NM_032237.5(POMK):c.282+34C>A
|
rs5024011
|
0.99646
|
NM_021971.4(GMPPB):c.551A>G (p.Gln184Arg)
|
rs1466685
|
0.98834
|
NM_001077365.2(POMT1):c.856-49T>G
|
rs4740163
|
0.97653
|
NM_004393.6(DAG1):c.41C>G (p.Ser14Trp)
|
rs2131107
|
0.97526
|
NM_004393.6(DAG1):c.285+42T>C
|
rs2329024
|
0.97521
|
NM_000426.4(LAMA2):c.381C>A (p.Thr127=)
|
rs4404787
|
0.95273
|
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)
|
rs6659553
|
0.94881
|
NM_001077365.2(POMT1):c.986+49G>A
|
rs10901066
|
0.88278
|
NM_001077365.2(POMT1):c.876T>C (p.Thr292=)
|
rs10901065
|
0.88277
|
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=)
|
rs3739494
|
0.88273
|
NM_001077365.2(POMT1):c.428-21T>C
|
rs11243404
|
0.88267
|
NM_001077365.2(POMT1):c.700-48A>G
|
rs2018621
|
0.88264
|
NM_001077365.2(POMT1):c.*226T>C
|
rs3824395
|
0.88255
|
NM_001077365.2(POMT1):c.699+53A>G
|
rs2296949
|
0.88248
|
NM_001848.3(COL6A1):c.1335+27A>C
|
rs2850173
|
0.88231
|
NM_001077365.2(POMT1):c.*41T>C
|
rs3739495
|
0.88174
|
NM_001077365.2(POMT1):c.*278T>C
|
rs10793885
|
0.88104
|
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=)
|
rs594012
|
0.87913
|
NM_001848.3(COL6A1):c.2434+15A>G
|
rs2236485
|
0.87616
|
NM_016213.5(TRIP4):c.1596G>A (p.Glu532=)
|
rs7167612
|
0.87160
|
NM_001077365.2(POMT1):c.*348C>T
|
rs7857419
|
0.87122
|
NM_001848.3(COL6A1):c.428+14A>G
|
rs3746993
|
0.87078
|
NM_001848.3(COL6A1):c.859-19A>G
|
rs2277814
|
0.86865
|
NM_001849.4(COL6A2):c.1671+10A>G
|
rs915786
|
0.86241
|
NM_001077365.2(POMT1):c.1698+48C>G
|
rs2277152
|
0.84050
|
NM_001077365.2(POMT1):c.2003+13C>T
|
rs4740165
|
0.84044
|
NM_013382.7(POMT2):c.*1742G>A
|
rs12894594
|
0.83615
|
NM_013382.7(POMT2):c.*1501G>A
|
rs4141640
|
0.83310
|
NM_013382.7(POMT2):c.1383G>A (p.Arg461=)
|
rs2270419
|
0.82874
|
NM_001849.4(COL6A2):c.1332+26A>G
|
rs3737362
|
0.82158
|
NM_013382.7(POMT2):c.1911T>G (p.Leu637=)
|
rs3209079
|
0.82113
|
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro)
|
rs2270669
|
0.81638
|
NM_001849.4(COL6A2):c.1771-25A>G
|
rs2839113
|
0.81072
|
NM_003863.4(DPM2):c.213T>C (p.Tyr71=)
|
rs6781
|
0.80380
|
NM_032806.6(POMGNT2):c.1365G>A (p.Pro455=)
|
rs604033
|
0.80050
|
NM_003863.3(DPM2):c.-152A>G
|
rs6478802
|
0.79362
|
NM_003863.3(DPM2):c.-628A>G
|
rs3758327
|
0.79360
|
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser)
|
rs7997
|
0.79357
|
NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr)
|
rs7349185
|
0.78899
|
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn)
|
rs2839110
|
0.74122
|
NM_016213.5(TRIP4):c.1044-25G>A
|
rs2046356
|
0.74036
|
NM_020451.3(SELENON):c.1173T>C (p.Pro391=)
|
rs760597
|
0.73933
|
NM_173660.5(DOK7):c.533-29A>G
|
rs2006791
|
0.73240
|
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser)
|
rs970547
|
0.72620
|
NM_004370.6(COL12A1):c.5525-132A>G
|
rs1332778
|
0.71264
|
NM_001077365.2(POMT1):c.*453T>C
|
rs11005
|
0.70594
|
NM_001848.3(COL6A1):c.588+13C>A
|
rs754507
|
0.69697
|
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr)
|
rs6728818
|
0.68552
|
NM_020451.3(SELENON):c.1093-46C>A
|
rs760598
|
0.68499
|
NM_004370.6(COL12A1):c.7086+44C>G
|
rs499018
|
0.64589
|
NM_020451.3(SELENON):c.1282-41C>T
|
rs10902685
|
0.64052
|
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys)
|
rs2294228
|
0.64022
|
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=)
|
rs2229849
|
0.63028
|
NM_000426.4(LAMA2):c.7760C>T (p.Ala2587Val)
|
rs2229848
|
0.62946
|
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=)
|
rs1980982
|
0.60426
|
NM_005198.5(CHKB):c.333+10G>T
|
rs86337
|
0.59693
|
NM_002206.3(ITGA7):c.2357+21A>G
|
rs7953669
|
0.58989
|
NM_002206.3(ITGA7):c.1282-11T>C
|
rs2293412
|
0.58963
|
NM_001848.3(COL6A1):c.1461+18C>A
|
rs2276254
|
0.58488
|
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=)
|
rs3790993
|
0.56512
|
NM_013382.7(POMT2):c.*1137G>A
|
rs7158951
|
0.56341
|
NM_013382.7(POMT2):c.*790G>A
|
rs7159558
|
0.56247
|
NM_001849.4(COL6A2):c.2462-35C>T
|
rs7279622
|
0.54180
|
NM_152490.5(B3GALNT2):c.321= (p.Glu107=)
|
rs291396
|
0.53906
|
NM_013382.7(POMT2):c.1184-47A>C
|
rs2287387
|
0.51704
|
NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=)
|
rs3749877
|
0.50817
|
NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=)
|
rs3749878
|
0.50693
|
NM_001101426.4(CRPPA):c.789+89A>G
|
rs62441885
|
0.50511
|
NM_000426.4(LAMA2):c.5727-24T>A
|
rs3828735
|
0.50074
|
NM_000426.4(LAMA2):c.5727-22C>T
|
rs80125253
|
0.50051
|
NM_000426.4(LAMA2):c.5727-21T>G
|
rs76902576
|
0.50019
|
NM_001848.3(COL6A1):c.1399-32T>C
|
rs2839077
|
0.49659
|
NM_002206.3(ITGA7):c.334+19A>G
|
rs2293413
|
0.49590
|
NM_001849.4(COL6A2):c.1116+32G>A
|
rs7279347
|
0.49217
|
NM_002206.3(ITGA7):c.1887+29G>A
|
rs7974721
|
0.49050
|
NM_001848.3(COL6A1):c.1956+15C>T
|
rs11701124
|
0.48762
|
NM_002206.3(ITGA7):c.1952G>A (p.Arg651His)
|
rs1800974
|
0.48530
|
NM_001101426.4(CRPPA):c.534+13T>A
|
rs6461252
|
0.47530
|
NM_002206.3(ITGA7):c.3184-12G>C
|
rs3852533
|
0.47439
|
NM_002206.3(ITGA7):c.2004-19G>A
|
rs2293410
|
0.47288
|
NM_152490.5(B3GALNT2):c.321G>A (p.Glu107=)
|
rs291396
|
0.46094
|
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)
|
rs1042917
|
0.45419
|
NM_001849.4(COL6A2):c.928-19C>T
|
rs762438
|
0.45414
|
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_004370.6(COL12A1):c.5395-29G>A
|
rs1332020
|
0.42606
|
NM_013382.7(POMT2):c.*1058G>A
|
rs11624564
|
0.41162
|
NM_013382.7(POMT2):c.*1967C>T
|
rs11547794
|
0.41103
|
NM_013382.7(POMT2):c.*1974G>A
|
rs11159254
|
0.41096
|
NM_133642.5(LARGE1):c.435C>T (p.Ala145=)
|
rs86487
|
0.39804
|
NM_004393.6(DAG1):c.*250T>C
|
rs1050088
|
0.39364
|
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=)
|
rs4433949
|
0.38748
|
NM_017739.4(POMGNT1):c.1027-44A>G
|
rs7527668
|
0.37971
|
NM_000426.4(LAMA2):c.7760= (p.Ala2587=)
|
rs2229848
|
0.37054
|
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile)
|
rs1131296
|
0.36920
|
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=)
|
rs2229850
|
0.35164
|
NM_001848.3(COL6A1):c.1462-36A>G
|
rs2276255
|
0.35129
|
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)
|
rs2292487
|
0.34915
|
NM_017739.4(POMGNT1):c.951-52A>G
|
rs7527935
|
0.34868
|
NM_017739.4(POMGNT1):c.1212-66T>C
|
rs2292484
|
0.34786
|
NM_017739.4(POMGNT1):c.1212-81C>T
|
rs2292485
|
0.34766
|
NM_000426.4(LAMA2):c.3174+38A>G
|
rs902373
|
0.33937
|
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_001849.4(COL6A2):c.2184G>A (p.Val728=)
|
rs2839114
|
0.32526
|
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=)
|
rs1053320
|
0.32005
|
NM_001848.3(COL6A1):c.2434+20G>A
|
rs2236486
|
0.31361
|
NM_004393.6(DAG1):c.2256C>T (p.His752=)
|
rs1801143
|
0.30176
|
NM_133642.5(LARGE1):c.-177C>T
|
rs3210587
|
0.29884
|
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg)
|
rs7782939
|
0.29616
|
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr)
|
rs240736
|
0.29412
|
NM_001848.3(COL6A1):c.1957-11C>T
|
rs8132521
|
0.28523
|
NM_173660.5(DOK7):c.332-18T>C
|
rs2699425
|
0.28202
|
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=)
|
rs17309806
|
0.27837
|
NM_001079802.2(FKTN):c.-158G>C
|
rs4742953
|
0.27121
|
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=)
|
rs1027199
|
0.26612
|
NM_000426.4(LAMA2):c.1856G>A (p.Arg619His)
|
rs3816665
|
0.25723
|
NM_000426.4(LAMA2):c.3411+13G>A
|
rs3798663
|
0.25503
|
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=)
|
rs2646254
|
0.25503
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
NM_013382.7(POMT2):c.-64G>A
|
rs2270421
|
0.24706
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=)
|
rs2645774
|
0.23421
|
NM_013382.7(POMT2):c.*2325A>G
|
rs11547793
|
0.22179
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp)
|
rs9684786
|
0.20663
|
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=)
|
rs12622093
|
0.20507
|
NM_013382.7(POMT2):c.*75C>T
|
rs1055592
|
0.20469
|
NM_004369.4(COL6A3):c.7092+26G>A
|
rs2270656
|
0.19247
|
NM_173660.5(DOK7):c.1185C>T (p.Tyr395=)
|
rs6850908
|
0.18472
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_173660.5(DOK7):c.887A>G (p.Gln296Arg)
|
rs6811423
|
0.18249
|
NM_173660.5(DOK7):c.1113A>C (p.Ser371=)
|
rs6811856
|
0.18181
|
NM_013382.7(POMT2):c.1911= (p.Leu637=)
|
rs3209079
|
0.17887
|
NM_001848.3(COL6A1):c.903+14C>A
|
rs34495634
|
0.17795
|
NM_173660.5(DOK7):c.1134G>A (p.Ala378=)
|
rs6831659
|
0.17563
|
NM_001849.4(COL6A2):c.1333-8T>C
|
rs73159701
|
0.17496
|
NM_024301.5(FKRP):c.-34C>T
|
rs3201779
|
0.17414
|
NM_013382.7(POMT2):c.1383= (p.Arg461=)
|
rs2270419
|
0.17126
|
NM_016532.4(INPP5K):c.-60G>T
|
rs3815465
|
0.17124
|
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu)
|
rs13051496
|
0.15479
|
NM_013382.7(POMT2):c.*1516A>G
|
rs45518539
|
0.14946
|
NM_014254.3(RXYLT1):c.*18C>G
|
rs1876465
|
0.14533
|
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=)
|
rs6652
|
0.14487
|
NM_001077365.2(POMT1):c.1082+16G>A
|
rs59515295
|
0.14451
|
NM_013382.7(POMT2):c.*587G>A
|
rs10141995
|
0.14409
|
NM_013382.7(POMT2):c.1654-6A>G
|
rs4540995
|
0.14330
|
NM_024301.5(FKRP):c.135C>T (p.Ala45=)
|
rs2287717
|
0.14031
|
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=)
|
rs9977394
|
0.13855
|
NM_173660.5(DOK7):c.101-11G>A
|
rs2344209
|
0.13238
|
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=)
|
rs2291795
|
0.12954
|
NM_006876.3(B4GAT1):c.117G>A (p.Gln39=)
|
rs11537930
|
0.12566
|
NM_001079802.2(FKTN):c.*5618T>A
|
rs1048215
|
0.12282
|
NM_001079802.2(FKTN):c.*786T>G
|
rs10978177
|
0.12279
|
NM_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.12205
|
NM_001079802.2(FKTN):c.*1133A>G
|
rs2768282
|
0.12157
|
NM_001079802.2(FKTN):c.*2280T>C
|
rs1024366
|
0.12115
|
NM_001079802.2(FKTN):c.*5260G>T
|
rs2010861
|
0.11975
|
NM_001849.4(COL6A2):c.1609-10C>T
|
rs17357592
|
0.11879
|
NM_001077365.2(POMT1):c.699+53=
|
rs2296949
|
0.11752
|
NM_001077365.2(POMT1):c.1047= (p.Asp349=)
|
rs3739494
|
0.11727
|
NM_001077365.2(POMT1):c.876= (p.Thr292=)
|
rs10901065
|
0.11723
|
NM_001077365.2(POMT1):c.*421G>A
|
rs10257
|
0.11588
|
NM_001079802.2(FKTN):c.*5041G>A
|
rs1854124
|
0.11478
|
NM_013382.7(POMT2):c.1117-20C>T
|
rs7153929
|
0.11460
|
NM_013382.7(POMT2):c.*1748C>A
|
rs45458096
|
0.11420
|
NM_004370.6(COL12A1):c.8265+19A>T
|
rs9447445
|
0.11270
|
NM_004370.6(COL12A1):c.1892-8_1892-6del
|
rs199713791
|
0.10881
|
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_004369.4(COL6A3):c.9213C>T (p.His3071=)
|
rs2270671
|
0.10029
|
NM_001849.4(COL6A2):c.663C>T (p.Pro221=)
|
rs59531343
|
0.09859
|
NM_005198.5(CHKB):c.*134T>C
|
rs1056964
|
0.09639
|
NM_005198.5(CHKB):c.*216C>G
|
rs3180872
|
0.09626
|
NM_133642.5(LARGE1):c.-63C>T
|
rs16992986
|
0.09348
|
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met)
|
rs2306942
|
0.09135
|
NM_000426.4(LAMA2):c.7906A>G (p.Thr2636Ala)
|
rs2244008
|
0.08650
|
NM_000426.4(LAMA2):c.156C>T (p.Ile52=)
|
rs1140366
|
0.08370
|
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg)
|
rs35548026
|
0.08193
|
NM_000426.4(LAMA2):c.4523+19C>T
|
rs17057158
|
0.08168
|
NM_000426.4(LAMA2):c.4956C>G (p.Thr1652=)
|
rs17057184
|
0.07998
|
NM_133642.5(LARGE1):c.*921C>G
|
rs16992034
|
0.07871
|
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu)
|
rs36117715
|
0.07538
|
NM_001079802.2(FKTN):c.*5062G>A
|
rs1854125
|
0.07482
|
NM_133642.5(LARGE1):c.-397C>G
|
rs114106875
|
0.07319
|
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val)
|
rs11690358
|
0.07295
|
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_004369.4(COL6A3):c.7329C>T (p.Ala2443=)
|
rs10084221
|
0.06701
|
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=)
|
rs10201909
|
0.06660
|
NM_002206.3(ITGA7):c.415-10C>T
|
rs11171661
|
0.06475
|
NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser)
|
rs16844464
|
0.06297
|
NM_001849.4(COL6A2):c.1770+4G>A
|
rs9981981
|
0.06098
|
NM_013382.7(POMT2):c.-124G>A
|
rs147337187
|
0.06001
|
NM_002206.3(ITGA7):c.810G>A (p.Gly270=)
|
rs3847675
|
0.05834
|
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln)
|
rs11896521
|
0.05751
|
NM_017739.4(POMGNT1):c.1895+30A>G
|
rs113174528
|
0.05532
|
NM_013382.7(POMT2):c.162G>T (p.Ala54=)
|
rs2270420
|
0.05519
|
NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val)
|
rs35710072
|
0.05341
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
NM_017739.4(POMGNT1):c.1867= (p.Met623=)
|
rs6659553
|
0.05119
|
NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=)
|
rs17117883
|
0.05018
|
NM_032806.6(POMGNT2):c.1233G>A (p.Gln411=)
|
rs9811883
|
0.04801
|
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)
|
rs17722172
|
0.04733
|
NM_173660.5(DOK7):c.753G>A (p.Ala251=)
|
rs59932476
|
0.04559
|
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)
|
rs4740164
|
0.04243
|
NM_017739.4(POMGNT1):c.235+33T>G
|
rs41309197
|
0.04222
|
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)
|
rs11243406
|
0.04069
|
NM_013382.7(POMT2):c.-128C>T
|
rs116224770
|
0.03577
|
NM_001849.4(COL6A2):c.714+9C>T
|
rs78822624
|
0.03565
|
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val)
|
rs35523808
|
0.03556
|
NM_133642.5(LARGE1):c.*154C>A
|
rs73399512
|
0.03456
|
NM_002206.3(ITGA7):c.824G>A (p.Arg275His)
|
rs74867235
|
0.03438
|
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=)
|
rs16978875
|
0.03433
|
NM_133642.5(LARGE1):c.*856G>A
|
rs77663505
|
0.03428
|
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)
|
rs34006675
|
0.03359
|
NM_133642.5(LARGE1):c.*207G>A
|
rs16992036
|
0.03294
|
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_013382.7(POMT2):c.161C>A (p.Ala54Glu)
|
rs8177536
|
0.03119
|
NM_005198.5(CHKB):c.*96G>C
|
rs17001634
|
0.03056
|
NM_001848.3(COL6A1):c.2435-19C>T
|
rs115181427
|
0.03003
|
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=)
|
rs61746966
|
0.02927
|
NM_001079802.2(FKTN):c.*3778T>C
|
rs79831528
|
0.02904
|
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=)
|
rs61735853
|
0.02858
|
NM_020451.3(SELENON):c.981C>T (p.Arg327=)
|
rs147587542
|
0.02788
|
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His)
|
rs36092870
|
0.02734
|
NM_017739.4(POMGNT1):c.1111-23C>T
|
rs2292486
|
0.02728
|
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_133642.5(LARGE1):c.1548C>T (p.Tyr516=)
|
rs34292743
|
0.02604
|
NM_001848.3(COL6A1):c.1273-8C>T
|
rs7280215
|
0.02565
|
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=)
|
rs35429515
|
0.02487
|
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val)
|
rs61734789
|
0.02478
|
NM_004393.6(DAG1):c.41= (p.Ser14=)
|
rs1553648360
|
0.02474
|
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr)
|
rs75535959
|
0.02433
|
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=)
|
rs34181055
|
0.02427
|
NM_020451.3(SELENON):c.1745G>A (p.Arg582Gln)
|
rs74060854
|
0.02376
|
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn)
|
rs16844422
|
0.02362
|
NM_133642.5(LARGE1):c.576C>T (p.Pro192=)
|
rs36002910
|
0.02334
|
NM_020451.3(SELENON):c.42C>T (p.Pro14=)
|
rs187960531
|
0.02295
|
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=)
|
rs35313209
|
0.02285
|
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=)
|
rs34954751
|
0.02208
|
NM_133642.5(LARGE1):c.*740A>G
|
rs116335813
|
0.02207
|
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser)
|
rs73599293
|
0.02196
|
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=)
|
rs11913417
|
0.02196
|
NM_001848.3(COL6A1):c.1314G>A (p.Thr438=)
|
rs7279254
|
0.02172
|
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu)
|
rs11910483
|
0.02152
|
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=)
|
rs34340053
|
0.02105
|
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)
|
rs41277797
|
0.02093
|
NM_002206.3(ITGA7):c.2433-5G>A
|
rs79745402
|
0.02069
|
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_017739.4(POMGNT1):c.1540-16C>T
|
rs10493123
|
0.02014
|
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=)
|
rs62620174
|
0.02004
|
NM_013382.7(POMT2):c.*1087C>T
|
rs59725094
|
0.01993
|
NM_001077365.2(POMT1):c.*529G>A
|
rs116005066
|
0.01991
|
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=)
|
rs35902696
|
0.01962
|
NM_133642.5(LARGE1):c.309C>T (p.Ser103=)
|
rs59349720
|
0.01920
|
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)
|
rs61735829
|
0.01898
|
NM_013382.7(POMT2):c.*1337C>T
|
rs45561437
|
0.01861
|
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln)
|
rs73399520
|
0.01853
|
NM_020451.3(SELENON):c.1387+11C>T
|
rs59653066
|
0.01839
|
NM_001849.4(COL6A2):c.*56T>G
|
rs148337125
|
0.01837
|
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_001848.3(COL6A1):c.1957-5C>T
|
rs78224483
|
0.01793
|
NM_005198.5(CHKB):c.216C>T (p.Tyr72=)
|
rs80067609
|
0.01782
|
NM_002206.3(ITGA7):c.1617G>T (p.Gln539His)
|
rs61733963
|
0.01753
|
NM_002206.3(ITGA7):c.3144G>C (p.Gly1048=)
|
rs62648071
|
0.01749
|
NM_002206.3(ITGA7):c.1567+12C>T
|
rs79849707
|
0.01666
|
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=)
|
rs2228599
|
0.01648
|
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val)
|
rs12115566
|
0.01621
|
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_032237.5(POMK):c.795C>T (p.Asp265=)
|
rs36071326
|
0.01548
|
NM_004369.4(COL6A3):c.6157-16G>A
|
rs112637114
|
0.01524
|
NM_001079802.2(FKTN):c.*4825T>C
|
rs115155934
|
0.01517
|
NM_001079802.2(FKTN):c.*2298C>G
|
rs116107812
|
0.01491
|
NM_024301.5(FKRP):c.192C>T (p.Pro64=)
|
rs111754012
|
0.01474
|
NM_133642.5(LARGE1):c.165G>C (p.Thr55=)
|
rs63446460
|
0.01465
|
NM_004370.6(COL12A1):c.834T>G (p.Ala278=)
|
rs16886258
|
0.01455
|
NM_021971.4(GMPPB):c.376C>G (p.His126Asp)
|
rs34345884
|
0.01439
|
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=)
|
rs7971022
|
0.01436
|
NM_002206.3(ITGA7):c.3031T>C (p.Leu1011=)
|
rs17117879
|
0.01435
|
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp)
|
rs16844470
|
0.01433
|
NM_004370.6(COL12A1):c.1551A>G (p.Thr517=)
|
rs34767467
|
0.01428
|
NM_004370.6(COL12A1):c.2007G>A (p.Ala669=)
|
rs77790445
|
0.01425
|
NM_173660.5(DOK7):c.1317C>T (p.Ser439=)
|
rs16844467
|
0.01424
|
NM_004370.6(COL12A1):c.2086T>C (p.Leu696=)
|
rs116691242
|
0.01422
|
NM_173660.5(DOK7):c.1143C>T (p.Pro381=)
|
rs56769879
|
0.01415
|
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_004369.4(COL6A3):c.8822C>T (p.Ala2941Val)
|
rs11903206
|
0.01334
|
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr)
|
rs138884734
|
0.01280
|
NM_013382.7(POMT2):c.-56G>A
|
rs567281401
|
0.01276
|
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala)
|
rs35889149
|
0.01262
|
NM_003863.3(DPM2):c.-382C>T
|
rs112813338
|
0.01257
|
NM_004370.6(COL12A1):c.8650-19T>A
|
rs79461746
|
0.01255
|
NM_152637.3(TMT1B):c.670C>T (p.Arg224Ter)
|
rs115687886
|
0.01252
|
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala)
|
rs35019869
|
0.01231
|
NM_173660.5(DOK7):c.653-19A>C
|
rs191981243
|
0.01231
|
NM_001848.3(COL6A1):c.97+20G>A
|
rs114178849
|
0.01230
|
NM_001079802.2(FKTN):c.*5517T>C
|
rs114655654
|
0.01215
|
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=)
|
rs112896869
|
0.01203
|
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=)
|
rs8132678
|
0.01197
|
NM_021971.4(GMPPB):c.330C>T (p.Asp110=)
|
rs11547261
|
0.01192
|
NM_001079802.2(FKTN):c.*818C>T
|
rs79162268
|
0.01167
|
NM_021971.4(GMPPB):c.551= (p.Gln184=)
|
rs1466685
|
0.01166
|
NM_001848.3(COL6A1):c.958-17G>A
|
rs79364611
|
0.01165
|
NM_004370.6(COL12A1):c.6848G>A (p.Gly2283Glu)
|
rs77094372
|
0.01163
|
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_004370.6(COL12A1):c.6198A>C (p.Pro2066=)
|
rs34619869
|
0.01132
|
NM_001848.3(COL6A1):c.645G>A (p.Ala215=)
|
rs115292913
|
0.01120
|
NM_133642.5(LARGE1):c.-149G>C
|
rs143403352
|
0.01106
|
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln)
|
rs61729839
|
0.01085
|
NM_024301.5(FKRP):c.585C>T (p.Asp195=)
|
rs75079578
|
0.01080
|
NM_173660.5(DOK7):c.782G>A (p.Arg261His)
|
rs16844460
|
0.01070
|
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=)
|
rs41292143
|
0.01062
|
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_001077365.2(POMT1):c.1479C>T (p.Tyr493=)
|
rs62636653
|
0.01037
|
NM_003863.4(DPM2):c.183G>A (p.Leu61=)
|
rs11552794
|
0.01027
|
NM_001077365.2(POMT1):c.1125C>T (p.His375=)
|
rs35242383
|
0.01019
|
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr)
|
rs35139588
|
0.01019
|
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=)
|
rs34503558
|
0.01014
|
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg)
|
rs11553518
|
0.01008
|
NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=)
|
rs35207939
|
0.01004
|
NM_001079802.2(FKTN):c.42G>A (p.Thr14=)
|
rs78794935
|
0.01002
|
NM_001079802.2(FKTN):c.106-10G>A
|
rs148384394
|
0.01000
|
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)
|
rs80272723
|
0.01000
|
NM_001077365.2(POMT1):c.1825+19del
|
rs11345097
|
0.00998
|
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys)
|
rs61735835
|
0.00998
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys)
|
rs147266709
|
0.00982
|
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser)
|
rs141166141
|
0.00982
|
NM_001077365.2(POMT1):c.78G>A (p.Gly26=)
|
rs149554732
|
0.00980
|
NM_001079802.2(FKTN):c.*1638A>G
|
rs78462952
|
0.00980
|
NM_016213.5(TRIP4):c.981C>T (p.Thr327=)
|
rs115922345
|
0.00975
|
NM_001077365.2(POMT1):c.*338T>G
|
rs193003183
|
0.00971
|
NM_004393.6(DAG1):c.2231G>C (p.Ser744Thr)
|
rs114357468
|
0.00947
|
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His)
|
rs140547835
|
0.00922
|
NM_003863.4(DPM2):c.177C>T (p.Leu59=)
|
rs35334863
|
0.00922
|
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser)
|
rs34367843
|
0.00914
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
NM_024301.5(FKRP):c.249C>T (p.Ala83=)
|
rs149030303
|
0.00897
|
NM_133642.5(LARGE1):c.552G>A (p.Thr184=)
|
rs8142483
|
0.00887
|
NM_004369.4(COL6A3):c.6156+4C>T
|
rs111228504
|
0.00884
|
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala)
|
rs34369939
|
0.00867
|
NM_000426.4(LAMA2):c.8548-10T>C
|
rs113644365
|
0.00865
|
NM_001849.4(COL6A2):c.1672-12G>A
|
rs113857622
|
0.00860
|
NM_001077365.2(POMT1):c.-6T>G
|
rs62620173
|
0.00840
|
NM_133642.5(LARGE1):c.*1201A>G
|
rs11544101
|
0.00840
|
NM_005198.4(CHKB):c.-97G>C
|
rs114094125
|
0.00832
|
NM_133642.5(LARGE1):c.-83+63217G>C
|
rs114574565
|
0.00831
|
NM_013382.7(POMT2):c.*2091G>T
|
rs139493728
|
0.00821
|
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)
|
rs34741387
|
0.00817
|
NM_001077365.2(POMT1):c.1826-6C>A
|
rs140258585
|
0.00816
|
NM_001077365.2(POMT1):c.1826-7C>A
|
rs148180760
|
0.00816
|
NM_013382.7(POMT2):c.*1756C>T
|
rs148688355
|
0.00815
|
NM_001079802.2(FKTN):c.*4491T>C
|
rs41316524
|
0.00811
|
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)
|
rs41313301
|
0.00809
|
NM_001079802.2(FKTN):c.166-6A>G
|
rs41277795
|
0.00808
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_001079802.2(FKTN):c.910+14G>A
|
rs76180538
|
0.00806
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_173660.5(DOK7):c.332-4G>A
|
rs199578351
|
0.00790
|
NM_004393.6(DAG1):c.2271C>T (p.Ala757=)
|
rs78281659
|
0.00786
|
NM_001079802.2(FKTN):c.*5578G>A
|
rs41277801
|
0.00776
|
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_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp)
|
rs147175064
|
0.00760
|
NM_032237.5(POMK):c.624G>C (p.Leu208=)
|
rs34040483
|
0.00759
|
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg)
|
rs192925278
|
0.00734
|
NM_004370.6(COL12A1):c.6210+13C>T
|
rs139520272
|
0.00723
|
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly)
|
rs111695726
|
0.00720
|
NM_002206.3(ITGA7):c.46T>G (p.Cys16Gly)
|
rs142060614
|
0.00719
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
NM_001848.3(COL6A1):c.1612-10G>A
|
rs141892165
|
0.00714
|
NM_004369.4(COL6A3):c.1791C>T (p.Phe597=)
|
rs76576170
|
0.00714
|
NM_001079802.2(FKTN):c.*1229A>G
|
rs116549376
|
0.00711
|
NM_001848.3(COL6A1):c.1823-8G>A
|
rs184666690
|
0.00711
|
NM_002206.3(ITGA7):c.903C>T (p.Ser301=)
|
rs113343213
|
0.00707
|
NM_001848.3(COL6A1):c.1182+20C>T
|
rs7275706
|
0.00705
|
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys)
|
rs114363936
|
0.00703
|
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser)
|
rs35273032
|
0.00703
|
NM_002206.3(ITGA7):c.1281+13G>A
|
rs143895796
|
0.00701
|
NM_133642.5(LARGE1):c.-31G>A
|
rs117199378
|
0.00694
|
NM_001848.3(COL6A1):c.3054C>T (p.His1018=)
|
rs141237809
|
0.00680
|
NM_001079802.2(FKTN):c.*2213A>G
|
rs141298287
|
0.00678
|
NM_002206.3(ITGA7):c.459C>G (p.Ile153Met)
|
rs149000088
|
0.00672
|
NM_005198.5(CHKB):c.-48G>T
|
rs41282357
|
0.00660
|
NM_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly)
|
rs141536395
|
0.00659
|
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=)
|
rs116434191
|
0.00658
|
NM_001849.4(COL6A2):c.2856G>A (p.Thr952=)
|
rs138074469
|
0.00644
|
NM_004393.6(DAG1):c.259A>G (p.Ile87Val)
|
rs116717961
|
0.00640
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp)
|
rs61733050
|
0.00636
|
NM_000426.4(LAMA2):c.8774C>T (p.Pro2925Leu)
|
rs77113162
|
0.00635
|
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln)
|
rs61735828
|
0.00627
|
NM_152490.5(B3GALNT2):c.152A>G (p.Tyr51Cys)
|
rs61742900
|
0.00622
|
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)
|
rs1046166
|
0.00617
|
NM_001077365.2(POMT1):c.891G>A (p.Leu297=)
|
rs76109289
|
0.00616
|
NM_004369.4(COL6A3):c.4285+9G>A
|
rs75780727
|
0.00613
|
NM_013382.7(POMT2):c.1183+14A>G
|
rs80099135
|
0.00613
|
NM_001077365.2(POMT1):c.*206A>G
|
rs111470256
|
0.00610
|
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_001849.4(COL6A2):c.2769C>T (p.His923=)
|
rs140419176
|
0.00591
|
NM_133642.5(LARGE1):c.*1235A>G
|
rs1801820
|
0.00578
|
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys)
|
rs61744487
|
0.00561
|
NM_001848.3(COL6A1):c.739-18C>T
|
rs144843800
|
0.00561
|
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_058174.3(COL6A2):c.2649C>T (p.Phe883=)
|
rs149172490
|
0.00540
|
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp)
|
rs149905649
|
0.00516
|
NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=)
|
rs148170949
|
0.00509
|
NM_004370.6(COL12A1):c.2481G>A (p.Thr827=)
|
rs35170847
|
0.00506
|
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_004370.6(COL12A1):c.9162C>T (p.Tyr3054=)
|
rs35292916
|
0.00501
|
NM_004370.6(COL12A1):c.4917C>T (p.Asp1639=)
|
rs80102965
|
0.00499
|
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn)
|
rs140785104
|
0.00496
|
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_017739.4(POMGNT1):c.-11G>A
|
rs80107141
|
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_005198.5(CHKB):c.*208T>G
|
rs41281533
|
0.00481
|
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)
|
rs117931394
|
0.00474
|
NM_001079802.2(FKTN):c.*2427G>T
|
rs116364105
|
0.00472
|
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)
|
rs62272670
|
0.00470
|
NM_017739.4(POMGNT1):c.120+13C>T
|
rs12737140
|
0.00459
|
NM_032806.6(POMGNT2):c.537G>C (p.Leu179=)
|
rs149932476
|
0.00458
|
NM_004393.6(DAG1):c.1701C>T (p.Ser567=)
|
rs142579425
|
0.00456
|
NM_004369.4(COL6A3):c.3456C>T (p.Ser1152=)
|
rs112815265
|
0.00444
|
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln)
|
rs111231885
|
0.00438
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
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_133642.5(LARGE1):c.163A>G (p.Thr55Ala)
|
rs34642406
|
0.00430
|
NM_032806.6(POMGNT2):c.762G>A (p.Lys254=)
|
rs115870061
|
0.00429
|
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=)
|
rs116343553
|
0.00426
|
NM_001079802.2(FKTN):c.648-1278A>C
|
rs181901044
|
0.00425
|
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_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala)
|
rs77654847
|
0.00419
|
NM_001127898.4(CLCN5):c.316-17T>G
|
rs56117808
|
0.00404
|
NM_001848.3(COL6A1):c.1335+20G>C
|
rs9306146
|
0.00401
|
NM_173660.5(DOK7):c.54+19C>T
|
rs757053604
|
0.00400
|
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val)
|
rs113716915
|
0.00396
|
NM_004369.4(COL6A3):c.709+11C>T
|
rs111660070
|
0.00395
|
NM_004369.4(COL6A3):c.4285+17G>A
|
rs3791000
|
0.00392
|
NM_004369.4(COL6A3):c.4683G>A (p.Gln1561=)
|
rs113074898
|
0.00392
|
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_001077365.2(POMT1):c.2060C>T (p.Ala687Val)
|
rs138171526
|
0.00378
|
NM_017739.4(POMGNT1):c.*221G>A
|
rs181362801
|
0.00374
|
NM_001849.4(COL6A2):c.2886C>T (p.His962=)
|
rs115970356
|
0.00365
|
NM_017739.4(POMGNT1):c.*451C>T
|
rs148903585
|
0.00364
|
NM_004369.4(COL6A3):c.6972C>T (p.Asn2324=)
|
rs113961575
|
0.00363
|
NM_004369.4(COL6A3):c.1638C>T (p.Ala546=)
|
rs112040282
|
0.00360
|
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
|
rs148206382
|
0.00359
|
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=)
|
rs113066678
|
0.00353
|
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=)
|
rs115163637
|
0.00349
|
NM_004370.6(COL12A1):c.4000+5G>A
|
rs181257320
|
0.00349
|
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_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)
|
rs144983062
|
0.00347
|
NM_004370.6(COL12A1):c.4335A>G (p.Lys1445=)
|
rs113549828
|
0.00347
|
NM_001849.4(COL6A2):c.510C>T (p.Cys170=)
|
rs142328765
|
0.00343
|
NM_013382.7(POMT2):c.2148-18A>G
|
rs138488805
|
0.00343
|
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=)
|
rs114766691
|
0.00339
|
NM_001101426.4(CRPPA):c.1251+18C>T
|
rs201599524
|
0.00339
|
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=)
|
rs35911211
|
0.00339
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_002206.3(ITGA7):c.2146A>C (p.Met716Leu)
|
rs149403824
|
0.00333
|
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln)
|
rs151078549
|
0.00333
|
NM_001077365.2(POMT1):c.1585-14C>T
|
rs78529026
|
0.00332
|
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=)
|
rs77351928
|
0.00330
|
NM_133642.5(LARGE1):c.-399A>T
|
rs535216289
|
0.00327
|
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=)
|
rs150814269
|
0.00324
|
NM_002206.3(ITGA7):c.1506-14C>T
|
rs148374832
|
0.00322
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg)
|
rs141381896
|
0.00317
|
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)
|
rs75120695
|
0.00315
|
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)
|
rs145403829
|
0.00314
|
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=)
|
rs35134265
|
0.00313
|
NM_001848.3(COL6A1):c.1182+3G>A
|
rs62215499
|
0.00310
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln)
|
rs112638391
|
0.00306
|
NM_001079802.2(FKTN):c.*2265T>C
|
rs76003803
|
0.00304
|
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys)
|
rs187484645
|
0.00299
|
NM_001848.3(COL6A1):c.2067-10T>C
|
rs200727020
|
0.00299
|
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser)
|
rs115957676
|
0.00299
|
NM_001848.3(COL6A1):c.1612-6C>T
|
rs143812383
|
0.00296
|
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val)
|
rs113651939
|
0.00295
|
NM_001079802.2(FKTN):c.*3861T>C
|
rs185745657
|
0.00292
|
NM_006876.3(B4GAT1):c.828G>T (p.Val276=)
|
rs142956522
|
0.00291
|
NM_005572.3(LMNA):c.-223C>T
|
rs188625872
|
0.00284
|
NM_004370.6(COL12A1):c.5874A>G (p.Pro1958=)
|
rs186035636
|
0.00283
|
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)
|
rs146097254
|
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_032806.6(POMGNT2):c.364G>A (p.Val122Met)
|
rs149948290
|
0.00274
|
NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=)
|
rs113542401
|
0.00272
|
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser)
|
rs149081471
|
0.00270
|
NM_020451.3(SELENON):c.1645G>A (p.Val549Met)
|
rs147131452
|
0.00268
|
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=)
|
rs115387170
|
0.00267
|
NM_032237.5(POMK):c.714C>T (p.Ser238=)
|
rs148949414
|
0.00266
|
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val)
|
rs116729313
|
0.00265
|
NM_013382.7(POMT2):c.*176C>T
|
rs143803905
|
0.00265
|
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg)
|
rs146869947
|
0.00264
|
NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=)
|
rs1190625
|
0.00264
|
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)
|
rs17102066
|
0.00264
|
NM_003863.4(DPM2):c.3+12A>G
|
rs2274425
|
0.00262
|
NM_004370.6(COL12A1):c.2965G>A (p.Gly989Arg)
|
rs139332405
|
0.00262
|
NM_004370.6(COL12A1):c.8582G>A (p.Ser2861Asn)
|
rs148065232
|
0.00261
|
NM_001077365.2(POMT1):c.*635T>G
|
rs112845474
|
0.00260
|
NM_004369.4(COL6A3):c.8458G>A (p.Val2820Ile)
|
rs115171119
|
0.00260
|
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=)
|
rs61735830
|
0.00258
|
NM_013382.7(POMT2):c.924-10C>T
|
rs142122657
|
0.00258
|
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=)
|
rs147219060
|
0.00252
|
NM_002206.3(ITGA7):c.3058-6C>T
|
rs201070308
|
0.00252
|
NM_024301.5(FKRP):c.822C>G (p.Ile274Met)
|
rs77138370
|
0.00251
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_004393.6(DAG1):c.1233G>A (p.Val411=)
|
rs145765079
|
0.00249
|
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=)
|
rs142190930
|
0.00248
|
NM_004370.6(COL12A1):c.4691-12G>A
|
rs146472530
|
0.00243
|
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys)
|
rs145419117
|
0.00243
|
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn)
|
rs28562813
|
0.00242
|
NM_173660.5(DOK7):c.332-69_332-18del
|
rs1560212382
|
0.00242
|
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro)
|
rs199742668
|
0.00240
|
NM_173660.5(DOK7):c.904G>C (p.Ala302Pro)
|
rs79063654
|
0.00237
|
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln)
|
rs36062562
|
0.00234
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu)
|
rs77513082
|
0.00232
|
NM_001077365.2(POMT1):c.*25C>T
|
rs115818625
|
0.00230
|
NM_001849.4(COL6A2):c.1161C>T (p.Ile387=)
|
rs140027285
|
0.00229
|
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala)
|
rs141918432
|
0.00228
|
NM_004393.6(DAG1):c.2036G>A (p.Arg679His)
|
rs113904914
|
0.00227
|
NM_173660.5(DOK7):c.178G>A (p.Glu60Lys)
|
rs199980106
|
0.00227
|
NM_032237.5(POMK):c.1006G>A (p.Asp336Asn)
|
rs113361507
|
0.00226
|
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu)
|
rs111803773
|
0.00225
|
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser)
|
rs143026295
|
0.00224
|
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile)
|
rs116105846
|
0.00224
|
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser)
|
rs141517088
|
0.00224
|
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)
|
rs74550830
|
0.00224
|
NM_002206.3(ITGA7):c.882G>A (p.Val294=)
|
rs148190047
|
0.00223
|
NM_001077365.2(POMT1):c.1416C>T (p.Val472=)
|
rs139687326
|
0.00222
|
NM_001079802.2(FKTN):c.*2592T>C
|
rs538086095
|
0.00220
|
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)
|
rs558064127
|
0.00220
|
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly)
|
rs112913396
|
0.00220
|
NM_133642.5(LARGE1):c.210C>T (p.Arg70=)
|
rs145048151
|
0.00220
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
NM_133642.5(LARGE1):c.-83+63202T>G
|
rs147343461
|
0.00215
|
NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met)
|
rs114061998
|
0.00214
|
NM_024301.5(FKRP):c.1440C>T (p.Asn480=)
|
rs115365212
|
0.00213
|
NM_001079802.2(FKTN):c.-88-6T>C
|
rs115730708
|
0.00212
|
NM_013382.7(POMT2):c.1332+13C>T
|
rs142916824
|
0.00211
|
NM_001849.4(COL6A2):c.1671+9C>T
|
rs186428044
|
0.00210
|
NM_004370.6(COL12A1):c.1892-7T>A
|
rs779185109
|
0.00210
|
NM_173660.5(DOK7):c.919G>A (p.Ala307Thr)
|
rs150415034
|
0.00210
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_032806.6(POMGNT2):c.674G>A (p.Arg225Gln)
|
rs138980930
|
0.00208
|
NM_001849.4(COL6A2):c.1333-10C>G
|
rs199513044
|
0.00207
|
NM_002206.3(ITGA7):c.2958+16G>A
|
rs200586885
|
0.00207
|
NM_001079802.2(FKTN):c.*1018T>A
|
rs16924759
|
0.00204
|
NM_001849.4(COL6A2):c.1140C>T (p.Arg380=)
|
rs144482400
|
0.00202
|
NM_173660.5(DOK7):c.812G>C (p.Ser271Thr)
|
rs144592743
|
0.00202
|
NM_001079802.2(FKTN):c.-96T>C
|
rs151250905
|
0.00201
|
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_017739.4(POMGNT1):c.236-13T>C
|
rs150578902
|
0.00196
|
NM_001848.3(COL6A1):c.2250+6G>C
|
rs202212586
|
0.00195
|
NM_001848.3(COL6A1):c.324C>T (p.Gly108=)
|
rs138646508
|
0.00194
|
NM_032806.6(POMGNT2):c.966C>G (p.Ser322=)
|
rs141319921
|
0.00186
|
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=)
|
rs147194375
|
0.00185
|
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=)
|
rs146512619
|
0.00181
|
NM_032237.5(POMK):c.902T>C (p.Met301Thr)
|
rs33920561
|
0.00181
|
NM_173660.5(DOK7):c.1278C>T (p.Pro426=)
|
rs139468087
|
0.00181
|
NM_024301.5(FKRP):c.1179A>G (p.Val393=)
|
rs145894568
|
0.00179
|
NM_004369.4(COL6A3):c.3270C>T (p.Asp1090=)
|
rs113781746
|
0.00178
|
NM_005198.5(CHKB):c.249C>T (p.Phe83=)
|
rs180979987
|
0.00176
|
NM_020451.3(SELENON):c.846C>T (p.Ser282=)
|
rs34177164
|
0.00175
|
NM_001848.3(COL6A1):c.1336-15C>T
|
rs201003020
|
0.00174
|
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)
|
rs113253213
|
0.00174
|
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)
|
rs117422805
|
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_013382.7(POMT2):c.*606G>A
|
rs141262145
|
0.00173
|
NM_173660.5(DOK7):c.921C>T (p.Ala307=)
|
rs138148221
|
0.00170
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_002206.3(ITGA7):c.2737C>T (p.Arg913Trp)
|
rs140030984
|
0.00169
|
NM_005198.5(CHKB):c.149A>G (p.Tyr50Cys)
|
rs138205828
|
0.00169
|
NM_001079802.2(FKTN):c.*3460G>A
|
rs539474742
|
0.00168
|
NM_001079802.2(FKTN):c.*3918A>G
|
rs17316607
|
0.00167
|
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=)
|
rs142554239
|
0.00167
|
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser)
|
rs41290704
|
0.00167
|
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=)
|
rs76092524
|
0.00166
|
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser)
|
rs141625803
|
0.00164
|
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_152490.5(B3GALNT2):c.1361G>C (p.Arg454Thr)
|
rs140350162
|
0.00163
|
NM_004370.6(COL12A1):c.1896C>T (p.Tyr632=)
|
rs201266825
|
0.00159
|
NM_013382.7(POMT2):c.1881G>A (p.Ala627=)
|
rs146588608
|
0.00158
|
NM_001849.4(COL6A2):c.1560C>G (p.Pro520=)
|
rs112197239
|
0.00156
|
NM_152490.5(B3GALNT2):c.361+19T>C
|
rs190977329
|
0.00155
|
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)
|
rs140534207
|
0.00154
|
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln)
|
rs144051476
|
0.00153
|
NM_173660.5(DOK7):c.532+18G>A
|
rs200487431
|
0.00153
|
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys)
|
rs185594460
|
0.00151
|
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)
|
rs181099904
|
0.00151
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
NM_013382.7(POMT2):c.1683T>C (p.Asn561=)
|
rs146307965
|
0.00148
|
NM_133642.5(LARGE1):c.-480C>T
|
rs886057469
|
0.00148
|
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_002206.3(ITGA7):c.610G>A (p.Ala204Thr)
|
rs76770808
|
0.00146
|
NM_001848.3(COL6A1):c.588+8C>G
|
rs398123638
|
0.00144
|
NM_024301.5(FKRP):c.567C>T (p.Pro189=)
|
rs201454433
|
0.00144
|
NM_001848.3(COL6A1):c.105C>G (p.Pro35=)
|
rs145579577
|
0.00143
|
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_001848.3(COL6A1):c.1644C>T (p.Asp548=)
|
rs182425338
|
0.00140
|
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=)
|
rs115076367
|
0.00140
|
NM_005198.5(CHKB):c.457T>C (p.Leu153=)
|
rs146693439
|
0.00138
|
NM_032237.5(POMK):c.564C>T (p.Ile188=)
|
rs55724435
|
0.00136
|
NM_001848.3(COL6A1):c.1776C>T (p.Asp592=)
|
rs148439285
|
0.00135
|
NM_002206.3(ITGA7):c.3150G>T (p.Leu1050=)
|
rs114735704
|
0.00135
|
NM_173660.5(DOK7):c.1480G>A (p.Val494Ile)
|
rs202073484
|
0.00135
|
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=)
|
rs138976133
|
0.00134
|
NM_133642.5(LARGE1):c.-455G>A
|
rs532736408
|
0.00134
|
NM_007171.3(POMT1):c.*694G>A
|
rs550900373
|
0.00133
|
NM_001848.3(COL6A1):c.2049C>T (p.Asn683=)
|
rs143695871
|
0.00132
|
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_133642.5(LARGE1):c.*100C>A
|
rs567278765
|
0.00131
|
NM_173660.5(DOK7):c.1008G>A (p.Ser336=)
|
rs185050737
|
0.00131
|
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=)
|
rs150219725
|
0.00130
|
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys)
|
rs149534094
|
0.00128
|
NM_001077365.2(POMT1):c.-168G>C
|
rs556267289
|
0.00127
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
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_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp)
|
rs116690555
|
0.00124
|
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)
|
rs183272965
|
0.00124
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
NM_001101426.4(CRPPA):c.790-14T>C
|
rs142414812
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
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_000426.4(LAMA2):c.1650C>T (p.Gly550=)
|
rs899353
|
0.00120
|
NM_003863.4(DPM2):c.64A>G (p.Thr22Ala)
|
rs7042788
|
0.00120
|
NM_020451.3(SELENON):c.1602+14C>T
|
rs41284307
|
0.00120
|
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)
|
rs142485035
|
0.00119
|
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)
|
rs150861748
|
0.00119
|
NM_001077365.2(POMT1):c.1486+14G>A
|
rs142995404
|
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_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr)
|
rs184556570
|
0.00117
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
NM_032237.5(POMK):c.618C>T (p.Asn206=)
|
rs7005111
|
0.00116
|
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
NM_002206.3(ITGA7):c.2401G>A (p.Val801Ile)
|
rs200397940
|
0.00114
|
NM_021971.4(GMPPB):c.1017C>T (p.Asn339=)
|
rs147074020
|
0.00113
|
NM_173660.5(DOK7):c.831C>T (p.Ala277=)
|
rs150549589
|
0.00113
|
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_004370.6(COL12A1):c.7898T>C (p.Val2633Ala)
|
rs200408101
|
0.00111
|
NM_013382.7(POMT2):c.*1603C>T
|
rs139267307
|
0.00111
|
NM_032237.5(POMK):c.886A>G (p.Ile296Val)
|
rs6990761
|
0.00111
|
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_024301.5(FKRP):c.520A>T (p.Ser174Cys)
|
rs200990647
|
0.00109
|
NM_133642.5(LARGE1):c.-481G>T
|
rs537756491
|
0.00109
|
NM_004393.6(DAG1):c.607A>T (p.Thr203Ser)
|
rs200094365
|
0.00108
|
NM_173660.5(DOK7):c.332-43_332-18del
|
rs781466203
|
0.00108
|
NM_013382.7(POMT2):c.*2072C>T
|
rs558857629
|
0.00107
|
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr)
|
rs149218670
|
0.00106
|
NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=)
|
rs139287952
|
0.00106
|
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)
|
rs199929757
|
0.00105
|
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_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_133642.5(LARGE1):c.408+8G>A
|
rs141818070
|
0.00103
|
NM_001849.4(COL6A2):c.115+6del
|
rs578127995
|
0.00102
|
NM_013382.7(POMT2):c.1593G>A (p.Leu531=)
|
rs147934334
|
0.00102
|
NM_133642.5(LARGE1):c.893-17C>G
|
rs139572378
|
0.00102
|
NM_173660.5(DOK7):c.641C>T (p.Pro214Leu)
|
rs147760280
|
0.00102
|
NM_001101426.4(CRPPA):c.790-11C>T
|
rs141363557
|
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_004370.6(COL12A1):c.7990A>G (p.Ile2664Val)
|
rs41266763
|
0.00101
|
NM_004370.6(COL12A1):c.8179-10A>G
|
rs142509363
|
0.00101
|
NM_021971.4(GMPPB):c.640+11G>A
|
rs191912441
|
0.00101
|
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)
|
rs144216539
|
0.00100
|
NM_001849.4(COL6A2):c.2751G>T (p.Val917=)
|
rs111341650
|
0.00099
|
NM_032237.5(POMK):c.882G>A (p.Gly294=)
|
rs56282240
|
0.00099
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
NM_173660.5(DOK7):c.331+9C>T
|
rs370879328
|
0.00098
|
NM_173660.5(DOK7):c.816C>G (p.His272Gln)
|
rs115614731
|
0.00098
|
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_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu)
|
rs115548605
|
0.00095
|
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)
|
rs143502850
|
0.00093
|
NM_133642.5(LARGE1):c.-271G>A
|
rs185068235
|
0.00093
|
NM_032806.6(POMGNT2):c.153C>T (p.Ile51=)
|
rs149543151
|
0.00092
|
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=)
|
rs146552975
|
0.00092
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00091
|
NM_001077365.2(POMT1):c.*182T>C
|
rs535816758
|
0.00091
|
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=)
|
rs61735833
|
0.00091
|
NM_004393.6(DAG1):c.2082C>T (p.Asn694=)
|
rs146453412
|
0.00091
|
NM_002206.3(ITGA7):c.1008C>T (p.Asp336=)
|
rs145114073
|
0.00090
|
NM_004369.4(COL6A3):c.91+11G>C
|
rs372744024
|
0.00089
|
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)
|
rs140553130
|
0.00088
|
NM_001101426.4(CRPPA):c.1251+16A>T
|
rs187344556
|
0.00088
|
NM_002206.3(ITGA7):c.139G>A (p.Glu47Lys)
|
rs77929806
|
0.00088
|
NM_005198.5(CHKB):c.670A>C (p.Asn224His)
|
rs149858290
|
0.00088
|
NM_001849.4(COL6A2):c.568G>A (p.Val190Met)
|
rs150877061
|
0.00087
|
NM_002206.3(ITGA7):c.791-7C>T
|
rs144699549
|
0.00087
|
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=)
|
rs373274913
|
0.00086
|
NM_004370.6(COL12A1):c.8753-19G>A
|
rs185465645
|
0.00086
|
NM_005198.5(CHKB):c.14C>T (p.Ala5Val)
|
rs199703765
|
0.00086
|
NM_005198.5(CHKB):c.737-7C>T
|
rs192728067
|
0.00086
|
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)
|
rs104894680
|
0.00086
|
NM_020451.3(SELENON):c.1596C>T (p.Gly532=)
|
rs149623434
|
0.00085
|
NM_001079802.2(FKTN):c.681G>A (p.Leu227=)
|
rs142604625
|
0.00084
|
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)
|
rs150098077
|
0.00083
|
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe)
|
rs149028067
|
0.00083
|
NM_004370.6(COL12A1):c.4958-7A>C
|
rs1332779
|
0.00083
|
NM_013382.7(POMT2):c.*758G>A
|
rs371632843
|
0.00083
|
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp)
|
rs141339355
|
0.00083
|
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met)
|
rs150907698
|
0.00082
|
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met)
|
rs150432347
|
0.00081
|
NM_002206.3(ITGA7):c.2651A>T (p.Glu884Val)
|
rs149963176
|
0.00081
|
NM_032806.6(POMGNT2):c.1388G>A (p.Arg463His)
|
rs143394182
|
0.00081
|
NM_133642.5(LARGE1):c.2001C>T (p.Cys667=)
|
rs116734942
|
0.00081
|
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_032237.5(POMK):c.20A>G (p.Asn7Ser)
|
rs143957574
|
0.00080
|
NM_001848.3(COL6A1):c.381C>T (p.Thr127=)
|
rs75180385
|
0.00078
|
NM_001077365.2(POMT1):c.986+9A>G
|
rs202095070
|
0.00077
|
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)
|
rs138674440
|
0.00077
|
NM_003863.3(DPM2):c.-587C>T
|
rs566910080
|
0.00077
|
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr)
|
rs112181324
|
0.00077
|
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_004369.4(COL6A3):c.1024G>A (p.Val342Met)
|
rs111402193
|
0.00076
|
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=)
|
rs115401779
|
0.00076
|
NM_017739.4(POMGNT1):c.*34G>A
|
rs200540049
|
0.00076
|
NM_170707.4(LMNA):c.1489-16C>G
|
rs201379016
|
0.00076
|
NM_002206.3(ITGA7):c.1659C>G (p.Pro553=)
|
rs144052152
|
0.00075
|
NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val)
|
rs148641361
|
0.00075
|
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg)
|
rs113153193
|
0.00075
|
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr)
|
rs141609058
|
0.00074
|
NM_004393.6(DAG1):c.2520T>C (p.Thr840=)
|
rs149564053
|
0.00074
|
NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln)
|
rs140708018
|
0.00074
|
NM_002206.3(ITGA7):c.3203C>T (p.Ala1068Val)
|
rs139136931
|
0.00073
|
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_004393.6(DAG1):c.331G>A (p.Asp111Asn)
|
rs117209107
|
0.00072
|
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg)
|
rs138162760
|
0.00071
|
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)
|
rs147143094
|
0.00071
|
NM_002206.3(ITGA7):c.1828G>A (p.Gly610Arg)
|
rs150583010
|
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_024301.5(FKRP):c.904G>A (p.Gly302Ser)
|
rs762283381
|
0.00071
|
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_133642.5(LARGE1):c.1962G>A (p.Glu654=)
|
rs141089495
|
0.00070
|
NM_152490.5(B3GALNT2):c.276C>T (p.Phe92=)
|
rs114039725
|
0.00070
|
NM_001079802.2(FKTN):c.*1010G>A
|
rs144159266
|
0.00068
|
NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met)
|
rs202011820
|
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_013382.7(POMT2):c.-142C>T
|
rs886050827
|
0.00068
|
NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg)
|
rs144158112
|
0.00068
|
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn)
|
rs141340479
|
0.00067
|
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_032806.6(POMGNT2):c.488A>G (p.Asn163Ser)
|
rs140389725
|
0.00067
|
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)
|
rs34505698
|
0.00066
|
NM_000426.4(LAMA2):c.6268+5G>C
|
rs182064878
|
0.00066
|
NM_002206.3(ITGA7):c.1722C>A (p.Ala574=)
|
rs142311782
|
0.00066
|
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)
|
rs148038440
|
0.00066
|
NM_013382.7(POMT2):c.1935C>T (p.Leu645=)
|
rs141193672
|
0.00066
|
NM_024301.5(FKRP):c.606G>A (p.Leu202=)
|
rs140084192
|
0.00066
|
NM_032806.6(POMGNT2):c.1602C>T (p.Tyr534=)
|
rs143832191
|
0.00066
|
NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu)
|
rs142882745
|
0.00065
|
NM_004370.6(COL12A1):c.190+14C>G
|
rs536848485
|
0.00065
|
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr)
|
rs144748043
|
0.00065
|
NM_003863.3(DPM2):c.-429G>T
|
rs192275912
|
0.00064
|
NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg)
|
rs182976977
|
0.00064
|
NM_152490.5(B3GALNT2):c.402C>T (p.Asp134=)
|
rs144848710
|
0.00064
|
NM_001849.4(COL6A2):c.2998A>G (p.Lys1000Glu)
|
rs151244310
|
0.00063
|
NM_002206.3(ITGA7):c.340A>G (p.Met114Val)
|
rs146565340
|
0.00063
|
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly)
|
rs189762594
|
0.00063
|
NM_173660.5(DOK7):c.202G>A (p.Gly68Ser)
|
rs376509451
|
0.00063
|
NM_001079802.2(FKTN):c.*712C>T
|
rs535353095
|
0.00062
|
NM_002206.3(ITGA7):c.2448G>A (p.Gln816=)
|
rs142376332
|
0.00062
|
NM_004369.4(COL6A3):c.6310-18C>T
|
rs112905665
|
0.00062
|
NM_013382.7(POMT2):c.1701C>G (p.Pro567=)
|
rs151051452
|
0.00062
|
NM_024301.5(FKRP):c.969C>T (p.Arg323=)
|
rs532054402
|
0.00062
|
NM_001077365.2(POMT1):c.2004-20C>T
|
rs372767898
|
0.00061
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
NM_002206.3(ITGA7):c.537G>A (p.Gly179=)
|
rs145463677
|
0.00061
|
NM_003863.3(DPM2):c.*627C>T
|
rs544907409
|
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_013382.7(POMT2):c.1903G>A (p.Val635Ile)
|
rs142299878
|
0.00061
|
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=)
|
rs146121135
|
0.00061
|
NM_020451.3(SELENON):c.1282-10G>A
|
rs556910756
|
0.00060
|
NM_024301.5(FKRP):c.636G>A (p.Ala212=)
|
rs370099812
|
0.00060
|
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=)
|
rs116817879
|
0.00059
|
NM_006876.3(B4GAT1):c.69G>C (p.Ala23=)
|
rs146812867
|
0.00059
|
NM_021971.4(GMPPB):c.951+9G>A
|
rs55816606
|
0.00059
|
NM_032806.6(POMGNT2):c.561C>T (p.His187=)
|
rs147429438
|
0.00059
|
NM_133642.5(LARGE1):c.-194G>A
|
rs530725597
|
0.00059
|
NM_173660.5(DOK7):c.1020C>T (p.Ile340=)
|
rs370838856
|
0.00059
|
NM_004369.4(COL6A3):c.7685T>C (p.Val2562Ala)
|
rs143631346
|
0.00058
|
NM_032806.6(POMGNT2):c.1219C>T (p.Arg407Trp)
|
rs138480528
|
0.00058
|
NM_001079802.2(FKTN):c.-77A>G
|
rs188804693
|
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_024301.5(FKRP):c.531G>A (p.Glu177=)
|
rs768007208
|
0.00057
|
NM_032237.5(POMK):c.565A>G (p.Ile189Val)
|
rs149297443
|
0.00057
|
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)
|
rs116164106
|
0.00057
|
NM_001101426.4(CRPPA):c.222G>A (p.Arg74=)
|
rs769058832
|
0.00056
|
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp)
|
rs117173425
|
0.00056
|
NM_001079802.2(FKTN):c.*100G>A
|
rs542491025
|
0.00055
|
NM_032806.6(POMGNT2):c.1740G>A (p.Thr580=)
|
rs148890110
|
0.00055
|
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_020451.3(SELENON):c.415G>A (p.Ala139Thr)
|
rs201692549
|
0.00054
|
NM_020451.3(SELENON):c.427G>A (p.Glu143Lys)
|
rs200958015
|
0.00054
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg)
|
rs147185142
|
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_001848.3(COL6A1):c.997G>A (p.Val333Met)
|
rs201525908
|
0.00052
|
NM_001849.4(COL6A2):c.791G>A (p.Arg264His)
|
rs148029276
|
0.00052
|
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)
|
rs148975262
|
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_004393.6(DAG1):c.1212G>A (p.Thr404=)
|
rs139781017
|
0.00051
|
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn)
|
rs200992827
|
0.00051
|
NM_170707.4(LMNA):c.-128T>C
|
rs80356803
|
0.00051
|
NM_001077365.2(POMT1):c.42C>T (p.Asp14=)
|
rs150937126
|
0.00050
|
NM_001079802.2(FKTN):c.285T>C (p.His95=)
|
rs148046151
|
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_004370.6(COL12A1):c.7950+18T>G
|
rs141529820
|
0.00049
|
NM_017739.4(POMGNT1):c.421-7C>A
|
rs189274856
|
0.00049
|
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_004370.6(COL12A1):c.2588G>A (p.Gly863Glu)
|
rs370388701
|
0.00048
|
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile)
|
rs148759919
|
0.00048
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
NM_000426.4(LAMA2):c.6269-831C>G
|
rs371162111
|
0.00047
|
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys)
|
rs147044263
|
0.00047
|
NM_001848.3(COL6A1):c.738+14C>T
|
rs374896651
|
0.00046
|
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)
|
rs147158850
|
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_152490.5(B3GALNT2):c.1368+13G>T
|
rs372425330
|
0.00046
|
NM_173660.5(DOK7):c.296C>T (p.Ala99Val)
|
rs138010842
|
0.00046
|
NM_001077365.2(POMT1):c.1365+15C>T
|
rs58896330
|
0.00045
|
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe)
|
rs200334999
|
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_173660.5(DOK7):c.1258C>G (p.Pro420Ala)
|
rs150497723
|
0.00045
|
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_002206.3(ITGA7):c.284C>T (p.Pro95Leu)
|
rs143749139
|
0.00044
|
NM_004369.4(COL6A3):c.7779C>T (p.Ile2593=)
|
rs144249704
|
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_032237.5(POMK):c.1013T>G (p.Leu338Arg)
|
rs200555259
|
0.00044
|
NM_032806.6(POMGNT2):c.828C>T (p.Asn276=)
|
rs150404794
|
0.00044
|
NM_001849.4(COL6A2):c.2181G>A (p.Ala727=)
|
rs111938213
|
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_013382.7(POMT2):c.1404A>G (p.Lys468=)
|
rs150491326
|
0.00043
|
NM_173660.5(DOK7):c.1029C>T (p.Gly343=)
|
rs375877997
|
0.00043
|
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_021971.4(GMPPB):c.309T>C (p.Pro103=)
|
rs147516683
|
0.00042
|
NM_001079802.2(FKTN):c.*2910C>A
|
rs148937517
|
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_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu)
|
rs143223962
|
0.00041
|
NM_013382.7(POMT2):c.2086C>A (p.Pro696Thr)
|
rs76700503
|
0.00041
|
NM_013382.7(POMT2):c.656+16C>G
|
rs200230662
|
0.00041
|
NM_133642.5(LARGE1):c.409-19C>T
|
rs374692757
|
0.00041
|
NM_001848.3(COL6A1):c.1015T>C (p.Tyr339His)
|
rs186775751
|
0.00040
|
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys)
|
rs200201449
|
0.00040
|
NM_032806.6(POMGNT2):c.239G>A (p.Arg80His)
|
rs146511234
|
0.00040
|
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)
|
rs192317605
|
0.00039
|
NM_001079802.2(FKTN):c.*1249C>T
|
rs79589823
|
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_013382.7(POMT2):c.1786-18A>G
|
rs193173216
|
0.00039
|
NM_133642.5(LARGE1):c.*823_*824dup
|
rs140177888
|
0.00039
|
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_003863.4(DPM2):c.*553G>A
|
rs886063480
|
0.00038
|
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=)
|
rs189772397
|
0.00038
|
NM_013382.7(POMT2):c.2148-17C>G
|
rs201328470
|
0.00038
|
NM_017739.4(POMGNT1):c.534+15C>T
|
rs141676863
|
0.00038
|
NM_032806.6(POMGNT2):c.465C>T (p.Ile155=)
|
rs140578716
|
0.00038
|
NM_173660.5(DOK7):c.577A>G (p.Ser193Gly)
|
rs139133047
|
0.00038
|
NM_001077365.2(POMT1):c.*613C>T
|
rs551579745
|
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_173660.5(DOK7):c.332-5C>T
|
rs375468951
|
0.00037
|
NM_001848.3(COL6A1):c.1096G>A (p.Ala366Thr)
|
rs183994910
|
0.00036
|
NM_002206.3(ITGA7):c.2713-8G>A
|
rs372485093
|
0.00036
|
NM_004369.4(COL6A3):c.3755G>A (p.Arg1252His)
|
rs201314411
|
0.00036
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
0.00036
|
NM_032806.6(POMGNT2):c.119G>A (p.Arg40Gln)
|
rs146229269
|
0.00036
|
NM_032806.6(POMGNT2):c.438G>A (p.Pro146=)
|
rs375314883
|
0.00036
|
NM_152490.5(B3GALNT2):c.369T>C (p.Asn123=)
|
rs149734145
|
0.00036
|
NM_173660.5(DOK7):c.1225C>T (p.Arg409Cys)
|
rs199606134
|
0.00036
|
NM_173660.5(DOK7):c.972G>A (p.Pro324=)
|
rs373041663
|
0.00036
|
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_021971.4(GMPPB):c.729G>A (p.Arg243=)
|
rs370448223
|
0.00035
|
NM_133642.5(LARGE1):c.*796C>T
|
rs144150303
|
0.00035
|
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_005198.5(CHKB):c.597C>T (p.Ile199=)
|
rs146409721
|
0.00034
|
NM_013382.7(POMT2):c.*196G>A
|
rs773072355
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)
|
rs138330966
|
0.00034
|
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_002206.3(ITGA7):c.671G>C (p.Gly224Ala)
|
rs537950420
|
0.00033
|
NM_002206.3(ITGA7):c.999-4A>G
|
rs370741662
|
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_013382.7(POMT2):c.*1805G>A
|
rs184473107
|
0.00033
|
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)
|
rs140724142
|
0.00033
|
NM_032806.6(POMGNT2):c.1162C>T (p.Leu388Phe)
|
rs139060322
|
0.00033
|
NM_133642.5(LARGE1):c.*998A>G
|
rs886057455
|
0.00033
|
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)
|
rs145387221
|
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_002206.3(ITGA7):c.1765A>C (p.Ile589Leu)
|
rs200065922
|
0.00032
|
NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr)
|
rs114596320
|
0.00032
|
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His)
|
rs201345883
|
0.00032
|
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe)
|
rs185213208
|
0.00032
|
NM_153741.2(DPM3):c.55G>T (p.Val19Leu)
|
rs141877691
|
0.00032
|
NM_173660.5(DOK7):c.313C>T (p.Arg105Cys)
|
rs115883468
|
0.00032
|
NM_001077365.2(POMT1):c.855+6T>C
|
rs200692465
|
0.00031
|
NM_001378328.1(CELSR1):c.1210G>A (p.Glu404Lys)
|
rs201107590
|
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_002206.3(ITGA7):c.2710C>T (p.Leu904=)
|
rs200149396
|
0.00031
|
NM_002206.3(ITGA7):c.999-15T>C
|
rs201174804
|
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_021971.4(GMPPB):c.1065G>A (p.Glu355=)
|
rs143218268
|
0.00031
|
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp)
|
rs144236975
|
0.00031
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_032806.6(POMGNT2):c.780A>G (p.Ser260=)
|
rs371749889
|
0.00031
|
NM_173660.5(DOK7):c.975G>A (p.Arg325=)
|
rs370661591
|
0.00031
|
NM_001077365.2(POMT1):c.1175+16G>A
|
rs371908251
|
0.00030
|
NM_001301071.2(DOK7):c.1594G>A (p.Glu532Lys)
|
rs754345718
|
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_173660.5(DOK7):c.567G>A (p.Gly189=)
|
rs141808910
|
0.00030
|
NM_001077365.2(POMT1):c.1698+10C>A
|
rs184131819
|
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_002206.3(ITGA7):c.1681G>A (p.Val561Met)
|
rs150089409
|
0.00029
|
NM_002206.3(ITGA7):c.2035C>A (p.Leu679Met)
|
rs142326016
|
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_020451.3(SELENON):c.1428G>A (p.Ser476=)
|
rs41284305
|
0.00029
|
NM_020451.3(SELENON):c.716G>A (p.Arg239His)
|
rs199709671
|
0.00029
|
NM_133642.5(LARGE1):c.*798G>A
|
rs778063005
|
0.00029
|
NM_152490.5(B3GALNT2):c.1215C>T (p.Pro405=)
|
rs145518904
|
0.00029
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812
|
0.00029
|
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys)
|
rs777626370
|
0.00029
|
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr)
|
rs146490004
|
0.00028
|
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln)
|
rs367658663
|
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_020451.3(SELENON):c.1092+16G>C
|
rs199937216
|
0.00028
|
NM_020451.3(SELENON):c.4G>T (p.Gly2Cys)
|
rs982364753
|
0.00028
|
NM_032237.5(POMK):c.759C>T (p.Phe253=)
|
rs201232766
|
0.00028
|
NM_152490.5(B3GALNT2):c.1151+14T>C
|
rs376973193
|
0.00028
|
NM_153741.2(DPM3):c.112C>T (p.Leu38=)
|
rs368529799
|
0.00028
|
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_003863.3(DPM2):c.-211T>G
|
rs187834148
|
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_013382.7(POMT2):c.1195C>T (p.Pro399Ser)
|
rs200821647
|
0.00027
|
NM_013382.7(POMT2):c.66C>T (p.Gly22=)
|
rs200670377
|
0.00027
|
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile)
|
rs56239539
|
0.00027
|
NM_173660.5(DOK7):c.208C>A (p.Pro70Thr)
|
rs539190403
|
0.00027
|
NM_173660.5(DOK7):c.839G>A (p.Arg280Gln)
|
rs144269117
|
0.00027
|
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn)
|
rs749423866
|
0.00026
|
NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr)
|
rs142264176
|
0.00026
|
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val)
|
rs146854942
|
0.00026
|
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=)
|
rs138902646
|
0.00026
|
NM_001079802.2(FKTN):c.*1843A>T
|
rs117283748
|
0.00026
|
NM_001079802.2(FKTN):c.*3516T>C
|
rs1041010308
|
0.00026
|
NM_001079802.2(FKTN):c.910+13C>T
|
rs375259473
|
0.00026
|
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=)
|
rs376909665
|
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_002206.3(ITGA7):c.2844+19C>T
|
rs141542046
|
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_005198.5(CHKB):c.38C>T (p.Ala13Val)
|
rs779585255
|
0.00026
|
NM_013382.7(POMT2):c.1944A>G (p.Thr648=)
|
rs148146976
|
0.00026
|
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn)
|
rs375217032
|
0.00026
|
NM_017739.4(POMGNT1):c.1284+9G>C
|
rs565797493
|
0.00026
|
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr)
|
rs776947530
|
0.00026
|
NM_032806.6(POMGNT2):c.1113C>T (p.Pro371=)
|
rs772146015
|
0.00026
|
NM_032806.6(POMGNT2):c.71G>A (p.Arg24Gln)
|
rs139245562
|
0.00026
|
NM_133642.5(LARGE1):c.535G>A (p.Glu179Lys)
|
rs370128137
|
0.00026
|
NM_173660.5(DOK7):c.1205G>A (p.Arg402Gln)
|
rs370039804
|
0.00026
|
NM_173660.5(DOK7):c.32T>C (p.Val11Ala)
|
rs375168516
|
0.00026
|
NM_001079802.2(FKTN):c.102A>C (p.Thr34=)
|
rs138740640
|
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_002206.3(ITGA7):c.1404C>A (p.Leu468=)
|
rs142248173
|
0.00025
|
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter)
|
rs200390529
|
0.00025
|
NM_002206.3(ITGA7):c.799A>G (p.Ile267Val)
|
rs201469044
|
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_133642.5(LARGE1):c.178C>T (p.Arg60Trp)
|
rs142135345
|
0.00025
|
NM_133642.5(LARGE1):c.1878-11G>T
|
rs200819807
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg)
|
rs139739075
|
0.00024
|
NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His)
|
rs144830879
|
0.00024
|
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val)
|
rs199682341
|
0.00024
|
NM_001077365.2(POMT1):c.1671T>C (p.Ile557=)
|
rs200969468
|
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_002206.3(ITGA7):c.2087C>T (p.Ser696Leu)
|
rs76938320
|
0.00024
|
NM_002206.3(ITGA7):c.609C>T (p.Ala203=)
|
rs140554289
|
0.00024
|
NM_003863.3(DPM2):c.-612G>C
|
rs886063487
|
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_004393.6(DAG1):c.920C>G (p.Pro307Arg)
|
rs374092106
|
0.00024
|
NM_013382.7(POMT2):c.*622C>G
|
rs886050819
|
0.00024
|
NM_017739.4(POMGNT1):c.1649+19G>A
|
rs200158493
|
0.00024
|
NM_017739.4(POMGNT1):c.1786-6C>T
|
rs202028128
|
0.00024
|
NM_021971.4(GMPPB):c.562-9C>A
|
rs183240200
|
0.00024
|
NM_021971.4(GMPPB):c.702G>A (p.Gln234=)
|
rs368795315
|
0.00024
|
NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=)
|
rs766891631
|
0.00024
|
NM_173660.5(DOK7):c.54+23_54+24insA
|
rs759348603
|
0.00024
|
NM_173660.5(DOK7):c.668G>A (p.Gly223Glu)
|
rs146895834
|
0.00024
|
NM_001077365.2(POMT1):c.539+19C>T
|
rs376642449
|
0.00023
|
NM_001077365.2(POMT1):c.629C>T (p.Thr210Met)
|
rs377037072
|
0.00023
|
NM_001848.3(COL6A1):c.2464+19G>A
|
rs200297915
|
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_013382.7(POMT2):c.1691C>T (p.Thr564Met)
|
rs142445941
|
0.00023
|
NM_024301.5(FKRP):c.717C>T (p.Thr239=)
|
rs762375285
|
0.00023
|
NM_032806.6(POMGNT2):c.77G>A (p.Arg26His)
|
rs143667339
|
0.00023
|
NM_133642.5(LARGE1):c.*155C>T
|
rs551266967
|
0.00023
|
NM_133642.5(LARGE1):c.492-11A>G
|
rs142978441
|
0.00023
|
NM_170707.4(LMNA):c.1698+83G>A
|
rs555844506
|
0.00023
|
NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu)
|
rs141235562
|
0.00022
|
NM_001101426.4(CRPPA):c.684+12G>C
|
rs376232862
|
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_005198.5(CHKB):c.263C>T (p.Pro88Leu)
|
rs146163970
|
0.00022
|
NM_005198.5(CHKB):c.853G>T (p.Val285Phe)
|
rs754327744
|
0.00022
|
NM_005198.5(CHKB):c.902C>T (p.Thr301Ile)
|
rs147485527
|
0.00022
|
NM_013382.7(POMT2):c.*2165T>C
|
rs770272986
|
0.00022
|
NM_013382.7(POMT2):c.293A>G (p.Asn98Ser)
|
rs368034790
|
0.00022
|
NM_020451.3(SELENON):c.1603-14G>A
|
rs370300935
|
0.00022
|
NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser)
|
rs184127567
|
0.00022
|
NM_024301.5(FKRP):c.885C>T (p.Arg295=)
|
rs769005880
|
0.00022
|
NM_032806.6(POMGNT2):c.1402C>T (p.Arg468Trp)
|
rs137873804
|
0.00022
|
NM_133642.5(LARGE1):c.651T>A (p.Ser217=)
|
rs143547253
|
0.00022
|
NM_152490.5(B3GALNT2):c.465C>T (p.Ile155=)
|
rs138058326
|
0.00022
|
NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser)
|
rs377555406
|
0.00022
|
NM_173660.5(DOK7):c.282C>T (p.His94=)
|
rs377025553
|
0.00022
|
NM_173660.5(DOK7):c.846C>T (p.Thr282=)
|
rs141147662
|
0.00022
|
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys)
|
rs374888837
|
0.00021
|
NM_000426.4(LAMA2):c.8920A>T (p.Thr2974Ser)
|
rs140202046
|
0.00021
|
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser)
|
rs146234177
|
0.00021
|
NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys)
|
rs145464516
|
0.00021
|
NM_001077365.2(POMT1):c.1614C>T (p.Asp538=)
|
rs141933812
|
0.00021
|
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe)
|
rs201073763
|
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_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_017739.4(POMGNT1):c.1070A>T (p.Gln357Leu)
|
rs374871234
|
0.00021
|
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)
|
rs139701867
|
0.00021
|
NM_020451.3(SELENON):c.1041C>T (p.Tyr347=)
|
rs113867228
|
0.00021
|
NM_021971.4(GMPPB):c.939C>T (p.Arg313=)
|
rs147714661
|
0.00021
|
NM_133642.5(LARGE1):c.*699G>A
|
rs760092745
|
0.00021
|
NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu)
|
rs140393851
|
0.00021
|
NM_173660.5(DOK7):c.665C>T (p.Pro222Leu)
|
rs141141719
|
0.00021
|
NM_001077365.2(POMT1):c.1116T>C (p.Pro372=)
|
rs146945848
|
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_002206.3(ITGA7):c.1023C>T (p.Ala341=)
|
rs367953820
|
0.00020
|
NM_002206.3(ITGA7):c.1460G>A (p.Ser487Asn)
|
rs140619961
|
0.00020
|
NM_005198.5(CHKB):c.819-18T>G
|
rs550228390
|
0.00020
|
NM_013382.7(POMT2):c.*1252C>A
|
rs569143920
|
0.00020
|
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)
|
rs398124359
|
0.00020
|
NM_032237.5(POMK):c.609C>T (p.Cys203=)
|
rs567303957
|
0.00020
|
NM_000426.4(LAMA2):c.7415G>T (p.Gly2472Val)
|
rs200921233
|
0.00019
|
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)
|
rs149033995
|
0.00019
|
NM_001101426.4(CRPPA):c.531C>T (p.His177=)
|
rs376195897
|
0.00019
|
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=)
|
rs371300262
|
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_002206.3(ITGA7):c.1317C>T (p.Phe439=)
|
rs200714716
|
0.00019
|
NM_002206.3(ITGA7):c.1506-10G>A
|
rs370761565
|
0.00019
|
NM_002206.3(ITGA7):c.3287C>T (p.Thr1096Met)
|
rs200485048
|
0.00019
|
NM_002206.3(ITGA7):c.892C>T (p.Arg298Cys)
|
rs201594532
|
0.00019
|
NM_003863.3(DPM2):c.-523C>A
|
rs1010662067
|
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_013382.7(POMT2):c.*2053C>A
|
rs759715686
|
0.00019
|
NM_013382.7(POMT2):c.1397G>A (p.Arg466Gln)
|
rs138266415
|
0.00019
|
NM_017739.4(POMGNT1):c.120+3A>G
|
rs543271070
|
0.00019
|
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
NM_032237.5(POMK):c.44G>A (p.Arg15Gln)
|
rs377725187
|
0.00019
|
NM_133642.5(LARGE1):c.-343C>A
|
rs886057467
|
0.00019
|
NM_133642.5(LARGE1):c.1675A>G (p.Met559Val)
|
rs191368661
|
0.00019
|
NM_152490.5(B3GALNT2):c.1474G>A (p.Gly492Ser)
|
rs772910525
|
0.00019
|
NM_152490.5(B3GALNT2):c.400G>C (p.Asp134His)
|
rs370993648
|
0.00019
|
NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu)
|
rs377757018
|
0.00019
|
NM_173660.5(DOK7):c.1091G>A (p.Arg364Gln)
|
rs201304841
|
0.00019
|
NM_173660.5(DOK7):c.1320C>T (p.Ala440=)
|
rs368868378
|
0.00019
|
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_002206.3(ITGA7):c.1737+16T>G
|
rs202160006
|
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_004393.6(DAG1):c.1829C>T (p.Ala610Val)
|
rs537920451
|
0.00018
|
NM_020451.3(SELENON):c.980G>A (p.Arg327His)
|
rs556232275
|
0.00018
|
NM_021971.4(GMPPB):c.129+17G>A
|
rs375887616
|
0.00018
|
NM_133642.5(LARGE1):c.*455C>T
|
rs886057460
|
0.00018
|
NM_173660.5(DOK7):c.54+31G>T
|
rs762404326
|
0.00018
|
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile)
|
rs371403343
|
0.00017
|
NM_000426.4(LAMA2):c.8989-12C>G
|
rs144860334
|
0.00017
|
NM_001077365.2(POMT1):c.*614G>A
|
rs373680261
|
0.00017
|
NM_001077365.2(POMT1):c.1175+15C>T
|
rs200398689
|
0.00017
|
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)
|
rs199498900
|
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_002206.3(ITGA7):c.2844+17C>A
|
rs752052966
|
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_004393.6(DAG1):c.1308G>A (p.Thr436=)
|
rs143763229
|
0.00017
|
NM_004393.6(DAG1):c.1360C>T (p.Arg454Trp)
|
rs369872091
|
0.00017
|
NM_013382.7(POMT2):c.1627C>A (p.Leu543Met)
|
rs367552151
|
0.00017
|
NM_014254.3(RXYLT1):c.237C>G (p.His79Gln)
|
rs200620643
|
0.00017
|
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=)
|
rs367848204
|
0.00017
|
NM_020451.3(SELENON):c.1638C>T (p.Ile546=)
|
rs201066183
|
0.00017
|
NM_032237.5(POMK):c.136C>T (p.Arg46Ter)
|
rs202036744
|
0.00017
|
NM_032237.5(POMK):c.373A>T (p.Met125Leu)
|
rs146303063
|
0.00017
|
NM_032806.6(POMGNT2):c.1304T>C (p.Leu435Pro)
|
rs142458115
|
0.00017
|
NM_133642.5(LARGE1):c.2004G>A (p.Pro668=)
|
rs368231947
|
0.00017
|
NM_133642.5(LARGE1):c.584G>A (p.Arg195His)
|
rs147597912
|
0.00017
|
NM_173660.5(DOK7):c.1090C>T (p.Arg364Trp)
|
rs577156980
|
0.00017
|
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)
|
rs369292604
|
0.00017
|
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys)
|
rs145885540
|
0.00016
|
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)
|
rs144338642
|
0.00016
|
NM_001079802.2(FKTN):c.*1845G>T
|
rs886063328
|
0.00016
|
NM_001079802.2(FKTN):c.*5356C>T
|
rs553575648
|
0.00016
|
NM_001079802.2(FKTN):c.*71C>T
|
rs747766931
|
0.00016
|
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu)
|
rs770257307
|
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_003863.3(DPM2):c.-141G>A
|
rs886063485
|
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_004393.6(DAG1):c.1719C>T (p.His573=)
|
rs146157416
|
0.00016
|
NM_005198.5(CHKB):c.-27G>A
|
rs367729011
|
0.00016
|
NM_006876.3(B4GAT1):c.895A>G (p.Thr299Ala)
|
rs372380407
|
0.00016
|
NM_013382.7(POMT2):c.1206A>C (p.Pro402=)
|
rs142479943
|
0.00016
|
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser)
|
rs199743727
|
0.00016
|
NM_013382.7(POMT2):c.2083T>A (p.Trp695Arg)
|
rs139308429
|
0.00016
|
NM_013382.7(POMT2):c.2127G>A (p.Leu709=)
|
rs138142899
|
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_024301.5(FKRP):c.1136G>A (p.Arg379Gln)
|
rs140217866
|
0.00016
|
NM_032806.6(POMGNT2):c.1070G>A (p.Arg357His)
|
rs144487961
|
0.00016
|
NM_032806.6(POMGNT2):c.1114G>A (p.Asp372Asn)
|
rs147129872
|
0.00016
|
NM_032806.6(POMGNT2):c.1390G>A (p.Val464Met)
|
rs150901131
|
0.00016
|
NM_133642.5(LARGE1):c.-247T>G
|
rs886057463
|
0.00016
|
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met)
|
rs368043810
|
0.00016
|
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met)
|
rs142756842
|
0.00016
|
NM_153741.2(DPM3):c.249C>A (p.Ala83=)
|
rs193215070
|
0.00016
|
NM_173660.5(DOK7):c.1352G>A (p.Arg451Gln)
|
rs200675356
|
0.00016
|
NM_173660.5(DOK7):c.765C>A (p.Gly255=)
|
rs138215484
|
0.00016
|
NM_173660.5(DOK7):c.772+14C>G
|
rs201023802
|
0.00016
|
NM_173660.5(DOK7):c.957C>G (p.Pro319=)
|
rs777573281
|
0.00016
|
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu)
|
rs200508760
|
0.00015
|
NM_001077365.2(POMT1):c.606-15G>C
|
rs201897506
|
0.00015
|
NM_001079802.2(FKTN):c.*2433G>A
|
rs886063329
|
0.00015
|
NM_001079802.2(FKTN):c.333T>C (p.Thr111=)
|
rs141729611
|
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_002206.3(ITGA7):c.2536-15C>G
|
rs142180981
|
0.00015
|
NM_003863.3(DPM2):c.*632T>C
|
rs371958283
|
0.00015
|
NM_003863.4(DPM2):c.154G>A (p.Ala52Thr)
|
rs147263320
|
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_004393.6(DAG1):c.1757C>T (p.Ser586Leu)
|
rs371990100
|
0.00015
|
NM_004393.6(DAG1):c.402C>T (p.Ser134=)
