SDHA):c.72A>C (p.Thr24=)
|
rs2126539424
|
|
|
NM_004168.4(SDHA):c.72A>G (p.Thr24=)
|
rs2126539424
|
|
|
NM_004168.4(SDHA):c.733C>G (p.His245Asp)
|
rs1060503716
|
|
|
NM_004168.4(SDHA):c.734A>G (p.His245Arg)
|
rs1579391515
|
|
|
NM_004168.4(SDHA):c.734A>T (p.His245Leu)
|
rs1579391515
|
|
|
NM_004168.4(SDHA):c.736C>T (p.Arg246Cys)
|
rs1579391530
|
|
|
NM_004168.4(SDHA):c.737G>A (p.Arg246His)
|
rs745309710
|
|
|
NM_004168.4(SDHA):c.737G>T (p.Arg246Leu)
|
rs745309710
|
|
|
NM_004168.4(SDHA):c.738C>T (p.Arg246=)
|
rs2126559157
|
|
|
NM_004168.4(SDHA):c.741A>G (p.Ile247Met)
|
rs1735177782
|
|
|
NM_004168.4(SDHA):c.743G>C (p.Arg248Thr)
|
|
|
|
NM_004168.4(SDHA):c.747A>G (p.Ala249=)
|
|
|
|
NM_004168.4(SDHA):c.748A>G (p.Lys250Glu)
|
rs1735177925
|
|
|
NM_004168.4(SDHA):c.749A>G (p.Lys250Arg)
|
rs1060503700
|
|
|
NM_004168.4(SDHA):c.74T>C (p.Val25Ala)
|
rs2126539437
|
|
|
NM_004168.4(SDHA):c.750G>A (p.Lys250=)
|
|
|
|
NM_004168.4(SDHA):c.751A>G (p.Asn251Asp)
|
|
|
|
NM_004168.4(SDHA):c.752A>G (p.Asn251Ser)
|
|
|
|
NM_004168.4(SDHA):c.753C>T (p.Asn251=)
|
rs1126411
|
|
|
NM_004168.4(SDHA):c.757G>A (p.Val253Ile)
|
rs1126412
|
|
|
NM_004168.4(SDHA):c.757G>C (p.Val253Leu)
|
|
|
|
NM_004168.4(SDHA):c.757_758del (p.Val253fs)
|
rs1553998254
|
|
|
NM_004168.4(SDHA):c.758TTG[1] (p.Val254del)
|
|
|
|
NM_004168.4(SDHA):c.75G>A (p.Val25=)
|
rs774378936
|
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
|
NM_004168.4(SDHA):c.763G>A (p.Ala255Thr)
|
rs1735179887
|
|
|
NM_004168.4(SDHA):c.766A>T (p.Thr256Ser)
|
rs1409070000
|
|
|
NM_004168.4(SDHA):c.767C>T (p.Thr256Ile)
|
rs2126559328
|
|
|
NM_004168.4(SDHA):c.768A>C (p.Thr256=)
|
rs2126559341
|
|
|
NM_004168.4(SDHA):c.768A>T (p.Thr256=)
|
rs2126559341
|
|
|
NM_004168.4(SDHA):c.769G>A (p.Gly257Arg)
|
|
|
|
NM_004168.4(SDHA):c.769_770+77del
|
|
|
|
NM_004168.4(SDHA):c.770+10T>G
|
rs1579391739
|
|
|
NM_004168.4(SDHA):c.770+3A>G
|
|
|
|
NM_004168.4(SDHA):c.770+7A>C
|
rs770997653
|
|
|
NM_004168.4(SDHA):c.770G>A (p.Gly257Glu)
|
rs749566947
|
|
|
NM_004168.4(SDHA):c.770G>C (p.Gly257Ala)
|
rs749566947
|
|
|
NM_004168.4(SDHA):c.771-1G>C
|
rs1735353141
|
|
|
NM_004168.4(SDHA):c.771-4C>G
|
rs1360537551
|
|
|
NM_004168.4(SDHA):c.771-5T>C
|
|
|
|
NM_004168.4(SDHA):c.772G>T (p.Gly258Cys)
|
|
|
|
NM_004168.4(SDHA):c.774C>A (p.Gly258=)
|
rs2126567779
|
|
|
NM_004168.4(SDHA):c.774C>T (p.Gly258=)
|
rs2126567779
|
|
|
NM_004168.4(SDHA):c.775del (p.Tyr259fs)
|
rs1553998606
|
|
|
NM_004168.4(SDHA):c.778G>C (p.Gly260Arg)
|
rs940845256
|
|
|
NM_004168.4(SDHA):c.779G>A (p.Gly260Glu)
|
|
|
|
NM_004168.4(SDHA):c.780G>A (p.Gly260=)
|
|
|
|
NM_004168.4(SDHA):c.783C>T (p.Arg261=)
|
rs1037927856
|
|
|
NM_004168.4(SDHA):c.785C>T (p.Thr262Ile)
|
rs1579397115
|
|
|
NM_004168.4(SDHA):c.786C>T (p.Thr262=)
|
rs1560992315
|
|
|
NM_004168.4(SDHA):c.786del (p.Tyr263fs)
|
rs1553998613
|
|
|
NM_004168.4(SDHA):c.788A>G (p.Tyr263Cys)
|
rs2126567907
|
|
|
NM_004168.4(SDHA):c.789C>T (p.Tyr263=)
|
rs1553998616
|
|
|
NM_004168.4(SDHA):c.791T>A (p.Phe264Tyr)
|
|
|
|
NM_004168.4(SDHA):c.791T>G (p.Phe264Cys)
|
rs2126567940
|
|
|
NM_004168.4(SDHA):c.792C>T (p.Phe264=)
|
rs1237513803
|
|
|
NM_004168.4(SDHA):c.793A>T (p.Ser265Cys)
|
rs2126567967
|
|
|
NM_004168.4(SDHA):c.795C>T (p.Ser265=)
|
rs1579397171
|
|
|
NM_004168.4(SDHA):c.796T>C (p.Cys266Arg)
|
rs1579397179
|
|
|
NM_004168.4(SDHA):c.798C>T (p.Cys266=)
|
|
|
|
NM_004168.4(SDHA):c.79C>G (p.Gln27Glu)
|
rs1734829878
|
|
|
NM_004168.4(SDHA):c.79C>T (p.Gln27Ter)
|
rs1734829878
|
|
|
NM_004168.4(SDHA):c.7G>A (p.Gly3Arg)
|
|
|
|
NM_004168.4(SDHA):c.7G>C (p.Gly3Arg)
|
rs756415935
|
|
|
NM_004168.4(SDHA):c.7G>T (p.Gly3Trp)
|
rs756415935
|
|
|
NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer)
|
|
|
|
NM_004168.4(SDHA):c.805G>A (p.Ala269Thr)
|
rs1579397217
|
|
|
NM_004168.4(SDHA):c.807C>A (p.Ala269=)
|
|
|
|
NM_004168.4(SDHA):c.809_814del (p.His270_Ser272delinsArg)
|
rs2126568112
|
|
|
NM_004168.4(SDHA):c.810C>T (p.His270=)
|
rs1199457341
|
|
|
NM_004168.4(SDHA):c.812C>T (p.Thr271Ile)
|
rs765611464
|
|
|
NM_004168.4(SDHA):c.813C>A (p.Thr271=)
|
|
|
|
NM_004168.4(SDHA):c.817A>G (p.Thr273Ala)
|
rs1735357615
|
|
|
NM_004168.4(SDHA):c.819T>G (p.Thr273=)
|
|
|
|
NM_004168.4(SDHA):c.81A>G (p.Gln27=)
|
rs759523671
|
|
|
NM_004168.4(SDHA):c.822C>A (p.Gly274=)
|
rs34771391
|
|
|
NM_004168.4(SDHA):c.823G>A (p.Asp275Asn)
|
rs1553998629
|
|
|
NM_004168.4(SDHA):c.828C>A (p.Gly276=)
|
rs754910183
|
|
|
NM_004168.4(SDHA):c.828C>T (p.Gly276=)
|
rs754910183
|
|
|
NM_004168.4(SDHA):c.829A>G (p.Thr277Ala)
|
rs1553998638
|
|
|
NM_004168.4(SDHA):c.830C>A (p.Thr277Lys)
|
rs367721665
|
|
|
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)
|
rs367721665
|
|
|
NM_004168.4(SDHA):c.834C>T (p.Ala278=)
|
rs1553998649
|
|
|
NM_004168.4(SDHA):c.835A>T (p.Met279Leu)
|
rs755913710
|
|
|
NM_004168.4(SDHA):c.836T>C (p.Met279Thr)
|
rs777595710
|
|
|
NM_004168.4(SDHA):c.837G>A (p.Met279Ile)
|
|
|
|
NM_004168.4(SDHA):c.837G>C (p.Met279Ile)
|
|
|
|
NM_004168.4(SDHA):c.837G>T (p.Met279Ile)
|
rs746145822
|
|
|
NM_004168.4(SDHA):c.839T>A (p.Ile280Asn)
|
rs2126568391
|
|
|
NM_004168.4(SDHA):c.83C>T (p.Thr28Ile)
|
rs1171584124
|
|
|
NM_004168.4(SDHA):c.83dup (p.Gly29fs)
|
rs1734830402
|
|
|
NM_004168.4(SDHA):c.840C>G (p.Ile280Met)
|
rs2126568400
|
|
|
NM_004168.4(SDHA):c.842C>A (p.Thr281Asn)
|
|
|
|
NM_004168.4(SDHA):c.842C>G (p.Thr281Ser)
|
|
|
|
NM_004168.4(SDHA):c.842C>T (p.Thr281Ile)
|
|
|
|
NM_004168.4(SDHA):c.844A>G (p.Arg282Gly)
|
rs1553998658
|
|
|
NM_004168.4(SDHA):c.845G>A (p.Arg282Lys)
|
|
|
|
NM_004168.4(SDHA):c.845G>C (p.Arg282Thr)
|
rs1735361111
|
|
|
NM_004168.4(SDHA):c.846G>A (p.Arg282=)
|
rs1579397464
|
|
|
NM_004168.4(SDHA):c.848C>T (p.Ala283Val)
|
|
|
|
NM_004168.4(SDHA):c.84A>G (p.Thr28=)
|
rs1553997162
|
|
|
NM_004168.4(SDHA):c.856C>T (p.Pro286Ser)
|
rs1579397496
|
|
|
NM_004168.4(SDHA):c.859T>A (p.Cys287Ser)
|
rs2126568567
|
|
|
NM_004168.4(SDHA):c.861C>T (p.Cys287=)
|
|
|
|
NM_004168.4(SDHA):c.865G>A (p.Asp289Asn)
|
|
|
|
NM_004168.4(SDHA):c.865G>T (p.Asp289Tyr)
|
rs2126568625
|
|
|
NM_004168.4(SDHA):c.867C>G (p.Asp289Glu)
|
|
|
|
NM_004168.4(SDHA):c.867C>T (p.Asp289=)
|
|
|
|
NM_004168.4(SDHA):c.868C>T (p.Leu290=)
|
rs2126568639
|
|
|
NM_004168.4(SDHA):c.871G>A (p.Glu291Lys)
|
rs1579397516
|
|
|
NM_004168.4(SDHA):c.872A>C (p.Glu291Ala)
|
|
|
|
NM_004168.4(SDHA):c.872A>G (p.Glu291Gly)
|
|
|
|
NM_004168.4(SDHA):c.872A>T (p.Glu291Val)
|
rs1336029027
|
|
|
NM_004168.4(SDHA):c.873G>A (p.Glu291=)
|
rs570393010
|
|
|
NM_004168.4(SDHA):c.875T>G (p.Phe292Cys)
|
rs2126568674
|
|
|
NM_004168.4(SDHA):c.880C>A (p.Gln294Lys)
|
|
|
|
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter)
|
rs1560992565
|
|
|
NM_004168.4(SDHA):c.882G>A (p.Gln294=)
|
|
|
|
NM_004168.4(SDHA):c.882G>T (p.Gln294His)
|
rs371512265
|
|
|
NM_004168.4(SDHA):c.884T>A (p.Phe295Tyr)
|
rs1735363396
|
|
|
NM_004168.4(SDHA):c.886C>T (p.His296Tyr)
|
rs1579397566
|
|
|
NM_004168.4(SDHA):c.888C>T (p.His296=)
|
rs1553998666
|
|
|
NM_004168.4(SDHA):c.88A>G (p.Thr30Ala)
|
rs2126539529
|
|
|
NM_004168.4(SDHA):c.890_891delinsTC (p.Pro297Leu)
|
rs1579397592
|
|
|
NM_004168.4(SDHA):c.891T>G (p.Pro297=)
|
rs1126417
|
|
|
NM_004168.4(SDHA):c.892A>G (p.Thr298Ala)
|
|
|
|
NM_004168.4(SDHA):c.895+1del
|
rs2126568833
|
|
|
NM_004168.4(SDHA):c.895+2T>C
|
|
|
|
NM_004168.4(SDHA):c.895+4G>A
|
rs1735364791
|
|
|
NM_004168.4(SDHA):c.895+4G>C
|
|
|
|
NM_004168.4(SDHA):c.895+9G>A
|
rs1579397653
|
|
|
NM_004168.4(SDHA):c.895G>A (p.Gly299Ser)
|
|
|
|
NM_004168.4(SDHA):c.896-10T>G
|
rs2126576716
|
|
|
NM_004168.4(SDHA):c.896-2A>G
|
|
|
|
NM_004168.4(SDHA):c.896-2del
|
|
|
|
NM_004168.4(SDHA):c.896-3C>T
|
rs1735543080
|
|
|
NM_004168.4(SDHA):c.896-5T>G
|
rs2126576742
|
|
|
NM_004168.4(SDHA):c.896-5del
|
rs751123858
|
|
|
NM_004168.4(SDHA):c.897C>T (p.Gly299=)
|
rs1484385016
|
|
|
NM_004168.4(SDHA):c.898A>C (p.Ile300Leu)
|
rs1448561231
|
|
|
NM_004168.4(SDHA):c.898A>G (p.Ile300Val)
|
|
|
|
NM_004168.4(SDHA):c.899T>C (p.Ile300Thr)
|
rs878854637
|
|
|
NM_004168.4(SDHA):c.89C>T (p.Thr30Ile)
|
rs1560985157
|
|
|
NM_004168.4(SDHA):c.8G>C (p.Gly3Ala)
|
rs1398198098
|
|
|
NM_004168.4(SDHA):c.900A>G (p.Ile300Met)
|
rs1735543603
|
|
|
NM_004168.4(SDHA):c.905G>A (p.Gly302Asp)
|
rs1735544082
|
|
|
NM_004168.4(SDHA):c.907G>T (p.Ala303Ser)
|
rs2126576840
|
|
|
NM_004168.4(SDHA):c.90C>G (p.Thr30=)
|
rs2126539545
|
|
|
NM_004168.4(SDHA):c.914G>T (p.Cys305Phe)
|
rs878854638
|
|
|
NM_004168.4(SDHA):c.916C>G (p.Leu306Val)
|
rs1735544893
|
|
|
NM_004168.4(SDHA):c.917T>C (p.Leu306Pro)
|
rs1477142607
|
|
|
NM_004168.4(SDHA):c.918C>A (p.Leu306=)
|
rs138828792
|
|
|
NM_004168.4(SDHA):c.918C>T (p.Leu306=)
|
rs138828792
|
|
|
NM_004168.4(SDHA):c.920T>C (p.Ile307Thr)
|
|
|
|
NM_004168.4(SDHA):c.921T>C (p.Ile307=)
|
|
|
|
NM_004168.4(SDHA):c.922A>G (p.Thr308Ala)
|
|
|
|
NM_004168.4(SDHA):c.923C>A (p.Thr308Lys)
|
|
|
|
NM_004168.4(SDHA):c.924G>A (p.Thr308=)
|
rs1355760590
|
|
|
NM_004168.4(SDHA):c.926A>G (p.Glu309Gly)
|
rs1735547863
|
|
|
NM_004168.4(SDHA):c.928G>A (p.Gly310Arg)
|
|
|
|
NM_004168.4(SDHA):c.928G>C (p.Gly310Arg)
|
|
|
|
NM_004168.4(SDHA):c.930A>C (p.Gly310=)
|
rs1579402124
|
|
|
NM_004168.4(SDHA):c.933T>C (p.Cys311=)
|
rs764026731
|
|
|
NM_004168.4(SDHA):c.934C>T (p.Arg312Cys)
|
rs1735549033
|
|
|
NM_004168.4(SDHA):c.934_936del (p.Arg312del)
|
rs1735548711
|
|
|
NM_004168.4(SDHA):c.935G>A (p.Arg312His)
|
rs876660932
|
|
|
NM_004168.4(SDHA):c.935G>C (p.Arg312Pro)
|
rs876660932
|
|
|
NM_004168.4(SDHA):c.935G>T (p.Arg312Leu)
|
rs876660932
|
|
|
NM_004168.4(SDHA):c.936T>G (p.Arg312=)
|
rs2126577072
|
|
|
NM_004168.4(SDHA):c.939A>C (p.Gly313=)
|
rs1579402154
|
|
|
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys)
|
rs1337704280
|
|
|
NM_004168.4(SDHA):c.941A>C (p.Glu314Ala)
|
rs1735550179
|
|
|
NM_004168.4(SDHA):c.941A>G (p.Glu314Gly)
|
rs1735550179
|
|
|
NM_004168.4(SDHA):c.942G>A (p.Glu314=)
|
rs1553998977
|
|
|
NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs)
|
rs1579402188
|
|
|
NM_004168.4(SDHA):c.943G>T (p.Gly315Ter)
|
|
|
|
NM_004168.4(SDHA):c.944G>A (p.Gly315Glu)
|
rs1579402194
|
|
|
NM_004168.4(SDHA):c.946G>A (p.Gly316Ser)
|
|
|
|
NM_004168.4(SDHA):c.949A>G (p.Ile317Val)
|
|
|
|
NM_004168.4(SDHA):c.94G>C (p.Gly32Arg)
|
rs1734831542
|
|
|
NM_004168.4(SDHA):c.950T>C (p.Ile317Thr)
|
rs903136919
|
|
|
NM_004168.4(SDHA):c.952C>T (p.Leu318Phe)
|
rs1735551482
|
|
|
NM_004168.4(SDHA):c.954del (p.Ile319fs)
|
|
|
|
NM_004168.4(SDHA):c.955A>G (p.Ile319Val)
|
rs377509915
|
|
|
NM_004168.4(SDHA):c.957T>A (p.Ile319=)
|
|
|
|
NM_004168.4(SDHA):c.959A>G (p.Asn320Ser)
|
rs765092091
|
|
|
NM_004168.4(SDHA):c.965A>C (p.Gln322Pro)
|
rs1553998989
|
|
|
NM_004168.4(SDHA):c.967G>A (p.Gly323Ser)
|
rs1553998991
|
|
|
NM_004168.4(SDHA):c.969C>A (p.Gly323=)
|
rs142849100
|
|
|
NM_004168.4(SDHA):c.969C>G (p.Gly323=)
|
|
|
|
NM_004168.4(SDHA):c.96T>C (p.Gly32=)
|
rs2126539605
|
|
|
NM_004168.4(SDHA):c.970G>T (p.Glu324Ter)
|
|
|
|
NM_004168.4(SDHA):c.974G>T (p.Arg325Met)
|
rs1735554223
|
|
|
NM_004168.4(SDHA):c.976T>C (p.Phe326Leu)
|
|
|
|
NM_004168.4(SDHA):c.977T>A (p.Phe326Tyr)
|
rs1735554652
|
|
|
NM_004168.4(SDHA):c.978T>C (p.Phe326=)
|
|
|
|
NM_004168.4(SDHA):c.979A>G (p.Met327Val)
|
rs1285443776
|
|
|
NM_004168.4(SDHA):c.97T>C (p.Phe33Leu)
|
|
|
|
NM_004168.4(SDHA):c.980T>C (p.Met327Thr)
|
rs2126577482
|
|
|
NM_004168.4(SDHA):c.982G>C (p.Glu328Gln)
|
rs778297896
|
|
|
NM_004168.4(SDHA):c.984G>A (p.Glu328=)
|
rs1735555420
|
|
|
NM_004168.4(SDHA):c.985C>G (p.Arg329Gly)
|
rs771328239
|
|
|
NM_004168.4(SDHA):c.986G>C (p.Arg329Pro)
|
|
|
|
NM_004168.4(SDHA):c.988T>A (p.Tyr330Asn)
|
|
|
|
NM_004168.4(SDHA):c.988dup (p.Tyr330fs)
|
|
|
|
NM_004168.4(SDHA):c.989dup (p.Tyr330Ter)
|
|
|
|
NM_004168.4(SDHA):c.98T>C (p.Phe33Ser)
|
rs1734831975
|
|
|
NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter)
|
|
|
|
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer)
|
rs886041867
|
|
|
NM_004168.4(SDHA):c.991G>T (p.Ala331Ser)
|
rs200526913
|
|
|
NM_004168.4(SDHA):c.991_992delinsAA (p.Ala331Asn)
|
|
|
|
NM_004168.4(SDHA):c.992C>G (p.Ala331Gly)
|
rs1206201147
|
|
|
NM_004168.4(SDHA):c.992C>T (p.Ala331Val)
|
rs1206201147
|
|
|
NM_004168.4(SDHA):c.993C>T (p.Ala331=)
|
rs1424925197
|
|
|
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser)
|
rs373509391
|
|
|
NM_004168.4(SDHA):c.995_996del (p.Pro332fs)
|
rs1560994766
|
|
|
NM_004168.4(SDHA):c.996_997inv (p.Val333Ile)
|
|
|
|
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr)
|
rs1057517540
|
|
|
NM_004168.4(SDHA):c.997G>C (p.Val333Leu)
|
rs1062468
|
|
|
NM_004168.4(SDHA):c.999C>A (p.Val333=)
|
|
|
|
NM_004168.4(SDHA):c.999C>G (p.Val333=)
|
rs149556555
|
|
|
NM_004168.4(SDHA):c.999C>T (p.Val333=)
|
rs149556555
|
|
|
NM_004168.4(SDHA):c.99_108del (p.Phe33fs)
|
rs1734832099
|
|
|
NM_004168.4(SDHA):c.9G>A (p.Gly3=)
|
|
|
|
NM_004168.4(SDHA):c.9G>C (p.Gly3=)
|
rs1252447154
|
|
|
NM_004281.4(BAG3):c.1009dup (p.Ile337fs)
|
|
|
|
NM_004281.4(BAG3):c.1011C>A (p.Ile337=)
|
rs1434506876
|
|
|
NM_004281.4(BAG3):c.1013dup (p.Ile339fs)
|
|
|
|
NM_004281.4(BAG3):c.1017T>A (p.Ile339=)
|
rs2134068761
|
|
|
NM_004281.4(BAG3):c.1026C>G (p.Ile342Met)
|
|
|
|
NM_004281.4(BAG3):c.1028G>A (p.Arg343His)
|
rs774085746
|
|
|
NM_004281.4(BAG3):c.1028G>T (p.Arg343Leu)
|
rs774085746
|
|
|
NM_004281.4(BAG3):c.1029C>T (p.Arg343=)
|
rs117972572
|
|
|
NM_004281.4(BAG3):c.1031_1032del (p.Lys344fs)
|
rs1847237761
|
|
|
NM_004281.4(BAG3):c.1032A>T (p.Lys344Asn)
|
rs2134068785
|
|
|
NM_004281.4(BAG3):c.1035G>A (p.Glu345=)
|
rs1057522401
|
|
|
NM_004281.4(BAG3):c.103G>T (p.Gly35Cys)
|
rs200072558
|
|
|
NM_004281.4(BAG3):c.1047A>G (p.Lys349=)
|
rs776281341
|
|
|
NM_004281.4(BAG3):c.1047A>T (p.Lys349Asn)
|
|
|
|
NM_004281.4(BAG3):c.104G>A (p.Gly35Asp)
|
|
|
|
NM_004281.4(BAG3):c.1054T>A (p.Ser352Thr)
|
|
|
|
NM_004281.4(BAG3):c.1054T>C (p.Ser352Pro)
|
|
|
|
NM_004281.4(BAG3):c.1055C>G (p.Ser352Cys)
|
rs1564776574
|
|
|
NM_004281.4(BAG3):c.1056C>T (p.Ser352=)
|
rs753304366
|
|
|
NM_004281.4(BAG3):c.1057C>T (p.Gln353Ter)
|
rs1847238300
|
|
|
NM_004281.4(BAG3):c.1057del (p.Gln353fs)
|
rs2134068813
|
|
|
NM_004281.4(BAG3):c.1060A>G (p.Lys354Glu)
|
|
|
|
NM_004281.4(BAG3):c.1063C>T (p.Pro355Ser)
|
rs761188869
|
|
|
NM_004281.4(BAG3):c.1067del (p.Pro356fs)
|
rs727505109
|
|
|
NM_004281.4(BAG3):c.1067dup (p.Pro357fs)
|
|
|
|
NM_004281.4(BAG3):c.1068A>G (p.Pro356=)
|
rs2134068836
|
|
|
NM_004281.4(BAG3):c.1070C>T (p.Pro357Leu)
|
|
|
|
NM_004281.4(BAG3):c.1074C>G (p.Pro358=)
|
|
|
|
NM_004281.4(BAG3):c.1078G>C (p.Glu360Gln)
|
rs2134068848
|
|
|
NM_004281.4(BAG3):c.1083G>A (p.Lys361=)
|
rs1060504722
|
|
|
NM_004281.4(BAG3):c.1083G>C (p.Lys361Asn)
|
rs1060504722
|
|
|
NM_004281.4(BAG3):c.1084G>A (p.Val362Ile)
|
|
|
|
NM_004281.4(BAG3):c.1088A>C (p.Glu363Ala)
|
rs1345725468
|
|
|
NM_004281.4(BAG3):c.1088_1708del (p.Glu363_Pro569del)
|
rs2134068860
|
|
|
NM_004281.4(BAG3):c.108G>A (p.Trp36Ter)
|
rs1846844070
|
|
|
NM_004281.4(BAG3):c.1093A>C (p.Lys365Gln)
|
|
|
|
NM_004281.4(BAG3):c.1096G>A (p.Val366Ile)
|
rs1215731985
|
|
|
NM_004281.4(BAG3):c.1100C>T (p.Pro367Leu)
|
|
|
|
NM_004281.4(BAG3):c.1105G>C (p.Ala369Pro)
|
rs772900053
|
|
|
NM_004281.4(BAG3):c.1106C>T (p.Ala369Val)
|
|
|
|
NM_004281.4(BAG3):c.1114C>T (p.Pro372Ser)
|
|
|
|
NM_004281.4(BAG3):c.1118G>C (p.Cys373Ser)
|
rs876657745
|
|
|
NM_004281.4(BAG3):c.111C>G (p.Pro37=)
|
rs397516880
|
|
|
NM_004281.4(BAG3):c.111C>T (p.Pro37=)
|
rs397516880
|
|
|
NM_004281.4(BAG3):c.1121C>G (p.Pro374Arg)
|
|
|
|
NM_004281.4(BAG3):c.1121C>T (p.Pro374Leu)
|
rs770517568
|
|
|
NM_004281.4(BAG3):c.1125T>C (p.Pro375=)
|
rs1847240164
|
|
|
NM_004281.4(BAG3):c.1126C>T (p.Pro376Ser)
|
rs1180366101
|
|
|
NM_004281.4(BAG3):c.1127C>A (p.Pro376His)
|
rs2134068908
|
|
|
NM_004281.4(BAG3):c.1128C>T (p.Pro376=)
|
rs1847240297
|
|
|
NM_004281.4(BAG3):c.112TTC[1] (p.Phe39del)
|
rs1064796808
|
|
|
NM_004281.4(BAG3):c.1133C>G (p.Pro378Arg)
|
rs1847240427
|
|
|
NM_004281.4(BAG3):c.1140T>C (p.Pro380=)
|
|
|
|
NM_004281.4(BAG3):c.1140T>G (p.Pro380=)
|
rs201449869
|
|
|
NM_004281.4(BAG3):c.1146T>A (p.Ala382=)
|
|
|
|
NM_004281.4(BAG3):c.1148T>C (p.Val383Ala)
|
|
|
|
NM_004281.4(BAG3):c.1149C>T (p.Val383=)
|
|
|
|
NM_004281.4(BAG3):c.1152C>T (p.Pro384=)
|
rs2134068948
|
|
|
NM_004281.4(BAG3):c.1155T>C (p.Ser385=)
|
rs750681972
|
|
|
NM_004281.4(BAG3):c.1155_1157dup (p.Ser386dup)
|
rs751357335
|
|
|
NM_004281.4(BAG3):c.1156T>G (p.Ser386Ala)
|
rs1554877763
|
|
|
NM_004281.4(BAG3):c.1159C>T (p.Pro387Ser)
|
rs780162994
|
|
|
NM_004281.4(BAG3):c.115T>A (p.Phe39Ile)
|
|
|
|
NM_004281.4(BAG3):c.1161C>A (p.Pro387=)
|
|
|
|
NM_004281.4(BAG3):c.1161C>T (p.Pro387=)
|
rs919491747
|
|
|
NM_004281.4(BAG3):c.1161dup (p.Lys388fs)
|
rs1554877765
|
|
|
NM_004281.4(BAG3):c.1165A>G (p.Ser389Gly)
|
|
|
|
NM_004281.4(BAG3):c.1167T>G (p.Ser389Arg)
|
|
|
|
NM_004281.4(BAG3):c.1169T>G (p.Val390Gly)
|
|
|
|
NM_004281.4(BAG3):c.116T>C (p.Phe39Ser)
|
rs1472915271
|
|
|
NM_004281.4(BAG3):c.1173T>G (p.Ala391=)
|
|
|
|
NM_004281.4(BAG3):c.1174A>G (p.Thr392Ala)
|
rs2134068984
|
|
|
NM_004281.4(BAG3):c.117C>T (p.Phe39=)
|
rs2134050608
|
|
|
NM_004281.4(BAG3):c.1187C>T (p.Ala396Val)
|
rs769416305
|
|
|
NM_004281.4(BAG3):c.1188A>G (p.Ala396=)
|
rs1847242410
|
|
|
NM_004281.4(BAG3):c.1191C>T (p.Ala397=)
|
rs2134069011
|
|
|
NM_004281.4(BAG3):c.1199C>T (p.Thr400Ile)
|
rs1060502817
|
|
|
NM_004281.4(BAG3):c.1202C>T (p.Ala401Val)
|
rs775153939
|
|
|
NM_004281.4(BAG3):c.1210G>A (p.Glu404Lys)
|
rs1165453591
|
|
|
NM_004281.4(BAG3):c.1211A>G (p.Glu404Gly)
|
|
|
|
NM_004281.4(BAG3):c.1213G>T (p.Ala405Ser)
|
rs1416464425
|
|
|
NM_004281.4(BAG3):c.1215T>C (p.Ala405=)
|
rs2134069050
|
|
|
NM_004281.4(BAG3):c.1219C>T (p.Pro407Ser)
|
|
|
|
NM_004281.4(BAG3):c.1225A>C (p.Lys409Gln)
|
|
|
|
NM_004281.4(BAG3):c.122A>G (p.Asp41Gly)
|
rs2134050615
|
|
|
NM_004281.4(BAG3):c.1232_1234del (p.Gly411del)
|
rs761727804
|
|
|
NM_004281.4(BAG3):c.1238C>G (p.Ala413Gly)
|
|
|
|
NM_004281.4(BAG3):c.1240G>T (p.Glu414Ter)
|
rs117749531
|
|
|
NM_004281.4(BAG3):c.1241A>G (p.Glu414Gly)
|
rs2134069093
|
|
|
NM_004281.4(BAG3):c.1242G>C (p.Glu414Asp)
|
rs1847243505
|
|
|
NM_004281.4(BAG3):c.1243G>T (p.Ala415Ser)
|
rs1248733449
|
|
|
NM_004281.4(BAG3):c.1244C>A (p.Ala415Asp)
|
rs1847243574
|
|
|
NM_004281.4(BAG3):c.1246C>T (p.Pro416Ser)
|
|
|
|
NM_004281.4(BAG3):c.1248C>G (p.Pro416=)
|
|
|
|
NM_004281.4(BAG3):c.1249C>T (p.Pro417Ser)
|
rs1589632706
|
|
|
NM_004281.4(BAG3):c.1251A>G (p.Pro417=)
|
rs1589632714
|
|
|
NM_004281.4(BAG3):c.1252A>G (p.Lys418Glu)
|
|
|
|
NM_004281.4(BAG3):c.1258C>G (p.Pro420Ala)
|
|
|
|
NM_004281.4(BAG3):c.1259C>A (p.Pro420Gln)
|
|
|
|
NM_004281.4(BAG3):c.1259C>T (p.Pro420Leu)
|
rs1303615373
|
|
|
NM_004281.4(BAG3):c.125A>G (p.His42Arg)
|
rs1846844504
|
|
|
NM_004281.4(BAG3):c.1260A>C (p.Pro420=)
|
|
|
|
NM_004281.4(BAG3):c.1260A>G (p.Pro420=)
|
rs781193139
|
|
|
NM_004281.4(BAG3):c.1262G>A (p.Gly421Glu)
|
rs886039025
|
|
|
NM_004281.4(BAG3):c.1263A>C (p.Gly421=)
|
rs2134069125
|
|
|
NM_004281.4(BAG3):c.126C>G (p.His42Gln)
|
|
|
|
NM_004281.4(BAG3):c.1284C>A (p.Ile428=)
|
|
|
|
NM_004281.4(BAG3):c.1286T>C (p.Leu429Pro)
|
rs1847244354
|
|
|
NM_004281.4(BAG3):c.1292dup (p.Val432fs)
|
rs886039182
|
|
|
NM_004281.4(BAG3):c.1293G>C (p.Lys431Asn)
|
|
|
|
NM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter)
|
|
|
|
NM_004281.4(BAG3):c.1298A>G (p.Gln433Arg)
|
rs886046755
|
|
|
NM_004281.4(BAG3):c.1302G>A (p.Gly434=)
|
rs1337912162
|
|
|
NM_004281.4(BAG3):c.1302G>T (p.Gly434=)
|
|
|
|
NM_004281.4(BAG3):c.1307A>G (p.Glu436Gly)
|
rs1847245034
|
|
|
NM_004281.4(BAG3):c.1314T>C (p.Ala438=)
|
|
|
|
NM_004281.4(BAG3):c.1318G>A (p.Asp440Asn)
|
rs878854652
|
|
|
NM_004281.4(BAG3):c.1323C>G (p.Asn441Lys)
|
rs1325704409
|
|
|
NM_004281.4(BAG3):c.1326dup (p.Glu443Ter)
|
rs2134069217
|
|
|
NM_004281.4(BAG3):c.132C>T (p.Ser44=)
|
rs2134050640
|
|
|
NM_004281.4(BAG3):c.1334A>G (p.Lys445Arg)
|
|
|
|
NM_004281.4(BAG3):c.133C>A (p.Arg45Ser)
|
rs747820097
|
|
|
NM_004281.4(BAG3):c.133C>G (p.Arg45Gly)
|
|
|
|
NM_004281.4(BAG3):c.1344C>T (p.Asp448=)
|
rs727504796
|
|
|
NM_004281.4(BAG3):c.1345A>T (p.Lys449Ter)
|
rs1060502815
|
|
|
NM_004281.4(BAG3):c.1348A>T (p.Lys450Ter)
|
rs765426544
|
|
|
NM_004281.4(BAG3):c.1353C>A (p.Tyr451Ter)
|
rs2134069248
|
|
|
NM_004281.4(BAG3):c.1355T>C (p.Leu452Pro)
|
|
|
|
NM_004281.4(BAG3):c.1356G>A (p.Leu452=)
|
rs2134069254
|
|
|
NM_004281.4(BAG3):c.1361T>C (p.Ile454Thr)
|
|
|
|
NM_004281.4(BAG3):c.1362C>A (p.Ile454=)
|
|
|
|
NM_004281.4(BAG3):c.1362C>G (p.Ile454Met)
|
rs372417286
|
|
|
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys)
|
rs397516881
|
|
|
NM_004281.4(BAG3):c.1366G>A (p.Glu456Lys)
|
|
|
|
NM_004281.4(BAG3):c.1368G>C (p.Glu456Asp)
|
|
|
|
NM_004281.4(BAG3):c.1369T>C (p.Tyr457His)
|
rs1470778691
|
|
|
NM_004281.4(BAG3):c.136A>T (p.Thr46Ser)
|
rs771633629
|
|
|
NM_004281.4(BAG3):c.1379A>G (p.Lys460Arg)
|
|
|
|
NM_004281.4(BAG3):c.137C>T (p.Thr46Ile)
|
|
|
|
NM_004281.4(BAG3):c.1394T>C (p.Leu465Pro)
|
rs1564776841
|
|
|
NM_004281.4(BAG3):c.1396G>A (p.Asp466Asn)
|
rs1564776847
|
|
|
NM_004281.4(BAG3):c.1401A>G (p.Ser467=)
|
rs1452240685
|
|
|
NM_004281.4(BAG3):c.1408C>A (p.Pro470Thr)
|
|
|
|
NM_004281.4(BAG3):c.1408C>T (p.Pro470Ser)
|
rs756020699
|
|
|
NM_004281.4(BAG3):c.1409C>T (p.Pro470Leu)
|
rs779539475
|
|
|
NM_004281.4(BAG3):c.1410del (p.Glu471fs)
|
rs2134069295
|
|
|
NM_004281.4(BAG3):c.1411G>C (p.Glu471Gln)
|
|
|
|
NM_004281.4(BAG3):c.1413G>A (p.Glu471=)
|
|
|
|
NM_004281.4(BAG3):c.1414G>A (p.Gly472Arg)
|
rs1847246944
|
|
|
NM_004281.4(BAG3):c.1414G>T (p.Gly472Ter)
|
|
|
|
NM_004281.4(BAG3):c.1417C>T (p.Arg473Ter)
|
rs199682693
|
|
|
NM_004281.4(BAG3):c.1420G>A (p.Ala474Thr)
|
rs2134069318
|
|
|
NM_004281.4(BAG3):c.1428G>A (p.Val476=)
|
rs1589632894
|
|
|
NM_004281.4(BAG3):c.142A>C (p.Thr48Pro)
|
rs794728980
|
|
|
NM_004281.4(BAG3):c.1430G>A (p.Arg477His)
|
rs387906876
|
|
|
NM_004281.4(BAG3):c.143C>A (p.Thr48Lys)
|
rs1229267488
|
|
|
NM_004281.4(BAG3):c.1440G>A (p.Arg480=)
|
rs1199766314
|
|
|
NM_004281.4(BAG3):c.1442G>C (p.Arg481Thr)
|
|
|
|
NM_004281.4(BAG3):c.1445dup (p.Asp482fs)
|
|
|
|
NM_004281.4(BAG3):c.1449T>G (p.Gly483=)
|
rs1589632914
|
|
|
NM_004281.4(BAG3):c.1450G>A (p.Val484Ile)
|
|
|
|
NM_004281.4(BAG3):c.1451T>A (p.Val484Asp)
|
rs2134069365
|
|
|
NM_004281.4(BAG3):c.1452C>A (p.Val484=)
|
rs1564776918
|
|
|
NM_004281.4(BAG3):c.1453A>G (p.Arg485Gly)
|
rs2134069371
|
|
|
NM_004281.4(BAG3):c.1455G>A (p.Arg485=)
|
rs933568303
|
|
|
NM_004281.4(BAG3):c.146G>A (p.Trp49Ter)
|
rs1564767043
|
|
|
NM_004281.4(BAG3):c.1470C>T (p.Ile490=)
|
rs941119140
|
|
|
NM_004281.4(BAG3):c.1471T>G (p.Leu491Val)
|
|
|
|
NM_004281.4(BAG3):c.147G>A (p.Trp49Ter)
|
|
|
|
NM_004281.4(BAG3):c.1480C>T (p.Leu494Phe)
|
|
|
|
NM_004281.4(BAG3):c.1481T>C (p.Leu494Pro)
|
|
|
|
NM_004281.4(BAG3):c.1485A>G (p.Glu495=)
|
rs778242238
|
|
|
NM_004281.4(BAG3):c.1489A>C (p.Lys497Gln)
|
|
|
|
NM_004281.4(BAG3):c.1491A>G (p.Lys497=)
|
rs2134069390
|
|
|
NM_004281.4(BAG3):c.1491del (p.Ala498fs)
|
|
|
|
NM_004281.4(BAG3):c.1492G>T (p.Ala498Ser)
|
|
|
|
NM_004281.4(BAG3):c.1494C>T (p.Ala498=)
|
|
|
|
NM_004281.4(BAG3):c.1496T>C (p.Ile499Thr)
|
rs1405717595
|
|
|
NM_004281.4(BAG3):c.1496_1506del (p.Ile499fs)
|
|
|
|
NM_004281.4(BAG3):c.1498G>T (p.Asp500Tyr)
|
|
|
|
NM_004281.4(BAG3):c.149A>G (p.Asn50Ser)
|
|
|
|
NM_004281.4(BAG3):c.1503C>T (p.Val501=)
|
rs147277075
|
|
|
NM_004281.4(BAG3):c.1504C>G (p.Pro502Ala)
|
rs1564776954
|
|
|
NM_004281.4(BAG3):c.1504C>T (p.Pro502Ser)
|
|
|
|
NM_004281.4(BAG3):c.1507G>A (p.Gly503Ser)
|
|
|
|
NM_004281.4(BAG3):c.1511_1521del (p.Gln504fs)
|
|
|
|
NM_004281.4(BAG3):c.1519del (p.Val507fs)
|
rs2134069410
|
|
|
NM_004281.4(BAG3):c.151G>A (p.Asp51Asn)
|
|
|
|
NM_004281.4(BAG3):c.1527A>G (p.Glu509=)
|
rs1554877837
|
|
|
NM_004281.4(BAG3):c.1531C>A (p.Gln511Lys)
|
|
|
|
NM_004281.4(BAG3):c.1531C>T (p.Gln511Ter)
|
rs781630937
|
|
|
NM_004281.4(BAG3):c.1534C>T (p.Pro512Ser)
|
rs770086669
|
|
|
NM_004281.4(BAG3):c.1536C>T (p.Pro512=)
|
|
|
|
NM_004281.4(BAG3):c.1537A>G (p.Ser513Gly)
|
|
|
|
NM_004281.4(BAG3):c.1538G>C (p.Ser513Thr)
|
|
|
|
NM_004281.4(BAG3):c.1539C>T (p.Ser513=)
|
|
|
|
NM_004281.4(BAG3):c.1541A>G (p.Asn514Ser)
|
rs1564776999
|
|
|
NM_004281.4(BAG3):c.1542C>T (p.Asn514=)
|
|
|
|
NM_004281.4(BAG3):c.1543C>T (p.Leu515Phe)
|
|
|
|
NM_004281.4(BAG3):c.1549G>T (p.Ala517Ser)
|
|
|
|
NM_004281.4(BAG3):c.1552G>C (p.Asp518His)
|
|
|
|
NM_004281.4(BAG3):c.1554T>A (p.Asp518Glu)
|
rs139125612
|
|
|
NM_004281.4(BAG3):c.1554T>C (p.Asp518=)
|
|
|
|
NM_004281.4(BAG3):c.155C>G (p.Pro52Arg)
|
rs1846845477
|
|
|
NM_004281.4(BAG3):c.1565A>G (p.Gln522Arg)
|
|
|
|
NM_004281.4(BAG3):c.1566G>A (p.Gln522=)
|
|
|
|
NM_004281.4(BAG3):c.1567G>A (p.Ala523Thr)
|
|
|
|
NM_004281.4(BAG3):c.156G>A (p.Pro52=)
|
rs1343121998
|
|
|
NM_004281.4(BAG3):c.1570A>T (p.Ile524Phe)
|
rs764925485
|
|
|
NM_004281.4(BAG3):c.1573A>C (p.Met525Leu)
|
|
|
|
NM_004281.4(BAG3):c.1574T>C (p.Met525Thr)
|
rs2134069468
|
|
|
NM_004281.4(BAG3):c.1578G>A (p.Glu526=)
|
|
|
|
NM_004281.4(BAG3):c.1585G>T (p.Ala529Ser)
|
|
|
|
NM_004281.4(BAG3):c.1586C>T (p.Ala529Val)
|
rs369690617
|
|
|
NM_004281.4(BAG3):c.1587C>G (p.Ala529=)
|
rs149358702
|
|
|
NM_004281.4(BAG3):c.1591G>T (p.Ala531Ser)
|
|
|
|
NM_004281.4(BAG3):c.1598A>C (p.Asp533Ala)
|
rs2134069483
|
|
|
NM_004281.4(BAG3):c.1599C>A (p.Asp533Glu)
|
rs749576988
|
|
|
NM_004281.4(BAG3):c.1599C>G (p.Asp533Glu)
|
|
|
|
NM_004281.4(BAG3):c.15C>G (p.Thr5=)
|
rs1371817400
|
|
|
NM_004281.4(BAG3):c.1601A>G (p.Lys534Arg)
|
rs2134069486
|
|
|
NM_004281.4(BAG3):c.1601A>T (p.Lys534Met)
|
rs2134069486
|
|
|
NM_004281.4(BAG3):c.1604G>C (p.Gly535Ala)
|
|
|
|
NM_004281.4(BAG3):c.160G>C (p.Val54Leu)
|
rs1846845663
|
|
|
NM_004281.4(BAG3):c.160del (p.Val54fs)
|
|
|
|
NM_004281.4(BAG3):c.1626A>G (p.Ala542=)
|
rs1589633066
|
|
|
NM_004281.4(BAG3):c.1627G>C (p.Glu543Gln)
|
|
|
|
NM_004281.4(BAG3):c.1628A>C (p.Glu543Ala)
|
|
|
|
NM_004281.4(BAG3):c.1628A>G (p.Glu543Gly)
|
|
|
|
NM_004281.4(BAG3):c.1629A>T (p.Glu543Asp)
|
|
|
|
NM_004281.4(BAG3):c.1630G>A (p.Asp544Asn)
|
rs786205466
|
|
|
NM_004281.4(BAG3):c.1630G>C (p.Asp544His)
|
rs786205466
|
|
|
NM_004281.4(BAG3):c.1632_1658dup (p.Asp544_Pro552dup)
|
rs2134069510
|
|
|
NM_004281.4(BAG3):c.1632del (p.His546fs)
|
rs2134069512
|
|
|
NM_004281.4(BAG3):c.1633C>G (p.Pro545Ala)
|
|
|
|
NM_004281.4(BAG3):c.1635C>T (p.Pro545=)
|
|
|
|
NM_004281.4(BAG3):c.1639A>G (p.Thr547Ala)
|
|
|
|
NM_004281.4(BAG3):c.1646C>G (p.Thr549Ser)
|
|
|
|
NM_004281.4(BAG3):c.1646_1652del (p.Thr549fs)
|
|
|
|
NM_004281.4(BAG3):c.1649A>G (p.Gln550Arg)
|
rs2134069541
|
|
|
NM_004281.4(BAG3):c.1653G>A (p.Gln551=)
|
|
|
|
NM_004281.4(BAG3):c.1655_1692del (p.Pro552fs)
|
|
|
|
NM_004281.4(BAG3):c.1659A>C (p.Glu553Asp)
|
rs763530097
|
|
|
NM_004281.4(BAG3):c.165C>T (p.Pro55=)
|
rs988033291
|
|
|
NM_004281.4(BAG3):c.165del (p.Ser56fs)
|
rs2134050674
|
|
|
NM_004281.4(BAG3):c.1663_1666dup (p.Ala556fs)
|
rs1273311196
|
|
|
NM_004281.4(BAG3):c.1667C>A (p.Ala556Glu)
|
rs886046756
|
|
|
NM_004281.4(BAG3):c.1667C>T (p.Ala556Val)
|
rs886046756
|
|
|
NM_004281.4(BAG3):c.1669G>A (p.Ala557Thr)
|
rs1847253063
|
|
|
NM_004281.4(BAG3):c.1679C>G (p.Ser560Ter)
|
|
|
|
NM_004281.4(BAG3):c.1682A>C (p.Asn561Thr)
|
|
|
|
NM_004281.4(BAG3):c.1683C>T (p.Asn561=)
|
|
|
|
NM_004281.4(BAG3):c.1684C>A (p.Pro562Thr)
|
|
|
|
NM_004281.4(BAG3):c.1685C>G (p.Pro562Arg)
|
|
|
|
NM_004281.4(BAG3):c.1687A>C (p.Ser563Arg)
|
rs1240662655
|
|
|
NM_004281.4(BAG3):c.1687A>G (p.Ser563Gly)
|
|
|
|
NM_004281.4(BAG3):c.1693A>G (p.Met565Val)
|
rs756485989
|
|
|
NM_004281.4(BAG3):c.1693A>T (p.Met565Leu)
|
|
|
|
NM_004281.4(BAG3):c.1694T>A (p.Met565Lys)
|
|
|
|
NM_004281.4(BAG3):c.1699_1702dup (p.Thr568fs)
|
rs2134069586
|
|
|
NM_004281.4(BAG3):c.1702A>C (p.Thr568Pro)
|
rs1407009048
|
|
|
NM_004281.4(BAG3):c.1703C>G (p.Thr568Ser)
|
rs1564777190
|
|
|
NM_004281.4(BAG3):c.1704C>T (p.Thr568=)
|
|
|
|
NM_004281.4(BAG3):c.1709G>A (p.Gly570Asp)
|
|
|
|
NM_004281.4(BAG3):c.170A>G (p.Glu57Gly)
|
|
|
|
NM_004281.4(BAG3):c.1717dup (p.Ala573fs)
|
rs2134069610
|
|
|
NM_004281.4(BAG3):c.1724C>G (p.Pro575Arg)
|
rs748233260
|
|
|
NM_004281.4(BAG3):c.1725G>T (p.Pro575=)
|
|
|
|
NM_004281.4(BAG3):c.1728G>A (p.Ter576=)
|
|
|
|
NM_004281.4(BAG3):c.173G>T (p.Gly58Val)
|
rs138785335
|
|
|
NM_004281.4(BAG3):c.174C>T (p.Gly58=)
|
|
|
|
NM_004281.4(BAG3):c.176C>G (p.Pro59Arg)
|
|
|
|
NM_004281.4(BAG3):c.180+10G>C
|
rs1060504721
|
|
|
NM_004281.4(BAG3):c.180+11C>T
|
|
|
|
NM_004281.4(BAG3):c.180+13C>T
|
rs727504938
|
|
|
NM_004281.4(BAG3):c.180+14G>A
|
|
|
|
NM_004281.4(BAG3):c.180+19_180+20delinsTT
|
rs2134050718
|
|
|
NM_004281.4(BAG3):c.180+20C>T
|
|
|
|
NM_004281.4(BAG3):c.180+5G>A
|
|
|
|
NM_004281.4(BAG3):c.180+5G>C
|
rs1435201335
|
|
|
NM_004281.4(BAG3):c.181-18C>A
|
|
|
|
NM_004281.4(BAG3):c.181-20T>C
|
|
|
|
NM_004281.4(BAG3):c.181-6T>C
|
rs2134063120
|
|
|
NM_004281.4(BAG3):c.185C>T (p.Thr62Ile)
|
rs1847119419
|
|
|
NM_004281.4(BAG3):c.18C>G (p.His6Gln)
|
|
|
|
NM_004281.4(BAG3):c.192C>T (p.Ser64=)
|
rs2134063144
|
|
|
NM_004281.4(BAG3):c.199A>T (p.Asn67Tyr)
|
|
|
|
NM_004281.4(BAG3):c.1A>C (p.Met1Leu)
|
|
|
|
NM_004281.4(BAG3):c.200A>G (p.Asn67Ser)
|
rs572036022
|
|
|
NM_004281.4(BAG3):c.200A>T (p.Asn67Ile)
|
|
|
|
NM_004281.4(BAG3):c.206dup (p.Ser70fs)
|
rs1554876984
|
|
|
NM_004281.4(BAG3):c.209C>T (p.Ser70Phe)
|
rs1847119887
|
|
|
NM_004281.4(BAG3):c.20C>T (p.Ser7Leu)
|
|
|
|
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln)
|
rs35434411
|
|
|
NM_004281.4(BAG3):c.212G>T (p.Arg71Leu)
|
rs35434411
|
|
|
NM_004281.4(BAG3):c.21G>A (p.Ser7=)
|
|
|
|
NM_004281.4(BAG3):c.22C>T (p.Pro8Ser)
|
rs2134050454
|
|
|
NM_004281.4(BAG3):c.233C>T (p.Pro78Leu)
|
rs1277311006
|
|
|
NM_004281.4(BAG3):c.239G>T (p.Arg80Met)
|
rs1847120690
|
|
|
NM_004281.4(BAG3):c.242A>G (p.Glu81Gly)
|
|
|
|
NM_004281.4(BAG3):c.249C>T (p.His83=)
|
rs151331972
|
|
|
NM_004281.4(BAG3):c.250C>G (p.Pro84Ala)
|
|
|
|
NM_004281.4(BAG3):c.251C>G (p.Pro84Arg)
|
|
|
|
NM_004281.4(BAG3):c.255G>T (p.Val85=)
|
|
|
|
NM_004281.4(BAG3):c.258C>A (p.Tyr86Ter)
|
|
|
|
NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter)
|
rs1554876999
|
|
|
NM_004281.4(BAG3):c.259C>T (p.Pro87Ser)
|
|
|
|
NM_004281.4(BAG3):c.261C>G (p.Pro87=)
|
|
|
|
NM_004281.4(BAG3):c.261C>T (p.Pro87=)
|
rs1390921760
|
|
|
NM_004281.4(BAG3):c.262C>G (p.Gln88Glu)
|
|
|
|
NM_004281.4(BAG3):c.262C>T (p.Gln88Ter)
|
rs1554877001
|
|
|
NM_004281.4(BAG3):c.266T>A (p.Leu89His)
|
rs1236900746
|
|
|
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter)
|
rs1057517945
|
|
|
NM_004281.4(BAG3):c.269G>A (p.Arg90Gln)
|
|
|
|
NM_004281.4(BAG3):c.271C>T (p.Pro91Ser)
|
|
|
|
NM_004281.4(BAG3):c.272C>T (p.Pro91Leu)
|
rs1847121929
|
|
|
NM_004281.4(BAG3):c.273A>G (p.Pro91=)
|
|
|
|
NM_004281.4(BAG3):c.277T>C (p.Tyr93His)
|
rs960439911
|
|
|
NM_004281.4(BAG3):c.277T>G (p.Tyr93Asp)
|
|
|
|
NM_004281.4(BAG3):c.277dup (p.Tyr93fs)
|
rs1564773589
|
|
|
NM_004281.4(BAG3):c.27G>C (p.Met9Ile)
|
|
|
|
NM_004281.4(BAG3):c.280A>G (p.Ile94Val)
|
|
|
|
NM_004281.4(BAG3):c.280_284dup (p.Ile96fs)
|
|
|
|
NM_004281.4(BAG3):c.283C>T (p.Pro95Ser)
|
|
|
|
NM_004281.4(BAG3):c.285C>T (p.Pro95=)
|
rs2134063295
|
|
|
NM_004281.4(BAG3):c.286A>C (p.Ile96Leu)
|
rs1299147536
|
|
|
NM_004281.4(BAG3):c.286A>G (p.Ile96Val)
|
|
|
|
NM_004281.4(BAG3):c.289C>G (p.Pro97Ala)
|
|
|
|
NM_004281.4(BAG3):c.289C>T (p.Pro97Ser)
|
rs747274078
|
|
|
NM_004281.4(BAG3):c.28A>G (p.Met10Val)
|
rs779929078
|
|
|
NM_004281.4(BAG3):c.297C>T (p.Leu99=)
|
|
|
|
NM_004281.4(BAG3):c.2T>G (p.Met1Arg)
|
rs1846841605
|
|
|
NM_004281.4(BAG3):c.30G>A (p.Met10Ile)
|
rs1275338906
|
|
|
NM_004281.4(BAG3):c.30G>T (p.Met10Ile)
|
rs1275338906
|
|
|
NM_004281.4(BAG3):c.310G>C (p.Glu104Gln)
|
|
|
|
NM_004281.4(BAG3):c.312G>A (p.Glu104=)
|
|
|
|
NM_004281.4(BAG3):c.317G>A (p.Arg106Gln)
|
rs1200121142
|
|
|
NM_004281.4(BAG3):c.31C>A (p.Gln11Lys)
|
|
|
|
NM_004281.4(BAG3):c.321G>C (p.Gln107His)
|
|
|
|
NM_004281.4(BAG3):c.322G>C (p.Val108Leu)
|
rs730880053
|
|
|
NM_004281.4(BAG3):c.322G>T (p.Val108Leu)
|
rs730880053
|
|
|
NM_004281.4(BAG3):c.329C>G (p.Pro110Arg)
|
|
|
|
NM_004281.4(BAG3):c.329C>T (p.Pro110Leu)
|
rs749587347
|
|
|
NM_004281.4(BAG3):c.329dup (p.His112fs)
|
rs1344275862
|
|
|
NM_004281.4(BAG3):c.32A>T (p.Gln11Leu)
|
rs2134050474
|
|
|
NM_004281.4(BAG3):c.331_332del (p.Phe111fs)
|
rs2134063372
|
|
|
NM_004281.4(BAG3):c.332T>C (p.Phe111Ser)
|
rs1847124056
|
|
|
NM_004281.4(BAG3):c.335A>G (p.His112Arg)
|
|
|
|
NM_004281.4(BAG3):c.33G>A (p.Gln11=)
|
|
|
|
NM_004281.4(BAG3):c.340T>C (p.Tyr114His)
|
rs1589628873
|
|
|
NM_004281.4(BAG3):c.346C>T (p.Gln116Ter)
|
|
|
|
NM_004281.4(BAG3):c.351_352insTGGATGCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGCGGCGGCGGCAGCCCAGCCCCCAGCCT (p.Gly118fs)
|
|
|
|
NM_004281.4(BAG3):c.355A>G (p.Met119Val)
|
rs1334163509
|
|
|
NM_004281.4(BAG3):c.358C>T (p.Gln120Ter)
|
|
|
|
NM_004281.4(BAG3):c.359A>G (p.Gln120Arg)
|
|
|
|
NM_004281.4(BAG3):c.359A>T (p.Gln120Leu)
|
rs1847125036
|
|
|
NM_004281.4(BAG3):c.361C>T (p.Arg121Ter)
|
rs2134063421
|
|
|
NM_004281.4(BAG3):c.36G>A (p.Val12=)
|
rs1232169723
|
|
|
NM_004281.4(BAG3):c.36_40del (p.Ala13fs)
|
|
|
|
NM_004281.4(BAG3):c.375G>T (p.Glu125Asp)
|
rs2134063438
|
|
|
NM_004281.4(BAG3):c.377C>T (p.Ala126Val)
|
rs1847125430
|
|
|
NM_004281.4(BAG3):c.378G>C (p.Ala126=)
|
|
|
|
NM_004281.4(BAG3):c.37G>C (p.Ala13Pro)
|
|
|
|
NM_004281.4(BAG3):c.384A>G (p.Ala128=)
|
|
|
|
NM_004281.4(BAG3):c.387G>A (p.Ala129=)
|
rs764875756
|
|
|
NM_004281.4(BAG3):c.38C>T (p.Ala13Val)
|
|
|
|
NM_004281.4(BAG3):c.38_39dup (p.Ser14fs)
|
rs2134050486
|
|
|
NM_004281.4(BAG3):c.391C>G (p.Pro131Ala)
|
rs140672627
|
|
|
NM_004281.4(BAG3):c.392C>T (p.Pro131Leu)
|
rs778224688
|
|
|
NM_004281.4(BAG3):c.399G>A (p.Arg133=)
|
rs2134063469
|
|
|
NM_004281.4(BAG3):c.403C>T (p.Gln135Ter)
|
rs1847126002
|
|
|
NM_004281.4(BAG3):c.410C>G (p.Pro137Arg)
|
rs781456794
|
|
|
NM_004281.4(BAG3):c.41C>T (p.Ser14Phe)
|
rs2134050488
|
|
|
NM_004281.4(BAG3):c.420C>T (p.Gly140=)
|
rs1847126515
|
|
|
NM_004281.4(BAG3):c.421A>G (p.Met141Val)
|
|
|
|
NM_004281.4(BAG3):c.430A>G (p.Thr144Ala)
|
|
|
|
NM_004281.4(BAG3):c.431_445dup (p.Thr144_Asp148dup)
|
rs2134063514
|
|
|
NM_004281.4(BAG3):c.434_437del (p.Thr145fs)
|
|
|
|
NM_004281.4(BAG3):c.445A>G (p.Lys149Glu)
|
rs2134063528
|
|
|
NM_004281.4(BAG3):c.448C>T (p.Gln150Ter)
|
|
|
|
NM_004281.4(BAG3):c.448_449del (p.Gln150fs)
|
|
|
|
NM_004281.4(BAG3):c.451_452inv (p.Cys151His)
|
|
|
|
NM_004281.4(BAG3):c.456A>G (p.Gly152=)
|
|
|
|
NM_004281.4(BAG3):c.457C>T (p.Gln153Ter)
|
rs1474660052
|
|
|
NM_004281.4(BAG3):c.458A>G (p.Gln153Arg)
|
|
|
|
NM_004281.4(BAG3):c.460G>A (p.Val154Met)
|
rs376198104
|
|
|
NM_004281.4(BAG3):c.461T>C (p.Val154Ala)
|
rs1405459015
|
|
|
NM_004281.4(BAG3):c.462_464dup (p.Ala160dup)
|
rs1339191406
|
|
|
NM_004281.4(BAG3):c.464C>T (p.Ala155Val)
|
|
|
|
NM_004281.4(BAG3):c.465_467dup (p.Ala160_Gln161insAla)
|
|
|
|
NM_004281.4(BAG3):c.466G>A (p.Ala156Thr)
|
|
|
|
NM_004281.4(BAG3):c.467C>A (p.Ala156Glu)
|
rs572038196
|
|
|
NM_004281.4(BAG3):c.467C>G (p.Ala156Gly)
|
rs572038196
|
|
|
NM_004281.4(BAG3):c.467C>T (p.Ala156Val)
|
rs572038196
|
|
|
NM_004281.4(BAG3):c.468GGC[2] (p.Ala160del)
|
|
|
|
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup)
|
rs139438727
|
|
|
NM_004281.4(BAG3):c.474G>A (p.Ala158=)
|
rs976641994
|
|
|
NM_004281.4(BAG3):c.477_479dup (p.Ala160_Gln161insAla)
|
|
|
|
NM_004281.4(BAG3):c.478G>A (p.Ala160Thr)
|
|
|
|
NM_004281.4(BAG3):c.479C>T (p.Ala160Val)
|
|
|
|
NM_004281.4(BAG3):c.484C>A (p.Pro162Thr)
|
rs2134063622
|
|
|
NM_004281.4(BAG3):c.484C>T (p.Pro162Ser)
|
rs2134063622
|
|
|
NM_004281.4(BAG3):c.488del (p.Pro163fs)
|
rs1847128695
|
|
|
NM_004281.4(BAG3):c.490G>T (p.Ala164Ser)
|
|
|
|
NM_004281.4(BAG3):c.495C>T (p.Ser165=)
|
rs35261472
|
|
|
NM_004281.4(BAG3):c.499G>A (p.Gly167Arg)
|
rs543720798
|
|
|
NM_004281.4(BAG3):c.49G>C (p.Gly17Arg)
|
rs727502895
|
|
|
NM_004281.4(BAG3):c.501A>G (p.Gly167=)
|
rs1589629040
|
|
|
NM_004281.4(BAG3):c.502C>T (p.Pro168Ser)
|
rs1554877071
|
|
|
NM_004281.4(BAG3):c.507+10G>A
|
|
|
|
NM_004281.4(BAG3):c.507+15G>C
|
|
|
|
NM_004281.4(BAG3):c.507+16G>A
|
rs376346659
|
|
|
NM_004281.4(BAG3):c.507+5G>A
|
|
|
|
NM_004281.4(BAG3):c.507+7A>G
|
rs2134063657
|
|
|
NM_004281.4(BAG3):c.507G>C (p.Glu169Asp)
|
rs1060502812
|
|
|
NM_004281.4(BAG3):c.508-14_514del
|
rs2134064890
|
|
|
NM_004281.4(BAG3):c.508-18A>T
|
rs755529596
|
|
|
NM_004281.4(BAG3):c.508-1G>A
|
|
|
|
NM_004281.4(BAG3):c.508-3C>G
|
rs1400338528
|
|
|
NM_004281.4(BAG3):c.508-4_519dup
|
rs1847159825
|
|
|
NM_004281.4(BAG3):c.508-7_508-6del
|
|
|
|
NM_004281.4(BAG3):c.512C>A (p.Ser171Tyr)
|
rs794728978
|
|
|
NM_004281.4(BAG3):c.514C>T (p.Gln172Ter)
|
rs1589630001
|
|
|
NM_004281.4(BAG3):c.520C>G (p.Pro174Ala)
|
|
|
|
NM_004281.4(BAG3):c.520C>T (p.Pro174Ser)
|
rs1472073020
|
|
|
NM_004281.4(BAG3):c.528C>T (p.Ala176=)
|
rs796123466
|
|
|
NM_004281.4(BAG3):c.529T>C (p.Ser177Pro)
|
|
|
|
NM_004281.4(BAG3):c.530_531del (p.Ala176_Ser177insTer)
|
rs2134064943
|
|
|
NM_004281.4(BAG3):c.533A>G (p.Asp178Gly)
|
|
|
|
NM_004281.4(BAG3):c.534C>G (p.Asp178Glu)
|
rs1847160690
|
|
|
NM_004281.4(BAG3):c.535T>A (p.Cys179Ser)
|
|
|
|
NM_004281.4(BAG3):c.536G>A (p.Cys179Tyr)
|
|
|
|
NM_004281.4(BAG3):c.537C>A (p.Cys179Ter)
|
rs1564774433
|
|
|
NM_004281.4(BAG3):c.538T>C (p.Ser180Pro)
|
|
|
|
NM_004281.4(BAG3):c.538T>G (p.Ser180Ala)
|
|
|
|
NM_004281.4(BAG3):c.540A>C (p.Ser180=)
|
|
|
|
NM_004281.4(BAG3):c.541_542delinsAA (p.Ser181Asn)
|
|
|
|
NM_004281.4(BAG3):c.545C>T (p.Ser182Leu)
|
rs1428247151
|
|
|
NM_004281.4(BAG3):c.547T>C (p.Ser183Pro)
|
rs772491154
|
|
|
NM_004281.4(BAG3):c.549CTC[1] (p.Ser185del)
|
rs763170019
|
|
|
NM_004281.4(BAG3):c.54C>T (p.Asp18=)
|
rs866659159
|
|
|
NM_004281.4(BAG3):c.550T>A (p.Ser184Thr)
|
|
|
|
NM_004281.4(BAG3):c.550T>G (p.Ser184Ala)
|
|
|
|
NM_004281.4(BAG3):c.551C>T (p.Ser184Phe)
|
rs1450366653
|
|
|
NM_004281.4(BAG3):c.555G>A (p.Ser185=)
|
rs1247645930
|
|
|
NM_004281.4(BAG3):c.556G>C (p.Ala186Pro)
|
rs2134064990
|
|
|
NM_004281.4(BAG3):c.564G>A (p.Leu188=)
|
|
|
|
NM_004281.4(BAG3):c.565_588del (p.Pro189_Leu196del)
|
|
|
|
NM_004281.4(BAG3):c.574G>T (p.Gly192Cys)
|
rs201487919
|
|
|
NM_004281.4(BAG3):c.576C>T (p.Gly192=)
|
rs1384999606
|
|
|
NM_004281.4(BAG3):c.580A>G (p.Ser194Gly)
|
|
|
|
NM_004281.4(BAG3):c.582C>G (p.Ser194Arg)
|
rs927441881
|
|
|
NM_004281.4(BAG3):c.583A>G (p.Ser195Gly)
|
|
|
|
NM_004281.4(BAG3):c.589G>A (p.Gly197Ser)
|
|
|
|
NM_004281.4(BAG3):c.58G>A (p.Asp20Asn)
|
rs1846842832
|
|
|
NM_004281.4(BAG3):c.590G>A (p.Gly197Asp)
|
|
|
|
NM_004281.4(BAG3):c.592A>T (p.Ser198Cys)
|
|
|
|
NM_004281.4(BAG3):c.598C>T (p.Gln200Ter)
|
rs2134065052
|
|
|
NM_004281.4(BAG3):c.5G>A (p.Ser2Asn)
|
rs1396002893
|
|
|
NM_004281.4(BAG3):c.600G>C (p.Gln200His)
|
rs768201611
|
|
|
NM_004281.4(BAG3):c.606G>A (p.Pro202=)
|
rs74157690
|
|
|
NM_004281.4(BAG3):c.607dup (p.Arg203fs)
|
rs1554877224
|
|
|
NM_004281.4(BAG3):c.608G>A (p.Arg203Gln)
|
rs1057524225
|
|
|
NM_004281.4(BAG3):c.608G>C (p.Arg203Pro)
|
rs1057524225
|
|
|
NM_004281.4(BAG3):c.609G>C (p.Arg203=)
|
rs1472491342
|
|
|
NM_004281.4(BAG3):c.610G>A (p.Gly204Arg)
|
rs1187185992
|
|
|
NM_004281.4(BAG3):c.612del (p.Tyr205fs)
|
rs2134065084
|
|
|
NM_004281.4(BAG3):c.61C>G (p.Pro21Ala)
|
|
|
|
NM_004281.4(BAG3):c.622A>C (p.Ile208Leu)
|
rs1008797667
|
|
|
NM_004281.4(BAG3):c.622A>G (p.Ile208Val)
|
|
|
|
NM_004281.4(BAG3):c.623T>C (p.Ile208Thr)
|
rs1847163339
|
|
|
NM_004281.4(BAG3):c.625C>G (p.Pro209Ala)
|
rs1589630141
|
|
|
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)
|
rs1589630141
|
|
|
NM_004281.4(BAG3):c.626C>A (p.Pro209Gln)
|
rs121918312
|
|
|
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)
|
rs121918312
|
|
|
NM_004281.4(BAG3):c.627G>C (p.Pro209=)
|
rs188555685
|
|
|
NM_004281.4(BAG3):c.628G>T (p.Val210Leu)
|
rs2134065126
|
|
|
NM_004281.4(BAG3):c.62C>G (p.Pro21Arg)
|
rs1589619881
|
|
|
NM_004281.4(BAG3):c.631A>G (p.Ile211Val)
|
|
|
|
NM_004281.4(BAG3):c.631A>T (p.Ile211Leu)
|
|
|
|
NM_004281.4(BAG3):c.634C>A (p.His212Asn)
|
rs752772180
|
|
|
NM_004281.4(BAG3):c.637G>A (p.Glu213Lys)
|
rs1311591078
|
|
|
NM_004281.4(BAG3):c.639G>A (p.Glu213=)
|
|
|
|
NM_004281.4(BAG3):c.640C>T (p.Gln214Ter)
|
rs2134065136
|
|
|
NM_004281.4(BAG3):c.645C>A (p.Asn215Lys)
|
rs138078305
|
|
|
NM_004281.4(BAG3):c.651C>T (p.Thr217=)
|
|
|
|
NM_004281.4(BAG3):c.654del (p.Pro219fs)
|
rs2134065158
|
|
|
NM_004281.4(BAG3):c.655C>T (p.Pro219Ser)
|
rs1847164115
|
|
|
NM_004281.4(BAG3):c.658G>A (p.Ala220Thr)
|
rs1847164154
|
|
|
NM_004281.4(BAG3):c.663C>T (p.Ala221=)
|
|
|
|
NM_004281.4(BAG3):c.665A>G (p.Gln222Arg)
|
|
|
|
NM_004281.4(BAG3):c.666G>T (p.Gln222His)
|
|
|
|
NM_004281.4(BAG3):c.667C>A (p.Pro223Thr)
|
|
|
|
NM_004281.4(BAG3):c.667C>G (p.Pro223Ala)
|
|
|
|
NM_004281.4(BAG3):c.668C>T (p.Pro223Leu)
|
rs754615028
|
|
|
NM_004281.4(BAG3):c.673T>C (p.Phe225Leu)
|
rs1847164443
|
|
|
NM_004281.4(BAG3):c.677A>G (p.His226Arg)
|
rs1554877252
|
|
|
NM_004281.4(BAG3):c.68C>T (p.Pro23Leu)
|
rs1846843077
|
|
|
NM_004281.4(BAG3):c.693G>C (p.Thr231=)
|
|
|
|
NM_004281.4(BAG3):c.694C>G (p.His232Asp)
|
rs2134065202
|
|
|
NM_004281.4(BAG3):c.695A>C (p.His232Pro)
|
rs746241240
|
|
|
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter)
|
rs876661342
|
|
|
NM_004281.4(BAG3):c.69C>G (p.Pro23=)
|
|
|
|
NM_004281.4(BAG3):c.702A>G (p.Pro234=)
|
|
|
|
NM_004281.4(BAG3):c.705G>T (p.Ala235=)
|
rs141328836
|
|
|
NM_004281.4(BAG3):c.70C>T (p.Pro24Ser)
|
rs2134050540
|
|
|
NM_004281.4(BAG3):c.711G>C (p.Gln237His)
|
rs369377620
|
|
|
NM_004281.4(BAG3):c.712G>A (p.Gly238Arg)
|
|
|
|
NM_004281.4(BAG3):c.714G>T (p.Gly238=)
|
|
|
|
NM_004281.4(BAG3):c.720C>G (p.Tyr240Ter)
|
|
|
|
NM_004281.4(BAG3):c.724A>G (p.Thr242Ala)
|
|
|
|
NM_004281.4(BAG3):c.727dup (p.His243fs)
|
|
|
|
NM_004281.4(BAG3):c.729C>G (p.His243Gln)
|
|
|
|
NM_004281.4(BAG3):c.72C>G (p.Pro24=)
|
|
|
|
NM_004281.4(BAG3):c.72del (p.Gly25fs)
|
rs727502897
|
|
|
NM_004281.4(BAG3):c.72dup (p.Gly25fs)
|
rs727502897
|
|
|
NM_004281.4(BAG3):c.730C>T (p.Gln244Ter)
|
rs876657634
|
|
|
NM_004281.4(BAG3):c.737T>C (p.Val246Ala)
|
rs766444344
|
|
|
NM_004281.4(BAG3):c.741C>T (p.Tyr247=)
|
|
|
|
NM_004281.4(BAG3):c.742C>T (p.His248Tyr)
|
|
|
|
NM_004281.4(BAG3):c.746A>G (p.Lys249Arg)
|
|
|
|
NM_004281.4(BAG3):c.747G>A (p.Lys249=)
|
|
|
|
NM_004281.4(BAG3):c.750C>G (p.Ile250Met)
|
|
|
|
NM_004281.4(BAG3):c.751C>T (p.Gln251Ter)
|
rs1343231277
|
|
|
NM_004281.4(BAG3):c.751del (p.Gln251fs)
|
rs1847165958
|
|
|
NM_004281.4(BAG3):c.756G>A (p.Gly252=)
|
rs1663041167
|
|
|
NM_004281.4(BAG3):c.761A>G (p.Asp254Gly)
|
rs2134065274
|
|
|
NM_004281.4(BAG3):c.765G>A (p.Trp255Ter)
|
rs1564774668
|
|
|
NM_004281.4(BAG3):c.766G>T (p.Glu256Ter)
|
rs2134065278
|
|
|
NM_004281.4(BAG3):c.768G>A (p.Glu256=)
|
rs2134065279
|
|
|
NM_004281.4(BAG3):c.76T>G (p.Trp26Gly)
|
rs1846843335
|
|
|
NM_004281.4(BAG3):c.771C>G (p.Pro257=)
|
|
|
|
NM_004281.4(BAG3):c.773G>A (p.Arg258Gln)
|
rs746551805
|
|
|
NM_004281.4(BAG3):c.776C>T (p.Pro259Leu)
|
rs757710876
|
|
|
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)
|
rs1554875409
|
|
|
NM_004281.4(BAG3):c.780G>A (p.Leu260=)
|
|
|
|
NM_004281.4(BAG3):c.781_795del (p.Arg261_Pro265del)
|
|
|
|
NM_004281.4(BAG3):c.782G>A (p.Arg261Gln)
|
rs746454994
|
|
|
NM_004281.4(BAG3):c.782G>C (p.Arg261Pro)
|
rs746454994
|
|
|
NM_004281.4(BAG3):c.784G>A (p.Ala262Thr)
|
rs876661343
|
|
|
NM_004281.4(BAG3):c.788C>T (p.Ala263Val)
|
rs1057523599
|
|
|
NM_004281.4(BAG3):c.789A>T (p.Ala263=)
|
rs2134065332
|
|
|
NM_004281.4(BAG3):c.792C>G (p.Ser264=)
|
|
|
|
NM_004281.4(BAG3):c.792C>T (p.Ser264=)
|
|
|
|
NM_004281.4(BAG3):c.7G>A (p.Ala3Thr)
|
|
|
|
NM_004281.4(BAG3):c.801G>T (p.Arg267Ser)
|
rs2134065343
|
|
|
NM_004281.4(BAG3):c.802T>C (p.Ser268Pro)
|
rs761965592
|
|
|
NM_004281.4(BAG3):c.803C>A (p.Ser268Ter)
|
|
|
|
NM_004281.4(BAG3):c.804A>T (p.Ser268=)
|
|
|
|
NM_004281.4(BAG3):c.806C>T (p.Ser269Phe)
|
|
|
|
NM_004281.4(BAG3):c.811C>T (p.Gln271Ter)
|
rs2134065350
|
|
|
NM_004281.4(BAG3):c.815G>A (p.Gly272Asp)
|
|
|
|
NM_004281.4(BAG3):c.815G>T (p.Gly272Val)
|
rs1589630345
|
|
|
NM_004281.4(BAG3):c.818C>T (p.Ala273Val)
|
rs1847166946
|
|
|
NM_004281.4(BAG3):c.819A>G (p.Ala273=)
|
rs1554877282
|
|
|
NM_004281.4(BAG3):c.822G>C (p.Ser274=)
|
rs776700820
|
|
|
NM_004281.4(BAG3):c.822G>T (p.Ser274=)
|
rs776700820
|
|
|
NM_004281.4(BAG3):c.824del (p.Ser275fs)
|
rs2134065363
|
|
|
NM_004281.4(BAG3):c.830A>T (p.Glu277Val)
|
rs762471704
|
|
|
NM_004281.4(BAG3):c.833G>T (p.Gly278Val)
|
|
|
|
NM_004281.4(BAG3):c.834C>G (p.Gly278=)
|
rs2134065380
|
|
|
NM_004281.4(BAG3):c.843C>G (p.Ala281=)
|
|
|
|
NM_004281.4(BAG3):c.843C>T (p.Ala281=)
|
|
|
|
NM_004281.4(BAG3):c.846G>A (p.Arg282=)
|
|
|
|
NM_004281.4(BAG3):c.84C>G (p.Ile28Met)
|
|
|
|
NM_004281.4(BAG3):c.851G>T (p.Ser284Ile)
|
|
|
|
NM_004281.4(BAG3):c.853A>G (p.Thr285Ala)
|
|
|
|
NM_004281.4(BAG3):c.855_859dup (p.Leu287fs)
|
rs1057518511
|
|
|
NM_004281.4(BAG3):c.864C>T (p.His288=)
|
|
|
|
NM_004281.4(BAG3):c.865T>G (p.Ser289Ala)
|
rs1160709384
|
|
|
NM_004281.4(BAG3):c.868C>G (p.Pro290Ala)
|
|
|
|
NM_004281.4(BAG3):c.870C>A (p.Pro290=)
|
rs140737221
|
|
|
NM_004281.4(BAG3):c.870C>T (p.Pro290=)
|
|
|
|
NM_004281.4(BAG3):c.871T>A (p.Ser291Thr)
|
|
|
|
NM_004281.4(BAG3):c.873G>A (p.Ser291=)
|
|
|
|
NM_004281.4(BAG3):c.874C>T (p.Pro292Ser)
|
|
|
|
NM_004281.4(BAG3):c.875C>G (p.Pro292Arg)
|
rs748451757
|
|
|
NM_004281.4(BAG3):c.875C>T (p.Pro292Leu)
|
|
|
|
NM_004281.4(BAG3):c.880C>T (p.Arg294Cys)
|
rs144585878
|
|
|
NM_004281.4(BAG3):c.884T>G (p.Val295Gly)
|
|
|
|
NM_004281.4(BAG3):c.885G>A (p.Val295=)
|
|
|
|
NM_004281.4(BAG3):c.886C>T (p.His296Tyr)
|
rs1268848002
|
|
|
NM_004281.4(BAG3):c.888C>A (p.His296Gln)
|
rs139399890
|
|
|
NM_004281.4(BAG3):c.889A>G (p.Thr297Ala)
|
rs794728979
|
|
|
NM_004281.4(BAG3):c.890C>T (p.Thr297Ile)
|
rs2134065455
|
|
|
NM_004281.4(BAG3):c.891C>G (p.Thr297=)
|
rs372571986
|
|
|
NM_004281.4(BAG3):c.895G>T (p.Val299Phe)
|
|
|
|
NM_004281.4(BAG3):c.900C>T (p.Asp300=)
|
|
|
|
NM_004281.4(BAG3):c.907C>G (p.Gln303Glu)
|
|
|
|
NM_004281.4(BAG3):c.907C>T (p.Gln303Ter)
|
|
|
|
NM_004281.4(BAG3):c.909+11T>A
|
|
|
|
NM_004281.4(BAG3):c.909+14_909+15dup
|
|
|
|
NM_004281.4(BAG3):c.909+4C>A
|
rs376351857
|
|
|
NM_004281.4(BAG3):c.909+4C>G
|
rs376351857
|
|
|
NM_004281.4(BAG3):c.909+5G>A
|
|
|
|
NM_004281.4(BAG3):c.910-10C>G
|
rs727502899
|
|
|
NM_004281.4(BAG3):c.910-16del
|
|
|
|
NM_004281.4(BAG3):c.910-17T>C
|
|
|
|
NM_004281.4(BAG3):c.910-21_910-20delinsCC
|
rs2134068620
|
|
|
NM_004281.4(BAG3):c.910-4T>A
|
rs1847235304
|
|
|
NM_004281.4(BAG3):c.910C>T (p.Gln304Ter)
|
rs2134068635
|
|
|
NM_004281.4(BAG3):c.916A>G (p.Met306Val)
|
|
|
|
NM_004281.4(BAG3):c.917T>C (p.Met306Thr)
|
rs554147128
|
|
|
NM_004281.4(BAG3):c.91G>C (p.Asp31His)
|
|
|
|
NM_004281.4(BAG3):c.921C>G (p.Thr307=)
|
|
|
|
NM_004281.4(BAG3):c.921C>T (p.Thr307=)
|
|
|
|
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)
|
rs869248137
|
|
|
NM_004281.4(BAG3):c.946C>T (p.Gln316Ter)
|
rs1847236072
|
|
|
NM_004281.4(BAG3):c.948G>T (p.Gln316His)
|
|
|
|
NM_004281.4(BAG3):c.949C>T (p.Pro317Ser)
|
rs2134068679
|
|
|
NM_004281.4(BAG3):c.957C>T (p.Asn319=)
|
|
|
|
NM_004281.4(BAG3):c.95C>G (p.Pro32Arg)
|
|
|
|
NM_004281.4(BAG3):c.95C>T (p.Pro32Leu)
|
|
|
|
NM_004281.4(BAG3):c.969_972del (p.Lys324fs)
|
rs1589632398
|
|
|
NM_004281.4(BAG3):c.96G>A (p.Pro32=)
|
rs372083121
|
|
|
NM_004281.4(BAG3):c.96_97del (p.Gln33fs)
|
|
|
|
NM_004281.4(BAG3):c.973C>G (p.Pro325Ala)
|
rs2134068715
|
|
|
NM_004281.4(BAG3):c.974del (p.Pro325fs)
|
rs1847236575
|
|
|
NM_004281.4(BAG3):c.975A>T (p.Pro325=)
|
rs1589632410
|
|
|
NM_004281.4(BAG3):c.979C>A (p.Pro327Thr)
|
|
|
|
NM_004281.4(BAG3):c.980C>G (p.Pro327Arg)
|
rs1847236737
|
|
|
NM_004281.4(BAG3):c.981A>G (p.Pro327=)
|
rs1030445553
|
|
|
NM_004281.4(BAG3):c.984T>G (p.Val328=)
|
rs753140913
|
|
|
NM_004281.4(BAG3):c.989C>T (p.Pro330Leu)
|
rs1847237047
|
|
|
NM_004281.4(BAG3):c.994C>T (p.Leu332Phe)
|
|
|
|
NM_004281.4(BAG3):c.996C>G (p.Leu332=)
|
rs2134068736
|
|
|
NM_004281.4(BAG3):c.996C>T (p.Leu332=)
|
|
|
|
NM_004281.4(BAG3):c.999T>A (p.Pro333=)
|
rs2134068740
|
|
|
NM_004281.4(BAG3):c.99G>A (p.Gln33=)
|
|
|
|
NM_004281.4(BAG3):c.99G>C (p.Gln33His)
|
rs2134050569
|
|
|
NM_004369.4(COL6A3):c.1004C>G (p.Thr335Ser)
|
|
|
|
NM_004369.4(COL6A3):c.1019G>A (p.Ser340Asn)
|
rs2106378691
|
|
|
NM_004369.4(COL6A3):c.1021C>T (p.Arg341Cys)
|
|
|
|
NM_004369.4(COL6A3):c.1022G>T (p.Arg341Leu)
|
rs140510298
|
|
|
NM_004369.4(COL6A3):c.1029G>C (p.Glu343Asp)
|
|
|
|
NM_004369.4(COL6A3):c.1035G>T (p.Gly345=)
|
rs886044426
|
|
|
NM_004369.4(COL6A3):c.1039C>G (p.Pro347Ala)
|
|
|
|
NM_004369.4(COL6A3):c.1067G>A (p.Gly356Glu)
|
rs2106378611
|
|
|
NM_004369.4(COL6A3):c.1077T>C (p.Ser359=)
|
rs886044010
|
|
|
NM_004369.4(COL6A3):c.1080C>A (p.Asp360Glu)
|
|
|
|
NM_004369.4(COL6A3):c.1081G>A (p.Glu361Lys)
|
|
|
|
NM_004369.4(COL6A3):c.108G>A (p.Ala36=)
|
rs374055173
|
|
|
NM_004369.4(COL6A3):c.108G>T (p.Ala36=)
|
rs374055173
|
|
|
NM_004369.4(COL6A3):c.1095G>C (p.Gly365=)
|
rs535498742
|
|
|
NM_004369.4(COL6A3):c.1102_1103delinsAT (p.Ala368Ile)
|
rs2106378544
|
|
|
NM_004369.4(COL6A3):c.1103C>T (p.Ala368Val)
|
|
|
|
NM_004369.4(COL6A3):c.1104A>C (p.Ala368=)
|
|
|
|
NM_004369.4(COL6A3):c.1107G>A (p.Leu369=)
|
rs2106378535
|
|
|
NM_004369.4(COL6A3):c.1119C>T (p.Ser373=)
|
|
|
|
NM_004369.4(COL6A3):c.1131C>G (p.Phe377Leu)
|
rs189772397
|
|
|
NM_004369.4(COL6A3):c.1139G>C (p.Gly380Ala)
|
|
|
|
NM_004369.4(COL6A3):c.116A>G (p.Asp39Gly)
|
rs2106388893
|
|
|
NM_004369.4(COL6A3):c.1171C>T (p.His391Tyr)
|
|
|
|
NM_004369.4(COL6A3):c.1174A>G (p.Ile392Val)
|
|
|
|
NM_004369.4(COL6A3):c.1185T>C (p.Asp395=)
|
|
|
|
NM_004369.4(COL6A3):c.1186G>A (p.Asp396Asn)
|
rs372071064
|
|
|
NM_004369.4(COL6A3):c.1187A>G (p.Asp396Gly)
|
rs1051157564
|
|
|
NM_004369.4(COL6A3):c.118A>G (p.Ile40Val)
|
|
|
|
NM_004369.4(COL6A3):c.118ATA[1] (p.Ile41del)
|
rs886042334
|
|
|
NM_004369.4(COL6A3):c.1194G>C (p.Leu398Phe)
|
rs2078180823
|
|
|
NM_004369.4(COL6A3):c.1197G>A (p.Val399=)
|
|
|
|
NM_004369.4(COL6A3):c.11A>G (p.His4Arg)
|
|
|
|
NM_004369.4(COL6A3):c.11A>T (p.His4Leu)
|
rs777465480
|
|
|
NM_004369.4(COL6A3):c.1204G>C (p.Val402Leu)
|
rs746277006
|
|
|
NM_004369.4(COL6A3):c.1209G>A (p.Pro403=)
|
|
|
|
NM_004369.4(COL6A3):c.1212A>G (p.Glu404=)
|
|
|
|
NM_004369.4(COL6A3):c.1225G>A (p.Gly409Arg)
|
|
|
|
NM_004369.4(COL6A3):c.1227G>A (p.Gly409=)
|
|
|
|
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn)
|
rs35914491
|
|
|
NM_004369.4(COL6A3):c.1228G>T (p.Asp410Tyr)
|
|
|
|
NM_004369.4(COL6A3):c.1234C>T (p.Gln412Ter)
|
|
|
|
NM_004369.4(COL6A3):c.1243T>C (p.Leu415=)
|
|
|
|
NM_004369.4(COL6A3):c.124T>G (p.Phe42Val)
|
rs1559280207
|
|
|
NM_004369.4(COL6A3):c.1250C>T (p.Pro417Leu)
|
|
|
|
NM_004369.4(COL6A3):c.1251G>A (p.Pro417=)
|
rs1162933726
|
|
|
NM_004369.4(COL6A3):c.1279A>G (p.Ile427Val)
|
|
|
|
NM_004369.4(COL6A3):c.1286T>C (p.Leu429Ser)
|
rs2078177097
|
|
|
NM_004369.4(COL6A3):c.1287G>T (p.Leu429Phe)
|
rs2078177026
|
|
|
NM_004369.4(COL6A3):c.1288A>G (p.Lys430Glu)
|
|
|
|
NM_004369.4(COL6A3):c.1293G>T (p.Pro431=)
|
|
|
|
NM_004369.4(COL6A3):c.1298C>T (p.Thr433Ile)
|
rs2106378142
|
|
|
NM_004369.4(COL6A3):c.1303G>T (p.Val435Phe)
|
rs2078176426
|
|
|
NM_004369.4(COL6A3):c.1312+12C>A
|
rs915562937
|
|
|
NM_004369.4(COL6A3):c.1312+12C>G
|
|
|
|
NM_004369.4(COL6A3):c.1312+19C>G
|
|
|
|
NM_004369.4(COL6A3):c.1313-442_1595delinsGCAAC
|
|
|
|
NM_004369.4(COL6A3):c.1316T>C (p.Ile439Thr)
|
rs2106370456
|
|
|
NM_004369.4(COL6A3):c.1323C>T (p.Val441=)
|
|
|
|
NM_004369.4(COL6A3):c.1335C>T (p.Asp445=)
|
|
|
|
NM_004369.4(COL6A3):c.1344C>T (p.Phe448=)
|
rs2106370423
|
|
|
NM_004369.4(COL6A3):c.1347G>A (p.Leu449=)
|
|
|
|
NM_004369.4(COL6A3):c.1350G>A (p.Val450=)
|
rs886043010
|
|
|
NM_004369.4(COL6A3):c.1355G>A (p.Gly452Asp)
|
rs777078456
|
|
|
NM_004369.4(COL6A3):c.136T>G (p.Ser46Ala)
|
|
|
|
NM_004369.4(COL6A3):c.1372C>T (p.Leu458=)
|
|
|
|
NM_004369.4(COL6A3):c.1388C>T (p.Ala463Val)
|
rs2106370357
|
|
|
NM_004369.4(COL6A3):c.1390A>G (p.Ile464Val)
|
|
|
|
NM_004369.4(COL6A3):c.141T>C (p.Ser47=)
|
rs2078403487
|
|
|
NM_004369.4(COL6A3):c.1435C>A (p.Gln479Lys)
|
|
|
|
NM_004369.4(COL6A3):c.1439A>G (p.Asp480Gly)
|
rs2078001580
|
|
|
NM_004369.4(COL6A3):c.144G>C (p.Trp48Cys)
|
|
|
|
NM_004369.4(COL6A3):c.1452G>T (p.Val484=)
|
rs1574726196
|
|
|
NM_004369.4(COL6A3):c.1455A>T (p.Ala485=)
|
|
|
|
NM_004369.4(COL6A3):c.1472A>T (p.Asp491Val)
|
rs2106370266
|
|
|
NM_004369.4(COL6A3):c.1476_1477inv (p.Val493Met)
|
|
|
|
NM_004369.4(COL6A3):c.1483C>A (p.Pro495Thr)
|
|
|
|
NM_004369.4(COL6A3):c.1492T>C (p.Tyr498His)
|
rs2077999753
|
|
|
NM_004369.4(COL6A3):c.1494T>C (p.Tyr498=)
|
|
|
|
NM_004369.4(COL6A3):c.1507C>A (p.Pro503Thr)
|
|
|
|
NM_004369.4(COL6A3):c.1512A>G (p.Thr504=)
|
rs199969722
|
|
|
NM_004369.4(COL6A3):c.1512A>T (p.Thr504=)
|
rs199969722
|
|
|
NM_004369.4(COL6A3):c.1521A>G (p.Glu507=)
|
rs1259919285
|
|
|
NM_004369.4(COL6A3):c.1526T>C (p.Ile509Thr)
|
rs2077998366
|
|
|
NM_004369.4(COL6A3):c.1531G>A (p.Ala511Thr)
|
|
|
|
NM_004369.4(COL6A3):c.1531G>T (p.Ala511Ser)
|
rs775165275
|
|
|
NM_004369.4(COL6A3):c.1533T>C (p.Ala511=)
|
rs2106370154
|
|
|
NM_004369.4(COL6A3):c.1537C>T (p.Arg513Trp)
|
rs369379463
|
|
|
NM_004369.4(COL6A3):c.1540A>G (p.Lys514Glu)
|
|
|
|
NM_004369.4(COL6A3):c.1548G>A (p.Lys516=)
|
|
|
|
NM_004369.4(COL6A3):c.1551C>G (p.Pro517=)
|
rs764955459
|
|
|
NM_004369.4(COL6A3):c.1560C>T (p.Gly520=)