|
rs367603470
|
0.00015
|
NM_013382.7(POMT2):c.656+3C>G
|
rs561052172
|
0.00015
|
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His)
|
rs544816408
|
0.00015
|
NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp)
|
rs200363064
|
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_024301.5(FKRP):c.1405C>T (p.Leu469=)
|
rs143129484
|
0.00015
|
NM_024301.5(FKRP):c.336C>T (p.Ala112=)
|
rs1054339656
|
0.00015
|
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met)
|
rs370971334
|
0.00014
|
NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser)
|
rs143664472
|
0.00014
|
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr)
|
rs780695627
|
0.00014
|
NM_000426.4(LAMA2):c.9188C>A (p.Pro3063His)
|
rs151285465
|
0.00014
|
NM_001077365.2(POMT1):c.129C>T (p.Asp43=)
|
rs200465419
|
0.00014
|
NM_001077365.2(POMT1):c.246C>T (p.Phe82=)
|
rs148887050
|
0.00014
|
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile)
|
rs190112934
|
0.00014
|
NM_001079802.2(FKTN):c.*1017A>G
|
rs886063324
|
0.00014
|
NM_001079802.2(FKTN):c.*1681G>A
|
rs886063327
|
0.00014
|
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln)
|
rs146049441
|
0.00014
|
NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys)
|
rs202126749
|
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_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_004393.6(DAG1):c.372T>G (p.Thr124=)
|
rs555051245
|
0.00014
|
NM_004393.6(DAG1):c.965C>T (p.Thr322Ile)
|
rs376602004
|
0.00014
|
NM_005198.5(CHKB):c.34G>A (p.Gly12Arg)
|
rs533374333
|
0.00014
|
NM_005198.5(CHKB):c.621C>T (p.Leu207=)
|
rs372742172
|
0.00014
|
NM_013382.7(POMT2):c.36C>A (p.Ser12=)
|
rs771074829
|
0.00014
|
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=)
|
rs146237009
|
0.00014
|
NM_020451.3(SELENON):c.81C>T (p.Arg27=)
|
rs886038660
|
0.00014
|
NM_021971.4(GMPPB):c.887G>A (p.Arg296Gln)
|
rs144040971
|
0.00014
|
NM_032806.6(POMGNT2):c.1466G>A (p.Arg489Gln)
|
rs140400295
|
0.00014
|
NM_032806.6(POMGNT2):c.162G>A (p.Pro54=)
|
rs755111895
|
0.00014
|
NM_032806.6(POMGNT2):c.650G>A (p.Arg217Gln)
|
rs368280765
|
0.00014
|
NM_133642.5(LARGE1):c.179G>A (p.Arg60Gln)
|
rs147620818
|
0.00014
|
NM_173660.5(DOK7):c.1233T>C (p.Leu411=)
|
rs539706052
|
0.00014
|
NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser)
|
rs139774354
|
0.00013
|
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)
|
rs374912618
|
0.00013
|
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)
|
rs886041302
|
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_002206.3(ITGA7):c.1807C>T (p.Arg603Trp)
|
rs375836925
|
0.00013
|
NM_002206.3(ITGA7):c.517C>T (p.Arg173Trp)
|
rs368130279
|
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_004393.6(DAG1):c.613A>G (p.Lys205Glu)
|
rs145871499
|
0.00013
|
NM_005198.5(CHKB):c.275C>T (p.Pro92Leu)
|
rs140867913
|
0.00013
|
NM_006876.3(B4GAT1):c.1056+7A>T
|
rs373100703
|
0.00013
|
NM_013382.7(POMT2):c.1337G>A (p.Gly446Glu)
|
rs376649599
|
0.00013
|
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly)
|
rs550420394
|
0.00013
|
NM_013382.7(POMT2):c.1920C>T (p.Gly640=)
|
rs150755807
|
0.00013
|
NM_013382.7(POMT2):c.648C>T (p.Cys216=)
|
rs147871747
|
0.00013
|
NM_017739.4(POMGNT1):c.7G>T (p.Asp3Tyr)
|
rs201637813
|
0.00013
|
NM_021971.4(GMPPB):c.403-6A>G
|
rs377689496
|
0.00013
|
NM_024301.5(FKRP):c.828A>G (p.Leu276=)
|
rs745994685
|
0.00013
|
NM_032237.5(POMK):c.589G>T (p.Val197Leu)
|
rs374943200
|
0.00013
|
NM_133642.5(LARGE1):c.1577G>A (p.Arg526His)
|
rs536420427
|
0.00013
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
NM_173660.5(DOK7):c.1346C>T (p.Thr449Met)
|
rs373864257
|
0.00013
|
NM_173660.5(DOK7):c.596T>G (p.Ile199Ser)
|
rs148650015
|
0.00013
|
NM_173660.5(DOK7):c.752C>T (p.Ala251Val)
|
rs376251309
|
0.00013
|
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp)
|
rs139824017
|
0.00012
|
NM_000426.4(LAMA2):c.725G>A (p.Arg242His)
|
rs373570586
|
0.00012
|
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=)
|
rs373482514
|
0.00012
|
NM_001077365.2(POMT1):c.396C>T (p.Ala132=)
|
rs375288218
|
0.00012
|
NM_001077365.2(POMT1):c.568C>T (p.Leu190=)
|
rs752931210
|
0.00012
|
NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser)
|
rs369832637
|
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_002206.3(ITGA7):c.3002A>T (p.Asn1001Ile)
|
rs201796615
|
0.00012
|
NM_002206.3(ITGA7):c.3388G>A (p.Gly1130Arg)
|
rs770066237
|
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_004393.6(DAG1):c.1799A>G (p.Gln600Arg)
|
rs369180031
|
0.00012
|
NM_004393.6(DAG1):c.286-10del
|
rs747305463
|
0.00012
|
NM_005198.5(CHKB):c.501T>G (p.Ile167Met)
|
rs199704510
|
0.00012
|
NM_013382.7(POMT2):c.1889C>T (p.Ala630Val)
|
rs752214239
|
0.00012
|
NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg)
|
rs145516652
|
0.00012
|
NM_017739.4(POMGNT1):c.1536T>C (p.Phe512=)
|
rs367596859
|
0.00012
|
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)
|
rs146933218
|
0.00012
|
NM_024301.5(FKRP):c.654G>A (p.Val218=)
|
rs749320485
|
0.00012
|
NM_024301.5(FKRP):c.954C>T (p.Cys318=)
|
rs755968761
|
0.00012
|
NM_032806.6(POMGNT2):c.195A>G (p.Thr65=)
|
rs199992681
|
0.00012
|
NM_032806.6(POMGNT2):c.422G>A (p.Arg141His)
|
rs576598140
|
0.00012
|
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
0.00012
|
NM_152490.5(B3GALNT2):c.959T>C (p.Ile320Thr)
|
rs148808160
|
0.00012
|
NM_170707.4(LMNA):c.811-12C>T
|
rs372962650
|
0.00012
|
NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys)
|
rs140604077
|
0.00011
|
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser)
|
rs143638361
|
0.00011
|
NM_000426.4(LAMA2):c.8907C>T (p.Arg2969=)
|
rs367622610
|
0.00011
|
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)
|
rs202140413
|
0.00011
|
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=)
|
rs200916353
|
0.00011
|
NM_001077365.2(POMT1):c.281-5T>C
|
rs367743923
|
0.00011
|
NM_001077365.2(POMT1):c.875C>G (p.Thr292Ser)
|
rs376471064
|
0.00011
|
NM_001077365.2(POMT1):c.921G>T (p.Leu307=)
|
rs371243573
|
0.00011
|
NM_001079802.2(FKTN):c.*2508G>T
|
rs886063330
|
0.00011
|
NM_001079802.2(FKTN):c.*3547C>T
|
rs886063336
|
0.00011
|
NM_001079802.2(FKTN):c.647+12G>A
|
rs372589966
|
0.00011
|
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=)
|
rs761842188
|
0.00011
|
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=)
|
rs763209907
|
0.00011
|
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg)
|
rs202108204
|
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_002206.3(ITGA7):c.1589C>T (p.Ala530Val)
|
rs200267194
|
0.00011
|
NM_002206.3(ITGA7):c.2534C>T (p.Thr845Met)
|
rs55654066
|
0.00011
|
NM_002206.3(ITGA7):c.3189A>T (p.Gly1063=)
|
rs144034532
|
0.00011
|
NM_002206.3(ITGA7):c.51C>T (p.Tyr17=)
|
rs200269068
|
0.00011
|
NM_002206.3(ITGA7):c.66G>A (p.Leu22=)
|
rs137962065
|
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_005198.5(CHKB):c.944A>G (p.His315Arg)
|
rs199641367
|
0.00011
|
NM_005868.6(BET1):c.134del (p.Ala45fs)
|
rs541754296
|
0.00011
|
NM_006876.3(B4GAT1):c.152C>T (p.Pro51Leu)
|
rs531686913
|
0.00011
|
NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser)
|
rs35429253
|
0.00011
|
NM_013382.7(POMT2):c.*1724C>T
|
rs45510397
|
0.00011
|
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg)
|
rs147268052
|
0.00011
|
NM_013382.7(POMT2):c.1333-13G>C
|
rs755487607
|
0.00011
|
NM_017739.4(POMGNT1):c.1979C>T (p.Thr660Ile)
|
rs377760450
|
0.00011
|
NM_017739.4(POMGNT1):c.22C>A (p.Pro8Thr)
|
rs186444670
|
0.00011
|
NM_017739.4(POMGNT1):c.421-13_421-10dup
|
rs772136218
|
0.00011
|
NM_017739.4(POMGNT1):c.426C>T (p.His142=)
|
rs374384310
|
0.00011
|
NM_017739.4(POMGNT1):c.652+6G>A
|
rs369289384
|
0.00011
|
NM_017739.4(POMGNT1):c.752-15G>A
|
rs368317059
|
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_021971.4(GMPPB):c.402+15C>T
|
rs371972364
|
0.00011
|
NM_021971.4(GMPPB):c.956G>A (p.Arg319His)
|
rs768327938
|
0.00011
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)
|
rs771333733
|
0.00011
|
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly)
|
rs753297636
|
0.00011
|
NM_032237.5(POMK):c.282+20C>T
|
rs181979471
|
0.00011
|
NM_032237.5(POMK):c.54G>A (p.Pro18=)
|
rs201226142
|
0.00011
|
NM_032237.5(POMK):c.760G>A (p.Val254Met)
|
rs34715198
|
0.00011
|
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser)
|
rs200535361
|
0.00011
|
NM_032806.6(POMGNT2):c.454G>A (p.Val152Met)
|
rs201114442
|
0.00011
|
NM_032806.6(POMGNT2):c.76C>T (p.Arg26Cys)
|
rs755067791
|
0.00011
|
NM_133642.5(LARGE1):c.*499G>A
|
rs886057458
|
0.00011
|
NM_133642.5(LARGE1):c.1645G>A (p.Val549Met)
|
rs149646216
|
0.00011
|
NM_133642.5(LARGE1):c.1664G>A (p.Ser555Asn)
|
rs773148038
|
0.00011
|
NM_133642.5(LARGE1):c.2073+11C>T
|
rs774384587
|
0.00011
|
NM_133642.5(LARGE1):c.2256C>T (p.Ala752=)
|
rs114246562
|
0.00011
|
NM_133642.5(LARGE1):c.460G>A (p.Val154Ile)
|
rs138938225
|
0.00011
|
NM_133642.5(LARGE1):c.708G>A (p.Glu236=)
|
rs202028671
|
0.00011
|
NM_133642.5(LARGE1):c.787+14del
|
rs757463406
|
0.00011
|
NM_152490.5(B3GALNT2):c.843A>G (p.Glu281=)
|
rs543981282
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_173660.5(DOK7):c.1406C>A (p.Pro469His)
|
rs147185207
|
0.00011
|
NM_173660.5(DOK7):c.1434C>T (p.Gly478=)
|
rs781007084
|
0.00011
|
NM_173660.5(DOK7):c.189C>T (p.Cys63=)
|
rs372989037
|
0.00011
|
NM_173660.5(DOK7):c.82A>C (p.Lys28Gln)
|
rs576215366
|
0.00011
|
NM_173660.5(DOK7):c.931A>G (p.Met311Val)
|
rs752949999
|
0.00011
|
NM_173660.5(DOK7):c.971C>T (p.Pro324Leu)
|
rs546889092
|
0.00011
|
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys)
|
rs142593312
|
0.00011
|
NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu)
|
rs150394215
|
0.00010
|
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala)
|
rs139843107
|
0.00010
|
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)
|
rs756854513
|
0.00010
|
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu)
|
rs151049890
|
0.00010
|
NM_001077365.2(POMT1):c.*105G>A
|
rs886063539
|
0.00010
|
NM_001077365.2(POMT1):c.1252G>A (p.Ala418Thr)
|
rs142057517
|
0.00010
|
NM_001077365.2(POMT1):c.2067C>T (p.His689=)
|
rs141895982
|
0.00010
|
NM_001077365.2(POMT1):c.330C>G (p.Leu110=)
|
rs138064523
|
0.00010
|
NM_001079802.2(FKTN):c.*3377A>G
|
rs148172557
|
0.00010
|
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile)
|
rs199691459
|
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_002206.3(ITGA7):c.1640G>A (p.Ser547Asn)
|
rs149269456
|
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_004393.6(DAG1):c.1205G>T (p.Arg402Leu)
|
rs537829489
|
0.00010
|
NM_004393.6(DAG1):c.1215G>A (p.Met405Ile)
|
rs141238609
|
0.00010
|
NM_005198.5(CHKB):c.315G>A (p.Leu105=)
|
rs369633837
|
0.00010
|
NM_005198.5(CHKB):c.870C>T (p.His290=)
|
rs140020889
|
0.00010
|
NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr)
|
rs765114036
|
0.00010
|
NM_013382.7(POMT2):c.*693C>G
|
rs752332125
|
0.00010
|
NM_013382.7(POMT2):c.-149C>A
|
rs886050828
|
0.00010
|
NM_013382.7(POMT2):c.1363C>T (p.Arg455Trp)
|
rs398124261
|
0.00010
|
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
|
rs200198778
|
0.00010
|
NM_013382.7(POMT2):c.2056C>T (p.Arg686Trp)
|
rs727502859
|
0.00010
|
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met)
|
rs148498470
|
0.00010
|
NM_021971.4(GMPPB):c.129+5G>A
|
rs370203820
|
0.00010
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
NM_032237.5(POMK):c.626C>T (p.Pro209Leu)
|
rs369093146
|
0.00010
|
NM_032806.6(POMGNT2):c.1137G>A (p.Thr379=)
|
rs377724350
|
0.00010
|
NM_032806.6(POMGNT2):c.1392G>C (p.Val464=)
|
rs554801280
|
0.00010
|
NM_032806.6(POMGNT2):c.928C>T (p.Leu310=)
|
rs151274025
|
0.00010
|
NM_133642.5(LARGE1):c.*770A>T
|
rs886057456
|
0.00010
|
NM_133642.5(LARGE1):c.*849C>T
|
rs149508241
|
0.00010
|
NM_133642.5(LARGE1):c.1791C>T (p.Phe597=)
|
rs369773678
|
0.00010
|
NM_133642.5(LARGE1):c.2015G>A (p.Arg672Gln)
|
rs145736519
|
0.00010
|
NM_133642.5(LARGE1):c.334G>A (p.Glu112Lys)
|
rs146078928
|
0.00010
|
NM_133642.5(LARGE1):c.478G>A (p.Val160Ile)
|
rs775539988
|
0.00010
|
NM_133642.5(LARGE1):c.796G>C (p.Val266Leu)
|
rs145594612
|
0.00010
|
NM_152490.5(B3GALNT2):c.1214C>T (p.Pro405Leu)
|
rs554797006
|
0.00010
|
NM_152490.5(B3GALNT2):c.279A>C (p.Ile93=)
|
rs148341787
|
0.00010
|
NM_152490.5(B3GALNT2):c.579C>T (p.Phe193=)
|
rs745391527
|
0.00010
|
NM_170707.4(LMNA):c.1202G>A (p.Arg401His)
|
rs141490569
|
0.00010
|
NM_173660.5(DOK7):c.1354C>T (p.Arg452Trp)
|
rs375116985
|
0.00010
|
NM_173660.5(DOK7):c.1470G>A (p.Ser490=)
|
rs543344505
|
0.00010
|
NM_173660.5(DOK7):c.332-13C>T
|
rs778628534
|
0.00010
|
NM_173660.5(DOK7):c.962C>T (p.Pro321Leu)
|
rs560882592
|
0.00010
|
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys)
|
rs145465528
|
0.00009
|
NM_001077365.2(POMT1):c.*448C>T
|
rs373799176
|
0.00009
|
NM_001077365.2(POMT1):c.*591C>T
|
rs1012682271
|
0.00009
|
NM_001077365.2(POMT1):c.1149C>T (p.His383=)
|
rs202121299
|
0.00009
|
NM_001077365.2(POMT1):c.1740G>A (p.Ser580=)
|
rs148758906
|
0.00009
|
NM_001077365.2(POMT1):c.1826-17C>T
|
rs377691462
|
0.00009
|
NM_001077365.2(POMT1):c.427+12G>A
|
rs372588957
|
0.00009
|
NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser)
|
rs182295674
|
0.00009
|
NM_001077365.2(POMT1):c.803G>A (p.Arg268His)
|
rs369644530
|
0.00009
|
NM_001079802.2(FKTN):c.1172+13T>C
|
rs768792475
|
0.00009
|
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser)
|
rs373134516
|
0.00009
|
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val)
|
rs762370550
|
0.00009
|
NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu)
|
rs369193825
|
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_002206.3(ITGA7):c.1192+7C>T
|
rs771730976
|
0.00009
|
NM_002206.3(ITGA7):c.1249A>G (p.Ser417Gly)
|
rs150004156
|
0.00009
|
NM_002206.3(ITGA7):c.2478C>T (p.Gly826=)
|
rs551278553
|
0.00009
|
NM_002206.3(ITGA7):c.2907C>T (p.Arg969=)
|
rs775767470
|
0.00009
|
NM_002206.3(ITGA7):c.3385G>A (p.Asp1129Asn)
|
rs572158420
|
0.00009
|
NM_002206.3(ITGA7):c.546G>A (p.Lys182=)
|
rs777933646
|
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_004393.6(DAG1):c.1287A>G (p.Val429=)
|
rs200282503
|
0.00009
|
NM_004393.6(DAG1):c.1306A>G (p.Thr436Ala)
|
rs149838438
|
0.00009
|
NM_004393.6(DAG1):c.1307C>T (p.Thr436Met)
|
rs143573515
|
0.00009
|
NM_004393.6(DAG1):c.2349T>C (p.Leu783=)
|
rs201280782
|
0.00009
|
NM_005198.5(CHKB):c.668G>A (p.Gly223Asp)
|
rs369606974
|
0.00009
|
NM_005198.5(CHKB):c.928-16T>C
|
rs774461264
|
0.00009
|
NM_005198.5(CHKB):c.970G>C (p.Glu324Gln)
|
rs771047317
|
0.00009
|
NM_006876.3(B4GAT1):c.1074G>T (p.Val358=)
|
rs768782904
|
0.00009
|
NM_013382.7(POMT2):c.*1749C>A
|
rs543216671
|
0.00009
|
NM_013382.7(POMT2):c.*727C>T
|
rs980293755
|
0.00009
|
NM_013382.7(POMT2):c.*766C>T
|
rs552352814
|
0.00009
|
NM_013382.7(POMT2):c.1089C>T (p.Pro363=)
|
rs540688610
|
0.00009
|
NM_013382.7(POMT2):c.1786-12A>G
|
rs537415359
|
0.00009
|
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe)
|
rs200690151
|
0.00009
|
NM_013382.7(POMT2):c.2033-16C>T
|
rs1004073852
|
0.00009
|
NM_013382.7(POMT2):c.424A>G (p.Met142Val)
|
rs148938943
|
0.00009
|
NM_013382.7(POMT2):c.700G>A (p.Val234Ile)
|
rs576822260
|
0.00009
|
NM_013382.7(POMT2):c.844C>T (p.Arg282Cys)
|
rs200204831
|
0.00009
|
NM_017739.4(POMGNT1):c.-141A>G
|
rs886046387
|
0.00009
|
NM_017739.4(POMGNT1):c.1285-6C>T
|
rs377292905
|
0.00009
|
NM_017739.4(POMGNT1):c.1825C>T (p.Arg609Trp)
|
rs145736350
|
0.00009
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_017739.4(POMGNT1):c.747A>G (p.Ala249=)
|
rs774008151
|
0.00009
|
NM_017739.4(POMGNT1):c.958C>T (p.Arg320Cys)
|
rs373777515
|
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_021971.4(GMPPB):c.129+7C>A
|
rs748350135
|
0.00009
|
NM_021971.4(GMPPB):c.516C>T (p.Asn172=)
|
rs147672249
|
0.00009
|
NM_021971.4(GMPPB):c.525G>T (p.Met175Ile)
|
rs147966522
|
0.00009
|
NM_024301.5(FKRP):c.1441C>G (p.Pro481Ala)
|
rs745774108
|
0.00009
|
NM_024301.5(FKRP):c.813G>A (p.Ala271=)
|
rs781205564
|
0.00009
|
NM_032237.5(POMK):c.33C>G (p.Gly11=)
|
rs967238740
|
0.00009
|
NM_032237.5(POMK):c.732C>T (p.Cys244=)
|
rs142479040
|
0.00009
|
NM_032806.6(POMGNT2):c.1092C>G (p.Leu364=)
|
rs372895122
|
0.00009
|
NM_032806.6(POMGNT2):c.538C>T (p.Arg180Trp)
|
rs371895867
|
0.00009
|
NM_032806.6(POMGNT2):c.635A>G (p.Lys212Arg)
|
rs141665095
|
0.00009
|
NM_032806.6(POMGNT2):c.994G>A (p.Val332Met)
|
rs549430013
|
0.00009
|
NM_133642.5(LARGE1):c.432C>T (p.Cys144=)
|
rs201977889
|
0.00009
|
NM_152490.5(B3GALNT2):c.1373G>A (p.Ser458Asn)
|
rs202067569
|
0.00009
|
NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile)
|
rs151133469
|
0.00009
|
NM_170707.4(LMNA):c.-138T>C
|
rs886045359
|
0.00009
|
NM_170707.4(LMNA):c.1390A>G (p.Met464Val)
|
rs200262654
|
0.00009
|
NM_173660.5(DOK7):c.1144G>A (p.Glu382Lys)
|
rs560463670
|
0.00009
|
NM_173660.5(DOK7):c.1290G>A (p.Ala430=)
|
rs538047872
|
0.00009
|
NM_173660.5(DOK7):c.1403G>A (p.Gly468Asp)
|
rs767909551
|
0.00009
|
NM_173660.5(DOK7):c.1503C>A (p.Asn501Lys)
|
rs750262940
|
0.00009
|
NM_173660.5(DOK7):c.480C>T (p.Tyr160=)
|
rs550024569
|
0.00009
|
NM_173660.5(DOK7):c.561C>T (p.Ala187=)
|
rs140026458
|
0.00009
|
NM_173660.5(DOK7):c.597C>T (p.Ile199=)
|
rs771302576
|
0.00009
|
NM_173660.5(DOK7):c.838C>T (p.Arg280Trp)
|
rs139573161
|
0.00009
|
NM_173660.5(DOK7):c.932T>C (p.Met311Thr)
|
rs763124567
|
0.00009
|
NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val)
|
rs749372185
|
0.00008
|
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn)
|
rs372592018
|
0.00008
|
NM_000426.4(LAMA2):c.9328G>A (p.Glu3110Lys)
|
rs140829166
|
0.00008
|
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)
|
rs200056620
|
0.00008
|
NM_001077365.2(POMT1):c.1486+10C>T
|
rs373393733
|
0.00008
|
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His)
|
rs147601415
|
0.00008
|
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)
|
rs139660235
|
0.00008
|
NM_001079802.2(FKTN):c.*2984C>T
|
rs886063332
|
0.00008
|
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu)
|
rs374381691
|
0.00008
|
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly)
|
rs370397489
|
0.00008
|
NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met)
|
rs373422736
|
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_002206.3(ITGA7):c.1396G>A (p.Ala466Thr)
|
rs61733964
|
0.00008
|
NM_002206.3(ITGA7):c.1801C>T (p.Arg601Trp)
|
rs201875236
|
0.00008
|
NM_002206.3(ITGA7):c.3200G>A (p.Arg1067Gln)
|
rs752159189
|
0.00008
|
NM_002206.3(ITGA7):c.3363C>T (p.Asp1121=)
|
rs372977210
|
0.00008
|
NM_003863.4(DPM2):c.-5G>A
|
rs371551833
|
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_004393.6(DAG1):c.1280C>T (p.Pro427Leu)
|
rs770985285
|
0.00008
|
NM_004393.6(DAG1):c.815C>T (p.Pro272Leu)
|
rs371509534
|
0.00008
|
NM_005198.5(CHKB):c.1110C>T (p.Tyr370=)
|
rs754077285
|
0.00008
|
NM_005198.5(CHKB):c.581G>A (p.Arg194Gln)
|
rs139818555
|
0.00008
|
NM_005198.5(CHKB):c.708C>T (p.Val236=)
|
rs141934594
|
0.00008
|
NM_013382.7(POMT2):c.1141T>C (p.Tyr381His)
|
rs369489033
|
0.00008
|
NM_013382.7(POMT2):c.133C>T (p.Pro45Ser)
|
rs780976004
|
0.00008
|
NM_013382.7(POMT2):c.1386A>C (p.Lys462Asn)
|
rs567557121
|
0.00008
|
NM_013382.7(POMT2):c.29C>T (p.Ala10Val)
|
rs183558313
|
0.00008
|
NM_013382.7(POMT2):c.439-16T>C
|
rs747572959
|
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_021971.4(GMPPB):c.304G>C (p.Asp102His)
|
rs368542417
|
0.00008
|
NM_021971.4(GMPPB):c.30T>C (p.Tyr10=)
|
rs140509231
|
0.00008
|
NM_021971.4(GMPPB):c.459A>G (p.Thr153=)
|
rs140968388
|
0.00008
|
NM_024301.5(FKRP):c.54T>A (p.Leu18=)
|
rs565563742
|
0.00008
|
NM_032237.5(POMK):c.222C>T (p.Cys74=)
|
rs147680806
|
0.00008
|
NM_032237.5(POMK):c.704A>G (p.Asn235Ser)
|
rs200742772
|
0.00008
|
NM_032237.5(POMK):c.910T>C (p.Phe304Leu)
|
rs757744253
|
0.00008
|
NM_032806.6(POMGNT2):c.1123A>G (p.Thr375Ala)
|
rs755833440
|
0.00008
|
NM_032806.6(POMGNT2):c.189C>T (p.Gly63=)
|
rs377288837
|
0.00008
|
NM_133642.5(LARGE1):c.1131+12A>T
|
rs377316838
|
0.00008
|
NM_152490.5(B3GALNT2):c.1069G>A (p.Asp357Asn)
|
rs138443370
|
0.00008
|
NM_152490.5(B3GALNT2):c.361+13T>G
|
rs367788823
|
0.00008
|
NM_170707.4(LMNA):c.1381-5G>A
|
rs730880133
|
0.00008
|
NM_170707.4(LMNA):c.1488+6T>G
|
rs369642101
|
0.00008
|
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)
|
rs765594825
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_173660.5(DOK7):c.1084G>A (p.Val362Met)
|
rs760157322
|
0.00008
|
NM_173660.5(DOK7):c.1230C>A (p.Ser410Arg)
|
rs200593935
|
0.00008
|
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp)
|
rs778440478
|
0.00008
|
NM_173660.5(DOK7):c.1388A>G (p.Glu463Gly)
|
rs769974159
|
0.00008
|
NM_173660.5(DOK7):c.213C>T (p.Tyr71=)
|
rs760236131
|
0.00008
|
NM_173660.5(DOK7):c.214G>A (p.Glu72Lys)
|
rs770653049
|
0.00008
|
NM_173660.5(DOK7):c.54+13C>T
|
rs912327595
|
0.00008
|
NM_173660.5(DOK7):c.688C>T (p.Arg230Cys)
|
rs202077864
|
0.00008
|
NM_173660.5(DOK7):c.772+8C>T
|
rs199769286
|
0.00008
|
NM_173660.5(DOK7):c.804A>G (p.Ser268=)
|
rs781113489
|
0.00008
|
NM_000426.4(LAMA2):c.2054T>G (p.Leu685Arg)
|
rs746641607
|
0.00007
|
NM_000426.4(LAMA2):c.5179G>C (p.Glu1727Gln)
|
rs374201203
|
0.00007
|
NM_000426.4(LAMA2):c.711C>T (p.Ser237=)
|
rs369745832
|
0.00007
|
NM_000426.4(LAMA2):c.7486C>T (p.Leu2496Phe)
|
rs970365005
|
0.00007
|
NM_001077365.2(POMT1):c.1365+10C>T
|
rs200089530
|
0.00007
|
NM_001077365.2(POMT1):c.1448G>A (p.Ser483Asn)
|
rs750937093
|
0.00007
|
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met)
|
rs201220016
|
0.00007
|
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)
|
rs376373313
|
0.00007
|
NM_001077365.2(POMT1):c.367G>T (p.Val123Leu)
|
rs1424629668
|
0.00007
|
NM_001077365.2(POMT1):c.986+5G>A
|
rs370096853
|
0.00007
|
NM_001079802.2(FKTN):c.106-13G>C
|
rs370216581
|
0.00007
|
NM_001079802.2(FKTN):c.1212T>G (p.Phe404Leu)
|
rs776724595
|
0.00007
|
NM_001101426.4(CRPPA):c.1170C>T (p.Asn390=)
|
rs760178734
|
0.00007
|
NM_001101426.4(CRPPA):c.828T>C (p.Ile276=)
|
rs201334104
|
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_002206.3(ITGA7):c.1505+13C>T
|
rs199932752
|
0.00007
|
NM_002206.3(ITGA7):c.1567+8C>T
|
rs755842392
|
0.00007
|
NM_002206.3(ITGA7):c.1624C>T (p.Arg542Cys)
|
rs374384926
|
0.00007
|
NM_002206.3(ITGA7):c.1625G>A (p.Arg542His)
|
rs17854598
|
0.00007
|
NM_002206.3(ITGA7):c.1845C>T (p.Ala615=)
|
rs189525243
|
0.00007
|
NM_002206.3(ITGA7):c.2433-6C>T
|
rs371922720
|
0.00007
|
NM_002206.3(ITGA7):c.3213C>T (p.Pro1071=)
|
rs559955065
|
0.00007
|
NM_002206.3(ITGA7):c.670+15G>A
|
rs201064749
|
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_004393.6(DAG1):c.183T>C (p.Val61=)
|
rs775928044
|
0.00007
|
NM_005198.5(CHKB):c.219C>T (p.Pro73=)
|
rs751273046
|
0.00007
|
NM_005198.5(CHKB):c.737-14C>T
|
rs961307091
|
0.00007
|
NM_005198.5(CHKB):c.928-19T>A
|
rs373763595
|
0.00007
|
NM_006876.3(B4GAT1):c.1206G>A (p.Gln402=)
|
rs771065781
|
0.00007
|
NM_006876.3(B4GAT1):c.924G>A (p.Pro308=)
|
rs200574075
|
0.00007
|
NM_013382.7(POMT2):c.1552G>A (p.Val518Met)
|
rs200762716
|
0.00007
|
NM_013382.7(POMT2):c.1887T>G (p.Val629=)
|
rs145942005
|
0.00007
|
NM_013382.7(POMT2):c.2032+7G>C
|
rs371121278
|
0.00007
|
NM_017739.4(POMGNT1):c.1299G>A (p.Thr433=)
|
rs187954010
|
0.00007
|
NM_017739.4(POMGNT1):c.1605-8C>T
|
rs535331969
|
0.00007
|
NM_017739.4(POMGNT1):c.266G>A (p.Arg89Gln)
|
rs200042607
|
0.00007
|
NM_020451.3(SELENON):c.253A>G (p.Met85Val)
|
rs761605974
|
0.00007
|
NM_021971.4(GMPPB):c.621A>G (p.Leu207=)
|
rs369255307
|
0.00007
|
NM_024301.5(FKRP):c.1266C>G (p.Pro422=)
|
rs374056230
|
0.00007
|
NM_024301.5(FKRP):c.360C>T (p.Tyr120=)
|
rs781576638
|
0.00007
|
NM_032237.5(POMK):c.1024A>G (p.Met342Val)
|
rs762404960
|
0.00007
|
NM_032237.5(POMK):c.219C>G (p.Ser73=)
|
rs188920070
|
0.00007
|
NM_032806.6(POMGNT2):c.1455G>A (p.Val485=)
|
rs145017190
|
0.00007
|
NM_032806.6(POMGNT2):c.499G>A (p.Val167Ile)
|
rs201333414
|
0.00007
|
NM_032806.6(POMGNT2):c.83A>G (p.His28Arg)
|
rs766508088
|
0.00007
|
NM_133642.5(LARGE1):c.119T>C (p.Val40Ala)
|
rs148383806
|
0.00007
|
NM_133642.5(LARGE1):c.1277A>C (p.Asn426Thr)
|
rs369552267
|
0.00007
|
NM_133642.5(LARGE1):c.857G>A (p.Arg286His)
|
rs200035534
|
0.00007
|
NM_152490.5(B3GALNT2):c.633A>G (p.Glu211=)
|
rs746548557
|
0.00007
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00007
|
NM_170707.4(LMNA):c.1488+7G>A
|
rs374209100
|
0.00007
|
NM_173660.5(DOK7):c.1457C>T (p.Pro486Leu)
|
rs200015934
|
0.00007
|
NM_173660.5(DOK7):c.297G>A (p.Ala99=)
|
rs201351460
|
0.00007
|
NM_173660.5(DOK7):c.903A>C (p.Pro301=)
|
rs145040126
|
0.00007
|
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)
|
rs1374568851
|
0.00006
|
NM_000426.4(LAMA2):c.3662T>G (p.Met1221Arg)
|
rs140895872
|
0.00006
|
NM_000426.4(LAMA2):c.3862G>A (p.Val1288Ile)
|
rs758134778
|
0.00006
|
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr)
|
rs368349321
|
0.00006
|
NM_000426.4(LAMA2):c.5072-9C>A
|
rs770904109
|
0.00006
|
NM_000426.4(LAMA2):c.5158G>C (p.Glu1720Gln)
|
rs760572086
|
0.00006
|
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer)
|
rs794727594
|
0.00006
|
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile)
|
rs201587923
|
0.00006
|
NM_000426.4(LAMA2):c.8326A>T (p.Ile2776Phe)
|
rs569286697
|
0.00006
|
NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val)
|
rs140178576
|
0.00006
|
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg)
|
rs370843758
|
0.00006
|
NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu)
|
rs146525742
|
0.00006
|
NM_001077365.2(POMT1):c.*37G>A
|
rs201474628
|
0.00006
|
NM_001077365.2(POMT1):c.1163G>A (p.Arg388His)
|
rs138640226
|
0.00006
|
NM_001077365.2(POMT1):c.1251C>T (p.Pro417=)
|
rs376749638
|
0.00006
|
NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val)
|
rs369651101
|
0.00006
|
NM_001077365.2(POMT1):c.1486+9G>A
|
rs547775333
|
0.00006
|
NM_001077365.2(POMT1):c.1698+7G>A
|
rs367775263
|
0.00006
|
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)
|
rs757903559
|
0.00006
|
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=)
|
rs778418119
|
0.00006
|
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr)
|
rs535544133
|
0.00006
|
NM_001077365.2(POMT1):c.30G>A (p.Val10=)
|
rs201533471
|
0.00006
|
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val)
|
rs371531181
|
0.00006
|
NM_001077365.2(POMT1):c.579_580del (p.Val195fs)
|
rs1032439203
|
0.00006
|
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)
|
rs747506380
|
0.00006
|
NM_001079802.2(FKTN):c.*2254A>G
|
rs764218622
|
0.00006
|
NM_001079802.2(FKTN):c.781-9T>C
|
rs370564232
|
0.00006
|
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile)
|
rs755092516
|
0.00006
|
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser)
|
rs776639304
|
0.00006
|
NM_001101426.4(CRPPA):c.226C>G (p.Leu76Val)
|
rs939213590
|
0.00006
|
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln)
|
rs773739293
|
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_002206.3(ITGA7):c.1266C>T (p.Val422=)
|
rs1475493786
|
0.00006
|
NM_002206.3(ITGA7):c.1402C>G (p.Leu468Val)
|
rs959396943
|
0.00006
|
NM_002206.3(ITGA7):c.1811G>A (p.Arg604Gln)
|
rs764577574
|
0.00006
|
NM_002206.3(ITGA7):c.2196+18G>A
|
rs368745819
|
0.00006
|
NM_002206.3(ITGA7):c.2536-19T>C
|
rs778684706
|
0.00006
|
NM_002206.3(ITGA7):c.2612A>G (p.Asn871Ser)
|
rs768368830
|
0.00006
|
NM_002206.3(ITGA7):c.2625G>A (p.Leu875=)
|
rs370716816
|
0.00006
|
NM_002206.3(ITGA7):c.2685C>T (p.Cys895=)
|
rs767023007
|
0.00006
|
NM_002206.3(ITGA7):c.2909C>T (p.Ala970Val)
|
rs201354330
|
0.00006
|
NM_002206.3(ITGA7):c.3174C>T (p.Leu1058=)
|
rs377148751
|
0.00006
|
NM_002206.3(ITGA7):c.3299T>C (p.Leu1100Pro)
|
rs370654924
|
0.00006
|
NM_002206.3(ITGA7):c.404G>T (p.Gly135Val)
|
rs745534478
|
0.00006
|
NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter)
|
rs17854600
|
0.00006
|
NM_002206.3(ITGA7):c.63C>G (p.Ser21=)
|
rs368615107
|
0.00006
|
NM_002206.3(ITGA7):c.69C>T (p.Leu23=)
|
rs146932796
|
0.00006
|
NM_002206.3(ITGA7):c.790+9G>A
|
rs768214392
|
0.00006
|
NM_002206.3(ITGA7):c.795C>T (p.Phe265=)
|
rs750996292
|
0.00006
|
NM_003863.4(DPM2):c.102C>T (p.Ile34=)
|
rs777078287
|
0.00006
|
NM_003863.4(DPM2):c.3+14C>A
|
rs375782774
|
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_004393.6(DAG1):c.1101G>A (p.Thr367=)
|
rs142406476
|
0.00006
|
NM_004393.6(DAG1):c.1471G>A (p.Gly491Arg)
|
rs199728911
|
0.00006
|
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile)
|
rs199894361
|
0.00006
|
NM_004393.6(DAG1):c.1708G>A (p.Val570Met)
|
rs370669533
|
0.00006
|
NM_004393.6(DAG1):c.1773C>T (p.Phe591=)
|
rs2229010
|
0.00006
|
NM_004393.6(DAG1):c.244A>G (p.Ile82Val)
|
rs141706514
|
0.00006
|
NM_004393.6(DAG1):c.2576A>G (p.Asn859Ser)
|
rs754079735
|
0.00006
|
NM_004393.6(DAG1):c.293C>T (p.Ala98Val)
|
rs200871775
|
0.00006
|
NM_004393.6(DAG1):c.349C>T (p.Leu117=)
|
rs146011758
|
0.00006
|
NM_004393.6(DAG1):c.510C>A (p.Ala170=)
|
rs147153370
|
0.00006
|
NM_004393.6(DAG1):c.735G>A (p.Pro245=)
|
rs748164001
|
0.00006
|
NM_004393.6(DAG1):c.829G>A (p.Val277Ile)
|
rs375892170
|
0.00006
|
NM_004393.6(DAG1):c.927C>T (p.Arg309=)
|
rs551679833
|
0.00006
|
NM_005198.5(CHKB):c.1037C>T (p.Ala346Val)
|
rs772616505
|
0.00006
|
NM_005198.5(CHKB):c.1111T>A (p.Leu371Met)
|
rs372078948
|
0.00006
|
NM_005198.5(CHKB):c.140G>A (p.Arg47His)
|
rs893001695
|
0.00006
|
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter)
|
rs373091820
|
0.00006
|
NM_005198.5(CHKB):c.476G>A (p.Arg159Gln)
|
rs760539135
|
0.00006
|
NM_005198.5(CHKB):c.709G>A (p.Val237Ile)
|
rs184254424
|
0.00006
|
NM_005198.5(CHKB):c.980C>T (p.Ser327Phe)
|
rs371355721
|
0.00006
|
NM_006876.3(B4GAT1):c.1100A>G (p.Asn367Ser)
|
rs1024259166
|
0.00006
|
NM_006876.3(B4GAT1):c.162G>T (p.Arg54=)
|
rs751180898
|
0.00006
|
NM_006876.3(B4GAT1):c.355C>A (p.Pro119Thr)
|
rs201892419
|
0.00006
|
NM_006876.3(B4GAT1):c.582G>C (p.Gln194His)
|
rs377415983
|
0.00006
|
NM_013382.7(POMT2):c.*1548G>A
|
rs902166672
|
0.00006
|
NM_013382.7(POMT2):c.*1818T>C
|
rs1010549526
|
0.00006
|
NM_013382.7(POMT2):c.*637C>G
|
rs1327896686
|
0.00006
|
NM_013382.7(POMT2):c.1396C>T (p.Arg466Trp)
|
rs763119319
|
0.00006
|
NM_013382.7(POMT2):c.1484+17T>C
|
rs769039137
|
0.00006
|
NM_013382.7(POMT2):c.1485-3C>T
|
rs754892193
|
0.00006
|
NM_013382.7(POMT2):c.160G>T (p.Ala54Ser)
|
rs1239345534
|
0.00006
|
NM_013382.7(POMT2):c.1726-9A>G
|
rs747493997
|
0.00006
|
NM_013382.7(POMT2):c.1785+20C>T
|
rs371727483
|
0.00006
|
NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln)
|
rs369365744
|
0.00006
|
NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser)
|
rs767592155
|
0.00006
|
NM_013382.7(POMT2):c.2112G>A (p.Ala704=)
|
rs548359755
|
0.00006
|
NM_013382.7(POMT2):c.237G>A (p.Pro79=)
|
rs201322445
|
0.00006
|
NM_013382.7(POMT2):c.640A>C (p.Asn214His)
|
rs376485603
|
0.00006
|
NM_013382.7(POMT2):c.657-18C>T
|
rs759654244
|
0.00006
|
NM_013382.7(POMT2):c.936C>T (p.Asp312=)
|
rs186690580
|
0.00006
|
NM_016213.5(TRIP4):c.950G>A (p.Arg317Gln)
|
rs200549601
|
0.00006
|
NM_017739.4(POMGNT1):c.1111-6T>C
|
rs751751349
|
0.00006
|
NM_017739.4(POMGNT1):c.1111-9C>T
|
rs757533535
|
0.00006
|
NM_017739.4(POMGNT1):c.1539C>T (p.His513=)
|
rs569297597
|
0.00006
|
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln)
|
rs371741722
|
0.00006
|
NM_017739.4(POMGNT1):c.188G>A (p.Arg63Gln)
|
rs141421141
|
0.00006
|
NM_017739.4(POMGNT1):c.1896-20T>A
|
rs200416465
|
0.00006
|
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser)
|
rs377724143
|
0.00006
|
NM_017739.4(POMGNT1):c.986C>T (p.Ser329Phe)
|
rs772102300
|
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_021971.4(GMPPB):c.554G>A (p.Arg185His)
|
rs755165049
|
0.00006
|
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp)
|
rs142908436
|
0.00006
|
NM_021971.4(GMPPB):c.869C>T (p.Thr290Met)
|
rs139668958
|
0.00006
|
NM_024301.5(FKRP):c.1140G>A (p.Gly380=)
|
rs552260353
|
0.00006
|
NM_024301.5(FKRP):c.1386T>G (p.Pro462=)
|
rs776825755
|
0.00006
|
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser)
|
rs777245868
|
0.00006
|
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr)
|
rs746905689
|
0.00006
|
NM_024301.5(FKRP):c.563C>T (p.Ala188Val)
|
rs768762059
|
0.00006
|
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu)
|
rs750041378
|
0.00006
|
NM_024301.5(FKRP):c.633G>A (p.Ser211=)
|
rs921883036
|
0.00006
|
NM_032237.5(POMK):c.407C>T (p.Thr136Met)
|
rs138216719
|
0.00006
|
NM_032237.5(POMK):c.701T>C (p.Val234Ala)
|
rs185390123
|
0.00006
|
NM_032237.5(POMK):c.726G>A (p.Val242=)
|
rs779226611
|
0.00006
|
NM_032237.5(POMK):c.978C>T (p.Asp326=)
|
rs377648307
|
0.00006
|
NM_032806.6(POMGNT2):c.1387C>T (p.Arg463Cys)
|
rs376177936
|
0.00006
|
NM_032806.6(POMGNT2):c.1406C>T (p.Pro469Leu)
|
rs369787177
|
0.00006
|
NM_032806.6(POMGNT2):c.1593G>A (p.Glu531=)
|
rs368787205
|
0.00006
|
NM_032806.6(POMGNT2):c.161C>T (p.Pro54Leu)
|
rs748576103
|
0.00006
|
NM_032806.6(POMGNT2):c.219G>A (p.Thr73=)
|
rs138728885
|
0.00006
|
NM_032806.6(POMGNT2):c.377A>G (p.Asn126Ser)
|
rs750654109
|
0.00006
|
NM_032806.6(POMGNT2):c.396C>G (p.Phe132Leu)
|
rs150567400
|
0.00006
|
NM_032806.6(POMGNT2):c.421C>T (p.Arg141Cys)
|
rs150758981
|
0.00006
|
NM_032806.6(POMGNT2):c.646C>T (p.Leu216=)
|
rs1403289209
|
0.00006
|
NM_032806.6(POMGNT2):c.829G>A (p.Val277Met)
|
rs191081141
|
0.00006
|
NM_032806.6(POMGNT2):c.856G>A (p.Glu286Lys)
|
rs760408813
|
0.00006
|
NM_032806.6(POMGNT2):c.935A>G (p.Gln312Arg)
|
rs375879947
|
0.00006
|
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter)
|
rs777172978
|
0.00006
|
NM_133642.5(LARGE1):c.*186C>T
|
rs780030367
|
0.00006
|
NM_133642.5(LARGE1):c.-242C>T
|
rs886057462
|
0.00006
|
NM_133642.5(LARGE1):c.-277T>G
|
rs886057464
|
0.00006
|
NM_133642.5(LARGE1):c.-287A>G
|
rs886057465
|
0.00006
|
NM_133642.5(LARGE1):c.-83+63184A>C
|
rs759992064
|
0.00006
|
NM_133642.5(LARGE1):c.1005+17G>A
|
rs371887551
|
0.00006
|
NM_133642.5(LARGE1):c.118G>A (p.Val40Met)
|
rs188675457
|
0.00006
|
NM_133642.5(LARGE1):c.131C>T (p.Pro44Leu)
|
rs143437080
|
0.00006
|
NM_133642.5(LARGE1):c.1521C>A (p.Asp507Glu)
|
rs1312649028
|
0.00006
|
NM_133642.5(LARGE1):c.1578C>T (p.Arg526=)
|
rs200229228
|
0.00006
|
NM_133642.5(LARGE1):c.1584C>T (p.Asn528=)
|
rs113492643
|
0.00006
|
NM_133642.5(LARGE1):c.1928G>A (p.Arg643Gln)
|
rs151199006
|
0.00006
|
NM_133642.5(LARGE1):c.2255C>G (p.Ala752Gly)
|
rs200024875
|
0.00006
|
NM_133642.5(LARGE1):c.252C>T (p.Ser84=)
|
rs56202589
|
0.00006
|
NM_133642.5(LARGE1):c.534G>C (p.Ala178=)
|
rs772655607
|
0.00006
|
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu)
|
rs149747266
|
0.00006
|
NM_133642.5(LARGE1):c.99C>T (p.Ser33=)
|
rs377353667
|
0.00006
|
NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys)
|
rs773864097
|
0.00006
|
NM_152490.5(B3GALNT2):c.574C>T (p.Arg192Cys)
|
rs144258088
|
0.00006
|
NM_152490.5(B3GALNT2):c.790T>A (p.Phe264Ile)
|
rs779469431
|
0.00006
|
NM_153741.2(DPM3):c.248C>T (p.Ala83Val)
|
rs777586354
|
0.00006
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
NM_173660.5(DOK7):c.1014C>T (p.Ser338=)
|
rs768867580
|
0.00006
|
NM_173660.5(DOK7):c.1107G>A (p.Leu369=)
|
rs778918520
|
0.00006
|
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val)
|
rs371846002
|
0.00006
|
NM_173660.5(DOK7):c.1170C>T (p.Pro390=)
|
rs199525739
|
0.00006
|
NM_173660.5(DOK7):c.1393A>G (p.Thr465Ala)
|
rs765625554
|
0.00006
|
NM_173660.5(DOK7):c.1435G>A (p.Gly479Ser)
|
rs140519765
|
0.00006
|
NM_173660.5(DOK7):c.1483T>G (p.Cys495Gly)
|
rs775074100
|
0.00006
|
NM_173660.5(DOK7):c.155G>A (p.Arg52Gln)
|
rs201953114
|
0.00006
|
NM_173660.5(DOK7):c.229A>G (p.Thr77Ala)
|
rs759395609
|
0.00006
|
NM_173660.5(DOK7):c.327C>T (p.Gly109=)
|
rs377367035
|
0.00006
|
NM_173660.5(DOK7):c.532+9G>A
|
rs374795386
|
0.00006
|
NM_173660.5(DOK7):c.54+32G>C
|
rs763739780
|
0.00006
|
NM_173660.5(DOK7):c.639G>A (p.Arg213=)
|
rs1411499971
|
0.00006
|
NM_173660.5(DOK7):c.653-9C>G
|
rs1350076940
|
0.00006
|
NM_173660.5(DOK7):c.882G>A (p.Thr294=)
|
rs369425286
|
0.00006
|
NM_173660.5(DOK7):c.922G>A (p.Gly308Arg)
|
rs759691572
|
0.00006
|
NM_173660.5(DOK7):c.973C>T (p.Arg325Trp)
|
rs376280466
|
0.00006
|
NM_173660.5(DOK7):c.974G>A (p.Arg325Gln)
|
rs750929473
|
0.00006
|
NM_173660.5(DOK7):c.996C>T (p.Arg332=)
|
rs781199587
|
0.00006
|
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter)
|
rs191912891
|
0.00005
|
NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn)
|
rs370691060
|
0.00005
|
NM_000426.4(LAMA2):c.3403A>C (p.Thr1135Pro)
|
rs760558443
|
0.00005
|
NM_000426.4(LAMA2):c.5562+1G>A
|
rs376014152
|
0.00005
|
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg)
|
rs372956200
|
0.00005
|
NM_001077365.2(POMT1):c.1366-6C>T
|
rs781702944
|
0.00005
|
NM_001077365.2(POMT1):c.1444G>A (p.Gly482Arg)
|
rs372354077
|
0.00005
|
NM_001077365.2(POMT1):c.1487-5G>T
|
rs747783069
|
0.00005
|
NM_001077365.2(POMT1):c.1565C>T (p.Ala522Val)
|
rs374402055
|
0.00005
|
NM_001077365.2(POMT1):c.1823A>G (p.Gln608Arg)
|
rs145021255
|
0.00005
|
NM_001077365.2(POMT1):c.1825+17C>T
|
rs200195080
|
0.00005
|
NM_001077365.2(POMT1):c.1866C>T (p.Ala622=)
|
rs200652115
|
0.00005
|
NM_001077365.2(POMT1):c.198G>A (p.Pro66=)
|
rs369877185
|
0.00005
|
NM_001077365.2(POMT1):c.389A>C (p.His130Pro)
|
rs752880907
|
0.00005
|
NM_001077365.2(POMT1):c.425T>C (p.Ile142Thr)
|
rs746950128
|
0.00005
|
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp)
|
rs886042627
|
0.00005
|
NM_001079802.2(FKTN):c.*954T>A
|
rs886063323
|
0.00005
|
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)
|
rs143748939
|
0.00005
|
NM_001079802.2(FKTN):c.822G>T (p.Arg274=)
|
rs997235832
|
0.00005
|
NM_001101426.4(CRPPA):c.255G>A (p.Glu85=)
|
rs886042759
|
0.00005
|
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)
|
rs397515398
|
0.00005
|
NM_001101426.4(CRPPA):c.42G>T (p.Pro14=)
|
rs1332918116
|
0.00005
|
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr)
|
rs374054216
|
0.00005
|
NM_001101426.4(CRPPA):c.835+2T>C
|
rs773325665
|
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_002206.3(ITGA7):c.1568-9A>G
|
rs761067098
|
0.00005
|
NM_002206.3(ITGA7):c.1680C>T (p.Thr560=)
|
rs760968207
|
0.00005
|
NM_002206.3(ITGA7):c.1719C>T (p.Asp573=)
|
rs530050340
|
0.00005
|
NM_002206.3(ITGA7):c.2357+1G>A
|
rs200402328
|
0.00005
|
NM_002206.3(ITGA7):c.259C>T (p.Arg87Cys)
|
rs140570573
|
0.00005
|
NM_002206.3(ITGA7):c.2958+5G>C
|
rs191213131
|
0.00005
|
NM_002206.3(ITGA7):c.3199C>T (p.Arg1067Trp)
|
rs367574217
|
0.00005
|
NM_002206.3(ITGA7):c.3263G>A (p.Arg1088Gln)
|
rs754655315
|
0.00005
|
NM_002206.3(ITGA7):c.3372C>T (p.Pro1124=)
|
rs141486781
|
0.00005
|
NM_002206.3(ITGA7):c.386G>A (p.Arg129Gln)
|
rs376167554
|
0.00005
|
NM_002206.3(ITGA7):c.708C>T (p.Pro236=)
|
rs555521550
|
0.00005
|
NM_002206.3(ITGA7):c.955G>A (p.Gly319Ser)
|
rs200793865
|
0.00005
|
NM_003863.4(DPM2):c.197-5C>T
|
rs886063482
|
0.00005
|
NM_003863.4(DPM2):c.74C>G (p.Thr25Ser)
|
rs1026866240
|
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_004393.6(DAG1):c.1051A>G (p.Thr351Ala)
|
rs376991799
|
0.00005
|
NM_004393.6(DAG1):c.1240A>T (p.Thr414Ser)
|
rs768983113
|
0.00005
|
NM_004393.6(DAG1):c.185C>T (p.Pro62Leu)
|
rs375938350
|
0.00005
|
NM_004393.6(DAG1):c.1954C>T (p.Arg652Trp)
|
rs151272832
|
0.00005
|
NM_004393.6(DAG1):c.2192C>T (p.Ala731Val)
|
rs375071274
|
0.00005
|
NM_004393.6(DAG1):c.2406C>T (p.Asp802=)
|
rs146134719
|
0.00005
|
NM_004393.6(DAG1):c.49A>G (p.Thr17Ala)
|
rs760423386
|
0.00005
|
NM_005198.4(CHKB):c.-94G>A
|
rs886057639
|
0.00005
|
NM_006876.3(B4GAT1):c.1057-6C>T
|
rs373478461
|
0.00005
|
NM_006876.3(B4GAT1):c.510C>G (p.Pro170=)
|
rs761777602
|
0.00005
|
NM_013382.7(POMT2):c.*2200G>A
|
rs1037547422
|
0.00005
|
NM_013382.7(POMT2):c.*289G>A
|
rs886050823
|
0.00005
|
NM_013382.7(POMT2):c.*601G>A
|
rs150190025
|
0.00005
|
NM_013382.7(POMT2):c.1124C>T (p.Thr375Ile)
|
rs542912704
|
0.00005
|
NM_013382.7(POMT2):c.1127A>G (p.Tyr376Cys)
|
rs1180170796
|
0.00005
|
NM_013382.7(POMT2):c.1733G>A (p.Arg578His)
|
rs571330846
|
0.00005
|
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln)
|
rs200163818
|
0.00005
|
NM_013382.7(POMT2):c.2148-15G>C
|
rs777010788
|
0.00005
|
NM_013382.7(POMT2):c.339G>A (p.Leu113=)
|
rs907279495
|
0.00005
|
NM_013382.7(POMT2):c.621G>A (p.Met207Ile)
|
rs551885065
|
0.00005
|
NM_013382.7(POMT2):c.871C>G (p.Leu291Val)
|
rs764015186
|
0.00005
|
NM_016532.4(INPP5K):c.119A>G (p.Asn40Ser)
|
rs547379014
|
0.00005
|
NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys)
|
rs36038536
|
0.00005
|
NM_017739.4(POMGNT1):c.129C>T (p.Ala43=)
|
rs138950267
|
0.00005
|
NM_017739.4(POMGNT1):c.1540-6C>T
|
rs770449394
|
0.00005
|
NM_017739.4(POMGNT1):c.1758C>T (p.Asp586=)
|
rs376138855
|
0.00005
|
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr)
|
rs746638187
|
0.00005
|
NM_017739.4(POMGNT1):c.752-7C>T
|
rs767387934
|
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_021971.4(GMPPB):c.160A>C (p.Ser54Arg)
|
rs145671483
|
0.00005
|
NM_021971.4(GMPPB):c.952-14A>G
|
rs747845961
|
0.00005
|
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)
|
rs199922550
|
0.00005
|
NM_024301.5(FKRP):c.1011C>A (p.Gly337=)
|
rs770149835
|
0.00005
|
NM_024301.5(FKRP):c.1253G>A (p.Trp418Ter)
|
rs746533953
|
0.00005
|
NM_024301.5(FKRP):c.1270A>C (p.Asn424His)
|
rs769568971
|
0.00005
|
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu)
|
rs375326964
|
0.00005
|
NM_024301.5(FKRP):c.210C>T (p.Phe70=)
|
rs569336346
|
0.00005
|
NM_024301.5(FKRP):c.295G>A (p.Val99Met)
|
rs776733780
|
0.00005
|
NM_032237.5(POMK):c.256C>T (p.Arg86Cys)
|
rs370978230
|
0.00005
|
NM_032237.5(POMK):c.968C>T (p.Thr323Ile)
|
rs1029874324
|
0.00005
|
NM_032806.6(POMGNT2):c.1009A>G (p.Asn337Asp)
|
rs748310184
|
0.00005
|
NM_032806.6(POMGNT2):c.1083G>A (p.Val361=)
|
rs765996959
|
0.00005
|
NM_032806.6(POMGNT2):c.1271G>A (p.Arg424His)
|
rs775667995
|
0.00005
|
NM_032806.6(POMGNT2):c.12G>A (p.Ser4=)
|
rs368531523
|
0.00005
|
NM_032806.6(POMGNT2):c.1334G>A (p.Arg445Gln)
|
rs756644394
|
0.00005
|
NM_032806.6(POMGNT2):c.1415G>A (p.Arg472Gln)
|
rs147074827
|
0.00005
|
NM_032806.6(POMGNT2):c.15G>A (p.Ala5=)
|
rs570040029
|
0.00005
|
NM_032806.6(POMGNT2):c.214C>T (p.Arg72Cys)
|
rs759054257
|
0.00005
|
NM_032806.6(POMGNT2):c.363C>T (p.Thr121=)
|
rs200345083
|
0.00005
|
NM_032806.6(POMGNT2):c.445G>A (p.Val149Met)
|
rs147163009
|
0.00005
|
NM_032806.6(POMGNT2):c.459C>T (p.Ala153=)
|
rs373276653
|
0.00005
|
NM_032806.6(POMGNT2):c.51G>A (p.Ala17=)
|
rs749826105
|
0.00005
|
NM_032806.6(POMGNT2):c.550G>A (p.Gly184Ser)
|
rs368791726
|
0.00005
|
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=)
|
rs115686643
|
0.00005
|
NM_133642.5(LARGE1):c.2213T>C (p.Met738Thr)
|
rs776954687
|
0.00005
|
NM_152490.5(B3GALNT2):c.1095T>C (p.Ala365=)
|
rs751231735
|
0.00005
|
NM_152490.5(B3GALNT2):c.30G>A (p.Pro10=)
|
rs986453979
|
0.00005
|
NM_152490.5(B3GALNT2):c.390T>C (p.Ser130=)
|
rs139582216
|
0.00005
|
NM_152490.5(B3GALNT2):c.664A>G (p.Thr222Ala)
|
rs375121424
|
0.00005
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)
|
rs267607570
|
0.00005
|
NM_173660.5(DOK7):c.1219A>G (p.Thr407Ala)
|
rs377326004
|
0.00005
|
NM_173660.5(DOK7):c.201C>T (p.Pro67=)
|
rs770153614
|
0.00005
|
NM_173660.5(DOK7):c.314G>A (p.Arg105His)
|
rs776352781
|
0.00005
|
NM_173660.5(DOK7):c.331+16C>T
|
rs577280323
|
0.00005
|
NM_173660.5(DOK7):c.378C>T (p.Ser126=)
|
rs753043554
|
0.00005
|
NM_173660.5(DOK7):c.54+8C>T
|
rs577687998
|
0.00005
|
NM_173660.5(DOK7):c.653-18G>C
|
rs762076600
|
0.00005
|
NM_173660.5(DOK7):c.822C>T (p.Asp274=)
|
rs141732576
|
0.00005
|
NM_173660.5(DOK7):c.829G>A (p.Ala277Thr)
|
rs759117081
|
0.00005
|
NM_173660.5(DOK7):c.968G>A (p.Arg323His)
|
rs763188032
|
0.00005
|
NM_000426.4(LAMA2):c.149C>T (p.Ala50Val)
|
rs191899712
|
0.00004
|
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg)
|
rs150361703
|
0.00004
|
NM_000426.4(LAMA2):c.4118C>T (p.Pro1373Leu)
|
rs754163400
|
0.00004
|
NM_000426.4(LAMA2):c.5050G>A (p.Glu1684Lys)
|
rs201632009
|
0.00004
|
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
|
rs121913572
|
0.00004
|
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)
|
rs398123388
|
0.00004
|
NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr)
|
rs794727815
|
0.00004
|
NM_001077365.2(POMT1):c.*68C>T
|
rs773474667
|
0.00004
|
NM_001077365.2(POMT1):c.1175+13G>A
|
rs777087288
|
0.00004
|
NM_001077365.2(POMT1):c.123-13T>G
|
rs773958478
|
0.00004
|
NM_001077365.2(POMT1):c.123-6T>C
|
rs201486083
|
0.00004
|
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)
|
rs377304621
|
0.00004
|
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg)
|
rs376882399
|
0.00004
|
NM_001077365.2(POMT1):c.1485G>A (p.Ala495=)
|
rs142211950
|
0.00004
|
NM_001077365.2(POMT1):c.1511G>A (p.Arg504Gln)
|
rs370705614
|
0.00004
|
NM_001077365.2(POMT1):c.1795C>T (p.Arg599Trp)
|
rs150899645
|
0.00004
|
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)
|
rs794727208
|
0.00004
|
NM_001077365.2(POMT1):c.1990G>A (p.Asp664Asn)
|
rs145635821
|
0.00004
|
NM_001077365.2(POMT1):c.2003+9G>A
|
rs368975092
|
0.00004
|
NM_001077365.2(POMT1):c.2132C>T (p.Ala711Val)
|
rs769694503
|
0.00004
|
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter)
|
rs202202445
|
0.00004
|
NM_001077365.2(POMT1):c.310C>T (p.Leu104=)
|
rs146982282
|
0.00004
|
NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe)
|
rs141833028
|
0.00004
|
NM_001077365.2(POMT1):c.579A>G (p.Thr193=)
|
rs775408856
|
0.00004
|
NM_001077365.2(POMT1):c.620G>A (p.Gly207Asp)
|
rs765733801
|
0.00004
|
NM_001077365.2(POMT1):c.699+85C>G
|
rs369000699
|
0.00004
|
NM_001077365.2(POMT1):c.699+86C>T
|
rs775951652
|
0.00004
|
NM_001079802.2(FKTN):c.*1175C>T
|
rs996474083
|
0.00004
|
NM_001079802.2(FKTN):c.1173-8T>C
|
rs767093535
|
0.00004
|
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)
|
rs146272618
|
0.00004
|
NM_001079802.2(FKTN):c.1248C>T (p.Leu416=)
|
rs774804160
|
0.00004
|
NM_001079802.2(FKTN):c.1383T>C (p.Tyr461=)
|
rs140899569
|
0.00004
|
NM_001079802.2(FKTN):c.207T>C (p.Asn69=)
|
rs752921570
|
0.00004
|
NM_001079802.2(FKTN):c.397A>G (p.Met133Val)
|
rs569778463
|
0.00004
|
NM_001079802.2(FKTN):c.444C>T (p.Asp148=)
|
rs759808323
|
0.00004
|
NM_001079802.2(FKTN):c.647+19C>T
|
rs371472520
|
0.00004
|
NM_001079802.2(FKTN):c.854C>T (p.Ala285Val)
|
rs137951613
|
0.00004
|
NM_001079802.2(FKTN):c.877G>C (p.Val293Leu)
|
rs146900302
|
0.00004
|
NM_001101426.4(CRPPA):c.304A>G (p.Met102Val)
|
rs763300192
|
0.00004
|
NM_001101426.4(CRPPA):c.307G>A (p.Glu103Lys)
|
rs775902619
|
0.00004
|
NM_001101426.4(CRPPA):c.347G>A (p.Arg116His)
|
rs748777770
|
0.00004
|
NM_001101426.4(CRPPA):c.789+9G>A
|
rs375132134
|
0.00004
|
NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly)
|
rs547473863
|
0.00004
|
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)
|
rs386834010
|
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_002206.3(ITGA7):c.1281+12C>T
|
rs757398323
|
0.00004
|
NM_002206.3(ITGA7):c.1395C>T (p.Thr465=)
|
rs199722672
|
0.00004
|
NM_002206.3(ITGA7):c.1481A>G (p.Asn494Ser)
|
rs374707420
|
0.00004
|
NM_002206.3(ITGA7):c.1568-18T>C
|
rs371316432
|
0.00004
|
NM_002206.3(ITGA7):c.1577A>G (p.Tyr526Cys)
|
rs201280060
|
0.00004
|
NM_002206.3(ITGA7):c.1671C>T (p.Ala557=)
|
rs570999139
|
0.00004
|
NM_002206.3(ITGA7):c.1829G>T (p.Gly610Val)
|
rs550384423
|
0.00004
|
NM_002206.3(ITGA7):c.1831C>T (p.Leu611=)
|
rs776107991
|
0.00004
|
NM_002206.3(ITGA7):c.1918G>A (p.Asp640Asn)
|
rs751879922
|
0.00004
|
NM_002206.3(ITGA7):c.2133C>T (p.Ala711=)
|
rs776810723
|
0.00004
|
NM_002206.3(ITGA7):c.2196+7A>G
|
rs751488036
|
0.00004
|
NM_002206.3(ITGA7):c.227A>G (p.Gln76Arg)
|
rs767427150
|
0.00004
|
NM_002206.3(ITGA7):c.2282C>T (p.Thr761Ile)
|
rs550342721
|
0.00004
|
NM_002206.3(ITGA7):c.2357+17C>T
|
rs781251315
|
0.00004
|
NM_002206.3(ITGA7):c.2467G>A (p.Val823Met)
|
rs146163713
|
0.00004
|
NM_002206.3(ITGA7):c.2545C>G (p.Gln849Glu)
|
rs143055936
|
0.00004
|
NM_002206.3(ITGA7):c.2550C>T (p.Gly850=)
|
rs751592658
|
0.00004
|
NM_002206.3(ITGA7):c.255G>A (p.Ala85=)
|
rs768742655
|
0.00004
|
NM_002206.3(ITGA7):c.260G>A (p.Arg87His)
|
rs775800333
|
0.00004
|
NM_002206.3(ITGA7):c.2707C>T (p.His903Tyr)
|
rs372692039
|
0.00004
|
NM_002206.3(ITGA7):c.2713-9C>T
|
rs201569851
|
0.00004
|
NM_002206.3(ITGA7):c.2794A>G (p.Met932Val)
|
rs779191862
|
0.00004
|
NM_002206.3(ITGA7):c.2844+20G>A
|
rs754459718
|
0.00004
|
NM_002206.3(ITGA7):c.287T>G (p.Leu96Trp)
|
rs886042999
|
0.00004
|
NM_002206.3(ITGA7):c.2932C>T (p.Arg978Cys)
|
rs147664595
|
0.00004
|
NM_002206.3(ITGA7):c.2963A>G (p.Tyr988Cys)
|
rs1191095890
|
0.00004
|
NM_002206.3(ITGA7):c.2990T>C (p.Ile997Thr)
|
rs112392939
|
0.00004
|
NM_002206.3(ITGA7):c.3253C>T (p.Arg1085Trp)
|
rs200346980
|
0.00004
|
NM_002206.3(ITGA7):c.671-9C>T
|
rs759306932
|
0.00004
|
NM_002206.3(ITGA7):c.954C>T (p.Ser318=)
|
rs146864775
|
0.00004
|
NM_003863.4(DPM2):c.39C>G (p.Leu13=)
|
rs757467123
|
0.00004
|
NM_003863.4(DPM2):c.94-19G>A
|
rs760505582
|
0.00004
|
NM_003863.4(DPM2):c.94-9C>T
|
rs373340697
|
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_004393.6(DAG1):c.1046C>T (p.Pro349Leu)
|
rs200233956
|
0.00004
|
NM_004393.6(DAG1):c.1283G>A (p.Arg428Gln)
|
rs780793711
|
0.00004
|
NM_004393.6(DAG1):c.1370G>A (p.Arg457Gln)
|
rs756890406
|
0.00004
|
NM_004393.6(DAG1):c.1432A>G (p.Thr478Ala)
|
rs767278957
|
0.00004
|
NM_004393.6(DAG1):c.1695C>T (p.Pro565=)
|
rs773066265
|
0.00004
|
NM_004393.6(DAG1):c.2022C>T (p.Ile674=)
|
rs199795910
|
0.00004
|
NM_004393.6(DAG1):c.2026G>C (p.Gly676Arg)
|
rs757032530
|
0.00004
|
NM_004393.6(DAG1):c.2038C>T (p.Arg680Trp)
|
rs775023091
|
0.00004
|
NM_004393.6(DAG1):c.2039G>A (p.Arg680Gln)
|
rs376931365
|
0.00004
|
NM_004393.6(DAG1):c.2065C>T (p.Arg689Trp)
|
rs138933315
|
0.00004
|
NM_004393.6(DAG1):c.2123C>T (p.Thr708Met)
|
rs758254304
|
0.00004
|
NM_004393.6(DAG1):c.219C>T (p.Val73=)
|
rs145165301
|
0.00004
|
NM_004393.6(DAG1):c.220G>A (p.Val74Ile)
|
rs189360006
|
0.00004
|
NM_004393.6(DAG1):c.222C>T (p.Val74=)
|
rs150727558
|
0.00004
|
NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys)
|
rs752441031
|
0.00004
|
NM_004393.6(DAG1):c.243C>G (p.Thr81=)
|
rs202047972
|
0.00004
|
NM_004393.6(DAG1):c.2660G>A (p.Arg887Gln)
|
rs776025512
|
0.00004
|
NM_004393.6(DAG1):c.286-5T>C
|
rs894752417
|
0.00004
|
NM_004393.6(DAG1):c.294G>A (p.Ala98=)
|
rs752506833
|
0.00004
|
NM_004393.6(DAG1):c.45G>A (p.Gly15=)
|
rs771967262
|
0.00004
|
NM_004393.6(DAG1):c.535T>A (p.Ser179Thr)
|
rs201869343
|
0.00004
|
NM_004393.6(DAG1):c.539C>T (p.Ser180Phe)
|
rs756584618
|
0.00004
|
NM_004393.6(DAG1):c.835G>T (p.Ala279Ser)
|
rs202239406
|
0.00004
|
NM_004393.6(DAG1):c.853G>A (p.Ala285Thr)
|
rs78720195
|
0.00004
|
NM_004393.6(DAG1):c.971T>A (p.Ile324Asn)
|
rs745449164
|
0.00004
|
NM_005198.5(CHKB):c.1018G>C (p.Val340Leu)
|
rs756893592
|
0.00004
|
NM_005198.5(CHKB):c.1031+9G>A
|
rs773203764
|
0.00004
|
NM_005198.5(CHKB):c.184C>T (p.Arg62Cys)
|
rs147043849
|
0.00004
|
NM_005198.5(CHKB):c.293C>T (p.Pro98Leu)
|
rs750678988
|
0.00004
|
NM_005198.5(CHKB):c.687A>G (p.Leu229=)
|
rs754693809
|
0.00004
|
NM_005198.5(CHKB):c.737-16C>T
|
rs773669615
|
0.00004
|
NM_005198.5(CHKB):c.908A>G (p.Tyr303Cys)
|
rs143061031
|
0.00004
|
NM_006876.3(B4GAT1):c.241G>A (p.Val81Ile)
|
rs774458027
|
0.00004
|
NM_006876.3(B4GAT1):c.297G>A (p.Thr99=)
|
rs772838995
|
0.00004
|
NM_006876.3(B4GAT1):c.312C>T (p.Asp104=)
|
rs781614449
|
0.00004
|
NM_013382.7(POMT2):c.*119T>C
|
rs886050824
|
0.00004
|
NM_013382.7(POMT2):c.*11A>G
|
rs373236103
|
0.00004
|
NM_013382.7(POMT2):c.*1265T>G
|
rs886050816
|
0.00004
|
NM_013382.7(POMT2):c.*2359A>T
|
rs564345093
|
0.00004
|
NM_013382.7(POMT2):c.*809G>A
|
rs1035134599
|
0.00004
|
NM_013382.7(POMT2):c.1017C>T (p.Tyr339=)
|
rs1026361359
|
0.00004
|
NM_013382.7(POMT2):c.1081C>T (p.Leu361Phe)
|
rs771509741
|
0.00004
|
NM_013382.7(POMT2):c.1106G>A (p.Arg369His)
|
rs398124260
|
0.00004
|
NM_013382.7(POMT2):c.1142A>G (p.Tyr381Cys)
|
rs375840897
|
0.00004
|
NM_013382.7(POMT2):c.1253+9A>G
|
rs187294379
|
0.00004
|
NM_013382.7(POMT2):c.128A>G (p.Lys43Arg)
|
rs745417690
|
0.00004
|
NM_013382.7(POMT2):c.1485-4A>C
|
rs794727127
|
0.00004
|
NM_013382.7(POMT2):c.1654-10C>T
|
rs754208063
|
0.00004
|
NM_013382.7(POMT2):c.1692G>A (p.Thr564=)
|
rs183828175
|
0.00004
|
NM_013382.7(POMT2):c.1700C>T (p.Pro567Leu)
|
rs376689848
|
0.00004
|
NM_013382.7(POMT2):c.1732C>T (p.Arg578Cys)
|
rs148466370
|
0.00004
|
NM_013382.7(POMT2):c.1785G>A (p.Pro595=)
|
rs202237807
|
0.00004
|
NM_013382.7(POMT2):c.1913G>A (p.Arg638Gln)
|
rs779390236
|
0.00004
|
NM_013382.7(POMT2):c.2013C>T (p.Leu671=)
|
rs751776398
|
0.00004
|
NM_013382.7(POMT2):c.2058G>T (p.Arg686=)
|
rs751651828
|
0.00004
|
NM_013382.7(POMT2):c.41T>C (p.Leu14Pro)
|
rs777504929
|
0.00004
|
NM_013382.7(POMT2):c.61T>C (p.Cys21Arg)
|
rs767316912
|
0.00004
|
NM_013382.7(POMT2):c.631G>A (p.Val211Ile)
|
rs373139592
|
0.00004
|
NM_013382.7(POMT2):c.817-18G>A
|
rs200104520
|
0.00004
|
NM_013382.7(POMT2):c.817-19C>T
|
rs202191456
|
0.00004
|
NM_013382.7(POMT2):c.846T>A (p.Arg282=)
|
rs750579071
|
0.00004
|
NM_017739.4(POMGNT1):c.1101C>T (p.Arg367=)
|
rs775495503
|
0.00004
|
NM_017739.4(POMGNT1):c.1195G>A (p.Ala399Thr)
|
rs1276215978
|
0.00004
|
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
|
rs28940869
|
0.00004
|
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)
|
rs267606960
|
0.00004
|
NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=)
|
rs375432782
|
0.00004
|
NM_017739.4(POMGNT1):c.1568A>G (p.Asn523Ser)
|
rs372610527
|
0.00004
|
NM_017739.4(POMGNT1):c.1571C>T (p.Thr524Met)
|
rs769180238
|
0.00004
|
NM_017739.4(POMGNT1):c.1604+14G>A
|
rs746108694
|
0.00004
|
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr)
|
rs374401585
|
0.00004
|
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)
|
rs199534074
|
0.00004
|
NM_017739.4(POMGNT1):c.208G>A (p.Glu70Lys)
|
rs201361648
|
0.00004
|
NM_017739.4(POMGNT1):c.268C>T (p.Arg90Cys)
|
rs144959783
|
0.00004
|
NM_017739.4(POMGNT1):c.354+3C>T
|
rs372425155
|
0.00004
|
NM_017739.4(POMGNT1):c.492C>T (p.Leu164=)
|
rs562534688
|
0.00004
|
NM_017739.4(POMGNT1):c.751+10G>A
|
rs200759272
|
0.00004
|
NM_017739.4(POMGNT1):c.772G>A (p.Asp258Asn)
|
rs143736961
|
0.00004
|
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)
|
rs193919336
|
0.00004
|
NM_017739.4(POMGNT1):c.951-12T>C
|
rs753164362
|
0.00004
|
NM_017739.4(POMGNT1):c.99G>T (p.Arg33=)
|
rs767852518
|
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_021971.4(GMPPB):c.656T>C (p.Ile219Thr)
|
rs761714818
|
0.00004
|
NM_021971.4(GMPPB):c.953T>C (p.Val318Ala)
|
rs559784211
|
0.00004
|
NM_024301.5(FKRP):c.1119C>A (p.Gly373=)
|
rs370575962
|
0.00004
|
NM_024301.5(FKRP):c.1236C>T (p.His412=)
|
rs201076863
|
0.00004
|
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val)
|
rs749109905
|
0.00004
|
NM_024301.5(FKRP):c.1377G>C (p.Ala459=)
|
rs770845177
|
0.00004
|
NM_024301.5(FKRP):c.1407G>A (p.Leu469=)
|
rs1351635868
|
0.00004
|
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter)
|
rs1051900223
|
0.00004
|
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser)
|
rs747511445
|
0.00004
|
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)
|
rs758759348
|
0.00004
|
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)
|
rs543163491
|
0.00004
|
NM_024301.5(FKRP):c.569G>A (p.Arg190His)
|
rs917645867
|
0.00004
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
NM_032237.5(POMK):c.142T>C (p.Ser48Pro)
|
rs34466747
|
0.00004
|
NM_032237.5(POMK):c.236C>G (p.Thr79Arg)
|
rs773908820
|
0.00004
|
NM_032237.5(POMK):c.363T>C (p.His121=)
|
rs374766465
|
0.00004
|
NM_032237.5(POMK):c.773A>G (p.Gln258Arg)
|
rs397509386
|
0.00004
|
NM_032237.5(POMK):c.796G>A (p.Val266Met)
|
rs543448796
|
0.00004
|
NM_032806.6(POMGNT2):c.1181G>A (p.Arg394Gln)
|
rs199612856
|
0.00004
|
NM_032806.6(POMGNT2):c.1246C>T (p.His416Tyr)
|
rs373885542
|
0.00004
|
NM_032806.6(POMGNT2):c.1660A>G (p.Thr554Ala)
|
rs202058055
|
0.00004
|
NM_032806.6(POMGNT2):c.1725G>A (p.Val575=)
|
rs371375820
|
0.00004
|
NM_032806.6(POMGNT2):c.1739C>T (p.Thr580Met)
|
rs367621319
|
0.00004
|
NM_032806.6(POMGNT2):c.222C>T (p.His74=)
|
rs141040291
|
0.00004
|
NM_032806.6(POMGNT2):c.230G>A (p.Arg77His)
|
rs769075803
|
0.00004
|
NM_032806.6(POMGNT2):c.25G>A (p.Ala9Thr)
|
rs761633368
|
0.00004
|
NM_032806.6(POMGNT2):c.286T>G (p.Phe96Val)
|
rs140047437
|
0.00004
|
NM_032806.6(POMGNT2):c.30C>T (p.Leu10=)
|
rs147920308
|
0.00004
|
NM_032806.6(POMGNT2):c.397G>A (p.Val133Met)
|
rs139204684
|
0.00004
|
NM_032806.6(POMGNT2):c.437C>T (p.Pro146Leu)
|
rs780964337
|
0.00004
|
NM_032806.6(POMGNT2):c.453C>T (p.Asp151=)
|
rs547735064
|
0.00004
|
NM_032806.6(POMGNT2):c.510C>T (p.Asp170=)
|
rs148958732
|
0.00004
|
NM_032806.6(POMGNT2):c.594C>T (p.Gly198=)
|
rs766704217
|
0.00004
|
NM_032806.6(POMGNT2):c.598G>A (p.Gly200Ser)
|
rs750647755
|
0.00004
|
NM_032806.6(POMGNT2):c.896T>G (p.Leu299Arg)
|
rs942782071
|
0.00004
|
NM_133642.5(LARGE1):c.*566G>A
|
rs878945156
|
0.00004
|
NM_133642.5(LARGE1):c.1116C>T (p.Asp372=)
|
rs398124182
|
0.00004
|
NM_133642.5(LARGE1):c.1287+11C>T
|
rs398124183
|
0.00004
|
NM_133642.5(LARGE1):c.1287C>T (p.Asn429=)
|
rs561439887
|
0.00004
|
NM_133642.5(LARGE1):c.1349G>A (p.Arg450His)
|
rs371071263
|
0.00004
|
NM_133642.5(LARGE1):c.1413C>A (p.Ser471Arg)
|
rs376160270
|
0.00004
|
NM_133642.5(LARGE1):c.1451+11C>T
|
rs201322547
|
0.00004
|
NM_133642.5(LARGE1):c.1597A>G (p.Ile533Val)
|
rs566107119
|
0.00004
|
NM_133642.5(LARGE1):c.1746G>A (p.Gln582=)
|
rs114161191
|
0.00004
|
NM_133642.5(LARGE1):c.1941G>A (p.Thr647=)
|
rs770327327
|
0.00004
|
NM_133642.5(LARGE1):c.201G>C (p.Val67=)
|
rs135312
|
0.00004
|
NM_133642.5(LARGE1):c.221A>C (p.Glu74Ala)
|
rs751789128
|
0.00004
|
NM_133642.5(LARGE1):c.2222G>A (p.Arg741His)
|
rs747003834
|
0.00004
|
NM_133642.5(LARGE1):c.2257G>A (p.Glu753Lys)
|
rs139853494
|
0.00004
|
NM_133642.5(LARGE1):c.259C>A (p.Gln87Lys)
|
rs373853930
|
0.00004
|
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln)
|
rs763697782
|
0.00004
|
NM_133642.5(LARGE1):c.533C>T (p.Ala178Val)
|
rs377460238
|
0.00004
|
NM_133642.5(LARGE1):c.703C>T (p.Leu235=)
|
rs376057149
|
0.00004
|
NM_133642.5(LARGE1):c.81T>A (p.Ile27=)
|
rs145861048
|
0.00004
|
NM_152490.5(B3GALNT2):c.102C>G (p.Ala34=)
|
rs1358930332
|
0.00004
|
NM_152490.5(B3GALNT2):c.1090G>A (p.Glu364Lys)
|
rs138436770
|
0.00004
|
NM_152490.5(B3GALNT2):c.1434G>A (p.Pro478=)
|
rs754116208
|
0.00004
|
NM_152490.5(B3GALNT2):c.29C>G (p.Pro10Arg)
|
rs1335073175
|
0.00004
|
NM_152490.5(B3GALNT2):c.31T>G (p.Cys11Gly)
|
rs953296331
|
0.00004
|
NM_152490.5(B3GALNT2):c.396C>T (p.Ser132=)
|
rs140100348
|
0.00004
|
NM_152490.5(B3GALNT2):c.397G>A (p.Glu133Lys)
|
rs146090744
|
0.00004
|
NM_152490.5(B3GALNT2):c.500A>G (p.Asn167Ser)
|
rs144123418
|
0.00004
|
NM_152490.5(B3GALNT2):c.628G>A (p.Val210Met)
|
rs781198538
|
0.00004
|
NM_152490.5(B3GALNT2):c.64C>T (p.Arg22Trp)
|
rs962461243
|
0.00004
|
NM_152490.5(B3GALNT2):c.706A>G (p.Arg236Gly)
|
rs113948040
|
0.00004
|
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn)
|
rs753340395
|
0.00004
|
NM_153741.2(DPM3):c.127G>A (p.Ala43Thr)
|
rs778766264
|
0.00004
|
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys)
|
rs755686359
|
0.00004
|
NM_170707.4(LMNA):c.1299C>T (p.His433=)
|
rs61217436
|
0.00004
|
NM_170707.4(LMNA):c.1931G>A (p.Arg644His)
|
rs368386019
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_170707.4(LMNA):c.467G>A (p.Arg156His)
|
rs764475194
|
0.00004
|
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser)
|
rs760388350
|
0.00004
|
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)
|
rs765241364
|
0.00004
|
NM_170707.4(LMNA):c.936+12C>T
|
rs199881992
|
0.00004
|
NM_173660.5(DOK7):c.1023C>T (p.Ala341=)
|
rs773612095
|
0.00004
|
NM_173660.5(DOK7):c.1138G>T (p.Ala380Ser)
|
rs760412846
|
0.00004
|
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr)
|
rs753026831
|
0.00004
|
NM_173660.5(DOK7):c.1384A>G (p.Ser462Gly)
|
rs771017173
|
0.00004
|
NM_173660.5(DOK7):c.1386C>T (p.Ser462=)
|
rs776733631
|
0.00004
|
NM_173660.5(DOK7):c.257C>T (p.Ala86Val)
|
rs575986565
|
0.00004
|
NM_173660.5(DOK7):c.308G>A (p.Arg103Gln)
|
rs377554325
|
0.00004
|
NM_173660.5(DOK7):c.54+10C>T
|
rs1260785223
|
0.00004
|
NM_173660.5(DOK7):c.541G>A (p.Val181Ile)
|
rs146076204
|
0.00004
|
NM_173660.5(DOK7):c.652+14C>G
|
rs368188578
|
0.00004
|
NM_173660.5(DOK7):c.730C>T (p.Arg244Trp)
|
rs140544446
|
0.00004
|
NM_173660.5(DOK7):c.772+20T>C
|
rs376466543
|
0.00004
|
NM_173660.5(DOK7):c.773-7G>A
|
rs775008753
|
0.00004
|
NM_173660.5(DOK7):c.797C>T (p.Ser266Leu)
|
rs763936252
|
0.00004
|
NM_173660.5(DOK7):c.866C>T (p.Ser289Leu)
|
rs748566350
|
0.00004
|
NM_173660.5(DOK7):c.880A>G (p.Thr294Ala)
|
rs143821601
|
0.00004
|
NM_173660.5(DOK7):c.952C>A (p.Pro318Thr)
|
rs754476094
|
0.00004
|
NM_000426.4(LAMA2):c.2451-2A>G
|
rs993196576
|
0.00003
|
NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln)
|
rs759973830
|
0.00003
|
NM_000426.4(LAMA2):c.2609A>G (p.Asn870Ser)
|
rs1322715021
|
0.00003
|
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter)
|
rs145420388
|
0.00003
|
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)
|
rs398123373
|
0.00003
|
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn)
|
rs375640462
|
0.00003
|
NM_000426.4(LAMA2):c.4960-17C>A
|
rs758048596
|
0.00003
|
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)
|
rs747349942
|
0.00003
|
NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln)
|
rs373614496
|
0.00003
|
NM_000426.4(LAMA2):c.6269-829A>G
|
rs758519410
|
0.00003
|
NM_000426.4(LAMA2):c.640-1G>A
|
rs1296761337
|
0.00003
|
NM_000426.4(LAMA2):c.6702A>T (p.Ala2234=)
|
rs372212378
|
0.00003
|
NM_000426.4(LAMA2):c.712G>A (p.Ala238Thr)
|
rs779975082
|
0.00003
|
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)
|
rs1209130981
|
0.00003
|
NM_001077365.2(POMT1):c.-30G>A
|
rs780382988
|
0.00003
|
NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser)
|
rs756531223
|
0.00003
|
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn)
|
rs141229412
|
0.00003
|
NM_001077365.2(POMT1):c.111G>C (p.Pro37=)
|
rs761641734
|
0.00003
|
NM_001077365.2(POMT1):c.1302C>T (p.Asp434=)
|
rs568246978
|
0.00003
|
NM_001077365.2(POMT1):c.1366-11G>A
|
rs1157478556
|
0.00003
|
NM_001077365.2(POMT1):c.1366-12C>T
|
rs757666938
|
0.00003
|
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=)
|
rs727503872
|
0.00003
|
NM_001077365.2(POMT1):c.1584+10G>A
|
rs377495957
|
0.00003
|
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)
|
rs149682171
|
0.00003
|
NM_001077365.2(POMT1):c.2004-1G>C
|
rs745738628
|
0.00003
|
NM_001077365.2(POMT1):c.202T>C (p.Phe68Leu)
|
rs138433752
|
0.00003
|
NM_001077365.2(POMT1):c.2032G>A (p.Ala678Thr)
|
rs747903773
|
0.00003
|
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys)
|
rs200179598
|
0.00003
|
NM_001077365.2(POMT1):c.291C>T (p.Ser97=)
|
rs780884926
|
0.00003
|
NM_001077365.2(POMT1):c.294C>T (p.Asn98=)
|
rs745810979
|
0.00003
|
NM_001077365.2(POMT1):c.328C>T (p.Leu110Phe)
|
rs1338443127
|
0.00003
|
NM_001077365.2(POMT1):c.600A>G (p.Ala200=)
|
rs755854450
|
0.00003
|
NM_001077365.2(POMT1):c.630G>A (p.Thr210=)
|
rs553160213
|
0.00003
|
NM_001077365.2(POMT1):c.634G>A (p.Val212Met)
|
rs746119386
|
0.00003
|
NM_001077365.2(POMT1):c.699+72T>C
|
rs200780140
|
0.00003
|
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile)
|
rs772590277
|
0.00003
|
NM_001079802.2(FKTN):c.*1276C>T
|
rs886063325
|
0.00003
|
NM_001079802.2(FKTN):c.*2505A>G
|
rs367988702
|
0.00003
|
NM_001079802.2(FKTN):c.*760A>C
|
rs532531159
|
0.00003
|
NM_001079802.2(FKTN):c.*79C>T
|
rs530616539
|
0.00003
|
NM_001079802.2(FKTN):c.-136A>G
|
rs886063318
|
0.00003
|
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys)
|
rs765934383
|
0.00003
|
NM_001079802.2(FKTN):c.124A>G (p.Lys42Glu)
|
rs752663857
|
0.00003
|
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys)
|
rs759936979
|
0.00003
|
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln)
|
rs753641411
|
0.00003
|
NM_001079802.2(FKTN):c.247A>G (p.Ile83Val)
|
rs757798867
|
0.00003
|
NM_001079802.2(FKTN):c.393G>A (p.Glu131=)
|
rs1472560195
|
0.00003
|
NM_001079802.2(FKTN):c.402A>T (p.Gly134=)
|
rs780921233
|
0.00003
|
NM_001079802.2(FKTN):c.510G>A (p.Ala170=)
|
rs187804924
|
0.00003
|
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)
|
rs373418195
|
0.00003
|
NM_001079802.2(FKTN):c.821G>A (p.Arg274Gln)
|
rs767503045
|
0.00003
|
NM_001079802.2(FKTN):c.911-8C>A
|
rs749557617
|
0.00003
|
NM_001101426.4(CRPPA):c.1120-10T>C
|
rs200836986
|
0.00003
|
NM_001101426.4(CRPPA):c.1251+11T>C
|
rs199790485
|
0.00003
|
NM_001101426.4(CRPPA):c.1264C>T (p.Leu422=)
|
rs375514450
|
0.00003
|
NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro)
|
rs886043637
|
0.00003
|
NM_001101426.4(CRPPA):c.362A>G (p.Glu121Gly)
|
rs757846188
|
0.00003
|
NM_001101426.4(CRPPA):c.614G>A (p.Arg205His)
|
rs566179705
|
0.00003
|
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter)
|
rs370627877
|
0.00003
|
NM_001101426.4(CRPPA):c.695A>G (p.Tyr232Cys)
|
rs200114996
|
0.00003
|
NM_001101426.4(CRPPA):c.815C>T (p.Ala272Val)
|
rs765545106
|
0.00003
|
NM_001101426.4(CRPPA):c.827T>C (p.Ile276Thr)
|
rs1314571093
|
0.00003
|
NM_001378328.1(CELSR1):c.4415C>G (p.Thr1472Ser)
|
rs931374138
|
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_002206.3(ITGA7):c.1040G>A (p.Arg347His)
|
rs775063840
|
0.00003
|
NM_002206.3(ITGA7):c.1143C>T (p.Phe381=)
|
rs774888135
|
0.00003
|
NM_002206.3(ITGA7):c.1459A>G (p.Ser487Gly)
|
rs934502279
|
0.00003
|
NM_002206.3(ITGA7):c.1506-4G>A
|
rs755782601
|
0.00003
|
NM_002206.3(ITGA7):c.1534A>G (p.Ile512Val)
|
rs767276735
|
0.00003
|
NM_002206.3(ITGA7):c.1639A>G (p.Ser547Gly)
|
rs775740380
|
0.00003
|
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter)
|
rs141365537
|
0.00003
|
NM_002206.3(ITGA7):c.1888-3C>T
|
rs759601500
|
0.00003
|
NM_002206.3(ITGA7):c.1966A>G (p.Thr656Ala)
|
rs145740314
|
0.00003
|
NM_002206.3(ITGA7):c.2004-8C>T
|
rs374198533
|
0.00003
|
NM_002206.3(ITGA7):c.2145C>A (p.Val715=)
|
rs375961499
|
0.00003
|
NM_002206.3(ITGA7):c.2307C>T (p.Ser769=)
|
rs781670676
|
0.00003
|
NM_002206.3(ITGA7):c.2399G>A (p.Arg800His)
|
rs143929243
|
0.00003
|
NM_002206.3(ITGA7):c.254C>T (p.Ala85Val)
|
rs150476577
|
0.00003
|
NM_002206.3(ITGA7):c.2556G>A (p.Ser852=)
|
rs138301131
|
0.00003
|
NM_002206.3(ITGA7):c.2712+19T>C
|
rs200542108
|
0.00003
|
NM_002206.3(ITGA7):c.2738G>A (p.Arg913Gln)
|
rs755263823
|
0.00003
|
NM_002206.3(ITGA7):c.3057+20G>A
|
rs567515236
|
0.00003
|
NM_002206.3(ITGA7):c.3309C>G (p.Asn1103Lys)
|
rs768823556
|
0.00003
|
NM_002206.3(ITGA7):c.3322C>T (p.Arg1108Trp)
|
rs775801045
|
0.00003
|
NM_002206.3(ITGA7):c.3409G>A (p.Ala1137Thr)
|
rs772419744
|
0.00003
|
NM_002206.3(ITGA7):c.385C>T (p.Arg129Trp)
|
rs773647967
|
0.00003
|
NM_002206.3(ITGA7):c.485G>A (p.Arg162His)
|
rs781445250
|
0.00003
|
NM_002206.3(ITGA7):c.659A>G (p.Tyr220Cys)
|
rs748436706
|
0.00003
|
NM_002206.3(ITGA7):c.746G>A (p.Arg249Gln)
|
rs372043286
|
0.00003
|
NM_002206.3(ITGA7):c.780T>C (p.Asn260=)
|
rs761176970
|
0.00003
|
NM_002206.3(ITGA7):c.806C>T (p.Ser269Leu)
|
rs764610914
|
0.00003
|
NM_002206.3(ITGA7):c.925G>T (p.Val309Phe)
|
rs140716825
|
0.00003
|
NM_003863.4(DPM2):c.146A>G (p.Tyr49Cys)
|
rs779093563
|
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_004393.6(DAG1):c.1181G>A (p.Gly394Asp)
|
rs1318377074
|
0.00003
|
NM_004393.6(DAG1):c.1556C>T (p.Pro519Leu)
|
rs761585454
|
0.00003
|
NM_004393.6(DAG1):c.1846C>T (p.Pro616Ser)
|
rs372730352
|
0.00003
|
NM_004393.6(DAG1):c.1937C>T (p.Thr646Ile)
|
rs745546522
|
0.00003
|
NM_004393.6(DAG1):c.1966G>A (p.Val656Met)
|
rs1313375346
|
0.00003
|
NM_004393.6(DAG1):c.2023G>A (p.Ala675Thr)
|
rs764063699
|
0.00003
|
NM_004393.6(DAG1):c.213G>A (p.Thr71=)
|
rs148703095
|
0.00003
|
NM_004393.6(DAG1):c.2451C>G (p.Leu817=)
|
rs886042761
|
0.00003
|
NM_004393.6(DAG1):c.2536A>C (p.Thr846Pro)
|
rs775365808
|
0.00003
|
NM_004393.6(DAG1):c.2600C>T (p.Pro867Leu)
|
rs199506692
|
0.00003
|
NM_004393.6(DAG1):c.2659C>T (p.Arg887Trp)
|
rs148461041
|
0.00003
|
NM_004393.6(DAG1):c.2667T>A (p.Pro889=)
|
rs760977919
|
0.00003
|
NM_004393.6(DAG1):c.414G>T (p.Leu138=)
|
rs763846062
|
0.00003
|
NM_004393.6(DAG1):c.634C>A (p.His212Asn)
|
rs146574353
|
0.00003
|
NM_005198.5(CHKB):c.*126C>T
|
rs112742765
|
0.00003
|
NM_005198.5(CHKB):c.1006G>A (p.Glu336Lys)
|
rs374337406
|
0.00003
|
NM_005198.5(CHKB):c.1008A>T (p.Glu336Asp)
|
rs559736493
|
0.00003
|
NM_005198.5(CHKB):c.1113+4A>T
|
rs760858639
|
0.00003
|
NM_005198.5(CHKB):c.214T>C (p.Tyr72His)
|
rs747691808
|
0.00003
|
NM_005198.5(CHKB):c.279C>T (p.Ser93=)
|
rs376846624
|
0.00003
|
NM_005198.5(CHKB):c.365T>C (p.Met122Thr)
|
rs754126452
|
0.00003
|
NM_005198.5(CHKB):c.819-9T>C
|
rs368960649
|
0.00003
|
NM_005198.5(CHKB):c.927+10C>G
|
rs549171476
|
0.00003
|
NM_005198.5(CHKB):c.928-11A>G
|
rs771040904
|
0.00003
|
NM_006876.3(B4GAT1):c.1022G>A (p.Arg341His)
|
rs770685607
|
0.00003
|
NM_006876.3(B4GAT1):c.156C>T (p.Ser52=)
|
rs767852256
|
0.00003
|
NM_006876.3(B4GAT1):c.338T>C (p.Leu113Pro)
|
rs757942327
|
0.00003
|
NM_006876.3(B4GAT1):c.951C>T (p.Tyr317=)
|
rs774619108
|
0.00003
|
NM_007171.3(POMT1):c.-195C>T
|
rs886063536
|
0.00003
|
NM_007171.3(POMT1):c.-196G>T
|
rs886063535
|
0.00003
|
NM_013382.7(POMT2):c.*349G>A
|
rs886050822
|
0.00003
|
NM_013382.7(POMT2):c.*927G>C
|
rs886050818
|
0.00003
|
NM_013382.7(POMT2):c.1006+1G>A
|
rs533916138
|
0.00003
|
NM_013382.7(POMT2):c.1094G>A (p.Gly365Asp)
|
rs139830891
|
0.00003
|
NM_013382.7(POMT2):c.1121C>G (p.Thr374Ser)
|
rs973161535
|
0.00003
|
NM_013382.7(POMT2):c.1135A>G (p.Lys379Glu)
|
rs777172630
|
0.00003
|
NM_013382.7(POMT2):c.1290C>T (p.Ala430=)
|
rs886043974
|
0.00003
|
NM_013382.7(POMT2):c.1320C>T (p.Thr440=)
|
rs143342682
|
0.00003
|
NM_013382.7(POMT2):c.1653+4T>G
|
rs555289061
|
0.00003
|
NM_013382.7(POMT2):c.1725+4G>A
|
rs758851815
|
0.00003
|
NM_013382.7(POMT2):c.1743G>A (p.Gly581=)
|
rs755254043
|
0.00003
|
NM_013382.7(POMT2):c.1927G>C (p.Val643Leu)
|
rs966965226
|
0.00003
|
NM_013382.7(POMT2):c.1932G>A (p.Leu644=)
|
rs760608239
|
0.00003
|
NM_013382.7(POMT2):c.2040G>A (p.Leu680=)
|
rs951171938
|
0.00003
|
NM_013382.7(POMT2):c.2072G>T (p.Gly691Val)
|
rs758678348
|
0.00003
|
NM_013382.7(POMT2):c.248+20C>G
|
rs1471456899
|
0.00003
|
NM_013382.7(POMT2):c.248+9T>C
|
rs754261430
|
0.00003
|
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)
|
rs267606971
|
0.00003
|
NM_013382.7(POMT2):c.553G>A (p.Gly185Arg)
|
rs886050826
|
0.00003
|
NM_013382.7(POMT2):c.599T>C (p.Met200Thr)
|
rs921045202
|
0.00003
|
NM_013382.7(POMT2):c.769A>G (p.Thr257Ala)
|
rs371988132
|
0.00003
|
NM_013382.7(POMT2):c.795C>T (p.Phe265=)
|
rs765276419
|
0.00003
|
NM_013382.7(POMT2):c.925G>A (p.Gly309Ser)
|
rs376046816
|
0.00003
|
NM_016213.5(TRIP4):c.1465C>T (p.Arg489Cys)
|
rs764341782
|
0.00003
|
NM_017739.4(POMGNT1):c.*531C>T
|
rs769094628
|
0.00003
|
NM_017739.4(POMGNT1):c.1030C>T (p.Pro344Ser)
|
rs755454684
|
0.00003
|
NM_017739.4(POMGNT1):c.1230C>G (p.Ile410Met)
|
rs756026992
|
0.00003
|
NM_017739.4(POMGNT1):c.1284+8G>A
|
rs761259999
|
0.00003
|
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys)
|
rs755588045
|
0.00003
|
NM_017739.4(POMGNT1):c.1467G>A (p.Glu489=)
|
rs760759400
|
0.00003
|
NM_017739.4(POMGNT1):c.1697T>C (p.Phe566Ser)
|
rs765906814
|
0.00003
|
NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=)
|
rs386834018
|
0.00003
|
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)
|
rs386834019
|
0.00003
|
NM_017739.4(POMGNT1):c.1783A>G (p.Lys595Glu)
|
rs797045896
|
0.00003
|
NM_017739.4(POMGNT1):c.1786-5A>T
|
rs757014219
|
0.00003
|
NM_017739.4(POMGNT1):c.1933G>C (p.Glu645Gln)
|
rs778115320
|
0.00003
|
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly)
|
rs751402236
|
0.00003
|
NM_017739.4(POMGNT1):c.287G>C (p.Arg96Pro)
|
rs200227264
|
0.00003
|
NM_017739.4(POMGNT1):c.289C>T (p.Arg97Trp)
|
rs564076183
|
0.00003
|
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)
|
rs375420073
|
0.00003
|
NM_017739.4(POMGNT1):c.421-9C>T
|
rs748122023
|
0.00003
|
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)
|
rs776165339
|
0.00003
|
NM_017739.4(POMGNT1):c.444G>A (p.Val148=)
|
rs142016718
|
0.00003
|
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp)
|
rs34058684
|
0.00003
|
NM_017739.4(POMGNT1):c.507C>T (p.Pro169=)
|
rs576860809
|
0.00003
|
NM_017739.4(POMGNT1):c.565G>T (p.Ala189Ser)
|
rs949714416
|
0.00003
|
NM_017739.4(POMGNT1):c.652+8C>T
|
rs778376741
|
0.00003
|
NM_017739.4(POMGNT1):c.653-4C>T
|
rs771765778
|
0.00003
|
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe)
|
rs569061665
|
0.00003
|
NM_017739.4(POMGNT1):c.788G>A (p.Arg263His)
|
rs146078296
|
0.00003
|
NM_017739.4(POMGNT1):c.888C>A (p.Asp296Glu)
|
rs369970994
|
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_021971.4(GMPPB):c.198A>C (p.Ala66=)
|
rs889957809
|
0.00003
|
NM_021971.4(GMPPB):c.211-7C>T
|
rs201109088
|
0.00003
|
NM_021971.4(GMPPB):c.449A>T (p.Glu150Val)
|
rs1185784683
|
0.00003
|
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile)
|
rs202013297
|
0.00003
|
NM_021971.4(GMPPB):c.486G>A (p.Lys162=)
|