|
rs2106370096
|
|
|
NM_004369.4(COL6A3):c.1568T>C (p.Leu523Pro)
|
|
|
|
NM_004369.4(COL6A3):c.1580C>G (p.Ser527Cys)
|
|
|
|
NM_004369.4(COL6A3):c.1582G>A (p.Ala528Thr)
|
|
|
|
NM_004369.4(COL6A3):c.1583C>G (p.Ala528Gly)
|
|
|
|
NM_004369.4(COL6A3):c.1587A>T (p.Leu529=)
|
rs574912582
|
|
|
NM_004369.4(COL6A3):c.1593T>C (p.Phe531=)
|
|
|
|
NM_004369.4(COL6A3):c.159A>G (p.Glu53=)
|
rs1259558140
|
|
|
NM_004369.4(COL6A3):c.1604A>T (p.Asn535Ile)
|
|
|
|
NM_004369.4(COL6A3):c.1616G>C (p.Ser539Thr)
|
|
|
|
NM_004369.4(COL6A3):c.161A>G (p.His54Arg)
|
|
|
|
NM_004369.4(COL6A3):c.1624G>C (p.Gly542Arg)
|
|
|
|
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp)
|
|
|
|
NM_004369.4(COL6A3):c.1631G>T (p.Arg544Leu)
|
|
|
|
NM_004369.4(COL6A3):c.1654C>T (p.Leu552Phe)
|
|
|
|
NM_004369.4(COL6A3):c.1656T>G (p.Leu552=)
|
rs141939225
|
|
|
NM_004369.4(COL6A3):c.1665G>T (p.Leu555=)
|
|
|
|
NM_004369.4(COL6A3):c.1688A>T (p.Asp563Val)
|
|
|
|
NM_004369.4(COL6A3):c.1689T>C (p.Asp563=)
|
rs1256532267
|
|
|
NM_004369.4(COL6A3):c.1699C>T (p.Gln567Ter)
|
rs1559261557
|
|
|
NM_004369.4(COL6A3):c.1699_1703del (p.Gln567fs)
|
|
|
|
NM_004369.4(COL6A3):c.169C>G (p.Leu57Val)
|
rs765665120
|
|
|
NM_004369.4(COL6A3):c.1705G>T (p.Ala569Ser)
|
|
|
|
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr)
|
rs1574725167
|
|
|
NM_004369.4(COL6A3):c.1740T>G (p.Phe580Leu)
|
rs1553562483
|
|
|
NM_004369.4(COL6A3):c.1755G>T (p.Lys585Asn)
|
|
|
|
NM_004369.4(COL6A3):c.176G>A (p.Arg59Gln)
|
|
|
|
NM_004369.4(COL6A3):c.1777G>A (p.Glu593Lys)
|
|
|
|
NM_004369.4(COL6A3):c.1780G>A (p.Glu594Lys)
|
|
|
|
NM_004369.4(COL6A3):c.1785C>G (p.Ile595Met)
|
rs114278376
|
|
|
NM_004369.4(COL6A3):c.1791C>A (p.Phe597Leu)
|
rs76576170
|
|
|
NM_004369.4(COL6A3):c.1795_1796delinsAT (p.Ser599Ile)
|
rs886043319
|
|
|
NM_004369.4(COL6A3):c.179_180del (p.Glu60fs)
|
|
|
|
NM_004369.4(COL6A3):c.1804G>T (p.Val602Leu)
|
rs2106369723
|
|
|
NM_004369.4(COL6A3):c.1816G>C (p.Ala606Pro)
|
|
|
|
NM_004369.4(COL6A3):c.181_182insAG (p.Phe61Ter)
|
|
|
|
NM_004369.4(COL6A3):c.1825C>A (p.Arg609=)
|
|
|
|
NM_004369.4(COL6A3):c.182T>C (p.Phe61Ser)
|
rs375649083
|
|
|
NM_004369.4(COL6A3):c.1830C>A (p.Ala610=)
|
rs756709812
|
|
|
NM_004369.4(COL6A3):c.1833C>A (p.Ala611=)
|
|
|
|
NM_004369.4(COL6A3):c.1839G>A (p.Leu613=)
|
|
|
|
NM_004369.4(COL6A3):c.183del (p.Leu62fs)
|
rs764524653
|
|
|
NM_004369.4(COL6A3):c.184C>T (p.Leu62=)
|
|
|
|
NM_004369.4(COL6A3):c.1886G>A (p.Gly629Glu)
|
|
|
|
NM_004369.4(COL6A3):c.188A>G (p.Tyr63Cys)
|
rs886043105
|
|
|
NM_004369.4(COL6A3):c.1897+16C>G
|
|
|
|
NM_004369.4(COL6A3):c.1898-10T>C
|
rs573663410
|
|
|
NM_004369.4(COL6A3):c.1898-17dup
|
rs750049890
|
|
|
NM_004369.4(COL6A3):c.1900C>T (p.His634Tyr)
|
rs769257731
|
|
|
NM_004369.4(COL6A3):c.1901A>G (p.His634Arg)
|
|
|
|
NM_004369.4(COL6A3):c.1908C>G (p.Asn636Lys)
|
|
|
|
NM_004369.4(COL6A3):c.1915G>A (p.Asp639Asn)
|
rs1181696188
|
|
|
NM_004369.4(COL6A3):c.191A>C (p.Asp64Ala)
|
rs768274647
|
|
|
NM_004369.4(COL6A3):c.1922T>C (p.Ile641Thr)
|
|
|
|
NM_004369.4(COL6A3):c.1940C>A (p.Ser647Ter)
|
rs2106367443
|
|
|
NM_004369.4(COL6A3):c.1947C>A (p.Asn649Lys)
|
|
|
|
NM_004369.4(COL6A3):c.1948G>A (p.Val650Ile)
|
rs149187225
|
|
|
NM_004369.4(COL6A3):c.1948G>T (p.Val650Phe)
|
|
|
|
NM_004369.4(COL6A3):c.1962T>C (p.Asn654=)
|
rs1574721263
|
|
|
NM_004369.4(COL6A3):c.1984G>A (p.Val662Ile)
|
|
|
|
NM_004369.4(COL6A3):c.1989G>C (p.Met663Ile)
|
|
|
|
NM_004369.4(COL6A3):c.2000A>G (p.Asn667Ser)
|
rs746265516
|
|
|
NM_004369.4(COL6A3):c.2002A>G (p.Ser668Gly)
|
|
|
|
NM_004369.4(COL6A3):c.2018A>G (p.Asn673Ser)
|
|
|
|
NM_004369.4(COL6A3):c.2029C>A (p.Arg677Ser)
|
|
|
|
NM_004369.4(COL6A3):c.202T>G (p.Ser68Ala)
|
|
|
|
NM_004369.4(COL6A3):c.2030G>T (p.Arg677Leu)
|
rs35227432
|
|
|
NM_004369.4(COL6A3):c.2036G>A (p.Gly679Asp)
|
rs1325552568
|
|
|
NM_004369.4(COL6A3):c.2042T>G (p.Val681Gly)
|
rs753741086
|
|
|
NM_004369.4(COL6A3):c.2047T>C (p.Phe683Leu)
|
|
|
|
NM_004369.4(COL6A3):c.2060C>T (p.Pro687Leu)
|
rs2106367262
|
|
|
NM_004369.4(COL6A3):c.2061T>A (p.Pro687=)
|
rs767818130
|
|
|
NM_004369.4(COL6A3):c.2066C>A (p.Thr689Lys)
|
|
|
|
NM_004369.4(COL6A3):c.2067G>A (p.Thr689=)
|
rs1372723004
|
|
|
NM_004369.4(COL6A3):c.2069A>G (p.Glu690Gly)
|
rs2106367237
|
|
|
NM_004369.4(COL6A3):c.2084C>T (p.Thr695Ile)
|
|
|
|
NM_004369.4(COL6A3):c.2099C>T (p.Ser700Leu)
|
|
|
|
NM_004369.4(COL6A3):c.2108T>G (p.Leu703Arg)
|
|
|
|
NM_004369.4(COL6A3):c.211G>A (p.Val71Met)
|
|
|
|
NM_004369.4(COL6A3):c.2128C>A (p.Gln710Lys)
|
rs2106367135
|
|
|
NM_004369.4(COL6A3):c.2131C>G (p.Leu711Val)
|
rs2106367128
|
|
|
NM_004369.4(COL6A3):c.2144C>G (p.Ser715Trp)
|
|
|
|
NM_004369.4(COL6A3):c.2145G>A (p.Ser715=)
|
rs375924639
|
|
|
NM_004369.4(COL6A3):c.2145G>C (p.Ser715=)
|
rs375924639
|
|
|
NM_004369.4(COL6A3):c.2145G>T (p.Ser715=)
|
rs375924639
|
|
|
NM_004369.4(COL6A3):c.217G>T (p.Glu73Ter)
|
|
|
|
NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser)
|
rs113393241
|
|
|
NM_004369.4(COL6A3):c.2180A>G (p.Tyr727Cys)
|
rs113393241
|
|
|
NM_004369.4(COL6A3):c.2183C>T (p.Ala728Val)
|
|
|
|
NM_004369.4(COL6A3):c.2184C>T (p.Ala728=)
|
|
|
|
NM_004369.4(COL6A3):c.2185A>G (p.Asn729Asp)
|
|
|
|
NM_004369.4(COL6A3):c.218A>G (p.Glu73Gly)
|
rs138570455
|
|
|
NM_004369.4(COL6A3):c.2193C>T (p.Phe731=)
|
|
|
|
NM_004369.4(COL6A3):c.2195C>A (p.Thr732Lys)
|
rs370719148
|
|
|
NM_004369.4(COL6A3):c.2214G>T (p.Arg738Ser)
|
rs1410013839
|
|
|
NM_004369.4(COL6A3):c.2217C>A (p.Ile739=)
|
|
|
|
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys)
|
rs147182340
|
|
|
NM_004369.4(COL6A3):c.2226C>A (p.His742Gln)
|
|
|
|
NM_004369.4(COL6A3):c.2226C>T (p.His742=)
|
rs376627571
|
|
|
NM_004369.4(COL6A3):c.2227G>A (p.Val743Met)
|
|
|
|
NM_004369.4(COL6A3):c.2241G>A (p.Leu747=)
|
rs766815447
|
|
|
NM_004369.4(COL6A3):c.2250del (p.Thr751fs)
|
|
|
|
NM_004369.4(COL6A3):c.2262G>A (p.Gln754=)
|
|
|
|
NM_004369.4(COL6A3):c.2276A>G (p.Tyr759Cys)
|
|
|
|
NM_004369.4(COL6A3):c.2287G>A (p.Ala763Thr)
|
|
|
|
NM_004369.4(COL6A3):c.2289C>T (p.Ala763=)
|
|
|
|
NM_004369.4(COL6A3):c.2292C>A (p.Asn764Lys)
|
|
|
|
NM_004369.4(COL6A3):c.2293G>A (p.Ala765Thr)
|
|
|
|
NM_004369.4(COL6A3):c.22C>G (p.Pro8Ala)
|
|
|
|
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly)
|
rs200722892
|
|
|
NM_004369.4(COL6A3):c.2303G>C (p.Arg768Pro)
|
|
|
|
NM_004369.4(COL6A3):c.2304C>T (p.Arg768=)
|
|
|
|
NM_004369.4(COL6A3):c.2316G>A (p.Leu772=)
|
rs2077920362
|
|
|
NM_004369.4(COL6A3):c.231T>C (p.His77=)
|
|
|
|
NM_004369.4(COL6A3):c.2353G>C (p.Glu785Gln)
|
rs776048975
|
|
|
NM_004369.4(COL6A3):c.2356C>T (p.Leu786Phe)
|
|
|
|
NM_004369.4(COL6A3):c.2365A>T (p.Ile789Phe)
|
|
|
|
NM_004369.4(COL6A3):c.2367del (p.Ile789fs)
|
rs2106366689
|
|
|
NM_004369.4(COL6A3):c.2374A>G (p.Asn792Asp)
|
rs1574719707
|
|
|
NM_004369.4(COL6A3):c.238C>G (p.Leu80Val)
|
rs777869450
|
|
|
NM_004369.4(COL6A3):c.2393T>C (p.Leu798Pro)
|
rs939675343
|
|
|
NM_004369.4(COL6A3):c.2395A>G (p.Met799Val)
|
rs1559257612
|
|
|
NM_004369.4(COL6A3):c.2407A>G (p.Ser803Gly)
|
|
|
|
NM_004369.4(COL6A3):c.2412C>T (p.Ser804=)
|
|
|
|
NM_004369.4(COL6A3):c.2416C>T (p.Pro806Ser)
|
rs1574719546
|
|
|
NM_004369.4(COL6A3):c.2422T>G (p.Leu808Val)
|
|
|
|
NM_004369.4(COL6A3):c.2431C>T (p.Gln811Ter)
|
rs1574719512
|
|
|
NM_004369.4(COL6A3):c.2452A>G (p.Thr818Ala)
|
rs2106366553
|
|
|
NM_004369.4(COL6A3):c.2457T>C (p.Tyr819=)
|
rs2106366549
|
|
|
NM_004369.4(COL6A3):c.245A>G (p.Gln82Arg)
|
|
|
|
NM_004369.4(COL6A3):c.2468G>T (p.Gly823Val)
|
|
|
|
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser)
|
rs77181645
|
|
|
NM_004369.4(COL6A3):c.2493G>A (p.Gln831=)
|
rs988131438
|
|
|
NM_004369.4(COL6A3):c.2495C>T (p.Pro832Leu)
|
|
|
|
NM_004369.4(COL6A3):c.2497+17G>T
|
|
|
|
NM_004369.4(COL6A3):c.2497+20G>A
|
|
|
|
NM_004369.4(COL6A3):c.2497+3A>T
|
|
|
|
NM_004369.4(COL6A3):c.2497+4_2497+9del
|
|
|
|
NM_004369.4(COL6A3):c.2497+7C>A
|
rs2077913887
|
|
|
NM_004369.4(COL6A3):c.2497+8T>C
|
rs2106366476
|
|
|
NM_004369.4(COL6A3):c.2497+9C>T
|
rs774198344
|
|
|
NM_004369.4(COL6A3):c.2498-15del
|
|
|
|
NM_004369.4(COL6A3):c.2501G>A (p.Ser834Asn)
|
|
|
|
NM_004369.4(COL6A3):c.2502C>G (p.Ser834Arg)
|
rs767437328
|
|
|
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)
|
rs761796175
|
|
|
NM_004369.4(COL6A3):c.2517G>A (p.Leu839=)
|
rs187237497
|
|
|
NM_004369.4(COL6A3):c.2517G>C (p.Leu839=)
|
|
|
|
NM_004369.4(COL6A3):c.251A>G (p.Asn84Ser)
|
|
|
|
NM_004369.4(COL6A3):c.2533T>A (p.Ser845Thr)
|
|
|
|
NM_004369.4(COL6A3):c.2546T>A (p.Val849Glu)
|
rs1574716769
|
|
|
NM_004369.4(COL6A3):c.2570A>G (p.Asp857Gly)
|
rs2077873907
|
|
|
NM_004369.4(COL6A3):c.2575C>G (p.Leu859Val)
|
rs570233756
|
|
|
NM_004369.4(COL6A3):c.2575C>T (p.Leu859Phe)
|
|
|
|
NM_004369.4(COL6A3):c.2579A>G (p.Tyr860Cys)
|
rs2106364778
|
|
|
NM_004369.4(COL6A3):c.2595G>A (p.Glu865=)
|
|
|
|
NM_004369.4(COL6A3):c.2596C>T (p.Leu866Phe)
|
|
|
|
NM_004369.4(COL6A3):c.2604G>A (p.Val868=)
|
|
|
|
NM_004369.4(COL6A3):c.2605A>C (p.Lys869Gln)
|
|
|
|
NM_004369.4(COL6A3):c.2608C>T (p.Pro870Ser)
|
|
|
|
NM_004369.4(COL6A3):c.2612A>G (p.Glu871Gly)
|
|
|
|
NM_004369.4(COL6A3):c.2613G>A (p.Glu871=)
|
rs1559255553
|
|
|
NM_004369.4(COL6A3):c.2620C>T (p.Arg874Ter)
|
rs1553561409
|
|
|
NM_004369.4(COL6A3):c.2621G>A (p.Arg874Gln)
|
|
|
|
NM_004369.4(COL6A3):c.2644G>A (p.Asp882Asn)
|
|
|
|
NM_004369.4(COL6A3):c.2644G>T (p.Asp882Tyr)
|
|
|
|
NM_004369.4(COL6A3):c.2663C>G (p.Ser888Cys)
|
rs780855121
|
|
|
NM_004369.4(COL6A3):c.2671G>C (p.Asp891His)
|
|
|
|
NM_004369.4(COL6A3):c.2685T>G (p.Ser895Arg)
|
|
|
|
NM_004369.4(COL6A3):c.2688G>A (p.Lys896=)
|
rs2106364617
|
|
|
NM_004369.4(COL6A3):c.2698C>G (p.Leu900Val)
|
rs2077868769
|
|
|
NM_004369.4(COL6A3):c.2707G>A (p.Val903Met)
|
rs890279367
|
|
|
NM_004369.4(COL6A3):c.2724C>G (p.Ile908Met)
|
|
|
|
NM_004369.4(COL6A3):c.2729C>A (p.Thr910Lys)
|
rs189356869
|
|
|
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met)
|
rs189356869
|
|
|
NM_004369.4(COL6A3):c.2739C>A (p.Ala913=)
|
|
|
|
NM_004369.4(COL6A3):c.2739C>T (p.Ala913=)
|
|
|
|
NM_004369.4(COL6A3):c.2750G>A (p.Gly917Asp)
|
rs2106364518
|
|
|
NM_004369.4(COL6A3):c.2751C>T (p.Gly917=)
|
|
|
|
NM_004369.4(COL6A3):c.275T>C (p.Leu92Pro)
|
|
|
|
NM_004369.4(COL6A3):c.2766T>C (p.Tyr922=)
|
|
|
|
NM_004369.4(COL6A3):c.2774G>T (p.Arg925Met)
|
|
|
|
NM_004369.4(COL6A3):c.2777A>G (p.Tyr926Cys)
|
|
|
|
NM_004369.4(COL6A3):c.2790G>A (p.Lys930=)
|
|
|
|
NM_004369.4(COL6A3):c.2794G>C (p.Ala932Pro)
|
|
|
|
NM_004369.4(COL6A3):c.2808C>A (p.Ile936=)
|
rs116256579
|
|
|
NM_004369.4(COL6A3):c.2809G>A (p.Glu937Lys)
|
rs774872934
|
|
|
NM_004369.4(COL6A3):c.2826G>A (p.Gln942=)
|
|
|
|
NM_004369.4(COL6A3):c.2835G>A (p.Val945=)
|
|
|
|
NM_004369.4(COL6A3):c.2844C>T (p.Val948=)
|
|
|
|
NM_004369.4(COL6A3):c.2862C>T (p.Asp954=)
|
|
|
|
NM_004369.4(COL6A3):c.2863C>T (p.Arg955Cys)
|
rs886043736
|
|
|
NM_004369.4(COL6A3):c.2879C>G (p.Ala960Gly)
|
rs543253703
|
|
|
NM_004369.4(COL6A3):c.2897G>T (p.Ser966Ile)
|
|
|
|
NM_004369.4(COL6A3):c.2899G>A (p.Gly967Arg)
|
|
|
|
NM_004369.4(COL6A3):c.2908C>G (p.Pro970Ala)
|
rs1226873582
|
|
|
NM_004369.4(COL6A3):c.2926A>C (p.Lys976Gln)
|
|
|
|
NM_004369.4(COL6A3):c.292A>G (p.Thr98Ala)
|
|
|
|
NM_004369.4(COL6A3):c.2932G>T (p.Ala978Ser)
|
rs768292803
|
|
|
NM_004369.4(COL6A3):c.2937C>A (p.Asp979Glu)
|
rs763515820
|
|
|
NM_004369.4(COL6A3):c.2945A>C (p.Glu982Ala)
|
rs2077857997
|
|
|
NM_004369.4(COL6A3):c.2951A>G (p.Glu984Gly)
|
|
|
|
NM_004369.4(COL6A3):c.2958C>G (p.Ile986Met)
|
rs145203676
|
|
|
NM_004369.4(COL6A3):c.295A>G (p.Lys99Glu)
|
|
|
|
NM_004369.4(COL6A3):c.2978T>C (p.Ile993Thr)
|
rs2077856364
|
|
|
NM_004369.4(COL6A3):c.2980C>T (p.Leu994=)
|
|
|
|
NM_004369.4(COL6A3):c.3002A>G (p.Lys1001Arg)
|
|
|
|
NM_004369.4(COL6A3):c.3009A>T (p.Gly1003=)
|
rs769667715
|
|
|
NM_004369.4(COL6A3):c.3010G>A (p.Asp1004Asn)
|
rs2106364042
|
|
|
NM_004369.4(COL6A3):c.3011A>T (p.Asp1004Val)
|
rs1194314017
|
|
|
NM_004369.4(COL6A3):c.3021A>T (p.Pro1007=)
|
|
|
|
NM_004369.4(COL6A3):c.3026T>G (p.Ile1009Arg)
|
|
|
|
NM_004369.4(COL6A3):c.3040A>C (p.Lys1014Gln)
|
rs114284669
|
|
|
NM_004369.4(COL6A3):c.3042A>G (p.Lys1014=)
|
rs915245460
|
|
|
NM_004369.4(COL6A3):c.3044C>T (p.Ser1015Leu)
|
rs2077853056
|
|
|
NM_004369.4(COL6A3):c.3045A>G (p.Ser1015=)
|
rs886042836
|
|
|
NM_004369.4(COL6A3):c.3051C>G (p.His1017Gln)
|
|
|
|
NM_004369.4(COL6A3):c.3061C>T (p.Pro1021Ser)
|
rs2077852366
|
|
|
NM_004369.4(COL6A3):c.3071-11C>T
|
|
|
|
NM_004369.4(COL6A3):c.3071-13G>C
|
|
|
|
NM_004369.4(COL6A3):c.3071-1G>A
|
|
|
|
NM_004369.4(COL6A3):c.3071-6T>C
|
|
|
|
NM_004369.4(COL6A3):c.3071-7C>T
|
rs370229367
|
|
|
NM_004369.4(COL6A3):c.3074C>T (p.Ser1025Leu)
|
|
|
|
NM_004369.4(COL6A3):c.3091G>C (p.Val1031Leu)
|
|
|
|
NM_004369.4(COL6A3):c.3105T>C (p.Asp1035=)
|
rs2077798088
|
|
|
NM_004369.4(COL6A3):c.3106G>A (p.Gly1036Ser)
|
|
|
|
NM_004369.4(COL6A3):c.3108C>T (p.Gly1036=)
|
|
|
|
NM_004369.4(COL6A3):c.3109T>C (p.Ser1037Pro)
|
|
|
|
NM_004369.4(COL6A3):c.3110C>G (p.Ser1037Cys)
|
rs2106361725
|
|
|
NM_004369.4(COL6A3):c.3112G>A (p.Glu1038Lys)
|
|
|
|
NM_004369.4(COL6A3):c.3132C>T (p.Phe1044=)
|
|
|
|
NM_004369.4(COL6A3):c.3135T>G (p.Pro1045=)
|
rs2106361675
|
|
|
NM_004369.4(COL6A3):c.3138G>T (p.Leu1046=)
|
rs780402445
|
|
|
NM_004369.4(COL6A3):c.3147G>T (p.Glu1049Asp)
|
|
|
|
NM_004369.4(COL6A3):c.3162G>A (p.Val1054=)
|
|
|
|
NM_004369.4(COL6A3):c.3164T>A (p.Val1055Glu)
|
rs532449385
|
|
|
NM_004369.4(COL6A3):c.3165G>A (p.Val1055=)
|
|
|
|
NM_004369.4(COL6A3):c.3169A>T (p.Ser1057Cys)
|
rs1553560705
|
|
|
NM_004369.4(COL6A3):c.3171C>A (p.Ser1057Arg)
|
|
|
|
NM_004369.4(COL6A3):c.3188A>C (p.Asp1063Ala)
|
rs1238550268
|
|
|
NM_004369.4(COL6A3):c.3189C>T (p.Asp1063=)
|
|
|
|
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met)
|
rs148175795
|
|
|
NM_004369.4(COL6A3):c.3223C>A (p.Arg1075=)
|
rs201962257
|
|
|
NM_004369.4(COL6A3):c.3231G>A (p.Arg1077=)
|
|
|
|
NM_004369.4(COL6A3):c.3235G>A (p.Glu1079Lys)
|
rs762778512
|
|
|
NM_004369.4(COL6A3):c.3252A>G (p.Ser1084=)
|
|
|
|
NM_004369.4(COL6A3):c.3261C>T (p.Asn1087=)
|
|
|
|
NM_004369.4(COL6A3):c.3273C>A (p.Val1091=)
|
rs200562443
|
|
|
NM_004369.4(COL6A3):c.3274G>C (p.Val1092Leu)
|
|
|
|
NM_004369.4(COL6A3):c.3275T>C (p.Val1092Ala)
|
|
|
|
NM_004369.4(COL6A3):c.3280G>T (p.Ala1094Ser)
|
rs369460632
|
|
|
NM_004369.4(COL6A3):c.3286C>G (p.Arg1096Gly)
|
|
|
|
NM_004369.4(COL6A3):c.3298C>G (p.Leu1100Val)
|
|
|
|
NM_004369.4(COL6A3):c.32C>T (p.Ala11Val)
|
|
|
|
NM_004369.4(COL6A3):c.3304G>A (p.Gly1102Arg)
|
rs2106361380
|
|
|
NM_004369.4(COL6A3):c.3312G>A (p.Pro1104=)
|
|
|
|
NM_004369.4(COL6A3):c.3314C>T (p.Thr1105Ile)
|
|
|
|
NM_004369.4(COL6A3):c.3320A>T (p.Asn1107Ile)
|
|
|
|
NM_004369.4(COL6A3):c.3325G>A (p.Gly1109Arg)
|
rs752924311
|
|
|
NM_004369.4(COL6A3):c.3328G>A (p.Ala1110Thr)
|
|
|
|
NM_004369.4(COL6A3):c.3336G>A (p.Leu1112=)
|
rs1553560545
|
|
|
NM_004369.4(COL6A3):c.3347T>C (p.Leu1116Pro)
|
|
|
|
NM_004369.4(COL6A3):c.3354C>T (p.Asn1118=)
|
|
|
|
NM_004369.4(COL6A3):c.3357C>G (p.Ile1119Met)
|
rs1574709919
|
|
|
NM_004369.4(COL6A3):c.3365G>A (p.Ser1122Asn)
|
|
|
|
NM_004369.4(COL6A3):c.3371C>A (p.Ala1124Glu)
|
|
|
|
NM_004369.4(COL6A3):c.3372G>A (p.Ala1124=)
|
rs772443564
|
|
|
NM_004369.4(COL6A3):c.3373G>A (p.Gly1125Arg)
|
rs2106361269
|
|
|
NM_004369.4(COL6A3):c.3382A>G (p.Ile1128Val)
|
rs372844024
|
|
|
NM_004369.4(COL6A3):c.3387A>T (p.Thr1129=)
|
|
|
|
NM_004369.4(COL6A3):c.3391G>A (p.Gly1131Ser)
|
rs2077786156
|
|
|
NM_004369.4(COL6A3):c.33C>T (p.Ala11=)
|
rs761011715
|
|
|
NM_004369.4(COL6A3):c.3400C>T (p.Gln1134Ter)
|
rs2106361236
|
|
|
NM_004369.4(COL6A3):c.3403C>G (p.Leu1135Val)
|
rs2077785980
|
|
|
NM_004369.4(COL6A3):c.3411C>G (p.Ile1137Met)
|
|
|
|
NM_004369.4(COL6A3):c.3412G>A (p.Val1138Ile)
|
rs199964760
|
|
|
NM_004369.4(COL6A3):c.3429G>C (p.Arg1143Ser)
|
|
|
|
NM_004369.4(COL6A3):c.343A>G (p.Thr115Ala)
|
rs2106388440
|
|
|
NM_004369.4(COL6A3):c.3441T>C (p.Asp1147=)
|
|
|
|
NM_004369.4(COL6A3):c.3454T>A (p.Ser1152Thr)
|
rs2106361118
|
|
|
NM_004369.4(COL6A3):c.3475G>A (p.Gly1159Arg)
|
|
|
|
NM_004369.4(COL6A3):c.3479C>T (p.Ala1160Val)
|
|
|
|
NM_004369.4(COL6A3):c.347A>G (p.Asn116Ser)
|
|
|
|
NM_004369.4(COL6A3):c.3483G>T (p.Val1161=)
|
|
|
|
NM_004369.4(COL6A3):c.348T>A (p.Asn116Lys)
|
rs2106388428
|
|
|
NM_004369.4(COL6A3):c.3495T>A (p.Ile1165=)
|
|
|
|
NM_004369.4(COL6A3):c.3498C>A (p.Gly1166=)
|
rs1553560457
|
|
|
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe)
|
rs886042996
|
|
|
NM_004369.4(COL6A3):c.3501C>G (p.Ile1167Met)
|
|
|
|
NM_004369.4(COL6A3):c.3504dup (p.Asn1169fs)
|
|
|
|
NM_004369.4(COL6A3):c.3525G>A (p.Met1175Ile)
|
|
|
|
NM_004369.4(COL6A3):c.3530C>T (p.Thr1177Ile)
|
rs2077780771
|
|
|
NM_004369.4(COL6A3):c.3542T>G (p.Ile1181Ser)
|
rs920105033
|
|
|
NM_004369.4(COL6A3):c.3543C>T (p.Ile1181=)
|
|
|
|
NM_004369.4(COL6A3):c.3565C>T (p.Pro1189Ser)
|
|
|
|
NM_004369.4(COL6A3):c.3566C>A (p.Pro1189His)
|
|
|
|
NM_004369.4(COL6A3):c.3582G>A (p.Leu1194=)
|
|
|
|
NM_004369.4(COL6A3):c.3584G>A (p.Gly1195Glu)
|
|
|
|
NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile)
|
rs748053172
|
|
|
NM_004369.4(COL6A3):c.3600C>T (p.Val1200=)
|
rs768543487
|
|
|
NM_004369.4(COL6A3):c.3605C>A (p.Ser1202Tyr)
|
rs2106360836
|
|
|
NM_004369.4(COL6A3):c.3611G>C (p.Arg1204Thr)
|
|
|
|
NM_004369.4(COL6A3):c.362G>T (p.Gly121Val)
|
|
|
|
NM_004369.4(COL6A3):c.3631G>A (p.Glu1211Lys)
|
rs2077777129
|
|
|
NM_004369.4(COL6A3):c.3648G>A (p.Leu1216=)
|
|
|
|
NM_004369.4(COL6A3):c.3651G>A (p.Gln1217=)
|
rs115065877
|
|
|
NM_004369.4(COL6A3):c.3664C>T (p.Pro1222Ser)
|
rs1553560314
|
|
|
NM_004369.4(COL6A3):c.3666T>C (p.Pro1222=)
|
|
|
|
NM_004369.4(COL6A3):c.3672G>A (p.Pro1224=)
|
rs547052866
|
|
|
NM_004369.4(COL6A3):c.3679+10G>A
|
|
|
|
NM_004369.4(COL6A3):c.3679+13C>T
|
|
|
|
NM_004369.4(COL6A3):c.3679+14T>G
|
|
|
|
NM_004369.4(COL6A3):c.3679+17_3679+18del
|
rs759774701
|
|
|
NM_004369.4(COL6A3):c.3679+5G>A
|
|
|
|
NM_004369.4(COL6A3):c.3679+9G>A
|
|
|
|
NM_004369.4(COL6A3):c.3680-14C>G
|
|
|
|
NM_004369.4(COL6A3):c.3680-18C>T
|
|
|
|
NM_004369.4(COL6A3):c.3696G>T (p.Arg1232Ser)
|
|
|
|
NM_004369.4(COL6A3):c.3709C>G (p.Leu1237Val)
|
|
|
|
NM_004369.4(COL6A3):c.3710T>G (p.Leu1237Arg)
|
|
|
|
NM_004369.4(COL6A3):c.3716A>G (p.Asp1239Gly)
|
rs1190794379
|
|
|
NM_004369.4(COL6A3):c.3720G>A (p.Gly1240=)
|
|
|
|
NM_004369.4(COL6A3):c.3725A>C (p.Gln1242Pro)
|
rs1553559646
|
|
|
NM_004369.4(COL6A3):c.373A>T (p.Ile125Leu)
|
rs368077444
|
|
|
NM_004369.4(COL6A3):c.3741G>A (p.Glu1247=)
|
rs577927810
|
|
|
NM_004369.4(COL6A3):c.3741G>T (p.Glu1247Asp)
|
|
|
|
NM_004369.4(COL6A3):c.3747G>C (p.Gln1249His)
|
|
|
|
NM_004369.4(COL6A3):c.3751G>T (p.Val1251Phe)
|
rs199646208
|
|
|
NM_004369.4(COL6A3):c.3758C>A (p.Thr1253Asn)
|
|
|
|
NM_004369.4(COL6A3):c.3760C>T (p.Leu1254Phe)
|
rs886044373
|
|
|
NM_004369.4(COL6A3):c.3764T>C (p.Ile1255Thr)
|
|
|
|
NM_004369.4(COL6A3):c.3768G>C (p.Glu1256Asp)
|
|
|
|
NM_004369.4(COL6A3):c.3778G>T (p.Asp1260Tyr)
|
|
|
|
NM_004369.4(COL6A3):c.3779A>G (p.Asp1260Gly)
|
rs773456951
|
|
|
NM_004369.4(COL6A3):c.3787G>A (p.Asp1263Asn)
|
|
|
|
NM_004369.4(COL6A3):c.3795C>A (p.Gly1265=)
|
rs886055808
|
|
|
NM_004369.4(COL6A3):c.3823C>G (p.Gln1275Glu)
|
rs2077710026
|
|
|
NM_004369.4(COL6A3):c.3832G>A (p.Asp1278Asn)
|
rs752309834
|
|
|
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met)
|
rs535661345
|
|
|
NM_004369.4(COL6A3):c.384C>T (p.Ser128=)
|
|
|
|
NM_004369.4(COL6A3):c.3850T>A (p.Phe1284Ile)
|
rs2077709263
|
|
|
NM_004369.4(COL6A3):c.3852C>A (p.Phe1284Leu)
|
rs148561729
|
|
|
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=)
|
rs148561729
|
|
|
NM_004369.4(COL6A3):c.386A>G (p.His129Arg)
|
|
|
|
NM_004369.4(COL6A3):c.3872G>A (p.Ser1291Asn)
|
|
|
|
NM_004369.4(COL6A3):c.3873C>G (p.Ser1291Arg)
|
|
|
|
NM_004369.4(COL6A3):c.3873C>T (p.Ser1291=)
|
|
|
|
NM_004369.4(COL6A3):c.3885G>A (p.Val1295=)
|
rs2077708134
|
|
|
NM_004369.4(COL6A3):c.3892G>A (p.Ala1298Thr)
|
|
|
|
NM_004369.4(COL6A3):c.3895G>A (p.Val1299Met)
|
rs899539198
|
|
|
NM_004369.4(COL6A3):c.3909G>A (p.Arg1303=)
|
|
|
|
NM_004369.4(COL6A3):c.3911C>T (p.Pro1304Leu)
|
|
|
|
NM_004369.4(COL6A3):c.3913A>G (p.Lys1305Glu)
|
|
|
|
NM_004369.4(COL6A3):c.3922C>T (p.Arg1308Trp)
|
rs140330124
|
|
|
NM_004369.4(COL6A3):c.3945C>T (p.Ala1315=)
|
rs2106357314
|
|
|
NM_004369.4(COL6A3):c.3955G>A (p.Val1319Met)
|
|
|
|
NM_004369.4(COL6A3):c.3963G>A (p.Arg1321=)
|
|
|
|
NM_004369.4(COL6A3):c.3981C>A (p.Pro1327=)
|
rs2106357258
|
|
|
NM_004369.4(COL6A3):c.3989G>T (p.Ser1330Ile)
|
rs779967310
|
|
|
NM_004369.4(COL6A3):c.3991C>A (p.Arg1331Ser)
|
rs750341446
|
|
|
NM_004369.4(COL6A3):c.3991C>T (p.Arg1331Cys)
|
rs750341446
|
|
|
NM_004369.4(COL6A3):c.399del (p.Ala134fs)
|
rs2106388332
|
|
|
NM_004369.4(COL6A3):c.4004G>C (p.Gly1335Ala)
|
|
|
|
NM_004369.4(COL6A3):c.400G>A (p.Ala134Thr)
|
|
|
|
NM_004369.4(COL6A3):c.4010C>T (p.Pro1337Leu)
|
|
|
|
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=)
|
rs114498197
|
|
|
NM_004369.4(COL6A3):c.4011G>T (p.Pro1337=)
|
rs114498197
|
|
|
NM_004369.4(COL6A3):c.4041G>A (p.Lys1347=)
|
|
|
|
NM_004369.4(COL6A3):c.4041G>T (p.Lys1347Asn)
|
rs781033908
|
|
|
NM_004369.4(COL6A3):c.4042T>C (p.Ser1348Pro)
|
|
|
|
NM_004369.4(COL6A3):c.4049A>G (p.Asp1350Gly)
|
|
|
|
NM_004369.4(COL6A3):c.4056G>A (p.Val1352=)
|
|
|
|
NM_004369.4(COL6A3):c.4060G>A (p.Asp1354Asn)
|
|
|
|
NM_004369.4(COL6A3):c.4060G>C (p.Asp1354His)
|
|
|
|
NM_004369.4(COL6A3):c.4067C>T (p.Ala1356Val)
|
|
|
|
NM_004369.4(COL6A3):c.4075C>A (p.Leu1359Ile)
|
rs2077700902
|
|
|
NM_004369.4(COL6A3):c.4083G>T (p.Gln1361His)
|
rs2106357056
|
|
|
NM_004369.4(COL6A3):c.4089C>T (p.Gly1363=)
|
|
|
|
NM_004369.4(COL6A3):c.4093G>A (p.Ala1365Thr)
|
rs1460462771
|
|
|
NM_004369.4(COL6A3):c.4094C>T (p.Ala1365Val)
|
|
|
|
NM_004369.4(COL6A3):c.4095C>G (p.Ala1365=)
|
rs2106357035
|
|
|
NM_004369.4(COL6A3):c.4108G>A (p.Ala1370Thr)
|
rs372234605
|
|
|
NM_004369.4(COL6A3):c.4108G>T (p.Ala1370Ser)
|
rs372234605
|
|
|
NM_004369.4(COL6A3):c.4110C>T (p.Ala1370=)
|
rs1553559241
|
|
|
NM_004369.4(COL6A3):c.4113G>A (p.Arg1371=)
|
|
|
|
NM_004369.4(COL6A3):c.4113G>C (p.Arg1371Ser)
|
|
|
|
NM_004369.4(COL6A3):c.4122C>T (p.Asp1374=)
|
rs2106356973
|
|
|
NM_004369.4(COL6A3):c.4124del (p.Gln1375fs)
|
rs886042447
|
|
|
NM_004369.4(COL6A3):c.4149G>A (p.Leu1383=)
|
|
|
|
NM_004369.4(COL6A3):c.4150A>G (p.Ser1384Gly)
|
|
|
|
NM_004369.4(COL6A3):c.4152C>T (p.Ser1384=)
|
rs2077697254
|
|
|
NM_004369.4(COL6A3):c.4163T>C (p.Val1388Ala)
|
|
|
|
NM_004369.4(COL6A3):c.4164G>A (p.Val1388=)
|
|
|
|
NM_004369.4(COL6A3):c.416G>A (p.Gly139Asp)
|
rs780669785
|
|
|
NM_004369.4(COL6A3):c.4188G>A (p.Glu1396=)
|
rs2077695533
|
|
|
NM_004369.4(COL6A3):c.4218G>A (p.Thr1406=)
|
|
|
|
NM_004369.4(COL6A3):c.4234A>T (p.Thr1412Ser)
|
rs764522621
|
|
|
NM_004369.4(COL6A3):c.4239A>G (p.Ser1413=)
|
rs759052298
|
|
|
NM_004369.4(COL6A3):c.4252A>G (p.Lys1418Glu)
|
rs1367588379
|
|
|
NM_004369.4(COL6A3):c.4252_4254del (p.Lys1418del)
|
rs886043395
|
|
|
NM_004369.4(COL6A3):c.4253A>G (p.Lys1418Arg)
|
|
|
|
NM_004369.4(COL6A3):c.4255C>T (p.Leu1419Phe)
|
|
|
|
NM_004369.4(COL6A3):c.4259T>C (p.Leu1420Ser)
|
|
|
|
NM_004369.4(COL6A3):c.4265G>A (p.Ser1422Asn)
|
|
|
|
NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)
|
|
|
|
NM_004369.4(COL6A3):c.4285+12G>T
|
rs1295105927
|
|
|
NM_004369.4(COL6A3):c.4285+16C>T
|
|
|
|
NM_004369.4(COL6A3):c.4285+3G>A
|
|
|
|
NM_004369.4(COL6A3):c.4286-2A>C
|
|
|
|
NM_004369.4(COL6A3):c.4286-2A>G
|
rs761453030
|
|
|
NM_004369.4(COL6A3):c.4286-7T>G
|
|
|
|
NM_004369.4(COL6A3):c.4290T>C (p.Val1430=)
|
rs2077626622
|
|
|
NM_004369.4(COL6A3):c.4296T>A (p.Ser1432Arg)
|
rs2077626425
|
|
|
NM_004369.4(COL6A3):c.4308C>G (p.Asp1436Glu)
|
rs775286217
|
|
|
NM_004369.4(COL6A3):c.4309A>C (p.Ile1437Leu)
|
rs144314743
|
|
|
NM_004369.4(COL6A3):c.4310T>C (p.Ile1437Thr)
|
rs2106353352
|
|
|
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=)
|
rs2646260
|
|
|
NM_004369.4(COL6A3):c.4311T>G (p.Ile1437Met)
|
rs2646260
|
|
|
NM_004369.4(COL6A3):c.4311_4312inv (p.Val1438Ile)
|
|
|
|
NM_004369.4(COL6A3):c.4312G>T (p.Val1438Phe)
|
|
|
|
NM_004369.4(COL6A3):c.4313T>C (p.Val1438Ala)
|
|
|
|
NM_004369.4(COL6A3):c.4314C>T (p.Val1438=)
|
|
|
|
NM_004369.4(COL6A3):c.4324G>A (p.Asp1442Asn)
|
rs772700553
|
|
|
NM_004369.4(COL6A3):c.4332T>C (p.Ser1444=)
|
|
|
|
NM_004369.4(COL6A3):c.4363A>G (p.Ile1455Val)
|
rs2077624929
|
|
|
NM_004369.4(COL6A3):c.4367G>A (p.Arg1456Gln)
|
rs2077624807
|
|
|
NM_004369.4(COL6A3):c.4382G>A (p.Arg1461Lys)
|
rs2077624444
|
|
|
NM_004369.4(COL6A3):c.4389T>G (p.Val1463=)
|
rs2106353277
|
|
|
NM_004369.4(COL6A3):c.4390C>G (p.Arg1464Gly)
|
|
|
|
NM_004369.4(COL6A3):c.4390C>T (p.Arg1464Ter)
|
rs912671116
|
|
|
NM_004369.4(COL6A3):c.4391G>A (p.Arg1464Gln)
|
|
|
|
NM_004369.4(COL6A3):c.439G>C (p.Val147Leu)
|
|
|
|
NM_004369.4(COL6A3):c.4405G>A (p.Gly1469Ser)
|
rs771199614
|
|
|
NM_004369.4(COL6A3):c.4407C>A (p.Gly1469=)
|
|
|
|
NM_004369.4(COL6A3):c.4409C>A (p.Pro1470His)
|
rs2077623565
|
|
|
NM_004369.4(COL6A3):c.4415A>T (p.Lys1472Ile)
|
|
|
|
NM_004369.4(COL6A3):c.4417_4418delinsAA (p.Val1473Lys)
|
rs2106353213
|
|
|
NM_004369.4(COL6A3):c.4424T>C (p.Val1475Ala)
|
rs1216842831
|
|
|
NM_004369.4(COL6A3):c.4427_4434del (p.Gly1476fs)
|
|
|
|
NM_004369.4(COL6A3):c.443T>C (p.Val148Ala)
|
|
|
|
NM_004369.4(COL6A3):c.4443C>G (p.Ser1481Arg)
|
rs2106353172
|
|
|
NM_004369.4(COL6A3):c.4445A>G (p.Asn1482Ser)
|
rs2077622262
|
|
|
NM_004369.4(COL6A3):c.4445A>T (p.Asn1482Ile)
|
rs2077622262
|
|
|
NM_004369.4(COL6A3):c.4447G>A (p.Asp1483Asn)
|
|
|
|
NM_004369.4(COL6A3):c.4457C>A (p.Pro1486Gln)
|
|
|
|
NM_004369.4(COL6A3):c.4470G>A (p.Leu1490=)
|
|
|
|
NM_004369.4(COL6A3):c.4476C>G (p.Thr1492=)
|
|
|
|
NM_004369.4(COL6A3):c.4488G>A (p.Gln1496=)
|
rs369543806
|
|
|
NM_004369.4(COL6A3):c.4493C>T (p.Pro1498Leu)
|
|
|
|
NM_004369.4(COL6A3):c.4503C>A (p.Asp1501Glu)
|
rs115551245
|
|
|
NM_004369.4(COL6A3):c.4505C>A (p.Ala1502Asp)
|
rs2106353091
|
|
|
NM_004369.4(COL6A3):c.4505C>T (p.Ala1502Val)
|
|
|
|
NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=)
|
rs144223596
|
|
|
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp)
|
rs144223596
|
|
|
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu)
|
rs754840728
|
|
|
NM_004369.4(COL6A3):c.4520G>A (p.Arg1507Lys)
|
rs766158387
|
|
|
NM_004369.4(COL6A3):c.4520G>T (p.Arg1507Met)
|
rs766158387
|
|
|
NM_004369.4(COL6A3):c.4521G>A (p.Arg1507=)
|
|
|
|
NM_004369.4(COL6A3):c.4528G>A (p.Gly1510Arg)
|
rs1293450770
|
|
|
NM_004369.4(COL6A3):c.4529G>C (p.Gly1510Ala)
|
|
|
|
NM_004369.4(COL6A3):c.4533del (p.Ser1512fs)
|
|
|
|
NM_004369.4(COL6A3):c.4534T>A (p.Ser1512Thr)
|
rs1553557796
|
|
|
NM_004369.4(COL6A3):c.4535C>T (p.Ser1512Phe)
|
rs1370846981
|
|
|
NM_004369.4(COL6A3):c.4539A>G (p.Pro1513=)
|
rs1574695218
|
|
|
NM_004369.4(COL6A3):c.4548T>C (p.Thr1516=)
|
rs2106352992
|
|
|
NM_004369.4(COL6A3):c.4549G>A (p.Gly1517Ser)
|
|
|
|
NM_004369.4(COL6A3):c.4555G>A (p.Ala1519Thr)
|
rs2077618678
|
|
|
NM_004369.4(COL6A3):c.4556C>A (p.Ala1519Asp)
|
|
|
|
NM_004369.4(COL6A3):c.4565T>C (p.Phe1522Ser)
|
|
|
|
NM_004369.4(COL6A3):c.4568T>C (p.Val1523Ala)
|
|
|
|
NM_004369.4(COL6A3):c.4577A>G (p.Asn1526Ser)
|
|
|
|
NM_004369.4(COL6A3):c.4581C>T (p.Leu1527=)
|
rs1223820832
|
|
|
NM_004369.4(COL6A3):c.45C>G (p.Leu15=)
|
|
|
|
NM_004369.4(COL6A3):c.4603C>A (p.Arg1535Ser)
|
|
|
|
NM_004369.4(COL6A3):c.460T>A (p.Ser154Thr)
|
rs1559279425
|
|
|
NM_004369.4(COL6A3):c.4613A>C (p.Asp1538Ala)
|
|
|
|
NM_004369.4(COL6A3):c.4615G>A (p.Gly1539Arg)
|
|
|
|
NM_004369.4(COL6A3):c.461C>G (p.Ser154Trp)
|
|
|
|
NM_004369.4(COL6A3):c.462G>T (p.Ser154=)
|
|
|
|
NM_004369.4(COL6A3):c.4635C>T (p.Val1545=)
|
|
|
|
NM_004369.4(COL6A3):c.4644G>A (p.Leu1548=)
|
rs1017491163
|
|
|
NM_004369.4(COL6A3):c.4647T>A (p.Gly1549=)
|
|
|
|
NM_004369.4(COL6A3):c.4667T>A (p.Val1556Glu)
|
rs375207869
|
|
|
NM_004369.4(COL6A3):c.4668G>A (p.Val1556=)
|
|
|
|
NM_004369.4(COL6A3):c.4678G>A (p.Ala1560Thr)
|
rs371631320
|
|
|
NM_004369.4(COL6A3):c.4678G>T (p.Ala1560Ser)
|
|
|
|
NM_004369.4(COL6A3):c.4684G>T (p.Val1562Leu)
|
rs1553557605
|
|
|
NM_004369.4(COL6A3):c.4688T>C (p.Ile1563Thr)
|
|
|
|
NM_004369.4(COL6A3):c.4689C>G (p.Ile1563Met)
|
rs201178064
|
|
|
NM_004369.4(COL6A3):c.4690C>G (p.Arg1564Gly)
|
rs200825417
|
|
|
NM_004369.4(COL6A3):c.4698G>A (p.Ser1566=)
|
|
|
|
NM_004369.4(COL6A3):c.4709G>A (p.Ser1570Asn)
|
rs1473351823
|
|
|
NM_004369.4(COL6A3):c.4720G>A (p.Gly1574Arg)
|
rs1340303980
|
|
|
NM_004369.4(COL6A3):c.4729A>G (p.Asn1577Asp)
|
rs1559239453
|
|
|
NM_004369.4(COL6A3):c.4735G>A (p.Asp1579Asn)
|
|
|
|
NM_004369.4(COL6A3):c.4739G>T (p.Arg1580Ile)
|
|
|
|
NM_004369.4(COL6A3):c.4744G>T (p.Glu1582Ter)
|
|
|
|
NM_004369.4(COL6A3):c.4749G>A (p.Leu1583=)
|
|
|
|
NM_004369.4(COL6A3):c.4759A>G (p.Thr1587Ala)
|
rs745755603
|
|
|
NM_004369.4(COL6A3):c.4765G>C (p.Asp1589His)
|
rs904372024
|
|
|
NM_004369.4(COL6A3):c.4767C>T (p.Asp1589=)
|
|
|
|
NM_004369.4(COL6A3):c.4776G>T (p.Leu1592=)
|
rs2077611451
|
|
|
NM_004369.4(COL6A3):c.4786G>T (p.Val1596Leu)
|
rs886042267
|
|
|
NM_004369.4(COL6A3):c.4787T>C (p.Val1596Ala)
|
rs1559239279
|
|
|
NM_004369.4(COL6A3):c.4817A>T (p.Glu1606Val)
|
rs1064796167
|
|
|
NM_004369.4(COL6A3):c.4825A>G (p.Ile1609Val)
|
|
|
|
NM_004369.4(COL6A3):c.4826T>A (p.Ile1609Asn)
|
|
|
|
NM_004369.4(COL6A3):c.4832A>G (p.Asn1611Ser)
|
rs2106352582
|
|
|
NM_004369.4(COL6A3):c.4837T>C (p.Phe1613Leu)
|
|
|
|
NM_004369.4(COL6A3):c.483C>T (p.Pro161=)
|
rs2106388145
|
|
|
NM_004369.4(COL6A3):c.4849G>T (p.Ala1617Ser)
|
rs200433282
|
|
|
NM_004369.4(COL6A3):c.4862C>T (p.Ala1621Val)
|
rs1168631702
|
|
|
NM_004369.4(COL6A3):c.4863A>T (p.Ala1621=)
|
|
|
|
NM_004369.4(COL6A3):c.4873G>A (p.Val1625Met)
|
rs398124121
|
|
|
NM_004369.4(COL6A3):c.4873G>T (p.Val1625Leu)
|
rs398124121
|
|
|
NM_004369.4(COL6A3):c.4899del (p.Glu1634fs)
|
rs2077607833
|
|
|
NM_004369.4(COL6A3):c.4900+3A>G
|
rs894493736
|
|
|
NM_004369.4(COL6A3):c.4900+9C>A
|
rs117345850
|
|
|
NM_004369.4(COL6A3):c.4901-9C>G
|
|
|
|
NM_004369.4(COL6A3):c.4917C>G (p.Asp1639Glu)
|
rs1553556773
|
|
|
NM_004369.4(COL6A3):c.4921G>A (p.Val1641Met)
|
|
|
|
NM_004369.4(COL6A3):c.4922T>A (p.Val1641Glu)
|
rs1559237565
|
|
|
NM_004369.4(COL6A3):c.4924T>C (p.Phe1642Leu)
|
|
|
|
NM_004369.4(COL6A3):c.4929G>C (p.Leu1643=)
|
|
|
|
NM_004369.4(COL6A3):c.4942A>G (p.Ile1648Val)
|
rs941055048
|
|
|
NM_004369.4(COL6A3):c.4944C>A (p.Ile1648=)
|
|
|
|
NM_004369.4(COL6A3):c.4950C>G (p.Phe1650Leu)
|
rs1574991145
|
|
|
NM_004369.4(COL6A3):c.4957G>T (p.Asp1653Tyr)
|
rs1574991130
|
|
|
NM_004369.4(COL6A3):c.4958A>T (p.Asp1653Val)
|
|
|
|
NM_004369.4(COL6A3):c.4969G>A (p.Glu1657Lys)
|
rs1194443961
|
|
|
NM_004369.4(COL6A3):c.496A>G (p.Lys166Glu)
|
|
|
|
NM_004369.4(COL6A3):c.4974G>T (p.Val1658=)
|
|
|
|
NM_004369.4(COL6A3):c.4976_4978del (p.Leu1659del)
|
|
|
|
NM_004369.4(COL6A3):c.4978C>T (p.Arg1660Cys)
|
rs1553556695
|
|
|
NM_004369.4(COL6A3):c.497A>G (p.Lys166Arg)
|
|
|
|
NM_004369.4(COL6A3):c.4984G>T (p.Val1662Leu)
|
rs886043879
|
|
|
NM_004369.4(COL6A3):c.498G>A (p.Lys166=)
|
rs2106388118
|
|
|
NM_004369.4(COL6A3):c.5002A>G (p.Thr1668Ala)
|
|
|
|
NM_004369.4(COL6A3):c.5004A>C (p.Thr1668=)
|
|
|
|
NM_004369.4(COL6A3):c.500C>T (p.Ser167Phe)
|
rs1028347478
|
|
|
NM_004369.4(COL6A3):c.5019C>A (p.Gly1673=)
|
|
|
|
NM_004369.4(COL6A3):c.5035G>A (p.Gly1679Arg)
|
rs2106350905
|
|
|
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)
|
rs121434553
|
|
|
NM_004369.4(COL6A3):c.5067C>A (p.Asp1689Glu)
|
rs370475865
|
|
|
NM_004369.4(COL6A3):c.5067C>T (p.Asp1689=)
|
rs370475865
|
|
|
NM_004369.4(COL6A3):c.5078T>C (p.Leu1693Pro)
|
|
|
|
NM_004369.4(COL6A3):c.5083G>A (p.Asp1695Asn)
|
|
|
|
NM_004369.4(COL6A3):c.5084A>T (p.Asp1695Val)
|
rs147231661
|
|
|
NM_004369.4(COL6A3):c.5086T>A (p.Phe1696Ile)
|
|
|
|
NM_004369.4(COL6A3):c.5148C>T (p.His1716=)
|
rs114845780
|
|
|
NM_004369.4(COL6A3):c.5156C>T (p.Thr1719Ile)
|
|
|
|
NM_004369.4(COL6A3):c.5159A>G (p.Lys1720Arg)
|
rs2077571169
|
|
|
NM_004369.4(COL6A3):c.5163G>T (p.Val1721=)
|
|
|
|
NM_004369.4(COL6A3):c.5165G>A (p.Gly1722Asp)
|
rs1553556546
|
|
|
NM_004369.4(COL6A3):c.5166C>T (p.Gly1722=)
|
|
|
|
NM_004369.4(COL6A3):c.5168T>G (p.Leu1723Arg)
|
|
|
|
NM_004369.4(COL6A3):c.516G>A (p.Val172=)
|
rs2106388091
|
|
|
NM_004369.4(COL6A3):c.5172G>A (p.Glu1724=)
|
|
|
|
NM_004369.4(COL6A3):c.5210G>A (p.Ser1737Asn)
|
|
|
|
NM_004369.4(COL6A3):c.5214C>T (p.Arg1738=)
|
|
|
|
NM_004369.4(COL6A3):c.5215C>A (p.Leu1739Met)
|
rs2077569879
|
|
|
NM_004369.4(COL6A3):c.5221C>A (p.Gln1741Lys)
|
|
|
|
NM_004369.4(COL6A3):c.5224C>A (p.Arg1742=)
|
rs578249894
|
|
|
NM_004369.4(COL6A3):c.5224C>T (p.Arg1742Trp)
|
rs578249894
|
|
|
NM_004369.4(COL6A3):c.5225G>A (p.Arg1742Gln)
|
rs886042855
|
|
|
NM_004369.4(COL6A3):c.5231C>T (p.Pro1744Leu)
|
|
|
|
NM_004369.4(COL6A3):c.5269G>C (p.Glu1757Gln)
|
|
|
|
NM_004369.4(COL6A3):c.526G>T (p.Gly176Ter)
|
|
|
|
NM_004369.4(COL6A3):c.5272G>A (p.Asp1758Asn)
|
rs536364005
|
|
|
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly)
|
rs150200531
|
|
|
NM_004369.4(COL6A3):c.5281G>A (p.Asp1761Asn)
|
|
|
|
NM_004369.4(COL6A3):c.5305A>T (p.Arg1769Trp)
|
rs2106350563
|
|
|
NM_004369.4(COL6A3):c.5306G>C (p.Arg1769Thr)
|
|
|
|
NM_004369.4(COL6A3):c.5307G>T (p.Arg1769Ser)
|
rs755698278
|
|
|
NM_004369.4(COL6A3):c.5308G>C (p.Gly1770Arg)
|
rs763289509
|
|
|
NM_004369.4(COL6A3):c.5311del (p.Val1771fs)
|
|
|
|
NM_004369.4(COL6A3):c.5318T>C (p.Val1773Ala)
|
rs771598463
|
|
|
NM_004369.4(COL6A3):c.5330G>A (p.Gly1777Glu)
|
|
|
|
NM_004369.4(COL6A3):c.534G>C (p.Glu178Asp)
|
rs1375292407
|
|
|
NM_004369.4(COL6A3):c.5351A>G (p.Glu1784Gly)
|
rs2077565368
|
|
|
NM_004369.4(COL6A3):c.5356G>A (p.Val1786Ile)
|
rs2106350461
|
|
|
NM_004369.4(COL6A3):c.5372C>A (p.Ser1791Tyr)
|
|
|
|
NM_004369.4(COL6A3):c.5373C>T (p.Ser1791=)
|
|
|
|
NM_004369.4(COL6A3):c.5383A>G (p.Thr1795Ala)
|
|
|
|
NM_004369.4(COL6A3):c.538G>T (p.Ala180Ser)
|
|
|
|
NM_004369.4(COL6A3):c.53C>T (p.Ser18Leu)
|
|
|
|
NM_004369.4(COL6A3):c.5403C>A (p.Asn1801Lys)
|
rs114357878
|
|
|
NM_004369.4(COL6A3):c.5412G>A (p.Glu1804=)
|
|
|
|
NM_004369.4(COL6A3):c.5415G>A (p.Leu1805=)
|
|
|
|
NM_004369.4(COL6A3):c.5420A>T (p.Glu1807Val)
|
rs2077563075
|
|
|
NM_004369.4(COL6A3):c.5426G>A (p.Ser1809Asn)
|
rs1553556280
|
|
|
NM_004369.4(COL6A3):c.5428G>A (p.Glu1810Lys)
|
|
|
|
NM_004369.4(COL6A3):c.5428G>C (p.Glu1810Gln)
|
rs1463075616
|
|
|
NM_004369.4(COL6A3):c.5433A>G (p.Gln1811=)
|
rs2106350355
|
|
|
NM_004369.4(COL6A3):c.5452G>A (p.Asp1818Asn)
|
|
|
|
NM_004369.4(COL6A3):c.5456C>T (p.Ala1819Val)
|
rs764242694
|
|
|
NM_004369.4(COL6A3):c.5459T>C (p.Met1820Thr)
|
|
|
|
NM_004369.4(COL6A3):c.5479G>A (p.Gly1827Ser)
|
rs1440752292
|
|
|
NM_004369.4(COL6A3):c.5480del (p.Gly1827fs)
|
rs777304794
|
|
|
NM_004369.4(COL6A3):c.5494G>T (p.Ala1832Ser)
|
|
|
|
NM_004369.4(COL6A3):c.5500+14T>A
|
|
|
|
NM_004369.4(COL6A3):c.5500+17G>T
|
|
|
|
NM_004369.4(COL6A3):c.5500+20T>C
|
rs2077560317
|
|
|
NM_004369.4(COL6A3):c.5500+3A>C
|
rs1345603228
|
|
|
NM_004369.4(COL6A3):c.5500+8C>G
|
rs2077560922
|
|
|
NM_004369.4(COL6A3):c.5501-16C>A
|
|
|
|
NM_004369.4(COL6A3):c.5501-17G>T
|
rs200723656
|
|
|
NM_004369.4(COL6A3):c.5501-7T>G
|
|
|
|
NM_004369.4(COL6A3):c.5501C>A (p.Ala1834Asp)
|
|
|
|
NM_004369.4(COL6A3):c.5504G>C (p.Cys1835Ser)
|
rs1559235332
|
|
|
NM_004369.4(COL6A3):c.5513A>G (p.Asp1838Gly)
|
|
|
|
NM_004369.4(COL6A3):c.5524G>A (p.Gly1842Arg)
|
|
|
|
NM_004369.4(COL6A3):c.5534G>C (p.Gly1845Ala)
|
rs747200439
|
|
|
NM_004369.4(COL6A3):c.5550T>C (p.Asn1850=)
|
|
|
|
NM_004369.4(COL6A3):c.5552T>C (p.Val1851Ala)
|
rs1559235183
|
|
|
NM_004369.4(COL6A3):c.5568G>A (p.Lys1856=)
|
rs2106349387
|
|
|
NM_004369.4(COL6A3):c.5578T>C (p.Ser1860Pro)
|
|
|
|
NM_004369.4(COL6A3):c.5581A>T (p.Lys1861Ter)
|
|
|
|
NM_004369.4(COL6A3):c.5583G>T (p.Lys1861Asn)
|
rs906293407
|
|
|
NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr)
|
rs756521643
|
|
|
NM_004369.4(COL6A3):c.5590G>T (p.Ala1864Ser)
|
rs756521643
|
|
|
NM_004369.4(COL6A3):c.5593A>G (p.Ile1865Val)
|
|
|
|
NM_004369.4(COL6A3):c.5597T>C (p.Leu1866Ser)
|
rs1465215888
|
|
|
NM_004369.4(COL6A3):c.5605A>G (p.Ile1869Val)
|
|
|
|
NM_004369.4(COL6A3):c.5632_5633delinsCC (p.Ser1878Pro)
|
rs1559234936
|
|
|
NM_004369.4(COL6A3):c.563T>C (p.Ile188Thr)
|
|
|
|
NM_004369.4(COL6A3):c.5645C>T (p.Ser1882Leu)
|
rs368943871
|
|
|
NM_004369.4(COL6A3):c.5649C>T (p.Pro1883=)
|
rs886044430
|
|
|
NM_004369.4(COL6A3):c.5650A>G (p.Thr1884Ala)
|
|
|
|
NM_004369.4(COL6A3):c.5653G>A (p.Val1885Met)
|
|
|
|
NM_004369.4(COL6A3):c.5659G>T (p.Val1887Leu)
|
|
|
|
NM_004369.4(COL6A3):c.565G>A (p.Ala189Thr)
|
|
|
|
NM_004369.4(COL6A3):c.5668G>A (p.Val1890Met)
|
|
|
|
NM_004369.4(COL6A3):c.5678C>A (p.Thr1893Lys)
|
rs143389941
|
|
|
NM_004369.4(COL6A3):c.5685G>A (p.Ser1895=)
|
rs1026411798
|
|
|
NM_004369.4(COL6A3):c.5688C>A (p.Gly1896=)
|
|
|
|
NM_004369.4(COL6A3):c.5689C>T (p.Pro1897Ser)
|
|
|
|
NM_004369.4(COL6A3):c.5691G>A (p.Pro1897=)
|
|
|
|
NM_004369.4(COL6A3):c.56G>A (p.Gly19Asp)
|
|
|
|
NM_004369.4(COL6A3):c.5705A>G (p.Asp1902Gly)
|
|
|
|
NM_004369.4(COL6A3):c.5713G>A (p.Glu1905Lys)
|
|
|
|
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe)
|
rs2106349155
|
|
|
NM_004369.4(COL6A3):c.5733C>T (p.Leu1911=)
|
|
|
|
NM_004369.4(COL6A3):c.5752C>A (p.Arg1918Ser)
|
rs750367811
|
|
|
NM_004369.4(COL6A3):c.5752C>G (p.Arg1918Gly)
|
|
|
|
NM_004369.4(COL6A3):c.5752C>T (p.Arg1918Cys)
|
|
|
|
NM_004369.4(COL6A3):c.5753G>A (p.Arg1918His)
|
rs139230842
|
|
|
NM_004369.4(COL6A3):c.575C>G (p.Pro192Arg)
|
|
|
|
NM_004369.4(COL6A3):c.5765C>G (p.Pro1922Arg)
|
rs1351246573
|
|
|
NM_004369.4(COL6A3):c.5768A>G (p.Tyr1923Cys)
|
rs1574987599
|
|
|
NM_004369.4(COL6A3):c.576G>A (p.Pro192=)
|
rs141560881
|
|
|
NM_004369.4(COL6A3):c.576G>T (p.Pro192=)
|
rs141560881
|
|
|
NM_004369.4(COL6A3):c.5777C>A (p.Thr1926Lys)
|
|
|
|
NM_004369.4(COL6A3):c.5788C>T (p.Leu1930=)
|
|
|
|
NM_004369.4(COL6A3):c.5794G>A (p.Val1932Ile)
|
rs113817270
|
|
|
NM_004369.4(COL6A3):c.5804A>G (p.Asn1935Ser)
|
rs1574987505
|
|
|
NM_004369.4(COL6A3):c.5806A>G (p.Lys1936Glu)
|
|
|
|
NM_004369.4(COL6A3):c.580A>G (p.Asn194Asp)
|
rs2078384466
|
|
|
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met)
|
rs113332380
|
|
|
NM_004369.4(COL6A3):c.5838+1G>T
|
rs1559234260
|
|
|
NM_004369.4(COL6A3):c.5838+5G>A
|
rs1553555753
|
|
|
NM_004369.4(COL6A3):c.5838+9G>C
|
|
|
|
NM_004369.4(COL6A3):c.5839-9T>C
|
rs745307761
|
|
|
NM_004369.4(COL6A3):c.5839-9T>G
|
|
|
|
NM_004369.4(COL6A3):c.5842G>T (p.Val1948Phe)
|
rs1454153037
|
|
|
NM_004369.4(COL6A3):c.5844C>T (p.Val1948=)
|
rs2106347308
|
|
|
NM_004369.4(COL6A3):c.584T>C (p.Met195Thr)
|
rs2078384209
|
|
|
NM_004369.4(COL6A3):c.5879C>T (p.Ala1960Val)
|
|
|
|
NM_004369.4(COL6A3):c.587A>G (p.His196Arg)
|
|
|
|
NM_004369.4(COL6A3):c.5881G>A (p.Asp1961Asn)
|
|
|
|
NM_004369.4(COL6A3):c.5892A>T (p.Arg1964Ser)
|
|
|
|
NM_004369.4(COL6A3):c.5893G>A (p.Ala1965Thr)
|
rs1364239110
|
|
|
NM_004369.4(COL6A3):c.5895A>T (p.Ala1965=)
|
|
|
|
NM_004369.4(COL6A3):c.5896T>G (p.Ser1966Ala)
|
rs200110562
|
|
|
NM_004369.4(COL6A3):c.5897C>A (p.Ser1966Tyr)
|
rs2077502544
|
|
|
NM_004369.4(COL6A3):c.5900A>C (p.Glu1967Ala)
|
rs773896666
|
|
|
NM_004369.4(COL6A3):c.5908C>T (p.Arg1970Cys)
|
rs886042371
|
|
|
NM_004369.4(COL6A3):c.5918-11T>C
|
|
|
|
NM_004369.4(COL6A3):c.5918-17T>C
|
rs2106346191
|
|
|
NM_004369.4(COL6A3):c.5918-7T>G
|
rs1004578583
|
|
|
NM_004369.4(COL6A3):c.5921T>C (p.Val1974Ala)
|
|
|
|
NM_004369.4(COL6A3):c.5923C>T (p.Arg1975Cys)
|
|
|
|
NM_004369.4(COL6A3):c.5924G>A (p.Arg1975His)
|
|
|
|
NM_004369.4(COL6A3):c.5938G>C (p.Val1980Leu)
|
|
|
|
NM_004369.4(COL6A3):c.5944C>T (p.Leu1982Phe)
|
|
|
|
NM_004369.4(COL6A3):c.5946dup (p.Glu1983Ter)
|
|
|
|
NM_004369.4(COL6A3):c.5951G>A (p.Arg1984Gln)
|
rs1362987398
|
|
|
NM_004369.4(COL6A3):c.5957T>G (p.Val1986Gly)
|
rs558534346
|
|
|
NM_004369.4(COL6A3):c.595A>C (p.Asn199His)
|
|
|
|
NM_004369.4(COL6A3):c.5964G>A (p.Leu1988=)
|
|
|
|
NM_004369.4(COL6A3):c.5977C>T (p.His1993Tyr)
|
rs1559231403
|
|
|
NM_004369.4(COL6A3):c.5982G>T (p.Leu1994=)
|
|
|
|
NM_004369.4(COL6A3):c.5989G>A (p.Gly1997Arg)
|
rs1326219992
|
|
|
NM_004369.4(COL6A3):c.5992C>T (p.Arg1998Ter)
|
|
|
|
NM_004369.4(COL6A3):c.5996G>A (p.Gly1999Glu)
|
|
|
|
NM_004369.4(COL6A3):c.5997G>A (p.Gly1999=)
|
rs372028656
|
|
|
NM_004369.4(COL6A3):c.6022C>G (p.Leu2008Val)
|
rs1211265308
|
|
|
NM_004369.4(COL6A3):c.6023T>G (p.Leu2008Arg)
|
|
|
|
NM_004369.4(COL6A3):c.6063+12_6063+13dup
|
rs11385011
|
|
|
NM_004369.4(COL6A3):c.6063+13T>A
|
|
|
|
NM_004369.4(COL6A3):c.6063+13dup
|
rs11385011
|
|
|
NM_004369.4(COL6A3):c.6063+14A>T
|
rs1242577749
|
|
|
NM_004369.4(COL6A3):c.6063+14_6063+15insG
|
rs2106345949
|
|
|
NM_004369.4(COL6A3):c.6063+5dup
|
rs2077478134
|
|
|
NM_004369.4(COL6A3):c.6064-11C>T
|
|
|
|
NM_004369.4(COL6A3):c.6064-16C>A
|
|
|
|
NM_004369.4(COL6A3):c.6064-6C>G
|
rs202091342
|
|
|
NM_004369.4(COL6A3):c.6064-7T>G
|
|
|
|
NM_004369.4(COL6A3):c.6064-8T>G
|
rs2106344303
|
|
|
NM_004369.4(COL6A3):c.6066C>T (p.Asp2022=)
|
rs886044237
|
|
|
NM_004369.4(COL6A3):c.6071T>C (p.Ile2024Thr)
|
|
|
|
NM_004369.4(COL6A3):c.6076G>A (p.Glu2026Lys)
|
|
|
|
NM_004369.4(COL6A3):c.6077A>G (p.Glu2026Gly)
|
rs2106344266
|
|
|
NM_004369.4(COL6A3):c.6086G>A (p.Cys2029Tyr)
|
rs758893173
|
|
|
NM_004369.4(COL6A3):c.6094G>T (p.Val2032Phe)
|
rs1316305394
|
|
|
NM_004369.4(COL6A3):c.610A>T (p.Thr204Ser)
|
|
|
|
NM_004369.4(COL6A3):c.6114dup (p.Gln2039fs)
|
rs2106344225
|
|
|
NM_004369.4(COL6A3):c.6119G>A (p.Arg2040Lys)
|
|
|
|
NM_004369.4(COL6A3):c.6119G>T (p.Arg2040Met)
|
|
|
|
NM_004369.4(COL6A3):c.611C>A (p.Thr204Asn)
|
rs1574755113
|
|
|
NM_004369.4(COL6A3):c.6120G>T (p.Arg2040Ser)
|
rs767129751
|
|
|
NM_004369.4(COL6A3):c.6130G>A (p.Gly2044Arg)
|
rs1559229322
|
|
|
NM_004369.4(COL6A3):c.6136A>G (p.Ile2046Val)
|
|
|
|
NM_004369.4(COL6A3):c.6147C>T (p.Ile2049=)
|
|
|
|
NM_004369.4(COL6A3):c.6149G>A (p.Gly2050Glu)
|
|
|
|
NM_004369.4(COL6A3):c.6152C>T (p.Pro2051Leu)
|
|
|
|
NM_004369.4(COL6A3):c.6156+1G>A
|
rs1553554298
|
|
|
NM_004369.4(COL6A3):c.6156+1G>T
|
rs1553554298
|
|
|
NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn)
|
rs398124125
|
|
|
NM_004369.4(COL6A3):c.6156G>T (p.Lys2052Asn)
|
rs398124125
|
|
|
NM_004369.4(COL6A3):c.6157-16G>C
|
|
|
|
NM_004369.4(COL6A3):c.6157G>C (p.Gly2053Arg)
|
|
|
|
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
|
|
|
|
NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val)
|
rs886041329
|
|
|
NM_004369.4(COL6A3):c.6167G>A (p.Gly2056Glu)
|
rs1064795558
|
|
|
NM_004369.4(COL6A3):c.6168A>G (p.Gly2056=)
|
rs1574978545
|
|
|
NM_004369.4(COL6A3):c.6185G>A (p.Gly2062Asp)
|
rs2106343480
|
|
|
NM_004369.4(COL6A3):c.6188A>G (p.Tyr2063Cys)
|
rs2106343479
|
|
|
NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser)
|
rs397515332
|
|
|
NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg)
|
rs397515332
|
|
|
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)
|
rs760446904
|
|
|
NM_004369.4(COL6A3):c.619C>A (p.His207Asn)
|
rs749985039
|
|
|
NM_004369.4(COL6A3):c.619C>T (p.His207Tyr)
|
rs749985039
|
|
|
NM_004369.4(COL6A3):c.6202G>T (p.Gly2068Cys)
|
|
|
|
NM_004369.4(COL6A3):c.6203G>A (p.Gly2068Asp)
|
rs963783516
|
|
|
NM_004369.4(COL6A3):c.6210+13T>C
|
|
|
|
NM_004369.4(COL6A3):c.6210+15T>C
|
rs2106343420
|
|
|
NM_004369.4(COL6A3):c.6210+1G>A
|
rs398124126
|
|
|
NM_004369.4(COL6A3):c.6210+4dup
|
|
|
|
NM_004369.4(COL6A3):c.6210+9_6210+19del
|
|
|
|
NM_004369.4(COL6A3):c.6211-11T>A
|
|
|
|
NM_004369.4(COL6A3):c.6211-17T>G
|
|
|
|
NM_004369.4(COL6A3):c.6211-4A>G
|
rs398124127
|
|
|
NM_004369.4(COL6A3):c.6211G>T (p.Gly2071Cys)
|
rs2106342311
|
|
|
NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp)
|
rs886043737
|
|
|
NM_004369.4(COL6A3):c.6212_6309+28del
|
rs1553553313
|
|
|
NM_004369.4(COL6A3):c.6213T>C (p.Gly2071=)
|
|
|
|
NM_004369.4(COL6A3):c.6217C>T (p.Arg2073Cys)
|
rs1306849935
|
|
|
NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser)
|
rs886044252
|
|
|
NM_004369.4(COL6A3):c.6221G>A (p.Gly2074Asp)
|
|
|
|
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp)
|
rs1553553646
|
|
|
NM_004369.4(COL6A3):c.6230G>T (p.Gly2077Val)
|
rs1553553646
|
|
|
NM_004369.4(COL6A3):c.6232G>A (p.Val2078Met)
|
|
|
|
NM_004369.4(COL6A3):c.6232G>C (p.Val2078Leu)
|
rs2106342286
|
|
|
NM_004369.4(COL6A3):c.6235A>T (p.Asn2079Tyr)
|
rs2106342283
|
|
|
NM_004369.4(COL6A3):c.6236A>G (p.Asn2079Ser)
|
|
|
|
NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg)
|
rs1553553625
|
|
|
NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp)
|
rs794727188
|
|
|
NM_004369.4(COL6A3):c.6239G>T (p.Gly2080Val)
|
rs794727188
|
|
|
NM_004369.4(COL6A3):c.6245_6247del (p.Gln2082_Gly2083delinsArg)
|
|
|
|
NM_004369.4(COL6A3):c.6248G>A (p.Gly2083Asp)
|
|
|
|
NM_004369.4(COL6A3):c.6260G>A (p.Cys2087Tyr)
|
|
|
|
NM_004369.4(COL6A3):c.626T>C (p.Ile209Thr)
|
|
|
|
NM_004369.4(COL6A3):c.6282+1G>A
|
rs398124128
|
|
|
NM_004369.4(COL6A3):c.6282+20G>A
|
|
|
|
NM_004369.4(COL6A3):c.6282+8G>A
|
|
|
|
NM_004369.4(COL6A3):c.6283-14G>A
|
|
|
|
NM_004369.4(COL6A3):c.6283-15C>A
|
|
|
|
NM_004369.4(COL6A3):c.6283-1G>A
|
rs2106341460
|
|
|
NM_004369.4(COL6A3):c.6283-326_6296del
|
rs2106341434
|
|
|
NM_004369.4(COL6A3):c.6287C>T (p.Ser2096Phe)
|
rs765213888
|
|
|
NM_004369.4(COL6A3):c.6290G>A (p.Arg2097Gln)
|
rs79375816
|
|
|
NM_004369.4(COL6A3):c.6293G>T (p.Gly2098Val)
|
rs794727206
|
|
|
NM_004369.4(COL6A3):c.6308A>G (p.Lys2103Arg)
|
rs1574975203
|
|
|
NM_004369.4(COL6A3):c.6309+10C>G
|
rs2077385627
|
|
|
NM_004369.4(COL6A3):c.6309+1G>A
|
rs886043919
|
|
|
NM_004369.4(COL6A3):c.6309+1G>C
|
rs886043919
|
|
|
NM_004369.4(COL6A3):c.6309+1G>T
|
rs886043919
|
|
|
NM_004369.4(COL6A3):c.6309+3A>T
|
rs1553553327
|
|
|
NM_004369.4(COL6A3):c.6309+8A>G
|
rs2077385691
|
|
|
NM_004369.4(COL6A3):c.6309G>A (p.Lys2103=)
|
rs1574975196
|
|
|
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn)
|
rs1574975196
|
|
|
NM_004369.4(COL6A3):c.6309_6309+1del
|
rs2077385886
|
|
|
NM_004369.4(COL6A3):c.6310-17G>A
|
|
|
|
NM_004369.4(COL6A3):c.6310-28_6325del
|
rs1553553267
|
|
|
NM_004369.4(COL6A3):c.6310-2A>G
|
rs1559225993
|
|
|
NM_004369.4(COL6A3):c.6317T>G (p.Val2106Gly)
|
|
|
|
NM_004369.4(COL6A3):c.6318A>G (p.Val2106=)
|
rs1574974939
|
|
|
NM_004369.4(COL6A3):c.6354+12T>A
|
|
|
|
NM_004369.4(COL6A3):c.6354+1G>A
|
rs886042883
|
|
|
NM_004369.4(COL6A3):c.6354+1G>T
|
rs886042883
|
|
|
NM_004369.4(COL6A3):c.6354+5G>A
|
|
|
|
NM_004369.4(COL6A3):c.6355-10T>C
|
|
|
|
NM_004369.4(COL6A3):c.6355-2dup
|
rs2077379376
|
|
|
NM_004369.4(COL6A3):c.6356G>A (p.Gly2119Glu)
|
rs1574974640
|
|
|
NM_004369.4(COL6A3):c.6371C>G (p.Pro2124Arg)
|
|
|
|
NM_004369.4(COL6A3):c.6391G>A (p.Gly2131Arg)
|
|
|
|
NM_004369.4(COL6A3):c.6408+17G>A
|
|
|
|
NM_004369.4(COL6A3):c.6409-13G>A
|
|
|
|
NM_004369.4(COL6A3):c.6409-19A>G
|
|
|
|
NM_004369.4(COL6A3):c.6409-1G>C
|
|
|
|
NM_004369.4(COL6A3):c.6409-8T>C
|
rs2106340546
|
|
|
NM_004369.4(COL6A3):c.6416A>T (p.Lys2139Ile)
|
|
|
|
NM_004369.4(COL6A3):c.6424C>G (p.Arg2142Gly)
|
rs530866854
|
|
|
NM_004369.4(COL6A3):c.6427G>A (p.Gly2143Arg)
|
|
|
|
NM_004369.4(COL6A3):c.6434_6469dup (p.Asp2156_Pro2157insGlnGlyGluArgGlyAspValGlyIleArgGlyAsp)
|
rs2106340479
|
|
|
NM_004369.4(COL6A3):c.6436G>A (p.Gly2146Arg)
|
rs2106340509
|
|
|
NM_004369.4(COL6A3):c.6441A>G (p.Glu2147=)
|
|
|
|
NM_004369.4(COL6A3):c.6443G>A (p.Arg2148Lys)
|
rs1574973805
|
|
|
NM_004369.4(COL6A3):c.6448G>A (p.Asp2150Asn)
|
rs2077367323
|
|
|
NM_004369.4(COL6A3):c.6450T>C (p.Asp2150=)
|
|
|
|
NM_004369.4(COL6A3):c.6458T>C (p.Ile2153Thr)
|
|
|
|
NM_004369.4(COL6A3):c.6461G>C (p.Arg2154Pro)
|
rs145561490
|
|
|
NM_004369.4(COL6A3):c.6466G>C (p.Asp2156His)
|
rs1483242059
|
|
|
NM_004369.4(COL6A3):c.6471+17T>C
|
|
|
|
NM_004369.4(COL6A3):c.6472-15C>T
|
|
|
|
NM_004369.4(COL6A3):c.6472-7C>G
|
|
|
|
NM_004369.4(COL6A3):c.647G>C (p.Cys216Ser)
|
|
|
|
NM_004369.4(COL6A3):c.6489C>G (p.Asp2163Glu)
|
rs758376967
|
|
|
NM_004369.4(COL6A3):c.649G>T (p.Val217Leu)
|
rs745761792
|
|
|
NM_004369.4(COL6A3):c.6514G>C (p.Glu2172Gln)
|
|
|
|
NM_004369.4(COL6A3):c.6529G>A (p.Gly2177Ser)
|
|
|
|
NM_004369.4(COL6A3):c.6531C>T (p.Gly2177=)
|
|
|
|
NM_004369.4(COL6A3):c.6533C>G (p.Pro2178Arg)
|
rs762287373
|
|
|
NM_004369.4(COL6A3):c.6533C>T (p.Pro2178Leu)
|
|
|
|
NM_004369.4(COL6A3):c.6535A>C (p.Met2179Leu)
|
|
|
|
NM_004369.4(COL6A3):c.6537+15A>G
|
|
|
|
NM_004369.4(COL6A3):c.6538-12T>C
|
|
|
|
NM_004369.4(COL6A3):c.6538-13T>C
|
rs754557027
|
|
|
NM_004369.4(COL6A3):c.6538-20G>C
|
|
|
|
NM_004369.4(COL6A3):c.6538-5A>C
|
rs1574971750
|
|
|
NM_004369.4(COL6A3):c.6559G>C (p.Val2187Leu)
|
rs2106339211
|
|
|
NM_004369.4(COL6A3):c.6585G>A (p.Gly2195=)
|
rs1172324866
|
|
|
NM_004369.4(COL6A3):c.6588G>A (p.Lys2196=)
|
|
|
|
NM_004369.4(COL6A3):c.658T>A (p.Ser220Thr)
|
|
|
|
NM_004369.4(COL6A3):c.6591+15G>T
|
|
|
|
NM_004369.4(COL6A3):c.6591+5G>A
|
rs1574971639
|
|
|
NM_004369.4(COL6A3):c.6591+7G>A
|
|
|
|
NM_004369.4(COL6A3):c.6592-11T>C
|
|
|
|
NM_004369.4(COL6A3):c.6592-19_6592-10del
|
rs2077285974
|
|
|
NM_004369.4(COL6A3):c.6592-8T>C
|
rs994267675
|
|
|
NM_004369.4(COL6A3):c.6595G>A (p.Gly2199Ser)
|
rs761353795
|
|
|
NM_004369.4(COL6A3):c.6596G>A (p.Gly2199Asp)
|
rs1319341064
|
|
|
NM_004369.4(COL6A3):c.6597C>T (p.Gly2199=)
|
|
|
|
NM_004369.4(COL6A3):c.6605G>A (p.Arg2202Gln)
|
|
|
|
NM_004369.4(COL6A3):c.660C>T (p.Ser220=)
|
|
|
|
NM_004369.4(COL6A3):c.6613C>A (p.Pro2205Thr)
|
rs748768672
|
|
|
NM_004369.4(COL6A3):c.6618dup (p.Gly2207fs)
|
|
|
|
NM_004369.4(COL6A3):c.6619G>A (p.Gly2207Arg)
|
|
|
|
NM_004369.4(COL6A3):c.661G>A (p.Val221Met)
|
rs765527121
|
|
|
NM_004369.4(COL6A3):c.661G>T (p.Val221Leu)
|
|
|
|
NM_004369.4(COL6A3):c.6622G>A (p.Ala2208Thr)
|
rs398124129
|
|
|
NM_004369.4(COL6A3):c.6622G>T (p.Ala2208Ser)
|
rs398124129
|
|
|
NM_004369.4(COL6A3):c.6627+15G>A
|
|
|
|
NM_004369.4(COL6A3):c.6627+19C>A
|
|
|
|
NM_004369.4(COL6A3):c.6627+3G>A
|
|
|
|
NM_004369.4(COL6A3):c.6627+9C>T
|
|
|
|
NM_004369.4(COL6A3):c.6639C>T (p.Gly2213=)
|
rs765837100
|
|
|
NM_004369.4(COL6A3):c.6654G>T (p.Pro2218=)
|
rs147537071
|
|
|
NM_004369.4(COL6A3):c.6662A>T (p.Glu2221Val)
|
rs2106334478
|
|
|
NM_004369.4(COL6A3):c.6666A>G (p.Gly2222=)
|
|
|
|
NM_004369.4(COL6A3):c.6675G>T (p.Gly2225=)
|
rs538533719
|
|
|
NM_004369.4(COL6A3):c.6690+11C>T
|
|
|
|
NM_004369.4(COL6A3):c.6690+12C>T
|
|
|
|
NM_004369.4(COL6A3):c.6690+13G>A
|
|
|
|
NM_004369.4(COL6A3):c.6691-10C>T
|
|
|
|
NM_004369.4(COL6A3):c.6691-16T>G
|
rs1211086568
|
|
|
NM_004369.4(COL6A3):c.6697GCTGGTCCT[3] (p.Pro2238_Pro2239insAlaGlyPro)
|
|
|
|
NM_004369.4(COL6A3):c.669A>C (p.Pro223=)
|
|
|
|
NM_004369.4(COL6A3):c.669A>G (p.Pro223=)
|
rs1246288754
|
|
|
NM_004369.4(COL6A3):c.6715C>G (p.Pro2239Ala)
|
rs1574963550
|
|
|
NM_004369.4(COL6A3):c.6717A>G (p.Pro2239=)
|
|
|
|
NM_004369.4(COL6A3):c.6724A>G (p.Ile2242Val)
|
|
|
|
NM_004369.4(COL6A3):c.6730G>C (p.Glu2244Gln)
|
rs753307921
|
|
|
NM_004369.4(COL6A3):c.6739A>G (p.Ile2247Val)
|
rs1473692842
|
|
|
NM_004369.4(COL6A3):c.6752G>A (p.Arg2251Gln)
|
|
|
|
NM_004369.4(COL6A3):c.6753+15A>G
|
|
|
|
NM_004369.4(COL6A3):c.6754-12C>T
|
rs2077199421
|
|
|
NM_004369.4(COL6A3):c.6754-15C>T
|
|
|
|
NM_004369.4(COL6A3):c.6754-18C>G
|
|
|
|
NM_004369.4(COL6A3):c.6754-18C>T
|
|
|
|
NM_004369.4(COL6A3):c.6754-20T>C
|
|
|
|
NM_004369.4(COL6A3):c.6760G>A (p.Gly2254Arg)
|
|
|
|
NM_004369.4(COL6A3):c.6775G>A (p.Ala2259Thr)
|
rs2077198497
|
|
|
NM_004369.4(COL6A3):c.6776C>G (p.Ala2259Gly)
|
|
|
|
NM_004369.4(COL6A3):c.6776C>T (p.Ala2259Val)
|
|
|
|
NM_004369.4(COL6A3):c.6788G>A (p.Arg2263Gln)
|
|
|
|
NM_004369.4(COL6A3):c.6790G>A (p.Gly2264Ser)
|
|
|
|
NM_004369.4(COL6A3):c.6798C>G (p.Thr2266=)
|
rs116541926
|
|
|
NM_004369.4(COL6A3):c.6802C>T (p.Pro2268Ser)
|
|
|
|
NM_004369.4(COL6A3):c.6807G>C (p.Leu2269=)
|
|
|
|
NM_004369.4(COL6A3):c.6810A>C (p.Gly2270=)
|
|
|
|
NM_004369.4(COL6A3):c.6816+8T>G
|
|
|
|
NM_004369.4(COL6A3):c.6816G>C (p.Lys2272Asn)
|
rs2077197570
|
|
|
NM_004369.4(COL6A3):c.6817-5T>C
|
rs794727464
|
|
|
NM_004369.4(COL6A3):c.6817-6G>A
|
rs886042773
|
|
|
NM_004369.4(COL6A3):c.6817-9C>G
|
|
|
|
NM_004369.4(COL6A3):c.6826G>A (p.Gly2276Arg)
|
rs761156771
|
|
|
NM_004369.4(COL6A3):c.682G>T (p.Asp228Tyr)
|
|
|
|
NM_004369.4(COL6A3):c.6832C>A (p.Pro2278Thr)
|
rs1574958818
|
|
|
NM_004369.4(COL6A3):c.6848G>T (p.Gly2283Val)
|
rs1186288111
|
|
|
NM_004369.4(COL6A3):c.684C>T (p.Asp228=)
|
rs771393722
|
|
|
NM_004369.4(COL6A3):c.6855G>A (p.Gly2285=)
|
rs3790993
|
|
|
NM_004369.4(COL6A3):c.6869G>A (p.Arg2290His)
|
rs398124131
|
|
|
NM_004369.4(COL6A3):c.6878C>A (p.Thr2293Lys)
|
rs759657526
|
|
|
NM_004369.4(COL6A3):c.6879+13C>T
|
rs754120322
|
|
|
NM_004369.4(COL6A3):c.6879+14G>T
|
|
|
|
NM_004369.4(COL6A3):c.6879+16G>T
|
|
|
|
NM_004369.4(COL6A3):c.6879+18T>C
|
|
|
|
NM_004369.4(COL6A3):c.6879G>A (p.Thr2293=)
|
rs886044656
|
|
|
NM_004369.4(COL6A3):c.687G>A (p.Thr229=)
|
|
|
|
NM_004369.4(COL6A3):c.6880-20C>A
|
|
|
|
NM_004369.4(COL6A3):c.6880-6T>C
|
rs1023123323
|
|
|
NM_004369.4(COL6A3):c.6880-7C>A
|
|
|
|
NM_004369.4(COL6A3):c.6880-8A>G
|
rs377004585
|
|
|
NM_004369.4(COL6A3):c.6885T>C (p.Asp2295=)
|
|
|
|
NM_004369.4(COL6A3):c.6889G>A (p.Gly2297Arg)
|
rs1224613890
|
|
|
NM_004369.4(COL6A3):c.6901G>A (p.Val2301Ile)
|
|
|
|
NM_004369.4(COL6A3):c.6901G>T (p.Val2301Phe)
|
rs1559212695
|
|
|
NM_004369.4(COL6A3):c.6903T>C (p.Val2301=)
|
|
|
|
NM_004369.4(COL6A3):c.6908G>C (p.Ser2303Thr)
|
rs2106329002
|
|
|
NM_004369.4(COL6A3):c.6914G>A (p.Gly2305Glu)
|
|
|
|
NM_004369.4(COL6A3):c.6915A>G (p.Gly2305=)
|
|
|
|
NM_004369.4(COL6A3):c.6916C>A (p.Arg2306Ser)
|
rs370862741
|
|
|
NM_004369.4(COL6A3):c.6916C>T (p.Arg2306Cys)
|
|
|
|
NM_004369.4(COL6A3):c.6917G>A (p.Arg2306His)
|
rs1177122610
|
|
|
NM_004369.4(COL6A3):c.692C>A (p.Thr231Asn)
|
|
|
|
NM_004369.4(COL6A3):c.6930+5G>A
|
rs749037028
|
|
|
NM_004369.4(COL6A3):c.6930+6dup
|
|
|
|
NM_004369.4(COL6A3):c.6930A>T (p.Lys2310Asn)
|
|
|
|
NM_004369.4(COL6A3):c.6931-10dup
|
rs2106328779
|
|
|
NM_004369.4(COL6A3):c.6931-19A>G
|
|
|
|
NM_004369.4(COL6A3):c.6931-19A>T
|
rs771629624
|
|
|
NM_004369.4(COL6A3):c.6946C>T (p.Pro2316Ser)
|
rs1243164167
|
|
|
NM_004369.4(COL6A3):c.6956C>A (p.Pro2319Gln)
|
|
|
|
NM_004369.4(COL6A3):c.6956C>T (p.Pro2319Leu)
|
rs751617505
|
|
|
NM_004369.4(COL6A3):c.6962C>A (p.Pro2321Gln)
|
rs1207239805
|
|
|
NM_004369.4(COL6A3):c.6966+11C>T
|
|
|
|
NM_004369.4(COL6A3):c.6966+18G>A
|
|
|
|
NM_004369.4(COL6A3):c.6966+9T>A
|
|
|
|
NM_004369.4(COL6A3):c.6967-10T>C
|
rs777986767
|
|
|
NM_004369.4(COL6A3):c.6967-18T>A
|
|
|
|
NM_004369.4(COL6A3):c.6967-2A>G
|
|
|
|
NM_004369.4(COL6A3):c.6972C>A (p.Asn2324Lys)
|
rs113961575
|
|
|
NM_004369.4(COL6A3):c.6973C>A (p.Pro2325Thr)
|
rs886044392
|
|
|
NM_004369.4(COL6A3):c.6973C>G (p.Pro2325Ala)
|
rs886044392
|
|
|
NM_004369.4(COL6A3):c.6982C>A (p.Pro2328Thr)
|
rs371637449
|
|
|
NM_004369.4(COL6A3):c.7006C>T (p.Pro2336Ser)
|
rs2077126598
|
|
|
NM_004369.4(COL6A3):c.7007C>A (p.Pro2336His)
|
|
|
|
NM_004369.4(COL6A3):c.7016T>C (p.Ile2339Thr)
|
|
|
|
NM_004369.4(COL6A3):c.7017C>A (p.Ile2339=)
|
|
|
|
NM_004369.4(COL6A3):c.7022G>A (p.Gly2341Asp)
|
|
|
|
NM_004369.4(COL6A3):c.7029+11G>A
|
|
|
|
NM_004369.4(COL6A3):c.7029+13_7029+44del
|
|
|
|
NM_004369.4(COL6A3):c.7029+19T>C
|
|
|
|
NM_004369.4(COL6A3):c.7030-20G>A
|
|
|
|
NM_004369.4(COL6A3):c.7030-4C>G
|
rs886042395
|
|
|
NM_004369.4(COL6A3):c.7039G>A (p.Gly2347Arg)
|
rs2106326911
|
|
|
NM_004369.4(COL6A3):c.7040G>A (p.Gly2347Glu)
|
|
|
|
NM_004369.4(COL6A3):c.7047A>C (p.Pro2349=)
|
rs1574951790
|
|
|
NM_004369.4(COL6A3):c.7055T>G (p.Val2352Gly)
|
rs1482724586
|
|
|
NM_004369.4(COL6A3):c.705C>A (p.Ile235=)
|
|
|
|
NM_004369.4(COL6A3):c.705C>T (p.Ile235=)
|
rs993297723
|
|
|
NM_004369.4(COL6A3):c.7069G>A (p.Asp2357Asn)
|
|
|
|
NM_004369.4(COL6A3):c.7081C>T (p.Pro2361Ser)
|
rs934983963
|
|
|
NM_004369.4(COL6A3):c.7087C>G (p.Pro2363Ala)
|
|
|
|
NM_004369.4(COL6A3):c.709+11C>G
|
|
|
|
NM_004369.4(COL6A3):c.709+12G>A
|
|
|
|
NM_004369.4(COL6A3):c.709+13C>T
|
|
|
|
NM_004369.4(COL6A3):c.709+16C>T
|
|
|
|
NM_004369.4(COL6A3):c.709+18A>C
|
|
|
|
NM_004369.4(COL6A3):c.709+18A>G
|
|
|
|
NM_004369.4(COL6A3):c.709+9A>C
|
|
|
|
NM_004369.4(COL6A3):c.7092+16G>C
|
|
|
|
NM_004369.4(COL6A3):c.7092+5G>A
|
|
|
|
NM_004369.4(COL6A3):c.7093-15T>C
|
|
|
|
NM_004369.4(COL6A3):c.7093-17G>A
|
|
|
|
NM_004369.4(COL6A3):c.7093-18C>T
|
|
|
|
NM_004369.4(COL6A3):c.7093-5dup
|
rs751423264
|
|
|
NM_004369.4(COL6A3):c.7093-9G>T
|
rs2106325624
|
|
|
NM_004369.4(COL6A3):c.709G>A (p.Ala237Thr)
|
rs1553564820
|
|
|
NM_004369.4(COL6A3):c.710-20dup
|
rs759721812
|
|
|
NM_004369.4(COL6A3):c.710-6_710-5dup
|
|
|
|
NM_004369.4(COL6A3):c.7100A>G (p.Lys2367Arg)
|
|
|
|
NM_004369.4(COL6A3):c.7101G>A (p.Lys2367=)
|
rs775666497
|
|
|
NM_004369.4(COL6A3):c.7107C>T (p.Asn2369=)
|
rs1410340783
|
|
|
NM_004369.4(COL6A3):c.7112G>A (p.Gly2371Asp)
|
|
|
|
NM_004369.4(COL6A3):c.7112del (p.Gly2371fs)
|
rs1323862623
|
|
|
NM_004369.4(COL6A3):c.7123G>C (p.Asp2375His)
|
|
|
|
NM_004369.4(COL6A3):c.7125+11T>C
|
|
|
|
NM_004369.4(COL6A3):c.7125+12G>A
|
|
|
|
NM_004369.4(COL6A3):c.7125+15T>C
|
|
|
|
NM_004369.4(COL6A3):c.7125+19G>C
|
|
|
|
NM_004369.4(COL6A3):c.7126-12T>C
|
|
|
|
NM_004369.4(COL6A3):c.7131T>C (p.Cys2377=)
|
|
|
|
NM_004369.4(COL6A3):c.7133C>G (p.Ala2378Gly)
|
|
|
|
NM_004369.4(COL6A3):c.7162+11G>A
|
rs540897134
|
|
|
NM_004369.4(COL6A3):c.7162+1G>A
|
|
|
|
NM_004369.4(COL6A3):c.7162+2dup
|
|
|
|
NM_004369.4(COL6A3):c.7162C>T (p.Pro2388Ser)
|
|
|
|
NM_004369.4(COL6A3):c.7163-5del
|
|
|
|
NM_004369.4(COL6A3):c.716A>G (p.Asp239Gly)
|
rs2078202028
|
|
|
NM_004369.4(COL6A3):c.7174+1del
|
rs2106325341
|
|
|
NM_004369.4(COL6A3):c.7174+5G>A
|
rs777424537
|
|
|
NM_004369.4(COL6A3):c.7174+5G>T
|
|
|
|
NM_004369.4(COL6A3):c.7175-3C>T
|
|
|
|
NM_004369.4(COL6A3):c.7175-6C>G
|
rs199723531
|
|
|
NM_004369.4(COL6A3):c.7175-6C>T
|
|
|
|
NM_004369.4(COL6A3):c.7178C>T (p.Pro2393Leu)
|
|
|
|
NM_004369.4(COL6A3):c.717C>A (p.Asp239Glu)
|
rs2078201961
|
|
|
NM_004369.4(COL6A3):c.7185G>A (p.Glu2395=)
|
|
|
|
NM_004369.4(COL6A3):c.7191C>T (p.Pro2397=)
|
|
|
|
NM_004369.4(COL6A3):c.7208T>C (p.Leu2403Pro)
|
rs2077065222
|
|
|
NM_004369.4(COL6A3):c.7212C>T (p.Ala2404=)
|
rs1162382032
|
|
|
NM_004369.4(COL6A3):c.7217C>T (p.Ala2406Val)
|
rs2077064946
|
|
|
NM_004369.4(COL6A3):c.7231G>A (p.Glu2411Lys)
|
|
|
|
NM_004369.4(COL6A3):c.724G>A (p.Asp242Asn)
|
|
|
|
NM_004369.4(COL6A3):c.7254C>A (p.Phe2418Leu)
|
rs768794876
|
|
|
NM_004369.4(COL6A3):c.7256G>C (p.Gly2419Ala)
|
rs1339553173
|
|
|
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter)
|
rs878854379
|
|
|
NM_004369.4(COL6A3):c.7267G>C (p.Asp2423His)
|
|
|
|
NM_004369.4(COL6A3):c.7289A>G (p.Asn2430Ser)
|
|
|
|
NM_004369.4(COL6A3):c.7298C>T (p.Thr2433Ile)
|
|
|
|
NM_004369.4(COL6A3):c.7300A>T (p.Ile2434Phe)
|
|
|
|
NM_004369.4(COL6A3):c.7310G>A (p.Ser2437Asn)
|
|
|
|
NM_004369.4(COL6A3):c.7314C>G (p.Asn2438Lys)
|
|
|
|
NM_004369.4(COL6A3):c.7324G>T (p.Gly2442Trp)
|
|
|
|
NM_004369.4(COL6A3):c.7326G>A (p.Gly2442=)
|
rs2106325082
|
|
|
NM_004369.4(COL6A3):c.7327G>C (p.Ala2443Pro)
|
|
|
|
NM_004369.4(COL6A3):c.7328C>T (p.Ala2443Val)
|
rs555176397
|
|
|
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp)
|
rs771424958
|
|
|
NM_004369.4(COL6A3):c.7331G>C (p.Arg2444Pro)
|
rs895701604
|
|
|
NM_004369.4(COL6A3):c.7334T>C (p.Val2445Ala)
|
|
|
|
NM_004369.4(COL6A3):c.7339G>A (p.Val2447Met)
|
rs1400293403
|
|
|
NM_004369.4(COL6A3):c.733T>A (p.Phe245Ile)
|
rs2106379268
|
|
|
NM_004369.4(COL6A3):c.7345A>G (p.Thr2449Ala)
|
rs2077061420
|
|
|
NM_004369.4(COL6A3):c.7356C>G (p.Asn2452Lys)
|
rs569662223
|
|
|
NM_004369.4(COL6A3):c.7357G>A (p.Glu2453Lys)
|
rs886044364
|
|
|
NM_004369.4(COL6A3):c.7359G>C (p.Glu2453Asp)
|
rs114199044
|
|
|
NM_004369.4(COL6A3):c.7363A>G (p.Thr2455Ala)
|
rs757349865
|
|
|
NM_004369.4(COL6A3):c.7386C>G (p.Asp2462Glu)
|
rs2077060526
|
|
|
NM_004369.4(COL6A3):c.7405C>T (p.Leu2469Phe)
|
|
|
|
NM_004369.4(COL6A3):c.7407C>T (p.Leu2469=)
|
rs2106324946
|
|
|
NM_004369.4(COL6A3):c.7440G>A (p.Leu2480=)
|
|
|
|
NM_004369.4(COL6A3):c.7446C>T (p.Ser2482=)
|
|
|
|
NM_004369.4(COL6A3):c.7451A>C (p.Gln2484Pro)
|
rs1574948119
|
|
|
NM_004369.4(COL6A3):c.7462G>A (p.Glu2488Lys)
|
rs2106324901
|
|
|
NM_004369.4(COL6A3):c.7463A>G (p.Glu2488Gly)
|
|
|
|
NM_004369.4(COL6A3):c.7466C>T (p.Thr2489Ile)
|
rs2106324896
|
|
|
NM_004369.4(COL6A3):c.746G>A (p.Gly249Glu)
|
|
|
|
NM_004369.4(COL6A3):c.7471A>G (p.Met2491Val)
|
|
|
|
NM_004369.4(COL6A3):c.74C>A (p.Ala25Asp)
|
rs398124134
|
|
|
NM_004369.4(COL6A3):c.7504G>A (p.Val2502Met)
|
rs1446344528
|
|
|
NM_004369.4(COL6A3):c.7515A>T (p.Gly2505=)
|
|
|
|
NM_004369.4(COL6A3):c.751A>G (p.Asn251Asp)
|
|
|
|
NM_004369.4(COL6A3):c.7524G>T (p.Met2508Ile)
|
|
|
|
NM_004369.4(COL6A3):c.752A>C (p.Asn251Thr)
|
|
|
|
NM_004369.4(COL6A3):c.7546A>G (p.Ser2516Gly)
|
rs749651818
|
|
|
NM_004369.4(COL6A3):c.7560A>G (p.Thr2520=)
|
|
|
|
NM_004369.4(COL6A3):c.7573C>G (p.Gln2525Glu)
|
rs2077056501
|
|
|
NM_004369.4(COL6A3):c.7581A>G (p.Arg2527=)
|
rs765129895
|
|
|
NM_004369.4(COL6A3):c.7584G>A (p.Glu2528=)
|
|
|
|
NM_004369.4(COL6A3):c.7589T>C (p.Val2530Ala)
|
|
|
|
NM_004369.4(COL6A3):c.758C>A (p.Thr253Asn)
|
rs201283466
|
|
|
NM_004369.4(COL6A3):c.7595A>G (p.Lys2532Arg)
|
|
|
|
NM_004369.4(COL6A3):c.7597C>A (p.Leu2533Ile)
|
|
|
|
NM_004369.4(COL6A3):c.759_764del (p.Gly254_Ser255del)
|
|
|
|
NM_004369.4(COL6A3):c.7603G>T (p.Asp2535Tyr)
|
rs2106324714
|
|
|
NM_004369.4(COL6A3):c.7608G>T (p.Ala2536=)
|
rs749750613
|
|
|
NM_004369.4(COL6A3):c.761del (p.Gly254fs)
|
rs780921503
|
|
|
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=)
|
rs151079701
|
|
|
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp)
|
rs151079701
|
|
|
NM_004369.4(COL6A3):c.7648C>T (p.Gln2550Ter)
|
rs2106324666
|
|
|
NM_004369.4(COL6A3):c.7650G>A (p.Gln2550=)
|
|
|
|
NM_004369.4(COL6A3):c.7666C>T (p.Gln2556Ter)
|
rs2077054122
|
|
|
NM_004369.4(COL6A3):c.7668+5G>C
|
|
|
|
NM_004369.4(COL6A3):c.7668G>T (p.Gln2556His)
|
rs1553547891
|
|
|
NM_004369.4(COL6A3):c.7669-15T>C
|
|
|
|
NM_004369.4(COL6A3):c.7669-16C>T
|
|
|
|
NM_004369.4(COL6A3):c.7669-3C>T
|
rs763071900
|
|
|
NM_004369.4(COL6A3):c.7673A>G (p.Asn2558Ser)
|
|
|
|
NM_004369.4(COL6A3):c.7682C>T (p.Ala2561Val)
|
|
|
|
NM_004369.4(COL6A3):c.7687G>A (p.Gly2563Arg)
|
rs780964113
|
|
|
NM_004369.4(COL6A3):c.7689G>A (p.Gly2563=)
|
rs1033018695
|
|
|
NM_004369.4(COL6A3):c.7699G>A (p.Val2567Ile)
|
rs1559203170
|
|
|
NM_004369.4(COL6A3):c.7703T>A (p.Leu2568Gln)
|
rs2077000191
|
|
|
NM_004369.4(COL6A3):c.771T>C (p.Asn257=)
|
|
|
|
NM_004369.4(COL6A3):c.7765+15T>C
|
rs777263519
|
|
|
NM_004369.4(COL6A3):c.7765+17A>G
|
rs761150742
|
|
|
NM_004369.4(COL6A3):c.7766-13T>C
|
rs2076980060
|
|
|
NM_004369.4(COL6A3):c.7766-14A>G
|
|
|
|
NM_004369.4(COL6A3):c.7766-20G>A
|
|
|
|
NM_004369.4(COL6A3):c.7766A>G (p.Asp2589Gly)
|
|
|
|
NM_004369.4(COL6A3):c.7767C>A (p.Asp2589Glu)
|
rs1553546746
|
|
|
NM_004369.4(COL6A3):c.7768A>T (p.Ile2590Phe)
|
|
|
|
NM_004369.4(COL6A3):c.7770C>T (p.Ile2590=)
|
rs1574940988
|
|
|
NM_004369.4(COL6A3):c.7780G>A (p.Asp2594Asn)
|
|
|
|
NM_004369.4(COL6A3):c.7795T>C (p.Phe2599Leu)
|
|
|
|
NM_004369.4(COL6A3):c.7796_7797del (p.Phe2599fs)
|
rs886042623
|
|
|
NM_004369.4(COL6A3):c.77A>G (p.Gln26Arg)
|
rs1381568881
|
|
|
NM_004369.4(COL6A3):c.7808G>A (p.Arg2603Lys)
|
|
|
|
NM_004369.4(COL6A3):c.7808G>C (p.Arg2603Thr)
|
|
|
|
NM_004369.4(COL6A3):c.7810C>T (p.Pro2604Ser)
|
|
|
|
NM_004369.4(COL6A3):c.7819A>G (p.Arg2607Gly)
|
rs984056484
|
|
|
NM_004369.4(COL6A3):c.7825A>C (p.Arg2609=)
|
|
|
|
NM_004369.4(COL6A3):c.7832C>A (p.Ala2611Glu)
|
rs114806654
|
|
|
NM_004369.4(COL6A3):c.7833G>T (p.Ala2611=)
|
rs535306425
|
|
|
NM_004369.4(COL6A3):c.7843G>A (p.Asp2615Asn)
|
rs145884404
|
|
|
NM_004369.4(COL6A3):c.7843G>T (p.Asp2615Tyr)
|
|
|
|
NM_004369.4(COL6A3):c.7848G>A (p.Val2616=)
|
|
|
|
NM_004369.4(COL6A3):c.7850A>G (p.Asp2617Gly)
|
|
|
|
NM_004369.4(COL6A3):c.7851C>G (p.Asp2617Glu)
|
|
|
|
NM_004369.4(COL6A3):c.7851C>T (p.Asp2617=)
|
rs1235022762
|
|
|
NM_004369.4(COL6A3):c.7854C>T (p.Ile2618=)
|
|
|
|
NM_004369.4(COL6A3):c.7882G>A (p.Glu2628Lys)
|
|
|
|
NM_004369.4(COL6A3):c.7896G>C (p.Leu2632=)
|
rs1378457056
|
|
|
NM_004369.4(COL6A3):c.7898T>G (p.Phe2633Cys)
|
|
|
|
NM_004369.4(COL6A3):c.7901A>G (p.Gln2634Arg)
|
|
|
|
NM_004369.4(COL6A3):c.7911G>A (p.Glu2637=)
|
|
|
|
NM_004369.4(COL6A3):c.7913T>C (p.Met2638Thr)
|
rs2106320038
|
|
|
NM_004369.4(COL6A3):c.7917G>A (p.Lys2639=)
|
|
|
|
NM_004369.4(COL6A3):c.7926A>T (p.Ile2642=)
|
rs2076975766
|
|
|
NM_004369.4(COL6A3):c.7929G>T (p.Ala2643=)
|
|
|
|
NM_004369.4(COL6A3):c.792C>T (p.Phe264=)
|
rs2106379168
|
|
|
NM_004369.4(COL6A3):c.792_795del (p.Phe264fs)
|
|
|
|
NM_004369.4(COL6A3):c.7936G>C (p.Val2646Leu)
|
rs1419214464
|
|
|
NM_004369.4(COL6A3):c.7948G>A (p.Asp2650Asn)
|
rs890268146
|
|
|
NM_004369.4(COL6A3):c.7960G>A (p.Asp2654Asn)
|
|
|
|
NM_004369.4(COL6A3):c.7969G>C (p.Ala2657Pro)
|
rs1192265506
|
|
|
NM_004369.4(COL6A3):c.7979A>G (p.His2660Arg)
|
|
|
|
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=)
|
rs375222168
|
|
|
NM_004369.4(COL6A3):c.7993G>A (p.Ala2665Thr)
|
rs1559201034
|
|
|
NM_004369.4(COL6A3):c.7995A>T (p.Ala2665=)
|
rs80193928
|
|
|
NM_004369.4(COL6A3):c.7996G>A (p.Val2666Ile)
|
|
|
|
NM_004369.4(COL6A3):c.8014T>G (p.Ser2672Ala)
|
|
|
|
NM_004369.4(COL6A3):c.8023G>A (p.Val2675Met)
|
|
|
|
NM_004369.4(COL6A3):c.8031T>C (p.Asn2677=)
|
|
|
|
NM_004369.4(COL6A3):c.8045C>G (p.Pro2682Arg)
|
rs761740861
|
|
|
NM_004369.4(COL6A3):c.8045C>T (p.Pro2682Leu)
|
rs761740861
|
|
|
NM_004369.4(COL6A3):c.8050A>C (p.Lys2684Gln)
|
rs886055803
|
|
|
NM_004369.4(COL6A3):c.8055G>T (p.Val2685=)
|
|
|
|
NM_004369.4(COL6A3):c.8063C>T (p.Ser2688Phe)
|
|
|
|
NM_004369.4(COL6A3):c.8075A>G (p.Tyr2692Cys)
|
|
|
|
NM_004369.4(COL6A3):c.8082C>A (p.Ser2694=)
|
|
|
|
NM_004369.4(COL6A3):c.8088G>A (p.Glu2696=)
|
|
|
|
NM_004369.4(COL6A3):c.8091G>A (p.Lys2697=)
|
rs775318733
|
|
|
NM_004369.4(COL6A3):c.80A>G (p.Gln27Arg)
|
|
|
|
NM_004369.4(COL6A3):c.8112G>A (p.Arg2704=)
|
|
|
|
NM_004369.4(COL6A3):c.8114G>T (p.Gly2705Val)
|
rs957705259
|
|
|
NM_004369.4(COL6A3):c.8127G>T (p.Leu2709Phe)
|
rs1031349800
|
|
|
NM_004369.4(COL6A3):c.8148C>A (p.Gly2716=)
|
|
|
|
NM_004369.4(COL6A3):c.8150G>A (p.Ser2717Asn)
|
rs763974888
|
|
|
NM_004369.4(COL6A3):c.8150G>C (p.Ser2717Thr)
|
rs763974888
|
|
|
NM_004369.4(COL6A3):c.8156T>C (p.Ile2719Thr)
|
|
|
|
NM_004369.4(COL6A3):c.8163C>T (p.Tyr2721=)
|
|
|
|
NM_004369.4(COL6A3):c.816C>T (p.Leu272=)
|
|
|
|
NM_004369.4(COL6A3):c.8196C>G (p.Asn2732Lys)
|
|
|
|
NM_004369.4(COL6A3):c.819A>G (p.Pro273=)
|
rs2106379131
|
|
|
NM_004369.4(COL6A3):c.81G>A (p.Gln27=)
|
|
|
|
NM_004369.4(COL6A3):c.8200C>T (p.Arg2734Trp)
|
rs756868781
|
|
|
NM_004369.4(COL6A3):c.8208G>T (p.Leu2736=)
|
rs2106319581
|
|
|
NM_004369.4(COL6A3):c.821T>C (p.Ile274Thr)
|
|
|
|
NM_004369.4(COL6A3):c.8221C>T (p.Leu2741=)
|
|
|
|
NM_004369.4(COL6A3):c.8224A>C (p.Met2742Leu)
|
|
|
|
NM_004369.4(COL6A3):c.8235C>A (p.Gly2745=)
|
|
|
|
NM_004369.4(COL6A3):c.8235C>T (p.Gly2745=)
|
rs534728020
|
|
|
NM_004369.4(COL6A3):c.8257G>A (p.Glu2753Lys)
|
rs144130137
|
|
|
NM_004369.4(COL6A3):c.8257G>C (p.Glu2753Gln)
|
|
|
|
NM_004369.4(COL6A3):c.8264C>T (p.Ala2755Val)
|
rs770586429
|
|
|
NM_004369.4(COL6A3):c.8267A>C (p.Gln2756Pro)
|
rs2076967534
|
|
|
NM_004369.4(COL6A3):c.8281C>T (p.Gln2761Ter)
|
rs2076967147
|
|
|
NM_004369.4(COL6A3):c.8308G>A (p.Val2770Met)
|
rs886044644
|
|
|
NM_004369.4(COL6A3):c.8310G>C (p.Val2770=)
|
rs766217603
|
|
|
NM_004369.4(COL6A3):c.8319C>T (p.Gly2773=)
|
rs1453228535
|
|
|
NM_004369.4(COL6A3):c.8349A>G (p.Val2783=)
|
|
|
|
NM_004369.4(COL6A3):c.8351A>T (p.Tyr2784Phe)
|
rs2106319405
|
|
|
NM_004369.4(COL6A3):c.8359G>T (p.Ala2787Ser)
|
rs763395740
|
|
|
NM_004369.4(COL6A3):c.837C>A (p.Ile279=)
|
|
|
|
NM_004369.4(COL6A3):c.8386A>G (p.Lys2796Glu)
|
rs2106319353
|
|
|
NM_004369.4(COL6A3):c.838C>G (p.Arg280Gly)
|
|
|
|
NM_004369.4(COL6A3):c.8394G>C (p.Val2798=)
|
rs780134165
|
|
|
NM_004369.4(COL6A3):c.839G>A (p.Arg280Gln)
|
rs370246962
|
|
|
NM_004369.4(COL6A3):c.8407G>A (p.Glu2803Lys)
|
|
|
|
NM_004369.4(COL6A3):c.8421G>A (p.Glu2807=)
|
rs753264980
|
|
|
NM_004369.4(COL6A3):c.8430dup (p.Arg2811fs)
|
|
|
|
NM_004369.4(COL6A3):c.8440A>T (p.Arg2814Trp)
|
rs1553546042
|
|
|
NM_004369.4(COL6A3):c.8449C>T (p.Pro2817Ser)
|
|
|
|
NM_004369.4(COL6A3):c.8450C>T (p.Pro2817Leu)
|
|
|
|
NM_004369.4(COL6A3):c.8460C>T (p.Val2820=)
|
|
|
|
NM_004369.4(COL6A3):c.8464+7C>T
|
|
|
|
NM_004369.4(COL6A3):c.8465-18T>C
|
rs1318549888
|
|
|
NM_004369.4(COL6A3):c.8465-7T>A
|
rs1574936670
|
|
|
NM_004369.4(COL6A3):c.8465-7del
|
rs111494366
|
|
|
NM_004369.4(COL6A3):c.8465-7dup
|
rs111494366
|
|
|
NM_004369.4(COL6A3):c.8465-9T>C
|
|
|
|
NM_004369.4(COL6A3):c.8479T>A (p.Tyr2827Asn)
|
|
|
|
NM_004369.4(COL6A3):c.847G>C (p.Val283Leu)
|
|
|
|
NM_004369.4(COL6A3):c.8490A>G (p.Pro2830=)
|
|
|
|
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His)
|
rs36104025
|
|
|
NM_004369.4(COL6A3):c.8491G>T (p.Asp2831Tyr)
|
|
|
|
NM_004369.4(COL6A3):c.8500A>C (p.Lys2834Gln)
|
|
|
|
NM_004369.4(COL6A3):c.8566G>A (p.Val2856Ile)
|
|
|
|
NM_004369.4(COL6A3):c.8567+20G>A
|
|
|
|
NM_004369.4(COL6A3):c.8568-10G>T
|
|
|
|
NM_004369.4(COL6A3):c.8568-12T>A
|
|
|
|
NM_004369.4(COL6A3):c.8571T>C (p.Asn2857=)
|
|
|
|
NM_004369.4(COL6A3):c.8576C>T (p.Pro2859Leu)
|
|
|
|
NM_004369.4(COL6A3):c.8588C>T (p.Thr2863Ile)
|
|
|
|
NM_004369.4(COL6A3):c.8592A>G (p.Ser2864=)
|
|
|
|
NM_004369.4(COL6A3):c.8598T>C (p.Pro2866=)
|
|
|
|
NM_004369.4(COL6A3):c.861C>T (p.Ser287=)
|
rs756380512
|
|
|
NM_004369.4(COL6A3):c.8626C>G (p.Pro2876Ala)
|
|
|
|
NM_004369.4(COL6A3):c.862G>C (p.Asp288His)
|
|
|
|
NM_004369.4(COL6A3):c.8634T>A (p.Thr2878=)
|
rs768887961
|
|
|
NM_004369.4(COL6A3):c.8634_8651del (p.2875KPVTTT[1])
|
rs780678900
|
|
|
NM_004369.4(COL6A3):c.8637_8654dup (p.2875KPVTTT[3])
|
rs1167608831
|
|
|
NM_004369.4(COL6A3):c.8640G>A (p.Thr2880=)
|
|
|
|
NM_004369.4(COL6A3):c.8640G>C (p.Thr2880=)
|
rs746309230
|
|
|
NM_004369.4(COL6A3):c.8644C>T (p.Pro2882Ser)
|
rs1553544899
|
|
|
NM_004369.4(COL6A3):c.865G>T (p.Glu289Ter)
|
rs767654047
|
|
|
NM_004369.4(COL6A3):c.8667T>C (p.Pro2889=)
|
|
|
|
NM_004369.4(COL6A3):c.8670A>G (p.Val2890=)
|
rs551264358
|
|
|
NM_004369.4(COL6A3):c.8670_8690del (p.2878TTTKPVT[2])
|
rs746284792
|
|
|
NM_004369.4(COL6A3):c.8670_8690dup (p.Thr2898_Ile2899insThrThrThrLysProValThr)
|
|
|
|
NM_004369.4(COL6A3):c.8676C>T (p.Thr2892=)
|
|
|
|
NM_004369.4(COL6A3):c.8698A>C (p.Ile2900Leu)
|
rs1553544853
|
|
|
NM_004369.4(COL6A3):c.8709A>G (p.Pro2903=)
|
rs770062985
|
|
|
NM_004369.4(COL6A3):c.8725G>T (p.Ala2909Ser)
|
|
|
|
NM_004369.4(COL6A3):c.8736G>A (p.Pro2912=)
|
|
|
|
NM_004369.4(COL6A3):c.8738C>A (p.Ala2913Asp)
|
|
|
|
NM_004369.4(COL6A3):c.8740C>T (p.Pro2914Ser)
|
|
|
|
NM_004369.4(COL6A3):c.8750C>A (p.Pro2917His)
|
rs1559194476
|
|
|
NM_004369.4(COL6A3):c.8754G>A (p.Val2918=)
|
rs1332418093
|
|
|
NM_004369.4(COL6A3):c.8758_8772dup (p.Ala2924_Thr2925insAlaLysProValAla)
|
|
|
|
NM_004369.4(COL6A3):c.8759C>A (p.Ala2920Asp)
|
rs1455583519
|
|
|
NM_004369.4(COL6A3):c.8764C>T (p.Pro2922Ser)
|
|
|
|
NM_004369.4(COL6A3):c.8773A>G (p.Thr2925Ala)
|
|
|
|
NM_004369.4(COL6A3):c.8779_8780delinsTC (p.Met2927Ser)
|
rs2106314453
|
|
|
NM_004369.4(COL6A3):c.877A>G (p.Met293Val)
|
|
|
|
NM_004369.4(COL6A3):c.8780_8781delinsCT (p.Met2927Thr)
|
rs2106314441
|
|
|
NM_004369.4(COL6A3):c.8780_8781inv (p.Met2927Thr)
|
|
|
|
NM_004369.4(COL6A3):c.8784C>T (p.Ala2928=)
|
|
|
|
NM_004369.4(COL6A3):c.8789T>C (p.Val2930Ala)
|
rs1700542767
|
|
|
NM_004369.4(COL6A3):c.878T>C (p.Met293Thr)
|
rs1361910233
|
|
|
NM_004369.4(COL6A3):c.8798C>A (p.Pro2933Gln)
|
|
|
|
NM_004369.4(COL6A3):c.8799A>G (p.Pro2933=)
|
rs139811166
|
|
|
NM_004369.4(COL6A3):c.87A>T (p.Gln29His)
|
rs775946239
|
|
|
NM_004369.4(COL6A3):c.8801T>G (p.Val2934Gly)
|
rs1440572476
|
|
|
NM_004369.4(COL6A3):c.8804C>A (p.Ala2935Glu)
|
rs36020669
|
|
|
NM_004369.4(COL6A3):c.8828A>G (p.Lys2943Arg)
|
rs1700539745
|
|
|
NM_004369.4(COL6A3):c.8847A>G (p.Pro2949=)
|
|
|
|
NM_004369.4(COL6A3):c.8860C>T (p.Pro2954Ser)
|
|
|
|
NM_004369.4(COL6A3):c.8861C>A (p.Pro2954His)
|
|
|
|
NM_004369.4(COL6A3):c.8862C>T (p.Pro2954=)
|
rs2106314283
|
|
|
NM_004369.4(COL6A3):c.8863C>T (p.Pro2955Ser)
|
rs1700538106
|
|
|
NM_004369.4(COL6A3):c.8865_8867del (p.Ala2960del)
|
rs757584445
|
|
|
NM_004369.4(COL6A3):c.8866G>A (p.Ala2956Thr)
|
rs773820329
|
|
|
NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del)
|
rs35879189
|
|
|
NM_004369.4(COL6A3):c.8868TGC[5] (p.Ala2960dup)
|
rs35879189
|
|
|
NM_004369.4(COL6A3):c.8870C>T (p.Ala2957Val)
|
rs1287394484
|
|
|
NM_004369.4(COL6A3):c.8873C>A (p.Ala2958Asp)
|
|
|
|
NM_004369.4(COL6A3):c.8892G>A (p.Ala2964=)
|
rs147324162
|
|
|
NM_004369.4(COL6A3):c.8892G>C (p.Ala2964=)
|
rs147324162
|
|
|
NM_004369.4(COL6A3):c.8895C>T (p.Thr2965=)
|
rs114008087
|
|
|
NM_004369.4(COL6A3):c.8914C>T (p.Pro2972Ser)
|
rs1256198664
|
|
|
NM_004369.4(COL6A3):c.8920G>A (p.Ala2974Thr)
|
rs727502837
|
|
|
NM_004369.4(COL6A3):c.8928_8929insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2976_Pro2977insAlaAlaAlaThrLysProAlaLys)
|
|
|
|
NM_004369.4(COL6A3):c.8931del (p.Ala2978fs)
|
rs1553544667
|
|
|
NM_004369.4(COL6A3):c.8955T>C (p.Thr2985=)
|
|
|
|
NM_004369.4(COL6A3):c.8966-11C>A
|
|
|
|
NM_004369.4(COL6A3):c.8966-13A>G
|
|
|
|
NM_004369.4(COL6A3):c.8966-19G>A
|
|
|
|
NM_004369.4(COL6A3):c.8966-19G>T
|
rs182520636
|
|
|
NM_004369.4(COL6A3):c.8966-3C>T
|
|
|
|
NM_004369.4(COL6A3):c.896A>G (p.Tyr299Cys)
|
|
|
|
NM_004369.4(COL6A3):c.8977C>G (p.Arg2993Gly)
|
|
|
|
NM_004369.4(COL6A3):c.8985C>G (p.Val2995=)
|
rs2106312595
|
|
|
NM_004369.4(COL6A3):c.8987A>G (p.Gln2996Arg)
|
|
|
|
NM_004369.4(COL6A3):c.898T>A (p.Ser300Thr)
|
rs1559270845
|
|
|
NM_004369.4(COL6A3):c.898T>G (p.Ser300Ala)
|
|
|
|
NM_004369.4(COL6A3):c.898_900del (p.Ser300del)
|
rs554176183
|
|
|
NM_004369.4(COL6A3):c.8993T>C (p.Phe2998Ser)
|
rs1187707448
|
|
|
NM_004369.4(COL6A3):c.8997G>A (p.Glu2999=)
|
rs2106312577
|
|
|
NM_004369.4(COL6A3):c.9000A>G (p.Ile3000Met)
|
|
|
|
NM_004369.4(COL6A3):c.9013G>A (p.Ala3005Thr)
|
|
|
|
NM_004369.4(COL6A3):c.9014C>T (p.Ala3005Val)
|
|
|
|
NM_004369.4(COL6A3):c.9031A>G (p.Arg3011Gly)
|
rs565996170
|
|
|
NM_004369.4(COL6A3):c.9045C>G (p.Pro3015=)
|
|
|
|
NM_004369.4(COL6A3):c.9046G>C (p.Gly3016Arg)
|
|
|
|
NM_004369.4(COL6A3):c.9049C>A (p.Pro3017Thr)
|
rs767249760
|
|
|
NM_004369.4(COL6A3):c.904A>G (p.Lys302Glu)
|
|
|
|
NM_004369.4(COL6A3):c.9051T>A (p.Pro3017=)
|
rs1574928802
|
|
|
NM_004369.4(COL6A3):c.9061_9063del (p.Asp3021del)
|
rs756150789
|
|
|
NM_004369.4(COL6A3):c.9076T>C (p.Ser3026Pro)
|
rs1700446197
|
|
|
NM_004369.4(COL6A3):c.9080C>T (p.Ala3027Val)
|
rs1299012840
|
|
|
NM_004369.4(COL6A3):c.9083A>C (p.His3028Pro)
|
|
|
|
NM_004369.4(COL6A3):c.9083A>G (p.His3028Arg)
|
|
|
|
NM_004369.4(COL6A3):c.9087T>A (p.Asp3029Glu)
|
rs1553544136
|
|
|
NM_004369.4(COL6A3):c.9093C>T (p.Ser3031=)
|
|
|
|
NM_004369.4(COL6A3):c.9096G>T (p.Leu3032=)
|
rs147327623
|
|
|
NM_004369.4(COL6A3):c.909C>T (p.Ala303=)
|
|
|
|
NM_004369.4(COL6A3):c.91+15C>A
|
rs117521066
|
|
|
NM_004369.4(COL6A3):c.91+4A>G
|
|
|
|
NM_004369.4(COL6A3):c.9127C>T (p.Arg3043Cys)
|
|
|
|
NM_004369.4(COL6A3):c.9133A>G (p.Ile3045Val)
|
|
|
|
NM_004369.4(COL6A3):c.9137G>T (p.Gly3046Val)
|
|
|
|
NM_004369.4(COL6A3):c.9138A>G (p.Gly3046=)
|
|
|
|
NM_004369.4(COL6A3):c.913G>A (p.Val305Ile)
|
rs564041158
|
|
|
NM_004369.4(COL6A3):c.913G>T (p.Val305Phe)
|
|
|
|
NM_004369.4(COL6A3):c.9160_9163dup (p.His3055fs)
|
rs2106312317
|
|
|
NM_004369.4(COL6A3):c.9175G>T (p.Val3059Phe)
|
|
|
|
NM_004369.4(COL6A3):c.9182A>C (p.Tyr3061Ser)
|
|
|
|
NM_004369.4(COL6A3):c.9188G>A (p.Arg3063Lys)
|
|
|
|
NM_004369.4(COL6A3):c.9192T>G (p.Ser3064=)
|
rs1253951128
|
|
|
NM_004369.4(COL6A3):c.92-19C>A
|
|
|
|
NM_004369.4(COL6A3):c.92-19C>G
|
|
|
|
NM_004369.4(COL6A3):c.92-5dup
|
rs1476890625
|
|
|
NM_004369.4(COL6A3):c.92-6_92-5del
|
rs1476890625
|
|
|
NM_004369.4(COL6A3):c.9203C>T (p.Ala3068Val)
|
|
|
|
NM_004369.4(COL6A3):c.9210C>T (p.Tyr3070=)
|
rs1363089686
|
|
|
NM_004369.4(COL6A3):c.9214G>A (p.Gly3072Arg)
|
|
|
|
NM_004369.4(COL6A3):c.9218G>A (p.Ser3073Asn)
|
|
|
|
NM_004369.4(COL6A3):c.9229+4_9229+7del
|
|
|
|
NM_004369.4(COL6A3):c.9230-19A>G
|
|
|
|
NM_004369.4(COL6A3):c.9230-1G>A
|
|
|
|
NM_004369.4(COL6A3):c.9230-20del
|
|
|
|
NM_004369.4(COL6A3):c.9230-4A>G
|
rs1559190144
|
|
|
NM_004369.4(COL6A3):c.9231G>T (p.Lys3077Asn)
|
|
|
|
NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser)
|
rs1700374826
|
|
|
NM_004369.4(COL6A3):c.9245C>T (p.Pro3082Leu)
|
rs182976977
|
|
|
NM_004369.4(COL6A3):c.9247C>T (p.Pro3083Ser)
|
|
|
|
NM_004369.4(COL6A3):c.9248C>T (p.Pro3083Leu)
|
|
|
|
NM_004369.4(COL6A3):c.9249T>A (p.Pro3083=)
|
rs77368269
|
|
|
NM_004369.4(COL6A3):c.927G>A (p.Val309=)
|
|
|
|
NM_004369.4(COL6A3):c.9281C>T (p.Thr3094Ile)
|
rs1700373011
|
|
|
NM_004369.4(COL6A3):c.9303A>G (p.Thr3101=)
|
rs957608376
|
|
|
NM_004369.4(COL6A3):c.9308C>A (p.Pro3103Gln)
|
rs1288932366
|
|
|
NM_004369.4(COL6A3):c.9310T>C (p.Leu3104=)
|
|
|
|
NM_004369.4(COL6A3):c.9326C>T (p.Thr3109Ile)
|
|
|
|
NM_004369.4(COL6A3):c.9328+3G>A
|
|
|
|
NM_004369.4(COL6A3):c.9328+8G>A
|
|
|
|
NM_004369.4(COL6A3):c.9329-14T>A
|
|
|
|
NM_004369.4(COL6A3):c.9329-18C>A
|
|
|
|
NM_004369.4(COL6A3):c.9329-4A>G
|
|
|
|
NM_004369.4(COL6A3):c.9329-7A>T
|
|
|
|
NM_004369.4(COL6A3):c.9329A>C (p.Asp3110Ala)
|
|
|
|
NM_004369.4(COL6A3):c.932C>T (p.Ala311Val)
|
rs781284019
|
|
|
NM_004369.4(COL6A3):c.9334T>C (p.Cys3112Arg)
|
|
|
|
NM_004369.4(COL6A3):c.9358A>G (p.Thr3120Ala)
|
|
|
|
NM_004369.4(COL6A3):c.937G>A (p.Gly313Arg)
|
|
|
|
NM_004369.4(COL6A3):c.9384G>A (p.Trp3128Ter)
|
rs1405374416
|
|
|
NM_004369.4(COL6A3):c.9391G>A (p.Asp3131Asn)
|
|
|
|
NM_004369.4(COL6A3):c.9401C>T (p.Thr3134Ile)
|
|
|
|
NM_004369.4(COL6A3):c.9407G>A (p.Ser3136Asn)
|
rs759514583
|
|
|
NM_004369.4(COL6A3):c.9416G>A (p.Arg3139Lys)
|
rs1699900051
|
|
|
NM_004369.4(COL6A3):c.9418T>G (p.Phe3140Val)
|
rs886042448
|
|
|
NM_004369.4(COL6A3):c.9435T>C (p.Cys3145=)
|
rs1446752971
|
|
|
NM_004369.4(COL6A3):c.9441A>G (p.Gly3147=)
|
|
|
|
NM_004369.4(COL6A3):c.9449A>G (p.Asn3150Ser)
|
|
|
|
NM_004369.4(COL6A3):c.9450C>A (p.Asn3150Lys)
|
|
|
|
NM_004369.4(COL6A3):c.9458G>T (p.Gly3153Val)
|
rs1553541451
|
|
|
NM_004369.4(COL6A3):c.9465G>C (p.Gln3155His)
|
|
|
|
NM_004369.4(COL6A3):c.9472_9476dup (p.Glu3159fs)
|
|
|
|
NM_004369.4(COL6A3):c.9480G>A (p.Lys3160=)
|
|
|
|
NM_004369.4(COL6A3):c.9481del (p.Val3161fs)
|
|
|
|
NM_004369.4(COL6A3):c.9487G>A (p.Ala3163Thr)
|
rs553486570
|
|
|
NM_004369.4(COL6A3):c.9487G>C (p.Ala3163Pro)
|
rs553486570
|
|
|
NM_004369.4(COL6A3):c.9489T>C (p.Ala3163=)
|
rs367728719
|
|
|
NM_004369.4(COL6A3):c.9493+14C>T
|
|
|
|
NM_004369.4(COL6A3):c.9493+16T>C
|
|
|
|
NM_004369.4(COL6A3):c.9494-12C>G
|
rs957142857
|
|
|
NM_004369.4(COL6A3):c.9494-15TC[2]
|
|
|
|
NM_004369.4(COL6A3):c.9494-16C>G
|
|
|
|
NM_004369.4(COL6A3):c.9494-17C>A
|
|
|
|
NM_004369.4(COL6A3):c.9494-5C>T
|
rs886043555
|
|
|
NM_004369.4(COL6A3):c.9494-6G>A
|
|
|
|
NM_004369.4(COL6A3):c.9494-6G>T
|
rs367899223
|
|
|
NM_004369.4(COL6A3):c.9494-9G>A
|
|
|
|
NM_004369.4(COL6A3):c.9494T>G (p.Val3165Gly)
|
|
|
|
NM_004369.4(COL6A3):c.9504A>G (p.Lys3168=)
|
rs1008454322
|
|
|
NM_004369.4(COL6A3):c.9523A>C (p.Met3175Leu)
|
|
|
|
NM_004369.4(COL6A3):c.9529A>C (p.Thr3177Pro)
|
rs2106297671
|
|
|
NM_004369.4(COL6A3):c.964A>G (p.Ile322Val)
|
|
|
|
NM_004369.4(COL6A3):c.965T>A (p.Ile322Asn)
|
rs2078191004
|
|
|
NM_004369.4(COL6A3):c.966C>A (p.Ile322=)
|
rs369160080
|
|
|
NM_004369.4(COL6A3):c.979G>T (p.Asp327Tyr)
|
rs2078190150
|
|
|
NM_004369.4(COL6A3):c.985G>A (p.Val329Met)
|
rs542283928
|
|
|
NM_004369.4(COL6A3):c.985G>C (p.Val329Leu)
|
|
|
|
NM_004369.4(COL6A3):c.993G>C (p.Glu331Asp)
|
|
|
|
NM_004370.5(COL12A1):c.7356del
|
rs1473576494
|
|
|
NM_004370.6(COL12A1):c.1023T>G (p.Ile341Met)
|
|
|
|
NM_004370.6(COL12A1):c.1024G>A (p.Ala342Thr)
|
rs2149467566
|
|
|
NM_004370.6(COL12A1):c.1028T>C (p.Met343Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1043A>T (p.Lys348Ile)
|
|
|
|
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His)
|
rs1769481285
|
|
|
NM_004370.6(COL12A1):c.1047T>C (p.Tyr349=)
|
|
|
|
NM_004370.6(COL12A1):c.1048G>A (p.Val350Ile)
|
|
|
|
NM_004370.6(COL12A1):c.1053G>T (p.Lys351Asn)
|
rs1562297952
|
|
|
NM_004370.6(COL12A1):c.1059T>C (p.Asn353=)
|
|
|
|
NM_004370.6(COL12A1):c.106A>G (p.Ile36Val)
|
|
|
|
NM_004370.6(COL12A1):c.1077T>A (p.Ser359Arg)
|
|
|
|
NM_004370.6(COL12A1):c.1081G>A (p.Val361Met)
|
rs2149467444
|
|
|
NM_004370.6(COL12A1):c.108A>C (p.Ile36=)
|
|
|
|
NM_004370.6(COL12A1):c.1095A>G (p.Lys365=)
|
rs2149467427
|
|
|
NM_004370.6(COL12A1):c.10A>C (p.Arg4=)
|
|
|
|
NM_004370.6(COL12A1):c.1101C>A (p.Ile367=)
|
|
|
|
NM_004370.6(COL12A1):c.1102C>T (p.Leu368Phe)
|
|
|
|
NM_004370.6(COL12A1):c.1106C>T (p.Thr369Ile)
|
rs1253680957
|
|
|
NM_004370.6(COL12A1):c.1109C>A (p.Pro370Gln)
|
rs2149467365
|
|
|
NM_004370.6(COL12A1):c.1110A>G (p.Pro370=)
|
rs575544133
|
|
|
NM_004370.6(COL12A1):c.1112T>G (p.Met371Arg)
|
|
|
|
NM_004370.6(COL12A1):c.1127G>A (p.Arg376Gln)
|
|
|
|
NM_004370.6(COL12A1):c.1131G>A (p.Gln377=)
|
|
|
|
NM_004370.6(COL12A1):c.1135G>A (p.Ala379Thr)
|
rs779083996
|
|
|
NM_004370.6(COL12A1):c.1138C>G (p.Leu380Val)
|
|
|
|
NM_004370.6(COL12A1):c.1141A>G (p.Ser381Gly)
|
|
|
|
NM_004370.6(COL12A1):c.1143T>C (p.Ser381=)
|
rs2149467274
|
|
|
NM_004370.6(COL12A1):c.1149G>A (p.Gly383=)
|
|
|
|
NM_004370.6(COL12A1):c.1151C>T (p.Pro384Leu)
|
|
|
|
NM_004370.6(COL12A1):c.1153del (p.Gln385fs)
|
|
|
|
NM_004370.6(COL12A1):c.1159A>G (p.Thr387Ala)
|
rs1582198440
|
|
|
NM_004370.6(COL12A1):c.1161C>G (p.Thr387=)
|
rs2149467222
|
|
|
NM_004370.6(COL12A1):c.1163C>A (p.Thr388Lys)
|
rs201657256
|
|
|
NM_004370.6(COL12A1):c.1168A>C (p.Ser390Arg)
|
|
|
|
NM_004370.6(COL12A1):c.1170T>C (p.Ser390=)
|
|
|
|
NM_004370.6(COL12A1):c.1178A>T (p.Asp393Val)
|
rs1032545730
|
|
|
NM_004370.6(COL12A1):c.1182C>T (p.Leu394=)
|
rs763051678
|
|
|
NM_004370.6(COL12A1):c.1201C>T (p.Gln401Ter)
|
rs2149467117
|
|
|
NM_004370.6(COL12A1):c.1204A>G (p.Ile402Val)
|
rs1582198261
|
|
|
NM_004370.6(COL12A1):c.1205T>A (p.Ile402Asn)
|
|
|
|
NM_004370.6(COL12A1):c.1223A>C (p.Lys408Thr)
|
rs1325717704
|
|
|
NM_004370.6(COL12A1):c.1225G>C (p.Gly409Arg)
|
|
|
|
NM_004370.6(COL12A1):c.1226G>A (p.Gly409Glu)
|
rs775157077
|
|
|
NM_004370.6(COL12A1):c.1243C>T (p.Pro415Ser)
|
|
|
|
NM_004370.6(COL12A1):c.1248T>C (p.Ile416=)
|
rs2149467023
|
|
|
NM_004370.6(COL12A1):c.125A>G (p.His42Arg)
|
rs760445921
|
|
|
NM_004370.6(COL12A1):c.1263G>C (p.Lys421Asn)
|
rs2149466995
|
|
|
NM_004370.6(COL12A1):c.1273A>G (p.Met425Val)
|
rs2149466974
|
|
|
NM_004370.6(COL12A1):c.1276A>G (p.Lys426Glu)
|
rs1562297194
|
|
|
NM_004370.6(COL12A1):c.1278A>C (p.Lys426Asn)
|
rs1769466109
|
|
|
NM_004370.6(COL12A1):c.1288+12T>G
|
|
|
|
NM_004370.6(COL12A1):c.1288+15G>A
|
|
|
|
NM_004370.6(COL12A1):c.1288+18T>C
|
|
|
|
NM_004370.6(COL12A1):c.1289-13T>G
|
|
|
|
NM_004370.6(COL12A1):c.1289-15T>C
|
rs2149466614
|
|
|
NM_004370.6(COL12A1):c.1289-17T>A
|
|
|
|
NM_004370.6(COL12A1):c.1289-19A>G
|
|
|
|
NM_004370.6(COL12A1):c.1292G>A (p.Cys431Tyr)
|
|
|
|
NM_004370.6(COL12A1):c.1295C>T (p.Ser432Leu)
|
rs1769450841
|
|
|
NM_004370.6(COL12A1):c.1296A>G (p.Ser432=)
|
|
|
|
NM_004370.6(COL12A1):c.1303G>A (p.Val435Met)
|
rs1769449076
|
|
|
NM_004370.6(COL12A1):c.1317C>T (p.Ala439=)
|
|
|
|
NM_004370.6(COL12A1):c.1323T>C (p.Ile441=)
|
|
|
|
NM_004370.6(COL12A1):c.1337A>T (p.Asp446Val)
|
|
|
|
NM_004370.6(COL12A1):c.1347T>C (p.Tyr449=)
|
|
|
|
NM_004370.6(COL12A1):c.1356G>T (p.Gly452=)
|
rs372285460
|
|
|
NM_004370.6(COL12A1):c.1368T>A (p.Phe456Leu)
|
|
|
|
NM_004370.6(COL12A1):c.136G>A (p.Ala46Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1372A>C (p.Lys458Gln)
|
|
|
|
NM_004370.6(COL12A1):c.1381G>A (p.Ala461Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1383C>G (p.Ala461=)
|
|
|
|
NM_004370.6(COL12A1):c.1391A>G (p.Glu464Gly)
|
|
|
|
NM_004370.6(COL12A1):c.1398T>A (p.Leu466=)
|
rs2149466384
|
|
|
NM_004370.6(COL12A1):c.1414A>G (p.Ile472Val)
|
rs2149466346
|
|
|
NM_004370.6(COL12A1):c.141A>G (p.Lys47=)
|
rs2149482731
|
|
|
NM_004370.6(COL12A1):c.1425T>A (p.Asn475Lys)
|
|
|
|
NM_004370.6(COL12A1):c.1427G>C (p.Arg476Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1434G>A (p.Gln478=)
|
rs762385473
|
|
|
NM_004370.6(COL12A1):c.1441C>T (p.Leu481Phe)
|
|
|
|
NM_004370.6(COL12A1):c.1449A>G (p.Gln483=)
|
rs533536940
|
|
|
NM_004370.6(COL12A1):c.1467T>G (p.His489Gln)
|
rs779234808
|
|
|
NM_004370.6(COL12A1):c.1489T>C (p.Phe497Leu)
|
|
|
|
NM_004370.6(COL12A1):c.1489T>G (p.Phe497Val)
|
rs1769434215
|
|
|
NM_004370.6(COL12A1):c.1491C>T (p.Phe497=)
|
|
|
|
NM_004370.6(COL12A1):c.1494C>A (p.Thr498=)
|
rs777711709
|
|
|
NM_004370.6(COL12A1):c.1494C>G (p.Thr498=)
|
rs777711709
|
|
|
NM_004370.6(COL12A1):c.1494C>T (p.Thr498=)
|
|
|
|
NM_004370.6(COL12A1):c.1508T>C (p.Ile503Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1519A>G (p.Ile507Val)
|
|
|
|
NM_004370.6(COL12A1):c.1524C>A (p.Asn508Lys)
|
rs2149466133
|
|
|
NM_004370.6(COL12A1):c.1525del (p.Thr509fs)
|
|
|
|
NM_004370.6(COL12A1):c.1531C>T (p.Pro511Ser)
|
|
|
|
NM_004370.6(COL12A1):c.1543G>A (p.Gly515Arg)
|
rs2149466076
|
|
|
NM_004370.6(COL12A1):c.1545A>G (p.Gly515=)
|
|
|
|
NM_004370.6(COL12A1):c.1545A>T (p.Gly515=)
|
|
|
|
NM_004370.6(COL12A1):c.1553A>C (p.Asn518Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1555A>G (p.Thr519Ala)
|
|
|
|
NM_004370.6(COL12A1):c.1557T>A (p.Thr519=)
|
|
|
|
NM_004370.6(COL12A1):c.1559G>C (p.Gly520Ala)
|
|
|
|
NM_004370.6(COL12A1):c.155T>C (p.Ile52Thr)
|
rs1770137078
|
|
|
NM_004370.6(COL12A1):c.1560C>T (p.Gly520=)
|
rs2149466030
|
|
|
NM_004370.6(COL12A1):c.1561A>G (p.Lys521Glu)
|
rs774728500
|
|
|
NM_004370.6(COL12A1):c.1566A>G (p.Ala522=)
|
|
|
|
NM_004370.6(COL12A1):c.1569G>T (p.Met523Ile)
|
|
|
|
NM_004370.6(COL12A1):c.1581A>G (p.Arg527=)
|
rs1003898953
|
|
|
NM_004370.6(COL12A1):c.1594G>A (p.Val532Met)
|
|
|
|
NM_004370.6(COL12A1):c.1599T>C (p.Pro533=)
|
|
|
|
NM_004370.6(COL12A1):c.15T>C (p.Leu5=)
|
|
|
|
NM_004370.6(COL12A1):c.1601G>A (p.Ser534Asn)
|
rs2149465941
|
|
|
NM_004370.6(COL12A1):c.1606G>A (p.Gly536Arg)
|
|
|
|
NM_004370.6(COL12A1):c.1608A>T (p.Gly536=)
|
|
|
|
NM_004370.6(COL12A1):c.1619A>G (p.Asn540Ser)
|
|
|
|
NM_004370.6(COL12A1):c.1621G>A (p.Val541Met)
|
rs1769421436
|
|
|
NM_004370.6(COL12A1):c.1631T>A (p.Val544Asp)
|
rs1769421051
|
|
|
NM_004370.6(COL12A1):c.1639C>T (p.Leu547Phe)
|
|
|
|
NM_004370.6(COL12A1):c.163T>C (p.Tyr55His)
|
|
|
|
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met)
|
rs557804521
|
|
|
NM_004370.6(COL12A1):c.1647G>T (p.Thr549=)
|
rs761187970
|
|
|
NM_004370.6(COL12A1):c.1649A>G (p.Asp550Gly)
|
rs2149465853
|
|
|
NM_004370.6(COL12A1):c.1656A>G (p.Lys552=)
|
rs2149465844
|
|
|
NM_004370.6(COL12A1):c.1659A>G (p.Ser553=)
|
|
|
|
NM_004370.6(COL12A1):c.1672A>G (p.Arg558Gly)
|
rs1002113974
|
|
|
NM_004370.6(COL12A1):c.1673G>C (p.Arg558Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1677T>A (p.Asp559Glu)
|
rs2149465802
|
|
|
NM_004370.6(COL12A1):c.1677T>C (p.Asp559=)
|
rs2149465802
|
|
|
NM_004370.6(COL12A1):c.1678C>T (p.Pro560Ser)
|
rs775466928
|
|
|
NM_004370.6(COL12A1):c.1679C>T (p.Pro560Leu)
|
rs2149465788
|
|
|
NM_004370.6(COL12A1):c.1682C>A (p.Ala561Glu)
|
|
|
|
NM_004370.6(COL12A1):c.1682C>T (p.Ala561Val)
|
rs1344964508
|
|
|
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)
|
|
|
|
NM_004370.6(COL12A1):c.1697del (p.Asn566fs)
|
|
|
|
NM_004370.6(COL12A1):c.1707T>C (p.Val569=)
|
|
|
|
NM_004370.6(COL12A1):c.1717G>A (p.Ala573Thr)
|
|
|
|
NM_004370.6(COL12A1):c.1725T>C (p.Gly575=)
|
|
|
|
NM_004370.6(COL12A1):c.1731G>A (p.Lys577=)
|
|
|
|
NM_004370.6(COL12A1):c.1732G>A (p.Asp578Asn)
|
rs2149465694
|
|
|
NM_004370.6(COL12A1):c.1732G>T (p.Asp578Tyr)
|
rs2149465694
|
|
|
NM_004370.6(COL12A1):c.1736C>T (p.Ala579Val)
|
|
|
|
NM_004370.6(COL12A1):c.173C>G (p.Thr58Arg)
|
|
|
|
NM_004370.6(COL12A1):c.173C>T (p.Thr58Met)
|
rs140583215
|
|
|
NM_004370.6(COL12A1):c.1741C>A (p.Arg581Ser)
|
|
|
|
NM_004370.6(COL12A1):c.1763C>A (p.Ala588Asp)
|
|
|
|
NM_004370.6(COL12A1):c.1764C>T (p.Ala588=)
|
|
|
|
NM_004370.6(COL12A1):c.1768C>T (p.Pro590Ser)
|
|
|
|
NM_004370.6(COL12A1):c.176T>C (p.Val59Ala)
|
rs1770135564
|
|
|
NM_004370.6(COL12A1):c.1779G>C (p.Glu593Asp)
|
|
|
|
NM_004370.6(COL12A1):c.1784A>T (p.His595Leu)
|
|
|
|
NM_004370.6(COL12A1):c.1785T>C (p.His595=)
|
rs2149465524
|
|
|
NM_004370.6(COL12A1):c.1788G>A (p.Val596=)
|
|
|
|
NM_004370.6(COL12A1):c.17C>T (p.Pro6Leu)
|
|
|
|
NM_004370.6(COL12A1):c.1818G>C (p.Gln606His)
|
|
|
|
NM_004370.6(COL12A1):c.1819A>G (p.Arg607Gly)
|
|
|
|
NM_004370.6(COL12A1):c.1832A>G (p.Glu611Gly)
|
|
|
|
NM_004370.6(COL12A1):c.1839A>G (p.Thr613=)
|
|
|
|
NM_004370.6(COL12A1):c.1845T>A (p.Ser615=)
|
rs1484924756
|
|
|
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg)
|
rs779409298
|
|
|
NM_004370.6(COL12A1):c.1860T>C (p.Ile620=)
|
|
|
|
NM_004370.6(COL12A1):c.1868A>G (p.Glu623Gly)
|
rs1356178155
|
|
|
NM_004370.6(COL12A1):c.1881A>G (p.Ile627Met)
|
rs962496340
|
|
|
NM_004370.6(COL12A1):c.188C>G (p.Thr63Arg)
|
|
|
|
NM_004370.6(COL12A1):c.1890A>C (p.Lys630Asn)
|
|
|
|
NM_004370.6(COL12A1):c.1891+13T>C
|
|
|
|
NM_004370.6(COL12A1):c.1891+14G>A
|
|
|
|
NM_004370.6(COL12A1):c.1891+17A>G
|
|
|
|
NM_004370.6(COL12A1):c.1891+4A>C
|
rs148292262
|
|
|
NM_004370.6(COL12A1):c.1891+6T>C
|
|
|
|
NM_004370.6(COL12A1):c.1891G>A (p.Ala631Thr)
|
rs952803259
|
|
|
NM_004370.6(COL12A1):c.1891G>T (p.Ala631Ser)
|
rs952803259
|
|
|
NM_004370.6(COL12A1):c.1892-14_1892-13insA
|
|
|
|
NM_004370.6(COL12A1):c.1892-19_1892-18dup
|
rs11347601
|
|
|
NM_004370.6(COL12A1):c.1892-19dup
|
rs11347601
|
|
|
NM_004370.6(COL12A1):c.1892-6_1892-5insG
|
rs752652515
|
|
|
NM_004370.6(COL12A1):c.1892-6_1892-5insT
|
rs752652515
|
|
|
NM_004370.6(COL12A1):c.1892-6dup
|
rs753233369
|
|
|
NM_004370.6(COL12A1):c.1892-7T>C
|
rs779185109
|
|
|
NM_004370.6(COL12A1):c.1892-7del
|
rs11347601
|
|
|
NM_004370.6(COL12A1):c.1892-9_1892-8insTTTTTTTTTTTAACTGTCT
|
rs560088357
|
|
|
NM_004370.6(COL12A1):c.1897G>A (p.Val633Ile)
|
rs200315815
|
|
|
NM_004370.6(COL12A1):c.1897G>C (p.Val633Leu)
|
rs200315815
|
|
|
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe)
|
rs200315815
|
|
|
NM_004370.6(COL12A1):c.1898T>C (p.Val633Ala)
|
|
|
|
NM_004370.6(COL12A1):c.190+11A>G
|
|
|
|
NM_004370.6(COL12A1):c.190+18G>A
|
|
|
|
NM_004370.6(COL12A1):c.1905A>G (p.Pro635=)
|
|
|
|
NM_004370.6(COL12A1):c.190G>A (p.Asp64Asn)
|
|
|
|
NM_004370.6(COL12A1):c.191-16C>A
|
rs2149479283
|
|
|
NM_004370.6(COL12A1):c.191-8A>G
|
|
|
|
NM_004370.6(COL12A1):c.1917T>C (p.Ser639=)
|
rs2149462302
|
|
|
NM_004370.6(COL12A1):c.1921del (p.Ser641fs)
|
rs2149462293
|
|
|
NM_004370.6(COL12A1):c.1925A>C (p.Glu642Ala)
|
rs1769262393
|
|
|
NM_004370.6(COL12A1):c.1926A>G (p.Glu642=)
|
rs2149462277
|
|
|
NM_004370.6(COL12A1):c.1936T>A (p.Tyr646Asn)
|
|
|
|
NM_004370.6(COL12A1):c.1945A>C (p.Lys649Gln)
|
|
|
|
NM_004370.6(COL12A1):c.1945_1946delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCC (p.Lys649delinsPhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaLeuValHisCysThrHisTer)
|
|
|
|
NM_004370.6(COL12A1):c.194G>A (p.Gly65Glu)
|
rs2149479257
|
|
|
NM_004370.6(COL12A1):c.1967G>C (p.Gly656Ala)
|
rs2149462234
|
|
|
NM_004370.6(COL12A1):c.1976T>G (p.Val659Gly)
|
|
|
|
NM_004370.6(COL12A1):c.1984del (p.Tyr662fs)
|
rs1769258754
|
|
|
NM_004370.6(COL12A1):c.198T>C (p.Pro66=)
|
|
|
|
NM_004370.6(COL12A1):c.1990A>G (p.Ile664Val)
|
rs1769258112
|
|
|
NM_004370.6(COL12A1):c.2002G>A (p.Glu668Lys)
|
rs2149462161
|
|
|
NM_004370.6(COL12A1):c.2008G>T (p.Ala670Ser)
|
rs1769255982
|
|
|
NM_004370.6(COL12A1):c.2014G>A (p.Asp672Asn)
|
rs1233438359
|
|
|
NM_004370.6(COL12A1):c.2022G>A (p.Glu674=)
|
rs1582191777
|
|
|
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala)
|
rs1562290248
|
|
|
NM_004370.6(COL12A1):c.2044T>A (p.Ser682Thr)
|
rs371321756
|
|
|
NM_004370.6(COL12A1):c.2045C>T (p.Ser682Leu)
|
|
|
|
NM_004370.6(COL12A1):c.2046G>A (p.Ser682=)
|
rs1039108581
|
|
|
NM_004370.6(COL12A1):c.2057T>C (p.Val686Ala)
|
|
|
|
NM_004370.6(COL12A1):c.2061T>C (p.Val687=)
|
|
|
|
NM_004370.6(COL12A1):c.2062C>G (p.Leu688Val)
|
|
|
|
NM_004370.6(COL12A1):c.207A>G (p.Glu69=)
|
rs2149479234
|
|
|
NM_004370.6(COL12A1):c.2100T>A (p.Asn700Lys)
|
|
|
|
NM_004370.6(COL12A1):c.2100T>C (p.Asn700=)
|
rs2149461949
|
|
|
NM_004370.6(COL12A1):c.2114A>G (p.Tyr705Cys)
|
|
|
|
NM_004370.6(COL12A1):c.2118G>A (p.Glu706=)
|
rs2149461922
|
|
|
NM_004370.6(COL12A1):c.2119G>A (p.Asp707Asn)
|
rs2149461916
|
|
|
NM_004370.6(COL12A1):c.2120_2123dup (p.Phe709fs)
|
|
|
|
NM_004370.6(COL12A1):c.2123G>T (p.Gly708Val)
|
rs2149461913
|
|
|
NM_004370.6(COL12A1):c.212C>T (p.Thr71Ile)
|
|
|
|
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val)
|
rs773755693
|
|
|
NM_004370.6(COL12A1):c.2134C>T (p.Pro712Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2135C>T (p.Pro712Leu)
|
|
|
|
NM_004370.6(COL12A1):c.2145A>G (p.Gly715=)
|
|
|
|
NM_004370.6(COL12A1):c.2147A>C (p.Glu716Ala)
|
|
|
|
NM_004370.6(COL12A1):c.2149G>A (p.Glu717Lys)
|
|
|
|
NM_004370.6(COL12A1):c.215T>C (p.Leu72Pro)
|
rs1562315490
|
|
|
NM_004370.6(COL12A1):c.2164+6A>G
|
rs746467248
|
|
|
NM_004370.6(COL12A1):c.2164+8G>C
|
|
|
|
NM_004370.6(COL12A1):c.2165-4T>C
|
|
|
|
NM_004370.6(COL12A1):c.2172A>T (p.Gly724=)
|
|
|
|
NM_004370.6(COL12A1):c.2173G>A (p.Ala725Thr)
|
rs984509796
|
|
|
NM_004370.6(COL12A1):c.2173G>T (p.Ala725Ser)
|
rs984509796
|
|
|
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu)
|
rs1341300538
|
|
|
NM_004370.6(COL12A1):c.2189A>C (p.Lys730Thr)
|
rs1769052023
|
|
|
NM_004370.6(COL12A1):c.2194A>G (p.Thr732Ala)
|
rs1769051365
|
|
|
NM_004370.6(COL12A1):c.2205T>G (p.Thr735=)
|
|
|
|
NM_004370.6(COL12A1):c.2213G>C (p.Ser738Thr)
|
rs750973541
|
|
|
NM_004370.6(COL12A1):c.2216T>G (p.Phe739Cys)
|
rs2149457038
|
|
|
NM_004370.6(COL12A1):c.2225C>G (p.Thr742Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2232T>C (p.Thr744=)
|
|
|
|
NM_004370.6(COL12A1):c.2233C>T (p.Gln745Ter)
|
rs1554186583
|
|
|
NM_004370.6(COL12A1):c.2244G>A (p.Gly748=)
|
rs2149456961
|
|
|
NM_004370.6(COL12A1):c.2245A>T (p.Arg749Ter)
|
|
|
|
NM_004370.6(COL12A1):c.2260C>A (p.Arg754=)
|
|
|
|
NM_004370.6(COL12A1):c.2260C>T (p.Arg754Ter)
|
rs1034315777
|
|
|
NM_004370.6(COL12A1):c.2263A>G (p.Ile755Val)
|
rs1769044982
|
|
|
NM_004370.6(COL12A1):c.2265T>C (p.Ile755=)
|
rs982309132
|
|
|
NM_004370.6(COL12A1):c.2278G>T (p.Val760Phe)
|
rs2149456891
|
|
|
NM_004370.6(COL12A1):c.2282C>G (p.Ala761Gly)
|
|
|
|
NM_004370.6(COL12A1):c.2288G>T (p.Gly763Val)
|
|
|
|
NM_004370.6(COL12A1):c.228C>T (p.Thr76=)
|
rs1432448789
|
|
|
NM_004370.6(COL12A1):c.2292G>A (p.Glu764=)
|
rs2149456858
|
|
|
NM_004370.6(COL12A1):c.2297G>A (p.Arg766Lys)
|
|
|
|
NM_004370.6(COL12A1):c.2306C>G (p.Thr769Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2308A>G (p.Thr770Ala)
|
rs2149456824
|
|
|
NM_004370.6(COL12A1):c.2309C>T (p.Thr770Ile)
|
|
|
|
NM_004370.6(COL12A1):c.2312C>T (p.Pro771Leu)
|
|
|
|
NM_004370.6(COL12A1):c.2322GAG[2] (p.Arg777del)
|
|
|
|
NM_004370.6(COL12A1):c.2327G>A (p.Arg776Lys)
|
|
|
|
NM_004370.6(COL12A1):c.2333C>T (p.Thr778Ile)
|
|
|
|
NM_004370.6(COL12A1):c.2341A>G (p.Asn781Asp)
|
rs2149456727
|
|
|
NM_004370.6(COL12A1):c.2342A>G (p.Asn781Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2351C>T (p.Pro784Leu)
|
|
|
|
NM_004370.6(COL12A1):c.2355C>A (p.Asp785Glu)
|
rs2149456708
|
|
|
NM_004370.6(COL12A1):c.2358G>A (p.Thr786=)
|
|
|
|
NM_004370.6(COL12A1):c.236C>A (p.Thr79Asn)
|
|
|
|
NM_004370.6(COL12A1):c.2382T>A (p.Pro794=)
|
|
|
|
NM_004370.6(COL12A1):c.2393C>T (p.Ser798Leu)
|
|
|
|
NM_004370.6(COL12A1):c.2403T>A (p.Gly801=)
|
rs750671040
|
|
|
NM_004370.6(COL12A1):c.2405C>T (p.Thr802Ile)
|
rs1769035606
|
|
|
NM_004370.6(COL12A1):c.2422G>A (p.Ala808Thr)
|
rs772493333
|
|
|
NM_004370.6(COL12A1):c.2425G>A (p.Ala809Thr)
|
|
|
|
NM_004370.6(COL12A1):c.2431G>A (p.Glu811Lys)
|
|
|
|
NM_004370.6(COL12A1):c.2436A>C (p.Glu812Asp)
|
rs1769033719
|
|
|
NM_004370.6(COL12A1):c.2437+18A>G
|
|
|
|
NM_004370.6(COL12A1):c.2437+6G>A
|
rs1769033413
|
|
|
NM_004370.6(COL12A1):c.2438-11T>C
|
|
|
|
NM_004370.6(COL12A1):c.2438-14A>C
|
|
|
|
NM_004370.6(COL12A1):c.2438-20G>A
|
|
|
|
NM_004370.6(COL12A1):c.2438-5T>C
|
rs1768879542
|
|
|
NM_004370.6(COL12A1):c.2438-8dup
|
rs1032205753
|
|
|
NM_004370.6(COL12A1):c.243G>T (p.Leu81Phe)
|
|
|
|
NM_004370.6(COL12A1):c.2444G>T (p.Gly815Val)
|
|
|
|
NM_004370.6(COL12A1):c.2453G>A (p.Arg818Lys)
|
rs371428645
|
|
|
NM_004370.6(COL12A1):c.2457C>A (p.Asp819Glu)
|
|
|
|
NM_004370.6(COL12A1):c.2460A>G (p.Leu820=)
|
|
|
|
NM_004370.6(COL12A1):c.2461A>G (p.Arg821Gly)
|
rs1768877676
|
|
|
NM_004370.6(COL12A1):c.2476A>G (p.Thr826Ala)
|
|
|
|
NM_004370.6(COL12A1):c.2485A>G (p.Thr829Ala)
|
rs1194621615
|
|
|
NM_004370.6(COL12A1):c.2488A>G (p.Met830Val)
|
rs1489423171
|
|
|
NM_004370.6(COL12A1):c.2494T>A (p.Leu832Ile)
|
|
|
|
NM_004370.6(COL12A1):c.2501G>T (p.Trp834Leu)
|
|
|
|
NM_004370.6(COL12A1):c.2506G>C (p.Gly836Arg)
|
|
|
|
NM_004370.6(COL12A1):c.2521G>C (p.Val841Leu)
|
rs2149452205
|
|
|
NM_004370.6(COL12A1):c.2527C>G (p.Gln843Glu)
|
rs2149452194
|
|
|
NM_004370.6(COL12A1):c.2528A>T (p.Gln843Leu)
|
rs2149452186
|
|
|
NM_004370.6(COL12A1):c.2529G>A (p.Gln843=)
|
rs374489011
|
|
|
NM_004370.6(COL12A1):c.2535C>T (p.Leu845=)
|
rs372378385
|
|
|
NM_004370.6(COL12A1):c.2541A>G (p.Thr847=)
|
rs775341470
|
|
|
NM_004370.6(COL12A1):c.2546C>A (p.Thr849Asn)
|
rs559028883
|
|
|
NM_004370.6(COL12A1):c.2547C>T (p.Thr849=)
|
|
|
|
NM_004370.6(COL12A1):c.2559G>C (p.Gly853=)
|
|
|
|
NM_004370.6(COL12A1):c.2561del (p.Gly854fs)
|
rs1582179372
|
|
|
NM_004370.6(COL12A1):c.2591A>T (p.Asp864Val)
|
rs2149452026
|
|
|
NM_004370.6(COL12A1):c.2604G>A (p.Thr868=)
|
rs554348257
|
|
|
NM_004370.6(COL12A1):c.2604G>T (p.Thr868=)
|
rs554348257
|
|
|
NM_004370.6(COL12A1):c.2605G>A (p.Val869Met)
|
rs764066205
|
|
|
NM_004370.6(COL12A1):c.2605G>T (p.Val869Leu)
|
rs764066205
|
|
|
NM_004370.6(COL12A1):c.2619G>A (p.Leu873=)
|
rs2149451975
|
|
|
NM_004370.6(COL12A1):c.2622G>C (p.Lys874Asn)
|
|
|
|
NM_004370.6(COL12A1):c.2629A>G (p.Thr877Ala)
|
|
|
|
NM_004370.6(COL12A1):c.2631A>G (p.Thr877=)
|
rs2149451941
|
|
|
NM_004370.6(COL12A1):c.2644T>G (p.Ser882Ala)
|
rs1277353575
|
|
|
NM_004370.6(COL12A1):c.2647G>A (p.Val883Met)
|
|
|
|
NM_004370.6(COL12A1):c.2656T>A (p.Leu886Met)
|
|
|
|
NM_004370.6(COL12A1):c.265G>A (p.Glu89Lys)
|
|
|
|
NM_004370.6(COL12A1):c.2663C>A (p.Ala888Glu)
|
rs777386471
|
|
|
NM_004370.6(COL12A1):c.2663C>T (p.Ala888Val)
|
rs777386471
|
|
|
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala)
|
rs1278211393
|
|
|
NM_004370.6(COL12A1):c.2680G>T (p.Ala894Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2683C>G (p.Leu895Val)
|
|
|
|
NM_004370.6(COL12A1):c.2689G>C (p.Gly897Arg)
|
rs2149451801
|
|
|
NM_004370.6(COL12A1):c.2690G>T (p.Gly897Val)
|
|
|
|
NM_004370.6(COL12A1):c.2691T>G (p.Gly897=)
|
rs1554186131
|
|
|
NM_004370.6(COL12A1):c.2694A>T (p.Glu898Asp)
|
rs1768851120
|
|
|
NM_004370.6(COL12A1):c.2703A>C (p.Thr901=)
|
rs1554186125
|
|
|
NM_004370.6(COL12A1):c.2710+17_2710+18insTA
|
|
|
|
NM_004370.6(COL12A1):c.2710+7A>G
|
rs969629618
|
|
|
NM_004370.6(COL12A1):c.2710+8C>A
|
|
|
|
NM_004370.6(COL12A1):c.2710+8_2710+9delinsTTTTCTGAAA
|
rs2149451710
|
|
|
NM_004370.6(COL12A1):c.2711-15dup
|
|
|
|
NM_004370.6(COL12A1):c.2711-5T>G
|
|
|
|
NM_004370.6(COL12A1):c.2711-9C>A
|
rs2149439017
|
|
|
NM_004370.6(COL12A1):c.2714G>C (p.Arg905Pro)
|
rs369193482
|
|
|
NM_004370.6(COL12A1):c.2720C>T (p.Ser907Phe)
|
|
|
|
NM_004370.6(COL12A1):c.2722C>T (p.Pro908Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2729A>T (p.Asp910Val)
|
|
|
|
NM_004370.6(COL12A1):c.2730T>C (p.Asp910=)
|
|
|
|
NM_004370.6(COL12A1):c.2743G>A (p.Asp915Asn)
|
|
|
|
NM_004370.6(COL12A1):c.2756C>T (p.Thr919Ile)
|
|
|
|
NM_004370.6(COL12A1):c.2761A>G (p.Ile921Val)
|
|
|
|
NM_004370.6(COL12A1):c.2762T>C (p.Ile921Thr)
|
rs1768261723
|
|
|
NM_004370.6(COL12A1):c.2765G>A (p.Gly922Glu)
|
|
|
|
NM_004370.6(COL12A1):c.2766G>A (p.Gly922=)
|
rs1768261405
|
|
|
NM_004370.6(COL12A1):c.2766G>T (p.Gly922=)
|
|
|
|
NM_004370.6(COL12A1):c.2787A>G (p.Pro929=)
|
|
|
|
NM_004370.6(COL12A1):c.2794G>A (p.Val932Ile)
|
rs1768259480
|
|
|
NM_004370.6(COL12A1):c.2797C>G (p.Arg933Gly)
|
|
|
|
NM_004370.6(COL12A1):c.2798G>A (p.Arg933His)
|
rs779848906
|
|
|
NM_004370.6(COL12A1):c.27_42del (p.Ala10fs)
|
rs2149492561
|
|
|
NM_004370.6(COL12A1):c.2800G>A (p.Gly934Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2808G>A (p.Arg936=)
|
|
|
|
NM_004370.6(COL12A1):c.280A>G (p.Ile94Val)
|
|
|
|
NM_004370.6(COL12A1):c.2814A>G (p.Ser938=)
|
|
|
|
NM_004370.6(COL12A1):c.2820A>C (p.Lys940Asn)
|
|
|
|
NM_004370.6(COL12A1):c.2825T>C (p.Leu942Pro)
|
rs2149438769
|
|
|
NM_004370.6(COL12A1):c.2831A>T (p.Asp944Val)
|
|
|
|
NM_004370.6(COL12A1):c.2832T>C (p.Asp944=)
|
rs375540397
|
|
|
NM_004370.6(COL12A1):c.2833G>A (p.Asp945Asn)
|
|
|
|
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu)
|
rs1253194188
|
|
|
NM_004370.6(COL12A1):c.2856T>C (p.Asn952=)
|
|
|
|
NM_004370.6(COL12A1):c.2862T>G (p.Pro954=)
|
rs930413173
|
|
|
NM_004370.6(COL12A1):c.2865A>G (p.Glu955=)
|
|
|
|
NM_004370.6(COL12A1):c.2870C>A (p.Ala957Glu)
|
rs1236232001
|
|
|
NM_004370.6(COL12A1):c.2881A>T (p.Met961Leu)
|
rs370815575
|
|
|
NM_004370.6(COL12A1):c.2891A>G (p.Asn964Ser)
|
|
|
|
NM_004370.6(COL12A1):c.2897A>G (p.Gln966Arg)
|
|
|
|
NM_004370.6(COL12A1):c.2901A>G (p.Pro967=)
|
|
|
|
NM_004370.6(COL12A1):c.2907C>T (p.Thr969=)
|
|
|
|
NM_004370.6(COL12A1):c.290A>G (p.Tyr97Cys)
|
|
|
|
NM_004370.6(COL12A1):c.2914A>G (p.Arg972Gly)
|
rs1768252416
|
|
|
NM_004370.6(COL12A1):c.291TGA[1] (p.Asp98del)
|
|
|
|
NM_004370.6(COL12A1):c.2932A>G (p.Thr978Ala)
|
|
|
|
NM_004370.6(COL12A1):c.2935T>C (p.Tyr979His)
|
|
|
|
NM_004370.6(COL12A1):c.2944G>A (p.Gly982Arg)
|
|
|
|
NM_004370.6(COL12A1):c.2948_2950del (p.Glu983del)
|
rs1768250668
|
|
|
NM_004370.6(COL12A1):c.2957C>A (p.Pro986His)
|
rs752812483
|
|
|
NM_004370.6(COL12A1):c.2966G>C (p.Gly989Ala)
|
|
|
|
NM_004370.6(COL12A1):c.2970T>A (p.Asp990Glu)
|
|
|
|
NM_004370.6(COL12A1):c.2976A>C (p.Thr992=)
|
|
|
|
NM_004370.6(COL12A1):c.2982A>G (p.Glu994=)
|
rs1768247192
|
|
|
NM_004370.6(COL12A1):c.2983+11T>C
|
|
|
|
NM_004370.6(COL12A1):c.2983+12_2983+14del
|
|
|
|
NM_004370.6(COL12A1):c.2983+17G>A
|
|
|
|
NM_004370.6(COL12A1):c.2983+1G>T
|
|
|
|
NM_004370.6(COL12A1):c.2983+2T>G
|
|
|
|
NM_004370.6(COL12A1):c.2983+3A>C
|
|
|
|
NM_004370.6(COL12A1):c.2983+3del
|
|
|
|
NM_004370.6(COL12A1):c.2984-18C>A
|
|
|
|
NM_004370.6(COL12A1):c.2984-18C>G
|
|
|
|
NM_004370.6(COL12A1):c.2984-7C>T
|
|
|
|
NM_004370.6(COL12A1):c.2984-8T>C
|
|
|
|
NM_004370.6(COL12A1):c.2987C>T (p.Ser996Phe)
|
rs1582147328
|
|
|
NM_004370.6(COL12A1):c.2989C>A (p.Gln997Lys)
|
rs1767775935
|
|
|
NM_004370.6(COL12A1):c.2996C>A (p.Ser999Tyr)
|
rs1767775644
|
|
|
NM_004370.6(COL12A1):c.299T>C (p.Val100Ala)
|
|
|
|
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu)
|
rs1562335715
|
|
|
NM_004370.6(COL12A1):c.3031A>G (p.Thr1011Ala)
|
rs1767774122
|
|
|
NM_004370.6(COL12A1):c.3035T>C (p.Met1012Thr)
|
|
|
|
NM_004370.6(COL12A1):c.3057A>G (p.Ala1019=)
|
rs753423916
|
|
|
NM_004370.6(COL12A1):c.3066A>G (p.Lys1022=)
|
|
|
|
NM_004370.6(COL12A1):c.3067G>A (p.Val1023Ile)
|
|
|
|
NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile)
|
rs200985706
|
|
|
NM_004370.6(COL12A1):c.3085G>A (p.Val1029Ile)
|
rs1582147115
|
|
|
NM_004370.6(COL12A1):c.3086T>C (p.Val1029Ala)
|
rs1582147110
|
|
|
NM_004370.6(COL12A1):c.3089A>G (p.Tyr1030Cys)
|
rs2149424485
|
|
|
NM_004370.6(COL12A1):c.3091C>A (p.Arg1031Ser)
|
rs575168916
|
|
|
NM_004370.6(COL12A1):c.3095C>A (p.Pro1032His)
|
|
|
|
NM_004370.6(COL12A1):c.3100G>A (p.Gly1034Arg)
|
rs2149424441
|
|
|
NM_004370.6(COL12A1):c.3117G>A (p.Met1039Ile)
|
rs1767764943
|
|
|
NM_004370.6(COL12A1):c.3122C>G (p.Ala1041Gly)
|
|
|
|
NM_004370.6(COL12A1):c.3125A>C (p.Lys1042Thr)
|
rs1767764412
|
|
|
NM_004370.6(COL12A1):c.3127G>T (p.Val1043Leu)
|
|
|
|
NM_004370.6(COL12A1):c.3128T>C (p.Val1043Ala)
|
|
|
|
NM_004370.6(COL12A1):c.3128T>G (p.Val1043Gly)
|
rs2149424377
|
|
|
NM_004370.6(COL12A1):c.3135C>A (p.Pro1045=)
|
rs1582146956
|
|
|
NM_004370.6(COL12A1):c.3137C>T (p.Thr1046Ile)
|
|
|
|
NM_004370.6(COL12A1):c.3142A>G (p.Thr1048Ala)
|
|
|
|
NM_004370.6(COL12A1):c.3143C>T (p.Thr1048Ile)
|
|
|
|
NM_004370.6(COL12A1):c.3146C>T (p.Ser1049Leu)
|
rs772210650
|
|
|
NM_004370.6(COL12A1):c.3147G>C (p.Ser1049=)
|
|
|
|
NM_004370.6(COL12A1):c.3160C>T (p.Arg1054Ter)
|
rs868543538
|
|
|
NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln)
|
rs577784031
|
|
|
NM_004370.6(COL12A1):c.3180A>G (p.Thr1060=)
|
|
|
|
NM_004370.6(COL12A1):c.3183T>C (p.Tyr1061=)
|
|
|
|
NM_004370.6(COL12A1):c.3185A>T (p.Asp1062Val)
|
|
|
|
NM_004370.6(COL12A1):c.3188T>C (p.Ile1063Thr)
|
|
|
|
NM_004370.6(COL12A1):c.3193G>A (p.Val1065Ile)
|
|
|
|
NM_004370.6(COL12A1):c.3217G>A (p.Glu1073Lys)
|
rs2149424189
|
|
|
NM_004370.6(COL12A1):c.3228T>C (p.Leu1076=)
|
|
|
|
NM_004370.6(COL12A1):c.3233A>G (p.Gln1078Arg)
|
|
|
|
NM_004370.6(COL12A1):c.3242G>C (p.Gly1081Ala)
|
|
|
|
NM_004370.6(COL12A1):c.3250+16T>G
|
rs1554183547
|
|
|
NM_004370.6(COL12A1):c.3250+7AAT[2]
|
rs778868677
|
|
|
NM_004370.6(COL12A1):c.3250G>A (p.Ala1084Thr)
|
|
|
|
NM_004370.6(COL12A1):c.3251-8C>T
|
rs754632351
|
|
|
NM_004370.6(COL12A1):c.3254C>G (p.Ser1085Cys)
|
|
|
|
NM_004370.6(COL12A1):c.3256C>T (p.Arg1086Trp)
|
|
|
|
NM_004370.6(COL12A1):c.3257G>A (p.Arg1086Gln)
|
|
|
|
NM_004370.6(COL12A1):c.3259T>C (p.Phe1087Leu)
|
rs2149423356
|
|
|
NM_004370.6(COL12A1):c.3260T>G (p.Phe1087Cys)
|
rs1767727217
|
|
|
NM_004370.6(COL12A1):c.326A>C (p.Gln109Pro)
|
|
|
|
NM_004370.6(COL12A1):c.3271A>G (p.Arg1091Gly)
|
|
|
|
NM_004370.6(COL12A1):c.3279C>A (p.Leu1093=)
|
|
|
|
NM_004370.6(COL12A1):c.3287C>T (p.Ser1096Phe)
|
rs2149423302
|
|
|
NM_004370.6(COL12A1):c.3295_3298del (p.Thr1099fs)
|
|
|
|
NM_004370.6(COL12A1):c.3301T>C (p.Ser1101Pro)
|
|
|
|
NM_004370.6(COL12A1):c.3305G>A (p.Ser1102Asn)
|
rs2149423269
|
|
|
NM_004370.6(COL12A1):c.330A>G (p.Leu110=)
|
rs2149479020
|
|
|
NM_004370.6(COL12A1):c.3311G>A (p.Arg1104Gln)
|
rs2149423255
|
|
|
NM_004370.6(COL12A1):c.3323A>G (p.Glu1108Gly)
|
|
|
|
NM_004370.6(COL12A1):c.3329C>A (p.Ala1110Asp)
|
rs1767721141
|
|
|
NM_004370.6(COL12A1):c.332C>A (p.Thr111Lys)
|
|
|
|
NM_004370.6(COL12A1):c.3331C>G (p.Pro1111Ala)
|
rs1272550670
|
|
|
NM_004370.6(COL12A1):c.3332C>A (p.Pro1111His)
|
rs2149423214
|
|
|
NM_004370.6(COL12A1):c.3337G>A (p.Glu1113Lys)
|
|
|
|
NM_004370.6(COL12A1):c.334+13A>T
|
rs991483498
|
|
|
NM_004370.6(COL12A1):c.334+18del
|
rs2149478980
|
|
|
NM_004370.6(COL12A1):c.334+4A>T
|
rs1769967046
|
|
|
NM_004370.6(COL12A1):c.3340G>A (p.Val1114Met)
|
rs2149423183
|
|
|
NM_004370.6(COL12A1):c.335-15A>G
|
|
|
|
NM_004370.6(COL12A1):c.335-1G>C
|
rs779800232
|
|
|