rs144305518
|
0.00003
|
NM_021971.4(GMPPB):c.531C>A (p.Ile177=)
|
rs140427047
|
0.00003
|
NM_021971.4(GMPPB):c.573G>A (p.Thr191=)
|
rs775798814
|
0.00003
|
NM_021971.4(GMPPB):c.594C>T (p.Phe198=)
|
rs148249248
|
0.00003
|
NM_021971.4(GMPPB):c.760G>A (p.Val254Met)
|
rs875989850
|
0.00003
|
NM_021971.4(GMPPB):c.769-9C>T
|
rs781777729
|
0.00003
|
NM_021971.4(GMPPB):c.786C>T (p.Ile262=)
|
rs201123231
|
0.00003
|
NM_021971.4(GMPPB):c.812A>G (p.Asn271Ser)
|
rs370840899
|
0.00003
|
NM_021971.4(GMPPB):c.937C>T (p.Arg313Cys)
|
rs144421130
|
0.00003
|
NM_024301.5(FKRP):c.1171G>A (p.Gly391Ser)
|
rs775201067
|
0.00003
|
NM_024301.5(FKRP):c.1320G>A (p.Glu440=)
|
rs765678360
|
0.00003
|
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile)
|
rs369666163
|
0.00003
|
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)
|
rs936866997
|
0.00003
|
NM_024301.5(FKRP):c.435G>A (p.Val145=)
|
rs1422884133
|
0.00003
|
NM_024301.5(FKRP):c.43A>C (p.Thr15Pro)
|
rs886042998
|
0.00003
|
NM_024301.5(FKRP):c.446G>A (p.Arg149His)
|
rs1449983261
|
0.00003
|
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro)
|
rs1318966349
|
0.00003
|
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)
|
rs201951207
|
0.00003
|
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser)
|
rs959679901
|
0.00003
|
NM_024301.5(FKRP):c.795G>C (p.Arg265=)
|
rs1364305668
|
0.00003
|
NM_024301.5(FKRP):c.797C>T (p.Ala266Val)
|
rs1276654268
|
0.00003
|
NM_032237.5(POMK):c.114C>T (p.Leu38=)
|
rs182189714
|
0.00003
|
NM_032237.5(POMK):c.129C>T (p.Ile43=)
|
rs761324803
|
0.00003
|
NM_032237.5(POMK):c.271G>A (p.Ala91Thr)
|
rs1365587547
|
0.00003
|
NM_032237.5(POMK):c.715G>A (p.Gly239Arg)
|
rs35104071
|
0.00003
|
NM_032237.5(POMK):c.774A>G (p.Gln258=)
|
rs759091832
|
0.00003
|
NM_032806.6(POMGNT2):c.1232_1233del (p.Gln411fs)
|
rs747569790
|
0.00003
|
NM_032806.6(POMGNT2):c.1276C>T (p.Leu426=)
|
rs375062544
|
0.00003
|
NM_032806.6(POMGNT2):c.1286G>A (p.Arg429His)
|
rs562988051
|
0.00003
|
NM_032806.6(POMGNT2):c.1313G>A (p.Arg438Gln)
|
rs371405205
|
0.00003
|
NM_032806.6(POMGNT2):c.1389C>T (p.Arg463=)
|
rs756556274
|
0.00003
|
NM_032806.6(POMGNT2):c.14C>T (p.Ala5Val)
|
rs554958082
|
0.00003
|
NM_032806.6(POMGNT2):c.1514C>G (p.Ser505Cys)
|
rs144799574
|
0.00003
|
NM_032806.6(POMGNT2):c.190G>A (p.Gly64Ser)
|
rs548769646
|
0.00003
|
NM_032806.6(POMGNT2):c.232A>G (p.Ile78Val)
|
rs377726627
|
0.00003
|
NM_032806.6(POMGNT2):c.238C>T (p.Arg80Cys)
|
rs780388475
|
0.00003
|
NM_032806.6(POMGNT2):c.243C>G (p.Phe81Leu)
|
rs373382346
|
0.00003
|
NM_032806.6(POMGNT2):c.484G>A (p.Asp162Asn)
|
rs201407522
|
0.00003
|
NM_032806.6(POMGNT2):c.793C>T (p.Arg265Trp)
|
rs753736893
|
0.00003
|
NM_032806.6(POMGNT2):c.81G>A (p.Glu27=)
|
rs201572917
|
0.00003
|
NM_032806.6(POMGNT2):c.861G>A (p.Glu287=)
|
rs187003222
|
0.00003
|
NM_032806.6(POMGNT2):c.997C>T (p.Arg333Trp)
|
rs749833091
|
0.00003
|
NM_133642.5(LARGE1):c.*580C>T
|
rs776235903
|
0.00003
|
NM_133642.5(LARGE1):c.*833A>G
|
rs748248240
|
0.00003
|
NM_133642.5(LARGE1):c.*969G>A
|
rs892305427
|
0.00003
|
NM_133642.5(LARGE1):c.-47C>T
|
rs775356534
|
0.00003
|
NM_133642.5(LARGE1):c.1020C>T (p.Ala340=)
|
rs927885509
|
0.00003
|
NM_133642.5(LARGE1):c.1098C>G (p.Ser366=)
|
rs770224674
|
0.00003
|
NM_133642.5(LARGE1):c.1215G>A (p.Leu405=)
|
rs368009890
|
0.00003
|
NM_133642.5(LARGE1):c.1623C>T (p.Tyr541=)
|
rs370896246
|
0.00003
|
NM_133642.5(LARGE1):c.1626C>T (p.Pro542=)
|
rs775137166
|
0.00003
|
NM_133642.5(LARGE1):c.1677G>A (p.Met559Ile)
|
rs376455063
|
0.00003
|
NM_133642.5(LARGE1):c.1704C>T (p.Pro568=)
|
rs768746727
|
0.00003
|
NM_133642.5(LARGE1):c.2136C>T (p.Phe712=)
|
rs767177452
|
0.00003
|
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=)
|
rs759427879
|
0.00003
|
NM_133642.5(LARGE1):c.2226C>T (p.Tyr742=)
|
rs777773303
|
0.00003
|
NM_133642.5(LARGE1):c.239G>T (p.Arg80Leu)
|
rs761004017
|
0.00003
|
NM_133642.5(LARGE1):c.266G>A (p.Arg89Gln)
|
rs142272515
|
0.00003
|
NM_133642.5(LARGE1):c.409-18G>A
|
rs774311766
|
0.00003
|
NM_133642.5(LARGE1):c.417C>T (p.His139=)
|
rs115575249
|
0.00003
|
NM_133642.5(LARGE1):c.491+11C>G
|
rs781066281
|
0.00003
|
NM_133642.5(LARGE1):c.551C>T (p.Thr184Met)
|
rs138676820
|
0.00003
|
NM_133642.5(LARGE1):c.607G>A (p.Glu203Lys)
|
rs776803926
|
0.00003
|
NM_133642.5(LARGE1):c.63C>A (p.Ile21=)
|
rs759218415
|
0.00003
|
NM_133642.5(LARGE1):c.923G>A (p.Arg308Gln)
|
rs773959791
|
0.00003
|
NM_133642.5(LARGE1):c.957C>T (p.Thr319=)
|
rs778094231
|
0.00003
|
NM_152490.5(B3GALNT2):c.1116A>G (p.Gln372=)
|
rs777198285
|
0.00003
|
NM_152490.5(B3GALNT2):c.1433C>T (p.Pro478Leu)
|
rs373773440
|
0.00003
|
NM_152490.5(B3GALNT2):c.261-11A>G
|
rs768326815
|
0.00003
|
NM_152490.5(B3GALNT2):c.537T>C (p.Leu179=)
|
rs775836647
|
0.00003
|
NM_152490.5(B3GALNT2):c.978C>T (p.Val326=)
|
rs368371048
|
0.00003
|
NM_152490.5(B3GALNT2):c.97G>A (p.Gly33Arg)
|
rs1006228968
|
0.00003
|
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)
|
rs370656306
|
0.00003
|
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln)
|
rs58105277
|
0.00003
|
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln)
|
rs61177390
|
0.00003
|
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)
|
rs762130433
|
0.00003
|
NM_170707.4(LMNA):c.1256G>A (p.Arg419His)
|
rs777648901
|
0.00003
|
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)
|
rs368542816
|
0.00003
|
NM_170707.4(LMNA):c.1380+18G>A
|
rs777846700
|
0.00003
|
NM_170707.4(LMNA):c.1381-13A>G
|
rs750192865
|
0.00003
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
NM_170707.4(LMNA):c.1756G>A (p.Val586Met)
|
rs758048062
|
0.00003
|
NM_170707.4(LMNA):c.937-8C>A
|
rs751707982
|
0.00003
|
NM_173660.5(DOK7):c.1000A>G (p.Ser334Gly)
|
rs769643041
|
0.00003
|
NM_173660.5(DOK7):c.1065C>T (p.Tyr355=)
|
rs200284964
|
0.00003
|
NM_173660.5(DOK7):c.1083C>T (p.Asp361=)
|
rs554026540
|
0.00003
|
NM_173660.5(DOK7):c.1141C>T (p.Pro381Ser)
|
rs574663125
|
0.00003
|
NM_173660.5(DOK7):c.1262C>A (p.Pro421His)
|
rs373261147
|
0.00003
|
NM_173660.5(DOK7):c.1294A>G (p.Arg432Gly)
|
rs1390831169
|
0.00003
|
NM_173660.5(DOK7):c.1451C>T (p.Pro484Leu)
|
rs1057518522
|
0.00003
|
NM_173660.5(DOK7):c.1477C>G (p.Pro493Ala)
|
rs748438470
|
0.00003
|
NM_173660.5(DOK7):c.1496A>G (p.Lys499Arg)
|
rs865879271
|
0.00003
|
NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg)
|
rs762345055
|
0.00003
|
NM_173660.5(DOK7):c.332-6C>G
|
rs1482072459
|
0.00003
|
NM_173660.5(DOK7):c.36G>T (p.Lys12Asn)
|
rs368106071
|
0.00003
|
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)
|
rs770987150
|
0.00003
|
NM_173660.5(DOK7):c.486C>T (p.Ala162=)
|
rs371609452
|
0.00003
|
NM_173660.5(DOK7):c.522G>C (p.Arg174Ser)
|
rs762376200
|
0.00003
|
NM_173660.5(DOK7):c.54+3C>T
|
rs1560200971
|
0.00003
|
NM_173660.5(DOK7):c.55-16C>T
|
rs976572936
|
0.00003
|
NM_173660.5(DOK7):c.564G>A (p.Glu188=)
|
rs375631042
|
0.00003
|
NM_173660.5(DOK7):c.611C>A (p.Ser204Tyr)
|
rs1219693310
|
0.00003
|
NM_173660.5(DOK7):c.638G>A (p.Arg213Gln)
|
rs371408752
|
0.00003
|
NM_173660.5(DOK7):c.674C>T (p.Ser225Leu)
|
rs769699131
|
0.00003
|
NM_173660.5(DOK7):c.757A>G (p.Arg253Gly)
|
rs370967580
|
0.00003
|
NM_173660.5(DOK7):c.773-18C>T
|
rs749706359
|
0.00003
|
NM_173660.5(DOK7):c.828C>T (p.Ser276=)
|
rs772682276
|
0.00003
|
NM_173660.5(DOK7):c.857A>G (p.Glu286Gly)
|
rs754105518
|
0.00003
|
NM_173660.5(DOK7):c.864C>G (p.Ser288=)
|
rs554816775
|
0.00003
|
NM_173660.5(DOK7):c.94G>A (p.Val32Met)
|
rs1417673287
|
0.00003
|
NM_173660.5(DOK7):c.983A>C (p.Gln328Pro)
|
rs752168445
|
0.00003
|
NM_173660.5(DOK7):c.994C>T (p.Arg332Cys)
|
rs200394790
|
0.00003
|
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys)
|
rs143626559
|
0.00002
|
NM_000426.4(LAMA2):c.250C>T (p.Arg84Ter)
|
rs868019991
|
0.00002
|
NM_000426.4(LAMA2):c.283+1G>A
|
rs200288072
|
0.00002
|
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs)
|
rs886041297
|
0.00002
|
NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=)
|
rs371376404
|
0.00002
|
NM_000426.4(LAMA2):c.4176+1G>A
|
rs1404492484
|
0.00002
|
NM_000426.4(LAMA2):c.4188G>A (p.Pro1396=)
|
rs369076029
|
0.00002
|
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)
|
rs369776766
|
0.00002
|
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)
|
rs758775001
|
0.00002
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
NM_000426.4(LAMA2):c.5593C>T (p.Pro1865Ser)
|
rs563638833
|
0.00002
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
NM_000426.4(LAMA2):c.6786G>A (p.Ser2262=)
|
rs398123382
|
0.00002
|
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile)
|
rs199814707
|
0.00002
|
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs)
|
rs749566145
|
0.00002
|
NM_000426.4(LAMA2):c.7630A>G (p.Ile2544Val)
|
rs147430700
|
0.00002
|
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs)
|
rs1293303410
|
0.00002
|
NM_000426.4(LAMA2):c.848T>C (p.Val283Ala)
|
rs376917587
|
0.00002
|
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val)
|
rs75048006
|
0.00002
|
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp)
|
rs1057518970
|
0.00002
|
NM_001077365.2(POMT1):c.*64T>A
|
rs892418533
|
0.00002
|
NM_001077365.2(POMT1):c.*693C>T
|
rs886063541
|
0.00002
|
NM_001077365.2(POMT1):c.1109C>T (p.Pro370Leu)
|
rs376258733
|
0.00002
|
NM_001077365.2(POMT1):c.1127G>A (p.Gly376Glu)
|
rs761293717
|
0.00002
|
NM_001077365.2(POMT1):c.1176-17C>T
|
rs748114656
|
0.00002
|
NM_001077365.2(POMT1):c.1196del (p.Leu399fs)
|
rs768144522
|
0.00002
|
NM_001077365.2(POMT1):c.123-20G>T
|
rs746071589
|
0.00002
|
NM_001077365.2(POMT1):c.1272+17C>T
|
rs544783137
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys)
|
rs752384050
|
0.00002
|
NM_001077365.2(POMT1):c.141T>C (p.Tyr47=)
|
rs752941420
|
0.00002
|
NM_001077365.2(POMT1):c.1432C>T (p.Arg478Trp)
|
rs763756593
|
0.00002
|
NM_001077365.2(POMT1):c.1510C>T (p.Arg504Trp)
|
rs151183697
|
0.00002
|
NM_001077365.2(POMT1):c.1627T>C (p.Tyr543His)
|
rs1192384406
|
0.00002
|
NM_001077365.2(POMT1):c.1698+1G>A
|
rs763586263
|
0.00002
|
NM_001077365.2(POMT1):c.1698+6C>T
|
rs180847856
|
0.00002
|
NM_001077365.2(POMT1):c.1699-19A>G
|
rs761855332
|
0.00002
|
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val)
|
rs749978093
|
0.00002
|
NM_001077365.2(POMT1):c.1739C>T (p.Ser580Leu)
|
rs755804404
|
0.00002
|
NM_001077365.2(POMT1):c.1763A>G (p.Tyr588Cys)
|
rs772131719
|
0.00002
|
NM_001077365.2(POMT1):c.1826-16G>A
|
rs781195768
|
0.00002
|
NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr)
|
rs773190071
|
0.00002
|
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)
|
rs119462983
|
0.00002
|
NM_001077365.2(POMT1):c.2027T>C (p.Phe676Ser)
|
rs1201402718
|
0.00002
|
NM_001077365.2(POMT1):c.2064C>T (p.Cys688=)
|
rs1335756801
|
0.00002
|
NM_001077365.2(POMT1):c.2084G>A (p.Arg695His)
|
rs373402995
|
0.00002
|
NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg)
|
rs912556508
|
0.00002
|
NM_001077365.2(POMT1):c.2114C>T (p.Ser705Leu)
|
rs747343582
|
0.00002
|
NM_001077365.2(POMT1):c.247G>A (p.Asp83Asn)
|
rs530211718
|
0.00002
|
NM_001077365.2(POMT1):c.36G>A (p.Thr12=)
|
rs201262353
|
0.00002
|
NM_001077365.2(POMT1):c.401T>C (p.Met134Thr)
|
rs780170650
|
0.00002
|
NM_001077365.2(POMT1):c.408T>G (p.Ala136=)
|
rs748757994
|
0.00002
|
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)
|
rs746696167
|
0.00002
|
NM_001077365.2(POMT1):c.559T>C (p.Trp187Arg)
|
rs919881583
|
0.00002
|
NM_001077365.2(POMT1):c.640G>A (p.Val214Met)
|
rs778740383
|
0.00002
|
NM_001077365.2(POMT1):c.699+14T>A
|
rs370038491
|
0.00002
|
NM_001077365.2(POMT1):c.699+27G>A
|
rs374516244
|
0.00002
|
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn)
|
rs754611085
|
0.00002
|
NM_001079802.2(FKTN):c.*2464G>A
|
rs1054760144
|
0.00002
|
NM_001079802.2(FKTN):c.*3352C>A
|
rs143805719
|
0.00002
|
NM_001079802.2(FKTN):c.-39G>A
|
rs1284252327
|
0.00002
|
NM_001079802.2(FKTN):c.1046T>C (p.Val349Ala)
|
rs539089647
|
0.00002
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
NM_001079802.2(FKTN):c.1230T>C (p.His410=)
|
rs189927779
|
0.00002
|
NM_001079802.2(FKTN):c.1312C>T (p.Arg438Cys)
|
rs150852885
|
0.00002
|
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser)
|
rs1429464723
|
0.00002
|
NM_001079802.2(FKTN):c.1333C>G (p.Pro445Ala)
|
rs781465422
|
0.00002
|
NM_001079802.2(FKTN):c.14A>G (p.Asn5Ser)
|
rs751473818
|
0.00002
|
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr)
|
rs772840681
|
0.00002
|
NM_001079802.2(FKTN):c.30G>A (p.Leu10=)
|
rs202047149
|
0.00002
|
NM_001079802.2(FKTN):c.342A>G (p.Ala114=)
|
rs368598407
|
0.00002
|
NM_001079802.2(FKTN):c.575A>G (p.Lys192Arg)
|
rs763737649
|
0.00002
|
NM_001079802.2(FKTN):c.63G>C (p.Leu21=)
|
rs766642997
|
0.00002
|
NM_001079802.2(FKTN):c.733T>A (p.Ser245Thr)
|
rs776945221
|
0.00002
|
NM_001079802.2(FKTN):c.787C>G (p.Leu263Val)
|
rs770440134
|
0.00002
|
NM_001079802.2(FKTN):c.911-17T>A
|
rs201625324
|
0.00002
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
NM_001101426.4(CRPPA):c.1120-19T>A
|
rs773390529
|
0.00002
|
NM_001101426.4(CRPPA):c.161G>T (p.Gly54Val)
|
rs587777797
|
0.00002
|
NM_001101426.4(CRPPA):c.171G>A (p.Gly57=)
|
rs1032859096
|
0.00002
|
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr)
|
rs1292380177
|
0.00002
|
NM_001101426.4(CRPPA):c.402A>G (p.Leu134=)
|
rs368815582
|
0.00002
|
NM_001101426.4(CRPPA):c.52C>T (p.Leu18=)
|
rs886043287
|
0.00002
|
NM_001101426.4(CRPPA):c.594C>T (p.Cys198=)
|
rs756333932
|
0.00002
|
NM_001101426.4(CRPPA):c.661G>A (p.Val221Met)
|
rs749732549
|
0.00002
|
NM_001101426.4(CRPPA):c.789+13A>C
|
rs773343225
|
0.00002
|
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=)
|
rs766874330
|
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_002206.3(ITGA7):c.104A>G (p.Asn35Ser)
|
rs765097884
|
0.00002
|
NM_002206.3(ITGA7):c.1071G>A (p.Val357=)
|
rs776709976
|
0.00002
|
NM_002206.3(ITGA7):c.1072dup (p.Tyr358fs)
|
rs750756707
|
0.00002
|
NM_002206.3(ITGA7):c.1156G>A (p.Ala386Thr)
|
rs776050440
|
0.00002
|
NM_002206.3(ITGA7):c.1191A>T (p.Pro397=)
|
rs374034223
|
0.00002
|
NM_002206.3(ITGA7):c.1259G>T (p.Gly420Val)
|
rs1873029562
|
0.00002
|
NM_002206.3(ITGA7):c.1304G>C (p.Gly435Ala)
|
rs567048373
|
0.00002
|
NM_002206.3(ITGA7):c.1360T>G (p.Tyr454Asp)
|
rs754388088
|
0.00002
|
NM_002206.3(ITGA7):c.1387G>A (p.Ala463Thr)
|
rs150443803
|
0.00002
|
NM_002206.3(ITGA7):c.1409+9C>T
|
rs758349561
|
0.00002
|
NM_002206.3(ITGA7):c.1410-7A>G
|
rs760699968
|
0.00002
|
NM_002206.3(ITGA7):c.1506-5C>T
|
rs201774458
|
0.00002
|
NM_002206.3(ITGA7):c.1579G>C (p.Val527Leu)
|
rs748602754
|
0.00002
|
NM_002206.3(ITGA7):c.1673C>T (p.Ser558Leu)
|
rs548594784
|
0.00002
|
NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter)
|
rs201217202
|
0.00002
|
NM_002206.3(ITGA7):c.179G>A (p.Arg60Gln)
|
rs750920890
|
0.00002
|
NM_002206.3(ITGA7):c.1879C>T (p.Arg627Trp)
|
rs760006172
|
0.00002
|
NM_002206.3(ITGA7):c.1982C>T (p.Thr661Met)
|
rs749679578
|
0.00002
|
NM_002206.3(ITGA7):c.1994C>T (p.Pro665Leu)
|
rs544984385
|
0.00002
|
NM_002206.3(ITGA7):c.2195C>T (p.Ala732Val)
|
rs368879643
|
0.00002
|
NM_002206.3(ITGA7):c.2270G>A (p.Gly757Asp)
|
rs968147262
|
0.00002
|
NM_002206.3(ITGA7):c.2357+11C>T
|
rs769994283
|
0.00002
|
NM_002206.3(ITGA7):c.2452C>T (p.Leu818Phe)
|
rs137872276
|
0.00002
|
NM_002206.3(ITGA7):c.2635A>G (p.Met879Val)
|
rs755837295
|
0.00002
|
NM_002206.3(ITGA7):c.2643T>G (p.Val881=)
|
rs912015320
|
0.00002
|
NM_002206.3(ITGA7):c.2690C>T (p.Pro897Leu)
|
rs1305196493
|
0.00002
|
NM_002206.3(ITGA7):c.2722A>G (p.Ser908Gly)
|
rs771994045
|
0.00002
|
NM_002206.3(ITGA7):c.2740C>T (p.Arg914Trp)
|
rs754109651
|
0.00002
|
NM_002206.3(ITGA7):c.2814C>T (p.Ser938=)
|
rs944546606
|
0.00002
|
NM_002206.3(ITGA7):c.2850C>T (p.Cys950=)
|
rs374984482
|
0.00002
|
NM_002206.3(ITGA7):c.2855G>A (p.Arg952Gln)
|
rs753351732
|
0.00002
|
NM_002206.3(ITGA7):c.2893T>C (p.Tyr965His)
|
rs371338576
|
0.00002
|
NM_002206.3(ITGA7):c.2910G>A (p.Ala970=)
|
rs747407695
|
0.00002
|
NM_002206.3(ITGA7):c.3041G>A (p.Arg1014Gln)
|
rs779843497
|
0.00002
|
NM_002206.3(ITGA7):c.3057+15T>C
|
rs761881364
|
0.00002
|
NM_002206.3(ITGA7):c.3222C>T (p.Thr1074=)
|
rs768717588
|
0.00002
|
NM_002206.3(ITGA7):c.3254G>A (p.Arg1085Gln)
|
rs757690460
|
0.00002
|
NM_002206.3(ITGA7):c.3321C>A (p.Pro1107=)
|
rs543528251
|
0.00002
|
NM_002206.3(ITGA7):c.3335C>T (p.Pro1112Leu)
|
rs146183145
|
0.00002
|
NM_002206.3(ITGA7):c.3364G>A (p.Gly1122Arg)
|
rs750258372
|
0.00002
|
NM_002206.3(ITGA7):c.445C>T (p.Arg149Ter)
|
rs757680080
|
0.00002
|
NM_002206.3(ITGA7):c.507C>T (p.Asp169=)
|
rs747196893
|
0.00002
|
NM_002206.3(ITGA7):c.518G>A (p.Arg173Gln)
|
rs144639829
|
0.00002
|
NM_002206.3(ITGA7):c.530A>G (p.Asp177Gly)
|
rs1299893092
|
0.00002
|
NM_002206.3(ITGA7):c.564C>T (p.Pro188=)
|
rs763955304
|
0.00002
|
NM_002206.3(ITGA7):c.571C>T (p.His191Tyr)
|
rs984817118
|
0.00002
|
NM_002206.3(ITGA7):c.5C>T (p.Ala2Val)
|
rs867336411
|
0.00002
|
NM_002206.3(ITGA7):c.791-10C>A
|
rs766782086
|
0.00002
|
NM_002206.3(ITGA7):c.911G>A (p.Arg304His)
|
rs768455364
|
0.00002
|
NM_002206.3(ITGA7):c.922G>A (p.Glu308Lys)
|
rs746101495
|
0.00002
|
NM_003863.4(DPM2):c.3+6A>G
|
rs776375979
|
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.7490T>C (p.Ile2497Thr)
|
rs1228621705
|
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_004393.6(DAG1):c.1111C>T (p.Arg371Trp)
|
rs62261248
|
0.00002
|
NM_004393.6(DAG1):c.1186A>G (p.Thr396Ala)
|
rs779846682
|
0.00002
|
NM_004393.6(DAG1):c.1210A>G (p.Thr404Ala)
|
rs769229834
|
0.00002
|
NM_004393.6(DAG1):c.1278G>A (p.Lys426=)
|
rs766093420
|
0.00002
|
NM_004393.6(DAG1):c.1369C>T (p.Arg457Trp)
|
rs544574838
|
0.00002
|
NM_004393.6(DAG1):c.1454G>A (p.Ser485Asn)
|
rs764859263
|
0.00002
|
NM_004393.6(DAG1):c.1470C>T (p.Gly490=)
|
rs545248602
|
0.00002
|
NM_004393.6(DAG1):c.1535C>T (p.Thr512Ile)
|
rs527867946
|
0.00002
|
NM_004393.6(DAG1):c.1571A>G (p.Tyr524Cys)
|
rs767905225
|
0.00002
|
NM_004393.6(DAG1):c.1641C>T (p.Gly547=)
|
rs374490206
|
0.00002
|
NM_004393.6(DAG1):c.1847C>T (p.Pro616Leu)
|
rs200334256
|
0.00002
|
NM_004393.6(DAG1):c.193G>A (p.Val65Ile)
|
rs757379579
|
0.00002
|
NM_004393.6(DAG1):c.1965C>T (p.Ile655=)
|
rs763343344
|
0.00002
|
NM_004393.6(DAG1):c.2035C>T (p.Arg679Cys)
|
rs778608269
|
0.00002
|
NM_004393.6(DAG1):c.2083G>A (p.Ala695Thr)
|
rs764107385
|
0.00002
|
NM_004393.6(DAG1):c.2116A>G (p.Thr706Ala)
|
rs138386617
|
0.00002
|
NM_004393.6(DAG1):c.2193G>A (p.Ala731=)
|
rs1258744347
|
0.00002
|
NM_004393.6(DAG1):c.2196G>A (p.Pro732=)
|
rs773172058
|
0.00002
|
NM_004393.6(DAG1):c.2313C>T (p.Ala771=)
|
rs764289801
|
0.00002
|
NM_004393.6(DAG1):c.2431C>T (p.Pro811Ser)
|
rs368597067
|
0.00002
|
NM_004393.6(DAG1):c.2479C>T (p.Pro827Ser)
|
rs141562264
|
0.00002
|
NM_004393.6(DAG1):c.2648T>C (p.Met883Thr)
|
rs962242031
|
0.00002
|
NM_004393.6(DAG1):c.423C>T (p.Asn141=)
|
rs78718082
|
0.00002
|
NM_004393.6(DAG1):c.424G>A (p.Gly142Arg)
|
rs749962207
|
0.00002
|
NM_004393.6(DAG1):c.687G>A (p.Pro229=)
|
rs975103246
|
0.00002
|
NM_004393.6(DAG1):c.695A>G (p.Asn232Ser)
|
rs779274447
|
0.00002
|
NM_004393.6(DAG1):c.712A>G (p.Met238Val)
|
rs148238809
|
0.00002
|
NM_004393.6(DAG1):c.902A>G (p.Asn301Ser)
|
rs745559790
|
0.00002
|
NM_004393.6(DAG1):c.910C>T (p.Pro304Ser)
|
rs147149991
|
0.00002
|
NM_004393.6(DAG1):c.93G>T (p.Trp31Cys)
|
rs146339759
|
0.00002
|
NM_005198.5(CHKB):c.1082C>T (p.Ala361Val)
|
rs755801840
|
0.00002
|
NM_005198.5(CHKB):c.195G>A (p.Gln65=)
|
rs774840848
|
0.00002
|
NM_005198.5(CHKB):c.224+5G>C
|
rs765251030
|
0.00002
|
NM_005198.5(CHKB):c.262C>G (p.Pro88Ala)
|
rs547428711
|
0.00002
|
NM_005198.5(CHKB):c.333+17C>T
|
rs777753875
|
0.00002
|
NM_005198.5(CHKB):c.385C>T (p.Arg129Trp)
|
rs767938046
|
0.00002
|
NM_005198.5(CHKB):c.452G>A (p.Arg151Gln)
|
rs184839240
|
0.00002
|
NM_005198.5(CHKB):c.537G>A (p.Met179Ile)
|
rs1354225212
|
0.00002
|
NM_005198.5(CHKB):c.581+8A>T
|
rs1057523950
|
0.00002
|
NM_005198.5(CHKB):c.702G>A (p.Ser234=)
|
rs139952595
|
0.00002
|
NM_005198.5(CHKB):c.722A>G (p.Asn241Ser)
|
rs371751084
|
0.00002
|
NM_005198.5(CHKB):c.745T>C (p.Leu249=)
|
rs760310819
|
0.00002
|
NM_005198.5(CHKB):c.81G>A (p.Lys27=)
|
rs774227072
|
0.00002
|
NM_005198.5(CHKB):c.905A>T (p.Asp302Val)
|
rs775547378
|
0.00002
|
NM_005198.5(CHKB):c.928-4G>A
|
rs751093137
|
0.00002
|
NM_005198.5(CHKB):c.937A>G (p.Ile313Val)
|
rs757983603
|
0.00002
|
NM_006876.3(B4GAT1):c.1209G>A (p.Glu403=)
|
rs747107884
|
0.00002
|
NM_006876.3(B4GAT1):c.300C>T (p.His100=)
|
rs746274346
|
0.00002
|
NM_006876.3(B4GAT1):c.496G>A (p.Ala166Thr)
|
rs753511719
|
0.00002
|
NM_006876.3(B4GAT1):c.512G>C (p.Arg171Pro)
|
rs767498508
|
0.00002
|
NM_006876.3(B4GAT1):c.717C>A (p.Gly239=)
|
rs199653445
|
0.00002
|
NM_006876.3(B4GAT1):c.852G>A (p.Val284=)
|
rs1209507604
|
0.00002
|
NM_006876.3(B4GAT1):c.993A>G (p.Ala331=)
|
rs763537240
|
0.00002
|
NM_013382.7(POMT2):c.*1053A>G
|
rs886050817
|
0.00002
|
NM_013382.7(POMT2):c.1006+5G>A
|
rs587780422
|
0.00002
|
NM_013382.7(POMT2):c.1006C>T (p.His336Tyr)
|
rs765103940
|
0.00002
|
NM_013382.7(POMT2):c.1018G>A (p.Gly340Ser)
|
rs778014493
|
0.00002
|
NM_013382.7(POMT2):c.1029C>T (p.Ile343=)
|
rs758645178
|
0.00002
|
NM_013382.7(POMT2):c.1032T>C (p.Thr344=)
|
rs748370238
|
0.00002
|
NM_013382.7(POMT2):c.1046G>A (p.Arg349Gln)
|
rs756055923
|
0.00002
|
NM_013382.7(POMT2):c.1105C>T (p.Arg369Cys)
|
rs779190087
|
0.00002
|
NM_013382.7(POMT2):c.1192G>C (p.Asp398His)
|
rs145933402
|
0.00002
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
NM_013382.7(POMT2):c.1300C>T (p.Arg434Trp)
|
rs768256055
|
0.00002
|
NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln)
|
rs757110456
|
0.00002
|
NM_013382.7(POMT2):c.1620G>A (p.Glu540=)
|
rs886043258
|
0.00002
|
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp)
|
rs751153662
|
0.00002
|
NM_013382.7(POMT2):c.1653+5G>T
|
rs755390432
|
0.00002
|
NM_013382.7(POMT2):c.1654-8T>G
|
rs780532724
|
0.00002
|
NM_013382.7(POMT2):c.1711C>T (p.Pro571Ser)
|
rs771812476
|
0.00002
|
NM_013382.7(POMT2):c.1786-5C>G
|
rs369026034
|
0.00002
|
NM_013382.7(POMT2):c.1977G>C (p.Arg659=)
|
rs746640722
|
0.00002
|
NM_013382.7(POMT2):c.2148-6T>A
|
rs1242617887
|
0.00002
|
NM_013382.7(POMT2):c.248+5G>C
|
rs587777816
|
0.00002
|
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu)
|
rs398124264
|
0.00002
|
NM_013382.7(POMT2):c.512C>T (p.Ser171Leu)
|
rs750346960
|
0.00002
|
NM_013382.7(POMT2):c.548-17G>A
|
rs775177109
|
0.00002
|
NM_013382.7(POMT2):c.548-18C>T
|
rs762471841
|
0.00002
|
NM_013382.7(POMT2):c.672C>T (p.Pro224=)
|
rs147619625
|
0.00002
|
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg)
|
rs761773211
|
0.00002
|
NM_013382.7(POMT2):c.807T>G (p.Ser269Arg)
|
rs755782894
|
0.00002
|
NM_013382.7(POMT2):c.816+8C>T
|
rs187166139
|
0.00002
|
NM_013382.7(POMT2):c.856C>T (p.Leu286Phe)
|
rs375363915
|
0.00002
|
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)
|
rs587780423
|
0.00002
|
NM_013382.7(POMT2):c.886G>A (p.Ala296Thr)
|
rs762885008
|
0.00002
|
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys)
|
rs150736997
|
0.00002
|
NM_017739.4(POMGNT1):c.*500G>A
|
rs764840485
|
0.00002
|
NM_017739.4(POMGNT1):c.1011T>C (p.Ile337=)
|
rs777911698
|
0.00002
|
NM_017739.4(POMGNT1):c.1014C>T (p.Asp338=)
|
rs780555791
|
0.00002
|
NM_017739.4(POMGNT1):c.1027-5C>G
|
rs779435288
|
0.00002
|
NM_017739.4(POMGNT1):c.106C>T (p.Arg36Trp)
|
rs774633618
|
0.00002
|
NM_017739.4(POMGNT1):c.1077T>C (p.Thr359=)
|
rs886042244
|
0.00002
|
NM_017739.4(POMGNT1):c.1142A>G (p.Asn381Ser)
|
rs140846775
|
0.00002
|
NM_017739.4(POMGNT1):c.121-7C>T
|
rs376662637
|
0.00002
|
NM_017739.4(POMGNT1):c.1305G>A (p.Glu435=)
|
rs1272401946
|
0.00002
|
NM_017739.4(POMGNT1):c.130G>A (p.Val44Met)
|
rs764388322
|
0.00002
|
NM_017739.4(POMGNT1):c.1414-11A>C
|
rs772014671
|
0.00002
|
NM_017739.4(POMGNT1):c.1422T>C (p.Asp474=)
|
rs770989782
|
0.00002
|
NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln)
|
rs753030030
|
0.00002
|
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)
|
rs766382416
|
0.00002
|
NM_017739.4(POMGNT1):c.1530C>T (p.Gly510=)
|
rs1465862661
|
0.00002
|
NM_017739.4(POMGNT1):c.1533C>T (p.Tyr511=)
|
rs1434020595
|
0.00002
|
NM_017739.4(POMGNT1):c.1649+1G>A
|
rs752700398
|
0.00002
|
NM_017739.4(POMGNT1):c.185G>C (p.Arg62Pro)
|
rs779506923
|
0.00002
|
NM_017739.4(POMGNT1):c.286C>T (p.Arg96Trp)
|
rs770834730
|
0.00002
|
NM_017739.4(POMGNT1):c.300C>T (p.Asp100=)
|
rs748654101
|
0.00002
|
NM_017739.4(POMGNT1):c.421-5G>A
|
rs749131264
|
0.00002
|
NM_017739.4(POMGNT1):c.427G>A (p.Val143Met)
|
rs755885722
|
0.00002
|
NM_017739.4(POMGNT1):c.535-5C>T
|
rs975706637
|
0.00002
|
NM_017739.4(POMGNT1):c.584G>A (p.Ser195Asn)
|
rs917194053
|
0.00002
|
NM_017739.4(POMGNT1):c.614G>A (p.Gly205Asp)
|
rs1188660252
|
0.00002
|
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
NM_017739.4(POMGNT1):c.644G>A (p.Arg215Gln)
|
rs770634205
|
0.00002
|
NM_017739.4(POMGNT1):c.753G>T (p.Glu251Asp)
|
rs751316371
|
0.00002
|
NM_017739.4(POMGNT1):c.800G>A (p.Arg267His)
|
rs756234628
|
0.00002
|
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)
|
rs200863680
|
0.00002
|
NM_017739.4(POMGNT1):c.879+3G>A
|
rs1411537744
|
0.00002
|
NM_017739.4(POMGNT1):c.879+7G>A
|
rs768184440
|
0.00002
|
NM_017739.4(POMGNT1):c.879A>C (p.Pro293=)
|
rs776248221
|
0.00002
|
NM_017739.4(POMGNT1):c.900C>T (p.Leu300=)
|
rs778664130
|
0.00002
|
NM_017739.4(POMGNT1):c.910G>A (p.Val304Met)
|
rs765980130
|
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_021971.4(GMPPB):c.1016A>G (p.Asn339Ser)
|
rs753014812
|
0.00002
|
NM_021971.4(GMPPB):c.130-16G>T
|
rs201729050
|
0.00002
|
NM_021971.4(GMPPB):c.211-10T>G
|
rs539632278
|
0.00002
|
NM_021971.4(GMPPB):c.260-5C>T
|
rs762790429
|
0.00002
|
NM_021971.4(GMPPB):c.432C>T (p.Tyr144=)
|
rs779522830
|
0.00002
|
NM_021971.4(GMPPB):c.562-10A>G
|
rs769914373
|
0.00002
|
NM_021971.4(GMPPB):c.697C>T (p.Leu233=)
|
rs772099238
|
0.00002
|
NM_021971.4(GMPPB):c.727C>T (p.Arg243Trp)
|
rs771028755
|
0.00002
|
NM_021971.4(GMPPB):c.759C>T (p.Asn253=)
|
rs1032078654
|
0.00002
|
NM_021971.4(GMPPB):c.893G>A (p.Arg298His)
|
rs766498097
|
0.00002
|
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys)
|
rs371188899
|
0.00002
|
NM_021971.4(GMPPB):c.966C>T (p.Asn322=)
|
rs781114909
|
0.00002
|
NM_024301.5(FKRP):c.1008G>C (p.Ala336=)
|
rs748542420
|
0.00002
|
NM_024301.5(FKRP):c.111G>A (p.Arg37=)
|
rs746276490
|
0.00002
|
NM_024301.5(FKRP):c.1191G>A (p.Ala397=)
|
rs752767486
|
0.00002
|
NM_024301.5(FKRP):c.1224C>T (p.Ser408=)
|
rs779487099
|
0.00002
|
NM_024301.5(FKRP):c.1257C>T (p.Pro419=)
|
rs1335867192
|
0.00002
|
NM_024301.5(FKRP):c.1291A>G (p.Thr431Ala)
|
rs1060502112
|
0.00002
|
NM_024301.5(FKRP):c.1317G>A (p.Val439=)
|
rs757615255
|
0.00002
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
NM_024301.5(FKRP):c.187G>A (p.Val63Met)
|
rs955514933
|
0.00002
|
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)
|
rs770711331
|
0.00002
|
NM_024301.5(FKRP):c.344C>T (p.Ser115Leu)
|
rs752018916
|
0.00002
|
NM_024301.5(FKRP):c.434T>G (p.Val145Gly)
|
rs745681948
|
0.00002
|
NM_024301.5(FKRP):c.483C>T (p.Ala161=)
|
rs797045576
|
0.00002
|
NM_024301.5(FKRP):c.554C>T (p.Ala185Val)
|
rs1032563159
|
0.00002
|
NM_024301.5(FKRP):c.573C>T (p.Cys191=)
|
rs763156437
|
0.00002
|
NM_024301.5(FKRP):c.628C>G (p.Leu210Val)
|
rs778472624
|
0.00002
|
NM_024301.5(FKRP):c.725C>T (p.Ala242Val)
|
rs1298321836
|
0.00002
|
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)
|
rs1247934219
|
0.00002
|
NM_024301.5(FKRP):c.85C>T (p.His29Tyr)
|
rs886043192
|
0.00002
|
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala)
|
rs921829148
|
0.00002
|
NM_024301.5(FKRP):c.933G>A (p.Glu311=)
|
rs911700598
|
0.00002
|
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp)
|
rs1365712686
|
0.00002
|
NM_032237.5(POMK):c.170A>G (p.Tyr57Cys)
|
rs372826172
|
0.00002
|
NM_032237.5(POMK):c.457C>T (p.Pro153Ser)
|
rs140899970
|
0.00002
|
NM_032237.5(POMK):c.55C>T (p.Pro19Ser)
|
rs754284268
|
0.00002
|
NM_032237.5(POMK):c.66G>T (p.Gly22=)
|
rs778266586
|
0.00002
|
NM_032237.5(POMK):c.681C>T (p.Asp227=)
|
rs765987803
|
0.00002
|
NM_032237.5(POMK):c.687C>T (p.Asp229=)
|
rs751085294
|
0.00002
|
NM_032237.5(POMK):c.68T>C (p.Leu23Pro)
|
rs200277006
|
0.00002
|
NM_032237.5(POMK):c.807C>T (p.His269=)
|
rs754174652
|
0.00002
|
NM_032237.5(POMK):c.82G>T (p.Ala28Ser)
|
rs201506618
|
0.00002
|
NM_032237.5(POMK):c.905T>A (p.Val302Asp)
|
rs199756983
|
0.00002
|
NM_032237.5(POMK):c.908G>A (p.Arg303Gln)
|
rs370946940
|
0.00002
|
NM_032806.6(POMGNT2):c.1030A>G (p.Met344Val)
|
rs757138666
|
0.00002
|
NM_032806.6(POMGNT2):c.1122C>T (p.Tyr374=)
|
rs777746219
|
0.00002
|
NM_032806.6(POMGNT2):c.1124C>T (p.Thr375Ile)
|
rs762080004
|
0.00002
|
NM_032806.6(POMGNT2):c.1160A>C (p.Asp387Ala)
|
rs2089837275
|
0.00002
|
NM_032806.6(POMGNT2):c.1195G>A (p.Glu399Lys)
|
rs754794110
|
0.00002
|
NM_032806.6(POMGNT2):c.1232del (p.Gln411fs)
|
rs755487513
|
0.00002
|
NM_032806.6(POMGNT2):c.123G>A (p.Gln41=)
|
rs771662422
|
0.00002
|
NM_032806.6(POMGNT2):c.1285C>T (p.Arg429Cys)
|
rs1299816126
|
0.00002
|
NM_032806.6(POMGNT2):c.1296A>G (p.Pro432=)
|
rs373951159
|
0.00002
|
NM_032806.6(POMGNT2):c.1380C>T (p.Thr460=)
|
rs375414490
|
0.00002
|
NM_032806.6(POMGNT2):c.1434C>T (p.Val478=)
|
rs771980076
|
0.00002
|
NM_032806.6(POMGNT2):c.1507A>G (p.Thr503Ala)
|
rs750683375
|
0.00002
|
NM_032806.6(POMGNT2):c.1567G>A (p.Glu523Lys)
|
rs776146393
|
0.00002
|
NM_032806.6(POMGNT2):c.1603G>A (p.Val535Met)
|
rs376906501
|
0.00002
|
NM_032806.6(POMGNT2):c.1681C>T (p.Arg561Cys)
|
rs147477491
|
0.00002
|
NM_032806.6(POMGNT2):c.215G>A (p.Arg72His)
|
rs774060112
|
0.00002
|
NM_032806.6(POMGNT2):c.265G>A (p.Glu89Lys)
|
rs766108967
|
0.00002
|
NM_032806.6(POMGNT2):c.290A>T (p.His97Leu)
|
rs762349670
|
0.00002
|
NM_032806.6(POMGNT2):c.328C>T (p.Arg110Trp)
|
rs201938216
|
0.00002
|
NM_032806.6(POMGNT2):c.329G>A (p.Arg110Gln)
|
rs772319958
|
0.00002
|
NM_032806.6(POMGNT2):c.357A>G (p.Leu119=)
|
rs748074599
|
0.00002
|
NM_032806.6(POMGNT2):c.393C>T (p.Asn131=)
|
rs750111000
|
0.00002
|
NM_032806.6(POMGNT2):c.409G>T (p.Ala137Ser)
|
rs760916035
|
0.00002
|
NM_032806.6(POMGNT2):c.420G>A (p.Leu140=)
|
rs1176941282
|
0.00002
|
NM_032806.6(POMGNT2):c.429G>T (p.Met143Ile)
|
rs770987277
|
0.00002
|
NM_032806.6(POMGNT2):c.525C>T (p.Leu175=)
|
rs956081683
|
0.00002
|
NM_032806.6(POMGNT2):c.588C>T (p.Gly196=)
|
rs755425952
|
0.00002
|
NM_032806.6(POMGNT2):c.654A>G (p.Ala218=)
|
rs144519422
|
0.00002
|
NM_032806.6(POMGNT2):c.673C>T (p.Arg225Trp)
|
rs1209630896
|
0.00002
|
NM_032806.6(POMGNT2):c.705C>A (p.Gly235=)
|
rs760894012
|
0.00002
|
NM_032806.6(POMGNT2):c.734A>G (p.Tyr245Cys)
|
rs1001285393
|
0.00002
|
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu)
|
rs374042455
|
0.00002
|
NM_032806.6(POMGNT2):c.775G>A (p.Val259Ile)
|
rs577129212
|
0.00002
|
NM_032806.6(POMGNT2):c.806G>A (p.Arg269Gln)
|
rs752677359
|
0.00002
|
NM_032806.6(POMGNT2):c.850C>T (p.Leu284=)
|
rs776247217
|
0.00002
|
NM_032806.6(POMGNT2):c.852A>G (p.Leu284=)
|
rs1553618336
|
0.00002
|
NM_133642.5(LARGE1):c.107-8C>T
|
rs1006989010
|
0.00002
|
NM_133642.5(LARGE1):c.1132-3C>G
|
rs755662032
|
0.00002
|
NM_133642.5(LARGE1):c.1132-8C>T
|
rs748964975
|
0.00002
|
NM_133642.5(LARGE1):c.1241G>A (p.Arg414Gln)
|
rs200603479
|
0.00002
|
NM_133642.5(LARGE1):c.1287+12G>A
|
rs370541163
|
0.00002
|
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=)
|
rs772615481
|
0.00002
|
NM_133642.5(LARGE1):c.1340G>A (p.Arg447Gln)
|
rs139603473
|
0.00002
|
NM_133642.5(LARGE1):c.1544G>A (p.Arg515His)
|
rs368030516
|
0.00002
|
NM_133642.5(LARGE1):c.1785C>T (p.Pro595=)
|
rs751341620
|
0.00002
|
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys)
|
rs144045461
|
0.00002
|
NM_133642.5(LARGE1):c.1839G>T (p.Leu613Phe)
|
rs745392097
|
0.00002
|
NM_133642.5(LARGE1):c.1885G>A (p.Val629Ile)
|
rs547202997
|
0.00002
|
NM_133642.5(LARGE1):c.1965C>T (p.Ala655=)
|
rs368632863
|
0.00002
|
NM_133642.5(LARGE1):c.2070G>A (p.Val690=)
|
rs771631103
|
0.00002
|
NM_133642.5(LARGE1):c.2169C>T (p.Tyr723=)
|
rs1000835027
|
0.00002
|
NM_133642.5(LARGE1):c.2264A>G (p.Asn755Ser)
|
rs755283207
|
0.00002
|
NM_133642.5(LARGE1):c.408+7G>A
|
rs371246157
|
0.00002
|
NM_133642.5(LARGE1):c.424A>G (p.Ile142Val)
|
rs199906790
|
0.00002
|
NM_133642.5(LARGE1):c.45G>A (p.Ser15=)
|
rs752560976
|
0.00002
|
NM_133642.5(LARGE1):c.492-8C>T
|
rs764180554
|
0.00002
|
NM_133642.5(LARGE1):c.590A>C (p.Asp197Ala)
|
rs765069383
|
0.00002
|
NM_133642.5(LARGE1):c.606C>T (p.Asp202=)
|
rs759394642
|
0.00002
|
NM_133642.5(LARGE1):c.615+8C>T
|
rs587783731
|
0.00002
|
NM_152490.5(B3GALNT2):c.1040C>T (p.Thr347Met)
|
rs746993541
|
0.00002
|
NM_152490.5(B3GALNT2):c.1092A>G (p.Glu364=)
|
rs565049275
|
0.00002
|
NM_152490.5(B3GALNT2):c.134A>G (p.Gln45Arg)
|
rs760940955
|
0.00002
|
NM_152490.5(B3GALNT2):c.1445C>T (p.Thr482Met)
|
rs541697587
|
0.00002
|
NM_152490.5(B3GALNT2):c.249A>T (p.Thr83=)
|
rs770930732
|
0.00002
|
NM_152490.5(B3GALNT2):c.258A>G (p.Gln86=)
|
rs369467106
|
0.00002
|
NM_152490.5(B3GALNT2):c.362-12C>T
|
rs546633200
|
0.00002
|
NM_152490.5(B3GALNT2):c.427C>T (p.Arg143Ter)
|
rs762259872
|
0.00002
|
NM_152490.5(B3GALNT2):c.699T>C (p.Leu233=)
|
rs368068535
|
0.00002
|
NM_152490.5(B3GALNT2):c.762+8del
|
rs754890407
|
0.00002
|
NM_152490.5(B3GALNT2):c.897T>C (p.His299=)
|
rs781287494
|
0.00002
|
NM_153741.2(DPM3):c.179G>T (p.Arg60Leu)
|
rs773427971
|
0.00002
|
NM_170707.4(LMNA):c.-109G>T
|
rs886045360
|
0.00002
|
NM_170707.4(LMNA):c.-1C>A
|
rs886043355
|
0.00002
|
NM_170707.4(LMNA):c.-44T>A
|
rs1185731069
|
0.00002
|
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu)
|
rs61693978
|
0.00002
|
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)
|
rs373584456
|
0.00002
|
NM_170707.4(LMNA):c.1608+10C>T
|
rs748917147
|
0.00002
|
NM_170707.4(LMNA):c.1698+57G>A
|
rs557334569
|
0.00002
|
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)
|
rs59601651
|
0.00002
|
NM_170707.4(LMNA):c.1857T>C (p.Ser619=)
|
rs368581237
|
0.00002
|
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter)
|
rs267607544
|
0.00002
|
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)
|
rs1060502216
|
0.00002
|
NM_170707.4(LMNA):c.294G>A (p.Glu98=)
|
rs886045363
|
0.00002
|
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)
|
rs886045364
|
0.00002
|
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)
|
rs766856162
|
0.00002
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
0.00002
|
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys)
|
rs375987939
|
0.00002
|
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu)
|
rs745540806
|
0.00002
|
NM_170707.4(LMNA):c.986G>A (p.Arg329His)
|
rs397517913
|
0.00002
|
NM_173660.5(DOK7):c.101-16G>A
|
rs755933024
|
0.00002
|
NM_173660.5(DOK7):c.1059G>A (p.Ser353=)
|
rs781086422
|
0.00002
|
NM_173660.5(DOK7):c.1169C>T (p.Pro390Leu)
|
rs1418197383
|
0.00002
|
NM_173660.5(DOK7):c.1180G>A (p.Glu394Lys)
|
rs751691265
|
0.00002
|
NM_173660.5(DOK7):c.1197C>T (p.Thr399=)
|
rs756540534
|
0.00002
|
NM_173660.5(DOK7):c.1226G>A (p.Arg409His)
|
rs377528603
|
0.00002
|
NM_173660.5(DOK7):c.1244C>G (p.Pro415Arg)
|
rs142510199
|
0.00002
|
NM_173660.5(DOK7):c.1289C>T (p.Ala430Val)
|
rs745414274
|
0.00002
|
NM_173660.5(DOK7):c.1314G>A (p.Thr438=)
|
rs371276345
|
0.00002
|
NM_173660.5(DOK7):c.1417G>A (p.Glu473Lys)
|
rs1359635065
|
0.00002
|
NM_173660.5(DOK7):c.1447G>T (p.Gly483Trp)
|
rs915179362
|
0.00002
|
NM_173660.5(DOK7):c.1458G>A (p.Pro486=)
|
rs763843300
|
0.00002
|
NM_173660.5(DOK7):c.1506C>T (p.Pro502=)
|
rs753827494
|
0.00002
|
NM_173660.5(DOK7):c.321G>A (p.Ala107=)
|
rs769702844
|
0.00002
|
NM_173660.5(DOK7):c.326G>A (p.Gly109Asp)
|
rs1319317420
|
0.00002
|
NM_173660.5(DOK7):c.453G>A (p.Gln151=)
|
rs764598148
|
0.00002
|
NM_173660.5(DOK7):c.54+31_54+32insT
|
rs1245236150
|
0.00002
|
NM_173660.5(DOK7):c.55-10G>A
|
rs886043943
|
0.00002
|
NM_173660.5(DOK7):c.55-19C>T
|
rs1316334613
|
0.00002
|
NM_173660.5(DOK7):c.557C>T (p.Ser186Leu)
|
rs772577244
|
0.00002
|
NM_173660.5(DOK7):c.623G>T (p.Gly208Val)
|
rs572714394
|
0.00002
|
NM_173660.5(DOK7):c.65G>A (p.Arg22Lys)
|
rs756962738
|
0.00002
|
NM_173660.5(DOK7):c.689G>A (p.Arg230His)
|
rs760941977
|
0.00002
|
NM_173660.5(DOK7):c.773-2_773-1del
|
rs770163440
|
0.00002
|
NM_173660.5(DOK7):c.847G>A (p.Ala283Thr)
|
rs139429423
|
0.00002
|
NM_173660.5(DOK7):c.86C>T (p.Pro29Leu)
|
rs1478257270
|
0.00002
|
NM_173660.5(DOK7):c.914A>G (p.Gln305Arg)
|
rs747816956
|
0.00002
|
NM_173660.5(DOK7):c.97G>T (p.Ala33Ser)
|
rs1425852835
|
0.00002
|
NM_000426.4(LAMA2):c.112+1G>A
|
rs398123367
|
0.00001
|
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)
|
rs773209126
|
0.00001
|
NM_000426.4(LAMA2):c.1364G>A (p.Arg455Gln)
|
rs201177178
|
0.00001
|
NM_000426.4(LAMA2):c.1782+2dup
|
rs1272011145
|
0.00001
|
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)
|
rs202247791
|
0.00001
|
NM_000426.4(LAMA2):c.2037G>C (p.Ala679=)
|
rs398123369
|
0.00001
|
NM_000426.4(LAMA2):c.2089A>G (p.Ile697Val)
|
rs778059153
|
0.00001
|
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg)
|
rs920771326
|
0.00001
|
NM_000426.4(LAMA2):c.2322+1G>C
|
rs945091158
|
0.00001
|
NM_000426.4(LAMA2):c.2323-1G>T
|
rs1278823424
|
0.00001
|
NM_000426.4(LAMA2):c.2375T>C (p.Phe792Ser)
|
rs398123370
|
0.00001
|
NM_000426.4(LAMA2):c.2451-1del
|
rs767784355
|
0.00001
|
NM_000426.4(LAMA2):c.2451-6A>G
|
rs896691971
|
0.00001
|
NM_000426.4(LAMA2):c.2749+1G>C
|
rs759555791
|
0.00001
|
NM_000426.4(LAMA2):c.2749+2dup
|
rs759144210
|
0.00001
|
NM_000426.4(LAMA2):c.2836C>T (p.Gln946Ter)
|
rs375638381
|
0.00001
|
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)
|
rs121913577
|
0.00001
|
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr)
|
rs374403765
|
0.00001
|
NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter)
|
rs752094219
|
0.00001
|
NM_000426.4(LAMA2):c.307A>G (p.Ile103Val)
|
rs369978622
|
0.00001
|
NM_000426.4(LAMA2):c.3110T>C (p.Ile1037Thr)
|
rs797045679
|
0.00001
|
NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter)
|
rs1441933780
|
0.00001
|
NM_000426.4(LAMA2):c.3444C>A (p.Cys1148Ter)
|
rs1383756739
|
0.00001
|
NM_000426.4(LAMA2):c.3508G>A (p.Gly1170Ser)
|
rs747246881
|
0.00001
|
NM_000426.4(LAMA2):c.3556-13T>A
|
rs775278003
|
0.00001
|
NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter)
|
rs535635043
|
0.00001
|
NM_000426.4(LAMA2):c.3736-2A>T
|
rs372715292
|
0.00001
|
NM_000426.4(LAMA2):c.3803C>T (p.Ser1268Phe)
|
rs776042035
|
0.00001
|
NM_000426.4(LAMA2):c.3861C>T (p.Ile1287=)
|
rs138702650
|
0.00001
|
NM_000426.4(LAMA2):c.396+1G>T
|
rs770617208
|
0.00001
|
NM_000426.4(LAMA2):c.4107_4109del (p.Met1370del)
|
rs1446213044
|
0.00001
|
NM_000426.4(LAMA2):c.4280del (p.Ser1427fs)
|
rs1433071073
|
0.00001
|
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)
|
rs200923373
|
0.00001
|
NM_000426.4(LAMA2):c.443G>A (p.Arg148Gln)
|
rs148103319
|
0.00001
|
NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met)
|
rs778106503
|
0.00001
|
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter)
|
rs121913575
|
0.00001
|
NM_000426.4(LAMA2):c.4699G>A (p.Glu1567Lys)
|
rs371388948
|
0.00001
|
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter)
|
rs762342110
|
0.00001
|
NM_000426.4(LAMA2):c.5072-3C>A
|
rs759155854
|
0.00001
|
NM_000426.4(LAMA2):c.5234+1G>A
|
rs781376927
|
0.00001
|
NM_000426.4(LAMA2):c.5285G>A (p.Arg1762Gln)
|
rs138296015
|
0.00001
|
NM_000426.4(LAMA2):c.5602G>T (p.Glu1868Ter)
|
rs1276300668
|
0.00001
|
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs)
|
rs398123377
|
0.00001
|
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)
|
rs398123378
|
0.00001
|
NM_000426.4(LAMA2):c.5938G>A (p.Glu1980Lys)
|
rs769574222
|
0.00001
|
NM_000426.4(LAMA2):c.6269-820A>G
|
rs544696321
|
0.00001
|
NM_000426.4(LAMA2):c.6269-855A>T
|
rs1554297879
|
0.00001
|
NM_000426.4(LAMA2):c.6269-856C>G
|
rs763589558
|
0.00001
|
NM_000426.4(LAMA2):c.6520G>A (p.Val2174Ile)
|
rs566853691
|
0.00001
|
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His)
|
rs779326725
|
0.00001
|
NM_000426.4(LAMA2):c.6624G>C (p.Trp2208Cys)
|
rs1294289973
|
0.00001
|
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)
|
rs398123383
|
0.00001
|
NM_000426.4(LAMA2):c.6993-2A>C
|
rs200669208
|
0.00001
|
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)
|
rs762806915
|
0.00001
|
NM_000426.4(LAMA2):c.716G>A (p.Arg239His)
|
rs776777494
|
0.00001
|
NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter)
|
rs776104105
|
0.00001
|
NM_000426.4(LAMA2):c.7369A>C (p.Asn2457His)
|
rs797045680
|
0.00001
|
NM_000426.4(LAMA2):c.7526T>A (p.Leu2509His)
|
rs578183193
|
0.00001
|
NM_000426.4(LAMA2):c.7553C>A (p.Thr2518Asn)
|
rs1313279253
|
0.00001
|
NM_000426.4(LAMA2):c.7572+1G>A
|
rs1554305006
|
0.00001
|
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro)
|
rs121913570
|
0.00001
|
NM_000426.4(LAMA2):c.7898+12A>G
|
rs572960610
|
0.00001
|
NM_000426.4(LAMA2):c.8244+1G>A
|
rs749522728
|
0.00001
|
NM_000426.4(LAMA2):c.8398G>A (p.Gly2800Ser)
|
rs758491978
|
0.00001
|
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter)
|
rs1463264889
|
0.00001
|
NM_000426.4(LAMA2):c.9217C>T (p.Leu3073Phe)
|
rs1315125567
|
0.00001
|
NM_000426.4(LAMA2):c.9295A>T (p.Lys3099Ter)
|
rs749797580
|
0.00001
|
NM_001077365.2(POMT1):c.1014C>T (p.His338=)
|
rs886043203
|
0.00001
|
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)
|
rs756973046
|
0.00001
|
NM_001077365.2(POMT1):c.1036C>T (p.Pro346Ser)
|
rs1353274622
|
0.00001
|
NM_001077365.2(POMT1):c.1063A>G (p.Ile355Val)
|
rs749853448
|
0.00001
|
NM_001077365.2(POMT1):c.1068A>G (p.Val356=)
|
rs1280401262
|
0.00001
|
NM_001077365.2(POMT1):c.1074T>A (p.Asp358Glu)
|
rs765263668
|
0.00001
|
NM_001077365.2(POMT1):c.1082+19A>G
|
rs1454823245
|
0.00001
|
NM_001077365.2(POMT1):c.1101C>T (p.Ser367=)
|
rs771523115
|
0.00001
|
NM_001077365.2(POMT1):c.1129G>A (p.Asp377Asn)
|
rs886044066
|
0.00001
|
NM_001077365.2(POMT1):c.1166C>T (p.Ser389Phe)
|
rs201587241
|
0.00001
|
NM_001077365.2(POMT1):c.1167C>T (p.Ser389=)
|
rs1210555820
|
0.00001
|
NM_001077365.2(POMT1):c.1175+1G>A
|
rs1051679985
|
0.00001
|
NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met)
|
rs397515400
|
0.00001
|
NM_001077365.2(POMT1):c.1176-2A>G
|
rs746523421
|
0.00001
|
NM_001077365.2(POMT1):c.1193C>T (p.Pro398Leu)
|
rs776388419
|
0.00001
|
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)
|
rs1564364615
|
0.00001
|
NM_001077365.2(POMT1):c.1199G>C (p.Ser400Thr)
|
rs149575164
|
0.00001
|
NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter)
|
rs745509085
|
0.00001
|
NM_001077365.2(POMT1):c.1281G>A (p.Val427=)
|
rs139720304
|
0.00001
|
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys)
|
rs1397478363
|
0.00001
|
NM_001077365.2(POMT1):c.1331G>A (p.Arg444His)
|
rs758736387
|
0.00001
|
NM_001077365.2(POMT1):c.1341C>T (p.His447=)
|
rs200731790
|
0.00001
|
NM_001077365.2(POMT1):c.1353C>A (p.Ser451=)
|
rs144385159
|
0.00001
|
NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr)
|
rs150702948
|
0.00001
|
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile)
|
rs1008021925
|
0.00001
|
NM_001077365.2(POMT1):c.1371C>T (p.Ser457=)
|
rs746412899
|
0.00001
|
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)
|
rs746849558
|
0.00001
|
NM_001077365.2(POMT1):c.1414G>A (p.Val472Ile)
|
rs943420374
|
0.00001
|
NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln)
|
rs1386572159
|
0.00001
|
NM_001077365.2(POMT1):c.1443C>T (p.His481=)
|
rs139415150
|
0.00001
|
NM_001077365.2(POMT1):c.1452G>A (p.Thr484=)
|
rs145164375
|
0.00001
|
NM_001077365.2(POMT1):c.1462G>A (p.Val488Met)
|
rs748365119
|
0.00001
|
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)
|
rs119462985
|
0.00001
|
NM_001077365.2(POMT1):c.1480G>A (p.Gly494Ser)
|
rs200204923
|
0.00001
|
NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val)
|
rs761439623
|
0.00001
|
NM_001077365.2(POMT1):c.1486+11G>A
|
rs755682718
|
0.00001
|
NM_001077365.2(POMT1):c.1490_1498del (p.Gln497_Gln499del)
|
rs763262424
|
0.00001
|
NM_001077365.2(POMT1):c.1505G>A (p.Arg502Gln)
|
rs1174599967
|
0.00001
|
NM_001077365.2(POMT1):c.1528G>A (p.Ala510Thr)
|
rs1276417965
|
0.00001
|
NM_001077365.2(POMT1):c.1548G>C (p.Arg516Ser)
|
rs1471379936
|
0.00001
|
NM_001077365.2(POMT1):c.1574C>T (p.Ser525Leu)
|
rs1018748368
|
0.00001
|
NM_001077365.2(POMT1):c.1575G>A (p.Ser525=)
|
rs753468585
|
0.00001
|
NM_001077365.2(POMT1):c.1584+9C>T
|
rs1219705170
|
0.00001
|
NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu)
|
rs754907726
|
0.00001
|
NM_001077365.2(POMT1):c.1617G>A (p.Ser539=)
|
rs778687698
|
0.00001
|
NM_001077365.2(POMT1):c.1668T>C (p.Asn556=)
|
rs1445855043
|
0.00001
|
NM_001077365.2(POMT1):c.1758C>T (p.Ala586=)
|
rs373374873
|
0.00001
|
NM_001077365.2(POMT1):c.1764C>T (p.Tyr588=)
|
rs773343894
|
0.00001
|
NM_001077365.2(POMT1):c.1765G>A (p.Ala589Thr)
|
rs747138675
|
0.00001
|
NM_001077365.2(POMT1):c.1773G>A (p.Leu591=)
|
rs762810201
|
0.00001
|
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)
|
rs761848742
|
0.00001
|
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln)
|
rs367709136
|
0.00001
|
NM_001077365.2(POMT1):c.1825+6T>C
|
rs1366898427
|
0.00001
|
NM_001077365.2(POMT1):c.1837C>T (p.Arg613Cys)
|
rs759135168
|
0.00001
|
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser)
|
rs756303645
|
0.00001
|
NM_001077365.2(POMT1):c.1893G>A (p.Pro631=)
|
rs749582742
|
0.00001
|
NM_001077365.2(POMT1):c.1938C>T (p.Pro646=)
|
rs1481940320
|
0.00001
|
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)
|
rs119462987
|
0.00001
|
NM_001077365.2(POMT1):c.1989C>T (p.Ser663=)
|
rs764451132
|
0.00001
|
NM_001077365.2(POMT1):c.1995C>T (p.His665=)
|
rs768108650
|
0.00001
|
NM_001077365.2(POMT1):c.2003+4C>T
|
rs766635497
|
0.00001
|
NM_001077365.2(POMT1):c.2004-19G>A
|
rs757031997
|
0.00001
|
NM_001077365.2(POMT1):c.2058C>T (p.Ser686=)
|
rs886043948
|
0.00001
|
NM_001077365.2(POMT1):c.2068G>A (p.Val690Met)
|
rs150209587
|
0.00001
|
NM_001077365.2(POMT1):c.2078C>T (p.Thr693Met)
|
rs767241035
|
0.00001
|
NM_001077365.2(POMT1):c.2079G>A (p.Thr693=)
|
rs200603905
|
0.00001
|
NM_001077365.2(POMT1):c.2096A>G (p.Tyr699Cys)
|
rs754444374
|
0.00001
|
NM_001077365.2(POMT1):c.2123A>T (p.Glu708Val)
|
rs975505270
|
0.00001
|
NM_001077365.2(POMT1):c.280+1G>T
|
rs746823238
|
0.00001
|
NM_001077365.2(POMT1):c.301G>C (p.Val101Leu)
|
rs199552424
|
0.00001
|
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys)
|
rs1289335417
|
0.00001
|
NM_001077365.2(POMT1):c.345G>A (p.Ser115=)
|
rs147212285
|
0.00001
|
NM_001077365.2(POMT1):c.426C>T (p.Ile142=)
|
rs771390000
|
0.00001
|
NM_001077365.2(POMT1):c.427+11C>T
|
rs765291250
|
0.00001
|
NM_001077365.2(POMT1):c.427+8C>T
|
rs201727519
|
0.00001
|
NM_001077365.2(POMT1):c.499G>A (p.Val167Met)
|
rs757875244
|
0.00001
|
NM_001077365.2(POMT1):c.516G>T (p.Lys172Asn)
|
rs1439661209
|
0.00001
|
NM_001077365.2(POMT1):c.52A>C (p.Ser18Arg)
|
rs779386306
|
0.00001
|
NM_001077365.2(POMT1):c.539+13G>T
|
rs749842555
|
0.00001
|
NM_001077365.2(POMT1):c.539+3A>G
|
rs780457748
|
0.00001
|
NM_001077365.2(POMT1):c.572C>T (p.Thr191Ile)
|
rs1344992449
|
0.00001
|
NM_001077365.2(POMT1):c.585C>T (p.Val195=)
|
rs764110407
|
0.00001
|
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)
|
rs119462982
|
0.00001
|
NM_001077365.2(POMT1):c.605+1G>T
|
rs766648827
|
0.00001
|
NM_001077365.2(POMT1):c.606-9T>C
|
rs760178838
|
0.00001
|
NM_001077365.2(POMT1):c.614A>G (p.Tyr205Cys)
|
rs1312643563
|
0.00001
|
NM_001077365.2(POMT1):c.639C>T (p.Leu213=)
|
rs267602149
|
0.00001
|
NM_001077365.2(POMT1):c.650T>G (p.Val217Gly)
|
rs1364769689
|
0.00001
|
NM_001077365.2(POMT1):c.697_699del (p.Asn233del)
|
rs761863400
|
0.00001
|
NM_001077365.2(POMT1):c.699+32C>T
|
rs201225383
|
0.00001
|
NM_001077365.2(POMT1):c.699+33G>A
|
rs750646014
|
0.00001
|
NM_001077365.2(POMT1):c.699+62del
|
rs1356791510
|
0.00001
|
NM_001077365.2(POMT1):c.699+67G>A
|
rs776061161
|
0.00001
|
NM_001077365.2(POMT1):c.699+68T>C
|
rs759254028
|
0.00001
|
NM_001077365.2(POMT1):c.700G>A (p.Val234Ile)
|
rs755248350
|
0.00001
|
NM_001077365.2(POMT1):c.721C>G (p.Leu241Val)
|
rs374335795
|
0.00001
|
NM_001077365.2(POMT1):c.723C>T (p.Leu241=)
|
rs765290860
|
0.00001
|
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr)
|
rs779771679
|
0.00001
|
NM_001077365.2(POMT1):c.753G>A (p.Pro251=)
|
rs748485512
|
0.00001
|
NM_001077365.2(POMT1):c.756C>A (p.Val252=)
|
rs1286632929
|
0.00001
|
NM_001077365.2(POMT1):c.774C>T (p.Phe258=)
|
rs761217834
|
0.00001
|
NM_001077365.2(POMT1):c.780C>T (p.Tyr260=)
|
rs776755041
|
0.00001
|
NM_001077365.2(POMT1):c.783C>T (p.Val261=)
|
rs765387571
|
0.00001
|
NM_001077365.2(POMT1):c.816C>T (p.His272=)
|
rs191404622
|
0.00001
|
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)
|
rs119462981
|
0.00001
|
NM_001077365.2(POMT1):c.86G>T (p.Ser29Ile)
|
rs771234098
|
0.00001
|
NM_001077365.2(POMT1):c.908C>T (p.Ser303Phe)
|
rs1415622281
|
0.00001
|
NM_001077365.2(POMT1):c.917C>T (p.Thr306Ile)
|
rs1377535146
|
0.00001
|
NM_001077365.2(POMT1):c.919C>T (p.Leu307=)
|
rs983634068
|
0.00001
|
NM_001077365.2(POMT1):c.934G>A (p.Gly312Arg)
|
rs1428763564
|
0.00001
|
NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter)
|
rs759848847
|
0.00001
|
NM_001077365.2(POMT1):c.986+1G>A
|
rs961071228
|
0.00001
|
NM_001079802.2(FKTN):c.*1511A>G
|
rs886063326
|
0.00001
|
NM_001079802.2(FKTN):c.*166A>G
|
rs1419619269
|
0.00001
|
NM_001079802.2(FKTN):c.*324G>C
|
rs536822992
|
0.00001
|
NM_001079802.2(FKTN):c.*4501A>G
|
rs1045549173
|
0.00001
|
NM_001079802.2(FKTN):c.*4599G>A
|
rs886063338
|
0.00001
|
NM_001079802.2(FKTN):c.*462T>C
|
rs1014071784
|
0.00001
|
NM_001079802.2(FKTN):c.*4908A>G
|
rs1834324161
|
0.00001
|
NM_001079802.2(FKTN):c.*4940C>G
|
rs886063339
|
0.00001
|
NM_001079802.2(FKTN):c.*5003T>G
|
rs886063340
|
0.00001
|
NM_001079802.2(FKTN):c.*5161C>T
|
rs886063341
|
0.00001
|
NM_001079802.2(FKTN):c.*777C>A
|
rs369316426
|
0.00001
|
NM_001079802.2(FKTN):c.-114G>A
|
rs1564210000
|
0.00001
|
NM_001079802.2(FKTN):c.1009G>T (p.Asp337Tyr)
|
rs752721354
|
0.00001
|
NM_001079802.2(FKTN):c.1010A>T (p.Asp337Val)
|
rs760756067
|
0.00001
|
NM_001079802.2(FKTN):c.1022C>T (p.Pro341Leu)
|
rs764441249
|
0.00001
|
NM_001079802.2(FKTN):c.1048G>A (p.Glu350Lys)
|
rs750759323
|
0.00001
|
NM_001079802.2(FKTN):c.105+6T>G
|
rs754468850
|
0.00001
|
NM_001079802.2(FKTN):c.1056C>G (p.Ser352Arg)
|
rs149085844
|
0.00001
|
NM_001079802.2(FKTN):c.109G>A (p.Gly37Arg)
|
rs773884973
|
0.00001
|
NM_001079802.2(FKTN):c.1107C>G (p.Phe369Leu)
|
rs905981141
|
0.00001
|
NM_001079802.2(FKTN):c.111A>G (p.Gly37=)
|
rs199594298
|
0.00001
|
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)
|
rs1554761402
|
0.00001
|
NM_001079802.2(FKTN):c.1135A>G (p.Asn379Asp)
|
rs1048088668
|
0.00001
|
NM_001079802.2(FKTN):c.1150G>A (p.Ala384Thr)
|
rs1343750016
|
0.00001
|
NM_001079802.2(FKTN):c.1170C>A (p.Phe390Leu)
|
rs1831570423
|
0.00001
|
NM_001079802.2(FKTN):c.1172+11A>T
|
rs891588561
|
0.00001
|
NM_001079802.2(FKTN):c.1174T>C (p.Tyr392His)
|
rs752191412
|
0.00001
|
NM_001079802.2(FKTN):c.1178T>C (p.Leu393Pro)
|
rs374962879
|
0.00001
|
NM_001079802.2(FKTN):c.117T>C (p.Gly39=)
|
rs766999475
|
0.00001
|
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser)
|
rs727502849
|
0.00001
|
NM_001079802.2(FKTN):c.1184C>T (p.Pro395Leu)
|
rs1201619662
|
0.00001
|
NM_001079802.2(FKTN):c.1186A>C (p.Lys396Gln)
|
rs1477740717
|
0.00001
|
NM_001079802.2(FKTN):c.1188G>A (p.Lys396=)
|
rs886063320
|
0.00001
|
NM_001079802.2(FKTN):c.1194A>G (p.Thr398=)
|
rs1833922498
|
0.00001
|
NM_001079802.2(FKTN):c.1195C>T (p.Leu399=)
|
rs768867435
|
0.00001
|
NM_001079802.2(FKTN):c.1218C>T (p.Asp406=)
|
rs760470596
|
0.00001
|
NM_001079802.2(FKTN):c.1224G>A (p.Lys408=)
|
rs200091271
|
0.00001
|
NM_001079802.2(FKTN):c.1260A>G (p.Glu420=)
|
rs1290782710
|
0.00001
|
NM_001079802.2(FKTN):c.1268A>G (p.Tyr423Cys)
|
rs938689811
|
0.00001
|
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg)
|
rs1833937117
|
0.00001
|
NM_001079802.2(FKTN):c.1298C>T (p.Thr433Met)
|
rs201590151
|
0.00001
|
NM_001079802.2(FKTN):c.1299G>A (p.Thr433=)
|
rs912930168
|
0.00001
|
NM_001079802.2(FKTN):c.129C>T (p.Ser43=)
|
rs760571628
|
0.00001
|
NM_001079802.2(FKTN):c.12C>G (p.Ile4Met)
|
rs1389073650
|
0.00001
|
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=)
|
rs904253784
|
0.00001
|
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs)
|
rs775366895
|
0.00001
|
NM_001079802.2(FKTN):c.138C>A (p.Ser46Arg)
|
rs1826853440
|
0.00001
|
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)
|
rs119463990
|
0.00001
|
NM_001079802.2(FKTN):c.13A>G (p.Asn5Asp)
|
rs765929865
|
0.00001
|
NM_001079802.2(FKTN):c.143T>C (p.Ile48Thr)
|
rs886044478
|
0.00001
|
NM_001079802.2(FKTN):c.154A>G (p.Ser52Gly)
|
rs1064796459
|
0.00001
|
NM_001079802.2(FKTN):c.166-12T>A
|
rs1419099088
|
0.00001
|
NM_001079802.2(FKTN):c.180A>G (p.Lys60=)
|
rs886042513
|
0.00001
|
NM_001079802.2(FKTN):c.198C>G (p.Ser66=)
|
rs367868644
|
0.00001
|
NM_001079802.2(FKTN):c.21C>T (p.Asn7=)
|
rs564632018
|
0.00001
|
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala)
|
rs886063319
|
0.00001
|
NM_001079802.2(FKTN):c.292A>G (p.Thr98Ala)
|
rs758798692
|
0.00001
|
NM_001079802.2(FKTN):c.296C>T (p.Ser99Leu)
|
rs768260007
|
0.00001
|
NM_001079802.2(FKTN):c.305A>G (p.Lys102Arg)
|
rs757253023
|
0.00001
|
NM_001079802.2(FKTN):c.330T>C (p.Phe110=)
|
rs769567661
|
0.00001
|
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)
|
rs119463991
|
0.00001
|
NM_001079802.2(FKTN):c.34C>G (p.Leu12Val)
|
rs939985733
|
0.00001
|
NM_001079802.2(FKTN):c.357A>G (p.Leu119=)
|
rs760933616
|
0.00001
|
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys)
|
rs150591365
|
0.00001
|
NM_001079802.2(FKTN):c.369+1G>C
|
rs764125009
|
0.00001
|
NM_001079802.2(FKTN):c.382C>T (p.Arg128Trp)
|
rs767026996
|
0.00001
|
NM_001079802.2(FKTN):c.389C>T (p.Ala130Val)
|
rs752196884
|
0.00001
|
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer)
|
rs1309132512
|
0.00001
|
NM_001079802.2(FKTN):c.436C>T (p.Arg146Trp)
|
rs1208639233
|
0.00001
|
NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly)
|
rs773305645
|
0.00001
|
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg)
|
rs200686690
|
0.00001
|
NM_001079802.2(FKTN):c.508G>A (p.Ala170Thr)
|
rs778818366
|
0.00001
|
NM_001079802.2(FKTN):c.516C>G (p.His172Gln)
|
rs1436386821
|
0.00001
|
NM_001079802.2(FKTN):c.526T>G (p.Phe176Val)
|
rs746813994
|
0.00001
|
NM_001079802.2(FKTN):c.545A>G (p.Asn182Ser)
|
rs760170065
|
0.00001
|
NM_001079802.2(FKTN):c.556C>T (p.His186Tyr)
|
rs767961629
|
0.00001
|
NM_001079802.2(FKTN):c.558C>T (p.His186=)
|
rs761342779
|
0.00001
|
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser)
|
rs1187674499
|
0.00001
|
NM_001079802.2(FKTN):c.584T>C (p.Ile195Thr)
|
rs753503050
|
0.00001
|
NM_001079802.2(FKTN):c.588C>T (p.Asp196=)
|
rs1222153269
|
0.00001
|
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)
|
rs746763506
|
0.00001
|
NM_001079802.2(FKTN):c.643G>C (p.Asp215His)
|
rs745975808
|
0.00001
|
NM_001079802.2(FKTN):c.647+4A>G
|
rs1828505595
|
0.00001
|
NM_001079802.2(FKTN):c.648-8G>A
|
rs754786678
|
0.00001
|
NM_001079802.2(FKTN):c.648-9T>C
|
rs751515600
|
0.00001
|
NM_001079802.2(FKTN):c.66G>A (p.Leu22=)
|
rs762170532
|
0.00001
|
NM_001079802.2(FKTN):c.685G>A (p.Val229Ile)
|
rs772111890
|
0.00001
|
NM_001079802.2(FKTN):c.6T>G (p.Ser2Arg)
|
rs1350049256
|
0.00001
|
NM_001079802.2(FKTN):c.706A>G (p.Met236Val)
|
rs886042241
|
0.00001
|
NM_001079802.2(FKTN):c.707T>G (p.Met236Arg)
|
rs769033293
|
0.00001
|
NM_001079802.2(FKTN):c.755A>T (p.Tyr252Phe)
|
rs574626895
|
0.00001
|
NM_001079802.2(FKTN):c.75G>A (p.Leu25=)
|
rs188900946
|
0.00001
|
NM_001079802.2(FKTN):c.78C>T (p.Tyr26=)
|
rs369797361
|
0.00001
|
NM_001079802.2(FKTN):c.793G>C (p.Asp265His)
|
rs1372525892
|
0.00001
|
NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly)
|
rs1037406947
|
0.00001
|
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu)
|
rs878854165
|
0.00001
|
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)
|
rs558187116
|
0.00001
|
NM_001079802.2(FKTN):c.841C>T (p.Leu281=)
|
rs199697041
|
0.00001
|
NM_001079802.2(FKTN):c.855G>A (p.Ala285=)
|
rs1057521448
|
0.00001
|
NM_001079802.2(FKTN):c.895A>C (p.Ser299Arg)
|
rs367662190
|
0.00001
|
NM_001079802.2(FKTN):c.910+4A>C
|
rs1830640350
|
0.00001
|
NM_001079802.2(FKTN):c.910+9C>G
|
rs1261411883
|
0.00001
|
NM_001079802.2(FKTN):c.911-12T>A
|
rs1831127930
|
0.00001
|
NM_001079802.2(FKTN):c.911-1G>A
|
rs958678700
|
0.00001
|
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)
|
rs119463992
|
0.00001
|
NM_001079802.2(FKTN):c.92A>G (p.Tyr31Cys)
|
rs533603648
|
0.00001
|
NM_001079802.2(FKTN):c.939T>G (p.Pro313=)
|
rs1352489957
|
0.00001
|
NM_001079802.2(FKTN):c.942T>C (p.Tyr314=)
|
rs970907026
|
0.00001
|
NM_001079802.2(FKTN):c.972A>G (p.Ile324Met)
|
rs769691253
|
0.00001
|
NM_001079802.2(FKTN):c.978T>C (p.Asp326=)
|
rs1018122957
|
0.00001
|
NM_001079802.2(FKTN):c.989A>G (p.Asp330Gly)
|
rs1414568181
|
0.00001
|
NM_001101426.4(CRPPA):c.1045C>A (p.Gln349Lys)
|
rs774852908
|
0.00001
|
NM_001101426.4(CRPPA):c.1092C>T (p.Cys364=)
|
rs1418861315
|
0.00001
|
NM_001101426.4(CRPPA):c.1120-4G>A
|
rs886042445
|
0.00001
|
NM_001101426.4(CRPPA):c.1128T>C (p.Phe376=)
|
rs1403975634
|
0.00001
|
NM_001101426.4(CRPPA):c.1146A>G (p.Val382=)
|
rs746837359
|
0.00001
|
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr)
|
rs762217429
|
0.00001
|
NM_001101426.4(CRPPA):c.1194A>T (p.Ala398=)
|
rs769147263
|
0.00001
|
NM_001101426.4(CRPPA):c.1226A>G (p.Tyr409Cys)
|
rs1325845862
|
0.00001
|
NM_001101426.4(CRPPA):c.1234C>G (p.Leu412Val)
|
rs747967711
|
0.00001
|
NM_001101426.4(CRPPA):c.1251+19T>A
|
rs751907599
|
0.00001
|
NM_001101426.4(CRPPA):c.1251+2T>C
|
rs370373583
|
0.00001
|
NM_001101426.4(CRPPA):c.1282C>A (p.Gln428Lys)
|
rs985567350
|
0.00001
|
NM_001101426.4(CRPPA):c.12G>A (p.Gly4=)
|
rs1284386964
|
0.00001
|
NM_001101426.4(CRPPA):c.1301C>T (p.Ala434Val)
|
rs886044370
|
0.00001
|
NM_001101426.4(CRPPA):c.1305A>G (p.Ser435=)
|
rs1027005660
|
0.00001
|
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)
|
rs186882839
|
0.00001
|
NM_001101426.4(CRPPA):c.136G>C (p.Ala46Pro)
|
rs886043286
|
0.00001
|
NM_001101426.4(CRPPA):c.139G>A (p.Val47Met)
|
rs886043960
|
0.00001
|
NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser)
|
rs1037010291
|
0.00001
|
NM_001101426.4(CRPPA):c.189C>T (p.Pro63=)
|
rs1788325301
|
0.00001
|
NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr)
|
rs886042489
|
0.00001
|
NM_001101426.4(CRPPA):c.1A>G (p.Met1Val)
|
rs886043573
|
0.00001
|
NM_001101426.4(CRPPA):c.231C>T (p.Ile77=)
|
rs1271300165
|
0.00001
|
NM_001101426.4(CRPPA):c.240C>T (p.Thr80=)
|
rs1281024369
|
0.00001
|
NM_001101426.4(CRPPA):c.257+10C>A
|
rs1391659845
|
0.00001
|
NM_001101426.4(CRPPA):c.257+17C>T
|
rs895474080
|
0.00001
|
NM_001101426.4(CRPPA):c.283G>T (p.Val95Leu)
|
rs751704613
|
0.00001
|
NM_001101426.4(CRPPA):c.315G>A (p.Met105Ile)
|
rs1190661385
|
0.00001
|
NM_001101426.4(CRPPA):c.332A>G (p.Lys111Arg)
|
rs373082181
|
0.00001
|
NM_001101426.4(CRPPA):c.361G>A (p.Glu121Lys)
|
rs764542382
|
0.00001
|
NM_001101426.4(CRPPA):c.37G>A (p.Glu13Lys)
|
rs1403508868
|
0.00001
|
NM_001101426.4(CRPPA):c.382A>C (p.Arg128=)
|
rs765435429
|
0.00001
|
NM_001101426.4(CRPPA):c.409C>G (p.Leu137Val)
|
rs769346091
|
0.00001
|
NM_001101426.4(CRPPA):c.498C>A (p.Val166=)
|
rs774132708
|
0.00001
|
NM_001101426.4(CRPPA):c.533G>C (p.Gly178Ala)
|
rs747435762
|
0.00001
|
NM_001101426.4(CRPPA):c.547A>G (p.Ile183Val)
|
rs1330602558
|
0.00001
|
NM_001101426.4(CRPPA):c.550C>T (p.Arg184Ter)
|
rs370499190
|
0.00001
|
NM_001101426.4(CRPPA):c.570C>T (p.Val190=)
|
rs1170483329
|
0.00001
|
NM_001101426.4(CRPPA):c.571G>A (p.Val191Ile)
|
rs757165158
|
0.00001
|
NM_001101426.4(CRPPA):c.58G>A (p.Gly20Ser)
|
rs920749386
|
0.00001
|
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp)
|
rs1008210645
|
0.00001
|
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=)
|
rs532057629
|
0.00001
|
NM_001101426.4(CRPPA):c.658G>C (p.Asp220His)
|
rs1210618248
|
0.00001
|
NM_001101426.4(CRPPA):c.676T>C (p.Tyr226His)
|
rs1282788711
|
0.00001
|
NM_001101426.4(CRPPA):c.677A>G (p.Tyr226Cys)
|
rs1289931198
|
0.00001
|
NM_001101426.4(CRPPA):c.685-3C>T
|
rs776027620
|
0.00001
|
NM_001101426.4(CRPPA):c.715G>A (p.Glu239Lys)
|
rs778786691
|
0.00001
|
NM_001101426.4(CRPPA):c.765A>G (p.Val255=)
|
rs372514498
|
0.00001
|
NM_001101426.4(CRPPA):c.7G>C (p.Ala3Pro)
|
rs794726893
|
0.00001
|
NM_001101426.4(CRPPA):c.803G>A (p.Arg268Gln)
|
rs757986706
|
0.00001
|
NM_001101426.4(CRPPA):c.836-9T>A
|
rs754223084
|
0.00001
|
NM_001101426.4(CRPPA):c.839G>T (p.Arg280Ile)
|
rs761189549
|
0.00001
|
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=)
|
rs148054819
|
0.00001
|
NM_001101426.4(CRPPA):c.890A>C (p.His297Pro)
|
rs1562603563
|
0.00001
|
NM_001101426.4(CRPPA):c.899A>G (p.His300Arg)
|
rs1345477841
|
0.00001
|
NM_001101426.4(CRPPA):c.905T>C (p.Leu302Pro)
|
rs747622460
|
0.00001
|
NM_001101426.4(CRPPA):c.909A>G (p.Glu303=)
|
rs778599626
|
0.00001
|
NM_001101426.4(CRPPA):c.933+3A>G
|
rs377582530
|
0.00001
|
NM_001101426.4(CRPPA):c.934-9T>C
|
rs771988779
|
0.00001
|
NM_001101426.4(CRPPA):c.935A>G (p.His312Arg)
|
rs555932095
|
0.00001
|
NM_001101426.4(CRPPA):c.948A>G (p.Thr316=)
|
rs780620823
|
0.00001
|
NM_001101426.4(CRPPA):c.951T>C (p.Ser317=)
|
rs1188081832
|
0.00001
|
NM_001101426.4(CRPPA):c.95T>C (p.Leu32Pro)
|
rs1020950940
|
0.00001
|
NM_001101426.4(CRPPA):c.972C>A (p.Gly324=)
|
rs370052768
|
0.00001
|
NM_001101426.4(CRPPA):c.993C>G (p.Ile331Met)
|
rs1783720553
|
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.3052C>T (p.His1018Tyr)
|
rs2077865867
|
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.717+1G>A
|
rs113969925
|
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.79A>T (p.Arg27Trp)
|
rs1031520613
|
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.982G>A (p.Gly328Arg)
|
rs779867653
|
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_002206.3(ITGA7):c.100T>C (p.Phe34Leu)
|
rs762727134
|
0.00001
|
NM_002206.3(ITGA7):c.1039C>T (p.Arg347Cys)
|
rs569613714
|
0.00001
|
NM_002206.3(ITGA7):c.1086G>T (p.Gly362=)
|
rs773472615
|
0.00001
|
NM_002206.3(ITGA7):c.1091A>T (p.His364Leu)
|
rs772387657
|
0.00001
|
NM_002206.3(ITGA7):c.1110T>G (p.Pro370=)
|
rs746695468
|
0.00001
|
NM_002206.3(ITGA7):c.1122C>T (p.Cys374=)
|
rs374967020
|
0.00001
|
NM_002206.3(ITGA7):c.1139T>C (p.Met380Thr)
|
rs762078003
|
0.00001
|
NM_002206.3(ITGA7):c.1192+8G>A
|
rs747755175
|
0.00001
|
NM_002206.3(ITGA7):c.1217A>G (p.Asp406Gly)
|
rs1298211326
|
0.00001
|
NM_002206.3(ITGA7):c.1237A>G (p.Ile413Val)
|
rs17857367
|
0.00001
|
NM_002206.3(ITGA7):c.1244A>G (p.His415Arg)
|
rs1355871507
|
0.00001
|
NM_002206.3(ITGA7):c.1256T>C (p.Leu419Pro)
|
rs757970045
|
0.00001
|
NM_002206.3(ITGA7):c.1267G>A (p.Ala423Thr)
|
rs779666592
|
0.00001
|
NM_002206.3(ITGA7):c.1282-4C>G
|
rs534961736
|
0.00001
|
NM_002206.3(ITGA7):c.128G>T (p.Arg43Leu)
|
rs794726901
|
0.00001
|
NM_002206.3(ITGA7):c.1293C>T (p.Gly431=)
|
rs757453079
|
0.00001
|
NM_002206.3(ITGA7):c.1409+11C>T
|
rs748472564
|
0.00001
|
NM_002206.3(ITGA7):c.1409+7C>G
|
rs974347459
|
0.00001
|
NM_002206.3(ITGA7):c.1422C>T (p.Ile474=)
|
rs1398913487
|
0.00001
|
NM_002206.3(ITGA7):c.1430T>A (p.Val477Asp)
|
rs1275770988
|
0.00001
|
NM_002206.3(ITGA7):c.1437T>G (p.His479Gln)
|
rs377143386
|
0.00001
|
NM_002206.3(ITGA7):c.1495C>T (p.His499Tyr)
|
rs376759983
|
0.00001
|
NM_002206.3(ITGA7):c.1511A>G (p.Asp504Gly)
|
rs750220462
|
0.00001
|
NM_002206.3(ITGA7):c.1567+3G>T
|
rs1488666622
|
0.00001
|
NM_002206.3(ITGA7):c.1600C>T (p.Arg534Trp)
|
rs780868817
|
0.00001
|
NM_002206.3(ITGA7):c.1610G>A (p.Arg537Gln)
|
rs752569950
|
0.00001
|
NM_002206.3(ITGA7):c.1642C>T (p.Arg548Cys)
|
rs146411608
|
0.00001
|
NM_002206.3(ITGA7):c.1643G>A (p.Arg548His)
|
rs746596659
|
0.00001
|
NM_002206.3(ITGA7):c.1710C>G (p.Val570=)
|
rs1271639727
|
0.00001
|
NM_002206.3(ITGA7):c.172C>T (p.Leu58=)
|
rs749604747
|
0.00001
|
NM_002206.3(ITGA7):c.1737+14C>A
|
rs891075590
|
0.00001
|
NM_002206.3(ITGA7):c.1738-8C>G
|
rs765976001
|
0.00001
|
NM_002206.3(ITGA7):c.1759C>T (p.Arg587Trp)
|
rs139024853
|
0.00001
|
NM_002206.3(ITGA7):c.1771G>A (p.Val591Met)
|
rs774213412
|
0.00001
|
NM_002206.3(ITGA7):c.1819C>T (p.Pro607Ser)
|
rs139663941
|
0.00001
|
NM_002206.3(ITGA7):c.1823G>T (p.Gly608Val)
|
rs765710345
|
0.00001
|
NM_002206.3(ITGA7):c.1897C>G (p.Leu633Val)
|
rs1055134100
|
0.00001
|
NM_002206.3(ITGA7):c.193C>A (p.Arg65=)
|
rs17854602
|
0.00001
|
NM_002206.3(ITGA7):c.1951C>T (p.Arg651Cys)
|
rs1171244321
|
0.00001
|
NM_002206.3(ITGA7):c.1953C>T (p.Arg651=)
|
rs751065767
|
0.00001
|
NM_002206.3(ITGA7):c.1957C>T (p.Arg653Cys)
|
rs1051135124
|
0.00001
|
NM_002206.3(ITGA7):c.1969C>T (p.Arg657Trp)
|
rs528020122
|
0.00001
|
NM_002206.3(ITGA7):c.1977C>T (p.Ser659=)
|
rs772181715
|
0.00001
|
NM_002206.3(ITGA7):c.1983G>A (p.Thr661=)
|
rs200362287
|
0.00001
|
NM_002206.3(ITGA7):c.2003+6G>C
|
rs577585789
|
0.00001
|
NM_002206.3(ITGA7):c.2006A>G (p.Asp669Gly)
|
rs529009372
|
0.00001
|
NM_002206.3(ITGA7):c.205T>G (p.Trp69Gly)
|
rs1875458381
|
0.00001
|
NM_002206.3(ITGA7):c.2098C>T (p.Gln700Ter)
|
rs147648235
|
0.00001
|
NM_002206.3(ITGA7):c.2136G>C (p.Gln712His)
|
rs373231582
|
0.00001
|
NM_002206.3(ITGA7):c.214G>C (p.Val72Leu)
|
rs766173576
|
0.00001
|
NM_002206.3(ITGA7):c.2197-7A>G
|
rs745457853
|
0.00001
|
NM_002206.3(ITGA7):c.2217C>T (p.Ser739=)
|
rs746986308
|
0.00001
|
NM_002206.3(ITGA7):c.2220T>C (p.Asn740=)
|
rs1592432574
|
0.00001
|
NM_002206.3(ITGA7):c.2278G>A (p.Val760Ile)
|
rs773004449
|
0.00001
|
NM_002206.3(ITGA7):c.2327C>T (p.Thr776Met)
|
rs1872184486
|
0.00001
|
NM_002206.3(ITGA7):c.2328G>A (p.Thr776=)
|
rs369566439
|
0.00001
|
NM_002206.3(ITGA7):c.2346G>A (p.Leu782=)
|
rs376433899
|
0.00001
|
NM_002206.3(ITGA7):c.2357+10G>A
|
rs1555160977
|
0.00001
|
NM_002206.3(ITGA7):c.2358-4C>T
|
rs1173725390
|
0.00001
|
NM_002206.3(ITGA7):c.2359A>T (p.Ile787Phe)
|
rs1307621254
|
0.00001
|
NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter)
|
rs755438542
|
0.00001
|
NM_002206.3(ITGA7):c.2393G>A (p.Arg798Gln)
|
rs923021284
|
0.00001
|
NM_002206.3(ITGA7):c.2409T>C (p.Ile803=)
|
rs1232500854
|
0.00001
|
NM_002206.3(ITGA7):c.2412G>T (p.Glu804Asp)
|
rs775379371
|
0.00001
|
NM_002206.3(ITGA7):c.2470G>T (p.Val824Leu)
|
rs763739936
|
0.00001
|
NM_002206.3(ITGA7):c.2476G>A (p.Gly826Ser)
|
rs761965919
|
0.00001
|
NM_002206.3(ITGA7):c.247C>T (p.Gln83Ter)
|
rs1055839662
|
0.00001
|
NM_002206.3(ITGA7):c.2535+5G>C
|
rs754770500
|
0.00001
|
NM_002206.3(ITGA7):c.2536-6C>G
|
rs779656440
|
0.00001
|
NM_002206.3(ITGA7):c.2536-8T>C
|
rs753697864
|
0.00001
|
NM_002206.3(ITGA7):c.2555C>T (p.Ser852Leu)
|
rs764412210
|
0.00001
|
NM_002206.3(ITGA7):c.2567T>C (p.Leu856Pro)
|
rs1403426045
|
0.00001
|
NM_002206.3(ITGA7):c.2656G>A (p.Gly886Arg)
|
rs764017834
|
0.00001
|
NM_002206.3(ITGA7):c.2712+10A>T
|
rs879248530
|
0.00001
|
NM_002206.3(ITGA7):c.2779C>T (p.Arg927Trp)
|
rs760407686
|
0.00001
|
NM_002206.3(ITGA7):c.277G>A (p.Ala93Thr)
|
rs777338785
|
0.00001
|
NM_002206.3(ITGA7):c.2780G>A (p.Arg927Gln)
|
rs200712509
|
0.00001
|
NM_002206.3(ITGA7):c.283C>G (p.Pro95Ala)
|
rs940540167
|
0.00001
|
NM_002206.3(ITGA7):c.2843T>C (p.Leu948Pro)
|
rs1207536526
|
0.00001
|
NM_002206.3(ITGA7):c.2851G>A (p.Ala951Thr)
|
rs778278404
|
0.00001
|
NM_002206.3(ITGA7):c.2854C>T (p.Arg952Trp)
|
rs758865138
|
0.00001
|
NM_002206.3(ITGA7):c.2862G>A (p.Thr954=)
|
rs373439927
|
0.00001
|
NM_002206.3(ITGA7):c.2876T>C (p.Val959Ala)
|
rs139858869
|
0.00001
|
NM_002206.3(ITGA7):c.2905C>T (p.Arg969Cys)
|
rs17857368
|
0.00001
|
NM_002206.3(ITGA7):c.2908G>A (p.Ala970Thr)
|
rs767472988
|
0.00001
|
NM_002206.3(ITGA7):c.2917C>A (p.Leu973Met)
|
rs778047540
|
0.00001
|
NM_002206.3(ITGA7):c.2924T>C (p.Val975Ala)
|
rs748642428
|
0.00001
|
NM_002206.3(ITGA7):c.2958+15C>T
|
rs768792172
|
0.00001
|
NM_002206.3(ITGA7):c.2958+9A>G
|
rs1382710214
|
0.00001
|
NM_002206.3(ITGA7):c.2983G>A (p.Glu995Lys)
|
rs765253422
|
0.00001
|
NM_002206.3(ITGA7):c.29G>T (p.Trp10Leu)
|
rs775325159
|
0.00001
|
NM_002206.3(ITGA7):c.3040C>T (p.Arg1014Ter)
|
rs377510220
|
0.00001
|
NM_002206.3(ITGA7):c.3057+8G>A
|
rs149798650
|
0.00001
|
NM_002206.3(ITGA7):c.3064G>C (p.Val1022Leu)
|
rs1292181810
|
0.00001
|
NM_002206.3(ITGA7):c.307T>A (p.Cys103Ser)
|
rs779677072
|
0.00001
|
NM_002206.3(ITGA7):c.3118G>T (p.Val1040Phe)
|
rs764565180
|
0.00001
|
NM_002206.3(ITGA7):c.3160C>T (p.Leu1054=)
|
rs779766907
|
0.00001
|
NM_002206.3(ITGA7):c.3204G>A (p.Ala1068=)
|
rs759134989
|
0.00001
|
NM_002206.3(ITGA7):c.3223G>A (p.Val1075Met)
|
rs375842647
|
0.00001
|
NM_002206.3(ITGA7):c.3233A>G (p.Tyr1078Cys)
|
rs1351426569
|
0.00001
|
NM_002206.3(ITGA7):c.3236A>G (p.His1079Arg)
|
rs749520789
|
0.00001
|
NM_002206.3(ITGA7):c.3237T>C (p.His1079=)
|
rs756477823
|
0.00001
|
NM_002206.3(ITGA7):c.3323G>A (p.Arg1108Gln)
|
rs201709662
|
0.00001
|
NM_002206.3(ITGA7):c.3325C>T (p.Arg1109Trp)
|
rs117803261
|
0.00001
|
NM_002206.3(ITGA7):c.3336G>A (p.Pro1112=)
|
rs1473457136
|
0.00001
|
NM_002206.3(ITGA7):c.3342A>C (p.Ala1114=)
|
rs1053757337
|
0.00001
|
NM_002206.3(ITGA7):c.3353T>C (p.Leu1118Pro)
|
rs1321072683
|
0.00001
|
NM_002206.3(ITGA7):c.3396A>G (p.Pro1132=)
|
rs943636312
|
0.00001
|
NM_002206.3(ITGA7):c.3405C>G (p.Gly1135=)
|
rs1869761757
|
0.00001
|
NM_002206.3(ITGA7):c.341T>C (p.Met114Thr)
|
rs761095619
|
0.00001
|
NM_002206.3(ITGA7):c.410T>C (p.Ile137Thr)
|
rs780832051
|
0.00001
|
NM_002206.3(ITGA7):c.415-19C>T
|
rs772057526
|
0.00001
|
NM_002206.3(ITGA7):c.415-5C>T
|
rs1382822280
|
0.00001
|
NM_002206.3(ITGA7):c.428G>A (p.Arg143Gln)
|
rs537937026
|
0.00001
|
NM_002206.3(ITGA7):c.432T>C (p.Tyr144=)
|
rs1269569892
|
0.00001
|
NM_002206.3(ITGA7):c.446G>A (p.Arg149Gln)
|
rs758978382
|
0.00001
|
NM_002206.3(ITGA7):c.470G>A (p.Arg157Gln)
|
rs867646342
|
0.00001
|
NM_002206.3(ITGA7):c.508C>T (p.Leu170=)
|
rs913850889
|
0.00001
|
NM_002206.3(ITGA7):c.558A>G (p.Gly186=)
|
rs552091036
|
0.00001
|
NM_002206.3(ITGA7):c.644G>A (p.Gly215Glu)
|
rs928072732
|
0.00001
|
NM_002206.3(ITGA7):c.648C>T (p.Ala216=)
|
rs1250879059
|
0.00001
|
NM_002206.3(ITGA7):c.670+13T>C
|
rs1408330105
|
0.00001
|
NM_002206.3(ITGA7):c.670+14C>T
|
rs374847926
|
0.00001
|
NM_002206.3(ITGA7):c.671-10C>T
|
rs1355243416
|
0.00001
|
NM_002206.3(ITGA7):c.709G>A (p.Asp237Asn)
|
rs754762899
|
0.00001
|
NM_002206.3(ITGA7):c.751C>T (p.Pro251Ser)
|
rs781039935
|
0.00001
|
NM_002206.3(ITGA7):c.777C>T (p.Leu259=)
|
rs200591528
|
0.00001
|
NM_002206.3(ITGA7):c.783C>T (p.Ser261=)
|
rs143583891
|
0.00001
|
NM_002206.3(ITGA7):c.7G>A (p.Gly3Arg)
|
rs544939783
|
0.00001
|
NM_002206.3(ITGA7):c.820G>A (p.Val274Met)
|
rs772161897
|
0.00001
|
NM_002206.3(ITGA7):c.883G>C (p.Val295Leu)
|
rs781541108
|
0.00001
|
NM_002206.3(ITGA7):c.904G>A (p.Ala302Thr)
|
rs750041574
|
0.00001
|
NM_002206.3(ITGA7):c.942G>A (p.Glu314=)
|
rs1297332914
|
0.00001
|
NM_002206.3(ITGA7):c.998+11A>G
|
rs1180308671
|
0.00001
|
NM_002206.3(ITGA7):c.998+18C>T
|
rs370001763
|
0.00001
|
NM_002206.3(ITGA7):c.999-10C>T
|
rs372202806
|
0.00001
|
NM_003863.3(DPM2):c.-208G>A
|
rs1290789503
|
0.00001
|
NM_003863.3(DPM2):c.-88C>T
|
rs886063484
|
0.00001
|
NM_003863.4(DPM2):c.*14A>T
|
rs1352343761
|
0.00001
|
NM_003863.4(DPM2):c.*529G>A
|
rs926580610
|
0.00001
|
NM_003863.4(DPM2):c.107G>A (p.Ser36Asn)
|
rs771463310
|
0.00001
|
NM_003863.4(DPM2):c.114T>C (p.His38=)
|
rs1482824230
|
0.00001
|
NM_003863.4(DPM2):c.124A>G (p.Lys42Glu)
|
rs370170911
|
0.00001
|
NM_003863.4(DPM2):c.127T>C (p.Tyr43His)
|
rs1275174624
|
0.00001
|
NM_003863.4(DPM2):c.144C>T (p.Ala48=)
|
rs779110103
|
0.00001
|
NM_003863.4(DPM2):c.145T>A (p.Tyr49Asn)
|
rs755055369
|
0.00001
|
NM_003863.4(DPM2):c.184C>G (p.Leu62Val)
|
rs766817693
|
0.00001
|
NM_003863.4(DPM2):c.197-9_197-8insA
|
rs1314437874
|
0.00001
|
NM_003863.4(DPM2):c.208T>G (p.Ser70Ala)
|
rs759597928
|
0.00001
|
NM_003863.4(DPM2):c.3+5G>A
|
rs1333396682
|
0.00001
|
NM_003863.4(DPM2):c.33C>T (p.Leu11=)
|
rs781596486
|
0.00001
|
NM_003863.4(DPM2):c.93+13C>A
|
rs772691262
|
0.00001
|
NM_003863.4(DPM2):c.94-8G>T
|
rs773731630
|
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.5888A>G (p.Gln1963Arg)
|
rs1766321428
|
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.6295T>G (p.Tyr2099Asp)
|
rs1366474005
|
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_004393.6(DAG1):c.1014C>T (p.Ile338=)
|
rs773685771
|
0.00001
|
NM_004393.6(DAG1):c.1015G>A (p.Val339Met)
|
rs763537489
|
0.00001
|
NM_004393.6(DAG1):c.1067C>T (p.Pro356Leu)
|
rs757225645
|
0.00001
|
NM_004393.6(DAG1):c.1088C>T (p.Pro363Leu)
|
rs2051348754
|
0.00001
|
NM_004393.6(DAG1):c.1100C>T (p.Thr367Met)
|
rs746712913
|
0.00001
|
NM_004393.6(DAG1):c.1130T>C (p.Ile377Thr)
|
rs772614314
|
0.00001
|
NM_004393.6(DAG1):c.1182C>T (p.Gly394=)
|
rs758186665
|
0.00001
|
NM_004393.6(DAG1):c.1193C>G (p.Pro398Arg)
|
rs751173028
|
0.00001
|
NM_004393.6(DAG1):c.1206C>T (p.Arg402=)
|
rs886043253
|
0.00001
|
NM_004393.6(DAG1):c.1230T>C (p.Tyr410=)
|
rs374625327
|
0.00001
|