NM_004370.6(COL12A1):c.335-22TAA[2]
|
|
|
|
NM_004370.6(COL12A1):c.335-8del
|
rs2149478420
|
|
|
NM_004370.6(COL12A1):c.3350A>G (p.Tyr1117Cys)
|
rs1582145759
|
|
|
NM_004370.6(COL12A1):c.3351T>C (p.Tyr1117=)
|
rs776878636
|
|
|
NM_004370.6(COL12A1):c.3366C>T (p.His1122=)
|
rs2149423139
|
|
|
NM_004370.6(COL12A1):c.3371C>T (p.Thr1124Met)
|
|
|
|
NM_004370.6(COL12A1):c.3372G>A (p.Thr1124=)
|
rs749287034
|
|
|
NM_004370.6(COL12A1):c.3372G>C (p.Thr1124=)
|
|
|
|
NM_004370.6(COL12A1):c.3386G>A (p.Arg1129Lys)
|
|
|
|
NM_004370.6(COL12A1):c.3396G>C (p.Glu1132Asp)
|
rs1420617553
|
|
|
NM_004370.6(COL12A1):c.3399A>C (p.Leu1133Phe)
|
|
|
|
NM_004370.6(COL12A1):c.33C>G (p.Ala11=)
|
rs1770596486
|
|
|
NM_004370.6(COL12A1):c.33C>T (p.Ala11=)
|
rs1770596486
|
|
|
NM_004370.6(COL12A1):c.3407G>A (p.Gly1136Glu)
|
|
|
|
NM_004370.6(COL12A1):c.3414T>A (p.Tyr1138Ter)
|
|
|
|
NM_004370.6(COL12A1):c.3420C>T (p.Asn1140=)
|
rs752420015
|
|
|
NM_004370.6(COL12A1):c.3422C>T (p.Thr1141Ile)
|
|
|
|
NM_004370.6(COL12A1):c.342A>G (p.Thr114=)
|
rs2149478404
|
|
|
NM_004370.6(COL12A1):c.3435G>C (p.Glu1145Asp)
|
|
|
|
NM_004370.6(COL12A1):c.3438A>G (p.Glu1146=)
|
|
|
|
NM_004370.6(COL12A1):c.3443+20G>A
|
|
|
|
NM_004370.6(COL12A1):c.3444-15A>G
|
|
|
|
NM_004370.6(COL12A1):c.3444-17A>G
|
|
|
|
NM_004370.6(COL12A1):c.3444-19A>G
|
|
|
|
NM_004370.6(COL12A1):c.3444-6T>G
|
|
|
|
NM_004370.6(COL12A1):c.3445G>T (p.Ala1149Ser)
|
|
|
|
NM_004370.6(COL12A1):c.3453C>A (p.Thr1151=)
|
|
|
|
NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His)
|
rs764153192
|
|
|
NM_004370.6(COL12A1):c.3467A>T (p.Asn1156Ile)
|
rs759294983
|
|
|
NM_004370.6(COL12A1):c.3483T>C (p.Phe1161=)
|
|
|
|
NM_004370.6(COL12A1):c.3485A>C (p.Asp1162Ala)
|
rs770692332
|
|
|
NM_004370.6(COL12A1):c.3491G>A (p.Gly1164Glu)
|
|
|
|
NM_004370.6(COL12A1):c.3493G>A (p.Glu1165Lys)
|
|
|
|
NM_004370.6(COL12A1):c.3497G>A (p.Ser1166Asn)
|
|
|
|
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln)
|
rs1767653671
|
|
|
NM_004370.6(COL12A1):c.351G>T (p.Ser117=)
|
|
|
|
NM_004370.6(COL12A1):c.3529C>A (p.Leu1177Ile)
|
|
|
|
NM_004370.6(COL12A1):c.3534C>A (p.Ser1178=)
|
|
|
|
NM_004370.6(COL12A1):c.3544G>A (p.Val1182Ile)
|
|
|
|
NM_004370.6(COL12A1):c.3545T>A (p.Val1182Asp)
|
|
|
|
NM_004370.6(COL12A1):c.3550C>G (p.Pro1184Ala)
|
|
|
|
NM_004370.6(COL12A1):c.3556T>C (p.Leu1186=)
|
|
|
|
NM_004370.6(COL12A1):c.3558A>G (p.Leu1186=)
|
|
|
|
NM_004370.6(COL12A1):c.3561T>A (p.Ser1187=)
|
rs1582143439
|
|
|
NM_004370.6(COL12A1):c.3562T>C (p.Ser1188Pro)
|
rs1190415160
|
|
|
NM_004370.6(COL12A1):c.3563C>T (p.Ser1188Phe)
|
|
|
|
NM_004370.6(COL12A1):c.3565+11G>A
|
|
|
|
NM_004370.6(COL12A1):c.3565+1G>A
|
|
|
|
NM_004370.6(COL12A1):c.3566-15T>C
|
|
|
|
NM_004370.6(COL12A1):c.3566-19C>G
|
|
|
|
NM_004370.6(COL12A1):c.3566-5G>A
|
rs2149417897
|
|
|
NM_004370.6(COL12A1):c.3566-6T>C
|
|
|
|
NM_004370.6(COL12A1):c.3566-7A>G
|
|
|
|
NM_004370.6(COL12A1):c.3566-8C>G
|
rs201709757
|
|
|
NM_004370.6(COL12A1):c.3566-8C>T
|
|
|
|
NM_004370.6(COL12A1):c.3590A>G (p.Glu1197Gly)
|
|
|
|
NM_004370.6(COL12A1):c.3635G>A (p.Arg1212Gln)
|
rs775382202
|
|
|
NM_004370.6(COL12A1):c.3646A>C (p.Arg1216=)
|
|
|
|
NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn)
|
rs1436778165
|
|
|
NM_004370.6(COL12A1):c.366G>A (p.Glu122=)
|
|
|
|
NM_004370.6(COL12A1):c.3691A>G (p.Ile1231Val)
|
rs1449618151
|
|
|
NM_004370.6(COL12A1):c.3694G>C (p.Gly1232Arg)
|
|
|
|
NM_004370.6(COL12A1):c.36G>A (p.Leu12=)
|
|
|
|
NM_004370.6(COL12A1):c.36G>T (p.Leu12=)
|
|
|
|
NM_004370.6(COL12A1):c.3712A>T (p.Ile1238Phe)
|
|
|
|
NM_004370.6(COL12A1):c.3713T>C (p.Ile1238Thr)
|
rs2149417585
|
|
|
NM_004370.6(COL12A1):c.3715+17T>C
|
|
|
|
NM_004370.6(COL12A1):c.3715+18T>C
|
|
|
|
NM_004370.6(COL12A1):c.3715+1G>T
|
|
|
|
NM_004370.6(COL12A1):c.3716-10G>T
|
|
|
|
NM_004370.6(COL12A1):c.3716-20T>C
|
rs1176638204
|
|
|
NM_004370.6(COL12A1):c.3733G>C (p.Gly1245Arg)
|
|
|
|
NM_004370.6(COL12A1):c.3736G>A (p.Asp1246Asn)
|
rs1582139804
|
|
|
NM_004370.6(COL12A1):c.373C>A (p.Pro125Thr)
|
|
|
|
NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter)
|
rs1582139761
|
|
|
NM_004370.6(COL12A1):c.3764C>T (p.Ala1255Val)
|
|
|
|
NM_004370.6(COL12A1):c.3766C>A (p.His1256Asn)
|
|
|
|
NM_004370.6(COL12A1):c.3766C>G (p.His1256Asp)
|
|
|
|
NM_004370.6(COL12A1):c.3767A>T (p.His1256Leu)
|
rs199692759
|
|
|
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu)
|
rs375043994
|
|
|
NM_004370.6(COL12A1):c.3774C>G (p.Asp1258Glu)
|
rs375043994
|
|
|
NM_004370.6(COL12A1):c.3774C>T (p.Asp1258=)
|
|
|
|
NM_004370.6(COL12A1):c.3776A>G (p.Lys1259Arg)
|
|
|
|
NM_004370.6(COL12A1):c.3800C>T (p.Ala1267Val)
|
|
|
|
NM_004370.6(COL12A1):c.3802A>G (p.Asn1268Asp)
|
|
|
|
NM_004370.6(COL12A1):c.3809C>T (p.Pro1270Leu)
|
|
|
|
NM_004370.6(COL12A1):c.3814A>G (p.Lys1272Glu)
|
rs1562233846
|
|
|
NM_004370.6(COL12A1):c.3827C>T (p.Thr1276Ile)
|
|
|
|
NM_004370.6(COL12A1):c.3829C>T (p.Leu1277Phe)
|
|
|
|
NM_004370.6(COL12A1):c.3835+18G>A
|
|
|
|
NM_004370.6(COL12A1):c.3835+3_3835+6del
|
|
|
|
NM_004370.6(COL12A1):c.3862C>A (p.Gln1288Lys)
|
|
|
|
NM_004370.6(COL12A1):c.3869T>G (p.Phe1290Cys)
|
rs1387157172
|
|
|
NM_004370.6(COL12A1):c.3874A>G (p.Thr1292Ala)
|
|
|
|
NM_004370.6(COL12A1):c.3876C>T (p.Thr1292=)
|
|
|
|
NM_004370.6(COL12A1):c.3877C>G (p.Gln1293Glu)
|
rs1489541121
|
|
|
NM_004370.6(COL12A1):c.3881C>G (p.Ala1294Gly)
|
rs1231394496
|
|
|
NM_004370.6(COL12A1):c.3884G>A (p.Gly1295Asp)
|
|
|
|
NM_004370.6(COL12A1):c.3892C>A (p.Pro1298Thr)
|
rs376766442
|
|
|
NM_004370.6(COL12A1):c.3892C>T (p.Pro1298Ser)
|
|
|
|
NM_004370.6(COL12A1):c.389T>C (p.Ile130Thr)
|
rs1769938135
|
|
|
NM_004370.6(COL12A1):c.38G>T (p.Gly13Val)
|
|
|
|
NM_004370.6(COL12A1):c.3902G>A (p.Arg1301Gln)
|
|
|
|
NM_004370.6(COL12A1):c.390A>T (p.Ile130=)
|
|
|
|
NM_004370.6(COL12A1):c.3916C>G (p.Leu1306Val)
|
|
|
|
NM_004370.6(COL12A1):c.3918C>T (p.Leu1306=)
|
|
|
|
NM_004370.6(COL12A1):c.391C>T (p.Gln131Ter)
|
|
|
|
NM_004370.6(COL12A1):c.3927T>C (p.Asp1309=)
|
|
|
|
NM_004370.6(COL12A1):c.3928G>C (p.Gly1310Arg)
|
rs1260669878
|
|
|
NM_004370.6(COL12A1):c.393A>C (p.Gln131His)
|
rs1769937627
|
|
|
NM_004370.6(COL12A1):c.394+11C>T
|
|
|
|
NM_004370.6(COL12A1):c.394+16A>G
|
|
|
|
NM_004370.6(COL12A1):c.394+16A>T
|
|
|
|
NM_004370.6(COL12A1):c.394+1G>A
|
|
|
|
NM_004370.6(COL12A1):c.394+3G>A
|
|
|
|
NM_004370.6(COL12A1):c.3942C>G (p.Asp1314Glu)
|
rs570245614
|
|
|
NM_004370.6(COL12A1):c.3942C>T (p.Asp1314=)
|
rs570245614
|
|
|
NM_004370.6(COL12A1):c.3943G>T (p.Asp1315Tyr)
|
|
|
|
NM_004370.6(COL12A1):c.3946G>A (p.Val1316Ile)
|
|
|
|
NM_004370.6(COL12A1):c.395-19G>C
|
|
|
|
NM_004370.6(COL12A1):c.395-19G>T
|
|
|
|
NM_004370.6(COL12A1):c.395-2A>C
|
rs1562310723
|
|
|
NM_004370.6(COL12A1):c.395-9G>A
|
|
|
|
NM_004370.6(COL12A1):c.3972G>A (p.Lys1324=)
|
|
|
|
NM_004370.6(COL12A1):c.3987G>A (p.Glu1329=)
|
|
|
|
NM_004370.6(COL12A1):c.398G>A (p.Cys133Tyr)
|
|
|
|
NM_004370.6(COL12A1):c.3994del (p.Ala1332fs)
|
rs1554182935
|
|
|
NM_004370.6(COL12A1):c.3997A>G (p.Ile1333Val)
|
rs557573017
|
|
|
NM_004370.6(COL12A1):c.4000+14A>G
|
|
|
|
NM_004370.6(COL12A1):c.4000+15G>T
|
|
|
|
NM_004370.6(COL12A1):c.4000+18C>T
|
|
|
|
NM_004370.6(COL12A1):c.4000+4C>T
|
rs375772555
|
|
|
NM_004370.6(COL12A1):c.4001-11C>A
|
|
|
|
NM_004370.6(COL12A1):c.4001-6T>C
|
|
|
|
NM_004370.6(COL12A1):c.4001G>T (p.Gly1334Val)
|
|
|
|
NM_004370.6(COL12A1):c.4002T>C (p.Gly1334=)
|
rs1425739513
|
|
|
NM_004370.6(COL12A1):c.4003A>T (p.Ile1335Phe)
|
rs1554182853
|
|
|
NM_004370.6(COL12A1):c.4010A>T (p.Asn1337Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4013C>T (p.Ala1338Val)
|
|
|
|
NM_004370.6(COL12A1):c.4020A>G (p.Glu1340=)
|
rs1582137847
|
|
|
NM_004370.6(COL12A1):c.4026A>G (p.Glu1342=)
|
rs2149415478
|
|
|
NM_004370.6(COL12A1):c.4035G>A (p.Met1345Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4036A>G (p.Ile1346Val)
|
rs2149415452
|
|
|
NM_004370.6(COL12A1):c.4040C>T (p.Ala1347Val)
|
|
|
|
NM_004370.6(COL12A1):c.4042A>G (p.Thr1348Ala)
|
rs1335085130
|
|
|
NM_004370.6(COL12A1):c.4047T>A (p.Asp1349Glu)
|
|
|
|
NM_004370.6(COL12A1):c.4048C>T (p.Pro1350Ser)
|
|
|
|
NM_004370.6(COL12A1):c.4049C>A (p.Pro1350His)
|
|
|
|
NM_004370.6(COL12A1):c.4049C>T (p.Pro1350Leu)
|
|
|
|
NM_004370.6(COL12A1):c.4050T>C (p.Pro1350=)
|
|
|
|
NM_004370.6(COL12A1):c.4051G>A (p.Asp1351Asn)
|
rs1767469659
|
|
|
NM_004370.6(COL12A1):c.4058C>A (p.Thr1353Asn)
|
rs913180274
|
|
|
NM_004370.6(COL12A1):c.4058C>G (p.Thr1353Ser)
|
rs913180274
|
|
|
NM_004370.6(COL12A1):c.4059C>A (p.Thr1353=)
|
rs992754948
|
|
|
NM_004370.6(COL12A1):c.4070A>G (p.Asn1357Ser)
|
rs1562230954
|
|
|
NM_004370.6(COL12A1):c.4086G>A (p.Glu1362=)
|
|
|
|
NM_004370.6(COL12A1):c.4096A>T (p.Arg1366Trp)
|
|
|
|
NM_004370.6(COL12A1):c.4101A>C (p.Ile1367=)
|
|
|
|
NM_004370.6(COL12A1):c.4101A>G (p.Ile1367Met)
|
rs745813975
|
|
|
NM_004370.6(COL12A1):c.4106A>G (p.Asp1369Gly)
|
rs2149415249
|
|
|
NM_004370.6(COL12A1):c.4115C>T (p.Thr1372Ile)
|
rs2149415231
|
|
|
NM_004370.6(COL12A1):c.4117A>G (p.Ile1373Val)
|
rs2149415217
|
|
|
NM_004370.6(COL12A1):c.4118T>G (p.Ile1373Ser)
|
rs1268978531
|
|
|
NM_004370.6(COL12A1):c.4132A>T (p.Ser1378Cys)
|
rs1405840866
|
|
|
NM_004370.6(COL12A1):c.4133G>A (p.Ser1378Asn)
|
rs1033092764
|
|
|
NM_004370.6(COL12A1):c.4147+17G>A
|
|
|
|
NM_004370.6(COL12A1):c.4147+3A>G
|
|
|
|
NM_004370.6(COL12A1):c.4147+4A>T
|
|
|
|
NM_004370.6(COL12A1):c.4148-15dup
|
rs1227725033
|
|
|
NM_004370.6(COL12A1):c.4148-20C>A
|
rs1767317341
|
|
|
NM_004370.6(COL12A1):c.4159G>A (p.Ala1387Thr)
|
rs2149410743
|
|
|
NM_004370.6(COL12A1):c.4165_4167del (p.Ser1389del)
|
rs1767315080
|
|
|
NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs)
|
rs1582133194
|
|
|
NM_004370.6(COL12A1):c.4177A>G (p.Ile1393Val)
|
rs1582133150
|
|
|
NM_004370.6(COL12A1):c.4177del (p.Ile1393fs)
|
rs1767314344
|
|
|
NM_004370.6(COL12A1):c.4181C>G (p.Ser1394Cys)
|
|
|
|
NM_004370.6(COL12A1):c.4186C>T (p.Arg1396Ter)
|
|
|
|
NM_004370.6(COL12A1):c.4190C>G (p.Thr1397Ser)
|
rs1767312990
|
|
|
NM_004370.6(COL12A1):c.4191C>T (p.Thr1397=)
|
rs754233830
|
|
|
NM_004370.6(COL12A1):c.41C>T (p.Ala14Val)
|
|
|
|
NM_004370.6(COL12A1):c.4221A>G (p.Pro1407=)
|
rs2149410580
|
|
|
NM_004370.6(COL12A1):c.4231_4232del (p.Ser1411fs)
|
|
|
|
NM_004370.6(COL12A1):c.423G>A (p.Leu141=)
|
rs755912419
|
|
|
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)
|
rs1767310072
|
|
|
NM_004370.6(COL12A1):c.4241G>C (p.Arg1414Pro)
|
|
|
|
NM_004370.6(COL12A1):c.4245T>A (p.Tyr1415Ter)
|
|
|
|
NM_004370.6(COL12A1):c.424G>C (p.Val142Leu)
|
|
|
|
NM_004370.6(COL12A1):c.4254A>T (p.Glu1418Asp)
|
|
|
|
NM_004370.6(COL12A1):c.4255T>G (p.Tyr1419Asp)
|
rs758640189
|
|
|
NM_004370.6(COL12A1):c.425T>C (p.Val142Ala)
|
|
|
|
NM_004370.6(COL12A1):c.4261C>A (p.Pro1421Thr)
|
|
|
|
NM_004370.6(COL12A1):c.4263A>G (p.Pro1421=)
|
|
|
|
NM_004370.6(COL12A1):c.4269T>C (p.Ser1423=)
|
rs2149410457
|
|
|
NM_004370.6(COL12A1):c.4271G>A (p.Gly1424Glu)
|
|
|
|
NM_004370.6(COL12A1):c.4279C>A (p.Arg1427Ser)
|
rs779038394
|
|
|
NM_004370.6(COL12A1):c.4281T>A (p.Arg1427=)
|
|
|
|
NM_004370.6(COL12A1):c.4282C>T (p.Gln1428Ter)
|
|
|
|
NM_004370.6(COL12A1):c.4284A>G (p.Gln1428=)
|
rs1767306131
|
|
|
NM_004370.6(COL12A1):c.4287+11A>G
|
|
|
|
NM_004370.6(COL12A1):c.4287+14C>A
|
|
|
|
NM_004370.6(COL12A1):c.4287+15C>G
|
|
|
|
NM_004370.6(COL12A1):c.4287+4A>T
|
rs1767305838
|
|
|
NM_004370.6(COL12A1):c.4288-10T>C
|
rs776440408
|
|
|
NM_004370.6(COL12A1):c.4288-14A>G
|
|
|
|
NM_004370.6(COL12A1):c.4288-15A>G
|
rs2149409487
|
|
|
NM_004370.6(COL12A1):c.4288-19G>C
|
rs1554182346
|
|
|
NM_004370.6(COL12A1):c.4288-6C>G
|
|
|
|
NM_004370.6(COL12A1):c.4288-9T>C
|
rs1582131968
|
|
|
NM_004370.6(COL12A1):c.4290T>C (p.Phe1430=)
|
rs2149409419
|
|
|
NM_004370.6(COL12A1):c.4297A>G (p.Ser1433Gly)
|
|
|
|
NM_004370.6(COL12A1):c.4299T>C (p.Ser1433=)
|
rs975876036
|
|
|
NM_004370.6(COL12A1):c.42G>C (p.Ala14=)
|
|
|
|
NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter)
|
rs1562223444
|
|
|
NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln)
|
rs779064060
|
|
|
NM_004370.6(COL12A1):c.4301G>T (p.Arg1434Leu)
|
rs779064060
|
|
|
NM_004370.6(COL12A1):c.4313G>A (p.Ser1438Asn)
|
rs889393418
|
|
|
NM_004370.6(COL12A1):c.4316C>T (p.Thr1439Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4319T>A (p.Val1440Glu)
|
rs1767273965
|
|
|
NM_004370.6(COL12A1):c.4319T>C (p.Val1440Ala)
|
|
|
|
NM_004370.6(COL12A1):c.4334A>G (p.Lys1445Arg)
|
|
|
|
NM_004370.6(COL12A1):c.4337C>A (p.Pro1446His)
|
|
|
|
NM_004370.6(COL12A1):c.4338T>C (p.Pro1446=)
|
rs2149409308
|
|
|
NM_004370.6(COL12A1):c.4338T>G (p.Pro1446=)
|
|
|
|
NM_004370.6(COL12A1):c.433G>A (p.Val145Met)
|
|
|
|
NM_004370.6(COL12A1):c.4347A>G (p.Glu1449=)
|
|
|
|
NM_004370.6(COL12A1):c.4355T>C (p.Val1452Ala)
|
|
|
|
NM_004370.6(COL12A1):c.4362G>T (p.Val1454=)
|
|
|
|
NM_004370.6(COL12A1):c.4364A>G (p.Tyr1455Cys)
|
rs1582131685
|
|
|
NM_004370.6(COL12A1):c.436G>T (p.Asp146Tyr)
|
rs1394611159
|
|
|
NM_004370.6(COL12A1):c.4377A>G (p.Glu1459=)
|
|
|
|
NM_004370.6(COL12A1):c.4387A>T (p.Ser1463Cys)
|
rs897954123
|
|
|
NM_004370.6(COL12A1):c.4392G>A (p.Glu1464=)
|
rs2149409171
|
|
|
NM_004370.6(COL12A1):c.4393C>G (p.Pro1465Ala)
|
|
|
|
NM_004370.6(COL12A1):c.4394C>T (p.Pro1465Leu)
|
|
|
|
NM_004370.6(COL12A1):c.4401G>A (p.Lys1467=)
|
|
|
|
NM_004370.6(COL12A1):c.4404G>A (p.Gly1468=)
|
|
|
|
NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs)
|
rs1767268002
|
|
|
NM_004370.6(COL12A1):c.4417+2_4417+3del
|
|
|
|
NM_004370.6(COL12A1):c.4417+4A>G
|
rs2149409130
|
|
|
NM_004370.6(COL12A1):c.4417+5G>A
|
|
|
|
NM_004370.6(COL12A1):c.4417+9G>A
|
|
|
|
NM_004370.6(COL12A1):c.4418-18G>C
|
|
|
|
NM_004370.6(COL12A1):c.4418-20C>G
|
rs2149407223
|
|
|
NM_004370.6(COL12A1):c.4419G>A (p.Leu1473=)
|
|
|
|
NM_004370.6(COL12A1):c.4419G>T (p.Leu1473Phe)
|
|
|
|
NM_004370.6(COL12A1):c.4422A>G (p.Pro1474=)
|
rs558383133
|
|
|
NM_004370.6(COL12A1):c.4429G>A (p.Val1477Ile)
|
rs1767188215
|
|
|
NM_004370.6(COL12A1):c.4432G>A (p.Val1478Ile)
|
rs1246887485
|
|
|
NM_004370.6(COL12A1):c.4434C>T (p.Val1478=)
|
|
|
|
NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr)
|
rs760640025
|
|
|
NM_004370.6(COL12A1):c.4447T>C (p.Tyr1483His)
|
|
|
|
NM_004370.6(COL12A1):c.4449T>C (p.Tyr1483=)
|
|
|
|
NM_004370.6(COL12A1):c.4463C>A (p.Thr1488Asn)
|
rs771864984
|
|
|
NM_004370.6(COL12A1):c.4463C>G (p.Thr1488Ser)
|
|
|
|
NM_004370.6(COL12A1):c.4464C>T (p.Thr1488=)
|
rs763276220
|
|
|
NM_004370.6(COL12A1):c.4467C>G (p.Thr1489=)
|
|
|
|
NM_004370.6(COL12A1):c.4473T>C (p.His1491=)
|
|
|
|
NM_004370.6(COL12A1):c.4488T>C (p.Pro1496=)
|
rs2149407078
|
|
|
NM_004370.6(COL12A1):c.4493G>A (p.Gly1498Glu)
|
|
|
|
NM_004370.6(COL12A1):c.4499C>T (p.Ala1500Val)
|
|
|
|
NM_004370.6(COL12A1):c.4502C>T (p.Thr1501Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4505G>A (p.Gly1502Asp)
|
|
|
|
NM_004370.6(COL12A1):c.4506C>G (p.Gly1502=)
|
rs199901074
|
|
|
NM_004370.6(COL12A1):c.4510A>G (p.Ile1504Val)
|
rs1582129070
|
|
|
NM_004370.6(COL12A1):c.4514T>C (p.Leu1505Ser)
|
|
|
|
NM_004370.6(COL12A1):c.4518A>C (p.Ser1506=)
|
|
|
|
NM_004370.6(COL12A1):c.4520A>G (p.Tyr1507Cys)
|
rs1767180643
|
|
|
NM_004370.6(COL12A1):c.4528G>A (p.Val1510Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4537A>G (p.Thr1513Ala)
|
|
|
|
NM_004370.6(COL12A1):c.4546A>G (p.Thr1516Ala)
|
|
|
|
NM_004370.6(COL12A1):c.4560+14G>A
|
|
|
|
NM_004370.6(COL12A1):c.4560+8A>G
|
|
|
|
NM_004370.6(COL12A1):c.4561-18C>T
|
|
|
|
NM_004370.6(COL12A1):c.4561-6G>A
|
rs560550352
|
|
|
NM_004370.6(COL12A1):c.4561-7T>C
|
|
|
|
NM_004370.6(COL12A1):c.4561-7_4561-2del
|
rs1582127639
|
|
|
NM_004370.6(COL12A1):c.4564C>G (p.Arg1522Gly)
|
rs574863380
|
|
|
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys)
|
rs574863380
|
|
|
NM_004370.6(COL12A1):c.4571G>A (p.Gly1524Glu)
|
rs556742432
|
|
|
NM_004370.6(COL12A1):c.4572G>A (p.Gly1524=)
|
rs1767129736
|
|
|
NM_004370.6(COL12A1):c.4574C>T (p.Pro1525Leu)
|
|
|
|
NM_004370.6(COL12A1):c.4578A>G (p.Thr1526=)
|
|
|
|
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met)
|
rs1326246352
|
|
|
NM_004370.6(COL12A1):c.457A>G (p.Arg153Gly)
|
rs2149475927
|
|
|
NM_004370.6(COL12A1):c.4587C>T (p.Asp1529=)
|
rs762128925
|
|
|
NM_004370.6(COL12A1):c.4588A>T (p.Met1530Leu)
|
rs1226808307
|
|
|
NM_004370.6(COL12A1):c.4589T>A (p.Met1530Lys)
|
rs1767128506
|
|
|
NM_004370.6(COL12A1):c.4589T>C (p.Met1530Thr)
|
rs1767128506
|
|
|
NM_004370.6(COL12A1):c.4590G>A (p.Met1530Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4597A>G (p.Thr1533Ala)
|
|
|
|
NM_004370.6(COL12A1):c.459A>G (p.Arg153=)
|
|
|
|
NM_004370.6(COL12A1):c.4600G>A (p.Asp1534Asn)
|
|
|
|
NM_004370.6(COL12A1):c.4609C>T (p.Pro1537Ser)
|
rs1028650601
|
|
|
NM_004370.6(COL12A1):c.4612A>G (p.Asn1538Asp)
|
|
|
|
NM_004370.6(COL12A1):c.4613A>T (p.Asn1538Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4616C>A (p.Thr1539Lys)
|
rs373216375
|
|
|
NM_004370.6(COL12A1):c.4620G>A (p.Glu1540=)
|
|
|
|
NM_004370.6(COL12A1):c.4620G>T (p.Glu1540Asp)
|
rs367865394
|
|
|
NM_004370.6(COL12A1):c.4645C>G (p.Leu1549Val)
|
|
|
|
NM_004370.6(COL12A1):c.4647G>A (p.Leu1549=)
|
|
|
|
NM_004370.6(COL12A1):c.4650C>G (p.His1550Gln)
|
rs754993978
|
|
|
NM_004370.6(COL12A1):c.4650C>T (p.His1550=)
|
|
|
|
NM_004370.6(COL12A1):c.4656C>A (p.Leu1552=)
|
rs2149405550
|
|
|
NM_004370.6(COL12A1):c.466T>G (p.Phe156Val)
|
|
|
|
NM_004370.6(COL12A1):c.4671C>T (p.Val1557=)
|
|
|
|
NM_004370.6(COL12A1):c.4674T>A (p.Thr1558=)
|
rs1767121915
|
|
|
NM_004370.6(COL12A1):c.4676T>C (p.Val1559Ala)
|
rs1562217199
|
|
|
NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)
|
|
|
|
NM_004370.6(COL12A1):c.4681G>A (p.Glu1561Lys)
|
|
|
|
NM_004370.6(COL12A1):c.4689C>T (p.Thr1563=)
|
rs1767120492
|
|
|
NM_004370.6(COL12A1):c.4690+17T>C
|
|
|
|
NM_004370.6(COL12A1):c.4690+19T>C
|
|
|
|
NM_004370.6(COL12A1):c.4690+5G>A
|
rs1767120188
|
|
|
NM_004370.6(COL12A1):c.4690+9C>T
|
|
|
|
NM_004370.6(COL12A1):c.4691-13C>G
|
|
|
|
NM_004370.6(COL12A1):c.4691-13C>T
|
|
|
|
NM_004370.6(COL12A1):c.4691-16T>G
|
rs750281471
|
|
|
NM_004370.6(COL12A1):c.4691-20A>C
|
|
|
|
NM_004370.6(COL12A1):c.4691-8T>A
|
|
|
|
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser)
|
rs1554181762
|
|
|
NM_004370.6(COL12A1):c.4693C>T (p.Pro1565Ser)
|
|
|
|
NM_004370.6(COL12A1):c.4697T>C (p.Leu1566Ser)
|
rs2149402848
|
|
|
NM_004370.6(COL12A1):c.46C>T (p.Leu16=)
|
|
|
|
NM_004370.6(COL12A1):c.4701C>A (p.Pro1567=)
|
rs17791238
|
|
|
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=)
|
rs17791238
|
|
|
NM_004370.6(COL12A1):c.4702A>G (p.Arg1568Gly)
|
rs1767009455
|
|
|
NM_004370.6(COL12A1):c.4705C>T (p.Pro1569Ser)
|
|
|
|
NM_004370.6(COL12A1):c.4714C>A (p.Leu1572Met)
|
|
|
|
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly)
|
rs1490798316
|
|
|
NM_004370.6(COL12A1):c.4724G>A (p.Arg1575Lys)
|
|
|
|
NM_004370.6(COL12A1):c.475A>G (p.Ile159Val)
|
rs548978005
|
|
|
NM_004370.6(COL12A1):c.4761A>G (p.Glu1587=)
|
|
|
|
NM_004370.6(COL12A1):c.4780C>T (p.Arg1594Cys)
|
|
|
|
NM_004370.6(COL12A1):c.4781G>C (p.Arg1594Pro)
|
rs373006852
|
|
|
NM_004370.6(COL12A1):c.4795C>G (p.Arg1599Gly)
|
|
|
|
NM_004370.6(COL12A1):c.4806A>G (p.Thr1602=)
|
rs1361287372
|
|
|
NM_004370.6(COL12A1):c.4810G>A (p.Glu1604Lys)
|
|
|
|
NM_004370.6(COL12A1):c.4827+12A>G
|
|
|
|
NM_004370.6(COL12A1):c.4827+16T>G
|
|
|
|
NM_004370.6(COL12A1):c.4827+3A>G
|
|
|
|
NM_004370.6(COL12A1):c.4828-19T>C
|
|
|
|
NM_004370.6(COL12A1):c.4828-4A>G
|
|
|
|
NM_004370.6(COL12A1):c.4828-8T>C
|
|
|
|
NM_004370.6(COL12A1):c.4839C>A (p.Asp1613Glu)
|
|
|
|
NM_004370.6(COL12A1):c.483C>T (p.Asp161=)
|
rs1769829163
|
|
|
NM_004370.6(COL12A1):c.4849A>C (p.Thr1617Pro)
|
rs750511139
|
|
|
NM_004370.6(COL12A1):c.4851C>G (p.Thr1617=)
|
|
|
|
NM_004370.6(COL12A1):c.4853G>T (p.Ser1618Ile)
|
rs765702033
|
|
|
NM_004370.6(COL12A1):c.4859C>T (p.Ser1620Phe)
|
|
|
|
NM_004370.6(COL12A1):c.4868A>G (p.Asp1623Gly)
|
|
|
|
NM_004370.6(COL12A1):c.4883C>T (p.Thr1628Ile)
|
rs368180489
|
|
|
NM_004370.6(COL12A1):c.4888T>C (p.Tyr1630His)
|
rs759038011
|
|
|
NM_004370.6(COL12A1):c.488T>C (p.Ile163Thr)
|
|
|
|
NM_004370.6(COL12A1):c.4891A>T (p.Thr1631Ser)
|
rs773883741
|
|
|
NM_004370.6(COL12A1):c.4898G>A (p.Ser1633Asn)
|
|
|
|
NM_004370.6(COL12A1):c.489T>C (p.Ile163=)
|
|
|
|
NM_004370.6(COL12A1):c.4913A>C (p.His1638Pro)
|
|
|
|
NM_004370.6(COL12A1):c.4918G>C (p.Glu1640Gln)
|
|
|
|
NM_004370.6(COL12A1):c.4924G>T (p.Glu1642Ter)
|
|
|
|
NM_004370.6(COL12A1):c.4929T>G (p.Ser1643=)
|
|
|
|
NM_004370.6(COL12A1):c.4930C>T (p.Pro1644Ser)
|
|
|
|
NM_004370.6(COL12A1):c.4935A>G (p.Pro1645=)
|
|
|
|
NM_004370.6(COL12A1):c.4954_4957+2dup
|
|
|
|
NM_004370.6(COL12A1):c.4956C>G (p.Thr1652=)
|
|
|
|
NM_004370.6(COL12A1):c.4957+11_4957+12inv
|
|
|
|
NM_004370.6(COL12A1):c.4958-16C>T
|
|
|
|
NM_004370.6(COL12A1):c.4958-4A>T
|
|
|
|
NM_004370.6(COL12A1):c.4958-7A>G
|
rs1332779
|
|
|
NM_004370.6(COL12A1):c.4963G>T (p.Val1655Leu)
|
|
|
|
NM_004370.6(COL12A1):c.4970C>A (p.Ala1657Asp)
|
rs1766760179
|
|
|
NM_004370.6(COL12A1):c.4970C>T (p.Ala1657Val)
|
|
|
|
NM_004370.6(COL12A1):c.4973dup (p.Thr1659fs)
|
|
|
|
NM_004370.6(COL12A1):c.4975A>G (p.Thr1659Ala)
|
|
|
|
NM_004370.6(COL12A1):c.4978A>C (p.Asn1660His)
|
|
|
|
NM_004370.6(COL12A1):c.4979A>T (p.Asn1660Ile)
|
|
|
|
NM_004370.6(COL12A1):c.4995A>C (p.Glu1665Asp)
|
rs1582115930
|
|
|
NM_004370.6(COL12A1):c.5010T>G (p.Gly1670=)
|
|
|
|
NM_004370.6(COL12A1):c.5011T>C (p.Phe1671Leu)
|
rs1766757762
|
|
|
NM_004370.6(COL12A1):c.5019del (p.Thr1674fs)
|
|
|
|
NM_004370.6(COL12A1):c.502T>G (p.Ser168Ala)
|
rs2149475862
|
|
|
NM_004370.6(COL12A1):c.5035G>T (p.Ala1679Ser)
|
rs550455854
|
|
|
NM_004370.6(COL12A1):c.5038T>C (p.Ser1680Pro)
|
|
|
|
NM_004370.6(COL12A1):c.5040A>G (p.Ser1680=)
|
|
|
|
NM_004370.6(COL12A1):c.5045T>C (p.Val1682Ala)
|
|
|
|
NM_004370.6(COL12A1):c.5049T>C (p.Ser1683=)
|
|
|
|
NM_004370.6(COL12A1):c.504T>G (p.Ser168=)
|
rs371436873
|
|
|
NM_004370.6(COL12A1):c.5071C>A (p.Pro1691Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5083T>A (p.Ser1695Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5093T>C (p.Met1698Thr)
|
rs749443694
|
|
|
NM_004370.6(COL12A1):c.5095G>A (p.Glu1699Lys)
|
rs1369964113
|
|
|
NM_004370.6(COL12A1):c.5097+11C>A
|
|
|
|
NM_004370.6(COL12A1):c.5097+1G>A
|
|
|
|
NM_004370.6(COL12A1):c.5097+20T>G
|
|
|
|
NM_004370.6(COL12A1):c.5097+6T>A
|
|
|
|
NM_004370.6(COL12A1):c.5098-10T>C
|
rs968352189
|
|
|
NM_004370.6(COL12A1):c.5098-17T>C
|
|
|
|
NM_004370.6(COL12A1):c.5098-19T>C
|
|
|
|
NM_004370.6(COL12A1):c.5109T>C (p.Asn1703=)
|
|
|
|
NM_004370.6(COL12A1):c.5111G>A (p.Gly1704Glu)
|
|
|
|
NM_004370.6(COL12A1):c.5115T>G (p.Asp1705Glu)
|
|
|
|
NM_004370.6(COL12A1):c.512A>T (p.Asp171Val)
|
rs2149475842
|
|
|
NM_004370.6(COL12A1):c.5147C>T (p.Pro1716Leu)
|
|
|
|
NM_004370.6(COL12A1):c.5157C>T (p.Ile1719=)
|
rs1766737359
|
|
|
NM_004370.6(COL12A1):c.5158T>A (p.Tyr1720Asn)
|
rs1766737229
|
|
|
NM_004370.6(COL12A1):c.5167T>C (p.Ser1723Pro)
|
|
|
|
NM_004370.6(COL12A1):c.5173A>G (p.Thr1725Ala)
|
|
|
|
NM_004370.6(COL12A1):c.5180T>C (p.Ile1727Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala)
|
rs750726658
|
|
|
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly)
|
rs762021815
|
|
|
NM_004370.6(COL12A1):c.5208C>T (p.Asp1736=)
|
|
|
|
NM_004370.6(COL12A1):c.5209C>G (p.Leu1737Val)
|
rs769221057
|
|
|
NM_004370.6(COL12A1):c.5215G>A (p.Gly1739Ser)
|
|
|
|
NM_004370.6(COL12A1):c.5215G>T (p.Gly1739Cys)
|
|
|
|
NM_004370.6(COL12A1):c.5224C>A (p.Arg1742Ser)
|
rs530680231
|
|
|
NM_004370.6(COL12A1):c.5230+12G>A
|
|
|
|
NM_004370.6(COL12A1):c.5230+17C>T
|
|
|
|
NM_004370.6(COL12A1):c.5230+20A>C
|
|
|
|
NM_004370.6(COL12A1):c.5230C>A (p.Leu1744Met)
|
|
|
|
NM_004370.6(COL12A1):c.5231-8T>C
|
rs1766724577
|
|
|
NM_004370.6(COL12A1):c.5231-9_5231-8del
|
|
|
|
NM_004370.6(COL12A1):c.5232G>A (p.Leu1744=)
|
rs979503995
|
|
|
NM_004370.6(COL12A1):c.5247A>G (p.Thr1749=)
|
|
|
|
NM_004370.6(COL12A1):c.5252-11T>C
|
|
|
|
NM_004370.6(COL12A1):c.5252-14C>T
|
|
|
|
NM_004370.6(COL12A1):c.5252-7C>A
|
|
|
|
NM_004370.6(COL12A1):c.5256C>G (p.Pro1752=)
|
|
|
|
NM_004370.6(COL12A1):c.5269C>T (p.Arg1757Ter)
|
|
|
|
NM_004370.6(COL12A1):c.5270G>A (p.Arg1757Gln)
|
|
|
|
NM_004370.6(COL12A1):c.5274C>T (p.Asn1758=)
|
|
|
|
NM_004370.6(COL12A1):c.527A>G (p.Lys176Arg)
|
|
|
|
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)
|
rs755536829
|
|
|
NM_004370.6(COL12A1):c.5297C>T (p.Ser1766Phe)
|
|
|
|
NM_004370.6(COL12A1):c.529A>G (p.Thr177Ala)
|
|
|
|
NM_004370.6(COL12A1):c.5310T>C (p.Thr1770=)
|
rs2149394288
|
|
|
NM_004370.6(COL12A1):c.5323C>A (p.Pro1775Thr)
|
rs2149394273
|
|
|
NM_004370.6(COL12A1):c.5336G>C (p.Arg1779Pro)
|
rs748487098
|
|
|
NM_004370.6(COL12A1):c.5338G>A (p.Val1780Met)
|
rs1766678485
|
|
|
NM_004370.6(COL12A1):c.5342A>G (p.Gln1781Arg)
|
|
|
|
NM_004370.6(COL12A1):c.5349T>C (p.Tyr1783=)
|
|
|
|
NM_004370.6(COL12A1):c.5359T>C (p.Tyr1787His)
|
|
|
|
NM_004370.6(COL12A1):c.535G>A (p.Val179Ile)
|
|
|
|
NM_004370.6(COL12A1):c.5366C>T (p.Pro1789Leu)
|
rs1766675850
|
|
|
NM_004370.6(COL12A1):c.5373A>G (p.Thr1791=)
|
|
|
|
NM_004370.6(COL12A1):c.5374G>A (p.Gly1792Arg)
|
|
|
|
NM_004370.6(COL12A1):c.5379A>G (p.Glu1793=)
|
rs2149394158
|
|
|
NM_004370.6(COL12A1):c.5380G>A (p.Gly1794Ser)
|
rs2149394149
|
|
|
NM_004370.6(COL12A1):c.5384A>G (p.Asn1795Ser)
|
|
|
|
NM_004370.6(COL12A1):c.5392A>T (p.Thr1798Ser)
|
|
|
|
NM_004370.6(COL12A1):c.5393C>A (p.Thr1798Lys)
|
rs370767331
|
|
|
NM_004370.6(COL12A1):c.5394+10dup
|
|
|
|
NM_004370.6(COL12A1):c.5394+14A>G
|
|
|
|
NM_004370.6(COL12A1):c.5394+15A>C
|
|
|
|
NM_004370.6(COL12A1):c.5394+5T>G
|
|
|
|
NM_004370.6(COL12A1):c.5394G>A (p.Thr1798=)
|
|
|
|
NM_004370.6(COL12A1):c.5395-10T>C
|
|
|
|
NM_004370.6(COL12A1):c.5395-14C>G
|
|
|
|
NM_004370.6(COL12A1):c.5395-17G>A
|
|
|
|
NM_004370.6(COL12A1):c.5398A>G (p.Thr1800Ala)
|
|
|
|
NM_004370.6(COL12A1):c.5403A>C (p.Ile1801=)
|
rs1470703983
|
|
|
NM_004370.6(COL12A1):c.5403A>G (p.Ile1801Met)
|
|
|
|
NM_004370.6(COL12A1):c.5408G>A (p.Gly1803Glu)
|
rs754812998
|
|
|
NM_004370.6(COL12A1):c.5436A>G (p.Lys1812=)
|
|
|
|
NM_004370.6(COL12A1):c.5443C>T (p.Pro1815Ser)
|
|
|
|
NM_004370.6(COL12A1):c.5447A>T (p.Asp1816Val)
|
|
|
|
NM_004370.6(COL12A1):c.544G>A (p.Val182Ile)
|
rs1769824140
|
|
|
NM_004370.6(COL12A1):c.5452C>A (p.Pro1818Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5457C>T (p.Tyr1819=)
|
|
|
|
NM_004370.6(COL12A1):c.5458A>C (p.Thr1820Pro)
|
|
|
|
NM_004370.6(COL12A1):c.5460T>A (p.Thr1820=)
|
rs1003584679
|
|
|
NM_004370.6(COL12A1):c.5461A>G (p.Ile1821Val)
|
|
|
|
NM_004370.6(COL12A1):c.5466C>G (p.Thr1822=)
|
rs373978519
|
|
|
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile)
|
rs201408175
|
|
|
NM_004370.6(COL12A1):c.5467G>T (p.Val1823Leu)
|
|
|
|
NM_004370.6(COL12A1):c.546T>G (p.Val182=)
|
rs764254293
|
|
|
NM_004370.6(COL12A1):c.5475T>G (p.Ser1825=)
|
rs766269568
|
|
|
NM_004370.6(COL12A1):c.5486A>G (p.Asp1829Gly)
|
rs1419443025
|
|
|
NM_004370.6(COL12A1):c.5499T>C (p.Gly1833=)
|
rs1582107388
|
|
|
NM_004370.6(COL12A1):c.549A>G (p.Gln183=)
|
|
|
|
NM_004370.6(COL12A1):c.54del (p.Ser19fs)
|
|
|
|
NM_004370.6(COL12A1):c.5500C>G (p.Arg1834Gly)
|
rs775456254
|
|
|
NM_004370.6(COL12A1):c.5500C>T (p.Arg1834Trp)
|
|
|
|
NM_004370.6(COL12A1):c.5504T>A (p.Met1835Lys)
|
rs374927144
|
|
|
NM_004370.6(COL12A1):c.5514_5516dup (p.Gly1839dup)
|
rs1766496347
|
|
|
NM_004370.6(COL12A1):c.5516G>T (p.Gly1839Val)
|
rs2149389596
|
|
|
NM_004370.6(COL12A1):c.5519A>C (p.Lys1840Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5521A>C (p.Thr1841Pro)
|
|
|
|
NM_004370.6(COL12A1):c.5523C>A (p.Thr1841=)
|
|
|
|
NM_004370.6(COL12A1):c.5524+10A>G
|
|
|
|
NM_004370.6(COL12A1):c.5524+13T>G
|
|
|
|
NM_004370.6(COL12A1):c.5525-11G>A
|
|
|
|
NM_004370.6(COL12A1):c.5525-18G>T
|
|
|
|
NM_004370.6(COL12A1):c.5525-20G>A
|
|
|
|
NM_004370.6(COL12A1):c.5525-6T>A
|
|
|
|
NM_004370.6(COL12A1):c.553A>T (p.Ser185Cys)
|
rs1769823295
|
|
|
NM_004370.6(COL12A1):c.5547C>A (p.Asn1849Lys)
|
rs1235141094
|
|
|
NM_004370.6(COL12A1):c.554G>A (p.Ser185Asn)
|
rs2149475753
|
|
|
NM_004370.6(COL12A1):c.5554G>C (p.Val1852Leu)
|
|
|
|
NM_004370.6(COL12A1):c.5562C>A (p.Asp1854Glu)
|
rs543663005
|
|
|
NM_004370.6(COL12A1):c.5571C>T (p.Thr1857=)
|
|
|
|
NM_004370.6(COL12A1):c.5572A>T (p.Ser1858Cys)
|
|
|
|
NM_004370.6(COL12A1):c.5573G>C (p.Ser1858Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5574C>A (p.Ser1858Arg)
|
|
|
|
NM_004370.6(COL12A1):c.5582A>G (p.Asn1861Ser)
|
rs1160822324
|
|
|
NM_004370.6(COL12A1):c.5583T>A (p.Asn1861Lys)
|
|
|
|
NM_004370.6(COL12A1):c.5588G>A (p.Arg1863His)
|
|
|
|
NM_004370.6(COL12A1):c.5588G>T (p.Arg1863Leu)
|
rs377417661
|
|
|
NM_004370.6(COL12A1):c.5600C>T (p.Ala1867Val)
|
|
|
|
NM_004370.6(COL12A1):c.5603A>T (p.Glu1868Val)
|
rs1370422060
|
|
|
NM_004370.6(COL12A1):c.5610T>C (p.Asn1870=)
|
rs2149388082
|
|
|
NM_004370.6(COL12A1):c.5614C>G (p.Arg1872Gly)
|
rs773807635
|
|
|
NM_004370.6(COL12A1):c.561T>C (p.Asp187=)
|
|
|
|
NM_004370.6(COL12A1):c.5632T>C (p.Tyr1878His)
|
|
|
|
NM_004370.6(COL12A1):c.5633A>G (p.Tyr1878Cys)
|
|
|
|
NM_004370.6(COL12A1):c.5647G>T (p.Gly1883Cys)
|
|
|
|
NM_004370.6(COL12A1):c.5656G>C (p.Glu1886Gln)
|
rs1242897212
|
|
|
NM_004370.6(COL12A1):c.5659G>A (p.Glu1887Lys)
|
rs1766437313
|
|
|
NM_004370.6(COL12A1):c.5662C>T (p.Leu1888=)
|
|
|
|
NM_004370.6(COL12A1):c.5664+16_5664+35del
|
rs1333051927
|
|
|
NM_004370.6(COL12A1):c.5664+1G>A
|
rs1766437216
|
|
|
NM_004370.6(COL12A1):c.5664+3A>G
|
rs2149387981
|
|
|
NM_004370.6(COL12A1):c.5665-19G>A
|
rs903881382
|
|
|
NM_004370.6(COL12A1):c.5665-4T>C
|
|
|
|
NM_004370.6(COL12A1):c.5665-6C>A
|
|
|
|
NM_004370.6(COL12A1):c.5672T>C (p.Ile1891Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5677G>C (p.Gly1893Arg)
|
|
|
|
NM_004370.6(COL12A1):c.5679G>C (p.Gly1893=)
|
|
|
|
NM_004370.6(COL12A1):c.567G>A (p.Arg189=)
|
|
|
|
NM_004370.6(COL12A1):c.5681A>G (p.Asn1894Ser)
|
rs2149387327
|
|
|
NM_004370.6(COL12A1):c.5692G>A (p.Ala1898Thr)
|
rs2149387306
|
|
|
NM_004370.6(COL12A1):c.5694C>T (p.Ala1898=)
|
|
|
|
NM_004370.6(COL12A1):c.5713C>T (p.Pro1905Ser)
|
rs1766408982
|
|
|
NM_004370.6(COL12A1):c.5723C>T (p.Ser1908Leu)
|
|
|
|
NM_004370.6(COL12A1):c.5730T>C (p.Thr1910=)
|
rs1582103755
|
|
|
NM_004370.6(COL12A1):c.5736T>G (p.Thr1912=)
|
|
|
|
NM_004370.6(COL12A1):c.5737G>A (p.Val1913Ile)
|
|
|
|
NM_004370.6(COL12A1):c.5745C>A (p.Pro1915=)
|
|
|
|
NM_004370.6(COL12A1):c.5745C>T (p.Pro1915=)
|
rs780813171
|
|
|
NM_004370.6(COL12A1):c.5751T>C (p.Tyr1917=)
|
|
|
|
NM_004370.6(COL12A1):c.5752A>G (p.Thr1918Ala)
|
rs1766405494
|
|
|
NM_004370.6(COL12A1):c.5756A>T (p.Glu1919Val)
|
rs2149387143
|
|
|
NM_004370.6(COL12A1):c.5761G>A (p.Asp1921Asn)
|
rs1766404958
|
|
|
NM_004370.6(COL12A1):c.5768G>C (p.Gly1923Ala)
|
|
|
|
NM_004370.6(COL12A1):c.5790G>A (p.Arg1930=)
|
|
|
|
NM_004370.6(COL12A1):c.5790G>C (p.Arg1930Ser)
|
rs2149387040
|
|
|
NM_004370.6(COL12A1):c.5793A>C (p.Thr1931=)
|
rs199632288
|
|
|
NM_004370.6(COL12A1):c.5794+13G>A
|
|
|
|
NM_004370.6(COL12A1):c.5794+17A>G
|
|
|
|
NM_004370.6(COL12A1):c.5794T>C (p.Leu1932=)
|
|
|
|
NM_004370.6(COL12A1):c.5795-16G>A
|
|
|
|
NM_004370.6(COL12A1):c.5795-2A>C
|
|
|
|
NM_004370.6(COL12A1):c.5800A>G (p.Arg1934Gly)
|
rs1474687066
|
|
|
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr)
|
rs1562184031
|
|
|
NM_004370.6(COL12A1):c.580T>C (p.Leu194=)
|
rs2149475695
|
|
|
NM_004370.6(COL12A1):c.5817T>C (p.Asn1939=)
|
|
|
|
NM_004370.6(COL12A1):c.5823del (p.Val1942fs)
|
|
|
|
NM_004370.6(COL12A1):c.5826A>G (p.Val1942=)
|
|
|
|
NM_004370.6(COL12A1):c.5827T>C (p.Tyr1943His)
|
|
|
|
NM_004370.6(COL12A1):c.5837C>T (p.Thr1946Ile)
|
rs2149385416
|
|
|
NM_004370.6(COL12A1):c.5839C>T (p.Pro1947Ser)
|
rs191233787
|
|
|
NM_004370.6(COL12A1):c.5840C>T (p.Pro1947Leu)
|
rs768626277
|
|
|
NM_004370.6(COL12A1):c.5846G>A (p.Ser1949Asn)
|
|
|
|
NM_004370.6(COL12A1):c.5851G>A (p.Asp1951Asn)
|
rs771175230
|
|
|
NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly)
|
rs1766324604
|
|
|
NM_004370.6(COL12A1):c.5858G>A (p.Arg1953His)
|
|
|
|
NM_004370.6(COL12A1):c.5858G>T (p.Arg1953Leu)
|
|
|
|
NM_004370.6(COL12A1):c.5863G>A (p.Asp1955Asn)
|
rs2149385355
|
|
|
NM_004370.6(COL12A1):c.5863G>T (p.Asp1955Tyr)
|
rs2149385355
|
|
|
NM_004370.6(COL12A1):c.5865C>G (p.Asp1955Glu)
|
|
|
|
NM_004370.6(COL12A1):c.5869G>A (p.Ala1957Thr)
|
|
|
|
NM_004370.6(COL12A1):c.5871T>G (p.Ala1957=)
|
rs594012
|
|
|
NM_004370.6(COL12A1):c.5881G>A (p.Val1961Met)
|
rs536233725
|
|
|
NM_004370.6(COL12A1):c.5885T>C (p.Leu1962Pro)
|
|
|
|
NM_004370.6(COL12A1):c.588G>T (p.Gln196His)
|
|
|
|
NM_004370.6(COL12A1):c.5891A>G (p.Tyr1964Cys)
|
rs920578725
|
|
|
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser)
|
rs200487396
|
|
|
NM_004370.6(COL12A1):c.5894G>A (p.Arg1965His)
|
|
|
|
NM_004370.6(COL12A1):c.5899G>A (p.Val1967Met)
|
|
|
|
NM_004370.6(COL12A1):c.5900T>A (p.Val1967Glu)
|
|
|
|
NM_004370.6(COL12A1):c.5903A>G (p.Tyr1968Cys)
|
|
|
|
NM_004370.6(COL12A1):c.5905T>C (p.Ser1969Pro)
|
rs2149385256
|
|
|
NM_004370.6(COL12A1):c.5912T>C (p.Val1971Ala)
|
|
|
|
NM_004370.6(COL12A1):c.5934A>T (p.Glu1978Asp)
|
|
|
|
NM_004370.6(COL12A1):c.5937+14T>A
|
rs2149385207
|
|
|
NM_004370.6(COL12A1):c.5937+17T>C
|
rs1023564287
|
|
|
NM_004370.6(COL12A1):c.5938-9C>G
|
|
|
|
NM_004370.6(COL12A1):c.5938-9C>T
|
rs1166562974
|
|
|
NM_004370.6(COL12A1):c.5939T>A (p.Ile1980Lys)
|
|
|
|
NM_004370.6(COL12A1):c.5940AGT[1] (p.Val1982del)
|
rs1766274789
|
|
|
NM_004370.6(COL12A1):c.5943A>G (p.Val1981=)
|
|
|
|
NM_004370.6(COL12A1):c.5949A>C (p.Pro1983=)
|
rs770005423
|
|
|
NM_004370.6(COL12A1):c.5953A>G (p.Asn1985Asp)
|
|
|
|
NM_004370.6(COL12A1):c.5954A>G (p.Asn1985Ser)
|
rs373170333
|
|
|
NM_004370.6(COL12A1):c.5960G>A (p.Arg1987His)
|
|
|
|
NM_004370.6(COL12A1):c.5965G>A (p.Val1989Met)
|
|
|
|
NM_004370.6(COL12A1):c.5967G>A (p.Val1989=)
|
|
|
|
NM_004370.6(COL12A1):c.5970T>C (p.His1990=)
|
|
|
|
NM_004370.6(COL12A1):c.5982G>A (p.Leu1994=)
|
|
|
|
NM_004370.6(COL12A1):c.5988G>A (p.Pro1996=)
|
|
|
|
NM_004370.6(COL12A1):c.598A>G (p.Arg200Gly)
|
|
|
|
NM_004370.6(COL12A1):c.5992A>G (p.Thr1998Ala)
|
|
|
|
NM_004370.6(COL12A1):c.5994A>G (p.Thr1998=)
|
|
|
|
NM_004370.6(COL12A1):c.5997C>G (p.Leu1999=)
|
rs111547439
|
|
|
NM_004370.6(COL12A1):c.5999A>G (p.Tyr2000Cys)
|
rs1400789071
|
|
|
NM_004370.6(COL12A1):c.5G>A (p.Arg2Gln)
|
rs1265886692
|
|
|
NM_004370.6(COL12A1):c.5G>C (p.Arg2Pro)
|
|
|
|
NM_004370.6(COL12A1):c.6002C>G (p.Ser2001Cys)
|
rs1766270191
|
|
|
NM_004370.6(COL12A1):c.600G>A (p.Arg200=)
|
rs2149475654
|
|
|
NM_004370.6(COL12A1):c.6010C>T (p.Leu2004Phe)
|
|
|
|
NM_004370.6(COL12A1):c.6027G>A (p.Ser2009=)
|
|
|
|
NM_004370.6(COL12A1):c.602A>G (p.Asp201Gly)
|
|
|
|
NM_004370.6(COL12A1):c.602A>T (p.Asp201Val)
|
|
|
|
NM_004370.6(COL12A1):c.6030T>G (p.Asp2010Glu)
|
rs1013402934
|
|
|
NM_004370.6(COL12A1):c.6054C>T (p.Ala2018=)
|
|
|
|
NM_004370.6(COL12A1):c.6060C>T (p.Gly2020=)
|
|
|
|
NM_004370.6(COL12A1):c.6061C>T (p.Arg2021Ter)
|
|
|
|
NM_004370.6(COL12A1):c.6064A>T (p.Thr2022Ser)
|
rs780638272
|
|
|
NM_004370.6(COL12A1):c.6065C>T (p.Thr2022Met)
|
rs1766265495
|
|
|
NM_004370.6(COL12A1):c.6067+12A>G
|
|
|
|
NM_004370.6(COL12A1):c.6067+19C>A
|
|
|
|
NM_004370.6(COL12A1):c.6067+1G>A
|
rs1766265062
|
|
|
NM_004370.6(COL12A1):c.6068-15A>G
|
|
|
|
NM_004370.6(COL12A1):c.6068-16T>C
|
|
|
|
NM_004370.6(COL12A1):c.6068-20A>G
|
|
|
|
NM_004370.6(COL12A1):c.6074G>T (p.Arg2025Leu)
|
|
|
|
NM_004370.6(COL12A1):c.6084A>C (p.Pro2028=)
|
|
|
|
NM_004370.6(COL12A1):c.6093G>C (p.Leu2031=)
|
rs909100621
|
|
|
NM_004370.6(COL12A1):c.6094A>T (p.Arg2032Ter)
|
|
|
|
NM_004370.6(COL12A1):c.6108A>C (p.Glu2036Asp)
|
|
|
|
NM_004370.6(COL12A1):c.6124T>A (p.Ser2042Thr)
|
|
|
|
NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter)
|
rs767845062
|
|
|
NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu)
|
|
|
|
NM_004370.6(COL12A1):c.6126G>A (p.Ser2042=)
|
|
|
|
NM_004370.6(COL12A1):c.6128T>C (p.Val2043Ala)
|
|
|
|
NM_004370.6(COL12A1):c.6140A>G (p.His2047Arg)
|
rs569212577
|
|
|
NM_004370.6(COL12A1):c.6144T>A (p.Ala2048=)
|
|
|
|
NM_004370.6(COL12A1):c.6147T>G (p.Asp2049Glu)
|
rs200777154
|
|
|
NM_004370.6(COL12A1):c.614C>T (p.Ala205Val)
|
|
|
|
NM_004370.6(COL12A1):c.6158A>G (p.Gln2053Arg)
|
|
|
|
NM_004370.6(COL12A1):c.6165C>A (p.Tyr2055Ter)
|
|
|
|
NM_004370.6(COL12A1):c.6171C>T (p.Ile2057=)
|
|
|
|
NM_004370.6(COL12A1):c.6188T>C (p.Val2063Ala)
|
|
|
|
NM_004370.6(COL12A1):c.6196C>A (p.Pro2066Thr)
|
rs1766227819
|
|
|
NM_004370.6(COL12A1):c.6210+10A>T
|
|
|
|
NM_004370.6(COL12A1):c.6210+16A>G
|
|
|
|
NM_004370.6(COL12A1):c.6210+17T>C
|
|
|
|
NM_004370.6(COL12A1):c.6210+20A>T
|
rs377223538
|
|
|
NM_004370.6(COL12A1):c.6211-10T>A
|
|
|
|
NM_004370.6(COL12A1):c.6211-19A>C
|
|
|
|
NM_004370.6(COL12A1):c.6211-6C>G
|
|
|
|
NM_004370.6(COL12A1):c.6221C>G (p.Pro2074Arg)
|
|
|
|
NM_004370.6(COL12A1):c.6223G>A (p.Gly2075Ser)
|
rs1253942397
|
|
|
NM_004370.6(COL12A1):c.6230G>A (p.Arg2077Lys)
|
rs769518059
|
|
|
NM_004370.6(COL12A1):c.6231A>C (p.Arg2077Ser)
|
|
|
|
NM_004370.6(COL12A1):c.623A>G (p.Lys208Arg)
|
rs2149475605
|
|
|
NM_004370.6(COL12A1):c.6243A>G (p.Ile2081Met)
|
rs1766123299
|
|
|
NM_004370.6(COL12A1):c.6244C>T (p.Leu2082=)
|
|
|
|
NM_004370.6(COL12A1):c.6246G>T (p.Leu2082=)
|
|
|
|
NM_004370.6(COL12A1):c.6254T>C (p.Leu2085Pro)
|
|
|
|
NM_004370.6(COL12A1):c.6266C>T (p.Thr2089Ile)
|
|
|
|
NM_004370.6(COL12A1):c.6276A>C (p.Lys2092Asn)
|
rs1403624483
|
|
|
NM_004370.6(COL12A1):c.6276A>G (p.Lys2092=)
|
|
|
|
NM_004370.6(COL12A1):c.629T>C (p.Ile210Thr)
|
|
|
|
NM_004370.6(COL12A1):c.6309T>C (p.Asp2103=)
|
rs2149379927
|
|
|
NM_004370.6(COL12A1):c.6312T>C (p.Gly2104=)
|
|
|
|
NM_004370.6(COL12A1):c.6318T>C (p.His2106=)
|
|
|
|
NM_004370.6(COL12A1):c.6325G>A (p.Gly2109Arg)
|
rs1766116749
|
|
|
NM_004370.6(COL12A1):c.6330T>G (p.Asn2110Lys)
|
|
|
|
NM_004370.6(COL12A1):c.6338C>T (p.Thr2113Ile)
|
|
|
|
NM_004370.6(COL12A1):c.6339T>C (p.Thr2113=)
|
rs1766115548
|
|
|
NM_004370.6(COL12A1):c.6340+12G>C
|
|
|
|
NM_004370.6(COL12A1):c.6340+14A>G
|
|
|
|
NM_004370.6(COL12A1):c.6341-9T>A
|
rs1562169801
|
|
|
NM_004370.6(COL12A1):c.6343G>A (p.Gly2115Arg)
|
rs1766019017
|
|
|
NM_004370.6(COL12A1):c.634T>C (p.Tyr212His)
|
rs1424010902
|
|
|
NM_004370.6(COL12A1):c.6378C>T (p.Asp2126=)
|
rs371734128
|
|
|
NM_004370.6(COL12A1):c.637A>G (p.Lys213Glu)
|
rs1769818108
|
|
|
NM_004370.6(COL12A1):c.6382T>C (p.Trp2128Arg)
|
|
|
|
NM_004370.6(COL12A1):c.6386A>G (p.Tyr2129Cys)
|
rs1402262599
|
|
|
NM_004370.6(COL12A1):c.6389C>G (p.Thr2130Arg)
|
|
|
|
NM_004370.6(COL12A1):c.6409G>C (p.Asp2137His)
|
|
|
|
NM_004370.6(COL12A1):c.641G>T (p.Gly214Val)
|
rs1582209053
|
|
|
NM_004370.6(COL12A1):c.6424C>A (p.Pro2142Thr)
|
rs1766015017
|
|
|
NM_004370.6(COL12A1):c.6435A>T (p.Gly2145=)
|
rs757397618
|
|
|
NM_004370.6(COL12A1):c.6445G>T (p.Val2149Leu)
|
rs1277921609
|
|
|
NM_004370.6(COL12A1):c.6449A>G (p.Tyr2150Cys)
|
rs1469571574
|
|
|
NM_004370.6(COL12A1):c.644G>A (p.Gly215Asp)
|
|
|
|
NM_004370.6(COL12A1):c.6458T>C (p.Val2153Ala)
|
|
|
|
NM_004370.6(COL12A1):c.6460+10_6460+11dup
|
rs2149377067
|
|
|
NM_004370.6(COL12A1):c.6460+6G>A
|
|
|
|
NM_004370.6(COL12A1):c.6463T>A (p.Ser2155Thr)
|
|
|
|
NM_004370.6(COL12A1):c.6467A>G (p.Asn2156Ser)
|
rs1582089703
|
|
|
NM_004370.6(COL12A1):c.6475A>T (p.Met2159Leu)
|
rs1582089675
|
|
|
NM_004370.6(COL12A1):c.6476T>C (p.Met2159Thr)
|
rs920759306
|
|
|
NM_004370.6(COL12A1):c.647A>G (p.Asn216Ser)
|
rs2149475535
|
|
|
NM_004370.6(COL12A1):c.6494A>G (p.Glu2165Gly)
|
|
|
|
NM_004370.6(COL12A1):c.6500C>A (p.Thr2167Lys)
|
rs2149375589
|
|
|
NM_004370.6(COL12A1):c.6501A>T (p.Thr2167=)
|
|
|
|
NM_004370.6(COL12A1):c.6518A>G (p.Asn2173Ser)
|
|
|
|
NM_004370.6(COL12A1):c.652A>G (p.Met218Val)
|
rs2149475531
|
|
|
NM_004370.6(COL12A1):c.653T>G (p.Met218Arg)
|
rs756215547
|
|
|
NM_004370.6(COL12A1):c.6541G>T (p.Asp2181Tyr)
|
|
|
|
NM_004370.6(COL12A1):c.6550G>A (p.Val2184Ile)
|
|
|
|
NM_004370.6(COL12A1):c.6558T>A (p.Ala2186=)
|
rs1486712607
|
|
|
NM_004370.6(COL12A1):c.6559C>A (p.Gln2187Lys)
|
|
|
|
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe)
|
rs1765951451
|
|
|
NM_004370.6(COL12A1):c.658+10A>G
|
rs2149475491
|
|
|
NM_004370.6(COL12A1):c.658+13G>A
|
|
|
|
NM_004370.6(COL12A1):c.658+13G>T
|
|
|
|
NM_004370.6(COL12A1):c.658+6T>C
|
|
|
|
NM_004370.6(COL12A1):c.6584C>G (p.Pro2195Arg)
|
|
|
|
NM_004370.6(COL12A1):c.659-8C>T
|
|
|
|
NM_004370.6(COL12A1):c.6607+14A>T
|
|
|
|
NM_004370.6(COL12A1):c.6607+16T>A
|
|
|
|
NM_004370.6(COL12A1):c.6607+7C>T
|
|
|
|
NM_004370.6(COL12A1):c.6608-19T>C
|
rs2149374329
|
|
|
NM_004370.6(COL12A1):c.6609A>G (p.Leu2203=)
|
|
|
|
NM_004370.6(COL12A1):c.6611A>G (p.Tyr2204Cys)
|
|
|
|
NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter)
|
rs1765909471
|
|
|
NM_004370.6(COL12A1):c.6624A>G (p.Thr2208=)
|
|
|
|
NM_004370.6(COL12A1):c.6635C>T (p.Thr2212Ile)
|
|
|
|
NM_004370.6(COL12A1):c.6639C>T (p.Tyr2213=)
|
|
|
|
NM_004370.6(COL12A1):c.6640C>G (p.Gln2214Glu)
|
rs773548520
|
|
|
NM_004370.6(COL12A1):c.6642G>C (p.Gln2214His)
|
|
|
|
NM_004370.6(COL12A1):c.6647G>A (p.Gly2216Glu)
|
rs761964344
|
|
|
NM_004370.6(COL12A1):c.6660C>G (p.Phe2220Leu)
|
rs1562164671
|
|
|
NM_004370.6(COL12A1):c.6662G>C (p.Cys2221Ser)
|
rs2149374223
|
|
|
NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp)
|
rs759202641
|
|
|
NM_004370.6(COL12A1):c.6683G>A (p.Arg2228Gln)
|
rs1253362145
|
|
|
NM_004370.6(COL12A1):c.6692C>T (p.Thr2231Ile)
|
rs1257364285
|
|
|
NM_004370.6(COL12A1):c.6695C>T (p.Ser2232Phe)
|
rs1765905733
|
|
|
NM_004370.6(COL12A1):c.6711A>C (p.Leu2237=)
|
rs2149374132
|
|
|
NM_004370.6(COL12A1):c.6720A>T (p.Ala2240=)
|
|
|
|
NM_004370.6(COL12A1):c.6724+11A>G
|
rs1398653047
|
|
|
NM_004370.6(COL12A1):c.6724+1G>C
|
|
|
|
NM_004370.6(COL12A1):c.6724+6T>C
|
|
|
|
NM_004370.6(COL12A1):c.6725-14G>A
|
|
|
|
NM_004370.6(COL12A1):c.6725-16T>C
|
|
|
|
NM_004370.6(COL12A1):c.6725-18C>A
|
|
|
|
NM_004370.6(COL12A1):c.6725-6_6725-4del
|
rs2149373848
|
|
|
NM_004370.6(COL12A1):c.6726A>T (p.Gly2242=)
|
|
|
|
NM_004370.6(COL12A1):c.6728C>A (p.Thr2243Lys)
|
|
|
|
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile)
|
rs746250737
|
|
|
NM_004370.6(COL12A1):c.6729A>C (p.Thr2243=)
|
rs1765889227
|
|
|
NM_004370.6(COL12A1):c.6733G>A (p.Gly2245Arg)
|
rs2149373796
|
|
|
NM_004370.6(COL12A1):c.6737_6812del (p.Gln2246fs)
|
rs2149373593
|
|
|
NM_004370.6(COL12A1):c.673T>G (p.Tyr225Asp)
|
|
|
|
NM_004370.6(COL12A1):c.6749T>G (p.Val2250Gly)
|
|
|
|
NM_004370.6(COL12A1):c.6751C>T (p.Arg2251Cys)
|
rs754290184
|
|
|
NM_004370.6(COL12A1):c.6756A>G (p.Gly2252=)
|
rs2149373749
|
|
|
NM_004370.6(COL12A1):c.6759A>T (p.Ser2253=)
|
rs1765886657
|
|
|
NM_004370.6(COL12A1):c.6764C>T (p.Thr2255Ile)
|
|
|
|
NM_004370.6(COL12A1):c.6769C>T (p.His2257Tyr)
|
rs2149373719
|
|
|
NM_004370.6(COL12A1):c.6771C>G (p.His2257Gln)
|
|
|
|
NM_004370.6(COL12A1):c.6790C>T (p.Pro2264Ser)
|
|
|
|
NM_004370.6(COL12A1):c.6794A>G (p.Asp2265Gly)
|
|
|
|
NM_004370.6(COL12A1):c.6808G>C (p.Val2270Leu)
|
rs1765882595
|
|
|
NM_004370.6(COL12A1):c.6809T>C (p.Val2270Ala)
|
|
|
|
NM_004370.6(COL12A1):c.6815T>C (p.Val2272Ala)
|
|
|
|
NM_004370.6(COL12A1):c.6819del (p.Phe2273fs)
|
rs1765881602
|
|
|
NM_004370.6(COL12A1):c.6839A>G (p.Glu2280Gly)
|
|
|
|
NM_004370.6(COL12A1):c.6862G>A (p.Glu2288Lys)
|
|
|
|
NM_004370.6(COL12A1):c.6866A>G (p.His2289Arg)
|
|
|
|
NM_004370.6(COL12A1):c.6867T>G (p.His2289Gln)
|
|
|
|
NM_004370.6(COL12A1):c.6869C>A (p.Thr2290Asn)
|
|
|
|
NM_004370.6(COL12A1):c.6871+14G>A
|
|
|
|
NM_004370.6(COL12A1):c.6871+20G>T
|
|
|
|
NM_004370.6(COL12A1):c.6871A>C (p.Thr2291Pro)
|
|
|
|
NM_004370.6(COL12A1):c.6872-14T>C
|
|
|
|
NM_004370.6(COL12A1):c.6872-15A>G
|
|
|
|
NM_004370.6(COL12A1):c.6872-2A>G
|
rs2149372690
|
|
|
NM_004370.6(COL12A1):c.6889G>A (p.Ala2297Thr)
|
rs1562162215
|
|
|
NM_004370.6(COL12A1):c.6898G>A (p.Glu2300Lys)
|
rs2149372645
|
|
|
NM_004370.6(COL12A1):c.6900G>A (p.Glu2300=)
|
rs1194108575
|
|
|
NM_004370.6(COL12A1):c.6908C>G (p.Thr2303Arg)
|
rs780038146
|
|
|
NM_004370.6(COL12A1):c.6910C>A (p.Pro2304Thr)
|
rs747966606
|
|
|
NM_004370.6(COL12A1):c.6911C>T (p.Pro2304Leu)
|
|
|
|
NM_004370.6(COL12A1):c.6912TCC[1] (p.Pro2308del)
|
rs745810321
|
|
|
NM_004370.6(COL12A1):c.6914C>T (p.Pro2305Leu)
|
rs1765844509
|
|
|
NM_004370.6(COL12A1):c.6916C>T (p.Pro2306Ser)
|
rs1554171436
|
|
|
NM_004370.6(COL12A1):c.6917C>G (p.Pro2306Arg)
|
rs1302398240
|
|
|
NM_004370.6(COL12A1):c.6946+5G>A
|
rs1582086058
|
|
|
NM_004370.6(COL12A1):c.6946+7_6946+8delinsGA
|
rs2149372484
|
|
|
NM_004370.6(COL12A1):c.6946G>C (p.Val2316Leu)
|
rs1765839616
|
|
|
NM_004370.6(COL12A1):c.6947-12C>T
|
|
|
|
NM_004370.6(COL12A1):c.6947-5T>C
|
|
|
|
NM_004370.6(COL12A1):c.6947-6T>G
|
rs200538799
|
|
|
NM_004370.6(COL12A1):c.695C>G (p.Thr232Arg)
|
rs200443479
|
|
|
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu)
|
rs1765724096
|
|
|
NM_004370.6(COL12A1):c.6966A>G (p.Ala2322=)
|
rs1364212431
|
|
|
NM_004370.6(COL12A1):c.6983C>T (p.Thr2328Ile)
|
|
|
|
NM_004370.6(COL12A1):c.6985G>C (p.Asp2329His)
|
rs1765722908
|
|
|
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)
|
rs796052093
|
|
|
NM_004370.6(COL12A1):c.7006G>T (p.Asp2336Tyr)
|
rs1400495680
|
|
|
NM_004370.6(COL12A1):c.7011T>C (p.Asp2337=)
|
rs2149369622
|
|
|
NM_004370.6(COL12A1):c.7015T>C (p.Phe2339Leu)
|
|
|
|
NM_004370.6(COL12A1):c.7017T>C (p.Phe2339=)
|
|
|
|
NM_004370.6(COL12A1):c.7018A>G (p.Asn2340Asp)
|
|
|
|
NM_004370.6(COL12A1):c.7021A>G (p.Lys2341Glu)
|
|
|
|
NM_004370.6(COL12A1):c.7025T>C (p.Val2342Ala)
|
rs778958906
|
|
|
NM_004370.6(COL12A1):c.7027G>A (p.Val2343Ile)
|
|
|
|
NM_004370.6(COL12A1):c.702T>C (p.Ser234=)
|
|
|
|
NM_004370.6(COL12A1):c.7038C>T (p.Ile2346=)
|
rs2149369561
|
|
|
NM_004370.6(COL12A1):c.703G>T (p.Ala235Ser)
|
|
|
|
NM_004370.6(COL12A1):c.7045A>G (p.Thr2349Ala)
|
rs1765717648
|
|
|
NM_004370.6(COL12A1):c.7046C>T (p.Thr2349Ile)
|
rs1231345150
|
|
|
NM_004370.6(COL12A1):c.704C>T (p.Ala235Val)
|
|
|
|
NM_004370.6(COL12A1):c.7065A>C (p.Glu2355Asp)
|
rs1055080261
|
|
|
NM_004370.6(COL12A1):c.7065A>G (p.Glu2355=)
|
rs1055080261
|
|
|
NM_004370.6(COL12A1):c.7085del (p.Gln2362fs)
|
rs2149369481
|
|
|
NM_004370.6(COL12A1):c.7086+10del
|
|
|
|
NM_004370.6(COL12A1):c.7086+15G>A
|
|
|
|
NM_004370.6(COL12A1):c.7086+20T>A
|
|
|
|
NM_004370.6(COL12A1):c.7086+4A>G
|
|
|
|
NM_004370.6(COL12A1):c.7087-11T>A
|
rs2149366872
|
|
|
NM_004370.6(COL12A1):c.7087-16del
|
|
|
|
NM_004370.6(COL12A1):c.7087-20C>T
|
|
|
|
NM_004370.6(COL12A1):c.7087-3C>T
|
rs1769248501
|
|
|
NM_004370.6(COL12A1):c.7087-5T>G
|
rs1410734553
|
|
|
NM_004370.6(COL12A1):c.7087-6C>T
|
|
|
|
NM_004370.6(COL12A1):c.7087-8T>C
|
|
|
|
NM_004370.6(COL12A1):c.7087G>A (p.Val2363Ile)
|
|
|
|
NM_004370.6(COL12A1):c.7137C>T (p.Asn2379=)
|
rs2149366781
|
|
|
NM_004370.6(COL12A1):c.7138A>G (p.Thr2380Ala)
|
|
|
|
NM_004370.6(COL12A1):c.7139C>T (p.Thr2380Met)
|
|
|
|
NM_004370.6(COL12A1):c.713G>C (p.Arg238Thr)
|
rs1554188387
|
|
|
NM_004370.6(COL12A1):c.7143C>T (p.Tyr2381=)
|
rs2149366759
|
|
|
NM_004370.6(COL12A1):c.7146T>C (p.Asn2382=)
|
rs2149366746
|
|
|
NM_004370.6(COL12A1):c.7161C>A (p.Ala2387=)
|
rs2149366727
|
|
|
NM_004370.6(COL12A1):c.7175A>G (p.Gln2392Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7184G>A (p.Arg2395Lys)
|
|
|
|
NM_004370.6(COL12A1):c.7189A>C (p.Arg2397=)
|
|
|
|
NM_004370.6(COL12A1):c.7191A>T (p.Arg2397Ser)
|
rs2149366659
|
|
|
NM_004370.6(COL12A1):c.7200C>T (p.Asn2400=)
|
|
|
|
NM_004370.6(COL12A1):c.7201A>C (p.Thr2401Pro)
|
rs1769243797
|
|
|
NM_004370.6(COL12A1):c.7202C>G (p.Thr2401Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7210+19C>G
|
rs747884107
|
|
|
NM_004370.6(COL12A1):c.7210+3dup
|
|
|
|
NM_004370.6(COL12A1):c.7210+7G>A
|
|
|
|
NM_004370.6(COL12A1):c.7211-11A>G
|
|
|
|
NM_004370.6(COL12A1):c.7211-16A>G
|
|
|
|
NM_004370.6(COL12A1):c.7211-19T>C
|
|
|
|
NM_004370.6(COL12A1):c.7215G>C (p.Lys2405Asn)
|
rs568748031
|
|
|
NM_004370.6(COL12A1):c.7216G>A (p.Ala2406Thr)
|
|
|
|
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg)
|
rs141593495
|
|
|
NM_004370.6(COL12A1):c.7230C>T (p.Ile2410=)
|
rs2149366384
|
|
|
NM_004370.6(COL12A1):c.7232A>G (p.Lys2411Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7255A>G (p.Ser2419Gly)
|
|
|
|
NM_004370.6(COL12A1):c.7258G>A (p.Gly2420Ser)
|
rs1290886066
|
|
|
NM_004370.6(COL12A1):c.7264A>G (p.Arg2422Gly)
|
rs1769229174
|
|
|
NM_004370.6(COL12A1):c.7270A>C (p.Asn2424His)
|
rs1769228699
|
|
|
NM_004370.6(COL12A1):c.7272T>C (p.Asn2424=)
|
|
|
|
NM_004370.6(COL12A1):c.7282G>T (p.Val2428Leu)
|
|
|
|
NM_004370.6(COL12A1):c.7292T>C (p.Val2431Ala)
|
rs1769227311
|
|
|
NM_004370.6(COL12A1):c.7298C>T (p.Thr2433Met)
|
rs1769226903
|
|
|
NM_004370.6(COL12A1):c.7299G>A (p.Thr2433=)
|
rs35551395
|
|
|
NM_004370.6(COL12A1):c.7299G>T (p.Thr2433=)
|
rs35551395
|
|
|
NM_004370.6(COL12A1):c.73+16C>T
|
|
|
|
NM_004370.6(COL12A1):c.73+19C>T
|
|
|
|
NM_004370.6(COL12A1):c.73+1G>A
|
|
|
|
NM_004370.6(COL12A1):c.73+8G>A
|
|
|
|
NM_004370.6(COL12A1):c.7303G>A (p.Gly2435Ser)
|
rs2149366214
|
|
|
NM_004370.6(COL12A1):c.7317T>C (p.Asp2439=)
|
rs2149366203
|
|
|
NM_004370.6(COL12A1):c.7326G>A (p.Lys2442=)
|
|
|
|
NM_004370.6(COL12A1):c.7333G>A (p.Ala2445Thr)
|
|
|
|
NM_004370.6(COL12A1):c.7344C>T (p.Ile2448=)
|
|
|
|
NM_004370.6(COL12A1):c.7348C>T (p.Gln2450Ter)
|
|
|
|
NM_004370.6(COL12A1):c.7355-11C>T
|
|
|
|
NM_004370.6(COL12A1):c.7355-17T>C
|
|
|
|
NM_004370.6(COL12A1):c.7355-18A>C
|
|
|
|
NM_004370.6(COL12A1):c.7355-19T>G
|
|
|
|
NM_004370.6(COL12A1):c.7355-4G>T
|
rs2149363736
|
|
|
NM_004370.6(COL12A1):c.7355G>T (p.Gly2452Val)
|
rs1224729276
|
|
|
NM_004370.6(COL12A1):c.7359C>T (p.Phe2453=)
|
|
|
|
NM_004370.6(COL12A1):c.7360A>C (p.Ser2454Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7365C>T (p.Val2455=)
|
|
|
|
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile)
|
rs2149363695
|
|
|
NM_004370.6(COL12A1):c.7373T>C (p.Val2458Ala)
|
|
|
|
NM_004370.6(COL12A1):c.7377del (p.Val2460fs)
|
|
|
|
NM_004370.6(COL12A1):c.7389C>T (p.Val2463=)
|
|
|
|
NM_004370.6(COL12A1):c.7395C>T (p.Tyr2465=)
|
|
|
|
NM_004370.6(COL12A1):c.7397A>G (p.Asn2466Ser)
|
|
|
|
NM_004370.6(COL12A1):c.739A>C (p.Ile247Leu)
|
|
|
|
NM_004370.6(COL12A1):c.74-15CT[3]
|
rs756206757
|
|
|
NM_004370.6(COL12A1):c.74-18A>G
|
rs2149482912
|
|
|
NM_004370.6(COL12A1):c.74-2A>T
|
|
|
|
NM_004370.6(COL12A1):c.7401G>A (p.Glu2467=)
|
|
|
|
NM_004370.6(COL12A1):c.7406C>T (p.Ala2469Val)
|
|
|
|
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val)
|
rs1769138600
|
|
|
NM_004370.6(COL12A1):c.7445T>C (p.Ile2482Thr)
|
|
|
|
NM_004370.6(COL12A1):c.7446T>G (p.Ile2482Met)
|
|
|
|
NM_004370.6(COL12A1):c.7454A>T (p.Asp2485Val)
|
|
|
|
NM_004370.6(COL12A1):c.7460A>C (p.Glu2487Ala)
|
rs1769137471
|
|
|
NM_004370.6(COL12A1):c.7462T>A (p.Ser2488Thr)
|
|
|
|
NM_004370.6(COL12A1):c.7482C>G (p.Asp2494Glu)
|
|
|
|
NM_004370.6(COL12A1):c.7488T>G (p.Leu2496=)
|
rs2149363505
|
|
|
NM_004370.6(COL12A1):c.7489A>G (p.Ile2497Val)
|
|
|
|
NM_004370.6(COL12A1):c.7493C>A (p.Thr2498Lys)
|
|
|
|
NM_004370.6(COL12A1):c.7497T>G (p.Phe2499Leu)
|
rs1470111741
|
|
|
NM_004370.6(COL12A1):c.7519+17A>G
|
rs2149363447
|
|
|
NM_004370.6(COL12A1):c.7519+18T>A
|
|
|
|
NM_004370.6(COL12A1):c.7519+6T>C
|
rs2149363457
|
|
|
NM_004370.6(COL12A1):c.7520-11G>A
|
|
|
|
NM_004370.6(COL12A1):c.7520-4G>A
|
|
|
|
NM_004370.6(COL12A1):c.7525C>G (p.Pro2509Ala)
|
|
|
|
NM_004370.6(COL12A1):c.7546T>C (p.Tyr2516His)
|
|
|
|
NM_004370.6(COL12A1):c.7550C>G (p.Thr2517Ser)
|
rs1468041100
|
|
|
NM_004370.6(COL12A1):c.7558+17T>C
|
rs1323169221
|
|
|
NM_004370.6(COL12A1):c.7558+5G>A
|
|
|
|
NM_004370.6(COL12A1):c.7559-6G>A
|
|
|
|
NM_004370.6(COL12A1):c.7560T>C (p.Gly2520=)
|
rs2149361484
|
|
|
NM_004370.6(COL12A1):c.7576_7577delinsTT (p.Ala2526Leu)
|
rs1769053374
|
|
|
NM_004370.6(COL12A1):c.7583A>G (p.Asn2528Ser)
|
rs1168175119
|
|
|
NM_004370.6(COL12A1):c.7584C>G (p.Asn2528Lys)
|
rs2149361441
|
|
|
NM_004370.6(COL12A1):c.7594A>G (p.Lys2532Glu)
|
|
|
|
NM_004370.6(COL12A1):c.7596G>C (p.Lys2532Asn)
|
|
|
|
NM_004370.6(COL12A1):c.7601T>C (p.Phe2534Ser)
|
rs1769052516
|
|
|
NM_004370.6(COL12A1):c.7603G>T (p.Ala2535Ser)
|
|
|
|
NM_004370.6(COL12A1):c.7608T>G (p.Ser2536=)
|
rs778124838
|
|
|
NM_004370.6(COL12A1):c.7613A>C (p.Gln2538Pro)
|
|
|
|
NM_004370.6(COL12A1):c.7615G>A (p.Gly2539Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7617A>G (p.Gly2539=)
|
rs2149361397
|
|
|
NM_004370.6(COL12A1):c.7619T>C (p.Val2540Ala)
|
rs942074618
|
|
|
NM_004370.6(COL12A1):c.7620A>T (p.Val2540=)
|
|
|
|
NM_004370.6(COL12A1):c.7633G>T (p.Gly2545Trp)
|
|
|
|
NM_004370.6(COL12A1):c.7637del (p.Ser2546fs)
|
|
|
|
NM_004370.6(COL12A1):c.765T>C (p.Asp255=)
|
rs2149475018
|
|
|
NM_004370.6(COL12A1):c.7660A>G (p.Arg2554Gly)
|
|
|
|
NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp)
|
rs1302611725
|
|
|
NM_004370.6(COL12A1):c.7674T>C (p.Asn2558=)
|
|
|
|
NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)
|
|
|
|
NM_004370.6(COL12A1):c.7697+18_7697+20del
|
|
|
|
NM_004370.6(COL12A1):c.7697+19G>A
|
|
|
|
NM_004370.6(COL12A1):c.7698-10T>C
|
|
|
|
NM_004370.6(COL12A1):c.7698-14G>T
|
|
|
|
NM_004370.6(COL12A1):c.7698-18_7698-15del
|
|
|
|
NM_004370.6(COL12A1):c.7698-19_7698-15del
|
rs141102808
|
|
|
NM_004370.6(COL12A1):c.7698-6C>T
|
rs1582070030
|
|
|
NM_004370.6(COL12A1):c.7701C>T (p.Asp2567=)
|
rs772064054
|
|
|
NM_004370.6(COL12A1):c.7702C>T (p.Leu2568=)
|
rs745685013
|
|
|
NM_004370.6(COL12A1):c.7711A>C (p.Asn2571His)
|
rs1364305836
|
|
|
NM_004370.6(COL12A1):c.7712A>G (p.Asn2571Ser)
|
|
|
|
NM_004370.6(COL12A1):c.7714G>A (p.Gly2572Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7718T>A (p.Leu2573His)
|
|
|
|
NM_004370.6(COL12A1):c.7724C>A (p.Pro2575His)
|
rs1768945805
|
|
|
NM_004370.6(COL12A1):c.772G>A (p.Glu258Lys)
|
rs1312651383
|
|
|
NM_004370.6(COL12A1):c.772G>C (p.Glu258Gln)
|
|
|
|
NM_004370.6(COL12A1):c.7733C>T (p.Thr2578Met)
|
|
|
|
NM_004370.6(COL12A1):c.7738A>C (p.Ile2580Leu)
|
|
|
|
NM_004370.6(COL12A1):c.7740A>G (p.Ile2580Met)
|
|
|
|
NM_004370.6(COL12A1):c.7743A>G (p.Leu2581=)
|
|
|
|
NM_004370.6(COL12A1):c.7756C>G (p.Leu2586Val)
|
rs375113182
|
|
|
NM_004370.6(COL12A1):c.7761A>G (p.Pro2587=)
|
rs1768943747
|
|
|
NM_004370.6(COL12A1):c.7763A>C (p.Glu2588Ala)
|
rs1768943469
|
|
|
NM_004370.6(COL12A1):c.7783G>C (p.Ala2595Pro)
|
|
|
|
NM_004370.6(COL12A1):c.7817C>G (p.Pro2606Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7817C>T (p.Pro2606Leu)
|
|
|
|
NM_004370.6(COL12A1):c.7819C>G (p.Gln2607Glu)
|
rs1428757896
|
|
|
NM_004370.6(COL12A1):c.7840+1G>A
|
rs875989819
|
|
|
NM_004370.6(COL12A1):c.7840+9T>G
|
rs774128333
|
|
|
NM_004370.6(COL12A1):c.7841-18C>T
|
|
|
|
NM_004370.6(COL12A1):c.7841-3C>T
|
|
|
|
NM_004370.6(COL12A1):c.7841-4A>G
|
|
|
|
NM_004370.6(COL12A1):c.7841C>T (p.Pro2614Leu)
|
rs1194345062
|
|
|
NM_004370.6(COL12A1):c.784A>G (p.Arg262Gly)
|
|
|
|
NM_004370.6(COL12A1):c.7854G>A (p.Thr2618=)
|
rs190984968
|
|
|
NM_004370.6(COL12A1):c.785G>A (p.Arg262Lys)
|
rs1554188366
|
|
|
NM_004370.6(COL12A1):c.7865T>C (p.Phe2622Ser)
|
|
|
|
NM_004370.6(COL12A1):c.7867A>T (p.Asn2623Tyr)
|
|
|
|
NM_004370.6(COL12A1):c.7869C>T (p.Asn2623=)
|
rs201337277
|
|
|
NM_004370.6(COL12A1):c.7883G>C (p.Gly2628Ala)
|
rs1582069073
|
|
|
NM_004370.6(COL12A1):c.7888G>A (p.Val2630Met)
|
|
|
|
NM_004370.6(COL12A1):c.7893A>G (p.Gln2631=)
|
rs1015843320
|
|
|
NM_004370.6(COL12A1):c.789G>A (p.Glu263=)
|
rs2149474985
|
|
|
NM_004370.6(COL12A1):c.78C>A (p.Asp26Glu)
|
rs2149482865
|
|
|
NM_004370.6(COL12A1):c.7905T>A (p.Phe2635Leu)
|
|
|
|
NM_004370.6(COL12A1):c.7913AAG[1] (p.Glu2639del)
|
rs1238774939
|
|
|
NM_004370.6(COL12A1):c.7925C>G (p.Thr2642Arg)
|
|
|
|
NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs)
|
rs1582068925
|
|
|
NM_004370.6(COL12A1):c.7944T>C (p.Phe2648=)
|
|
|
|
NM_004370.6(COL12A1):c.7950+10_7950+11del
|
rs762026995
|
|
|
NM_004370.6(COL12A1):c.7950+5A>T
|
rs771300269
|
|
|
NM_004370.6(COL12A1):c.7951-14_7951-13del
|
rs745783404
|
|
|
NM_004370.6(COL12A1):c.7951G>A (p.Val2651Ile)
|
|
|
|
NM_004370.6(COL12A1):c.7951G>T (p.Val2651Phe)
|
rs1347122880
|
|
|
NM_004370.6(COL12A1):c.7954C>T (p.His2652Tyr)
|
|
|
|
NM_004370.6(COL12A1):c.7970C>T (p.Ser2657Leu)
|
|
|
|
NM_004370.6(COL12A1):c.7980T>C (p.Val2660=)
|
|
|
|
NM_004370.6(COL12A1):c.7981A>C (p.Lys2661Gln)
|
rs1768709126
|
|
|
NM_004370.6(COL12A1):c.7999T>C (p.Tyr2667His)
|
rs1324430356
|
|
|
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys)
|
rs1770598850
|
|
|
NM_004370.6(COL12A1):c.8008A>G (p.Ile2670Val)
|
|
|
|
NM_004370.6(COL12A1):c.8019C>T (p.Asp2673=)
|
|
|
|
NM_004370.6(COL12A1):c.8022C>G (p.Ile2674Met)
|
rs536679905
|
|
|
NM_004370.6(COL12A1):c.8025G>A (p.Lys2675=)
|
rs2149353076
|
|
|
NM_004370.6(COL12A1):c.8033G>A (p.Gly2678Glu)
|
|
|
|
NM_004370.6(COL12A1):c.8040A>G (p.Ile2680Met)
|
rs1167733175
|
|
|
NM_004370.6(COL12A1):c.8051G>A (p.Gly2684Asp)
|
|
|
|
NM_004370.6(COL12A1):c.8053T>C (p.Tyr2685His)
|
rs2149353031
|
|
|
NM_004370.6(COL12A1):c.806T>C (p.Val269Ala)
|
|
|
|
NM_004370.6(COL12A1):c.8082G>C (p.Gly2694=)
|
rs2149352990
|
|
|
NM_004370.6(COL12A1):c.8098G>A (p.Ala2700Thr)
|
|
|
|
NM_004370.6(COL12A1):c.80C>A (p.Pro27Gln)
|
|
|
|
NM_004370.6(COL12A1):c.8100+1G>C
|
|
|
|
NM_004370.6(COL12A1):c.8100+2T>C
|
rs1768702301
|
|
|
NM_004370.6(COL12A1):c.8100+2T>G
|
|
|
|
NM_004370.6(COL12A1):c.8100+3_8100+6del
|
rs2149352927
|
|
|
NM_004370.6(COL12A1):c.8100+4A>T
|
rs2149352934
|
|
|
NM_004370.6(COL12A1):c.8100+5G>T
|
|
|
|
NM_004370.6(COL12A1):c.8101-1G>T
|
rs2149349312
|
|
|
NM_004370.6(COL12A1):c.8108del (p.Ile2703fs)
|
|
|
|
NM_004370.6(COL12A1):c.8119G>T (p.Asp2707Tyr)
|
rs1768551206
|
|
|
NM_004370.6(COL12A1):c.8122A>G (p.Ile2708Val)
|
|
|
|
NM_004370.6(COL12A1):c.8133T>C (p.Ser2711=)
|
|
|
|
NM_004370.6(COL12A1):c.8136A>C (p.Pro2712=)
|
|
|
|
NM_004370.6(COL12A1):c.8136A>G (p.Pro2712=)
|
|
|
|
NM_004370.6(COL12A1):c.8169T>G (p.Ile2723Met)
|
|
|
|
NM_004370.6(COL12A1):c.8178+16T>C
|
|
|
|
NM_004370.6(COL12A1):c.8178+6T>C
|
|
|
|
NM_004370.6(COL12A1):c.8178G>A (p.Arg2726=)
|
rs1768547356
|
|
|
NM_004370.6(COL12A1):c.8179-12T>C
|
|
|
|
NM_004370.6(COL12A1):c.8179-15T>C
|
|
|
|
NM_004370.6(COL12A1):c.8179-16C>A
|
|
|
|
NM_004370.6(COL12A1):c.8179-17T>G
|
|
|
|
NM_004370.6(COL12A1):c.8179-20T>C
|
|
|
|
NM_004370.6(COL12A1):c.8179-2A>G
|
rs1768495540
|
|
|
NM_004370.6(COL12A1):c.817T>A (p.Ser273Thr)
|
|
|
|
NM_004370.6(COL12A1):c.8189G>A (p.Gly2730Glu)
|
|
|
|
NM_004370.6(COL12A1):c.8198C>G (p.Pro2733Arg)
|
rs1768494060
|
|
|
NM_004370.6(COL12A1):c.8201C>T (p.Ala2734Val)
|
|
|
|
NM_004370.6(COL12A1):c.8211T>C (p.Asn2737=)
|
|
|
|
NM_004370.6(COL12A1):c.823+15G>C
|
|
|
|
NM_004370.6(COL12A1):c.823+15G>T
|
|
|
|
NM_004370.6(COL12A1):c.823+17_823+18insGTAATGATAATGTAA
|
|
|
|
NM_004370.6(COL12A1):c.823+19A>G
|
|
|
|
NM_004370.6(COL12A1):c.823+4G>A
|
|
|
|
NM_004370.6(COL12A1):c.823+8A>C
|
rs1769795222
|
|
|
NM_004370.6(COL12A1):c.8230G>C (p.Asp2744His)
|
|
|
|
NM_004370.6(COL12A1):c.8232C>T (p.Asp2744=)
|
rs1582055336
|
|
|
NM_004370.6(COL12A1):c.8236G>A (p.Val2746Ile)
|
|
|
|
NM_004370.6(COL12A1):c.8239G>A (p.Gly2747Arg)
|
|
|
|
NM_004370.6(COL12A1):c.824-10dup
|
|
|
|
NM_004370.6(COL12A1):c.824-20C>G
|
|
|
|
NM_004370.6(COL12A1):c.824-20C>T
|
rs369499035
|
|
|
NM_004370.6(COL12A1):c.8244T>C (p.Pro2748=)
|
|
|
|
NM_004370.6(COL12A1):c.8249G>C (p.Gly2750Ala)
|
rs1582055239
|
|
|
NM_004370.6(COL12A1):c.8251C>A (p.Pro2751Thr)
|
|
|
|
NM_004370.6(COL12A1):c.8254C>A (p.Pro2752Thr)
|
rs1768489455
|
|
|
NM_004370.6(COL12A1):c.8263G>T (p.Ala2755Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8265+11T>C
|
rs775543292
|
|
|
NM_004370.6(COL12A1):c.8265+1G>A
|
rs2149347624
|
|
|
NM_004370.6(COL12A1):c.8265+20T>A
|
|
|
|
NM_004370.6(COL12A1):c.8266-14T>A
|
|
|
|
NM_004370.6(COL12A1):c.8266-6T>G
|
|
|
|
NM_004370.6(COL12A1):c.8266-8T>A
|
|
|
|
NM_004370.6(COL12A1):c.8266-8T>C
|
|
|
|
NM_004370.6(COL12A1):c.8276G>A (p.Gly2759Asp)
|
rs1554168599
|
|
|
NM_004370.6(COL12A1):c.8278G>A (p.Ala2760Thr)
|
rs1768418483
|
|
|
NM_004370.6(COL12A1):c.8285G>T (p.Gly2762Val)
|
|
|
|
NM_004370.6(COL12A1):c.82C>A (p.Pro28Thr)
|
rs1473515166
|
|
|
NM_004370.6(COL12A1):c.8305A>G (p.Ile2769Val)
|
rs1476228934
|
|
|
NM_004370.6(COL12A1):c.8317A>G (p.Ile2773Val)
|
rs1254845133
|
|
|
NM_004370.6(COL12A1):c.8319+13del
|
|
|
|
NM_004370.6(COL12A1):c.8319+16_8319+17del
|
|
|
|
NM_004370.6(COL12A1):c.8319+17G>A
|
|
|
|
NM_004370.6(COL12A1):c.8319+1G>C
|
rs1768416586
|
|
|
NM_004370.6(COL12A1):c.8320-12del
|
rs1436326715
|
|
|
NM_004370.6(COL12A1):c.8320-15_8379delinsCA
|
|
|
|
NM_004370.6(COL12A1):c.8320-16C>G
|
|
|
|
NM_004370.6(COL12A1):c.8320-9G>A
|
|
|
|
NM_004370.6(COL12A1):c.8320G>T (p.Gly2774Trp)
|
rs1768363255
|
|
|
NM_004370.6(COL12A1):c.8321G>A (p.Gly2774Glu)
|
rs1768363108
|
|
|
NM_004370.6(COL12A1):c.8324C>T (p.Pro2775Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8335C>T (p.Arg2779Cys)
|
rs1768362148
|
|
|
NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)
|
|
|
|
NM_004370.6(COL12A1):c.8342A>C (p.Asp2781Ala)
|
|
|
|
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu)
|
rs997353607
|
|
|
NM_004370.6(COL12A1):c.8353C>T (p.Pro2785Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8354C>T (p.Pro2785Leu)
|
rs1160043441
|
|
|
NM_004370.6(COL12A1):c.8360C>T (p.Pro2787Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8360_8365delinsTCCAGGCCTCCA (p.Pro2787_Gly2789delinsLeuGlnAlaSerSer)
|
|
|
|
NM_004370.6(COL12A1):c.8361_8378del (p.2785_2790PGPQGP[1])
|
rs1562116272
|
|
|
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg)
|
rs1768359621
|
|
|
NM_004370.6(COL12A1):c.8365_8366insCCTCCA (p.Gly2789delinsAlaSerSer)
|
|
|
|
NM_004370.6(COL12A1):c.8366del (p.Gly2789fs)
|
|
|
|
NM_004370.6(COL12A1):c.8367T>G (p.Gly2789=)
|
|
|
|
NM_004370.6(COL12A1):c.8368C>T (p.Pro2790Ser)
|
rs1582050849
|
|
|
NM_004370.6(COL12A1):c.8375G>A (p.Gly2792Asp)
|
rs1768358751
|
|
|
NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter)
|
rs1768358162
|
|
|
NM_004370.6(COL12A1):c.8387C>T (p.Pro2796Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg)
|
rs1582050802
|
|
|
NM_004370.6(COL12A1):c.8393G>T (p.Gly2798Val)
|
|
|
|
NM_004370.6(COL12A1):c.8393_8415+5del
|
rs2149344192
|
|
|
NM_004370.6(COL12A1):c.839A>G (p.Asp280Gly)
|
|
|
|
NM_004370.6(COL12A1):c.8404C>A (p.Pro2802Thr)
|
|
|
|
NM_004370.6(COL12A1):c.8408G>C (p.Gly2803Ala)
|
|
|
|
NM_004370.6(COL12A1):c.8412G>C (p.Glu2804Asp)
|
rs1768356411
|
|
|
NM_004370.6(COL12A1):c.8415+12G>A
|
rs2149344185
|
|
|
NM_004370.6(COL12A1):c.8415+13C>T
|
rs2149344182
|
|
|
NM_004370.6(COL12A1):c.8415+17T>C
|
rs2149344172
|
|
|
NM_004370.6(COL12A1):c.8415+18C>T
|
|
|
|
NM_004370.6(COL12A1):c.8415+1G>C
|
rs1768356177
|
|
|
NM_004370.6(COL12A1):c.8415+2dup
|
|
|
|
NM_004370.6(COL12A1):c.8416-17C>T
|
|
|
|
NM_004370.6(COL12A1):c.8416-8C>A
|
rs775559307
|
|
|
NM_004370.6(COL12A1):c.8416G>T (p.Gly2806Cys)
|
rs2149343509
|
|
|
NM_004370.6(COL12A1):c.8419C>T (p.Arg2807Cys)
|
|
|
|
NM_004370.6(COL12A1):c.8434G>A (p.Gly2812Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8463C>T (p.Gly2821=)
|
|
|
|
NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter)
|
rs984314526
|
|
|
NM_004370.6(COL12A1):c.8468C>T (p.Thr2823Ile)
|
|
|
|
NM_004370.6(COL12A1):c.8469+20G>T
|
rs1768324536
|
|
|
NM_004370.6(COL12A1):c.8469+9G>T
|
|
|
|
NM_004370.6(COL12A1):c.8470-12C>T
|
|
|
|
NM_004370.6(COL12A1):c.8470-4G>T
|
|
|
|
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn)
|
rs1280191331
|
|
|
NM_004370.6(COL12A1):c.847G>T (p.Glu283Ter)
|
|
|
|
NM_004370.6(COL12A1):c.8486C>A (p.Pro2829His)
|
|
|
|
NM_004370.6(COL12A1):c.848A>T (p.Glu283Val)
|
rs1554188241
|
|
|
NM_004370.6(COL12A1):c.8491C>T (p.Pro2831Ser)
|
rs2149343047
|
|
|
NM_004370.6(COL12A1):c.8493A>G (p.Pro2831=)
|
|
|
|
NM_004370.6(COL12A1):c.8504T>G (p.Met2835Arg)
|
|
|
|
NM_004370.6(COL12A1):c.8510C>T (p.Pro2837Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8523+17del
|
|
|
|
NM_004370.6(COL12A1):c.8524-10T>G
|
|
|
|
NM_004370.6(COL12A1):c.8524-12dup
|
rs1261200705
|
|
|
NM_004370.6(COL12A1):c.8524-15dup
|
rs2149337428
|
|
|
NM_004370.6(COL12A1):c.8524-3T>G
|
|
|
|
NM_004370.6(COL12A1):c.8524-6C>A
|
rs777596531
|
|
|
NM_004370.6(COL12A1):c.8530A>C (p.Thr2844Pro)
|
|
|
|
NM_004370.6(COL12A1):c.8530A>T (p.Thr2844Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8532T>A (p.Thr2844=)
|
|
|
|
NM_004370.6(COL12A1):c.8541C>T (p.Asp2847=)
|
|
|
|
NM_004370.6(COL12A1):c.8567C>G (p.Pro2856Arg)
|
rs574147225
|
|
|
NM_004370.6(COL12A1):c.8571del (p.Pro2858fs)
|
rs2149337320
|
|
|
NM_004370.6(COL12A1):c.8573C>T (p.Pro2858Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8574G>A (p.Pro2858=)
|
|
|
|
NM_004370.6(COL12A1):c.8577+1del
|
|
|
|
NM_004370.6(COL12A1):c.8577+20C>T
|
|
|
|
NM_004370.6(COL12A1):c.8577+4A>G
|
rs1562105188
|
|
|
NM_004370.6(COL12A1):c.8577G>A (p.Pro2859=)
|
rs1768087709
|
|
|
NM_004370.6(COL12A1):c.8578-19C>G
|
|
|
|
NM_004370.6(COL12A1):c.8578-6T>G
|
|
|
|
NM_004370.6(COL12A1):c.8578-8T>C
|
rs2149333586
|
|
|
NM_004370.6(COL12A1):c.8583C>T (p.Ser2861=)
|
rs189999387
|
|
|
NM_004370.6(COL12A1):c.8601C>T (p.Val2867=)
|
|
|
|
NM_004370.6(COL12A1):c.8602A>G (p.Thr2868Ala)
|
rs2149333527
|
|
|
NM_004370.6(COL12A1):c.8605G>A (p.Gly2869Arg)
|
rs1554167424
|
|
|
NM_004370.6(COL12A1):c.8608C>G (p.Pro2870Ala)
|
|
|
|
NM_004370.6(COL12A1):c.8611A>C (p.Ser2871Arg)
|
|
|
|
NM_004370.6(COL12A1):c.8613T>C (p.Ser2871=)
|
|
|
|
NM_004370.6(COL12A1):c.8630C>A (p.Pro2877His)
|
|
|
|
NM_004370.6(COL12A1):c.863C>T (p.Ala288Val)
|
rs1385414325
|
|
|
NM_004370.6(COL12A1):c.8643C>T (p.Gly2881=)
|
rs1767942315
|
|
|
NM_004370.6(COL12A1):c.8649+10C>G
|
|
|
|
NM_004370.6(COL12A1):c.8649+13C>A
|
|
|
|
NM_004370.6(COL12A1):c.8649+13C>G
|
|
|
|
NM_004370.6(COL12A1):c.8649+16G>C
|
|
|
|
NM_004370.6(COL12A1):c.8649+6C>T
|
rs1037107431
|
|
|
NM_004370.6(COL12A1):c.8649A>G (p.Pro2883=)
|
rs900917198
|
|
|
NM_004370.6(COL12A1):c.8650-14T>A
|
|
|
|
NM_004370.6(COL12A1):c.8650-19T>C
|
|
|
|
NM_004370.6(COL12A1):c.8650-20A>C
|
rs1281657456
|
|
|
NM_004370.6(COL12A1):c.8650G>T (p.Gly2884Cys)
|
|
|
|
NM_004370.6(COL12A1):c.8672A>G (p.Glu2891Gly)
|
rs1767765917
|
|
|
NM_004370.6(COL12A1):c.867C>T (p.Ser289=)
|
|
|
|
NM_004370.6(COL12A1):c.8685+13A>T
|
|
|
|
NM_004370.6(COL12A1):c.8685+17A>G
|
|
|
|
NM_004370.6(COL12A1):c.8685+18A>G
|
rs2149328733
|
|
|
NM_004370.6(COL12A1):c.8685+18dup
|
rs763196298
|
|
|
NM_004370.6(COL12A1):c.8685+3A>G
|
|
|
|
NM_004370.6(COL12A1):c.8685+4T>C
|
|
|
|
NM_004370.6(COL12A1):c.8685+8T>C
|
rs763115734
|
|
|
NM_004370.6(COL12A1):c.8685G>A (p.Arg2895=)
|
|
|
|
NM_004370.6(COL12A1):c.8686-6A>G
|
|
|
|
NM_004370.6(COL12A1):c.8697T>G (p.Ala2899=)
|
|
|
|
NM_004370.6(COL12A1):c.8703G>A (p.Gln2901=)
|
|
|
|
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter)
|
rs371399251
|
|
|
NM_004370.6(COL12A1):c.871C>A (p.Pro291Thr)
|
rs1319038184
|
|
|
NM_004370.6(COL12A1):c.8720T>A (p.Val2907Asp)
|
|
|
|
NM_004370.6(COL12A1):c.8725A>C (p.Arg2909=)
|
|
|
|
NM_004370.6(COL12A1):c.8740del (p.Gln2914fs)
|
|
|
|
NM_004370.6(COL12A1):c.8751T>A (p.Ser2917Arg)
|
rs1562093184
|
|
|
NM_004370.6(COL12A1):c.8752+14T>C
|
|
|
|
NM_004370.6(COL12A1):c.8752+15C>G
|
|
|
|
NM_004370.6(COL12A1):c.8752+18T>C
|
|
|
|
NM_004370.6(COL12A1):c.8752+5A>C
|
|
|
|
NM_004370.6(COL12A1):c.8752+9del
|
|
|
|
NM_004370.6(COL12A1):c.8759_8762del (p.Met2920fs)
|
|
|
|
NM_004370.6(COL12A1):c.8762A>T (p.Asn2921Ile)
|
rs1767695881
|
|
|
NM_004370.6(COL12A1):c.8771A>G (p.Asn2924Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8777T>C (p.Met2926Thr)
|
|
|
|
NM_004370.6(COL12A1):c.877C>T (p.Leu293=)
|
|
|
|
NM_004370.6(COL12A1):c.8783A>G (p.Asn2928Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8790T>C (p.Ile2930=)
|
|
|
|
NM_004370.6(COL12A1):c.8804A>C (p.Gln2935Pro)
|
|
|
|
NM_004370.6(COL12A1):c.8813G>A (p.Arg2938His)
|
|
|
|
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu)
|
rs752206319
|
|
|
NM_004370.6(COL12A1):c.8828C>T (p.Pro2943Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8829G>A (p.Pro2943=)
|
|
|
|
NM_004370.6(COL12A1):c.8832G>A (p.Pro2944=)
|
rs2149327016
|
|
|
NM_004370.6(COL12A1):c.8835T>A (p.Gly2945=)
|
rs2149327011
|
|
|
NM_004370.6(COL12A1):c.8837C>T (p.Pro2946Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8840C>T (p.Pro2947Leu)
|
|
|
|
NM_004370.6(COL12A1):c.8851G>A (p.Gly2951Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8852G>T (p.Gly2951Val)
|
|
|
|
NM_004370.6(COL12A1):c.8858C>T (p.Ala2953Val)
|
rs1554166746
|
|
|
NM_004370.6(COL12A1):c.8863G>A (p.Ala2955Thr)
|
|
|
|
NM_004370.6(COL12A1):c.8865C>T (p.Ala2955=)
|
rs2149326931
|
|
|
NM_004370.6(COL12A1):c.8868A>G (p.Arg2956=)
|
rs942666795
|
|
|
NM_004370.6(COL12A1):c.8875C>T (p.Pro2959Ser)
|
rs1562090566
|
|
|
NM_004370.6(COL12A1):c.887T>G (p.Val296Gly)
|
rs1769748525
|
|
|
NM_004370.6(COL12A1):c.8880G>C (p.Gly2960=)
|
rs774577979
|
|
|
NM_004370.6(COL12A1):c.8884G>T (p.Gly2962Trp)
|
|
|
|
NM_004370.6(COL12A1):c.8890C>A (p.Arg2964=)
|
rs760317754
|
|
|
NM_004370.6(COL12A1):c.8890C>T (p.Arg2964Trp)
|
rs760317754
|
|
|
NM_004370.6(COL12A1):c.8891G>T (p.Arg2964Leu)
|
rs369768310
|
|
|
NM_004370.6(COL12A1):c.8903C>A (p.Pro2968Gln)
|
|
|
|
NM_004370.6(COL12A1):c.890T>C (p.Phe297Ser)
|
|
|
|
NM_004370.6(COL12A1):c.8912C>A (p.Pro2971Gln)
|
rs1767686939
|
|
|
NM_004370.6(COL12A1):c.8915G>A (p.Gly2972Glu)
|
rs1582030236
|
|
|
NM_004370.6(COL12A1):c.8916G>A (p.Gly2972=)
|
rs2149326803
|
|
|
NM_004370.6(COL12A1):c.8922G>C (p.Gln2974His)
|
|
|
|
NM_004370.6(COL12A1):c.8929C>A (p.Pro2977Thr)
|
rs1310755474
|
|
|
NM_004370.6(COL12A1):c.892A>C (p.Asn298His)
|
rs1404705545
|
|
|
NM_004370.6(COL12A1):c.892A>T (p.Asn298Tyr)
|
rs1404705545
|
|
|
NM_004370.6(COL12A1):c.8931T>C (p.Pro2977=)
|
rs2149326774
|
|
|
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
|
|
|
|
NM_004370.6(COL12A1):c.8939G>A (p.Arg2980Gln)
|
|
|
|
NM_004370.6(COL12A1):c.8941+14G>C
|
|
|
|
NM_004370.6(COL12A1):c.8941+16T>C
|
|
|
|
NM_004370.6(COL12A1):c.8942-14T>G
|
|
|
|
NM_004370.6(COL12A1):c.8942-5C>A
|
|
|
|
NM_004370.6(COL12A1):c.8946G>T (p.Leu2982Phe)
|
rs1767642437
|
|
|
NM_004370.6(COL12A1):c.8953G>A (p.Glu2985Lys)
|
rs1767642101
|
|
|
NM_004370.6(COL12A1):c.8954A>G (p.Glu2985Gly)
|
|
|
|
NM_004370.6(COL12A1):c.8994G>A (p.Gly2998=)
|
rs1321003013
|
|
|
NM_004370.6(COL12A1):c.8994G>C (p.Gly2998=)
|
rs1321003013
|
|
|
NM_004370.6(COL12A1):c.8994G>T (p.Gly2998=)
|
rs1321003013
|
|
|
NM_004370.6(COL12A1):c.899C>T (p.Ala300Val)
|
rs763589676
|
|
|
NM_004370.6(COL12A1):c.89A>G (p.Asp30Gly)
|
rs1582219536
|
|
|
NM_004370.6(COL12A1):c.9003C>A (p.Gly3001=)
|
rs1281725784
|
|
|
NM_004370.6(COL12A1):c.9004C>T (p.Pro3002Ser)
|
|
|
|
NM_004370.6(COL12A1):c.9010+15A>G
|
|
|
|
NM_004370.6(COL12A1):c.9010+4G>C
|
rs2149325295
|
|
|
NM_004370.6(COL12A1):c.9010+5G>A
|
|
|
|
NM_004370.6(COL12A1):c.9011-20T>A
|
rs1336319358
|
|
|
NM_004370.6(COL12A1):c.9011-20_9011-19del
|
|
|
|
NM_004370.6(COL12A1):c.9011-8C>T
|
|
|
|
NM_004370.6(COL12A1):c.9014C>T (p.Pro3005Leu)
|
rs1767574773
|
|
|
NM_004370.6(COL12A1):c.9032C>T (p.Thr3011Ile)
|
rs1767574420
|
|
|
NM_004370.6(COL12A1):c.9039A>C (p.Pro3013=)
|
|
|
|
NM_004370.6(COL12A1):c.9050C>T (p.Thr3017Ile)
|
rs1767573014
|
|
|
NM_004370.6(COL12A1):c.9055T>C (p.Ser3019Pro)
|
rs1307746550
|
|
|
NM_004370.6(COL12A1):c.9065CCCCTGGCC[3] (p.Gly3027_Arg3028insProProGly)
|
|
|
|
NM_004370.6(COL12A1):c.9071G>A (p.Gly3024Asp)
|
|
|
|
NM_004370.6(COL12A1):c.9072C>T (p.Gly3024=)
|
rs572512247
|
|
|
NM_004370.6(COL12A1):c.9073C>T (p.Pro3025Ser)
|
rs560180665
|
|
|
NM_004370.6(COL12A1):c.9074C>A (p.Pro3025His)
|
|
|
|
NM_004370.6(COL12A1):c.9076C>T (p.Pro3026Ser)
|
rs376189614
|
|
|
NM_004370.6(COL12A1):c.9077C>T (p.Pro3026Leu)
|
rs1767570608
|
|
|
NM_004370.6(COL12A1):c.9077del (p.Pro3026fs)
|
|
|
|
NM_004370.6(COL12A1):c.9078del (p.Gly3027fs)
|
rs2149322917
|
|
|
NM_004370.6(COL12A1):c.9081C>T (p.Gly3027=)
|
|
|
|
NM_004370.6(COL12A1):c.9082C>T (p.Arg3028Cys)
|
rs1767569916
|
|
|
NM_004370.6(COL12A1):c.9084T>C (p.Arg3028=)
|
rs1448973629
|
|
|
NM_004370.6(COL12A1):c.9092A>G (p.Asn3031Ser)
|
|
|
|
NM_004370.6(COL12A1):c.9107G>A (p.Gly3036Glu)
|
|
|
|
NM_004370.6(COL12A1):c.9108A>G (p.Gly3036=)
|
rs777425494
|
|
|
NM_004370.6(COL12A1):c.9108A>T (p.Gly3036=)
|
|
|
|
NM_004370.6(COL12A1):c.9109C>T (p.Pro3037Ser)
|
|
|
|
NM_004370.6(COL12A1):c.9115G>A (p.Gly3039Ser)
|
|
|
|
NM_004370.6(COL12A1):c.9119C>T (p.Pro3040Leu)
|
|
|
|
NM_004370.6(COL12A1):c.9122C>T (p.Pro3041Leu)
|
rs1767566470
|
|
|
NM_004370.6(COL12A1):c.9130T>G (p.Cys3044Gly)
|
rs2149322777
|
|
|
NM_004370.6(COL12A1):c.9134A>T (p.Asp3045Val)
|
rs751471471
|
|
|
NM_004370.6(COL12A1):c.913A>G (p.Ile305Val)
|
rs1769746949
|
|
|
NM_004370.6(COL12A1):c.9143A>C (p.Gln3048Pro)
|
|
|
|
NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr)
|
rs1268620135
|
|
|
NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)
|
|
|
|
NM_004370.6(COL12A1):c.9168G>A (p.Gly3056=)
|
|
|
|
NM_004370.6(COL12A1):c.9169C>T (p.Gln3057Ter)
|
|
|
|
NM_004370.6(COL12A1):c.9176A>G (p.Tyr3059Cys)
|
|
|
|
NM_004370.6(COL12A1):c.9178C>T (p.Pro3060Ser)
|
|
|
|
NM_004370.6(COL12A1):c.9181+11G>A
|
|
|
|
NM_004370.6(COL12A1):c.9181+16T>C
|
|
|
|
NM_004370.6(COL12A1):c.9181+18T>C
|
|
|
|
NM_004370.6(COL12A1):c.9181+20G>A
|
|
|
|
NM_004370.6(COL12A1):c.9181+4C>G
|
|
|
|
NM_004370.6(COL12A1):c.9181+5G>A
|
|
|
|
NM_004370.6(COL12A1):c.9182-11A>G
|
|
|
|
NM_004370.6(COL12A1):c.9182-19C>A
|
rs1767498861
|
|
|
NM_004370.6(COL12A1):c.9185C>T (p.Ser3062Phe)
|
|
|
|
NM_004370.6(COL12A1):c.939C>T (p.Ile313=)
|
|
|
|
NM_004370.6(COL12A1):c.946G>A (p.Val316Met)
|
|
|
|
NM_004370.6(COL12A1):c.974G>A (p.Gly325Asp)
|
|
|
|
NM_004370.6(COL12A1):c.97T>G (p.Phe33Val)
|
rs1442527803
|
|
|
NM_004370.6(COL12A1):c.982G>T (p.Val328Phe)
|
rs370040853
|
|
|
NM_004370.6(COL12A1):c.984T>G (p.Val328=)
|
|
|
|
NM_004370.6(COL12A1):c.986G>A (p.Ser329Asn)
|
rs1769743212
|
|
|
NM_004370.6(COL12A1):c.987T>C (p.Ser329=)
|
|
|
|
NM_004370.6(COL12A1):c.993A>C (p.Glu331Asp)
|
|
|
|
NM_004370.6(COL12A1):c.997+15T>G
|
rs2149473736
|
|
|
NM_004370.6(COL12A1):c.997+2T>C
|
|
|
|
NM_004370.6(COL12A1):c.997+7A>G
|
|
|
|
NM_004370.6(COL12A1):c.997+9A>G
|
rs560228996
|
|
|
NM_004370.6(COL12A1):c.998-15C>T
|
|
|
|
NM_004370.6(COL12A1):c.998-17T>C
|
|
|
|
NM_006063.3(KLHL41):c.1017C>T (p.Ser339=)
|
rs1023118686
|
|
|
NM_006063.3(KLHL41):c.101A>G (p.Asp34Gly)
|
rs2105307804
|
|
|
NM_006063.3(KLHL41):c.1038G>A (p.Gln346=)
|
|
|
|
NM_006063.3(KLHL41):c.1041A>T (p.Ile347=)
|
|
|
|
NM_006063.3(KLHL41):c.1044T>G (p.Tyr348Ter)
|
|
|
|
NM_006063.3(KLHL41):c.1055G>T (p.Gly352Val)
|
|
|
|
NM_006063.3(KLHL41):c.1076A>G (p.Asn359Ser)
|
|
|
|
NM_006063.3(KLHL41):c.1081G>T (p.Asp361Tyr)
|
|
|
|
NM_006063.3(KLHL41):c.1095G>A (p.Gln365=)
|
|
|
|
NM_006063.3(KLHL41):c.1110+10A>G
|
|
|
|
NM_006063.3(KLHL41):c.1110+17G>A
|
|
|
|
NM_006063.3(KLHL41):c.1110+6_1110+8del
|
rs1186579373
|
|
|
NM_006063.3(KLHL41):c.1110+7A>G
|
|
|
|
NM_006063.3(KLHL41):c.1111-11G>A
|
|
|
|
NM_006063.3(KLHL41):c.1111-17A>G
|
rs2105309672
|
|
|
NM_006063.3(KLHL41):c.1111-19T>A
|
|
|
|
NM_006063.3(KLHL41):c.1111-21_1111-18del
|
rs143361344
|
|
|
NM_006063.3(KLHL41):c.1111-4del
|
|
|
|
NM_006063.3(KLHL41):c.1111-4dup
|
rs752977858
|
|
|
NM_006063.3(KLHL41):c.1113C>T (p.Leu371=)
|
|
|
|
NM_006063.3(KLHL41):c.1114G>C (p.Asp372His)
|
|
|
|
NM_006063.3(KLHL41):c.1116T>C (p.Asp372=)
|
rs762618255
|
|
|
NM_006063.3(KLHL41):c.1135G>A (p.Val379Ile)
|
rs751438442
|
|
|
NM_006063.3(KLHL41):c.1152G>A (p.Leu384=)
|
rs764468679
|
|
|
NM_006063.3(KLHL41):c.1173C>T (p.Phe391=)
|
|
|
|
NM_006063.3(KLHL41):c.1183G>A (p.Glu395Lys)
|
rs1684085913
|
|
|
NM_006063.3(KLHL41):c.1191T>C (p.Asp397=)
|
|
|
|
NM_006063.3(KLHL41):c.1192G>T (p.Asp398Tyr)
|
rs1574351200
|
|
|
NM_006063.3(KLHL41):c.1202A>G (p.Tyr401Cys)
|
rs2105309733
|
|
|
NM_006063.3(KLHL41):c.1205T>C (p.Val402Ala)
|
rs1684086471
|
|
|
NM_006063.3(KLHL41):c.1225C>G (p.Gln409Glu)
|
rs1168210084
|
|
|
NM_006063.3(KLHL41):c.1239G>A (p.Ser413=)
|
rs376153838
|
|
|
NM_006063.3(KLHL41):c.1268T>C (p.Val423Ala)
|
rs1225657950
|
|
|
NM_006063.3(KLHL41):c.1273G>A (p.Ala425Thr)
|
rs1451090688
|
|
|
NM_006063.3(KLHL41):c.1276A>G (p.Lys426Glu)
|
rs750512280
|
|
|
NM_006063.3(KLHL41):c.1296del (p.Lys432fs)
|
rs1288106608
|
|
|
NM_006063.3(KLHL41):c.1307_1308del (p.Lys436fs)
|
rs2105309832
|
|
|
NM_006063.3(KLHL41):c.1311C>T (p.Val437=)
|
rs780783546
|
|
|
NM_006063.3(KLHL41):c.1313A>G (p.Tyr438Cys)
|
|
|
|
NM_006063.3(KLHL41):c.135T>C (p.Pro45=)
|
|
|
|
NM_006063.3(KLHL41):c.1363A>C (p.Lys455Gln)
|
rs940791315
|
|
|
NM_006063.3(KLHL41):c.1376+15C>T
|
|
|
|
NM_006063.3(KLHL41):c.1377-8G>T
|
rs1684143495
|
|
|
NM_006063.3(KLHL41):c.1393G>A (p.Val465Met)
|
|
|
|
NM_006063.3(KLHL41):c.1393G>T (p.Val465Leu)
|
|
|
|
NM_006063.3(KLHL41):c.1409C>T (p.Pro470Leu)
|
rs779897118
|
|
|
NM_006063.3(KLHL41):c.1412A>G (p.Lys471Arg)
|
|
|
|
NM_006063.3(KLHL41):c.1416dup (p.Gly473fs)
|
rs749464576
|
|
|
NM_006063.3(KLHL41):c.1425G>A (p.Trp475Ter)
|
|
|
|
NM_006063.3(KLHL41):c.1438C>T (p.Pro480Ser)
|
|
|
|
NM_006063.3(KLHL41):c.145T>C (p.Leu49=)
|
|
|
|
NM_006063.3(KLHL41):c.1464T>G (p.Phe488Leu)
|
rs2105311166
|
|
|
NM_006063.3(KLHL41):c.1468G>A (p.Val490Ile)
|
|
|
|
NM_006063.3(KLHL41):c.146T>C (p.Leu49Ser)
|
rs1684003271
|
|
|
NM_006063.3(KLHL41):c.1477C>T (p.His493Tyr)
|
rs2105311181
|
|
|
NM_006063.3(KLHL41):c.1528G>C (p.Ala510Pro)
|
|
|
|
NM_006063.3(KLHL41):c.155_159del (p.Ser52fs)
|
|
|
|
NM_006063.3(KLHL41):c.1560T>C (p.Asn520=)
|
|
|
|
NM_006063.3(KLHL41):c.1561_1562+2del
|
|
|
|
NM_006063.3(KLHL41):c.1566G>A (p.Trp522Ter)
|
rs2105312506
|
|
|
NM_006063.3(KLHL41):c.1580A>G (p.Glu527Gly)
|
rs2105312517
|
|
|
NM_006063.3(KLHL41):c.1587C>G (p.Pro529=)
|
|
|
|
NM_006063.3(KLHL41):c.1590A>G (p.Gln530=)
|
|
|
|
NM_006063.3(KLHL41):c.1603A>T (p.Ile535Phe)
|
rs2105312532
|
|
|
NM_006063.3(KLHL41):c.1605C>A (p.Ile535=)
|
|
|
|
NM_006063.3(KLHL41):c.1624G>C (p.Gly542Arg)
|
|
|
|
NM_006063.3(KLHL41):c.1632_1633del (p.Tyr545fs)
|
|
|
|
NM_006063.3(KLHL41):c.1641T>C (p.Ile547=)
|
rs550333896
|
|
|
NM_006063.3(KLHL41):c.1654A>G (p.Met552Val)
|
|
|
|
NM_006063.3(KLHL41):c.1662A>G (p.Gln554=)
|
|
|
|
NM_006063.3(KLHL41):c.1662A>T (p.Gln554His)
|
rs747439201
|
|
|
NM_006063.3(KLHL41):c.1668G>A (p.Glu556=)
|
|
|
|
NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer)
|
rs1247404453
|
|
|
NM_006063.3(KLHL41):c.1690G>T (p.Glu564Ter)
|
rs2105312600
|
|
|
NM_006063.3(KLHL41):c.170_171delinsCT (p.Tyr57Ser)
|
rs1684004022
|
|
|
NM_006063.3(KLHL41):c.1710-11dup
|
rs762591099
|
|
|
NM_006063.3(KLHL41):c.1710-4_1710-2del
|
rs1479320156
|
|
|
NM_006063.3(KLHL41):c.1710-4_1710-2dup
|
|
|
|
NM_006063.3(KLHL41):c.1712A>G (p.Tyr571Cys)
|
|
|
|
NM_006063.3(KLHL41):c.1717GAT[3] (p.Asp574dup)
|
rs765973620
|
|
|
NM_006063.3(KLHL41):c.1764T>C (p.Ala588=)
|
|
|
|
NM_006063.3(KLHL41):c.1776T>C (p.Ser592=)
|
rs2105314694
|
|
|
NM_006063.3(KLHL41):c.1789C>A (p.Arg597Ser)
|
rs1033276582
|
|
|
NM_006063.3(KLHL41):c.199G>C (p.Asp67His)
|
rs1446324489
|
|
|
NM_006063.3(KLHL41):c.201T>C (p.Asp67=)
|
|
|
|
NM_006063.3(KLHL41):c.215del (p.Lys72fs)
|
rs775513051
|
|
|
NM_006063.3(KLHL41):c.215dup (p.Glu73fs)
|
rs775513051
|
|
|
NM_006063.3(KLHL41):c.223G>A (p.Val75Met)
|
|
|
|
NM_006063.3(KLHL41):c.229G>C (p.Asp77His)
|
rs1222243445
|
|
|
NM_006063.3(KLHL41):c.22G>A (p.Ala8Thr)
|
rs1684001399
|
|
|
NM_006063.3(KLHL41):c.233A>G (p.Asn78Ser)
|
|
|
|
NM_006063.3(KLHL41):c.241C>T (p.Pro81Ser)
|
|
|
|
NM_006063.3(KLHL41):c.266A>G (p.Lys89Arg)
|
|
|
|
NM_006063.3(KLHL41):c.273G>A (p.Leu91=)
|
rs748989835
|
|
|
NM_006063.3(KLHL41):c.273G>T (p.Leu91=)
|
rs748989835
|
|
|
NM_006063.3(KLHL41):c.276C>T (p.Tyr92=)
|
|
|
|
NM_006063.3(KLHL41):c.314A>G (p.Asp105Gly)
|
|
|
|
NM_006063.3(KLHL41):c.318T>G (p.Ile106Met)
|
rs1684007542
|
|
|
NM_006063.3(KLHL41):c.335G>A (p.Arg112His)
|
|
|
|
NM_006063.3(KLHL41):c.33G>C (p.Leu11=)
|
|
|
|
NM_006063.3(KLHL41):c.376C>G (p.Leu126Val)
|
|
|
|
NM_006063.3(KLHL41):c.391G>A (p.Ala131Thr)
|
rs1202015569
|
|
|
NM_006063.3(KLHL41):c.427CTT[2] (p.Leu145del)
|
rs760524187
|
|
|
NM_006063.3(KLHL41):c.431T>C (p.Leu144Pro)
|
|
|
|
NM_006063.3(KLHL41):c.432T>C (p.Leu144=)
|
|
|
|
NM_006063.3(KLHL41):c.450C>T (p.Leu150=)
|
|
|
|
NM_006063.3(KLHL41):c.453C>A (p.Ala151=)
|
|
|
|
NM_006063.3(KLHL41):c.456T>C (p.Ile152=)
|
rs2105307992
|
|
|
NM_006063.3(KLHL41):c.458C>A (p.Ser153Tyr)
|
rs1684010288
|
|
|
NM_006063.3(KLHL41):c.463C>T (p.Arg155Cys)
|
|
|
|
NM_006063.3(KLHL41):c.464G>A (p.Arg155His)
|
|
|
|
NM_006063.3(KLHL41):c.468dup (p.Phe157fs)
|
|
|
|
NM_006063.3(KLHL41):c.495T>G (p.Ile165Met)
|
|
|
|
NM_006063.3(KLHL41):c.50C>G (p.Thr17Ser)
|
|
|
|
NM_006063.3(KLHL41):c.519A>G (p.Gln173=)
|
rs144844327
|
|
|
NM_006063.3(KLHL41):c.519A>T (p.Gln173His)
|
rs144844327
|
|
|
NM_006063.3(KLHL41):c.524C>G (p.Ser175Cys)
|
rs1684011448
|
|
|
NM_006063.3(KLHL41):c.52C>T (p.Leu18Phe)
|
|
|
|
NM_006063.3(KLHL41):c.539T>A (p.Ile180Asn)
|
|
|
|
NM_006063.3(KLHL41):c.558C>G (p.Asp186Glu)
|
|
|
|
NM_006063.3(KLHL41):c.612G>A (p.Val204=)
|
|
|
|
NM_006063.3(KLHL41):c.61G>C (p.Asp21His)
|
|
|
|
NM_006063.3(KLHL41):c.631A>G (p.Arg211Gly)
|
rs1684012984
|
|
|
NM_006063.3(KLHL41):c.657T>C (p.Phe219=)
|
rs2105308093
|
|
|
NM_006063.3(KLHL41):c.65G>C (p.Gly22Ala)
|
rs780361528
|
|
|
NM_006063.3(KLHL41):c.661T>A (p.Cys221Ser)
|
rs2105308096
|
|
|
NM_006063.3(KLHL41):c.734A>T (p.Asn245Ile)
|
rs1684014413
|
|
|
NM_006063.3(KLHL41):c.73G>A (p.Asp25Asn)
|
|
|
|
NM_006063.3(KLHL41):c.73G>T (p.Asp25Tyr)
|
|
|
|
NM_006063.3(KLHL41):c.743T>C (p.Leu248Pro)
|
rs1684014498
|
|
|
NM_006063.3(KLHL41):c.756_757insT (p.Lys253Ter)
|
|
|
|
NM_006063.3(KLHL41):c.769G>C (p.Asp257His)
|
rs916111973
|
|
|
NM_006063.3(KLHL41):c.771T>C (p.Asp257=)
|
|
|
|
NM_006063.3(KLHL41):c.784A>G (p.Lys262Glu)
|
rs759037384
|
|
|
NM_006063.3(KLHL41):c.78C>G (p.Leu26=)
|
|
|
|
NM_006063.3(KLHL41):c.801C>T (p.Ser267=)
|
|
|
|
NM_006063.3(KLHL41):c.807T>A (p.Asn269Lys)
|
rs1684016282
|
|
|
NM_006063.3(KLHL41):c.810C>T (p.Ala270=)
|
|
|
|
NM_006063.3(KLHL41):c.869G>A (p.Gly290Asp)
|
|
|
|
NM_006063.3(KLHL41):c.869G>C (p.Gly290Ala)
|
|
|
|
NM_006063.3(KLHL41):c.897A>C (p.Gly299=)
|
|
|
|
NM_006063.3(KLHL41):c.922T>C (p.Leu308=)
|
rs2105308228
|
|
|
NM_006063.3(KLHL41):c.930_939del (p.Asn310fs)
|
rs1574349645
|
|
|
NM_006063.3(KLHL41):c.931G>A (p.Asp311Asn)
|
|
|
|
NM_006063.3(KLHL41):c.935C>T (p.Thr312Ile)
|
|
|
|
NM_006063.3(KLHL41):c.945G>A (p.Val315=)
|
|
|
|
NM_006063.3(KLHL41):c.959C>A (p.Thr320Lys)
|
rs781536513
|
|
|
NM_006063.3(KLHL41):c.99C>T (p.Ile33=)
|
|
|
|
NM_006790.3(MYOT):c.1006G>C (p.Val336Leu)
|
|
|
|
NM_006790.3(MYOT):c.1020C>T (p.Val340=)
|
rs2149988121
|
|
|
NM_006790.3(MYOT):c.1024+5G>A
|
|
|
|
NM_006790.3(MYOT):c.1025-5T>C
|
rs200696022
|
|
|
NM_006790.3(MYOT):c.1041A>G (p.Arg347=)
|
|
|
|
NM_006790.3(MYOT):c.107_110del (p.Lys36fs)
|
rs398124238
|
|
|
NM_006790.3(MYOT):c.1084G>C (p.Glu362Gln)
|
rs755615381
|
|
|
NM_006790.3(MYOT):c.1086G>C (p.Glu362Asp)
|
|
|
|
NM_006790.3(MYOT):c.1089A>C (p.Gly363=)
|
rs2149989834
|
|
|
NM_006790.3(MYOT):c.1113G>C (p.Gln371His)
|
|
|
|
NM_006790.3(MYOT):c.1118C>T (p.Ser373Leu)
|
|
|
|
NM_006790.3(MYOT):c.1119G>A (p.Ser373=)
|
|
|
|
NM_006790.3(MYOT):c.1126C>A (p.Pro376Thr)
|
|
|
|
NM_006790.3(MYOT):c.1126C>G (p.Pro376Ala)
|
|
|
|
NM_006790.3(MYOT):c.1129C>A (p.Pro377Thr)
|
|
|
|
NM_006790.3(MYOT):c.1142T>C (p.Phe381Ser)
|
|
|
|
NM_006790.3(MYOT):c.1167A>G (p.Val389=)
|
|
|
|
NM_006790.3(MYOT):c.1168C>T (p.Gln390Ter)
|
|
|
|
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)
|
rs121908461
|
|
|
NM_006790.3(MYOT):c.1175A>G (p.Asn392Ser)
|
|
|
|
NM_006790.3(MYOT):c.118A>G (p.Ile40Val)
|
|
|
|
NM_006790.3(MYOT):c.1190+18A>G
|
|
|
|
NM_006790.3(MYOT):c.1191-19T>G
|
|
|
|
NM_006790.3(MYOT):c.1194A>G (p.Leu398=)
|
rs781674627
|
|
|
NM_006790.3(MYOT):c.1202A>G (p.Asp401Gly)
|
|
|
|
NM_006790.3(MYOT):c.1208C>T (p.Thr403Ile)
|
|
|
|
NM_006790.3(MYOT):c.1231A>C (p.Lys411Gln)
|
|
|
|
NM_006790.3(MYOT):c.1253C>T (p.Ala418Val)
|
rs2149990334
|
|
|
NM_006790.3(MYOT):c.1275A>G (p.Ala425=)
|
rs140678912
|
|
|
NM_006790.3(MYOT):c.1275A>T (p.Ala425=)
|
rs140678912
|
|
|
NM_006790.3(MYOT):c.1281T>C (p.Asn427=)
|
|
|
|
NM_006790.3(MYOT):c.1291G>A (p.Val431Met)
|
rs756306645
|
|
|
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)
|
|
|
|
NM_006790.3(MYOT):c.12C>T (p.Tyr4=)
|
|
|
|
NM_006790.3(MYOT):c.1307C>A (p.Thr436Lys)
|
|
|
|
NM_006790.3(MYOT):c.1318G>A (p.Val440Ile)
|
|
|
|
NM_006790.3(MYOT):c.1322C>T (p.Thr441Met)
|
|
|
|
NM_006790.3(MYOT):c.1323G>A (p.Thr441=)
|
|
|
|
NM_006790.3(MYOT):c.1324+12T>A
|
rs1580868461
|
|
|
NM_006790.3(MYOT):c.1324+18C>T
|
rs1266793465
|
|
|
NM_006790.3(MYOT):c.1324+9T>A
|
|
|
|
NM_006790.3(MYOT):c.1325-1G>A
|
|
|
|
NM_006790.3(MYOT):c.1327C>G (p.Arg443Gly)
|
|
|
|
NM_006790.3(MYOT):c.1328G>A (p.Arg443His)
|
|
|
|
NM_006790.3(MYOT):c.1346del (p.Pro449fs)
|
rs780331457
|
|
|
NM_006790.3(MYOT):c.134G>A (p.Arg45His)
|
|
|
|
NM_006790.3(MYOT):c.134G>T (p.Arg45Leu)
|
rs1358850010
|
|
|
NM_006790.3(MYOT):c.1363C>T (p.Arg455Trp)
|
|
|
|
NM_006790.3(MYOT):c.1364G>C (p.Arg455Pro)
|
rs141801816
|
|
|
NM_006790.3(MYOT):c.1366G>A (p.Val456Ile)
|
|
|
|
NM_006790.3(MYOT):c.1369C>A (p.Arg457=)
|
|
|
|
NM_006790.3(MYOT):c.1378T>C (p.Phe460Leu)
|
|
|
|
NM_006790.3(MYOT):c.137A>G (p.Gln46Arg)
|
|
|
|
NM_006790.3(MYOT):c.137A>T (p.Gln46Leu)
|
rs2149978825
|
|
|
NM_006790.3(MYOT):c.1391_1398del (p.Tyr463_Leu464insTer)
|
|
|
|
NM_006790.3(MYOT):c.1392A>T (p.Leu464Phe)
|
|
|
|
NM_006790.3(MYOT):c.1396C>T (p.Leu466Phe)
|
|
|
|
NM_006790.3(MYOT):c.13G>A (p.Glu5Lys)
|
|
|
|
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys)
|
rs145427063
|
|
|
NM_006790.3(MYOT):c.1401T>C (p.Asn467=)
|
rs145427063
|
|
|
NM_006790.3(MYOT):c.1404G>C (p.Gly468=)
|
rs200075800
|
|
|
NM_006790.3(MYOT):c.1409G>C (p.Gly470Ala)
|
rs149213350
|
|
|
NM_006790.3(MYOT):c.1417dup (p.Val473fs)
|
|
|
|
NM_006790.3(MYOT):c.1418T>C (p.Val473Ala)
|
rs748921791
|
|
|
NM_006790.3(MYOT):c.1424A>C (p.Gln475Pro)
|
|
|
|
NM_006790.3(MYOT):c.1425A>G (p.Gln475=)
|
|
|
|
NM_006790.3(MYOT):c.1439_1441del (p.Glu480del)
|
|
|
|
NM_006790.3(MYOT):c.143C>G (p.Thr48Arg)
|
|
|
|
NM_006790.3(MYOT):c.1454G>A (p.Arg485His)
|
|
|
|
NM_006790.3(MYOT):c.1454G>T (p.Arg485Leu)
|
|
|
|
NM_006790.3(MYOT):c.145G>C (p.Glu49Gln)
|
rs199760778
|
|
|
NM_006790.3(MYOT):c.1479T>C (p.Tyr493=)
|
|
|
|
NM_006790.3(MYOT):c.147G>C (p.Glu49Asp)
|
rs1309789504
|
|
|
NM_006790.3(MYOT):c.151A>G (p.Arg51Gly)
|
rs2149978850
|
|
|
NM_006790.3(MYOT):c.156T>C (p.Phe52=)
|
|
|
|
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)
|
rs121908457
|
|
|
NM_006790.3(MYOT):c.16C>G (p.Arg6Gly)
|
|
|
|
NM_006790.3(MYOT):c.16C>T (p.Arg6Cys)
|
|
|
|
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)
|
rs28937597
|
|
|
NM_006790.3(MYOT):c.176G>A (p.Ser59Asn)
|
|
|
|
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys)
|
rs121908458
|
|
|
NM_006790.3(MYOT):c.188C>T (p.Thr63Ile)
|
|
|
|
NM_006790.3(MYOT):c.189C>G (p.Thr63=)
|
|
|
|
NM_006790.3(MYOT):c.198C>A (p.Ser66=)
|
|
|
|
NM_006790.3(MYOT):c.1A>T (p.Met1Leu)
|
rs1561657261
|
|
|
NM_006790.3(MYOT):c.207C>T (p.Phe69=)
|
|
|
|
NM_006790.3(MYOT):c.225G>C (p.Gln75His)
|
|
|
|
NM_006790.3(MYOT):c.239A>G (p.Asn80Ser)
|
|
|
|
NM_006790.3(MYOT):c.240C>T (p.Asn80=)
|
rs529067126
|
|
|
NM_006790.3(MYOT):c.249A>G (p.Gln83=)
|
rs746724861
|
|
|
NM_006790.3(MYOT):c.252G>C (p.Arg84Ser)
|
rs886044687
|
|
|
NM_006790.3(MYOT):c.257C>A (p.Thr86Lys)
|
rs1205992276
|
|
|
NM_006790.3(MYOT):c.279A>G (p.Pro93=)
|
|
|
|
NM_006790.3(MYOT):c.298A>G (p.Ile100Val)
|
rs1423966332
|
|
|
NM_006790.3(MYOT):c.318T>A (p.Asp106Glu)
|
|
|
|
NM_006790.3(MYOT):c.32T>C (p.Ile11Thr)
|
|
|
|
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr)
|
rs114194130
|
|
|
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)
|
rs114194130
|
|
|
NM_006790.3(MYOT):c.357-17_357-14del
|
|
|
|
NM_006790.3(MYOT):c.357-19T>C
|
|
|
|
NM_006790.3(MYOT):c.364C>T (p.Gln122Ter)
|
|
|
|
NM_006790.3(MYOT):c.387A>G (p.Ile129Met)
|
rs1554102960
|
|
|
NM_006790.3(MYOT):c.391G>T (p.Ala131Ser)
|
rs1554102961
|
|
|
NM_006790.3(MYOT):c.409G>A (p.Ala137Thr)
|
|
|
|
NM_006790.3(MYOT):c.427C>T (p.Pro143Ser)
|
|
|
|
NM_006790.3(MYOT):c.436C>T (p.Pro146Ser)
|
rs1755197357
|
|
|
NM_006790.3(MYOT):c.469T>C (p.Leu157=)
|
|
|
|
NM_006790.3(MYOT):c.473T>C (p.Ile158Thr)
|
|
|
|
NM_006790.3(MYOT):c.48A>C (p.Pro16=)
|
rs1755018928
|
|
|
NM_006790.3(MYOT):c.490A>C (p.Lys164Gln)
|
rs1214787397
|
|
|
NM_006790.3(MYOT):c.495G>C (p.Leu165=)
|
|
|
|
NM_006790.3(MYOT):c.49T>A (p.Cys17Ser)
|
|
|
|
NM_006790.3(MYOT):c.500G>A (p.Cys167Tyr)
|
|
|
|
NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr)
|
rs2149978722
|
|
|
NM_006790.3(MYOT):c.516T>C (p.Leu172=)
|
|
|
|
NM_006790.3(MYOT):c.519T>C (p.His173=)
|
rs1417425923
|
|
|
NM_006790.3(MYOT):c.522T>C (p.Asn174=)
|
rs2149982065
|
|
|
NM_006790.3(MYOT):c.524G>T (p.Gly175Val)
|
|
|
|
NM_006790.3(MYOT):c.531+16A>G
|
|
|
|
NM_006790.3(MYOT):c.532-12A>T
|
rs2149983126
|
|
|
NM_006790.3(MYOT):c.532-5T>C
|
rs1313241093
|
|
|
NM_006790.3(MYOT):c.532C>T (p.Arg178Cys)
|
|
|
|
NM_006790.3(MYOT):c.533G>T (p.Arg178Leu)
|
|
|
|
NM_006790.3(MYOT):c.53G>T (p.Gly18Val)
|
|
|
|
NM_006790.3(MYOT):c.552G>C (p.Lys184Asn)
|
rs2149983161
|
|
|
NM_006790.3(MYOT):c.562del (p.Arg188fs)
|
|
|
|
NM_006790.3(MYOT):c.563G>T (p.Arg188Ile)
|
rs370165036
|
|
|
NM_006790.3(MYOT):c.565T>C (p.Leu189=)
|
|
|
|
NM_006790.3(MYOT):c.609T>A (p.Asp203Glu)
|
rs1561660796
|
|
|
NM_006790.3(MYOT):c.614G>C (p.Ser205Thr)
|
|
|
|
NM_006790.3(MYOT):c.61T>A (p.Leu21Met)
|
|
|
|
NM_006790.3(MYOT):c.634-14_634-10del
|
rs747808820
|
|
|
NM_006790.3(MYOT):c.642C>T (p.Asn214=)
|
rs957169726
|
|
|
NM_006790.3(MYOT):c.651T>C (p.His217=)
|
rs2149985942
|
|
|
NM_006790.3(MYOT):c.653C>A (p.Ala218Glu)
|
rs533510304
|
|
|
NM_006790.3(MYOT):c.653C>T (p.Ala218Val)
|
|
|
|
NM_006790.3(MYOT):c.660G>C (p.Leu220=)
|
rs775405759
|
|
|
NM_006790.3(MYOT):c.667C>T (p.Pro223Ser)
|
|
|
|
NM_006790.3(MYOT):c.677A>T (p.Gln226Leu)
|
|
|
|
NM_006790.3(MYOT):c.67C>A (p.Pro23Thr)
|
rs751876756
|
|
|
NM_006790.3(MYOT):c.67C>T (p.Pro23Ser)
|
rs751876756
|
|
|
NM_006790.3(MYOT):c.680_683del (p.Val227fs)
|
rs775014749
|
|
|
NM_006790.3(MYOT):c.683+1G>C
|
rs2149985981
|
|
|
NM_006790.3(MYOT):c.683+8A>T
|
|
|
|
NM_006790.3(MYOT):c.683+8del
|
rs760217241
|
|
|
NM_006790.3(MYOT):c.684-11T>C
|
|
|
|
NM_006790.3(MYOT):c.684-16C>A
|
|
|
|
NM_006790.3(MYOT):c.684-16C>T
|
rs2149986871
|
|
|
NM_006790.3(MYOT):c.684-3T>C
|
|
|
|
NM_006790.3(MYOT):c.684-7C>A
|
|
|
|
NM_006790.3(MYOT):c.685A>G (p.Ser229Gly)
|
|
|
|
NM_006790.3(MYOT):c.690A>G (p.Arg230=)
|
|
|
|
NM_006790.3(MYOT):c.691T>C (p.Ser231Pro)
|
|
|
|
NM_006790.3(MYOT):c.693A>C (p.Ser231=)
|
|
|
|
NM_006790.3(MYOT):c.701G>A (p.Arg234Lys)
|
rs1755447825
|
|
|
NM_006790.3(MYOT):c.709G>A (p.Val237Met)
|
|
|
|
NM_006790.3(MYOT):c.714T>C (p.Asn238=)
|
|
|
|
NM_006790.3(MYOT):c.725C>T (p.Ala242Val)
|
|
|
|
NM_006790.3(MYOT):c.735G>A (p.Glu245=)
|
|
|
|
NM_006790.3(MYOT):c.740T>G (p.Phe247Cys)
|
|
|
|
NM_006790.3(MYOT):c.744C>T (p.Tyr248=)
|
rs1755452268
|
|
|
NM_006790.3(MYOT):c.776T>G (p.Met259Arg)
|
|
|
|
NM_006790.3(MYOT):c.784G>C (p.Asp262His)
|
rs1271782226
|
|
|
NM_006790.3(MYOT):c.793A>C (p.Arg265=)
|
rs1580862520
|
|
|
NM_006790.3(MYOT):c.808G>C (p.Asp270His)
|
rs1561663452
|
|
|
NM_006790.3(MYOT):c.815A>C (p.Lys272Thr)
|
|
|
|
NM_006790.3(MYOT):c.816+12G>C
|
|
|
|
NM_006790.3(MYOT):c.816+16A>G
|
|
|
|
NM_006790.3(MYOT):c.816+17A>G
|
rs1561663485
|
|
|
NM_006790.3(MYOT):c.817-14G>A
|
|
|
|
NM_006790.3(MYOT):c.83C>T (p.Thr28Ile)
|
rs767662244
|
|
|
NM_006790.3(MYOT):c.855A>C (p.Leu285=)
|
|
|
|
NM_006790.3(MYOT):c.866C>G (p.Thr289Arg)
|
|
|
|
NM_006790.3(MYOT):c.86C>T (p.Ser29Phe)
|
rs1580847200
|
|
|
NM_006790.3(MYOT):c.884T>G (p.Leu295Trp)
|
|
|
|
NM_006790.3(MYOT):c.888C>T (p.His296=)
|
rs565902195
|
|
|
NM_006790.3(MYOT):c.900G>A (p.Val300=)
|
|
|
|
NM_006790.3(MYOT):c.903T>C (p.Ser301=)
|
rs1755503081
|
|
|
NM_006790.3(MYOT):c.927C>A (p.Ile309=)
|
|
|
|
NM_006790.3(MYOT):c.935T>C (p.Val312Ala)
|
|
|
|
NM_006790.3(MYOT):c.937G>A (p.Val313Ile)
|
rs760955035
|
|
|
NM_006790.3(MYOT):c.951T>G (p.Asp317Glu)
|
rs753927065
|
|
|
NM_006790.3(MYOT):c.956G>C (p.Gly319Ala)
|
rs1330407694
|
|
|
NM_006790.3(MYOT):c.959C>T (p.Ala320Val)
|
rs2149988068
|
|
|
NM_006790.3(MYOT):c.972T>A (p.Val324=)
|
|
|
|
NM_006790.3(MYOT):c.982A>G (p.Arg328Gly)
|
rs2149988081
|
|
|
NM_006790.3(MYOT):c.983G>A (p.Arg328Lys)
|
|
|
|
NM_006790.3(MYOT):c.98G>T (p.Ser33Ile)
|
rs1554102559
|
|
|
NM_007078.2(LDB3):c.-23-?_93+?dup
|
|
|
|
NM_007078.3(LDB3):c.101C>G (p.Pro34Arg)
|
|
|
|
NM_007078.3(LDB3):c.1023C>T (p.Ala341=)
|
|
|
|
NM_007078.3(LDB3):c.1027A>G (p.Thr343Ala)
|
|
|
|
NM_007078.3(LDB3):c.1028C>T (p.Thr343Ile)
|
|
|
|
NM_007078.3(LDB3):c.1041C>A (p.Ser347=)
|
rs45555240
|
|
|
NM_007078.3(LDB3):c.1041C>T (p.Ser347=)
|
rs45555240
|
|
|
NM_007078.3(LDB3):c.1045_1050dup (p.Ser349_Thr350dup)
|
rs1276121533
|
|
|
NM_007078.3(LDB3):c.1047C>T (p.Ser349=)
|
|
|
|
NM_007078.3(LDB3):c.1053A>T (p.Thr351=)
|
rs2132458705
|
|
|
NM_007078.3(LDB3):c.1069C>T (p.Pro357Ser)
|
|
|
|
NM_007078.3(LDB3):c.1074C>A (p.Ala358=)
|
rs45459491
|
|
|
NM_007078.3(LDB3):c.1074dup (p.Asp359fs)
|
|
|
|
NM_007078.3(LDB3):c.1085+11C>T
|
rs1589663977
|
|
|
NM_007078.3(LDB3):c.1085+15G>C
|
rs1346203787
|
|
|
NM_007078.3(LDB3):c.1086-12G>C
|
|
|
|
NM_007078.3(LDB3):c.1086-247_1231+2del
|
rs1564653469
|
|
|
NM_007078.3(LDB3):c.1088C>G (p.Pro363Arg)
|
|
|
|
NM_007078.3(LDB3):c.108C>G (p.Ser36Arg)
|
rs2132360019
|
|
|
NM_007078.3(LDB3):c.1092G>A (p.Gln364=)
|
rs2132465919
|
|
|
NM_007078.3(LDB3):c.10A>C (p.Ser4Arg)
|
rs727505295
|
|
|
NM_007078.3(LDB3):c.110A>G (p.Lys37Arg)
|
|
|
|
NM_007078.3(LDB3):c.110A>T (p.Lys37Met)
|
rs2132360031
|
|
|
NM_007078.3(LDB3):c.1110C>T (p.Pro370=)
|
|
|
|
NM_007078.3(LDB3):c.1115T>C (p.Val372Ala)
|
|
|
|
NM_007078.3(LDB3):c.1121C>T (p.Ala374Val)
|
rs1554860812
|
|
|
NM_007078.3(LDB3):c.1134T>C (p.Pro378=)
|
|
|
|
NM_007078.3(LDB3):c.114A>C (p.Ala38=)
|
|
|
|
NM_007078.3(LDB3):c.1150T>A (p.Tyr384Asn)
|
rs1554860857
|
|
|
NM_007078.3(LDB3):c.1156G>A (p.Glu386Lys)
|
|
|
|
NM_007078.3(LDB3):c.115G>C (p.Ala39Pro)
|
rs1844983837
|
|
|
NM_007078.3(LDB3):c.1161C>T (p.Gly387=)
|
|
|
|
NM_007078.3(LDB3):c.1167C>T (p.Ala389=)
|
rs768844187
|
|
|
NM_007078.3(LDB3):c.1184C>T (p.Pro395Leu)
|
rs2132466193
|
|
|
NM_007078.3(LDB3):c.1186C>A (p.Arg396=)
|
|
|
|
NM_007078.3(LDB3):c.1186C>G (p.Arg396Gly)
|
|
|
|
NM_007078.3(LDB3):c.1187G>A (p.Arg396Gln)
|
|
|
|
NM_007078.3(LDB3):c.1206C>T (p.Ser402=)
|
|
|
|
NM_007078.3(LDB3):c.1211G>T (p.Arg404Leu)
|
|
|
|
NM_007078.3(LDB3):c.1219_1222del (p.Val407fs)
|
|
|
|
NM_007078.3(LDB3):c.1231+12A>G
|
|
|
|
NM_007078.3(LDB3):c.1231+14dup
|
|
|
|
NM_007078.3(LDB3):c.1231+16G>A
|
|
|
|
NM_007078.3(LDB3):c.1231+4A>C
|
rs2132466323
|
|
|
NM_007078.3(LDB3):c.1231+6_1231+7delinsGC
|
rs2132466334
|
|
|
NM_007078.3(LDB3):c.1231+7G>A
|
rs949994168
|
|
|
NM_007078.3(LDB3):c.1231+8del
|
|
|
|
NM_007078.3(LDB3):c.1231G>C (p.Val411Leu)
|
rs1846585105
|
|
|
NM_007078.3(LDB3):c.1232-11G>T
|
|
|
|
NM_007078.3(LDB3):c.1232-12del
|
rs752301693
|
|
|
NM_007078.3(LDB3):c.1232-12dup
|
rs752301693
|
|
|
NM_007078.3(LDB3):c.1232-14T>G
|
rs1486608602
|
|
|
NM_007078.3(LDB3):c.1232-19T>G
|
|
|
|
NM_007078.3(LDB3):c.1232-6_1232-5delinsGG
|
|
|
|
NM_007078.3(LDB3):c.1232-8T>G
|
rs1256222888
|
|
|
NM_007078.3(LDB3):c.1234C>G (p.Pro412Ala)
|
|
|
|
NM_007078.3(LDB3):c.1234C>T (p.Pro412Ser)
|
|
|
|
NM_007078.3(LDB3):c.1236T>C (p.Pro412=)
|
rs1846868091
|
|
|
NM_007078.3(LDB3):c.123C>T (p.Ser41=)
|
rs147548646
|
|
|
NM_007078.3(LDB3):c.1243A>T (p.Thr415Ser)
|
rs2132481387
|
|
|
NM_007078.3(LDB3):c.1248C>T (p.Tyr416=)
|
|
|
|
NM_007078.3(LDB3):c.1253C>T (p.Pro418Leu)
|
rs141870580
|
|
|
NM_007078.3(LDB3):c.1287C>T (p.Tyr429=)
|
|
|
|
NM_007078.3(LDB3):c.1289C>G (p.Thr430Ser)
|
rs746183666
|
|
|
NM_007078.3(LDB3):c.1289C>T (p.Thr430Ile)
|
rs746183666
|
|
|
NM_007078.3(LDB3):c.1294del (p.Ser432fs)
|
rs756413215
|
|
|
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1])
|
rs397517209
|
|
|
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[3] (p.434APAYTPSP[3])
|
rs397517209
|
|
|
NM_007078.3(LDB3):c.1297C>A (p.Pro433Thr)
|
|
|
|
NM_007078.3(LDB3):c.12T>C (p.Ser4=)
|
|
|
|
NM_007078.3(LDB3):c.1302C>G (p.Ala434=)
|
rs1291822613
|
|
|
NM_007078.3(LDB3):c.1310A>G (p.Tyr437Cys)
|
|
|
|
NM_007078.3(LDB3):c.1313C>G (p.Thr438Ser)
|
rs767914340
|
|
|
NM_007078.3(LDB3):c.1314C>A (p.Thr438=)
|
|
|
|
NM_007078.3(LDB3):c.1317C>T (p.Pro439=)
|
rs397517208
|
|
|
NM_007078.3(LDB3):c.1320C>A (p.Ser440=)
|
rs753917548
|
|
|
NM_007078.3(LDB3):c.1325C>T (p.Ala442Val)
|
rs786205349
|
|
|
NM_007078.3(LDB3):c.1327C>T (p.Pro443Ser)
|
|
|
|
NM_007078.3(LDB3):c.1328C>T (p.Pro443Leu)
|
rs1554863327
|
|
|
NM_007078.3(LDB3):c.1336A>G (p.Thr446Ala)
|
|
|
|
NM_007078.3(LDB3):c.1337C>A (p.Thr446Asn)
|
|
|
|
NM_007078.3(LDB3):c.1337C>T (p.Thr446Ile)
|
rs200476126
|
|
|
NM_007078.3(LDB3):c.1341C>G (p.Pro447=)
|
|
|
|
NM_007078.3(LDB3):c.1343del (p.Ser448fs)
|
|
|
|
NM_007078.3(LDB3):c.1351C>G (p.Pro451Ala)
|
rs1589674758
|
|
|
NM_007078.3(LDB3):c.1361C>T (p.Thr454Ile)
|
rs780337957
|
|
|
NM_007078.3(LDB3):c.1369C>T (p.Pro457Ser)
|
|
|
|
NM_007078.3(LDB3):c.1370C>T (p.Pro457Leu)
|
|
|
|
NM_007078.3(LDB3):c.1379C>T (p.Ala460Val)
|
|
|
|
NM_007078.3(LDB3):c.1387C>T (p.Pro463Ser)
|
|
|
|
NM_007078.3(LDB3):c.1388C>A (p.Pro463His)
|
|
|
|
NM_007078.3(LDB3):c.1396G>A (p.Ala466Thr)
|
|
|
|
NM_007078.3(LDB3):c.1407T>C (p.Tyr469=)
|
|
|
|
NM_007078.3(LDB3):c.1407_1408dup (p.Asn470fs)
|
|
|
|
NM_007078.3(LDB3):c.1414G>C (p.Ala472Pro)
|
rs546736974
|
|
|
NM_007078.3(LDB3):c.1419C>T (p.Pro473=)
|
|
|
|
NM_007078.3(LDB3):c.1426G>T (p.Ala476Ser)
|
rs1222316982
|
|
|
NM_007078.3(LDB3):c.1439dup (p.Ala482fs)
|
rs2132482311
|
|
|
NM_007078.3(LDB3):c.1445C>G (p.Ala482Gly)
|
|
|
|
NM_007078.3(LDB3):c.1445C>T (p.Ala482Val)
|
rs774313535
|
|
|
NM_007078.3(LDB3):c.1446_1454del (p.Glu483_Ala485del)
|
rs1398383245
|
|
|
NM_007078.3(LDB3):c.144C>A (p.Leu48=)
|
rs397517213
|
|
|
NM_007078.3(LDB3):c.144C>G (p.Leu48=)
|
rs397517213
|
|
|
NM_007078.3(LDB3):c.144C>T (p.Leu48=)
|
rs397517213
|
|
|
NM_007078.3(LDB3):c.1457dup (p.Ser486fs)
|
rs1846883652
|
|
|
NM_007078.3(LDB3):c.1458C>T (p.Ser486=)
|
rs2132482407
|
|
|
NM_007078.3(LDB3):c.1459C>T (p.Arg487Cys)
|
rs950395877
|
|
|
NM_007078.3(LDB3):c.145G>A (p.Val49Met)
|
rs200645175
|
|
|
NM_007078.3(LDB3):c.145G>C (p.Val49Leu)
|
rs200645175
|
|
|
NM_007078.3(LDB3):c.1468T>C (p.Trp490Arg)
|
rs1589675054
|
|
|
NM_007078.3(LDB3):c.1471G>A (p.Val491Met)
|
rs397517215
|
|
|
NM_007078.3(LDB3):c.1471G>T (p.Val491Leu)
|
rs397517215
|
|
|
NM_007078.3(LDB3):c.147G>C (p.Val49=)
|
rs45591834
|
|
|
NM_007078.3(LDB3):c.147G>T (p.Val49=)
|
|
|
|
NM_007078.3(LDB3):c.1483A>G (p.Ser495Gly)
|
rs2132482506
|
|
|
NM_007078.3(LDB3):c.1497G>C (p.Lys499Asn)
|
rs1278770988
|
|
|
NM_007078.3(LDB3):c.149T>C (p.Val50Ala)
|
rs1844986603
|
|
|
NM_007078.3(LDB3):c.1505C>T (p.Pro502Leu)
|
rs528611881
|
|
|
NM_007078.3(LDB3):c.1508G>A (p.Gly503Asp)
|
rs777459539
|
|
|
NM_007078.3(LDB3):c.1515C>T (p.Ser505=)
|
|
|
|
NM_007078.3(LDB3):c.152C>T (p.Ala51Val)
|
|
|
|
NM_007078.3(LDB3):c.1535A>G (p.Gln512Arg)
|
rs138951890
|
|
|
NM_007078.3(LDB3):c.1538C>A (p.Thr513Asn)
|
rs748433510
|
|
|
NM_007078.3(LDB3):c.1538C>T (p.Thr513Ile)
|
rs748433510
|
|
|
NM_007078.3(LDB3):c.1543C>T (p.Pro515Ser)
|
|
|
|
NM_007078.3(LDB3):c.1547G>T (p.Arg516Leu)
|
|
|
|
NM_007078.3(LDB3):c.1563C>T (p.Tyr521=)
|
rs1846888210
|
|
|
NM_007078.3(LDB3):c.1565C>A (p.Thr522Asn)
|
rs1846888303
|
|
|
NM_007078.3(LDB3):c.1565C>T (p.Thr522Ile)
|
rs1846888303
|
|
|
NM_007078.3(LDB3):c.1567C>G (p.Pro523Ala)
|
rs794729062
|
|
|
NM_007078.3(LDB3):c.1570G>A (p.Ala524Thr)
|
|
|
|
NM_007078.3(LDB3):c.1574G>C (p.Gly525Ala)
|
|
|
|
NM_007078.3(LDB3):c.157G>A (p.Asp53Asn)
|
rs2132360328
|
|
|
NM_007078.3(LDB3):c.1587A>G (p.Pro529=)
|
rs2132482785
|
|
|
NM_007078.3(LDB3):c.1591C>G (p.Leu531Val)
|
rs2132482794
|
|
|
NM_007078.3(LDB3):c.1599G>C (p.Arg533Ser)
|
rs1846890284
|
|
|
NM_007078.3(LDB3):c.1601_1602dup (p.Thr535fs)
|
rs1846890164
|
|
|
NM_007078.3(LDB3):c.1602_1603insTGCCAC (p.Gly534_Thr535insCysHis)
|
|
|
|
NM_007078.3(LDB3):c.1603_1605delinsTGCCACTCA (p.Thr535delinsCysHisSer)
|
rs1589675306
|
|
|
NM_007078.3(LDB3):c.1604C>T (p.Thr535Ile)
|
|
|
|
NM_007078.3(LDB3):c.1605C>A (p.Thr535=)
|
rs727505207
|
|
|
NM_007078.3(LDB3):c.1607T>C (p.Val536Ala)
|
rs727503128
|
|
|
NM_007078.3(LDB3):c.1609del (p.Gln537fs)
|
rs727503129
|
|
|
NM_007078.3(LDB3):c.160G>C (p.Gly54Arg)
|
rs201786090
|
|
|
NM_007078.3(LDB3):c.1611G>A (p.Gln537=)
|
rs2132482906
|
|
|
NM_007078.3(LDB3):c.1618G>T (p.Glu540Ter)
|
rs1004518756
|
|
|
NM_007078.3(LDB3):c.1622G>A (p.Arg541Gln)
|
|
|
|
NM_007078.3(LDB3):c.1631C>A (p.Ala544Asp)
|
rs1265432173
|
|
|
NM_007078.3(LDB3):c.1647A>G (p.Pro549=)
|
|
|
|
NM_007078.3(LDB3):c.1649T>C (p.Leu550Pro)
|
rs1589675409
|
|
|
NM_007078.3(LDB3):c.1653C>A (p.Cys551Ter)
|
rs45581435
|
|
|
NM_007078.3(LDB3):c.1654G>T (p.Gly552Cys)
|
rs771007816
|
|
|
NM_007078.3(LDB3):c.1671C>T (p.Val557=)
|
|
|
|
NM_007078.3(LDB3):c.1676+19C>T
|
rs2132483146
|
|
|
NM_007078.3(LDB3):c.1676+7T>C
|
|
|
|
NM_007078.3(LDB3):c.1676G>T (p.Arg559Leu)
|
|
|
|
NM_007078.3(LDB3):c.1677-18C>T
|
|
|
|
NM_007078.3(LDB3):c.1677-20G>A
|
rs995596521
|
|
|
NM_007078.3(LDB3):c.1677-9C>T
|
rs2132485273
|
|
|
NM_007078.3(LDB3):c.1677G>A (p.Arg559=)
|
rs1846936388
|
|
|
NM_007078.3(LDB3):c.1679G>T (p.Gly560Val)
|
|
|
|
NM_007078.3(LDB3):c.167A>G (p.Asn56Ser)
|
rs751482077
|
|
|
NM_007078.3(LDB3):c.1689G>T (p.Leu563=)
|
|
|
|
NM_007078.3(LDB3):c.168C>T (p.Asn56=)
|
|
|
|
NM_007078.3(LDB3):c.1700G>A (p.Gly567Asp)
|
rs2132485348
|
|
|
NM_007078.3(LDB3):c.1702C>A (p.Arg568Ser)
|
|
|
|
NM_007078.3(LDB3):c.1702C>T (p.Arg568Cys)
|
|
|
|
NM_007078.3(LDB3):c.1711C>A (p.His571Asn)
|
rs777095535
|
|
|
NM_007078.3(LDB3):c.1714C>T (p.Pro572Ser)
|
|
|
|
NM_007078.3(LDB3):c.171A>G (p.Thr57=)
|
rs754796151
|
|
|
NM_007078.3(LDB3):c.1725C>T (p.Phe575=)
|
|
|
|
NM_007078.3(LDB3):c.1741A>C (p.Lys581Gln)
|
rs751506530
|
|
|
NM_007078.3(LDB3):c.1745C>T (p.Thr582Ile)
|
|
|
|
NM_007078.3(LDB3):c.1752G>C (p.Leu584=)
|
rs1589676711
|
|
|
NM_007078.3(LDB3):c.1752G>T (p.Leu584=)
|
|
|
|
NM_007078.3(LDB3):c.175A>G (p.Thr59Ala)
|
|
|
|
NM_007078.3(LDB3):c.1760T>C (p.Val587Ala)
|
|
|
|
NM_007078.3(LDB3):c.1763G>A (p.Cys588Tyr)
|
rs1449207508
|
|
|
NM_007078.3(LDB3):c.1772A>G (p.Glu591Gly)
|
|
|
|
NM_007078.3(LDB3):c.1773del (p.Glu592fs)
|
rs776530913
|
|
|
NM_007078.3(LDB3):c.1777C>A (p.Gln593Lys)
|
rs2132485566
|
|
|
NM_007078.3(LDB3):c.1779G>A (p.Gln593=)
|
rs1291914478
|
|
|
NM_007078.3(LDB3):c.177C>A (p.Thr59=)
|
rs1844990322
|
|
|
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His)
|
rs727503131
|
|
|
NM_007078.3(LDB3):c.1791C>T (p.Tyr597=)
|
|
|
|
NM_007078.3(LDB3):c.1794T>C (p.Cys598=)
|
rs2132485636
|
|
|
NM_007078.3(LDB3):c.1799G>C (p.Arg600Pro)
|
rs747523570
|
|
|
NM_007078.3(LDB3):c.1806T>A (p.Tyr602Ter)
|
rs2132485699
|
|
|
NM_007078.3(LDB3):c.1812A>G (p.Gln604=)
|
rs1846942056
|
|
|
NM_007078.3(LDB3):c.1824_1825delinsAA (p.Leu609Met)
|
rs2132485761
|
|
|
NM_007078.3(LDB3):c.1827G>C (p.Leu609=)
|
|
|
|
NM_007078.3(LDB3):c.1835A>G (p.Lys612Arg)
|
|
|
|
NM_007078.3(LDB3):c.1835A>T (p.Lys612Met)
|
|
|
|
NM_007078.3(LDB3):c.183C>T (p.Thr61=)
|
|
|
|
NM_007078.3(LDB3):c.1845C>T (p.Thr615=)
|
|
|
|
NM_007078.3(LDB3):c.184C>T (p.His62Tyr)
|
rs779234633
|
|
|
NM_007078.3(LDB3):c.1857+12G>A
|
|
|
|
NM_007078.3(LDB3):c.1857+16C>T
|
|
|
|
NM_007078.3(LDB3):c.1857+3A>G
|
rs367942602
|
|
|
NM_007078.3(LDB3):c.1857+6T>C
|
rs2132485825
|
|
|
NM_007078.3(LDB3):c.1857G>T (p.Gly619=)
|
|
|
|
NM_007078.3(LDB3):c.1858-15G>A
|
|
|
|
NM_007078.3(LDB3):c.1858-3C>A
|
rs748601174
|
|
|
NM_007078.3(LDB3):c.1858-6C>T
|
rs2132487012
|
|
|
NM_007078.3(LDB3):c.1864A>T (p.Met622Leu)
|
|
|
|
NM_007078.3(LDB3):c.1867C>A (p.His623Asn)
|
|
|
|
NM_007078.3(LDB3):c.1872C>G (p.Ala624=)
|
rs2132487109
|
|
|
NM_007078.3(LDB3):c.1888C>A (p.His630Asn)
|
rs2132487146
|
|
|
NM_007078.3(LDB3):c.1895C>G (p.Thr632Ser)
|
rs1195333947
|
|
|
NM_007078.3(LDB3):c.18_23dup (p.Thr8_Gly9insLeuThr)
|
|
|
|
NM_007078.3(LDB3):c.1902C>A (p.Phe634Leu)
|
rs773904344
|
|
|
NM_007078.3(LDB3):c.1903G>C (p.Val635Leu)
|
rs45618633
|
|
|
NM_007078.3(LDB3):c.1904T>A (p.Val635Asp)
|
rs567014755
|
|
|
NM_007078.3(LDB3):c.1907G>A (p.Cys636Tyr)
|
rs397517218
|
|
|
NM_007078.3(LDB3):c.1935C>G (p.Asn645Lys)
|
rs1846970016
|
|
|
NM_007078.3(LDB3):c.1939C>G (p.Leu647Val)
|
|
|
|
NM_007078.3(LDB3):c.1941C>G (p.Leu647=)
|
rs2132487385
|
|
|
NM_007078.3(LDB3):c.1944C>T (p.Phe648=)
|
rs2132487394
|
|
|
NM_007078.3(LDB3):c.1954G>C (p.Asp652His)
|
|
|
|
NM_007078.3(LDB3):c.1957G>A (p.Gly653Arg)
|
|
|
|
NM_007078.3(LDB3):c.1957G>C (p.Gly653Arg)
|
rs149945820
|
|
|
NM_007078.3(LDB3):c.195C>A (p.Ala65=)
|
|
|
|
NM_007078.3(LDB3):c.1968C>A (p.Tyr656Ter)
|
rs2132487443
|
|
|
NM_007078.3(LDB3):c.196C>T (p.Gln66Ter)
|
rs1554849100
|
|
|
NM_007078.3(LDB3):c.1978+13C>T
|
|
|
|
NM_007078.3(LDB3):c.1978+17G>A
|
|
|
|
NM_007078.3(LDB3):c.1978+2_1978+5del
|
rs1554864768
|
|
|
NM_007078.3(LDB3):c.1978+6A>G
|
rs1846973492
|
|
|
NM_007078.3(LDB3):c.1978+9A>C
|
rs1060504199
|
|
|
NM_007078.3(LDB3):c.1979-20C>T
|
|
|
|
NM_007078.3(LDB3):c.1979-7A>C
|
|
|
|
NM_007078.3(LDB3):c.1979-7A>G
|
rs1452733136
|
|
|
NM_007078.3(LDB3):c.1985T>A (p.Ile662Asn)
|
rs2132503371
|
|
|
NM_007078.3(LDB3):c.1990C>T (p.Leu664=)
|
|
|
|
NM_007078.3(LDB3):c.2008C>T (p.His670Tyr)
|
|
|
|
NM_007078.3(LDB3):c.2010T>C (p.His670=)
|
rs759857527
|
|
|
NM_007078.3(LDB3):c.2027del (p.Val676fs)
|
rs2132503498
|
|
|
NM_007078.3(LDB3):c.2031G>T (p.Glu677Asp)
|
|
|
|
NM_007078.3(LDB3):c.2055C>T (p.Ala685=)
|
|
|
|
NM_007078.3(LDB3):c.2062C>T (p.His688Tyr)
|
|
|
|
NM_007078.3(LDB3):c.2066C>G (p.Thr689Ser)
|
rs1847250272
|
|
|
NM_007078.3(LDB3):c.2085C>T (p.Phe695=)
|
|
|
|
NM_007078.3(LDB3):c.2092G>T (p.Ala698Ser)
|
rs45577134
|
|
|
NM_007078.3(LDB3):c.2094+18G>A
|
|
|
|
NM_007078.3(LDB3):c.2094+3A>G
|
rs1847251626
|
|
|
NM_007078.3(LDB3):c.2094+4T>A
|
|
|
|
NM_007078.3(LDB3):c.2095-14G>T
|
rs2132517810
|
|
|
NM_007078.3(LDB3):c.2104G>T (p.Val702Leu)
|
rs773235586
|
|
|
NM_007078.3(LDB3):c.2108A>C (p.Asn703Thr)
|
|
|
|
NM_007078.3(LDB3):c.2108A>G (p.Asn703Ser)
|
|
|
|
NM_007078.3(LDB3):c.2109T>A (p.Asn703Lys)
|
|
|
|
NM_007078.3(LDB3):c.2110C>A (p.Leu704Met)
|
|
|
|
NM_007078.3(LDB3):c.2119C>G (p.Gln707Glu)
|
|
|
|
NM_007078.3(LDB3):c.211T>G (p.Ser71Ala)
|
|
|
|
NM_007078.3(LDB3):c.2128T>C (p.Tyr710His)
|
rs1847526825
|
|
|
NM_007078.3(LDB3):c.212C>G (p.Ser71Cys)
|
rs772249948
|
|
|
NM_007078.3(LDB3):c.2130C>T (p.Tyr710=)
|
rs752415111
|
|
|
NM_007078.3(LDB3):c.2134AAG[1] (p.Lys713del)
|
|
|
|
NM_007078.3(LDB3):c.2136del (p.Lys713fs)
|
rs1847527465
|
|
|
NM_007078.3(LDB3):c.2137A>G (p.Lys713Glu)
|
|
|
|