NM_004393.6(DAG1):c.1315A>G (p.Thr439Ala)
|
rs747370227
|
0.00001
|
NM_004393.6(DAG1):c.1320C>T (p.Asp440=)
|
rs377309865
|
0.00001
|
NM_004393.6(DAG1):c.1321T>C (p.Ser441Pro)
|
rs899605177
|
0.00001
|
NM_004393.6(DAG1):c.1356A>G (p.Lys452=)
|
rs201720631
|
0.00001
|
NM_004393.6(DAG1):c.1358C>T (p.Pro453Leu)
|
rs888121881
|
0.00001
|
NM_004393.6(DAG1):c.1379C>T (p.Pro460Leu)
|
rs2051359862
|
0.00001
|
NM_004393.6(DAG1):c.1382G>A (p.Arg461Gln)
|
rs755343255
|
0.00001
|
NM_004393.6(DAG1):c.1401C>T (p.Ser467=)
|
rs1222765845
|
0.00001
|
NM_004393.6(DAG1):c.1436G>A (p.Arg479His)
|
rs369458042
|
0.00001
|
NM_004393.6(DAG1):c.1441C>T (p.Arg481Cys)
|
rs763653277
|
0.00001
|
NM_004393.6(DAG1):c.1445C>T (p.Thr482Ile)
|
rs753581815
|
0.00001
|
NM_004393.6(DAG1):c.1466G>A (p.Arg489His)
|
rs373379560
|
0.00001
|
NM_004393.6(DAG1):c.1476A>C (p.Glu492Asp)
|
rs1251608960
|
0.00001
|
NM_004393.6(DAG1):c.148A>G (p.Met50Val)
|
rs758104540
|
0.00001
|
NM_004393.6(DAG1):c.1514G>A (p.Arg505Lys)
|
rs1411304453
|
0.00001
|
NM_004393.6(DAG1):c.1543G>A (p.Glu515Lys)
|
rs142703906
|
0.00001
|
NM_004393.6(DAG1):c.1621C>T (p.Arg541Trp)
|
rs944959231
|
0.00001
|
NM_004393.6(DAG1):c.1622G>A (p.Arg541Gln)
|
rs1425201998
|
0.00001
|
NM_004393.6(DAG1):c.1674C>T (p.Ser558=)
|
rs768293578
|
0.00001
|
NM_004393.6(DAG1):c.1747G>A (p.Gly583Arg)
|
rs781334046
|
0.00001
|
NM_004393.6(DAG1):c.174C>T (p.His58=)
|
rs760114682
|
0.00001
|
NM_004393.6(DAG1):c.1751G>T (p.Gly584Val)
|
rs547711379
|
0.00001
|
NM_004393.6(DAG1):c.1752C>A (p.Gly584=)
|
rs769750924
|
0.00001
|
NM_004393.6(DAG1):c.1756T>C (p.Ser586Pro)
|
rs772951856
|
0.00001
|
NM_004393.6(DAG1):c.1774G>A (p.Glu592Lys)
|
rs759029561
|
0.00001
|
NM_004393.6(DAG1):c.1785C>T (p.Val595=)
|
rs762148188
|
0.00001
|
NM_004393.6(DAG1):c.1792C>T (p.Arg598Cys)
|
rs750567574
|
0.00001
|
NM_004393.6(DAG1):c.1793G>A (p.Arg598His)
|
rs201268364
|
0.00001
|
NM_004393.6(DAG1):c.1848G>A (p.Pro616=)
|
rs762334457
|
0.00001
|
NM_004393.6(DAG1):c.1875G>A (p.Lys625=)
|
rs886042920
|
0.00001
|
NM_004393.6(DAG1):c.1892A>G (p.Lys631Arg)
|
rs767737971
|
0.00001
|
NM_004393.6(DAG1):c.1905C>T (p.Phe635=)
|
rs577609846
|
0.00001
|
NM_004393.6(DAG1):c.1919G>A (p.Arg640Gln)
|
rs753665385
|
0.00001
|
NM_004393.6(DAG1):c.1955G>A (p.Arg652Gln)
|
rs368810294
|
0.00001
|
NM_004393.6(DAG1):c.1956G>C (p.Arg652=)
|
rs1413224403
|
0.00001
|
NM_004393.6(DAG1):c.1962C>T (p.Ser654=)
|
rs373937981
|
0.00001
|
NM_004393.6(DAG1):c.2044G>A (p.Ala682Thr)
|
rs561289962
|
0.00001
|
NM_004393.6(DAG1):c.2140C>T (p.Arg714Trp)
|
rs751260925
|
0.00001
|
NM_004393.6(DAG1):c.2174G>T (p.Arg725Met)
|
rs775808647
|
0.00001
|
NM_004393.6(DAG1):c.2195C>T (p.Pro732Leu)
|
rs148514520
|
0.00001
|
NM_004393.6(DAG1):c.21C>G (p.Leu7=)
|
rs753007018
|
0.00001
|
NM_004393.6(DAG1):c.2200A>C (p.Thr734Pro)
|
rs762713364
|
0.00001
|
NM_004393.6(DAG1):c.2201C>G (p.Thr734Arg)
|
rs940802757
|
0.00001
|
NM_004393.6(DAG1):c.2240A>T (p.Asp747Val)
|
rs755687939
|
0.00001
|
NM_004393.6(DAG1):c.2267C>T (p.Pro756Leu)
|
rs1277865091
|
0.00001
|
NM_004393.6(DAG1):c.227G>A (p.Arg76His)
|
rs950805280
|
0.00001
|
NM_004393.6(DAG1):c.229T>C (p.Ser77Pro)
|
rs2050743041
|
0.00001
|
NM_004393.6(DAG1):c.2307C>G (p.Ile769Met)
|
rs1319468242
|
0.00001
|
NM_004393.6(DAG1):c.2314A>G (p.Met772Val)
|
rs1054272302
|
0.00001
|
NM_004393.6(DAG1):c.2322C>T (p.Cys774=)
|
rs759442412
|
0.00001
|
NM_004393.6(DAG1):c.2336G>A (p.Arg779Gln)
|
rs1283360967
|
0.00001
|
NM_004393.6(DAG1):c.2366C>T (p.Ala789Val)
|
rs1426926145
|
0.00001
|
NM_004393.6(DAG1):c.2370C>G (p.Thr790=)
|
rs200927931
|
0.00001
|
NM_004393.6(DAG1):c.2392A>G (p.Ile798Val)
|
rs1290898131
|
0.00001
|
NM_004393.6(DAG1):c.23C>T (p.Ser8Leu)
|
rs199501149
|
0.00001
|
NM_004393.6(DAG1):c.2415C>T (p.Asp805=)
|
rs749427996
|
0.00001
|
NM_004393.6(DAG1):c.2510C>G (p.Pro837Arg)
|
rs886043326
|
0.00001
|
NM_004393.6(DAG1):c.2511C>T (p.Pro837=)
|
rs778665335
|
0.00001
|
NM_004393.6(DAG1):c.2552C>T (p.Thr851Met)
|
rs977000024
|
0.00001
|
NM_004393.6(DAG1):c.2553G>A (p.Thr851=)
|
rs746978083
|
0.00001
|
NM_004393.6(DAG1):c.2556C>A (p.Pro852=)
|
rs140861171
|
0.00001
|
NM_004393.6(DAG1):c.2579C>T (p.Ala860Val)
|
rs1192529932
|
0.00001
|
NM_004393.6(DAG1):c.2580G>A (p.Ala860=)
|
rs886044253
|
0.00001
|
NM_004393.6(DAG1):c.2588A>G (p.Tyr863Cys)
|
rs1436774690
|
0.00001
|
NM_004393.6(DAG1):c.2610A>C (p.Thr870=)
|
rs779926178
|
0.00001
|
NM_004393.6(DAG1):c.2635C>T (p.Arg879Cys)
|
rs147831615
|
0.00001
|
NM_004393.6(DAG1):c.2647A>G (p.Met883Val)
|
rs754908618
|
0.00001
|
NM_004393.6(DAG1):c.2652C>A (p.Thr884=)
|
rs762428862
|
0.00001
|
NM_004393.6(DAG1):c.286-17G>T
|
rs112776980
|
0.00001
|
NM_004393.6(DAG1):c.286-4C>G
|
rs759502746
|
0.00001
|
NM_004393.6(DAG1):c.403G>A (p.Ala135Thr)
|
rs774419205
|
0.00001
|
NM_004393.6(DAG1):c.403G>T (p.Ala135Ser)
|
rs774419205
|
0.00001
|
NM_004393.6(DAG1):c.471C>T (p.Tyr157=)
|
rs148393291
|
0.00001
|
NM_004393.6(DAG1):c.483C>T (p.His161=)
|
rs1261901336
|
0.00001
|
NM_004393.6(DAG1):c.496T>G (p.Ser166Ala)
|
rs1421891404
|
0.00001
|
NM_004393.6(DAG1):c.497C>T (p.Ser166Leu)
|
rs556413209
|
0.00001
|
NM_004393.6(DAG1):c.498G>A (p.Ser166=)
|
rs794727500
|
0.00001
|
NM_004393.6(DAG1):c.576G>A (p.Thr192=)
|
rs746894568
|
0.00001
|
NM_004393.6(DAG1):c.57C>T (p.Leu19=)
|
rs768105958
|
0.00001
|
NM_004393.6(DAG1):c.591C>T (p.Ala197=)
|
rs768487898
|
0.00001
|
NM_004393.6(DAG1):c.623T>C (p.Ile208Thr)
|
rs772976299
|
0.00001
|
NM_004393.6(DAG1):c.643C>T (p.Arg215Trp)
|
rs562046526
|
0.00001
|
NM_004393.6(DAG1):c.644G>A (p.Arg215Gln)
|
rs144753260
|
0.00001
|
NM_004393.6(DAG1):c.659T>C (p.Val220Ala)
|
rs998718075
|
0.00001
|
NM_004393.6(DAG1):c.717G>A (p.Ser239=)
|
rs780120566
|
0.00001
|
NM_004393.6(DAG1):c.740A>G (p.Asn247Ser)
|
rs1320232858
|
0.00001
|
NM_004393.6(DAG1):c.804G>A (p.Gln268=)
|
rs201713621
|
0.00001
|
NM_004393.6(DAG1):c.80C>G (p.Ala27Gly)
|
rs752128921
|
0.00001
|
NM_004393.6(DAG1):c.820A>G (p.Ile274Val)
|
rs1281997226
|
0.00001
|
NM_004393.6(DAG1):c.852C>T (p.Gly284=)
|
rs377173064
|
0.00001
|
NM_004393.6(DAG1):c.888T>C (p.Gly296=)
|
rs777917276
|
0.00001
|
NM_004393.6(DAG1):c.932G>A (p.Arg311Gln)
|
rs752813826
|
0.00001
|
NM_004393.6(DAG1):c.967G>T (p.Ala323Ser)
|
rs767067590
|
0.00001
|
NM_004393.6(DAG1):c.999G>A (p.Glu333=)
|
rs2051345251
|
0.00001
|
NM_005198.5(CHKB):c.-13T>C
|
rs2070729352
|
0.00001
|
NM_005198.5(CHKB):c.1031+12G>A
|
rs777277938
|
0.00001
|
NM_005198.5(CHKB):c.1031+20G>A
|
rs747464297
|
0.00001
|
NM_005198.5(CHKB):c.1031+3G>C
|
rs751176079
|
0.00001
|
NM_005198.5(CHKB):c.1031+8A>C
|
rs1472273128
|
0.00001
|
NM_005198.5(CHKB):c.1032-11C>T
|
rs777009847
|
0.00001
|
NM_005198.5(CHKB):c.1032-4C>G
|
rs761155794
|
0.00001
|
NM_005198.5(CHKB):c.1114-6C>T
|
rs151123092
|
0.00001
|
NM_005198.5(CHKB):c.1114G>C (p.Asp372His)
|
rs1415692835
|
0.00001
|
NM_005198.5(CHKB):c.1173C>T (p.Val391=)
|
rs980683552
|
0.00001
|
NM_005198.5(CHKB):c.138G>T (p.Glu46Asp)
|
rs752292240
|
0.00001
|
NM_005198.5(CHKB):c.170T>G (p.Leu57Trp)
|
rs1460255059
|
0.00001
|
NM_005198.5(CHKB):c.17C>T (p.Thr6Ile)
|
rs1555894924
|
0.00001
|
NM_005198.5(CHKB):c.204G>A (p.Glu68=)
|
rs1273220759
|
0.00001
|
NM_005198.5(CHKB):c.234C>G (p.Leu78=)
|
rs929019284
|
0.00001
|
NM_005198.5(CHKB):c.246C>T (p.Leu82=)
|
rs1465614518
|
0.00001
|
NM_005198.5(CHKB):c.27C>T (p.Ala9=)
|
rs950364450
|
0.00001
|
NM_005198.5(CHKB):c.302T>C (p.Val101Ala)
|
rs1358664458
|
0.00001
|
NM_005198.5(CHKB):c.354A>G (p.Leu118=)
|
rs142607228
|
0.00001
|
NM_005198.5(CHKB):c.360C>T (p.Ser120=)
|
rs745967029
|
0.00001
|
NM_005198.5(CHKB):c.423G>T (p.Glu141Asp)
|
rs766046984
|
0.00001
|
NM_005198.5(CHKB):c.42T>A (p.Val14=)
|
rs2070726709
|
0.00001
|
NM_005198.5(CHKB):c.432G>A (p.Leu144=)
|
rs1374991317
|
0.00001
|
NM_005198.5(CHKB):c.451C>T (p.Arg151Trp)
|
rs148857303
|
0.00001
|
NM_005198.5(CHKB):c.516G>A (p.Ala172=)
|
rs200220080
|
0.00001
|
NM_005198.5(CHKB):c.633C>T (p.Asn211=)
|
rs963611942
|
0.00001
|
NM_005198.5(CHKB):c.63C>T (p.Asp21=)
|
rs763705112
|
0.00001
|
NM_005198.5(CHKB):c.641A>G (p.Glu214Gly)
|
rs997259215
|
0.00001
|
NM_005198.5(CHKB):c.642G>T (p.Glu214Asp)
|
rs761029141
|
0.00001
|
NM_005198.5(CHKB):c.677+16A>G
|
rs777309411
|
0.00001
|
NM_005198.5(CHKB):c.678-12A>G
|
rs749813559
|
0.00001
|
NM_005198.5(CHKB):c.692C>G (p.Ser231Cys)
|
rs199783402
|
0.00001
|
NM_005198.5(CHKB):c.697C>T (p.Pro233Ser)
|
rs1373704548
|
0.00001
|
NM_005198.5(CHKB):c.6G>A (p.Ala2=)
|
rs927716556
|
0.00001
|
NM_005198.5(CHKB):c.6G>T (p.Ala2=)
|
rs927716556
|
0.00001
|
NM_005198.5(CHKB):c.815A>G (p.Tyr272Cys)
|
rs1028826818
|
0.00001
|
NM_005198.5(CHKB):c.843T>C (p.Phe281=)
|
rs760833908
|
0.00001
|
NM_005198.5(CHKB):c.927+8G>A
|
rs1442580544
|
0.00001
|
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys)
|
rs200919604
|
0.00001
|
NM_005198.5(CHKB):c.941G>A (p.Arg314His)
|
rs577953900
|
0.00001
|
NM_005198.5(CHKB):c.961A>G (p.Lys321Glu)
|
rs143218928
|
0.00001
|
NM_005572.3(LMNA):c.-210T>C
|
rs886045356
|
0.00001
|
NM_005572.4(LMNA):c.1715G>A (p.Arg572His)
|
rs1158300738
|
0.00001
|
NM_005868.6(BET1):c.152T>G (p.Ile51Ser)
|
rs372513869
|
0.00001
|
NM_006876.3(B4GAT1):c.1009A>T (p.Thr337Ser)
|
rs1555016408
|
0.00001
|
NM_006876.3(B4GAT1):c.1090G>A (p.Glu364Lys)
|
rs765579855
|
0.00001
|
NM_006876.3(B4GAT1):c.1136C>G (p.Ala379Gly)
|
rs1012499887
|
0.00001
|
NM_006876.3(B4GAT1):c.1242C>T (p.Arg414=)
|
rs754397014
|
0.00001
|
NM_006876.3(B4GAT1):c.128A>G (p.Asp43Gly)
|
rs1249218517
|
0.00001
|
NM_006876.3(B4GAT1):c.144C>A (p.Phe48Leu)
|
rs756392214
|
0.00001
|
NM_006876.3(B4GAT1):c.186G>A (p.Gln62=)
|
rs1196515362
|
0.00001
|
NM_006876.3(B4GAT1):c.192C>G (p.Arg64=)
|
rs1172561316
|
0.00001
|
NM_006876.3(B4GAT1):c.204C>T (p.Ala68=)
|
rs1200054256
|
0.00001
|
NM_006876.3(B4GAT1):c.210A>T (p.Gly70=)
|
rs1213999550
|
0.00001
|
NM_006876.3(B4GAT1):c.220G>A (p.Asp74Asn)
|
rs746966446
|
0.00001
|
NM_006876.3(B4GAT1):c.223G>A (p.Ala75Thr)
|
rs1465193578
|
0.00001
|
NM_006876.3(B4GAT1):c.226A>G (p.Ser76Gly)
|
rs1085307691
|
0.00001
|
NM_006876.3(B4GAT1):c.278A>G (p.Asn93Ser)
|
rs1332907515
|
0.00001
|
NM_006876.3(B4GAT1):c.289C>T (p.Leu97=)
|
rs1412219970
|
0.00001
|
NM_006876.3(B4GAT1):c.363C>T (p.Ser121=)
|
rs947725699
|
0.00001
|
NM_006876.3(B4GAT1):c.36C>T (p.Tyr12=)
|
rs571265305
|
0.00001
|
NM_006876.3(B4GAT1):c.37C>T (p.Gln13Ter)
|
rs767082700
|
0.00001
|
NM_006876.3(B4GAT1):c.468C>T (p.His156=)
|
rs1163014613
|
0.00001
|
NM_006876.3(B4GAT1):c.478C>G (p.Pro160Ala)
|
rs1188034363
|
0.00001
|
NM_006876.3(B4GAT1):c.511C>A (p.Arg171=)
|
rs750370418
|
0.00001
|
NM_006876.3(B4GAT1):c.586G>T (p.Gly196Trp)
|
rs560639654
|
0.00001
|
NM_006876.3(B4GAT1):c.601C>T (p.Leu201=)
|
rs750284280
|
0.00001
|
NM_006876.3(B4GAT1):c.665A>G (p.Tyr222Cys)
|
rs113570160
|
0.00001
|
NM_006876.3(B4GAT1):c.667G>A (p.Ala223Thr)
|
rs1855225079
|
0.00001
|
NM_006876.3(B4GAT1):c.76C>A (p.Gln26Lys)
|
rs762690431
|
0.00001
|
NM_006876.3(B4GAT1):c.772C>G (p.Pro258Ala)
|
rs201440245
|
0.00001
|
NM_006876.3(B4GAT1):c.780C>T (p.Phe260=)
|
rs1319732212
|
0.00001
|
NM_006876.3(B4GAT1):c.842T>G (p.Val281Gly)
|
rs1449152242
|
0.00001
|
NM_006876.3(B4GAT1):c.861C>T (p.Phe287=)
|
rs1296863347
|
0.00001
|
NM_006876.3(B4GAT1):c.897C>G (p.Thr299=)
|
rs1356572423
|
0.00001
|
NM_006876.3(B4GAT1):c.952G>A (p.Val318Met)
|
rs1008736415
|
0.00001
|
NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu)
|
rs368961025
|
0.00001
|
NM_006876.3(B4GAT1):c.994G>A (p.Gly332Arg)
|
rs775935595
|
0.00001
|
NM_013382.7(POMT2):c.*1285T>C
|
rs886050815
|
0.00001
|
NM_013382.7(POMT2):c.*1579C>A
|
rs780717261
|
0.00001
|
NM_013382.7(POMT2):c.*2381A>G
|
rs993351501
|
0.00001
|
NM_013382.7(POMT2):c.*316C>G
|
rs1460121683
|
0.00001
|
NM_013382.7(POMT2):c.*597C>T
|
rs886050820
|
0.00001
|
NM_013382.7(POMT2):c.101C>T (p.Ala34Val)
|
rs768585252
|
0.00001
|
NM_013382.7(POMT2):c.1033G>C (p.Val345Leu)
|
rs779053591
|
0.00001
|
NM_013382.7(POMT2):c.1042C>G (p.Leu348Val)
|
rs1158227625
|
0.00001
|
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)
|
rs267606970
|
0.00001
|
NM_013382.7(POMT2):c.1061A>C (p.Tyr354Ser)
|
rs751206357
|
0.00001
|
NM_013382.7(POMT2):c.1080C>T (p.His360=)
|
rs776866129
|
0.00001
|
NM_013382.7(POMT2):c.1116+4A>G
|
rs779844724
|
0.00001
|
NM_013382.7(POMT2):c.1183+6G>C
|
rs1381239018
|
0.00001
|
NM_013382.7(POMT2):c.1184-14T>C
|
rs199871120
|
0.00001
|
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser)
|
rs764723711
|
0.00001
|
NM_013382.7(POMT2):c.1229A>T (p.Asp410Val)
|
rs886043224
|
0.00001
|
NM_013382.7(POMT2):c.1237C>T (p.Arg413Ter)
|
rs773017813
|
0.00001
|
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)
|
rs190285831
|
0.00001
|
NM_013382.7(POMT2):c.1253+1G>A
|
rs1475161693
|
0.00001
|
NM_013382.7(POMT2):c.1254-7C>T
|
rs753987994
|
0.00001
|
NM_013382.7(POMT2):c.125C>T (p.Pro42Leu)
|
rs912884835
|
0.00001
|
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr)
|
rs774466835
|
0.00001
|
NM_013382.7(POMT2):c.1332+14G>A
|
rs750144868
|
0.00001
|
NM_013382.7(POMT2):c.1332+4A>G
|
rs1201960470
|
0.00001
|
NM_013382.7(POMT2):c.1407G>T (p.Val469=)
|
rs886042679
|
0.00001
|
NM_013382.7(POMT2):c.1410G>A (p.Leu470=)
|
rs1890394018
|
0.00001
|
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter)
|
rs368817785
|
0.00001
|
NM_013382.7(POMT2):c.1418G>A (p.Arg473Gln)
|
rs1279458453
|
0.00001
|
NM_013382.7(POMT2):c.1424G>A (p.Arg475His)
|
rs200976246
|
0.00001
|
NM_013382.7(POMT2):c.1433A>G (p.His478Arg)
|
rs765346043
|
0.00001
|
NM_013382.7(POMT2):c.1451T>C (p.Val484Ala)
|
rs761917543
|
0.00001
|
NM_013382.7(POMT2):c.1484+14G>A
|
rs1263576526
|
0.00001
|
NM_013382.7(POMT2):c.1484+9C>G
|
rs760349322
|
0.00001
|
NM_013382.7(POMT2):c.1485-2_1485-1del
|
rs1185491348
|
0.00001
|
NM_013382.7(POMT2):c.1497G>C (p.Gln499His)
|
rs141248257
|
0.00001
|
NM_013382.7(POMT2):c.1512C>T (p.Cys504=)
|
rs775728269
|
0.00001
|
NM_013382.7(POMT2):c.1518A>G (p.Pro506=)
|
rs1380319239
|
0.00001
|
NM_013382.7(POMT2):c.1528G>A (p.Glu510Lys)
|
rs186872560
|
0.00001
|
NM_013382.7(POMT2):c.1609A>G (p.Ser537Gly)
|
rs1340953706
|
0.00001
|
NM_013382.7(POMT2):c.1659C>T (p.Asn553=)
|
rs534663839
|
0.00001
|
NM_013382.7(POMT2):c.1667T>C (p.Leu556Pro)
|
rs1890178559
|
0.00001
|
NM_013382.7(POMT2):c.1681A>G (p.Asn561Asp)
|
rs1006561976
|
0.00001
|
NM_013382.7(POMT2):c.1726-15G>C
|
rs1057524013
|
0.00001
|
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter)
|
rs766169193
|
0.00001
|
NM_013382.7(POMT2):c.1769A>G (p.Tyr590Cys)
|
rs1566644163
|
0.00001
|
NM_013382.7(POMT2):c.177C>T (p.Ala59=)
|
rs761956817
|
0.00001
|
NM_013382.7(POMT2):c.1786-8C>T
|
rs953851097
|
0.00001
|
NM_013382.7(POMT2):c.1790T>C (p.Val597Ala)
|
rs1171196217
|
0.00001
|
NM_013382.7(POMT2):c.181C>T (p.Leu61=)
|
rs774150334
|
0.00001
|
NM_013382.7(POMT2):c.1824C>T (p.Tyr608=)
|
rs759220971
|
0.00001
|
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp)
|
rs749335757
|
0.00001
|
NM_013382.7(POMT2):c.1873C>T (p.Leu625=)
|
rs1393855564
|
0.00001
|
NM_013382.7(POMT2):c.1877C>T (p.Pro626Leu)
|
rs1262591820
|
0.00001
|
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)
|
rs119463989
|
0.00001
|
NM_013382.7(POMT2):c.1959G>A (p.Pro653=)
|
rs775222771
|
0.00001
|
NM_013382.7(POMT2):c.1961T>G (p.Phe654Cys)
|
rs769782374
|
0.00001
|
NM_013382.7(POMT2):c.196C>T (p.Leu66=)
|
rs528060377
|
0.00001
|
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp)
|
rs372939905
|
0.00001
|
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln)
|
rs770606360
|
0.00001
|
NM_013382.7(POMT2):c.2011C>T (p.Leu671Phe)
|
rs200079313
|
0.00001
|
NM_013382.7(POMT2):c.2032+19G>A
|
rs1300533131
|
0.00001
|
NM_013382.7(POMT2):c.2033-20G>A
|
rs1057524128
|
0.00001
|
NM_013382.7(POMT2):c.2046C>T (p.Asp682=)
|
rs746369367
|
0.00001
|
NM_013382.7(POMT2):c.2087C>T (p.Pro696Leu)
|
rs1449000965
|
0.00001
|
NM_013382.7(POMT2):c.209C>T (p.Ala70Val)
|
rs1891834567
|
0.00001
|
NM_013382.7(POMT2):c.20G>A (p.Gly7Glu)
|
rs763325075
|
0.00001
|
NM_013382.7(POMT2):c.2100C>A (p.Gly700=)
|
rs905496812
|
0.00001
|
NM_013382.7(POMT2):c.2108T>C (p.Val703Ala)
|
rs770189006
|
0.00001
|
NM_013382.7(POMT2):c.2111C>T (p.Ala704Val)
|
rs746221148
|
0.00001
|
NM_013382.7(POMT2):c.2116A>G (p.Ile706Val)
|
rs1352547589
|
0.00001
|
NM_013382.7(POMT2):c.2147+5G>C
|
rs1360206873
|
0.00001
|
NM_013382.7(POMT2):c.2147+7A>C
|
rs1472805344
|
0.00001
|
NM_013382.7(POMT2):c.2147+9C>T
|
rs1253447533
|
0.00001
|
NM_013382.7(POMT2):c.216C>T (p.Arg72=)
|
rs1891833559
|
0.00001
|
NM_013382.7(POMT2):c.2171C>T (p.Ala724Val)
|
rs1413994990
|
0.00001
|
NM_013382.7(POMT2):c.2176G>A (p.Gly726Arg)
|
rs1471500386
|
0.00001
|
NM_013382.7(POMT2):c.224G>A (p.Arg75His)
|
rs1200964688
|
0.00001
|
NM_013382.7(POMT2):c.2250T>C (p.Phe750=)
|
rs1890006083
|
0.00001
|
NM_013382.7(POMT2):c.227T>C (p.Leu76Ser)
|
rs1349494437
|
0.00001
|
NM_013382.7(POMT2):c.240G>A (p.Pro80=)
|
rs1346021636
|
0.00001
|
NM_013382.7(POMT2):c.244A>T (p.Ile82Phe)
|
rs373944477
|
0.00001
|
NM_013382.7(POMT2):c.245T>A (p.Ile82Asn)
|
rs563863191
|
0.00001
|
NM_013382.7(POMT2):c.248+1G>C
|
rs961440747
|
0.00001
|
NM_013382.7(POMT2):c.248+2T>C
|
rs1326631351
|
0.00001
|
NM_013382.7(POMT2):c.258G>A (p.Glu86=)
|
rs956763108
|
0.00001
|
NM_013382.7(POMT2):c.25C>G (p.Leu9Val)
|
rs1280735533
|
0.00001
|
NM_013382.7(POMT2):c.275T>C (p.Met92Thr)
|
rs775489616
|
0.00001
|
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)
|
rs199719668
|
0.00001
|
NM_013382.7(POMT2):c.311A>T (p.Asp104Val)
|
rs1891449262
|
0.00001
|
NM_013382.7(POMT2):c.37G>A (p.Glu13Lys)
|
rs747244194
|
0.00001
|
NM_013382.7(POMT2):c.439-9C>T
|
rs777960032
|
0.00001
|
NM_013382.7(POMT2):c.47C>G (p.Pro16Arg)
|
rs778898705
|
0.00001
|
NM_013382.7(POMT2):c.480C>T (p.Tyr160=)
|
rs1202494830
|
0.00001
|
NM_013382.7(POMT2):c.485C>T (p.Thr162Ile)
|
rs753521608
|
0.00001
|
NM_013382.7(POMT2):c.486T>C (p.Thr162=)
|
rs766222032
|
0.00001
|
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro)
|
rs753326186
|
0.00001
|
NM_013382.7(POMT2):c.547+17A>G
|
rs1485846490
|
0.00001
|
NM_013382.7(POMT2):c.548-12C>T
|
rs773717014
|
0.00001
|
NM_013382.7(POMT2):c.593T>A (p.Ile198Asn)
|
rs267606972
|
0.00001
|
NM_013382.7(POMT2):c.613G>A (p.Ala205Thr)
|
rs886043765
|
0.00001
|
NM_013382.7(POMT2):c.629T>C (p.Met210Thr)
|
rs369654108
|
0.00001
|
NM_013382.7(POMT2):c.636G>A (p.Lys212=)
|
rs368906346
|
0.00001
|
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter)
|
rs764878423
|
0.00001
|
NM_013382.7(POMT2):c.651C>T (p.Ala217=)
|
rs147845081
|
0.00001
|
NM_013382.7(POMT2):c.660C>T (p.Pro220=)
|
rs1377744438
|
0.00001
|
NM_013382.7(POMT2):c.661T>A (p.Phe221Ile)
|
rs746803006
|
0.00001
|
NM_013382.7(POMT2):c.671C>G (p.Pro224Arg)
|
rs771995900
|
0.00001
|
NM_013382.7(POMT2):c.685C>T (p.Leu229Phe)
|
rs754512099
|
0.00001
|
NM_013382.7(POMT2):c.699C>T (p.Gly233=)
|
rs375257656
|
0.00001
|
NM_013382.7(POMT2):c.69C>T (p.Pro23=)
|
rs527728447
|
0.00001
|
NM_013382.7(POMT2):c.756A>G (p.Gln252=)
|
rs766529891
|
0.00001
|
NM_013382.7(POMT2):c.762G>T (p.Gly254=)
|
rs1457542706
|
0.00001
|
NM_013382.7(POMT2):c.774T>C (p.Ile258=)
|
rs748022643
|
0.00001
|
NM_013382.7(POMT2):c.816+13G>A
|
rs1283872799
|
0.00001
|
NM_013382.7(POMT2):c.825G>A (p.Val275=)
|
rs779272258
|
0.00001
|
NM_013382.7(POMT2):c.845G>A (p.Arg282His)
|
rs756132642
|
0.00001
|
NM_013382.7(POMT2):c.84C>T (p.Ala28=)
|
rs771031903
|
0.00001
|
NM_013382.7(POMT2):c.890C>T (p.Thr297Ile)
|
rs775548781
|
0.00001
|
NM_013382.7(POMT2):c.891C>A (p.Thr297=)
|
rs769829396
|
0.00001
|
NM_013382.7(POMT2):c.924-5C>G
|
rs570851802
|
0.00001
|
NM_013382.7(POMT2):c.924-6C>T
|
rs764462802
|
0.00001
|
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter)
|
rs775932206
|
0.00001
|
NM_013382.7(POMT2):c.961G>A (p.Ala321Thr)
|
rs770147545
|
0.00001
|
NM_013403.3(STRN4):c.282+55T>C
|
rs2054592600
|
0.00001
|
NM_014254.3(RXYLT1):c.1018C>T (p.Arg340Ter)
|
rs397514695
|
0.00001
|
NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs)
|
rs397514545
|
0.00001
|
NM_014254.3(RXYLT1):c.1332A>C (p.Ter444Tyr)
|
rs922693472
|
0.00001
|
NM_014254.3(RXYLT1):c.325+1G>T
|
rs1592838547
|
0.00001
|
NM_014254.3(RXYLT1):c.429-2A>G
|
rs199605239
|
0.00001
|
NM_014254.3(RXYLT1):c.795del (p.Arg266fs)
|
rs397514543
|
0.00001
|
NM_014254.3(RXYLT1):c.914+6T>G
|
rs748809209
|
0.00001
|
NM_016532.4(INPP5K):c.418G>A (p.Gly140Ser)
|
rs749383757
|
0.00001
|
NM_016532.4(INPP5K):c.67G>A (p.Val23Met)
|
rs750781027
|
0.00001
|
NM_016532.4(INPP5K):c.805G>A (p.Asp269Asn)
|
rs761612652
|
0.00001
|
NM_017739.4(POMGNT1):c.*30_*33del
|
rs1553162554
|
0.00001
|
NM_017739.4(POMGNT1):c.*404_*405dup
|
rs940315351
|
0.00001
|
NM_017739.4(POMGNT1):c.-64G>A
|
rs927602645
|
0.00001
|
NM_017739.4(POMGNT1):c.1000A>G (p.Thr334Ala)
|
rs1267806554
|
0.00001
|
NM_017739.4(POMGNT1):c.1005T>A (p.Val335=)
|
rs749046557
|
0.00001
|
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)
|
rs138745073
|
0.00001
|
NM_017739.4(POMGNT1):c.1027-7C>T
|
rs1230573613
|
0.00001
|
NM_017739.4(POMGNT1):c.105G>A (p.Leu35=)
|
rs1411611657
|
0.00001
|
NM_017739.4(POMGNT1):c.1074T>C (p.His358=)
|
rs1274829970
|
0.00001
|
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln)
|
rs768700187
|
0.00001
|
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)
|
rs762972459
|
0.00001
|
NM_017739.4(POMGNT1):c.1102G>A (p.Val368Met)
|
rs1332597566
|
0.00001
|
NM_017739.4(POMGNT1):c.110G>T (p.Arg37Ile)
|
rs144746222
|
0.00001
|
NM_017739.4(POMGNT1):c.1110+1G>A
|
rs1657940058
|
0.00001
|
NM_017739.4(POMGNT1):c.1110+20G>C
|
rs370151630
|
0.00001
|
NM_017739.4(POMGNT1):c.1110+7C>T
|
rs769481215
|
0.00001
|
NM_017739.4(POMGNT1):c.1110+9T>C
|
rs1553163359
|
0.00001
|
NM_017739.4(POMGNT1):c.1111-12C>A
|
rs369760788
|
0.00001
|
NM_017739.4(POMGNT1):c.1151C>T (p.Pro384Leu)
|
rs375845761
|
0.00001
|
NM_017739.4(POMGNT1):c.1152+2T>C
|
rs1553163335
|
0.00001
|
NM_017739.4(POMGNT1):c.1152G>A (p.Pro384=)
|
rs760312462
|
0.00001
|
NM_017739.4(POMGNT1):c.1157C>T (p.Ala386Val)
|
rs778179887
|
0.00001
|
NM_017739.4(POMGNT1):c.1167T>C (p.Ala389=)
|
rs183698543
|
0.00001
|
NM_017739.4(POMGNT1):c.1192A>G (p.Ile398Val)
|
rs1460430901
|
0.00001
|
NM_017739.4(POMGNT1):c.1198G>C (p.Val400Leu)
|
rs749863346
|
0.00001
|
NM_017739.4(POMGNT1):c.120+10T>A
|
rs1658352895
|
0.00001
|
NM_017739.4(POMGNT1):c.120+6G>C
|
rs1344774466
|
0.00001
|
NM_017739.4(POMGNT1):c.121-10C>T
|
rs748734868
|
0.00001
|
NM_017739.4(POMGNT1):c.1211+8G>C
|
rs766253288
|
0.00001
|
NM_017739.4(POMGNT1):c.1212-4T>G
|
rs778941358
|
0.00001
|
NM_017739.4(POMGNT1):c.1218G>A (p.Leu406=)
|
rs1211823122
|
0.00001
|
NM_017739.4(POMGNT1):c.1236A>G (p.Leu412=)
|
rs780965440
|
0.00001
|
NM_017739.4(POMGNT1):c.1248T>C (p.Asp416=)
|
rs756939646
|
0.00001
|
NM_017739.4(POMGNT1):c.1269T>G (p.Ser423=)
|
rs763604454
|
0.00001
|
NM_017739.4(POMGNT1):c.126G>A (p.Gly42=)
|
rs374480891
|
0.00001
|
NM_017739.4(POMGNT1):c.1284+5G>T
|
rs1257224073
|
0.00001
|
NM_017739.4(POMGNT1):c.1287G>C (p.Gly429=)
|
rs1263918453
|
0.00001
|
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)
|
rs150877512
|
0.00001
|
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)
|
rs386834014
|
0.00001
|
NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=)
|
rs774554415
|
0.00001
|
NM_017739.4(POMGNT1):c.1377G>A (p.Lys459=)
|
rs768983994
|
0.00001
|
NM_017739.4(POMGNT1):c.137T>C (p.Phe46Ser)
|
rs1314508009
|
0.00001
|
NM_017739.4(POMGNT1):c.1380G>A (p.Glu460=)
|
rs1167749728
|
0.00001
|
NM_017739.4(POMGNT1):c.1407G>A (p.Pro469=)
|
rs375039269
|
0.00001
|
NM_017739.4(POMGNT1):c.1409A>G (p.Glu470Gly)
|
rs781221088
|
0.00001
|
NM_017739.4(POMGNT1):c.1413+12G>T
|
rs1339833158
|
0.00001
|
NM_017739.4(POMGNT1):c.1413+7G>A
|
rs372521038
|
0.00001
|
NM_017739.4(POMGNT1):c.1414-16G>T
|
rs773143031
|
0.00001
|
NM_017739.4(POMGNT1):c.1438C>T (p.Arg480Trp)
|
rs1011150724
|
0.00001
|
NM_017739.4(POMGNT1):c.1439G>A (p.Arg480Gln)
|
rs779428703
|
0.00001
|
NM_017739.4(POMGNT1):c.1458G>A (p.Arg486=)
|
rs765493853
|
0.00001
|
NM_017739.4(POMGNT1):c.1470C>T (p.Cys490=)
|
rs772100590
|
0.00001
|
NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=)
|
rs769213562
|
0.00001
|
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)
|
rs745343484
|
0.00001
|
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln)
|
rs573518562
|
0.00001
|
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)
|
rs760705290
|
0.00001
|
NM_017739.4(POMGNT1):c.1521C>T (p.Asn507=)
|
rs767617711
|
0.00001
|
NM_017739.4(POMGNT1):c.1539+9G>A
|
rs775040861
|
0.00001
|
NM_017739.4(POMGNT1):c.1560C>T (p.His520=)
|
rs1057521878
|
0.00001
|
NM_017739.4(POMGNT1):c.1561A>G (p.Lys521Glu)
|
rs764394085
|
0.00001
|
NM_017739.4(POMGNT1):c.1572G>A (p.Thr524=)
|
rs201897676
|
0.00001
|
NM_017739.4(POMGNT1):c.157G>A (p.Val53Ile)
|
rs766383336
|
0.00001
|
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)
|
rs200730202
|
0.00001
|
NM_017739.4(POMGNT1):c.1605-12C>A
|
rs1255591571
|
0.00001
|
NM_017739.4(POMGNT1):c.1605-1G>C
|
rs770219373
|
0.00001
|
NM_017739.4(POMGNT1):c.1605-9C>T
|
rs368345562
|
0.00001
|
NM_017739.4(POMGNT1):c.160A>G (p.Asn54Asp)
|
rs546654268
|
0.00001
|
NM_017739.4(POMGNT1):c.1632A>C (p.Glu544Asp)
|
rs149482430
|
0.00001
|
NM_017739.4(POMGNT1):c.1647C>T (p.Leu549=)
|
rs777907605
|
0.00001
|
NM_017739.4(POMGNT1):c.1650-10T>C
|
rs753698616
|
0.00001
|
NM_017739.4(POMGNT1):c.1669C>A (p.His557Asn)
|
rs761426941
|
0.00001
|
NM_017739.4(POMGNT1):c.168G>A (p.Lys56=)
|
rs539988776
|
0.00001
|
NM_017739.4(POMGNT1):c.1707C>T (p.Asp569=)
|
rs1206240703
|
0.00001
|
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile)
|
rs556069604
|
0.00001
|
NM_017739.4(POMGNT1):c.1725C>T (p.Tyr575=)
|
rs1657618143
|
0.00001
|
NM_017739.4(POMGNT1):c.172A>G (p.Ile58Val)
|
rs886044042
|
0.00001
|
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)
|
rs386834018
|
0.00001
|
NM_017739.4(POMGNT1):c.1773C>T (p.Thr591=)
|
rs755936993
|
0.00001
|
NM_017739.4(POMGNT1):c.1780G>T (p.Ala594Ser)
|
rs749960797
|
0.00001
|
NM_017739.4(POMGNT1):c.1786-17C>T
|
rs1209878503
|
0.00001
|
NM_017739.4(POMGNT1):c.1786-9C>T
|
rs961913683
|
0.00001
|
NM_017739.4(POMGNT1):c.1813C>T (p.Arg605Cys)
|
rs886044567
|
0.00001
|
NM_017739.4(POMGNT1):c.181A>G (p.Thr61Ala)
|
rs768245322
|
0.00001
|
NM_017739.4(POMGNT1):c.1847G>A (p.Arg616Gln)
|
rs775534917
|
0.00001
|
NM_017739.4(POMGNT1):c.1865T>C (p.Leu622Pro)
|
rs377170894
|
0.00001
|
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)
|
rs193919337
|
0.00001
|
NM_017739.4(POMGNT1):c.1880C>T (p.Pro627Leu)
|
rs200143169
|
0.00001
|
NM_017739.4(POMGNT1):c.1906C>T (p.Pro636Ser)
|
rs771922809
|
0.00001
|
NM_017739.4(POMGNT1):c.1910C>T (p.Pro637Leu)
|
rs1467007123
|
0.00001
|
NM_017739.4(POMGNT1):c.1911C>G (p.Pro637=)
|
rs747815387
|
0.00001
|
NM_017739.4(POMGNT1):c.1923A>C (p.Pro641=)
|
rs886043958
|
0.00001
|
NM_017739.4(POMGNT1):c.192C>T (p.Ala64=)
|
rs373686838
|
0.00001
|
NM_017739.4(POMGNT1):c.1953G>A (p.Glu651=)
|
rs1210887374
|
0.00001
|
NM_017739.4(POMGNT1):c.1975C>T (p.Gln659Ter)
|
rs766290773
|
0.00001
|
NM_017739.4(POMGNT1):c.213C>T (p.Asp71=)
|
rs909246508
|
0.00001
|
NM_017739.4(POMGNT1):c.236-1G>T
|
rs1057516477
|
0.00001
|
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys)
|
rs1238403887
|
0.00001
|
NM_017739.4(POMGNT1):c.255G>A (p.Leu85=)
|
rs754111936
|
0.00001
|
NM_017739.4(POMGNT1):c.264A>G (p.Pro88=)
|
rs1557677974
|
0.00001
|
NM_017739.4(POMGNT1):c.304G>A (p.Glu102Lys)
|
rs749603354
|
0.00001
|
NM_017739.4(POMGNT1):c.313T>C (p.Ser105Pro)
|
rs780158040
|
0.00001
|
NM_017739.4(POMGNT1):c.325A>G (p.Lys109Glu)
|
rs1459243404
|
0.00001
|
NM_017739.4(POMGNT1):c.330A>G (p.Val110=)
|
rs1658269711
|
0.00001
|
NM_017739.4(POMGNT1):c.355-6G>C
|
rs754657039
|
0.00001
|
NM_017739.4(POMGNT1):c.358C>G (p.Leu120Val)
|
rs373016708
|
0.00001
|
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)
|
rs375431575
|
0.00001
|
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln)
|
rs770188918
|
0.00001
|
NM_017739.4(POMGNT1):c.399C>T (p.Val133=)
|
rs776851436
|
0.00001
|
NM_017739.4(POMGNT1):c.405C>T (p.Val135=)
|
rs777809507
|
0.00001
|
NM_017739.4(POMGNT1):c.418A>G (p.Thr140Ala)
|
rs886042796
|
0.00001
|
NM_017739.4(POMGNT1):c.420+11A>C
|
rs564933024
|
0.00001
|
NM_017739.4(POMGNT1):c.420+12G>C
|
rs907290682
|
0.00001
|
NM_017739.4(POMGNT1):c.421-20A>G
|
rs1010666552
|
0.00001
|
NM_017739.4(POMGNT1):c.421-8C>T
|
rs778935754
|
0.00001
|
NM_017739.4(POMGNT1):c.439C>T (p.Arg147Cys)
|
rs780641373
|
0.00001
|
NM_017739.4(POMGNT1):c.442G>T (p.Val148Leu)
|
rs770366321
|
0.00001
|
NM_017739.4(POMGNT1):c.452C>T (p.Thr151Met)
|
rs886044363
|
0.00001
|
NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter)
|
rs1048865247
|
0.00001
|
NM_017739.4(POMGNT1):c.478A>G (p.Met160Val)
|
rs1355389149
|
0.00001
|
NM_017739.4(POMGNT1):c.503C>T (p.Ala168Val)
|
rs200643988
|
0.00001
|
NM_017739.4(POMGNT1):c.504G>A (p.Ala168=)
|
rs761978964
|
0.00001
|
NM_017739.4(POMGNT1):c.534+13G>C
|
rs373313076
|
0.00001
|
NM_017739.4(POMGNT1):c.534+16C>T
|
rs780919869
|
0.00001
|
NM_017739.4(POMGNT1):c.535-14C>G
|
rs778926136
|
0.00001
|
NM_017739.4(POMGNT1):c.553C>G (p.Leu185Val)
|
rs757919524
|
0.00001
|
NM_017739.4(POMGNT1):c.562A>G (p.Thr188Ala)
|
rs868433749
|
0.00001
|
NM_017739.4(POMGNT1):c.579G>A (p.Leu193=)
|
rs747612249
|
0.00001
|
NM_017739.4(POMGNT1):c.588G>A (p.Leu196=)
|
rs750844260
|
0.00001
|
NM_017739.4(POMGNT1):c.633C>T (p.Ala211=)
|
rs765314886
|
0.00001
|
NM_017739.4(POMGNT1):c.637G>A (p.Val213Met)
|
rs1239939744
|
0.00001
|
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
|
rs386834034
|
0.00001
|
NM_017739.4(POMGNT1):c.652+1G>T
|
rs386834035
|
0.00001
|
NM_017739.4(POMGNT1):c.652+5C>T
|
rs771669680
|
0.00001
|
NM_017739.4(POMGNT1):c.653-10C>T
|
rs1658075924
|
0.00001
|
NM_017739.4(POMGNT1):c.653-12G>C
|
rs1258635883
|
0.00001
|
NM_017739.4(POMGNT1):c.677C>T (p.Ser226Phe)
|
rs147938876
|
0.00001
|
NM_017739.4(POMGNT1):c.691C>G (p.Leu231Val)
|
rs771429702
|
0.00001
|
NM_017739.4(POMGNT1):c.712G>C (p.Val238Leu)
|
rs755032396
|
0.00001
|
NM_017739.4(POMGNT1):c.735A>G (p.Pro245=)
|
rs139266745
|
0.00001
|
NM_017739.4(POMGNT1):c.751+1G>A
|
rs1247668825
|
0.00001
|
NM_017739.4(POMGNT1):c.751+4G>C
|
rs768307488
|
0.00001
|
NM_017739.4(POMGNT1):c.752-10C>T
|
rs1470088795
|
0.00001
|
NM_017739.4(POMGNT1):c.752-16C>T
|
rs376149012
|
0.00001
|
NM_017739.4(POMGNT1):c.758A>T (p.Glu253Val)
|
rs886043972
|
0.00001
|
NM_017739.4(POMGNT1):c.790C>T (p.Arg264Cys)
|
rs369306680
|
0.00001
|
NM_017739.4(POMGNT1):c.791G>A (p.Arg264His)
|
rs748559972
|
0.00001
|
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys)
|
rs774752168
|
0.00001
|
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)
|
rs148131756
|
0.00001
|
NM_017739.4(POMGNT1):c.807C>T (p.Cys269=)
|
rs1285062976
|
0.00001
|
NM_017739.4(POMGNT1):c.813A>C (p.Lys271Asn)
|
rs757156888
|
0.00001
|
NM_017739.4(POMGNT1):c.824A>G (p.Tyr275Cys)
|
rs200789546
|
0.00001
|
NM_017739.4(POMGNT1):c.825T>C (p.Tyr275=)
|
rs1398706831
|
0.00001
|
NM_017739.4(POMGNT1):c.834A>G (p.Val278=)
|
rs1299228802
|
0.00001
|
NM_017739.4(POMGNT1):c.861C>T (p.Ile287=)
|
rs764747122
|
0.00001
|
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys)
|
rs1476814352
|
0.00001
|
NM_017739.4(POMGNT1):c.879+18A>G
|
rs1658029444
|
0.00001
|
NM_017739.4(POMGNT1):c.87G>A (p.Leu29=)
|
rs794727291
|
0.00001
|
NM_017739.4(POMGNT1):c.880-4A>C
|
rs1553163534
|
0.00001
|
NM_017739.4(POMGNT1):c.880-5C>T
|
rs746970517
|
0.00001
|
NM_017739.4(POMGNT1):c.889A>G (p.Asn297Asp)
|
rs752393375
|
0.00001
|
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)
|
rs754653320
|
0.00001
|
NM_017739.4(POMGNT1):c.908C>T (p.Pro303Leu)
|
rs753453050
|
0.00001
|
NM_017739.4(POMGNT1):c.921T>G (p.Ile307Met)
|
rs71653997
|
0.00001
|
NM_017739.4(POMGNT1):c.924A>G (p.Ala308=)
|
rs202058059
|
0.00001
|
NM_017739.4(POMGNT1):c.926G>A (p.Gly309Glu)
|
rs752124301
|
0.00001
|
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)
|
rs386834039
|
0.00001
|
NM_017739.4(POMGNT1):c.951-9G>C
|
rs765581970
|
0.00001
|
NM_017739.4(POMGNT1):c.959G>A (p.Arg320His)
|
rs368653589
|
0.00001
|
NM_017739.4(POMGNT1):c.959G>T (p.Arg320Leu)
|
rs368653589
|
0.00001
|
NM_017739.4(POMGNT1):c.979G>A (p.Gly327Arg)
|
rs1306444778
|
0.00001
|
NM_017739.4(POMGNT1):c.988C>T (p.Pro330Ser)
|
rs748027760
|
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.1082A>G (p.Tyr361Cys)
|
rs749968347
|
0.00001
|
NM_020451.3(SELENON):c.1092+7G>A
|
rs367908571
|
0.00001
|
NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter)
|
rs794727976
|
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.1358G>C (p.Trp453Ser)
|
rs121908186
|
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.446_447del (p.Pro149fs)
|
rs1192828749
|
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_021971.4(GMPPB):c.1014C>T (p.Leu338=)
|
rs756344903
|
0.00001
|
NM_021971.4(GMPPB):c.1027G>C (p.Val343Leu)
|
rs1409825474
|
0.00001
|
NM_021971.4(GMPPB):c.1050C>A (p.Gly350=)
|
rs746616705
|
0.00001
|
NM_021971.4(GMPPB):c.1070G>A (p.Arg357His)
|
rs771861177
|
0.00001
|
NM_021971.4(GMPPB):c.118G>C (p.Ala40Pro)
|
rs1445731992
|
0.00001
|
NM_021971.4(GMPPB):c.130-13T>C
|
rs756852893
|
0.00001
|
NM_021971.4(GMPPB):c.130-6T>G
|
rs369862012
|
0.00001
|
NM_021971.4(GMPPB):c.210+9C>T
|
rs775118468
|
0.00001
|
NM_021971.4(GMPPB):c.210G>A (p.Arg70=)
|
rs201795833
|
0.00001
|
NM_021971.4(GMPPB):c.211-20G>C
|
rs1341824987
|
0.00001
|
NM_021971.4(GMPPB):c.215G>C (p.Gly72Ala)
|
rs1245162935
|
0.00001
|
NM_021971.4(GMPPB):c.240A>G (p.Glu80=)
|
rs1292996433
|
0.00001
|
NM_021971.4(GMPPB):c.294dup (p.Glu99Ter)
|
rs1365085828
|
0.00001
|
NM_021971.4(GMPPB):c.300T>C (p.Thr100=)
|
rs1269383125
|
0.00001
|
NM_021971.4(GMPPB):c.356C>A (p.Ala119Asp)
|
rs1272084445
|
0.00001
|
NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys)
|
rs145535498
|
0.00001
|
NM_021971.4(GMPPB):c.402+1G>A
|
rs145564018
|
0.00001
|
NM_021971.4(GMPPB):c.402+8G>A
|
rs374491667
|
0.00001
|
NM_021971.4(GMPPB):c.477C>T (p.Phe159=)
|
rs756215708
|
0.00001
|
NM_021971.4(GMPPB):c.478G>A (p.Val160Met)
|
rs752805529
|
0.00001
|
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)
|
rs397509425
|
0.00001
|
NM_021971.4(GMPPB):c.572C>T (p.Thr191Met)
|
rs146287156
|
0.00001
|
NM_021971.4(GMPPB):c.578T>C (p.Ile193Thr)
|
rs780301264
|
0.00001
|
NM_021971.4(GMPPB):c.596C>G (p.Pro199Arg)
|
rs765573379
|
0.00001
|
NM_021971.4(GMPPB):c.629T>C (p.Met210Thr)
|
rs759137392
|
0.00001
|
NM_021971.4(GMPPB):c.640+10G>C
|
rs769641702
|
0.00001
|
NM_021971.4(GMPPB):c.640+19A>G
|
rs1472999197
|
0.00001
|
NM_021971.4(GMPPB):c.672C>T (p.Asp224=)
|
rs1247769949
|
0.00001
|
NM_021971.4(GMPPB):c.6G>A (p.Lys2=)
|
rs1297069725
|
0.00001
|
NM_021971.4(GMPPB):c.70C>T (p.Pro24Ser)
|
rs1310563727
|
0.00001
|
NM_021971.4(GMPPB):c.728G>A (p.Arg243Gln)
|
rs749730219
|
0.00001
|
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys)
|
rs746357591
|
0.00001
|
NM_021971.4(GMPPB):c.801C>T (p.Ser267=)
|
rs752457623
|
0.00001
|
NM_021971.4(GMPPB):c.831C>T (p.Gly277=)
|
rs763262592
|
0.00001
|
NM_021971.4(GMPPB):c.870G>A (p.Thr290=)
|
rs778490288
|
0.00001
|
NM_021971.4(GMPPB):c.877C>T (p.Arg293Trp)
|
rs756682220
|
0.00001
|
NM_021971.4(GMPPB):c.910G>A (p.Glu304Lys)
|
rs762995747
|
0.00001
|
NM_021971.4(GMPPB):c.918C>T (p.Cys306=)
|
rs1186936513
|
0.00001
|
NM_021971.4(GMPPB):c.91A>G (p.Lys31Glu)
|
rs764625823
|
0.00001
|
NM_021971.4(GMPPB):c.938G>A (p.Arg313His)
|
rs775910135
|
0.00001
|
NM_021971.4(GMPPB):c.951+7C>A
|
rs973900671
|
0.00001
|
NM_021971.4(GMPPB):c.954A>G (p.Val318=)
|
rs747818187
|
0.00001
|
NM_021971.4(GMPPB):c.955C>T (p.Arg319Cys)
|
rs780867515
|
0.00001
|
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu)
|
rs397509426
|
0.00001
|
NM_021971.4(GMPPB):c.981T>C (p.Gly327=)
|
rs779167148
|
0.00001
|
NM_021971.4(GMPPB):c.982G>A (p.Glu328Lys)
|
rs1356812347
|
0.00001
|
NM_021971.4(GMPPB):c.987C>T (p.Asp329=)
|
rs541447888
|
0.00001
|
NM_024301.5(FKRP):c.1012G>C (p.Val338Leu)
|
rs1173430388
|
0.00001
|
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe)
|
rs1322997651
|
0.00001
|
NM_024301.5(FKRP):c.1032C>T (p.Gly344=)
|
rs767312918
|
0.00001
|
NM_024301.5(FKRP):c.1038A>G (p.Ser346=)
|
rs757201268
|
0.00001
|
NM_024301.5(FKRP):c.1050C>T (p.Ala350=)
|
rs1435046628
|
0.00001
|
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys)
|
rs751676482
|
0.00001
|
NM_024301.5(FKRP):c.1057C>T (p.His353Tyr)
|
rs1468465064
|
0.00001
|
NM_024301.5(FKRP):c.1060G>A (p.Gly354Arg)
|
rs565499116
|
0.00001
|
NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu)
|
rs781414509
|
0.00001
|
NM_024301.5(FKRP):c.106G>T (p.Ala36Ser)
|
rs1412050261
|
0.00001
|
NM_024301.5(FKRP):c.1082A>C (p.Tyr361Ser)
|
rs906664695
|
0.00001
|
NM_024301.5(FKRP):c.108C>T (p.Ala36=)
|
rs757482530
|
0.00001
|
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser)
|
rs1184684815
|
0.00001
|
NM_024301.5(FKRP):c.1134G>A (p.Leu378=)
|
rs1303195847
|
0.00001
|
NM_024301.5(FKRP):c.1137G>T (p.Arg379=)
|
rs761782258
|
0.00001
|
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu)
|
rs751586523
|
0.00001
|
NM_024301.5(FKRP):c.1158G>C (p.Val386=)
|
rs373719817
|
0.00001
|
NM_024301.5(FKRP):c.1160T>C (p.Val387Ala)
|
rs779577195
|
0.00001
|
NM_024301.5(FKRP):c.1167G>A (p.Glu389=)
|
rs771708277
|
0.00001
|
NM_024301.5(FKRP):c.1171G>C (p.Gly391Arg)
|
rs775201067
|
0.00001
|
NM_024301.5(FKRP):c.1174T>A (p.Phe392Ile)
|
rs1269819838
|
0.00001
|
NM_024301.5(FKRP):c.1176C>T (p.Phe392=)
|
rs768236258
|
0.00001
|
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val)
|
rs767570224
|
0.00001
|
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile)
|
rs1471167981
|
0.00001
|
NM_024301.5(FKRP):c.1197G>A (p.Glu399=)
|
rs2054933742
|
0.00001
|
NM_024301.5(FKRP):c.119G>A (p.Arg40His)
|
rs2054891509
|
0.00001
|
NM_024301.5(FKRP):c.125C>G (p.Ala42Gly)
|
rs768215450
|
0.00001
|
NM_024301.5(FKRP):c.1261T>C (p.Tyr421His)
|
rs1425956543
|
0.00001
|
NM_024301.5(FKRP):c.1263C>T (p.Tyr421=)
|
rs138350337
|
0.00001
|
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter)
|
rs772950604
|
0.00001
|
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser)
|
rs376989573
|
0.00001
|
NM_024301.5(FKRP):c.1316T>A (p.Val439Glu)
|
rs754002921
|
0.00001
|
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
|
rs104894681
|
0.00001
|
NM_024301.5(FKRP):c.1344G>T (p.Pro448=)
|
rs754446767
|
0.00001
|
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu)
|
rs886044542
|
0.00001
|
NM_024301.5(FKRP):c.1362T>C (p.Phe454=)
|
rs2054938348
|
0.00001
|
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)
|
rs747785577
|
0.00001
|
NM_024301.5(FKRP):c.1383G>T (p.Ala461=)
|
rs759585825
|
0.00001
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
NM_024301.5(FKRP):c.1397G>A (p.Arg466His)
|
rs763422045
|
0.00001
|
NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys)
|
rs752243337
|
0.00001
|
NM_024301.5(FKRP):c.1426G>A (p.Gly476Arg)
|
rs930285524
|
0.00001
|
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)
|
rs1301397800
|
0.00001
|
NM_024301.5(FKRP):c.1436A>G (p.Glu479Gly)
|
rs1555739297
|
0.00001
|
NM_024301.5(FKRP):c.1449C>T (p.Tyr483=)
|
rs772089991
|
0.00001
|
NM_024301.5(FKRP):c.1458G>A (p.Pro486=)
|
rs762008480
|
0.00001
|
NM_024301.5(FKRP):c.1465C>T (p.Leu489=)
|
rs112819526
|
0.00001
|
NM_024301.5(FKRP):c.1477G>A (p.Gly493Arg)
|
rs763299165
|
0.00001
|
NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg)
|
rs373244438
|
0.00001
|
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)
|
rs104894682
|
0.00001
|
NM_024301.5(FKRP):c.151G>A (p.Val51Ile)
|
rs769377092
|
0.00001
|
NM_024301.5(FKRP):c.172G>A (p.Ala58Thr)
|
rs751506122
|
0.00001
|
NM_024301.5(FKRP):c.178G>T (p.Asp60Tyr)
|
rs1311501368
|
0.00001
|
NM_024301.5(FKRP):c.186G>A (p.Ala62=)
|
rs764225864
|
0.00001
|
NM_024301.5(FKRP):c.186G>T (p.Ala62=)
|
rs764225864
|
0.00001
|
NM_024301.5(FKRP):c.18C>T (p.Cys6=)
|
rs373388363
|
0.00001
|
NM_024301.5(FKRP):c.203A>C (p.Asp68Ala)
|
rs779035324
|
0.00001
|
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)
|
rs990847012
|
0.00001
|
NM_024301.5(FKRP):c.22G>A (p.Ala8Thr)
|
rs1178928336
|
0.00001
|
NM_024301.5(FKRP):c.236T>C (p.Val79Ala)
|
rs2054894918
|
0.00001
|
NM_024301.5(FKRP):c.240G>C (p.Val80=)
|
rs769443891
|
0.00001
|
NM_024301.5(FKRP):c.273G>A (p.Leu91=)
|
rs2054896422
|
0.00001
|
NM_024301.5(FKRP):c.274G>T (p.Ala92Ser)
|
rs1232466626
|
0.00001
|
NM_024301.5(FKRP):c.283C>T (p.Arg95Cys)
|
rs767399675
|
0.00001
|
NM_024301.5(FKRP):c.298C>T (p.Arg100Cys)
|
rs1244445645
|
0.00001
|
NM_024301.5(FKRP):c.299G>A (p.Arg100His)
|
rs1174581828
|
0.00001
|
NM_024301.5(FKRP):c.312C>T (p.Leu104=)
|
rs1159432554
|
0.00001
|
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter)
|
rs761821795
|
0.00001
|
NM_024301.5(FKRP):c.315G>T (p.Gln105His)
|
rs765444642
|
0.00001
|
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)
|
rs1164727838
|
0.00001
|
NM_024301.5(FKRP):c.32C>T (p.Ala11Val)
|
rs760295001
|
0.00001
|
NM_024301.5(FKRP):c.347G>T (p.Arg116Leu)
|
rs1235772349
|
0.00001
|
NM_024301.5(FKRP):c.348C>G (p.Arg116=)
|
rs995869558
|
0.00001
|
NM_024301.5(FKRP):c.379G>A (p.Ala127Thr)
|
rs1060502106
|
0.00001
|
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp)
|
rs398124392
|
0.00001
|
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile)
|
rs1599935206
|
0.00001
|
NM_024301.5(FKRP):c.466G>A (p.Val156Met)
|
rs765402738
|
0.00001
|
NM_024301.5(FKRP):c.474C>G (p.Ala158=)
|
rs963599756
|
0.00001
|
NM_024301.5(FKRP):c.486G>A (p.Thr162=)
|
rs773481816
|
0.00001
|
NM_024301.5(FKRP):c.48C>T (p.Leu16=)
|
rs776358648
|
0.00001
|
NM_024301.5(FKRP):c.493C>T (p.Pro165Ser)
|
rs959475250
|
0.00001
|
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp)
|
rs748272589
|
0.00001
|
NM_024301.5(FKRP):c.517G>A (p.Val173Ile)
|
rs1322879846
|
0.00001
|
NM_024301.5(FKRP):c.52C>T (p.Leu18Phe)
|
rs1226848053
|
0.00001
|
NM_024301.5(FKRP):c.537C>G (p.Thr179=)
|
rs756705086
|
0.00001
|
NM_024301.5(FKRP):c.540C>T (p.Ala180=)
|
rs1269695339
|
0.00001
|
NM_024301.5(FKRP):c.544T>C (p.Tyr182His)
|
rs753390261
|
0.00001
|
NM_024301.5(FKRP):c.551C>T (p.Ala184Val)
|
rs1489408026
|
0.00001
|
NM_024301.5(FKRP):c.557C>T (p.Pro186Leu)
|
rs745619101
|
0.00001
|
NM_024301.5(FKRP):c.576C>T (p.Asp192=)
|
rs1366277135
|
0.00001
|
NM_024301.5(FKRP):c.582G>A (p.Leu194=)
|
rs771223960
|
0.00001
|
NM_024301.5(FKRP):c.583G>T (p.Asp195Tyr)
|
rs1289689195
|
0.00001
|
NM_024301.5(FKRP):c.59T>C (p.Val20Ala)
|
rs750241299
|
0.00001
|
NM_024301.5(FKRP):c.603C>T (p.Leu201=)
|
rs1340816162
|
0.00001
|
NM_024301.5(FKRP):c.610G>A (p.Ala204Thr)
|
rs764621521
|
0.00001
|
NM_024301.5(FKRP):c.621C>T (p.Leu207=)
|
rs1057522134
|
0.00001
|
NM_024301.5(FKRP):c.635C>T (p.Ala212Val)
|
rs758125491
|
0.00001
|
NM_024301.5(FKRP):c.66C>T (p.Phe22=)
|
rs995818740
|
0.00001
|
NM_024301.5(FKRP):c.677C>A (p.Thr226Asn)
|
rs772380755
|
0.00001
|
NM_024301.5(FKRP):c.678C>G (p.Thr226=)
|
rs1060504471
|
0.00001
|
NM_024301.5(FKRP):c.682C>T (p.Leu228Phe)
|
rs886044590
|
0.00001
|
NM_024301.5(FKRP):c.699G>A (p.Val233=)
|
rs764527541
|
0.00001
|
NM_024301.5(FKRP):c.69T>C (p.Tyr23=)
|
rs954656663
|
0.00001
|
NM_024301.5(FKRP):c.703C>T (p.Leu235=)
|
rs1428469954
|
0.00001
|
NM_024301.5(FKRP):c.706C>G (p.Leu236Val)
|
rs754347622
|
0.00001
|
NM_024301.5(FKRP):c.738C>T (p.Pro246=)
|
rs2054915819
|
0.00001
|
NM_024301.5(FKRP):c.741G>A (p.Pro247=)
|
rs1488332243
|
0.00001
|
NM_024301.5(FKRP):c.744G>A (p.Leu248=)
|
rs1200403758
|
0.00001
|
NM_024301.5(FKRP):c.753C>A (p.Ala251=)
|
rs1317582201
|
0.00001
|
NM_024301.5(FKRP):c.761G>A (p.Arg254His)
|
rs1395997291
|
0.00001
|
NM_024301.5(FKRP):c.77G>T (p.Trp26Leu)
|
rs752731569
|
0.00001
|
NM_024301.5(FKRP):c.780G>A (p.Glu260=)
|
rs1414659732
|
0.00001
|
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu)
|
rs1320991574
|
0.00001
|
NM_024301.5(FKRP):c.798G>A (p.Ala266=)
|
rs1012811921
|
0.00001
|
NM_024301.5(FKRP):c.801G>A (p.Ala267=)
|
rs1172407770
|
0.00001
|
NM_024301.5(FKRP):c.803T>G (p.Leu268Arg)
|
rs886042921
|
0.00001
|
NM_024301.5(FKRP):c.809G>A (p.Arg270His)
|
rs1025118379
|
0.00001
|
NM_024301.5(FKRP):c.825C>T (p.Arg275=)
|
rs1457625449
|
0.00001
|
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu)
|
rs1060502110
|
0.00001
|
NM_024301.5(FKRP):c.845G>C (p.Gly282Ala)
|
rs775795075
|
0.00001
|
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro)
|
rs1435780847
|
0.00001
|
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)
|
rs963039919
|
0.00001
|
NM_024301.5(FKRP):c.861C>T (p.Phe287=)
|
rs1337312819
|
0.00001
|
NM_024301.5(FKRP):c.870C>T (p.Asn290=)
|
rs1349056465
|
0.00001
|
NM_024301.5(FKRP):c.897C>T (p.Thr299=)
|
rs1363012131
|
0.00001
|
NM_024301.5(FKRP):c.915C>G (p.Pro305=)
|
rs1372543621
|
0.00001
|
NM_024301.5(FKRP):c.918C>T (p.Ala306=)
|
rs1410653063
|
0.00001
|
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)
|
rs104894692
|
0.00001
|
NM_024301.5(FKRP):c.920A>G (p.Tyr307Cys)
|
rs762546512
|
0.00001
|
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys)
|
rs104894679
|
0.00001
|
NM_024301.5(FKRP):c.927C>T (p.Tyr309=)
|
rs1356212665
|
0.00001
|
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser)
|
rs28937901
|
0.00001
|
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)
|
rs752582904
|
0.00001
|
NM_024301.5(FKRP):c.959G>A (p.Arg320His)
|
rs1465811690
|
0.00001
|
NM_024301.5(FKRP):c.962C>A (p.Ala321Glu)
|
rs745882222
|
0.00001
|
NM_024301.5(FKRP):c.968G>A (p.Arg323His)
|
rs1349031936
|
0.00001
|
NM_024301.5(FKRP):c.970G>C (p.Glu324Gln)
|
rs886044183
|
0.00001
|
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)
|
rs1201873802
|
0.00001
|
NM_024301.5(FKRP):c.980G>A (p.Arg327His)
|
rs747219711
|
0.00001
|
NM_024301.5(FKRP):c.982_984del (p.Tyr328del)
|
rs886043458
|
0.00001
|
NM_024301.5(FKRP):c.984T>C (p.Tyr328=)
|
rs1181528755
|
0.00001
|
NM_024301.5(FKRP):c.9C>T (p.Leu3=)
|
rs756295058
|
0.00001
|
NM_032237.5(POMK):c.1023C>T (p.Ala341=)
|
rs777058315
|
0.00001
|
NM_032237.5(POMK):c.10C>T (p.Gln4Ter)
|
rs202006335
|
0.00001
|
NM_032237.5(POMK):c.111C>T (p.Cys37=)
|
rs774288809
|
0.00001
|
NM_032237.5(POMK):c.115G>A (p.Asp39Asn)
|
rs775170725
|
0.00001
|
NM_032237.5(POMK):c.168C>G (p.Pro56=)
|
rs1392752976
|
0.00001
|
NM_032237.5(POMK):c.183G>A (p.Arg61=)
|
rs778749095
|
0.00001
|
NM_032237.5(POMK):c.1A>G (p.Met1Val)
|
rs1432594936
|
0.00001
|
NM_032237.5(POMK):c.254A>G (p.Lys85Arg)
|
rs752925552
|
0.00001
|
NM_032237.5(POMK):c.282+7C>A
|
rs747811554
|
0.00001
|
NM_032237.5(POMK):c.282+8C>T
|
rs376305406
|
0.00001
|
NM_032237.5(POMK):c.282+9G>A
|
rs779331401
|
0.00001
|
NM_032237.5(POMK):c.324A>C (p.Ser108=)
|
rs764321374
|
0.00001
|
NM_032237.5(POMK):c.326A>G (p.Gln109Arg)
|
rs766606876
|
0.00001
|
NM_032237.5(POMK):c.334A>G (p.Ser112Gly)
|
rs765276659
|
0.00001
|
NM_032237.5(POMK):c.3G>C (p.Met1Ile)
|
rs757689822
|
0.00001
|
NM_032237.5(POMK):c.408G>A (p.Thr136=)
|
rs372221328
|
0.00001
|
NM_032237.5(POMK):c.410T>G (p.Leu137Arg)
|
rs397509385
|
0.00001
|
NM_032237.5(POMK):c.43C>T (p.Arg15Ter)
|
rs774013796
|
0.00001
|
NM_032237.5(POMK):c.45A>G (p.Arg15=)
|
rs1387597417
|
0.00001
|
NM_032237.5(POMK):c.46G>A (p.Glu16Lys)
|
rs760216520
|
0.00001
|
NM_032237.5(POMK):c.49G>T (p.Val17Leu)
|
rs1811486866
|
0.00001
|
NM_032237.5(POMK):c.502A>C (p.Lys168Gln)
|
rs756014333
|
0.00001
|
NM_032237.5(POMK):c.51G>T (p.Val17=)
|
rs140164489
|
0.00001
|
NM_032237.5(POMK):c.580C>T (p.His194Tyr)
|
rs565775459
|
0.00001
|
NM_032237.5(POMK):c.588T>C (p.Pro196=)
|
rs766337800
|
0.00001
|
NM_032237.5(POMK):c.591G>A (p.Val197=)
|
rs534295348
|
0.00001
|
NM_032237.5(POMK):c.619G>A (p.Asp207Asn)
|
rs748538450
|
0.00001
|
NM_032237.5(POMK):c.620A>G (p.Asp207Gly)
|
rs770018377
|
0.00001
|
NM_032237.5(POMK):c.627G>A (p.Pro209=)
|
rs771102494
|
0.00001
|
NM_032237.5(POMK):c.633A>C (p.Thr211=)
|
rs1011002628
|
0.00001
|
NM_032237.5(POMK):c.663C>A (p.Phe221Leu)
|
rs145931566
|
0.00001
|
NM_032237.5(POMK):c.688G>A (p.Ala230Thr)
|
rs1018638122
|
0.00001
|
NM_032237.5(POMK):c.808G>A (p.Asp270Asn)
|
rs1295331795
|
0.00001
|
NM_032237.5(POMK):c.833A>G (p.Glu278Gly)
|
rs757600130
|
0.00001
|
NM_032237.5(POMK):c.906C>T (p.Val302=)
|
rs1276870660
|
0.00001
|
NM_032237.5(POMK):c.907C>T (p.Arg303Ter)
|
rs528307346
|
0.00001
|
NM_032237.5(POMK):c.926T>C (p.Ile309Thr)
|
rs750736847
|
0.00001
|
NM_032806.6(POMGNT2):c.106C>T (p.Leu36=)
|
rs753784723
|
0.00001
|
NM_032806.6(POMGNT2):c.1186A>G (p.Met396Val)
|
rs769720860
|
0.00001
|
NM_032806.6(POMGNT2):c.122A>G (p.Gln41Arg)
|
rs775109394
|
0.00001
|
NM_032806.6(POMGNT2):c.1234G>T (p.Gly412Trp)
|
rs879819421
|
0.00001
|
NM_032806.6(POMGNT2):c.1255C>T (p.Arg419Trp)
|
rs1473558367
|
0.00001
|
NM_032806.6(POMGNT2):c.1256G>A (p.Arg419Gln)
|
rs764678016
|
0.00001
|
NM_032806.6(POMGNT2):c.1270C>T (p.Arg424Cys)
|
rs761086834
|
0.00001
|
NM_032806.6(POMGNT2):c.1275C>T (p.Ile425=)
|
rs1006094827
|
0.00001
|
NM_032806.6(POMGNT2):c.1320C>T (p.Pro440=)
|
rs377725879
|
0.00001
|
NM_032806.6(POMGNT2):c.1321G>A (p.Glu441Lys)
|
rs1195755326
|
0.00001
|
NM_032806.6(POMGNT2):c.1329C>T (p.Leu443=)
|
rs778395477
|
0.00001
|
NM_032806.6(POMGNT2):c.1349C>G (p.Thr450Ser)
|
rs759686826
|
0.00001
|
NM_032806.6(POMGNT2):c.1414C>T (p.Arg472Trp)
|
rs143892607
|
0.00001
|
NM_032806.6(POMGNT2):c.1416G>A (p.Arg472=)
|
rs775636761
|
0.00001
|
NM_032806.6(POMGNT2):c.1457G>A (p.Arg486Gln)
|
rs770439944
|
0.00001
|
NM_032806.6(POMGNT2):c.1465C>T (p.Arg489Trp)
|
rs748981500
|
0.00001
|
NM_032806.6(POMGNT2):c.1476G>A (p.Ala492=)
|
rs371889758
|
0.00001
|
NM_032806.6(POMGNT2):c.1494C>T (p.Ser498=)
|
rs751826847
|
0.00001
|
NM_032806.6(POMGNT2):c.1495G>A (p.Glu499Lys)
|
rs947616009
|
0.00001
|
NM_032806.6(POMGNT2):c.1501C>T (p.Arg501Cys)
|
rs780492743
|
0.00001
|
NM_032806.6(POMGNT2):c.1502G>A (p.Arg501His)
|
rs758493413
|
0.00001
|
NM_032806.6(POMGNT2):c.154G>A (p.Asp52Asn)
|
rs200869992
|
0.00001
|
NM_032806.6(POMGNT2):c.1551G>A (p.Val517=)
|
rs772907296
|
0.00001
|
NM_032806.6(POMGNT2):c.1555G>A (p.Glu519Lys)
|
rs747691921
|
0.00001
|
NM_032806.6(POMGNT2):c.1669C>T (p.Leu557=)
|
rs1477248373
|
0.00001
|
NM_032806.6(POMGNT2):c.181A>G (p.Met61Val)
|
rs747275058
|
0.00001
|
NM_032806.6(POMGNT2):c.188G>A (p.Gly63Asp)
|
rs779938160
|
0.00001
|
NM_032806.6(POMGNT2):c.204G>A (p.Val68=)
|
rs201432948
|
0.00001
|
NM_032806.6(POMGNT2):c.210G>A (p.Thr70=)
|
rs767368543
|
0.00001
|
NM_032806.6(POMGNT2):c.229C>T (p.Arg77Cys)
|
rs143806708
|
0.00001
|
NM_032806.6(POMGNT2):c.24C>T (p.Asn8=)
|
rs780544642
|
0.00001
|
NM_032806.6(POMGNT2):c.262A>G (p.Asn88Asp)
|
rs376220705
|
0.00001
|
NM_032806.6(POMGNT2):c.264C>T (p.Asn88=)
|
rs572228301
|
0.00001
|
NM_032806.6(POMGNT2):c.326C>T (p.Ser109Phe)
|
rs761158868
|
0.00001
|
NM_032806.6(POMGNT2):c.332G>A (p.Arg111His)
|
rs778907895
|
0.00001
|
NM_032806.6(POMGNT2):c.342A>G (p.Pro114=)
|
rs1401054879
|
0.00001
|
NM_032806.6(POMGNT2):c.351C>T (p.Leu117=)
|
rs1161648391
|
0.00001
|
NM_032806.6(POMGNT2):c.359C>T (p.Ser120Phe)
|
rs954166238
|
0.00001
|
NM_032806.6(POMGNT2):c.38C>T (p.Ser13Leu)
|
rs550179595
|
0.00001
|
NM_032806.6(POMGNT2):c.473G>A (p.Arg158His)
|
rs387907300
|
0.00001
|
NM_032806.6(POMGNT2):c.479A>G (p.Asn160Ser)
|
rs769772679
|
0.00001
|
NM_032806.6(POMGNT2):c.494T>C (p.Met165Thr)
|
rs1559414655
|
0.00001
|
NM_032806.6(POMGNT2):c.498C>T (p.His166=)
|
rs748906775
|
0.00001
|
NM_032806.6(POMGNT2):c.509del (p.Asp170fs)
|
rs2089847365
|
0.00001
|
NM_032806.6(POMGNT2):c.50C>T (p.Ala17Val)
|
rs771302608
|
0.00001
|
NM_032806.6(POMGNT2):c.511G>A (p.Asp171Asn)
|
rs768063378
|
0.00001
|
NM_032806.6(POMGNT2):c.516G>C (p.Leu172=)
|
rs553884155
|
0.00001
|
NM_032806.6(POMGNT2):c.529T>A (p.Tyr177Asn)
|
rs1372990845
|
0.00001
|
NM_032806.6(POMGNT2):c.549C>T (p.Pro183=)
|
rs1023281263
|
0.00001
|
NM_032806.6(POMGNT2):c.566C>T (p.Ala189Val)
|
rs770636157
|
0.00001
|
NM_032806.6(POMGNT2):c.569G>A (p.Arg190Gln)
|
rs200080447
|
0.00001
|
NM_032806.6(POMGNT2):c.576C>T (p.Phe192=)
|
rs755626367
|
0.00001
|
NM_032806.6(POMGNT2):c.590G>A (p.Trp197Ter)
|
rs752069645
|
0.00001
|
NM_032806.6(POMGNT2):c.609C>T (p.Phe203=)
|
rs765429374
|
0.00001
|
NM_032806.6(POMGNT2):c.620A>G (p.Lys207Arg)
|
rs753930877
|
0.00001
|
NM_032806.6(POMGNT2):c.70C>T (p.Arg24Trp)
|
rs756555077
|
0.00001
|
NM_032806.6(POMGNT2):c.748C>A (p.Pro250Thr)
|
rs759226377
|
0.00001
|
NM_032806.6(POMGNT2):c.759G>A (p.Pro253=)
|
rs981484756
|
0.00001
|
NM_032806.6(POMGNT2):c.785A>G (p.Asn262Ser)
|
rs538914614
|
0.00001
|
NM_032806.6(POMGNT2):c.807G>A (p.Arg269=)
|
rs1051665665
|
0.00001
|
NM_032806.6(POMGNT2):c.810C>G (p.Phe270Leu)
|
rs2089842378
|
0.00001
|
NM_032806.6(POMGNT2):c.846C>T (p.Val282=)
|
rs761657478
|
0.00001
|
NM_032806.6(POMGNT2):c.855C>T (p.Gly285=)
|
rs763778888
|
0.00001
|
NM_032806.6(POMGNT2):c.865A>G (p.Ile289Val)
|
rs368381386
|
0.00001
|
NM_032806.6(POMGNT2):c.950A>G (p.Lys317Arg)
|
rs1207636018
|
0.00001
|
NM_032806.6(POMGNT2):c.961G>A (p.Val321Met)
|
rs918587505
|
0.00001
|
NM_032806.6(POMGNT2):c.998G>A (p.Arg333Gln)
|
rs772311128
|
0.00001
|
NM_133642.5(LARGE1):c.*1229G>A
|
rs918504034
|
0.00001
|
NM_133642.5(LARGE1):c.-34G>A
|
rs759430272
|
0.00001
|
NM_133642.5(LARGE1):c.-359C>G
|
rs886057468
|
0.00001
|
NM_133642.5(LARGE1):c.-500T>C
|
rs968923312
|
0.00001
|
NM_133642.5(LARGE1):c.-527C>T
|
rs956387343
|
0.00001
|
NM_133642.5(LARGE1):c.1005+12G>T
|
rs1030394513
|
0.00001
|
NM_133642.5(LARGE1):c.1005+15T>G
|
rs1414312676
|
0.00001
|
NM_133642.5(LARGE1):c.1006-14C>T
|
rs1197844730
|
0.00001
|
NM_133642.5(LARGE1):c.1056C>A (p.Leu352=)
|
rs369877399
|
0.00001
|
NM_133642.5(LARGE1):c.106+6A>C
|
rs746650831
|
0.00001
|
NM_133642.5(LARGE1):c.1080G>A (p.Leu360=)
|
rs774412531
|
0.00001
|
NM_133642.5(LARGE1):c.117C>T (p.Pro39=)
|
rs140622529
|
0.00001
|
NM_133642.5(LARGE1):c.1182G>C (p.Val394=)
|
rs751250015
|
0.00001
|
NM_133642.5(LARGE1):c.1229A>G (p.Asn410Ser)
|
rs199912424
|
0.00001
|
NM_133642.5(LARGE1):c.1234C>T (p.Leu412=)
|
rs748508322
|
0.00001
|
NM_133642.5(LARGE1):c.1287+13C>T
|
rs759768595
|
0.00001
|
NM_133642.5(LARGE1):c.1288-8C>T
|
rs768000708
|
0.00001
|
NM_133642.5(LARGE1):c.1299G>T (p.Gln433His)
|
rs1463323644
|
0.00001
|
NM_133642.5(LARGE1):c.1331A>G (p.Tyr444Cys)
|
rs748074253
|
0.00001
|
NM_133642.5(LARGE1):c.1390G>A (p.Glu464Lys)
|
rs772985451
|
0.00001
|
NM_133642.5(LARGE1):c.1415C>T (p.Thr472Met)
|
rs779725828
|
0.00001
|
NM_133642.5(LARGE1):c.1416G>A (p.Thr472=)
|
rs755991003
|
0.00001
|
NM_133642.5(LARGE1):c.1432G>A (p.Ala478Thr)
|
rs778360056
|
0.00001
|
NM_133642.5(LARGE1):c.1451+12G>A
|
rs1029660389
|
0.00001
|
NM_133642.5(LARGE1):c.1462C>T (p.Leu488=)
|
rs759041475
|
0.00001
|
NM_133642.5(LARGE1):c.1483T>C (p.Trp495Arg)
|
rs267607209
|
0.00001
|
NM_133642.5(LARGE1):c.1501C>G (p.Leu501Val)
|
rs966974831
|
0.00001
|
NM_133642.5(LARGE1):c.1525G>A (p.Glu509Lys)
|
rs121908675
|
0.00001
|
NM_133642.5(LARGE1):c.1557C>T (p.Gly519=)
|
rs763782820
|
0.00001
|
NM_133642.5(LARGE1):c.1585G>A (p.Val529Met)
|
rs146923365
|
0.00001
|
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)
|
rs372629986
|
0.00001
|
NM_133642.5(LARGE1):c.1614C>T (p.Gly538=)
|
rs749791648
|
0.00001
|
NM_133642.5(LARGE1):c.164C>T (p.Thr55Met)
|
rs766363552
|
0.00001
|
NM_133642.5(LARGE1):c.1654A>G (p.Lys552Glu)
|
rs764803042
|
0.00001
|
NM_133642.5(LARGE1):c.1663A>G (p.Ser555Gly)
|
rs760507626
|
0.00001
|
NM_133642.5(LARGE1):c.1702C>G (p.Pro568Ala)
|
rs1934563241
|
0.00001
|
NM_133642.5(LARGE1):c.1706T>C (p.Met569Thr)
|
rs561951366
|
0.00001
|
NM_133642.5(LARGE1):c.173G>A (p.Ser58Asn)
|
rs774240856
|
0.00001
|
NM_133642.5(LARGE1):c.1799T>C (p.Leu600Pro)
|
rs1930821948
|
0.00001
|
NM_133642.5(LARGE1):c.1833G>A (p.Ala611=)
|
rs775318098
|
0.00001
|
NM_133642.5(LARGE1):c.1878-12C>T
|
rs535915450
|
0.00001
|
NM_133642.5(LARGE1):c.1893G>A (p.Thr631=)
|
rs138011042
|
0.00001
|
NM_133642.5(LARGE1):c.1902C>T (p.His634=)
|
rs754149838
|
0.00001
|
NM_133642.5(LARGE1):c.1932C>T (p.Thr644=)
|
rs764884886
|
0.00001
|
NM_133642.5(LARGE1):c.1933G>A (p.Ala645Thr)
|
rs759095312
|
0.00001
|
NM_133642.5(LARGE1):c.206T>C (p.Met69Thr)
|
rs1602977812
|
0.00001
|
NM_133642.5(LARGE1):c.2074-6T>C
|
rs775368005
|
0.00001
|
NM_133642.5(LARGE1):c.2087T>C (p.Ile696Thr)
|
rs200212868
|
0.00001
|
NM_133642.5(LARGE1):c.219G>A (p.Glu73=)
|
rs2080766768
|
0.00001
|
NM_133642.5(LARGE1):c.2228G>A (p.Gly743Asp)
|
rs746916767
|
0.00001
|
NM_133642.5(LARGE1):c.222G>T (p.Glu74Asp)
|
rs373261094
|
0.00001
|
NM_133642.5(LARGE1):c.2234C>A (p.Ala745Asp)
|
rs1254409268
|
0.00001
|
NM_133642.5(LARGE1):c.2243A>G (p.Lys748Arg)
|
rs1185896635
|
0.00001
|
NM_133642.5(LARGE1):c.227A>C (p.Asn76Thr)
|
rs752854659
|
0.00001
|
NM_133642.5(LARGE1):c.230G>A (p.Arg77His)
|
rs1402888044
|
0.00001
|
NM_133642.5(LARGE1):c.245A>G (p.Gln82Arg)
|
rs774035009
|
0.00001
|
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr)
|
rs398124184
|
0.00001
|
NM_133642.5(LARGE1):c.265C>G (p.Arg89Gly)
|
rs1359437833
|
0.00001
|
NM_133642.5(LARGE1):c.276C>T (p.Ser92=)
|
rs759755959
|
0.00001
|
NM_133642.5(LARGE1):c.284G>A (p.Arg95Gln)
|
rs773482355
|
0.00001
|
NM_133642.5(LARGE1):c.298A>G (p.Lys100Glu)
|
rs985654114
|
0.00001
|
NM_133642.5(LARGE1):c.321C>A (p.Gly107=)
|
rs776598184
|
0.00001
|
NM_133642.5(LARGE1):c.333C>T (p.Ser111=)
|
rs746767821
|
0.00001
|
NM_133642.5(LARGE1):c.34T>C (p.Leu12=)
|
rs1320102818
|
0.00001
|
NM_133642.5(LARGE1):c.393C>G (p.Val131=)
|
rs776024597
|
0.00001
|
NM_133642.5(LARGE1):c.418G>A (p.Val140Ile)
|
rs780394465
|
0.00001
|
NM_133642.5(LARGE1):c.442A>C (p.Asn148His)
|
rs753419341
|
0.00001
|
NM_133642.5(LARGE1):c.459C>T (p.Val153=)
|
rs199822331
|
0.00001
|
NM_133642.5(LARGE1):c.477C>T (p.Ser159=)
|
rs150283131
|
0.00001
|
NM_133642.5(LARGE1):c.492-10C>T
|
rs1452229191
|
0.00001
|
NM_133642.5(LARGE1):c.492-3C>T
|
rs1222657512
|
0.00001
|
NM_133642.5(LARGE1):c.492-6C>G
|
rs762612242
|
0.00001
|
NM_133642.5(LARGE1):c.494G>A (p.Arg165Gln)
|
rs1343483735
|
0.00001
|
NM_133642.5(LARGE1):c.506A>G (p.His169Arg)
|
rs886057461
|
0.00001
|
NM_133642.5(LARGE1):c.510C>G (p.Phe170Leu)
|
rs770995323
|
0.00001
|
NM_133642.5(LARGE1):c.546G>A (p.Leu182=)
|
rs755661957
|
0.00001
|
NM_133642.5(LARGE1):c.577G>A (p.Ala193Thr)
|
rs1349882228
|
0.00001
|
NM_133642.5(LARGE1):c.583C>T (p.Arg195Cys)
|
rs758364338
|
0.00001
|
NM_133642.5(LARGE1):c.597C>T (p.Tyr199=)
|
rs996648375
|
0.00001
|
NM_133642.5(LARGE1):c.664C>T (p.Leu222=)
|
rs148889570
|
0.00001
|
NM_133642.5(LARGE1):c.717C>T (p.Ile239=)
|
rs761927446
|
0.00001
|
NM_133642.5(LARGE1):c.729G>A (p.Thr243=)
|
rs1176140640
|
0.00001
|
NM_133642.5(LARGE1):c.74C>T (p.Thr25Ile)
|
rs773210756
|
0.00001
|
NM_133642.5(LARGE1):c.755C>T (p.Ala252Val)
|
rs764632554
|
0.00001
|
NM_133642.5(LARGE1):c.787+14A>T
|
rs776201139
|
0.00001
|
NM_133642.5(LARGE1):c.79A>G (p.Ile27Val)
|
rs772137666
|
0.00001
|
NM_133642.5(LARGE1):c.822T>C (p.Ser274=)
|
rs1443538111
|
0.00001
|
NM_133642.5(LARGE1):c.893-9G>A
|
rs758531510
|
0.00001
|
NM_133642.5(LARGE1):c.8G>C (p.Gly3Ala)
|
rs780682266
|
0.00001
|
NM_133642.5(LARGE1):c.904T>C (p.Leu302=)
|
rs755445182
|
0.00001
|
NM_133642.5(LARGE1):c.942G>A (p.Gln314=)
|
rs776701293
|
0.00001
|
NM_133642.5(LARGE1):c.958G>A (p.Ala320Thr)
|
rs374774937
|
0.00001
|
NM_152490.5(B3GALNT2):c.1025+15T>C
|
rs1445379451
|
0.00001
|
NM_152490.5(B3GALNT2):c.1026-8G>T
|
rs765661953
|
0.00001
|
NM_152490.5(B3GALNT2):c.1041G>A (p.Thr347=)
|
rs775702524
|
0.00001
|
NM_152490.5(B3GALNT2):c.1065A>G (p.Thr355=)
|
rs373246690
|
0.00001
|
NM_152490.5(B3GALNT2):c.1081A>G (p.Ile361Val)
|
rs1470669806
|
0.00001
|
NM_152490.5(B3GALNT2):c.1089C>T (p.Leu363=)
|
rs1057522976
|
0.00001
|
NM_152490.5(B3GALNT2):c.1104T>C (p.Asn368=)
|
rs765751968
|
0.00001
|
NM_152490.5(B3GALNT2):c.1152-15T>C
|
rs764693057
|
0.00001
|
NM_152490.5(B3GALNT2):c.1182C>T (p.Thr394=)
|
rs373186743
|
0.00001
|
NM_152490.5(B3GALNT2):c.1197G>A (p.Glu399=)
|
rs1398625005
|
0.00001
|
NM_152490.5(B3GALNT2):c.1208C>T (p.Pro403Leu)
|
rs369378819
|
0.00001
|
NM_152490.5(B3GALNT2):c.1216G>A (p.Ala406Thr)
|
rs369079608
|
0.00001
|
NM_152490.5(B3GALNT2):c.1286A>G (p.Asn429Ser)
|
rs1374738059
|
0.00001
|
NM_152490.5(B3GALNT2):c.1308T>C (p.Tyr436=)
|
rs371512953
|
0.00001
|
NM_152490.5(B3GALNT2):c.1311+1G>C
|
rs1379052702
|
0.00001
|
NM_152490.5(B3GALNT2):c.1324A>T (p.Ser442Cys)
|
rs1041647688
|
0.00001
|
NM_152490.5(B3GALNT2):c.1368+1G>A
|
rs1479230229
|
0.00001
|
NM_152490.5(B3GALNT2):c.1371C>T (p.Asp457=)
|
rs200368164
|
0.00001
|
NM_152490.5(B3GALNT2):c.1372A>G (p.Ser458Gly)
|
rs1344429713
|
0.00001
|
NM_152490.5(B3GALNT2):c.1446G>A (p.Thr482=)
|
rs202105146
|
0.00001
|
NM_152490.5(B3GALNT2):c.1478_1479del (p.Asp493fs)
|
rs759968980
|
0.00001
|
NM_152490.5(B3GALNT2):c.1A>G (p.Met1Val)
|
rs763641118
|
0.00001
|
NM_152490.5(B3GALNT2):c.205G>A (p.Val69Met)
|
rs534508633
|
0.00001
|
NM_152490.5(B3GALNT2):c.254G>A (p.Ser85Asn)
|
rs947223231
|
0.00001
|
NM_152490.5(B3GALNT2):c.384G>A (p.Ala128=)
|
rs1049290415
|
0.00001
|
NM_152490.5(B3GALNT2):c.411G>A (p.Ser137=)
|
rs1443841724
|
0.00001
|
NM_152490.5(B3GALNT2):c.428G>A (p.Arg143Gln)
|
rs1256983608
|
0.00001
|
NM_152490.5(B3GALNT2):c.434T>C (p.Val145Ala)
|
rs1684704696
|
0.00001
|
NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr)
|
rs997345764
|
0.00001
|
NM_152490.5(B3GALNT2):c.444T>C (p.Ser148=)
|
rs780140983
|
0.00001
|
NM_152490.5(B3GALNT2):c.448C>T (p.Arg150Ter)
|
rs1282726649
|
0.00001
|
NM_152490.5(B3GALNT2):c.461C>G (p.Pro154Arg)
|
rs1684702121
|
0.00001
|
NM_152490.5(B3GALNT2):c.463A>G (p.Ile155Val)
|
rs753582080
|
0.00001
|
NM_152490.5(B3GALNT2):c.492C>T (p.Tyr164=)
|
rs1363202163
|
0.00001
|
NM_152490.5(B3GALNT2):c.493G>A (p.Asp165Asn)
|
rs377646173
|
0.00001
|
NM_152490.5(B3GALNT2):c.555+12T>C
|
rs1277419946
|
0.00001
|
NM_152490.5(B3GALNT2):c.555+5G>A
|
rs373909279
|
0.00001
|
NM_152490.5(B3GALNT2):c.556-8A>G
|
rs776132593
|
0.00001
|
NM_152490.5(B3GALNT2):c.602A>C (p.Gln201Pro)
|
rs1372895091
|
0.00001
|
NM_152490.5(B3GALNT2):c.61C>A (p.Leu21Met)
|
rs1185149901
|
0.00001
|
NM_152490.5(B3GALNT2):c.688C>T (p.Leu230Phe)
|
rs768629547
|
0.00001
|
NM_152490.5(B3GALNT2):c.694G>A (p.Gly232Ser)
|
rs775573521
|
0.00001
|
NM_152490.5(B3GALNT2):c.69G>T (p.Leu23=)
|
rs1234413183
|
0.00001
|
NM_152490.5(B3GALNT2):c.700G>T (p.Val234Leu)
|
rs778248252
|
0.00001
|
NM_152490.5(B3GALNT2):c.723G>A (p.Val241=)
|
rs777394575
|
0.00001
|
NM_152490.5(B3GALNT2):c.733G>T (p.Asp245Tyr)
|
rs751860328
|
0.00001
|
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)
|
rs367543072
|
0.00001
|
NM_152490.5(B3GALNT2):c.762+1G>A
|
rs757347274
|
0.00001
|
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)
|
rs367543074
|
0.00001
|
NM_152490.5(B3GALNT2):c.826A>G (p.Ile276Val)
|
rs533620649
|
0.00001
|
NM_152490.5(B3GALNT2):c.833C>T (p.Thr278Ile)
|
rs565013842
|
0.00001
|
NM_152490.5(B3GALNT2):c.842-1G>A
|
rs764784497
|
0.00001
|
NM_152490.5(B3GALNT2):c.842-4A>G
|
rs750335648
|
0.00001
|
NM_152490.5(B3GALNT2):c.842-6T>G
|
rs1187623137
|
0.00001
|
NM_152490.5(B3GALNT2):c.845G>A (p.Gly282Asp)
|
rs776153145
|
0.00001
|
NM_152490.5(B3GALNT2):c.893A>G (p.Asp298Gly)
|
rs1170718692
|
0.00001
|
NM_152490.5(B3GALNT2):c.92C>T (p.Ala31Val)
|
rs1286920217
|
0.00001
|
NM_152490.5(B3GALNT2):c.954T>A (p.Asp318Glu)
|
rs994102365
|
0.00001
|
NM_152490.5(B3GALNT2):c.989G>A (p.Arg330His)
|
rs771483345
|
0.00001
|
NM_153741.2(DPM3):c.129_130del (p.Tyr44fs)
|
rs1557794919
|
0.00001
|
NM_153741.2(DPM3):c.178C>T (p.Arg60Cys)
|
rs766751249
|
0.00001
|
NM_153741.2(DPM3):c.196G>T (p.Asp66Tyr)
|
rs1204451277
|
0.00001
|
NM_153741.2(DPM3):c.208G>A (p.Ala70Thr)
|
rs776662775
|
0.00001
|
NM_153741.2(DPM3):c.218A>C (p.Glu73Ala)
|
rs745807155
|
0.00001
|
NM_153741.2(DPM3):c.266G>A (p.Gly89Glu)
|
rs758821383
|
0.00001
|
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)
|
rs778481307
|
0.00001
|
NM_153741.2(DPM3):c.60C>T (p.Ala20=)
|
rs371295542
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223
|
0.00001
|
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile)
|
rs587777892
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
NM_170707.4(LMNA):c.1155G>A (p.Glu385=)
|
rs878855232
|
0.00001
|
NM_170707.4(LMNA):c.1157+19G>A
|
rs757715731
|
0.00001
|
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu)
|
rs267607561
|
0.00001
|
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys)
|
rs727504852
|
0.00001
|
NM_170707.4(LMNA):c.1280G>A (p.Arg427His)
|
rs747139279
|
0.00001
|
NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly)
|
rs1651628416
|
0.00001
|
NM_170707.4(LMNA):c.12G>A (p.Pro4=)
|
rs369823958
|
0.00001
|
NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr)
|
rs748433620
|
0.00001
|
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala)
|
rs876657849
|
0.00001
|
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)
|
rs267607598
|
0.00001
|
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys)
|
rs397517892
|
0.00001
|
NM_170707.4(LMNA):c.1364G>A (p.Arg455His)
|
rs267607597
|
0.00001
|
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr)
|
rs267607642
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188
|
0.00001
|
NM_170707.4(LMNA):c.153G>T (p.Ser51=)
|
rs751886390
|
0.00001
|
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)
|
rs57318642
|
0.00001
|
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)
|
rs144740174
|
0.00001
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
NM_170707.4(LMNA):c.1662G>A (p.Glu554=)
|
rs201936898
|
0.00001
|
NM_170707.4(LMNA):c.1699-9C>T
|
rs776616872
|
0.00001
|
NM_170707.4(LMNA):c.1731T>C (p.Ala577=)
|
rs776066211
|
0.00001
|
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys)
|
rs578193315
|
0.00001
|
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)
|
rs56657623
|
0.00001
|
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg)
|
rs786205448
|
0.00001
|
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg)
|
rs397517898
|
0.00001
|
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)
|
rs899373360
|
0.00001
|
NM_170707.4(LMNA):c.1880G>A (p.Arg627His)
|
rs745997478
|
0.00001
|
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser)
|
rs951584348
|
0.00001
|
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly)
|
rs1441670218
|
0.00001
|
NM_170707.4(LMNA):c.369G>A (p.Lys123=)
|
rs367938270
|
0.00001
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230
|
0.00001
|
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys)
|
rs760743233
|
0.00001
|
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)
|
rs370200334
|
0.00001
|
NM_170707.4(LMNA):c.514-11C>T
|
rs886045365
|
0.00001
|
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)
|
rs267607626
|
0.00001
|
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)
|
rs1016767319
|
0.00001
|
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile)
|
rs1195524446
|
0.00001
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
NM_170707.4(LMNA):c.845G>A (p.Ser282Asn)
|
rs1553265438
|
0.00001
|
NM_170707.4(LMNA):c.953C>T (p.Ala318Val)
|
rs1212920276
|
0.00001
|
NM_170707.4(LMNA):c.96G>A (p.Lys32=)
|
rs775429079
|
0.00001
|
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly)
|
rs775159300
|
0.00001
|
NM_173660.5(DOK7):c.100+18G>A
|
rs1361843879
|
0.00001
|
NM_173660.5(DOK7):c.1056C>T (p.Leu352=)
|
rs751252312
|
0.00001
|
NM_173660.5(DOK7):c.1057T>C (p.Ser353Pro)
|
rs931160069
|
0.00001
|
NM_173660.5(DOK7):c.1058C>T (p.Ser353Leu)
|
rs757019137
|
0.00001
|
NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe)
|
rs756015202
|
0.00001
|
NM_173660.5(DOK7):c.1092G>T (p.Arg364=)
|
rs767282152
|
0.00001
|
NM_173660.5(DOK7):c.1096A>G (p.Thr366Ala)
|
rs556239795
|
0.00001
|
NM_173660.5(DOK7):c.109C>T (p.Leu37=)
|
rs1283794146
|
0.00001
|
NM_173660.5(DOK7):c.1103A>G (p.Glu368Gly)
|
rs375795223
|
0.00001
|
NM_173660.5(DOK7):c.1138G>C (p.Ala380Pro)
|
rs760412846
|
0.00001
|
NM_173660.5(DOK7):c.1158C>T (p.Cys386=)
|
rs770365337
|
0.00001
|
NM_173660.5(DOK7):c.1191G>C (p.Val397=)
|
rs781489489
|
0.00001
|
NM_173660.5(DOK7):c.1214A>G (p.Tyr405Cys)
|
rs746536929
|
0.00001
|
NM_173660.5(DOK7):c.1217A>G (p.Asp406Gly)
|
rs1027188166
|
0.00001
|
NM_173660.5(DOK7):c.1227C>T (p.Arg409=)
|
rs762828158
|
0.00001
|
NM_173660.5(DOK7):c.1228A>G (p.Ser410Gly)
|
rs547633164
|
0.00001
|
NM_173660.5(DOK7):c.1247G>T (p.Arg416Ile)
|
rs1392647950
|
0.00001
|
NM_173660.5(DOK7):c.1268A>G (p.Gln423Arg)
|
rs756360879
|
0.00001
|
NM_173660.5(DOK7):c.1280G>A (p.Gly427Asp)
|
rs2020433
|
0.00001
|
NM_173660.5(DOK7):c.12G>A (p.Ala4=)
|
rs1202693776
|
0.00001
|
NM_173660.5(DOK7):c.1347G>A (p.Thr449=)
|
rs776624533
|
0.00001
|
NM_173660.5(DOK7):c.1355G>A (p.Arg452Gln)
|
rs777057956
|
0.00001
|
NM_173660.5(DOK7):c.1360C>T (p.Leu454=)
|
rs1231920444
|
0.00001
|
NM_173660.5(DOK7):c.1367T>G (p.Met456Arg)
|
rs753317302
|
0.00001
|
NM_173660.5(DOK7):c.1379A>G (p.Gln460Arg)
|
rs898026035
|
0.00001
|
NM_173660.5(DOK7):c.1387G>A (p.Glu463Lys)
|
rs745941308
|
0.00001
|
NM_173660.5(DOK7):c.1401T>C (p.Pro467=)
|
rs764419050
|
0.00001
|
NM_173660.5(DOK7):c.1411C>T (p.Pro471Ser)
|
rs764872565
|
0.00001
|
NM_173660.5(DOK7):c.1412C>T (p.Pro471Leu)
|
rs535473251
|
0.00001
|
NM_173660.5(DOK7):c.1443C>T (p.His481=)
|
rs749462644
|
0.00001
|
NM_173660.5(DOK7):c.1446G>A (p.Ala482=)
|
rs773592493
|
0.00001
|
NM_173660.5(DOK7):c.1448G>A (p.Gly483Glu)
|
rs761289689
|
0.00001
|
NM_173660.5(DOK7):c.1452A>G (p.Pro484=)
|
rs1462346774
|
0.00001
|
NM_173660.5(DOK7):c.1478C>T (p.Pro493Leu)
|
rs773679215
|
0.00001
|
NM_173660.5(DOK7):c.1482C>T (p.Val494=)
|
rs771501211
|
0.00001
|
NM_173660.5(DOK7):c.1485T>A (p.Cys495Ter)
|
rs1219587536
|
0.00001
|
NM_173660.5(DOK7):c.1513T>C (p.Ter505Arg)
|
rs1189551686
|
0.00001
|
NM_173660.5(DOK7):c.151C>A (p.Leu51Met)
|
rs761336523
|
0.00001
|
NM_173660.5(DOK7):c.193C>T (p.Leu65=)
|
rs546630800
|
0.00001
|
NM_173660.5(DOK7):c.328G>A (p.Glu110Lys)
|
rs1024410823
|
0.00001
|
NM_173660.5(DOK7):c.331+1G>T
|
rs1349476281
|
0.00001
|
NM_173660.5(DOK7):c.383C>T (p.Pro128Leu)
|
rs376659660
|
0.00001
|
NM_173660.5(DOK7):c.386C>T (p.Ala129Val)
|
rs1158650422
|
0.00001
|
NM_173660.5(DOK7):c.408T>C (p.Asp136=)
|
rs1219485664
|
0.00001
|
NM_173660.5(DOK7):c.412C>A (p.Leu138Ile)
|
rs747942116
|
0.00001
|
NM_173660.5(DOK7):c.415G>A (p.Val139Ile)
|
rs571769859
|
0.00001
|
NM_173660.5(DOK7):c.429C>T (p.Asp143=)
|
rs747023250
|
0.00001
|
NM_173660.5(DOK7):c.436C>T (p.Pro146Ser)
|
rs1727094027
|
0.00001
|
NM_173660.5(DOK7):c.438G>C (p.Pro146=)
|
rs776760690
|
0.00001
|
NM_173660.5(DOK7):c.458A>C (p.Lys153Thr)
|
rs1362167631
|
0.00001
|
NM_173660.5(DOK7):c.460C>G (p.Leu154Val)
|
rs775014794
|
0.00001
|
NM_173660.5(DOK7):c.472C>T (p.Arg158Trp)
|
rs753436594
|
0.00001
|
NM_173660.5(DOK7):c.476G>A (p.Arg159His)
|
rs1485585052
|
0.00001
|
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)
|
rs758131044
|
0.00001
|
NM_173660.5(DOK7):c.490C>T (p.Pro164Ser)
|
rs142756576
|
0.00001
|
NM_173660.5(DOK7):c.495C>T (p.Ser165=)
|
rs1405222108
|
0.00001
|
NM_173660.5(DOK7):c.496G>A (p.Gly166Arg)
|
rs781227659
|
0.00001
|
NM_173660.5(DOK7):c.49A>C (p.Lys17Gln)
|
rs1726073976
|
0.00001
|
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg)
|
rs768892432
|
0.00001
|
NM_173660.5(DOK7):c.562G>A (p.Glu188Lys)
|
rs1388813398
|
0.00001
|
NM_173660.5(DOK7):c.578G>A (p.Ser193Asn)
|
rs760505816
|
0.00001
|
NM_173660.5(DOK7):c.579C>T (p.Ser193=)
|
rs766358840
|
0.00001
|
NM_173660.5(DOK7):c.596del (p.Ile199fs)
|
rs797045528
|
0.00001
|
NM_173660.5(DOK7):c.598G>A (p.Val200Ile)
|
rs1388192187
|
0.00001
|
NM_173660.5(DOK7):c.602G>A (p.Arg201Gln)
|
rs1339181692
|
0.00001
|
NM_173660.5(DOK7):c.635T>C (p.Leu212Pro)
|
rs553985062
|
0.00001
|
NM_173660.5(DOK7):c.649C>T (p.Pro217Ser)
|
rs1301546614
|
0.00001
|
NM_173660.5(DOK7):c.652+5G>A
|
rs772918388
|
0.00001
|
NM_173660.5(DOK7):c.655C>G (p.Pro219Ala)
|
rs956613882
|
0.00001
|
NM_173660.5(DOK7):c.663C>G (p.Pro221=)
|
rs914998338
|
0.00001
|
NM_173660.5(DOK7):c.666G>A (p.Pro222=)
|
rs756895721
|
0.00001
|
NM_173660.5(DOK7):c.675G>A (p.Ser225=)
|
rs780065823
|
0.00001
|
NM_173660.5(DOK7):c.676A>G (p.Thr226Ala)
|
rs1447016347
|
0.00001
|
NM_173660.5(DOK7):c.691G>A (p.Val231Met)
|
rs369297851
|
0.00001
|
NM_173660.5(DOK7):c.716T>G (p.Leu239Arg)
|
rs1023898774
|
0.00001
|
NM_173660.5(DOK7):c.759G>A (p.Arg253=)
|
rs759824901
|
0.00001
|
NM_173660.5(DOK7):c.762G>A (p.Pro254=)
|
rs763623892
|
0.00001
|
NM_173660.5(DOK7):c.766A>G (p.Ser256Gly)
|
rs750004938
|
0.00001
|
NM_173660.5(DOK7):c.772+9G>A
|
rs778823411
|
0.00001
|
NM_173660.5(DOK7):c.849A>G (p.Ala283=)
|
rs756234763
|
0.00001
|
NM_173660.5(DOK7):c.878G>T (p.Ser293Ile)
|
rs767303929
|
0.00001
|
NM_173660.5(DOK7):c.945A>C (p.Ser315=)
|
rs757723197
|
0.00001
|
NM_173660.5(DOK7):c.946A>G (p.Arg316Gly)
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rs898373845
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0.00001
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GRCh37/hg19 22q12.3(chr22:34152899-34236578)
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GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1