NM_007078.3(LDB3):c.2145A>G (p.Arg715=)
|
rs1589691797
|
|
|
NM_007078.3(LDB3):c.2147C>A (p.Pro716His)
|
|
|
|
NM_007078.3(LDB3):c.2147C>T (p.Pro716Leu)
|
|
|
|
NM_007078.3(LDB3):c.2150T>G (p.Leu717Arg)
|
rs753237785
|
|
|
NM_007078.3(LDB3):c.2155A>C (p.Lys719Gln)
|
rs397517220
|
|
|
NM_007078.3(LDB3):c.2164G>T (p.Ala722Ser)
|
|
|
|
NM_007078.3(LDB3):c.2167C>T (p.His723Tyr)
|
|
|
|
NM_007078.3(LDB3):c.2173A>C (p.Ile725Leu)
|
rs1554870749
|
|
|
NM_007078.3(LDB3):c.2173A>G (p.Ile725Val)
|
rs1554870749
|
|
|
NM_007078.3(LDB3):c.2174T>C (p.Ile725Thr)
|
rs748399477
|
|
|
NM_007078.3(LDB3):c.2175C>T (p.Ile725=)
|
|
|
|
NM_007078.3(LDB3):c.2177A>G (p.Asn726Ser)
|
rs1335747231
|
|
|
NM_007078.3(LDB3):c.2180T>C (p.Leu727Ser)
|
|
|
|
NM_007078.3(LDB3):c.218G>A (p.Ser73Asn)
|
|
|
|
NM_007078.3(LDB3):c.226T>C (p.Leu76=)
|
|
|
|
NM_007078.3(LDB3):c.23C>A (p.Thr8Asn)
|
rs1060501317
|
|
|
NM_007078.3(LDB3):c.242del (p.Gln81fs)
|
rs1554849133
|
|
|
NM_007078.3(LDB3):c.245+20_245+24del
|
|
|
|
NM_007078.3(LDB3):c.245+7G>A
|
rs2132360859
|
|
|
NM_007078.3(LDB3):c.246-11G>A
|
|
|
|
NM_007078.3(LDB3):c.246-1G>A
|
|
|
|
NM_007078.3(LDB3):c.246-3C>T
|
|
|
|
NM_007078.3(LDB3):c.252G>A (p.Lys84=)
|
|
|
|
NM_007078.3(LDB3):c.256C>T (p.Pro86Ser)
|
|
|
|
NM_007078.3(LDB3):c.258C>T (p.Pro86=)
|
|
|
|
NM_007078.3(LDB3):c.269C>T (p.Ser90Phe)
|
|
|
|
NM_007078.3(LDB3):c.285A>C (p.Pro95=)
|
rs2132363687
|
|
|
NM_007078.3(LDB3):c.287T>C (p.Val96Ala)
|
rs794729056
|
|
|
NM_007078.3(LDB3):c.289dup (p.Gln97fs)
|
rs2132363722
|
|
|
NM_007078.3(LDB3):c.290A>G (p.Gln97Arg)
|
rs762580653
|
|
|
NM_007078.3(LDB3):c.296C>T (p.Pro99Leu)
|
|
|
|
NM_007078.3(LDB3):c.299T>C (p.Leu100Pro)
|
|
|
|
NM_007078.3(LDB3):c.304G>A (p.Val102Met)
|
rs1845031056
|
|
|
NM_007078.3(LDB3):c.309C>A (p.Ile103=)
|
rs1060504198
|
|
|
NM_007078.3(LDB3):c.30C>T (p.Pro10=)
|
rs766817285
|
|
|
NM_007078.3(LDB3):c.319A>T (p.Lys107Ter)
|
rs2132363967
|
|
|
NM_007078.3(LDB3):c.31G>T (p.Gly11Trp)
|
|
|
|
NM_007078.3(LDB3):c.321+16G>A
|
rs1461402519
|
|
|
NM_007078.3(LDB3):c.321+18C>T
|
|
|
|
NM_007078.3(LDB3):c.321+19G>C
|
|
|
|
NM_007078.3(LDB3):c.321+1G>A
|
|
|
|
NM_007078.3(LDB3):c.321+9T>G
|
|
|
|
NM_007078.3(LDB3):c.322-14C>T
|
|
|
|
NM_007078.3(LDB3):c.322-5G>A
|
|
|
|
NM_007078.3(LDB3):c.322-6_322-5del
|
|
|
|
NM_007078.3(LDB3):c.323A>C (p.Asp108Ala)
|
|
|
|
NM_007078.3(LDB3):c.325C>T (p.Pro109Ser)
|
|
|
|
NM_007078.3(LDB3):c.327C>T (p.Pro109=)
|
|
|
|
NM_007078.3(LDB3):c.327del (p.Ala110fs)
|
|
|
|
NM_007078.3(LDB3):c.329C>T (p.Ala110Val)
|
rs1204980784
|
|
|
NM_007078.3(LDB3):c.341A>G (p.Asn114Ser)
|
|
|
|
NM_007078.3(LDB3):c.359C>A (p.Pro120His)
|
rs1365965245
|
|
|
NM_007078.3(LDB3):c.369C>T (p.Ser123=)
|
|
|
|
NM_007078.3(LDB3):c.377C>T (p.Ala126Val)
|
|
|
|
NM_007078.3(LDB3):c.378G>T (p.Ala126=)
|
rs149872184
|
|
|
NM_007078.3(LDB3):c.390AGGCACCCC[1] (p.131GTP[1])
|
rs750334087
|
|
|
NM_007078.3(LDB3):c.390AGGCACCCC[3] (p.131GTP[3])
|
rs750334087
|
|
|
NM_007078.3(LDB3):c.398_454dup (p.Ala151_Phe152insSerGlyThrProGluLeuArgProThrPheSerProAlaPheSerArgProSerAla)
|
|
|
|
NM_007078.3(LDB3):c.399A>T (p.Pro133=)
|
rs769713715
|
|
|
NM_007078.3(LDB3):c.407C>G (p.Pro136Arg)
|
|
|
|
NM_007078.3(LDB3):c.408G>A (p.Pro136=)
|
rs375626151
|
|
|
NM_007078.3(LDB3):c.418C>G (p.Pro140Ala)
|
|
|
|
NM_007078.3(LDB3):c.424T>C (p.Phe142Leu)
|
rs2132371597
|
|
|
NM_007078.3(LDB3):c.444G>C (p.Arg148=)
|
rs754596106
|
|
|
NM_007078.3(LDB3):c.445C>T (p.Pro149Ser)
|
|
|
|
NM_007078.3(LDB3):c.450C>T (p.Ser150=)
|
rs878854907
|
|
|
NM_007078.3(LDB3):c.456CTC[1] (p.Ser154del)
|
|
|
|
NM_007078.3(LDB3):c.465C>A (p.Leu155=)
|
rs45516997
|
|
|
NM_007078.3(LDB3):c.465C>T (p.Leu155=)
|
rs45516997
|
|
|
NM_007078.3(LDB3):c.466G>C (p.Ala156Pro)
|
rs200596619
|
|
|
NM_007078.3(LDB3):c.468C>G (p.Ala156=)
|
|
|
|
NM_007078.3(LDB3):c.469G>A (p.Glu157Lys)
|
rs770678454
|
|
|
NM_007078.3(LDB3):c.46C>T (p.Arg16Cys)
|
|
|
|
NM_007078.3(LDB3):c.470A>G (p.Glu157Gly)
|
|
|
|
NM_007078.3(LDB3):c.472G>T (p.Ala158Ser)
|
|
|
|
NM_007078.3(LDB3):c.473C>T (p.Ala158Val)
|
|
|
|
NM_007078.3(LDB3):c.485G>A (p.Gly162Asp)
|
|
|
|
NM_007078.3(LDB3):c.489T>A (p.Pro163=)
|
|
|
|
NM_007078.3(LDB3):c.492G>A (p.Pro164=)
|
rs368407147
|
|
|
NM_007078.3(LDB3):c.493C>A (p.Arg165=)
|
rs45610637
|
|
|
NM_007078.3(LDB3):c.494G>T (p.Arg165Leu)
|
rs61857115
|
|
|
NM_007078.3(LDB3):c.495G>A (p.Arg165=)
|
|
|
|
NM_007078.3(LDB3):c.497C>A (p.Ala166Asp)
|
|
|
|
NM_007078.3(LDB3):c.4T>A (p.Ser2Thr)
|
rs1564626023
|
|
|
NM_007078.3(LDB3):c.500G>A (p.Ser167Asn)
|
|
|
|
NM_007078.3(LDB3):c.508G>A (p.Ala170Thr)
|
|
|
|
NM_007078.3(LDB3):c.50T>C (p.Leu17Pro)
|
rs2132320405
|
|
|
NM_007078.3(LDB3):c.523G>A (p.Glu175Lys)
|
|
|
|
NM_007078.3(LDB3):c.525G>C (p.Glu175Asp)
|
rs757099637
|
|
|
NM_007078.3(LDB3):c.526G>A (p.Gly176Arg)
|
rs149167391
|
|
|
NM_007078.3(LDB3):c.528G>A (p.Gly176=)
|
rs557479871
|
|
|
NM_007078.3(LDB3):c.528G>C (p.Gly176=)
|
|
|
|
NM_007078.3(LDB3):c.528G>T (p.Gly176=)
|
|
|
|
NM_007078.3(LDB3):c.529del (p.Ala177fs)
|
rs730880345
|
|
|
NM_007078.3(LDB3):c.529dup (p.Ala177fs)
|
rs730880345
|
|
|
NM_007078.3(LDB3):c.532C>T (p.Arg178Trp)
|
rs730880128
|
|
|
NM_007078.3(LDB3):c.541C>T (p.Leu181Phe)
|
rs1589623326
|
|
|
NM_007078.3(LDB3):c.544G>A (p.Gly182Ser)
|
|
|
|
NM_007078.3(LDB3):c.545G>A (p.Gly182Asp)
|
rs2132372366
|
|
|
NM_007078.3(LDB3):c.548del (p.Pro183fs)
|
rs1285270306
|
|
|
NM_007078.3(LDB3):c.55G>A (p.Gly19Arg)
|
rs777413488
|
|
|
NM_007078.3(LDB3):c.55G>C (p.Gly19Arg)
|
rs777413488
|
|
|
NM_007078.3(LDB3):c.55G>T (p.Gly19Trp)
|
rs777413488
|
|
|
NM_007078.3(LDB3):c.565T>G (p.Ser189Ala)
|
|
|
|
NM_007078.3(LDB3):c.566C>A (p.Ser189Ter)
|
|
|
|
NM_007078.3(LDB3):c.567_568delinsTT (p.Ser190Cys)
|
rs2132372538
|
|
|
NM_007078.3(LDB3):c.56G>A (p.Gly19Glu)
|
rs753314972
|
|
|
NM_007078.3(LDB3):c.573G>A (p.Gln191=)
|
|
|
|
NM_007078.3(LDB3):c.575C>G (p.Pro192Arg)
|
rs758182278
|
|
|
NM_007078.3(LDB3):c.576G>A (p.Pro192=)
|
rs45543741
|
|
|
NM_007078.3(LDB3):c.576G>T (p.Pro192=)
|
rs45543741
|
|
|
NM_007078.3(LDB3):c.578G>A (p.Arg193Lys)
|
|
|
|
NM_007078.3(LDB3):c.584A>G (p.Tyr195Cys)
|
|
|
|
NM_007078.3(LDB3):c.58G>A (p.Gly20Ser)
|
|
|
|
NM_007078.3(LDB3):c.591C>T (p.Asn197=)
|
|
|
|
NM_007078.3(LDB3):c.59G>A (p.Gly20Asp)
|
rs1844291597
|
|
|
NM_007078.3(LDB3):c.59dup (p.Lys21fs)
|
|
|
|
NM_007078.3(LDB3):c.603G>A (p.Leu201=)
|
|
|
|
NM_007078.3(LDB3):c.614A>C (p.Glu205Ala)
|
|
|
|
NM_007078.3(LDB3):c.616A>G (p.Thr206Ala)
|
|
|
|
NM_007078.3(LDB3):c.626A>T (p.Glu209Val)
|
rs1845153117
|
|
|
NM_007078.3(LDB3):c.635A>T (p.Gln212Leu)
|
|
|
|
NM_007078.3(LDB3):c.662A>G (p.Lys221Arg)
|
|
|
|
NM_007078.3(LDB3):c.672T>C (p.Gly224=)
|
rs2132373056
|
|
|
NM_007078.3(LDB3):c.675C>G (p.Val225=)
|
rs749425278
|
|
|
NM_007078.3(LDB3):c.680T>A (p.Leu227His)
|
rs888143005
|
|
|
NM_007078.3(LDB3):c.685G>A (p.Gly229Arg)
|
rs1383872346
|
|
|
NM_007078.3(LDB3):c.686G>C (p.Gly229Ala)
|
rs1131691665
|
|
|
NM_007078.3(LDB3):c.689+11G>A
|
|
|
|
NM_007078.3(LDB3):c.689+12A>G
|
|
|
|
NM_007078.3(LDB3):c.689+3870C>T
|
rs1028583921
|
|
|
NM_007078.3(LDB3):c.689+3904A>T
|
rs776327220
|
|
|
NM_007078.3(LDB3):c.689+3916C>A
|
|
|
|
NM_007078.3(LDB3):c.689+8A>G
|
rs2132373164
|
|
|
NM_007078.3(LDB3):c.690-12T>C
|
rs754482860
|
|
|
NM_007078.3(LDB3):c.690-13C>G
|
rs978286642
|
|
|
NM_007078.3(LDB3):c.690-17CT[3]
|
rs544039308
|
|
|
NM_007078.3(LDB3):c.690-2A>G
|
rs1060501315
|
|
|
NM_007078.3(LDB3):c.690-4606C>T
|
|
|
|
NM_007078.3(LDB3):c.690-4611C>T
|
rs901009545
|
|
|
NM_007078.3(LDB3):c.690-4612C>T
|
rs2132397872
|
|
|
NM_007078.3(LDB3):c.690-4618C>A
|
rs764620834
|
|
|
NM_007078.3(LDB3):c.690-4618C>T
|
|
|
|
NM_007078.3(LDB3):c.690-4619G>A
|
|
|
|
NM_007078.3(LDB3):c.690-4619_690-4618delinsTA
|
rs1060501314
|
|
|
NM_007078.3(LDB3):c.690-4621A>T
|
rs370053163
|
|
|
NM_007078.3(LDB3):c.690-4830C>A
|
rs2132396540
|
|
|
NM_007078.3(LDB3):c.690-4835T>A
|
rs2132396498
|
|
|
NM_007078.3(LDB3):c.690-4837C>T
|
rs528725791
|
|
|
NM_007078.3(LDB3):c.690-4842G>T
|
rs113445294
|
|
|
NM_007078.3(LDB3):c.690-4843C>T
|
|
|
|
NM_007078.3(LDB3):c.690-9G>A
|
|
|
|
NM_007078.3(LDB3):c.701T>C (p.Ile234Thr)
|
|
|
|
NM_007078.3(LDB3):c.706G>C (p.Asp236His)
|
|
|
|
NM_007078.3(LDB3):c.721A>G (p.Ser241Gly)
|
|
|
|
NM_007078.3(LDB3):c.722G>A (p.Ser241Asn)
|
|
|
|
NM_007078.3(LDB3):c.72C>T (p.Asn24=)
|
|
|
|
NM_007078.3(LDB3):c.730C>G (p.Pro244Ala)
|
rs1205511323
|
|
|
NM_007078.3(LDB3):c.732C>G (p.Pro244=)
|
|
|
|
NM_007078.3(LDB3):c.735C>T (p.Val245=)
|
rs1329610577
|
|
|
NM_007078.3(LDB3):c.74T>C (p.Met25Thr)
|
|
|
|
NM_007078.3(LDB3):c.763A>G (p.Lys255Glu)
|
|
|
|
NM_007078.3(LDB3):c.76C>T (p.Pro26Ser)
|
rs778865072
|
|
|
NM_007078.3(LDB3):c.785_818dup (p.Ser274fs)
|
|
|
|
NM_007078.3(LDB3):c.792A>G (p.Ala264=)
|
rs1589644038
|
|
|
NM_007078.3(LDB3):c.797G>A (p.Arg266His)
|
|
|
|
NM_007078.3(LDB3):c.805A>C (p.Asn269His)
|
rs1367297073
|
|
|
NM_007078.3(LDB3):c.806A>G (p.Asn269Ser)
|
rs1307504553
|
|
|
NM_007078.3(LDB3):c.80T>C (p.Leu27Pro)
|
rs1057517864
|
|
|
NM_007078.3(LDB3):c.815C>T (p.Ser272Phe)
|
|
|
|
NM_007078.3(LDB3):c.833T>G (p.Leu278Arg)
|
rs1845789692
|
|
|
NM_007078.3(LDB3):c.834G>A (p.Leu278=)
|
|
|
|
NM_007078.3(LDB3):c.836C>G (p.Ala279Gly)
|
rs2132415804
|
|
|
NM_007078.3(LDB3):c.846G>T (p.Thr282=)
|
rs1026972237
|
|
|
NM_007078.3(LDB3):c.859+15T>C
|
|
|
|
NM_007078.3(LDB3):c.859+20G>A
|
|
|
|
NM_007078.3(LDB3):c.859+9A>C
|
|
|
|
NM_007078.3(LDB3):c.859+9A>T
|
|
|
|
NM_007078.3(LDB3):c.860-15C>T
|
rs727503126
|
|
|
NM_007078.3(LDB3):c.860-20C>G
|
|
|
|
NM_007078.3(LDB3):c.860-22_860-12del
|
rs727504602
|
|
|
NM_007078.3(LDB3):c.860-3C>T
|
|
|
|
NM_007078.3(LDB3):c.860-6C>G
|
|
|
|
NM_007078.3(LDB3):c.868C>A (p.Pro290Thr)
|
|
|
|
NM_007078.3(LDB3):c.878A>C (p.Glu293Ala)
|
rs1288594486
|
|
|
NM_007078.3(LDB3):c.886C>T (p.Arg296Ter)
|
rs1060501316
|
|
|
NM_007078.3(LDB3):c.891G>T (p.Arg297Ser)
|
rs374336814
|
|
|
NM_007078.3(LDB3):c.892T>C (p.Ser298Pro)
|
rs953198544
|
|
|
NM_007078.3(LDB3):c.896+6669TC[11]
|
rs71019410
|
|
|
NM_007078.3(LDB3):c.896+6669TC[4]
|
|
|
|
NM_007078.3(LDB3):c.896+6696C>G
|
|
|
|
NM_007078.3(LDB3):c.896+6701C>T
|
|
|
|
NM_007078.3(LDB3):c.897-11C>T
|
rs766463668
|
|
|
NM_007078.3(LDB3):c.897-17T>C
|
|
|
|
NM_007078.3(LDB3):c.897-4T>A
|
rs2132458092
|
|
|
NM_007078.3(LDB3):c.897-6759C>G
|
rs11594242
|
|
|
NM_007078.3(LDB3):c.897-7T>A
|
rs1846448550
|
|
|
NM_007078.3(LDB3):c.897C>T (p.Ser299=)
|
|
|
|
NM_007078.3(LDB3):c.89C>A (p.Ser30Tyr)
|
rs1844293917
|
|
|
NM_007078.3(LDB3):c.89C>G (p.Ser30Cys)
|
|
|
|
NM_007078.3(LDB3):c.903T>G (p.Pro301=)
|
|
|
|
NM_007078.3(LDB3):c.913G>C (p.Ala305Pro)
|
rs573547650
|
|
|
NM_007078.3(LDB3):c.914C>T (p.Ala305Val)
|
|
|
|
NM_007078.3(LDB3):c.915G>A (p.Ala305=)
|
rs753526743
|
|
|
NM_007078.3(LDB3):c.91C>G (p.Arg31Gly)
|
rs367792378
|
|
|
NM_007078.3(LDB3):c.923G>C (p.Cys308Ser)
|
|
|
|
NM_007078.3(LDB3):c.928A>G (p.Ser310Gly)
|
|
|
|
NM_007078.3(LDB3):c.92G>A (p.Arg31Gln)
|
rs1410128172
|
|
|
NM_007078.3(LDB3):c.93+10C>A
|
rs1222755412
|
|
|
NM_007078.3(LDB3):c.93+10C>T
|
|
|
|
NM_007078.3(LDB3):c.93+17A>G
|
rs2132320735
|
|
|
NM_007078.3(LDB3):c.93+1G>T
|
rs727505066
|
|
|
NM_007078.3(LDB3):c.93+7G>T
|
rs397517229
|
|
|
NM_007078.3(LDB3):c.930C>A (p.Ser310Arg)
|
|
|
|
NM_007078.3(LDB3):c.932A>C (p.Gln311Pro)
|
|
|
|
NM_007078.3(LDB3):c.934G>A (p.Ala312Thr)
|
|
|
|
NM_007078.3(LDB3):c.937A>C (p.Thr313Pro)
|
rs1310203563
|
|
|
NM_007078.3(LDB3):c.937A>G (p.Thr313Ala)
|
|
|
|
NM_007078.3(LDB3):c.93G>A (p.Arg31=)
|
rs1564626245
|
|
|
NM_007078.3(LDB3):c.94-14C>T
|
|
|
|
NM_007078.3(LDB3):c.94-17C>T
|
|
|
|
NM_007078.3(LDB3):c.94-20C>T
|
rs779928559
|
|
|
NM_007078.3(LDB3):c.941C>T (p.Thr314Ile)
|
|
|
|
NM_007078.3(LDB3):c.94A>G (p.Ile32Val)
|
|
|
|
NM_007078.3(LDB3):c.953C>A (p.Pro318His)
|
rs1846452720
|
|
|
NM_007078.3(LDB3):c.960T>C (p.Ser320=)
|
|
|
|
NM_007078.3(LDB3):c.961G>A (p.Ala321Thr)
|
|
|
|
NM_007078.3(LDB3):c.990T>C (p.Ser330=)
|
|
|
|
NM_007078.3(LDB3):c.998C>T (p.Ser333Leu)
|
rs1458557837
|
|
|
NM_007078.3(LDB3):c.99dup (p.Pro34fs)
|
rs1554849000
|
|
|
NM_017534.6(MYH2):c.1008+4A>C
|
|
|
|
NM_017534.6(MYH2):c.1008+9A>G
|
|
|
|
NM_017534.6(MYH2):c.1024T>G (p.Leu342Val)
|
rs753710050
|
|
|
NM_017534.6(MYH2):c.1068G>A (p.Thr356=)
|
rs116419997
|
|
|
NM_017534.6(MYH2):c.1068G>C (p.Thr356=)
|
rs116419997
|
|
|
NM_017534.6(MYH2):c.1078A>T (p.Met360Leu)
|
rs201434968
|
|
|
NM_017534.6(MYH2):c.1081C>A (p.His361Asn)
|
rs752699239
|
|
|
NM_017534.6(MYH2):c.1095A>G (p.Leu365=)
|
|
|
|
NM_017534.6(MYH2):c.1114C>T (p.Arg372Cys)
|
|
|
|
NM_017534.6(MYH2):c.1143A>C (p.Thr381=)
|
rs2073530757
|
|
|
NM_017534.6(MYH2):c.1147+7A>G
|
|
|
|
NM_017534.6(MYH2):c.1148-16T>G
|
|
|
|
NM_017534.6(MYH2):c.1148-18A>G
|
|
|
|
NM_017534.6(MYH2):c.1195C>T (p.Leu399Phe)
|
|
|
|
NM_017534.6(MYH2):c.1236G>A (p.Glu412=)
|
rs772987945
|
|
|
NM_017534.6(MYH2):c.1241T>C (p.Val414Ala)
|
rs2073524537
|
|
|
NM_017534.6(MYH2):c.1263A>G (p.Glu421=)
|
rs1170405370
|
|
|
NM_017534.6(MYH2):c.1266+11A>T
|
|
|
|
NM_017534.6(MYH2):c.1266+5G>C
|
rs758217131
|
|
|
NM_017534.6(MYH2):c.1266+7G>A
|
|
|
|
NM_017534.6(MYH2):c.1266+7G>C
|
|
|
|
NM_017534.6(MYH2):c.1275C>G (p.Asn425Lys)
|
rs151000841
|
|
|
NM_017534.6(MYH2):c.1297G>C (p.Ala433Pro)
|
|
|
|
NM_017534.6(MYH2):c.1299C>T (p.Ala433=)
|
|
|
|
NM_017534.6(MYH2):c.1311G>C (p.Lys437Asn)
|
rs2142313163
|
|
|
NM_017534.6(MYH2):c.1316_1321del (p.Phe439_Leu440del)
|
rs2073521807
|
|
|
NM_017534.6(MYH2):c.1334G>T (p.Arg445Leu)
|
rs201040489
|
|
|
NM_017534.6(MYH2):c.1338C>A (p.Ile446=)
|
rs755412365
|
|
|
NM_017534.6(MYH2):c.1353C>T (p.Asp451=)
|
rs2142313100
|
|
|
NM_017534.6(MYH2):c.1358A>G (p.Lys453Arg)
|
rs1555571482
|
|
|
NM_017534.6(MYH2):c.1360C>A (p.Gln454Lys)
|
|
|
|
NM_017534.6(MYH2):c.1360C>G (p.Gln454Glu)
|
|
|
|
NM_017534.6(MYH2):c.137C>A (p.Ser46Tyr)
|
|
|
|
NM_017534.6(MYH2):c.1385T>C (p.Val462Ala)
|
rs2142313049
|
|
|
NM_017534.6(MYH2):c.138C>A (p.Ser46=)
|
|
|
|
NM_017534.6(MYH2):c.1391A>G (p.Asp464Gly)
|
|
|
|
NM_017534.6(MYH2):c.139T>C (p.Phe47Leu)
|
|
|
|
NM_017534.6(MYH2):c.1401T>C (p.Gly467=)
|
rs1597455437
|
|
|
NM_017534.6(MYH2):c.1416+3G>C
|
rs1242041194
|
|
|
NM_017534.6(MYH2):c.1417-10A>G
|
|
|
|
NM_017534.6(MYH2):c.1417-16A>G
|
|
|
|
NM_017534.6(MYH2):c.1417-2_1417-1delinsCC
|
rs2073501817
|
|
|
NM_017534.6(MYH2):c.1434G>A (p.Gln478=)
|
|
|
|
NM_017534.6(MYH2):c.1441A>G (p.Ile481Val)
|
rs2142311275
|
|
|
NM_017534.6(MYH2):c.1444A>T (p.Asn482Tyr)
|
rs886052570
|
|
|
NM_017534.6(MYH2):c.1455T>C (p.Asn485=)
|
|
|
|
NM_017534.6(MYH2):c.1467A>G (p.Gln489=)
|
rs1433555287
|
|
|
NM_017534.6(MYH2):c.1477A>C (p.Asn493His)
|
|
|
|
NM_017534.6(MYH2):c.1482C>T (p.His494=)
|
|
|
|
NM_017534.6(MYH2):c.1493T>C (p.Val498Ala)
|
rs1567733956
|
|
|
NM_017534.6(MYH2):c.1497G>A (p.Leu499=)
|
|
|
|
NM_017534.6(MYH2):c.1504GAG[1] (p.Glu503del)
|
|
|
|
NM_017534.6(MYH2):c.1507G>C (p.Glu503Gln)
|
rs865974946
|
|
|
NM_017534.6(MYH2):c.1516A>G (p.Lys506Glu)
|
|
|
|
NM_017534.6(MYH2):c.1521A>G (p.Glu507=)
|
|
|
|
NM_017534.6(MYH2):c.1526T>A (p.Ile509Asn)
|
|
|
|
NM_017534.6(MYH2):c.1528G>C (p.Glu510Gln)
|
rs772963819
|
|
|
NM_017534.6(MYH2):c.1538T>G (p.Phe513Cys)
|
|
|
|
NM_017534.6(MYH2):c.1542C>T (p.Ile514=)
|
|
|
|
NM_017534.6(MYH2):c.1548C>T (p.Phe516=)
|
|
|
|
NM_017534.6(MYH2):c.1549G>A (p.Gly517Arg)
|
|
|
|
NM_017534.6(MYH2):c.1562C>T (p.Ala521Val)
|
|
|
|
NM_017534.6(MYH2):c.1573G>A (p.Glu525Lys)
|
rs2142311074
|
|
|
NM_017534.6(MYH2):c.1587+12A>G
|
|
|
|
NM_017534.6(MYH2):c.1588-3T>C
|
|
|
|
NM_017534.6(MYH2):c.1595G>A (p.Gly532Asp)
|
|
|
|
NM_017534.6(MYH2):c.15A>C (p.Ser5=)
|
|
|
|
NM_017534.6(MYH2):c.1615GAG[3] (p.Glu540_Cys541insGlu)
|
|
|
|
NM_017534.6(MYH2):c.1622G>A (p.Cys541Tyr)
|
|
|
|
NM_017534.6(MYH2):c.1624A>G (p.Met542Val)
|
|
|
|
NM_017534.6(MYH2):c.1640C>T (p.Thr547Ile)
|
|
|
|
NM_017534.6(MYH2):c.1641A>G (p.Thr547=)
|
|
|
|
NM_017534.6(MYH2):c.1646C>A (p.Thr549Asn)
|
rs1160867842
|
|
|
NM_017534.6(MYH2):c.1646CCT[3] (p.Ser550dup)
|
rs2073495820
|
|
|
NM_017534.6(MYH2):c.1647C>G (p.Thr549=)
|
rs2142310791
|
|
|
NM_017534.6(MYH2):c.1656G>A (p.Lys552=)
|
rs2142310777
|
|
|
NM_017534.6(MYH2):c.1659C>T (p.Asn553=)
|
|
|
|
NM_017534.6(MYH2):c.1673A>T (p.Gln558Leu)
|
rs2073495432
|
|
|
NM_017534.6(MYH2):c.1680G>C (p.Leu560=)
|
rs1254393512
|
|
|
NM_017534.6(MYH2):c.1691C>A (p.Ala564Asp)
|
|
|
|
NM_017534.6(MYH2):c.1695C>A (p.Asn565Lys)
|
rs771444036
|
|
|
NM_017534.6(MYH2):c.1700A>C (p.Gln567Pro)
|
|
|
|
NM_017534.6(MYH2):c.1705C>T (p.Pro569Ser)
|
rs1567733741
|
|
|
NM_017534.6(MYH2):c.1719del (p.Gly574fs)
|
rs2073494828
|
|
|
NM_017534.6(MYH2):c.1737C>G (p.His579Gln)
|
rs2073494382
|
|
|
NM_017534.6(MYH2):c.1750C>A (p.His584Asn)
|
|
|
|
NM_017534.6(MYH2):c.1758T>A (p.Ala586=)
|
rs2073493923
|
|
|
NM_017534.6(MYH2):c.1776C>G (p.Asn592Lys)
|
rs763994556
|
|
|
NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys)
|
rs1555571267
|
|
|
NM_017534.6(MYH2):c.1796A>G (p.Lys599Arg)
|
|
|
|
NM_017534.6(MYH2):c.1806C>T (p.Asp602=)
|
rs147705043
|
|
|
NM_017534.6(MYH2):c.1822G>A (p.Val608Met)
|
|
|
|
NM_017534.6(MYH2):c.1825G>A (p.Val609Ile)
|
|
|
|
NM_017534.6(MYH2):c.1830A>T (p.Gly610=)
|
|
|
|
NM_017534.6(MYH2):c.1847C>G (p.Ala616Gly)
|
|
|
|
NM_017534.6(MYH2):c.184G>C (p.Val62Leu)
|
|
|
|
NM_017534.6(MYH2):c.1897+15T>C
|
|
|
|
NM_017534.6(MYH2):c.1897+1G>T
|
|
|
|
NM_017534.6(MYH2):c.1897+7C>T
|
|
|
|
NM_017534.6(MYH2):c.1898-12C>T
|
|
|
|
NM_017534.6(MYH2):c.1898-6C>T
|
|
|
|
NM_017534.6(MYH2):c.1901G>C (p.Gly634Ala)
|
rs770538729
|
|
|
NM_017534.6(MYH2):c.1901_1902inv (p.Gly634Val)
|
|
|
|
NM_017534.6(MYH2):c.1923A>G (p.Lys641=)
|
rs1333835750
|
|
|
NM_017534.6(MYH2):c.1930AAG[2] (p.Lys646del)
|
rs2142309594
|
|
|
NM_017534.6(MYH2):c.1933_1940dup (p.Ser648fs)
|
|
|
|
NM_017534.6(MYH2):c.1975-14dup
|
|
|
|
NM_017534.6(MYH2):c.1975-9G>C
|
rs3744566
|
|
|
NM_017534.6(MYH2):c.1975-9_1975-8inv
|
|
|
|
NM_017534.6(MYH2):c.2000A>G (p.Asn667Ser)
|
rs750604697
|
|
|
NM_017534.6(MYH2):c.2013C>A (p.Thr671=)
|
|
|
|
NM_017534.6(MYH2):c.2020C>T (p.His674Tyr)
|
rs1555571125
|
|
|
NM_017534.6(MYH2):c.204+20C>T
|
|
|
|
NM_017534.6(MYH2):c.204+4A>G
|
|
|
|
NM_017534.6(MYH2):c.2059C>T (p.Pro687Ser)
|
rs2073469870
|
|
|
NM_017534.6(MYH2):c.2061T>C (p.Pro687=)
|
rs2073469824
|
|
|
NM_017534.6(MYH2):c.2062+17T>C
|
|
|
|
NM_017534.6(MYH2):c.2063-12A>G
|
|
|
|
NM_017534.6(MYH2):c.2063-9C>G
|
|
|
|
NM_017534.6(MYH2):c.2066C>T (p.Ala689Val)
|
|
|
|
NM_017534.6(MYH2):c.2074C>T (p.His692Tyr)
|
|
|
|
NM_017534.6(MYH2):c.2076T>C (p.His692=)
|
|
|
|
NM_017534.6(MYH2):c.2102G>T (p.Cys701Phe)
|
rs1259249860
|
|
|
NM_017534.6(MYH2):c.2125C>G (p.Arg709Gly)
|
|
|
|
NM_017534.6(MYH2):c.2126G>A (p.Arg709His)
|
rs369618095
|
|
|
NM_017534.6(MYH2):c.2153G>T (p.Arg718Ile)
|
rs2073467818
|
|
|
NM_017534.6(MYH2):c.2176C>T (p.Gln726Ter)
|
|
|
|
NM_017534.6(MYH2):c.2180+16T>C
|
|
|
|
NM_017534.6(MYH2):c.2180+7T>G
|
|
|
|
NM_017534.6(MYH2):c.2181-12G>A
|
|
|
|
NM_017534.6(MYH2):c.2181-7T>A
|
rs2073450740
|
|
|
NM_017534.6(MYH2):c.2197G>A (p.Ala733Thr)
|
|
|
|
NM_017534.6(MYH2):c.2208C>T (p.Ile736=)
|
|
|
|
NM_017534.6(MYH2):c.2210C>A (p.Pro737His)
|
|
|
|
NM_017534.6(MYH2):c.2219_2220del (p.Gln740fs)
|
|
|
|
NM_017534.6(MYH2):c.2242T>G (p.Ser748Ala)
|
|
|
|
NM_017534.6(MYH2):c.2244T>C (p.Ser748=)
|
|
|
|
NM_017534.6(MYH2):c.2250G>A (p.Lys750=)
|
|
|
|
NM_017534.6(MYH2):c.2264T>C (p.Ile755Thr)
|
rs1167250510
|
|
|
NM_017534.6(MYH2):c.2305-18A>C
|
|
|
|
NM_017534.6(MYH2):c.2305-19C>A
|
|
|
|
NM_017534.6(MYH2):c.2305-19C>T
|
rs768809024
|
|
|
NM_017534.6(MYH2):c.2305-1G>A
|
rs2142305562
|
|
|
NM_017534.6(MYH2):c.2305-3C>T
|
|
|
|
NM_017534.6(MYH2):c.2334C>G (p.Leu778=)
|
|
|
|
NM_017534.6(MYH2):c.2343G>C (p.Glu781Asp)
|
|
|
|
NM_017534.6(MYH2):c.2346G>A (p.Met782Ile)
|
rs2142305497
|
|
|
NM_017534.6(MYH2):c.2352T>A (p.Asp784Glu)
|
|
|
|
NM_017534.6(MYH2):c.2355C>A (p.Asp785Glu)
|
rs1392938142
|
|
|
NM_017534.6(MYH2):c.2365del (p.Gln789fs)
|
rs2142305450
|
|
|
NM_017534.6(MYH2):c.2383C>A (p.Gln795Lys)
|
|
|
|
NM_017534.6(MYH2):c.2391G>A (p.Arg797=)
|
|
|
|
NM_017534.6(MYH2):c.2393G>A (p.Cys798Tyr)
|
|
|
|
NM_017534.6(MYH2):c.2396G>A (p.Arg799Lys)
|
|
|
|
NM_017534.6(MYH2):c.2396G>C (p.Arg799Thr)
|
rs754150715
|
|
|
NM_017534.6(MYH2):c.2398G>C (p.Gly800Arg)
|
|
|
|
NM_017534.6(MYH2):c.2399G>C (p.Gly800Ala)
|
rs1270329583
|
|
|
NM_017534.6(MYH2):c.2400G>A (p.Gly800=)
|
|
|
|
NM_017534.6(MYH2):c.2418G>A (p.Glu806=)
|
|
|
|
NM_017534.6(MYH2):c.2418del (p.Glu806fs)
|
|
|
|
NM_017534.6(MYH2):c.2422C>G (p.Gln808Glu)
|
|
|
|
NM_017534.6(MYH2):c.2435A>G (p.Glu812Gly)
|
rs1597452607
|
|
|
NM_017534.6(MYH2):c.2441+10del
|
rs765025828
|
|
|
NM_017534.6(MYH2):c.2441+16T>A
|
|
|
|
NM_017534.6(MYH2):c.2441+4T>A
|
|
|
|
NM_017534.6(MYH2):c.2441+7A>G
|
rs1597452591
|
|
|
NM_017534.6(MYH2):c.2442-12A>G
|
|
|
|
NM_017534.6(MYH2):c.2459_2467dup (p.Ile820_Tyr822dup)
|
rs2073428547
|
|
|
NM_017534.6(MYH2):c.2461C>T (p.Gln821Ter)
|
rs2142303605
|
|
|
NM_017534.6(MYH2):c.2467A>G (p.Asn823Asp)
|
rs2073428486
|
|
|
NM_017534.6(MYH2):c.2471T>C (p.Ile824Thr)
|
|
|
|
NM_017534.6(MYH2):c.2478C>T (p.Ser826=)
|
rs2073428153
|
|
|
NM_017534.6(MYH2):c.2501C>T (p.Pro834Leu)
|
rs915946647
|
|
|
NM_017534.6(MYH2):c.2502C>G (p.Pro834=)
|
|
|
|
NM_017534.6(MYH2):c.2514C>A (p.Leu838=)
|
rs1597452081
|
|
|
NM_017534.6(MYH2):c.2514C>T (p.Leu838=)
|
rs1597452081
|
|
|
NM_017534.6(MYH2):c.2518T>C (p.Phe840Leu)
|
rs1242325182
|
|
|
NM_017534.6(MYH2):c.2529G>C (p.Lys843Asn)
|
rs2142303448
|
|
|
NM_017534.6(MYH2):c.2530C>A (p.Pro844Thr)
|
rs1328752239
|
|
|
NM_017534.6(MYH2):c.2532T>G (p.Pro844=)
|
|
|
|
NM_017534.6(MYH2):c.2542A>C (p.Ser848Arg)
|
|
|
|
NM_017534.6(MYH2):c.254A>G (p.Tyr85Cys)
|
|
|
|
NM_017534.6(MYH2):c.2560G>C (p.Glu854Gln)
|
|
|
|
NM_017534.6(MYH2):c.2564T>A (p.Met855Lys)
|
|
|
|
NM_017534.6(MYH2):c.256G>A (p.Asp86Asn)
|
rs1567738501
|
|
|
NM_017534.6(MYH2):c.2571C>G (p.Thr857=)
|
|
|
|
NM_017534.6(MYH2):c.2577G>A (p.Lys859=)
|
|
|
|
NM_017534.6(MYH2):c.2598A>G (p.Lys866=)
|
|
|
|
NM_017534.6(MYH2):c.2609C>T (p.Ala870Val)
|
rs1567731278
|
|
|
NM_017534.6(MYH2):c.2620G>T (p.Ala874Ser)
|
|
|
|
NM_017534.6(MYH2):c.2634A>C (p.Glu878Asp)
|
rs757290160
|
|
|
NM_017534.6(MYH2):c.2635C>T (p.Leu879=)
|
rs2142303234
|
|
|
NM_017534.6(MYH2):c.2642A>G (p.Glu881Gly)
|
|
|
|
NM_017534.6(MYH2):c.2655G>C (p.Thr885=)
|
|
|
|
NM_017534.6(MYH2):c.2666A>G (p.Glu889Gly)
|
|
|
|
NM_017534.6(MYH2):c.2669A>T (p.Lys890Ile)
|
|
|
|
NM_017534.6(MYH2):c.2672dup (p.Asn891fs)
|
rs763860580
|
|
|
NM_017534.6(MYH2):c.2674G>A (p.Asp892Asn)
|
|
|
|
NM_017534.6(MYH2):c.2697+7T>C
|
rs2073424364
|
|
|
NM_017534.6(MYH2):c.2698-20G>C
|
|
|
|
NM_017534.6(MYH2):c.2698-3A>G
|
|
|
|
NM_017534.6(MYH2):c.2698G>A (p.Glu900Lys)
|
|
|
|
NM_017534.6(MYH2):c.2705A>G (p.Glu902Gly)
|
rs2142301095
|
|
|
NM_017534.6(MYH2):c.2720C>G (p.Ala907Gly)
|
|
|
|
NM_017534.6(MYH2):c.2729G>T (p.Arg910Met)
|
rs2073406829
|
|
|
NM_017534.6(MYH2):c.2750C>T (p.Thr917Ile)
|
|
|
|
NM_017534.6(MYH2):c.2761C>T (p.Leu921=)
|
rs2142301002
|
|
|
NM_017534.6(MYH2):c.2768C>G (p.Ala923Gly)
|
|
|
|
NM_017534.6(MYH2):c.276C>T (p.Ala92=)
|
rs2142325071
|
|
|
NM_017534.6(MYH2):c.2775C>G (p.Ile925Met)
|
|
|
|
NM_017534.6(MYH2):c.277A>G (p.Met93Val)
|
|
|
|
NM_017534.6(MYH2):c.2785A>T (p.Thr929Ser)
|
rs1555570593
|
|
|
NM_017534.6(MYH2):c.2831C>A (p.Ala944Asp)
|
rs2142300910
|
|
|
NM_017534.6(MYH2):c.2833A>C (p.Lys945Gln)
|
|
|
|
NM_017534.6(MYH2):c.2840G>A (p.Arg947Lys)
|
rs762535527
|
|
|
NM_017534.6(MYH2):c.2851G>A (p.Asp951Asn)
|
|
|
|
NM_017534.6(MYH2):c.2909T>C (p.Val970Ala)
|
|
|
|
NM_017534.6(MYH2):c.2923C>T (p.His975Tyr)
|
rs754311300
|
|
|
NM_017534.6(MYH2):c.2940+12A>G
|
|
|
|
NM_017534.6(MYH2):c.2940+3ATCA[4]
|
rs775655878
|
|
|
NM_017534.6(MYH2):c.2941-4G>C
|
|
|
|
NM_017534.6(MYH2):c.2941-8C>A
|
|
|
|
NM_017534.6(MYH2):c.2941-8C>T
|
|
|
|
NM_017534.6(MYH2):c.2948A>G (p.Asn983Ser)
|
rs2073401948
|
|
|
NM_017534.6(MYH2):c.2956dup (p.Glu986fs)
|
|
|
|
NM_017534.6(MYH2):c.2969G>T (p.Gly990Val)
|
rs1597451166
|
|
|
NM_017534.6(MYH2):c.2997C>G (p.Thr999=)
|
|
|
|
NM_017534.6(MYH2):c.2999A>C (p.Lys1000Thr)
|
rs912210806
|
|
|
NM_017534.6(MYH2):c.3005A>G (p.Lys1002Arg)
|
rs1324293373
|
|
|
NM_017534.6(MYH2):c.3014del (p.Leu1005fs)
|
rs1567730339
|
|
|
NM_017534.6(MYH2):c.3019G>T (p.Glu1007Ter)
|
rs1226690028
|
|
|
NM_017534.6(MYH2):c.3026A>G (p.His1009Arg)
|
|
|
|
NM_017534.6(MYH2):c.3041A>G (p.Asp1014Gly)
|
|
|
|
NM_017534.6(MYH2):c.3074C>A (p.Thr1025Asn)
|
|
|
|
NM_017534.6(MYH2):c.3099T>C (p.Leu1033=)
|
|
|
|
NM_017534.6(MYH2):c.3103CAA[1] (p.Gln1036del)
|
|
|
|
NM_017534.6(MYH2):c.3117+13T>C
|
rs2142300140
|
|
|
NM_017534.6(MYH2):c.3117+16T>A
|
rs748615133
|
|
|
NM_017534.6(MYH2):c.3117T>C (p.Asp1039=)
|
rs1158331976
|
|
|
NM_017534.6(MYH2):c.3126del (p.Ser1043fs)
|
|
|
|
NM_017534.6(MYH2):c.3136C>G (p.Gln1046Glu)
|
|
|
|
NM_017534.6(MYH2):c.3140A>G (p.Glu1047Gly)
|
rs2073397644
|
|
|
NM_017534.6(MYH2):c.3154A>G (p.Met1052Val)
|
|
|
|
NM_017534.6(MYH2):c.3155T>C (p.Met1052Thr)
|
|
|
|
NM_017534.6(MYH2):c.3156G>A (p.Met1052Ile)
|
|
|
|
NM_017534.6(MYH2):c.3163G>A (p.Glu1055Lys)
|
|
|
|
NM_017534.6(MYH2):c.3174G>C (p.Lys1058Asn)
|
|
|
|
NM_017534.6(MYH2):c.3187G>T (p.Gly1063Cys)
|
|
|
|
NM_017534.6(MYH2):c.3188G>T (p.Gly1063Val)
|
|
|
|
NM_017534.6(MYH2):c.3192C>T (p.Asp1064=)
|
|
|
|
NM_017534.6(MYH2):c.3199T>C (p.Leu1067=)
|
|
|
|
NM_017534.6(MYH2):c.3203C>T (p.Ala1068Val)
|
rs2073396657
|
|
|
NM_017534.6(MYH2):c.3205del (p.Gln1069fs)
|
rs2142299866
|
|
|
NM_017534.6(MYH2):c.3212C>T (p.Ser1071Phe)
|
rs2142299853
|
|
|
NM_017534.6(MYH2):c.3218T>C (p.Met1073Thr)
|
rs1335497096
|
|
|
NM_017534.6(MYH2):c.3223A>C (p.Ile1075Leu)
|
|
|
|
NM_017534.6(MYH2):c.322G>A (p.Glu108Lys)
|
rs1597459444
|
|
|
NM_017534.6(MYH2):c.3250G>A (p.Glu1084Lys)
|
rs2142299795
|
|
|
NM_017534.6(MYH2):c.3263+12_3263+15del
|
rs573872374
|
|
|
NM_017534.6(MYH2):c.3264-10T>A
|
|
|
|
NM_017534.6(MYH2):c.3269A>G (p.Glu1090Gly)
|
|
|
|
NM_017534.6(MYH2):c.3283A>C (p.Asn1095His)
|
|
|
|
NM_017534.6(MYH2):c.3289C>A (p.Gln1097Lys)
|
rs2073393915
|
|
|
NM_017534.6(MYH2):c.3323T>C (p.Ile1108Thr)
|
|
|
|
NM_017534.6(MYH2):c.3331C>A (p.Gln1111Lys)
|
|
|
|
NM_017534.6(MYH2):c.333A>T (p.Ala111=)
|
rs202132767
|
|
|
NM_017534.6(MYH2):c.3353A>C (p.Gln1118Pro)
|
rs575266045
|
|
|
NM_017534.6(MYH2):c.3354+11G>A
|
|
|
|
NM_017534.6(MYH2):c.3354+18del
|
|
|
|
NM_017534.6(MYH2):c.3354+5G>A
|
|
|
|
NM_017534.6(MYH2):c.3354+9_3354+10insATTGCAAGTAAGAC
|
rs1597450796
|
|
|
NM_017534.6(MYH2):c.3355-12C>T
|
|
|
|
NM_017534.6(MYH2):c.3355-8A>G
|
rs1555570464
|
|
|
NM_017534.6(MYH2):c.3359G>A (p.Arg1120His)
|
|
|
|
NM_017534.6(MYH2):c.3364G>A (p.Glu1122Lys)
|
|
|
|
NM_017534.6(MYH2):c.3394C>T (p.Arg1132Trp)
|
|
|
|
NM_017534.6(MYH2):c.3404G>A (p.Arg1135Gln)
|
|
|
|
NM_017534.6(MYH2):c.3435C>G (p.Leu1145=)
|
|
|
|
NM_017534.6(MYH2):c.3448G>A (p.Glu1150Lys)
|
|
|
|
NM_017534.6(MYH2):c.3448GAG[1] (p.Glu1151del)
|
|
|
|
NM_017534.6(MYH2):c.3456C>T (p.Ile1152=)
|
|
|
|
NM_017534.6(MYH2):c.3467_3476del (p.Leu1156fs)
|
|
|
|
NM_017534.6(MYH2):c.3471A>G (p.Glu1157=)
|
|
|
|
NM_017534.6(MYH2):c.3478G>A (p.Gly1160Ser)
|
|
|
|
NM_017534.6(MYH2):c.349-10C>T
|
rs2142321844
|
|
|
NM_017534.6(MYH2):c.349-14T>C
|
|
|
|
NM_017534.6(MYH2):c.349-3T>C
|
|
|
|
NM_017534.6(MYH2):c.349-5C>T
|
rs777007197
|
|
|
NM_017534.6(MYH2):c.3492A>C (p.Ser1164=)
|
|
|
|
NM_017534.6(MYH2):c.3498G>T (p.Gln1166His)
|
rs2073388994
|
|
|
NM_017534.6(MYH2):c.3499A>T (p.Ile1167Phe)
|
|
|
|
NM_017534.6(MYH2):c.3500T>C (p.Ile1167Thr)
|
|
|
|
NM_017534.6(MYH2):c.3510C>T (p.Asn1170=)
|
rs1226573854
|
|
|
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=)
|
rs767243766
|
|
|
NM_017534.6(MYH2):c.3536A>G (p.Lys1179Arg)
|
|
|
|
NM_017534.6(MYH2):c.3552G>C (p.Leu1184=)
|
rs1597450591
|
|
|
NM_017534.6(MYH2):c.3555G>A (p.Glu1185=)
|
|
|
|
NM_017534.6(MYH2):c.3563C>A (p.Thr1188Asn)
|
rs2073387879
|
|
|
NM_017534.6(MYH2):c.357A>T (p.Ser119=)
|
rs1438390266
|
|
|
NM_017534.6(MYH2):c.3584C>A (p.Ala1195Glu)
|
rs373108053
|
|
|
NM_017534.6(MYH2):c.3587C>G (p.Ala1196Gly)
|
rs2142298788
|
|
|
NM_017534.6(MYH2):c.3594G>C (p.Leu1198=)
|
|
|
|
NM_017534.6(MYH2):c.3606T>C (p.His1202=)
|
|
|
|
NM_017534.6(MYH2):c.3635A>G (p.Gln1212Arg)
|
rs1456213666
|
|
|
NM_017534.6(MYH2):c.3640G>A (p.Asp1214Asn)
|
rs1597450495
|
|
|
NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter)
|
rs1187271694
|
|
|
NM_017534.6(MYH2):c.3665A>G (p.Lys1222Arg)
|
|
|
|
NM_017534.6(MYH2):c.3695T>C (p.Met1232Thr)
|
|
|
|
NM_017534.6(MYH2):c.3697G>T (p.Glu1233Ter)
|
|
|
|
NM_017534.6(MYH2):c.3702T>A (p.Ile1234=)
|
|
|
|
NM_017534.6(MYH2):c.3708C>T (p.Asp1236=)
|
rs756540877
|
|
|
NM_017534.6(MYH2):c.3720T>A (p.Asn1240Lys)
|
|
|
|
NM_017534.6(MYH2):c.3721G>A (p.Val1241Ile)
|
rs2073384756
|
|
|
NM_017534.6(MYH2):c.3726A>G (p.Glu1242=)
|
|
|
|
NM_017534.6(MYH2):c.3731T>A (p.Val1244Asp)
|
|
|
|
NM_017534.6(MYH2):c.3740C>G (p.Ala1247Gly)
|
rs2073384604
|
|
|
NM_017534.6(MYH2):c.3745-18T>C
|
|
|
|
NM_017534.6(MYH2):c.3748A>G (p.Asn1250Asp)
|
rs1366353041
|
|
|
NM_017534.6(MYH2):c.3757A>T (p.Lys1253Ter)
|
rs2142297044
|
|
|
NM_017534.6(MYH2):c.3768G>T (p.Arg1256=)
|
|
|
|
NM_017534.6(MYH2):c.3774A>G (p.Leu1258=)
|
rs1597449940
|
|
|
NM_017534.6(MYH2):c.3775G>C (p.Glu1259Gln)
|
|
|
|
NM_017534.6(MYH2):c.3801A>G (p.Ser1267=)
|
|
|
|
NM_017534.6(MYH2):c.3816G>A (p.Gln1272=)
|
|
|
|
NM_017534.6(MYH2):c.382C>A (p.Pro128Thr)
|
rs2142321785
|
|
|
NM_017534.6(MYH2):c.3832G>A (p.Asp1278Asn)
|
rs905151466
|
|
|
NM_017534.6(MYH2):c.3835C>T (p.Leu1279=)
|
|
|
|
NM_017534.6(MYH2):c.3843G>A (p.Ala1281=)
|
|
|
|
NM_017534.6(MYH2):c.3848G>C (p.Arg1283Thr)
|
|
|
|
NM_017534.6(MYH2):c.3848G>T (p.Arg1283Met)
|
rs2073371857
|
|
|
NM_017534.6(MYH2):c.3849G>A (p.Arg1283=)
|
rs1349060342
|
|
|
NM_017534.6(MYH2):c.384C>G (p.Pro128=)
|
|
|
|
NM_017534.6(MYH2):c.384C>T (p.Pro128=)
|
rs776836063
|
|
|
NM_017534.6(MYH2):c.3851G>C (p.Gly1284Ala)
|
|
|
|
NM_017534.6(MYH2):c.3853C>A (p.Arg1285Ser)
|
rs374494789
|
|
|
NM_017534.6(MYH2):c.3853C>T (p.Arg1285Cys)
|
|
|
|
NM_017534.6(MYH2):c.3871+19G>A
|
|
|
|
NM_017534.6(MYH2):c.3871+5C>T
|
|
|
|
NM_017534.6(MYH2):c.3872G>T (p.Gly1291Val)
|
rs747924610
|
|
|
NM_017534.6(MYH2):c.3882A>G (p.Ser1294=)
|
|
|
|
NM_017534.6(MYH2):c.3892G>A (p.Asp1298Asn)
|
rs1046313955
|
|
|
NM_017534.6(MYH2):c.3904G>C (p.Ala1302Pro)
|
|
|
|
NM_017534.6(MYH2):c.3919T>C (p.Leu1307=)
|
rs1597449539
|
|
|
NM_017534.6(MYH2):c.3934C>G (p.Gln1312Glu)
|
|
|
|
NM_017534.6(MYH2):c.3943A>T (p.Thr1315Ser)
|
|
|
|
NM_017534.6(MYH2):c.3944C>T (p.Thr1315Ile)
|
|
|
|
NM_017534.6(MYH2):c.3958G>A (p.Glu1320Lys)
|
|
|
|
NM_017534.6(MYH2):c.3961T>C (p.Leu1321=)
|
rs2142295884
|
|
|
NM_017534.6(MYH2):c.3966G>A (p.Lys1322=)
|
|
|
|
NM_017534.6(MYH2):c.3968G>A (p.Arg1323Lys)
|
|
|
|
NM_017534.6(MYH2):c.3975T>C (p.Leu1325=)
|
|
|
|
NM_017534.6(MYH2):c.3979G>A (p.Glu1327Lys)
|
rs2142295860
|
|
|
NM_017534.6(MYH2):c.3990+7A>G
|
|
|
|
NM_017534.6(MYH2):c.3999C>T (p.Asn1333=)
|
|
|
|
NM_017534.6(MYH2):c.399T>A (p.Pro133=)
|
rs11078850
|
|
|
NM_017534.6(MYH2):c.399T>C (p.Pro133=)
|
rs11078850
|
|
|
NM_017534.6(MYH2):c.3G>C (p.Met1Ile)
|
|
|
|
NM_017534.6(MYH2):c.4000G>A (p.Ala1334Thr)
|
rs779257410
|
|
|
NM_017534.6(MYH2):c.4000G>T (p.Ala1334Ser)
|
rs779257410
|
|
|
NM_017534.6(MYH2):c.4007C>A (p.Ala1336Glu)
|
rs138470281
|
|
|
NM_017534.6(MYH2):c.4007C>T (p.Ala1336Val)
|
rs138470281
|
|
|
NM_017534.6(MYH2):c.4008G>A (p.Ala1336=)
|
rs764189342
|
|
|
NM_017534.6(MYH2):c.4008G>T (p.Ala1336=)
|
rs764189342
|
|
|
NM_017534.6(MYH2):c.4010A>G (p.His1337Arg)
|
rs996870471
|
|
|
NM_017534.6(MYH2):c.4021T>A (p.Ser1341Thr)
|
rs554321580
|
|
|
NM_017534.6(MYH2):c.4026C>T (p.Ser1342=)
|
rs1327908916
|
|
|
NM_017534.6(MYH2):c.4027C>G (p.Arg1343Gly)
|
rs145911509
|
|
|
NM_017534.6(MYH2):c.4048C>T (p.Arg1350Trp)
|
rs776018379
|
|
|
NM_017534.6(MYH2):c.4062G>A (p.Glu1354=)
|
rs2142295471
|
|
|
NM_017534.6(MYH2):c.4083C>G (p.Ala1361=)
|
rs780127918
|
|
|
NM_017534.6(MYH2):c.4083C>T (p.Ala1361=)
|
rs780127918
|
|
|
NM_017534.6(MYH2):c.4092G>A (p.Gln1364=)
|
|
|
|
NM_017534.6(MYH2):c.409C>T (p.Pro137Ser)
|
|
|
|
NM_017534.6(MYH2):c.4102T>C (p.Ser1368Pro)
|
|
|
|
NM_017534.6(MYH2):c.4127A>G (p.Gln1376Arg)
|
|
|
|
NM_017534.6(MYH2):c.4134G>A (p.Arg1378=)
|
|
|
|
NM_017534.6(MYH2):c.4140A>G (p.Lys1380=)
|
|
|
|
NM_017534.6(MYH2):c.4153G>A (p.Ala1385Thr)
|
|
|
|
NM_017534.6(MYH2):c.4185C>G (p.Ala1395=)
|
|
|
|
NM_017534.6(MYH2):c.4187+15A>G
|
|
|
|
NM_017534.6(MYH2):c.4187+16T>A
|
|
|
|
NM_017534.6(MYH2):c.4187+19G>C
|
rs751997182
|
|
|
NM_017534.6(MYH2):c.4187+6T>C
|
rs748256368
|
|
|
NM_017534.6(MYH2):c.4188-11T>G
|
|
|
|
NM_017534.6(MYH2):c.4195C>A (p.Leu1399Met)
|
|
|
|
NM_017534.6(MYH2):c.4204C>T (p.Arg1402Trp)
|
|
|
|
NM_017534.6(MYH2):c.4222G>A (p.Glu1408Lys)
|
rs780588979
|
|
|
NM_017534.6(MYH2):c.4227T>C (p.His1409=)
|
|
|
|
NM_017534.6(MYH2):c.4237G>A (p.Val1413Met)
|
|
|
|
NM_017534.6(MYH2):c.4242C>A (p.Asn1414Lys)
|
rs146615128
|
|
|
NM_017534.6(MYH2):c.4260C>T (p.Leu1420=)
|
|
|
|
NM_017534.6(MYH2):c.4275G>A (p.Gln1425=)
|
rs2142294160
|
|
|
NM_017534.6(MYH2):c.4276C>T (p.Arg1426Trp)
|
rs773071482
|
|
|
NM_017534.6(MYH2):c.4277G>A (p.Arg1426Gln)
|
|
|
|
NM_017534.6(MYH2):c.4284G>A (p.Gln1428=)
|
rs1597448706
|
|
|
NM_017534.6(MYH2):c.4287T>C (p.Asn1429=)
|
|
|
|
NM_017534.6(MYH2):c.4290G>A (p.Glu1430=)
|
|
|
|
NM_017534.6(MYH2):c.4293C>G (p.Val1431=)
|
|
|
|
NM_017534.6(MYH2):c.4293C>T (p.Val1431=)
|
|
|
|
NM_017534.6(MYH2):c.4296G>A (p.Glu1432=)
|
|
|
|
NM_017534.6(MYH2):c.4297G>A (p.Asp1433Asn)
|
|
|
|
NM_017534.6(MYH2):c.4302C>T (p.Leu1434=)
|
|
|
|
NM_017534.6(MYH2):c.4302_4303insG (p.Met1435fs)
|
|
|
|
NM_017534.6(MYH2):c.430C>T (p.Arg144Ter)
|
|
|
|
NM_017534.6(MYH2):c.4317G>A (p.Glu1439=)
|
|
|
|
NM_017534.6(MYH2):c.4337C>G (p.Ala1446Gly)
|
rs1567728069
|
|
|
NM_017534.6(MYH2):c.4339G>A (p.Ala1447Thr)
|
|
|
|
NM_017534.6(MYH2):c.4352del (p.Lys1451fs)
|
rs757195322
|
|
|
NM_017534.6(MYH2):c.435C>A (p.Gly145=)
|
|
|
|
NM_017534.6(MYH2):c.4365C>T (p.Phe1455=)
|
|
|
|
NM_017534.6(MYH2):c.4368T>C (p.Asp1456=)
|
|
|
|
NM_017534.6(MYH2):c.4371+12A>G
|
|
|
|
NM_017534.6(MYH2):c.4371+14C>T
|
rs1182416611
|
|
|
NM_017534.6(MYH2):c.4371+15A>G
|
|
|
|
NM_017534.6(MYH2):c.4371+1del
|
|
|
|
NM_017534.6(MYH2):c.4371+8C>G
|
rs368534809
|
|
|
NM_017534.6(MYH2):c.4372-11del
|
rs2073341840
|
|
|
NM_017534.6(MYH2):c.4372-17A>C
|
|
|
|
NM_017534.6(MYH2):c.4390C>A (p.Gln1464Lys)
|
|
|
|
NM_017534.6(MYH2):c.4420G>T (p.Glu1474Ter)
|
|
|
|
NM_017534.6(MYH2):c.4431G>C (p.Gln1477His)
|
|
|
|
NM_017534.6(MYH2):c.4438del (p.Ala1480fs)
|
rs2073340697
|
|
|
NM_017534.6(MYH2):c.4439C>T (p.Ala1480Val)
|
rs1303566428
|
|
|
NM_017534.6(MYH2):c.443G>A (p.Arg148His)
|
|
|
|
NM_017534.6(MYH2):c.4452C>A (p.Gly1484=)
|
rs2073340376
|
|
|
NM_017534.6(MYH2):c.4478C>T (p.Ala1493Val)
|
rs1034624770
|
|
|
NM_017534.6(MYH2):c.4489T>A (p.Ser1497Thr)
|
|
|
|
NM_017534.6(MYH2):c.4510del (p.Thr1503_Leu1504insTer)
|
|
|
|
NM_017534.6(MYH2):c.4511del (p.Leu1504fs)
|
rs2142293598
|
|
|
NM_017534.6(MYH2):c.4516C>A (p.Arg1506=)
|
rs1597448386
|
|
|
NM_017534.6(MYH2):c.4517G>C (p.Arg1506Pro)
|
rs1049022189
|
|
|
NM_017534.6(MYH2):c.4521G>C (p.Glu1507Asp)
|
rs753714787
|
|
|
NM_017534.6(MYH2):c.4523A>G (p.Asn1508Ser)
|
rs764004345
|
|
|
NM_017534.6(MYH2):c.4529A>C (p.Asn1510Thr)
|
rs1165680648
|
|
|
NM_017534.6(MYH2):c.4534C>G (p.Gln1512Glu)
|
|
|
|
NM_017534.6(MYH2):c.4537+12T>C
|
rs2142293495
|
|
|
NM_017534.6(MYH2):c.4537+1G>C
|
rs567336764
|
|
|
NM_017534.6(MYH2):c.4537+2T>G
|
rs2142293525
|
|
|
NM_017534.6(MYH2):c.4537+5G>C
|
rs1131691628
|
|
|
NM_017534.6(MYH2):c.4537+9C>A
|
|
|
|
NM_017534.6(MYH2):c.4538-14T>C
|
|
|
|
NM_017534.6(MYH2):c.453C>T (p.Ala151=)
|
|
|
|
NM_017534.6(MYH2):c.4556C>A (p.Thr1519Lys)
|
|
|
|
NM_017534.6(MYH2):c.455C>T (p.Pro152Leu)
|
|
|
|
NM_017534.6(MYH2):c.4571_4573del (p.Glu1524del)
|
rs774357063
|
|
|
NM_017534.6(MYH2):c.4572A>C (p.Glu1524Asp)
|
rs1243834294
|
|
|
NM_017534.6(MYH2):c.4581A>T (p.Lys1527Asn)
|
rs2142293289
|
|
|
NM_017534.6(MYH2):c.4585A>G (p.Ile1529Val)
|
rs2073336915
|
|
|
NM_017534.6(MYH2):c.4603A>G (p.Ile1535Val)
|
rs2073336612
|
|
|
NM_017534.6(MYH2):c.4616T>G (p.Val1539Gly)
|
rs2142293220
|
|
|
NM_017534.6(MYH2):c.4629G>C (p.Lys1543Asn)
|
rs776862337
|
|
|
NM_017534.6(MYH2):c.462C>T (p.His154=)
|
rs1440894208
|
|
|
NM_017534.6(MYH2):c.4642G>C (p.Ala1548Pro)
|
rs947669039
|
|
|
NM_017534.6(MYH2):c.4647T>C (p.Ala1549=)
|
|
|
|
NM_017534.6(MYH2):c.465C>A (p.Ile155=)
|
rs777358650
|
|
|
NM_017534.6(MYH2):c.4662+15G>A
|
rs2142293098
|
|
|
NM_017534.6(MYH2):c.4662+19A>G
|
rs759241520
|
|
|
NM_017534.6(MYH2):c.4662+1G>A
|
|
|
|
NM_017534.6(MYH2):c.4662+2T>G
|
rs1597448170
|
|
|
NM_017534.6(MYH2):c.4662G>A (p.Glu1554=)
|
|
|
|
NM_017534.6(MYH2):c.4663-1G>C
|
|
|
|
NM_017534.6(MYH2):c.4667C>G (p.Ser1556Cys)
|
|
|
|
NM_017534.6(MYH2):c.4675C>T (p.His1559Tyr)
|
rs1597448095
|
|
|
NM_017534.6(MYH2):c.4684G>A (p.Gly1562Arg)
|
rs1555569889
|
|
|
NM_017534.6(MYH2):c.468C>T (p.Phe156=)
|
rs1555572051
|
|
|
NM_017534.6(MYH2):c.4691T>C (p.Ile1564Thr)
|
rs2073333613
|
|
|
NM_017534.6(MYH2):c.469T>G (p.Ser157Ala)
|
|
|
|
NM_017534.6(MYH2):c.470C>T (p.Ser157Phe)
|
|
|
|
NM_017534.6(MYH2):c.4731G>A (p.Glu1577=)
|
|
|
|
NM_017534.6(MYH2):c.4737T>A (p.Asp1579Glu)
|
|
|
|
NM_017534.6(MYH2):c.4739G>C (p.Arg1580Thr)
|
rs2142292793
|
|
|
NM_017534.6(MYH2):c.4743A>G (p.Lys1581=)
|
rs1267908976
|
|
|
NM_017534.6(MYH2):c.4756del (p.Asp1586fs)
|
|
|
|
NM_017534.6(MYH2):c.4770C>T (p.Asp1590=)
|
rs1382560529
|
|
|
NM_017534.6(MYH2):c.4810C>T (p.Gln1604Ter)
|
rs772613828
|
|
|
NM_017534.6(MYH2):c.4827T>C (p.Ala1609=)
|
rs2142292649
|
|
|
NM_017534.6(MYH2):c.4829A>T (p.Glu1610Val)
|
rs2142292645
|
|
|
NM_017534.6(MYH2):c.4836G>A (p.Arg1612=)
|
|
|
|
NM_017534.6(MYH2):c.4842del (p.Asn1615fs)
|
rs2073330917
|
|
|
NM_017534.6(MYH2):c.4848T>C (p.Asp1616=)
|
|
|
|
NM_017534.6(MYH2):c.484G>A (p.Ala162Thr)
|
|
|
|
NM_017534.6(MYH2):c.4875G>C (p.Glu1625Asp)
|
|
|
|
NM_017534.6(MYH2):c.4882C>A (p.Leu1628Ile)
|
|
|
|
NM_017534.6(MYH2):c.4882C>T (p.Leu1628Phe)
|
rs2142292545
|
|
|
NM_017534.6(MYH2):c.4886A>G (p.Asn1629Ser)
|
|
|
|
NM_017534.6(MYH2):c.4894G>T (p.Glu1632Ter)
|
|
|
|
NM_017534.6(MYH2):c.4916A>T (p.Asn1639Ile)
|
|
|
|
NM_017534.6(MYH2):c.4937T>C (p.Leu1646Pro)
|
|
|
|
NM_017534.6(MYH2):c.4950G>A (p.Arg1650=)
|
rs2142292423
|
|
|
NM_017534.6(MYH2):c.4953C>G (p.Asn1651Lys)
|
|
|
|
NM_017534.6(MYH2):c.4971+12C>T
|
|
|
|
NM_017534.6(MYH2):c.4971+6T>C
|
|
|
|
NM_017534.6(MYH2):c.4972-19A>G
|
|
|
|
NM_017534.6(MYH2):c.4972-2A>T
|
rs201790813
|
|
|
NM_017534.6(MYH2):c.4973A>G (p.Asp1658Gly)
|
|
|
|
NM_017534.6(MYH2):c.4976C>T (p.Thr1659Ile)
|
|
|
|
NM_017534.6(MYH2):c.4981A>C (p.Ile1661Leu)
|
|
|
|
NM_017534.6(MYH2):c.4997C>G (p.Ala1666Gly)
|
rs773964603
|
|
|
NM_017534.6(MYH2):c.4997C>T (p.Ala1666Val)
|
|
|
|
NM_017534.6(MYH2):c.5013G>A (p.Glu1671=)
|
rs748695702
|
|
|
NM_017534.6(MYH2):c.5014G>A (p.Asp1672Asn)
|
rs1204274669
|
|
|
NM_017534.6(MYH2):c.5031G>C (p.Leu1677=)
|
rs2142292077
|
|
|
NM_017534.6(MYH2):c.5033C>T (p.Ala1678Val)
|
|
|
|
NM_017534.6(MYH2):c.5044C>T (p.Arg1682Cys)
|
|
|
|
NM_017534.6(MYH2):c.505+10C>A
|
|
|
|
NM_017534.6(MYH2):c.505+17C>T
|
|
|
|
NM_017534.6(MYH2):c.5053A>G (p.Asn1685Asp)
|
|
|
|
NM_017534.6(MYH2):c.5072T>C (p.Ile1691Thr)
|
rs2073324867
|
|
|
NM_017534.6(MYH2):c.5084G>A (p.Arg1695Gln)
|
|
|
|
NM_017534.6(MYH2):c.5094G>A (p.Leu1698=)
|
|
|
|
NM_017534.6(MYH2):c.5113A>G (p.Arg1705Gly)
|
|
|
|
NM_017534.6(MYH2):c.5122G>A (p.Ala1708Thr)
|
rs147813930
|
|
|
NM_017534.6(MYH2):c.5129A>G (p.Gln1710Arg)
|
rs2142291882
|
|
|
NM_017534.6(MYH2):c.5152C>A (p.Arg1718Ser)
|
rs1161860650
|
|
|
NM_017534.6(MYH2):c.5152C>T (p.Arg1718Cys)
|
|
|
|
NM_017534.6(MYH2):c.5155G>A (p.Val1719Ile)
|
|
|
|
NM_017534.6(MYH2):c.5171C>G (p.Thr1724Ser)
|
rs202050465
|
|
|
NM_017534.6(MYH2):c.5173C>G (p.Gln1725Glu)
|
rs2073322886
|
|
|
NM_017534.6(MYH2):c.5176-4A>G
|
rs879251009
|
|
|
NM_017534.6(MYH2):c.5180C>G (p.Thr1727Ser)
|
rs750223323
|
|
|
NM_017534.6(MYH2):c.5180C>T (p.Thr1727Ile)
|
rs750223323
|
|
|
NM_017534.6(MYH2):c.5183G>A (p.Ser1728Asn)
|
|
|
|
NM_017534.6(MYH2):c.5185C>G (p.Leu1729Val)
|
|
|
|
NM_017534.6(MYH2):c.5221T>C (p.Ser1741Pro)
|
|
|
|
NM_017534.6(MYH2):c.5231A>G (p.Gln1744Arg)
|
rs1050104425
|
|
|
NM_017534.6(MYH2):c.5235A>G (p.Gly1745=)
|
rs746307508
|
|
|
NM_017534.6(MYH2):c.5238G>C (p.Glu1746Asp)
|
|
|
|
NM_017534.6(MYH2):c.5250T>C (p.Ile1750=)
|
rs1062504
|
|
|
NM_017534.6(MYH2):c.525C>T (p.Ile175=)
|
|
|
|
NM_017534.6(MYH2):c.5260G>T (p.Ala1754Ser)
|
rs2073314725
|
|
|
NM_017534.6(MYH2):c.5284AAG[1] (p.Lys1763del)
|
|
|
|
NM_017534.6(MYH2):c.5301T>C (p.Asp1767=)
|
rs2073313827
|
|
|
NM_017534.6(MYH2):c.5302-10del
|
rs2073312748
|
|
|
NM_017534.6(MYH2):c.5302-5T>C
|
|
|
|
NM_017534.6(MYH2):c.5302-9G>T
|
|
|
|
NM_017534.6(MYH2):c.5311A>G (p.Met1771Val)
|
rs2073312358
|
|
|
NM_017534.6(MYH2):c.533+2T>G
|
rs2142319855
|
|
|
NM_017534.6(MYH2):c.5332del (p.Glu1778fs)
|
|
|
|
NM_017534.6(MYH2):c.534-10G>A
|
rs2142319744
|
|
|
NM_017534.6(MYH2):c.534-21_534-12del
|
|
|
|
NM_017534.6(MYH2):c.5359C>A (p.Arg1787=)
|
|
|
|
NM_017534.6(MYH2):c.5359C>T (p.Arg1787Trp)
|
|
|
|
NM_017534.6(MYH2):c.5363T>C (p.Met1788Thr)
|
|
|
|
NM_017534.6(MYH2):c.5371_5391del (p.Asn1791_Lys1797del)
|
rs2142290581
|
|
|
NM_017534.6(MYH2):c.5374A>G (p.Met1792Val)
|
|
|
|
NM_017534.6(MYH2):c.5382G>C (p.Gln1794His)
|
rs1567726803
|
|
|
NM_017534.6(MYH2):c.5385C>T (p.Thr1795=)
|
|
|
|
NM_017534.6(MYH2):c.5405G>T (p.Arg1802Leu)
|
|
|
|
NM_017534.6(MYH2):c.5414A>C (p.Glu1805Ala)
|
|
|
|
NM_017534.6(MYH2):c.541T>C (p.Ser181Pro)
|
rs2073593497
|
|
|
NM_017534.6(MYH2):c.542C>A (p.Ser181Tyr)
|
|
|
|
NM_017534.6(MYH2):c.5446A>G (p.Lys1816Glu)
|
|
|
|
NM_017534.6(MYH2):c.545G>A (p.Gly182Asp)
|
|
|
|
NM_017534.6(MYH2):c.5462T>C (p.Leu1821Pro)
|
rs2073310003
|
|
|
NM_017534.6(MYH2):c.5466G>T (p.Glu1822Asp)
|
|
|
|
NM_017534.6(MYH2):c.5473-2A>C
|
rs2142290339
|
|
|
NM_017534.6(MYH2):c.5494G>A (p.Val1832Ile)
|
rs1462537897
|
|
|
NM_017534.6(MYH2):c.5511G>C (p.Lys1837Asn)
|
|
|
|
NM_017534.6(MYH2):c.5518G>A (p.Ala1840Thr)
|
rs2073307748
|
|
|
NM_017534.6(MYH2):c.5525C>A (p.Ala1842Asp)
|
|
|
|
NM_017534.6(MYH2):c.5553G>A (p.Arg1851=)
|
|
|
|
NM_017534.6(MYH2):c.5554C>T (p.Arg1852Ter)
|
|
|
|
NM_017534.6(MYH2):c.5555G>T (p.Arg1852Leu)
|
rs769778269
|
|
|
NM_017534.6(MYH2):c.5566C>G (p.Leu1856Val)
|
|
|
|
NM_017534.6(MYH2):c.5569A>G (p.Thr1857Ala)
|
|
|
|
NM_017534.6(MYH2):c.5577+5A>G
|
|
|
|
NM_017534.6(MYH2):c.5577+9A>G
|
|
|
|
NM_017534.6(MYH2):c.5578-19A>G
|
rs2073305593
|
|
|
NM_017534.6(MYH2):c.5579C>G (p.Thr1860Arg)
|
rs148724880
|
|
|
NM_017534.6(MYH2):c.5579C>T (p.Thr1860Met)
|
|
|
|
NM_017534.6(MYH2):c.5584G>C (p.Glu1862Gln)
|
|
|
|
NM_017534.6(MYH2):c.5589T>C (p.Asp1863=)
|
|
|
|
NM_017534.6(MYH2):c.5594_5597del (p.Lys1865fs)
|
rs1567726515
|
|
|
NM_017534.6(MYH2):c.5597A>G (p.Asn1866Ser)
|
|
|
|
NM_017534.6(MYH2):c.559G>A (p.Val187Met)
|
|
|
|
NM_017534.6(MYH2):c.5647T>C (p.Ser1883Pro)
|
rs746016363
|
|
|
NM_017534.6(MYH2):c.5652T>C (p.Tyr1884=)
|
rs2142289887
|
|
|
NM_017534.6(MYH2):c.5652_5656del (p.Tyr1884_Arg1886delinsTer)
|
|
|
|
NM_017534.6(MYH2):c.5653A>G (p.Lys1885Glu)
|
|
|
|
NM_017534.6(MYH2):c.5671G>T (p.Ala1891Ser)
|
|
|
|
NM_017534.6(MYH2):c.5672C>T (p.Ala1891Val)
|
|
|
|
NM_017534.6(MYH2):c.5673+1G>C
|
rs1400481053
|
|
|
NM_017534.6(MYH2):c.5673+3A>C
|
rs2142289859
|
|
|
NM_017534.6(MYH2):c.5673+4_5673+7del
|
|
|
|
NM_017534.6(MYH2):c.5673+5G>A
|
|
|
|
NM_017534.6(MYH2):c.5674-16C>T
|
|
|
|
NM_017534.6(MYH2):c.5674-5C>T
|
|
|
|
NM_017534.6(MYH2):c.5680C>T (p.Gln1894Ter)
|
|
|
|
NM_017534.6(MYH2):c.5690C>G (p.Thr1897Ser)
|
rs1480289239
|
|
|
NM_017534.6(MYH2):c.573T>A (p.Arg191=)
|
rs2073593239
|
|
|
NM_017534.6(MYH2):c.5750A>G (p.Asp1917Gly)
|
|
|
|
NM_017534.6(MYH2):c.5753T>C (p.Ile1918Thr)
|
|
|
|
NM_017534.6(MYH2):c.5755G>A (p.Ala1919Thr)
|
rs1464949119
|
|
|
NM_017534.6(MYH2):c.5779C>A (p.Arg1927=)
|
rs767382926
|
|
|
NM_017534.6(MYH2):c.5801A>C (p.His1934Pro)
|
|
|
|
NM_017534.6(MYH2):c.5G>T (p.Ser2Ile)
|
|
|
|
NM_017534.6(MYH2):c.602T>C (p.Val201Ala)
|
|
|
|
NM_017534.6(MYH2):c.612G>C (p.Glu204Asp)
|
rs1266665896
|
|
|
NM_017534.6(MYH2):c.633T>G (p.Thr211=)
|
|
|
|
NM_017534.6(MYH2):c.635C>A (p.Ser212Tyr)
|
|
|
|
NM_017534.6(MYH2):c.651G>T (p.Gly217=)
|
rs2142319416
|
|
|
NM_017534.6(MYH2):c.682C>A (p.Pro228Thr)
|
rs367639163
|
|
|
NM_017534.6(MYH2):c.683C>G (p.Pro228Arg)
|
rs1389727909
|
|
|
NM_017534.6(MYH2):c.701G>A (p.Gly234Asp)
|
rs1567736673
|
|
|
NM_017534.6(MYH2):c.70C>G (p.Arg24Gly)
|
|
|
|
NM_017534.6(MYH2):c.70C>T (p.Arg24Cys)
|
|
|
|
NM_017534.6(MYH2):c.710A>G (p.Lys237Arg)
|
|
|
|
NM_017534.6(MYH2):c.715G>A (p.Val239Met)
|
|
|
|
NM_017534.6(MYH2):c.71G>A (p.Arg24His)
|
|
|
|
NM_017534.6(MYH2):c.71G>T (p.Arg24Leu)
|
rs141174023
|
|
|
NM_017534.6(MYH2):c.732_738dup (p.Phe247fs)
|
|
|
|
NM_017534.6(MYH2):c.737G>T (p.Arg246Leu)
|
|
|
|
NM_017534.6(MYH2):c.741+11T>C
|
rs1006764609
|
|
|
NM_017534.6(MYH2):c.741+17C>T
|
|
|
|
NM_017534.6(MYH2):c.741+1G>A
|
rs770945288
|
|
|
NM_017534.6(MYH2):c.741+6T>C
|
rs2142319220
|
|
|
NM_017534.6(MYH2):c.742-1G>C
|
rs2142318412
|
|
|
NM_017534.6(MYH2):c.75T>C (p.Ile25=)
|
rs1426892693
|
|
|
NM_017534.6(MYH2):c.762C>A (p.His254Gln)
|
rs2073579202
|
|
|
NM_017534.6(MYH2):c.764T>C (p.Phe255Ser)
|
|
|
|
NM_017534.6(MYH2):c.781C>T (p.Leu261=)
|
rs1191670471
|
|
|
NM_017534.6(MYH2):c.782T>C (p.Leu261Pro)
|
rs1597457334
|
|
|
NM_017534.6(MYH2):c.798T>G (p.Ile266Met)
|
rs2073578403
|
|
|
NM_017534.6(MYH2):c.805+12G>T
|
|
|
|
NM_017534.6(MYH2):c.805+16del
|
|
|
|
NM_017534.6(MYH2):c.806-20T>C
|
|
|
|
NM_017534.6(MYH2):c.844G>A (p.Ala282Thr)
|
|
|
|
NM_017534.6(MYH2):c.897A>T (p.Glu299Asp)
|
rs201854230
|
|
|
NM_017534.6(MYH2):c.903T>C (p.Ile301=)
|
|
|
|
NM_017534.6(MYH2):c.904+19C>A
|
|
|
|
NM_017534.6(MYH2):c.904+19C>T
|
|
|
|
NM_017534.6(MYH2):c.904+1G>A
|
rs879255253
|
|
|
NM_017534.6(MYH2):c.905-17C>T
|
|
|
|
NM_017534.6(MYH2):c.905-8G>A
|
|
|
|
NM_017534.6(MYH2):c.919A>G (p.Thr307Ala)
|
|
|
|
NM_017534.6(MYH2):c.91C>A (p.Pro31Thr)
|
|
|
|
NM_017534.6(MYH2):c.91C>T (p.Pro31Ser)
|
|
|
|
NM_017534.6(MYH2):c.923C>T (p.Thr308Met)
|
rs2073541339
|
|
|
NM_017534.6(MYH2):c.924G>A (p.Thr308=)
|
|
|
|
NM_017534.6(MYH2):c.92C>T (p.Pro31Leu)
|
|
|
|
NM_017534.6(MYH2):c.930A>G (p.Pro310=)
|
rs2142314920
|
|
|
NM_017534.6(MYH2):c.946G>A (p.Val316Ile)
|
|
|
|
NM_017534.6(MYH2):c.950G>T (p.Ser317Ile)
|
rs1567735281
|
|
|
NM_017534.6(MYH2):c.956G>A (p.Gly319Glu)
|
rs2142314883
|
|
|
NM_017534.6(MYH2):c.957G>A (p.Gly319=)
|
rs770934297
|
|
|
NM_017534.6(MYH2):c.974G>C (p.Ser325Thr)
|
|
|
|
NM_017534.6(MYH2):c.978C>A (p.Ile326=)
|
rs1001051198
|
|
|
NM_017534.6(MYH2):c.988G>A (p.Glu330Lys)
|
|
|
|
NM_017534.6(MYH2):c.994C>T (p.Leu332=)
|
rs907817512
|
|
|
NM_017534.6(MYH2):c.998T>C (p.Met333Thr)
|
|
|
|
NM_020451.2(SELENON):c.-55_183del
|
rs1572226620
|
|
|
NM_020451.2(SELENON):c.-64_36del
|
rs1572226578
|
|
|
NM_020451.3(SELENON):c.*1107T>C
|
rs2048015293
|
|
|
NM_020451.3(SELENON):c.-10_135del (p.Met1fs)
|
|
|
|
NM_020451.3(SELENON):c.-11_81del (p.Met1fs)
|
rs1557813850
|
|
|
NM_020451.3(SELENON):c.-21_183+6del
|
|
|
|
NM_020451.3(SELENON):c.-26_12del (p.Met1fs)
|
rs2047846279
|
|
|
NM_020451.3(SELENON):c.-30_64del (p.Met1fs)
|
|
|
|
NM_020451.3(SELENON):c.1004A>G (p.Asn335Ser)
|
|
|
|
NM_020451.3(SELENON):c.1010+18G>A
|
|
|
|
NM_020451.3(SELENON):c.1010+7G>A
|
|
|
|
NM_020451.3(SELENON):c.1010+8C>T
|
rs201711169
|
|
|
NM_020451.3(SELENON):c.1011-10G>A
|
|
|
|
NM_020451.3(SELENON):c.1011-1G>C
|
rs1333001112
|
|
|
NM_020451.3(SELENON):c.102C>T (p.Leu34=)
|
|
|
|
NM_020451.3(SELENON):c.1042G>T (p.Gly348Trp)
|
rs374499583
|
|
|
NM_020451.3(SELENON):c.1049G>C (p.Ser350Thr)
|
rs777864718
|
|
|
NM_020451.3(SELENON):c.1059C>T (p.Ser353=)
|
|
|
|
NM_020451.3(SELENON):c.1072G>A (p.Asp358Asn)
|
rs2047959221
|
|
|
NM_020451.3(SELENON):c.1078G>T (p.Gly360Cys)
|
rs761873230
|
|
|
NM_020451.3(SELENON):c.1086dup (p.Pro363fs)
|
rs2124450830
|
|
|
NM_020451.3(SELENON):c.108C>T (p.Ala36=)
|
|
|
|
NM_020451.3(SELENON):c.1092+6C>G
|
rs148071754
|
|
|
NM_020451.3(SELENON):c.1092+6C>T
|
rs148071754
|
|
|
NM_020451.3(SELENON):c.1092+8C>T
|
|
|
|
NM_020451.3(SELENON):c.1093-11C>T
|
|
|
|
NM_020451.3(SELENON):c.1093-18C>T
|
|
|
|
NM_020451.3(SELENON):c.1094T>C (p.Met365Thr)
|
rs973033318
|
|
|
NM_020451.3(SELENON):c.109C>T (p.Leu37=)
|
|
|
|
NM_020451.3(SELENON):c.10G>T (p.Ala4Ser)
|
rs1371866855
|
|
|
NM_020451.3(SELENON):c.1108A>T (p.Thr370Ser)
|
|
|
|
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp)
|
rs745886248
|
|
|
NM_020451.3(SELENON):c.1118C>G (p.Ser373Cys)
|
|
|
|
NM_020451.3(SELENON):c.1122G>A (p.Val374=)
|
|
|
|
NM_020451.3(SELENON):c.1123C>A (p.Pro375Thr)
|
rs1379278116
|
|
|
NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del)
|
rs770747626
|
|
|
NM_020451.3(SELENON):c.1159G>A (p.Asp387Asn)
|
|
|
|
NM_020451.3(SELENON):c.1170G>T (p.Leu390=)
|
rs2124451191
|
|
|
NM_020451.3(SELENON):c.1175C>T (p.Ser392Leu)
|
rs758620314
|
|
|
NM_020451.3(SELENON):c.1179G>A (p.Gly393=)
|
|
|
|
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter)
|
rs747284477
|
|
|
NM_020451.3(SELENON):c.1189C>T (p.Gln397Ter)
|
|
|
|
NM_020451.3(SELENON):c.1195G>C (p.Val399Leu)
|
rs1337260819
|
|
|
NM_020451.3(SELENON):c.1197G>A (p.Val399=)
|
|
|
|
NM_020451.3(SELENON):c.1201GAG[1] (p.Glu402del)
|
rs1197764943
|
|
|
NM_020451.3(SELENON):c.1207A>G (p.Ile403Val)
|
|
|
|
NM_020451.3(SELENON):c.1227G>A (p.Leu409=)
|
|
|
|
NM_020451.3(SELENON):c.123C>A (p.Ala41=)
|
rs1251781281
|
|
|
NM_020451.3(SELENON):c.123C>T (p.Ala41=)
|
rs1251781281
|
|
|
NM_020451.3(SELENON):c.125_136dup (p.Ala42_Ala45dup)
|
rs999744359
|
|
|
NM_020451.3(SELENON):c.1269C>T (p.Tyr423=)
|
|
|
|
NM_020451.3(SELENON):c.126T>A (p.Ala42=)
|
|
|
|
NM_020451.3(SELENON):c.126_134dup (p.Ala43_Ala45dup)
|
rs1161050482
|
|
|
NM_020451.3(SELENON):c.1270C>A (p.Pro424Thr)
|
|
|
|
NM_020451.3(SELENON):c.1281+11G>A
|
|
|
|
NM_020451.3(SELENON):c.1281+7C>T
|
|
|
|
NM_020451.3(SELENON):c.1282-12G>A
|
rs2124452801
|
|
|
NM_020451.3(SELENON):c.1282-1G>T
|
|
|
|
NM_020451.3(SELENON):c.1282-3C>G
|
rs1040390429
|
|
|
NM_020451.3(SELENON):c.1282-3C>T
|
|
|
|
NM_020451.3(SELENON):c.1296G>A (p.Pro432=)
|
|
|
|
NM_020451.3(SELENON):c.1297T>G (p.Phe433Val)
|
|
|
|
NM_020451.3(SELENON):c.1299C>T (p.Phe433=)
|
|
|
|
NM_020451.3(SELENON):c.1301C>G (p.Thr434Ser)
|
|
|
|
NM_020451.3(SELENON):c.1314_1317del (p.Asp438fs)
|
rs2124452873
|
|
|
NM_020451.3(SELENON):c.1332_1334del (p.Asn444del)
|
rs1553120691
|
|
|
NM_020451.3(SELENON):c.1338G>A (p.Leu446=)
|
|
|
|
NM_020451.3(SELENON):c.1341G>A (p.Val447=)
|
|
|
|
NM_020451.3(SELENON):c.1351C>G (p.Leu451Val)
|
rs200431320
|
|
|
NM_020451.3(SELENON):c.1351C>T (p.Leu451=)
|
|
|
|
NM_020451.3(SELENON):c.1355T>C (p.Leu452Pro)
|
|
|
|
NM_020451.3(SELENON):c.1362G>A (p.Gly454=)
|
rs1465837515
|
|
|
NM_020451.3(SELENON):c.1367T>G (p.Leu456Arg)
|
rs2047977658
|
|
|
NM_020451.3(SELENON):c.1369G>T (p.Asp457Tyr)
|
rs2047977673
|
|
|
NM_020451.3(SELENON):c.136G>A (p.Val46Ile)
|
rs2124436757
|
|
|
NM_020451.3(SELENON):c.1377G>C (p.Gln459His)
|
|
|
|
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe)
|
rs767530943
|
|
|
NM_020451.3(SELENON):c.1386A>G
|
rs1557433091
|
|
|
NM_020451.3(SELENON):c.1387+14C>G
|
|
|
|
NM_020451.3(SELENON):c.1388-12C>T
|
|
|
|
NM_020451.3(SELENON):c.1388-6G>C
|
|
|
|
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)
|
rs797044621
|
|
|
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln)
|
rs779162837
|
|
|
NM_020451.3(SELENON):c.1415T>C (p.Val472Ala)
|
rs2124454571
|
|
|
NM_020451.3(SELENON):c.1421_1422insC (p.Glu474fs)
|
|
|
|
NM_020451.3(SELENON):c.1427C>G (p.Ser476Trp)
|
rs368377980
|
|
|
NM_020451.3(SELENON):c.142del (p.Val48fs)
|
|
|
|
NM_020451.3(SELENON):c.1465_1466del (p.Thr489fs)
|
rs2047988020
|
|
|
NM_020451.3(SELENON):c.1477G>C (p.Val493Leu)
|
rs1465319326
|
|
|
NM_020451.3(SELENON):c.1500+16G>A
|
|
|
|
NM_020451.3(SELENON):c.1500+20del
|
|
|
|
NM_020451.3(SELENON):c.1504A>T (p.Asn502Tyr)
|
|
|
|
NM_020451.3(SELENON):c.1510_1512del (p.Glu504del)
|
rs1247672340
|
|
|
NM_020451.3(SELENON):c.1524C>A (p.His508Gln)
|
rs1198379415
|
|
|
NM_020451.3(SELENON):c.1524C>G (p.His508Gln)
|
|
|
|
NM_020451.3(SELENON):c.152G>A (p.Arg51His)
|
|
|
|
NM_020451.3(SELENON):c.1534G>A (p.Ala512Thr)
|
rs1358541711
|
|
|
NM_020451.3(SELENON):c.1549_1551del (p.Glu517del)
|
|
|
|
NM_020451.3(SELENON):c.156C>T (p.His52=)
|
|
|
|
NM_020451.3(SELENON):c.1572GAT[2] (p.Met526del)
|
rs2047990479
|
|
|
NM_020451.3(SELENON):c.1589C>T (p.Pro530Leu)
|
rs1209522007
|
|
|
NM_020451.3(SELENON):c.1602+10C>G
|
|
|
|
NM_020451.3(SELENON):c.1602+16C>T
|
|
|
|
NM_020451.3(SELENON):c.1602+17A>G
|
|
|
|
NM_020451.3(SELENON):c.1602+18G>A
|
|
|
|
NM_020451.3(SELENON):c.1602+1G>A
|
rs751927853
|
|
|
NM_020451.3(SELENON):c.1602+4G>A
|
rs2047990840
|
|
|
NM_020451.3(SELENON):c.1603-15C>G
|
|
|
|
NM_020451.3(SELENON):c.1603-15C>T
|
|
|
|
NM_020451.3(SELENON):c.1603-1G>C
|
rs2124456702
|
|
|
NM_020451.3(SELENON):c.1603-9T>C
|
rs376978932
|
|
|
NM_020451.3(SELENON):c.1605C>G (p.Val535=)
|
|
|
|
NM_020451.3(SELENON):c.160G>T (p.Glu54Ter)
|
rs2047850525
|
|
|
NM_020451.3(SELENON):c.1650G>C (p.Lys550Asn)
|
|
|
|
NM_020451.3(SELENON):c.1651C>G (p.Pro551Ala)
|
rs2124456811
|
|
|
NM_020451.3(SELENON):c.1653C>T (p.Pro551=)
|
|
|
|
NM_020451.3(SELENON):c.1656G>A (p.Glu552=)
|
|
|
|
NM_020451.3(SELENON):c.1662C>G (p.Ile554Met)
|
|
|
|
NM_020451.3(SELENON):c.1662C>T (p.Ile554=)
|
|
|
|
NM_020451.3(SELENON):c.166C>T (p.Gln56Ter)
|
rs1557814050
|
|
|
NM_020451.3(SELENON):c.1674C>T (p.Leu558=)
|
|
|
|
NM_020451.3(SELENON):c.167A>C (p.Gln56Pro)
|
|
|
|
NM_020451.3(SELENON):c.1691C>T (p.Thr564Ile)
|
|
|
|
NM_020451.3(SELENON):c.16C>T (p.Pro6Ser)
|
|
|
|
NM_020451.3(SELENON):c.1703C>T (p.Pro568Leu)
|
rs367859333
|
|
|
NM_020451.3(SELENON):c.1710G>A (p.Thr570=)
|
rs371398538
|
|
|
NM_020451.3(SELENON):c.1710G>C (p.Thr570=)
|
rs371398538
|
|
|
NM_020451.3(SELENON):c.1730T>C (p.Leu577Pro)
|
|
|
|
NM_020451.3(SELENON):c.1744C>G (p.Arg582Gly)
|
rs373530866
|
|
|
NM_020451.3(SELENON):c.1747C>T (p.Arg583Cys)
|
rs758590388
|
|
|
NM_020451.3(SELENON):c.1759C>G (p.Leu587Val)
|
|
|
|
NM_020451.3(SELENON):c.1761C>T (p.Leu587=)
|
|
|
|
NM_020451.3(SELENON):c.1764C>T (p.Leu588=)
|
|
|
|
NM_020451.3(SELENON):c.180del (p.Gln61fs)
|
rs1557814066
|
|
|
NM_020451.3(SELENON):c.183+3C>T
|
rs2047850845
|
|
|
NM_020451.3(SELENON):c.184-10T>C
|
rs2124437547
|
|
|
NM_020451.3(SELENON):c.184-12C>T
|
|
|
|
NM_020451.3(SELENON):c.184-16C>G
|
|
|
|
NM_020451.3(SELENON):c.184-18G>A
|
|
|
|
NM_020451.3(SELENON):c.184-3C>G
|
|
|
|
NM_020451.3(SELENON):c.184-3C>T
|
rs1035976243
|
|
|
NM_020451.3(SELENON):c.184-6A>C
|
rs2124437550
|
|
|
NM_020451.3(SELENON):c.188T>G (p.Leu63Arg)
|
rs1557814336
|
|
|
NM_020451.3(SELENON):c.18G>A (p.Pro6=)
|
rs1572226803
|
|
|
NM_020451.3(SELENON):c.18_46del (p.Gly7fs)
|
rs2124436429
|
|
|
NM_020451.3(SELENON):c.19_47dup (p.Ala18fs)
|
rs2047848157
|
|
|
NM_020451.3(SELENON):c.216C>G (p.Gly72=)
|
rs747665368
|
|
|
NM_020451.3(SELENON):c.227T>C (p.Phe76Ser)
|
rs2124437633
|
|
|
NM_020451.3(SELENON):c.246C>T (p.Asp82=)
|
|
|
|
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs)
|
rs1553198611
|
|
|
NM_020451.3(SELENON):c.257A>G (p.Tyr86Cys)
|
rs1019702401
|
|
|
NM_020451.3(SELENON):c.270G>A (p.Glu90=)
|
rs1442343296
|
|
|
NM_020451.3(SELENON):c.271G>A (p.Glu91Lys)
|
|
|
|
NM_020451.3(SELENON):c.276C>A (p.Phe92Leu)
|
rs756673739
|
|
|
NM_020451.3(SELENON):c.276C>T (p.Phe92=)
|
|
|
|
NM_020451.3(SELENON):c.28G>A (p.Gly10Arg)
|
|
|
|
NM_020451.3(SELENON):c.296T>A (p.Leu99Gln)
|
|
|
|
NM_020451.3(SELENON):c.2T>C (p.Met1Thr)
|
rs1174570887
|
|
|
NM_020451.3(SELENON):c.2T>G (p.Met1Arg)
|
rs1174570887
|
|
|
NM_020451.3(SELENON):c.301+5C>T
|
|
|
|
NM_020451.3(SELENON):c.302-16T>G
|
|
|
|
NM_020451.3(SELENON):c.302-18T>C
|
rs2124438895
|
|
|
NM_020451.3(SELENON):c.302-1G>C
|
|
|
|
NM_020451.3(SELENON):c.302-2_302-1del
|
|
|
|
NM_020451.3(SELENON):c.302-3C>G
|
rs1327559756
|
|
|
NM_020451.3(SELENON):c.30G>C (p.Gly10=)
|
|
|
|
NM_020451.3(SELENON):c.311C>T (p.Ser104Phe)
|
rs2124438957
|
|
|
NM_020451.3(SELENON):c.339C>T (p.Cys113=)
|
|
|
|
NM_020451.3(SELENON):c.33G>A (p.Pro11=)
|
rs2047848510
|
|
|
NM_020451.3(SELENON):c.367C>T (p.Pro123Ser)
|
|
|
|
NM_020451.3(SELENON):c.36C>T (p.Pro12=)
|
|
|
|
NM_020451.3(SELENON):c.377A>G (p.Asn126Ser)
|
|
|
|
NM_020451.3(SELENON):c.378T>C (p.Asn126=)
|
rs2047865928
|
|
|
NM_020451.3(SELENON):c.390C>T (p.Cys130=)
|
|
|
|
NM_020451.3(SELENON):c.39C>T (p.Ser13=)
|
|
|
|
NM_020451.3(SELENON):c.402_403+2del
|
rs773670891
|
|
|
NM_020451.3(SELENON):c.403+14C>T
|
|
|
|
NM_020451.3(SELENON):c.403+15dup
|
|
|
|
NM_020451.3(SELENON):c.404-19C>T
|
|
|
|
NM_020451.3(SELENON):c.404-1G>A
|
rs1005071009
|
|
|
NM_020451.3(SELENON):c.404-7C>A
|
|
|
|
NM_020451.3(SELENON):c.410C>T (p.Thr137Ile)
|
rs2047894839
|
|
|
NM_020451.3(SELENON):c.427GAG[5] (p.Glu146dup)
|
rs141295085
|
|
|
NM_020451.3(SELENON):c.44_72dup (p.Arg25fs)
|
rs797044620
|
|
|
NM_020451.3(SELENON):c.455G>T (p.Ser152Ile)
|
rs762382665
|
|
|
NM_020451.3(SELENON):c.456C>G (p.Ser152Arg)
|
rs202188924
|
|
|
NM_020451.3(SELENON):c.464C>T (p.Thr155Met)
|
|
|
|
NM_020451.3(SELENON):c.472A>G (p.Ile158Val)
|
rs2047895777
|
|
|
NM_020451.3(SELENON):c.473T>C (p.Ile158Thr)
|
|
|
|
NM_020451.3(SELENON):c.51C>G (p.Ala17=)
|
|
|
|
NM_020451.3(SELENON):c.538-1G>A
|
rs2047928865
|
|
|
NM_020451.3(SELENON):c.538-1G>C
|
rs2047928865
|
|
|
NM_020451.3(SELENON):c.538-3C>T
|
rs1572232433
|
|
|
NM_020451.3(SELENON):c.538-8C>A
|
|
|
|
NM_020451.3(SELENON):c.538-8C>T
|
rs538835367
|
|
|
NM_020451.3(SELENON):c.538G>A (p.Val180Ile)
|
rs751053087
|
|
|
NM_020451.3(SELENON):c.542C>T (p.Ser181Phe)
|
|
|
|
NM_020451.3(SELENON):c.544C>T (p.Arg182Cys)
|
|
|
|
NM_020451.3(SELENON):c.549C>T (p.Leu183=)
|
|
|
|
NM_020451.3(SELENON):c.54G>T (p.Ala18=)
|
|
|
|
NM_020451.3(SELENON):c.550G>A (p.Ala184Thr)
|
rs199742668
|
|
|
NM_020451.3(SELENON):c.553C>T (p.Leu185=)
|
|
|
|
NM_020451.3(SELENON):c.559G>A (p.Gly187Ser)
|
|
|
|
NM_020451.3(SELENON):c.572G>A (p.Trp191Ter)
|
rs2047929645
|
|
|
NM_020451.3(SELENON):c.577G>A (p.Ala193Thr)
|
|
|
|
NM_020451.3(SELENON):c.580G>A (p.Ala194Thr)
|
rs560203077
|
|
|
NM_020451.3(SELENON):c.580G>C (p.Ala194Pro)
|
rs560203077
|
|
|
NM_020451.3(SELENON):c.58C>T (p.Pro20Ser)
|
rs1329648911
|
|
|
NM_020451.3(SELENON):c.59C>T (p.Pro20Leu)
|
|
|
|
NM_020451.3(SELENON):c.608C>A (p.Thr203Asn)
|
|
|
|
NM_020451.3(SELENON):c.627C>T (p.Phe209=)
|
|
|
|
NM_020451.3(SELENON):c.633C>A (p.Pro211=)
|
rs1386434021
|
|
|
NM_020451.3(SELENON):c.633C>T (p.Pro211=)
|
|
|
|
NM_020451.3(SELENON):c.636G>A (p.Pro212=)
|
|
|
|
NM_020451.3(SELENON):c.643del (p.Gln215fs)
|
rs2047931126
|
|
|
NM_020451.3(SELENON):c.651G>A (p.Leu217=)
|
|
|
|
NM_020451.3(SELENON):c.65C>T (p.Ala22Val)
|
rs2047849177
|
|
|
NM_020451.3(SELENON):c.660C>A (p.Pro220=)
|
rs2124447361
|
|
|
NM_020451.3(SELENON):c.665G>A (p.Trp222Ter)
|
rs1553120047
|
|
|
NM_020451.3(SELENON):c.668T>A (p.Ile223Asn)
|
rs1299656382
|
|
|
NM_020451.3(SELENON):c.672C>A (p.Ile224=)
|
|
|
|
NM_020451.3(SELENON):c.683_689dup (p.Met230fs)
|
rs1553120055
|
|
|
NM_020451.3(SELENON):c.686G>C (p.Ser229Thr)
|
rs56169842
|
|
|
NM_020451.3(SELENON):c.697G>A (p.Gly233Ser)
|
rs2124447513
|
|
|
NM_020451.3(SELENON):c.700_701insC (p.Tyr234fs)
|
rs2124447526
|
|
|
NM_020451.3(SELENON):c.703C>T (p.Leu235=)
|
|
|
|
NM_020451.3(SELENON):c.713dup (p.Asn238fs)
|
rs368104077
|
|
|
NM_020451.3(SELENON):c.726A>G (p.Pro242=)
|
|
|
|
NM_020451.3(SELENON):c.728C>T (p.Pro243Leu)
|
rs745856385
|
|
|
NM_020451.3(SELENON):c.737A>G (p.Lys246Arg)
|
rs2047932738
|
|
|
NM_020451.3(SELENON):c.744G>A (p.Lys248=)
|
|
|
|
NM_020451.3(SELENON):c.746A>T (p.Glu249Val)
|
rs2047932867
|
|
|
NM_020451.3(SELENON):c.746_747+36del
|
rs2047932848
|
|
|
NM_020451.3(SELENON):c.747+16G>C
|
|
|
|
NM_020451.3(SELENON):c.747+19C>T
|
|
|
|
NM_020451.3(SELENON):c.748-11G>A
|
|
|
|
NM_020451.3(SELENON):c.748-12C>T
|
|
|
|
NM_020451.3(SELENON):c.748-12del
|
rs2124447905
|
|
|
NM_020451.3(SELENON):c.748-2_760del
|
rs758934983
|
|
|
NM_020451.3(SELENON):c.748-8G>A
|
|
|
|
NM_020451.3(SELENON):c.760C>G (p.Arg254Gly)
|
rs374195814
|
|
|
NM_020451.3(SELENON):c.760C>T (p.Arg254Trp)
|
rs374195814
|
|
|
NM_020451.3(SELENON):c.795G>A (p.Val265=)
|
|
|
|
NM_020451.3(SELENON):c.7C>G (p.Arg3Gly)
|
rs866566089
|
|
|
NM_020451.3(SELENON):c.814C>G (p.Gln272Glu)
|
rs2047935649
|
|
|
NM_020451.3(SELENON):c.821C>G (p.Ala274Gly)
|
|
|
|
NM_020451.3(SELENON):c.828C>T (p.Ala276=)
|
rs1337830180
|
|
|
NM_020451.3(SELENON):c.82G>T (p.Ala28Ser)
|
rs1286430947
|
|
|
NM_020451.3(SELENON):c.863_864del (p.Val288fs)
|
rs1184282261
|
|
|
NM_020451.3(SELENON):c.86G>A (p.Arg29His)
|
rs1349760554
|
|
|
NM_020451.3(SELENON):c.872+13C>T
|
|
|
|
NM_020451.3(SELENON):c.872+15C>A
|
|
|
|
NM_020451.3(SELENON):c.872+17G>T
|
rs754933685
|
|
|
NM_020451.3(SELENON):c.873-2A>G
|
rs1176143542
|
|
|
NM_020451.3(SELENON):c.875T>A (p.Ile292Asn)
|
rs2047941221
|
|
|
NM_020451.3(SELENON):c.882C>G (p.Ala294=)
|
rs201631363
|
|
|
NM_020451.3(SELENON):c.890_981dup (p.Asp328fs)
|
|
|
|
NM_020451.3(SELENON):c.897T>C (p.Ser299=)
|
rs1243423026
|
|
|
NM_020451.3(SELENON):c.8_12dup (p.Arg5fs)
|
rs1572226744
|
|
|
NM_020451.3(SELENON):c.8_9insTGCCGGGCCG (p.Arg5fs)
|
rs2124436380
|
|
|
NM_020451.3(SELENON):c.906C>T (p.Pro302=)
|
|
|
|
NM_020451.3(SELENON):c.921G>A (p.Trp307Ter)
|
rs1553120202
|
|
|
NM_020451.3(SELENON):c.943G>C (p.Gly315Arg)
|
rs121908188
|
|
|
NM_020451.3(SELENON):c.94G>C (p.Ala32Pro)
|
|
|
|
NM_020451.3(SELENON):c.957C>G (p.Leu319=)
|
rs377537585
|
|
|
NM_020451.3(SELENON):c.957C>T (p.Leu319=)
|
rs377537585
|
|
|
NM_020451.3(SELENON):c.963dup (p.Asp322fs)
|
|
|
|
NM_020451.3(SELENON):c.975C>T (p.His325=)
|
|
|
|
NM_020451.3(SELENON):c.977T>G (p.Val326Gly)
|
rs2047942764
|
|
|
NM_020451.3(SELENON):c.997_1000del (p.Val333fs)
|
rs886041686
|
|
|
NM_020451.3(SELENON):c.99G>C (p.Leu33=)
|
rs1319643846
|
|
|
NM_020451.3(SELENON):c.99G>T (p.Leu33=)
|
|
|
|
NM_020451.3(SELENON):c.9_33del (p.Ala4fs)
|
rs886041619
|
|
|
NM_032790.3(ORAI1):c.308+2T>C
|
rs1892796192
|
|
|
NM_032790.3(ORAI1):c.309-16G>T
|
|
|
|
NM_032790.4(ORAI1):c.101G>T (p.Ser34Ile)
|
|
|
|
NM_032790.4(ORAI1):c.102C>T (p.Ser34=)
|
|
|
|
NM_032790.4(ORAI1):c.103G>A (p.Gly35Arg)
|
|
|
|
NM_032790.4(ORAI1):c.104G>A (p.Gly35Glu)
|
|
|
|
NM_032790.4(ORAI1):c.109G>A (p.Gly37Arg)
|
rs2136841564
|
|
|
NM_032790.4(ORAI1):c.113_121delAGCCCCCGG (p.Glu38_Pro40del)
|
rs781971569
|
|
|
NM_032790.4(ORAI1):c.114G>T (p.Glu38Asp)
|
rs1226204743
|
|
|
NM_032790.4(ORAI1):c.115C>G (p.Pro39Ala)
|
rs782531427
|
|
|
NM_032790.4(ORAI1):c.116C>T (p.Pro39Leu)
|
|
|
|
NM_032790.4(ORAI1):c.120G>T (p.Pro40=)
|
|
|
|
NM_032790.4(ORAI1):c.122_142dup (p.Pro47_Ser48insTrpAlaProProProProPro)
|
rs2089908763
|
|
|
NM_032790.4(ORAI1):c.124G>A (p.Ala42Thr)
|
rs782427834
|
|
|
NM_032790.4(ORAI1):c.124G>T (p.Ala42Ser)
|
rs782427834
|
|
|
NM_032790.4(ORAI1):c.125C>G (p.Ala42Gly)
|
|
|
|
NM_032790.4(ORAI1):c.125C>T (p.Ala42Val)
|
rs1212609439
|
|
|
NM_032790.4(ORAI1):c.128_131dup (p.Pro45Alafs)
|
rs141919534
|
|
|
NM_032790.4(ORAI1):c.131C>T (p.Pro44Leu)
|
|
|
|
NM_032790.4(ORAI1):c.131CGC[2][1] (p.Pro46Hisfs)
|
rs782510098
|
|
|
NM_032790.4(ORAI1):c.131CGC[3][1] (p.Pro47Hisfs)
|
|
|
|
NM_032790.4(ORAI1):c.131_132insGCCGCCGCGGGGACGGGGAGCCCCCGGGGGC (p.Pro47fs)
|
|
|
|
NM_032790.4(ORAI1):c.131_141delCACCGCCGCCG (p.Pro44Leufs)
|
|
|
|
NM_032790.4(ORAI1):c.132A>C (p.Pro44=)
|
rs554617167
|
|
|
NM_032790.4(ORAI1):c.132_133delAC (p.Pro45Alafs)
|
|
|
|
NM_032790.4(ORAI1):c.132_135delACCGinsGCCGT (p.Pro46Serfs)
|
rs1892790744
|
|
|
NM_032790.4(ORAI1):c.132_143delACCGCCGCCGTC (p.Pro45_Ser48del)
|
rs1566465887
|
|
|
NM_032790.4(ORAI1):c.132delAinsGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCCCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC (p.Pro46Glnfs)
|
rs1892790617
|
|
|
NM_032790.4(ORAI1):c.133C>G (p.Pro45Ala)
|
|
|
|
NM_032790.4(ORAI1):c.133_135CCG[4] (p.Pro47_Ser48insPro)
|
|
|
|
NM_032790.4(ORAI1):c.135G>A (p.Pro45=)
|
|
|
|
NM_032790.4(ORAI1):c.135G>C (p.Pro45=)
|
rs1227828097
|
|
|
NM_032790.4(ORAI1):c.135G>T (p.Pro45=)
|
rs1227828097
|
|
|
NM_032790.4(ORAI1):c.136C>T (p.Pro46Ser)
|
|
|
|
NM_032790.4(ORAI1):c.138G>T (p.Pro46=)
|
rs1555322555
|
|
|
NM_032790.4(ORAI1):c.140C>A (p.Pro47Gln)
|
|
|
|
NM_032790.4(ORAI1):c.140C>G (p.Pro47Arg)
|
rs781855511
|
|
|
NM_032790.4(ORAI1):c.141G>A (p.Pro47=)
|
rs1555322557
|
|
|
NM_032790.4(ORAI1):c.143C>T (p.Ser48Phe)
|
rs2136841806
|
|
|
NM_032790.4(ORAI1):c.150C>T (p.Val50=)
|
|
|
|
NM_032790.4(ORAI1):c.156C>T (p.Tyr52=)
|
|
|
|
NM_032790.4(ORAI1):c.157C>T (p.Pro53Ser)
|
|
|
|
NM_032790.4(ORAI1):c.159G>C (p.Pro53=)
|
|
|
|
NM_032790.4(ORAI1):c.161A>G (p.Asp54Gly)
|
|
|
|
NM_032790.4(ORAI1):c.164G>A (p.Trp55Ter)
|
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|
|
NM_032790.4(ORAI1):c.165G>T (p.Trp55Cys)
|
|
|
|
NM_032790.4(ORAI1):c.168C>G (p.Ile56Met)
|
rs1892792431
|
|
|
NM_032790.4(ORAI1):c.169G>A (p.Gly57Ser)
|
rs1412190366
|
|
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NM_032790.4(ORAI1):c.16_20GCCCC[3] (p.Pro9Argfs)
|
|
|
|
NM_032790.4(ORAI1):c.170G>A (p.Gly57Asp)
|
rs370688474
|
|
|
NM_032790.4(ORAI1):c.171C>G (p.Gly57=)
|
|
|
|
NM_032790.4(ORAI1):c.173A>G (p.Gln58Arg)
|
|
|
|
NM_032790.4(ORAI1):c.173_174AG[1] (p.Ser59Leufs)
|
|
|
|
NM_032790.4(ORAI1):c.17C>T (p.Ala6Val)
|
rs2136841307
|
|
|
NM_032790.4(ORAI1):c.17_18delCCinsTT (p.Ala6Val)
|
rs2136841311
|
|
|
NM_032790.4(ORAI1):c.180C>T (p.Tyr60=)
|
|
|
|
NM_032790.4(ORAI1):c.183C>A (p.Ser61=)
|
|
|
|
NM_032790.4(ORAI1):c.187G>A (p.Val63Met)
|
|
|
|
NM_032790.4(ORAI1):c.18C>T (p.Ala6=)
|
|
|
|
NM_032790.4(ORAI1):c.194G>A (p.Ser65Asn)
|
rs782424304
|
|
|
NM_032790.4(ORAI1):c.194G>T (p.Ser65Ile)
|
rs782424304
|
|
|
NM_032790.4(ORAI1):c.195C>T (p.Ser65=)
|
|
|
|
NM_032790.4(ORAI1):c.200_210delACGAGCACTCCinsTG (p.Asn67_Ser70delinsMet)
|
|
|
|
NM_032790.4(ORAI1):c.201C>T (p.Asn67=)
|
|
|
|
NM_032790.4(ORAI1):c.208_209del (p.Ser70fs)
|
|
|
|
NM_032790.4(ORAI1):c.210C>G (p.Ser70=)
|
rs2136842002
|
|
|
NM_032790.4(ORAI1):c.210C>T (p.Ser70=)
|
|
|
|
NM_032790.4(ORAI1):c.216G>A (p.Gln72=)
|
rs1892793910
|
|
|
NM_032790.4(ORAI1):c.21G>A (p.Pro7=)
|
|
|
|
NM_032790.4(ORAI1):c.225C>G (p.Ser75=)
|
|
|
|
NM_032790.4(ORAI1):c.22C>T (p.Pro8Ser)
|
rs1356450700
|
|
|
NM_032790.4(ORAI1):c.246C>T (p.Ser82=)
|
|
|
|
NM_032790.4(ORAI1):c.249C>T (p.Arg83=)
|
|
|
|
NM_032790.4(ORAI1):c.255G>C (p.Lys85Asn)
|
|
|
|
NM_032790.4(ORAI1):c.259A>G (p.Lys87Glu)
|
|
|
|
NM_032790.4(ORAI1):c.264C>G (p.Ala88=)
|
|
|
|
NM_032790.4(ORAI1):c.264C>T (p.Ala88=)
|
|
|
|
NM_032790.4(ORAI1):c.265T>G (p.Ser89Ala)
|
|
|
|
NM_032790.4(ORAI1):c.266C>G (p.Ser89Cys)
|
rs1892795100
|
|
|
NM_032790.4(ORAI1):c.271C>A (p.Arg91=)
|
|
|
|
NM_032790.4(ORAI1):c.275C>T (p.Thr92Ile)
|
|
|
|
NM_032790.4(ORAI1):c.282T>C (p.Ala94=)
|
|
|
|
NM_032790.4(ORAI1):c.287T>C (p.Leu96Pro)
|
|
|
|
NM_032790.4(ORAI1):c.294C>T (p.Gly98=)
|
|
|
|
NM_032790.4(ORAI1):c.303+13C>T
|
|
|
|
NM_032790.4(ORAI1):c.303+17C>T
|
|
|
|
NM_032790.4(ORAI1):c.306G>A (p.Val102=)
|
|
|
|
NM_032790.4(ORAI1):c.319G>A (p.Val107Met)
|
rs2136852410
|
|
|
NM_032790.4(ORAI1):c.31C>T (p.Arg11Cys)
|
rs1892784662
|
|
|
NM_032790.4(ORAI1):c.32G>T (p.Arg11Leu)
|
|
|
|
NM_032790.4(ORAI1):c.331G>A (p.Ala111Thr)
|
rs529121117
|
|
|
NM_032790.4(ORAI1):c.333T>C (p.Ala111=)
|
|
|
|
NM_032790.4(ORAI1):c.336C>T (p.Asp112=)
|
rs2136852459
|
|
|
NM_032790.4(ORAI1):c.343T>A (p.Tyr115Asn)
|
|
|
|
NM_032790.4(ORAI1):c.34A>C (p.Ser12Arg)
|
rs1349225419
|
|
|
NM_032790.4(ORAI1):c.350C>G (p.Pro117Arg)
|
rs782088694
|
|
|
NM_032790.4(ORAI1):c.350C>T (p.Pro117Leu)
|
|
|
|
NM_032790.4(ORAI1):c.351G>A (p.Pro117=)
|
|
|
|
NM_032790.4(ORAI1):c.369C>T (p.Phe123=)
|
|
|
|
NM_032790.4(ORAI1):c.376T>C (p.Cys126Arg)
|
rs1893050626
|
|
|
NM_032790.4(ORAI1):c.377G>A (p.Cys126Tyr)
|
rs2136852559
|
|
|
NM_032790.4(ORAI1):c.37A>C (p.Ser13Arg)
|
|
|
|
NM_032790.4(ORAI1):c.382A>C (p.Thr128Pro)
|
|
|
|
NM_032790.4(ORAI1):c.384A>C (p.Thr128=)
|
rs1555324082
|
|
|
NM_032790.4(ORAI1):c.384A>G (p.Thr128=)
|
|
|
|
NM_032790.4(ORAI1):c.391G>A (p.Val131Met)
|
|
|
|
NM_032790.4(ORAI1):c.394G>A (p.Ala132Thr)
|
rs2136852590
|
|
|
NM_032790.4(ORAI1):c.399G>A (p.Val133=)
|
|
|
|
NM_032790.4(ORAI1):c.408T>C (p.Phe136=)
|
|
|
|
NM_032790.4(ORAI1):c.40C>G (p.Pro14Ala)
|
rs1892784896
|
|
|
NM_032790.4(ORAI1):c.412C>T (p.Leu138Phe)
|
rs786204797
|
|
|
NM_032790.4(ORAI1):c.426C>G (p.Thr142=)
|
|
|
|
NM_032790.4(ORAI1):c.43G>A (p.Glu15Lys)
|
rs1321846731
|
|
|
NM_032790.4(ORAI1):c.440A>T (p.Asn147Ile)
|
|
|
|
NM_032790.4(ORAI1):c.444C>T (p.Ile148=)
|
rs782566002
|
|
|
NM_032790.4(ORAI1):c.445G>A (p.Glu149Lys)
|
|
|
|
NM_032790.4(ORAI1):c.456C>T (p.Ser152=)
|
|
|
|
NM_032790.4(ORAI1):c.460G>A (p.Val154Met)
|
|
|
|
NM_032790.4(ORAI1):c.466A>G (p.Asn156Asp)
|
|
|
|
NM_032790.4(ORAI1):c.467A>G (p.Asn156Ser)
|
rs1893052177
|
|
|
NM_032790.4(ORAI1):c.46C>A (p.Leu16Ile)
|
|
|
|
NM_032790.4(ORAI1):c.46C>T (p.Leu16Phe)
|
|
|
|
NM_032790.4(ORAI1):c.471C>G (p.Leu157=)
|
|
|
|
NM_032790.4(ORAI1):c.473A>G (p.Asn158Ser)
|
|
|
|
NM_032790.4(ORAI1):c.477G>A (p.Ser159=)
|
rs547522547
|
|
|
NM_032790.4(ORAI1):c.478G>T (p.Val160Phe)
|
|
|
|
NM_032790.4(ORAI1):c.479T>C (p.Val160Ala)
|
|
|
|
NM_032790.4(ORAI1):c.47T>G (p.Leu16Arg)
|
|
|
|
NM_032790.4(ORAI1):c.492C>T (p.Pro164=)
|
|
|
|
NM_032790.4(ORAI1):c.498G>T (p.Glu166Asp)
|
rs781910070
|
|
|
NM_032790.4(ORAI1):c.499C>T (p.Arg167Cys)
|
|
|
|
NM_032790.4(ORAI1):c.500G>A (p.Arg167His)
|
|
|
|
NM_032790.4(ORAI1):c.500G>T (p.Arg167Leu)
|
|
|
|
NM_032790.4(ORAI1):c.503T>C (p.Met168Thr)
|
|
|
|
NM_032790.4(ORAI1):c.504G>A (p.Met168Ile)
|
rs1416832738
|
|
|
NM_032790.4(ORAI1):c.505dup (p.His169fs)
|
|
|
|
NM_032790.4(ORAI1):c.509G>A (p.Arg170His)
|
|
|
|
NM_032790.4(ORAI1):c.516C>T (p.Ile172=)
|
|
|
|
NM_032790.4(ORAI1):c.51C>T (p.Pro17=)
|
|
|
|
NM_032790.4(ORAI1):c.524C>T (p.Ala175Val)
|
|
|
|
NM_032790.4(ORAI1):c.525C>T (p.Ala175=)
|
|
|
|
NM_032790.4(ORAI1):c.526T>C (p.Trp176Arg)
|
|
|
|
NM_032790.4(ORAI1):c.52C>G (p.Pro18Ala)
|
|
|
|
NM_032790.4(ORAI1):c.537C>T (p.Ser179=)
|
rs2136852852
|
|
|
NM_032790.4(ORAI1):c.53dup (p.Ser19Lysfs)
|
|
|
|
NM_032790.4(ORAI1):c.541G>A (p.Val181Ile)
|
|
|
|
NM_032790.4(ORAI1):c.544A>G (p.Ile182Val)
|
|
|
|
NM_032790.4(ORAI1):c.546delC (p.Ile182Metfs)
|
rs1594212582
|
|
|
NM_032790.4(ORAI1):c.547G>A (p.Gly183Ser)
|
rs2136852917
|
|
|
NM_032790.4(ORAI1):c.549C>T (p.Gly183=)
|
rs1555324110
|
|
|
NM_032790.4(ORAI1):c.54A>G (p.Pro18=)
|
|
|
|
NM_032790.4(ORAI1):c.551C>T (p.Thr184Met)
|
|
|
|
NM_032790.4(ORAI1):c.552G>A (p.Thr184=)
|
rs782215248
|
|
|
NM_032790.4(ORAI1):c.552G>T (p.Thr184=)
|
|
|
|
NM_032790.4(ORAI1):c.55delA (p.Ser19Alafs)
|
rs2136841389
|
|
|
NM_032790.4(ORAI1):c.564_565delinsTC (p.Ala189Pro)
|
|
|
|
NM_032790.4(ORAI1):c.574G>T (p.Val192Leu)
|
|
|
|
NM_032790.4(ORAI1):c.58G>A (p.Gly20Ser)
|
rs1244560316
|
|
|
NM_032790.4(ORAI1):c.58G>T (p.Gly20Cys)
|
|
|
|
NM_032790.4(ORAI1):c.58_59delinsAT (p.Gly20Ile)
|
|
|
|
NM_032790.4(ORAI1):c.58_72delGGCGGCAGCACCACC (p.Gly20_Thr24del)
|
|
|
|
NM_032790.4(ORAI1):c.591C>T (p.Val197=)
|
|
|
|
NM_032790.4(ORAI1):c.5A>G (p.His2Arg)
|
rs2136841279
|
|
|
NM_032790.4(ORAI1):c.609G>A (p.Lys203=)
|
|
|
|
NM_032790.4(ORAI1):c.611A>T (p.Lys204Met)
|
|
|
|
NM_032790.4(ORAI1):c.613C>T (p.Gln205Ter)
|
rs2136853046
|
|
|
NM_032790.4(ORAI1):c.616C>G (p.Pro206Ala)
|
|
|
|
NM_032790.4(ORAI1):c.616C>T (p.Pro206Ser)
|
|
|
|
NM_032790.4(ORAI1):c.61G>C (p.Gly21Arg)
|
|
|
|
NM_032790.4(ORAI1):c.61G>T (p.Gly21Cys)
|
|
|
|
NM_032790.4(ORAI1):c.625C>T (p.Pro209Ser)
|
|
|
|
NM_032790.4(ORAI1):c.630G>A (p.Arg210=)
|
rs1893056910
|
|
|
NM_032790.4(ORAI1):c.634A>G (p.Thr212Ala)
|
rs2136853101
|
|
|
NM_032790.4(ORAI1):c.634A>T (p.Thr212Ser)
|
rs2136853101
|
|
|
NM_032790.4(ORAI1):c.637A>G (p.Ser213Gly)
|
|
|
|
NM_032790.4(ORAI1):c.63C>T (p.Gly21=)
|
|
|
|
NM_032790.4(ORAI1):c.648C>G (p.Pro216=)
|
rs782238081
|
|
|
NM_032790.4(ORAI1):c.648C>T (p.Pro216=)
|
rs782238081
|
|
|
NM_032790.4(ORAI1):c.64_81dup (p.Ser27_Arg28insSerThrThrSerGlySer)
|
rs2136841403
|
|
|
NM_032790.4(ORAI1):c.657C>T (p.Gly219=)
|
|
|
|
NM_032790.4(ORAI1):c.658G>A (p.Ala220Thr)
|
|
|
|
NM_032790.4(ORAI1):c.665C>A (p.Ala222Asp)
|
|
|
|
NM_032790.4(ORAI1):c.666C>G (p.Ala222=)
|
|
|
|
NM_032790.4(ORAI1):c.670G>A (p.Val224Ile)
|
rs782722476
|
|
|
NM_032790.4(ORAI1):c.670G>T (p.Val224Phe)
|
|
|
|
NM_032790.4(ORAI1):c.680G>A (p.Ser227Asn)
|
|
|
|
NM_032790.4(ORAI1):c.696C>T (p.Gly232=)
|
rs2136853300
|
|
|
NM_032790.4(ORAI1):c.699G>A (p.Gln233=)
|
rs2136853304
|
|
|
NM_032790.4(ORAI1):c.69C>T (p.Thr23=)
|
rs1555322491
|
|
|
NM_032790.4(ORAI1):c.6T>C (p.His2=)
|
|
|
|
NM_032790.4(ORAI1):c.6T>G (p.His2Gln)
|
rs1594204338
|
|
|
NM_032790.4(ORAI1):c.700G>A (p.Ala234Thr)
|
rs1594212759
|
|
|
NM_032790.4(ORAI1):c.709A>G (p.Ile237Val)
|
|
|
|
NM_032790.4(ORAI1):c.711C>T (p.Ile237=)
|
|
|
|
NM_032790.4(ORAI1):c.712G>C (p.Ala238Pro)
|
|
|
|
NM_032790.4(ORAI1):c.71C>T (p.Thr24Ile)
|
|
|
|
NM_032790.4(ORAI1):c.729G>T (p.Met243Ile)
|
|
|
|
NM_032790.4(ORAI1):c.736T>C (p.Phe246Leu)
|
|
|
|
NM_032790.4(ORAI1):c.738C>T (p.Phe246=)
|
rs782401288
|
|
|
NM_032790.4(ORAI1):c.740G>A (p.Gly247Asp)
|
rs2136853394
|
|
|
NM_032790.4(ORAI1):c.750T>C (p.Phe250=)
|
|
|
|
NM_032790.4(ORAI1):c.750dup (p.Ile251Tyrfs)
|
rs1265366427
|
|
|
NM_032790.4(ORAI1):c.752T>C (p.Ile251Thr)
|
|
|
|
NM_032790.4(ORAI1):c.753C>T (p.Ile251=)
|
|
|
|
NM_032790.4(ORAI1):c.75C>T (p.Ser25=)
|
rs1273511135
|
|
|
NM_032790.4(ORAI1):c.762C>T (p.Ala254=)
|
|
|
|
NM_032790.4(ORAI1):c.76G>A (p.Gly26Ser)
|
|
|
|
NM_032790.4(ORAI1):c.775C>A (p.Arg259Ser)
|
|
|
|
NM_032790.4(ORAI1):c.783G>C (p.Leu261=)
|
rs781878981
|
|
|
NM_032790.4(ORAI1):c.796A>G (p.Thr266Ala)
|
|
|
|
NM_032790.4(ORAI1):c.796A>T (p.Thr266Ser)
|
rs1555324156
|
|
|
NM_032790.4(ORAI1):c.79A>T (p.Ser27Cys)
|
|
|
|
NM_032790.4(ORAI1):c.7C>T (p.Pro3Ser)
|
rs1594204339
|
|
|
NM_032790.4(ORAI1):c.802C>T (p.Arg268Ter)
|
|
|
|
NM_032790.4(ORAI1):c.803G>A (p.Arg268Gln)
|
|
|
|
NM_032790.4(ORAI1):c.807G>A (p.Gln269=)
|
|
|
|
NM_032790.4(ORAI1):c.816G>C (p.Glu272Asp)
|
|
|
|
NM_032790.4(ORAI1):c.822C>A (p.Asn274Lys)
|
rs782201078
|
|
|
NM_032790.4(ORAI1):c.823G>C (p.Glu275Gln)
|
rs368440417
|
|
|
NM_032790.4(ORAI1):c.834G>A (p.Glu278=)
|
rs1893062288
|
|
|
NM_032790.4(ORAI1):c.845T>A (p.Leu282Ter)
|
rs1566472954
|
|
|
NM_032790.4(ORAI1):c.847C>T (p.Gln283Ter)
|
|
|
|
NM_032790.4(ORAI1):c.84C>G (p.Arg28=)
|
|
|
|
NM_032790.4(ORAI1):c.859G>C (p.Asp287His)
|
rs1555324170
|
|
|
NM_032790.4(ORAI1):c.85C>T (p.Arg29Trp)
|
rs1413893402
|
|
|
NM_032790.4(ORAI1):c.85_99dup (p.Arg33_Ser34insArgSerArgArgArg)
|
rs1372064351
|
|
|
NM_032790.4(ORAI1):c.862_863CA[3] (p.Arg289Thrfs)
|
rs1194726675
|
|
|
NM_032790.4(ORAI1):c.863A>G (p.His288Arg)
|
|
|
|
NM_032790.4(ORAI1):c.874delC (p.His292Thrfs)
|
|
|
|
NM_032790.4(ORAI1):c.878_879delCCinsAG (p.Pro293Gln)
|
|
|
|
NM_032790.4(ORAI1):c.888C>T (p.Pro296=)
|
rs782446947
|
|
|
NM_032790.4(ORAI1):c.88A>G (p.Ser30Gly)
|
rs2136841468
|
|
|
NM_032790.4(ORAI1):c.88_96dup (p.Arg32_Arg33insSerArgArg)
|
|
|
|
NM_032790.4(ORAI1):c.896A>G (p.His299Arg)
|
|
|
|
NM_032790.4(ORAI1):c.89G>A (p.Ser30Asn)
|
rs1389191128
|
|
|
NM_032790.4(ORAI1):c.8C>T (p.Pro3Leu)
|
|
|
|
NM_032790.4(ORAI1):c.91_93CGC[4] (p.Arg33_Ser34insArg)
|
rs782013212
|
|
|
NM_032790.4(ORAI1):c.91_93CGC[6] (p.Arg33_Ser34insArgArgArg)
|
rs782013212
|
|
|
NM_032790.4(ORAI1):c.94C>A (p.Arg32Ser)
|
|
|
|
NM_032790.4(ORAI1):c.97C>G (p.Arg33Gly)
|
rs1892787893
|
|
|
NM_032790.4(ORAI1):c.98G>A (p.Arg33His)
|
rs1465865018
|
|
|
NM_133378.4(TTN):c.10361-1262dup
|
rs876657673
|
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
|
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs)
|
rs727504825
|
|
|
NM_138638.5(CFL2):c.100_103del (p.Lys34fs)
|
rs1885387438
|
|
|
NM_138638.5(CFL2):c.114C>A (p.Phe38Leu)
|
|
|
|
NM_138638.5(CFL2):c.116G>A (p.Cys39Tyr)
|
|
|
|
NM_138638.5(CFL2):c.126T>C (p.Asp42=)
|
|
|
|
NM_138638.5(CFL2):c.127G>A (p.Asp43Asn)
|
rs2138474697
|
|
|
NM_138638.5(CFL2):c.147A>T (p.Val49=)
|
rs925438451
|
|
|
NM_138638.5(CFL2):c.151G>A (p.Glu51Lys)
|
rs1885385349
|
|
|
NM_138638.5(CFL2):c.154_157del (p.Ala52fs)
|
|
|
|
NM_138638.5(CFL2):c.176A>G (p.Asp59Gly)
|
|
|
|
NM_138638.5(CFL2):c.203A>G (p.Tyr68Cys)
|
rs1885382343
|
|
|
NM_138638.5(CFL2):c.22A>G (p.Asn8Asp)
|
rs2138475009
|
|
|
NM_138638.5(CFL2):c.242G>A (p.Arg81Gln)
|
rs1885381246
|
|
|
NM_138638.5(CFL2):c.24TGA[1] (p.Asp9del)
|
rs1268123385
|
|
|
NM_138638.5(CFL2):c.256G>A (p.Asp86Asn)
|
|
|
|
NM_138638.5(CFL2):c.25_26delinsAT (p.Asp9Ile)
|
|
|
|
NM_138638.5(CFL2):c.268G>A (p.Glu90Lys)
|
rs879148457
|
|
|
NM_138638.5(CFL2):c.273A>G (p.Thr91=)
|
|
|
|
NM_138638.5(CFL2):c.276A>C (p.Lys92Asn)
|
rs1468647166
|
|
|
NM_138638.5(CFL2):c.301T>C (p.Phe101Leu)
|
|
|
|
NM_138638.5(CFL2):c.304A>G (p.Ile102Val)
|
rs2138474233
|
|
|
NM_138638.5(CFL2):c.311+15A>G
|
|
|
|
NM_138638.5(CFL2):c.312-12T>G
|
|
|
|
NM_138638.5(CFL2):c.312-18dup
|
rs35515423
|
|
|
NM_138638.5(CFL2):c.312-19A>T
|
|
|
|
NM_138638.5(CFL2):c.312-3T>G
|
rs1885369430
|
|
|
NM_138638.5(CFL2):c.312-7del
|
rs35515423
|
|
|
NM_138638.5(CFL2):c.312-8_312-7del
|
rs35515423
|
|
|
NM_138638.5(CFL2):c.328C>T (p.Pro110Ser)
|
rs1594784547
|
|
|
NM_138638.5(CFL2):c.349del (p.Tyr117fs)
|
rs1885368186
|
|
|
NM_138638.5(CFL2):c.353C>G (p.Ala118Gly)
|
rs865927835
|
|
|
NM_138638.5(CFL2):c.357C>T (p.Ser119=)
|
rs1250346386
|
|
|
NM_138638.5(CFL2):c.360T>C (p.Ser120=)
|
|
|
|
NM_138638.5(CFL2):c.388+17T>C
|
|
|
|
NM_138638.5(CFL2):c.388G>C (p.Gly130Arg)
|
rs1566525113
|
|
|
NM_138638.5(CFL2):c.389-4T>C
|
|
|
|
NM_138638.5(CFL2):c.389-9T>C
|
|
|
|
NM_138638.5(CFL2):c.389-9del
|
rs1555333750
|
|
|
NM_138638.5(CFL2):c.4-115A>C
|
|
|
|
NM_138638.5(CFL2):c.4-115A>G
|
|
|
|
NM_138638.5(CFL2):c.4-12_4-11del
|
|
|
|
NM_138638.5(CFL2):c.4-14G>T
|
rs776588232
|
|
|
NM_138638.5(CFL2):c.4-17dup
|
|
|
|
NM_138638.5(CFL2):c.408A>G (p.Gln136=)
|
|
|
|
NM_138638.5(CFL2):c.418T>C (p.Leu140=)
|
rs1594784357
|
|
|
NM_138638.5(CFL2):c.452A>G (p.Glu151Gly)
|
rs2138473087
|
|
|
NM_138638.5(CFL2):c.457T>G (p.Leu153Val)
|
rs587780312
|
|
|
NM_138638.5(CFL2):c.467A>G (p.Asn156Ser)
|
rs2138473058
|
|
|
NM_138638.5(CFL2):c.469G>A (p.Val157Ile)
|
|
|
|
NM_138638.5(CFL2):c.471AGT[1] (p.Val159del)
|
rs1594784265
|
|
|
NM_138638.5(CFL2):c.475G>T (p.Val159Phe)
|
rs1885356615
|
|
|
NM_138638.5(CFL2):c.497T>C (p.Leu166Ser)
|
|
|
|
NM_138638.5(CFL2):c.51T>A (p.Asp17Glu)
|
|
|
|
NM_138638.5(CFL2):c.51T>C (p.Asp17=)
|
|
|
|
NM_138638.5(CFL2):c.54G>A (p.Met18Ile)
|
rs1594784960
|
|
|
NM_138638.5(CFL2):c.67TCT[1] (p.Ser24del)
|
|
|
|
NM_138638.5(CFL2):c.70T>G (p.Ser24Ala)
|
|
|
|
NM_138638.5(CFL2):c.78_80del (p.Glu28del)
|
rs751972348
|
|
|
NM_138638.5(CFL2):c.97A>C (p.Lys33Gln)
|
|
|
|
NM_139343.3(BIN1):c.1002+14C>T
|
|
|
|
NM_139343.3(BIN1):c.1018C>G (p.Pro340Ala)
|
|
|
|
NM_139343.3(BIN1):c.1020A>G (p.Pro340=)
|
|
|
|
NM_139343.3(BIN1):c.1052A>C (p.Lys351Thr)
|
|
|
|
NM_139343.3(BIN1):c.1060A>G (p.Lys354Glu)
|
rs886043420
|
|
|
NM_139343.3(BIN1):c.1077C>T (p.Leu359=)
|
|
|
|
NM_139343.3(BIN1):c.1111A>G (p.Ser371Gly)
|
rs1553456782
|
|
|
NM_139343.3(BIN1):c.1113C>G (p.Ser371Arg)
|
|
|
|
NM_139343.3(BIN1):c.1121C>T (p.Thr374Ile)
|
|
|
|
NM_139343.3(BIN1):c.1122C>T (p.Thr374=)
|
rs1386270090
|
|
|
NM_139343.3(BIN1):c.1124C>G (p.Pro375Arg)
|
rs2104935838
|
|
|
NM_139343.3(BIN1):c.1124C>T (p.Pro375Leu)
|
|
|
|
NM_139343.3(BIN1):c.1131+13C>T
|
|
|
|
NM_139343.3(BIN1):c.1131+14_1131+22del
|
rs751183383
|
|
|
NM_139343.3(BIN1):c.1131+16C>T
|
|
|
|
NM_139343.3(BIN1):c.1131+18C>A
|
rs191760397
|
|
|
NM_139343.3(BIN1):c.1131+7_1131+26del
|
rs555116802
|
|
|
NM_139343.3(BIN1):c.1132-12G>C
|
|
|
|
NM_139343.3(BIN1):c.1132-22TGC[7]
|
rs748026377
|
|
|
NM_139343.3(BIN1):c.1132-22TGC[8]
|
rs748026377
|
|
|
NM_139343.3(BIN1):c.1132-2A>G
|
rs1295546366
|
|
|
NM_139343.3(BIN1):c.1132-5C>T
|
|
|
|
NM_139343.3(BIN1):c.1132-8C>T
|
rs1573549844
|
|
|
NM_139343.3(BIN1):c.1137G>T (p.Glu379Asp)
|
|
|
|
NM_139343.3(BIN1):c.1145G>A (p.Gly382Glu)
|
|
|
|
NM_139343.3(BIN1):c.1147C>A (p.Pro383Thr)
|
rs1573549506
|
|
|
NM_139343.3(BIN1):c.1147C>T (p.Pro383Ser)
|
rs1573549506
|
|
|
NM_139343.3(BIN1):c.1159C>G (p.Gln387Glu)
|
|
|
|
NM_139343.3(BIN1):c.1162G>A (p.Ala388Thr)
|
|
|
|
NM_139343.3(BIN1):c.1166G>C (p.Ser389Thr)
|
rs1683302135
|
|
|
NM_139343.3(BIN1):c.11T>C (p.Met4Thr)
|
|
|
|
NM_139343.3(BIN1):c.1200C>T (p.Pro400=)
|
|
|
|
NM_139343.3(BIN1):c.1201G>A (p.Val401Met)
|
|
|
|
NM_139343.3(BIN1):c.1206G>A (p.Thr402=)
|
|
|
|
NM_139343.3(BIN1):c.1208G>A (p.Ser403Asn)
|
|
|
|
NM_139343.3(BIN1):c.1213G>A (p.Val405Met)
|
|
|
|
NM_139343.3(BIN1):c.1218G>A (p.Lys406=)
|
|
|
|
NM_139343.3(BIN1):c.1227G>A (p.Thr409=)
|
|
|
|
NM_139343.3(BIN1):c.1228C>T (p.Pro410Ser)
|
|
|
|
NM_139343.3(BIN1):c.1239+13C>T
|
|
|
|
NM_139343.3(BIN1):c.1239+15_1239+24del
|
rs964389278
|
|
|
NM_139343.3(BIN1):c.1239+16C>A
|
rs550357998
|
|
|
NM_139343.3(BIN1):c.1239+17A>G
|
|
|
|
NM_139343.3(BIN1):c.1240-20G>A
|
rs377476606
|
|
|
NM_139343.3(BIN1):c.1240-6G>A
|
rs548956444
|
|
|
NM_139343.3(BIN1):c.1240-6G>T
|
rs548956444
|
|
|
NM_139343.3(BIN1):c.1240-9T>C
|
rs1360673670
|
|
|
NM_139343.3(BIN1):c.1248A>C (p.Pro416=)
|
|
|
|
NM_139343.3(BIN1):c.1251G>A (p.Trp417Ter)
|
rs2104891817
|
|
|
NM_139343.3(BIN1):c.1251G>C (p.Trp417Cys)
|
|
|
|
NM_139343.3(BIN1):c.1263+12G>A
|
|
|
|
NM_139343.3(BIN1):c.1264-11_1270del
|
rs776737413
|
|
|
NM_139343.3(BIN1):c.1264-12G>T
|
rs765093822
|
|
|
NM_139343.3(BIN1):c.1264-16C>T
|
|
|
|
NM_139343.3(BIN1):c.1286G>A (p.Ser429Asn)
|
|
|
|
NM_139343.3(BIN1):c.1303C>A (p.Pro435Thr)
|
rs1240564481
|
|
|
NM_139343.3(BIN1):c.1317G>A (p.Glu439=)
|
|
|
|
NM_139343.3(BIN1):c.1326T>G (p.Phe442Leu)
|
|
|
|
NM_139343.3(BIN1):c.1334C>A (p.Ser445Tyr)
|
rs1158338100
|
|
|
NM_139343.3(BIN1):c.1335C>T (p.Ser445=)
|
|
|
|
NM_139343.3(BIN1):c.1342A>C (p.Ser448Arg)
|
|
|
|
NM_139343.3(BIN1):c.1349C>A (p.Thr450Lys)
|
rs750715069
|
|
|
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)
|
|
|
|
NM_139343.3(BIN1):c.1353C>G (p.Ala451=)
|
rs552244334
|
|
|
NM_139343.3(BIN1):c.1362G>C (p.Gly454=)
|
rs61748155
|
|
|
NM_139343.3(BIN1):c.1366G>A (p.Ala456Thr)
|
|
|
|
NM_139343.3(BIN1):c.1371+10C>G
|
rs1573539169
|
|
|
NM_139343.3(BIN1):c.1371+13C>T
|
|
|
|
NM_139343.3(BIN1):c.1372-15G>A
|
|
|
|
NM_139343.3(BIN1):c.1372-17C>T
|
|
|
|
NM_139343.3(BIN1):c.1372-1G>A
|
rs1682909859
|
|
|
NM_139343.3(BIN1):c.1382C>T (p.Ala461Val)
|
|
|
|
NM_139343.3(BIN1):c.1395G>A (p.Ala465=)
|
rs765870974
|
|
|
NM_139343.3(BIN1):c.1395G>C (p.Ala465=)
|
rs765870974
|
|
|
NM_139343.3(BIN1):c.1408C>G (p.Pro470Ala)
|
|
|
|
NM_139343.3(BIN1):c.1413G>A (p.Ala471=)
|
|
|
|
NM_139343.3(BIN1):c.142G>A (p.Val48Ile)
|
|
|
|
NM_139343.3(BIN1):c.1435G>A (p.Glu479Lys)
|
rs865803817
|
|
|
NM_139343.3(BIN1):c.1439C>A (p.Thr480Lys)
|
|
|
|
NM_139343.3(BIN1):c.1461+16C>T
|
rs2104866756
|
|
|
NM_139343.3(BIN1):c.1461+20G>A
|
rs2104866729
|
|
|
NM_139343.3(BIN1):c.1462-13C>T
|
|
|
|
NM_139343.3(BIN1):c.1470del (p.Pro491fs)
|
|
|
|
NM_139343.3(BIN1):c.1472del (p.Pro491fs)
|
rs1682848303
|
|
|
NM_139343.3(BIN1):c.1478T>C (p.Val493Ala)
|
rs1682847067
|
|
|
NM_139343.3(BIN1):c.1483G>T (p.Val495Leu)
|
rs1191840422
|
|
|
NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu)
|
|
|
|
NM_139343.3(BIN1):c.1494C>T (p.Phe498=)
|
|
|
|
NM_139343.3(BIN1):c.14_15delinsAG (p.Gly5Glu)
|
|
|
|
NM_139343.3(BIN1):c.1510G>A (p.Gly504Ser)
|
|
|
|
NM_139343.3(BIN1):c.1515C>G (p.Thr505=)
|
rs375583449
|
|
|
NM_139343.3(BIN1):c.1515C>T (p.Thr505=)
|
rs375583449
|
|
|
NM_139343.3(BIN1):c.1524C>T (p.Gly508=)
|
|
|
|
NM_139343.3(BIN1):c.1532G>A (p.Gly511Glu)
|
|
|
|
NM_139343.3(BIN1):c.1557A>C (p.Pro519=)
|
|
|
|
NM_139343.3(BIN1):c.155A>T (p.Asn52Ile)
|
|
|
|
NM_139343.3(BIN1):c.1560T>G (p.Gly520=)
|
rs1573530113
|
|
|
NM_139343.3(BIN1):c.156C>T (p.Asn52=)
|
|
|
|
NM_139343.3(BIN1):c.1573-13G>A
|
|
|
|
NM_139343.3(BIN1):c.1573-19C>T
|
|
|
|
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg)
|
rs886043878
|
|
|
NM_139343.3(BIN1):c.1580C>T (p.Ala527Val)
|
rs2104859449
|
|
|
NM_139343.3(BIN1):c.1583A>G (p.Gln528Arg)
|
|
|
|
NM_139343.3(BIN1):c.1595C>A (p.Thr532Lys)
|
|
|
|
NM_139343.3(BIN1):c.1601C>G (p.Thr534Ser)
|
|
|
|
NM_139343.3(BIN1):c.1607C>T (p.Thr536Ile)
|
rs773732601
|
|
|
NM_139343.3(BIN1):c.160C>G (p.Gln54Glu)
|
|
|
|
NM_139343.3(BIN1):c.1635T>G (p.Asp545Glu)
|
rs1445898966
|
|
|
NM_139343.3(BIN1):c.165+13G>A
|
rs2105143217
|
|
|
NM_139343.3(BIN1):c.165+17C>T
|
|
|
|
NM_139343.3(BIN1):c.165+1G>A
|
|
|
|
NM_139343.3(BIN1):c.165+20G>A
|
|
|
|
NM_139343.3(BIN1):c.166-10C>T
|
|
|
|
NM_139343.3(BIN1):c.166-16G>T
|
|
|
|
NM_139343.3(BIN1):c.166-20C>A
|
|
|
|
NM_139343.3(BIN1):c.1663C>T (p.Pro555Ser)
|
|
|
|
NM_139343.3(BIN1):c.1672C>A (p.Gln558Lys)
|
rs1682762039
|
|
|
NM_139343.3(BIN1):c.1674+13T>A
|
|
|
|
NM_139343.3(BIN1):c.1674+19C>T
|
|
|
|
NM_139343.3(BIN1):c.1674+7G>C
|
|
|
|
NM_139343.3(BIN1):c.1675-16G>A
|
|
|
|
NM_139343.3(BIN1):c.1675-2A>G
|
|
|
|
NM_139343.3(BIN1):c.1675-9G>A
|
|
|
|
NM_139343.3(BIN1):c.1675G>A (p.Asp559Asn)
|
|
|
|
NM_139343.3(BIN1):c.167C>T (p.Thr56Met)
|
|
|
|
NM_139343.3(BIN1):c.168G>A (p.Thr56=)
|
rs528828320
|
|
|
NM_139343.3(BIN1):c.1692G>A (p.Met564Ile)
|
|
|
|
NM_139343.3(BIN1):c.1695C>A (p.Gly565=)
|
|
|
|
NM_139343.3(BIN1):c.1695C>T (p.Gly565=)
|
|
|
|
NM_139343.3(BIN1):c.1696G>T (p.Val566Leu)
|
rs761759946
|
|
|
NM_139343.3(BIN1):c.1707C>T (p.Ser569=)
|
|
|
|
NM_139343.3(BIN1):c.1708G>A (p.Asp570Asn)
|
rs368983991
|
|
|
NM_139343.3(BIN1):c.1712G>A (p.Trp571Ter)
|
|
|
|
NM_139343.3(BIN1):c.1726_1727delinsTT (p.Glu576Leu)
|
rs2104840053
|
|
|
NM_139343.3(BIN1):c.173G>T (p.Gly58Val)
|
rs1282156307
|
|
|
NM_139343.3(BIN1):c.1746C>T (p.Gly582=)
|
|
|
|
NM_139343.3(BIN1):c.1752C>T (p.Phe584=)
|
rs1422298151
|
|
|
NM_139343.3(BIN1):c.1755C>T (p.Pro585=)
|
|
|
|
NM_139343.3(BIN1):c.1766C>T (p.Thr589Ile)
|
|
|
|
NM_139343.3(BIN1):c.1771A>G (p.Arg591Gly)
|
rs2104839547
|
|
|
NM_139343.3(BIN1):c.1773G>A (p.Arg591=)
|
|
|
|
NM_139343.3(BIN1):c.1774G>T (p.Val592Phe)
|
|
|
|
NM_139343.3(BIN1):c.177C>G (p.Thr59=)
|
|
|
|
NM_139343.3(BIN1):c.179G>A (p.Arg60Gln)
|
rs1558835946
|
|
|
NM_139343.3(BIN1):c.193C>A (p.Leu65Ile)
|
rs2105078067
|
|
|
NM_139343.3(BIN1):c.213C>G (p.Ser71=)
|
|
|
|
NM_139343.3(BIN1):c.213C>T (p.Ser71=)
|
rs560078675
|
|
|
NM_139343.3(BIN1):c.220+15_220+21del
|
|
|
|
NM_139343.3(BIN1):c.220+19G>A
|
rs775915004
|
|
|
NM_139343.3(BIN1):c.220+4G>A
|
|
|
|
NM_139343.3(BIN1):c.222C>T (p.Ala74=)
|
rs2105076332
|
|
|
NM_139343.3(BIN1):c.224T>C (p.Met75Thr)
|
rs1024658796
|
|
|
NM_139343.3(BIN1):c.229G>A (p.Glu77Lys)
|
rs1685759135
|
|
|
NM_139343.3(BIN1):c.229G>T (p.Glu77Ter)
|
|
|
|
NM_139343.3(BIN1):c.236C>T (p.Ser79Phe)
|
rs1377099769
|
|
|
NM_139343.3(BIN1):c.252G>A (p.Glu84=)
|
|
|
|
NM_139343.3(BIN1):c.259C>T (p.Gln87Ter)
|
rs2105075896
|
|
|
NM_139343.3(BIN1):c.277G>A (p.Asp93Asn)
|
rs774273606
|
|
|
NM_139343.3(BIN1):c.279T>A (p.Asp93Glu)
|
rs770994335
|
|
|
NM_139343.3(BIN1):c.27G>A (p.Val9=)
|
|
|
|
NM_139343.3(BIN1):c.284C>T (p.Pro95Leu)
|
|
|
|
NM_139343.3(BIN1):c.285C>A (p.Pro95=)
|
rs377467117
|
|
|
NM_139343.3(BIN1):c.29C>A (p.Thr10Lys)
|
rs1681237812
|
|
|
NM_139343.3(BIN1):c.29C>T (p.Thr10Met)
|
|
|
|
NM_139343.3(BIN1):c.309C>A (p.Ile103=)
|
|
|
|
NM_139343.3(BIN1):c.310G>A (p.Ala104Thr)
|
rs754932468
|
|
|
NM_139343.3(BIN1):c.310G>T (p.Ala104Ser)
|
|
|
|
NM_139343.3(BIN1):c.313G>A (p.Glu105Lys)
|
rs1685745258
|
|
|
NM_139343.3(BIN1):c.313_314delinsTT (p.Glu105Leu)
|
|
|
|
NM_139343.3(BIN1):c.315+3G>C
|
rs764821578
|
|
|
NM_139343.3(BIN1):c.315+7A>C
|
rs1573647825
|
|
|
NM_139343.3(BIN1):c.316-11G>T
|
|
|
|
NM_139343.3(BIN1):c.316-15T>C
|
|
|
|
NM_139343.3(BIN1):c.316-20C>T
|
|
|
|
NM_139343.3(BIN1):c.329T>A (p.Leu110Gln)
|
rs2105070437
|
|
|
NM_139343.3(BIN1):c.330G>C (p.Leu110=)
|
rs746946704
|
|
|
NM_139343.3(BIN1):c.345C>T (p.His115=)
|
|
|
|
NM_139343.3(BIN1):c.366G>A (p.Ala122=)
|
|
|
|
NM_139343.3(BIN1):c.376A>G (p.Met126Val)
|
|
|
|
NM_139343.3(BIN1):c.380A>G (p.Asp127Gly)
|
|
|
|
NM_139343.3(BIN1):c.382_383dup (p.Tyr129fs)
|
rs761813363
|
|
|
NM_139343.3(BIN1):c.385T>C (p.Tyr129His)
|
rs2105069995
|
|
|
NM_139343.3(BIN1):c.399C>T (p.Phe133=)
|
rs755303195
|
|
|
NM_139343.3(BIN1):c.403G>A (p.Asp135Asn)
|
|
|
|
NM_139343.3(BIN1):c.411+15T>G
|
|
|
|
NM_139343.3(BIN1):c.411+1G>T
|
|
|
|
NM_139343.3(BIN1):c.411+5G>C
|
|
|
|
NM_139343.3(BIN1):c.412-11G>C
|
rs2105059266
|
|
|
NM_139343.3(BIN1):c.412-15C>T
|
|
|
|
NM_139343.3(BIN1):c.412-4C>T
|
|
|
|
NM_139343.3(BIN1):c.418A>C (p.Ile140Leu)
|
rs1407049344
|
|
|
NM_139343.3(BIN1):c.430G>A (p.Gly144Arg)
|
rs1685516968
|
|
|
NM_139343.3(BIN1):c.430_432del (p.Gly144del)
|
rs1685516331
|
|
|
NM_139343.3(BIN1):c.432G>A (p.Gly144=)
|
rs758913903
|
|
|
NM_139343.3(BIN1):c.432G>T (p.Gly144=)
|
|
|
|
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys)
|
rs1249621033
|
|
|
NM_139343.3(BIN1):c.444G>T (p.Val148=)
|
|
|
|
NM_139343.3(BIN1):c.460C>T (p.Arg154Trp)
|
rs761914168
|
|
|
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)
|
rs267606681
|
|
|
NM_139343.3(BIN1):c.469T>C (p.Tyr157His)
|
rs1553466026
|
|
|
NM_139343.3(BIN1):c.478C>T (p.Leu160Phe)
|
rs1685511003
|
|
|
NM_139343.3(BIN1):c.493AAG[1] (p.Lys166del)
|
rs775374523
|
|
|
NM_139343.3(BIN1):c.504A>G (p.Glu168=)
|
|
|
|
NM_139343.3(BIN1):c.506C>A (p.Ala169Asp)
|
|
|
|
NM_139343.3(BIN1):c.519+15C>T
|
|
|
|
NM_139343.3(BIN1):c.519+16G>C
|
|
|
|
NM_139343.3(BIN1):c.519+6G>T
|
|
|
|
NM_139343.3(BIN1):c.51C>G (p.Asn17Lys)
|
rs2105378914
|
|
|
NM_139343.3(BIN1):c.520-13C>T
|
|
|
|
NM_139343.3(BIN1):c.520-4C>T
|
|
|
|
NM_139343.3(BIN1):c.520-8C>T
|
rs769133774
|
|
|
NM_139343.3(BIN1):c.520-9C>G
|
rs1685399315
|
|
|
NM_139343.3(BIN1):c.528G>T (p.Ser176=)
|
|
|
|
NM_139343.3(BIN1):c.552G>C (p.Gln184His)
|
|
|
|
NM_139343.3(BIN1):c.55C>G (p.Gln19Glu)
|
rs2105378861
|
|
|
NM_139343.3(BIN1):c.574G>T (p.Ala192Ser)
|
|
|
|
NM_139343.3(BIN1):c.596A>T (p.Asn199Ile)
|
rs2105049284
|
|
|
NM_139343.3(BIN1):c.5C>T (p.Ala2Val)
|
|
|
|
NM_139343.3(BIN1):c.603C>T (p.Leu201=)
|
|
|
|
NM_139343.3(BIN1):c.612+14C>T
|
|
|
|
NM_139343.3(BIN1):c.612+18C>A
|
rs572040801
|
|
|
NM_139343.3(BIN1):c.612+18C>T
|
|
|
|
NM_139343.3(BIN1):c.612+19C>G
|
|
|
|
NM_139343.3(BIN1):c.613-15C>T
|
|
|
|
NM_139343.3(BIN1):c.613-7C>T
|
|
|
|
NM_139343.3(BIN1):c.615C>G (p.Ala205=)
|
rs748308882
|
|
|
NM_139343.3(BIN1):c.618G>A (p.Glu206=)
|
|
|
|
NM_139343.3(BIN1):c.61A>C (p.Lys21Gln)
|
|
|
|
NM_139343.3(BIN1):c.630C>T (p.Ile210=)
|
rs886038728
|
|
|
NM_139343.3(BIN1):c.660T>C (p.Asn220=)
|
rs1573611005
|
|
|
NM_139343.3(BIN1):c.662T>A (p.Val221Glu)
|
|
|
|
NM_139343.3(BIN1):c.666T>G (p.Asp222Glu)
|
rs376323215
|
|
|
NM_139343.3(BIN1):c.669G>A (p.Leu223=)
|
rs1573610955
|
|
|
NM_139343.3(BIN1):c.679C>G (p.Leu227Val)
|
rs886054835
|
|
|
NM_139343.3(BIN1):c.698+19C>T
|
rs2105007728
|
|
|
NM_139343.3(BIN1):c.698+7C>T
|
rs2105007972
|
|
|
NM_139343.3(BIN1):c.698+9_698+10inv
|
|
|
|
NM_139343.3(BIN1):c.699-12G>A
|
|
|
|
NM_139343.3(BIN1):c.701G>A (p.Arg234His)
|
|
|
|
NM_139343.3(BIN1):c.70C>G (p.Arg24Gly)
|
rs2105378684
|
|
|
NM_139343.3(BIN1):c.70C>T (p.Arg24Cys)
|
|
|
|
NM_139343.3(BIN1):c.723G>A (p.Thr241=)
|
rs370016618
|
|
|
NM_139343.3(BIN1):c.727C>G (p.Gln243Glu)
|
|
|
|
NM_139343.3(BIN1):c.72C>T (p.Arg24=)
|
rs1681233008
|
|
|
NM_139343.3(BIN1):c.737C>T (p.Ala246Val)
|
|
|
|
NM_139343.3(BIN1):c.740G>A (p.Gly247Asp)
|
rs1684781364
|
|
|
NM_139343.3(BIN1):c.741C>G (p.Gly247=)
|
rs766037529
|
|
|
NM_139343.3(BIN1):c.759C>T (p.His253=)
|
|
|
|
NM_139343.3(BIN1):c.769A>G (p.Ser257Gly)
|
|
|
|
NM_139343.3(BIN1):c.770G>A (p.Ser257Asn)
|
rs761203710
|
|
|
NM_139343.3(BIN1):c.774+16C>T
|
rs1482374716
|
|
|
NM_139343.3(BIN1):c.774+9T>C
|
|
|
|
NM_139343.3(BIN1):c.775-13G>T
|
rs778119265
|
|
|
NM_139343.3(BIN1):c.775-19C>T
|
|
|
|
NM_139343.3(BIN1):c.775-6C>G
|
rs753202898
|
|
|
NM_139343.3(BIN1):c.775-7C>G
|
rs1684594015
|
|
|
NM_139343.3(BIN1):c.775-8T>C
|
|
|
|
NM_139343.3(BIN1):c.779A>T (p.Asn260Ile)
|
|
|
|
NM_139343.3(BIN1):c.789C>T (p.Leu263=)
|
|
|
|
NM_139343.3(BIN1):c.808C>T (p.Leu270=)
|
|
|
|
NM_139343.3(BIN1):c.821A>G (p.His274Arg)
|
|
|
|
NM_139343.3(BIN1):c.823G>T (p.Gly275Trp)
|
rs771506242
|
|
|
NM_139343.3(BIN1):c.84+10C>A
|
|
|
|
NM_139343.3(BIN1):c.84+11C>T
|
|
|
|
NM_139343.3(BIN1):c.84+13G>A
|
|
|
|
NM_139343.3(BIN1):c.84+14A>T
|
rs2105378351
|
|
|
NM_139343.3(BIN1):c.84+16C>A
|
|
|
|
NM_139343.3(BIN1):c.84+16C>G
|
|
|
|
NM_139343.3(BIN1):c.84+19dup
|
rs751236360
|
|
|
NM_139343.3(BIN1):c.84+4286_84+4287delinsAT
|
|
|
|
NM_139343.3(BIN1):c.84+6C>A
|
|
|
|
NM_139343.3(BIN1):c.840G>A (p.Thr280=)
|
|
|
|
NM_139343.3(BIN1):c.847G>A (p.Ala283Thr)
|
|
|
|
NM_139343.3(BIN1):c.84G>C (p.Lys28Asn)
|
rs1681229622
|
|
|
NM_139343.3(BIN1):c.85-18C>G
|
rs953081488
|
|
|
NM_139343.3(BIN1):c.857+12G>A
|
|
|
|
NM_139343.3(BIN1):c.857+18C>T
|
rs1244052584
|
|
|
NM_139343.3(BIN1):c.857+4C>G
|
|
|
|
NM_139343.3(BIN1):c.857+5G>A
|
|
|
|
NM_139343.3(BIN1):c.857+8C>T
|
|
|
|
NM_139343.3(BIN1):c.858-10T>C
|
|
|
|
NM_139343.3(BIN1):c.863A>G (p.Asn288Ser)
|
rs2104954121
|
|
|
NM_139343.3(BIN1):c.865G>A (p.Ala289Thr)
|
|
|
|
NM_139343.3(BIN1):c.901G>T (p.Asp301Tyr)
|
rs1462533329
|
|
|
NM_139343.3(BIN1):c.902A>G (p.Asp301Gly)
|
rs1259572705
|
|
|
NM_139343.3(BIN1):c.916G>A (p.Ala306Thr)
|
|
|
|
NM_139343.3(BIN1):c.920C>T (p.Thr307Ile)
|
rs199551366
|
|
|
NM_139343.3(BIN1):c.935T>G (p.Val312Gly)
|
|
|
|
NM_139343.3(BIN1):c.939C>T (p.Asn313=)
|
|
|
|
NM_139343.3(BIN1):c.943G>A (p.Glu315Lys)
|
rs769801396
|
|
|
NM_139343.3(BIN1):c.943G>C (p.Glu315Gln)
|
rs769801396
|
|
|
NM_139343.3(BIN1):c.953C>T (p.Pro318Leu)
|
|
|
|
NM_139343.3(BIN1):c.954G>A (p.Pro318=)
|
|
|
|
NM_139343.3(BIN1):c.958G>A (p.Gly320Ser)
|
|
|
|
NM_139343.3(BIN1):c.969_980del (p.Pro324_Thr327del)
|
|
|
|
NM_139343.3(BIN1):c.969_980dup (p.Thr327_Leu328insProGlyAlaThr)
|
|
|
|
NM_139343.3(BIN1):c.992C>G (p.Ser331Cys)
|
|
|
|
NM_139343.3(BIN1):c.9G>C (p.Glu3Asp)
|
rs558639756
|
|
|
NM_145064.3(STAC3):c.1008G>C (p.Gln336His)
|
rs2136821205
|
|
|
NM_145064.3(STAC3):c.1014A>G (p.Gly338=)
|
rs376366403
|
|
|
NM_145064.3(STAC3):c.1023G>A (p.Ala341=)
|
rs61747067
|
|
|
NM_145064.3(STAC3):c.1068T>C (p.Phe356=)
|
|
|
|
NM_145064.3(STAC3):c.1073C>T (p.Thr358Ile)
|
rs2136820993
|
|
|
NM_145064.3(STAC3):c.1090A>T (p.Ile364Phe)
|
|
|
|
NM_145064.3(STAC3):c.111A>G (p.Thr37=)
|
|
|
|
NM_145064.3(STAC3):c.113A>G (p.Lys38Arg)
|
|
|
|
NM_145064.3(STAC3):c.125T>C (p.Leu42Pro)
|
|
|
|
NM_145064.3(STAC3):c.141G>A (p.Gln47=)
|
rs2136836200
|
|
|
NM_145064.3(STAC3):c.145A>G (p.Asn49Asp)
|
rs2037840980
|
|
|
NM_145064.3(STAC3):c.151G>C (p.Glu51Gln)
|
rs2136836172
|
|
|
NM_145064.3(STAC3):c.170G>A (p.Gly57Asp)
|
|
|
|
NM_145064.3(STAC3):c.170G>C (p.Gly57Ala)
|
rs1027548586
|
|
|
NM_145064.3(STAC3):c.181TAC[1] (p.Tyr62del)
|
rs2037839479
|
|
|
NM_145064.3(STAC3):c.195GGAAGA[2] (p.Glu75_Glu76del)
|
rs747619441
|
|
|
NM_145064.3(STAC3):c.195GGAAGA[4] (p.Glu75_Glu76dup)
|
rs747619441
|
|
|
NM_145064.3(STAC3):c.19C>T (p.Leu7=)
|
rs2136837471
|
|
|
NM_145064.3(STAC3):c.214GAG[4] (p.Glu76del)
|
rs781007752
|
|
|
NM_145064.3(STAC3):c.214GAG[6] (p.Glu76dup)
|
rs781007752
|
|
|
NM_145064.3(STAC3):c.249G>A (p.Lys83=)
|
rs1555194716
|
|
|
NM_145064.3(STAC3):c.24G>C (p.Glu8Asp)
|
rs2136837458
|
|
|
NM_145064.3(STAC3):c.264G>A (p.Lys88=)
|
|
|
|
NM_145064.3(STAC3):c.264G>T (p.Lys88Asn)
|
rs200362421
|
|
|
NM_145064.3(STAC3):c.26C>A (p.Ser9Tyr)
|
rs775388111
|
|
|
NM_145064.3(STAC3):c.270C>T (p.His90=)
|
|
|
|
NM_145064.3(STAC3):c.273A>G (p.Lys91=)
|
rs2136835566
|
|
|
NM_145064.3(STAC3):c.276C>T (p.Phe92=)
|
|
|
|
NM_145064.3(STAC3):c.293A>G (p.Lys98Arg)
|
|
|
|
NM_145064.3(STAC3):c.297_301del (p.Pro100fs)
|
|
|
|
NM_145064.3(STAC3):c.299C>T (p.Pro100Leu)
|
rs1176692820
|
|
|
NM_145064.3(STAC3):c.300A>G (p.Pro100=)
|
|
|
|
NM_145064.3(STAC3):c.324G>A (p.Arg108=)
|
|
|
|
NM_145064.3(STAC3):c.329T>C (p.Ile110Thr)
|
|
|
|
NM_145064.3(STAC3):c.334+14G>A
|
rs2136835190
|
|
|
NM_145064.3(STAC3):c.334+3G>T
|
rs2136835225
|
|
|
NM_145064.3(STAC3):c.334C>T (p.Leu112Phe)
|
|
|
|
NM_145064.3(STAC3):c.336CAA[2] (p.Asn114del)
|
rs1260528039
|
|
|
NM_145064.3(STAC3):c.347T>A (p.Phe116Tyr)
|
|
|
|
NM_145064.3(STAC3):c.347T>G (p.Phe116Cys)
|
rs1565783065
|
|
|
NM_145064.3(STAC3):c.34C>G (p.Pro12Ala)
|
rs1382772416
|
|
|
NM_145064.3(STAC3):c.379A>G (p.Ile127Val)
|
|
|
|
NM_145064.3(STAC3):c.383_399del (p.His128fs)
|
rs1555194630
|
|
|
NM_145064.3(STAC3):c.392G>C (p.Cys131Ser)
|
|
|
|
NM_145064.3(STAC3):c.395A>G (p.Gln132Arg)
|
|
|
|
NM_145064.3(STAC3):c.404T>C (p.Val135Ala)
|
rs2037825175
|
|
|
NM_145064.3(STAC3):c.416G>C (p.Arg139Thr)
|
|
|
|
NM_145064.3(STAC3):c.417A>G (p.Arg139=)
|
|
|
|
NM_145064.3(STAC3):c.419G>C (p.Cys140Ser)
|
rs779015879
|
|
|
NM_145064.3(STAC3):c.424G>A (p.Gly142Ser)
|
rs777565251
|
|
|
NM_145064.3(STAC3):c.424G>C (p.Gly142Arg)
|
rs777565251
|
|
|
NM_145064.3(STAC3):c.432+11T>C
|
rs2037823824
|
|
|
NM_145064.3(STAC3):c.432+17G>A
|
|
|
|
NM_145064.3(STAC3):c.432+20C>G
|
|
|
|
NM_145064.3(STAC3):c.432+4A>T
|
rs751033943
|
|
|
NM_145064.3(STAC3):c.433-19C>G
|
|
|
|
NM_145064.3(STAC3):c.433-19dup
|
|
|
|
NM_145064.3(STAC3):c.433-20C>G
|
|
|
|
NM_145064.3(STAC3):c.440G>A (p.Gly147Asp)
|
rs1280812031
|
|
|
NM_145064.3(STAC3):c.445C>T (p.His149Tyr)
|
|
|
|
NM_145064.3(STAC3):c.447T>C (p.His149=)
|
|
|
|
NM_145064.3(STAC3):c.449G>A (p.Arg150Gln)
|
|
|
|
NM_145064.3(STAC3):c.458G>A (p.Ser153Asn)
|
rs2037800739
|
|
|
NM_145064.3(STAC3):c.468_469del (p.Tyr157fs)
|
|
|
|
NM_145064.3(STAC3):c.473G>A (p.Ser158Asn)
|
rs1592247209
|
|
|
NM_145064.3(STAC3):c.487G>A (p.Ala163Thr)
|
rs1555194487
|
|
|
NM_145064.3(STAC3):c.491G>C (p.Cys164Ser)
|
rs2037798842
|
|
|
NM_145064.3(STAC3):c.495C>T (p.Val165=)
|
|
|
|
NM_145064.3(STAC3):c.505+13T>C
|
|
|
|
NM_145064.3(STAC3):c.505+15T>C
|
|
|
|
NM_145064.3(STAC3):c.505+20C>T
|
|
|
|
NM_145064.3(STAC3):c.505+6T>G
|
rs2136832342
|
|
|
NM_145064.3(STAC3):c.506-19T>C
|
|
|
|
NM_145064.3(STAC3):c.506-22_506-20del
|
|
|
|
NM_145064.3(STAC3):c.506-6G>T
|
rs755388478
|
|
|
NM_145064.3(STAC3):c.506-7C>T
|
|
|
|
NM_145064.3(STAC3):c.518G>T (p.Arg173Leu)
|
rs187407788
|
|
|
NM_145064.3(STAC3):c.519C>T (p.Arg173=)
|
|
|
|
NM_145064.3(STAC3):c.530T>C (p.Val177Ala)
|
|
|
|
NM_145064.3(STAC3):c.541C>T (p.Leu181=)
|
|
|
|
NM_145064.3(STAC3):c.544C>A (p.Arg182Ser)
|
rs768476164
|
|
|
NM_145064.3(STAC3):c.554T>C (p.Val185Ala)
|
rs2037753047
|
|
|
NM_145064.3(STAC3):c.56G>T (p.Arg19Leu)
|
|
|
|
NM_145064.3(STAC3):c.583G>A (p.Gly195Arg)
|
rs1382250150
|
|
|
NM_145064.3(STAC3):c.603+10G>A
|
rs988040333
|
|
|
NM_145064.3(STAC3):c.604-7C>T
|
|
|
|
NM_145064.3(STAC3):c.622G>C (p.Glu208Gln)
|
rs2037706930
|
|
|
NM_145064.3(STAC3):c.652G>A (p.Glu218Lys)
|
rs753872266
|
|
|
NM_145064.3(STAC3):c.66+10G>A
|
|
|
|
NM_145064.3(STAC3):c.66+11G>A
|
|
|
|
NM_145064.3(STAC3):c.66+8T>C
|
|
|
|
NM_145064.3(STAC3):c.662C>A (p.Pro221His)
|
rs760547303
|
|
|
NM_145064.3(STAC3):c.670+19C>T
|
|
|
|
NM_145064.3(STAC3):c.670+2T>A
|
|
|
|
NM_145064.3(STAC3):c.670G>A (p.Gly224Arg)
|
|
|
|
NM_145064.3(STAC3):c.671-10C>G
|
rs983045607
|
|
|
NM_145064.3(STAC3):c.694del (p.Ala232fs)
|
rs774555559
|
|
|
NM_145064.3(STAC3):c.720+18del
|
|
|
|
NM_145064.3(STAC3):c.720+19_720+20insAAGAATCCTTCCTCCCTTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGCAATAGAGTGACCCAACATCGCGAACAACAACCCCGTCCCGGAGAGAGATCGGTGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_145064.3(STAC3):c.720+9C>A
|
|
|
|
NM_145064.3(STAC3):c.721-15C>T
|
|
|
|
NM_145064.3(STAC3):c.721-3del
|
|
|
|
NM_145064.3(STAC3):c.744G>A (p.Gln248=)
|
|
|
|
NM_145064.3(STAC3):c.746C>T (p.Ser249Phe)
|
rs760144996
|
|
|
NM_145064.3(STAC3):c.763_766del (p.Leu255fs)
|
rs773050511
|
|
|
NM_145064.3(STAC3):c.770G>T (p.Arg257Leu)
|
rs2037686346
|
|
|
NM_145064.3(STAC3):c.781C>T (p.Leu261=)
|
|
|
|
NM_145064.3(STAC3):c.799G>C (p.Asp267His)
|
rs2136822846
|
|
|
NM_145064.3(STAC3):c.805C>T (p.Pro269Ser)
|
|
|
|
NM_145064.3(STAC3):c.806+8G>T
|
|
|
|
NM_145064.3(STAC3):c.807-13C>T
|
|
|
|
NM_145064.3(STAC3):c.807-16T>C
|
rs2136822470
|
|
|
NM_145064.3(STAC3):c.807-5C>A
|
rs762164153
|
|
|
NM_145064.3(STAC3):c.816_817del (p.Lys273fs)
|
|
|
|
NM_145064.3(STAC3):c.819G>A (p.Lys273=)
|
rs1429276510
|
|
|
NM_145064.3(STAC3):c.834T>C (p.Asp278=)
|
|
|
|
NM_145064.3(STAC3):c.842A>G (p.Asn281Ser)
|
rs115276341
|
|
|
NM_145064.3(STAC3):c.843T>C (p.Asn281=)
|
rs2136822332
|
|
|
NM_145064.3(STAC3):c.858+14C>A
|
|
|
|
NM_145064.3(STAC3):c.859-11_859-8dup
|
rs754530968
|
|
|
NM_145064.3(STAC3):c.859-20C>T
|
|
|
|
NM_145064.3(STAC3):c.859-4C>A
|
rs776936909
|
|
|
NM_145064.3(STAC3):c.893C>G (p.Pro298Arg)
|
rs2136821900
|
|
|
NM_145064.3(STAC3):c.894A>G (p.Pro298=)
|
rs1592242685
|
|
|
NM_145064.3(STAC3):c.904A>T (p.Ile302Phe)
|
rs2136821866
|
|
|
NM_145064.3(STAC3):c.932A>G (p.His311Arg)
|
rs1555193817
|
|
|
NM_145064.3(STAC3):c.935G>A (p.Arg312His)
|
rs2037674310
|
|
|
NM_145064.3(STAC3):c.954G>A (p.Val318=)
|
rs1249446780
|
|
|
NM_145064.3(STAC3):c.964G>T (p.Glu322Ter)
|
rs2136821674
|
|
|
NM_145064.3(STAC3):c.969dup (p.Gly324fs)
|
|
|
|
NM_145064.3(STAC3):c.978C>G (p.Ile326Met)
|
rs754455763
|
|
|
NM_145064.3(STAC3):c.987G>T (p.Lys329Asn)
|
rs1445308443
|
|
|
NM_145064.3(STAC3):c.996+1G>A
|
rs112907880
|
|
|
NM_145064.3(STAC3):c.996+3A>G
|
rs2136821619
|
|
|
NM_145064.3(STAC3):c.996+4G>A
|
rs2037672628
|
|
|
NM_145064.3(STAC3):c.997-1G>C
|
rs779483367
|
|
|
NM_145064.3(STAC3):c.997-5_997-3del
|
|
|
|
NM_145064.3(STAC3):c.997-6T>G
|
rs1565779607
|
|
|
NM_145064.3(STAC3):c.999C>G (p.Ile333Met)
|
rs754352201
|
|
|
NM_152263.4(TPM3):c.117+14T>C
|
|
|
|
NM_152263.4(TPM3):c.118-11G>C
|
|
|
|
NM_152263.4(TPM3):c.118-20G>C
|
|
|
|
NM_152263.4(TPM3):c.118-3T>C
|
rs375206251
|
|
|
NM_152263.4(TPM3):c.118-3_118-2del
|
|
|
|
NM_152263.4(TPM3):c.118C>G (p.Leu40Val)
|
rs1160675914
|
|
|
NM_152263.4(TPM3):c.118C>T (p.Leu40=)
|
|
|
|
NM_152263.4(TPM3):c.11C>T (p.Ala4Val)
|
rs199474711
|
|
|
NM_152263.4(TPM3):c.124G>A (p.Asp42Asn)
|
rs1663671899
|
|
|
NM_152263.4(TPM3):c.137C>T (p.Ala46Val)
|
|
|
|
NM_152263.4(TPM3):c.159G>A (p.Gly53=)
|
|
|
|
NM_152263.4(TPM3):c.163G>A (p.Glu55Lys)
|
rs2148294608
|
|
|
NM_152263.4(TPM3):c.171G>A (p.Glu57=)
|
|
|
|
NM_152263.4(TPM3):c.185_193del (p.Ser62_Ala64del)
|
|
|
|
NM_152263.4(TPM3):c.19A>G (p.Lys7Glu)
|
|
|
|
NM_152263.4(TPM3):c.212A>T (p.Lys71Met)
|
rs2148294477
|
|
|
NM_152263.4(TPM3):c.229AAG[1] (p.Lys78del)
|
rs2148294430
|
|
|
NM_152263.4(TPM3):c.235G>C (p.Ala79Pro)
|
|
|
|
NM_152263.4(TPM3):c.243+11GA[2]
|
rs146969764
|
|
|
NM_152263.4(TPM3):c.243+17T>C
|
|
|
|
NM_152263.4(TPM3):c.243+1G>A
|
|
|
|
NM_152263.4(TPM3):c.245C>T (p.Ala82Val)
|
|
|
|
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly)
|
rs1571418855
|
|
|
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)
|
rs1571418855
|
|
|
NM_152263.4(TPM3):c.272G>A (p.Arg91His)
|
|
|
|
NM_152263.4(TPM3):c.273T>C (p.Arg91=)
|
rs974189739
|
|
|
NM_152263.4(TPM3):c.273_281del (p.Arg92_Gln94del)
|
|
|
|
NM_152263.4(TPM3):c.298C>G (p.Leu100Val)
|
rs121964853
|
|
|
NM_152263.4(TPM3):c.301G>A (p.Asp101Asn)
|
rs2148257542
|
|
|
NM_152263.4(TPM3):c.317G>A (p.Arg106His)
|
|
|
|
NM_152263.4(TPM3):c.346G>A (p.Glu116Lys)
|
|
|
|
NM_152263.4(TPM3):c.36G>C (p.Leu12=)
|
|
|
|
NM_152263.4(TPM3):c.378-11A>G
|
|
|
|
NM_152263.4(TPM3):c.378-11A>T
|
|
|
|
NM_152263.4(TPM3):c.378-16G>T
|
rs2148242406
|
|
|
NM_152263.4(TPM3):c.401G>A (p.Arg134Gln)
|
rs769493959
|
|
|
NM_152263.4(TPM3):c.412G>C (p.Asp138His)
|
rs2148242185
|
|
|
NM_152263.4(TPM3):c.423G>A (p.Lys141=)
|
rs2148242145
|
|
|
NM_152263.4(TPM3):c.43G>C (p.Asp15His)
|
rs1553251644
|
|
|
NM_152263.4(TPM3):c.44A>T (p.Asp15Val)
|
rs2148295444
|
|
|
NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)
|
|
|
|
NM_152263.4(TPM3):c.455C>T (p.Ala152Val)
|
rs1553249076
|
|
|
NM_152263.4(TPM3):c.466G>A (p.Ala156Thr)
|
rs199474714
|
|
|
NM_152263.4(TPM3):c.494A>G (p.Glu165Gly)
|
rs1661790334
|
|
|
NM_152263.4(TPM3):c.495+10C>G
|
rs1043806769
|
|
|
NM_152263.4(TPM3):c.495+12T>G
|
|
|
|
NM_152263.4(TPM3):c.495+13C>T
|
rs2148241904
|
|
|
NM_152263.4(TPM3):c.495+9C>G
|
rs1661789594
|
|
|
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)
|
rs121964854
|
|
|
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)
|
rs121964854
|
|
|
NM_152263.4(TPM3):c.503G>A (p.Arg168His)
|
rs121964852
|
|
|
NM_152263.4(TPM3):c.503G>T (p.Arg168Leu)
|
|
|
|
NM_152263.4(TPM3):c.510G>A (p.Leu170=)
|
|
|
|
NM_152263.4(TPM3):c.518T>A (p.Ile173Asn)
|
|
|
|
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter)
|
rs727504181
|
|
|
NM_152263.4(TPM3):c.552T>C (p.Ala184=)
|
|
|
|
NM_152263.4(TPM3):c.556C>T (p.Leu186=)
|
rs1203258070
|
|
|
NM_152263.4(TPM3):c.566+13C>T
|
|
|
|
NM_152263.4(TPM3):c.589_590delinsAT (p.Glu197Met)
|
rs2148235398
|
|
|
NM_152263.4(TPM3):c.591G>A (p.Glu197=)
|
|
|
|
NM_152263.4(TPM3):c.612C>T (p.Asn204=)
|
|
|
|
NM_152263.4(TPM3):c.621T>G (p.Ser207=)
|
|
|
|
NM_152263.4(TPM3):c.635C>T (p.Ala212Val)
|
|
|
|
NM_152263.4(TPM3):c.636G>A (p.Ala212=)
|
|
|
|
NM_152263.4(TPM3):c.642+2T>C
|
|
|
|
NM_152263.4(TPM3):c.642+8C>G
|
|
|
|
NM_152263.4(TPM3):c.643-13A>C
|
|
|
|
NM_152263.4(TPM3):c.643-8_643-4del
|
|
|
|
NM_152263.4(TPM3):c.687T>C (p.Leu229=)
|
|
|
|
NM_152263.4(TPM3):c.705+12G>T
|
|
|
|
NM_152263.4(TPM3):c.706-11A>G
|
rs752438266
|
|
|
NM_152263.4(TPM3):c.706-13A>G
|
|
|
|
NM_152263.4(TPM3):c.706-2dup
|
rs1085307588
|
|
|
NM_152263.4(TPM3):c.706-3C>T
|
rs750493083
|
|
|
NM_152263.4(TPM3):c.706-4C>T
|
rs2148231499
|
|
|
NM_152263.4(TPM3):c.706-5C>G
|
|
|
|
NM_152263.4(TPM3):c.706-6C>T
|
rs1661447571
|
|
|
NM_152263.4(TPM3):c.706-9T>A
|
rs931328025
|
|
|
NM_152263.4(TPM3):c.709G>A (p.Glu237Lys)
|
rs1661445206
|
|
|
NM_152263.4(TPM3):c.714C>G (p.Thr238=)
|
|
|
|
NM_152263.4(TPM3):c.716G>A (p.Arg239His)
|
|
|
|
NM_152263.4(TPM3):c.737C>T (p.Ser246Leu)
|
rs1553248522
|
|
|
NM_152263.4(TPM3):c.753A>G (p.Glu251=)
|
|
|
|
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys)
|
rs1553248515
|
|
|
NM_152263.4(TPM3):c.760A>G (p.Ile254Val)
|
rs1553248513
|
|
|
NM_152263.4(TPM3):c.763G>A (p.Asp255Asn)
|
|
|
|
NM_152263.4(TPM3):c.775+15G>C
|
|
|
|
NM_152263.4(TPM3):c.775+6G>T
|
|
|
|
NM_152263.4(TPM3):c.775+7A>G
|
|
|
|
NM_152263.4(TPM3):c.776-15C>T
|
|
|
|
NM_152263.4(TPM3):c.776-18G>T
|
|
|
|
NM_152263.4(TPM3):c.776-6G>A
|
|
|
|
NM_152263.4(TPM3):c.776-6G>C
|
|
|
|
NM_152263.4(TPM3):c.780G>A (p.Glu260=)
|
rs1661333585
|
|
|
NM_152263.4(TPM3):c.796C>T (p.Leu266=)
|
rs189530777
|
|
|
NM_152263.4(TPM3):c.821A>C (p.Glu274Ala)
|
|
|
|
NM_152263.4(TPM3):c.854+8T>C
|
|
|
|
NM_152263.4(TPM3):c.855-19T>G
|
|
|
|
NM_152263.4(TPM3):c.855-20A>G
|
|
|
|
NM_152263.4(TPM3):c.855-6A>T
|
rs2148221842
|
|
|