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LARGE1, GLN87FS
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NC_000001.10:g.(?_155112438)_(155112716_?)dup
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NC_000001.10:g.(?_235543365)_(235619016_?)dup
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NC_000001.10:g.(?_235609505)_(235668781_?)dup
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NC_000001.10:g.(?_235613501)_(235667572_?)dup
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NC_000001.10:g.(?_235613511)_(235629041_?)dup
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NC_000001.10:g.(?_235613511)_(235658148_?)dup
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NC_000001.10:g.(?_235613511)_(235667562_?)dup
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NC_000001.10:g.(?_235616382)_(235643485_?)del
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NC_000001.10:g.(?_235628933)_(235629051_?)del
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NC_000001.10:g.(?_235634154)_(235647841_?)dup
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NC_000001.10:g.(?_235634154)_(235667552_?)dup
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NC_000001.10:g.(?_235652463)_(235658148_?)dup
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NC_000001.10:g.(?_25870190)_(26142209_?)del
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NC_000001.10:g.(?_26128487)_(26128628_?)dup
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NC_000001.10:g.(?_46654371)_(46663513_?)dup
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NC_000001.10:g.(?_46654381)_(46656466_?)del
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NC_000001.10:g.(?_46654381)_(46659607_?)dup
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NC_000001.10:g.(?_46654904)_(46660083_?)dup
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NC_000001.10:g.(?_46654942)_(46655681_?)dup
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NC_000001.10:g.(?_46654942)_(46656476_?)dup
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NC_000001.10:g.(?_46654942)_(46661769_?)dup
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NC_000001.10:g.(?_46654942)_(46663493_?)dup
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NC_000001.10:g.(?_46655193)_(46661449_?)del
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NC_000001.10:g.(?_46656135)_(46656466_?)dup
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NC_000001.10:g.(?_46656382)_(46662766_?)del
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NC_000001.10:g.(?_46662483)_(46671639_?)del
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NC_000001.10:g.(?_46663448)_(46664153_?)del
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NC_000001.11:g.(?_155139952)_(155140340_?)dup
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NC_000001.11:g.(?_235465599)_(235465734_?)del
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NC_000001.11:g.(?_235470840)_(235470970_?)dup
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NC_000001.11:g.(?_46188709)_(46194411_?)dup
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NC_000001.11:g.(?_46189232)_(46197831_?)dup
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NC_000001.11:g.(?_46190463)_(46190794_?)del
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NC_000001.11:g.235455553ACTT[3]
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NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
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NC_000002.11:g.(?_236403331)_(242801596_?)del
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NC_000002.11:g.(?_237481970)_(238305470_?)del
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NC_000002.11:g.(?_237481970)_(238305480_?)dup
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NC_000002.11:g.(?_238233407)_(238305470_?)dup
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NC_000002.11:g.(?_238233417)_(238428692_?)dup
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NC_000002.11:g.(?_238242073)_(238243552_?)del
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NC_000002.11:g.(?_238272973)_(238281000_?)del
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NC_000002.11:g.(?_238289548)_(238296837_?)del
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NC_000002.11:g.238258810delG
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rs794729205
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NC_000002.12:g.(?_236573327)_(237388194_?)dup
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NC_000002.12:g.(?_237333450)_(237334889_?)del
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NC_000002.12:g.(?_237358501)_(237361194_?)del
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NC_000002.12:g.(?_237362747)_(237372158_?)del
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NC_000002.12:g.237345214del
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NC_000003.11:g.(?_40924962)_(43760024_?)dup
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NC_000003.11:g.(?_43121161)_(43122943_?)dup
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NC_000003.11:g.(?_43121181)_(43122923_?)del
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NC_000003.11:g.(?_49547968)_(49548272_?)dup
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NC_000003.11:g.(?_49568220)_(49570642_?)dup
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NC_000004.11:g.(?_3465093)_(3495238_?)dup
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NC_000004.11:g.(?_3465103)_(3465298_?)del
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NC_000004.11:g.(?_3465103)_(3465298_?)dup
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NC_000004.11:g.(?_3465103)_(3495228_?)dup
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NC_000004.11:g.(?_3494466)_(3495228_?)del
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NC_000004.11:g.(?_3494787)_3495019dup
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NC_000004.12:g.(?_3463366)_(3493511_?)del
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NC_000004.12:g.(?_3473386)_(3489816_?)del
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NC_000004.12:g.(?_3485519)_(3493521_?)del
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NC_000004.12:g.(?_3485529)_(3485668_?)del
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NC_000004.12:g.(?_3485529)_(3493511_?)del
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NC_000006.11:g.(?_75796253)_(75855181_?)del
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NC_000006.11:g.(?_75796253)_(75912518_?)del
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NC_000006.11:g.(?_75796263)_(75813546_?)dup
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NC_000006.11:g.(?_75806949)_(75807042_?)del
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NC_000006.11:g.(?_75833026)_(75912508_?)del
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NC_000006.11:g.(?_75833644)_(75847315_?)del
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NC_000006.11:g.(?_75855798)_(75861023_?)del
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NC_000006.11:g.(?_75858054)_(75912508_?)dup
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NC_000006.12:g.(?_75086537)_(75202802_?)dup
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NC_000006.12:g.128960376_129175759del
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NC_000007.13:g.(?_16131310)_(16131434_?)dup
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NC_000007.13:g.(?_16131310)_(16255832_?)del
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NC_000007.13:g.(?_16131310)_(16460957_?)dup
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NC_000007.13:g.(?_16131320)_(16255842_?)del
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NC_000007.13:g.(?_16131320)_(16348272_?)dup
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NC_000007.13:g.(?_16131320)_(16460947_?)del
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NC_000007.13:g.(?_16297995)_(16317871_?)del
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NC_000007.13:g.(?_16341026)_(16341111_?)del
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NC_000007.13:g.(?_16341026)_(16348272_?)del
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NC_000007.13:g.(?_16341026)_(16415886_?)del
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NC_000007.13:g.(?_16341026)_(16460947_?)dup
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NC_000007.13:g.(?_16348128)_(16445982_?)del
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NC_000007.13:g.(?_16415697)_(16415886_?)dup
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NC_000007.13:g.(?_16415697)_(16460947_?)del
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NC_000007.13:g.(?_16415697)_(16460947_?)dup
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NC_000007.13:g.(?_16415707)_(16415876_?)del
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NC_000007.13:g.(?_16445666)_(16445982_?)del
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NC_000007.13:g.(?_16445666)_(16445982_?)dup
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NC_000007.13:g.(?_16460671)_(16460947_?)del
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NC_000007.14:g.(?_16091675)_(16216217_?)del
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NC_000007.14:g.(?_16216046)_(16216217_?)del
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NC_000007.14:g.(?_16216046)_(16376261_?)del
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NC_000007.14:g.(?_16216056)_(16216207_?)del
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NC_000007.14:g.(?_16258370)_(16259032_?)del
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NC_000007.14:g.(?_16258380)_(16259022_?)del
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NC_000007.14:g.(?_16301411)_(16308637_?)del
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NC_000007.14:g.(?_16308513)_(16376251_?)del
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NC_000007.14:g.(?_16308523)_(16689906_?)del
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NC_000007.14:g.(?_16376072)_(16376261_?)del
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NC_000007.14:g.(?_16406061)_(16406337_?)del
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NC_000008.10:g.(?_42693095)_(42978030_?)dup
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NC_000008.10:g.(?_42958672)_(42978040_?)dup
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NC_000008.10:g.(?_42958682)_(42958983_?)dup
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NC_000008.10:g.(?_42958682)_(42978030_?)dup
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NC_000008.10:g.(?_42958692)_(43054712_?)dup
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NC_000008.10:g.(?_42977230)_(43054712_?)dup
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NC_000008.11:g.(?_43103539)_(43103840_?)del
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NC_000009.11:g.(?_107546596)_(108536361_?)dup
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NC_000009.11:g.(?_108320401)_(108337428_?)del
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NC_000009.11:g.(?_108335926)_(108403409_?)del
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NC_000009.11:g.(?_108337304)_(108358948_?)dup
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NC_000009.11:g.(?_108337304)_(108397555_?)del
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NC_000009.11:g.(?_108337314)_(108468054_?)del
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NC_000009.11:g.(?_108358859)_(108484922_?)del
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NC_000009.11:g.(?_108358859)_(108510491_?)dup
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NC_000009.11:g.(?_108377539)_(108377708_?)dup
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NC_000009.11:g.(?_108377549)_(108382383_?)del
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NC_000009.11:g.(?_108397312)_(108397545_?)del
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NC_000009.11:g.(?_130216797)_(130953151_?)dup
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NC_000009.11:g.(?_130216807)_(130953136_?)del
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NC_000009.11:g.(?_134389752)_(134390863_?)del
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NC_000009.11:g.(?_134395447)_(134395600_?)dup
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NC_000009.12:g.(?_105546358)_(105620061_?)del
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NC_000009.12:g.(?_105575023)_(105575147_?)del
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NC_000009.12:g.(?_105575023)_(105635274_?)dup
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NC_000009.12:g.(?_105606576)_(105641128_?)del
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NC_000009.12:g.(?_130664644)_(131523116_?)dup
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NC_000009.12:g.105604215del
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NC_000011.9:g.(?_66099747)_(66291373_?)dup
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NC_000012.11:g.(?_56091458)_(56093230_?)del
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NC_000012.11:g.(?_64198994)_(64199204_?)dup
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NC_000012.12:g.(?_55685048)_(55707692_?)dup
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NC_000012.12:g.(?_55697675)_(55698937_?)del
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NC_000014.8:g.(?_77743719)_(77787024_?)dup
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NC_000014.8:g.(?_77755085)_(77762636_?)del
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NC_000019.10:g.(?_46605817)_(46756948_?)dup
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NC_000019.10:g.(?_46755431)_(46756958_?)del
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NC_000019.10:g.(?_46755441)_(46756948_?)dup
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NC_000019.9:g.(?_47255735)_(47259270_?)del
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NC_000019.9:g.(?_47255735)_47259271del
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NC_000019.9:g.(?_47258698)_(47260205_?)del
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NC_000021.8:g.(?_47400663)_(47425963_?)dup
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NC_000021.8:g.(?_47401745)_(47532511_?)dup
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NC_000021.8:g.(?_47401755)_(47546465_?)dup
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NC_000021.8:g.(?_47407403)_(47407578_?)del
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NC_000021.8:g.(?_47407419)_(47408291_?)del
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NC_000021.8:g.(?_47408988)_(47410346_?)del
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NC_000021.8:g.(?_47410282)_(47410965_?)dup
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NC_000021.8:g.(?_47410677)_(47410965_?)dup
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NC_000021.8:g.(?_47417315)_(47423927_?)dup
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NC_000021.8:g.(?_47422287)_(47423978_?)del
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NC_000021.8:g.(?_47423046)_(47429562_?)del
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NC_000021.8:g.(?_47517033)_(47553763_?)dup
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NC_000021.8:g.(?_47518024)_47552476dup
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NC_000021.8:g.(?_47529674)_(47540994_?)del
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NC_000021.8:g.(?_47529674)_47540994del
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NC_000021.8:g.(?_47533070)_47584395del
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NC_000021.8:g.(?_47536545)_(47536748_?)dup
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NC_000021.8:g.(?_47536737)_(47537399_?)del
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NC_000021.8:g.(?_47542769)_(47546475_?)dup
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NC_000021.8:g.(?_47545206)_(47546374_?)del
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NC_000021.8:g.(?_47551858)_(47552476_?)dup
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NC_000021.9:g.(?_45981831)_(46004033_?)dup
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NC_000021.9:g.(?_45981831)_(46132572_?)del
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NC_000021.9:g.(?_45986526)_(45987654_?)del
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NC_000021.9:g.(?_45989064)_(45989157_?)del
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NC_000021.9:g.(?_46111467)_(46112834_?)dup
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NC_000021.9:g.(?_46111467)_(46121133_?)del
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NC_000021.9:g.(?_46111477)_(46121123_?)del
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NC_000021.9:g.(?_46113998)_(46116063_?)dup
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NC_000021.9:g.46116773dup
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NC_000021.9:g.46119791_46119798dup
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NC_000022.10:g.(33756233_33756918)_(33759931_33760459)delins42.9KB
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NC_000022.10:g.(?_32232938)_(34157463_?)dup
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NC_000022.10:g.(?_33559508)_(33673261_?)del
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NC_000022.10:g.(?_33670403)_(33679344_?)del
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NC_000022.10:g.(?_33670403)_(33828261_?)dup
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NC_000022.10:g.(?_33700195)_(33712254_?)del
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NC_000022.10:g.(?_33712051)_(33733807_?)del
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NC_000022.10:g.(?_33733612)_(33828271_?)del
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NC_000022.10:g.(?_33733612)_(34157463_?)del
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NC_000022.10:g.(?_33777885)_(33828271_?)del
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NC_000022.10:g.(?_33828127)_(33961025_?)del
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NC_000022.10:g.(?_33828137)_(34157473_?)del
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NC_000022.10:g.(?_33960814)_(33961025_?)del
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NC_000022.10:g.(?_33960814)_(34157463_?)del
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NC_000022.10:g.(?_33960824)_(34022320_?)del
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NC_000022.10:g.(?_33960824)_(34046664_?)del
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NC_000022.10:g.(?_34000401)_(34046674_?)del
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NC_000022.10:g.(?_34000401)_(34157463_?)del
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NC_000022.10:g.(?_34022208)_(34022330_?)del
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NC_000022.10:g.(?_34022208)_(34157483_?)del
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NC_000022.10:g.(?_34022218)_(34157473_?)del
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NC_000022.10:g.(?_34157338)_(34157463_?)del
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NC_000022.10:g.(?_34157338)_(34157463_?)dup
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NC_000022.10:g.(?_50885571)_(51021210_?)del
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NC_000022.10:g.(?_51017600)_(51021220_?)dup
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NC_000022.10:g.(?_51017610)_(51021210_?)del
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NC_000022.11:g.(?_33761351)_(33761496_?)del
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NC_000022.11:g.(?_33761361)_(33761486_?)del
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NC_000022.11:g.(?_50579171)_(50580670_?)dup
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NC_000022.11:g.(?_50579171)_(50582791_?)del
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NG_009929.2:g.523149_586240del
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NG_042181.1:(g.89607_91434)_(105703_107097)del
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NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
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NM_000426.3(LAMA2):c.6993_7155del163 (p.Ser2331Argfs)
|
rs1554301637
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NM_000426.3(LAMA2):c.[2049_2050delAG];[523G>T]
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NM_000426.3(LAMA2):c.[2461A>C;8282T>C]
|
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NM_000426.3(LAMA2):c.[7691T>C];[9253C>T]
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NM_000426.4(LAMA2):c.1011del (p.Thr339fs)
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NM_000426.4(LAMA2):c.1027+1G>T
|
rs1064797327
|
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NM_000426.4(LAMA2):c.1051G>T (p.Glu351Ter)
|
rs1778991422
|
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NM_000426.4(LAMA2):c.1065T>A (p.Tyr355Ter)
|
rs1436470033
|
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NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter)
|
rs1360796756
|
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NM_000426.4(LAMA2):c.1097T>A (p.Leu366Ter)
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NM_000426.4(LAMA2):c.112+1G>T
|
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NM_000426.4(LAMA2):c.1121_1129delinsTACTT (p.Gly374fs)
|
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|
NM_000426.4(LAMA2):c.1122del (p.Gly376fs)
|
rs1338860420
|
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NM_000426.4(LAMA2):c.113-2A>C
|
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NM_000426.4(LAMA2):c.113-639del
|
rs1787824675
|
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NM_000426.4(LAMA2):c.1188dup (p.Phe397fs)
|
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NM_000426.4(LAMA2):c.1195_1198del (p.Arg399fs)
|
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|
NM_000426.4(LAMA2):c.1206G>C (p.Gly402=)
|
rs1167723109
|
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NM_000426.4(LAMA2):c.1207-1G>A
|
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NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
|
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NM_000426.4(LAMA2):c.1255del (p.Ile419fs)
|
rs1185229314
|
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NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer)
|
rs1779702214
|
|
NM_000426.4(LAMA2):c.1278T>A (p.Cys426Ter)
|
rs1779703136
|
|
NM_000426.4(LAMA2):c.1282_1283dup (p.Asp429fs)
|
rs2114993311
|
|
NM_000426.4(LAMA2):c.1289_1290insT (p.Glu430fs)
|
|
|
NM_000426.4(LAMA2):c.1306+2T>G
|
rs1326401124
|
|
NM_000426.4(LAMA2):c.1307-1G>A
|
rs1554234051
|
|
NM_000426.4(LAMA2):c.1307-2A>G
|
|
|
NM_000426.4(LAMA2):c.1358G>C (p.Cys453Ser)
|
rs1554234086
|
|
NM_000426.4(LAMA2):c.1365del (p.Cys456fs)
|
|
|
NM_000426.4(LAMA2):c.1415_1429del (p.Ser472_Ser476del)
|
rs1554234118
|
|
NM_000426.4(LAMA2):c.1429A>T (p.Lys477Ter)
|
|
|
NM_000426.4(LAMA2):c.1454C>T (p.Pro485Leu)
|
rs146522136
|
|
NM_000426.4(LAMA2):c.1464C>A (p.Cys488Ter)
|
rs1780700010
|
|
NM_000426.4(LAMA2):c.1467+2T>C
|
rs1554234163
|
|
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
|
|
|
NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter)
|
|
|
NM_000426.4(LAMA2):c.1533_1534insG (p.Trp512fs)
|
|
|
NM_000426.4(LAMA2):c.155T>G (p.Ile52Ser)
|
rs1380745222
|
|
NM_000426.4(LAMA2):c.1560T>A (p.Cys520Ter)
|
rs1781455687
|
|
NM_000426.4(LAMA2):c.1561_1562del (p.Ser521fs)
|
|
|
NM_000426.4(LAMA2):c.1612C>T (p.Gln538Ter)
|
rs1781592001
|
|
NM_000426.4(LAMA2):c.1629G>A (p.Trp543Ter)
|
|
|
NM_000426.4(LAMA2):c.1638_1641del (p.Asp547fs)
|
|
|
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter)
|
rs1303773212
|
|
NM_000426.4(LAMA2):c.1669CAG[1] (p.Gln558del)
|
rs775570308
|
|
NM_000426.4(LAMA2):c.1669del (p.Gln557fs)
|
|
|
NM_000426.4(LAMA2):c.1682_1688del (p.Leu561fs)
|
|
|
NM_000426.4(LAMA2):c.1686_1687insA (p.Ser563fs)
|
|
|
NM_000426.4(LAMA2):c.16_49del (p.Gly6fs)
|
|
|
NM_000426.4(LAMA2):c.1727_1767del (p.Gln576fs)
|
rs1583219849
|
|
NM_000426.4(LAMA2):c.172T>C (p.Cys58Arg)
|
rs1731993495
|
|
NM_000426.4(LAMA2):c.1749C>G (p.Tyr583Ter)
|
|
|
NM_000426.4(LAMA2):c.1752G>A (p.Trp584Ter)
|
rs1781606569
|
|
NM_000426.4(LAMA2):c.1755C>T (p.Ser585=)
|
rs1012171328
|
|
NM_000426.4(LAMA2):c.176G>A (p.Gly59Glu)
|
rs748303070
|
|
NM_000426.4(LAMA2):c.1782_1782+1delinsT
|
|
|
NM_000426.4(LAMA2):c.1793_1795del (p.Val598del)
|
rs1165542235
|
|
NM_000426.4(LAMA2):c.1795GGA[1] (p.Gly600del)
|
rs753417521
|
|
NM_000426.4(LAMA2):c.1823_1824del (p.Ser607_Tyr608insTer)
|
|
|
NM_000426.4(LAMA2):c.1831G>T (p.Glu611Ter)
|
rs1786068382
|
|
NM_000426.4(LAMA2):c.1834G>T (p.Glu612Ter)
|
rs1786068836
|
|
NM_000426.4(LAMA2):c.183del (p.Gly62fs)
|
|
|
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter)
|
rs398123368
|
|
NM_000426.4(LAMA2):c.1852G>T (p.Glu618Ter)
|
rs1786070922
|
|
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)
|
rs746844753
|
|
NM_000426.4(LAMA2):c.190G>T (p.Glu64Ter)
|
rs1231305572
|
|
NM_000426.4(LAMA2):c.1929_1931delinsT (p.His644fs)
|
|
|
NM_000426.4(LAMA2):c.1942G>T (p.Glu648Ter)
|
rs1786301728
|
|
NM_000426.4(LAMA2):c.1973_1991delinsTAA (p.Glu658fs)
|
|
|
NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter)
|
|
|
NM_000426.4(LAMA2):c.198C>A (p.Tyr66Ter)
|
rs1042843028
|
|
NM_000426.4(LAMA2):c.2006_2012del (p.Val669fs)
|
|
|
NM_000426.4(LAMA2):c.2044A>T (p.Lys682Ter)
|
rs1786309995
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.2054T>C (p.Leu685Pro)
|
rs746641607
|
|
NM_000426.4(LAMA2):c.2069A>G (p.Tyr690Cys)
|
rs2114287747
|
|
NM_000426.4(LAMA2):c.2096+1G>A
|
rs1554256965
|
|
NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter)
|
rs1787059737
|
|
NM_000426.4(LAMA2):c.2164G>A (p.Glu722Lys)
|
|
|
NM_000426.4(LAMA2):c.2166dup (p.Val723fs)
|
|
|
NM_000426.4(LAMA2):c.21CCT[4] (p.Leu13dup)
|
rs1347823295
|
|
NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter)
|
rs192317605
|
|
NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter)
|
rs775676341
|
|
NM_000426.4(LAMA2):c.2233dup (p.Val745fs)
|
|
|
NM_000426.4(LAMA2):c.2323-1G>A
|
rs1278823424
|
|
NM_000426.4(LAMA2):c.2323-2A>T
|
|
|
NM_000426.4(LAMA2):c.2328T>A (p.Cys776Ter)
|
rs1787862380
|
|
NM_000426.4(LAMA2):c.2348del (p.Pro783fs)
|
|
|
NM_000426.4(LAMA2):c.2350dup (p.Tyr784fs)
|
rs1554260284
|
|
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)
|
|
|
NM_000426.4(LAMA2):c.2395G>T (p.Gly799Ter)
|
|
|
NM_000426.4(LAMA2):c.2400_2401insAGGAAGACATTTA (p.Ser801fs)
|
|
|
NM_000426.4(LAMA2):c.2404G>T (p.Glu802Ter)
|
|
|
NM_000426.4(LAMA2):c.2450+5_2450+8del
|
rs1554260313
|
|
NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro)
|
rs186538779
|
|
NM_000426.4(LAMA2):c.2461_2476del (p.Thr821fs)
|
|
|
NM_000426.4(LAMA2):c.2471T>A (p.Leu824Ter)
|
|
|
NM_000426.4(LAMA2):c.2514del (p.Tyr839fs)
|
|
|
NM_000426.4(LAMA2):c.2521G>T (p.Gly841Ter)
|
|
|
NM_000426.4(LAMA2):c.2537+1G>C
|
|
|
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)
|
rs750731624
|
|
NM_000426.4(LAMA2):c.2557G>T (p.Gly853Ter)
|
rs1789386860
|
|
NM_000426.4(LAMA2):c.2587C>T (p.Gln863Ter)
|
rs897845923
|
|
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter)
|
rs1789395190
|
|
NM_000426.4(LAMA2):c.2670del (p.Lys890fs)
|
|
|
NM_000426.4(LAMA2):c.2703T>A (p.Cys901Ter)
|
rs1789398455
|
|
NM_000426.4(LAMA2):c.2710G>T (p.Gly904Ter)
|
rs1789399141
|
|
NM_000426.4(LAMA2):c.2718del (p.Phe906fs)
|
|
|
NM_000426.4(LAMA2):c.2719G>T (p.Gly907Ter)
|
rs1789399872
|
|
NM_000426.4(LAMA2):c.2723del (p.Asp908fs)
|
|
|
NM_000426.4(LAMA2):c.2749+1G>A
|
rs759555791
|
|
NM_000426.4(LAMA2):c.2768_2771dup (p.Ser925fs)
|
|
|
NM_000426.4(LAMA2):c.2776_2782del (p.Phe926fs)
|
|
|
NM_000426.4(LAMA2):c.2783_2784del (p.Glu928fs)
|
|
|
NM_000426.4(LAMA2):c.2788del (p.Cys930fs)
|
|
|
NM_000426.4(LAMA2):c.2790C>A (p.Cys930Ter)
|
|
|
NM_000426.4(LAMA2):c.2803G>T (p.Gly935Ter)
|
|
|
NM_000426.4(LAMA2):c.2811T>A (p.Cys937Ter)
|
|
|
NM_000426.4(LAMA2):c.2811_2812del (p.Cys937_Glu938delinsTer)
|
|
|
NM_000426.4(LAMA2):c.283+2T>A
|
|
|
NM_000426.4(LAMA2):c.2833G>A (p.Gly945Ser)
|
rs372574661
|
|
NM_000426.4(LAMA2):c.2834del (p.Gly945fs)
|
rs2114432671
|
|
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter)
|
rs1018100729
|
|
NM_000426.4(LAMA2):c.2856+1G>C
|
|
|
NM_000426.4(LAMA2):c.286A>T (p.Arg96Ter)
|
|
|
NM_000426.4(LAMA2):c.2879C>G (p.Ser960Ter)
|
|
|
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
|
|
|
NM_000426.4(LAMA2):c.2937_2938del (p.Cys979_Glu980delinsTer)
|
|
|
NM_000426.4(LAMA2):c.2950C>T (p.Gln984Ter)
|
rs1773282962
|
|
NM_000426.4(LAMA2):c.2957G>A (p.Trp986Ter)
|
rs1773283278
|
|
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)
|
rs398123371
|
|
NM_000426.4(LAMA2):c.2968G>T (p.Gly990Ter)
|
rs1187391940
|
|
NM_000426.4(LAMA2):c.3033C>A (p.Cys1011Ter)
|
|
|
NM_000426.4(LAMA2):c.3037+1G>T
|
rs1773291512
|
|
NM_000426.4(LAMA2):c.3089_3126dup (p.Lys1043fs)
|
rs2114460969
|
|
NM_000426.4(LAMA2):c.30_32del (p.Leu13del)
|
rs1278217420
|
|
NM_000426.4(LAMA2):c.3123T>A (p.Cys1041Ter)
|
rs1773502803
|
|
NM_000426.4(LAMA2):c.3139_3140insT (p.Asn1047fs)
|
|
|
NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter)
|
rs1583447808
|
|
NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter)
|
rs1774316033
|
|
NM_000426.4(LAMA2):c.3232C>T (p.Gln1078Ter)
|
rs2114493974
|
|
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg)
|
rs1583469739
|
|
NM_000426.4(LAMA2):c.3243T>A (p.Cys1081Ter)
|
rs944013929
|
|
NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter)
|
rs1774323015
|
|
NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter)
|
rs376088608
|
|
NM_000426.4(LAMA2):c.3290_3291del (p.His1097fs)
|
|
|
NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer)
|
rs764839142
|
|
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser)
|
rs35065563
|
|
NM_000426.4(LAMA2):c.32T>C (p.Leu11Pro)
|
rs730880252
|
|
NM_000426.4(LAMA2):c.3329del (p.Leu1110fs)
|
rs1583470073
|
|
NM_000426.4(LAMA2):c.3409A>T (p.Lys1137Ter)
|
|
|
NM_000426.4(LAMA2):c.3412-2A>C
|
rs1562449164
|
|
NM_000426.4(LAMA2):c.3421del (p.Glu1141fs)
|
|
|
NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter)
|
rs1774465781
|
|
NM_000426.4(LAMA2):c.3556-1G>C
|
rs2114501078
|
|
NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs)
|
rs1583475938
|
|
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs)
|
rs727503992
|
|
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs)
|
rs398123372
|
|
NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter)
|
rs1774541313
|
|
NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter)
|
|
|
NM_000426.4(LAMA2):c.370G>T (p.Val124Leu)
|
rs1278777348
|
|
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)
|
rs121913569
|
|
NM_000426.4(LAMA2):c.3735+1G>A
|
|
|
NM_000426.4(LAMA2):c.3736-2A>G
|
rs372715292
|
|
NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs)
|
rs750220830
|
|
NM_000426.4(LAMA2):c.3886_3889del (p.Ile1296fs)
|
rs1774572282
|
|
NM_000426.4(LAMA2):c.3896T>A (p.Leu1299Ter)
|
|
|
NM_000426.4(LAMA2):c.389del (p.Leu130fs)
|
|
|
NM_000426.4(LAMA2):c.3924+2T>C
|
rs1554269966
|
|
NM_000426.4(LAMA2):c.3938del (p.Tyr1313fs)
|
rs2114502928
|
|
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)
|
rs1180309541
|
|
NM_000426.4(LAMA2):c.397-4_478del
|
rs1554217494
|
|
NM_000426.4(LAMA2):c.3982del (p.Asp1328fs)
|
|
|
NM_000426.4(LAMA2):c.4019_4024dup (p.Ile1341_Lys1342insIleIle)
|
rs1554270059
|
|
NM_000426.4(LAMA2):c.4058+1G>A
|
rs2114503272
|
|
NM_000426.4(LAMA2):c.4097_4112del (p.Arg1366fs)
|
|
|
NM_000426.4(LAMA2):c.4106del (p.Thr1369fs)
|
|
|
NM_000426.4(LAMA2):c.4110delinsTTTTT (p.Met1370fs)
|
|
|
NM_000426.4(LAMA2):c.4140T>A (p.Cys1380Ter)
|
rs1774908660
|
|
NM_000426.4(LAMA2):c.4146T>A (p.Cys1382Ter)
|
rs1774908820
|
|
NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs)
|
|
|
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter)
|
rs775112258
|
|
NM_000426.4(LAMA2):c.4232G>A (p.Gly1411Glu)
|
rs727502850
|
|
NM_000426.4(LAMA2):c.424A>T (p.Lys142Ter)
|
rs1775300950
|
|
NM_000426.4(LAMA2):c.4255_4258dup (p.Cys1420fs)
|
rs2114532990
|
|
NM_000426.4(LAMA2):c.4285dup (p.Cys1429fs)
|
|
|
NM_000426.4(LAMA2):c.4294G>T (p.Glu1432Ter)
|
|
|
NM_000426.4(LAMA2):c.4319_4323del (p.Gln1440fs)
|
|
|
NM_000426.4(LAMA2):c.4378A>T (p.Lys1460Ter)
|
rs1776319116
|
|
NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr)
|
rs143680577
|
|
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)
|
rs143680577
|
|
NM_000426.4(LAMA2):c.4397_4398del (p.Cys1466fs)
|
|
|
NM_000426.4(LAMA2):c.442del (p.Arg148fs)
|
|
|
NM_000426.4(LAMA2):c.442dup (p.Arg148fs)
|
rs1775302275
|
|
NM_000426.4(LAMA2):c.4436+1G>C
|
rs376430565
|
|
NM_000426.4(LAMA2):c.4446del (p.Ser1483fs)
|
|
|
NM_000426.4(LAMA2):c.4459G>T (p.Glu1487Ter)
|
rs1776730034
|
|
NM_000426.4(LAMA2):c.4468GAC[1] (p.Asp1491del)
|
rs1554277753
|
|
NM_000426.4(LAMA2):c.4477C>T (p.Arg1493Cys)
|
rs751053800
|
|
NM_000426.4(LAMA2):c.4504G>T (p.Glu1502Ter)
|
|
|
NM_000426.4(LAMA2):c.4517G>C (p.Cys1506Ser)
|
rs1409043489
|
|
NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys)
|
rs770084568
|
|
NM_000426.4(LAMA2):c.4524-2A>T
|
rs1554278541
|
|
NM_000426.4(LAMA2):c.4561G>T (p.Gly1521Ter)
|
rs1776953529
|
|
NM_000426.4(LAMA2):c.4573C>T (p.Gln1525Ter)
|
rs1776953853
|
|
NM_000426.4(LAMA2):c.4576G>T (p.Glu1526Ter)
|
|
|
NM_000426.4(LAMA2):c.4601C>A (p.Ser1534Ter)
|
rs917205971
|
|
NM_000426.4(LAMA2):c.4630G>T (p.Gly1544Ter)
|
rs374207670
|
|
NM_000426.4(LAMA2):c.4660_4668del (p.Gly1554_Lys1556del)
|
rs1554278670
|
|
NM_000426.4(LAMA2):c.4682del (p.Lys1561fs)
|
rs1246940477
|
|
NM_000426.4(LAMA2):c.4688G>A (p.Trp1563Ter)
|
rs2114593621
|
|
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs)
|
rs774051471
|
|
NM_000426.4(LAMA2):c.4717+1G>C
|
rs1131691660
|
|
NM_000426.4(LAMA2):c.4717+1G>T
|
rs1131691660
|
|
NM_000426.4(LAMA2):c.4717+5G>A
|
rs776050258
|
|
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs)
|
rs1392196900
|
|
NM_000426.4(LAMA2):c.4743TCT[1] (p.Leu1583del)
|
rs1554281282
|
|
NM_000426.4(LAMA2):c.4752_4753del (p.Asp1585fs)
|
|
|
NM_000426.4(LAMA2):c.476ATG[1] (p.Asp160del)
|
rs1192484658
|
|
NM_000426.4(LAMA2):c.4819_4825del (p.Lys1607fs)
|
|
|
NM_000426.4(LAMA2):c.4837G>T (p.Glu1613Ter)
|
rs1247084547
|
|
NM_000426.4(LAMA2):c.4861-2A>G
|
rs2114627220
|
|
NM_000426.4(LAMA2):c.4861del (p.His1621fs)
|
|
|
NM_000426.4(LAMA2):c.4874C>T (p.Pro1625Leu)
|
|
|
NM_000426.4(LAMA2):c.4878del (p.Gln1626fs)
|
|
|
NM_000426.4(LAMA2):c.4886dup (p.Glu1630fs)
|
|
|
NM_000426.4(LAMA2):c.4913delinsAATAAAGAGAGACAGCA (p.Gly1638delinsGluTer)
|
|
|
NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter)
|
rs748541803
|
|
NM_000426.4(LAMA2):c.4945G>C (p.Glu1649Gln)
|
rs143215851
|
|
NM_000426.4(LAMA2):c.4959+1del
|
rs1583591577
|
|
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)
|
rs553221833
|
|
NM_000426.4(LAMA2):c.4993G>T (p.Gly1665Ter)
|
rs373997222
|
|
NM_000426.4(LAMA2):c.4996C>T (p.Gln1666Ter)
|
rs2114654019
|
|
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter)
|
rs1778794887
|
|
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter)
|
rs1008335405
|
|
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter)
|
rs201632009
|
|
NM_000426.4(LAMA2):c.5062del (p.Asp1688fs)
|
|
|
NM_000426.4(LAMA2):c.507_508insCAAGAGA (p.Ala170fs)
|
|
|
NM_000426.4(LAMA2):c.5085dup (p.Ala1696fs)
|
rs1351661862
|
|
NM_000426.4(LAMA2):c.5092A>T (p.Lys1698Ter)
|
rs1779318396
|
|
NM_000426.4(LAMA2):c.512_513del (p.Val171fs)
|
|
|
NM_000426.4(LAMA2):c.5155A>T (p.Lys1719Ter)
|
rs1779323338
|
|
NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs)
|
rs1554286963
|
|
NM_000426.4(LAMA2):c.5169GAT[1] (p.Met1724del)
|
rs1554286976
|
|
NM_000426.4(LAMA2):c.5181A>C (p.Glu1727Asp)
|
rs1779325827
|
|
NM_000426.4(LAMA2):c.5184del (p.Arg1729fs)
|
|
|
NM_000426.4(LAMA2):c.5235-18G>A
|
rs188365084
|
|
NM_000426.4(LAMA2):c.5235-1G>A
|
rs1779406142
|
|
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer)
|
rs1211739649
|
|
NM_000426.4(LAMA2):c.5266A>T (p.Lys1756Ter)
|
rs2114674584
|
|
NM_000426.4(LAMA2):c.5274del (p.Phe1758fs)
|
|
|
NM_000426.4(LAMA2):c.5284dup (p.Arg1762fs)
|
|
|
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs)
|
rs1415944134
|
|
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs)
|
rs768458445
|
|
NM_000426.4(LAMA2):c.5342del (p.Asn1781fs)
|
|
|
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter)
|
rs746201268
|
|
NM_000426.4(LAMA2):c.5443G>C (p.Glu1815Gln)
|
rs1554287445
|
|
NM_000426.4(LAMA2):c.5445+1G>A
|
rs1779423047
|
|
NM_000426.4(LAMA2):c.5449AAG[1] (p.Lys1818del)
|
rs1225610123
|
|
NM_000426.4(LAMA2):c.5460del (p.Val1821fs)
|
rs1562530132
|
|
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser)
|
rs56173620
|
|
NM_000426.4(LAMA2):c.5563-1G>A
|
|
|
NM_000426.4(LAMA2):c.5563-2A>G
|
rs786204779
|
|
NM_000426.4(LAMA2):c.5568_5569delinsA (p.Glu1857fs)
|
|
|
NM_000426.4(LAMA2):c.5578C>T (p.Gln1860Ter)
|
rs1165626901
|
|
NM_000426.4(LAMA2):c.5598G>T (p.Met1866Ile)
|
rs1554289926
|
|
NM_000426.4(LAMA2):c.5665_5667del (p.Lys1889del)
|
rs767066183
|
|
NM_000426.4(LAMA2):c.5673_5674del (p.Gln1892fs)
|
|
|
NM_000426.4(LAMA2):c.5674C>T (p.Gln1892Ter)
|
rs1462522184
|
|
NM_000426.4(LAMA2):c.569C>A (p.Ser190Ter)
|
rs1775311864
|
|
NM_000426.4(LAMA2):c.5836A>T (p.Lys1946Ter)
|
|
|
NM_000426.4(LAMA2):c.5851G>T (p.Glu1951Ter)
|
|
|
NM_000426.4(LAMA2):c.5865+2T>G
|
rs1554290316
|
|
NM_000426.4(LAMA2):c.5866-1G>A
|
rs1064797040
|
|
NM_000426.4(LAMA2):c.5866-2A>G
|
rs1554295204
|
|
NM_000426.4(LAMA2):c.5913_5914del (p.Gln1972fs)
|
|
|
NM_000426.4(LAMA2):c.5944A>T (p.Lys1982Ter)
|
rs1781398399
|
|
NM_000426.4(LAMA2):c.5954_5962dup (p.Ala1985_Asp1987dup)
|
rs1554295259
|
|
NM_000426.4(LAMA2):c.595T>A (p.Cys199Ser)
|
rs886043693
|
|
NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter)
|
rs1775313883
|
|
NM_000426.4(LAMA2):c.6030_6031del (p.Asp2011fs)
|
|
|
NM_000426.4(LAMA2):c.6103C>T (p.Gln2035Ter)
|
|
|
NM_000426.4(LAMA2):c.611C>A (p.Ser204Tyr)
|
rs1204310516
|
|
NM_000426.4(LAMA2):c.6146_6147del (p.Lys2049fs)
|
|
|
NM_000426.4(LAMA2):c.6147del (p.Asp2050fs)
|
|
|
NM_000426.4(LAMA2):c.6195GAA[2] (p.Lys2067del)
|
rs758495000
|
|
NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter)
|
rs1583756552
|
|
NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter)
|
rs886061039
|
|
NM_000426.4(LAMA2):c.6232A>T (p.Lys2078Ter)
|
|
|
NM_000426.4(LAMA2):c.6248_6249del (p.Val2083fs)
|
|
|
NM_000426.4(LAMA2):c.6260C>A (p.Ser2087Tyr)
|
rs1299914386
|
|
NM_000426.4(LAMA2):c.6262A>T (p.Lys2088Ter)
|
rs1782086229
|
|
NM_000426.4(LAMA2):c.6269-831C>T
|
rs371162111
|
|
NM_000426.4(LAMA2):c.6269-845C>T
|
rs1554297888
|
|
NM_000426.4(LAMA2):c.6269-848T>A
|
rs1554297884
|
|
NM_000426.4(LAMA2):c.6269-848T>C
|
rs1554297884
|
|
NM_000426.4(LAMA2):c.6269-849C>T
|
rs1554297881
|
|
NM_000426.4(LAMA2):c.6269-852A>C
|
rs766496312
|
|
NM_000426.4(LAMA2):c.6269-855A>C
|
rs1554297879
|
|
NM_000426.4(LAMA2):c.6269-855A>G
|
rs1554297879
|
|
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter)
|
rs1782333085
|
|
NM_000426.4(LAMA2):c.637G>T (p.Glu213Ter)
|
rs1775315900
|
|
NM_000426.4(LAMA2):c.640-6127A>G
|
|
|
NM_000426.4(LAMA2):c.6429+1G>C
|
rs1262029350
|
|
NM_000426.4(LAMA2):c.6449C>A (p.Ser2150Ter)
|
rs1782761474
|
|
NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter)
|
rs922640025
|
|
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs)
|
rs886039482
|
|
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del)
|
rs1363017615
|
|
NM_000426.4(LAMA2):c.6551T>C (p.Phe2184Ser)
|
rs398123381
|
|
NM_000426.4(LAMA2):c.6560del (p.Gly2187fs)
|
|
|
NM_000426.4(LAMA2):c.6573+1G>A
|
rs757435241
|
|
NM_000426.4(LAMA2):c.6573+1G>T
|
rs757435241
|
|
NM_000426.4(LAMA2):c.6623G>A (p.Trp2208Ter)
|
|
|
NM_000426.4(LAMA2):c.6636_6637del (p.Gly2213fs)
|
|
|
NM_000426.4(LAMA2):c.6643G>T (p.Gly2215Ter)
|
|
|
NM_000426.4(LAMA2):c.6687G>A (p.Trp2229Ter)
|
|
|
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter)
|
rs1583790201
|
|
NM_000426.4(LAMA2):c.6714_6722del (p.Arg2239_Gly2241del)
|
rs2114794775
|
|
NM_000426.4(LAMA2):c.6752C>A (p.Pro2251His)
|
rs546395293
|
|
NM_000426.4(LAMA2):c.6919_6920del (p.Tyr2307fs)
|
rs757404275
|
|
NM_000426.4(LAMA2):c.691G>T (p.Glu231Ter)
|
rs1778273068
|
|
NM_000426.4(LAMA2):c.6948G>A (p.Trp2316Ter)
|
|
|
NM_000426.4(LAMA2):c.6992+5G>A
|
rs1221715098
|
|
NM_000426.4(LAMA2):c.7003del (p.Glu2335fs)
|
|
|
NM_000426.4(LAMA2):c.7126_7127insA (p.Leu2376fs)
|
|
|
NM_000426.4(LAMA2):c.7142delinsGT (p.Ala2381fs)
|
|
|
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)
|
rs121913576
|
|
NM_000426.4(LAMA2):c.7215_7217delinsA (p.Ser2406fs)
|
|
|
NM_000426.4(LAMA2):c.7266G>A (p.Trp2422Ter)
|
rs1783482812
|
|
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs)
|
rs398123385
|
|
NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs)
|
|
|
NM_000426.4(LAMA2):c.7286_7288del (p.Arg2429del)
|
rs1350705904
|
|
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro)
|
rs1562273395
|
|
NM_000426.4(LAMA2):c.7296del (p.Lys2432fs)
|
|
|
NM_000426.4(LAMA2):c.7301-1G>A
|
|
|
NM_000426.4(LAMA2):c.731_732del (p.Arg244fs)
|
|
|
NM_000426.4(LAMA2):c.7339G>T (p.Glu2447Ter)
|
rs1377818460
|
|
NM_000426.4(LAMA2):c.7374del (p.Phe2458fs)
|
|
|
NM_000426.4(LAMA2):c.7390_7391delinsTT (p.Ala2464Leu)
|
rs1554303509
|
|
NM_000426.4(LAMA2):c.7444A>T (p.Lys2482Ter)
|
rs1554303937
|
|
NM_000426.4(LAMA2):c.7452-16T>G
|
|
|
NM_000426.4(LAMA2):c.7452-1G>A
|
rs1554304931
|
|
NM_000426.4(LAMA2):c.7473A>G (p.Lys2491=)
|
rs886038295
|
|
NM_000426.4(LAMA2):c.7489A>T (p.Lys2497Ter)
|
|
|
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)
|
rs1480934961
|
|
NM_000426.4(LAMA2):c.7578_7579del (p.Tyr2527fs)
|
|
|
NM_000426.4(LAMA2):c.7583_7584del (p.Thr2528fs)
|
|
|
NM_000426.4(LAMA2):c.7621_7622insTA (p.Pro2541fs)
|
|
|
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs)
|
rs1784335277
|
|
NM_000426.4(LAMA2):c.7658C>A (p.Ser2553Ter)
|
|
|
NM_000426.4(LAMA2):c.7675G>T (p.Glu2559Ter)
|
|
|
NM_000426.4(LAMA2):c.7692_7693insA (p.Leu2565fs)
|
|
|
NM_000426.4(LAMA2):c.7700G>C (p.Ser2567Thr)
|
rs1554305929
|
|
NM_000426.4(LAMA2):c.7749+1G>C
|
|
|
NM_000426.4(LAMA2):c.7750-1713_7899-2153del
|
|
|
NM_000426.4(LAMA2):c.7750-2A>G
|
rs778539477
|
|
NM_000426.4(LAMA2):c.7771_7772delinsT (p.Asn2591fs)
|
|
|
NM_000426.4(LAMA2):c.7778del (p.Gly2593fs)
|
rs2114848887
|
|
NM_000426.4(LAMA2):c.77AGC[4] (p.Gln28dup)
|
rs1554312698
|
|
NM_000426.4(LAMA2):c.77AGC[5] (p.Gln27_Gln28dup)
|
rs1554312698
|
|
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter)
|
rs766920075
|
|
NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter)
|
rs781316719
|
|
NM_000426.4(LAMA2):c.7834A>T (p.Arg2612Ter)
|
|
|
NM_000426.4(LAMA2):c.7870_7871dup (p.Ser2625fs)
|
rs2114849148
|
|
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln)
|
rs202247792
|
|
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)
|
rs727502851
|
|
NM_000426.4(LAMA2):c.7898+1G>A
|
rs1784599832
|
|
NM_000426.4(LAMA2):c.7899-1G>C
|
|
|
NM_000426.4(LAMA2):c.790A>T (p.Arg264Ter)
|
rs1778283565
|
|
NM_000426.4(LAMA2):c.7912C>T (p.Gln2638Ter)
|
rs1784882494
|
|
NM_000426.4(LAMA2):c.7933_7941del (p.Tyr2645_Gln2647del)
|
rs762065775
|
|
NM_000426.4(LAMA2):c.7976del (p.Lys2659fs)
|
|
|
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs)
|
rs886039541
|
|
NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter)
|
rs1784888496
|
|
NM_000426.4(LAMA2):c.8075+1G>A
|
rs1055407857
|
|
NM_000426.4(LAMA2):c.8075+2dup
|
rs2114859967
|
|
NM_000426.4(LAMA2):c.8076-1G>A
|
rs1554310169
|
|
NM_000426.4(LAMA2):c.8079dup (p.Met2694fs)
|
|
|
NM_000426.4(LAMA2):c.8096del (p.Pro2699fs)
|
rs1784912657
|
|
NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter)
|
rs1289855948
|
|
NM_000426.4(LAMA2):c.8169_8173del (p.Ala2723_Pro2724insTer)
|
rs1554310242
|
|
NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter)
|
rs886043648
|
|
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter)
|
rs1784919273
|
|
NM_000426.4(LAMA2):c.819+1G>A
|
rs1554226186
|
|
NM_000426.4(LAMA2):c.819+2dup
|
rs765817742
|
|
NM_000426.4(LAMA2):c.820-1G>A
|
rs1370654793
|
|
NM_000426.4(LAMA2):c.8206_8209del (p.Thr2736fs)
|
|
|
NM_000426.4(LAMA2):c.8244+2dup
|
rs1554310330
|
|
NM_000426.4(LAMA2):c.8244+3_8244+6del
|
rs746678525
|
|
NM_000426.4(LAMA2):c.8245-2A>G
|
rs914395925
|
|
NM_000426.4(LAMA2):c.8256del (p.Ala2753fs)
|
|
|
NM_000426.4(LAMA2):c.825del (p.Tyr276fs)
|
rs1562275792
|
|
NM_000426.4(LAMA2):c.8265del (p.Glu2756fs)
|
|
|
NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter)
|
rs1028599119
|
|
NM_000426.4(LAMA2):c.8377_8383del (p.Val2793fs)
|
|
|
NM_000426.4(LAMA2):c.8380_8383del (p.Arg2794fs)
|
rs2114890786
|
|
NM_000426.4(LAMA2):c.8430_8431insAG (p.Ala2811fs)
|
|
|
NM_000426.4(LAMA2):c.8484C>G (p.Asp2828Glu)
|
rs1785788819
|
|
NM_000426.4(LAMA2):c.8540G>A (p.Trp2847Ter)
|
|
|
NM_000426.4(LAMA2):c.8542del (p.His2848fs)
|
|
|
NM_000426.4(LAMA2):c.8548-2A>G
|
rs369224209
|
|
NM_000426.4(LAMA2):c.8556_8558del (p.Ile2852del)
|
rs398123389
|
|
NM_000426.4(LAMA2):c.8591A>T (p.Asp2864Val)
|
rs778258870
|
|
NM_000426.4(LAMA2):c.8597_8598insAA (p.Ser2867fs)
|
|
|
NM_000426.4(LAMA2):c.8603dup (p.Asn2868fs)
|
|
|
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs)
|
rs2114900655
|
|
NM_000426.4(LAMA2):c.861C>A (p.Cys287Ter)
|
|
|
NM_000426.4(LAMA2):c.8625dup (p.Ala2876fs)
|
|
|
NM_000426.4(LAMA2):c.8654T>C (p.Leu2885Pro)
|
rs1554316199
|
|
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg)
|
rs886039896
|
|
NM_000426.4(LAMA2):c.8710_8712dup (p.Tyr2904dup)
|
rs1554317110
|
|
NM_000426.4(LAMA2):c.8712T>A (p.Tyr2904Ter)
|
|
|
NM_000426.4(LAMA2):c.8714_8715insGTGACG (p.Ser2905delinsArgTer)
|
rs2114910650
|
|
NM_000426.4(LAMA2):c.8716_8717insCCA (p.Ser2905_Ile2906insThr)
|
rs1554317120
|
|
NM_000426.4(LAMA2):c.872G>C (p.Gly291Ala)
|
rs1554226736
|
|
NM_000426.4(LAMA2):c.872del (p.Gly291fs)
|
rs1222620175
|
|
NM_000426.4(LAMA2):c.8768AAC[1] (p.Gln2924del)
|
rs1554317173
|
|
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter)
|
rs1034133545
|
|
NM_000426.4(LAMA2):c.8781del (p.Ser2928fs)
|
|
|
NM_000426.4(LAMA2):c.8787_8793del (p.Phe2929fs)
|
|
|
NM_000426.4(LAMA2):c.8849_8857+1del
|
|
|
NM_000426.4(LAMA2):c.8858-1G>A
|
rs1554319117
|
|
NM_000426.4(LAMA2):c.8876G>C (p.Gly2959Ala)
|
rs1393350402
|
|
NM_000426.4(LAMA2):c.8953dup (p.Met2985fs)
|
|
|
NM_000426.4(LAMA2):c.8958_8961del (p.Asp2986fs)
|
|
|
NM_000426.4(LAMA2):c.8979_8982dup (p.Glu2995Ter)
|
|
|
NM_000426.4(LAMA2):c.8989-15T>G
|
rs372370665
|
|
NM_000426.4(LAMA2):c.8992_8994dup (p.Met2998dup)
|
rs1437850233
|
|
NM_000426.4(LAMA2):c.908dup (p.Asn303fs)
|
rs2114964219
|
|
NM_000426.4(LAMA2):c.9095dup (p.Ile3033fs)
|
rs1554320205
|
|
NM_000426.4(LAMA2):c.9128G>A (p.Gly3043Glu)
|
rs762958440
|
|
NM_000426.4(LAMA2):c.917G>A (p.Arg306His)
|
rs1023922833
|
|
NM_000426.4(LAMA2):c.9211+1G>A
|
rs1554320318
|
|
NM_000426.4(LAMA2):c.9212-2A>G
|
rs1554321125
|
|
NM_000426.4(LAMA2):c.9221del (p.Lys3074fs)
|
|
|
NM_000426.4(LAMA2):c.9223C>T (p.Gln3075Ter)
|
rs771012835
|
|
NM_000426.4(LAMA2):c.9227_9243dup (p.Ile3082delinsLeuAlaTer)
|
|
|
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)
|
rs121913571
|
|
NM_000426.4(LAMA2):c.9266_9283dup (p.Arg3089_Thr3094dup)
|
rs1554321180
|
|
NM_000426.4(LAMA2):c.938_939del (p.Thr313fs)
|
rs2114967814
|
|
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)
|
rs1554227092
|
|
NM_000426.4(LAMA2):c.966T>A (p.Cys322Ter)
|
|
|
NM_000426.4(LAMA2):c.987del (p.Trp330fs)
|
|
|
NM_000426.4:c.(6992+1_6993-1)_(7300+1_7301-1)del
|
|
|
NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys)
|
rs774919231
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.14713C>A (p.Pro4905Thr)
|
rs1057518924
|
|
NM_001077365.2(POMT1):c.*285A>G
|
rs4740259
|
|
NM_001077365.2(POMT1):c.*330G>A
|
rs556148765
|
|
NM_001077365.2(POMT1):c.*370C>G
|
rs1950358020
|
|
NM_001077365.2(POMT1):c.*381G>A
|
rs57955153
|
|
NM_001077365.2(POMT1):c.-83C>T
|
rs550740786
|
|
NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)
|
|
|
NM_001077365.2(POMT1):c.101_102insTA (p.Tyr36fs)
|
|
|
NM_001077365.2(POMT1):c.1020A>G (p.Gln340=)
|
|
|
NM_001077365.2(POMT1):c.1029C>A (p.Thr343=)
|
|
|
NM_001077365.2(POMT1):c.1029C>T (p.Thr343=)
|
|
|
NM_001077365.2(POMT1):c.1031G>A (p.Cys344Tyr)
|
|
|
NM_001077365.2(POMT1):c.1038del (p.Phe347fs)
|
|
|
NM_001077365.2(POMT1):c.103dup (p.Thr35fs)
|
|
|
NM_001077365.2(POMT1):c.1044A>G (p.Lys348=)
|
|
|
NM_001077365.2(POMT1):c.105C>A (p.Thr35=)
|
|
|
NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)
|
|
|
NM_001077365.2(POMT1):c.1076C>T (p.Pro359Leu)
|
rs1292313849
|
|
NM_001077365.2(POMT1):c.1078A>C (p.Arg360=)
|
|
|
NM_001077365.2(POMT1):c.1082+11G>C
|
|
|
NM_001077365.2(POMT1):c.1082+14_1082+33del
|
|
|
NM_001077365.2(POMT1):c.1082+18G>C
|
|
|
NM_001077365.2(POMT1):c.1082+19A>T
|
rs1454823245
|
|
NM_001077365.2(POMT1):c.1082+9A>G
|
|
|
NM_001077365.2(POMT1):c.1083-11G>A
|
|
|
NM_001077365.2(POMT1):c.1083-20G>A
|
|
|
NM_001077365.2(POMT1):c.1083-7C>G
|
rs1428085460
|
|
NM_001077365.2(POMT1):c.1083-9_1083-8del
|
rs781619064
|
|
NM_001077365.2(POMT1):c.1086C>T (p.His362=)
|
|
|
NM_001077365.2(POMT1):c.1091del (p.Leu364fs)
|
rs1947522752
|
|
NM_001077365.2(POMT1):c.1092G>A (p.Leu364=)
|
|
|
NM_001077365.2(POMT1):c.1093_1094insGGAGCACGGTGTGGAACGTGGG (p.Val365fs)
|
rs2131707009
|
|
NM_001077365.2(POMT1):c.1100G>T (p.Ser367Ile)
|
|
|
NM_001077365.2(POMT1):c.1105C>T (p.Pro369Ser)
|
rs2131707245
|
|
NM_001077365.2(POMT1):c.1110G>A (p.Pro370=)
|
|
|
NM_001077365.2(POMT1):c.1110G>T (p.Pro370=)
|
rs766759606
|
|
NM_001077365.2(POMT1):c.111G>A (p.Pro37=)
|
rs761641734
|
|
NM_001077365.2(POMT1):c.111G>T (p.Pro37=)
|
|
|
NM_001077365.2(POMT1):c.1125C>G (p.His375Gln)
|
rs35242383
|
|
NM_001077365.2(POMT1):c.1128G>A (p.Gly376=)
|
|
|
NM_001077365.2(POMT1):c.1136_1137dup (p.Gln380fs)
|
|
|
NM_001077365.2(POMT1):c.1145del (p.Val382fs)
|
|
|
NM_001077365.2(POMT1):c.1146C>T (p.Val382=)
|
rs757429050
|
|
NM_001077365.2(POMT1):c.1152C>T (p.Gly384=)
|
|
|
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys)
|
rs748087053
|
|
NM_001077365.2(POMT1):c.116C>A (p.Ala39Asp)
|
rs2131555907
|
|
NM_001077365.2(POMT1):c.116C>G (p.Ala39Gly)
|
|
|
NM_001077365.2(POMT1):c.1175+10C>T
|
rs1292261993
|
|
NM_001077365.2(POMT1):c.1175+12C>T
|
rs890396848
|
|
NM_001077365.2(POMT1):c.1175+14C>T
|
|
|
NM_001077365.2(POMT1):c.1175+14_1175+16del
|
|
|
NM_001077365.2(POMT1):c.1175+16G>C
|
|
|
NM_001077365.2(POMT1):c.1175+18C>A
|
|
|
NM_001077365.2(POMT1):c.1175+2dup
|
rs886041907
|
|
NM_001077365.2(POMT1):c.1175+3del
|
rs2131708682
|
|
NM_001077365.2(POMT1):c.1175+4_1175+7del
|
rs1588409344
|
|
NM_001077365.2(POMT1):c.1175+7G>T
|
|
|
NM_001077365.2(POMT1):c.1176-16G>A
|
rs199684856
|
|
NM_001077365.2(POMT1):c.1176-16G>C
|
rs199684856
|
|
NM_001077365.2(POMT1):c.1176-17C>G
|
|
|
NM_001077365.2(POMT1):c.1176-19C>G
|
|
|
NM_001077365.2(POMT1):c.1176G>C (p.Thr392=)
|
rs1588427953
|
|
NM_001077365.2(POMT1):c.1181A>G (p.Asp394Gly)
|
rs2131748341
|
|
NM_001077365.2(POMT1):c.1182dup (p.Val395fs)
|
|
|
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp)
|
rs1564364465
|
|
NM_001077365.2(POMT1):c.1194C>A (p.Pro398=)
|
rs371653610
|
|
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=)
|
rs371653610
|
|
NM_001077365.2(POMT1):c.1194C>T (p.Pro398=)
|
|
|
NM_001077365.2(POMT1):c.1194_1196del (p.Leu399del)
|
rs587777818
|
|
NM_001077365.2(POMT1):c.1195C>T (p.Leu399=)
|
|
|
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
|
|
|
NM_001077365.2(POMT1):c.1197G>A (p.Leu399=)
|
rs764535220
|
|
NM_001077365.2(POMT1):c.1197G>C (p.Leu399=)
|
rs764535220
|
|
NM_001077365.2(POMT1):c.1200C>T (p.Ser400=)
|
rs886043851
|
|
NM_001077365.2(POMT1):c.1202C>T (p.Pro401Leu)
|
|
|
NM_001077365.2(POMT1):c.1203C>T (p.Pro401=)
|
|
|
NM_001077365.2(POMT1):c.1204dup (p.His402fs)
|
rs2131749139
|
|
NM_001077365.2(POMT1):c.1206T>C (p.His402=)
|
|
|
NM_001077365.2(POMT1):c.120G>A (p.Val40=)
|
|
|
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter)
|
rs1554778005
|
|
NM_001077365.2(POMT1):c.1211dup (p.Glu405fs)
|
|
|
NM_001077365.2(POMT1):c.122+10A>G
|
|
|
NM_001077365.2(POMT1):c.122+13_122+20dup
|
|
|
NM_001077365.2(POMT1):c.122+14C>T
|
|
|
NM_001077365.2(POMT1):c.122+15T>C
|
|
|
NM_001077365.2(POMT1):c.122+5G>A
|
rs376753193
|
|
NM_001077365.2(POMT1):c.122+7T>C
|
|
|
NM_001077365.2(POMT1):c.1221C>T (p.Ser407=)
|
rs1172989588
|
|
NM_001077365.2(POMT1):c.1224C>T (p.Cys408=)
|
rs1392371349
|
|
NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys)
|
rs1948104184
|
|
NM_001077365.2(POMT1):c.1229T>C (p.Ile410Thr)
|
rs1554778053
|
|
NM_001077365.2(POMT1):c.123-11T>G
|
|
|
NM_001077365.2(POMT1):c.123-14G>T
|
|
|
NM_001077365.2(POMT1):c.123-17G>A
|
|
|
NM_001077365.2(POMT1):c.123-18T>G
|
|
|
NM_001077365.2(POMT1):c.123-18del
|
rs1564331634
|
|
NM_001077365.2(POMT1):c.123-19T>C
|
|
|
NM_001077365.2(POMT1):c.123-20GTT[2]
|
rs769392387
|
|
NM_001077365.2(POMT1):c.123-4C>T
|
|
|
NM_001077365.2(POMT1):c.123-5T>C
|
|
|
NM_001077365.2(POMT1):c.123-5del
|
|
|
NM_001077365.2(POMT1):c.123-5dup
|
rs148086540
|
|
NM_001077365.2(POMT1):c.123-6_123-5dup
|
rs148086540
|
|
NM_001077365.2(POMT1):c.123-7T>C
|
|
|
NM_001077365.2(POMT1):c.1235dup (p.Tyr412Ter)
|
|
|
NM_001077365.2(POMT1):c.1248G>T (p.Met416Ile)
|
|
|
NM_001077365.2(POMT1):c.1249C>T (p.Pro417Ser)
|
rs1948110753
|
|
NM_001077365.2(POMT1):c.1251C>A (p.Pro417=)
|
rs376749638
|
|
NM_001077365.2(POMT1):c.1252G>T (p.Ala418Ser)
|
rs142057517
|
|
NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup)
|
rs773942978
|
|
NM_001077365.2(POMT1):c.1263C>T (p.Leu421=)
|
|
|
NM_001077365.2(POMT1):c.1272+10G>A
|
|
|
NM_001077365.2(POMT1):c.1272+11C>A
|
|
|
NM_001077365.2(POMT1):c.1272+14C>A
|
|
|
NM_001077365.2(POMT1):c.1272+14C>T
|
rs775878866
|
|
NM_001077365.2(POMT1):c.1272+15G>A
|
|
|
NM_001077365.2(POMT1):c.1272+1G>A
|
rs2131751359
|
|
NM_001077365.2(POMT1):c.1272+2T>C
|
rs1564365317
|
|
NM_001077365.2(POMT1):c.1272+2dup
|
|
|
NM_001077365.2(POMT1):c.1272+7A>G
|
|
|
NM_001077365.2(POMT1):c.1272+8A>G
|
rs1948118898
|
|
NM_001077365.2(POMT1):c.1272G>T (p.Leu424=)
|
|
|
NM_001077365.2(POMT1):c.1273-10del
|
rs2131847588
|
|
NM_001077365.2(POMT1):c.1273-11del
|
|
|
NM_001077365.2(POMT1):c.1273-15G>A
|
|
|
NM_001077365.2(POMT1):c.1273-17G>C
|
|
|
NM_001077365.2(POMT1):c.1273-18T>C
|
|
|
NM_001077365.2(POMT1):c.1273-2A>G
|
|
|
NM_001077365.2(POMT1):c.1273-9T>C
|
|
|
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)
|
|
|
NM_001077365.2(POMT1):c.1293T>C (p.Ser431=)
|
|
|
NM_001077365.2(POMT1):c.1296C>T (p.Asp432=)
|
|
|
NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs)
|
|
|
NM_001077365.2(POMT1):c.1311G>A (p.Lys437=)
|
rs1949210371
|
|
NM_001077365.2(POMT1):c.1318C>T (p.Leu440Phe)
|
|
|
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=)
|
rs753403833
|
|
NM_001077365.2(POMT1):c.1326G>A (p.Glu442=)
|
rs764970702
|
|
NM_001077365.2(POMT1):c.1335T>G (p.Phe445Leu)
|
rs2131848570
|
|
NM_001077365.2(POMT1):c.1344G>A (p.Val448=)
|
|
|
NM_001077365.2(POMT1):c.1346A>G (p.Asn449Ser)
|
|
|
NM_001077365.2(POMT1):c.1347C>T (p.Asn449=)
|
|
|
NM_001077365.2(POMT1):c.1348A>T (p.Thr450Ser)
|
rs2131848872
|
|
NM_001077365.2(POMT1):c.1349C>A (p.Thr450Asn)
|
rs757785909
|
|
NM_001077365.2(POMT1):c.1352C>T (p.Ser451Phe)
|
rs890463115
|
|
NM_001077365.2(POMT1):c.1353C>T (p.Ser451=)
|
|
|
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)
|
rs1554780670
|
|
NM_001077365.2(POMT1):c.1364del (p.Lys455fs)
|
rs1472946513
|
|
NM_001077365.2(POMT1):c.1365+11T>C
|
|
|
NM_001077365.2(POMT1):c.1365+14C>T
|
|
|
NM_001077365.2(POMT1):c.1365+16G>A
|
|
|
NM_001077365.2(POMT1):c.1365+9A>G
|
rs2131849509
|
|
NM_001077365.2(POMT1):c.1366-12_1366-11dup
|
|
|
NM_001077365.2(POMT1):c.1366-20C>T
|
|
|
NM_001077365.2(POMT1):c.1371C>G (p.Ser457Arg)
|
rs746412899
|
|
NM_001077365.2(POMT1):c.1380C>T (p.His460=)
|
|
|
NM_001077365.2(POMT1):c.1384C>T (p.Pro462Ser)
|
rs1347678628
|
|
NM_001077365.2(POMT1):c.138T>C (p.Tyr46=)
|
|
|
NM_001077365.2(POMT1):c.1390T>C (p.Trp464Arg)
|
|
|
NM_001077365.2(POMT1):c.1390T>G (p.Trp464Gly)
|
rs376126988
|
|
NM_001077365.2(POMT1):c.1392G>C (p.Trp464Cys)
|
|
|
NM_001077365.2(POMT1):c.1399C>T (p.Arg467Trp)
|
rs770668718
|
|
NM_001077365.2(POMT1):c.139T>G (p.Tyr47Asp)
|
rs1945758260
|
|
NM_001077365.2(POMT1):c.1413C>A (p.Ile471=)
|
rs769288290
|
|
NM_001077365.2(POMT1):c.1413C>T (p.Ile471=)
|
|
|
NM_001077365.2(POMT1):c.1417G>C (p.Gly473Arg)
|
rs376882399
|
|
NM_001077365.2(POMT1):c.1419G>A (p.Gly473=)
|
|
|
NM_001077365.2(POMT1):c.1426C>G (p.Leu476Val)
|
rs1949310812
|
|
NM_001077365.2(POMT1):c.1436G>C (p.Gly479Ala)
|
rs1949313840
|
|
NM_001077365.2(POMT1):c.1436del (p.Gly479fs)
|
|
|
NM_001077365.2(POMT1):c.1441C>A (p.His481Asn)
|
|
|
NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter)
|
rs1191391104
|
|
NM_001077365.2(POMT1):c.1458G>A (p.Trp486Ter)
|
|
|
NM_001077365.2(POMT1):c.145del (p.Gln49fs)
|
|
|
NM_001077365.2(POMT1):c.1465GAG[1] (p.Glu490del)
|
rs1949322859
|
|
NM_001077365.2(POMT1):c.1469A>C (p.Glu490Ala)
|
rs2131857011
|
|
NM_001077365.2(POMT1):c.1470G>A (p.Glu490=)
|
|
|
NM_001077365.2(POMT1):c.1473C>T (p.His491=)
|
rs770742841
|
|
NM_001077365.2(POMT1):c.1474C>A (p.Arg492=)
|
|
|
NM_001077365.2(POMT1):c.1477_1486del (p.Tyr493fs)
|
|
|
NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter)
|
rs727502854
|
|
NM_001077365.2(POMT1):c.1482C>T (p.Gly494=)
|
|
|
NM_001077365.2(POMT1):c.1484C>A (p.Ala495Glu)
|
rs761439623
|
|
NM_001077365.2(POMT1):c.1486+11G>T
|
rs755682718
|
|
NM_001077365.2(POMT1):c.1486+12G>C
|
|
|
NM_001077365.2(POMT1):c.1486+13C>T
|
|
|
NM_001077365.2(POMT1):c.1486+18C>T
|
|
|
NM_001077365.2(POMT1):c.1486+20T>G
|
|
|
NM_001077365.2(POMT1):c.1486+8C>T
|
|
|
NM_001077365.2(POMT1):c.1486+9G>T
|
|
|
NM_001077365.2(POMT1):c.1487-10G>A
|
|
|
NM_001077365.2(POMT1):c.1487-18C>T
|
|
|
NM_001077365.2(POMT1):c.1497G>A (p.Gln499=)
|
|
|
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4])
|
rs727502853
|
|
NM_001077365.2(POMT1):c.1507G>A (p.Glu503Lys)
|
rs2131866665
|
|
NM_001077365.2(POMT1):c.1510C>A (p.Arg504=)
|
|
|
NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe)
|
rs886044651
|
|
NM_001077365.2(POMT1):c.1521C>G (p.His507Gln)
|
|
|
NM_001077365.2(POMT1):c.1524dup (p.Pro509fs)
|
|
|
NM_001077365.2(POMT1):c.1525C>G (p.Pro509Ala)
|
rs140398617
|
|
NM_001077365.2(POMT1):c.1530G>A (p.Ala510=)
|
|
|
NM_001077365.2(POMT1):c.1535T>A (p.Val512Glu)
|
|
|
NM_001077365.2(POMT1):c.1536G>A (p.Val512=)
|
rs1949458706
|
|
NM_001077365.2(POMT1):c.1538A>C (p.Asp513Ala)
|
|
|
NM_001077365.2(POMT1):c.1539C>T (p.Asp513=)
|
|
|
NM_001077365.2(POMT1):c.1540G>A (p.Val514Ile)
|
rs984288781
|
|
NM_001077365.2(POMT1):c.154T>C (p.Ser52Pro)
|
rs1554771665
|
|
NM_001077365.2(POMT1):c.1550del (p.Asn517fs)
|
|
|
NM_001077365.2(POMT1):c.1551C>T (p.Asn517=)
|
|
|
NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly)
|
rs1564381465
|
|
NM_001077365.2(POMT1):c.1560C>T (p.Phe520=)
|
rs1588476051
|
|
NM_001077365.2(POMT1):c.1566G>A (p.Ala522=)
|
|
|
NM_001077365.2(POMT1):c.1570T>A (p.Phe524Ile)
|
|
|
NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys)
|
rs1949475355
|
|
NM_001077365.2(POMT1):c.1581G>A (p.Leu527=)
|
rs1378023866
|
|
NM_001077365.2(POMT1):c.1584+13C>T
|
rs2131869164
|
|
NM_001077365.2(POMT1):c.1584+14A>G
|
|
|
NM_001077365.2(POMT1):c.1584+14del
|
|
|
NM_001077365.2(POMT1):c.1584+16G>T
|
|
|
NM_001077365.2(POMT1):c.1584+18G>A
|
|
|
NM_001077365.2(POMT1):c.1584+18dup
|
|
|
NM_001077365.2(POMT1):c.1584+20A>G
|
|
|
NM_001077365.2(POMT1):c.1585-16C>T
|
|
|
NM_001077365.2(POMT1):c.1585-16CT[3]
|
|
|
NM_001077365.2(POMT1):c.1585-18G>C
|
|
|
NM_001077365.2(POMT1):c.1585-19G>A
|
|
|
NM_001077365.2(POMT1):c.1585-20A>C
|
|
|
NM_001077365.2(POMT1):c.1585-2A>G
|
rs2131880195
|
|
NM_001077365.2(POMT1):c.1585T>C (p.Trp529Arg)
|
rs1949610411
|
|
NM_001077365.2(POMT1):c.1599G>A (p.Ala533=)
|
|
|
NM_001077365.2(POMT1):c.1602G>C (p.Leu534=)
|
|
|
NM_001077365.2(POMT1):c.1605A>G (p.Arg535=)
|
|
|
NM_001077365.2(POMT1):c.1608T>G (p.Ser536Arg)
|
rs1588482215
|
|
NM_001077365.2(POMT1):c.160_161insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTACATCTCTTTTT (p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer)
|
rs2131588122
|
|
NM_001077365.2(POMT1):c.1611T>C (p.Asp537=)
|
|
|
NM_001077365.2(POMT1):c.1629C>T (p.Tyr543=)
|
|
|
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
|
|
|
NM_001077365.2(POMT1):c.162C>T (p.Tyr54=)
|
|
|
NM_001077365.2(POMT1):c.1634C>G (p.Ser545Cys)
|
|
|
NM_001077365.2(POMT1):c.1637G>A (p.Ser546Asn)
|
|
|
NM_001077365.2(POMT1):c.1637G>C (p.Ser546Thr)
|
rs1949619639
|
|
NM_001077365.2(POMT1):c.1638C>G (p.Ser546Arg)
|
rs2131881044
|
|
NM_001077365.2(POMT1):c.1641A>C (p.Pro547=)
|
rs932156935
|
|
NM_001077365.2(POMT1):c.1644G>A (p.Leu548=)
|
rs2131881178
|
|
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=)
|
rs757830349
|
|
NM_001077365.2(POMT1):c.1657del (p.Leu553fs)
|
rs794727190
|
|
NM_001077365.2(POMT1):c.1658T>C (p.Leu553Pro)
|
rs777490066
|
|
NM_001077365.2(POMT1):c.1664C>T (p.Thr555Ile)
|
|
|
NM_001077365.2(POMT1):c.1667A>G (p.Asn556Ser)
|
|
|
NM_001077365.2(POMT1):c.1667del (p.Asn556fs)
|
|
|
NM_001077365.2(POMT1):c.1671del (p.Ile557fs)
|
rs1949626483
|
|
NM_001077365.2(POMT1):c.1672G>T (p.Ala558Ser)
|
|
|
NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys)
|
rs119462984
|
|
NM_001077365.2(POMT1):c.1683G>A (p.Leu561=)
|
|
|
NM_001077365.2(POMT1):c.168A>G (p.Lys56=)
|
|
|
NM_001077365.2(POMT1):c.1695C>A (p.Thr565=)
|
|
|
NM_001077365.2(POMT1):c.1698+10C>T
|
|
|
NM_001077365.2(POMT1):c.1698+11G>A
|
|
|
NM_001077365.2(POMT1):c.1698+11G>C
|
rs115243626
|
|
NM_001077365.2(POMT1):c.1698+17G>A
|
|
|
NM_001077365.2(POMT1):c.1698+2dup
|
|
|
NM_001077365.2(POMT1):c.1698+7G>T
|
|
|
NM_001077365.2(POMT1):c.1699-10del
|
|
|
NM_001077365.2(POMT1):c.1699-11T>C
|
|
|
NM_001077365.2(POMT1):c.1699-11T>G
|
|
|
NM_001077365.2(POMT1):c.1699-12A>G
|
|
|
NM_001077365.2(POMT1):c.1699-1G>A
|
rs1949874222
|
|
NM_001077365.2(POMT1):c.1699-20C>G
|
|
|
NM_001077365.2(POMT1):c.1699-20C>T
|
|
|
NM_001077365.2(POMT1):c.1699-7C>T
|
rs764871902
|
|
NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter)
|
rs1945766589
|
|
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)
|
rs119462986
|
|
NM_001077365.2(POMT1):c.1705A>C (p.Ile569Leu)
|
rs1588493803
|
|
NM_001077365.2(POMT1):c.1715T>G (p.Leu572Arg)
|
|
|
NM_001077365.2(POMT1):c.171A>G (p.Gln57=)
|
|
|
NM_001077365.2(POMT1):c.1724_1725del (p.Ile575fs)
|
|
|
NM_001077365.2(POMT1):c.1731C>A (p.Ile577=)
|
|
|
NM_001077365.2(POMT1):c.1733G>A (p.Trp578Ter)
|
|
|
NM_001077365.2(POMT1):c.1735G>C (p.Val579Leu)
|
rs1588494128
|
|
NM_001077365.2(POMT1):c.1740G>C (p.Ser580=)
|
|
|
NM_001077365.2(POMT1):c.1743C>A (p.Gly581=)
|
|
|
NM_001077365.2(POMT1):c.1745G>C (p.Ser582Thr)
|
|
|
NM_001077365.2(POMT1):c.1749C>G (p.Leu583=)
|
rs755379319
|
|
NM_001077365.2(POMT1):c.1749C>T (p.Leu583=)
|
rs755379319
|
|
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del)
|
rs750195040
|
|
NM_001077365.2(POMT1):c.1758del (p.Ile587fs)
|
|
|
NM_001077365.2(POMT1):c.1767C>G (p.Ala589=)
|
|
|
NM_001077365.2(POMT1):c.1768C>G (p.Leu590Val)
|
|
|
NM_001077365.2(POMT1):c.1770G>A (p.Leu590=)
|
|
|
NM_001077365.2(POMT1):c.1778T>C (p.Leu593Ser)
|
|
|
NM_001077365.2(POMT1):c.1781G>A (p.Trp594Ter)
|
|
|
NM_001077365.2(POMT1):c.1786C>T (p.Leu596=)
|
|
|
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu)
|
rs1564332130
|
|
NM_001077365.2(POMT1):c.1791C>G (p.Leu597=)
|
|
|
NM_001077365.2(POMT1):c.1797G>A (p.Arg599=)
|
rs2131904951
|
|
NM_001077365.2(POMT1):c.1799G>A (p.Arg600Gln)
|
rs753485021
|
|
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu)
|
rs753485021
|
|
NM_001077365.2(POMT1):c.1806T>C (p.Asn602=)
|
rs2131905242
|
|
NM_001077365.2(POMT1):c.1821_1822dup (p.Gln608fs)
|
|
|
NM_001077365.2(POMT1):c.1825+11C>G
|
|
|
NM_001077365.2(POMT1):c.1825+12T>C
|
|
|
NM_001077365.2(POMT1):c.1825+18A>G
|
|
|
NM_001077365.2(POMT1):c.1825+22_1825+48del
|
|
|
NM_001077365.2(POMT1):c.1825+2T>C
|
|
|
NM_001077365.2(POMT1):c.1825+3_1825+16del
|
|
|
NM_001077365.2(POMT1):c.1825+4A>C
|
|
|
NM_001077365.2(POMT1):c.1825+8C>T
|
|
|
NM_001077365.2(POMT1):c.1825+9C>A
|
|
|
NM_001077365.2(POMT1):c.1826-10T>C
|
|
|
NM_001077365.2(POMT1):c.1826-13C>A
|
|
|
NM_001077365.2(POMT1):c.1826-4A>G
|
|
|
NM_001077365.2(POMT1):c.1826-7C>T
|
|
|
NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA
|
rs1064793740
|
|
NM_001077365.2(POMT1):c.1827T>C (p.Asp609=)
|
|
|
NM_001077365.2(POMT1):c.1830C>T (p.Ala610=)
|
|
|
NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs)
|
rs1315540509
|
|
NM_001077365.2(POMT1):c.1838G>T (p.Arg613Leu)
|
|
|
NM_001077365.2(POMT1):c.183G>A (p.Leu61=)
|
rs1945769344
|
|
NM_001077365.2(POMT1):c.1842_1860dup (p.Cys621fs)
|
|
|
NM_001077365.2(POMT1):c.1847_1865dup (p.Gly624fs)
|
|
|
NM_001077365.2(POMT1):c.1848G>C (p.Leu616=)
|
rs370443246
|
|
NM_001077365.2(POMT1):c.1857G>A (p.Ala619=)
|
|
|
NM_001077365.2(POMT1):c.1858C>T (p.Leu620=)
|
|
|
NM_001077365.2(POMT1):c.1867G>C (p.Gly623Arg)
|
|
|
NM_001077365.2(POMT1):c.1869T>C (p.Gly623=)
|
|
|
NM_001077365.2(POMT1):c.1871_1872del (p.Gly624fs)
|
|
|
NM_001077365.2(POMT1):c.1890C>T (p.Leu630=)
|
rs1007091999
|
|
NM_001077365.2(POMT1):c.1907A>G (p.Glu636Gly)
|
rs1322926242
|
|
NM_001077365.2(POMT1):c.1917_1918del (p.Phe640fs)
|
|
|
NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe)
|
rs777437871
|
|
NM_001077365.2(POMT1):c.1937C>T (p.Pro646Leu)
|
rs2131922893
|
|
NM_001077365.2(POMT1):c.1941A>G (p.Ala647=)
|
|
|
NM_001077365.2(POMT1):c.1951C>T (p.Gln651Ter)
|
|
|
NM_001077365.2(POMT1):c.195G>A (p.Gly65=)
|
|
|
NM_001077365.2(POMT1):c.1974C>T (p.Val658=)
|
|
|
NM_001077365.2(POMT1):c.1975C>T (p.Leu659=)
|
|
|
NM_001077365.2(POMT1):c.1977del (p.Gln660fs)
|
|
|
NM_001077365.2(POMT1):c.1979A>G (p.Gln660Arg)
|
rs775109154
|
|
NM_001077365.2(POMT1):c.1983_1987del (p.His661fs)
|
|
|
NM_001077365.2(POMT1):c.1985T>A (p.Ile662Asn)
|
rs2131923569
|
|
NM_001077365.2(POMT1):c.2000G>A (p.Cys667Tyr)
|
rs1219770866
|
|
NM_001077365.2(POMT1):c.2002A>C (p.Arg668=)
|
rs985023011
|
|
NM_001077365.2(POMT1):c.2003+12_2003+13delinsAT
|
|
|
NM_001077365.2(POMT1):c.2003+14G>A
|
|
|
NM_001077365.2(POMT1):c.2003+17G>A
|
|
|
NM_001077365.2(POMT1):c.2003+18A>C
|
|
|
NM_001077365.2(POMT1):c.2003+18A>G
|
|
|
NM_001077365.2(POMT1):c.2003+20A>G
|
|
|
NM_001077365.2(POMT1):c.2003+8G>A
|
|
|
NM_001077365.2(POMT1):c.2004-10A>G
|
|
|
NM_001077365.2(POMT1):c.2004-13C>T
|
|
|
NM_001077365.2(POMT1):c.2004-16G>A
|
rs896269640
|
|
NM_001077365.2(POMT1):c.2004-18C>A
|
|
|
NM_001077365.2(POMT1):c.2004-18C>G
|
|
|
NM_001077365.2(POMT1):c.2004-20C>G
|
rs372767898
|
|
NM_001077365.2(POMT1):c.2004-4G>A
|
|
|
NM_001077365.2(POMT1):c.2004-5T>G
|
|
|
NM_001077365.2(POMT1):c.2004-8C>T
|
rs1950257826
|
|
NM_001077365.2(POMT1):c.2004-9C>T
|
rs886063538
|
|
NM_001077365.2(POMT1):c.2015A>G (p.Gln672Arg)
|
|
|
NM_001077365.2(POMT1):c.2016G>A (p.Gln672=)
|
rs779577551
|
|
NM_001077365.2(POMT1):c.2019G>A (p.Arg673=)
|
|
|
NM_001077365.2(POMT1):c.2022C>G (p.Ser674Arg)
|
|
|
NM_001077365.2(POMT1):c.2022C>T (p.Ser674=)
|
|
|
NM_001077365.2(POMT1):c.2028C>T (p.Phe676=)
|
|
|
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs)
|
rs1950265792
|
|
NM_001077365.2(POMT1):c.2044dup (p.Ala682fs)
|
rs587777817
|
|
NM_001077365.2(POMT1):c.2046C>G (p.Ala682=)
|
|
|
NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His)
|
rs113633543
|
|
NM_001077365.2(POMT1):c.2053T>A (p.Ser685Thr)
|
rs1588513928
|
|
NM_001077365.2(POMT1):c.205G>A (p.Gly69Ser)
|
rs1945776583
|
|
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln)
|
rs141895982
|
|
NM_001077365.2(POMT1):c.2068G>T (p.Val690Leu)
|
|
|
NM_001077365.2(POMT1):c.2070G>A (p.Val690=)
|
rs752855537
|
|
NM_001077365.2(POMT1):c.2082G>A (p.Leu694=)
|
|
|
NM_001077365.2(POMT1):c.2089C>T (p.Leu697Phe)
|
|
|
NM_001077365.2(POMT1):c.2090T>A (p.Leu697His)
|
rs753872714
|
|
NM_001077365.2(POMT1):c.2093C>T (p.Thr698Ile)
|
|
|
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)
|
rs138902646
|
|
NM_001077365.2(POMT1):c.2098G>T (p.Gly700Trp)
|
rs912556508
|
|
NM_001077365.2(POMT1):c.2101G>T (p.Asp701Tyr)
|
rs771877812
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.2103C>T (p.Asp701=)
|
|
|
NM_001077365.2(POMT1):c.2110C>T (p.Leu704Phe)
|
rs2131946967
|
|
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs)
|
rs587777819
|
|
NM_001077365.2(POMT1):c.2113_2119del (p.Ser705fs)
|
|
|
NM_001077365.2(POMT1):c.2115G>C (p.Ser705=)
|
|
|
NM_001077365.2(POMT1):c.2118A>T (p.Pro706=)
|
|
|
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro)
|
rs776988725
|
|
NM_001077365.2(POMT1):c.2127C>A (p.Leu709=)
|
rs2131947484
|
|
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His)
|
rs938573554
|
|
NM_001077365.2(POMT1):c.2140T>C (p.Trp714Arg)
|
|
|
NM_001077365.2(POMT1):c.2140del (p.Trp714fs)
|
|
|
NM_001077365.2(POMT1):c.2141G>A (p.Trp714Ter)
|
|
|
NM_001077365.2(POMT1):c.2142del (p.Arg713_Trp714insTer)
|
|
|
NM_001077365.2(POMT1):c.2144_2147dup (p.Asp716fs)
|
rs750453909
|
|
NM_001077365.2(POMT1):c.2145_2156del (p.Lys715_Asp719delinsAsn)
|
rs1564395473
|
|
NM_001077365.2(POMT1):c.2162T>G (p.Leu721Trp)
|
|
|
NM_001077365.2(POMT1):c.2178G>C (p.Ter726Tyr)
|
rs147143094
|
|
NM_001077365.2(POMT1):c.221C>A (p.Ala74Asp)
|
|
|
NM_001077365.2(POMT1):c.225G>A (p.Leu75=)
|
|
|
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg)
|
rs28941782
|
|
NM_001077365.2(POMT1):c.229+12C>G
|
|
|
NM_001077365.2(POMT1):c.229+12C>T
|
|
|
NM_001077365.2(POMT1):c.229+14G>A
|
rs1945785020
|
|
NM_001077365.2(POMT1):c.229+2T>C
|
rs1945782278
|
|
NM_001077365.2(POMT1):c.229+7G>T
|
|
|
NM_001077365.2(POMT1):c.229+8T>G
|
|
|
NM_001077365.2(POMT1):c.230-16T>A
|
|
|
NM_001077365.2(POMT1):c.230-17T>C
|
|
|
NM_001077365.2(POMT1):c.230-2A>G
|
|
|
NM_001077365.2(POMT1):c.230-9_230-8del
|
rs2131591743
|
|
NM_001077365.2(POMT1):c.23C>T (p.Pro8Leu)
|
|
|
NM_001077365.2(POMT1):c.240A>G (p.Gly80=)
|
|
|
NM_001077365.2(POMT1):c.245del (p.Phe82fs)
|
|
|
NM_001077365.2(POMT1):c.249T>C (p.Asp83=)
|
|
|
NM_001077365.2(POMT1):c.252C>G (p.Gly84=)
|
|
|
NM_001077365.2(POMT1):c.260dup (p.Leu87fs)
|
|
|
NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter)
|
rs1945827957
|
|
NM_001077365.2(POMT1):c.26T>C (p.Val9Ala)
|
rs1945225387
|
|
NM_001077365.2(POMT1):c.270_280delAATTGGAGCAG (p.Gly92fs)
|
rs1222795311
|
|
NM_001077365.2(POMT1):c.273T>C (p.Ile91=)
|
|
|
NM_001077365.2(POMT1):c.274G>A (p.Gly92Arg)
|
rs2131592403
|
|
NM_001077365.2(POMT1):c.280+12T>C
|
|
|
NM_001077365.2(POMT1):c.280+16C>A
|
|
|
NM_001077365.2(POMT1):c.280+16C>T
|
|
|
NM_001077365.2(POMT1):c.280+20T>C
|
|
|
NM_001077365.2(POMT1):c.280+7G>A
|
|
|
NM_001077365.2(POMT1):c.280+7_280+8del
|
rs561658895
|
|
NM_001077365.2(POMT1):c.281-16G>A
|
|
|
NM_001077365.2(POMT1):c.281-8T>C
|
|
|
NM_001077365.2(POMT1):c.283T>C (p.Tyr95His)
|
|
|
NM_001077365.2(POMT1):c.285C>T (p.Tyr95=)
|
rs1554772428
|
|
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
|
|
|
NM_001077365.2(POMT1):c.295G>A (p.Val99Met)
|
rs1449103987
|
|
NM_001077365.2(POMT1):c.314G>A (p.Arg105His)
|
rs1554772469
|
|
NM_001077365.2(POMT1):c.330C>T (p.Leu110=)
|
rs138064523
|
|
NM_001077365.2(POMT1):c.333G>A (p.Ala111=)
|
|
|
NM_001077365.2(POMT1):c.342G>T (p.Leu114Phe)
|
|
|
NM_001077365.2(POMT1):c.344C>T (p.Ser115Leu)
|
|
|
NM_001077365.2(POMT1):c.352A>G (p.Met118Val)
|
|
|
NM_001077365.2(POMT1):c.357C>T (p.Ala119=)
|
|
|
NM_001077365.2(POMT1):c.360C>T (p.Tyr120=)
|
rs2131606375
|
|
NM_001077365.2(POMT1):c.36G>T (p.Thr12=)
|
|
|
NM_001077365.2(POMT1):c.385del (p.Ser129fs)
|
|
|
NM_001077365.2(POMT1):c.389_407del (p.His130fs)
|
|
|
NM_001077365.2(POMT1):c.389del (p.His130fs)
|
|
|
NM_001077365.2(POMT1):c.412C>T (p.Leu138=)
|
|
|
NM_001077365.2(POMT1):c.418A>G (p.Met140Val)
|
rs2131607251
|
|
NM_001077365.2(POMT1):c.418_420del (p.Met140del)
|
rs587777820
|
|
NM_001077365.2(POMT1):c.423T>C (p.Leu141=)
|
|
|
NM_001077365.2(POMT1):c.427+12G>T
|
|
|
NM_001077365.2(POMT1):c.427+17T>G
|
|
|
NM_001077365.2(POMT1):c.427+1G>A
|
rs760071332
|
|
NM_001077365.2(POMT1):c.427+1_427+2insA
|
rs900762841
|
|
NM_001077365.2(POMT1):c.427+20C>G
|
|
|
NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)
|
|
|
NM_001077365.2(POMT1):c.428-11C>T
|
|
|
NM_001077365.2(POMT1):c.428-2A>G
|