NM_152263.4(TPM3):c.855-8T>A
|
|
|
|
NM_152263.4(TPM3):c.85G>A (p.Glu29Lys)
|
rs1663696530
|
|
|
NM_152263.4(TPM3):c.87_91del (p.Gln30fs)
|
rs2148295371
|
|
|
NM_152263.4(TPM3):c.88C>G (p.Gln30Glu)
|
rs1160965388
|
|
|
NM_152263.4(TPM3):c.8A>C (p.Glu3Ala)
|
|
|
|
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)
|
rs80358248
|
|
|
NM_152393.4(KLHL40):c.1007A>G (p.Asn336Ser)
|
rs1225875238
|
|
|
NM_152393.4(KLHL40):c.1016A>G (p.Tyr339Cys)
|
|
|
|
NM_152393.4(KLHL40):c.1041C>T (p.Val347=)
|
|
|
|
NM_152393.4(KLHL40):c.104G>A (p.Cys35Tyr)
|
rs866611021
|
|
|
NM_152393.4(KLHL40):c.1053C>A (p.His351Gln)
|
rs61736693
|
|
|
NM_152393.4(KLHL40):c.1057A>C (p.Ser353Arg)
|
|
|
|
NM_152393.4(KLHL40):c.1086C>T (p.Phe362=)
|
|
|
|
NM_152393.4(KLHL40):c.1090G>C (p.Ala364Pro)
|
rs1559613938
|
|
|
NM_152393.4(KLHL40):c.1110C>A (p.Asn370Lys)
|
rs201966674
|
|
|
NM_152393.4(KLHL40):c.1110C>G (p.Asn370Lys)
|
|
|
|
NM_152393.4(KLHL40):c.1110C>T (p.Asn370=)
|
rs201966674
|
|
|
NM_152393.4(KLHL40):c.1111G>C (p.Glu371Gln)
|
rs771203108
|
|
|
NM_152393.4(KLHL40):c.1118A>T (p.Asn373Ile)
|
rs779105816
|
|
|
NM_152393.4(KLHL40):c.1132A>T (p.Met378Leu)
|
rs1697280326
|
|
|
NM_152393.4(KLHL40):c.1136_1137delinsAA (p.Ser379Lys)
|
rs2125844947
|
|
|
NM_152393.4(KLHL40):c.1152+1G>A
|
|
|
|
NM_152393.4(KLHL40):c.1152+2T>A
|
rs1575219191
|
|
|
NM_152393.4(KLHL40):c.1153-2A>T
|
rs752493018
|
|
|
NM_152393.4(KLHL40):c.1153-3C>A
|
rs767265252
|
|
|
NM_152393.4(KLHL40):c.1173G>A (p.Glu391=)
|
|
|
|
NM_152393.4(KLHL40):c.1183A>G (p.Met395Val)
|
rs199854093
|
|
|
NM_152393.4(KLHL40):c.1193T>G (p.Leu398Arg)
|
|
|
|
NM_152393.4(KLHL40):c.119G>A (p.Gly40Asp)
|
rs1575218183
|
|
|
NM_152393.4(KLHL40):c.1219C>T (p.Leu407=)
|
|
|
|
NM_152393.4(KLHL40):c.1231C>A (p.Leu411Ile)
|
|
|
|
NM_152393.4(KLHL40):c.1253G>T (p.Gly418Val)
|
rs1697303545
|
|
|
NM_152393.4(KLHL40):c.125G>T (p.Arg42Leu)
|
rs907216548
|
|
|
NM_152393.4(KLHL40):c.1263G>C (p.Glu421Asp)
|
rs771421442
|
|
|
NM_152393.4(KLHL40):c.1275C>G (p.Gly425=)
|
|
|
|
NM_152393.4(KLHL40):c.1279C>A (p.Arg427Ser)
|
|
|
|
NM_152393.4(KLHL40):c.1280G>A (p.Arg427His)
|
|
|
|
NM_152393.4(KLHL40):c.1292C>A (p.Ser431Ter)
|
|
|
|
NM_152393.4(KLHL40):c.1293G>C (p.Ser431=)
|
rs150475700
|
|
|
NM_152393.4(KLHL40):c.1294G>T (p.Val432Phe)
|
rs759601864
|
|
|
NM_152393.4(KLHL40):c.1313+10G>A
|
|
|
|
NM_152393.4(KLHL40):c.1313+19G>A
|
rs2125845367
|
|
|
NM_152393.4(KLHL40):c.1315T>A (p.Ser439Thr)
|
|
|
|
NM_152393.4(KLHL40):c.1317A>G (p.Ser439=)
|
|
|
|
NM_152393.4(KLHL40):c.1341G>T (p.Pro447=)
|
|
|
|
NM_152393.4(KLHL40):c.135G>C (p.Pro45=)
|
|
|
|
NM_152393.4(KLHL40):c.1370T>A (p.Val457Glu)
|
rs1559614662
|
|
|
NM_152393.4(KLHL40):c.1372_1383del (p.Leu458_Met461del)
|
rs1553680747
|
|
|
NM_152393.4(KLHL40):c.1373T>C (p.Leu458Pro)
|
rs1697313619
|
|
|
NM_152393.4(KLHL40):c.1374C>G (p.Leu458=)
|
rs1697313659
|
|
|
NM_152393.4(KLHL40):c.1383G>C (p.Met461Ile)
|
rs762113138
|
|
|
NM_152393.4(KLHL40):c.1386C>T (p.Asp462=)
|
|
|
|
NM_152393.4(KLHL40):c.1395C>A (p.Tyr465Ter)
|
rs139588377
|
|
|
NM_152393.4(KLHL40):c.13T>C (p.Leu5=)
|
|
|
|
NM_152393.4(KLHL40):c.1405G>T (p.Gly469Cys)
|
rs367579275
|
|
|
NM_152393.4(KLHL40):c.1407C>T (p.Gly469=)
|
rs1575220363
|
|
|
NM_152393.4(KLHL40):c.140A>T (p.His47Leu)
|
rs759817120
|
|
|
NM_152393.4(KLHL40):c.1412_1415delinsC (p.Gly471_Ser472delinsAla)
|
rs1427058930
|
|
|
NM_152393.4(KLHL40):c.1418A>G (p.Asp473Gly)
|
rs1697314863
|
|
|
NM_152393.4(KLHL40):c.1422-10C>G
|
rs377128183
|
|
|
NM_152393.4(KLHL40):c.1422-3C>A
|
rs1697317994
|
|
|
NM_152393.4(KLHL40):c.1444G>A (p.Val482Ile)
|
|
|
|
NM_152393.4(KLHL40):c.1447T>C (p.Tyr483His)
|
|
|
|
NM_152393.4(KLHL40):c.1450dup (p.Asp484fs)
|
|
|
|
NM_152393.4(KLHL40):c.1451A>T (p.Asp484Val)
|
rs2125845564
|
|
|
NM_152393.4(KLHL40):c.1458G>A (p.Lys486=)
|
|
|
|
NM_152393.4(KLHL40):c.1479G>C (p.Leu493=)
|
rs557028600
|
|
|
NM_152393.4(KLHL40):c.148G>A (p.Val50Met)
|
rs1004240706
|
|
|
NM_152393.4(KLHL40):c.148G>T (p.Val50Leu)
|
rs1004240706
|
|
|
NM_152393.4(KLHL40):c.1494C>T (p.Thr498=)
|
|
|
|
NM_152393.4(KLHL40):c.1503_1504delinsCG (p.Leu502Val)
|
rs2125845587
|
|
|
NM_152393.4(KLHL40):c.1504C>A (p.Leu502Ile)
|
rs766195312
|
|
|
NM_152393.4(KLHL40):c.1513G>A (p.Ala505Thr)
|
|
|
|
NM_152393.4(KLHL40):c.1518T>C (p.Thr506=)
|
rs371545830
|
|
|
NM_152393.4(KLHL40):c.1524T>C (p.His508=)
|
rs1218296322
|
|
|
NM_152393.4(KLHL40):c.1528G>A (p.Gly510Ser)
|
rs2125845594
|
|
|
NM_152393.4(KLHL40):c.1532G>A (p.Arg511His)
|
|
|
|
NM_152393.4(KLHL40):c.1547C>T (p.Ala516Val)
|
|
|
|
NM_152393.4(KLHL40):c.1552G>A (p.Val518Ile)
|
rs1697321354
|
|
|
NM_152393.4(KLHL40):c.1552G>T (p.Val518Phe)
|
rs1697321354
|
|
|
NM_152393.4(KLHL40):c.1560C>T (p.Asp520=)
|
|
|
|
NM_152393.4(KLHL40):c.1574G>C (p.Ser525Thr)
|
|
|
|
NM_152393.4(KLHL40):c.1598C>T (p.Thr533Ile)
|
rs2125845619
|
|
|
NM_152393.4(KLHL40):c.1601A>G (p.Asp534Gly)
|
rs1697322389
|
|
|
NM_152393.4(KLHL40):c.1607+13G>A
|
|
|
|
NM_152393.4(KLHL40):c.1607+17C>T
|
|
|
|
NM_152393.4(KLHL40):c.1607+1G>T
|
rs2125845625
|
|
|
NM_152393.4(KLHL40):c.1607+9G>A
|
rs757477975
|
|
|
NM_152393.4(KLHL40):c.1607A>G (p.Lys536Arg)
|
|
|
|
NM_152393.4(KLHL40):c.1608-17T>G
|
|
|
|
NM_152393.4(KLHL40):c.1608-1G>A
|
rs2125846068
|
|
|
NM_152393.4(KLHL40):c.1608-1G>C
|
|
|
|
NM_152393.4(KLHL40):c.1608-3dup
|
rs773899564
|
|
|
NM_152393.4(KLHL40):c.1608-4C>G
|
rs2125846065
|
|
|
NM_152393.4(KLHL40):c.1608-9C>T
|
rs2125846059
|
|
|
NM_152393.4(KLHL40):c.1618T>A (p.Phe540Ile)
|
rs2125846077
|
|
|
NM_152393.4(KLHL40):c.1624G>T (p.Ala542Ser)
|
rs1434763715
|
|
|
NM_152393.4(KLHL40):c.1628T>C (p.Phe543Ser)
|
rs2125846086
|
|
|
NM_152393.4(KLHL40):c.164G>A (p.Ser55Asn)
|
rs1697260624
|
|
|
NM_152393.4(KLHL40):c.1665G>T (p.Leu555=)
|
|
|
|
NM_152393.4(KLHL40):c.1668G>A (p.Val556=)
|
|
|
|
NM_152393.4(KLHL40):c.1702C>T (p.Leu568=)
|
|
|
|
NM_152393.4(KLHL40):c.1704G>A (p.Leu568=)
|
rs1697354849
|
|
|
NM_152393.4(KLHL40):c.1713G>A (p.Glu571=)
|
|
|
|
NM_152393.4(KLHL40):c.1727T>C (p.Val576Ala)
|
|
|
|
NM_152393.4(KLHL40):c.1734A>C (p.Thr578=)
|
|
|
|
NM_152393.4(KLHL40):c.173del (p.Phe58fs)
|
rs1697260724
|
|
|
NM_152393.4(KLHL40):c.1754+17G>A
|
|
|
|
NM_152393.4(KLHL40):c.1755-16T>A
|
|
|
|
NM_152393.4(KLHL40):c.1755G>A (p.Arg585=)
|
|
|
|
NM_152393.4(KLHL40):c.1761C>G (p.Asn587Lys)
|
rs34020089
|
|
|
NM_152393.4(KLHL40):c.1762GAG[2] (p.Glu590del)
|
rs142843476
|
|
|
NM_152393.4(KLHL40):c.1767G>A (p.Glu589=)
|
|
|
|
NM_152393.4(KLHL40):c.177G>A (p.Arg59=)
|
|
|
|
NM_152393.4(KLHL40):c.1783G>A (p.Gly595Ser)
|
|
|
|
NM_152393.4(KLHL40):c.1792C>T (p.Arg598Trp)
|
rs767572121
|
|
|
NM_152393.4(KLHL40):c.1793G>C (p.Arg598Pro)
|
rs775821505
|
|
|
NM_152393.4(KLHL40):c.1801G>T (p.Ala601Ser)
|
rs144659891
|
|
|
NM_152393.4(KLHL40):c.1814G>A (p.Gly605Asp)
|
|
|
|
NM_152393.4(KLHL40):c.1823T>C (p.Phe608Ser)
|
|
|
|
NM_152393.4(KLHL40):c.1833G>A (p.Val611=)
|
rs2125846559
|
|
|
NM_152393.4(KLHL40):c.1834C>T (p.Arg612Trp)
|
|
|
|
NM_152393.4(KLHL40):c.1848_1849inv (p.Cys617Arg)
|
|
|
|
NM_152393.4(KLHL40):c.1849_1850inv (p.Cys617His)
|
|
|
|
NM_152393.4(KLHL40):c.1852C>T (p.Leu618=)
|
|
|
|
NM_152393.4(KLHL40):c.1854_1857del (p.Thr619fs)
|
rs377241839
|
|
|
NM_152393.4(KLHL40):c.1858A>C (p.Lys620Gln)
|
rs751003619
|
|
|
NM_152393.4(KLHL40):c.187C>T (p.Leu63=)
|
rs995719770
|
|
|
NM_152393.4(KLHL40):c.189A>G (p.Leu63=)
|
rs745589468
|
|
|
NM_152393.4(KLHL40):c.192C>G (p.Ala64=)
|
|
|
|
NM_152393.4(KLHL40):c.197C>T (p.Pro66Leu)
|
rs200810691
|
|
|
NM_152393.4(KLHL40):c.205_214del (p.Ala69fs)
|
rs2125844554
|
|
|
NM_152393.4(KLHL40):c.207G>C (p.Ala69=)
|
|
|
|
NM_152393.4(KLHL40):c.211G>T (p.Glu71Ter)
|
rs375331819
|
|
|
NM_152393.4(KLHL40):c.221T>C (p.Leu74Pro)
|
|
|
|
NM_152393.4(KLHL40):c.222G>A (p.Leu74=)
|
|
|
|
NM_152393.4(KLHL40):c.223G>T (p.Glu75Ter)
|
rs2125844563
|
|
|
NM_152393.4(KLHL40):c.22G>A (p.Ala8Thr)
|
rs772847156
|
|
|
NM_152393.4(KLHL40):c.22_33del (p.Ala8_Gln11del)
|
rs2125844451
|
|
|
NM_152393.4(KLHL40):c.23C>T (p.Ala8Val)
|
|
|
|
NM_152393.4(KLHL40):c.248C>T (p.Ala83Val)
|
rs1246685748
|
|
|
NM_152393.4(KLHL40):c.270C>T (p.Tyr90=)
|
|
|
|
NM_152393.4(KLHL40):c.273A>G (p.Thr91=)
|
rs1419343736
|
|
|
NM_152393.4(KLHL40):c.275C>G (p.Ser92Ter)
|
|
|
|
NM_152393.4(KLHL40):c.288G>A (p.Leu96=)
|
|
|
|
NM_152393.4(KLHL40):c.289G>T (p.Asp97Tyr)
|
|
|
|
NM_152393.4(KLHL40):c.295G>A (p.Ala99Thr)
|
rs2125844586
|
|
|
NM_152393.4(KLHL40):c.303G>A (p.Val101=)
|
rs574760880
|
|
|
NM_152393.4(KLHL40):c.321G>A (p.Ala107=)
|
|
|
|
NM_152393.4(KLHL40):c.344C>A (p.Ser115Tyr)
|
|
|
|
NM_152393.4(KLHL40):c.348C>A (p.Ile116=)
|
rs768735358
|
|
|
NM_152393.4(KLHL40):c.353C>T (p.Thr118Ile)
|
rs2125844609
|
|
|
NM_152393.4(KLHL40):c.354C>G (p.Thr118=)
|
|
|
|
NM_152393.4(KLHL40):c.359G>C (p.Cys120Ser)
|
|
|
|
NM_152393.4(KLHL40):c.35G>C (p.Arg12Pro)
|
rs748935246
|
|
|
NM_152393.4(KLHL40):c.361G>C (p.Val121Leu)
|
rs201494537
|
|
|
NM_152393.4(KLHL40):c.379C>T (p.Arg127Cys)
|
rs1259316854
|
|
|
NM_152393.4(KLHL40):c.412C>T (p.Arg138Cys)
|
rs752541165
|
|
|
NM_152393.4(KLHL40):c.419G>C (p.Gly140Ala)
|
|
|
|
NM_152393.4(KLHL40):c.433T>A (p.Cys145Ser)
|
rs781200087
|
|
|
NM_152393.4(KLHL40):c.435C>T (p.Cys145=)
|
|
|
|
NM_152393.4(KLHL40):c.439C>A (p.Arg147Ser)
|
|
|
|
NM_152393.4(KLHL40):c.458G>A (p.Arg153His)
|
|
|
|
NM_152393.4(KLHL40):c.477C>T (p.His159=)
|
rs2125844656
|
|
|
NM_152393.4(KLHL40):c.480C>T (p.Phe160=)
|
|
|
|
NM_152393.4(KLHL40):c.499G>T (p.Ala167Ser)
|
rs2125844665
|
|
|
NM_152393.4(KLHL40):c.501T>G (p.Ala167=)
|
rs1553680357
|
|
|
NM_152393.4(KLHL40):c.507C>T (p.Phe169=)
|
rs2125844669
|
|
|
NM_152393.4(KLHL40):c.518C>G (p.Ser173Trp)
|
rs774662858
|
|
|
NM_152393.4(KLHL40):c.519G>A (p.Ser173=)
|
rs1184675035
|
|
|
NM_152393.4(KLHL40):c.52C>G (p.Leu18Val)
|
rs888481518
|
|
|
NM_152393.4(KLHL40):c.544_545del (p.Ser182fs)
|
rs1384412486
|
|
|
NM_152393.4(KLHL40):c.581T>A (p.Val194Glu)
|
rs1250586231
|
|
|
NM_152393.4(KLHL40):c.58C>T (p.Gln20Ter)
|
rs1292866391
|
|
|
NM_152393.4(KLHL40):c.595A>G (p.Met199Val)
|
rs1697270672
|
|
|
NM_152393.4(KLHL40):c.598C>G (p.Arg200Gly)
|
rs548002700
|
|
|
NM_152393.4(KLHL40):c.599G>A (p.Arg200Gln)
|
rs1402508999
|
|
|
NM_152393.4(KLHL40):c.599G>T (p.Arg200Leu)
|
|
|
|
NM_152393.4(KLHL40):c.601T>C (p.Trp201Arg)
|
|
|
|
NM_152393.4(KLHL40):c.605C>G (p.Ala202Gly)
|
|
|
|
NM_152393.4(KLHL40):c.613G>A (p.Gly205Ser)
|
rs746095931
|
|
|
NM_152393.4(KLHL40):c.613G>T (p.Gly205Cys)
|
rs746095931
|
|
|
NM_152393.4(KLHL40):c.618C>T (p.Asp206=)
|
rs867880713
|
|
|
NM_152393.4(KLHL40):c.619G>C (p.Ala207Pro)
|
|
|
|
NM_152393.4(KLHL40):c.631del (p.Ala211fs)
|
rs752734208
|
|
|
NM_152393.4(KLHL40):c.637C>G (p.Arg213Gly)
|
|
|
|
NM_152393.4(KLHL40):c.654C>T (p.Pro218=)
|
|
|
|
NM_152393.4(KLHL40):c.655A>G (p.Thr219Ala)
|
|
|
|
NM_152393.4(KLHL40):c.673C>T (p.Arg225Cys)
|
rs1697271848
|
|
|
NM_152393.4(KLHL40):c.680G>C (p.Arg227Pro)
|
rs750754016
|
|
|
NM_152393.4(KLHL40):c.680G>T (p.Arg227Leu)
|
rs750754016
|
|
|
NM_152393.4(KLHL40):c.693C>T (p.Arg231=)
|
rs2125844758
|
|
|
NM_152393.4(KLHL40):c.6G>T (p.Ala2=)
|
|
|
|
NM_152393.4(KLHL40):c.709C>T (p.Arg237Cys)
|
|
|
|
NM_152393.4(KLHL40):c.719G>A (p.Arg240His)
|
rs894967112
|
|
|
NM_152393.4(KLHL40):c.719G>C (p.Arg240Pro)
|
|
|
|
NM_152393.4(KLHL40):c.720C>T (p.Arg240=)
|
|
|
|
NM_152393.4(KLHL40):c.729C>T (p.Leu243=)
|
|
|
|
NM_152393.4(KLHL40):c.730G>A (p.Val244Met)
|
rs1310855261
|
|
|
NM_152393.4(KLHL40):c.752T>G (p.Leu251Arg)
|
rs928500134
|
|
|
NM_152393.4(KLHL40):c.755_757del (p.Arg252_Lys253delinsGln)
|
|
|
|
NM_152393.4(KLHL40):c.761T>G (p.Val254Gly)
|
rs1575218760
|
|
|
NM_152393.4(KLHL40):c.768G>C (p.Met256Ile)
|
|
|
|
NM_152393.4(KLHL40):c.776A>C (p.Asp259Ala)
|
rs2125844799
|
|
|
NM_152393.4(KLHL40):c.77T>G (p.Met26Arg)
|
|
|
|
NM_152393.4(KLHL40):c.780A>C (p.Ala260=)
|
|
|
|
NM_152393.4(KLHL40):c.785A>T (p.Glu262Val)
|
rs2125844806
|
|
|
NM_152393.4(KLHL40):c.798C>A (p.Thr266=)
|
rs1483236529
|
|
|
NM_152393.4(KLHL40):c.799A>T (p.Thr267Ser)
|
|
|
|
NM_152393.4(KLHL40):c.818dup (p.Lys275fs)
|
rs1575218831
|
|
|
NM_152393.4(KLHL40):c.851A>T (p.Asp284Val)
|
rs1697275753
|
|
|
NM_152393.4(KLHL40):c.85C>T (p.His29Tyr)
|
rs370340355
|
|
|
NM_152393.4(KLHL40):c.879G>A (p.Glu293=)
|
|
|
|
NM_152393.4(KLHL40):c.887AGG[1] (p.Glu297del)
|
rs1575218907
|
|
|
NM_152393.4(KLHL40):c.892G>T (p.Ala298Ser)
|
rs777146142
|
|
|
NM_152393.4(KLHL40):c.901A>G (p.Ile301Val)
|
|
|
|
NM_152393.4(KLHL40):c.928del (p.Leu310fs)
|
rs1055019439
|
|
|
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)
|
rs763283033
|
|
|
NM_152393.4(KLHL40):c.93G>T (p.Lys31Asn)
|
|
|
|
NM_152393.4(KLHL40):c.976G>A (p.Glu326Lys)
|
rs1697277396
|
|
|
NM_152393.4(KLHL40):c.981C>A (p.Gly327=)
|
|
|
|
NM_152393.4(KLHL40):c.981C>T (p.Gly327=)
|
rs1251409080
|
|
|
NM_152393.4(KLHL40):c.997C>G (p.Pro333Ala)
|
rs1360434714
|
|
|
NM_198271.5(LMOD3):c.1011T>C (p.Asn337=)
|
|
|
|
NM_198271.5(LMOD3):c.1015A>G (p.Thr339Ala)
|
rs1273623485
|
|
|
NM_198271.5(LMOD3):c.1017G>A (p.Thr339=)
|
|
|
|
NM_198271.5(LMOD3):c.102del (p.Glu34fs)
|
rs2092412254
|
|
|
NM_198271.5(LMOD3):c.1030C>T (p.Arg344Trp)
|
rs778824655
|
|
|
NM_198271.5(LMOD3):c.1052T>C (p.Met351Thr)
|
|
|
|
NM_198271.5(LMOD3):c.1056G>A (p.Leu352=)
|
|
|
|
NM_198271.5(LMOD3):c.1079T>C (p.Ile360Thr)
|
rs1559661751
|
|
|
NM_198271.5(LMOD3):c.1081G>A (p.Ala361Thr)
|
rs2092394013
|
|
|
NM_198271.5(LMOD3):c.1088T>G (p.Leu363Arg)
|
|
|
|
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs)
|
rs727502799
|
|
|
NM_198271.5(LMOD3):c.1100ACA[1] (p.Asn368del)
|
rs727502798
|
|
|
NM_198271.5(LMOD3):c.110C>T (p.Ser37Leu)
|
rs572092252
|
|
|
NM_198271.5(LMOD3):c.1111C>A (p.Leu371Met)
|
rs546583536
|
|
|
NM_198271.5(LMOD3):c.1111C>G (p.Leu371Val)
|
rs546583536
|
|
|
NM_198271.5(LMOD3):c.112G>T (p.Glu38Ter)
|
|
|
|
NM_198271.5(LMOD3):c.1140G>A (p.Pro380=)
|
|
|
|
NM_198271.5(LMOD3):c.114A>G (p.Glu38=)
|
rs2107528263
|
|
|
NM_198271.5(LMOD3):c.1157T>C (p.Val386Ala)
|
rs2107526166
|
|
|
NM_198271.5(LMOD3):c.1158C>T (p.Val386=)
|
|
|
|
NM_198271.5(LMOD3):c.1160C>T (p.Thr387Ile)
|
rs758062503
|
|
|
NM_198271.5(LMOD3):c.1167_1169del (p.Leu390del)
|
rs777461365
|
|
|
NM_198271.5(LMOD3):c.116T>C (p.Met39Thr)
|
|
|
|
NM_198271.5(LMOD3):c.117G>C (p.Met39Ile)
|
rs2092411983
|
|
|
NM_198271.5(LMOD3):c.1189C>G (p.Gln397Glu)
|
rs1286766855
|
|
|
NM_198271.5(LMOD3):c.1192del (p.Arg398fs)
|
rs2107526137
|
|
|
NM_198271.5(LMOD3):c.1194G>C (p.Arg398Ser)
|
rs1291539118
|
|
|
NM_198271.5(LMOD3):c.1196A>G (p.Gln399Arg)
|
rs2092392939
|
|
|
NM_198271.5(LMOD3):c.1200A>G (p.Lys400=)
|
rs2107526132
|
|
|
NM_198271.5(LMOD3):c.1219C>T (p.Gln407Ter)
|
rs2107526111
|
|
|
NM_198271.5(LMOD3):c.1230C>G (p.Leu410=)
|
|
|
|
NM_198271.5(LMOD3):c.1230C>T (p.Leu410=)
|
|
|
|
NM_198271.5(LMOD3):c.1232A>G (p.Lys411Arg)
|
|
|
|
NM_198271.5(LMOD3):c.1234G>A (p.Glu412Lys)
|
rs2107526085
|
|
|
NM_198271.5(LMOD3):c.1252G>A (p.Ala418Thr)
|
|
|
|
NM_198271.5(LMOD3):c.1256T>C (p.Met419Thr)
|
rs2092392431
|
|
|
NM_198271.5(LMOD3):c.1259T>C (p.Leu420Ser)
|
rs1553687786
|
|
|
NM_198271.5(LMOD3):c.1268G>C (p.Gly423Ala)
|
|
|
|
NM_198271.5(LMOD3):c.1280C>T (p.Pro427Leu)
|
rs766271038
|
|
|
NM_198271.5(LMOD3):c.1281C>G (p.Pro427=)
|
rs1575879433
|
|
|
NM_198271.5(LMOD3):c.1296G>A (p.Glu432=)
|
|
|
|
NM_198271.5(LMOD3):c.1312A>G (p.Lys438Glu)
|
|
|
|
NM_198271.5(LMOD3):c.1318G>A (p.Asp440Asn)
|
|
|
|
NM_198271.5(LMOD3):c.1330C>T (p.Gln444Ter)
|
|
|
|
NM_198271.5(LMOD3):c.1332G>T (p.Gln444His)
|
rs765589286
|
|
|
NM_198271.5(LMOD3):c.1336T>C (p.Phe446Leu)
|
|
|
|
NM_198271.5(LMOD3):c.1338C>T (p.Phe446=)
|
rs771460251
|
|
|
NM_198271.5(LMOD3):c.1341C>T (p.Phe447=)
|
rs747539477
|
|
|
NM_198271.5(LMOD3):c.1348C>T (p.Pro450Ser)
|
rs748532243
|
|
|
NM_198271.5(LMOD3):c.1353A>C (p.Pro451=)
|
rs756048205
|
|
|
NM_198271.5(LMOD3):c.1355C>G (p.Pro452Arg)
|
|
|
|
NM_198271.5(LMOD3):c.1379T>C (p.Val460Ala)
|
rs1310959515
|
|
|
NM_198271.5(LMOD3):c.137C>T (p.Pro46Leu)
|
|
|
|
NM_198271.5(LMOD3):c.1381C>T (p.Pro461Ser)
|
|
|
|
NM_198271.5(LMOD3):c.138C>T (p.Pro46=)
|
rs776597543
|
|
|
NM_198271.5(LMOD3):c.1403T>A (p.Met468Lys)
|
rs2107525869
|
|
|
NM_198271.5(LMOD3):c.1416A>T (p.Pro472=)
|
rs563513367
|
|
|
NM_198271.5(LMOD3):c.1419G>T (p.Ser473=)
|
rs373942606
|
|
|
NM_198271.5(LMOD3):c.1449C>A (p.Asp483Glu)
|
rs2092390552
|
|
|
NM_198271.5(LMOD3):c.1449C>T (p.Asp483=)
|
rs2092390552
|
|
|
NM_198271.5(LMOD3):c.1455C>T (p.Phe485=)
|
rs774967350
|
|
|
NM_198271.5(LMOD3):c.1456C>G (p.Arg486Gly)
|
rs769492984
|
|
|
NM_198271.5(LMOD3):c.1456C>T (p.Arg486Trp)
|
rs769492984
|
|
|
NM_198271.5(LMOD3):c.1472dup (p.Arg492fs)
|
rs2107525795
|
|
|
NM_198271.5(LMOD3):c.1483C>A (p.Arg495Ser)
|
rs749726841
|
|
|
NM_198271.5(LMOD3):c.1483C>T (p.Arg495Cys)
|
rs749726841
|
|
|
NM_198271.5(LMOD3):c.1484G>T (p.Arg495Leu)
|
rs780071005
|
|
|
NM_198271.5(LMOD3):c.1492C>T (p.Arg498Trp)
|
|
|
|
NM_198271.5(LMOD3):c.149T>A (p.Val50Glu)
|
rs2092411499
|
|
|
NM_198271.5(LMOD3):c.1529A>C (p.Asn510Thr)
|
rs538402410
|
|
|
NM_198271.5(LMOD3):c.1529A>G (p.Asn510Ser)
|
|
|
|
NM_198271.5(LMOD3):c.1533C>T (p.Leu511=)
|
|
|
|
NM_198271.5(LMOD3):c.1540G>A (p.Val514Ile)
|
rs2107525731
|
|
|
NM_198271.5(LMOD3):c.154del (p.Gly51_Met52insTer)
|
rs1369933918
|
|
|
NM_198271.5(LMOD3):c.1550C>T (p.Thr517Met)
|
rs778825271
|
|
|
NM_198271.5(LMOD3):c.1551G>T (p.Thr517=)
|
|
|
|
NM_198271.5(LMOD3):c.1566G>A (p.Pro522=)
|
|
|
|
NM_198271.5(LMOD3):c.1579C>A (p.Pro527Thr)
|
rs373480967
|
|
|
NM_198271.5(LMOD3):c.1581C>T (p.Pro527=)
|
|
|
|
NM_198271.5(LMOD3):c.1593A>C (p.Glu531Asp)
|
rs749113549
|
|
|
NM_198271.5(LMOD3):c.1598C>T (p.Thr533Ile)
|
rs2092389118
|
|
|
NM_198271.5(LMOD3):c.1600C>G (p.Pro534Ala)
|
rs2092389107
|
|
|
NM_198271.5(LMOD3):c.1606G>C (p.Asp536His)
|
rs536143048
|
|
|
NM_198271.5(LMOD3):c.1607A>T (p.Asp536Val)
|
|
|
|
NM_198271.5(LMOD3):c.160C>G (p.Gln54Glu)
|
rs780274932
|
|
|
NM_198271.5(LMOD3):c.1621G>A (p.Asp541Asn)
|
|
|
|
NM_198271.5(LMOD3):c.1641C>A (p.Val547=)
|
|
|
|
NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe)
|
rs1057519128
|
|
|
NM_198271.5(LMOD3):c.1656+12G>T
|
|
|
|
NM_198271.5(LMOD3):c.1656+9A>G
|
|
|
|
NM_198271.5(LMOD3):c.1661A>G (p.Gln554Arg)
|
rs2092336742
|
|
|
NM_198271.5(LMOD3):c.1667C>G (p.Pro556Arg)
|
|
|
|
NM_198271.5(LMOD3):c.1670A>C (p.Lys557Thr)
|
rs2092336619
|
|
|
NM_198271.5(LMOD3):c.1673A>C (p.Glu558Ala)
|
rs562551827
|
|
|
NM_198271.5(LMOD3):c.1676_1677del (p.Leu559fs)
|
rs2092336582
|
|
|
NM_198271.5(LMOD3):c.1680G>T (p.Ala560=)
|
|
|
|
NM_198271.5(LMOD3):c.1681dup (p.Ter561LeuextTer?)
|
rs1575869958
|
|
|
NM_198271.5(LMOD3):c.169C>A (p.Gln57Lys)
|
rs1559663262
|
|
|
NM_198271.5(LMOD3):c.17G>C (p.Arg6Thr)
|
rs1185485203
|
|
|
NM_198271.5(LMOD3):c.17G>T (p.Arg6Ile)
|
|
|
|
NM_198271.5(LMOD3):c.186G>A (p.Pro62=)
|
rs757791893
|
|
|
NM_198271.5(LMOD3):c.200A>G (p.Asn67Ser)
|
rs570247132
|
|
|
NM_198271.5(LMOD3):c.203A>G (p.His68Arg)
|
rs752432695
|
|
|
NM_198271.5(LMOD3):c.226T>C (p.Tyr76His)
|
|
|
|
NM_198271.5(LMOD3):c.230G>T (p.Trp77Leu)
|
rs2092410842
|
|
|
NM_198271.5(LMOD3):c.252_253delinsAA (p.Met84_Leu85delinsIleMet)
|
rs1553688177
|
|
|
NM_198271.5(LMOD3):c.263A>T (p.Glu88Val)
|
rs1289180080
|
|
|
NM_198271.5(LMOD3):c.265C>A (p.Arg89=)
|
|
|
|
NM_198271.5(LMOD3):c.26A>G (p.Asp9Gly)
|
|
|
|
NM_198271.5(LMOD3):c.272C>T (p.Pro91Leu)
|
|
|
|
NM_198271.5(LMOD3):c.276C>T (p.Val92=)
|
rs1436647116
|
|
|
NM_198271.5(LMOD3):c.278_288del (p.Thr93fs)
|
|
|
|
NM_198271.5(LMOD3):c.294+15G>A
|
rs200811551
|
|
|
NM_198271.5(LMOD3):c.294+20C>T
|
|
|
|
NM_198271.5(LMOD3):c.294+7A>G
|
|
|
|
NM_198271.5(LMOD3):c.295-14A>T
|
|
|
|
NM_198271.5(LMOD3):c.295-20C>G
|
|
|
|
NM_198271.5(LMOD3):c.307G>A (p.Glu103Lys)
|
|
|
|
NM_198271.5(LMOD3):c.312G>A (p.Glu104=)
|
|
|
|
NM_198271.5(LMOD3):c.362_366del (p.Glu121fs)
|
rs1274699363
|
|
|
NM_198271.5(LMOD3):c.369C>T (p.Leu123=)
|
rs2092399816
|
|
|
NM_198271.5(LMOD3):c.370A>G (p.Asn124Asp)
|
|
|
|
NM_198271.5(LMOD3):c.385G>T (p.Ala129Ser)
|
rs1392468825
|
|
|
NM_198271.5(LMOD3):c.390T>G (p.Asn130Lys)
|
rs190846774
|
|
|
NM_198271.5(LMOD3):c.39_41del (p.Leu14del)
|
rs139192915
|
|
|
NM_198271.5(LMOD3):c.400T>C (p.Ser134Pro)
|
rs1283065889
|
|
|
NM_198271.5(LMOD3):c.403A>C (p.Lys135Gln)
|
|
|
|
NM_198271.5(LMOD3):c.410G>A (p.Ser137Asn)
|
rs1452040409
|
|
|
NM_198271.5(LMOD3):c.413G>A (p.Ser138Asn)
|
rs2092399518
|
|
|
NM_198271.5(LMOD3):c.413G>T (p.Ser138Ile)
|
rs2092399518
|
|
|
NM_198271.5(LMOD3):c.417T>C (p.Asn139=)
|
rs2107526866
|
|
|
NM_198271.5(LMOD3):c.426A>C (p.Glu142Asp)
|
rs111848977
|
|
|
NM_198271.5(LMOD3):c.426A>G (p.Glu142=)
|
rs111848977
|
|
|
NM_198271.5(LMOD3):c.430G>A (p.Asp144Asn)
|
|
|
|
NM_198271.5(LMOD3):c.432TGAAGAAGA[1] (p.144DEE[1])
|
rs1179727503
|
|
|
NM_198271.5(LMOD3):c.435A>G (p.Glu145=)
|
rs2107526854
|
|
|
NM_198271.5(LMOD3):c.43G>A (p.Asp15Asn)
|
|
|
|
NM_198271.5(LMOD3):c.43G>C (p.Asp15His)
|
rs762330680
|
|
|
NM_198271.5(LMOD3):c.441_443del (p.Asp147del)
|
rs2107526849
|
|
|
NM_198271.5(LMOD3):c.444AGA[2] (p.Glu150_Glu151del)
|
rs753459417
|
|
|
NM_198271.5(LMOD3):c.444AGA[3] (p.Glu151del)
|
rs753459417
|
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NM_198271.5(LMOD3):c.444AGA[5] (p.Glu151dup)
|
rs753459417
|
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NM_198271.5(LMOD3):c.450A>G (p.Glu150=)
|
rs1575881414
|
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NM_198271.5(LMOD3):c.453_458del (p.Glu151_Asp152del)
|
rs2092399265
|
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|
NM_198271.5(LMOD3):c.456T>A (p.Asp152Glu)
|
rs1388186593
|
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NM_198271.5(LMOD3):c.456TGA[3] (p.Asp157del)
|
rs752238157
|
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NM_198271.5(LMOD3):c.456TGA[5] (p.Asp157_Glu158insAsp)
|
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NM_198271.5(LMOD3):c.456TGA[7] (p.Asp155_Asp157dup)
|
rs752238157
|
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NM_198271.5(LMOD3):c.459T>C (p.Asp153=)
|
rs557184030
|
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NM_198271.5(LMOD3):c.465T>C (p.Asp155=)
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NM_198271.5(LMOD3):c.468C>A (p.Asp156Glu)
|
rs537602397
|
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NM_198271.5(LMOD3):c.468C>T (p.Asp156=)
|
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|
NM_198271.5(LMOD3):c.468CGA[1] (p.Asp157del)
|
rs759855873
|
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|
NM_198271.5(LMOD3):c.46GAG[1] (p.Glu17del)
|
rs770015687
|
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|
NM_198271.5(LMOD3):c.471C>T (p.Asp157=)
|
rs568706767
|
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NM_198271.5(LMOD3):c.474A>T (p.Glu158Asp)
|
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|
NM_198271.5(LMOD3):c.476del (p.Gly159fs)
|
rs1426709672
|
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NM_198271.5(LMOD3):c.481G>A (p.Asp161Asn)
|
rs1019240148
|
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NM_198271.5(LMOD3):c.48G>A (p.Glu16=)
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NM_198271.5(LMOD3):c.506C>G (p.Thr169Arg)
|
rs181564355
|
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NM_198271.5(LMOD3):c.507G>A (p.Thr169=)
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NM_198271.5(LMOD3):c.521A>T (p.Glu174Val)
|
rs1559662229
|
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NM_198271.5(LMOD3):c.523G>A (p.Gly175Ser)
|
rs2092398483
|
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NM_198271.5(LMOD3):c.534G>A (p.Lys178=)
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NM_198271.5(LMOD3):c.545G>T (p.Arg182Ile)
|
rs2107526736
|
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NM_198271.5(LMOD3):c.547A>G (p.Asn183Asp)
|
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NM_198271.5(LMOD3):c.563G>A (p.Cys188Tyr)
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NM_198271.5(LMOD3):c.56A>G (p.Asn19Ser)
|
rs769663073
|
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NM_198271.5(LMOD3):c.611A>T (p.Glu204Val)
|
rs2107526679
|
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NM_198271.5(LMOD3):c.633A>C (p.Lys211Asn)
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NM_198271.5(LMOD3):c.636A>G (p.Lys212=)
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NM_198271.5(LMOD3):c.637dup (p.Ile213fs)
|
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NM_198271.5(LMOD3):c.63T>C (p.Asp21=)
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NM_198271.5(LMOD3):c.641C>T (p.Ser214Leu)
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|
NM_198271.5(LMOD3):c.667C>G (p.Leu223Val)
|
rs2092397307
|
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NM_198271.5(LMOD3):c.671A>G (p.Asp224Gly)
|
rs898638017
|
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NM_198271.5(LMOD3):c.675C>G (p.Thr225=)
|
rs1006337657
|
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NM_198271.5(LMOD3):c.685A>G (p.Lys229Glu)
|
rs2107526606
|
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NM_198271.5(LMOD3):c.695C>T (p.Thr232Ile)
|
rs2107526596
|
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NM_198271.5(LMOD3):c.704C>G (p.Ser235Ter)
|
rs2092396963
|
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NM_198271.5(LMOD3):c.723_733del (p.Asp242fs)
|
rs769824247
|
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NM_198271.5(LMOD3):c.761A>G (p.Asp254Gly)
|
rs905218627
|
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NM_198271.5(LMOD3):c.777C>A (p.Asn259Lys)
|
rs2107526531
|
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NM_198271.5(LMOD3):c.779T>C (p.Leu260Pro)
|
rs1553687898
|
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NM_198271.5(LMOD3):c.780del (p.Asn261fs)
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NM_198271.5(LMOD3):c.788T>C (p.Ile263Thr)
|
rs9835034
|
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NM_198271.5(LMOD3):c.78C>T (p.Asn26=)
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NM_198271.5(LMOD3):c.806A>G (p.Glu269Gly)
|
rs2107526495
|
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NM_198271.5(LMOD3):c.80_95del (p.Asn26_Leu27insTer)
|
rs1212229943
|
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NM_198271.5(LMOD3):c.839A>G (p.Lys280Arg)
|
rs1435079305
|
|
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NM_198271.5(LMOD3):c.843C>T (p.Asn281=)
|
rs1268359340
|
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NM_198271.5(LMOD3):c.861C>T (p.Phe287=)
|
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NM_198271.5(LMOD3):c.862A>C (p.Ser288Arg)
|
rs2092395759
|
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NM_198271.5(LMOD3):c.870C>A (p.Ala290=)
|
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NM_198271.5(LMOD3):c.872A>C (p.Asn291Thr)
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NM_198271.5(LMOD3):c.875T>C (p.Val292Ala)
|
rs1575880432
|
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NM_198271.5(LMOD3):c.882dup (p.Asp295fs)
|
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NM_198271.5(LMOD3):c.89A>C (p.Glu30Ala)
|
rs1314021691
|
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NM_198271.5(LMOD3):c.961T>C (p.Phe321Leu)
|
rs2092395041
|
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NM_198271.5(LMOD3):c.96G>T (p.Leu32=)
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NM_198271.5(LMOD3):c.971del (p.Gly324fs)
|
rs2107526351
|
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NM_198271.5(LMOD3):c.976G>C (p.Gly326Arg)
|
rs2107526347
|
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NM_198271.5(LMOD3):c.980T>C (p.Ile327Thr)
|
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NM_198271.5(LMOD3):c.985G>A (p.Ala329Thr)
|
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NM_198271.5(LMOD3):c.990C>A (p.Ile330=)
|
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NM_198271.5(LMOD3):c.990C>G (p.Ile330Met)
|
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|
NM_198859.4(PRICKLE2):c.1006C>T (p.Arg336Cys)
|
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|
NM_198859.4(PRICKLE2):c.1007G>A (p.Arg336His)
|
rs147289291
|
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NM_198859.4(PRICKLE2):c.1007G>T (p.Arg336Leu)
|
rs147289291
|
|
|
NM_198859.4(PRICKLE2):c.1010G>A (p.Ser337Asn)
|
rs750388947
|
|
|
NM_198859.4(PRICKLE2):c.1010G>C (p.Ser337Thr)
|
rs750388947
|
|
|
NM_198859.4(PRICKLE2):c.1033G>A (p.Gly345Ser)
|
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|
NM_198859.4(PRICKLE2):c.1055T>G (p.Leu352Arg)
|
|
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|
NM_198859.4(PRICKLE2):c.1059C>A (p.Asn353Lys)
|
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NM_198859.4(PRICKLE2):c.1090C>T (p.Arg364Trp)
|
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|
NM_198859.4(PRICKLE2):c.1091G>C (p.Arg364Pro)
|
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NM_198859.4(PRICKLE2):c.1116G>A (p.Leu372=)
|
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NM_198859.4(PRICKLE2):c.1120C>T (p.Leu374=)
|
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NM_198859.4(PRICKLE2):c.1143G>A (p.Leu381=)
|
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|
NM_198859.4(PRICKLE2):c.1158C>A (p.Pro386=)
|
rs766760309
|
|
|
NM_198859.4(PRICKLE2):c.1175C>A (p.Pro392His)
|
rs2077472798
|
|
|
NM_198859.4(PRICKLE2):c.1184G>A (p.Arg395Lys)
|
rs772212890
|
|
|
NM_198859.4(PRICKLE2):c.1185G>A (p.Arg395=)
|
rs1426180064
|
|
|
NM_198859.4(PRICKLE2):c.1189C>T (p.Arg397Trp)
|
|
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|
NM_198859.4(PRICKLE2):c.1208A>T (p.Tyr403Phe)
|
|
|
|
NM_198859.4(PRICKLE2):c.1241G>A (p.Ser414Asn)
|
rs2077471786
|
|
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NM_198859.4(PRICKLE2):c.1254C>G (p.Leu418=)
|
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|
NM_198859.4(PRICKLE2):c.126G>A (p.Pro42=)
|
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NM_198859.4(PRICKLE2):c.1275A>G (p.Arg425=)
|
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NM_198859.4(PRICKLE2):c.1290A>G (p.Pro430=)
|
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|
NM_198859.4(PRICKLE2):c.1310C>T (p.Ala437Val)
|
rs769254046
|
|
|
NM_198859.4(PRICKLE2):c.1316C>T (p.Pro439Leu)
|
rs2107015374
|
|
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NM_198859.4(PRICKLE2):c.1317C>T (p.Pro439=)
|
rs745530308
|
|
|
NM_198859.4(PRICKLE2):c.1322T>A (p.Met441Lys)
|
rs770462303
|
|
|
NM_198859.4(PRICKLE2):c.1328G>A (p.Gly443Asp)
|
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NM_198859.4(PRICKLE2):c.1330A>G (p.Lys444Glu)
|
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|
NM_198859.4(PRICKLE2):c.1352G>A (p.Arg451Lys)
|
rs2077469469
|
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NM_198859.4(PRICKLE2):c.1362A>C (p.Ser454=)
|
|
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|
NM_198859.4(PRICKLE2):c.1369A>C (p.Met457Leu)
|
rs2107015250
|
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|
NM_198859.4(PRICKLE2):c.1376G>T (p.Gly459Val)
|
|
|
|
NM_198859.4(PRICKLE2):c.1414T>C (p.Tyr472His)
|
|
|
|
NM_198859.4(PRICKLE2):c.1421C>T (p.Pro474Leu)
|
rs1292913892
|
|
|
NM_198859.4(PRICKLE2):c.144+12G>T
|
|
|
|
NM_198859.4(PRICKLE2):c.144+6A>G
|
rs2107115161
|
|
|
NM_198859.4(PRICKLE2):c.1445G>A (p.Ser482Asn)
|
rs2107015068
|
|
|
NM_198859.4(PRICKLE2):c.1449C>T (p.Tyr483=)
|
|
|
|
NM_198859.4(PRICKLE2):c.145-15C>T
|
|
|
|
NM_198859.4(PRICKLE2):c.1476T>C (p.Ser492=)
|
rs2107015019
|
|
|
NM_198859.4(PRICKLE2):c.1482C>T (p.Thr494=)
|
|
|
|
NM_198859.4(PRICKLE2):c.1512G>A (p.Glu504=)
|
|
|
|
NM_198859.4(PRICKLE2):c.1512G>C (p.Glu504Asp)
|
|
|
|
NM_198859.4(PRICKLE2):c.1514AGGAAG[2] (p.Glu509_Glu510del)
|
rs759955615
|
|
|
NM_198859.4(PRICKLE2):c.1532G>A (p.Gly511Glu)
|
rs755987796
|
|
|
NM_198859.4(PRICKLE2):c.1534G>T (p.Gly512Cys)
|
|
|
|
NM_198859.4(PRICKLE2):c.1543A>G (p.Thr515Ala)
|
|
|
|
NM_198859.4(PRICKLE2):c.1545T>C (p.Thr515=)
|
rs747702861
|
|
|
NM_198859.4(PRICKLE2):c.1556G>A (p.Arg519Gln)
|
|
|
|
NM_198859.4(PRICKLE2):c.1557G>A (p.Arg519=)
|
rs2107014820
|
|
|
NM_198859.4(PRICKLE2):c.1560C>G (p.Thr520=)
|
rs2107014810
|
|
|
NM_198859.4(PRICKLE2):c.1562G>A (p.Arg521His)
|
|
|
|
NM_198859.4(PRICKLE2):c.1584A>G (p.Lys528=)
|
rs2077464539
|
|
|
NM_198859.4(PRICKLE2):c.1621C>T (p.Arg541Trp)
|
rs372400638
|
|
|
NM_198859.4(PRICKLE2):c.1625G>T (p.Gly542Val)
|
|
|
|
NM_198859.4(PRICKLE2):c.163T>A (p.Cys55Ser)
|
rs781210176
|
|
|
NM_198859.4(PRICKLE2):c.163T>C (p.Cys55Arg)
|
rs781210176
|
|
|
NM_198859.4(PRICKLE2):c.1643C>A (p.Ala548Asp)
|
|
|
|
NM_198859.4(PRICKLE2):c.1650T>C (p.Ser550=)
|
|
|
|
NM_198859.4(PRICKLE2):c.1660+14A>G
|
rs549966146
|
|
|
NM_198859.4(PRICKLE2):c.1676GTG[1] (p.Gly560del)
|
|
|
|
NM_198859.4(PRICKLE2):c.1679G>C (p.Gly560Ala)
|
rs749378051
|
|
|
NM_198859.4(PRICKLE2):c.1681G>A (p.Ala561Thr)
|
|
|
|
NM_198859.4(PRICKLE2):c.1722C>G (p.Asp574Glu)
|
|
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|
NM_198859.4(PRICKLE2):c.1747G>A (p.Val583Met)
|
|
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|
NM_198859.4(PRICKLE2):c.1785G>A (p.Ser595=)
|
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|
|
NM_198859.4(PRICKLE2):c.1797C>A (p.Phe599Leu)
|
rs2076625828
|
|
|
NM_198859.4(PRICKLE2):c.1798C>T (p.Arg600Trp)
|
|
|
|
NM_198859.4(PRICKLE2):c.17C>T (p.Pro6Leu)
|
|
|
|
NM_198859.4(PRICKLE2):c.1809G>C (p.Glu603Asp)
|
rs768820914
|
|
|
NM_198859.4(PRICKLE2):c.1817G>A (p.Arg606His)
|
|
|
|
NM_198859.4(PRICKLE2):c.1832C>A (p.Ala611Asp)
|
|
|
|
NM_198859.4(PRICKLE2):c.1837C>A (p.Gln613Lys)
|
rs2076625078
|
|
|
NM_198859.4(PRICKLE2):c.1850T>C (p.Met617Thr)
|
rs2076624835
|
|
|
NM_198859.4(PRICKLE2):c.1862_1864del (p.Leu621del)
|
rs2076624394
|
|
|
NM_198859.4(PRICKLE2):c.188A>T (p.Tyr63Phe)
|
rs2077761285
|
|
|
NM_198859.4(PRICKLE2):c.1903T>C (p.Ser635Pro)
|
rs775727925
|
|
|
NM_198859.4(PRICKLE2):c.1907A>T (p.His636Leu)
|
|
|
|
NM_198859.4(PRICKLE2):c.1914G>T (p.Arg638Ser)
|
|
|
|
NM_198859.4(PRICKLE2):c.1942G>C (p.Gly648Arg)
|
rs2076623046
|
|
|
NM_198859.4(PRICKLE2):c.1943G>T (p.Gly648Val)
|
rs894055397
|
|
|
NM_198859.4(PRICKLE2):c.1944G>C (p.Gly648=)
|
rs2076622893
|
|
|
NM_198859.4(PRICKLE2):c.1949C>T (p.Ala650Val)
|
rs747788121
|
|
|
NM_198859.4(PRICKLE2):c.1959G>A (p.Lys653=)
|
rs1449765785
|
|
|
NM_198859.4(PRICKLE2):c.1963C>G (p.Pro655Ala)
|
|
|
|
NM_198859.4(PRICKLE2):c.1976G>A (p.Gly659Asp)
|
rs2076622017
|
|
|
NM_198859.4(PRICKLE2):c.1977C>G (p.Gly659=)
|
rs376252127
|
|
|
NM_198859.4(PRICKLE2):c.2003G>A (p.Arg668His)
|
|
|
|
NM_198859.4(PRICKLE2):c.2009G>C (p.Arg670Pro)
|
rs747542060
|
|
|
NM_198859.4(PRICKLE2):c.2020A>G (p.Thr674Ala)
|
|
|
|
NM_198859.4(PRICKLE2):c.2031C>T (p.Asp677=)
|
|
|
|
NM_198859.4(PRICKLE2):c.2037C>T (p.Asn679=)
|
rs1575531163
|
|
|
NM_198859.4(PRICKLE2):c.2039G>C (p.Arg680Pro)
|
rs1308230146
|
|
|
NM_198859.4(PRICKLE2):c.2075G>A (p.Arg692His)
|
|
|
|
NM_198859.4(PRICKLE2):c.2078C>G (p.Ser693Cys)
|
|
|
|
NM_198859.4(PRICKLE2):c.2080C>A (p.Arg694Ser)
|
rs2076619764
|
|
|
NM_198859.4(PRICKLE2):c.2082C>T (p.Arg694=)
|
|
|
|
NM_198859.4(PRICKLE2):c.2114G>A (p.Arg705His)
|
|
|
|
NM_198859.4(PRICKLE2):c.2119G>A (p.Ala707Thr)
|
|
|
|
NM_198859.4(PRICKLE2):c.2121C>G (p.Ala707=)
|
rs1278527320
|
|
|
NM_198859.4(PRICKLE2):c.2121C>T (p.Ala707=)
|
|
|
|
NM_198859.4(PRICKLE2):c.2123T>A (p.Ile708Asn)
|
rs2076618722
|
|
|
NM_198859.4(PRICKLE2):c.2126C>T (p.Ser709Phe)
|
|
|
|
NM_198859.4(PRICKLE2):c.2127C>T (p.Ser709=)
|
rs2106935376
|
|
|
NM_198859.4(PRICKLE2):c.2129G>T (p.Arg710Leu)
|
rs772696632
|
|
|
NM_198859.4(PRICKLE2):c.215G>A (p.Arg72Gln)
|
rs1559550002
|
|
|
NM_198859.4(PRICKLE2):c.2160G>A (p.Arg720=)
|
rs1003980147
|
|
|
NM_198859.4(PRICKLE2):c.2164G>A (p.Asp722Asn)
|
|
|
|
NM_198859.4(PRICKLE2):c.2172C>T (p.Asp724=)
|
|
|
|
NM_198859.4(PRICKLE2):c.2173C>A (p.Gln725Lys)
|
|
|
|
NM_198859.4(PRICKLE2):c.2182C>T (p.Arg728Cys)
|
rs780553569
|
|
|
NM_198859.4(PRICKLE2):c.2183G>T (p.Arg728Leu)
|
|
|
|
NM_198859.4(PRICKLE2):c.2184C>A (p.Arg728=)
|
rs1262461948
|
|
|
NM_198859.4(PRICKLE2):c.2188C>T (p.Arg730Trp)
|
rs2076617456
|
|
|
NM_198859.4(PRICKLE2):c.2220C>T (p.Ser740=)
|
rs867670809
|
|
|
NM_198859.4(PRICKLE2):c.2222G>A (p.Arg741Gln)
|
|
|
|
NM_198859.4(PRICKLE2):c.222G>A (p.Lys74=)
|
rs2107045863
|
|
|
NM_198859.4(PRICKLE2):c.2234A>G (p.Tyr745Cys)
|
rs1387331875
|
|
|
NM_198859.4(PRICKLE2):c.2237G>T (p.Gly746Val)
|
rs1248829595
|
|
|
NM_198859.4(PRICKLE2):c.2244C>T (p.Cys748=)
|
rs2106935117
|
|
|
NM_198859.4(PRICKLE2):c.2245C>G (p.Pro749Ala)
|
rs2106935115
|
|
|
NM_198859.4(PRICKLE2):c.225G>A (p.Gln75=)
|
rs1575606617
|
|
|
NM_198859.4(PRICKLE2):c.2266G>A (p.Ala756Thr)
|
|
|
|
NM_198859.4(PRICKLE2):c.2273A>C (p.Gln758Pro)
|
rs2106935074
|
|
|
NM_198859.4(PRICKLE2):c.2274G>A (p.Gln758=)
|
rs2076615763
|
|
|
NM_198859.4(PRICKLE2):c.2283T>C (p.Phe761=)
|
rs1575530550
|
|
|
NM_198859.4(PRICKLE2):c.2296G>A (p.Gly766Arg)
|
|
|
|
NM_198859.4(PRICKLE2):c.2297G>T (p.Gly766Val)
|
|
|
|
NM_198859.4(PRICKLE2):c.2327C>G (p.Ser776Cys)
|
rs2076614473
|
|
|
NM_198859.4(PRICKLE2):c.2342C>T (p.Ser781Phe)
|
|
|
|
NM_198859.4(PRICKLE2):c.234C>G (p.His78Gln)
|
rs755337354
|
|
|
NM_198859.4(PRICKLE2):c.2352T>G (p.Ser784=)
|
|
|
|
NM_198859.4(PRICKLE2):c.2357A>G (p.Asn786Ser)
|
rs775899030
|
|
|
NM_198859.4(PRICKLE2):c.2358C>G (p.Asn786Lys)
|
rs765451868
|
|
|
NM_198859.4(PRICKLE2):c.2375G>A (p.Gly792Glu)
|
|
|
|
NM_198859.4(PRICKLE2):c.2381C>A (p.Pro794His)
|
|
|
|
NM_198859.4(PRICKLE2):c.2406A>G (p.Arg802=)
|
|
|
|
NM_198859.4(PRICKLE2):c.2416A>C (p.Ser806Arg)
|
|
|
|
NM_198859.4(PRICKLE2):c.2426T>G (p.Leu809Arg)
|
rs2106934819
|
|
|
NM_198859.4(PRICKLE2):c.2434A>G (p.Lys812Glu)
|
|
|
|
NM_198859.4(PRICKLE2):c.243G>A (p.Pro81=)
|
|
|
|
NM_198859.4(PRICKLE2):c.2441G>A (p.Ser814Asn)
|
|
|
|
NM_198859.4(PRICKLE2):c.2442C>T (p.Ser814=)
|
|
|
|
NM_198859.4(PRICKLE2):c.2445C>T (p.Ser815=)
|
rs1346052915
|
|
|
NM_198859.4(PRICKLE2):c.2455C>T (p.Pro819Ser)
|
rs972442832
|
|
|
NM_198859.4(PRICKLE2):c.2473G>C (p.Gly825Arg)
|
rs2106934728
|
|
|
NM_198859.4(PRICKLE2):c.2486A>G (p.Gln829Arg)
|
|
|
|
NM_198859.4(PRICKLE2):c.2493C>T (p.His831=)
|
rs2106934707
|
|
|
NM_198859.4(PRICKLE2):c.2517A>G (p.Lys839=)
|
|
|
|
NM_198859.4(PRICKLE2):c.2532T>C (p.Ser844=)
|
rs748122339
|
|
|
NM_198859.4(PRICKLE2):c.258+19C>T
|
|
|
|
NM_198859.4(PRICKLE2):c.258+5G>A
|
rs1368875653
|
|
|
NM_198859.4(PRICKLE2):c.258+8del
|
|
|
|
NM_198859.4(PRICKLE2):c.259-12G>T
|
rs751516474
|
|
|
NM_198859.4(PRICKLE2):c.263G>A (p.Arg88Gln)
|
|
|
|
NM_198859.4(PRICKLE2):c.308T>C (p.Leu103Pro)
|
rs2077706388
|
|
|
NM_198859.4(PRICKLE2):c.30G>A (p.Glu10=)
|
|
|
|
NM_198859.4(PRICKLE2):c.315C>T (p.Ser105=)
|
|
|
|
NM_198859.4(PRICKLE2):c.343C>T (p.Arg115Cys)
|
rs752616529
|
|
|
NM_198859.4(PRICKLE2):c.352G>A (p.Val118Ile)
|
rs2107039561
|
|
|
NM_198859.4(PRICKLE2):c.356G>C (p.Arg119Thr)
|
rs2077705419
|
|
|
NM_198859.4(PRICKLE2):c.366A>C (p.Pro122=)
|
rs1248570551
|
|
|
NM_198859.4(PRICKLE2):c.369C>T (p.Val123=)
|
rs1458439956
|
|
|
NM_198859.4(PRICKLE2):c.372C>T (p.Thr124=)
|
rs201949075
|
|
|
NM_198859.4(PRICKLE2):c.384_385delinsCT (p.Ile129Phe)
|
rs2107039475
|
|
|
NM_198859.4(PRICKLE2):c.391G>A (p.Glu131Lys)
|
rs1334482107
|
|
|
NM_198859.4(PRICKLE2):c.396+19G>A
|
|
|
|
NM_198859.4(PRICKLE2):c.396+19G>T
|
|
|
|
NM_198859.4(PRICKLE2):c.396+5G>A
|
rs2107039424
|
|
|
NM_198859.4(PRICKLE2):c.397-7C>T
|
rs1575600608
|
|
|
NM_198859.4(PRICKLE2):c.399C>T (p.Cys133=)
|
|
|
|
NM_198859.4(PRICKLE2):c.39C>G (p.Ile13Met)
|
|
|
|
NM_198859.4(PRICKLE2):c.413A>T (p.Asn138Ile)
|
rs1247504361
|
|
|
NM_198859.4(PRICKLE2):c.423C>A (p.Asp141Glu)
|
rs762381874
|
|
|
NM_198859.4(PRICKLE2):c.424A>G (p.Ile142Val)
|
|
|
|
NM_198859.4(PRICKLE2):c.445G>A (p.Ala149Thr)
|
rs202025796
|
|
|
NM_198859.4(PRICKLE2):c.447T>A (p.Ala149=)
|
rs2107034706
|
|
|
NM_198859.4(PRICKLE2):c.453C>T (p.His151=)
|
|
|
|
NM_198859.4(PRICKLE2):c.461G>T (p.Cys154Phe)
|
rs1553644844
|
|
|
NM_198859.4(PRICKLE2):c.479T>G (p.Phe160Cys)
|
|
|
|
NM_198859.4(PRICKLE2):c.489T>G (p.Thr163=)
|
rs2107034580
|
|
|
NM_198859.4(PRICKLE2):c.490G>A (p.Val164Ile)
|
rs886058801
|
|
|
NM_198859.4(PRICKLE2):c.49A>G (p.Met17Val)
|
rs762452354
|
|
|
NM_198859.4(PRICKLE2):c.504C>T (p.Leu168=)
|
rs1362874246
|
|
|
NM_198859.4(PRICKLE2):c.50T>G (p.Met17Arg)
|
|
|
|
NM_198859.4(PRICKLE2):c.541A>T (p.Ile181Leu)
|
rs1047934663
|
|
|
NM_198859.4(PRICKLE2):c.543A>T (p.Ile181=)
|
rs952961914
|
|
|
NM_198859.4(PRICKLE2):c.545A>T (p.Tyr182Phe)
|
rs1553644782
|
|
|
NM_198859.4(PRICKLE2):c.561T>C (p.His187=)
|
|
|
|
NM_198859.4(PRICKLE2):c.578C>T (p.Pro193Leu)
|
|
|
|
NM_198859.4(PRICKLE2):c.581G>A (p.Arg194His)
|
rs1553644768
|
|
|
NM_198859.4(PRICKLE2):c.585T>C (p.Cys195=)
|
rs2077648753
|
|
|
NM_198859.4(PRICKLE2):c.586G>A (p.Ala196Thr)
|
|
|
|
NM_198859.4(PRICKLE2):c.589G>A (p.Ala197Thr)
|
rs2107034360
|
|
|
NM_198859.4(PRICKLE2):c.607T>C (p.Phe203Leu)
|
|
|
|
NM_198859.4(PRICKLE2):c.633G>A (p.Glu211=)
|
|
|
|
NM_198859.4(PRICKLE2):c.649A>G (p.Met217Val)
|
rs2077576258
|
|
|
NM_198859.4(PRICKLE2):c.653A>G (p.Lys218Arg)
|
rs2077576224
|
|
|
NM_198859.4(PRICKLE2):c.661T>C (p.Cys221Arg)
|
|
|
|
NM_198859.4(PRICKLE2):c.670G>A (p.Glu224Lys)
|
rs1199006668
|
|
|
NM_198859.4(PRICKLE2):c.683T>C (p.Val228Ala)
|
rs2077575900
|
|
|
NM_198859.4(PRICKLE2):c.708G>C (p.Met236Ile)
|
rs2077575497
|
|
|
NM_198859.4(PRICKLE2):c.721C>A (p.Pro241Thr)
|
rs2077575277
|
|
|
NM_198859.4(PRICKLE2):c.732C>T (p.Cys244=)
|
rs1575596028
|
|
|
NM_198859.4(PRICKLE2):c.733C>A (p.His245Asn)
|
|
|
|
NM_198859.4(PRICKLE2):c.741C>G (p.Phe247Leu)
|
rs763876127
|
|
|
NM_198859.4(PRICKLE2):c.741C>T (p.Phe247=)
|
|
|
|
NM_198859.4(PRICKLE2):c.759A>G (p.Glu253=)
|
rs1422015238
|
|
|
NM_198859.4(PRICKLE2):c.762T>C (p.Tyr254=)
|
rs2077574651
|
|
|
NM_198859.4(PRICKLE2):c.780A>G (p.Gln260=)
|
|
|
|
NM_198859.4(PRICKLE2):c.781C>T (p.His261Tyr)
|
rs2107026575
|
|
|
NM_198859.4(PRICKLE2):c.788-28_788-20del
|
|
|
|
NM_198859.4(PRICKLE2):c.788-6T>G
|
rs180903875
|
|
|
NM_198859.4(PRICKLE2):c.793G>A (p.Asp265Asn)
|
rs1312810720
|
|
|
NM_198859.4(PRICKLE2):c.81T>C (p.Asp27=)
|
rs1435284437
|
|
|
NM_198859.4(PRICKLE2):c.837T>C (p.Thr279=)
|
rs1226884715
|
|
|
NM_198859.4(PRICKLE2):c.843C>A (p.Thr281=)
|
rs2107016324
|
|
|
NM_198859.4(PRICKLE2):c.860A>G (p.His287Arg)
|
rs1201078531
|
|
|
NM_198859.4(PRICKLE2):c.884G>A (p.Arg295Gln)
|
|
|
|
NM_198859.4(PRICKLE2):c.894C>A (p.Leu298=)
|
rs372232760
|
|
|
NM_198859.4(PRICKLE2):c.896C>T (p.Pro299Leu)
|
|
|
|
NM_198859.4(PRICKLE2):c.906C>A (p.Gly302=)
|
rs369079932
|
|
|
NM_198859.4(PRICKLE2):c.906C>G (p.Gly302=)
|
rs369079932
|
|
|
NM_198859.4(PRICKLE2):c.913T>G (p.Phe305Val)
|
rs2077478096
|
|
|
NM_198859.4(PRICKLE2):c.920C>G (p.Ser307Ter)
|
rs2077478027
|
|
|
NM_198859.4(PRICKLE2):c.961T>G (p.Ser321Ala)
|
|
|
|
NM_198859.4(PRICKLE2):c.97G>T (p.Ala33Ser)
|
|
|
|
NM_198859.4(PRICKLE2):c.983A>G (p.Asn328Ser)
|
rs2107016123
|
|
|
NM_198859.4(PRICKLE2):c.985G>C (p.Ala329Pro)
|
rs1447125975
|
|
|
NM_198859.4(PRICKLE2):c.98C>G (p.Ala33Gly)
|
rs2078512537
|
|
|
NM_198859.4(PRICKLE2):c.98C>T (p.Ala33Val)
|
|
|
|
NM_198859.4(PRICKLE2):c.991G>A (p.Ala331Thr)
|
rs1406891675
|
|
|
NM_198859.4(PRICKLE2):c.991G>C (p.Ala331Pro)
|
rs1406891675
|
|
|
NM_213720.3(CHCHD10):c.101C>T (p.Pro34Leu)
|
|
|
|
NM_213720.3(CHCHD10):c.103G>A (p.Ala35Thr)
|
|
|
|
NM_213720.3(CHCHD10):c.109G>A (p.Ala37Thr)
|
rs752472094
|
|
|
NM_213720.3(CHCHD10):c.116C>T (p.Ser39Leu)
|
rs1569151061
|
|
|
NM_213720.3(CHCHD10):c.129G>A (p.Gly43=)
|
|
|
|
NM_213720.3(CHCHD10):c.134T>A (p.Met45Lys)
|
|
|
|
NM_213720.3(CHCHD10):c.137C>A (p.Ala46Asp)
|
|
|
|
NM_213720.3(CHCHD10):c.146C>T (p.Ala49Val)
|
|
|
|
NM_213720.3(CHCHD10):c.157G>T (p.Ala53Ser)
|
|
|
|
NM_213720.3(CHCHD10):c.159A>G (p.Ala53=)
|
|
|
|
NM_213720.3(CHCHD10):c.161G>A (p.Gly54Glu)
|
|
|
|
NM_213720.3(CHCHD10):c.162G>T (p.Gly54=)
|
|
|
|
NM_213720.3(CHCHD10):c.168C>G (p.Ala56=)
|
rs13053635
|
|
|
NM_213720.3(CHCHD10):c.16C>A (p.Arg6Ser)
|
|
|
|
NM_213720.3(CHCHD10):c.190G>A (p.Val64Ile)
|
rs781304084
|
|
|
NM_213720.3(CHCHD10):c.197G>A (p.Gly66Asp)
|
rs730880031
|
|
|
NM_213720.3(CHCHD10):c.200G>A (p.Ser67Asn)
|
rs1926926045
|
|
|
NM_213720.3(CHCHD10):c.203C>T (p.Ala68Val)
|
rs1926925550
|
|
|
NM_213720.3(CHCHD10):c.207G>A (p.Leu69=)
|
|
|
|
NM_213720.3(CHCHD10):c.211G>A (p.Gly71Arg)
|
rs2145926804
|
|
|
NM_213720.3(CHCHD10):c.214G>C (p.Ala72Pro)
|
rs542541060
|
|
|
NM_213720.3(CHCHD10):c.215C>T (p.Ala72Val)
|
|
|
|
NM_213720.3(CHCHD10):c.21C>T (p.Ser7=)
|
rs984321947
|
|
|
NM_213720.3(CHCHD10):c.221G>A (p.Ser74Asn)
|
|
|
|
NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu)
|
rs767069606
|
|
|
NM_213720.3(CHCHD10):c.228G>T (p.Gly76=)
|
|
|
|
NM_213720.3(CHCHD10):c.231C>T (p.Ser77=)
|
|
|
|
NM_213720.3(CHCHD10):c.234G>C (p.Ser78=)
|
|
|
|
NM_213720.3(CHCHD10):c.235G>A (p.Glu79Lys)
|
rs1555925855
|
|
|
NM_213720.3(CHCHD10):c.241T>C (p.Ser81Pro)
|
|
|
|
NM_213720.3(CHCHD10):c.244C>T (p.Gln82Ter)
|
|
|
|
NM_213720.3(CHCHD10):c.24G>A (p.Ala8=)
|
rs1926992574
|
|
|
NM_213720.3(CHCHD10):c.250G>C (p.Ala84Pro)
|
|
|
|
NM_213720.3(CHCHD10):c.261+10G>C
|
|
|
|
NM_213720.3(CHCHD10):c.261+10_261+11delinsAG
|
|
|
|
NM_213720.3(CHCHD10):c.261+11_261+12delinsGC
|
|
|
|
NM_213720.3(CHCHD10):c.261+17A>G
|
rs754940184
|
|
|
NM_213720.3(CHCHD10):c.261+7A>G
|
rs2145926622
|
|
|
NM_213720.3(CHCHD10):c.262-11T>A
|
|
|
|
NM_213720.3(CHCHD10):c.262-14C>T
|
rs1419450340
|
|
|
NM_213720.3(CHCHD10):c.262-18C>T
|
|
|
|
NM_213720.3(CHCHD10):c.262-3C>G
|
rs867521564
|
|
|
NM_213720.3(CHCHD10):c.262-4C>G
|
|
|
|
NM_213720.3(CHCHD10):c.262G>T (p.Ala88Ser)
|
rs1926806684
|
|
|
NM_213720.3(CHCHD10):c.263C>A (p.Ala88Asp)
|
rs564469294
|
|
|
NM_213720.3(CHCHD10):c.267C>T (p.Pro89=)
|
|
|
|
NM_213720.3(CHCHD10):c.273C>A (p.Pro91=)
|
|
|
|
NM_213720.3(CHCHD10):c.274del (p.Ala92fs)
|
|
|
|
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=)
|
rs1252496774
|
|
|
NM_213720.3(CHCHD10):c.283C>T (p.Gln95Ter)
|
rs1926798746
|
|
|
NM_213720.3(CHCHD10):c.287C>G (p.Pro96Arg)
|
rs1348340557
|
|
|
NM_213720.3(CHCHD10):c.2T>G (p.Met1Arg)
|
rs1926995828
|
|
|
NM_213720.3(CHCHD10):c.302C>T (p.Pro101Leu)
|
rs776781535
|
|
|
NM_213720.3(CHCHD10):c.307G>A (p.Ala103Thr)
|
|
|
|
NM_213720.3(CHCHD10):c.308C>T (p.Ala103Val)
|
rs2145924358
|
|
|
NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter)
|
rs9153
|
|
|
NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter)
|
rs9153
|
|
|
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=)
|
rs9153
|
|
|
NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys)
|
|
|
|
NM_213720.3(CHCHD10):c.31C>G (p.Arg11Gly)
|
rs951686050
|
|
|
NM_213720.3(CHCHD10):c.322C>A (p.Gln108Lys)
|
|
|
|
NM_213720.3(CHCHD10):c.322C>T (p.Gln108Ter)
|
|
|
|
NM_213720.3(CHCHD10):c.331G>A (p.Asp111Asn)
|
|
|
|
NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly)
|
rs750293377
|
|
|
NM_213720.3(CHCHD10):c.334T>C (p.Cys112Arg)
|
rs964013488
|
|
|
NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys)
|
rs931085449
|
|
|
NM_213720.3(CHCHD10):c.350G>A (p.Ser117Asn)
|
rs1926782349
|
|
|
NM_213720.3(CHCHD10):c.354C>T (p.Asp118=)
|
|
|
|
NM_213720.3(CHCHD10):c.357G>T (p.Leu119=)
|
|
|
|
NM_213720.3(CHCHD10):c.359C>T (p.Ser120Phe)
|
|
|
|
NM_213720.3(CHCHD10):c.361C>T (p.Leu121=)
|
|
|
|
NM_213720.3(CHCHD10):c.364T>C (p.Cys122Arg)
|
|
|
|
NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn)
|
rs1601354726
|
|
|
NM_213720.3(CHCHD10):c.379G>A (p.Glu127Lys)
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NM_213720.3(CHCHD10):c.37G>A (p.Ala13Thr)
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NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro)
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rs1569149526
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NM_213720.3(CHCHD10):c.389A>G (p.Lys130Arg)
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rs2145924084
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NM_213720.3(CHCHD10):c.38C>T (p.Ala13Val)
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rs1926990244
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NM_213720.3(CHCHD10):c.394dup (p.Cys132fs)
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NM_213720.3(CHCHD10):c.395G>A (p.Cys132Tyr)
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NM_213720.3(CHCHD10):c.402C>A (p.Tyr134Ter)
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NM_213720.3(CHCHD10):c.409+11G>C
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NM_213720.3(CHCHD10):c.409+15C>G
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NM_213720.3(CHCHD10):c.409+17C>T
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NM_213720.3(CHCHD10):c.409+18G>A
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NM_213720.3(CHCHD10):c.41+17G>A
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NM_213720.3(CHCHD10):c.41+9G>A
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NM_213720.3(CHCHD10):c.410-13C>T
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NM_213720.3(CHCHD10):c.410-15C>G
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NM_213720.3(CHCHD10):c.410-3C>G
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NM_213720.3(CHCHD10):c.410-3C>T
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rs767630947
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NM_213720.3(CHCHD10):c.410-8del
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rs759453467
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NM_213720.3(CHCHD10):c.412C>T (p.Leu138=)
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NM_213720.3(CHCHD10):c.42-10A>G
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NM_213720.3(CHCHD10):c.42-15C>T
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NM_213720.3(CHCHD10):c.42-18T>C
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NM_213720.3(CHCHD10):c.42-4G>T
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NM_213720.3(CHCHD10):c.42-5C>G
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rs868345557
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NM_213720.3(CHCHD10):c.42-5C>T
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rs868345557
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NM_213720.3(CHCHD10):c.42-5del
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rs1926955562
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NM_213720.3(CHCHD10):c.42-6C>G
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NM_213720.3(CHCHD10):c.42-9C>T
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NM_213720.3(CHCHD10):c.424C>A (p.Pro142Thr)
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rs1294246273
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NM_213720.3(CHCHD10):c.42C>T (p.Ser14=)
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rs1447212146
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NM_213720.3(CHCHD10):c.43C>T (p.Arg15Cys)
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NM_213720.3(CHCHD10):c.44G>A (p.Arg15His)
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rs730880030
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NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)
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rs730880030
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NM_213720.3(CHCHD10):c.44_45delinsTT (p.Arg15Leu)
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rs2145927350
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NM_213720.3(CHCHD10):c.48A>T (p.Pro16=)
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NM_213720.3(CHCHD10):c.54G>A (p.Ala18=)
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rs1344583612
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NM_213720.3(CHCHD10):c.55C>T (p.Pro19Ser)
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rs1926950297
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NM_213720.3(CHCHD10):c.57C>T (p.Pro19=)
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rs1381948310
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NM_213720.3(CHCHD10):c.67C>A (p.Pro23Thr)
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NM_213720.3(CHCHD10):c.70C>T (p.Pro24Ser)
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rs917149626
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NM_213720.3(CHCHD10):c.75G>A (p.Ala25=)
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NM_213720.3(CHCHD10):c.75G>C (p.Ala25=)
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NM_213720.3(CHCHD10):c.76C>A (p.His26Asn)
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NM_213720.3(CHCHD10):c.84G>T (p.Pro28=)
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NM_213720.3(CHCHD10):c.86C>T (p.Pro29Leu)
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NM_213720.3(CHCHD10):c.8G>C (p.Arg3Pro)
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rs766426370
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NM_213720.3(CHCHD10):c.97G>C (p.Ala33Pro)
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NM_213720.3(CHCHD10):c.97G>T (p.Ala33Ser)
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NM_213720.3(CHCHD10):c.9G>A (p.Arg3=)
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rs1165025561
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Single allele
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