rs1554773448
|
|
NM_001077365.2(POMT1):c.428-7G>A
|
|
|
NM_001077365.2(POMT1):c.428-7G>T
|
|
|
NM_001077365.2(POMT1):c.428-8T>C
|
|
|
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp)
|
rs397514501
|
|
NM_001077365.2(POMT1):c.432del (p.Asn144fs)
|
|
|
NM_001077365.2(POMT1):c.434C>T (p.Ala145Val)
|
|
|
NM_001077365.2(POMT1):c.435T>A (p.Ala145=)
|
|
|
NM_001077365.2(POMT1):c.439A>G (p.Ile147Val)
|
|
|
NM_001077365.2(POMT1):c.443C>A (p.Thr148Asn)
|
rs1564341846
|
|
NM_001077365.2(POMT1):c.459G>A (p.Met153Ile)
|
rs1184495903
|
|
NM_001077365.2(POMT1):c.463T>C (p.Leu155=)
|
|
|
NM_001077365.2(POMT1):c.466G>C (p.Glu156Gln)
|
|
|
NM_001077365.2(POMT1):c.485del (p.Phe162fs)
|
rs1250351189
|
|
NM_001077365.2(POMT1):c.498C>T (p.Ala166=)
|
|
|
NM_001077365.2(POMT1):c.499G>C (p.Val167Leu)
|
|
|
NM_001077365.2(POMT1):c.504G>A (p.Leu168=)
|
|
|
NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
|
|
|
NM_001077365.2(POMT1):c.514_518delinsTCCTAC (p.Lys172fs)
|
|
|
NM_001077365.2(POMT1):c.520T>A (p.Phe174Ile)
|
|
|
NM_001077365.2(POMT1):c.529C>T (p.Gln177Ter)
|
|
|
NM_001077365.2(POMT1):c.533A>G (p.Lys178Arg)
|
|
|
NM_001077365.2(POMT1):c.538A>C (p.Ser180Arg)
|
rs770239141
|
|
NM_001077365.2(POMT1):c.539+15G>A
|
|
|
NM_001077365.2(POMT1):c.539+20T>G
|
|
|
NM_001077365.2(POMT1):c.539+2T>C
|
|
|
NM_001077365.2(POMT1):c.539+9A>G
|
rs964407139
|
|
NM_001077365.2(POMT1):c.540-3C>T
|
|
|
NM_001077365.2(POMT1):c.540-4C>G
|
|
|
NM_001077365.2(POMT1):c.540-8T>C
|
|
|
NM_001077365.2(POMT1):c.545T>G (p.Phe182Cys)
|
rs1946684104
|
|
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter)
|
rs772370177
|
|
NM_001077365.2(POMT1):c.558G>T (p.Trp186Cys)
|
|
|
NM_001077365.2(POMT1):c.559del (p.Trp187fs)
|
|
|
NM_001077365.2(POMT1):c.570A>T (p.Leu190=)
|
|
|
NM_001077365.2(POMT1):c.583del (p.Val195fs)
|
|
|
NM_001077365.2(POMT1):c.587C>T (p.Ala196Val)
|
|
|
NM_001077365.2(POMT1):c.58dup (p.Val20fs)
|
rs2131554631
|
|
NM_001077365.2(POMT1):c.592T>A (p.Ser198Thr)
|
rs767056835
|
|
NM_001077365.2(POMT1):c.59T>C (p.Val20Ala)
|
|
|
NM_001077365.2(POMT1):c.600_601delinsGA (p.Val201Met)
|
rs2131641762
|
|
NM_001077365.2(POMT1):c.605+13dup
|
|
|
NM_001077365.2(POMT1):c.605+1G>C
|
rs766648827
|
|
NM_001077365.2(POMT1):c.605+4A>G
|
|
|
NM_001077365.2(POMT1):c.606-12A>G
|
rs1057523851
|
|
NM_001077365.2(POMT1):c.606-13C>T
|
|
|
NM_001077365.2(POMT1):c.606-14T>C
|
|
|
NM_001077365.2(POMT1):c.606del (p.Ile203fs)
|
rs1588375386
|
|
NM_001077365.2(POMT1):c.621T>C (p.Gly207=)
|
|
|
NM_001077365.2(POMT1):c.622G>T (p.Val208Leu)
|
|
|
NM_001077365.2(POMT1):c.62C>T (p.Ala21Val)
|
|
|
NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter)
|
rs747129906
|
|
NM_001077365.2(POMT1):c.633C>T (p.Tyr211=)
|
rs747129906
|
|
NM_001077365.2(POMT1):c.636G>T (p.Val212=)
|
|
|
NM_001077365.2(POMT1):c.63C>T (p.Ala21=)
|
|
|
NM_001077365.2(POMT1):c.640G>T (p.Val214Leu)
|
|
|
NM_001077365.2(POMT1):c.641T>C (p.Val214Ala)
|
rs919829316
|
|
NM_001077365.2(POMT1):c.669G>A (p.Trp223Ter)
|
|
|
NM_001077365.2(POMT1):c.673C>T (p.Leu225=)
|
|
|
NM_001077365.2(POMT1):c.675G>A (p.Leu225=)
|
|
|
NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro)
|
rs1554774207
|
|
NM_001077365.2(POMT1):c.687G>C (p.Gln229His)
|
rs1946741782
|
|
NM_001077365.2(POMT1):c.688A>T (p.Thr230Ser)
|
|
|
NM_001077365.2(POMT1):c.689C>G (p.Thr230Ser)
|
|
|
NM_001077365.2(POMT1):c.699+14T>G
|
rs370038491
|
|
NM_001077365.2(POMT1):c.699+14_699+17dup
|
|
|
NM_001077365.2(POMT1):c.699+18G>C
|
rs886063537
|
|
NM_001077365.2(POMT1):c.699+24C>A
|
|
|
NM_001077365.2(POMT1):c.699+26T>G
|
rs2131645042
|
|
NM_001077365.2(POMT1):c.699+39T>C
|
|
|
NM_001077365.2(POMT1):c.699+40A>G
|
|
|
NM_001077365.2(POMT1):c.699+45G>T
|
|
|
NM_001077365.2(POMT1):c.699+49A>T
|
|
|
NM_001077365.2(POMT1):c.699+5G>T
|
|
|
NM_001077365.2(POMT1):c.699+64G>C
|
rs746958804
|
|
NM_001077365.2(POMT1):c.699+66G>T
|
|
|
NM_001077365.2(POMT1):c.699+67G>T
|
rs776061161
|
|
NM_001077365.2(POMT1):c.699+67dup
|
|
|
NM_001077365.2(POMT1):c.699+6T>G
|
|
|
NM_001077365.2(POMT1):c.699+73G>C
|
|
|
NM_001077365.2(POMT1):c.699+74G>T
|
|
|
NM_001077365.2(POMT1):c.699+75T>C
|
|
|
NM_001077365.2(POMT1):c.699+76G>T
|
|
|
NM_001077365.2(POMT1):c.699+80del
|
|
|
NM_001077365.2(POMT1):c.699+81G>A
|
|
|
NM_001077365.2(POMT1):c.699+83_699+84insAT
|
|
|
NM_001077365.2(POMT1):c.699+85C>T
|
rs369000699
|
|
NM_001077365.2(POMT1):c.699T>C (p.Asn233=)
|
|
|
NM_001077365.2(POMT1):c.700-17C>T
|
rs1946817783
|
|
NM_001077365.2(POMT1):c.700-6T>C
|
|
|
NM_001077365.2(POMT1):c.700-7C>T
|
rs1588380391
|
|
NM_001077365.2(POMT1):c.708G>A (p.Val236=)
|
|
|
NM_001077365.2(POMT1):c.720del (p.Leu240fs)
|
|
|
NM_001077365.2(POMT1):c.724G>T (p.Ala242Ser)
|
rs779771679
|
|
NM_001077365.2(POMT1):c.725C>T (p.Ala242Val)
|
rs1554774466
|
|
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)
|
rs398124247
|
|
NM_001077365.2(POMT1):c.728G>C (p.Arg243Pro)
|
rs772980661
|
|
NM_001077365.2(POMT1):c.729A>G (p.Arg243=)
|
rs2131652629
|
|
NM_001077365.2(POMT1):c.72del (p.Met25fs)
|
rs2131554917
|
|
NM_001077365.2(POMT1):c.732A>C (p.Ala244=)
|
|
|
NM_001077365.2(POMT1):c.743T>G (p.Leu248Arg)
|
rs1946833127
|
|
NM_001077365.2(POMT1):c.744G>A (p.Leu248=)
|
|
|
NM_001077365.2(POMT1):c.748A>G (p.Ile250Val)
|
|
|
NM_001077365.2(POMT1):c.759C>G (p.Val253=)
|
|
|
NM_001077365.2(POMT1):c.75G>T (p.Met25Ile)
|
|
|
NM_001077365.2(POMT1):c.761T>G (p.Leu254Arg)
|
|
|
NM_001077365.2(POMT1):c.762G>A (p.Leu254=)
|
|
|
NM_001077365.2(POMT1):c.773TCT[1] (p.Phe259del)
|
|
|
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile)
|
rs759734493
|
|
NM_001077365.2(POMT1):c.789_790del (p.Leu263fs)
|
|
|
NM_001077365.2(POMT1):c.797_808del (p.Val266_Ser269del)
|
|
|
NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)
|
|
|
NM_001077365.2(POMT1):c.804C>T (p.Arg268=)
|
|
|
NM_001077365.2(POMT1):c.813C>T (p.Pro271=)
|
|
|
NM_001077365.2(POMT1):c.846C>T (p.Ala282=)
|
rs886043307
|
|
NM_001077365.2(POMT1):c.84G>C (p.Leu28=)
|
|
|
NM_001077365.2(POMT1):c.852A>T (p.Leu284Phe)
|
|
|
NM_001077365.2(POMT1):c.855+12G>A
|
|
|
NM_001077365.2(POMT1):c.855+17C>T
|
|
|
NM_001077365.2(POMT1):c.855+19del
|
|
|
NM_001077365.2(POMT1):c.855+20C>T
|
|
|
NM_001077365.2(POMT1):c.855+7A>G
|
|
|
NM_001077365.2(POMT1):c.856-15C>G
|
rs1947072981
|
|
NM_001077365.2(POMT1):c.856-16_856-14del
|
|
|
NM_001077365.2(POMT1):c.856-17T>G
|
|
|
NM_001077365.2(POMT1):c.856-18C>T
|
|
|
NM_001077365.2(POMT1):c.856-2A>G
|
|
|
NM_001077365.2(POMT1):c.856-5C>T
|
rs970574744
|
|
NM_001077365.2(POMT1):c.856-6T>C
|
|
|
NM_001077365.2(POMT1):c.859G>A (p.Gly287Arg)
|
|
|
NM_001077365.2(POMT1):c.859_871del (p.Gly287fs)
|
rs2131672013
|
|
NM_001077365.2(POMT1):c.860G>A (p.Gly287Glu)
|
rs1947076473
|
|
NM_001077365.2(POMT1):c.870G>A (p.Arg290=)
|
|
|
NM_001077365.2(POMT1):c.879G>T (p.Gln293His)
|
rs1947080431
|
|
NM_001077365.2(POMT1):c.880G>A (p.Gly294Ser)
|
rs145395372
|
|
NM_001077365.2(POMT1):c.881G>A (p.Gly294Asp)
|
rs1947081771
|
|
NM_001077365.2(POMT1):c.885G>A (p.Gln295=)
|
|
|
NM_001077365.2(POMT1):c.888A>G (p.Pro296=)
|
|
|
NM_001077365.2(POMT1):c.889C>T (p.Leu297=)
|
|
|
NM_001077365.2(POMT1):c.897G>A (p.Val299=)
|
|
|
NM_001077365.2(POMT1):c.8G>A (p.Gly3Glu)
|
|
|
NM_001077365.2(POMT1):c.900C>G (p.Ala300=)
|
|
|
NM_001077365.2(POMT1):c.91del (p.Leu31fs)
|
|
|
NM_001077365.2(POMT1):c.927C>T (p.Asn309=)
|
rs753694905
|
|
NM_001077365.2(POMT1):c.92T>A (p.Leu31Gln)
|
rs2131555430
|
|
NM_001077365.2(POMT1):c.936G>A (p.Gly312=)
|
|
|
NM_001077365.2(POMT1):c.93del (p.Trp32fs)
|
|
|
NM_001077365.2(POMT1):c.948C>T (p.Pro316=)
|
|
|
NM_001077365.2(POMT1):c.962_982del (p.Ser321_Met328delinsLeu)
|
rs2131673494
|
|
NM_001077365.2(POMT1):c.972_973insCT (p.Thr325fs)
|
|
|
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)
|
rs1588391612
|
|
NM_001077365.2(POMT1):c.982A>C (p.Met328Leu)
|
|
|
NM_001077365.2(POMT1):c.986+10T>C
|
|
|
NM_001077365.2(POMT1):c.986+11G>A
|
|
|
NM_001077365.2(POMT1):c.986+12dup
|
|
|
NM_001077365.2(POMT1):c.987-2A>C
|
rs1453773610
|
|
NM_001077365.2(POMT1):c.987-2A>G
|
|
|
NM_001077365.2(POMT1):c.987-4A>G
|
|
|
NM_001077365.2(POMT1):c.987-5C>T
|
|
|
NM_001077365.2(POMT1):c.988T>C (p.Tyr330His)
|
|
|
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)
|
rs765230689
|
|
NM_001077365.2(POMT1):c.990T>C (p.Tyr330=)
|
|
|
NM_001077365.2(POMT1):c.993G>A (p.Glu331=)
|
|
|
NM_001077365.2(POMT1):c.996C>T (p.Asn332=)
|
|
|
NM_001077365.2(POMT1):c.[2101dup];[512T>G]
|
|
|
NM_001079802.1(FKTN):c.657dup (p.Gln220Thrfs)
|
rs1554754678
|
|
NM_001079802.2(FKTN):c.*2516G>T
|
rs886063331
|
|
NM_001079802.2(FKTN):c.*2640G>C
|
rs556673268
|
|
NM_001079802.2(FKTN):c.*2674A>G
|
rs1834156242
|
|
NM_001079802.2(FKTN):c.*2902C>T
|
rs1834171760
|
|
NM_001079802.2(FKTN):c.*2904G>A
|
rs138806979
|
|
NM_001079802.2(FKTN):c.*3046T>C
|
rs886063333
|
|
NM_001079802.2(FKTN):c.*3156A>T
|
rs886063334
|
|
NM_001079802.2(FKTN):c.*3312T>G
|
rs1343215418
|
|
NM_001079802.2(FKTN):c.*3432dup
|
rs879020291
|
|
NM_001079802.2(FKTN):c.*3985C>T
|
rs1293866364
|
|
NM_001079802.2(FKTN):c.*4238del
|
rs776272545
|
|
NM_001079802.2(FKTN):c.*42del
|
rs749100291
|
|
NM_001079802.2(FKTN):c.*436C>T
|
rs886063322
|
|
NM_001079802.2(FKTN):c.*4388del
|
rs148253503
|
|
NM_001079802.2(FKTN):c.*4646A>G
|
rs1834308173
|
|
NM_001079802.2(FKTN):c.*4705G>A
|
rs1834312188
|
|
NM_001079802.2(FKTN):c.*4826A>G
|
rs1834318656
|
|
NM_001079802.2(FKTN):c.*4859A>G
|
rs1554768242
|
|
NM_001079802.2(FKTN):c.*4859A>T
|
rs1554768242
|
|
NM_001079802.2(FKTN):c.*5303dup
|
rs879263714
|
|
NM_001079802.2(FKTN):c.*5374_*5846del
|
|
|
NM_001079802.2(FKTN):c.*5817A>C
|
rs886063343
|
|
NM_001079802.2(FKTN):c.*806G>C
|
rs75971372
|
|
NM_001079802.2(FKTN):c.-181+1G>C
|
rs574535599
|
|
NM_001079802.2(FKTN):c.-181+1G>T
|
rs574535599
|
|
NM_001079802.2(FKTN):c.-1_2del (p.Met1del)
|
rs1180986256
|
|
NM_001079802.2(FKTN):c.-45G>T
|
rs77013649
|
|
NM_001079802.2(FKTN):c.-90del
|
rs727502845
|
|
NM_001079802.2(FKTN):c.1002A>G (p.Ala334=)
|
rs2133162787
|
|
NM_001079802.2(FKTN):c.1005T>C (p.Phe335=)
|
|
|
NM_001079802.2(FKTN):c.1011T>C (p.Asp337=)
|
|
|
NM_001079802.2(FKTN):c.1022del (p.Pro341fs)
|
rs2133163213
|
|
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=)
|
rs146967918
|
|
NM_001079802.2(FKTN):c.1023G>T (p.Pro341=)
|
rs146967918
|
|
NM_001079802.2(FKTN):c.1026C>T (p.Leu342=)
|
rs17309806
|
|
NM_001079802.2(FKTN):c.1033A>G (p.Lys345Glu)
|
rs2133163596
|
|
NM_001079802.2(FKTN):c.1044+15T>A
|
rs1475492936
|
|
NM_001079802.2(FKTN):c.1044+16C>T
|
rs1222775225
|
|
NM_001079802.2(FKTN):c.1044+17G>A
|
rs200801909
|
|
NM_001079802.2(FKTN):c.1044+17G>C
|
rs200801909
|
|
NM_001079802.2(FKTN):c.1044+19C>A
|
rs2133164189
|
|
NM_001079802.2(FKTN):c.1044+9C>T
|
rs2133163762
|
|
NM_001079802.2(FKTN):c.1045-13A>G
|
|
|
NM_001079802.2(FKTN):c.1045-20G>C
|
rs2133209107
|
|
NM_001079802.2(FKTN):c.1045-3dup
|
|
|
NM_001079802.2(FKTN):c.1045-5C>T
|
|
|
NM_001079802.2(FKTN):c.1045G>A (p.Val349Ile)
|
rs1831549660
|
|
NM_001079802.2(FKTN):c.1045G>C (p.Val349Leu)
|
rs1831549660
|
|
NM_001079802.2(FKTN):c.1048_1065del (p.Glu350_Leu355del)
|
rs2133209581
|
|
NM_001079802.2(FKTN):c.105+15T>C
|
|
|
NM_001079802.2(FKTN):c.105+17T>G
|
|
|
NM_001079802.2(FKTN):c.105+7T>A
|
|
|
NM_001079802.2(FKTN):c.105+9A>G
|
rs1332542267
|
|
NM_001079802.2(FKTN):c.105+9_105+10dup
|
rs759773682
|
|
NM_001079802.2(FKTN):c.1053C>T (p.Asp351=)
|
|
|
NM_001079802.2(FKTN):c.1055G>A (p.Ser352Asn)
|
|
|
NM_001079802.2(FKTN):c.105G>A (p.Lys35=)
|
rs751029878
|
|
NM_001079802.2(FKTN):c.106-10G>C
|
|
|
NM_001079802.2(FKTN):c.106-10G>T
|
rs148384394
|
|
NM_001079802.2(FKTN):c.106-12T>C
|
|
|
NM_001079802.2(FKTN):c.106-13G>A
|
|
|
NM_001079802.2(FKTN):c.106-14T>G
|
|
|
NM_001079802.2(FKTN):c.106-15T>G
|
|
|
NM_001079802.2(FKTN):c.106-17T>C
|
|
|
NM_001079802.2(FKTN):c.106-18C>A
|
|
|
NM_001079802.2(FKTN):c.106-18C>T
|
rs748663594
|
|
NM_001079802.2(FKTN):c.106-1G>C
|
rs2132594628
|
|
NM_001079802.2(FKTN):c.106-20T>C
|
|
|
NM_001079802.2(FKTN):c.106-20T>G
|
|
|
NM_001079802.2(FKTN):c.106-2A>C
|
|
|
NM_001079802.2(FKTN):c.106-2A>G
|
rs1554748292
|
|
NM_001079802.2(FKTN):c.106-5C>A
|
rs1338220455
|
|
NM_001079802.2(FKTN):c.106-5C>T
|
|
|
NM_001079802.2(FKTN):c.1065A>C (p.Leu355=)
|
rs751317602
|
|
NM_001079802.2(FKTN):c.1065A>G (p.Leu355=)
|
|
|
NM_001079802.2(FKTN):c.107dup (p.Asn36fs)
|
|
|
NM_001079802.2(FKTN):c.1080A>G (p.Lys360=)
|
rs2133210088
|
|
NM_001079802.2(FKTN):c.1082A>C (p.Asp361Ala)
|
|
|
NM_001079802.2(FKTN):c.1086T>A (p.Asp362Glu)
|
rs1588221689
|
|
NM_001079802.2(FKTN):c.1086T>C (p.Asp362=)
|
rs1588221689
|
|
NM_001079802.2(FKTN):c.1088T>G (p.Val363Gly)
|
rs1362238936
|
|
NM_001079802.2(FKTN):c.1098T>C (p.Asp366=)
|
|
|
NM_001079802.2(FKTN):c.1099del (p.Val367fs)
|
rs1554761310
|
|
NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter)
|
rs773884973
|
|
NM_001079802.2(FKTN):c.10A>C (p.Ile4Leu)
|
rs757900916
|
|
NM_001079802.2(FKTN):c.1101T>C (p.Val367=)
|
|
|
NM_001079802.2(FKTN):c.1101T>G (p.Val367=)
|
|
|
NM_001079802.2(FKTN):c.1104T>A (p.Phe368Leu)
|
rs1831558425
|
|
NM_001079802.2(FKTN):c.1106del (p.Phe369fs)
|
rs750176716
|
|
NM_001079802.2(FKTN):c.1110C>T (p.Phe370=)
|
|
|
NM_001079802.2(FKTN):c.1113T>C (p.Tyr371=)
|
rs2133210756
|
|
NM_001079802.2(FKTN):c.1116A>G (p.Glu372=)
|
rs2133210810
|
|
NM_001079802.2(FKTN):c.1117G>T (p.Glu373Ter)
|
|
|
NM_001079802.2(FKTN):c.1119A>C (p.Glu373Asp)
|
rs371776972
|
|
NM_001079802.2(FKTN):c.1119A>T (p.Glu373Asp)
|
rs371776972
|
|
NM_001079802.2(FKTN):c.1129A>G (p.Met377Val)
|
rs1200757732
|
|
NM_001079802.2(FKTN):c.1143C>A (p.Gly381=)
|
|
|
NM_001079802.2(FKTN):c.1146T>C (p.Thr382=)
|
rs2133211422
|
|
NM_001079802.2(FKTN):c.1149G>A (p.Gln383=)
|
rs1831565349
|
|
NM_001079802.2(FKTN):c.1149G>C (p.Gln383His)
|
|
|
NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser)
|
rs1343750016
|
|
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)
|
rs1588222602
|
|
NM_001079802.2(FKTN):c.1157C>T (p.Thr386Ile)
|
rs1831566546
|
|
NM_001079802.2(FKTN):c.1158A>G (p.Thr386=)
|
rs886044528
|
|
NM_001079802.2(FKTN):c.1162A>C (p.Lys388Gln)
|
rs1831568665
|
|
NM_001079802.2(FKTN):c.1167A>G (p.Lys389=)
|
|
|
NM_001079802.2(FKTN):c.1167_1168dup (p.Phe390fs)
|
rs1588222870
|
|
NM_001079802.2(FKTN):c.1167del (p.Lys389fs)
|
rs398123555
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
NM_001079802.2(FKTN):c.1172+13dup
|
|
|
NM_001079802.2(FKTN):c.1172+15A>G
|
|
|
NM_001079802.2(FKTN):c.1172+19C>T
|
|
|
NM_001079802.2(FKTN):c.1172+1G>A
|
rs1554761462
|
|
NM_001079802.2(FKTN):c.1172+4T>C
|
rs2133212082
|
|
NM_001079802.2(FKTN):c.1173-14_1173-13del
|
rs2133450190
|
|
NM_001079802.2(FKTN):c.1173-16C>G
|
|
|
NM_001079802.2(FKTN):c.1173-18C>T
|
|
|
NM_001079802.2(FKTN):c.1173-19T>C
|
|
|
NM_001079802.2(FKTN):c.1173-1G>A
|
rs557699482
|
|
NM_001079802.2(FKTN):c.1173-1G>C
|
rs557699482
|
|
NM_001079802.2(FKTN):c.1173-2A>G
|
rs1554766808
|
|
NM_001079802.2(FKTN):c.1173-4G>A
|
|
|
NM_001079802.2(FKTN):c.1173-9T>A
|
rs2133450310
|
|
NM_001079802.2(FKTN):c.1173A>G (p.Lys391=)
|
rs2133450404
|
|
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter)
|
rs1203741361
|
|
NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter)
|
rs1203741361
|
|
NM_001079802.2(FKTN):c.1176C>T (p.Tyr392=)
|
|
|
NM_001079802.2(FKTN):c.1177C>A (p.Leu393Met)
|
rs1249398294
|
|
NM_001079802.2(FKTN):c.1179G>A (p.Leu393=)
|
|
|
NM_001079802.2(FKTN):c.1179G>C (p.Leu393=)
|
rs369117043
|
|
NM_001079802.2(FKTN):c.1179G>T (p.Leu393=)
|
|
|
NM_001079802.2(FKTN):c.1182T>G (p.Phe394Leu)
|
|
|
NM_001079802.2(FKTN):c.1185G>A (p.Pro395=)
|
rs141886790
|
|
NM_001079802.2(FKTN):c.1185G>T (p.Pro395=)
|
rs141886790
|
|
NM_001079802.2(FKTN):c.1191T>C (p.Phe397=)
|
rs2133450806
|
|
NM_001079802.2(FKTN):c.1196T>C (p.Leu399Pro)
|
rs1833923288
|
|
NM_001079802.2(FKTN):c.1198_1207del (p.Cys400fs)
|
rs2133450854
|
|
NM_001079802.2(FKTN):c.11T>C (p.Ile4Thr)
|
|
|
NM_001079802.2(FKTN):c.1200C>G (p.Cys400Trp)
|
rs2133450925
|
|
NM_001079802.2(FKTN):c.1201T>C (p.Trp401Arg)
|
|
|
NM_001079802.2(FKTN):c.1201del (p.Trp401fs)
|
rs1554766841
|
|
NM_001079802.2(FKTN):c.1205C>T (p.Thr402Ile)
|
rs371464705
|
|
NM_001079802.2(FKTN):c.1209G>A (p.Glu403=)
|
rs2133451076
|
|
NM_001079802.2(FKTN):c.120G>A (p.Leu40=)
|
|
|
NM_001079802.2(FKTN):c.1210T>G (p.Phe404Val)
|
rs1833925629
|
|
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del)
|
rs1554766855
|
|
NM_001079802.2(FKTN):c.1224G>C (p.Lys408Asn)
|
rs200091271
|
|
NM_001079802.2(FKTN):c.1225_1236delinsTT (p.Val409fs)
|
rs1833929015
|
|
NM_001079802.2(FKTN):c.1226T>C (p.Val409Ala)
|
|
|
NM_001079802.2(FKTN):c.1236C>A (p.Pro412=)
|
rs1554766880
|
|
NM_001079802.2(FKTN):c.1237T>C (p.Cys413Arg)
|
rs138836248
|
|
NM_001079802.2(FKTN):c.1248C>G (p.Leu416=)
|
rs774804160
|
|
NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter)
|
rs765934383
|
|
NM_001079802.2(FKTN):c.1250A>T (p.Glu417Val)
|
rs543684877
|
|
NM_001079802.2(FKTN):c.1255A>G (p.Ile419Val)
|
rs2133451721
|
|
NM_001079802.2(FKTN):c.1256T>A (p.Ile419Asn)
|
|
|
NM_001079802.2(FKTN):c.1256T>C (p.Ile419Thr)
|
|
|
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)
|
rs1588315166
|
|
NM_001079802.2(FKTN):c.1263C>T (p.Ala421=)
|
|
|
NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs)
|
rs1554766898
|
|
NM_001079802.2(FKTN):c.1265A>G (p.Asn422Ser)
|
rs1833935107
|
|
NM_001079802.2(FKTN):c.1266C>T (p.Asn422=)
|
|
|
NM_001079802.2(FKTN):c.1267_1270dup (p.Gly424fs)
|
|
|
NM_001079802.2(FKTN):c.1269T>C (p.Tyr423=)
|
rs1554766906
|
|
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser)
|
rs752358445
|
|
NM_001079802.2(FKTN):c.1272dup (p.Lys425Ter)
|
|
|
NM_001079802.2(FKTN):c.1278C>T (p.Thr426=)
|
rs2133452125
|
|
NM_001079802.2(FKTN):c.1284G>T (p.Lys428Asn)
|
rs938548521
|
|
NM_001079802.2(FKTN):c.1287T>A (p.Ile429=)
|
rs2133452264
|
|
NM_001079802.2(FKTN):c.1287del (p.Pro430fs)
|
rs2133452242
|
|
NM_001079802.2(FKTN):c.1290T>G (p.Pro430=)
|
rs2133452334
|
|
NM_001079802.2(FKTN):c.12C>T (p.Ile4=)
|
rs1389073650
|
|
NM_001079802.2(FKTN):c.1305C>G (p.Asp435Glu)
|
rs1043227892
|
|
NM_001079802.2(FKTN):c.1313G>A (p.Arg438His)
|
|
|
NM_001079802.2(FKTN):c.1315T>C (p.Ser439Pro)
|
rs758196050
|
|
NM_001079802.2(FKTN):c.1317_1318dup (p.Pro440fs)
|
rs886042778
|
|
NM_001079802.2(FKTN):c.1319C>T (p.Pro440Leu)
|
rs1564357396
|
|
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile)
|
rs374912618
|
|
NM_001079802.2(FKTN):c.1338T>C (p.Asn446=)
|
rs2133452991
|
|
NM_001079802.2(FKTN):c.1349C>T (p.Pro450Leu)
|
|
|
NM_001079802.2(FKTN):c.1350T>C (p.Pro450=)
|
rs2133453085
|
|
NM_001079802.2(FKTN):c.1359G>A (p.Glu453=)
|
rs2133453218
|
|
NM_001079802.2(FKTN):c.1363del (p.Asp455fs)
|
rs587777814
|
|
NM_001079802.2(FKTN):c.1368G>A (p.Glu456=)
|
|
|
NM_001079802.2(FKTN):c.1369G>A (p.Val457Ile)
|
rs775183646
|
|
NM_001079802.2(FKTN):c.1371_1381dup (p.Tyr461fs)
|
rs727502847
|
|
NM_001079802.2(FKTN):c.1372_1373dup (p.Gln459fs)
|
|
|
NM_001079802.2(FKTN):c.1379T>C (p.Leu460Ser)
|
rs1833947279
|
|
NM_001079802.2(FKTN):c.1381T>A (p.Tyr461Asn)
|
rs760285197
|
|
NM_001079802.2(FKTN):c.13A>C (p.Asn5His)
|
rs765929865
|
|
NM_001079802.2(FKTN):c.142A>G (p.Ile48Val)
|
|
|
NM_001079802.2(FKTN):c.145G>A (p.Gly49Arg)
|
rs2132595541
|
|
NM_001079802.2(FKTN):c.153T>C (p.Asp51=)
|
|
|
NM_001079802.2(FKTN):c.159A>G (p.Thr53=)
|
|
|
NM_001079802.2(FKTN):c.15T>C (p.Asn5=)
|
rs1841416731
|
|
NM_001079802.2(FKTN):c.162G>A (p.Gln54=)
|
|
|
NM_001079802.2(FKTN):c.164G>A (p.Trp55Ter)
|
|
|
NM_001079802.2(FKTN):c.164G>T (p.Trp55Leu)
|
rs1826858068
|
|
NM_001079802.2(FKTN):c.165+10A>G
|
rs2132596452
|
|
NM_001079802.2(FKTN):c.165+13A>G
|
|
|
NM_001079802.2(FKTN):c.165+15C>A
|
|
|
NM_001079802.2(FKTN):c.165+18G>T
|
|
|
NM_001079802.2(FKTN):c.165+1G>T
|
|
|
NM_001079802.2(FKTN):c.165+3A>G
|
|
|
NM_001079802.2(FKTN):c.165+5G>A
|
rs2132596368
|
|
NM_001079802.2(FKTN):c.165G>A (p.Trp55Ter)
|
|
|
NM_001079802.2(FKTN):c.166-11C>A
|
|
|
NM_001079802.2(FKTN):c.166-16T>C
|
|
|
NM_001079802.2(FKTN):c.166-16T>G
|
|
|
NM_001079802.2(FKTN):c.166-17C>T
|
|
|
NM_001079802.2(FKTN):c.166-1G>A
|
|
|
NM_001079802.2(FKTN):c.166-3C>A
|
|
|
NM_001079802.2(FKTN):c.166-7_166-6inv
|
|
|
NM_001079802.2(FKTN):c.166-9C>T
|
rs1361772036
|
|
NM_001079802.2(FKTN):c.169G>T (p.Ala57Ser)
|
|
|
NM_001079802.2(FKTN):c.170C>G (p.Ala57Gly)
|
|
|
NM_001079802.2(FKTN):c.170C>T (p.Ala57Val)
|
rs1554751104
|
|
NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del)
|
rs1554751112
|
|
NM_001079802.2(FKTN):c.180dup (p.Phe61fs)
|
rs2132704748
|
|
NM_001079802.2(FKTN):c.183T>C (p.Phe61=)
|
|
|
NM_001079802.2(FKTN):c.187_188del (p.Met63fs)
|
rs587777813
|
|
NM_001079802.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle)
|
rs1554751136
|
|
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)
|
rs2132016533
|
|
NM_001079802.2(FKTN):c.193A>G (p.Thr65Ala)
|
rs762827229
|
|
NM_001079802.2(FKTN):c.194C>A (p.Thr65Lys)
|
rs1238441242
|
|
NM_001079802.2(FKTN):c.194C>T (p.Thr65Ile)
|
|
|
NM_001079802.2(FKTN):c.196T>C (p.Ser66Pro)
|
rs1827810710
|
|
NM_001079802.2(FKTN):c.208G>A (p.Val70Ile)
|
rs1827814378
|
|
NM_001079802.2(FKTN):c.210A>T (p.Val70=)
|
|
|
NM_001079802.2(FKTN):c.215T>A (p.Val72Glu)
|
rs1827815560
|
|
NM_001079802.2(FKTN):c.21C>G (p.Asn7Lys)
|
rs564632018
|
|
NM_001079802.2(FKTN):c.220C>A (p.Leu74Ile)
|
rs1060501407
|
|
NM_001079802.2(FKTN):c.222T>G (p.Leu74=)
|
|
|
NM_001079802.2(FKTN):c.223A>G (p.Ile75Val)
|
rs1827816995
|
|
NM_001079802.2(FKTN):c.224T>C (p.Ile75Thr)
|
rs756178260
|
|
NM_001079802.2(FKTN):c.22G>A (p.Val8Met)
|
rs368981218
|
|
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu)
|
rs368981218
|
|
NM_001079802.2(FKTN):c.231T>G (p.Pro77=)
|
rs2132706103
|
|
NM_001079802.2(FKTN):c.238C>T (p.Leu80=)
|
rs1404872177
|
|
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro)
|
rs371697266
|
|
NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)
|
|
|
NM_001079802.2(FKTN):c.251A>G (p.Asn84Ser)
|
|
|
NM_001079802.2(FKTN):c.252T>C (p.Asn84=)
|
|
|
NM_001079802.2(FKTN):c.256_257del (p.Asn86fs)
|
|
|
NM_001079802.2(FKTN):c.257A>T (p.Asn86Ile)
|
rs1295912375
|
|
NM_001079802.2(FKTN):c.258C>T (p.Asn86=)
|
rs1554751233
|
|
NM_001079802.2(FKTN):c.25G>C (p.Val9Leu)
|
rs145387221
|
|
NM_001079802.2(FKTN):c.262G>C (p.Glu88Gln)
|
|
|
NM_001079802.2(FKTN):c.264A>G (p.Glu88=)
|
rs2132706649
|
|
NM_001079802.2(FKTN):c.273A>G (p.Lys91=)
|
|
|
NM_001079802.2(FKTN):c.276T>C (p.Asn92=)
|
|
|
NM_001079802.2(FKTN):c.278C>T (p.Thr93Ile)
|
|
|
NM_001079802.2(FKTN):c.27T>G (p.Val9=)
|
|
|
NM_001079802.2(FKTN):c.281C>T (p.Ser94Phe)
|
|
|
NM_001079802.2(FKTN):c.283C>T (p.His95Tyr)
|
|
|
NM_001079802.2(FKTN):c.291T>C (p.Ser97=)
|
rs2132707147
|
|
NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser)
|
rs376452959
|
|
NM_001079802.2(FKTN):c.293C>T (p.Thr98Ile)
|
rs376452959
|
|
NM_001079802.2(FKTN):c.294T>A (p.Thr98=)
|
rs2132707341
|
|
NM_001079802.2(FKTN):c.299A>C (p.Gln100Pro)
|
rs1827828109
|
|
NM_001079802.2(FKTN):c.29T>C (p.Leu10Ser)
|
rs1587865923
|
|
NM_001079802.2(FKTN):c.300A>G (p.Gln100=)
|
rs1588088054
|
|
NM_001079802.2(FKTN):c.301T>C (p.Cys101Arg)
|
rs886044095
|
|
NM_001079802.2(FKTN):c.306G>A (p.Lys102=)
|
|
|
NM_001079802.2(FKTN):c.312C>A (p.Phe104Leu)
|
rs2132707762
|
|
NM_001079802.2(FKTN):c.312C>T (p.Phe104=)
|
|
|
NM_001079802.2(FKTN):c.316G>T (p.Val106Phe)
|
|
|
NM_001079802.2(FKTN):c.319C>G (p.Pro107Ala)
|
rs2132707901
|
|
NM_001079802.2(FKTN):c.321A>G (p.Pro107=)
|
rs1488726924
|
|
NM_001079802.2(FKTN):c.322A>G (p.Arg108Gly)
|
rs2132707988
|
|
NM_001079802.2(FKTN):c.328T>C (p.Phe110Leu)
|
rs2132708103
|
|
NM_001079802.2(FKTN):c.329_330del (p.Phe110fs)
|
rs767865405
|
|
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)
|
rs767865405
|
|
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)
|
rs119463995
|
|
NM_001079802.2(FKTN):c.343C>T (p.Leu115=)
|
|
|
NM_001079802.2(FKTN):c.345G>A (p.Leu115=)
|
|
|
NM_001079802.2(FKTN):c.348G>A (p.Gln116=)
|
rs1361635341
|
|
NM_001079802.2(FKTN):c.350A>G (p.Tyr117Cys)
|
|
|
NM_001079802.2(FKTN):c.354C>T (p.His118=)
|
|
|
NM_001079802.2(FKTN):c.355C>T (p.Leu119=)
|
rs1554751390
|
|
NM_001079802.2(FKTN):c.360G>A (p.Trp120Ter)
|
rs1564284467
|
|
NM_001079802.2(FKTN):c.367G>T (p.Glu123Ter)
|
rs1376019203
|
|
NM_001079802.2(FKTN):c.369+10T>C
|
rs2132709628
|
|
NM_001079802.2(FKTN):c.369+12G>A
|
|
|
NM_001079802.2(FKTN):c.369+1G>A
|
rs764125009
|
|
NM_001079802.2(FKTN):c.369+20A>G
|
rs1354235244
|
|
NM_001079802.2(FKTN):c.369+20A>T
|
|
|
NM_001079802.2(FKTN):c.369+2T>G
|
|
|
NM_001079802.2(FKTN):c.369+4A>G
|
rs1588088864
|
|
NM_001079802.2(FKTN):c.369+5G>C
|
rs2132709437
|
|
NM_001079802.2(FKTN):c.369+6T>G
|
rs1554751423
|
|
NM_001079802.2(FKTN):c.369+7G>A
|
rs2132709548
|
|
NM_001079802.2(FKTN):c.370-10T>C
|
|
|
NM_001079802.2(FKTN):c.370-18A>T
|
|
|
NM_001079802.2(FKTN):c.370-2A>G
|
rs1554752805
|
|
NM_001079802.2(FKTN):c.370-2A>T
|
rs1554752805
|
|
NM_001079802.2(FKTN):c.370-7G>A
|
rs797045577
|
|
NM_001079802.2(FKTN):c.370-7G>T
|
rs797045577
|
|
NM_001079802.2(FKTN):c.370-8G>T
|
|
|
NM_001079802.2(FKTN):c.374G>A (p.Gly125Asp)
|
rs142783718
|
|
NM_001079802.2(FKTN):c.374G>C (p.Gly125Ala)
|
rs142783718
|
|
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val)
|
rs142783718
|
|
NM_001079802.2(FKTN):c.375C>T (p.Gly125=)
|
|
|
NM_001079802.2(FKTN):c.378del (p.Trp126fs)
|
|
|
NM_001079802.2(FKTN):c.37T>C (p.Leu13=)
|
rs2132017021
|
|
NM_001079802.2(FKTN):c.384G>T (p.Arg128=)
|
|
|
NM_001079802.2(FKTN):c.388G>A (p.Ala130Thr)
|
|
|
NM_001079802.2(FKTN):c.394A>G (p.Asn132Asp)
|
rs2132791236
|
|
NM_001079802.2(FKTN):c.395del (p.Asn132fs)
|
rs2132791309
|
|
NM_001079802.2(FKTN):c.400G>A (p.Gly134Arg)
|
rs1554752862
|
|
NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)
|
|
|
NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del)
|
rs1176794033
|
|
NM_001079802.2(FKTN):c.401G>T (p.Gly134Val)
|
rs2132791726
|
|
NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs)
|
rs1564290459
|
|
NM_001079802.2(FKTN):c.406C>T (p.Gln136Ter)
|
rs2132792099
|
|
NM_001079802.2(FKTN):c.408G>C (p.Gln136His)
|
|
|
NM_001079802.2(FKTN):c.409T>A (p.Cys137Ser)
|
|
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001079802.2(FKTN):c.411C>T (p.Cys137=)
|
rs537001725
|
|
NM_001079802.2(FKTN):c.412C>T (p.Leu138=)
|
|
|
NM_001079802.2(FKTN):c.41C>G (p.Thr14Arg)
|
rs149033995
|
|
NM_001079802.2(FKTN):c.420_432dup (p.Pro145Ter)
|
rs2132792659
|
|
NM_001079802.2(FKTN):c.425G>A (p.Ser142Asn)
|
rs745597550
|
|
NM_001079802.2(FKTN):c.426T>G (p.Ser142Arg)
|
|
|
NM_001079802.2(FKTN):c.428_429delinsT (p.Lys143fs)
|
|
|
NM_001079802.2(FKTN):c.429del (p.Asp144fs)
|
rs1057516258
|
|
NM_001079802.2(FKTN):c.42G>C (p.Thr14=)
|
rs78794935
|
|
NM_001079802.2(FKTN):c.42G>T (p.Thr14=)
|
rs78794935
|
|
NM_001079802.2(FKTN):c.432del (p.Arg146fs)
|
rs1588110929
|
|
NM_001079802.2(FKTN):c.435C>G (p.Pro145=)
|
rs1356233558
|
|
NM_001079802.2(FKTN):c.436dup (p.Arg146fs)
|
|
|
NM_001079802.2(FKTN):c.438G>T (p.Arg146=)
|
rs769735457
|
|
NM_001079802.2(FKTN):c.439C>T (p.Leu147=)
|
|
|
NM_001079802.2(FKTN):c.43C>T (p.Leu15=)
|
|
|
NM_001079802.2(FKTN):c.441A>G (p.Leu147=)
|
rs2132793754
|
|
NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)
|
|
|
NM_001079802.2(FKTN):c.447G>T (p.Gly149=)
|
|
|
NM_001079802.2(FKTN):c.448A>G (p.Ile150Val)
|
rs886044482
|
|
NM_001079802.2(FKTN):c.454dup (p.Ser152fs)
|
rs587777748
|
|
NM_001079802.2(FKTN):c.456A>G (p.Ser152=)
|
|
|
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)
|
rs760731888
|
|
NM_001079802.2(FKTN):c.457C>G (p.Leu153Val)
|
rs977350409
|
|
NM_001079802.2(FKTN):c.45G>T (p.Leu15=)
|
rs2132017290
|
|
NM_001079802.2(FKTN):c.462T>A (p.Ser154=)
|
|
|
NM_001079802.2(FKTN):c.467C>A (p.Thr156Asn)
|
rs1828456809
|
|
NM_001079802.2(FKTN):c.468T>G (p.Thr156=)
|
rs752268829
|
|
NM_001079802.2(FKTN):c.473dup (p.Leu160fs)
|
|
|
NM_001079802.2(FKTN):c.475C>G (p.Pro159Ala)
|
rs755830677
|
|
NM_001079802.2(FKTN):c.479T>C (p.Leu160Pro)
|
|
|
NM_001079802.2(FKTN):c.479del (p.Leu160fs)
|
|
|
NM_001079802.2(FKTN):c.481C>A (p.His161Asn)
|
rs753338116
|
|
NM_001079802.2(FKTN):c.482A>G (p.His161Arg)
|
rs727502848
|
|
NM_001079802.2(FKTN):c.483C>T (p.His161=)
|
rs1319173869
|
|
NM_001079802.2(FKTN):c.488T>A (p.Ile163Asn)
|
rs1828461999
|
|
NM_001079802.2(FKTN):c.489C>G (p.Ile163Met)
|
rs980208971
|
|
NM_001079802.2(FKTN):c.48A>G (p.Thr16=)
|
rs2132017319
|
|
NM_001079802.2(FKTN):c.499G>A (p.Ala167Thr)
|
rs2132796265
|
|
NM_001079802.2(FKTN):c.49A>G (p.Ser17Gly)
|
|
|
NM_001079802.2(FKTN):c.501C>T (p.Ala167=)
|
|
|
NM_001079802.2(FKTN):c.505C>G (p.His169Asp)
|
rs1243169303
|
|
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
|
|
|
NM_001079802.2(FKTN):c.507T>C (p.His169=)
|
rs756766493
|
|
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu)
|
rs119464997
|
|
NM_001079802.2(FKTN):c.509C>T (p.Ala170Val)
|
|
|
NM_001079802.2(FKTN):c.511A>T (p.Ile171Phe)
|
rs1432918466
|
|
NM_001079802.2(FKTN):c.513C>A (p.Ile171=)
|
|
|
NM_001079802.2(FKTN):c.515A>T (p.His172Leu)
|
rs758166890
|
|
NM_001079802.2(FKTN):c.51T>C (p.Ser17=)
|
|
|
NM_001079802.2(FKTN):c.520G>A (p.Val174Ile)
|
rs749663903
|
|
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)
|
rs119463996
|
|
NM_001079802.2(FKTN):c.528dup (p.His177fs)
|
rs1588112379
|
|
NM_001079802.2(FKTN):c.530A>G (p.His177Arg)
|
rs773322779
|
|
NM_001079802.2(FKTN):c.530A>T (p.His177Leu)
|
|
|
NM_001079802.2(FKTN):c.531T>A (p.His177Gln)
|
rs534638144
|
|
NM_001079802.2(FKTN):c.531T>C (p.His177=)
|
rs534638144
|
|
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr)
|
rs119463994
|
|
NM_001079802.2(FKTN):c.537G>A (p.Arg179=)
|
|
|
NM_001079802.2(FKTN):c.538A>T (p.Ser180Cys)
|
rs2132798439
|
|
NM_001079802.2(FKTN):c.539G>T (p.Ser180Ile)
|
|
|
NM_001079802.2(FKTN):c.540T>C (p.Ser180=)
|
|
|
NM_001079802.2(FKTN):c.543C>G (p.Gly181=)
|
|
|
NM_001079802.2(FKTN):c.545A>C (p.Asn182Thr)
|
rs760170065
|
|
NM_001079802.2(FKTN):c.546C>T (p.Asn182=)
|
|
|
NM_001079802.2(FKTN):c.547T>A (p.Tyr183Asn)
|
rs1163774436
|
|
NM_001079802.2(FKTN):c.549C>T (p.Tyr183=)
|
|
|
NM_001079802.2(FKTN):c.552C>T (p.Leu184=)
|
rs2132798933
|
|
NM_001079802.2(FKTN):c.557A>G (p.His186Arg)
|
rs1448279636
|
|
NM_001079802.2(FKTN):c.563A>G (p.His188Arg)
|
rs1828484638
|
|
NM_001079802.2(FKTN):c.564C>G (p.His188Gln)
|
rs1828485095
|
|
NM_001079802.2(FKTN):c.565T>C (p.Leu189=)
|
|
|
NM_001079802.2(FKTN):c.567G>C (p.Leu189Phe)
|
rs988842962
|
|
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer)
|
rs2132800044
|
|
NM_001079802.2(FKTN):c.569G>A (p.Arg190Lys)
|
rs760967116
|
|
NM_001079802.2(FKTN):c.569_570del (p.Arg190fs)
|
|
|
NM_001079802.2(FKTN):c.57A>G (p.Ala19=)
|
rs2132017433
|
|
NM_001079802.2(FKTN):c.585dup (p.Asp196Ter)
|
rs2132800552
|
|
NM_001079802.2(FKTN):c.586G>T (p.Asp196Tyr)
|
rs756748012
|
|
NM_001079802.2(FKTN):c.587_590del (p.Asp196fs)
|
|
|
NM_001079802.2(FKTN):c.58T>G (p.Phe20Val)
|
rs1554731003
|
|
NM_001079802.2(FKTN):c.615A>G (p.Leu205=)
|
|
|
NM_001079802.2(FKTN):c.617A>C (p.Gln206Pro)
|
|
|
NM_001079802.2(FKTN):c.619T>G (p.Phe207Val)
|
rs1461669175
|
|
NM_001079802.2(FKTN):c.61C>T (p.Leu21=)
|
rs2132017500
|
|
NM_001079802.2(FKTN):c.623G>A (p.Gly208Asp)
|
rs778048703
|
|
NM_001079802.2(FKTN):c.623G>T (p.Gly208Val)
|
|
|
NM_001079802.2(FKTN):c.625C>T (p.Arg209Cys)
|
rs749576551
|
|
NM_001079802.2(FKTN):c.626G>A (p.Arg209His)
|
rs771109111
|
|
NM_001079802.2(FKTN):c.626_627dup (p.Tyr210fs)
|
|
|
NM_001079802.2(FKTN):c.630T>A (p.Tyr210Ter)
|
|
|
NM_001079802.2(FKTN):c.638C>T (p.Ala213Val)
|
rs774612427
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
NM_001079802.2(FKTN):c.645C>T (p.Asp215=)
|
rs1464758743
|
|
NM_001079802.2(FKTN):c.647+12G>T
|
|
|
NM_001079802.2(FKTN):c.647+1G>A
|
rs2132802825
|
|
NM_001079802.2(FKTN):c.647+20G>A
|
|
|
NM_001079802.2(FKTN):c.647+3A>G
|
rs1828504981
|
|
NM_001079802.2(FKTN):c.647+5_647+7dup
|
|
|
NM_001079802.2(FKTN):c.647+8C>T
|
|
|
NM_001079802.2(FKTN):c.647+8_647+9del
|
rs2132803231
|
|
NM_001079802.2(FKTN):c.647+9A>C
|
rs1588113617
|
|
NM_001079802.2(FKTN):c.647+9A>G
|
|
|
NM_001079802.2(FKTN):c.647G>A (p.Arg216Lys)
|
rs1828504500
|
|
NM_001079802.2(FKTN):c.647G>T (p.Arg216Met)
|
|
|
NM_001079802.2(FKTN):c.648-10T>C
|
rs887162237
|
|
NM_001079802.2(FKTN):c.648-10_648-9del
|
|
|
NM_001079802.2(FKTN):c.648-1243G>A
|
rs1554754182
|
|
NM_001079802.2(FKTN):c.648-1243G>T
|
rs1554754182
|
|
NM_001079802.2(FKTN):c.648-15A>T
|
|
|
NM_001079802.2(FKTN):c.648-17T>A
|
|
|
NM_001079802.2(FKTN):c.648-18C>A
|
|
|
NM_001079802.2(FKTN):c.648-25_648-5del
|
|
|
NM_001079802.2(FKTN):c.648-2A>G
|
|
|
NM_001079802.2(FKTN):c.648-3C>T
|
rs1430063746
|
|
NM_001079802.2(FKTN):c.648-4T>C
|
rs1829177357
|
|
NM_001079802.2(FKTN):c.648-7T>C
|
|
|
NM_001079802.2(FKTN):c.64C>T (p.Leu22=)
|
|
|
NM_001079802.2(FKTN):c.653A>T (p.Glu218Val)
|
rs978338266
|
|
NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter)
|
rs754081311
|
|
NM_001079802.2(FKTN):c.658_661del (p.Gln220fs)
|
rs1057517160
|
|
NM_001079802.2(FKTN):c.659A>G (p.Gln220Arg)
|
|
|
NM_001079802.2(FKTN):c.660G>A (p.Gln220=)
|
|
|
NM_001079802.2(FKTN):c.663A>G (p.Gln221=)
|
|
|
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)
|
rs1293245717
|
|
NM_001079802.2(FKTN):c.666T>C (p.Val222=)
|
|
|
NM_001079802.2(FKTN):c.667A>G (p.Thr223Ala)
|
|
|
NM_001079802.2(FKTN):c.66G>C (p.Leu22=)
|
|
|
NM_001079802.2(FKTN):c.672T>C (p.Val224=)
|
rs2132898704
|
|
NM_001079802.2(FKTN):c.675T>A (p.Asp225Glu)
|
|
|
NM_001079802.2(FKTN):c.675T>C (p.Asp225=)
|
|
|
NM_001079802.2(FKTN):c.677G>C (p.Gly226Ala)
|
rs2132899059
|
|
NM_001079802.2(FKTN):c.67T>C (p.Phe23Leu)
|
rs2132017664
|
|
NM_001079802.2(FKTN):c.690C>G (p.Leu230=)
|
|
|
NM_001079802.2(FKTN):c.696A>G (p.Pro232=)
|
|
|
NM_001079802.2(FKTN):c.69T>C (p.Phe23=)
|
rs1238906881
|
|
NM_001079802.2(FKTN):c.69T>G (p.Phe23Leu)
|
|
|
NM_001079802.2(FKTN):c.69dup (p.Gln24fs)
|
|
|
NM_001079802.2(FKTN):c.6T>C (p.Ser2=)
|
rs1350049256
|
|
NM_001079802.2(FKTN):c.705A>G (p.Pro235=)
|
rs1829190548
|
|
NM_001079802.2(FKTN):c.705A>T (p.Pro235=)
|
|
|
NM_001079802.2(FKTN):c.711C>G (p.His237Gln)
|
rs562170364
|
|
NM_001079802.2(FKTN):c.719AAG[1] (p.Glu241del)
|
rs1437925297
|
|
NM_001079802.2(FKTN):c.727C>G (p.Pro243Ala)
|
rs1564301303
|
|
NM_001079802.2(FKTN):c.730C>T (p.His244Tyr)
|
rs1194640294
|
|
NM_001079802.2(FKTN):c.738G>A (p.Arg246=)
|
|
|
NM_001079802.2(FKTN):c.73T>C (p.Leu25=)
|
rs2132017783
|
|
NM_001079802.2(FKTN):c.743T>C (p.Ile248Thr)
|
rs2132900809
|
|
NM_001079802.2(FKTN):c.745G>T (p.Glu249Ter)
|
|
|
NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)
|
|
|
NM_001079802.2(FKTN):c.750T>C (p.Cys250=)
|
rs2132901145
|
|
NM_001079802.2(FKTN):c.751A>G (p.Arg251Gly)
|
|
|
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)
|
rs1564301594
|
|
NM_001079802.2(FKTN):c.759A>G (p.Lys253=)
|
|
|
NM_001079802.2(FKTN):c.765T>C (p.Ala255=)
|
rs2132901560
|
|
NM_001079802.2(FKTN):c.766C>A (p.Arg256=)
|
rs377417974
|
|
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)
|
rs377417974
|
|
NM_001079802.2(FKTN):c.767G>A (p.Arg256Gln)
|
|
|
NM_001079802.2(FKTN):c.768A>C (p.Arg256=)
|
|
|
NM_001079802.2(FKTN):c.770del (p.Ala257fs)
|
rs1057516966
|
|
NM_001079802.2(FKTN):c.771A>G (p.Ala257=)
|
|
|
NM_001079802.2(FKTN):c.774C>G (p.Phe258Leu)
|
rs1829205310
|
|
NM_001079802.2(FKTN):c.780+10A>G
|
|
|
NM_001079802.2(FKTN):c.780+10A>T
|
rs2132902784
|
|
NM_001079802.2(FKTN):c.780+11A>G
|
rs1829208773
|
|
NM_001079802.2(FKTN):c.780+11del
|
rs931791589
|
|
NM_001079802.2(FKTN):c.780+12C>A
|
|
|
NM_001079802.2(FKTN):c.780+13C>G
|
|
|
NM_001079802.2(FKTN):c.780+15_780+16dup
|
rs765546968
|
|
NM_001079802.2(FKTN):c.780+16A>C
|
|
|
NM_001079802.2(FKTN):c.780+16A>G
|
|
|
NM_001079802.2(FKTN):c.780+18G>T
|
|
|
NM_001079802.2(FKTN):c.780+19T>C
|
rs752490932
|
|
NM_001079802.2(FKTN):c.780+1G>A
|
rs370819786
|
|
NM_001079802.2(FKTN):c.780+20G>A
|
rs560193714
|
|
NM_001079802.2(FKTN):c.780+20G>C
|
|
|
NM_001079802.2(FKTN):c.780+20G>T
|
|
|
NM_001079802.2(FKTN):c.780+2T>A
|
|
|
NM_001079802.2(FKTN):c.780+2T>C
|
rs1588136441
|
|
NM_001079802.2(FKTN):c.780+7G>A
|
|
|
NM_001079802.2(FKTN):c.780G>A (p.Gln260=)
|
rs1459814015
|
|
NM_001079802.2(FKTN):c.781-10A>C
|
rs2133098060
|
|
NM_001079802.2(FKTN):c.781-10A>T
|
rs2133098060
|
|
NM_001079802.2(FKTN):c.781-11_781-9del
|
rs1830613326
|
|
NM_001079802.2(FKTN):c.781-12T>C
|
|
|
NM_001079802.2(FKTN):c.781-14T>C
|
|
|
NM_001079802.2(FKTN):c.781-15T>A
|
|
|
NM_001079802.2(FKTN):c.781-17A>G
|
|
|
NM_001079802.2(FKTN):c.781-1G>A
|
|
|
NM_001079802.2(FKTN):c.781-3T>A
|
rs2133098515
|
|
NM_001079802.2(FKTN):c.781-4G>A
|
rs1588182774
|
|
NM_001079802.2(FKTN):c.781-8A>C
|
|
|
NM_001079802.2(FKTN):c.783G>A (p.Gln261=)
|
|
|
NM_001079802.2(FKTN):c.784T>C (p.Tyr262His)
|
|
|
NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg)
|
rs1564318575
|
|
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter)
|
rs369797361
|
|
NM_001079802.2(FKTN):c.794A>G (p.Asp265Gly)
|
rs2133098941
|
|
NM_001079802.2(FKTN):c.801T>C (p.Thr267=)
|
rs2133099117
|
|
NM_001079802.2(FKTN):c.803_804del (p.Val268fs)
|
|
|
NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg)
|
rs2133099564
|
|
NM_001079802.2(FKTN):c.82_83insGT (p.Tyr28fs)
|
|
|
NM_001079802.2(FKTN):c.835G>A (p.Glu279Lys)
|
|
|
NM_001079802.2(FKTN):c.836A>G (p.Glu279Gly)
|
|
|
NM_001079802.2(FKTN):c.838T>C (p.Leu280=)
|
rs2133099979
|
|
NM_001079802.2(FKTN):c.83A>G (p.Tyr28Cys)
|
rs374203636
|
|
NM_001079802.2(FKTN):c.840dup (p.Leu281fs)
|
|
|
NM_001079802.2(FKTN):c.841C>G (p.Leu281Val)
|
rs199697041
|
|
NM_001079802.2(FKTN):c.844C>T (p.Gln282Ter)
|
|
|
NM_001079802.2(FKTN):c.861A>C (p.Thr287=)
|
|
|
NM_001079802.2(FKTN):c.861A>G (p.Thr287=)
|
|
|
NM_001079802.2(FKTN):c.861A>T (p.Thr287=)
|
|
|
NM_001079802.2(FKTN):c.867C>T (p.Asn289=)
|
rs1554757882
|
|
NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter)
|
rs1438288380
|
|
NM_001079802.2(FKTN):c.877G>T (p.Val293Leu)
|
rs146900302
|
|
NM_001079802.2(FKTN):c.882A>G (p.Pro294=)
|
|
|
NM_001079802.2(FKTN):c.884T>A (p.Phe295Tyr)
|
rs1830635344
|
|
NM_001079802.2(FKTN):c.885C>G (p.Phe295Leu)
|
rs1564319328
|
|
NM_001079802.2(FKTN):c.898G>A (p.Gly300Arg)
|
|
|
NM_001079802.2(FKTN):c.900A>G (p.Gly300=)
|
|
|
NM_001079802.2(FKTN):c.905G>A (p.Cys302Tyr)
|
rs1554757939
|
|
NM_001079802.2(FKTN):c.907C>T (p.Leu303=)
|
rs147778604
|
|
NM_001079802.2(FKTN):c.90C>T (p.His30=)
|
rs2132018196
|
|
NM_001079802.2(FKTN):c.910+12A>G
|
|
|
NM_001079802.2(FKTN):c.910+13C>G
|
|
|
NM_001079802.2(FKTN):c.910+19T>C
|
rs771773538
|
|
NM_001079802.2(FKTN):c.910+19T>G
|
rs771773538
|
|
NM_001079802.2(FKTN):c.910+1G>C
|
|
|
NM_001079802.2(FKTN):c.910+7T>G
|
rs1830641729
|
|
NM_001079802.2(FKTN):c.910+8T>A
|
rs2133101895
|
|
NM_001079802.2(FKTN):c.911-13A>G
|
rs766103012
|
|
NM_001079802.2(FKTN):c.911-13A>T
|
rs766103012
|
|
NM_001079802.2(FKTN):c.911-16T>G
|
|
|
NM_001079802.2(FKTN):c.911-18A>T
|
|
|
NM_001079802.2(FKTN):c.911-2A>C
|
|
|
NM_001079802.2(FKTN):c.911-7T>C
|
rs2133160455
|
|
NM_001079802.2(FKTN):c.911-8C>T
|
rs749557617
|
|
NM_001079802.2(FKTN):c.911-8_911-6del
|
rs1235625341
|
|
NM_001079802.2(FKTN):c.912A>G (p.Gly304=)
|
rs778424333
|
|
NM_001079802.2(FKTN):c.912A>T (p.Gly304=)
|
|
|
NM_001079802.2(FKTN):c.914G>A (p.Trp305Ter)
|
rs2133160637
|
|
NM_001079802.2(FKTN):c.917A>G (p.Tyr306Cys)
|
|
|
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly)
|
rs267606814
|
|
NM_001079802.2(FKTN):c.921A>G (p.Arg307=)
|
|
|
NM_001079802.2(FKTN):c.934A>G (p.Ile312Val)
|
rs2133161218
|
|
NM_001079802.2(FKTN):c.938C>T (p.Pro313Leu)
|
rs1588204815
|
|
NM_001079802.2(FKTN):c.93T>A (p.Tyr31Ter)
|
rs2132018294
|
|
NM_001079802.2(FKTN):c.93T>C (p.Tyr31=)
|
rs2132018294
|
|
NM_001079802.2(FKTN):c.941A>G (p.Tyr314Cys)
|
rs1451453111
|
|
NM_001079802.2(FKTN):c.942T>G (p.Tyr314Ter)
|
rs970907026
|
|
NM_001079802.2(FKTN):c.952G>A (p.Val318Ile)
|
rs141120187
|
|
NM_001079802.2(FKTN):c.960A>T (p.Leu320=)
|
rs2133161727
|
|
NM_001079802.2(FKTN):c.961G>A (p.Gly321Arg)
|
rs1831143790
|
|
NM_001079802.2(FKTN):c.964A>T (p.Ile322Phe)
|
|
|
NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)
|
|
|
NM_001079802.2(FKTN):c.975A>C (p.Gln325His)
|
rs774410536
|
|
NM_001079802.2(FKTN):c.976G>A (p.Asp326Asn)
|
|
|
NM_001079802.2(FKTN):c.976G>T (p.Asp326Tyr)
|
|
|
NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly)
|
rs759791267
|
|
NM_001079802.2(FKTN):c.979_985dup (p.Ser329fs)
|
|
|
NM_001079802.2(FKTN):c.993T>C (p.Ile331=)
|
|
|
NM_001079802.2(FKTN):c.998T>C (p.Leu333Ser)
|
|
|
NM_001098272.3(HMGCS1):c.1289G>A (p.Arg430Lys)
|
|
|
NM_001098272.3(HMGCS1):c.1339T>C (p.Ser447Pro)
|
|
|
NM_001098272.3(HMGCS1):c.209T>C (p.Met70Thr)
|
|
|
NM_001098272.3(HMGCS1):c.344_345del (p.Ser115fs)
|
|
|
NM_001098272.3(HMGCS1):c.803G>C (p.Cys268Ser)
|
|
|
NM_001098272.3(HMGCS1):c.86A>T (p.Gln29Leu)
|
|
|
NM_001098272.3(HMGCS1):c.890G>T (p.Gly297Val)
|
|
|
NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del
|
|
|
NM_001101426.4(CRPPA):c.(534+1_535-1)_(933+1_934-1)del
|
|
|
NM_001101426.4(CRPPA):c.-14_10del (p.Met1_Gly4del)
|
|
|
NM_001101426.4(CRPPA):c.1008C>T (p.Tyr336=)
|
rs1783720072
|
|
NM_001101426.4(CRPPA):c.1017T>A (p.Val339=)
|
rs773884120
|
|
NM_001101426.4(CRPPA):c.1017T>C (p.Val339=)
|
rs773884120
|
|
NM_001101426.4(CRPPA):c.101G>A (p.Ser34Asn)
|
|
|
NM_001101426.4(CRPPA):c.1026+15A>G
|
|
|
NM_001101426.4(CRPPA):c.1026+5G>C
|
rs762349005
|
|
NM_001101426.4(CRPPA):c.1027-18A>G
|
|
|
NM_001101426.4(CRPPA):c.1040A>T (p.Asp347Val)
|
rs1583472575
|
|
NM_001101426.4(CRPPA):c.1081A>G (p.Ser361Gly)
|
|
|
NM_001101426.4(CRPPA):c.1082G>A (p.Ser361Asn)
|
rs2128412318
|
|
NM_001101426.4(CRPPA):c.108C>G (p.Ala36=)
|
rs1319812253
|
|
NM_001101426.4(CRPPA):c.1092C>A (p.Cys364Ter)
|
|
|
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)
|
rs587777798
|
|
NM_001101426.4(CRPPA):c.1112T>C (p.Val371Ala)
|
|
|
NM_001101426.4(CRPPA):c.1119+13A>G
|
rs2128412301
|
|
NM_001101426.4(CRPPA):c.1119+19G>T
|
rs755221887
|
|
NM_001101426.4(CRPPA):c.1119+3A>G
|
rs1783701192
|
|
NM_001101426.4(CRPPA):c.1120-12T>C
|
rs1331188356
|
|
NM_001101426.4(CRPPA):c.1120-12del
|
|
|
NM_001101426.4(CRPPA):c.1120-17T>C
|
|
|
NM_001101426.4(CRPPA):c.1120-1G>T
|
rs397515396
|
|
NM_001101426.4(CRPPA):c.1120-3C>G
|
|
|
NM_001101426.4(CRPPA):c.1120-4G>C
|
rs886042445
|
|
NM_001101426.4(CRPPA):c.1120-7T>C
|
rs2128398361
|
|
NM_001101426.4(CRPPA):c.1122T>G (p.Val374=)
|
|
|
NM_001101426.4(CRPPA):c.1133A>G (p.Asp378Gly)
|
rs1391543167
|
|
NM_001101426.4(CRPPA):c.1137dup (p.Lys380Ter)
|
|
|
NM_001101426.4(CRPPA):c.1139A>T (p.Lys380Ile)
|
rs747075828
|
|
NM_001101426.4(CRPPA):c.1147C>A (p.Pro383Thr)
|
rs571551238
|
|
NM_001101426.4(CRPPA):c.1148C>A (p.Pro383His)
|
rs758393771
|
|
NM_001101426.4(CRPPA):c.1152C>T (p.Pro384=)
|
|
|
NM_001101426.4(CRPPA):c.1155T>C (p.Ser385=)
|
|
|
NM_001101426.4(CRPPA):c.1167A>G (p.Glu389=)
|
rs2128398327
|
|
NM_001101426.4(CRPPA):c.1175T>G (p.Met392Arg)
|
rs1782301148
|
|
NM_001101426.4(CRPPA):c.1183A>G (p.Arg395Gly)
|
rs957843384
|
|
NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter)
|
rs886042554
|
|
NM_001101426.4(CRPPA):c.118C>G (p.Pro40Ala)
|
|
|
NM_001101426.4(CRPPA):c.1194A>C (p.Ala398=)
|
rs769147263
|
|
NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter)
|
rs1453431411
|
|
NM_001101426.4(CRPPA):c.1203A>G (p.Val401=)
|
|
|
NM_001101426.4(CRPPA):c.1206del (p.Glu403fs)
|
|
|
NM_001101426.4(CRPPA):c.1219T>C (p.Leu407=)
|
|
|
NM_001101426.4(CRPPA):c.121G>A (p.Gly41Arg)
|
|
|
NM_001101426.4(CRPPA):c.1224A>T (p.Leu408Phe)
|
rs931469039
|
|
NM_001101426.4(CRPPA):c.123G>A (p.Gly41=)
|
rs761842188
|
|
NM_001101426.4(CRPPA):c.124C>T (p.Arg42Cys)
|
rs1415518757
|
|
NM_001101426.4(CRPPA):c.1251+17T>A
|
rs2128398264
|
|
NM_001101426.4(CRPPA):c.1251+7A>T
|
|
|
NM_001101426.4(CRPPA):c.1252-3C>T
|
rs2128361106
|
|
NM_001101426.4(CRPPA):c.1252G>T (p.Asp418Tyr)
|
rs1781843954
|
|
NM_001101426.4(CRPPA):c.1257T>C (p.Asp419=)
|
rs2128361098
|
|
NM_001101426.4(CRPPA):c.1263G>A (p.Lys421=)
|
|
|
NM_001101426.4(CRPPA):c.1269G>A (p.Gln423=)
|
|
|
NM_001101426.4(CRPPA):c.1272G>C (p.Glu424Asp)
|
rs2064970438
|
|
NM_001101426.4(CRPPA):c.1275T>A (p.Ser425Arg)
|
rs1781843424
|
|
NM_001101426.4(CRPPA):c.1310T>C (p.Ile437Thr)
|
|
|
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)
|
rs1202301143
|
|
NM_001101426.4(CRPPA):c.1320A>G (p.Arg440=)
|
rs1474282728
|
|
NM_001101426.4(CRPPA):c.1338T>A (p.Gly446=)
|
|
|
NM_001101426.4(CRPPA):c.1338T>G (p.Gly446=)
|
rs1424229425
|
|
NM_001101426.4(CRPPA):c.1350A>G (p.Ile450Met)
|
rs1781841345
|
|
NM_001101426.4(CRPPA):c.1354T>C (p.Ter452Arg)
|
rs186882839
|
|
NM_001101426.4(CRPPA):c.138C>G (p.Ala46=)
|
rs1162623078
|
|
NM_001101426.4(CRPPA):c.159C>A (p.Ala53=)
|
|
|
NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp)
|
rs1036959263
|
|
NM_001101426.4(CRPPA):c.161G>C (p.Gly54Ala)
|
rs587777797
|
|
NM_001101426.4(CRPPA):c.165del (p.Cys56fs)
|
rs1554371369
|
|
NM_001101426.4(CRPPA):c.165dup (p.Cys56fs)
|
rs1554371369
|
|
NM_001101426.4(CRPPA):c.172G>A (p.Glu58Lys)
|
|
|
NM_001101426.4(CRPPA):c.178A>T (p.Met60Leu)
|
|
|
NM_001101426.4(CRPPA):c.17_24dup (p.Ala9fs)
|
|
|
NM_001101426.4(CRPPA):c.181G>C (p.Gly61Arg)
|
|
|
NM_001101426.4(CRPPA):c.184del (p.Val62fs)
|
rs1048457038
|
|
NM_001101426.4(CRPPA):c.211A>G (p.Ile71Val)
|
|
|
NM_001101426.4(CRPPA):c.21_44del (p.Ser8_Gly15del)
|
|
|
NM_001101426.4(CRPPA):c.220A>G (p.Arg74Gly)
|
rs1788324318
|
|
NM_001101426.4(CRPPA):c.221G>T (p.Arg74Met)
|
rs1292380177
|
|
NM_001101426.4(CRPPA):c.245A>C (p.Gln82Pro)
|
rs949985964
|
|
NM_001101426.4(CRPPA):c.245A>G (p.Gln82Arg)
|
rs949985964
|
|
NM_001101426.4(CRPPA):c.246G>A (p.Gln82=)
|
rs2128321451
|
|
NM_001101426.4(CRPPA):c.247G>T (p.Ala83Ser)
|
rs2128321450
|
|
NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter)
|
rs397514548
|
|
NM_001101426.4(CRPPA):c.257+11G>A
|
|
|
NM_001101426.4(CRPPA):c.257+17C>A
|
rs895474080
|
|
NM_001101426.4(CRPPA):c.257+7C>G
|
|
|
NM_001101426.4(CRPPA):c.257+8G>A
|
rs966346002
|
|
NM_001101426.4(CRPPA):c.258-18C>T
|
|
|
NM_001101426.4(CRPPA):c.258-19A>G
|
rs747712011
|
|
NM_001101426.4(CRPPA):c.258-1G>C
|
rs767978961
|
|
NM_001101426.4(CRPPA):c.258-2A>G
|
|
|
NM_001101426.4(CRPPA):c.258-3T>G
|
rs899936625
|
|
NM_001101426.4(CRPPA):c.258-8C>T
|
rs750772320
|
|
NM_001101426.4(CRPPA):c.25G>A (p.Ala9Thr)
|
rs909976918
|
|
NM_001101426.4(CRPPA):c.262T>C (p.Cys88Arg)
|
rs1384501487
|
|
NM_001101426.4(CRPPA):c.288A>G (p.Ala96=)
|
rs374684209
|
|
NM_001101426.4(CRPPA):c.303C>A (p.Asn101Lys)
|
rs1787953727
|
|
NM_001101426.4(CRPPA):c.315G>T (p.Met105Ile)
|
rs1190661385
|
|
NM_001101426.4(CRPPA):c.327T>A (p.Ile109=)
|
rs2128318470
|
|
NM_001101426.4(CRPPA):c.32C>T (p.Pro11Leu)
|
rs192925278
|
|
NM_001101426.4(CRPPA):c.334T>G (p.Tyr112Asp)
|
rs1281479457
|
|
NM_001101426.4(CRPPA):c.337C>T (p.Gln113Ter)
|
|
|
NM_001101426.4(CRPPA):c.344_345insT (p.Lys115fs)
|
|
|
NM_001101426.4(CRPPA):c.346C>G (p.Arg116Gly)
|
|
|
NM_001101426.4(CRPPA):c.351C>T (p.Ile117=)
|
|
|
NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln)
|
rs1356080750
|
|
NM_001101426.4(CRPPA):c.360C>G (p.Val120=)
|
rs183141256
|
|
NM_001101426.4(CRPPA):c.360C>T (p.Val120=)
|
rs183141256
|
|
NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro)
|
rs387907162
|
|
NM_001101426.4(CRPPA):c.368G>T (p.Gly123Val)
|
rs2128318458
|
|
NM_001101426.4(CRPPA):c.36_44del (p.Glu13_Gly15del)
|
rs990740417
|
|
NM_001101426.4(CRPPA):c.376C>G (p.Arg126Gly)
|
rs1472549168
|
|
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys)
|
rs1472549168
|
|
NM_001101426.4(CRPPA):c.377G>A (p.Arg126His)
|
|
|
NM_001101426.4(CRPPA):c.381C>T (p.His127=)
|
|
|
NM_001101426.4(CRPPA):c.384G>A (p.Arg128=)
|
rs759742555
|
|
NM_001101426.4(CRPPA):c.387A>C (p.Ser129=)
|
|
|
NM_001101426.4(CRPPA):c.393C>T (p.Phe131=)
|
|
|
NM_001101426.4(CRPPA):c.394A>T (p.Asn132Tyr)
|
rs2128318452
|
|
NM_001101426.4(CRPPA):c.408A>G (p.Ala136=)
|
rs541412708
|
|
NM_001101426.4(CRPPA):c.411G>C (p.Leu137=)
|
|
|
NM_001101426.4(CRPPA):c.412G>T (p.Ala138Ser)
|
rs1787948983
|
|
NM_001101426.4(CRPPA):c.425T>A (p.Ile142Asn)
|
rs1554363950
|
|
NM_001101426.4(CRPPA):c.426C>G (p.Ile142Met)
|
|
|
NM_001101426.4(CRPPA):c.43G>T (p.Gly15Cys)
|
rs1314652586
|
|
NM_001101426.4(CRPPA):c.441T>C (p.Ser147=)
|
|
|
NM_001101426.4(CRPPA):c.44G>T (p.Gly15Val)
|
rs573488291
|
|
NM_001101426.4(CRPPA):c.45T>A (p.Gly15=)
|
|
|
NM_001101426.4(CRPPA):c.463C>T (p.His155Tyr)
|
|
|
NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn)
|
rs397514547
|
|
NM_001101426.4(CRPPA):c.496G>A (p.Val166Ile)
|
rs2128318425
|
|
NM_001101426.4(CRPPA):c.508G>A (p.Val170Ile)
|
rs762819997
|
|
NM_001101426.4(CRPPA):c.526G>A (p.Glu176Lys)
|
rs2128318414
|
|
NM_001101426.4(CRPPA):c.52C>G (p.Leu18Val)
|
rs886043287
|
|
NM_001101426.4(CRPPA):c.52dup (p.Leu18fs)
|
rs2128321527
|
|
NM_001101426.4(CRPPA):c.534+13dup
|
|
|
NM_001101426.4(CRPPA):c.534+18A>G
|
rs2128318410
|
|
NM_001101426.4(CRPPA):c.534+1del
|
|
|
NM_001101426.4(CRPPA):c.534G>C (p.Gly178=)
|
rs200798632
|
|
NM_001101426.4(CRPPA):c.535-20T>G
|
rs2128312096
|
|
NM_001101426.4(CRPPA):c.54_55delinsTGC (p.Ser19fs)
|
rs2128321525
|
|
NM_001101426.4(CRPPA):c.550C>G (p.Arg184Gly)
|
rs370499190
|
|
NM_001101426.4(CRPPA):c.561A>T (p.Val187=)
|
rs376375569
|
|
NM_001101426.4(CRPPA):c.565A>T (p.Thr189Ser)
|
rs1786881434
|
|
NM_001101426.4(CRPPA):c.577C>T (p.Pro193Ser)
|
rs1275411039
|
|
NM_001101426.4(CRPPA):c.585T>G (p.Ala195=)
|
|
|
NM_001101426.4(CRPPA):c.602A>T (p.Tyr201Phe)
|
rs1198960792
|
|
NM_001101426.4(CRPPA):c.606G>C (p.Ser202=)
|
|
|
NM_001101426.4(CRPPA):c.614G>T (p.Arg205Leu)
|
|
|
NM_001101426.4(CRPPA):c.621A>G (p.Arg207=)
|
|
|
NM_001101426.4(CRPPA):c.623A>G (p.His208Arg)
|
|
|
NM_001101426.4(CRPPA):c.634G>A (p.Glu212Lys)
|
rs2128312068
|
|
NM_001101426.4(CRPPA):c.635A>C (p.Glu212Ala)
|
rs2128312067
|
|
NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg)
|
rs397515408
|
|
NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr)
|
rs886043226
|
|
NM_001101426.4(CRPPA):c.641C>T (p.Pro214Leu)
|
|
|
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys)
|
rs370627877
|
|
NM_001101426.4(CRPPA):c.646G>T (p.Ala216Ser)
|
rs1786876478
|
|
NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp)
|
rs387907160
|
|
NM_001101426.4(CRPPA):c.654A>C (p.Leu218=)
|
|
|
NM_001101426.4(CRPPA):c.657T>C (p.Phe219=)
|
|
|
NM_001101426.4(CRPPA):c.659A>G (p.Asp220Gly)
|
rs769223335
|
|
NM_001101426.4(CRPPA):c.669T>C (p.Tyr223=)
|
|
|
NM_001101426.4(CRPPA):c.674C>G (p.Ala225Gly)
|
rs1786875241
|
|
NM_001101426.4(CRPPA):c.684+11G>A
|
|
|
NM_001101426.4(CRPPA):c.684+12G>A
|
rs376232862
|
|
NM_001101426.4(CRPPA):c.684+13G>A
|
|
|
NM_001101426.4(CRPPA):c.684+14C>G
|
|
|
NM_001101426.4(CRPPA):c.684+16T>C
|
|
|
NM_001101426.4(CRPPA):c.685-25GTT[4]
|
rs142647500
|
|
NM_001101426.4(CRPPA):c.685-25GTT[6]
|
rs142647500
|
|
NM_001101426.4(CRPPA):c.686G>A (p.Cys229Tyr)
|
rs2128424737
|
|
NM_001101426.4(CRPPA):c.691G>C (p.Asp231His)
|
rs1784967390
|
|
NM_001101426.4(CRPPA):c.6G>T (p.Glu2Asp)
|
rs2128321553
|
|
NM_001101426.4(CRPPA):c.6_13dup (p.Pro5fs)
|
|
|
NM_001101426.4(CRPPA):c.704_705del (p.Glu235fs)
|
rs781097746
|
|
NM_001101426.4(CRPPA):c.706T>G (p.Phe236Val)
|
|
|
NM_001101426.4(CRPPA):c.711A>G (p.Gly237=)
|
|
|
NM_001101426.4(CRPPA):c.713C>G (p.Thr238Ser)
|
rs397515409
|
|
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile)
|
rs397515409
|
|
NM_001101426.4(CRPPA):c.722del (p.Leu241fs)
|
rs1554320168
|
|
NM_001101426.4(CRPPA):c.723G>A (p.Leu241=)
|
rs754775519
|
|
NM_001101426.4(CRPPA):c.729G>T (p.Leu243Phe)
|
rs1784965639
|
|
NM_001101426.4(CRPPA):c.735A>G (p.Leu245=)
|
|
|
NM_001101426.4(CRPPA):c.737A>G (p.Lys246Arg)
|
rs1583508021
|
|
NM_001101426.4(CRPPA):c.75C>T (p.Asp25=)
|
rs1292034515
|
|
NM_001101426.4(CRPPA):c.764T>C (p.Val255Ala)
|
rs2128424716
|
|
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter)
|
rs1466219701
|
|
NM_001101426.4(CRPPA):c.77A>C (p.His26Pro)
|
rs886044190
|
|
NM_001101426.4(CRPPA):c.784T>A (p.Trp262Arg)
|
|
|
NM_001101426.4(CRPPA):c.789+10A>T
|
|
|
NM_001101426.4(CRPPA):c.789+2T>G
|
rs397515397
|
|
NM_001101426.4(CRPPA):c.789+89A>C
|
|
|
NM_001101426.4(CRPPA):c.789+89_789+90delinsGA
|
|
|
NM_001101426.4(CRPPA):c.790-1G>C
|
rs2128422954
|
|
NM_001101426.4(CRPPA):c.79_80del (p.Thr27fs)
|
|
|
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter)
|
rs368593151
|
|
NM_001101426.4(CRPPA):c.816G>A (p.Ala272=)
|
rs754348253
|
|
NM_001101426.4(CRPPA):c.816G>T (p.Ala272=)
|
rs754348253
|
|
NM_001101426.4(CRPPA):c.824C>T (p.Ser275Leu)
|
rs1784787407
|
|
NM_001101426.4(CRPPA):c.82G>C (p.Ala28Pro)
|
rs2128321512
|
|
NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter)
|
rs387907161
|
|
NM_001101426.4(CRPPA):c.835+14T>G
|
|
|
NM_001101426.4(CRPPA):c.836-16T>A
|
|
|
NM_001101426.4(CRPPA):c.836-16_836-15insC
|
|
|
NM_001101426.4(CRPPA):c.836-19_836-18dup
|
rs3839757
|
|
NM_001101426.4(CRPPA):c.836-19dup
|
rs3839757
|
|
NM_001101426.4(CRPPA):c.836-5T>G
|
rs1583487698
|
|
NM_001101426.4(CRPPA):c.836-9del
|
rs3839757
|
|
NM_001101426.4(CRPPA):c.845C>T (p.Ser282Phe)
|
|
|
NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu)
|
rs750477422
|
|
NM_001101426.4(CRPPA):c.854T>G (p.Ile285Ser)
|
|
|
NM_001101426.4(CRPPA):c.861A>C (p.Val287=)
|
|
|
NM_001101426.4(CRPPA):c.864T>C (p.Val288=)
|
|
|
NM_001101426.4(CRPPA):c.865A>G (p.Met289Val)
|
|
|
NM_001101426.4(CRPPA):c.866T>G (p.Met289Arg)
|
|
|
NM_001101426.4(CRPPA):c.868G>A (p.Asp290Asn)
|
rs1784249249
|
|
NM_001101426.4(CRPPA):c.869A>G (p.Asp290Gly)
|
|
|
NM_001101426.4(CRPPA):c.872C>A (p.Thr291Lys)
|
rs764380983
|
|
NM_001101426.4(CRPPA):c.872C>T (p.Thr291Ile)
|
|
|
NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg)
|
rs1583487638
|
|
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs)
|
rs1554305719
|
|
NM_001101426.4(CRPPA):c.888A>G (p.Lys296=)
|
|
|
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg)
|
rs373890080
|
|
NM_001101426.4(CRPPA):c.895G>T (p.Gly299Cys)
|
rs373890080
|
|
NM_001101426.4(CRPPA):c.896del (p.Gly299fs)
|
|
|
NM_001101426.4(CRPPA):c.907G>C (p.Glu303Gln)
|
|
|
NM_001101426.4(CRPPA):c.915G>A (p.Val305=)
|
rs1466053365
|
|
NM_001101426.4(CRPPA):c.933+1G>A
|
rs1784247205
|
|
NM_001101426.4(CRPPA):c.933+5G>C
|
rs1554305652
|
|
NM_001101426.4(CRPPA):c.934-14T>A
|
|
|
NM_001101426.4(CRPPA):c.934-16T>C
|
|
|
NM_001101426.4(CRPPA):c.934-4C>A
|
|
|
NM_001101426.4(CRPPA):c.934-5A>G
|
rs886043337
|
|
NM_001101426.4(CRPPA):c.934-6T>A
|
|
|
NM_001101426.4(CRPPA):c.945C>T (p.Val315=)
|
rs1554300356
|
|
NM_001101426.4(CRPPA):c.963T>C (p.Gly321=)
|
|
|
NM_001101426.4(CRPPA):c.981T>A (p.Leu327=)
|
|
|
NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val)
|
rs886044693
|
|
NM_001101426.4(CRPPA):c.992T>C (p.Ile331Thr)
|
rs369141466
|
|
NM_001101426.4(CRPPA):c.994T>C (p.Leu332=)
|
rs2128412518
|
|
NM_001101426.4(CRPPA):c.999T>A (p.Asp333Glu)
|
rs376909665
|
|
NM_001101426.4(CRPPA):c.9C>T (p.Ala3=)
|
|
|
NM_001164508.2(NEB):c.7362C>G (p.Asn2454Lys)
|
rs1057518861
|
|
NM_001243766.2(POMGNT1):c.-50-671_-50-663dup
|
rs966546165
|
|
NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs)
|
rs886041287
|
|
NM_001267550.2(TTN):c.[106531+2T>A];[107867delT]
|
|
|
NM_001267550.2(TTN):c.[39547+3A>G];[42151+1G>C]
|
|
|
NM_001267550.2(TTN):c.[42315_42318delGAAA];[67349-2A>C]
|
|
|
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+2T>C
|
rs797044456
|
|
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.1111G>A (p.Gly371Arg)
|
|
|
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.1465del (p.Ala489fs)
|
rs797044458
|
|
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.1483C>T (p.Pro495Ser)
|
rs1569518677
|
|
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.1577G>T (p.Gly526Val)
|
rs121912934
|
|
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.1641_1642del (p.Asp548fs)
|
rs1569518771
|
|
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.1659_1667dup (p.Pro555_Asp557dup)
|
rs2123484082
|
|
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.1769G>A (p.Gly590Glu)
|
|
|
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.178G>T (p.Asp60Tyr)
|
rs2123460260
|
|
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+2_1813+3del
|
rs2077836463
|
|
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.1977C>G (p.Tyr659Ter)
|
rs121912937
|
|
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.2024G>C (p.Ser675Thr)
|
rs2077848878
|
|
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.211G>A (p.Asp71Asn)
|
|
|
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.234C>A (p.Tyr78Ter)
|
|
|
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.2460C>A (p.Cys820Ter)
|
rs2077858751
|
|
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.2551_2562del (p.Phe851_Arg854del)
|
|
|
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.340A>C (p.Lys114Gln)
|
|
|
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.787G>T (p.Gly263Cys)
|
rs1569517943
|
|
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.809_811del (p.Glu270_Arg271delinsGly)
|
rs1569518070
|
|
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.857del (p.Pro286fs)
|
rs797044457
|
|
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.869G>A (p.Gly290Glu)
|
rs1603590637
|
|
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>A (p.Gly296Glu)
|
rs1603590649
|
|
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+1G>T
|
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+2T>C
|
rs794727060
|
|
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_001848.3:c.19dup
|
|
|
NM_001849.3(COL6A2):c.-91_3071dup
|
|
|
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)
|
rs886043164
|
|
NM_001849.4(COL6A2):c.-27-3C>G
|
rs1288520983
|
|
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.101_104del (p.Asn34fs)
|
rs2123612919
|
|
NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)
|
|
|
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>C
|
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.1055delG
|
rs1555873507
|
|
NM_001849.4(COL6A2):c.1059del (p.Asp354fs)
|
rs1555873508
|
|
NM_001849.4(COL6A2):c.105C>A (p.Asn35Lys)
|
|
|
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.1117-10A>G
|
rs1568931397
|
|
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.111C>A (p.Cys37Ter)
|
rs986393872
|
|
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.1151dup (p.Glu386fs)
|
rs1601231322
|
|
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+1G>T
|
|
|
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.1269_1270insCATCATCCCTCTACATTTTTTAACCAAATCAACAACAACCTATTTAGCTGTTCCCCAACCTTTTCCTCCGACAGCCG (p.Gly424fs)
|
|
|
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.1275_1282del (p.Arg426fs)
|
|
|
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.1382dup (p.Asn461fs)
|
|
|
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.1488_1513del (p.Arg498fs)
|
|
|
NM_001849.4(COL6A2):c.1488_1514del (p.Arg498_Pro506del)
|
rs2123646706
|
|
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.1672-24C>G
|
rs3746995
|
|
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.1771-1G>A
|
rs748035948
|
|
NM_001849.4(COL6A2):c.1771-1G>T
|
rs748035948
|
|
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.1806C>A (p.Cys602Ter)
|
rs751987553
|
|
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>C
|
|
|
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>G
|
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.1843G>A (p.Asp615Asn)
|
|
|
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.1856_1861del (p.Val619_Ile620del)
|
rs398122821
|
|
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.1868C>T (p.Ser623Phe)
|
rs2123661865
|
|
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.1976G>C (p.Arg659Pro)
|
rs558005986
|
|
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.2040dup (p.Ile681fs)
|
rs886039905
|
|
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.2069C>G (p.Ala690Gly)
|
rs1568940242
|
|
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>A (p.Ala706Thr)
|
|
|
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>C (p.Asp712His)
|
|
|
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.2254_2255del (p.Val752fs)
|
|
|
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.2311_2325dup (p.Ile775_Ala776insAsnLeuTyrSerIle)
|
|
|
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+1G>A
|
rs113828929
|
|
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.2455C>T (p.Gln819Ter)
|
rs121912942
|
|
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.2497dup (p.Asp833fs)
|
|
|
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>G (p.Leu838Val)
|
|
|
NM_001849.4(COL6A2):c.2512C>T (p.Leu838=)
|
|
|
NM_001849.4(COL6A2):c.2513T>C (p.Leu838Pro)
|
rs1568947214
|
|
NM_001849.4(COL6A2):c.2519G>A (p.Gly840Asp)
|
rs2123454544
|
|
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.2626C>A (p.Arg876Ser)
|
rs387906608
|
|
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.2638_2656dup (p.Gly886fs)
|
|
|
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.3044_3047delinsACCA (p.Ile1015_Arg1016delinsAsnHis)
|
rs1601270334
|
|
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.439C>T (p.Gln147Ter)
|
rs2123615453
|
|
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.736-6T>C
|
|
|
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.801+631_882del
|
|
|
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+1G>T
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.855+38_856-32del
|
|
|
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.901-3C>G
|
rs112317259
|
|
NM_001849.4(COL6A2):c.901-6_903del
|
rs2123627113
|
|
NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser)
|
rs886042705
|
|
NM_001849.4(COL6A2):c.901G>T (p.Gly301Cys)
|
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.928-2A>G
|
rs1440070681
|
|
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.954G>T (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.955-2A>C
|
rs1555873084
|
|
NM_001849.4(COL6A2):c.955-2del
|
rs2078477419
|
|
NM_001849.4(COL6A2):c.955-3C>G
|
rs1208931749
|
|
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_002206.3(ITGA7):c.1009C>T (p.Leu337=)
|
rs1283397936
|
|
NM_002206.3(ITGA7):c.1012A>G (p.Ile338Val)
|
rs879008268
|
|
NM_002206.3(ITGA7):c.1013T>A (p.Ile338Lys)
|
rs1555163357
|
|
NM_002206.3(ITGA7):c.1021G>T (p.Ala341Ser)
|
rs1275951872
|
|
NM_002206.3(ITGA7):c.1025C>G (p.Pro342Arg)
|
rs1873179104
|
|
NM_002206.3(ITGA7):c.1029C>T (p.Tyr343=)
|
rs750511655
|
|
NM_002206.3(ITGA7):c.102C>A (p.Phe34Leu)
|
rs774959390
|
|
NM_002206.3(ITGA7):c.1050G>T (p.Glu350Asp)
|
|
|
NM_002206.3(ITGA7):c.1057G>A (p.Gly353Ser)
|
|
|
NM_002206.3(ITGA7):c.1059T>A (p.Gly353=)
|
|
|
NM_002206.3(ITGA7):c.1064T>C (p.Val355Ala)
|
rs1476977532
|
|
NM_002206.3(ITGA7):c.1064T>G (p.Val355Gly)
|
|
|
NM_002206.3(ITGA7):c.1071delinsAT (p.Tyr358fs)
|
rs2136033955
|
|
NM_002206.3(ITGA7):c.1077G>A (p.Leu359=)
|
|
|
NM_002206.3(ITGA7):c.1083G>A (p.Gln361=)
|
|
|
NM_002206.3(ITGA7):c.1086G>A (p.Gly362=)
|
|
|
NM_002206.3(ITGA7):c.1087G>C (p.Gly363Arg)
|
|
|
NM_002206.3(ITGA7):c.1088del (p.Gly363fs)
|
rs587780362
|
|
NM_002206.3(ITGA7):c.1088dup (p.His364fs)
|
rs587780362
|
|
NM_002206.3(ITGA7):c.1090C>T (p.His364Tyr)
|
|
|
NM_002206.3(ITGA7):c.1107C>T (p.Ser369=)
|
|
|
NM_002206.3(ITGA7):c.1114C>T (p.Arg372Trp)
|
rs752464052
|
|
NM_002206.3(ITGA7):c.1115G>A (p.Arg372Gln)
|
rs1397229961
|
|
NM_002206.3(ITGA7):c.1116G>A (p.Arg372=)
|
|
|
NM_002206.3(ITGA7):c.1116G>T (p.Arg372=)
|
|
|
NM_002206.3(ITGA7):c.111C>T (p.Asp37=)
|
rs1555166186
|
|
NM_002206.3(ITGA7):c.1127C>T (p.Ser376Phe)
|
|
|
NM_002206.3(ITGA7):c.1128C>T (p.Ser376=)
|
|
|
NM_002206.3(ITGA7):c.1144G>A (p.Gly382Arg)
|
|
|
NM_002206.3(ITGA7):c.1171C>T (p.Leu391Phe)
|
rs886049667
|
|
NM_002206.3(ITGA7):c.1193-11G>A
|
|
|
NM_002206.3(ITGA7):c.1193-14C>T
|
|
|
NM_002206.3(ITGA7):c.1205del (p.Gly402fs)
|
rs1565629479
|
|
NM_002206.3(ITGA7):c.1207G>A (p.Ala403Thr)
|
|
|
NM_002206.3(ITGA7):c.1212C>A (p.Pro404=)
|
|
|
NM_002206.3(ITGA7):c.1230A>T (p.Lys410Asn)
|
rs770309632
|
|
NM_002206.3(ITGA7):c.1236C>T (p.Phe412=)
|
rs368739986
|
|
NM_002206.3(ITGA7):c.1237A>C (p.Ile413Leu)
|
rs17857367
|
|
NM_002206.3(ITGA7):c.1238T>A (p.Ile413Asn)
|
|
|
NM_002206.3(ITGA7):c.1240T>C (p.Tyr414His)
|
|
|
NM_002206.3(ITGA7):c.1241A>C (p.Tyr414Ser)
|
|
|
NM_002206.3(ITGA7):c.1263T>G (p.Val421=)
|
rs1555162963
|
|
NM_002206.3(ITGA7):c.1281+19A>G
|
|
|
NM_002206.3(ITGA7):c.1282-5T>C
|
|
|
NM_002206.3(ITGA7):c.1282G>A (p.Val428Met)
|
|
|
NM_002206.3(ITGA7):c.1300G>A (p.Val434Met)
|
|
|
NM_002206.3(ITGA7):c.1303G>A (p.Gly435Ser)
|
rs1327699722
|
|
NM_002206.3(ITGA7):c.1318G>A (p.Gly440Ser)
|
|
|
NM_002206.3(ITGA7):c.1327_1328del (p.Leu443fs)
|
|
|
NM_002206.3(ITGA7):c.1336_1338dup (p.Ser446_Leu447insSer)
|
rs763061281
|
|
NM_002206.3(ITGA7):c.1356C>G (p.Asn452Lys)
|
|
|
NM_002206.3(ITGA7):c.1363C>G (p.Pro455Ala)
|
|
|
NM_002206.3(ITGA7):c.1365T>C (p.Pro455=)
|
rs761123599
|
|
NM_002206.3(ITGA7):c.1398A>G (p.Ala466=)
|
rs2136027129
|
|
NM_002206.3(ITGA7):c.13C>T (p.Arg5Trp)
|
|
|
NM_002206.3(ITGA7):c.1407C>T (p.Phe469=)
|
|
|
NM_002206.3(ITGA7):c.1409+10T>G
|
|
|
NM_002206.3(ITGA7):c.1409+5G>T
|
|
|
NM_002206.3(ITGA7):c.1409+7C>T
|
rs974347459
|
|
NM_002206.3(ITGA7):c.1409+9C>A
|
rs758349561
|
|
NM_002206.3(ITGA7):c.1410-10C>G
|
rs1872920089
|
|
NM_002206.3(ITGA7):c.1410-3del
|
rs773251917
|
|
NM_002206.3(ITGA7):c.1410-8A>G
|
rs1555162748
|
|
NM_002206.3(ITGA7):c.141G>A (p.Glu47=)
|
rs773307249
|
|
NM_002206.3(ITGA7):c.1436A>G (p.His479Arg)
|
rs1872908541
|
|
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs)
|
rs1474512248
|
|
NM_002206.3(ITGA7):c.1452T>C (p.Ala484=)
|
|
|
NM_002206.3(ITGA7):c.1456C>T (p.Arg486Ter)
|
rs372328960
|
|
NM_002206.3(ITGA7):c.1462A>T (p.Ile488Phe)
|
|
|
NM_002206.3(ITGA7):c.1464C>T (p.Ile488=)
|
rs202051829
|
|
NM_002206.3(ITGA7):c.1465G>A (p.Asp489Asn)
|
|
|
NM_002206.3(ITGA7):c.1474C>T (p.Gln492Ter)
|
rs2136025217
|
|
NM_002206.3(ITGA7):c.1477C>T (p.Pro493Ser)
|
rs947331149
|
|
NM_002206.3(ITGA7):c.1499C>G (p.Ser500Trp)
|
|
|
NM_002206.3(ITGA7):c.1500G>A (p.Ser500=)
|
|
|
NM_002206.3(ITGA7):c.1505+14G>C
|
rs940004287
|
|
NM_002206.3(ITGA7):c.1505+6G>A
|
|
|
NM_002206.3(ITGA7):c.1506-2A>G
|
rs1565627745
|
|
NM_002206.3(ITGA7):c.1506-6C>T
|
rs754520530
|
|
NM_002206.3(ITGA7):c.1518G>T (p.Arg506Ser)
|
rs1370186788
|
|
NM_002206.3(ITGA7):c.1535T>C (p.Ile512Thr)
|
|
|
NM_002206.3(ITGA7):c.1559C>G (p.Pro520Arg)
|
rs886049666
|
|
NM_002206.3(ITGA7):c.1567+11T>G
|
rs2136022324
|
|
NM_002206.3(ITGA7):c.1567+15C>G
|
|
|
NM_002206.3(ITGA7):c.1567+16C>A
|
rs199504152
|
|
NM_002206.3(ITGA7):c.1567+16C>G
|
rs199504152
|
|
NM_002206.3(ITGA7):c.1567+18T>C
|
|
|
NM_002206.3(ITGA7):c.1567+1G>A
|
rs1217190017
|
|
NM_002206.3(ITGA7):c.1567G>A (p.Ala523Thr)
|
rs762987922
|
|
NM_002206.3(ITGA7):c.1568-10C>A
|
|
|
NM_002206.3(ITGA7):c.1568C>G (p.Ala523Gly)
|
|
|
NM_002206.3(ITGA7):c.1578T>C (p.Tyr526=)
|
rs1402276907
|
|
NM_002206.3(ITGA7):c.1581G>A (p.Val527=)
|
rs2136020643
|
|
NM_002206.3(ITGA7):c.1588G>T (p.Ala530Ser)
|
rs1872768511
|
|
NM_002206.3(ITGA7):c.1589C>A (p.Ala530Glu)
|
rs200267194
|
|
NM_002206.3(ITGA7):c.1589C>G (p.Ala530Gly)
|
|
|
NM_002206.3(ITGA7):c.1592_1593delinsGG (p.Asp531Gly)
|
|
|
NM_002206.3(ITGA7):c.1601G>A (p.Arg534Gln)
|
rs774516318
|
|
NM_002206.3(ITGA7):c.1601G>C (p.Arg534Pro)
|
rs774516318
|
|
NM_002206.3(ITGA7):c.1602G>T (p.Arg534=)
|
rs764703944
|
|
NM_002206.3(ITGA7):c.1612G>A (p.Gly538Ser)
|
rs1565626956
|
|
NM_002206.3(ITGA7):c.1614C>T (p.Gly538=)
|
|
|
NM_002206.3(ITGA7):c.1632G>A (p.Thr544=)
|
|
|
NM_002206.3(ITGA7):c.1635C>T (p.Phe545=)
|
rs2136020061
|
|
NM_002206.3(ITGA7):c.1641C>A (p.Ser547Arg)
|
rs1369191520
|
|
NM_002206.3(ITGA7):c.1671C>G (p.Ala557=)
|
rs570999139
|
|
NM_002206.3(ITGA7):c.1674G>A (p.Ser558=)
|
|
|
NM_002206.3(ITGA7):c.167T>C (p.Val56Ala)
|
rs1268685956
|
|
NM_002206.3(ITGA7):c.1700A>G (p.His567Arg)
|
|
|
NM_002206.3(ITGA7):c.1706G>A (p.Arg569Gln)
|
rs1213645649
|
|
NM_002206.3(ITGA7):c.1719C>A (p.Asp573Glu)
|
rs530050340
|
|
NM_002206.3(ITGA7):c.171C>T (p.Ala57=)
|
rs769129367
|
|
NM_002206.3(ITGA7):c.171_181del (p.Leu58fs)
|
rs2136102011
|
|
NM_002206.3(ITGA7):c.1738-10C>T
|
|
|
NM_002206.3(ITGA7):c.1738-12T>C
|
|
|
NM_002206.3(ITGA7):c.1738-14C>T
|
rs1479084884
|
|
NM_002206.3(ITGA7):c.1738-4C>T
|
rs1200622030
|
|
NM_002206.3(ITGA7):c.1738-9T>A
|
|
|
NM_002206.3(ITGA7):c.1738G>A (p.Glu580Lys)
|
rs1338513420
|
|
NM_002206.3(ITGA7):c.1756C>A (p.Leu586Ile)
|
rs1378710493
|
|
NM_002206.3(ITGA7):c.1767del (p.Ile589fs)
|
|
|
NM_002206.3(ITGA7):c.1768G>T (p.Val590Leu)
|
rs2136015647
|
|
NM_002206.3(ITGA7):c.1774A>C (p.Thr592Pro)
|
|
|
NM_002206.3(ITGA7):c.178C>T (p.Arg60Trp)
|
rs374374611
|
|
NM_002206.3(ITGA7):c.1793A>C (p.Gln598Pro)
|
|
|
NM_002206.3(ITGA7):c.1801C>A (p.Arg601=)
|
|
|
NM_002206.3(ITGA7):c.1808G>A (p.Arg603Gln)
|
|
|
NM_002206.3(ITGA7):c.180dup (p.Gln61fs)
|
rs1565644465
|
|
NM_002206.3(ITGA7):c.1816G>T (p.Ala606Ser)
|
|
|
NM_002206.3(ITGA7):c.1825C>T (p.Gln609Ter)
|
rs148136365
|
|
NM_002206.3(ITGA7):c.1830G>A (p.Gly610=)
|
|
|
NM_002206.3(ITGA7):c.1872C>T (p.Ser624=)
|
|
|
NM_002206.3(ITGA7):c.187C>T (p.Gln63Ter)
|
rs1228677393
|
|
NM_002206.3(ITGA7):c.1887+12T>A
|
|
|
NM_002206.3(ITGA7):c.1887+14C>T
|
|
|
NM_002206.3(ITGA7):c.1887+2T>C
|
|
|
NM_002206.3(ITGA7):c.1888-5C>T
|
|
|
NM_002206.3(ITGA7):c.1896C>T (p.Phe632=)
|
rs2136009380
|
|
NM_002206.3(ITGA7):c.18C>T (p.Ser6=)
|
rs763827095
|
|
NM_002206.3(ITGA7):c.1950C>G (p.Val650=)
|
rs780521722
|
|
NM_002206.3(ITGA7):c.1952_1953delinsAT (p.Arg651His)
|
rs2136009020
|
|
NM_002206.3(ITGA7):c.1954G>A (p.Ala652Thr)
|
rs372579627
|
|
NM_002206.3(ITGA7):c.1954G>T (p.Ala652Ser)
|
|
|
NM_002206.3(ITGA7):c.1958G>A (p.Arg653His)
|
rs1872460000
|
|
NM_002206.3(ITGA7):c.1966del (p.Thr656fs)
|
|
|
NM_002206.3(ITGA7):c.1A>G (p.Met1Val)
|
|
|
NM_002206.3(ITGA7):c.2003+10dup
|
|
|
NM_002206.3(ITGA7):c.2003+11C>T
|
|
|
NM_002206.3(ITGA7):c.2003+5G>A
|
rs1872444994
|
|
NM_002206.3(ITGA7):c.2003+7G>T
|
rs1026026295
|
|
NM_002206.3(ITGA7):c.2004-1G>A
|
|
|
NM_002206.3(ITGA7):c.2011G>A (p.Asp671Asn)
|
|
|
NM_002206.3(ITGA7):c.2024C>G (p.Ala675Gly)
|
rs757891625
|
|
NM_002206.3(ITGA7):c.2053A>G (p.Ile685Val)
|
|
|
NM_002206.3(ITGA7):c.2054T>C (p.Ile685Thr)
|
|
|
NM_002206.3(ITGA7):c.2059C>T (p.Leu687=)
|
rs1465867726
|
|
NM_002206.3(ITGA7):c.206+14C>A
|
|
|
NM_002206.3(ITGA7):c.206+17G>T
|
|
|
NM_002206.3(ITGA7):c.206+18C>G
|
rs1481594612
|
|
NM_002206.3(ITGA7):c.206+2T>A
|
|
|
NM_002206.3(ITGA7):c.206+3G>A
|
rs2136101710
|
|
NM_002206.3(ITGA7):c.2068A>T (p.Met690Leu)
|
rs2136003763
|
|
NM_002206.3(ITGA7):c.207-15_207-10del
|
rs753950289
|
|
NM_002206.3(ITGA7):c.207-20G>T
|
rs757996389
|
|
NM_002206.3(ITGA7):c.207-9A>G
|
|
|
NM_002206.3(ITGA7):c.2070G>C (p.Met690Ile)
|
rs1872299582
|
|
NM_002206.3(ITGA7):c.2075C>A (p.Thr692Asn)
|
|
|
NM_002206.3(ITGA7):c.207G>A (p.Trp69Ter)
|
rs1874440714
|
|
NM_002206.3(ITGA7):c.2082G>A (p.Leu694=)
|
|
|
NM_002206.3(ITGA7):c.2088G>A (p.Ser696=)
|
rs1342614050
|
|
NM_002206.3(ITGA7):c.2094A>G (p.Pro698=)
|
rs1224102431
|
|
NM_002206.3(ITGA7):c.2103C>T (p.Pro701=)
|
|
|
NM_002206.3(ITGA7):c.2110G>T (p.Asp704Tyr)
|
rs1592433547
|
|
NM_002206.3(ITGA7):c.2116G>A (p.Asp706Asn)
|
|
|
NM_002206.3(ITGA7):c.2119G>A (p.Asp707Asn)
|
|
|
NM_002206.3(ITGA7):c.2121T>G (p.Asp707Glu)
|
|
|
NM_002206.3(ITGA7):c.2138T>C (p.Leu713Pro)
|
rs2136003155
|
|
NM_002206.3(ITGA7):c.2139C>G (p.Leu713=)
|
|
|
NM_002206.3(ITGA7):c.2140C>T (p.Leu714=)
|
|
|
NM_002206.3(ITGA7):c.2143G>A (p.Val715Ile)
|
|
|
NM_002206.3(ITGA7):c.2162T>C (p.Leu721Pro)
|
rs1565622175
|
|
NM_002206.3(ITGA7):c.2164C>T (p.His722Tyr)
|
rs1555161168
|
|
NM_002206.3(ITGA7):c.2167T>C (p.Tyr723His)
|
rs1565622130
|
|
NM_002206.3(ITGA7):c.2169_2171del (p.Tyr723_Ser724delinsTer)
|
rs1872274494
|
|
NM_002206.3(ITGA7):c.216G>A (p.Val72=)
|
|
|
NM_002206.3(ITGA7):c.2176G>A (p.Val726Ile)
|
rs2136002840
|
|
NM_002206.3(ITGA7):c.2177T>A (p.Val726Asp)
|
rs1872272958
|
|
NM_002206.3(ITGA7):c.2179C>T (p.Arg727Trp)
|
|
|
NM_002206.3(ITGA7):c.2182del (p.Ala728fs)
|
rs1565622052
|
|
NM_002206.3(ITGA7):c.2183C>A (p.Ala728Asp)
|
rs750267153
|
|
NM_002206.3(ITGA7):c.2188G>C (p.Asp730His)
|
rs1872270795
|
|
NM_002206.3(ITGA7):c.2196+14G>T
|
|
|
NM_002206.3(ITGA7):c.2196+20A>G
|
|
|
NM_002206.3(ITGA7):c.2196G>A (p.Ala732=)
|
|
|
NM_002206.3(ITGA7):c.2197-18C>T
|
|
|
NM_002206.3(ITGA7):c.2197-2A>G
|
|
|
NM_002206.3(ITGA7):c.2197-8del
|
rs1555161122
|
|
NM_002206.3(ITGA7):c.2219A>G (p.Asn740Ser)
|
rs758279149
|
|
NM_002206.3(ITGA7):c.2229C>T (p.Ala743=)
|
|
|
NM_002206.3(ITGA7):c.2235T>C (p.His745=)
|
rs1592432508
|
|
NM_002206.3(ITGA7):c.2269G>A (p.Gly757Ser)
|
|
|
NM_002206.3(ITGA7):c.226C>T (p.Gln76Ter)
|
rs2136073462
|
|
NM_002206.3(ITGA7):c.2273C>T (p.Ala758Val)
|
|
|
NM_002206.3(ITGA7):c.2276del (p.Gln759fs)
|
|
|
NM_002206.3(ITGA7):c.2281A>G (p.Thr761Ala)
|
|
|
NM_002206.3(ITGA7):c.2282C>G (p.Thr761Ser)
|
rs550342721
|
|
NM_002206.3(ITGA7):c.2286C>A (p.Phe762Leu)
|
|
|
NM_002206.3(ITGA7):c.2288A>G (p.Tyr763Cys)
|
|
|
NM_002206.3(ITGA7):c.2290C>T (p.Leu764Phe)
|
rs768591509
|
|
NM_002206.3(ITGA7):c.2295C>T (p.Ile765=)
|
rs181711509
|
|
NM_002206.3(ITGA7):c.2307C>G (p.Ser769=)
|
rs781670676
|
|
NM_002206.3(ITGA7):c.2308G>A (p.Gly770Arg)
|
rs757534042
|
|
NM_002206.3(ITGA7):c.2328G>T (p.Thr776=)
|
rs369566439
|
|
NM_002206.3(ITGA7):c.2331A>G (p.Glu777=)
|
|
|
NM_002206.3(ITGA7):c.2331_2344del (p.Glu777fs)
|
rs2135999822
|
|
NM_002206.3(ITGA7):c.2336A>C (p.Glu779Ala)
|
|
|
NM_002206.3(ITGA7):c.2339T>C (p.Val780Ala)
|
rs772845920
|
|
NM_002206.3(ITGA7):c.2347C>A (p.Leu783Met)
|
rs1872177936
|
|
NM_002206.3(ITGA7):c.2357+12G>A
|
|
|
NM_002206.3(ITGA7):c.2357+12G>T
|
|
|
NM_002206.3(ITGA7):c.2357C>T (p.Thr786Met)
|
|
|
NM_002206.3(ITGA7):c.2358-8C>G
|
rs1175401769
|
|
NM_002206.3(ITGA7):c.2363G>A (p.Ser788Asn)
|
rs956532606
|
|
NM_002206.3(ITGA7):c.236C>T (p.Ala79Val)
|
|
|
NM_002206.3(ITGA7):c.2380C>A (p.Pro794Thr)
|
rs1872133759
|
|
NM_002206.3(ITGA7):c.2387C>T (p.Ser796Phe)
|
rs2135998252
|
|
NM_002206.3(ITGA7):c.238C>T (p.Leu80Phe)
|
rs762003289
|
|
NM_002206.3(ITGA7):c.2392C>G (p.Arg798Gly)
|
rs755438542
|
|
NM_002206.3(ITGA7):c.2397C>T (p.Ala799=)
|
|
|
NM_002206.3(ITGA7):c.2399G>C (p.Arg800Pro)
|
rs143929243
|
|
NM_002206.3(ITGA7):c.2418A>G (p.Pro806=)
|
rs1285071627
|
|
NM_002206.3(ITGA7):c.2419C>T (p.Leu807=)
|
|
|
NM_002206.3(ITGA7):c.2428G>C (p.Ala810Pro)
|
rs1387658204
|
|
NM_002206.3(ITGA7):c.2432+11C>A
|
rs555855033
|
|
NM_002206.3(ITGA7):c.2433-3C>T
|
rs1592429145
|
|
NM_002206.3(ITGA7):c.2446C>T (p.Gln816Ter)
|
rs1565620275
|
|
NM_002206.3(ITGA7):c.2453TCT[2] (p.Phe820del)
|
rs889073101
|
|
NM_002206.3(ITGA7):c.2454C>G (p.Leu818=)
|
rs569417690
|
|
NM_002206.3(ITGA7):c.2466T>A (p.Gly822=)
|
|
|
NM_002206.3(ITGA7):c.2471T>G (p.Val824Gly)
|
rs2135996532
|
|
NM_002206.3(ITGA7):c.2483G>A (p.Arg828Lys)
|
|
|
NM_002206.3(ITGA7):c.2491C>T (p.Gln831Ter)
|
|
|
NM_002206.3(ITGA7):c.2500C>T (p.Arg834Trp)
|
rs770155717
|
|
NM_002206.3(ITGA7):c.2535+19G>A
|
|
|
NM_002206.3(ITGA7):c.2535+20C>T
|
|
|
NM_002206.3(ITGA7):c.2536-17CT[2]
|
rs1226019088
|
|
NM_002206.3(ITGA7):c.2536-8dup
|
|
|
NM_002206.3(ITGA7):c.253G>A (p.Ala85Thr)
|
|
|
NM_002206.3(ITGA7):c.2571C>A (p.Gly857=)
|
|
|
NM_002206.3(ITGA7):c.2580C>G (p.Phe860Leu)
|
rs771755133
|
|
NM_002206.3(ITGA7):c.2585A>G (p.Asn862Ser)
|
rs2135990456
|
|
NM_002206.3(ITGA7):c.2590A>G (p.Met864Val)
|
|
|
NM_002206.3(ITGA7):c.2601T>C (p.His867=)
|
|
|
NM_002206.3(ITGA7):c.2604G>A (p.Glu868=)
|
|
|
NM_002206.3(ITGA7):c.2642T>A (p.Val881Asp)
|
rs794727321
|
|
NM_002206.3(ITGA7):c.2642T>C (p.Val881Ala)
|
|
|
NM_002206.3(ITGA7):c.2655C>T (p.Gly885=)
|
rs751647692
|
|
NM_002206.3(ITGA7):c.2667T>A (p.Pro889=)
|
|
|
NM_002206.3(ITGA7):c.2670del (p.Gln891fs)
|
|
|
NM_002206.3(ITGA7):c.2699A>G (p.Asn900Ser)
|
|
|
NM_002206.3(ITGA7):c.2706C>T (p.Leu902=)
|
|
|
NM_002206.3(ITGA7):c.2710del (p.Leu904fs)
|
|
|
NM_002206.3(ITGA7):c.2712+18G>A
|
|
|
NM_002206.3(ITGA7):c.2712+20G>A
|
|
|
NM_002206.3(ITGA7):c.2712+2T>C
|
rs774985604
|
|
NM_002206.3(ITGA7):c.2712+9T>G
|
|
|
NM_002206.3(ITGA7):c.2717T>C (p.Val906Ala)
|
|
|
NM_002206.3(ITGA7):c.2719G>A (p.Asp907Asn)
|
rs2135988000
|
|
NM_002206.3(ITGA7):c.2720A>G (p.Asp907Gly)
|
rs1365101018
|
|
NM_002206.3(ITGA7):c.2741G>A (p.Arg914Gln)
|
|
|
NM_002206.3(ITGA7):c.2742G>C (p.Arg914=)
|
rs1871774827
|
|
NM_002206.3(ITGA7):c.2748G>C (p.Leu916=)
|
|
|
NM_002206.3(ITGA7):c.2749dup (p.Glu917fs)
|
rs1871773510
|
|
NM_002206.3(ITGA7):c.2775T>C (p.Gly925=)
|
|
|
NM_002206.3(ITGA7):c.2778G>A (p.Glu926=)
|
rs770758451
|
|
NM_002206.3(ITGA7):c.277G>C (p.Ala93Pro)
|
rs777338785
|
|
NM_002206.3(ITGA7):c.2780G>T (p.Arg927Leu)
|
rs200712509
|
|
NM_002206.3(ITGA7):c.2811G>T (p.Val937=)
|
rs376856133
|
|
NM_002206.3(ITGA7):c.2813C>G (p.Ser938Cys)
|
|
|
NM_002206.3(ITGA7):c.2817del (p.Ala940fs)
|
|
|
NM_002206.3(ITGA7):c.2845-16C>A
|
|
|
NM_002206.3(ITGA7):c.284C>G (p.Pro95Arg)
|
rs143749139
|
|
NM_002206.3(ITGA7):c.285G>A (p.Pro95=)
|
|
|
NM_002206.3(ITGA7):c.285G>T (p.Pro95=)
|
rs17854601
|
|
NM_002206.3(ITGA7):c.2861C>G (p.Thr954Arg)
|
rs142361411
|
|
NM_002206.3(ITGA7):c.2861C>T (p.Thr954Met)
|
rs142361411
|
|
NM_002206.3(ITGA7):c.2883C>T (p.Ser961=)
|
|
|
NM_002206.3(ITGA7):c.2906G>A (p.Arg969His)
|
|
|
NM_002206.3(ITGA7):c.291C>T (p.Ser97=)
|
rs2136072794
|
|
NM_002206.3(ITGA7):c.2931C>A (p.Gly977=)
|
|
|
NM_002206.3(ITGA7):c.2935C>A (p.Leu979Ile)
|
rs1870838499
|
|
NM_002206.3(ITGA7):c.2943C>T (p.Asn981=)
|
|
|
NM_002206.3(ITGA7):c.2957A>T (p.Glu986Val)
|
rs1478962916
|
|
NM_002206.3(ITGA7):c.2958+13del
|
|
|
NM_002206.3(ITGA7):c.2959-17C>T
|
|
|
NM_002206.3(ITGA7):c.2959-2A>G
|
|
|
NM_002206.3(ITGA7):c.2959-4T>G
|
|
|
NM_002206.3(ITGA7):c.2959-6C>T
|
rs751248425
|
|
NM_002206.3(ITGA7):c.2959-7C>G
|
rs947369641
|
|
NM_002206.3(ITGA7):c.2969C>T (p.Ala990Val)
|
|
|
NM_002206.3(ITGA7):c.2971G>C (p.Val991Leu)
|
rs1268555212
|
|
NM_002206.3(ITGA7):c.2980C>G (p.Leu994Val)
|
|
|
NM_002206.3(ITGA7):c.2988_2989inv (p.Ile997Leu)
|
|
|
NM_002206.3(ITGA7):c.2996G>A (p.Arg999Gln)
|
|
|
NM_002206.3(ITGA7):c.2996G>T (p.Arg999Leu)
|
rs372579814
|
|
NM_002206.3(ITGA7):c.29G>A (p.Trp10Ter)
|
rs775325159
|
|
NM_002206.3(ITGA7):c.3006C>T (p.Ile1002=)
|
rs2135955748
|
|
NM_002206.3(ITGA7):c.3010G>A (p.Val1004Met)
|
rs776269261
|
|
NM_002206.3(ITGA7):c.3013A>C (p.Lys1005Gln)
|
rs2135955715
|
|
NM_002206.3(ITGA7):c.3027G>C (p.Lys1009Asn)
|
|
|
NM_002206.3(ITGA7):c.3055G>C (p.Val1019Leu)
|
|
|
NM_002206.3(ITGA7):c.3057+12G>A
|
rs767729751
|
|
NM_002206.3(ITGA7):c.3057+12G>C
|
rs767729751
|
|
NM_002206.3(ITGA7):c.3057+12G>T
|
|
|
NM_002206.3(ITGA7):c.3057+16G>A
|
|
|
NM_002206.3(ITGA7):c.3057+19_3057+20del
|
rs2135955167
|
|
NM_002206.3(ITGA7):c.3057+20G>T
|
|
|
NM_002206.3(ITGA7):c.3057+7T>C
|
|
|
NM_002206.3(ITGA7):c.3058-13C>T
|
|
|
NM_002206.3(ITGA7):c.3058-20A>G
|
|
|
NM_002206.3(ITGA7):c.3058-5C>T
|
rs1555158331
|
|
NM_002206.3(ITGA7):c.3058-6C>G
|
|
|
NM_002206.3(ITGA7):c.3058-9G>A
|
|
|
NM_002206.3(ITGA7):c.3060C>G (p.Ile1020Met)
|
|
|
NM_002206.3(ITGA7):c.3072A>G (p.Val1024=)
|
|
|
NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter)
|
rs754699820
|
|
NM_002206.3(ITGA7):c.3090T>C (p.Ala1030=)
|
|
|
NM_002206.3(ITGA7):c.3108G>A (p.Val1036=)
|
rs1439804414
|
|
NM_002206.3(ITGA7):c.3113G>T (p.Trp1038Leu)
|
|
|
NM_002206.3(ITGA7):c.3118G>C (p.Val1040Leu)
|
|
|
NM_002206.3(ITGA7):c.3158C>G (p.Ala1053Gly)
|
rs1239418668
|
|
NM_002206.3(ITGA7):c.3158C>T (p.Ala1053Val)
|
rs1239418668
|
|
NM_002206.3(ITGA7):c.3166G>C (p.Val1056Leu)
|
rs2135953526
|
|
NM_002206.3(ITGA7):c.3169C>A (p.Leu1057Met)
|
rs2135953491
|
|
NM_002206.3(ITGA7):c.3183+15_3183+17del
|
rs1403525305
|
|
NM_002206.3(ITGA7):c.3183+17G>A
|
rs190974181
|
|
NM_002206.3(ITGA7):c.3183+20C>A
|
|
|
NM_002206.3(ITGA7):c.3184-18G>A
|
|
|
NM_002206.3(ITGA7):c.3184-3T>C
|
rs950519835
|
|
NM_002206.3(ITGA7):c.3184-5T>A
|
|
|
NM_002206.3(ITGA7):c.3184-6T>C
|
rs1869839658
|
|
NM_002206.3(ITGA7):c.3184-6T>G
|
rs1869839658
|
|
NM_002206.3(ITGA7):c.3210C>T (p.His1070=)
|
rs773180024
|
|
NM_002206.3(ITGA7):c.3218C>A (p.Ala1073Asp)
|
rs2135931760
|
|
NM_002206.3(ITGA7):c.3221C>T (p.Thr1074Ile)
|
|
|
NM_002206.3(ITGA7):c.3225G>T (p.Val1075=)
|
rs565075865
|
|
NM_002206.3(ITGA7):c.3235C>T (p.His1079Tyr)
|
|
|
NM_002206.3(ITGA7):c.3239C>T (p.Ala1080Val)
|
|
|
NM_002206.3(ITGA7):c.3247A>T (p.Ile1083Phe)
|
|
|
NM_002206.3(ITGA7):c.324C>T (p.Ile108=)
|
|
|
NM_002206.3(ITGA7):c.3290G>T (p.Gly1097Val)
|
|
|
NM_002206.3(ITGA7):c.3316_3325del (p.Ser1106fs)
|
rs2135930888
|
|
NM_002206.3(ITGA7):c.3318C>G (p.Ser1106Arg)
|
rs1229031292
|
|
NM_002206.3(ITGA7):c.3318C>T (p.Ser1106=)
|
rs1229031292
|
|
NM_002206.3(ITGA7):c.3335C>G (p.Pro1112Arg)
|
rs146183145
|
|
NM_002206.3(ITGA7):c.334+1G>T
|
rs2136072590
|
|
NM_002206.3(ITGA7):c.334+8C>A
|
rs370675255
|
|
NM_002206.3(ITGA7):c.3348C>G (p.Pro1116=)
|
rs376336569
|
|
NM_002206.3(ITGA7):c.3348C>T (p.Pro1116=)
|
rs376336569
|
|
NM_002206.3(ITGA7):c.3349A>C (p.Ile1117Leu)
|
rs1482793424
|
|
NM_002206.3(ITGA7):c.3349A>G (p.Ile1117Val)
|
|
|
NM_002206.3(ITGA7):c.335-11C>T
|
|
|
NM_002206.3(ITGA7):c.3355G>A (p.Ala1119Thr)
|
|
|
NM_002206.3(ITGA7):c.3373G>A (p.Glu1125Lys)
|
rs371203166
|
|
NM_002206.3(ITGA7):c.3373G>C (p.Glu1125Gln)
|
rs371203166
|
|
NM_002206.3(ITGA7):c.3387T>C (p.Asp1129=)
|
rs374209166
|
|
NM_002206.3(ITGA7):c.3394C>G (p.Pro1132Ala)
|
|
|
NM_002206.3(ITGA7):c.33G>T (p.Gly11=)
|
rs1875517187
|
|
NM_002206.3(ITGA7):c.3405C>T (p.Gly1135=)
|
|
|
NM_002206.3(ITGA7):c.34dup (p.Ala12fs)
|
rs1384460756
|
|
NM_002206.3(ITGA7):c.353G>A (p.Ser118Asn)
|
rs2136071414
|
|
NM_002206.3(ITGA7):c.380G>C (p.Ser127Thr)
|
|
|
NM_002206.3(ITGA7):c.399T>C (p.Pro133=)
|
|
|
NM_002206.3(ITGA7):c.414+16C>T
|
|
|
NM_002206.3(ITGA7):c.414+17A>G
|
|
|
NM_002206.3(ITGA7):c.415-3C>A
|
|
|
NM_002206.3(ITGA7):c.415-3del
|
rs770809693
|
|
NM_002206.3(ITGA7):c.415-6C>T
|
rs147118570
|
|
NM_002206.3(ITGA7):c.455A>G (p.Gln152Arg)
|
rs1368214112
|
|
NM_002206.3(ITGA7):c.467C>A (p.Thr156Lys)
|
rs375671999
|
|
NM_002206.3(ITGA7):c.467C>T (p.Thr156Met)
|
rs375671999
|
|
NM_002206.3(ITGA7):c.469C>T (p.Arg157Trp)
|
rs768285629
|
|
NM_002206.3(ITGA7):c.475A>G (p.Met159Val)
|
rs749262192
|
|
NM_002206.3(ITGA7):c.496C>A (p.Leu166Ile)
|
rs1261268090
|
|
NM_002206.3(ITGA7):c.498C>T (p.Leu166=)
|
rs2136056354
|
|
NM_002206.3(ITGA7):c.510G>A (p.Leu170=)
|
rs2136056268
|
|
NM_002206.3(ITGA7):c.517C>A (p.Arg173=)
|
|
|
NM_002206.3(ITGA7):c.517del (p.Arg173fs)
|
rs2136056222
|
|
NM_002206.3(ITGA7):c.559C>T (p.Arg187Cys)
|
|
|
NM_002206.3(ITGA7):c.572A>G (p.His191Arg)
|
rs1565635502
|
|
NM_002206.3(ITGA7):c.595C>G (p.Gln199Glu)
|
rs2136055708
|
|
NM_002206.3(ITGA7):c.601A>G (p.Thr201Ala)
|
rs1592466319
|
|
NM_002206.3(ITGA7):c.602C>T (p.Thr201Ile)
|
|
|
NM_002206.3(ITGA7):c.605C>T (p.Ala202Val)
|
rs1873873897
|
|
NM_002206.3(ITGA7):c.60C>T (p.Gly20=)
|
|
|
NM_002206.3(ITGA7):c.622G>A (p.Asp208Asn)
|
rs1168695605
|
|
NM_002206.3(ITGA7):c.632A>G (p.Tyr211Cys)
|
|
|
NM_002206.3(ITGA7):c.668A>G (p.Lys223Arg)
|
rs1263731616
|
|
NM_002206.3(ITGA7):c.66G>C (p.Leu22=)
|
|
|
NM_002206.3(ITGA7):c.670+1G>A
|
rs1873861004
|
|
NM_002206.3(ITGA7):c.671-14C>T
|
|
|
NM_002206.3(ITGA7):c.671-16A>G
|
|
|
NM_002206.3(ITGA7):c.671-1G>A
|
rs777049999
|
|
NM_002206.3(ITGA7):c.671-285A>G
|
rs1873675449
|
|
NM_002206.3(ITGA7):c.671-5C>A
|
rs180841797
|
|
NM_002206.3(ITGA7):c.671-5C>G
|
|
|
NM_002206.3(ITGA7):c.671-5C>T
|
rs180841797
|
|
NM_002206.3(ITGA7):c.676C>T (p.Leu226Phe)
|
rs2136047008
|
|
NM_002206.3(ITGA7):c.680T>G (p.Phe227Cys)
|
|
|
NM_002206.3(ITGA7):c.689A>G (p.Asn230Ser)
|
|
|
NM_002206.3(ITGA7):c.703G>T (p.Asp235Tyr)
|
|
|
NM_002206.3(ITGA7):c.704A>T (p.Asp235Val)
|
|
|
NM_002206.3(ITGA7):c.705C>T (p.Asp235=)
|
|
|
NM_002206.3(ITGA7):c.708C>G (p.Pro236=)
|
rs555521550
|
|
NM_002206.3(ITGA7):c.70G>A (p.Val24Ile)
|
|
|
NM_002206.3(ITGA7):c.745C>T (p.Arg249Trp)
|
rs779668899
|
|
NM_002206.3(ITGA7):c.750C>T (p.Leu250=)
|
|
|
NM_002206.3(ITGA7):c.75A>G (p.Glu25=)
|
|
|
NM_002206.3(ITGA7):c.762C>A (p.Ala254=)
|
rs376003902
|
|
NM_002206.3(ITGA7):c.762C>T (p.Ala254=)
|
rs376003902
|
|
NM_002206.3(ITGA7):c.763G>A (p.Gly255Arg)
|
|
|
NM_002206.3(ITGA7):c.768C>T (p.Asp256=)
|
|
|
NM_002206.3(ITGA7):c.773C>T (p.Ala258Val)
|
|
|
NM_002206.3(ITGA7):c.774C>T (p.Ala258=)
|
|
|
NM_002206.3(ITGA7):c.790+1G>A
|
rs2136045991
|
|
NM_002206.3(ITGA7):c.790+5G>A
|
|
|
NM_002206.3(ITGA7):c.790+7A>C
|
|
|
NM_002206.3(ITGA7):c.791-12C>T
|
|
|
NM_002206.3(ITGA7):c.791-4_791-3dup
|
|
|
NM_002206.3(ITGA7):c.793T>C (p.Phe265Leu)
|
rs2136037935
|
|
NM_002206.3(ITGA7):c.800T>C (p.Ile267Thr)
|
|
|
NM_002206.3(ITGA7):c.807G>A (p.Ser269=)
|
|
|
NM_002206.3(ITGA7):c.810G>T (p.Gly270=)
|
rs3847675
|
|
NM_002206.3(ITGA7):c.81C>T (p.Leu27=)
|
|
|
NM_002206.3(ITGA7):c.824G>C (p.Arg275Pro)
|
rs74867235
|
|
NM_002206.3(ITGA7):c.824G>T (p.Arg275Leu)
|
|
|
NM_002206.3(ITGA7):c.832G>A (p.Glu278Lys)
|
|
|
NM_002206.3(ITGA7):c.840C>T (p.Ser280=)
|
|
|
NM_002206.3(ITGA7):c.843T>C (p.Phe281=)
|
|
|
NM_002206.3(ITGA7):c.846G>T (p.Val282=)
|
rs2136037282
|
|
NM_002206.3(ITGA7):c.853G>C (p.Ala285Pro)
|
rs2136037242
|
|
NM_002206.3(ITGA7):c.859C>A (p.Arg287Ser)
|
rs563941470
|
|
NM_002206.3(ITGA7):c.859C>T (p.Arg287Cys)
|
rs563941470
|
|
NM_002206.3(ITGA7):c.85T>C (p.Ser29Pro)
|
rs1592497233
|
|
NM_002206.3(ITGA7):c.861C>T (p.Arg287=)
|
|
|
NM_002206.3(ITGA7):c.862G>A (p.Ala288Thr)
|
|
|
NM_002206.3(ITGA7):c.933G>A (p.Leu311=)
|
|
|
NM_002206.3(ITGA7):c.933G>C (p.Leu311=)
|
rs1171974152
|
|
NM_002206.3(ITGA7):c.943C>T (p.Arg315Cys)
|
|
|
NM_002206.3(ITGA7):c.944G>A (p.Arg315His)
|
rs201994133
|
|
NM_002206.3(ITGA7):c.944G>C (p.Arg315Pro)
|
|
|
NM_002206.3(ITGA7):c.987C>T (p.Leu329=)
|
|
|
NM_002206.3(ITGA7):c.996T>C (p.Asp332=)
|
rs2136035925
|
|
NM_002206.3(ITGA7):c.998+19G>A
|
|
|
NM_002206.3(ITGA7):c.998+4A>G
|
|
|
NM_002206.3(ITGA7):c.998+5G>T
|
rs931442936
|
|
NM_002206.3(ITGA7):c.998+9G>C
|
rs2136035855
|
|
NM_003193.5(TBCE):c.*1584G>C
|
rs1572474537
|
|
NM_003863.3(DPM2):c.-267T>C
|
rs1831540551
|
|
NM_003863.3(DPM2):c.-319G>A
|
rs886063486
|
|
NM_003863.3(DPM2):c.-84G>A
|
rs1831537719
|
|
NM_003863.4(DPM2):c.*124G>C
|
rs1831491179
|
|
NM_003863.4(DPM2):c.*231C>T
|
rs1831489245
|
|
NM_003863.4(DPM2):c.*404C>T
|
rs1245531633
|
|
NM_003863.4(DPM2):c.*49G>T
|
rs886063481
|
|
NM_003863.4(DPM2):c.*510A>G
|
rs1831485679
|
|
NM_003863.4(DPM2):c.100A>G (p.Ile34Val)
|
|
|
NM_003863.4(DPM2):c.108_111del (p.Gln37fs)
|
rs756881158
|
|
NM_003863.4(DPM2):c.109C>T (p.Gln37Ter)
|
|
|
NM_003863.4(DPM2):c.120C>T (p.Ile40=)
|
rs1588689780
|
|
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)
|
rs549450795
|
|
NM_003863.4(DPM2):c.151G>A (p.Val51Ile)
|
rs1831509385
|
|
NM_003863.4(DPM2):c.153C>A (p.Val51=)
|
|
|
NM_003863.4(DPM2):c.166_167delinsTT (p.Ala56Phe)
|
rs2131648142
|
|
NM_003863.4(DPM2):c.16G>A (p.Asp6Asn)
|
rs1564141716
|
|
NM_003863.4(DPM2):c.173G>A (p.Gly58Asp)
|
rs1185338798
|
|
NM_003863.4(DPM2):c.178C>T (p.Leu60=)
|
rs2131648105
|
|
NM_003863.4(DPM2):c.180G>A (p.Leu60=)
|
rs2131648100
|
|
NM_003863.4(DPM2):c.196+12C>T
|
|
|
NM_003863.4(DPM2):c.196+13C>T
|
|
|
NM_003863.4(DPM2):c.196+18C>G
|
|
|
NM_003863.4(DPM2):c.196+19C>T
|
rs769003503
|
|
NM_003863.4(DPM2):c.196+20C>T
|
|
|
NM_003863.4(DPM2):c.197G>A (p.Gly66Glu)
|
|
|
NM_003863.4(DPM2):c.208T>C (p.Ser70Pro)
|
rs759597928
|
|
NM_003863.4(DPM2):c.212A>G (p.Tyr71Cys)
|
|
|
NM_003863.4(DPM2):c.212_213delinsGC (p.Tyr71Cys)
|
rs1588689182
|
|
NM_003863.4(DPM2):c.213_214inv (p.Val72Met)
|
|
|
NM_003863.4(DPM2):c.229A>G (p.Lys77Glu)
|
rs1831494309
|
|
NM_003863.4(DPM2):c.237G>A (p.Val79=)
|
|
|
NM_003863.4(DPM2):c.27G>C (p.Val9=)
|
|
|
NM_003863.4(DPM2):c.29del (p.Gly10fs)
|
|
|
NM_003863.4(DPM2):c.3+12A>T
|
|
|
NM_003863.4(DPM2):c.3+14C>T
|
|
|
NM_003863.4(DPM2):c.3+15G>T
|
|
|
NM_003863.4(DPM2):c.3+16T>C
|
|
|
NM_003863.4(DPM2):c.3+3G>A
|
rs1403906360
|
|
NM_003863.4(DPM2):c.3+3G>T
|
rs1403906360
|
|
NM_003863.4(DPM2):c.35G>A (p.Gly12Asp)
|
rs1224529806
|
|
NM_003863.4(DPM2):c.37del (p.Leu13fs)
|
rs1349389319
|
|
NM_003863.4(DPM2):c.39C>T (p.Leu13=)
|
rs757467123
|
|
NM_003863.4(DPM2):c.4-18G>C
|
|
|
NM_003863.4(DPM2):c.4-1G>C
|
rs797044467
|
|
NM_003863.4(DPM2):c.65C>T (p.Thr22Ile)
|
|
|
NM_003863.4(DPM2):c.66C>A (p.Thr22=)
|
rs532790675
|
|
NM_003863.4(DPM2):c.66C>G (p.Thr22=)
|
rs532790675
|
|
NM_003863.4(DPM2):c.68A>G (p.Tyr23Cys)
|
rs397514503
|
|
NM_003863.4(DPM2):c.88C>G (p.Leu30Val)
|
rs886063483
|
|
NM_003863.4(DPM2):c.8C>T (p.Thr3Met)
|
|
|
NM_003863.4(DPM2):c.93+14C>T
|
rs1831525625
|
|
NM_003863.4(DPM2):c.93+17G>A
|
|
|
NM_003863.4(DPM2):c.93+17G>C
|
|
|
NM_003863.4(DPM2):c.93+5G>A
|
|
|
NM_003863.4(DPM2):c.94-11C>T
|
|
|
NM_003863.4(DPM2):c.94-14del
|
rs760202275
|
|
NM_003863.4(DPM2):c.94-18C>G
|
rs577196007
|
|
NM_003863.4(DPM2):c.94-19G>C
|
|
|
NM_003863.4(DPM2):c.94-19G>T
|
|
|
NM_003863.4(DPM2):c.94-4C>T
|
rs1588689814
|
|
NM_004369.3(COL6A3):c.[6064-5G>A];[6859delC]
|
|
|
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.120A>G (p.Ile40Met)
|
|
|
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.1393C>T (p.Arg465Ter)
|
rs121434554
|
|
NM_004369.4(COL6A3):c.141T>C (p.Ser47=)
|
rs2078403487
|
|
NM_004369.4(COL6A3):c.1422G>T (p.Arg474Ser)
|
rs2106370324
|
|
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.1840C>T (p.Gln614Ter)
|
rs1574724863
|
|
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.269A>T (p.Glu90Val)
|
rs2078397283
|
|
NM_004369.4(COL6A3):c.2707G>A (p.Val903Met)
|
rs890279367
|
|
NM_004369.4(COL6A3):c.2717T>A (p.Met906Lys)
|
rs2077868316
|
|
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.3475G>C (p.Gly1159Arg)
|
rs146313030
|
|
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.403G>A (p.Gly135Arg)
|
|
|
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.4070T>G (p.Val1357Gly)
|
rs1480888719
|
|
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.4496T>G (p.Val1499Gly)
|
|
|
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.4532G>C (p.Gly1511Ala)
|
|
|
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.4950_4963del (p.Arg1651fs)
|
|
|
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.5146C>T (p.His1716Tyr)
|
|
|
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.5177T>G (p.Leu1726Arg)
|
rs121434555
|
|
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.6156+1_6156+2delinsTC
|
|
|
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.6157-1G>A
|
|
|
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+5G>A
|
rs886044593
|
|
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.6215_6225del (p.Glu2072fs)
|
rs1574976615
|
|
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.6238G>T (p.Gly2080Cys)
|
|
|
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.6280A>C (p.Lys2094Gln)
|
rs2106342223
|
|
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.6283-28A>G
|
|
|
NM_004369.4(COL6A3):c.6283-2A>C
|
rs797044988
|
|
NM_004369.4(COL6A3):c.6283-2A>G
|
rs797044988
|
|
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>G
|
rs1553553327
|
|
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.6320_6322del (p.Gly2107del)
|
rs1559225974
|
|
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.6424C>T (p.Arg2142Ter)
|
|
|
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.6460C>T (p.Arg2154Ter)
|
|
|
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.6787C>T (p.Arg2263Ter)
|
rs748966916
|
|
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.6967G>A (p.Gly2323Ser)
|
|
|
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.7321C>T (p.Arg2441Trp)
|
|
|
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.7382del (p.Ala2461fs)
|
rs2106324972
|
|
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.7669-2del
|
rs764193290
|
|
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.7720del (p.Leu2574fs)
|
rs1574942920
|
|
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.7975C>T (p.Gln2659Ter)
|
rs2076974450
|
|
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.8074del (p.Tyr2692fs)
|
rs2106319784
|
|
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.8481del (p.Leu2828fs)
|
rs2106317762
|
|
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.9047dup (p.Pro3017fs)
|
|
|
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.9175del (p.Val3059fs)
|
|
|
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.9477A>C (p.Glu3159Asp)
|
|
|
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.1109C>T (p.Pro370Leu)
|
|
|
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.1232C>A (p.Thr411Lys)
|
rs2149467046
|
|
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.1488dup (p.Phe497fs)
|
rs1582196903
|
|
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.1952_1966delinsTAA (p.Asn651_Gly656delinsIleArg)
|
|
|
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.2252T>G (p.Leu751Ter)
|
|
|
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.2426C>T (p.Ala809Val)
|
|
|
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.2594C>G (p.Thr865Arg)
|
|
|
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.3812A>G (p.Tyr1271Cys)
|
|
|
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.4602C>T (p.Asp1534=)
|
rs1767127938
|
|
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.5765G>A (p.Gly1922Glu)
|
rs1766404539
|
|
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.6778A>G (p.Thr2260Ala)
|
rs1765885022
|
|
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.7124A>T (p.Glu2375Val)
|
rs2149366807
|
|
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.7229T>C (p.Ile2410Thr)
|
rs1769231502
|
|
NM_004370.6(COL12A1):c.7230C>T (p.Ile2410=)
|
rs2149366384
|
|
NM_004370.6(COL12A1):c.7232A>G (p.Lys2411Arg)
|
|
|
NM_004370.6(COL12A1):c.7240G>T (p.Val2414Phe)
|
rs2149366348
|
|
NM_004370.6(COL12A1):c.7255A>G (p.Ser2419Gly)
|
|
|
NM_004370.6(COL12A1):c.7258G>A (p.Gly2420Ser)
|
rs1290886066
|
|
NM_004370.6(COL12A1):c.7261A>G (p.Met2421Val)
|
rs910431488
|
|
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.7288G>T (p.Val2430Phe)
|
|
|
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.748G>A (p.Asp250Asn)
|
|
|
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.756dup (p.Ser253fs)
|
rs1582208315
|
|
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.7697+1G>C
|
|
|
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>A (p.Gly2628Asp)
|
|
|
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.8132G>A (p.Ser2711Asn)
|
rs1768550579
|
|
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.8235C>G (p.Ser2745Arg)
|
|
|
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.8258G>A (p.Gly2753Asp)
|
rs1768488927
|
|
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.8319+1G>T
|
|
|
NM_004370.6(COL12A1):c.8319+5G>A
|
|
|
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.8329G>C (p.Gly2777Arg)
|
|
|
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.8357G>A (p.Gly2786Asp)
|
rs796052094
|
|
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+1G>A
|
|
|
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+2T>C
|
|
|
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_004393.6(DAG1):c.1005del (p.Ser336fs)
|
rs2107932056
|
|
NM_004393.6(DAG1):c.1007C>T (p.Ser336Phe)
|
|
|
NM_004393.6(DAG1):c.1026C>T (p.Pro342=)
|
rs1553652858
|
|
NM_004393.6(DAG1):c.1028C>T (p.Thr343Ile)
|
|
|
NM_004393.6(DAG1):c.1032T>A (p.Ser344=)
|
|
|
NM_004393.6(DAG1):c.1040T>C (p.Ile347Thr)
|
|
|
NM_004393.6(DAG1):c.1074C>A (p.Val358=)
|
rs2051347866
|
|
NM_004393.6(DAG1):c.1075A>G (p.Arg359Gly)
|
rs2051347944
|
|
NM_004393.6(DAG1):c.1081C>T (p.Pro361Ser)
|
rs1248397261
|
|
NM_004393.6(DAG1):c.1083T>C (p.Pro361=)
|
|
|
NM_004393.6(DAG1):c.1087C>G (p.Pro363Ala)
|
|
|
NM_004393.6(DAG1):c.108A>C (p.Ser36=)
|
rs1289056506
|
|
NM_004393.6(DAG1):c.1097C>T (p.Pro366Leu)
|
|
|
NM_004393.6(DAG1):c.1105A>G (p.Thr369Ala)
|
rs1553652891
|
|
NM_004393.6(DAG1):c.1106C>G (p.Thr369Ser)
|
rs780709869
|
|
NM_004393.6(DAG1):c.1122C>T (p.Gly374=)
|
rs139993618
|
|
NM_004393.6(DAG1):c.1150C>T (p.Pro384Ser)
|
rs2107934008
|
|
NM_004393.6(DAG1):c.1165C>T (p.Arg389Trp)
|
|
|
NM_004393.6(DAG1):c.1185C>T (p.Thr395=)
|
|
|
NM_004393.6(DAG1):c.1205G>A (p.Arg402His)
|
rs537829489
|
|
NM_004393.6(DAG1):c.1211C>T (p.Thr404Met)
|
|
|
NM_004393.6(DAG1):c.1218C>A (p.Thr406=)
|
rs1290739352
|
|
NM_004393.6(DAG1):c.1223C>T (p.Pro408Leu)
|
rs2051353290
|
|
NM_004393.6(DAG1):c.1224T>C (p.Pro408=)
|
|
|
NM_004393.6(DAG1):c.1226G>T (p.Gly409Val)
|
|
|
NM_004393.6(DAG1):c.1236G>A (p.Glu412=)
|
rs760924685
|
|
NM_004393.6(DAG1):c.1236G>T (p.Glu412Asp)
|
rs760924685
|
|
NM_004393.6(DAG1):c.123C>G (p.Asp41Glu)
|
rs2050738548
|
|
NM_004393.6(DAG1):c.1251T>C (p.Ala417=)
|
rs2107935604
|
|
NM_004393.6(DAG1):c.1255C>T (p.Pro419Ser)
|
rs1263472474
|
|
NM_004393.6(DAG1):c.126G>C (p.Trp42Cys)
|
rs2050738653
|
|
NM_004393.6(DAG1):c.1300C>T (p.Pro434Ser)
|
rs2051356312
|
|
NM_004393.6(DAG1):c.1317T>C (p.Thr439=)
|
|
|
NM_004393.6(DAG1):c.1323C>T (p.Ser441=)
|
rs2051357458
|
|
NM_004393.6(DAG1):c.1323CAC[3] (p.Thr446del)
|
rs778752288
|
|
NM_004393.6(DAG1):c.1324A>T (p.Thr442Ser)
|
|
|
NM_004393.6(DAG1):c.1326C>T (p.Thr442=)
|
|
|
NM_004393.6(DAG1):c.1329C>A (p.Thr443=)
|
|
|
NM_004393.6(DAG1):c.1329C>T (p.Thr443=)
|
|
|
NM_004393.6(DAG1):c.1331C>T (p.Thr444Ile)
|
|
|
NM_004393.6(DAG1):c.1334C>T (p.Thr445Met)
|
|
|
NM_004393.6(DAG1):c.1345C>T (p.Pro449Ser)
|
|
|
NM_004393.6(DAG1):c.1360del (p.Arg454fs)
|
rs2051359062
|
|
NM_004393.6(DAG1):c.1362G>A (p.Arg454=)
|
|
|
NM_004393.6(DAG1):c.1370G>T (p.Arg457Leu)
|
|
|
NM_004393.6(DAG1):c.1381C>A (p.Arg461=)
|
|
|
NM_004393.6(DAG1):c.1381C>T (p.Arg461Trp)
|
|
|
NM_004393.6(DAG1):c.1389C>T (p.Thr463=)
|
|
|
NM_004393.6(DAG1):c.1392C>G (p.Thr464=)
|
|
|
NM_004393.6(DAG1):c.1399T>C (p.Ser467Pro)
|
rs773540166
|
|
NM_004393.6(DAG1):c.1402A>G (p.Ile468Val)
|
|
|
NM_004393.6(DAG1):c.1410A>T (p.Arg470Ser)
|
|
|
NM_004393.6(DAG1):c.1423_1424insTT (p.Ser475fs)
|
|
|
NM_004393.6(DAG1):c.1444A>G (p.Thr482Ala)
|
|
|
NM_004393.6(DAG1):c.1452C>A (p.Thr484=)
|
rs2051362724
|
|
NM_004393.6(DAG1):c.1453_1454insC (p.Ser485fs)
|
rs2107938946
|
|
NM_004393.6(DAG1):c.1455T>A (p.Ser485Arg)
|
|
|
NM_004393.6(DAG1):c.1462C>G (p.Pro488Ala)
|
rs755443084
|
|
NM_004393.6(DAG1):c.1465del (p.Arg489fs)
|
rs2107939163
|
|
NM_004393.6(DAG1):c.1479C>T (p.Pro493=)
|
|
|
NM_004393.6(DAG1):c.147C>T (p.Ser49=)
|
|
|
NM_004393.6(DAG1):c.1487G>T (p.Arg496Leu)
|
rs199519832
|
|
NM_004393.6(DAG1):c.1489C>G (p.Pro497Ala)
|
rs376508721
|
|
NM_004393.6(DAG1):c.1492_1494del (p.Glu498del)
|
rs1553653093
|
|
NM_004393.6(DAG1):c.14T>G (p.Val5Gly)
|
|
|
NM_004393.6(DAG1):c.1508T>C (p.Ile503Thr)
|
|
|
NM_004393.6(DAG1):c.1532G>A (p.Gly511Asp)
|
rs775568320
|
|
NM_004393.6(DAG1):c.153C>G (p.His51Gln)
|
rs1329844909
|
|
NM_004393.6(DAG1):c.1545G>A (p.Glu515=)
|
|
|
NM_004393.6(DAG1):c.1557G>A (p.Pro519=)
|
rs201897321
|
|
NM_004393.6(DAG1):c.1569C>G (p.Phe523Leu)
|
rs1240708570
|
|
NM_004393.6(DAG1):c.1569C>T (p.Phe523=)
|
|
|
NM_004393.6(DAG1):c.1596C>T (p.Asp532=)
|
|
|
NM_004393.6(DAG1):c.1599G>A (p.Lys533=)
|
|
|
NM_004393.6(DAG1):c.15G>A (p.Val5=)
|
rs1405959055
|
|
NM_004393.6(DAG1):c.160C>G (p.Leu54Val)
|
|
|
NM_004393.6(DAG1):c.1610C>T (p.Thr537Ile)
|
|
|
NM_004393.6(DAG1):c.1618C>G (p.Leu540Val)
|
|
|
NM_004393.6(DAG1):c.162C>G (p.Leu54=)
|
rs371638777
|
|
NM_004393.6(DAG1):c.1639G>C (p.Gly547Arg)
|
|
|
NM_004393.6(DAG1):c.1656A>G (p.Val552=)
|
rs2051369610
|
|
NM_004393.6(DAG1):c.1662C>T (p.Phe554=)
|
rs2051369866
|
|
NM_004393.6(DAG1):c.1673G>T (p.Ser558Ile)
|
|
|
NM_004393.6(DAG1):c.1677G>A (p.Gln559=)
|
|
|
NM_004393.6(DAG1):c.1681A>G (p.Met561Val)
|
|
|
NM_004393.6(DAG1):c.1688G>A (p.Gly563Asp)
|
rs2107942332
|
|
NM_004393.6(DAG1):c.1690C>T (p.Leu564Phe)
|
|
|
NM_004393.6(DAG1):c.1705C>T (p.His569Tyr)
|
rs1559579950
|
|
NM_004393.6(DAG1):c.1715A>C (p.Lys572Thr)
|
rs374936878
|
|
NM_004393.6(DAG1):c.1729A>G (p.Met577Val)
|
|
|
NM_004393.6(DAG1):c.173A>T (p.His58Leu)
|
rs956626990
|
|
NM_004393.6(DAG1):c.1745A>G (p.Lys582Arg)
|
|
|
NM_004393.6(DAG1):c.1750_1751delinsT (p.Gly584fs)
|
rs2051374109
|
|
NM_004393.6(DAG1):c.175G>A (p.Glu59Lys)
|
rs767737417
|
|
NM_004393.6(DAG1):c.175G>T (p.Glu59Ter)
|
rs767737417
|
|
NM_004393.6(DAG1):c.1783G>A (p.Val595Ile)
|
|
|
NM_004393.6(DAG1):c.1795C>T (p.Pro599Ser)
|
rs2051376280
|
|
NM_004393.6(DAG1):c.1800A>T (p.Gln600His)
|
rs755173858
|
|
NM_004393.6(DAG1):c.1801G>C (p.Gly601Arg)
|
|
|
NM_004393.6(DAG1):c.1804G>A (p.Asp602Asn)
|
rs1447621250
|
|
NM_004393.6(DAG1):c.1812T>A (p.Ala604=)
|
rs2107944571
|
|
NM_004393.6(DAG1):c.1813C>G (p.Pro605Ala)
|
rs866228869
|
|
NM_004393.6(DAG1):c.1815T>C (p.Pro605=)
|
|
|
NM_004393.6(DAG1):c.1817C>T (p.Ala606Val)
|
|
|
NM_004393.6(DAG1):c.181G>A (p.Val61Ile)
|
rs2107648206
|
|
NM_004393.6(DAG1):c.1824C>T (p.Phe608=)
|
|
|
NM_004393.6(DAG1):c.1826A>G (p.Lys609Arg)
|
rs200798800
|
|
NM_004393.6(DAG1):c.1833G>A (p.Lys611=)
|
|
|
NM_004393.6(DAG1):c.1837G>T (p.Val613Leu)
|
|
|
NM_004393.6(DAG1):c.1839G>T (p.Val613=)
|
rs1247864796
|
|
NM_004393.6(DAG1):c.1842T>A (p.Gly614=)
|
|
|
NM_004393.6(DAG1):c.1874A>G (p.Lys625Arg)
|
|
|
NM_004393.6(DAG1):c.1874AGA[1] (p.Lys626del)
|
rs745350022
|
|
NM_004393.6(DAG1):c.1882G>T (p.Ala628Ser)
|
|
|
NM_004393.6(DAG1):c.1883_1887delinsACTTT (p.Ala628_Leu629delinsAspPhe)
|
rs1559580384
|
|
NM_004393.6(DAG1):c.1895A>C (p.Lys632Thr)
|
|
|
NM_004393.6(DAG1):c.1908C>T (p.Ala636=)
|
|
|
NM_004393.6(DAG1):c.1911del (p.Phe637fs)
|
rs2107946182
|
|
NM_004393.6(DAG1):c.1915G>C (p.Asp639His)
|
rs2107946219
|
|
NM_004393.6(DAG1):c.1918C>G (p.Arg640Gly)
|
rs1404065812
|
|
NM_004393.6(DAG1):c.1918C>T (p.Arg640Ter)
|
|
|
NM_004393.6(DAG1):c.1925G>A (p.Cys642Tyr)
|
rs1559580460
|
|
NM_004393.6(DAG1):c.1955G>T (p.Arg652Leu)
|
rs368810294
|
|
NM_004393.6(DAG1):c.1969G>C (p.Val657Leu)
|
rs2107947164
|
|
NM_004393.6(DAG1):c.1977G>A (p.Trp659Ter)
|
rs1553653437
|
|
NM_004393.6(DAG1):c.1981A>G (p.Asn661Asp)
|
|
|
NM_004393.6(DAG1):c.1982_1983delinsTT (p.Asn661Ile)
|
rs2051384851
|
|
NM_004393.6(DAG1):c.1992G>A (p.Leu664=)
|
rs2107947638
|
|
NM_004393.6(DAG1):c.1999G>A (p.Glu667Lys)
|
|
|
NM_004393.6(DAG1):c.2001G>T (p.Glu667Asp)
|
rs767648246
|
|
NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe)
|
rs797045023
|
|
NM_004393.6(DAG1):c.2010C>T (p.Pro670=)
|
|
|
NM_004393.6(DAG1):c.2011A>T (p.Lys671Ter)
|
rs2107948146
|
|
NM_004393.6(DAG1):c.2018A>C (p.Gln673Pro)
|
rs1433049354
|
|
NM_004393.6(DAG1):c.2018A>G (p.Gln673Arg)
|
|
|
NM_004393.6(DAG1):c.2031G>T (p.Leu677=)
|
|
|
NM_004393.6(DAG1):c.2043C>T (p.Ile681=)
|
rs543326525
|
|
NM_004393.6(DAG1):c.2051A>G (p.Asp684Gly)
|
rs2051388402
|
|
NM_004393.6(DAG1):c.2068C>T (p.Pro690Ser)
|
rs2107949142
|
|
NM_004393.6(DAG1):c.2072C>T (p.Ala691Val)
|
|
|
NM_004393.6(DAG1):c.2081A>G (p.Asn694Ser)
|
|
|
NM_004393.6(DAG1):c.2100T>G (p.Phe700Leu)
|
rs141697036
|
|
NM_004393.6(DAG1):c.210C>T (p.Gly70=)
|
rs2107648464
|
|
NM_004393.6(DAG1):c.2116A>C (p.Thr706Pro)
|
rs138386617
|
|
NM_004393.6(DAG1):c.2124G>A (p.Thr708=)
|
rs140204495
|
|
NM_004393.6(DAG1):c.2124G>C (p.Thr708=)
|
rs140204495
|
|
NM_004393.6(DAG1):c.2124_2127del (p.Gly709fs)
|
|
|
NM_004393.6(DAG1):c.212C>A (p.Thr71Lys)
|
rs142572135
|
|
NM_004393.6(DAG1):c.2141G>A (p.Arg714Gln)
|
rs201488118
|
|
NM_004393.6(DAG1):c.2141G>T (p.Arg714Leu)
|
rs201488118
|
|
NM_004393.6(DAG1):c.2155A>G (p.Ile719Val)
|
|
|
NM_004393.6(DAG1):c.2161G>A (p.Val721Met)
|
|
|
NM_004393.6(DAG1):c.216T>C (p.Ala72=)
|
|
|
NM_004393.6(DAG1):c.2170C>A (p.Pro724Thr)
|
|
|
NM_004393.6(DAG1):c.2170C>T (p.Pro724Ser)
|
|
|
NM_004393.6(DAG1):c.2181G>T (p.Val727=)
|
|
|
NM_004393.6(DAG1):c.2184C>T (p.Pro728=)
|
rs1553653579
|
|
NM_004393.6(DAG1):c.2194C>A (p.Pro732Thr)
|
rs1406481422
|
|
NM_004393.6(DAG1):c.2200A>G (p.Thr734Ala)
|
|
|
NM_004393.6(DAG1):c.2201C>T (p.Thr734Ile)
|
|
|
NM_004393.6(DAG1):c.2205A>C (p.Glu735Asp)
|
|
|
NM_004393.6(DAG1):c.2206G>A (p.Val736Met)
|
|
|
NM_004393.6(DAG1):c.2207T>G (p.Val736Gly)
|
|
|
NM_004393.6(DAG1):c.2215_2216del (p.Arg739fs)
|
rs2107952051
|
|
NM_004393.6(DAG1):c.2221C>T (p.Pro741Ser)
|
|
|
NM_004393.6(DAG1):c.2245G>A (p.Val749Ile)
|
rs1559581311
|
|
NM_004393.6(DAG1):c.2251C>T (p.Leu751=)
|
rs1553653673
|
|
NM_004393.6(DAG1):c.2268G>A (p.Pro756=)
|
|
|
NM_004393.6(DAG1):c.2280C>T (p.Val760=)
|
|
|
NM_004393.6(DAG1):c.2293C>A (p.Leu765Ile)
|
rs905804433
|
|
NM_004393.6(DAG1):c.2294T>C (p.Leu765Pro)
|
rs2107953423
|
|
NM_004393.6(DAG1):c.2295C>T (p.Leu765=)
|
|
|
NM_004393.6(DAG1):c.2303G>T (p.Gly768Val)
|
rs1553653701
|
|
NM_004393.6(DAG1):c.2315dup (p.Met772fs)
|
rs2107953983
|
|
NM_004393.6(DAG1):c.2327G>A (p.Arg776His)
|
rs753991804
|
|
NM_004393.6(DAG1):c.2330A>G (p.Lys777Arg)
|
rs2107954269
|
|
NM_004393.6(DAG1):c.2342G>A (p.Gly781Asp)
|
rs1223724355
|
|
NM_004393.6(DAG1):c.2352C>T (p.Thr784=)
|
rs553722437
|
|
NM_004393.6(DAG1):c.235C>T (p.Arg79Ter)
|
rs1334656238
|
|
NM_004393.6(DAG1):c.237A>G (p.Arg79=)
|
|
|
NM_004393.6(DAG1):c.2382G>A (p.Lys794=)
|
rs2107954873
|
|
NM_004393.6(DAG1):c.2388G>A (p.Val796=)
|
rs542910395
|
|
NM_004393.6(DAG1):c.2420C>T (p.Ser807Phe)
|
|
|
NM_004393.6(DAG1):c.2429C>A (p.Pro810Gln)
|
|
|
NM_004393.6(DAG1):c.2433C>T (p.Pro811=)
|
|
|
NM_004393.6(DAG1):c.2439C>T (p.Ser813=)
|
|
|
NM_004393.6(DAG1):c.2451C>T (p.Leu817=)
|
rs886042761
|
|
NM_004393.6(DAG1):c.2475C>T (p.Pro825=)
|
|
|
NM_004393.6(DAG1):c.2478A>G (p.Leu826=)
|
|
|
NM_004393.6(DAG1):c.2480C>G (p.Pro827Arg)
|
|
|
NM_004393.6(DAG1):c.2481C>G (p.Pro827=)
|
rs1328445862
|
|
NM_004393.6(DAG1):c.2482C>A (p.Pro828Thr)
|
rs755251035
|
|
NM_004393.6(DAG1):c.2493C>T (p.Tyr831=)
|
rs1334041253
|
|
NM_004393.6(DAG1):c.24G>A (p.Ser8=)
|
rs1229832209
|
|
NM_004393.6(DAG1):c.2503A>T (p.Ser835Cys)
|
|
|
NM_004393.6(DAG1):c.2503_2504del (p.Ser835fs)
|
rs2107957043
|
|
NM_004393.6(DAG1):c.2512G>A (p.Glu838Lys)
|
rs745846165
|
|
NM_004393.6(DAG1):c.2546A>T (p.Glu849Val)
|
rs865854417
|
|
NM_004393.6(DAG1):c.2555C>T (p.Pro852Leu)
|
rs764827670
|
|
NM_004393.6(DAG1):c.2561G>A (p.Arg854Gln)
|
rs199933395
|
|
NM_004393.6(DAG1):c.2598A>G (p.Pro866=)
|
|
|
NM_004393.6(DAG1):c.2612C>T (p.Ala871Val)
|
|
|
NM_004393.6(DAG1):c.2632T>C (p.Ser878Pro)
|
rs776376235
|
|
NM_004393.6(DAG1):c.2645A>G (p.Asn882Ser)
|
rs2107959641
|
|
NM_004393.6(DAG1):c.264C>T (p.Ala88=)
|
rs765191278
|
|
NM_004393.6(DAG1):c.2661G>T (p.Arg887=)
|
rs1575414764
|
|
NM_004393.6(DAG1):c.2675A>G (p.Tyr892Cys)
|
rs1394689956
|
|
NM_004393.6(DAG1):c.2679C>T (p.Val893=)
|
|
|
NM_004393.6(DAG1):c.268A>G (p.Ser90Gly)
|
rs140454570
|
|
NM_004393.6(DAG1):c.271G>A (p.Gly91Arg)
|
rs1193999215
|
|
NM_004393.6(DAG1):c.272G>A (p.Gly91Glu)
|
rs766324183
|
|
NM_004393.6(DAG1):c.285+1G>A
|
rs2050744878
|
|
NM_004393.6(DAG1):c.285+7C>T
|
|
|
NM_004393.6(DAG1):c.286-1_287del
|
|
|
NM_004393.6(DAG1):c.286-4del
|
|
|
NM_004393.6(DAG1):c.286-9C>T
|
rs2107922008
|
|
NM_004393.6(DAG1):c.294G>T (p.Ala98=)
|
|
|
NM_004393.6(DAG1):c.317C>T (p.Ser106Phe)
|
rs969302268
|
|
NM_004393.6(DAG1):c.32T>C (p.Leu11Pro)
|
|
|
NM_004393.6(DAG1):c.330G>A (p.Trp110Ter)
|
rs2051320206
|
|
NM_004393.6(DAG1):c.333C>T (p.Asp111=)
|
rs1221719616
|
|
NM_004393.6(DAG1):c.372T>C (p.Thr124=)
|
rs555051245
|
|
NM_004393.6(DAG1):c.384G>A (p.Val128=)
|
rs143829263
|
|
NM_004393.6(DAG1):c.384G>T (p.Val128=)
|
rs143829263
|
|
NM_004393.6(DAG1):c.385C>T (p.His129Tyr)
|
rs763108184
|
|
NM_004393.6(DAG1):c.396A>C (p.Ser132=)
|
rs1575410151
|
|
NM_004393.6(DAG1):c.39C>T (p.Leu13=)
|
rs62261246
|
|
NM_004393.6(DAG1):c.409C>T (p.Arg137Trp)
|
rs374440411
|
|
NM_004393.6(DAG1):c.41C>A (p.Ser14Ter)
|
rs2131107
|
|
NM_004393.6(DAG1):c.420C>T (p.Ala140=)
|
|
|
NM_004393.6(DAG1):c.42G>C (p.Ser14=)
|
rs770996993
|
|
NM_004393.6(DAG1):c.435C>T (p.Ile145=)
|
|
|
NM_004393.6(DAG1):c.43G>T (p.Gly15Trp)
|
rs2107646938
|
|
NM_004393.6(DAG1):c.440del (p.Gln147fs)
|
rs1553652503
|
|
NM_004393.6(DAG1):c.442A>T (p.Thr148Ser)
|
rs1297914937
|
|
NM_004393.6(DAG1):c.454_467del (p.Phe152fs)
|
rs1553652513
|
|
NM_004393.6(DAG1):c.459C>T (p.Ser153=)
|
rs2107924634
|
|
NM_004393.6(DAG1):c.462C>G (p.Ile154Met)
|
|
|
NM_004393.6(DAG1):c.462C>T (p.Ile154=)
|
|
|
NM_004393.6(DAG1):c.463G>A (p.Glu155Lys)
|
|
|
NM_004393.6(DAG1):c.473C>G (p.Pro158Arg)
|
rs368359780
|
|
NM_004393.6(DAG1):c.473C>T (p.Pro158Leu)
|
rs368359780
|
|
NM_004393.6(DAG1):c.479_482dup (p.His161fs)
|
|
|
NM_004393.6(DAG1):c.481C>G (p.His161Asp)
|
rs2051326372
|
|
NM_004393.6(DAG1):c.510C>T (p.Ala170=)
|
rs147153370
|
|
NM_004393.6(DAG1):c.524G>A (p.Gly175Asp)
|
rs757948629
|
|
NM_004393.6(DAG1):c.524G>T (p.Gly175Val)
|
|
|
NM_004393.6(DAG1):c.534A>G (p.Val178=)
|
|
|
NM_004393.6(DAG1):c.551C>T (p.Ala184Val)
|
rs1431924829
|
|
NM_004393.6(DAG1):c.552G>A (p.Ala184=)
|
rs749602970
|
|
NM_004393.6(DAG1):c.552G>C (p.Ala184=)
|
rs749602970
|
|
NM_004393.6(DAG1):c.55C>T (p.Leu19Phe)
|
rs2107647080
|
|
NM_004393.6(DAG1):c.568G>C (p.Val190Leu)
|
|
|
NM_004393.6(DAG1):c.575C>T (p.Thr192Met)
|
rs193922955
|
|
NM_004393.6(DAG1):c.587A>T (p.Asp196Val)
|
rs2107926325
|
|
NM_004393.6(DAG1):c.59T>A (p.Leu20His)
|
|
|
NM_004393.6(DAG1):c.5G>A (p.Arg2Lys)
|
|
|
NM_004393.6(DAG1):c.5G>C (p.Arg2Thr)
|
|
|
NM_004393.6(DAG1):c.608C>T (p.Thr203Ile)
|
rs2107926551
|
|
NM_004393.6(DAG1):c.624T>C (p.Ile208=)
|
rs2107926759
|
|
NM_004393.6(DAG1):c.636C>T (p.His212=)
|
rs765923041
|
|
NM_004393.6(DAG1):c.63G>T (p.Leu21=)
|
rs776146096
|
|
NM_004393.6(DAG1):c.645G>A (p.Arg215=)
|
rs2107927047
|
|
NM_004393.6(DAG1):c.658G>C (p.Val220Leu)
|
rs2107927146
|
|
NM_004393.6(DAG1):c.686C>T (p.Pro229Leu)
|
|
|
NM_004393.6(DAG1):c.691G>T (p.Val231Leu)
|
rs2051333513
|
|
NM_004393.6(DAG1):c.716C>T (p.Ser239Leu)
|
|
|
NM_004393.6(DAG1):c.721_722del (p.Phe241fs)
|
|
|
NM_004393.6(DAG1):c.727G>A (p.Ala243Thr)
|
rs2051334627
|
|
NM_004393.6(DAG1):c.734C>T (p.Pro245Leu)
|
rs780960166
|
|
NM_004393.6(DAG1):c.743del (p.Ala248fs)
|
rs869320680
|
|
NM_004393.6(DAG1):c.751del (p.Val251fs)
|
rs1575410881
|
|
NM_004393.6(DAG1):c.751dup (p.Val251fs)
|
rs1575410881
|
|
NM_004393.6(DAG1):c.777C>T (p.Ser259=)
|
|
|
NM_004393.6(DAG1):c.781A>G (p.Lys261Glu)
|
rs2107928548
|
|
NM_004393.6(DAG1):c.786G>A (p.Leu262=)
|
rs2051336967
|
|
NM_004393.6(DAG1):c.810T>C (p.Ser270=)
|
|
|
NM_004393.6(DAG1):c.815C>G (p.Pro272Arg)
|
rs371509534
|
|
NM_004393.6(DAG1):c.827G>T (p.Gly276Val)
|
|
|
NM_004393.6(DAG1):c.838C>A (p.Pro280Thr)
|
rs908394465
|
|
NM_004393.6(DAG1):c.838C>T (p.Pro280Ser)
|
rs908394465
|
|
NM_004393.6(DAG1):c.843C>G (p.Ala281=)
|
|
|
NM_004393.6(DAG1):c.843C>T (p.Ala281=)
|
|
|
NM_004393.6(DAG1):c.845G>T (p.Arg282Met)
|
|
|
NM_004393.6(DAG1):c.852C>G (p.Gly284=)
|
|
|
NM_004393.6(DAG1):c.854C>T (p.Ala285Val)
|
rs1235865427
|
|
NM_004393.6(DAG1):c.855A>G (p.Ala285=)
|
rs2107929680
|
|
NM_004393.6(DAG1):c.885G>A (p.Val295=)
|
rs1463890255
|
|
NM_004393.6(DAG1):c.889T>A (p.Trp297Arg)
|
|
|
NM_004393.6(DAG1):c.897C>A (p.Ile299=)
|
rs150365056
|
|
NM_004393.6(DAG1):c.909G>C (p.Lys303Asn)
|
rs938467092
|
|
NM_004393.6(DAG1):c.914C>T (p.Pro305Leu)
|
|
|
NM_004393.6(DAG1):c.928G>A (p.Val310Ile)
|
rs755258174
|
|
NM_004393.6(DAG1):c.939del (p.Ile314fs)
|
rs2107931013
|
|
NM_004393.6(DAG1):c.942C>T (p.Ile314=)
|
|
|
NM_004393.6(DAG1):c.944A>G (p.His315Arg)
|
|
|
NM_004393.6(DAG1):c.954_959del (p.317TP[1])
|
rs2107931254
|
|
NM_004393.6(DAG1):c.966T>G (p.Thr322=)
|
|
|
NM_004393.6(DAG1):c.969C>G (p.Ala323=)
|
|
|
NM_004393.6(DAG1):c.971T>C (p.Ile324Thr)
|
|
|
NM_004393.6(DAG1):c.984C>A (p.Thr328=)
|
|
|
NM_004393.6(DAG1):c.98G>T (p.Ser33Ile)
|
|
|
NM_004393.6(DAG1):c.993C>T (p.Ile331=)
|
|
|
NM_005198.5(CHKB):c.-19G>T
|
rs373596637
|
|
NM_005198.5(CHKB):c.1001T>C (p.Leu334Pro)
|
rs780983852
|
|
NM_005198.5(CHKB):c.1003G>T (p.Glu335Ter)
|
rs2146652075
|
|
NM_005198.5(CHKB):c.1005AGA[1] (p.Glu336del)
|
|
|
NM_005198.5(CHKB):c.1012T>G (p.Leu338Val)
|
|
|
NM_005198.5(CHKB):c.1028G>A (p.Ser343Asn)
|
rs1312338081
|
|
NM_005198.5(CHKB):c.1030C>T (p.Arg344Trp)
|
|
|
NM_005198.5(CHKB):c.1031+14G>T
|
|
|
NM_005198.5(CHKB):c.1032-10C>T
|
|
|
NM_005198.5(CHKB):c.1032-20T>C
|
|
|
NM_005198.5(CHKB):c.1032-2A>G
|
rs1555894289
|
|
NM_005198.5(CHKB):c.1032-2A>T
|
|
|
NM_005198.5(CHKB):c.1032-3dup
|
|
|
NM_005198.5(CHKB):c.104G>C (p.Arg35Pro)
|
rs889845523
|
|
NM_005198.5(CHKB):c.1052T>C (p.Phe351Ser)
|
rs2070626951
|
|
NM_005198.5(CHKB):c.1056_1058del (p.Phe352_Trp353delinsLeu)
|
rs2070626704
|
|
NM_005198.5(CHKB):c.1064T>C (p.Leu355Pro)
|
rs2070626510
|
|
NM_005198.5(CHKB):c.106C>T (p.Arg36Trp)
|
rs2070724928
|
|
NM_005198.5(CHKB):c.1080G>A (p.Gln360=)
|
|
|
NM_005198.5(CHKB):c.1085C>T (p.Ser362Phe)
|
rs766753256
|
|
NM_005198.5(CHKB):c.1086C>G (p.Ser362=)
|
|
|
NM_005198.5(CHKB):c.1088T>C (p.Met363Thr)
|
|
|
NM_005198.5(CHKB):c.1107T>G (p.Gly369=)
|
|
|
NM_005198.5(CHKB):c.1114-14G>A
|
rs756289571
|
|
NM_005198.5(CHKB):c.1114-18dup
|
rs2146650367
|
|
NM_005198.5(CHKB):c.1114-3T>G
|
rs886057638
|
|
NM_005198.5(CHKB):c.1121C>T (p.Ala374Val)
|
rs751958642
|
|
NM_005198.5(CHKB):c.1129C>G (p.Arg377Gly)
|
rs766848672
|
|
NM_005198.5(CHKB):c.1129C>T (p.Arg377Trp)
|
rs766848672
|
|
NM_005198.5(CHKB):c.1137G>A (p.Gln379=)
|
rs1446164666
|
|
NM_005198.5(CHKB):c.1157G>A (p.Gly386Glu)
|
|
|
NM_005198.5(CHKB):c.1160A>C (p.Gln387Pro)
|
rs1389494045
|
|
NM_005198.5(CHKB):c.1169G>A (p.Ser390Asn)
|
|
|
NM_005198.5(CHKB):c.116C>A (p.Ser39Ter)
|
rs387907068
|
|
NM_005198.5(CHKB):c.1179C>G (p.Ser393=)
|
|
|
NM_005198.5(CHKB):c.119C>G (p.Ser40Trp)
|
rs1011397890
|
|
NM_005198.5(CHKB):c.119C>T (p.Ser40Leu)
|
rs1011397890
|
|
NM_005198.5(CHKB):c.120G>A (p.Ser40=)
|
rs1367743295
|
|
NM_005198.5(CHKB):c.123G>A (p.Leu41=)
|
rs2070724453
|
|
NM_005198.5(CHKB):c.134C>T (p.Ala45Val)
|
|
|
NM_005198.5(CHKB):c.144A>T (p.Arg48=)
|
rs2070723755
|
|
NM_005198.5(CHKB):c.146C>T (p.Ala49Val)
|
|
|
NM_005198.5(CHKB):c.150C>A (p.Tyr50Ter)
|
|
|
NM_005198.5(CHKB):c.153A>G (p.Gln51=)
|
|
|
NM_005198.5(CHKB):c.155G>T (p.Trp52Leu)
|
rs1207178552
|
|
NM_005198.5(CHKB):c.159C>T (p.Cys53=)
|
rs907132023
|
|
NM_005198.5(CHKB):c.161G>A (p.Arg54Gln)
|
|
|
NM_005198.5(CHKB):c.163G>T (p.Glu55Ter)
|
rs1045370021
|
|
NM_005198.5(CHKB):c.165G>A (p.Glu55=)
|
|
|
NM_005198.5(CHKB):c.176G>C (p.Gly59Ala)
|
|
|
NM_005198.5(CHKB):c.183G>T (p.Trp61Cys)
|
rs1603443790
|
|
NM_005198.5(CHKB):c.187C>T (p.Arg63Ter)
|
|
|
NM_005198.5(CHKB):c.196C>A (p.Pro66Thr)
|
rs141533752
|
|
NM_005198.5(CHKB):c.1A>T (p.Met1Leu)
|
rs1452864281
|
|
NM_005198.5(CHKB):c.212T>C (p.Val71Ala)
|
rs1399285509
|
|
NM_005198.5(CHKB):c.212T>G (p.Val71Gly)
|
rs1399285509
|
|
NM_005198.5(CHKB):c.216C>G (p.Tyr72Ter)
|
rs80067609
|
|
NM_005198.5(CHKB):c.217C>T (p.Pro73Ser)
|
rs864309593
|
|
NM_005198.5(CHKB):c.21T>A (p.Ala7=)
|
|
|
NM_005198.5(CHKB):c.220G>A (p.Val74Met)
|
rs758217425
|
|
NM_005198.5(CHKB):c.220G>C (p.Val74Leu)
|
rs758217425
|
|
NM_005198.5(CHKB):c.222G>C (p.Val74=)
|
rs2146658662
|
|
NM_005198.5(CHKB):c.224+11A>G
|
|
|
NM_005198.5(CHKB):c.224+1G>A
|
|
|
NM_005198.5(CHKB):c.224+20C>G
|
|
|
NM_005198.5(CHKB):c.225-16T>C
|
|
|
NM_005198.5(CHKB):c.225-17C>G
|
|
|
NM_005198.5(CHKB):c.225-1_225delinsTT
|
|
|
NM_005198.5(CHKB):c.227G>A (p.Gly76Glu)
|
|
|
NM_005198.5(CHKB):c.231C>A (p.Gly77=)
|
|
|
NM_005198.5(CHKB):c.240C>T (p.Asn80=)
|
|
|
NM_005198.5(CHKB):c.244C>G (p.Leu82Val)
|
rs1329658058
|
|
NM_005198.5(CHKB):c.255C>T (p.Cys85=)
|
rs1603443779
|
|
NM_005198.5(CHKB):c.260T>C (p.Leu87Pro)
|
rs1177999891
|
|
NM_005198.5(CHKB):c.261C>T (p.Leu87=)
|
rs2146657812
|
|
NM_005198.5(CHKB):c.268del (p.His90fs)
|
rs1569054508
|
|
NM_005198.5(CHKB):c.291G>T (p.Glu97Asp)
|
|
|
NM_005198.5(CHKB):c.292C>T (p.Pro98Ser)
|
rs1307581608
|
|
NM_005198.5(CHKB):c.296_313del (p.Arg99_Arg104del)
|
rs1177835390
|
|
NM_005198.5(CHKB):c.305T>C (p.Leu102Pro)
|
rs2070709347
|
|
NM_005198.5(CHKB):c.306T>A (p.Leu102=)
|
rs1603443777
|
|
NM_005198.5(CHKB):c.323C>T (p.Ala108Val)
|
|
|
NM_005198.5(CHKB):c.331C>T (p.Gln111Ter)
|
|
|
NM_005198.5(CHKB):c.333+13T>C
|
|
|
NM_005198.5(CHKB):c.333+18G>A
|
|
|
NM_005198.5(CHKB):c.333+19C>T
|
|
|
NM_005198.5(CHKB):c.333+9_333+10del
|
rs2146657605
|
|
NM_005198.5(CHKB):c.334-11T>C
|
|
|
NM_005198.5(CHKB):c.334-12A>G
|
|
|
NM_005198.5(CHKB):c.334-17T>C
|
|
|
NM_005198.5(CHKB):c.334-31_334-18del
|
rs1179098662
|
|
NM_005198.5(CHKB):c.336C>T (p.Gly112=)
|
|
|
NM_005198.5(CHKB):c.359G>A (p.Ser120Asn)
|
rs2146656856
|
|
NM_005198.5(CHKB):c.35G>A (p.Gly12Glu)
|
|
|
NM_005198.5(CHKB):c.373A>G (p.Ile125Val)
|
rs756445442
|
|
NM_005198.5(CHKB):c.376C>T (p.Leu126Phe)
|
|
|
NM_005198.5(CHKB):c.382G>T (p.Glu128Ter)
|
rs1569054086
|
|
NM_005198.5(CHKB):c.390G>T (p.Ser130=)
|
rs1299502169
|
|
NM_005198.5(CHKB):c.392T>C (p.Leu131Pro)
|
|
|
NM_005198.5(CHKB):c.400C>T (p.Gln134Ter)
|
rs1333100080
|
|
NM_005198.5(CHKB):c.417C>G (p.Phe139Leu)
|
|
|
NM_005198.5(CHKB):c.428G>C (p.Arg143Pro)
|
rs201257544
|
|
NM_005198.5(CHKB):c.437A>G (p.Gln146Arg)
|
|
|
NM_005198.5(CHKB):c.439T>G (p.Tyr147Asp)
|
rs1603443753
|
|
NM_005198.5(CHKB):c.442A>G (p.Ile148Val)
|
rs2146656696
|
|
NM_005198.5(CHKB):c.444C>A (p.Ile148=)
|
|
|
NM_005198.5(CHKB):c.446del (p.Pro149fs)
|
|
|
NM_005198.5(CHKB):c.447+12G>A
|
rs749454476
|
|
NM_005198.5(CHKB):c.447+12G>C
|
rs749454476
|
|
NM_005198.5(CHKB):c.447+20C>G
|
|
|
NM_005198.5(CHKB):c.447+5G>C
|
rs371067691
|
|
NM_005198.5(CHKB):c.447+9C>G
|
|
|
NM_005198.5(CHKB):c.450T>G (p.Ser150Arg)
|
|
|
NM_005198.5(CHKB):c.452G>C (p.Arg151Pro)
|
|
|
NM_005198.5(CHKB):c.453G>A (p.Arg151=)
|
|
|
NM_005198.5(CHKB):c.458dup (p.Leu153fs)
|
rs786205117
|
|
NM_005198.5(CHKB):c.463del (p.Thr155fs)
|
rs2146656234
|
|
NM_005198.5(CHKB):c.464C>T (p.Thr155Ile)
|
rs950085207
|
|
NM_005198.5(CHKB):c.466C>G (p.Gln156Glu)
|
rs764016359
|
|
NM_005198.5(CHKB):c.468A>G (p.Gln156=)
|
rs2070691030
|
|
NM_005198.5(CHKB):c.475C>A (p.Arg159=)
|
|
|
NM_005198.5(CHKB):c.485T>C (p.Val162Ala)
|
rs1255195125
|
|
NM_005198.5(CHKB):c.493G>C (p.Ala165Pro)
|
|
|
NM_005198.5(CHKB):c.499A>G (p.Ile167Val)
|
rs2146656161
|
|
NM_005198.5(CHKB):c.504C>T (p.Ala168=)
|
|
|
NM_005198.5(CHKB):c.512T>C (p.Met171Thr)
|
rs774685301
|
|
NM_005198.5(CHKB):c.515C>T (p.Ala172Val)
|
|
|
NM_005198.5(CHKB):c.516G>T (p.Ala172=)
|
rs200220080
|
|
NM_005198.5(CHKB):c.519A>G (p.Gln173=)
|
|
|
NM_005198.5(CHKB):c.528C>T (p.Gly176=)
|
|
|
NM_005198.5(CHKB):c.536del (p.Met179fs)
|
|
|
NM_005198.5(CHKB):c.539C>G (p.Pro180Arg)
|
rs757942378
|
|
NM_005198.5(CHKB):c.546C>T (p.Thr182=)
|
|
|
NM_005198.5(CHKB):c.556del (p.His186fs)
|
|
|
NM_005198.5(CHKB):c.55G>C (p.Ala19Pro)
|
rs1317692402
|
|
NM_005198.5(CHKB):c.565_568del (p.Phe189fs)
|
rs752436924
|
|
NM_005198.5(CHKB):c.569G>A (p.Gly190Glu)
|
rs2070688663
|
|
NM_005198.5(CHKB):c.577G>A (p.Glu193Lys)
|
rs1555894697
|
|
NM_005198.5(CHKB):c.580C>T (p.Arg194Trp)
|
rs763737224
|
|
NM_005198.5(CHKB):c.581+7C>G
|
|
|
NM_005198.5(CHKB):c.582-13C>T
|
|
|
NM_005198.5(CHKB):c.582-13_582-11del
|
rs766816072
|
|
NM_005198.5(CHKB):c.582-7G>T
|
|
|
NM_005198.5(CHKB):c.58A>C (p.Lys20Gln)
|
rs2146659155
|
|
NM_005198.5(CHKB):c.594G>A (p.Gln198=)
|
rs1555894626
|
|
NM_005198.5(CHKB):c.598del (p.Gln200fs)
|
rs757369551
|
|
NM_005198.5(CHKB):c.613A>G (p.Thr205Ala)
|
rs888546734
|
|
NM_005198.5(CHKB):c.619C>T (p.Leu207Phe)
|
rs552898356
|
|
NM_005198.5(CHKB):c.61G>A (p.Asp21Asn)
|
rs2070726433
|
|
NM_005198.5(CHKB):c.649A>G (p.Ser217Gly)
|
|
|
NM_005198.5(CHKB):c.673C>T (p.Leu225Phe)
|
rs543829328
|
|
NM_005198.5(CHKB):c.677+11del
|
|
|
NM_005198.5(CHKB):c.677+18A>G
|
|
|
NM_005198.5(CHKB):c.677+1G>A
|
rs786205118
|
|
NM_005198.5(CHKB):c.677+1G>C
|
|
|
NM_005198.5(CHKB):c.677+3G>A
|
rs2146654459
|
|
NM_005198.5(CHKB):c.678-16T>A
|
|
|
NM_005198.5(CHKB):c.678-1G>C
|
|
|
NM_005198.5(CHKB):c.678-6C>T
|
|
|
NM_005198.5(CHKB):c.67T>C (p.Leu23=)
|
|
|
NM_005198.5(CHKB):c.696C>T (p.Thr232=)
|
rs750454672
|
|
NM_005198.5(CHKB):c.702G>T (p.Ser234=)
|
rs139952595
|
|
NM_005198.5(CHKB):c.704C>G (p.Pro235Arg)
|
|
|
NM_005198.5(CHKB):c.704C>T (p.Pro235Leu)
|
rs199847760
|
|
NM_005198.5(CHKB):c.714C>G (p.Phe238Leu)
|
rs2070662071
|
|
NM_005198.5(CHKB):c.736+11G>A
|
|
|
NM_005198.5(CHKB):c.736+5_736+7del
|
|
|
NM_005198.5(CHKB):c.737-15dup
|
|
|
NM_005198.5(CHKB):c.737-1G>C
|
rs2146653379
|
|
NM_005198.5(CHKB):c.737-5C>T
|
|
|
NM_005198.5(CHKB):c.737-6C>T
|
rs1172577845
|
|
NM_005198.5(CHKB):c.744C>A (p.Ile248=)
|
|
|
NM_005198.5(CHKB):c.753C>G (p.Leu251=)
|
|
|
NM_005198.5(CHKB):c.75G>A (p.Gln25=)
|
|
|
NM_005198.5(CHKB):c.785T>G (p.Leu262Arg)
|
rs2146653235
|
|
NM_005198.5(CHKB):c.808_809insC (p.Tyr270fs)
|
rs2146653193
|
|
NM_005198.5(CHKB):c.80A>G (p.Lys27Arg)
|
|
|
NM_005198.5(CHKB):c.810T>A (p.Tyr270Ter)
|
rs750764003
|
|
NM_005198.5(CHKB):c.810T>C (p.Tyr270=)
|
rs750764003
|
|
NM_005198.5(CHKB):c.818+11A>T
|
|
|
NM_005198.5(CHKB):c.818+19C>T
|
|
|
NM_005198.5(CHKB):c.818+20T>A
|
|
|
NM_005198.5(CHKB):c.818+7C>T
|
|
|
NM_005198.5(CHKB):c.819-15A>T
|
rs1272038088
|
|
NM_005198.5(CHKB):c.819-16_819-7del
|
rs2146652864
|
|
NM_005198.5(CHKB):c.819-5C>T
|
|
|
NM_005198.5(CHKB):c.819-8T>G
|
|
|
NM_005198.5(CHKB):c.822C>T (p.Gly274=)
|
|
|
NM_005198.5(CHKB):c.834G>A (p.Gly278=)
|
|
|
NM_005198.5(CHKB):c.844dup (p.Cys282fs)
|
|
|
NM_005198.5(CHKB):c.856T>C (p.Tyr286His)
|
rs764474062
|
|
NM_005198.5(CHKB):c.860A>C (p.Asp287Ala)
|
rs1569052732
|
|
NM_005198.5(CHKB):c.86C>T (p.Pro29Leu)
|
|
|
NM_005198.5(CHKB):c.870C>A (p.His290Gln)
|
rs140020889
|
|
NM_005198.5(CHKB):c.871G>A (p.Glu291Lys)
|
|
|
NM_005198.5(CHKB):c.873G>T (p.Glu291Asp)
|
|
|
NM_005198.5(CHKB):c.882T>C (p.Pro294=)
|
|
|
NM_005198.5(CHKB):c.893C>T (p.Ala298Val)
|
rs370202172
|
|
NM_005198.5(CHKB):c.910C>A (p.Pro304Thr)
|
rs1410044885
|
|
NM_005198.5(CHKB):c.912C>A (p.Pro304=)
|
|
|
NM_005198.5(CHKB):c.922C>T (p.Gln308Ter)
|
rs387907069
|
|
NM_005198.5(CHKB):c.924G>A (p.Gln308=)
|
rs1569052662
|
|
NM_005198.5(CHKB):c.925C>G (p.Gln309Glu)
|
|
|
NM_005198.5(CHKB):c.925C>T (p.Gln309Ter)
|
rs139059552
|
|
NM_005198.5(CHKB):c.927+9G>C
|
|
|
NM_005198.5(CHKB):c.928-20C>A
|
rs1441598274
|
|
NM_005198.5(CHKB):c.928-5C>T
|
rs369532290
|
|
NM_005198.5(CHKB):c.928-7A>T
|
|
|
NM_005198.5(CHKB):c.939del (p.Arg314fs)
|
|
|
NM_005198.5(CHKB):c.946T>C (p.Tyr316His)
|
rs2070641095
|
|
NM_005198.5(CHKB):c.950T>A (p.Leu317Gln)
|
|
|
NM_005198.5(CHKB):c.964_967del (p.Lys322fs)
|
rs771681297
|
|
NM_005198.5(CHKB):c.990G>A (p.Glu330=)
|
|
|
NM_005198.5(CHKB):c.991C>G (p.Gln331Glu)
|
rs747586997
|
|
NM_005198.5(CHKB):c.9C>T (p.Ala3=)
|
|
|
NM_005572.3(LMNA):c.-225C>A
|
rs886045355
|
|
NM_005572.3(LMNA):c.-226C>T
|
rs886045354
|
|
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys)
|
rs80338938
|
|
NM_005868.6(BET1):c.202G>C (p.Asp68His)
|
rs1562806584
|
|
NM_005963.4(MYH1):c.1295A>C (p.Lys432Thr)
|
|
|
NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]
|
|
|
NM_006731.2:c.911-24_911-23insN[1200]
|
|
|
NM_006876.2(B4GAT1):[c.1168A>G;c.1217C>T]
|
|
|
NM_006876.3(B4GAT1):c.1018G>A (p.Glu340Lys)
|
rs1441553616
|
|
NM_006876.3(B4GAT1):c.1045C>A (p.Arg349=)
|
rs377282346
|
|
NM_006876.3(B4GAT1):c.1056+11G>A
|
|
|
NM_006876.3(B4GAT1):c.1056+15G>A
|
|
|
NM_006876.3(B4GAT1):c.1056+17G>A
|
|
|
NM_006876.3(B4GAT1):c.1056+6C>G
|
rs1555016387
|
|
NM_006876.3(B4GAT1):c.1057-13T>C
|
|
|
NM_006876.3(B4GAT1):c.1060T>C (p.Cys354Arg)
|
rs2134973952
|
|
NM_006876.3(B4GAT1):c.1062C>T (p.Cys354=)
|
|
|
NM_006876.3(B4GAT1):c.1067T>C (p.Leu356Pro)
|
rs878853035
|
|
NM_006876.3(B4GAT1):c.1074G>A (p.Val358=)
|
rs768782904
|
|
NM_006876.3(B4GAT1):c.1077G>A (p.Ala359=)
|
rs144759932
|
|
NM_006876.3(B4GAT1):c.1077G>C (p.Ala359=)
|
rs144759932
|
|
NM_006876.3(B4GAT1):c.1089dup (p.Glu364Ter)
|
|
|
NM_006876.3(B4GAT1):c.108G>A (p.Leu36=)
|
rs2134975722
|
|
NM_006876.3(B4GAT1):c.1096C>A (p.Leu366Met)
|
rs898632587
|
|
NM_006876.3(B4GAT1):c.1116T>G (p.Val372=)
|
rs1590633382
|
|
NM_006876.3(B4GAT1):c.1118A>T (p.His373Leu)
|
|
|
NM_006876.3(B4GAT1):c.1122G>A (p.Lys374=)
|
rs754282235
|
|
NM_006876.3(B4GAT1):c.1137G>A (p.Ala379=)
|
|
|
NM_006876.3(B4GAT1):c.1151C>G (p.Pro384Arg)
|
rs1443678248
|
|
NM_006876.3(B4GAT1):c.1152C>G (p.Pro384=)
|
|
|
NM_006876.3(B4GAT1):c.1152C>T (p.Pro384=)
|
rs767119927
|
|
NM_006876.3(B4GAT1):c.1176C>T (p.His392=)
|
rs375281337
|
|
NM_006876.3(B4GAT1):c.1200C>G (p.Phe400Leu)
|
|
|
NM_006876.3(B4GAT1):c.1207G>T (p.Glu403Ter)
|
rs921785357
|
|
NM_006876.3(B4GAT1):c.1240C>T (p.Arg414Cys)
|
rs562459083
|
|
NM_006876.3(B4GAT1):c.132A>G (p.Gln44=)
|
rs749485530
|
|
NM_006876.3(B4GAT1):c.133T>C (p.Tyr45His)
|
rs780415381
|
|
NM_006876.3(B4GAT1):c.151C>T (p.Pro51Ser)
|
rs1272704626
|
|
NM_006876.3(B4GAT1):c.153G>A (p.Pro51=)
|
rs2134975644
|
|
NM_006876.3(B4GAT1):c.157C>T (p.Pro53Ser)
|
rs1000733603
|
|
NM_006876.3(B4GAT1):c.162G>A (p.Arg54=)
|
rs751180898
|
|
NM_006876.3(B4GAT1):c.170A>C (p.Asp57Ala)
|
rs1555016653
|
|
NM_006876.3(B4GAT1):c.173A>G (p.Gln58Arg)
|
rs1555016650
|
|
NM_006876.3(B4GAT1):c.185A>G (p.Gln62Arg)
|
rs529539963
|
|
NM_006876.3(B4GAT1):c.237C>T (p.Tyr79=)
|
|
|
NM_006876.3(B4GAT1):c.240C>T (p.Arg80=)
|
|
|
NM_006876.3(B4GAT1):c.248G>T (p.Arg83Met)
|
|
|
NM_006876.3(B4GAT1):c.271G>A (p.Asp91Asn)
|
rs1855236030
|
|
NM_006876.3(B4GAT1):c.292G>A (p.Ala98Thr)
|
|
|
NM_006876.3(B4GAT1):c.2T>C (p.Met1Thr)
|
rs1855240969
|
|
NM_006876.3(B4GAT1):c.324C>T (p.His108=)
|
|
|
NM_006876.3(B4GAT1):c.327G>T (p.Leu109=)
|
rs752090290
|
|
NM_006876.3(B4GAT1):c.330G>A (p.Ser110=)
|
|
|
NM_006876.3(B4GAT1):c.342G>A (p.Glu114=)
|
|
|
NM_006876.3(B4GAT1):c.363C>G (p.Ser121=)
|
rs947725699
|
|
NM_006876.3(B4GAT1):c.377C>T (p.Ala126Val)
|
rs1161795181
|
|
NM_006876.3(B4GAT1):c.409G>A (p.Val137Met)
|
rs376914969
|
|
NM_006876.3(B4GAT1):c.415G>T (p.Ala139Ser)
|
rs1565209689
|
|
NM_006876.3(B4GAT1):c.420C>T (p.Tyr140=)
|
rs1163789115
|
|
NM_006876.3(B4GAT1):c.441C>G (p.Pro147=)
|
rs1590634309
|
|
NM_006876.3(B4GAT1):c.447G>C (p.Met149Ile)
|
rs374533716
|
|
NM_006876.3(B4GAT1):c.447G>T (p.Met149Ile)
|
rs374533716
|
|
NM_006876.3(B4GAT1):c.460G>T (p.Ala154Ser)
|
rs1555016589
|
|
NM_006876.3(B4GAT1):c.471C>T (p.Leu157=)
|
|
|
NM_006876.3(B4GAT1):c.480C>G (p.Pro160=)
|
|
|
NM_006876.3(B4GAT1):c.485G>A (p.Arg162His)
|
rs1565209634
|
|
NM_006876.3(B4GAT1):c.506A>T (p.Asp169Val)
|
rs1855229583
|
|
NM_006876.3(B4GAT1):c.514G>C (p.Glu172Gln)
|
rs761732914
|
|
NM_006876.3(B4GAT1):c.521G>T (p.Gly174Val)
|
rs771427950
|
|
NM_006876.3(B4GAT1):c.553G>A (p.Val185Ile)
|
rs1855227445
|
|
NM_006876.3(B4GAT1):c.572G>A (p.Arg191Lys)
|
|
|
NM_006876.3(B4GAT1):c.576G>A (p.Val192=)
|
|
|
NM_006876.3(B4GAT1):c.582G>A (p.Gln194=)
|
|
|
NM_006876.3(B4GAT1):c.583C>T (p.Pro195Ser)
|
|
|
NM_006876.3(B4GAT1):c.590T>G (p.Ile197Ser)
|
|
|
NM_006876.3(B4GAT1):c.600G>A (p.Ala200=)
|
|
|
NM_006876.3(B4GAT1):c.603G>C (p.Leu201=)
|
rs2134974950
|
|
NM_006876.3(B4GAT1):c.612T>G (p.Asn204Lys)
|
|
|
NM_006876.3(B4GAT1):c.630C>T (p.Asn210=)
|
|
|
NM_006876.3(B4GAT1):c.646G>C (p.Ala216Pro)
|
|
|
NM_006876.3(B4GAT1):c.675G>A (p.Val225=)
|
|
|
NM_006876.3(B4GAT1):c.678C>A (p.Ile226=)
|
|
|
NM_006876.3(B4GAT1):c.679G>A (p.Asp227Asn)
|
rs1288080924
|
|
NM_006876.3(B4GAT1):c.688A>C (p.Met230Leu)
|
rs774850290
|
|
NM_006876.3(B4GAT1):c.688A>G (p.Met230Val)
|
rs774850290
|
|
NM_006876.3(B4GAT1):c.699C>A (p.Ser233Arg)
|
rs768060657
|
|
NM_006876.3(B4GAT1):c.69G>T (p.Ala23=)
|
|
|
NM_006876.3(B4GAT1):c.717C>G (p.Gly239=)
|
|
|
NM_006876.3(B4GAT1):c.748dup (p.Trp250fs)
|
rs1379626331
|
|
NM_006876.3(B4GAT1):c.771G>A (p.Val257=)
|
|
|
NM_006876.3(B4GAT1):c.775G>A (p.Ala259Thr)
|
rs766537591
|
|
NM_006876.3(B4GAT1):c.780C>G (p.Phe260Leu)
|
rs1319732212
|
|
NM_006876.3(B4GAT1):c.787C>G (p.Arg263Gly)
|
rs2134974665
|
|
NM_006876.3(B4GAT1):c.796C>T (p.Arg266Cys)
|
rs1455459346
|
|
NM_006876.3(B4GAT1):c.79C>A (p.Leu27Met)
|
|
|
NM_006876.3(B4GAT1):c.79C>T (p.Leu27=)
|
|
|
NM_006876.3(B4GAT1):c.819C>G (p.Asn273Lys)
|
|
|
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs)
|
rs730882237
|
|
NM_006876.3(B4GAT1):c.828G>A (p.Val276=)
|
rs142956522
|
|
NM_006876.3(B4GAT1):c.835T>C (p.Tyr279His)
|
rs1855220609
|
|
NM_006876.3(B4GAT1):c.837C>T (p.Tyr279=)
|
|
|
NM_006876.3(B4GAT1):c.838C>A (p.Gln280Lys)
|
rs1187161687
|
|
NM_006876.3(B4GAT1):c.85T>G (p.Tyr29Asp)
|
|
|
NM_006876.3(B4GAT1):c.864T>A (p.Tyr288Ter)
|
|
|
NM_006876.3(B4GAT1):c.870G>A (p.Gly290=)
|
rs2134974531
|
|
NM_006876.3(B4GAT1):c.872T>G (p.Leu291Trp)
|
|
|
NM_006876.3(B4GAT1):c.888G>A (p.Gln296=)
|
|
|
NM_006876.3(B4GAT1):c.89T>C (p.Leu30Pro)
|
|
|
NM_006876.3(B4GAT1):c.955G>C (p.Val319Leu)
|
rs2134974418
|
|
NM_006876.3(B4GAT1):c.980C>A (p.Pro327Gln)
|
rs1555016420
|
|
NM_006876.3(B4GAT1):c.984C>T (p.Phe328=)
|
rs368961025
|
|
NM_007171.4(POMT1):c.429_430del
|
|
|
NM_013382.5(POMT2):c.1170_1171del
|
rs764210532
|
|
NM_013382.5(POMT2):c.[1170_1171delTA];[1261C>T]
|
|
|
NM_013382.7(POMT2):c.*103C>T
|
rs886050825
|
|
NM_013382.7(POMT2):c.*1043C>T
|
rs373396403
|
|
NM_013382.7(POMT2):c.*1317A>G
|
rs144329117
|
|
NM_013382.7(POMT2):c.*1317A>T
|
rs144329117
|
|
NM_013382.7(POMT2):c.*1474G>A
|
rs749841763
|
|
NM_013382.7(POMT2):c.*15T>C
|
rs538140316
|
|
NM_013382.7(POMT2):c.*1610T>C
|
rs886050814
|
|
NM_013382.7(POMT2):c.*1641C>T
|
rs151201281
|
|
NM_013382.7(POMT2):c.*1734A>C
|
rs1889915019
|
|
NM_013382.7(POMT2):c.*1774C>T
|
rs1889911263
|
|
NM_013382.7(POMT2):c.*186C>G
|
rs547018226
|
|
NM_013382.7(POMT2):c.*1893G>A
|
rs114623446
|
|
NM_013382.7(POMT2):c.*1906G>A
|
rs1429067153
|
|
NM_013382.7(POMT2):c.*2077T>C
|
rs1889895782
|
|
NM_013382.7(POMT2):c.*2080G>A
|
rs1889895704
|
|
NM_013382.7(POMT2):c.*2093A>G
|
rs528818473
|
|
NM_013382.7(POMT2):c.*2151A>G
|
rs45579739
|
|
NM_013382.7(POMT2):c.*574T>C
|
rs574135706
|
|
NM_013382.7(POMT2):c.*594G>A
|
rs886050821
|
|
NM_013382.7(POMT2):c.*605C>G
|
rs186897393
|
|
NM_013382.7(POMT2):c.*605C>T
|
rs186897393
|
|
NM_013382.7(POMT2):c.-113G>A
|
rs1891868176
|
|
NM_013382.7(POMT2):c.-136G>A
|
rs1891870150
|
|
NM_013382.7(POMT2):c.-172C>A
|
rs897215490
|
|
NM_013382.7(POMT2):c.-176C>G
|
rs978645827
|
|
NM_013382.7(POMT2):c.-47_-44del
|
rs368351148
|
|
NM_013382.7(POMT2):c.1000C>T (p.Pro334Ser)
|
rs1890916653
|
|
NM_013382.7(POMT2):c.1006+16C>G
|
|
|
NM_013382.7(POMT2):c.1006+4_1006+7del
|
rs1594794303
|
|
NM_013382.7(POMT2):c.1006+9C>T
|
|
|
NM_013382.7(POMT2):c.1006C>A (p.His336Asn)
|
rs765103940
|
|
NM_013382.7(POMT2):c.1007-11C>G
|
|
|
NM_013382.7(POMT2):c.1007-12C>T
|
|
|
NM_013382.7(POMT2):c.1007-13C>G
|
|
|
NM_013382.7(POMT2):c.1007-15C>T
|
|
|
NM_013382.7(POMT2):c.1007-17G>C
|
|
|
NM_013382.7(POMT2):c.1007-20G>A
|
|
|
NM_013382.7(POMT2):c.1007-20G>T
|
|
|
NM_013382.7(POMT2):c.1007-9T>G
|
|
|
NM_013382.7(POMT2):c.1009C>T (p.Leu337=)
|
rs777184206
|
|
NM_013382.7(POMT2):c.1012G>A (p.Ala338Thr)
|
rs771636400
|
|
NM_013382.7(POMT2):c.102C>G (p.Ala34=)
|
rs886044233
|
|
NM_013382.7(POMT2):c.1030A>C (p.Thr344Pro)
|
rs1285454398
|
|
NM_013382.7(POMT2):c.1034_1035del (p.Val345fs)
|
rs1890825132
|
|
NM_013382.7(POMT2):c.1040A>C (p.Asn347Thr)
|
rs371158744
|
|
NM_013382.7(POMT2):c.1044C>T (p.Leu348=)
|
rs267604062
|
|
NM_013382.7(POMT2):c.1045C>G (p.Arg349Gly)
|
rs141339355
|
|
NM_013382.7(POMT2):c.1046_1052del (p.Arg349fs)
|
|
|
NM_013382.7(POMT2):c.1048A>G (p.Met350Val)
|
rs749883166
|
|
NM_013382.7(POMT2):c.1051del (p.Ala351fs)
|
|
|
NM_013382.7(POMT2):c.1056C>T (p.Ile352=)
|
|
|
NM_013382.7(POMT2):c.1071C>G (p.Ser357=)
|
|
|
NM_013382.7(POMT2):c.1074C>T (p.His358=)
|
|
|
NM_013382.7(POMT2):c.1077G>A (p.Arg359=)
|
|
|
NM_013382.7(POMT2):c.1088C>T (p.Pro363Leu)
|
rs2140218751
|
|
NM_013382.7(POMT2):c.1103C>T (p.Ala368Val)
|
rs1890820771
|
|
NM_013382.7(POMT2):c.1105C>A (p.Arg369Ser)
|
|
|
NM_013382.7(POMT2):c.1108C>A (p.Gln370Lys)
|
|
|
NM_013382.7(POMT2):c.1110G>A (p.Gln370=)
|
|
|
NM_013382.7(POMT2):c.1116+10C>T
|
|
|
NM_013382.7(POMT2):c.1116+17T>C
|
|
|
NM_013382.7(POMT2):c.1116+8A>C
|
|
|
NM_013382.7(POMT2):c.1117-11C>T
|
|
|
NM_013382.7(POMT2):c.1117-12C>A
|
rs535647699
|
|
NM_013382.7(POMT2):c.1117-12C>G
|
rs535647699
|
|
NM_013382.7(POMT2):c.1117-12C>T
|
|
|
NM_013382.7(POMT2):c.1117-14C>A
|
|
|
NM_013382.7(POMT2):c.1117-16CCCACCC[3]
|
|
|
NM_013382.7(POMT2):c.1117-17C>G
|
|
|
NM_013382.7(POMT2):c.1117-19G>A
|
|
|
NM_013382.7(POMT2):c.1117-19G>T
|
|
|
NM_013382.7(POMT2):c.1117-7C>A
|
|
|
NM_013382.7(POMT2):c.1117-7C>G
|
rs201921627
|
|
NM_013382.7(POMT2):c.1117-7C>T
|
rs201921627
|
|
NM_013382.7(POMT2):c.1117-7del
|
|
|
NM_013382.7(POMT2):c.1117G>C (p.Val373Leu)
|
|
|
NM_013382.7(POMT2):c.1117G>T (p.Val373Phe)
|
rs267606965
|
|
NM_013382.7(POMT2):c.1119C>T (p.Val373=)
|
|
|
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs)
|
rs886042401
|
|
NM_013382.7(POMT2):c.1130T>A (p.Leu377Ter)
|
|
|
NM_013382.7(POMT2):c.1133A>G (p.His378Arg)
|
rs867000155
|
|
NM_013382.7(POMT2):c.1137G>A (p.Lys379=)
|
|
|
NM_013382.7(POMT2):c.1150C>T (p.Leu384=)
|
|
|
NM_013382.7(POMT2):c.1158dup (p.Ile387fs)
|
|
|
NM_013382.7(POMT2):c.1169A>C (p.His390Pro)
|
|
|
NM_013382.7(POMT2):c.1179C>T (p.Asn393=)
|
|
|
NM_013382.7(POMT2):c.1183+11C>T
|
|
|
NM_013382.7(POMT2):c.1183+13G>A
|
rs2140203548
|
|
NM_013382.7(POMT2):c.1183+1G>A
|
|
|
NM_013382.7(POMT2):c.1184-11C>G
|
|
|
NM_013382.7(POMT2):c.1184-12T>A
|
|
|
NM_013382.7(POMT2):c.1184-19G>C
|
|
|
NM_013382.7(POMT2):c.1184-1G>C
|
|
|
NM_013382.7(POMT2):c.1184-5G>T
|
|
|
NM_013382.7(POMT2):c.1187C>T (p.Pro396Leu)
|
|
|
NM_013382.7(POMT2):c.1189C>G (p.Leu397Val)
|
|
|
NM_013382.7(POMT2):c.118C>G (p.Arg40Gly)
|
rs755650000
|
|
NM_013382.7(POMT2):c.118C>T (p.Arg40Ter)
|
|
|
NM_013382.7(POMT2):c.118_119del (p.Arg40fs)
|
|
|
NM_013382.7(POMT2):c.1206A>G (p.Pro402=)
|
|
|
NM_013382.7(POMT2):c.1210G>A (p.Glu404Lys)
|
rs2140195392
|
|
NM_013382.7(POMT2):c.1221A>G (p.Arg407=)
|
rs1594787171
|
|
NM_013382.7(POMT2):c.1223A>G (p.His408Arg)
|
rs1594787166
|
|
NM_013382.7(POMT2):c.1231A>G (p.Ile411Val)
|
|
|
NM_013382.7(POMT2):c.1231A>T (p.Ile411Phe)
|
|
|
NM_013382.7(POMT2):c.1238G>A (p.Arg413Gln)
|
rs190285831
|
|
NM_013382.7(POMT2):c.1239A>C (p.Arg413=)
|
|
|
NM_013382.7(POMT2):c.1243G>T (p.Glu415Ter)
|
|
|
NM_013382.7(POMT2):c.1248C>G (p.His416Gln)
|
rs1566649375
|
|
NM_013382.7(POMT2):c.1253+13G>T
|
|
|
NM_013382.7(POMT2):c.1253+16del
|
|
|
NM_013382.7(POMT2):c.1254-13_1254-12del
|
rs2140188664
|
|
NM_013382.7(POMT2):c.1254-16C>G
|
|
|
NM_013382.7(POMT2):c.1254-2A>G
|
|
|
NM_013382.7(POMT2):c.1254-3T>C
|
rs766683771
|
|
NM_013382.7(POMT2):c.1254-6T>G
|
|
|
NM_013382.7(POMT2):c.1254-9A>G
|
rs1594890973
|
|
NM_013382.7(POMT2):c.1261C>A (p.Arg421=)
|
|
|
NM_013382.7(POMT2):c.1261del (p.Arg421fs)
|
rs587777815
|
|
NM_013382.7(POMT2):c.1265A>G (p.Asn422Ser)
|
rs2140188544
|
|
NM_013382.7(POMT2):c.1271A>G (p.His424Arg)
|
rs1359158673
|
|
NM_013382.7(POMT2):c.1272C>T (p.His424=)
|
rs1328987547
|
|
NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)
|
|
|
NM_013382.7(POMT2):c.1282_1284del (p.His428del)
|
rs1594890912
|
|
NM_013382.7(POMT2):c.1291C>T (p.Pro431Ser)
|
|
|
NM_013382.7(POMT2):c.1293C>T (p.Pro431=)
|
|
|
NM_013382.7(POMT2):c.1293dup (p.Met432fs)
|
rs1555352706
|
|
NM_013382.7(POMT2):c.129_131del (p.Arg44del)
|
|
|
NM_013382.7(POMT2):c.12C>T (p.Ala4=)
|
|
|
NM_013382.7(POMT2):c.1300del (p.Arg434fs)
|
rs2140188352
|
|
NM_013382.7(POMT2):c.1301G>A (p.Arg434Gln)
|
|
|
NM_013382.7(POMT2):c.130C>A (p.Arg44=)
|
rs2139551017
|
|
NM_013382.7(POMT2):c.1310A>G (p.Tyr437Cys)
|
|
|
NM_013382.7(POMT2):c.1311T>G (p.Tyr437Ter)
|
|
|
NM_013382.7(POMT2):c.1317C>T (p.Val439=)
|
rs898725472
|
|
NM_013382.7(POMT2):c.1329_1332+5del
|
rs1566648219
|
|
NM_013382.7(POMT2):c.1332+10C>A
|
|
|
NM_013382.7(POMT2):c.1332+10del
|
|
|
NM_013382.7(POMT2):c.1332+12A>G
|
|
|
NM_013382.7(POMT2):c.1332+17G>A
|
|
|
NM_013382.7(POMT2):c.1332+19T>C
|
|
|
NM_013382.7(POMT2):c.1332+19T>G
|
rs1057522317
|
|
NM_013382.7(POMT2):c.1332+20G>A
|
|
|
NM_013382.7(POMT2):c.1332+6_1332+9del
|
rs781093215
|
|
NM_013382.7(POMT2):c.1332+8A>C
|
|
|
NM_013382.7(POMT2):c.1333-14G>A
|
rs918556979
|
|
NM_013382.7(POMT2):c.1333-16T>C
|
|
|
NM_013382.7(POMT2):c.1333-17C>A
|
|
|
NM_013382.7(POMT2):c.1333-6T>C
|
|
|
NM_013382.7(POMT2):c.133C>G (p.Pro45Ala)
|
rs780976004
|
|
NM_013382.7(POMT2):c.1341_1342del (p.Asp449fs)
|
|
|
NM_013382.7(POMT2):c.1348T>G (p.Ser450Ala)
|
|
|
NM_013382.7(POMT2):c.134C>G (p.Pro45Arg)
|
rs753037500
|
|
NM_013382.7(POMT2):c.134C>T (p.Pro45Leu)
|
rs753037500
|
|
NM_013382.7(POMT2):c.1350A>T (p.Ser450=)
|
rs750632019
|
|
NM_013382.7(POMT2):c.135T>A (p.Pro45=)
|
rs1891844737
|
|
NM_013382.7(POMT2):c.1367T>C (p.Ile456Thr)
|
rs1890397099
|
|
NM_013382.7(POMT2):c.1371G>A (p.Glu457=)
|
|
|
NM_013382.7(POMT2):c.1374C>T (p.Val458=)
|
|
|
NM_013382.7(POMT2):c.1382G>A (p.Arg461Lys)
|
rs1030338170
|
|
NM_013382.7(POMT2):c.1385A>G (p.Lys462Arg)
|
|
|
NM_013382.7(POMT2):c.138T>C (p.Ala46=)
|
|
|
NM_013382.7(POMT2):c.1394A>G (p.Asn465Ser)
|
|
|
NM_013382.7(POMT2):c.1396C>A (p.Arg466=)
|
rs763119319
|
|
NM_013382.7(POMT2):c.139_145del (p.Trp47fs)
|
|
|
NM_013382.7(POMT2):c.13A>T (p.Thr5Ser)
|
rs1891858162
|
|
NM_013382.7(POMT2):c.1412_1413dup (p.Ser472fs)
|
|
|
NM_013382.7(POMT2):c.1413_1414del (p.Arg473fs)
|
|
|
NM_013382.7(POMT2):c.141G>A (p.Trp47Ter)
|
|
|
NM_013382.7(POMT2):c.1423C>A (p.Arg475Ser)
|
rs746000047
|
|
NM_013382.7(POMT2):c.1426T>C (p.Phe476Leu)
|
rs727502856
|
|
NM_013382.7(POMT2):c.1445G>T (p.Gly482Val)
|
rs267606968
|
|
NM_013382.7(POMT2):c.1452C>T (p.Val484=)
|
|
|
NM_013382.7(POMT2):c.1453C>T (p.Leu485=)
|
|
|
NM_013382.7(POMT2):c.1461C>T (p.Ser487=)
|
|
|
NM_013382.7(POMT2):c.1464G>A (p.Ser488=)
|
rs375698520
|
|
NM_013382.7(POMT2):c.1464G>T (p.Ser488=)
|
|
|
NM_013382.7(POMT2):c.1467A>T (p.Gly489=)
|
rs1555352583
|
|
NM_013382.7(POMT2):c.1471G>C (p.Val491Leu)
|
|
|
NM_013382.7(POMT2):c.1479C>T (p.Pro493=)
|
rs769462000
|
|
NM_013382.7(POMT2):c.1480A>G (p.Lys494Glu)
|
|
|
NM_013382.7(POMT2):c.1482G>A (p.Lys494=)
|
|
|
NM_013382.7(POMT2):c.1484+13G>A
|
|
|
NM_013382.7(POMT2):c.1484+19G>T
|
|
|
NM_013382.7(POMT2):c.1484+1G>A
|
|
|
NM_013382.7(POMT2):c.1484+1_1484+3dup
|
rs1890389214
|
|
NM_013382.7(POMT2):c.1484+5G>A
|
|
|
NM_013382.7(POMT2):c.1484+7C>T
|
|
|
NM_013382.7(POMT2):c.1485-14T>C
|
|
|
NM_013382.7(POMT2):c.1485-20G>A
|
|
|
NM_013382.7(POMT2):c.148C>T (p.Arg50Trp)
|
rs550420394
|
|
NM_013382.7(POMT2):c.1494G>A (p.Glu498=)
|
|
|
NM_013382.7(POMT2):c.1495C>T (p.Gln499Ter)
|
|
|
NM_013382.7(POMT2):c.14C>G (p.Thr5Arg)
|
rs760413289
|
|
NM_013382.7(POMT2):c.1527A>G (p.Lys509=)
|
|
|
NM_013382.7(POMT2):c.1536C>T (p.Leu512=)
|
|
|
NM_013382.7(POMT2):c.1538A>G (p.Asn513Ser)
|
|
|
NM_013382.7(POMT2):c.1539C>T (p.Asn513=)
|
|
|
NM_013382.7(POMT2):c.153C>T (p.Arg51=)
|
|
|
NM_013382.7(POMT2):c.1540T>A (p.Ser514Thr)
|
rs1566647081
|
|
NM_013382.7(POMT2):c.1555G>T (p.Glu519Ter)
|
rs1379963762
|
|
NM_013382.7(POMT2):c.1568A>G (p.Asn523Ser)
|
rs886042386
|
|
NM_013382.7(POMT2):c.1568A>T (p.Asn523Ile)
|
rs886042386
|
|
NM_013382.7(POMT2):c.1570C>T (p.Pro524Ser)
|
rs1421956619
|
|
NM_013382.7(POMT2):c.1571C>T (p.Pro524Leu)
|
|
|
NM_013382.7(POMT2):c.1574A>C (p.Lys525Thr)
|
rs767137783
|
|
NM_013382.7(POMT2):c.1576+10G>T
|
rs756884609
|
|
NM_013382.7(POMT2):c.1576+13A>G
|
|
|
NM_013382.7(POMT2):c.1576+14C>T
|
|
|
NM_013382.7(POMT2):c.1576+20G>A
|
|
|
NM_013382.7(POMT2):c.1576+5G>A
|
rs2140182723
|
|
NM_013382.7(POMT2):c.1577-19C>T
|
|
|
NM_013382.7(POMT2):c.1577-7C>T
|
|
|
NM_013382.7(POMT2):c.1577-8T>C
|
|
|
NM_013382.7(POMT2):c.1577-8del
|
rs749856419
|
|
NM_013382.7(POMT2):c.1577-8dup
|
|
|
NM_013382.7(POMT2):c.1577T>A (p.Leu526Ter)
|
|
|
NM_013382.7(POMT2):c.1593G>C (p.Leu531=)
|
|
|
NM_013382.7(POMT2):c.1599G>A (p.Val533=)
|
rs768426838
|
|
NM_013382.7(POMT2):c.1604A>T (p.Gln535Leu)
|
rs147882035
|
|
NM_013382.7(POMT2):c.160G>A (p.Ala54Thr)
|
|
|
NM_013382.7(POMT2):c.1621A>G (p.Ile541Val)
|
rs2140179545
|
|
NM_013382.7(POMT2):c.1627C>G (p.Leu543Val)
|
|
|
NM_013382.7(POMT2):c.162G>C (p.Ala54=)
|
rs2270420
|
|
NM_013382.7(POMT2):c.1635C>T (p.Ser545=)
|
|
|
NM_013382.7(POMT2):c.1637A>C (p.His546Pro)
|
|
|
NM_013382.7(POMT2):c.1638C>T (p.His546=)
|
rs2140179482
|
|
NM_013382.7(POMT2):c.163dup (p.Val55fs)
|
|
|
NM_013382.7(POMT2):c.1645A>G (p.Met549Val)
|
rs1555352401
|
|
NM_013382.7(POMT2):c.1653+10C>T
|
|
|
NM_013382.7(POMT2):c.1653+11C>A
|
|
|
NM_013382.7(POMT2):c.1653+14T>C
|
|
|
NM_013382.7(POMT2):c.1653+17C>T
|
rs1268392742
|
|
NM_013382.7(POMT2):c.1653+20T>G
|
|
|
NM_013382.7(POMT2):c.1654-11C>T
|
|
|
NM_013382.7(POMT2):c.1654-12A>G
|
|
|
NM_013382.7(POMT2):c.1654-15G>C
|
|
|
NM_013382.7(POMT2):c.1654-2A>T
|
|
|
NM_013382.7(POMT2):c.1654-5T>C
|
rs1594885955
|
|
NM_013382.7(POMT2):c.1654-5T>G
|
|
|
NM_013382.7(POMT2):c.1654-6A>C
|
|
|
NM_013382.7(POMT2):c.1654-7C>A
|
rs578133776
|
|
NM_013382.7(POMT2):c.1655G>A (p.Gly552Glu)
|
|
|
NM_013382.7(POMT2):c.1658dup (p.Asn553fs)
|
rs886043110
|
|
NM_013382.7(POMT2):c.1661del (p.Ser554fs)
|
|
|
NM_013382.7(POMT2):c.1664G>T (p.Gly555Val)
|
|
|
NM_013382.7(POMT2):c.1666C>T (p.Leu556Phe)
|
rs1890178718
|
|
NM_013382.7(POMT2):c.1668C>G (p.Leu556=)
|
|
|
NM_013382.7(POMT2):c.1671A>G (p.Lys557=)
|
|
|
NM_013382.7(POMT2):c.1673C>T (p.Pro558Leu)
|
rs2140169524
|
|
NM_013382.7(POMT2):c.1674C>T (p.Pro558=)
|
|
|
NM_013382.7(POMT2):c.168C>T (p.Gly56=)
|
rs2139550502
|
|
NM_013382.7(POMT2):c.16G>A (p.Gly6Ser)
|
rs751918638
|
|
NM_013382.7(POMT2):c.1704G>A (p.Trp568Ter)
|
|
|
NM_013382.7(POMT2):c.1706_1712del (p.His569fs)
|
rs2140169285
|
|
NM_013382.7(POMT2):c.1709G>T (p.Trp570Leu)
|
rs910353997
|
|
NM_013382.7(POMT2):c.1712dup (p.Ile572fs)
|
rs780725241
|
|
NM_013382.7(POMT2):c.1713T>C (p.Pro571=)
|
|
|
NM_013382.7(POMT2):c.1721A>C (p.Tyr574Ser)
|
rs142870987
|
|
NM_013382.7(POMT2):c.1721A>G (p.Tyr574Cys)
|
rs142870987
|
|
NM_013382.7(POMT2):c.1725+11A>G
|
|
|
NM_013382.7(POMT2):c.1725+13G>C
|
rs1890173997
|
|
NM_013382.7(POMT2):c.1725+14C>G
|
|
|
NM_013382.7(POMT2):c.1725+15T>C
|
|
|
NM_013382.7(POMT2):c.1725+17G>A
|
|
|
NM_013382.7(POMT2):c.1725+18G>C
|
|
|
NM_013382.7(POMT2):c.1725+19G>A
|
|
|
NM_013382.7(POMT2):c.1725+8C>G
|
|
|
NM_013382.7(POMT2):c.1726-11C>G
|
|
|
NM_013382.7(POMT2):c.1726-11C>T
|
|
|
NM_013382.7(POMT2):c.1726-19G>T
|
rs530158780
|
|
NM_013382.7(POMT2):c.1726-1dup
|
rs1229291913
|
|
NM_013382.7(POMT2):c.1726-20G>A
|
|
|
NM_013382.7(POMT2):c.1726-8T>C
|
|
|
NM_013382.7(POMT2):c.1726-9A>T
|
rs747493997
|
|
NM_013382.7(POMT2):c.1730T>A (p.Leu577Gln)
|
|
|
NM_013382.7(POMT2):c.1738T>C (p.Ser580Pro)
|
rs370529777
|
|
NM_013382.7(POMT2):c.1740A>C (p.Ser580=)
|
|
|
NM_013382.7(POMT2):c.1740_1741del (p.Val582fs)
|
|
|
NM_013382.7(POMT2):c.1744G>T (p.Val582Phe)
|
|
|
NM_013382.7(POMT2):c.1746C>A (p.Val582=)
|
|
|
NM_013382.7(POMT2):c.1749T>C (p.Asn583=)
|
rs1416940075
|
|
NM_013382.7(POMT2):c.1754_1755del (p.Thr585fs)
|
rs1555351894
|
|
NM_013382.7(POMT2):c.1767C>G (p.Val589=)
|
|
|
NM_013382.7(POMT2):c.1768T>C (p.Tyr590His)
|
rs2140167504
|
|
NM_013382.7(POMT2):c.1768dup (p.Tyr590fs)
|
|
|
NM_013382.7(POMT2):c.1774C>T (p.Leu592Phe)
|
|
|
NM_013382.7(POMT2):c.1776T>G (p.Leu592=)
|
|
|
NM_013382.7(POMT2):c.1781A>G (p.Asn594Ser)
|
|
|
NM_013382.7(POMT2):c.1782C>T (p.Asn594=)
|
|
|
NM_013382.7(POMT2):c.1785+15A>G
|
|
|
NM_013382.7(POMT2):c.1785+17T>G
|
|
|
NM_013382.7(POMT2):c.1785+6dup
|
|
|
NM_013382.7(POMT2):c.1785+7G>A
|
|
|
NM_013382.7(POMT2):c.1785+8C>T
|
|
|
NM_013382.7(POMT2):c.1786-15C>G
|
|
|
NM_013382.7(POMT2):c.1786-2A>T
|
|
|
NM_013382.7(POMT2):c.1786-4A>G
|
|
|
NM_013382.7(POMT2):c.1786-7T>C
|
|
|
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter)
|
rs1566644018
|
|
NM_013382.7(POMT2):c.1800G>C (p.Leu600=)
|
|
|
NM_013382.7(POMT2):c.1800G>T (p.Leu600=)
|
rs757165656
|
|
NM_013382.7(POMT2):c.1803T>C (p.Asn601=)
|
|
|
NM_013382.7(POMT2):c.180G>C (p.Leu60=)
|
|
|
NM_013382.7(POMT2):c.1815C>T (p.Ile605=)
|
|
|
NM_013382.7(POMT2):c.1816G>A (p.Ala606Thr)
|
|
|
NM_013382.7(POMT2):c.1818C>T (p.Ala606=)
|
|
|
NM_013382.7(POMT2):c.1822T>C (p.Tyr608His)
|
|
|
NM_013382.7(POMT2):c.1828C>T (p.Leu610Phe)
|
rs1555351859
|
|
NM_013382.7(POMT2):c.1839C>T (p.Ser613=)
|
rs1400122508
|
|
NM_013382.7(POMT2):c.1841T>A (p.Ile614Asn)
|
|
|
NM_013382.7(POMT2):c.1846G>A (p.Ala616Thr)
|
|
|
NM_013382.7(POMT2):c.1854C>G (p.Ala618=)
|
rs1407950406
|
|
NM_013382.7(POMT2):c.1854C>T (p.Ala618=)
|
rs1407950406
|
|
NM_013382.7(POMT2):c.1855A>G (p.Met619Val)
|
rs1890143383
|
|
NM_013382.7(POMT2):c.1857G>C (p.Met619Ile)
|
rs1594885046
|
|
NM_013382.7(POMT2):c.1875G>C (p.Leu625=)
|
|
|
NM_013382.7(POMT2):c.1885G>A (p.Val629Ile)
|
rs777708372
|
|
NM_013382.7(POMT2):c.1888G>T (p.Ala630Ser)
|
rs111857094
|
|
NM_013382.7(POMT2):c.188del (p.Leu63fs)
|
|
|
NM_013382.7(POMT2):c.1891+12T>G
|
|
|
NM_013382.7(POMT2):c.1891+13G>A
|
rs2140166262
|
|
NM_013382.7(POMT2):c.1891+14G>A
|
|
|
NM_013382.7(POMT2):c.1891+15G>T
|
|
|
NM_013382.7(POMT2):c.1891+16C>T
|
|
|
NM_013382.7(POMT2):c.1891+1G>C
|
|
|
NM_013382.7(POMT2):c.1891+2T>C
|
rs1594884932
|
|
NM_013382.7(POMT2):c.1892-14C>G
|
|
|
NM_013382.7(POMT2):c.1892-15G>A
|
|
|
NM_013382.7(POMT2):c.1892-16T>C
|
|
|
NM_013382.7(POMT2):c.1892-1G>C
|
|
|
NM_013382.7(POMT2):c.1892-5C>T
|
|
|
NM_013382.7(POMT2):c.1902G>A (p.Gln634=)
|
rs1594883867
|
|
NM_013382.7(POMT2):c.1908G>A (p.Leu636=)
|
|
|
NM_013382.7(POMT2):c.1909C>T (p.Leu637Phe)
|
rs2140162404
|
|
NM_013382.7(POMT2):c.190G>T (p.Val64Leu)
|
|
|
NM_013382.7(POMT2):c.1911_1912delinsGT (p.Arg638Ter)
|
|
|
NM_013382.7(POMT2):c.1911_1934del (p.Arg638_Leu645del)
|
|
|
NM_013382.7(POMT2):c.1917A>G (p.Gly639=)
|
|
|
NM_013382.7(POMT2):c.1926G>A (p.Gln642=)
|
|
|
NM_013382.7(POMT2):c.1927G>A (p.Val643Ile)
|
|
|
NM_013382.7(POMT2):c.1927_1943del (p.Val643fs)
|
|
|
NM_013382.7(POMT2):c.1935C>A (p.Leu645=)
|
rs141193672
|
|
NM_013382.7(POMT2):c.1941G>A (p.Trp647Ter)
|
rs267606963
|
|
NM_013382.7(POMT2):c.1944A>C (p.Thr648=)
|
|
|
NM_013382.7(POMT2):c.1953C>T (p.Tyr651=)
|
|
|
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu)
|
rs794727228
|
|
NM_013382.7(POMT2):c.1959G>T (p.Pro653=)
|
|
|
NM_013382.7(POMT2):c.1967del (p.Leu656fs)
|
|
|
NM_013382.7(POMT2):c.1981del (p.Leu661fs)
|
|
|
NM_013382.7(POMT2):c.1983C>T (p.Leu661=)
|
rs1057523411
|
|
NM_013382.7(POMT2):c.1986C>T (p.Tyr662=)
|
|
|
NM_013382.7(POMT2):c.198G>C (p.Leu66=)
|
|
|
NM_013382.7(POMT2):c.1992C>T (p.His664=)
|
rs143329994
|
|
NM_013382.7(POMT2):c.1995C>T (p.His665=)
|
|
|
NM_013382.7(POMT2):c.1998C>T (p.Tyr666=)
|
|
|
NM_013382.7(POMT2):c.2001C>G (p.Phe667Leu)
|
|
|
NM_013382.7(POMT2):c.2004A>C (p.Pro668=)
|
rs750930174
|
|
NM_013382.7(POMT2):c.2021dup (p.Ser674fs)
|
|
|
NM_013382.7(POMT2):c.2022C>T (p.Ser674=)
|
rs1566642798
|
|
NM_013382.7(POMT2):c.2023A>G (p.Met675Val)
|
rs2140161882
|
|
NM_013382.7(POMT2):c.2024T>C (p.Met675Thr)
|
|
|
NM_013382.7(POMT2):c.2030C>A (p.Thr677Lys)
|
rs2140161863
|
|
NM_013382.7(POMT2):c.2030C>T (p.Thr677Ile)
|
|
|
NM_013382.7(POMT2):c.2032+14A>C
|
|
|
NM_013382.7(POMT2):c.2032+15C>T
|
rs1380951819
|
|
NM_013382.7(POMT2):c.2032+19G>T
|
rs1300533131
|
|
NM_013382.7(POMT2):c.2032+1G>A
|
rs2140161850
|
|
NM_013382.7(POMT2):c.2032+20_2032+25del
|
|
|
NM_013382.7(POMT2):c.2032+8C>T
|
|
|
NM_013382.7(POMT2):c.2033-11C>T
|
|
|
NM_013382.7(POMT2):c.2033-14C>G
|
|
|
NM_013382.7(POMT2):c.2033-14C>T
|
|
|
NM_013382.7(POMT2):c.2033-15T>C
|
|
|
NM_013382.7(POMT2):c.2033-18T>C
|
|
|
NM_013382.7(POMT2):c.2033-7C>A
|
|
|
NM_013382.7(POMT2):c.2034C>T (p.Gly678=)
|
|
|
NM_013382.7(POMT2):c.2035A>G (p.Ile679Val)
|
|
|
NM_013382.7(POMT2):c.2048C>A (p.Thr683Asn)
|
|
|
NM_013382.7(POMT2):c.2049C>T (p.Thr683=)
|
|
|
NM_013382.7(POMT2):c.2055G>A (p.Leu685=)
|
|
|
NM_013382.7(POMT2):c.2061C>T (p.Leu687=)
|
|
|
NM_013382.7(POMT2):c.2064T>A (p.Cys688Ter)
|
|
|
NM_013382.7(POMT2):c.2074T>C (p.Leu692=)
|
|
|
NM_013382.7(POMT2):c.2079C>T (p.Ala693=)
|
|
|
NM_013382.7(POMT2):c.2082A>C (p.Ser694=)
|
|
|
NM_013382.7(POMT2):c.2082A>G (p.Ser694=)
|
|
|
NM_013382.7(POMT2):c.2082A>T (p.Ser694=)
|
|
|
NM_013382.7(POMT2):c.2083T>C (p.Trp695Arg)
|
rs139308429
|
|
NM_013382.7(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer)
|
rs1566642523
|
|
NM_013382.7(POMT2):c.2088C>T (p.Pro696=)
|
|
|
NM_013382.7(POMT2):c.2094G>A (p.Ala698=)
|
|
|
NM_013382.7(POMT2):c.2101A>T (p.Ile701Leu)
|
rs146367996
|
|
NM_013382.7(POMT2):c.2121G>A (p.Leu707=)
|
|
|
NM_013382.7(POMT2):c.2121G>C (p.Leu707=)
|
|
|
NM_013382.7(POMT2):c.2125C>G (p.Leu709Val)
|
|
|
NM_013382.7(POMT2):c.2128C>G (p.Leu710Val)
|
rs2140160442
|
|
NM_013382.7(POMT2):c.2130C>T (p.Leu710=)
|
|
|
NM_013382.7(POMT2):c.213C>T (p.Thr71=)
|
|
|
NM_013382.7(POMT2):c.2142C>A (p.Ala714=)
|
|
|
NM_013382.7(POMT2):c.2142C>T (p.Ala714=)
|
|
|
NM_013382.7(POMT2):c.2145C>T (p.Tyr715=)
|
|
|
NM_013382.7(POMT2):c.2146A>T (p.Ser716Cys)
|
|
|
NM_013382.7(POMT2):c.2147+10T>G
|
|
|
NM_013382.7(POMT2):c.2147+13G>A
|
|
|
NM_013382.7(POMT2):c.2147+14C>T
|
|
|
NM_013382.7(POMT2):c.2147+15A>G
|
|
|
NM_013382.7(POMT2):c.2147+1G>A
|
|
|
NM_013382.7(POMT2):c.2147+1del
|
|
|
NM_013382.7(POMT2):c.2148-14G>A
|
|
|
NM_013382.7(POMT2):c.2148-20C>T
|
|
|
NM_013382.7(POMT2):c.2151C>T (p.Phe717=)
|
|
|
NM_013382.7(POMT2):c.2159del (p.Phe720fs)
|
rs1890013661
|
|
NM_013382.7(POMT2):c.2161C>T (p.His721Tyr)
|
rs2140157155
|
|
NM_013382.7(POMT2):c.2163C>T (p.His721=)
|
|
|
NM_013382.7(POMT2):c.2164C>T (p.Pro722Ser)
|
rs1890012951
|
|
NM_013382.7(POMT2):c.2166T>C (p.Pro722=)
|
|
|
NM_013382.7(POMT2):c.2177G>A (p.Gly726Glu)
|
rs267606969
|
|
NM_013382.7(POMT2):c.2182G>A (p.Val728Ile)
|
rs1367401943
|
|
NM_013382.7(POMT2):c.2190C>T (p.Pro730=)
|
|
|
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)
|
rs1452558347
|
|
NM_013382.7(POMT2):c.2197del (p.Gln733fs)
|
rs1292248431
|
|
NM_013382.7(POMT2):c.219C>T (p.Phe73=)
|
|
|
NM_013382.7(POMT2):c.2205C>A (p.Pro735=)
|
|
|
NM_013382.7(POMT2):c.220C>T (p.His74Tyr)
|
rs1398447748
|
|
NM_013382.7(POMT2):c.2214A>G (p.Pro738=)
|
rs2140156918
|
|
NM_013382.7(POMT2):c.2223A>G (p.Gly741=)
|
rs554801559
|
|
NM_013382.7(POMT2):c.2228G>T (p.Arg743Met)
|
rs767359121
|
|
NM_013382.7(POMT2):c.2241A>G (p.Ser747=)
|
|
|
NM_013382.7(POMT2):c.2241A>T (p.Ser747=)
|
rs751053480
|
|
NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg)
|
rs267606964
|
|
NM_013382.7(POMT2):c.2243G>C (p.Trp748Ser)
|
rs267606967
|
|
NM_013382.7(POMT2):c.224G>C (p.Arg75Pro)
|
rs1200964688
|
|
NM_013382.7(POMT2):c.2251T>C (p.Ter751Arg)
|
rs1423335226
|
|
NM_013382.7(POMT2):c.227T>A (p.Leu76Ter)
|
|
|
NM_013382.7(POMT2):c.231C>T (p.Asp77=)
|
rs1378921614
|
|
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)
|
rs151103906
|
|
NM_013382.7(POMT2):c.234G>A (p.Glu78=)
|
|
|
NM_013382.7(POMT2):c.239C>T (p.Pro80Leu)
|
rs1195398546
|
|
NM_013382.7(POMT2):c.242A>C (p.His81Pro)
|
rs746662519
|
|
NM_013382.7(POMT2):c.242A>G (p.His81Arg)
|
rs746662519
|
|
NM_013382.7(POMT2):c.248+13A>C
|
|
|
NM_013382.7(POMT2):c.248+15G>T
|
|
|
NM_013382.7(POMT2):c.248+16G>T
|
rs1891826465
|
|
NM_013382.7(POMT2):c.248+18C>A
|
|
|
NM_013382.7(POMT2):c.248+19T>A
|
|
|
NM_013382.7(POMT2):c.248+1G>A
|
|
|
NM_013382.7(POMT2):c.248+1G>T
|
|
|
NM_013382.7(POMT2):c.248+5G>A
|
|
|
NM_013382.7(POMT2):c.249-11G>A
|
|
|
NM_013382.7(POMT2):c.249-15C>T
|
|
|
NM_013382.7(POMT2):c.249-16T>C
|
|
|
NM_013382.7(POMT2):c.249-18T>C
|
|
|
NM_013382.7(POMT2):c.249-19C>G
|
|
|
NM_013382.7(POMT2):c.249-19C>T
|
|
|
NM_013382.7(POMT2):c.249-8dup
|
rs1891454173
|
|
NM_013382.7(POMT2):c.253del (p.Asp85fs)
|
|
|
NM_013382.7(POMT2):c.25C>T (p.Leu9=)
|
rs1280735533
|
|
NM_013382.7(POMT2):c.260C>G (p.Thr87Ser)
|
|
|
NM_013382.7(POMT2):c.261T>C (p.Thr87=)
|
|
|
NM_013382.7(POMT2):c.270A>C (p.Gly90=)
|
|
|
NM_013382.7(POMT2):c.278G>A (p.Gly93Glu)
|
rs1891452198
|
|
NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)
|
|
|
NM_013382.7(POMT2):c.288T>C (p.Tyr96=)
|
rs2139518411
|
|
NM_013382.7(POMT2):c.292A>C (p.Asn98His)
|
|
|
NM_013382.7(POMT2):c.297T>C (p.Arg99=)
|
|
|
NM_013382.7(POMT2):c.30A>G (p.Ala10=)
|
rs2139552052
|
|
NM_013382.7(POMT2):c.318C>T (p.His106=)
|
rs2139518201
|
|
NM_013382.7(POMT2):c.321G>A (p.Pro107=)
|
rs756802962
|
|
NM_013382.7(POMT2):c.322C>T (p.Pro108Ser)
|
rs1555355402
|
|
NM_013382.7(POMT2):c.324C>T (p.Pro108=)
|
|
|
NM_013382.7(POMT2):c.329G>A (p.Gly110Glu)
|
rs1891447838
|
|
NM_013382.7(POMT2):c.332A>G (p.Lys111Arg)
|
|
|
NM_013382.7(POMT2):c.333+10G>A
|
|
|
NM_013382.7(POMT2):c.333+18T>A
|
|
|
NM_013382.7(POMT2):c.333+1G>T
|
|
|
NM_013382.7(POMT2):c.334-13C>A
|
|
|
NM_013382.7(POMT2):c.334-16G>A
|
|
|
NM_013382.7(POMT2):c.334-3C>A
|
rs1566658848
|
|
NM_013382.7(POMT2):c.334-8C>G
|
|
|
NM_013382.7(POMT2):c.33G>A (p.Glu11=)
|
rs776638993
|
|
NM_013382.7(POMT2):c.344G>C (p.Gly115Ala)
|
rs1594800236
|
|
NM_013382.7(POMT2):c.346C>T (p.Leu116Phe)
|
rs1594800231
|
|
NM_013382.7(POMT2):c.35C>T (p.Ser12Phe)
|
rs1891855792
|
|
NM_013382.7(POMT2):c.369T>C (p.Tyr123=)
|
|
|
NM_013382.7(POMT2):c.36C>T (p.Ser12=)
|
rs771074829
|
|
NM_013382.7(POMT2):c.382T>C (p.Leu128=)
|
|
|
NM_013382.7(POMT2):c.383del (p.Leu128fs)
|
|
|
NM_013382.7(POMT2):c.389A>G (p.Gln130Arg)
|
rs758643051
|
|
NM_013382.7(POMT2):c.393G>A (p.Lys131=)
|
|
|
NM_013382.7(POMT2):c.399G>A (p.Gly133=)
|
|
|
NM_013382.7(POMT2):c.406T>C (p.Tyr136His)
|
rs1891230114
|
|
NM_013382.7(POMT2):c.411G>A (p.Glu137=)
|
|
|
NM_013382.7(POMT2):c.416A>G (p.His139Arg)
|
rs1594800188
|
|
NM_013382.7(POMT2):c.435_438dup (p.Phe147fs)
|
|
|
NM_013382.7(POMT2):c.438+12T>A
|
rs2139500656
|
|
NM_013382.7(POMT2):c.438+16T>C
|
|
|
NM_013382.7(POMT2):c.438+16T>G
|
|
|
NM_013382.7(POMT2):c.439-18del
|
|
|
NM_013382.7(POMT2):c.439-6C>T
|
|
|
NM_013382.7(POMT2):c.447A>G (p.Ala149=)
|
|
|
NM_013382.7(POMT2):c.450C>T (p.Phe150=)
|
|
|
NM_013382.7(POMT2):c.46C>T (p.Pro16Ser)
|
rs747944127
|
|
NM_013382.7(POMT2):c.471C>T (p.Pro157=)
|
|
|
NM_013382.7(POMT2):c.475G>T (p.Ala159Ser)
|
|
|
NM_013382.7(POMT2):c.477C>G (p.Ala159=)
|
|
|
NM_013382.7(POMT2):c.50G>A (p.Arg17Gln)
|
rs753326186
|
|
NM_013382.7(POMT2):c.513G>A (p.Ser171=)
|
|
|
NM_013382.7(POMT2):c.51G>A (p.Arg17=)
|
rs1891853487
|
|
NM_013382.7(POMT2):c.521T>C (p.Leu174Pro)
|
rs1891164358
|
|
NM_013382.7(POMT2):c.524_533del (p.Leu175fs)
|
|
|
NM_013382.7(POMT2):c.530C>T (p.Ala177Val)
|
|
|
NM_013382.7(POMT2):c.533C>A (p.Ala178Asp)
|
|
|
NM_013382.7(POMT2):c.543C>T (p.Thr181=)
|
rs2139493837
|
|
NM_013382.7(POMT2):c.547+10C>T
|
|
|
NM_013382.7(POMT2):c.547+12T>C
|
|
|
NM_013382.7(POMT2):c.547+14G>T
|
rs1404659015
|
|
NM_013382.7(POMT2):c.547+16del
|
|
|
NM_013382.7(POMT2):c.547+5G>A
|
rs773914478
|
|
NM_013382.7(POMT2):c.548-11A>G
|
|
|
NM_013382.7(POMT2):c.548-14C>T
|
|
|
NM_013382.7(POMT2):c.548-16A>G
|
|
|
NM_013382.7(POMT2):c.548-2A>G
|
|
|
NM_013382.7(POMT2):c.548-9G>A
|
rs1891100155
|
|
NM_013382.7(POMT2):c.548A>G (p.Asp183Gly)
|
rs1891099770
|
|
NM_013382.7(POMT2):c.54G>A (p.Arg18=)
|
|
|
NM_013382.7(POMT2):c.552G>A (p.Thr184=)
|
|
|
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe)
|
rs398124265
|
|
NM_013382.7(POMT2):c.564T>C (p.Thr188=)
|
|
|
NM_013382.7(POMT2):c.567G>A (p.Leu189=)
|
rs780313126
|
|
NM_013382.7(POMT2):c.583C>G (p.Leu195Val)
|
rs2139487023
|
|
NM_013382.7(POMT2):c.586G>A (p.Asp196Asn)
|
rs1200584567
|
|
NM_013382.7(POMT2):c.587A>T (p.Asp196Val)
|
rs745591622
|
|
NM_013382.7(POMT2):c.58C>T (p.Arg20Cys)
|
rs750127630
|
|
NM_013382.7(POMT2):c.591C>T (p.Pro197=)
|
|
|
NM_013382.7(POMT2):c.594C>T (p.Ile198=)
|
|
|
NM_013382.7(POMT2):c.595C>T (p.Leu199=)
|
|
|
NM_013382.7(POMT2):c.60C>A (p.Arg20=)
|
|
|
NM_013382.7(POMT2):c.620T>C (p.Met207Thr)
|
rs1326409250
|
|
NM_013382.7(POMT2):c.624G>A (p.Leu208=)
|
|
|
NM_013382.7(POMT2):c.627C>T (p.Ser209=)
|
|
|
NM_013382.7(POMT2):c.636G>C (p.Lys212Asn)
|
rs368906346
|
|
NM_013382.7(POMT2):c.639C>T (p.Tyr213=)
|
|
|
NM_013382.7(POMT2):c.642C>A (p.Asn214Lys)
|
rs1594797659
|
|
NM_013382.7(POMT2):c.645T>C (p.Ser215=)
|
|
|
NM_013382.7(POMT2):c.648C>A (p.Cys216Ter)
|
rs147871747
|
|
NM_013382.7(POMT2):c.654C>T (p.Asp218=)
|
|
|
NM_013382.7(POMT2):c.655A>G (p.Arg219Gly)
|
|
|
NM_013382.7(POMT2):c.656+10T>A
|
|
|
NM_013382.7(POMT2):c.656+17C>T
|
|
|
NM_013382.7(POMT2):c.656+18C>T
|
|
|
NM_013382.7(POMT2):c.656+19G>A
|
|
|
NM_013382.7(POMT2):c.656+1G>A
|
|
|
NM_013382.7(POMT2):c.656+20G>T
|
|
|
NM_013382.7(POMT2):c.656+9C>G
|
|
|
NM_013382.7(POMT2):c.657-14T>A
|
|
|
NM_013382.7(POMT2):c.657-15C>T
|
|
|
NM_013382.7(POMT2):c.657-17G>A
|
|
|
NM_013382.7(POMT2):c.657-18C>A
|
|
|
NM_013382.7(POMT2):c.657-18_657-15del
|
|
|
NM_013382.7(POMT2):c.657-20T>G
|
rs1032925016
|
|
NM_013382.7(POMT2):c.657-3C>T
|
rs2139480952
|
|
NM_013382.7(POMT2):c.657-4T>G
|
|
|
NM_013382.7(POMT2):c.657-4del
|
rs777481709
|
|
NM_013382.7(POMT2):c.657-7dup
|
rs777481709
|
|
NM_013382.7(POMT2):c.657-9G>C
|
rs1359971151
|
|
NM_013382.7(POMT2):c.658C>T (p.Pro220Ser)
|
rs771201662
|
|
NM_013382.7(POMT2):c.659C>T (p.Pro220Leu)
|
rs1555354184
|
|
NM_013382.7(POMT2):c.671C>T (p.Pro224Leu)
|
|
|
NM_013382.7(POMT2):c.672del (p.Trp225fs)
|
rs1566656247
|
|
NM_013382.7(POMT2):c.673del (p.Trp225fs)
|
rs1594796439
|
|
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter)
|
rs778947923
|
|
NM_013382.7(POMT2):c.678del (p.Trp226fs)
|
rs755660222
|
|
NM_013382.7(POMT2):c.68C>G (p.Pro23Arg)
|
rs2139551576
|
|
NM_013382.7(POMT2):c.690C>G (p.Ser230Arg)
|
|
|
NM_013382.7(POMT2):c.690C>T (p.Ser230=)
|
rs895876912
|
|
NM_013382.7(POMT2):c.6G>C (p.Pro2=)
|
|
|
NM_013382.7(POMT2):c.70dup (p.Gln24fs)
|
|
|
NM_013382.7(POMT2):c.717T>G (p.Ala239=)
|
|
|
NM_013382.7(POMT2):c.737G>A (p.Gly246Asp)
|
rs267606966
|
|
NM_013382.7(POMT2):c.741C>G (p.Leu247=)
|
|
|
NM_013382.7(POMT2):c.745A>G (p.Ile249Val)
|
rs1337866102
|
|
NM_013382.7(POMT2):c.74C>T (p.Ala25Val)
|
|
|
NM_013382.7(POMT2):c.758T>G (p.Val253Gly)
|
rs760828168
|
|
NM_013382.7(POMT2):c.763C>G (p.Leu255Val)
|
rs1048633441
|
|
NM_013382.7(POMT2):c.767A>T (p.Asn256Ile)
|
rs1891021273
|
|
NM_013382.7(POMT2):c.768C>T (p.Asn256=)
|
|
|
NM_013382.7(POMT2):c.773T>C (p.Ile258Thr)
|
|
|
NM_013382.7(POMT2):c.780C>A (p.Asp260Glu)
|
|
|
NM_013382.7(POMT2):c.780C>T (p.Asp260=)
|
rs2139480330
|
|
NM_013382.7(POMT2):c.781C>T (p.Leu261Phe)
|
|
|
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
|
|
|
NM_013382.7(POMT2):c.790C>T (p.Leu264=)
|
|
|
NM_013382.7(POMT2):c.791del (p.Leu264fs)
|
rs1891020302
|
|
NM_013382.7(POMT2):c.795C>G (p.Phe265Leu)
|
rs765276419
|
|
NM_013382.7(POMT2):c.7C>G (p.Pro3Ala)
|
rs1342953034
|
|
NM_013382.7(POMT2):c.814T>C (p.Leu272=)
|
|
|
NM_013382.7(POMT2):c.816+14G>C
|
|
|
NM_013382.7(POMT2):c.816+1G>T
|
|
|
NM_013382.7(POMT2):c.817-10C>G
|
rs942797478
|
|
NM_013382.7(POMT2):c.817-14G>C
|
|
|
NM_013382.7(POMT2):c.817-20A>G
|
rs1566655273
|
|
NM_013382.7(POMT2):c.824_825del (p.Val275fs)
|
|
|
NM_013382.7(POMT2):c.827G>A (p.Gly276Glu)
|
rs1890947139
|
|
NM_013382.7(POMT2):c.836T>A (p.Leu279Gln)
|
rs1890946815
|
|
NM_013382.7(POMT2):c.843T>G (p.Ala281=)
|
|
|
NM_013382.7(POMT2):c.844C>G (p.Arg282Gly)
|
|
|
NM_013382.7(POMT2):c.849C>T (p.Val283=)
|
|
|
NM_013382.7(POMT2):c.855C>G (p.Cys285Trp)
|
|
|
NM_013382.7(POMT2):c.855C>T (p.Cys285=)
|
|
|
NM_013382.7(POMT2):c.85G>A (p.Ala29Thr)
|
|
|
NM_013382.7(POMT2):c.85G>T (p.Ala29Ser)
|
|
|
NM_013382.7(POMT2):c.866T>G (p.Leu289Arg)
|
rs2139473885
|
|
NM_013382.7(POMT2):c.870C>T (p.Pro290=)
|
|
|
NM_013382.7(POMT2):c.874G>C (p.Ala292Pro)
|
rs1312138776
|
|
NM_013382.7(POMT2):c.879C>G (p.Leu293=)
|
rs2139473776
|
|
NM_013382.7(POMT2):c.879_880del (p.Thr295fs)
|
rs752440109
|
|
NM_013382.7(POMT2):c.87A>G (p.Ala29=)
|
|
|
NM_013382.7(POMT2):c.87A>T (p.Ala29=)
|
rs794726937
|
|
NM_013382.7(POMT2):c.884C>G (p.Thr295Arg)
|
rs794727871
|
|
NM_013382.7(POMT2):c.884C>T (p.Thr295Ile)
|
rs794727871
|
|
NM_013382.7(POMT2):c.894T>C (p.Phe298=)
|
|
|
NM_013382.7(POMT2):c.895G>A (p.Ala299Thr)
|
|
|
NM_013382.7(POMT2):c.903C>T (p.His301=)
|
|
|
NM_013382.7(POMT2):c.90C>G (p.Gly30=)
|
|
|
NM_013382.7(POMT2):c.90C>T (p.Gly30=)
|
rs923004188
|
|
NM_013382.7(POMT2):c.917G>A (p.Ser306Asn)
|
|
|
NM_013382.7(POMT2):c.923+12G>A
|
|
|
NM_013382.7(POMT2):c.923+12G>T
|
|
|
NM_013382.7(POMT2):c.923+19C>A
|
|
|
NM_013382.7(POMT2):c.923+20A>G
|
|
|
NM_013382.7(POMT2):c.923+5A>G
|
|
|
NM_013382.7(POMT2):c.923+7A>G
|
rs2139473467
|
|
NM_013382.7(POMT2):c.923+8C>T
|
|
|
NM_013382.7(POMT2):c.923+8_923+11del
|
rs1272206712
|
|
NM_013382.7(POMT2):c.924-12C>G
|
|
|
NM_013382.7(POMT2):c.924-12C>T
|
|
|
NM_013382.7(POMT2):c.924-16C>T
|
|
|
NM_013382.7(POMT2):c.924-2A>C
|
rs886044256
|
|
NM_013382.7(POMT2):c.924-2A>G
|
rs886044256
|
|
NM_013382.7(POMT2):c.924-4A>G
|
|
|
NM_013382.7(POMT2):c.924-5C>A
|
|
|
NM_013382.7(POMT2):c.924-7C>T
|
|
|
NM_013382.7(POMT2):c.927C>T (p.Gly309=)
|
|
|
NM_013382.7(POMT2):c.929C>T (p.Pro310Leu)
|
|
|
NM_013382.7(POMT2):c.936C>G (p.Asp312Glu)
|
rs186690580
|
|
NM_013382.7(POMT2):c.937G>A (p.Gly313Ser)
|
|
|
NM_013382.7(POMT2):c.957C>G (p.Phe319Leu)
|
|
|
NM_013382.7(POMT2):c.970T>C (p.Ser324Pro)
|
|
|
NM_013382.7(POMT2):c.981C>T (p.Asn327=)
|
rs747147327
|
|
NM_013382.7(POMT2):c.985C>T (p.His329Tyr)
|
rs2139470461
|
|
NM_013382.7(POMT2):c.989A>G (p.Asn330Ser)
|
|
|
NM_013382.7(POMT2):c.990T>C (p.Asn330=)
|
|
|
NM_013382.7(POMT2):c.997A>G (p.Ile333Val)
|
rs1890917117
|
|
NM_013382.7(POMT2):c.9G>A (p.Pro3=)
|
rs1594813347
|
|
NM_014254.3(RXYLT1):c.1019_1020delinsTT (p.Arg340Leu)
|
rs397514544
|
|
NM_014254.3(RXYLT1):c.1024del (p.Tyr342fs)
|
|
|
NM_014254.3(RXYLT1):c.139del (p.Ala47fs)
|
rs397514696
|
|
NM_014254.3(RXYLT1):c.169+2T>C
|
|
|
NM_014254.3(RXYLT1):c.233A>G (p.Gln78Arg)
|
|
|
NM_014254.3(RXYLT1):c.279del (p.Gly94fs)
|
rs397514546
|
|
NM_014254.3(RXYLT1):c.390G>A (p.Trp130Ter)
|
rs1565899712
|
|
NM_014254.3(RXYLT1):c.539G>T (p.Trp180Leu)
|
|
|
NM_014254.3(RXYLT1):c.920A>G (p.Gln307Arg)
|
rs866198592
|
|
NM_014254.3(RXYLT1):c.92G>T (p.Arg31Leu)
|
rs1897636551
|
|
NM_014254.3(RXYLT1):c.992C>T (p.Pro331Leu)
|
|
|
NM_016213.5(TRIP4):c.1065del (p.Ile356fs)
|
rs1891833492
|
|
NM_016213.5(TRIP4):c.1678+1_1678+2insC
|
rs2140313200
|
|
NM_016532.4(INPP5K):c.1247G>C (p.Ser416Thr)
|
rs777736302
|
|
NM_016532.4(INPP5K):c.1251_1252del (p.Asn417fs)
|
rs1060505040
|
|
NM_016532.4(INPP5K):c.149T>C (p.Ile50Thr)
|
rs1060505038
|
|
NM_016532.4(INPP5K):c.152+5G>T
|
|
|
NM_016532.4(INPP5K):c.165G>T (p.Leu55Phe)
|
|
|
NM_016532.4(INPP5K):c.277A>G (p.Met93Val)
|
rs1060505039
|
|
NM_016532.4(INPP5K):c.302T>C (p.Phe101Ser)
|
rs2075263105
|
|
NM_016532.4(INPP5K):c.32G>A (p.Gly11Asp)
|
|
|
NM_016532.4(INPP5K):c.419G>A (p.Gly140Asp)
|
rs2150989792
|
|
NM_016532.4(INPP5K):c.554+16del
|
rs5818804
|
|
NM_016532.4(INPP5K):c.653G>A (p.Trp218Ter)
|
|
|
NM_016532.4(INPP5K):c.753_756del (p.Arg251fs)
|
|
|
NM_016532.4(INPP5K):c.793C>T (p.Pro265Ser)
|
rs2150978746
|
|
NM_016532.4(INPP5K):c.809G>A (p.Arg270His)
|
|
|
NM_016532.4(INPP5K):c.899A>G (p.Tyr300Cys)
|
rs766046008
|
|
NM_016532.4(INPP5K):c.925A>G (p.Ser309Gly)
|
|
|
NM_017739.4(POMGNT1):c.*207G>A
|
rs1657534329
|
|
NM_017739.4(POMGNT1):c.*2A>T
|
rs1188540095
|
|
NM_017739.4(POMGNT1):c.*335_*361del
|
rs754791169
|
|
NM_017739.4(POMGNT1):c.*457C>T
|
rs1657513729
|
|
NM_017739.4(POMGNT1):c.*499G>A
|
rs866924336
|
|
NM_017739.4(POMGNT1):c.*513del
|
rs1553162438
|
|
NM_017739.4(POMGNT1):c.*5TCC[1]
|
rs780919404
|
|
NM_017739.4(POMGNT1):c.-144C>T
|
rs1571674193
|
|
NM_017739.4(POMGNT1):c.1001C>T (p.Thr334Ile)
|
rs1027415099
|
|
NM_017739.4(POMGNT1):c.1001_1002del (p.Thr334fs)
|
rs1571659306
|
|
NM_017739.4(POMGNT1):c.1002A>C (p.Thr334=)
|
|
|
NM_017739.4(POMGNT1):c.1006_1007dup (p.Ile337fs)
|
|
|
NM_017739.4(POMGNT1):c.1007T>C (p.Phe336Ser)
|
rs886046385
|
|
NM_017739.4(POMGNT1):c.1009A>G (p.Ile337Val)
|
|
|
NM_017739.4(POMGNT1):c.100G>A (p.Ala34Thr)
|
rs1658356810
|
|
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)
|
rs751254522
|
|
NM_017739.4(POMGNT1):c.1017CTA[1] (p.Tyr341del)
|
rs2148194204
|
|
NM_017739.4(POMGNT1):c.1022A>G (p.Tyr341Cys)
|
|
|
NM_017739.4(POMGNT1):c.1026+11C>T
|
|
|
NM_017739.4(POMGNT1):c.1026+12T>G
|
|
|
NM_017739.4(POMGNT1):c.1026+13_1026+14insC
|
|
|
NM_017739.4(POMGNT1):c.1026+14G>A
|
|
|
NM_017739.4(POMGNT1):c.1026+15G>A
|
|
|
NM_017739.4(POMGNT1):c.1026+16G>A
|
|
|
NM_017739.4(POMGNT1):c.1026+19del
|
rs762531635
|
|
NM_017739.4(POMGNT1):c.1026+19dup
|
|
|
NM_017739.4(POMGNT1):c.1026+3G>A
|
|
|
NM_017739.4(POMGNT1):c.1026+9G>A
|
rs2148194105
|
|
NM_017739.4(POMGNT1):c.1026+9G>C
|
rs2148194105
|
|
NM_017739.4(POMGNT1):c.1027-11A>G
|
rs1339767677
|
|
NM_017739.4(POMGNT1):c.1027-18A>C
|
rs1255998791
|
|
NM_017739.4(POMGNT1):c.1027-2_1027-1del
|
rs1057516536
|
|
NM_017739.4(POMGNT1):c.1027-4C>G
|
rs1325977866
|
|
NM_017739.4(POMGNT1):c.1027-4C>T
|
|
|
NM_017739.4(POMGNT1):c.1027-6C>T
|
|
|
NM_017739.4(POMGNT1):c.1027-9dup
|
|
|
NM_017739.4(POMGNT1):c.102C>T (p.Ala34=)
|
rs2148222428
|
|
NM_017739.4(POMGNT1):c.1031C>T (p.Pro344Leu)
|
|
|
NM_017739.4(POMGNT1):c.1036G>C (p.Asp346His)
|
rs754255569
|
|
NM_017739.4(POMGNT1):c.1041G>A (p.Val347=)
|
rs1422051418
|
|
NM_017739.4(POMGNT1):c.1042G>A (p.Val348Met)
|
rs2148192741
|
|
NM_017739.4(POMGNT1):c.1043dup (p.Ala349fs)
|
rs2148192725
|
|
NM_017739.4(POMGNT1):c.1047A>G (p.Ala349=)
|
|
|
NM_017739.4(POMGNT1):c.104T>A (p.Leu35Gln)
|
rs2148222413
|
|
NM_017739.4(POMGNT1):c.1050G>A (p.Leu350=)
|
rs886043076
|
|
NM_017739.4(POMGNT1):c.1050G>T (p.Leu350=)
|
rs886043076
|
|
NM_017739.4(POMGNT1):c.1055G>A (p.Gly352Asp)
|
rs1195736220
|
|
NM_017739.4(POMGNT1):c.1055_1059del (p.Gly352fs)
|
|
|
NM_017739.4(POMGNT1):c.1059G>A (p.Leu353=)
|
|
|
NM_017739.4(POMGNT1):c.1064G>A (p.Gly355Asp)
|
rs2148192555
|
|
NM_017739.4(POMGNT1):c.1065C>T (p.Gly355=)
|
|
|
NM_017739.4(POMGNT1):c.106_107del (p.Arg36fs)
|
|
|
NM_017739.4(POMGNT1):c.1080C>A (p.Pro360=)
|
|
|
NM_017739.4(POMGNT1):c.1080C>T (p.Pro360=)
|
|
|
NM_017739.4(POMGNT1):c.1080del (p.Ile361fs)
|
rs2148192392
|
|
NM_017739.4(POMGNT1):c.1082T>C (p.Ile361Thr)
|
rs1553163380
|
|
NM_017739.4(POMGNT1):c.1085G>C (p.Ser362Thr)
|
|
|
NM_017739.4(POMGNT1):c.108G>A (p.Arg36=)
|
|
|
NM_017739.4(POMGNT1):c.1091A>G (p.Lys364Arg)
|
rs1557673272
|
|
NM_017739.4(POMGNT1):c.1095T>C (p.Asn365=)
|
|
|
NM_017739.4(POMGNT1):c.1096del (p.Ala366fs)
|
|
|
NM_017739.4(POMGNT1):c.10del (p.Trp4fs)
|
rs1571672866
|
|
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs)
|
rs1553163360
|
|
NM_017739.4(POMGNT1):c.1109A>T (p.Gln370Leu)
|
|
|
NM_017739.4(POMGNT1):c.1110+1G>T
|
|
|
NM_017739.4(POMGNT1):c.1110+3A>G
|
|
|
NM_017739.4(POMGNT1):c.1110+5T>A
|
|
|
NM_017739.4(POMGNT1):c.1110+8A>G
|
|
|
NM_017739.4(POMGNT1):c.1111-10C>A
|
rs1277266739
|
|
NM_017739.4(POMGNT1):c.1111-11C>T
|
|
|
NM_017739.4(POMGNT1):c.1111-12C>T
|
rs369760788
|
|
NM_017739.4(POMGNT1):c.1111-14C>T
|
|
|
NM_017739.4(POMGNT1):c.1111-16C>T
|
|
|
NM_017739.4(POMGNT1):c.1111-1G>A
|
|
|
NM_017739.4(POMGNT1):c.1111-4C>G
|
rs1027899021
|
|
NM_017739.4(POMGNT1):c.1111-7C>T
|
rs1414733588
|
|
NM_017739.4(POMGNT1):c.1111-8_1119del
|
|
|
NM_017739.4(POMGNT1):c.1111-9C>A
|
rs757533535
|
|
NM_017739.4(POMGNT1):c.1113del (p.Tyr372fs)
|
rs1057517369
|
|
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln)
|
rs752591703
|
|
NM_017739.4(POMGNT1):c.1117A>T (p.Lys373Ter)
|
|
|
NM_017739.4(POMGNT1):c.1119G>A (p.Lys373=)
|
rs2148191353
|
|
NM_017739.4(POMGNT1):c.1122C>A (p.Ala374=)
|
|
|
NM_017739.4(POMGNT1):c.1128C>T (p.Leu376=)
|
rs2148191342
|
|
NM_017739.4(POMGNT1):c.1132G>A (p.Ala378Thr)
|
|
|
NM_017739.4(POMGNT1):c.1137T>C (p.Thr379=)
|
rs2148191281
|
|
NM_017739.4(POMGNT1):c.1140C>A (p.Phe380Leu)
|
|
|
NM_017739.4(POMGNT1):c.1142A>C (p.Asn381Thr)
|
rs140846775
|
|
NM_017739.4(POMGNT1):c.1143C>T (p.Asn381=)
|
rs1657925003
|
|
NM_017739.4(POMGNT1):c.1149T>G (p.Phe383Leu)
|
rs2148191200
|
|
NM_017739.4(POMGNT1):c.114C>T (p.Phe38=)
|
rs574593030
|
|
NM_017739.4(POMGNT1):c.1152+10A>T
|
rs2148191095
|
|
NM_017739.4(POMGNT1):c.1152+12G>C
|
|
|
NM_017739.4(POMGNT1):c.1152+13G>T
|
|
|
NM_017739.4(POMGNT1):c.1152+14_1152+27del
|
|
|
NM_017739.4(POMGNT1):c.1152+1G>A
|
rs1474858292
|
|
NM_017739.4(POMGNT1):c.1152+3G>A
|
rs1657923881
|
|
NM_017739.4(POMGNT1):c.1153-10C>T
|
|
|
NM_017739.4(POMGNT1):c.1153-13A>G
|
|
|
NM_017739.4(POMGNT1):c.1153-13_1153-8del
|
rs2148189751
|
|
NM_017739.4(POMGNT1):c.1153-18G>A
|
|
|
NM_017739.4(POMGNT1):c.1153-19T>C
|
|
|
NM_017739.4(POMGNT1):c.1153-1G>C
|
rs1657900739
|
|
NM_017739.4(POMGNT1):c.1153-20A>G
|
|
|
NM_017739.4(POMGNT1):c.1153-20A>T
|
|
|
NM_017739.4(POMGNT1):c.1153-4C>T
|
|
|
NM_017739.4(POMGNT1):c.1153-4_1153-1del
|
|
|
NM_017739.4(POMGNT1):c.1153-5T>G
|
|
|
NM_017739.4(POMGNT1):c.1153-7C>T
|
rs2148189712
|
|
NM_017739.4(POMGNT1):c.1153-8C>G
|
rs1557672738
|
|
NM_017739.4(POMGNT1):c.1153G>C (p.Glu385Gln)
|
rs2148189653
|
|
NM_017739.4(POMGNT1):c.1153G>T (p.Glu385Ter)
|
rs2148189653
|
|
NM_017739.4(POMGNT1):c.1154A>T (p.Glu385Val)
|
rs1657900516
|
|
NM_017739.4(POMGNT1):c.115T>C (p.Cys39Arg)
|
|
|
NM_017739.4(POMGNT1):c.1160A>G (p.Lys387Arg)
|
rs1351958771
|
|
NM_017739.4(POMGNT1):c.1165G>T (p.Ala389Ser)
|
rs374639571
|
|
NM_017739.4(POMGNT1):c.1168G>A (p.Val390Met)
|
rs779045970
|
|
NM_017739.4(POMGNT1):c.116G>C (p.Cys39Ser)
|
rs775392834
|
|
NM_017739.4(POMGNT1):c.1176G>A (p.Leu392=)
|
|
|
NM_017739.4(POMGNT1):c.1186C>T (p.Leu396=)
|
|
|
NM_017739.4(POMGNT1):c.1188G>A (p.Leu396=)
|
rs1657896660
|
|
NM_017739.4(POMGNT1):c.1188G>C (p.Leu396=)
|
|
|
NM_017739.4(POMGNT1):c.1191C>T (p.Asp397=)
|
|
|
NM_017739.4(POMGNT1):c.120+10T>C
|
rs1658352895
|
|
NM_017739.4(POMGNT1):c.120+16A>G
|
|
|
NM_017739.4(POMGNT1):c.120+19C>T
|
|
|
NM_017739.4(POMGNT1):c.120+1G>A
|
|
|
NM_017739.4(POMGNT1):c.120+2T>A
|
rs1658353874
|
|
NM_017739.4(POMGNT1):c.120+4T>C
|
rs1223030962
|
|
NM_017739.4(POMGNT1):c.120+8G>A
|
|
|
NM_017739.4(POMGNT1):c.1201G>A (p.Asp401Asn)
|
rs1657895778
|
|
NM_017739.4(POMGNT1):c.1203T>C (p.Asp401=)
|
rs1437757660
|
|
NM_017739.4(POMGNT1):c.120G>A (p.Gln40=)
|
rs1658354104
|
|
NM_017739.4(POMGNT1):c.121-10C>G
|
|
|
NM_017739.4(POMGNT1):c.121-11C>T
|
|
|
NM_017739.4(POMGNT1):c.121-12C>A
|
rs754484485
|
|
NM_017739.4(POMGNT1):c.121-13C>A
|
|
|
NM_017739.4(POMGNT1):c.121-13C>T
|
|
|
NM_017739.4(POMGNT1):c.121-15T>C
|
|
|
NM_017739.4(POMGNT1):c.121-17C>A
|
|
|
NM_017739.4(POMGNT1):c.121-2A>G
|
rs1057516871
|
|
NM_017739.4(POMGNT1):c.121-3C>T
|
rs2148219601
|
|
NM_017739.4(POMGNT1):c.121-67_265del
|
rs1658278935
|
|
NM_017739.4(POMGNT1):c.121-67_265delinsTAG
|
|
|
NM_017739.4(POMGNT1):c.121-6C>A
|
rs558052679
|
|
NM_017739.4(POMGNT1):c.121-6C>T
|
rs558052679
|
|
NM_017739.4(POMGNT1):c.1211+14C>T
|
|
|
NM_017739.4(POMGNT1):c.1211+17G>C
|
|
|
NM_017739.4(POMGNT1):c.1211+6G>A
|
|
|
NM_017739.4(POMGNT1):c.1212-11G>C
|
|
|
NM_017739.4(POMGNT1):c.1212-14C>A
|
|
|
NM_017739.4(POMGNT1):c.1212-15C>T
|
|
|
NM_017739.4(POMGNT1):c.1212-16A>G
|
|
|
NM_017739.4(POMGNT1):c.1212-1G>A
|
rs1553163254
|
|
NM_017739.4(POMGNT1):c.1212-1G>C
|
rs1553163254
|
|
NM_017739.4(POMGNT1):c.1212-3C>G
|
|
|
NM_017739.4(POMGNT1):c.1212-3_1212-2del
|
rs1064797111
|
|
NM_017739.4(POMGNT1):c.1212-5C>T
|
rs2148187757
|
|
NM_017739.4(POMGNT1):c.1212-8T>C
|
|
|
NM_017739.4(POMGNT1):c.1215C>T (p.Phe405=)
|
rs1280101536
|
|
NM_017739.4(POMGNT1):c.1218G>C (p.Leu406=)
|
rs1211823122
|
|
NM_017739.4(POMGNT1):c.121A>G (p.Thr41Ala)
|
rs886046386
|
|
NM_017739.4(POMGNT1):c.1226C>A (p.Ser409Tyr)
|
rs1259024068
|
|
NM_017739.4(POMGNT1):c.1227C>T (p.Ser409=)
|
|
|
NM_017739.4(POMGNT1):c.1229_1232del (p.Ile410fs)
|
|
|
NM_017739.4(POMGNT1):c.1230C>T (p.Ile410=)
|
rs756026992
|
|
NM_017739.4(POMGNT1):c.1233C>T (p.His411=)
|
|
|
NM_017739.4(POMGNT1):c.1236A>C (p.Leu412=)
|
rs780965440
|
|
NM_017739.4(POMGNT1):c.1239G>T (p.Leu413=)
|
rs2148187443
|
|
NM_017739.4(POMGNT1):c.1255C>T (p.Leu419=)
|
|
|
NM_017739.4(POMGNT1):c.1264A>C (p.Ile422Leu)
|
rs1553163234
|
|
NM_017739.4(POMGNT1):c.1268C>T (p.Ser423Phe)
|
rs1571655768
|
|
NM_017739.4(POMGNT1):c.1269T>C (p.Ser423=)
|
rs763604454
|
|
NM_017739.4(POMGNT1):c.1272C>T (p.Ala424=)
|
|
|
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)
|
rs386834011
|
|
NM_017739.4(POMGNT1):c.127G>A (p.Ala43Thr)
|
|
|
NM_017739.4(POMGNT1):c.127G>C (p.Ala43Pro)
|
|
|
NM_017739.4(POMGNT1):c.1281C>T (p.Asp427=)
|
rs2148187177
|
|
NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter)
|
rs1657864516
|
|
NM_017739.4(POMGNT1):c.1284+11A>G
|
|
|
NM_017739.4(POMGNT1):c.1284+15C>T
|
|
|
NM_017739.4(POMGNT1):c.1284+18G>C
|
|
|
NM_017739.4(POMGNT1):c.1284+19G>C
|
|
|
NM_017739.4(POMGNT1):c.1284+20G>A
|
|
|
NM_017739.4(POMGNT1):c.1284+2_1284+19del
|
rs1057516409
|
|
NM_017739.4(POMGNT1):c.1284+3A>C
|
|
|
NM_017739.4(POMGNT1):c.1284+4G>A
|
rs2148187138
|
|
NM_017739.4(POMGNT1):c.1284+6C>T
|
|
|
NM_017739.4(POMGNT1):c.1285-10C>G
|
rs2148186332
|
|
NM_017739.4(POMGNT1):c.1285-13_1285-12del
|
|
|
NM_017739.4(POMGNT1):c.1285-14C>G
|
rs2148186436
|
|
NM_017739.4(POMGNT1):c.1285-17T>C
|
rs1205438093
|
|
NM_017739.4(POMGNT1):c.1285-18A>G
|
rs201073664
|
|
NM_017739.4(POMGNT1):c.1285-2A>G
|
rs386834012
|
|
NM_017739.4(POMGNT1):c.1285-2A>T
|
rs386834012
|
|
NM_017739.4(POMGNT1):c.1285-5C>T
|
|
|
NM_017739.4(POMGNT1):c.1286G>A (p.Gly429Glu)
|
|
|
NM_017739.4(POMGNT1):c.1286G>T (p.Gly429Val)
|
rs751274265
|
|
NM_017739.4(POMGNT1):c.1287G>A (p.Gly429=)
|
rs1263918453
|
|
NM_017739.4(POMGNT1):c.1287dup
|
|
|
NM_017739.4(POMGNT1):c.1290T>C (p.Tyr430=)
|
|
|
NM_017739.4(POMGNT1):c.1294C>G (p.His432Asp)
|
|
|
NM_017739.4(POMGNT1):c.1296C>T (p.His432=)
|
|
|
NM_017739.4(POMGNT1):c.129C>G (p.Ala43=)
|
|
|
NM_017739.4(POMGNT1):c.12del (p.Asp3_Trp4insTer)
|
|
|
NM_017739.4(POMGNT1):c.1300G>A (p.Ala434Thr)
|
rs2148186054
|
|
NM_017739.4(POMGNT1):c.1304_1305del (p.Glu435fs)
|
|
|
NM_017739.4(POMGNT1):c.1314A>G (p.Ala438=)
|
rs2148185956
|
|
NM_017739.4(POMGNT1):c.1319T>G (p.Leu440Arg)
|
rs386834013
|
|
NM_017739.4(POMGNT1):c.1320G>A (p.Leu440=)
|
rs1419629661
|
|
NM_017739.4(POMGNT1):c.1320G>C (p.Leu440=)
|
|
|
NM_017739.4(POMGNT1):c.132G>A (p.Val44=)
|
rs1658306175
|
|
NM_017739.4(POMGNT1):c.1332G>A (p.Glu444=)
|
|
|
NM_017739.4(POMGNT1):c.1332G>T (p.Glu444Asp)
|
rs2148185834
|
|
NM_017739.4(POMGNT1):c.1335del (p.Met446fs)
|
rs1553163206
|
|
NM_017739.4(POMGNT1):c.1338G>A (p.Met446Ile)
|
rs1571655190
|
|
NM_017739.4(POMGNT1):c.1341T>C (p.Pro447=)
|
rs764844715
|
|
NM_017739.4(POMGNT1):c.1343G>A (p.Gly448Glu)
|
|
|
NM_017739.4(POMGNT1):c.1344G>A (p.Gly448=)
|
rs183932527
|
|
NM_017739.4(POMGNT1):c.1344G>T (p.Gly448=)
|
rs183932527
|
|
NM_017739.4(POMGNT1):c.1345C>T (p.Leu449=)
|
|
|
NM_017739.4(POMGNT1):c.1347G>A (p.Leu449=)
|
|
|
NM_017739.4(POMGNT1):c.134T>A (p.Leu45His)
|
rs2148219431
|
|
NM_017739.4(POMGNT1):c.1350C>T (p.Gly450=)
|
|
|
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs)
|
rs386834015
|
|
NM_017739.4(POMGNT1):c.1352G>A (p.Trp451Ter)
|
|
|
NM_017739.4(POMGNT1):c.1363A>C (p.Arg455=)
|
|
|
NM_017739.4(POMGNT1):c.1365del (p.Arg455fs)
|
rs2148185606
|
|
NM_017739.4(POMGNT1):c.1371G>A (p.Leu457=)
|
|
|
NM_017739.4(POMGNT1):c.1373A>G (p.Tyr458Cys)
|
|
|
NM_017739.4(POMGNT1):c.1374C>G (p.Tyr458Ter)
|
|
|
NM_017739.4(POMGNT1):c.1374C>T (p.Tyr458=)
|
|
|
NM_017739.4(POMGNT1):c.1377G>C (p.Lys459Asn)
|
|
|
NM_017739.4(POMGNT1):c.137del (p.Phe46fs)
|
|
|
NM_017739.4(POMGNT1):c.1387G>C (p.Glu463Gln)
|
|
|
NM_017739.4(POMGNT1):c.1391C>T (p.Pro464Leu)
|
|
|
NM_017739.4(POMGNT1):c.1395G>C (p.Lys465Asn)
|
rs1657843296
|
|
NM_017739.4(POMGNT1):c.1397G>A (p.Trp466Ter)
|
|
|
NM_017739.4(POMGNT1):c.1398G>A (p.Trp466Ter)
|
|
|
NM_017739.4(POMGNT1):c.1402A>G (p.Thr468Ala)
|
|
|
NM_017739.4(POMGNT1):c.1403C>T (p.Thr468Ile)
|
rs2148185390
|
|
NM_017739.4(POMGNT1):c.1404A>G (p.Thr468=)
|
rs1469098458
|
|
NM_017739.4(POMGNT1):c.1406C>T (p.Pro469Leu)
|
rs769879467
|
|
NM_017739.4(POMGNT1):c.1411A>T (p.Lys471Ter)
|
|
|
NM_017739.4(POMGNT1):c.1413+14T>C
|
|
|
NM_017739.4(POMGNT1):c.1413+15A>C
|
|
|
NM_017739.4(POMGNT1):c.1413+17G>A
|
|
|
NM_017739.4(POMGNT1):c.1413+17G>T
|
|
|
NM_017739.4(POMGNT1):c.1413+18G>A
|
|
|
NM_017739.4(POMGNT1):c.1413+1G>C
|
rs587777821
|
|
NM_017739.4(POMGNT1):c.1413+1G>T
|
rs587777821
|
|
NM_017739.4(POMGNT1):c.1413+6T>G
|
rs1160554172
|
|
NM_017739.4(POMGNT1):c.1413+7G>C
|
rs372521038
|
|
NM_017739.4(POMGNT1):c.1414-18G>A
|
rs746924004
|
|
NM_017739.4(POMGNT1):c.1414-18G>T
|
|
|
NM_017739.4(POMGNT1):c.1414-19C>T
|
rs978565899
|
|
NM_017739.4(POMGNT1):c.1414-1G>T
|
|
|
NM_017739.4(POMGNT1):c.1414-2A>C
|
|
|
NM_017739.4(POMGNT1):c.1414-4C>T
|
rs1657831294
|
|
NM_017739.4(POMGNT1):c.1414-5G>C
|
rs778744226
|
|
NM_017739.4(POMGNT1):c.1414-7C>T
|
rs2148184559
|
|
NM_017739.4(POMGNT1):c.1414-9G>A
|
|
|
NM_017739.4(POMGNT1):c.1414C>A (p.Leu472Ile)
|
rs1253221637
|
|
NM_017739.4(POMGNT1):c.1416C>T (p.Leu472=)
|
rs2148184489
|
|
NM_017739.4(POMGNT1):c.141G>T (p.Leu47=)
|
rs2148219389
|
|
NM_017739.4(POMGNT1):c.1425G>A (p.Trp475Ter)
|
rs267606961
|
|
NM_017739.4(POMGNT1):c.1430T>C (p.Met477Thr)
|
|
|
NM_017739.4(POMGNT1):c.1431del (p.Met477fs)
|
|
|
NM_017739.4(POMGNT1):c.1435A>G (p.Met479Val)
|
|
|
NM_017739.4(POMGNT1):c.1436del (p.Met479fs)
|
|
|
NM_017739.4(POMGNT1):c.1445_1447delinsA (p.Pro482fs)
|
|
|
NM_017739.4(POMGNT1):c.144G>A (p.Leu48=)
|
rs776815245
|
|
NM_017739.4(POMGNT1):c.1450C>T (p.Gln484Ter)
|
|
|
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly)
|
rs534543454
|
|
NM_017739.4(POMGNT1):c.1456C>T (p.Arg486Trp)
|
|
|
NM_017739.4(POMGNT1):c.1457G>T (p.Arg486Leu)
|
rs753030030
|
|
NM_017739.4(POMGNT1):c.1461C>T (p.Gly487=)
|
rs2148184086
|
|
NM_017739.4(POMGNT1):c.1462C>G (p.Arg488Gly)
|
rs727504103
|
|
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)
|
rs727504103
|
|
NM_017739.4(POMGNT1):c.1464A>G (p.Arg488=)
|
rs1157887321
|
|
NM_017739.4(POMGNT1):c.1465G>A (p.Glu489Lys)
|
|
|
NM_017739.4(POMGNT1):c.1465G>T (p.Glu489Ter)
|
|
|
NM_017739.4(POMGNT1):c.1468T>G (p.Cys490Gly)
|
|
|
NM_017739.4(POMGNT1):c.1478C>G (p.Pro493Arg)
|
rs28942068
|
|
NM_017739.4(POMGNT1):c.1489C>A (p.Arg497=)
|
|
|
NM_017739.4(POMGNT1):c.1494C>G (p.Ser498=)
|
rs2148183687
|
|
NM_017739.4(POMGNT1):c.1499A>C (p.His500Pro)
|
|
|
NM_017739.4(POMGNT1):c.1501T>C (p.Phe501Leu)
|
rs753120009
|
|
NM_017739.4(POMGNT1):c.1503T>C (p.Phe501=)
|
rs779251990
|
|
NM_017739.4(POMGNT1):c.1509C>T (p.Ile503=)
|
rs370215834
|
|
NM_017739.4(POMGNT1):c.150T>G (p.Thr50=)
|
rs2148219359
|
|
NM_017739.4(POMGNT1):c.1510G>T (p.Val504Phe)
|
rs17102066
|
|
NM_017739.4(POMGNT1):c.1512C>T (p.Val504=)
|
|
|
NM_017739.4(POMGNT1):c.1515C>T (p.Gly505=)
|
|
|
NM_017739.4(POMGNT1):c.151G>A (p.Val51Ile)
|
rs2148219344
|
|
NM_017739.4(POMGNT1):c.1521C>G (p.Asn507Lys)
|
rs767617711
|
|
NM_017739.4(POMGNT1):c.1523T>C (p.Met508Thr)
|
rs1571653937
|
|
NM_017739.4(POMGNT1):c.1538_1539+2del
|
rs1057516576
|
|
NM_017739.4(POMGNT1):c.1539+11G>A
|
|
|
NM_017739.4(POMGNT1):c.1539+11G>T
|
|
|
NM_017739.4(POMGNT1):c.1539+12G>T
|
|
|
NM_017739.4(POMGNT1):c.1539+15G>A
|
|
|
NM_017739.4(POMGNT1):c.1539+16G>T
|
rs2148183113
|
|
NM_017739.4(POMGNT1):c.1539+17del
|
|
|
NM_017739.4(POMGNT1):c.1539+18A>T
|
|
|
NM_017739.4(POMGNT1):c.1539+19G>A
|
|
|
NM_017739.4(POMGNT1):c.1539+19G>T
|
|
|
NM_017739.4(POMGNT1):c.1539+1G>T
|
rs138642840
|
|
NM_017739.4(POMGNT1):c.1539+1del
|
rs1553163077
|
|
NM_017739.4(POMGNT1):c.1539+20C>G
|
rs1298417014
|
|
NM_017739.4(POMGNT1):c.1539+20C>T
|
|
|
NM_017739.4(POMGNT1):c.1539+7G>A
|
|
|
NM_017739.4(POMGNT1):c.1540-12T>C
|
|
|
NM_017739.4(POMGNT1):c.1540-16C>G
|
|
|
NM_017739.4(POMGNT1):c.1540-19A>G
|
|
|
NM_017739.4(POMGNT1):c.1540-2A>G
|
rs386834016
|
|
NM_017739.4(POMGNT1):c.1540-3C>T
|
|
|
NM_017739.4(POMGNT1):c.1540-4C>T
|
rs2148175006
|
|
NM_017739.4(POMGNT1):c.1540-5T>C
|
|
|
NM_017739.4(POMGNT1):c.1540-8C>T
|
rs2148175078
|
|
NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs)
|
rs1434252108
|
|
NM_017739.4(POMGNT1):c.1547A>C (p.Tyr516Ser)
|
|
|
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs)
|
rs1176001640
|
|
NM_017739.4(POMGNT1):c.1557del (p.Lys519fs)
|
|
|
NM_017739.4(POMGNT1):c.1562del (p.Lys521fs)
|
rs1057517422
|
|
NM_017739.4(POMGNT1):c.156T>C (p.Ile52=)
|
rs2148219292
|
|
NM_017739.4(POMGNT1):c.1571C>G (p.Thr524Arg)
|
rs769180238
|
|
NM_017739.4(POMGNT1):c.1585C>T (p.Gln529Ter)
|
|
|
NM_017739.4(POMGNT1):c.1588C>T (p.Leu530Phe)
|
|
|
NM_017739.4(POMGNT1):c.1597G>T (p.Val533Leu)
|
rs1657700266
|
|
NM_017739.4(POMGNT1):c.1599G>A (p.Val533=)
|
rs2148174488
|
|
NM_017739.4(POMGNT1):c.159C>T (p.Val53=)
|
|
|
NM_017739.4(POMGNT1):c.1604+17G>T
|
rs2148174265
|
|
NM_017739.4(POMGNT1):c.1604+18G>C
|
rs2148174248
|
|
NM_017739.4(POMGNT1):c.1604+1G>A
|
rs1553162873
|
|
NM_017739.4(POMGNT1):c.1604+20C>A
|
|
|
NM_017739.4(POMGNT1):c.1604+2T>C
|
rs1553162872
|
|
NM_017739.4(POMGNT1):c.1604+8C>A
|
rs2148174404
|
|
NM_017739.4(POMGNT1):c.1604+9T>G
|
|
|
NM_017739.4(POMGNT1):c.1605-11C>T
|
|
|
NM_017739.4(POMGNT1):c.1605-15C>T
|
|
|
NM_017739.4(POMGNT1):c.1605-19A>G
|
|
|
NM_017739.4(POMGNT1):c.1605-1G>T
|
rs770219373
|
|
NM_017739.4(POMGNT1):c.1605-20C>T
|
|
|
NM_017739.4(POMGNT1):c.1605-2A>T
|
rs2148172518
|
|
NM_017739.4(POMGNT1):c.1605-2_1606del
|
|
|
NM_017739.4(POMGNT1):c.1605-3C>T
|
rs1457187510
|
|
NM_017739.4(POMGNT1):c.1605-6C>T
|
rs2148172583
|
|
NM_017739.4(POMGNT1):c.1605-6_1605-5del
|
|
|
NM_017739.4(POMGNT1):c.1605-8_1605-6del
|
rs2148172606
|
|
NM_017739.4(POMGNT1):c.1608G>C (p.Leu536=)
|
|
|
NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)
|
|
|
NM_017739.4(POMGNT1):c.1615G>A (p.Glu539Lys)
|
rs1657679725
|
|
NM_017739.4(POMGNT1):c.1615_1616del (p.Glu539fs)
|
|
|
NM_017739.4(POMGNT1):c.1623T>G (p.Tyr541Ter)
|
rs746196856
|
|
NM_017739.4(POMGNT1):c.1629G>A (p.Val543=)
|
rs2148172303
|
|
NM_017739.4(POMGNT1):c.1632A>G (p.Glu544=)
|
|
|
NM_017739.4(POMGNT1):c.1634T>C (p.Val545Ala)
|
rs1657678070
|
|
NM_017739.4(POMGNT1):c.1636C>T (p.His546Tyr)
|
rs970460430
|
|
NM_017739.4(POMGNT1):c.1638C>T (p.His546=)
|
|
|
NM_017739.4(POMGNT1):c.163A>G (p.Ile55Val)
|
rs2148219236
|
|
NM_017739.4(POMGNT1):c.1648A>G (p.Ser550Gly)
|
rs2148172085
|
|
NM_017739.4(POMGNT1):c.1649+10A>G
|
|
|
NM_017739.4(POMGNT1):c.1649+13A>G
|
|
|
NM_017739.4(POMGNT1):c.1649+16A>G
|
rs1283340700
|
|
NM_017739.4(POMGNT1):c.1649+17T>C
|
|
|
NM_017739.4(POMGNT1):c.1649+18T>C
|
|
|
NM_017739.4(POMGNT1):c.1649+20G>A
|
|
|
NM_017739.4(POMGNT1):c.1649+2T>G
|
rs1268759044
|
|
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)
|
rs193919335
|
|
NM_017739.4(POMGNT1):c.1650-13C>T
|
rs1413241496
|
|
NM_017739.4(POMGNT1):c.1650-2A>G
|
|
|
NM_017739.4(POMGNT1):c.1650-4G>A
|
rs1557669478
|
|
NM_017739.4(POMGNT1):c.1650-5_1650-3dup
|
rs2148167846
|
|
NM_017739.4(POMGNT1):c.1650-7A>G
|
|
|
NM_017739.4(POMGNT1):c.1650-97_1728del
|
rs2148166991
|
|
NM_017739.4(POMGNT1):c.1651G>A (p.Glu551Lys)
|
|
|
NM_017739.4(POMGNT1):c.1659G>A (p.Glu553=)
|
rs750115605
|
|
NM_017739.4(POMGNT1):c.165C>T (p.Ile55=)
|
|
|
NM_017739.4(POMGNT1):c.1662T>C (p.Val554=)
|
|
|
NM_017739.4(POMGNT1):c.1663C>T (p.Leu555=)
|
|
|
NM_017739.4(POMGNT1):c.1665G>A (p.Leu555=)
|
|
|
NM_017739.4(POMGNT1):c.1671C>T (p.His557=)
|
rs2148167689
|
|
NM_017739.4(POMGNT1):c.1672dup (p.Ser558fs)
|
|
|
NM_017739.4(POMGNT1):c.1677del (p.Asn560fs)
|
|
|
NM_017739.4(POMGNT1):c.1680C>T (p.Asn560=)
|
rs1571647920
|
|
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser)
|
rs2148167563
|
|
NM_017739.4(POMGNT1):c.1683T>C (p.Pro561=)
|
rs1246120938
|
|
NM_017739.4(POMGNT1):c.1684dup (p.Cys562fs)
|
|
|
NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)
|
|
|
NM_017739.4(POMGNT1):c.1686dup (p.Glu563Ter)
|
rs2148167494
|
|
NM_017739.4(POMGNT1):c.1693T>A (p.Ser565Thr)
|
rs753688195
|
|
NM_017739.4(POMGNT1):c.1693T>C (p.Ser565Pro)
|
rs753688195
|
|
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)
|
rs1057516903
|
|
NM_017739.4(POMGNT1):c.1695_1698del (p.Phe566fs)
|
rs1057516986
|
|
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=)
|
rs1657621738
|
|
NM_017739.4(POMGNT1):c.169T>G (p.Leu57Val)
|
|
|
NM_017739.4(POMGNT1):c.16C>T (p.Pro6Ser)
|
rs1553164303
|
|
NM_017739.4(POMGNT1):c.1704A>G (p.Pro568=)
|
|
|
NM_017739.4(POMGNT1):c.1708A>G (p.Thr570Ala)
|
|
|
NM_017739.4(POMGNT1):c.1711G>A (p.Glu571Lys)
|
|
|
NM_017739.4(POMGNT1):c.1712A>G (p.Glu571Gly)
|
rs1204034604
|
|
NM_017739.4(POMGNT1):c.1716C>T (p.Gly572=)
|
rs2148167217
|
|
NM_017739.4(POMGNT1):c.1719C>T (p.His573=)
|
rs2148167171
|
|
NM_017739.4(POMGNT1):c.1719del (p.His573fs)
|
rs386834017
|
|
NM_017739.4(POMGNT1):c.1722C>G (p.Thr574=)
|
|
|
NM_017739.4(POMGNT1):c.1725_1726del (p.Val576fs)
|
|
|
NM_017739.4(POMGNT1):c.1726G>A (p.Val576Met)
|
|
|
NM_017739.4(POMGNT1):c.1728G>A (p.Val576=)
|
|
|
NM_017739.4(POMGNT1):c.1729G>A (p.Ala577Thr)
|
rs1343659692
|
|
NM_017739.4(POMGNT1):c.1731C>G (p.Ala577=)
|
rs2148166958
|
|
NM_017739.4(POMGNT1):c.1731C>T (p.Ala577=)
|
|
|
NM_017739.4(POMGNT1):c.1739G>A (p.Arg580Gln)
|
|
|
NM_017739.4(POMGNT1):c.1741_1745del (p.Met581fs)
|
rs749332339
|
|
NM_017739.4(POMGNT1):c.1742T>C (p.Met581Thr)
|
|
|
NM_017739.4(POMGNT1):c.1746G>A (p.Glu582=)
|
rs2148166820
|
|
NM_017739.4(POMGNT1):c.1749A>G (p.Lys583=)
|
|
|
NM_017739.4(POMGNT1):c.174C>T (p.Ile58=)
|
rs1262461613
|
|
NM_017739.4(POMGNT1):c.1752TGA[1] (p.Asp586del)
|
rs777715386
|
|
NM_017739.4(POMGNT1):c.1755T>C (p.Asp585=)
|
|
|
NM_017739.4(POMGNT1):c.1759_1763del (p.Phe587fs)
|
rs1302430730
|
|
NM_017739.4(POMGNT1):c.175C>T (p.Leu59=)
|
|
|
NM_017739.4(POMGNT1):c.1763C>T (p.Thr588Ile)
|
|
|
NM_017739.4(POMGNT1):c.1767C>T (p.Thr589=)
|
|
|
NM_017739.4(POMGNT1):c.1773C>G (p.Thr591=)
|
rs755936993
|
|
NM_017739.4(POMGNT1):c.1777C>T (p.Leu593Phe)
|
|
|
NM_017739.4(POMGNT1):c.1780del (p.Ala594fs)
|
|
|
NM_017739.4(POMGNT1):c.1785+10T>C
|
rs2148166357
|
|
NM_017739.4(POMGNT1):c.1785+19C>A
|
|
|
NM_017739.4(POMGNT1):c.1785+19C>T
|
|
|
NM_017739.4(POMGNT1):c.1785+1G>A
|
rs2148166435
|
|
NM_017739.4(POMGNT1):c.1785+20A>G
|
|
|
NM_017739.4(POMGNT1):c.1785+2T>G
|
rs386834020
|
|
NM_017739.4(POMGNT1):c.1786-10C>T
|
|
|
NM_017739.4(POMGNT1):c.1786-11A>G
|
|
|
NM_017739.4(POMGNT1):c.1786-12C>A
|
|
|
NM_017739.4(POMGNT1):c.1786-14C>G
|
|
|
NM_017739.4(POMGNT1):c.1786-16A>G
|
|
|
NM_017739.4(POMGNT1):c.1786-18C>G
|
|
|
NM_017739.4(POMGNT1):c.1786-1G>A
|
rs1457667479
|
|
NM_017739.4(POMGNT1):c.1786-2A>G
|
rs1057517340
|
|
NM_017739.4(POMGNT1):c.1786-4C>T
|
|
|
NM_017739.4(POMGNT1):c.1786-8C>G
|
|
|
NM_017739.4(POMGNT1):c.1788C>A (p.Cys596Ter)
|
rs376973640
|
|
NM_017739.4(POMGNT1):c.1788C>T (p.Cys596=)
|
rs376973640
|
|
NM_017739.4(POMGNT1):c.1802A>G (p.Asp601Gly)
|
|
|
NM_017739.4(POMGNT1):c.1804C>T (p.Leu602=)
|
|
|
NM_017739.4(POMGNT1):c.1806G>A (p.Leu602=)
|
|
|
NM_017739.4(POMGNT1):c.1809T>C (p.Asp603=)
|
rs372423310
|
|
NM_017739.4(POMGNT1):c.180C>T (p.Asp60=)
|
rs2148219090
|
|
NM_017739.4(POMGNT1):c.1812G>A (p.Val604=)
|
|
|
NM_017739.4(POMGNT1):c.1812del (p.Arg605fs)
|
|
|
NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser)
|
rs886044567
|
|
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)
|
rs267606962
|
|
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)
|
rs267606962
|
|
NM_017739.4(POMGNT1):c.1814G>T (p.Arg605Leu)
|
rs267606962
|
|
NM_017739.4(POMGNT1):c.1828G>T (p.Gly610Cys)
|
rs1657578489
|
|
NM_017739.4(POMGNT1):c.1829del (p.Gly610fs)
|
|
|
NM_017739.4(POMGNT1):c.1832del (p.Leu611fs)
|
rs587777822
|
|
NM_017739.4(POMGNT1):c.1835G>A (p.Trp612Ter)
|
|
|
NM_017739.4(POMGNT1):c.1839A>G (p.Arg613=)
|
rs1657576580
|
|
NM_017739.4(POMGNT1):c.183T>C (p.Thr61=)
|
rs748826601
|
|
NM_017739.4(POMGNT1):c.1841T>A (p.Leu614Ter)
|
rs1364587778
|
|
NM_017739.4(POMGNT1):c.1842G>A (p.Leu614=)
|
rs1298358291
|
|
NM_017739.4(POMGNT1):c.1842_1844del (p.Leu614del)
|
rs1553162667
|
|
NM_017739.4(POMGNT1):c.1844T>G (p.Phe615Cys)
|
rs2148163569
|
|
NM_017739.4(POMGNT1):c.1846C>G (p.Arg616Gly)
|
rs763071717
|
|
NM_017739.4(POMGNT1):c.1846C>T (p.Arg616Trp)
|
rs763071717
|
|
NM_017739.4(POMGNT1):c.1848GAA[2] (p.Lys618del)
|
rs1435566919
|
|
NM_017739.4(POMGNT1):c.184C>G (p.Arg62Gly)
|
rs1352412667
|
|
NM_017739.4(POMGNT1):c.184C>T (p.Arg62Trp)
|
rs1352412667
|
|
NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)
|
rs1553162663
|
|
NM_017739.4(POMGNT1):c.185G>A (p.Arg62Gln)
|
rs779506923
|
|
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs)
|
rs1057517153
|
|
NM_017739.4(POMGNT1):c.1863C>T (p.Phe621=)
|
rs2148163363
|
|
NM_017739.4(POMGNT1):c.1864del (p.Phe621_Leu622insTer)
|
rs386834021
|
|
NM_017739.4(POMGNT1):c.1867A>C (p.Met623Leu)
|
rs6659553
|
|
NM_017739.4(POMGNT1):c.1872G>C (p.Val624=)
|
rs1168602477
|
|
NM_017739.4(POMGNT1):c.1876G>A (p.Val626Ile)
|
rs199723646
|
|
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)
|
rs386834022
|
|
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=)
|
rs1657570765
|
|
NM_017739.4(POMGNT1):c.1887C>G (p.Ser629=)
|
|
|
NM_017739.4(POMGNT1):c.1888C>T (p.Pro630Ser)
|
|
|
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg)
|
rs747723242
|
|
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro)
|
rs141421141
|
|
NM_017739.4(POMGNT1):c.1890C>T (p.Pro630=)
|
|
|
NM_017739.4(POMGNT1):c.1895+11C>T
|
|
|
NM_017739.4(POMGNT1):c.1895+19C>T
|
|
|
NM_017739.4(POMGNT1):c.1895+1G>A
|
rs386834024
|
|
NM_017739.4(POMGNT1):c.1895+1G>C
|
rs386834024
|
|
NM_017739.4(POMGNT1):c.1895+22_1895+23insCCTACTCGTGAGTGCCCTGTTT
|
rs1553162621
|
|
NM_017739.4(POMGNT1):c.1895+5_1895+8del
|
rs386834023
|
|
NM_017739.4(POMGNT1):c.1895+9C>G
|
rs754452122
|
|
NM_017739.4(POMGNT1):c.1895+9C>T
|
|
|
NM_017739.4(POMGNT1):c.1895C>G (p.Ser632Ter)
|
rs200471699
|
|
NM_017739.4(POMGNT1):c.1896-10A>C
|
rs773132049
|
|
NM_017739.4(POMGNT1):c.1896-10A>G
|
rs773132049
|
|
NM_017739.4(POMGNT1):c.1896-11T>A
|
|
|
NM_017739.4(POMGNT1):c.1896-13A>C
|
|
|
NM_017739.4(POMGNT1):c.1896-18C>G
|
rs1571645725
|
|
NM_017739.4(POMGNT1):c.1896-18C>T
|
|
|
NM_017739.4(POMGNT1):c.1896-1G>C
|
rs386834025
|
|
NM_017739.4(POMGNT1):c.1896-4C>T
|
rs2148162311
|
|
NM_017739.4(POMGNT1):c.1896-5C>T
|
|
|
NM_017739.4(POMGNT1):c.1897G>A (p.Val633Met)
|
rs1657559085
|
|
NM_017739.4(POMGNT1):c.1898T>A (p.Val633Glu)
|
rs1285505849
|
|
NM_017739.4(POMGNT1):c.18C>T (p.Pro6=)
|
rs1411103437
|
|
NM_017739.4(POMGNT1):c.1905del (p.Lys635fs)
|
rs1553162601
|
|
NM_017739.4(POMGNT1):c.1913C>T (p.Ser638Leu)
|
rs2148162135
|
|
NM_017739.4(POMGNT1):c.1914A>C (p.Ser638=)
|
rs778579837
|
|
NM_017739.4(POMGNT1):c.1914A>T (p.Ser638=)
|
rs778579837
|
|
NM_017739.4(POMGNT1):c.1917C>T (p.Val639=)
|
|
|
NM_017739.4(POMGNT1):c.1919C>T (p.Thr640Ile)
|
rs748799436
|
|
NM_017739.4(POMGNT1):c.1923A>G (p.Pro641=)
|
rs886043958
|
|
NM_017739.4(POMGNT1):c.1924A>G (p.Ile642Val)
|
rs757749808
|
|
NM_017739.4(POMGNT1):c.1924A>T (p.Ile642Phe)
|
rs757749808
|
|
NM_017739.4(POMGNT1):c.1926T>A (p.Ile642=)
|
|
|
NM_017739.4(POMGNT1):c.1928del (p.Phe643fs)
|
rs386834026
|
|
NM_017739.4(POMGNT1):c.1929C>T (p.Phe643=)
|
rs2148161920
|
|
NM_017739.4(POMGNT1):c.1930C>T (p.Leu644=)
|
rs2148161905
|
|
NM_017739.4(POMGNT1):c.1932G>A (p.Leu644=)
|
|
|
NM_017739.4(POMGNT1):c.1935G>A (p.Glu645=)
|
rs2148161838
|
|
NM_017739.4(POMGNT1):c.1936C>T (p.Pro646Ser)
|
rs1442072528
|
|
NM_017739.4(POMGNT1):c.1939C>G (p.Pro647Ala)
|
rs2148161781
|
|
NM_017739.4(POMGNT1):c.1939C>T (p.Pro647Ser)
|
|
|
NM_017739.4(POMGNT1):c.1945A>C (p.Lys649Gln)
|
rs752942416
|
|
NM_017739.4(POMGNT1):c.1947G>T (p.Lys649Asn)
|
rs144068158
|
|
NM_017739.4(POMGNT1):c.1950G>A (p.Glu650=)
|
rs2148161681
|
|
NM_017739.4(POMGNT1):c.1950G>C (p.Glu650Asp)
|
rs2148161681
|
|
NM_017739.4(POMGNT1):c.1956A>G (p.Gly652=)
|
rs2148161602
|
|
NM_017739.4(POMGNT1):c.1959C>T (p.Ala653=)
|
rs2148161592
|
|
NM_017739.4(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup)
|
rs1553162587
|
|
NM_017739.4(POMGNT1):c.196A>G (p.Ser66Gly)
|
|
|
NM_017739.4(POMGNT1):c.1970C>T (p.Pro657Leu)
|
|
|
NM_017739.4(POMGNT1):c.1977G>A (p.Gln659=)
|
|
|
NM_017739.4(POMGNT1):c.1980A>C (p.Thr660=)
|
rs1457135444
|
|
NM_017739.4(POMGNT1):c.198T>C (p.Ser66=)
|
rs2148218905
|
|
NM_017739.4(POMGNT1):c.19A>G (p.Ser7Gly)
|
rs2148222925
|
|
NM_017739.4(POMGNT1):c.1A>G (p.Met1Val)
|
|
|
NM_017739.4(POMGNT1):c.201A>G (p.Glu67=)
|
|
|
NM_017739.4(POMGNT1):c.208_209del (p.Glu70fs)
|
|
|
NM_017739.4(POMGNT1):c.20del (p.Ser7fs)
|
|
|
NM_017739.4(POMGNT1):c.214C>T (p.Pro72Ser)
|
rs2148218769
|
|
NM_017739.4(POMGNT1):c.215dup (p.Glu73fs)
|
|
|
NM_017739.4(POMGNT1):c.225G>A (p.Glu75=)
|
rs2148218728
|
|
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys)
|
rs972657462
|
|
NM_017739.4(POMGNT1):c.226C>T (p.Gln76Ter)
|
|
|
NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer)
|
rs1553164129
|
|
NM_017739.4(POMGNT1):c.235+11G>A
|
rs2148218572
|
|
NM_017739.4(POMGNT1):c.235+18A>T
|
|
|
NM_017739.4(POMGNT1):c.235+20G>A
|
rs2148218480
|
|
NM_017739.4(POMGNT1):c.235+2T>C
|
rs2148218654
|
|
NM_017739.4(POMGNT1):c.235+2T>G
|
rs2148218654
|
|
NM_017739.4(POMGNT1):c.235G>A (p.Asp79Asn)
|
rs1658296449
|
|
NM_017739.4(POMGNT1):c.236-15T>C
|
|
|
NM_017739.4(POMGNT1):c.236-15_236-7del
|
rs769193448
|
|
NM_017739.4(POMGNT1):c.236-16C>T
|
|
|
NM_017739.4(POMGNT1):c.236-17C>A
|
|
|
NM_017739.4(POMGNT1):c.236-17C>T
|
|
|
NM_017739.4(POMGNT1):c.236-19G>A
|
|
|
NM_017739.4(POMGNT1):c.236-1G>C
|
|
|
NM_017739.4(POMGNT1):c.236-1_236del
|
|
|
NM_017739.4(POMGNT1):c.236-5C>A
|
|
|
NM_017739.4(POMGNT1):c.236-6C>T
|
rs2148217861
|
|
NM_017739.4(POMGNT1):c.236-8C>T
|
|
|
NM_017739.4(POMGNT1):c.237T>G (p.Asp79Glu)
|
rs748566125
|
|
NM_017739.4(POMGNT1):c.243C>G (p.Ala81=)
|
rs200570654
|
|
NM_017739.4(POMGNT1):c.246_262dup (p.Pro88fs)
|
rs2148217590
|
|
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His)
|
rs373866304
|
|
NM_017739.4(POMGNT1):c.251G>T (p.Arg84Leu)
|
rs373866304
|
|
NM_017739.4(POMGNT1):c.252C>T (p.Arg84=)
|
|
|
NM_017739.4(POMGNT1):c.256G>C (p.Glu86Gln)
|
rs1658280808
|
|
NM_017739.4(POMGNT1):c.258G>A (p.Glu86=)
|
rs2148217653
|
|
NM_017739.4(POMGNT1):c.259C>T (p.Pro87Ser)
|
rs1557677993
|
|
NM_017739.4(POMGNT1):c.25dup (p.Leu9fs)
|
rs386834027
|
|
NM_017739.4(POMGNT1):c.261C>G (p.Pro87=)
|
|
|
NM_017739.4(POMGNT1):c.261C>T (p.Pro87=)
|
rs1658279896
|
|
NM_017739.4(POMGNT1):c.263del (p.Pro88fs)
|
rs1557677980
|
|
NM_017739.4(POMGNT1):c.265C>T (p.Arg89Trp)
|
|
|
NM_017739.4(POMGNT1):c.270C>A (p.Arg90=)
|
|
|
NM_017739.4(POMGNT1):c.275G>A (p.Gly92Asp)
|
rs761706300
|
|
NM_017739.4(POMGNT1):c.284C>T (p.Pro95Leu)
|
rs1334885135
|
|
NM_017739.4(POMGNT1):c.285C>T (p.Pro95=)
|
rs2148217334
|
|
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln)
|
rs200227264
|
|
NM_017739.4(POMGNT1):c.289C>A (p.Arg97=)
|
rs564076183
|
|
NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)
|
|
|
NM_017739.4(POMGNT1):c.303_304insT (p.Glu102Ter)
|
|
|
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter)
|
rs749603354
|
|
NM_017739.4(POMGNT1):c.307del (p.Val103fs)
|
|
|
NM_017739.4(POMGNT1):c.309G>A (p.Val103=)
|
rs1553164091
|
|
NM_017739.4(POMGNT1):c.30C>G (p.Ile10Met)
|
rs781102649
|
|
NM_017739.4(POMGNT1):c.310T>G (p.Tyr104Asp)
|
rs2148217123
|
|
NM_017739.4(POMGNT1):c.316A>C (p.Ser106Arg)
|
|
|
NM_017739.4(POMGNT1):c.320G>A (p.Arg107His)
|
rs527454065
|
|
NM_017739.4(POMGNT1):c.324C>T (p.Ser108=)
|
|
|
NM_017739.4(POMGNT1):c.328G>T (p.Val110Leu)
|
rs762760509
|
|
NM_017739.4(POMGNT1):c.333T>A (p.Tyr111Ter)
|
|
|
NM_017739.4(POMGNT1):c.333T>C (p.Tyr111=)
|
|
|
NM_017739.4(POMGNT1):c.33G>A (p.Lys11=)
|
|
|
NM_017739.4(POMGNT1):c.341T>C (p.Val114Ala)
|
rs2148216895
|
|
NM_017739.4(POMGNT1):c.351del (p.Thr118fs)
|
rs386834028
|
|
NM_017739.4(POMGNT1):c.353C>T (p.Thr118Met)
|
|
|
NM_017739.4(POMGNT1):c.354+14G>T
|
|
|
NM_017739.4(POMGNT1):c.354+15G>A
|
|
|
NM_017739.4(POMGNT1):c.354+15G>C
|
|
|
NM_017739.4(POMGNT1):c.354+15G>T
|
|
|
NM_017739.4(POMGNT1):c.354+1G>A
|
rs1057517449
|
|
NM_017739.4(POMGNT1):c.354+6T>C
|
rs1208898067
|
|
NM_017739.4(POMGNT1):c.354+8G>A
|
|
|
NM_017739.4(POMGNT1):c.354G>A (p.Thr118=)
|
|
|
NM_017739.4(POMGNT1):c.354G>C (p.Thr118=)
|
|
|
NM_017739.4(POMGNT1):c.355-15T>C
|
|
|
NM_017739.4(POMGNT1):c.355-16C>G
|
rs1571667841
|
|
NM_017739.4(POMGNT1):c.355-17T>C
|
|
|
NM_017739.4(POMGNT1):c.355-18G>C
|
rs752485539
|
|
NM_017739.4(POMGNT1):c.355-3T>G
|
rs1553163972
|
|
NM_017739.4(POMGNT1):c.355-4_355-3del
|
rs2148213665
|
|
NM_017739.4(POMGNT1):c.355-5T>C
|
|
|
NM_017739.4(POMGNT1):c.355-6G>A
|
|
|
NM_017739.4(POMGNT1):c.355-6G>T
|
|
|
NM_017739.4(POMGNT1):c.355-8C>G
|
rs2148213723
|
|
NM_017739.4(POMGNT1):c.355-9A>C
|
rs886042396
|
|
NM_017739.4(POMGNT1):c.355-9A>G
|
rs886042396
|
|
NM_017739.4(POMGNT1):c.355-9A>T
|
rs886042396
|
|
NM_017739.4(POMGNT1):c.357G>A (p.Val119=)
|
|
|
NM_017739.4(POMGNT1):c.360G>A (p.Leu120=)
|
rs2148213580
|
|
NM_017739.4(POMGNT1):c.36C>T (p.Pro12=)
|
|
|
NM_017739.4(POMGNT1):c.36del (p.Phe13fs)
|
rs1658363329
|
|
NM_017739.4(POMGNT1):c.373C>G (p.Arg125Gly)
|
|
|
NM_017739.4(POMGNT1):c.373C>T (p.Arg125Trp)
|
|
|
NM_017739.4(POMGNT1):c.374G>A (p.Arg125Gln)
|
|
|
NM_017739.4(POMGNT1):c.378G>A (p.Glu126=)
|
|
|
NM_017739.4(POMGNT1):c.387G>A (p.Arg129=)
|
|
|
NM_017739.4(POMGNT1):c.389G>A (p.Gly130Asp)
|
rs1197810838
|
|
NM_017739.4(POMGNT1):c.389dup (p.Ile131fs)
|
|
|
NM_017739.4(POMGNT1):c.38T>G (p.Phe13Cys)
|
|
|
NM_017739.4(POMGNT1):c.390del (p.Ile131fs)
|
|
|
NM_017739.4(POMGNT1):c.396T>C (p.His132=)
|
rs886043409
|
|
NM_017739.4(POMGNT1):c.399C>G (p.Val133=)
|
rs776851436
|
|
NM_017739.4(POMGNT1):c.39T>C (p.Phe13=)
|
rs2148222786
|
|
NM_017739.4(POMGNT1):c.3G>A (p.Met1Ile)
|
|
|
NM_017739.4(POMGNT1):c.400A>G (p.Ile134Val)
|
rs771101711
|
|
NM_017739.4(POMGNT1):c.402T>A (p.Ile134=)
|
|
|
NM_017739.4(POMGNT1):c.408C>T (p.Leu136=)
|
|
|
NM_017739.4(POMGNT1):c.415G>C (p.Ala139Pro)
|
rs764809782
|
|
NM_017739.4(POMGNT1):c.419C>T (p.Thr140Met)
|
rs766157232
|
|
NM_017739.4(POMGNT1):c.420+15G>C
|
|
|
NM_017739.4(POMGNT1):c.420+16T>C
|
|
|
NM_017739.4(POMGNT1):c.420+17G>A
|
|
|
NM_017739.4(POMGNT1):c.420+17G>T
|
|
|
NM_017739.4(POMGNT1):c.420+18G>T
|
|
|
NM_017739.4(POMGNT1):c.420+19G>A
|
|
|
NM_017739.4(POMGNT1):c.420+19G>T
|
|
|
NM_017739.4(POMGNT1):c.420+3G>C
|
|
|
NM_017739.4(POMGNT1):c.420+4A>G
|
|
|
NM_017739.4(POMGNT1):c.420+8T>G
|
|
|
NM_017739.4(POMGNT1):c.421-10C>A
|
rs2148212526
|
|
NM_017739.4(POMGNT1):c.421-12A>G
|
|
|
NM_017739.4(POMGNT1):c.421-14A>G
|
|
|
NM_017739.4(POMGNT1):c.421-20A>C
|
|
|
NM_017739.4(POMGNT1):c.421-29_452del
|
rs2148212111
|
|
NM_017739.4(POMGNT1):c.421-3C>T
|
rs1658202678
|
|
NM_017739.4(POMGNT1):c.421-4C>T
|
rs2148212442
|
|
NM_017739.4(POMGNT1):c.421-7C>G
|
|
|
NM_017739.4(POMGNT1):c.421-8_421-7del
|
|
|
NM_017739.4(POMGNT1):c.422G>A (p.Gly141Asp)
|
rs2148212411
|
|
NM_017739.4(POMGNT1):c.426del (p.His142fs)
|
|
|
NM_017739.4(POMGNT1):c.429G>A (p.Val143=)
|
|
|
NM_017739.4(POMGNT1):c.434C>T (p.Ala145Val)
|
rs2148212293
|
|
NM_017739.4(POMGNT1):c.436A>G (p.Lys146Glu)
|
|
|
NM_017739.4(POMGNT1):c.438A>G (p.Lys146=)
|
rs1360246041
|
|
NM_017739.4(POMGNT1):c.447del (p.Phe149fs)
|
rs386834029
|
|
NM_017739.4(POMGNT1):c.452C>A (p.Thr151Lys)
|
rs886044363
|
|
NM_017739.4(POMGNT1):c.453G>T (p.Thr151=)
|
|
|
NM_017739.4(POMGNT1):c.458C>A (p.Ser153Ter)
|
|
|
NM_017739.4(POMGNT1):c.459A>G (p.Ser153=)
|
|
|
NM_017739.4(POMGNT1):c.45T>C (p.Ala15=)
|
rs2148222755
|
|
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His)
|
rs886043030
|
|
NM_017739.4(POMGNT1):c.476C>A (p.Ala159Asp)
|
rs2148211902
|
|
NM_017739.4(POMGNT1):c.478del (p.Met160fs)
|
rs1057517355
|
|
NM_017739.4(POMGNT1):c.47G>A (p.Arg16Gln)
|
|
|
NM_017739.4(POMGNT1):c.489C>T (p.Phe163=)
|
rs1379184772
|
|
NM_017739.4(POMGNT1):c.490C>G (p.Leu164Val)
|
rs2148211802
|
|
NM_017739.4(POMGNT1):c.492C>G (p.Leu164=)
|
rs562534688
|
|
NM_017739.4(POMGNT1):c.494A>G (p.Asn165Ser)
|
|
|
NM_017739.4(POMGNT1):c.495C>T (p.Asn165=)
|
rs2148211758
|
|
NM_017739.4(POMGNT1):c.504G>T (p.Ala168=)
|
rs761978964
|
|
NM_017739.4(POMGNT1):c.506C>T (p.Pro169Leu)
|
rs1271259700
|
|
NM_017739.4(POMGNT1):c.507C>G (p.Pro169=)
|
|
|
NM_017739.4(POMGNT1):c.508G>A (p.Gly170Ser)
|
rs1164265990
|
|
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)
|
rs1424631447
|
|
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln)
|
rs1046275062
|
|
NM_017739.4(POMGNT1):c.512_517dup (p.Arg171_Val172dup)
|
rs1553163909
|
|
NM_017739.4(POMGNT1):c.519C>T (p.Leu173=)
|
rs749222507
|
|
NM_017739.4(POMGNT1):c.522C>A (p.Ile174=)
|
|
|
NM_017739.4(POMGNT1):c.522C>T (p.Ile174=)
|
rs949200631
|
|
NM_017739.4(POMGNT1):c.525C>T (p.Cys175=)
|
|
|
NM_017739.4(POMGNT1):c.526A>C (p.Thr176Pro)
|
rs386834030
|
|
NM_017739.4(POMGNT1):c.528T>C (p.Thr176=)
|
rs1217058255
|
|
NM_017739.4(POMGNT1):c.52A>G (p.Lys18Glu)
|
rs1553164287
|
|
NM_017739.4(POMGNT1):c.534+17T>C
|
|
|
NM_017739.4(POMGNT1):c.535-10G>T
|
rs775581321
|
|
NM_017739.4(POMGNT1):c.535-17C>T
|
|
|
NM_017739.4(POMGNT1):c.535-20T>A
|
|
|
NM_017739.4(POMGNT1):c.535-3del
|
|
|
NM_017739.4(POMGNT1):c.535-4C>G
|
rs1433628796
|
|
NM_017739.4(POMGNT1):c.535-4C>T
|
|
|
NM_017739.4(POMGNT1):c.535-7C>G
|
rs375913574
|
|
NM_017739.4(POMGNT1):c.535-7C>T
|
rs375913574
|
|
NM_017739.4(POMGNT1):c.535-9G>A
|
|
|
NM_017739.4(POMGNT1):c.538G>T (p.Glu180Ter)
|
|
|
NM_017739.4(POMGNT1):c.540G>A (p.Glu180=)
|
rs1571664531
|
|
NM_017739.4(POMGNT1):c.541G>A (p.Gly181Ser)
|
rs2148205851
|
|
NM_017739.4(POMGNT1):c.544T>C (p.Ser182Pro)
|
rs2148205834
|
|
NM_017739.4(POMGNT1):c.546C>T (p.Ser182=)
|
|
|
NM_017739.4(POMGNT1):c.54G>A (p.Lys18=)
|
rs1364921620
|
|
NM_017739.4(POMGNT1):c.557A>G (p.Lys186Arg)
|
rs2148205697
|
|
NM_017739.4(POMGNT1):c.55C>A (p.Arg19=)
|
rs757941122
|
|
NM_017739.4(POMGNT1):c.55C>T (p.Arg19Trp)
|
rs757941122
|
|
NM_017739.4(POMGNT1):c.563_564del (p.Thr188fs)
|
rs757322014
|
|
NM_017739.4(POMGNT1):c.564_576del (p.Thr188_Ala189insTer)
|
rs2148205473
|
|
NM_017739.4(POMGNT1):c.565G>C (p.Ala189Pro)
|
rs949714416
|
|
NM_017739.4(POMGNT1):c.567C>T (p.Ala189=)
|
|
|
NM_017739.4(POMGNT1):c.56G>A (p.Arg19Gln)
|
|
|
NM_017739.4(POMGNT1):c.570G>A (p.Lys190=)
|
|
|
NM_017739.4(POMGNT1):c.580_581del (p.Arg194fs)
|
|
|
NM_017739.4(POMGNT1):c.582G>A (p.Arg194=)
|
rs398124309
|
|
NM_017739.4(POMGNT1):c.584del (p.Ser195fs)
|
|
|
NM_017739.4(POMGNT1):c.585C>T (p.Ser195=)
|
rs756578769
|
|
NM_017739.4(POMGNT1):c.586del (p.Leu196fs)
|
|
|
NM_017739.4(POMGNT1):c.588G>C (p.Leu196=)
|
|
|
NM_017739.4(POMGNT1):c.588G>T (p.Leu196=)
|
|
|
NM_017739.4(POMGNT1):c.593del (p.Ser198fs)
|
rs386834031
|
|
NM_017739.4(POMGNT1):c.594C>G (p.Ser198Arg)
|
rs386834032
|
|
NM_017739.4(POMGNT1):c.595C>T (p.Gln199Ter)
|
rs908815575
|
|
NM_017739.4(POMGNT1):c.599C>T (p.Ala200Val)
|
rs1658103117
|
|
NM_017739.4(POMGNT1):c.599del (p.Ala200fs)
|
|
|
NM_017739.4(POMGNT1):c.600T>A (p.Ala200=)
|
rs2148205182
|
|
NM_017739.4(POMGNT1):c.603_618delinsTCCCTTCAGATTCCTGA (p.Ala203fs)
|
|
|
NM_017739.4(POMGNT1):c.607G>A (p.Ala203Thr)
|
rs982953590
|
|
NM_017739.4(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer)
|
rs1057516478
|
|
NM_017739.4(POMGNT1):c.615C>T (p.Gly205=)
|
|
|
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter)
|
rs1156647434
|
|
NM_017739.4(POMGNT1):c.61T>C (p.Trp21Arg)
|
rs2148222670
|
|
NM_017739.4(POMGNT1):c.621G>A (p.Arg207=)
|
|
|
NM_017739.4(POMGNT1):c.623A>T (p.Asp208Val)
|
|
|
NM_017739.4(POMGNT1):c.624C>T (p.Asp208=)
|
rs1553163762
|
|
NM_017739.4(POMGNT1):c.626C>T (p.Thr209Ile)
|
rs1571664089
|
|
NM_017739.4(POMGNT1):c.628T>C (p.Trp210Arg)
|
rs1658098171
|
|
NM_017739.4(POMGNT1):c.630G>T (p.Trp210Cys)
|
rs386834033
|
|
NM_017739.4(POMGNT1):c.631G>A (p.Ala211Thr)
|
rs1201476826
|
|
NM_017739.4(POMGNT1):c.640G>T (p.Gly214Ter)
|
|
|
NM_017739.4(POMGNT1):c.643C>A (p.Arg215=)
|
|
|
NM_017739.4(POMGNT1):c.652+11C>T
|
|
|
NM_017739.4(POMGNT1):c.652+12A>G
|
rs1658093902
|
|
NM_017739.4(POMGNT1):c.652+18C>T
|
|
|
NM_017739.4(POMGNT1):c.652+18dup
|
|
|
NM_017739.4(POMGNT1):c.652+1G>A
|
rs386834035
|
|
NM_017739.4(POMGNT1):c.652+3G>A
|
|
|
NM_017739.4(POMGNT1):c.652+7G>T
|
rs2148204470
|
|
NM_017739.4(POMGNT1):c.652+8C>A
|
|
|
NM_017739.4(POMGNT1):c.652+9A>T
|
|
|
NM_017739.4(POMGNT1):c.653-15C>T
|
rs2148203041
|
|
NM_017739.4(POMGNT1):c.653-20T>A
|
|
|
NM_017739.4(POMGNT1):c.653-2A>C
|
rs1553163721
|
|
NM_017739.4(POMGNT1):c.653-2del
|
|
|
NM_017739.4(POMGNT1):c.653-5G>A
|
|
|
NM_017739.4(POMGNT1):c.653-7C>T
|
|
|
NM_017739.4(POMGNT1):c.656C>T (p.Pro219Leu)
|
rs1244157163
|
|
NM_017739.4(POMGNT1):c.657T>C (p.Pro219=)
|
|
|
NM_017739.4(POMGNT1):c.658G>A (p.Val220Ile)
|
rs1349291334
|
|
NM_017739.4(POMGNT1):c.660C>T (p.Val220=)
|
rs2148202862
|
|
NM_017739.4(POMGNT1):c.663C>T (p.Phe221=)
|
rs773920830
|
|
NM_017739.4(POMGNT1):c.664G>C (p.Gly222Arg)
|
|
|
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys)
|
rs386834036
|
|
NM_017739.4(POMGNT1):c.669G>C (p.Glu223Asp)
|
rs1658072717
|
|
NM_017739.4(POMGNT1):c.672A>G (p.Lys224=)
|
rs2148202699
|
|
NM_017739.4(POMGNT1):c.679_681delinsG (p.Lys227fs)
|
|
|
NM_017739.4(POMGNT1):c.686C>T (p.Pro229Leu)
|
|
|
NM_017739.4(POMGNT1):c.688G>A (p.Ala230Thr)
|
|
|
NM_017739.4(POMGNT1):c.689C>G (p.Ala230Gly)
|
rs921366442
|
|
NM_017739.4(POMGNT1):c.693C>A (p.Leu231=)
|
rs1341096609
|
|
NM_017739.4(POMGNT1):c.693C>T (p.Leu231=)
|
rs1341096609
|
|
NM_017739.4(POMGNT1):c.699del (p.Trp234fs)
|
|
|
NM_017739.4(POMGNT1):c.6C>G (p.Asp2Glu)
|
|
|
NM_017739.4(POMGNT1):c.6C>T (p.Asp2=)
|
rs375238770
|
|
NM_017739.4(POMGNT1):c.702G>A (p.Trp234Ter)
|
|
|
NM_017739.4(POMGNT1):c.703G>A (p.Gly235Arg)
|
rs1658069732
|
|
NM_017739.4(POMGNT1):c.706G>A (p.Asp236Asn)
|
|
|
NM_017739.4(POMGNT1):c.706G>C (p.Asp236His)
|
rs201525710
|
|
NM_017739.4(POMGNT1):c.70A>G (p.Thr24Ala)
|
rs766907690
|
|
NM_017739.4(POMGNT1):c.711A>T (p.Pro237=)
|
|
|
NM_017739.4(POMGNT1):c.714C>A (p.Val238=)
|
rs753911656
|
|
NM_017739.4(POMGNT1):c.714C>T (p.Val238=)
|
|
|
NM_017739.4(POMGNT1):c.717G>A (p.Leu239=)
|
|
|
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg)
|
rs2148202208
|
|
NM_017739.4(POMGNT1):c.727_728del (p.Asp243fs)
|
|
|
NM_017739.4(POMGNT1):c.72C>T (p.Thr24=)
|
|
|
NM_017739.4(POMGNT1):c.730G>A (p.Val244Met)
|
|
|
NM_017739.4(POMGNT1):c.732del (p.Pro245fs)
|
|
|
NM_017739.4(POMGNT1):c.747A>C (p.Ala249=)
|
rs774008151
|
|
NM_017739.4(POMGNT1):c.749A>G (p.Glu250Gly)
|
|
|
NM_017739.4(POMGNT1):c.74_75delinsTT (p.Trp25Phe)
|
rs2148222600
|
|
NM_017739.4(POMGNT1):c.751+11_751+13dup
|
|
|
NM_017739.4(POMGNT1):c.751+17A>T
|
|
|
NM_017739.4(POMGNT1):c.751+18T>C
|
|
|
NM_017739.4(POMGNT1):c.751+2T>G
|
|
|
NM_017739.4(POMGNT1):c.751+3G>A
|
|
|
NM_017739.4(POMGNT1):c.751+8T>C
|
rs1553163692
|
|
NM_017739.4(POMGNT1):c.751+9A>G
|
rs1658063475
|
|
NM_017739.4(POMGNT1):c.751+9A>T
|
|
|
NM_017739.4(POMGNT1):c.751G>A (p.Glu251Lys)
|
rs2148201993
|
|
NM_017739.4(POMGNT1):c.752-11C>A
|
rs2148200827
|
|
NM_017739.4(POMGNT1):c.752-17C>T
|
|
|
NM_017739.4(POMGNT1):c.752-18A>C
|
|
|
NM_017739.4(POMGNT1):c.752-18A>G
|
|
|
NM_017739.4(POMGNT1):c.752-19_752-18del
|
rs2148200928
|
|
NM_017739.4(POMGNT1):c.752-2A>G
|
rs1236287516
|
|
NM_017739.4(POMGNT1):c.752A>T (p.Glu251Val)
|
rs2148200734
|
|
NM_017739.4(POMGNT1):c.756A>G (p.Ala252=)
|
rs1658047083
|
|
NM_017739.4(POMGNT1):c.75G>A (p.Trp25Ter)
|
rs1264635358
|
|
NM_017739.4(POMGNT1):c.75del (p.Thr24_Trp25insTer)
|
rs2148222613
|
|
NM_017739.4(POMGNT1):c.768G>C (p.Trp256Cys)
|
|
|
NM_017739.4(POMGNT1):c.771A>G (p.Ala257=)
|
|
|
NM_017739.4(POMGNT1):c.780G>C (p.Glu260Asp)
|
|
|
NM_017739.4(POMGNT1):c.781C>T (p.Leu261=)
|
rs2148200441
|
|
NM_017739.4(POMGNT1):c.782T>C (p.Leu261Pro)
|
|
|
NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro)
|
rs386834010
|
|
NM_017739.4(POMGNT1):c.796C>A (p.Arg266=)
|
|
|
NM_017739.4(POMGNT1):c.7G>C (p.Asp3His)
|
rs201637813
|
|
NM_017739.4(POMGNT1):c.804C>T (p.Phe268=)
|
rs745902096
|
|
NM_017739.4(POMGNT1):c.806G>A (p.Cys269Tyr)
|
rs386834037
|
|
NM_017739.4(POMGNT1):c.808A>G (p.Ser270Gly)
|
rs1216011919
|
|
NM_017739.4(POMGNT1):c.81T>C (p.Tyr27=)
|
|
|
NM_017739.4(POMGNT1):c.821G>A (p.Gly274Asp)
|
rs1557674820
|
|
NM_017739.4(POMGNT1):c.831T>C (p.Ser277=)
|
rs2148199823
|
|
NM_017739.4(POMGNT1):c.834A>T (p.Val278=)
|
rs1299228802
|
|
NM_017739.4(POMGNT1):c.842G>T (p.Cys281Phe)
|
rs1658035130
|
|
NM_017739.4(POMGNT1):c.855A>G (p.Thr285=)
|
rs2148199636
|
|
NM_017739.4(POMGNT1):c.857C>A (p.Pro286His)
|
|
|
NM_017739.4(POMGNT1):c.862G>T (p.Glu288Ter)
|
|
|
NM_017739.4(POMGNT1):c.871C>T (p.Pro291Ser)
|
|
|
NM_017739.4(POMGNT1):c.873T>C (p.Pro291=)
|
|
|
NM_017739.4(POMGNT1):c.874G>C (p.Asp292His)
|
rs930277247
|
|
NM_017739.4(POMGNT1):c.875del (p.Asp292fs)
|
rs1057517247
|
|
NM_017739.4(POMGNT1):c.876C>T (p.Asp292=)
|
rs1658032176
|
|
NM_017739.4(POMGNT1):c.878del (p.Pro293fs)
|
rs752389406
|
|
NM_017739.4(POMGNT1):c.879+19C>T
|
|
|
NM_017739.4(POMGNT1):c.879+1G>C
|
rs1553163590
|
|
NM_017739.4(POMGNT1):c.879+2T>C
|
rs1057516318
|
|
NM_017739.4(POMGNT1):c.879+2T>G
|
|
|
NM_017739.4(POMGNT1):c.879+5G>A
|
rs386834038
|
|
NM_017739.4(POMGNT1):c.879+5G>T
|
rs386834038
|
|
NM_017739.4(POMGNT1):c.879+9G>T
|
rs1413491009
|
|
NM_017739.4(POMGNT1):c.87_90dup (p.Asn31fs)
|
|
|
NM_017739.4(POMGNT1):c.880-13A>C
|
|
|
NM_017739.4(POMGNT1):c.880-13A>G
|
|
|
NM_017739.4(POMGNT1):c.880-16G>A
|
rs1658001956
|
|
NM_017739.4(POMGNT1):c.880-17C>T
|
|
|
NM_017739.4(POMGNT1):c.880-1G>A
|
rs1317832573
|
|
NM_017739.4(POMGNT1):c.880-1G>C
|
rs1317832573
|
|
NM_017739.4(POMGNT1):c.880-2A>G
|
rs1057516830
|
|
NM_017739.4(POMGNT1):c.880-6C>T
|
rs1557674387
|
|
NM_017739.4(POMGNT1):c.880-7C>T
|
|
|
NM_017739.4(POMGNT1):c.880-9C>T
|
rs994516915
|
|
NM_017739.4(POMGNT1):c.882C>G (p.Leu294=)
|
rs374590423
|
|
NM_017739.4(POMGNT1):c.882C>T (p.Leu294=)
|
|
|
NM_017739.4(POMGNT1):c.888C>T (p.Asp296=)
|
rs369970994
|
|
NM_017739.4(POMGNT1):c.913G>T (p.Ala305Ser)
|
|
|
NM_017739.4(POMGNT1):c.914C>T (p.Ala305Val)
|
rs2148196499
|
|
NM_017739.4(POMGNT1):c.915T>C (p.Ala305=)
|
|
|
NM_017739.4(POMGNT1):c.921T>A (p.Ile307=)
|
rs71653997
|
|
NM_017739.4(POMGNT1):c.927G>T (p.Gly309=)
|
rs1375679237
|
|
NM_017739.4(POMGNT1):c.931C>G (p.Arg311Gly)
|
|
|
NM_017739.4(POMGNT1):c.932G>C (p.Arg311Pro)
|
|
|
NM_017739.4(POMGNT1):c.936C>T (p.Pro312=)
|
|
|
NM_017739.4(POMGNT1):c.937A>C (p.Asn313His)
|
|
|
NM_017739.4(POMGNT1):c.938A>G (p.Asn313Ser)
|
|
|
NM_017739.4(POMGNT1):c.948C>T (p.Tyr316=)
|
|
|
NM_017739.4(POMGNT1):c.94C>T (p.Gln32Ter)
|
|
|
NM_017739.4(POMGNT1):c.94del (p.Gln32fs)
|
|
|
NM_017739.4(POMGNT1):c.950+15G>A
|
|
|
NM_017739.4(POMGNT1):c.950+17G>A
|
|
|
NM_017739.4(POMGNT1):c.950+17G>C
|
|
|
NM_017739.4(POMGNT1):c.950+17G>T
|
|
|
NM_017739.4(POMGNT1):c.950+19T>C
|
|
|
NM_017739.4(POMGNT1):c.950G>A (p.Arg317Lys)
|
rs1657992159
|
|
NM_017739.4(POMGNT1):c.951-15C>T
|
|
|
NM_017739.4(POMGNT1):c.951-16T>C
|
|
|
NM_017739.4(POMGNT1):c.951-19C>G
|
|
|
NM_017739.4(POMGNT1):c.951-20C>T
|
|
|
NM_017739.4(POMGNT1):c.951-4C>T
|
rs2148194982
|
|
NM_017739.4(POMGNT1):c.951-5C>T
|
|
|
NM_017739.4(POMGNT1):c.951-6C>T
|
|
|
NM_017739.4(POMGNT1):c.951-8C>G
|
|
|
NM_017739.4(POMGNT1):c.951-9G>T
|
|
|
NM_017739.4(POMGNT1):c.960C>T (p.Arg320=)
|
rs146933218
|
|
NM_017739.4(POMGNT1):c.964_965del (p.Leu322fs)
|
|
|
NM_017739.4(POMGNT1):c.96G>A (p.Gln32=)
|
|
|
NM_017739.4(POMGNT1):c.97C>T (p.Arg33Trp)
|
rs750839370
|
|
NM_017739.4(POMGNT1):c.981G>A (p.Gly327=)
|
|
|
NM_017739.4(POMGNT1):c.981G>C (p.Gly327=)
|
rs1281332311
|
|
NM_017739.4(POMGNT1):c.982dup (p.Val328fs)
|
rs386834040
|
|
NM_017739.4(POMGNT1):c.987del (p.Pro330fs)
|
rs1057516955
|
|
NM_017739.4(POMGNT1):c.990_991insAA (p.Gln331fs)
|
|
|
NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter)
|
rs1557673817
|
|
NM_017739.4(POMGNT1):c.997A>G (p.Ile333Val)
|
|
|
NM_017739.4(POMGNT1):c.99G>A (p.Arg33=)
|
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_020451.2(SELENON):c.-55_183del
|
rs1572226620
|
|
NM_020451.2(SELENON):c.-64_36del
|
rs1572226578
|
|
NM_020451.2(SELENON):c.1385G>A (p.Sec462=)
|
rs587776597
|
|
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.1109C>T (p.Thr370Met)
|
|
|
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.1168del (p.Leu390fs)
|
|
|
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.1176del (p.Glu394fs)
|
|
|
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.1222G>T (p.Glu408Ter)
|
|
|
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.1282-13G>A
|
|
|
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.1350C>G (p.Ile450Met)
|
rs797045949
|
|
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.1384T>G
|
rs121908187
|
|
NM_020451.3(SELENON):c.1386A>G
|
rs1557433091
|
|
NM_020451.3(SELENON):c.1387+14C>G
|
|
|
NM_020451.3(SELENON):c.1387+1G>A
|
rs2047977957
|
|
NM_020451.3(SELENON):c.1388-12C>T
|
|
|
NM_020451.3(SELENON):c.1388-1G>C
|
|
|
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.1446del (p.Asn483fs)
|
rs2124454648
|
|
NM_020451.3(SELENON):c.1450G>A (p.Glu484Lys)
|
rs727504149
|
|
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.1499dup (p.Asn501fs)
|
|
|
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.1567G>A (p.Val523Met)
|
|
|
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.200C>A (p.Thr67Asn)
|
|
|
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.273G>C (p.Glu91Asp)
|
|
|
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.600_601del (p.Phe201fs)
|
|
|
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.635C>T (p.Pro212Leu)
|
|
|
NM_020451.3(SELENON):c.636G>A (p.Pro212=)
|
|
|
NM_020451.3(SELENON):c.643del (p.Gln215fs)
|
rs2047931126
|
|
NM_020451.3(SELENON):c.650T>C (p.Leu217Pro)
|
|
|
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.69_76dup (p.Arg26fs)
|
|
|
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.773del (p.Met258fs)
|
|
|
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.816G>C (p.Gln272His)
|
|
|
NM_020451.3(SELENON):c.817G>A (p.Gly273Arg)
|
rs2124448034
|
|
NM_020451.3(SELENON):c.818G>A (p.Gly273Glu)
|
rs121908182
|
|
NM_020451.3(SELENON):c.820G>C (p.Ala274Pro)
|
|
|
NM_020451.3(SELENON):c.821C>G (p.Ala274Gly)
|
|
|
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)
|
rs797045950
|
|
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.872+1G>A
|
rs2047936719
|
|
NM_020451.3(SELENON):c.872+2T>C
|
rs794727808
|
|
NM_020451.3(SELENON):c.873-2A>G
|
rs1176143542
|
|
NM_020451.3(SELENON):c.875T>A (p.Ile292Asn)
|
rs2047941221
|
|
NM_020451.3(SELENON):c.877C>T (p.His293Tyr)
|
|
|
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_021971.2(GMPPB):c.[1000G>A];[951+1G>A]
|
|
|
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)
|
rs397509422
|
|
NM_021971.4(GMPPB):c.1009T>C (p.Tyr337His)
|
rs1553691683
|
|
NM_021971.4(GMPPB):c.1026C>T (p.Ser342=)
|
|
|
NM_021971.4(GMPPB):c.1027G>A (p.Val343Met)
|
|
|
NM_021971.4(GMPPB):c.1036C>T (p.His346Tyr)
|
|
|
NM_021971.4(GMPPB):c.1039_1042dup (p.Ser348Ter)
|
rs1210040661
|
|
NM_021971.4(GMPPB):c.1040A>G (p.Lys347Arg)
|
rs776117691
|
|
NM_021971.4(GMPPB):c.1046T>C (p.Ile349Thr)
|
|
|
NM_021971.4(GMPPB):c.1051_1054dup (p.Ser352Ter)
|
|
|
NM_021971.4(GMPPB):c.106C>T (p.His36Tyr)
|
|
|
NM_021971.4(GMPPB):c.1071T>A (p.Arg357=)
|
|
|
NM_021971.4(GMPPB):c.1077C>G (p.Ile359Met)
|
rs1553691662
|
|
NM_021971.4(GMPPB):c.1082G>A (p.Ter361=)
|
|
|
NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter)
|
rs1348189028
|
|
NM_021971.4(GMPPB):c.116A>G (p.Glu39Gly)
|
rs1575297274
|
|
NM_021971.4(GMPPB):c.128C>T (p.Ala43Val)
|
rs2080459950
|
|
NM_021971.4(GMPPB):c.129+1G>T
|
rs2108213393
|
|
NM_021971.4(GMPPB):c.129+3A>G
|
|
|
NM_021971.4(GMPPB):c.129+6A>C
|
|
|
NM_021971.4(GMPPB):c.129+7C>T
|
rs748350135
|
|
NM_021971.4(GMPPB):c.129G>A (p.Ala43=)
|
rs2108213396
|
|
NM_021971.4(GMPPB):c.130-2A>C
|
|
|
NM_021971.4(GMPPB):c.132_141del (p.Gly45fs)
|
|
|
NM_021971.4(GMPPB):c.135C>T (p.Gly45=)
|
rs1426684077
|
|
NM_021971.4(GMPPB):c.150C>T (p.Ile50=)
|
|
|
NM_021971.4(GMPPB):c.159G>T (p.Val53=)
|
rs1575296935
|
|
NM_021971.4(GMPPB):c.15C>A (p.Ile5=)
|
rs1464233491
|
|
NM_021971.4(GMPPB):c.15C>G (p.Ile5Met)
|
rs1464233491
|
|
NM_021971.4(GMPPB):c.170_171delinsTC (p.Ser57Phe)
|
|
|
NM_021971.4(GMPPB):c.183G>C (p.Glu61Asp)
|
|
|
NM_021971.4(GMPPB):c.188A>C (p.Glu63Ala)
|
|
|
NM_021971.4(GMPPB):c.191T>G (p.Met64Arg)
|
|
|
NM_021971.4(GMPPB):c.210+20C>A
|
rs1360110702
|
|
NM_021971.4(GMPPB):c.210+9_210+10del
|
rs776779111
|
|
NM_021971.4(GMPPB):c.211-13CT[3]
|
|
|
NM_021971.4(GMPPB):c.211-14C>G
|
rs2108212935
|
|
NM_021971.4(GMPPB):c.211-15dup
|
rs368719215
|
|
NM_021971.4(GMPPB):c.211-17G>T
|
|
|
NM_021971.4(GMPPB):c.211-20G>A
|
|
|
NM_021971.4(GMPPB):c.215G>A (p.Gly72Glu)
|
rs1245162935
|
|
NM_021971.4(GMPPB):c.218T>C (p.Ile73Thr)
|
rs1553692045
|
|
NM_021971.4(GMPPB):c.21G>T (p.Val7=)
|
|
|
NM_021971.4(GMPPB):c.220C>T (p.Arg74Ter)
|
rs397509423
|
|
NM_021971.4(GMPPB):c.221G>C (p.Arg74Pro)
|
|
|
NM_021971.4(GMPPB):c.225del (p.Ser76fs)
|
|
|
NM_021971.4(GMPPB):c.244G>A (p.Glu82Lys)
|
|
|
NM_021971.4(GMPPB):c.247C>G (p.Pro83Ala)
|
rs2080451480
|
|
NM_021971.4(GMPPB):c.259+19G>A
|
|
|
NM_021971.4(GMPPB):c.259+3C>G
|
|
|
NM_021971.4(GMPPB):c.259+6T>C
|
rs2080451289
|
|
NM_021971.4(GMPPB):c.259+9A>C
|
rs2108212798
|
|
NM_021971.4(GMPPB):c.260-13C>G
|
|
|
NM_021971.4(GMPPB):c.260-7C>T
|
|
|
NM_021971.4(GMPPB):c.264G>A (p.Gly88=)
|
|
|
NM_021971.4(GMPPB):c.271G>A (p.Ala91Thr)
|
|
|
NM_021971.4(GMPPB):c.271_283del (p.Ala91fs)
|
rs1191822017
|
|
NM_021971.4(GMPPB):c.287_307del (p.Leu96_Asp102del)
|
rs1559697587
|
|
NM_021971.4(GMPPB):c.288A>G (p.Leu96=)
|
|
|
NM_021971.4(GMPPB):c.288_290dup (p.Leu97dup)
|
rs777323266
|
|
NM_021971.4(GMPPB):c.291C>T (p.Leu97=)
|
|
|
NM_021971.4(GMPPB):c.296A>G (p.Glu99Gly)
|
|
|
NM_021971.4(GMPPB):c.297G>C (p.Glu99Asp)
|
|
|
NM_021971.4(GMPPB):c.299C>T (p.Thr100Ile)
|
rs1359728758
|
|
NM_021971.4(GMPPB):c.304G>A (p.Asp102Asn)
|
rs368542417
|
|
NM_021971.4(GMPPB):c.308C>T (p.Pro103Leu)
|
rs875989851
|
|
NM_021971.4(GMPPB):c.312C>A (p.Phe104Leu)
|
|
|
NM_021971.4(GMPPB):c.315C>T (p.Phe105=)
|
rs1354442227
|
|
NM_021971.4(GMPPB):c.331G>A (p.Val111Met)
|
rs141201072
|
|
NM_021971.4(GMPPB):c.338G>A (p.Cys113Tyr)
|
|
|
NM_021971.4(GMPPB):c.340G>T (p.Asp114Tyr)
|
|
|
NM_021971.4(GMPPB):c.358A>G (p.Met120Val)
|
rs1559697515
|
|
NM_021971.4(GMPPB):c.365_366dup (p.Phe123fs)
|
rs1553691975
|
|
NM_021971.4(GMPPB):c.36G>A (p.Thr12=)
|
|
|
NM_021971.4(GMPPB):c.374G>A (p.Arg125Gln)
|
rs758366693
|
|
NM_021971.4(GMPPB):c.388G>A (p.Glu130Lys)
|
rs367734644
|
|
NM_021971.4(GMPPB):c.388_389delinsAG (p.Glu130Arg)
|
rs2080445379
|
|
NM_021971.4(GMPPB):c.38G>T (p.Arg13Leu)
|
rs1183380163
|
|
NM_021971.4(GMPPB):c.402+16T>G
|
|
|
NM_021971.4(GMPPB):c.402+7C>T
|
rs746420101
|
|
NM_021971.4(GMPPB):c.403-10T>G
|
rs998425223
|
|
NM_021971.4(GMPPB):c.403-5T>C
|
rs1559697285
|
|
NM_021971.4(GMPPB):c.433G>A (p.Gly145Ser)
|
rs771732077
|
|
NM_021971.4(GMPPB):c.434G>C (p.Gly145Ala)
|
rs2080436965
|
|
NM_021971.4(GMPPB):c.458_459del (p.Thr153fs)
|
rs1553691918
|
|
NM_021971.4(GMPPB):c.465C>T (p.Arg155=)
|
rs2080436229
|
|
NM_021971.4(GMPPB):c.472C>T (p.Arg158Trp)
|
|
|
NM_021971.4(GMPPB):c.473G>C (p.Arg158Pro)
|
rs374497499
|
|
NM_021971.4(GMPPB):c.478G>C (p.Val160Leu)
|
rs752805529
|
|
NM_021971.4(GMPPB):c.503C>A (p.Ser168Tyr)
|
|
|
NM_021971.4(GMPPB):c.506A>G (p.Asn169Ser)
|
|
|
NM_021971.4(GMPPB):c.510G>C (p.Lys170Asn)
|
rs2080435262
|
|
NM_021971.4(GMPPB):c.524T>C (p.Met175Thr)
|
|
|
NM_021971.4(GMPPB):c.535A>G (p.Ser179Gly)
|
rs2080434558
|
|
NM_021971.4(GMPPB):c.543A>G (p.Ala181=)
|
rs2080434465
|
|
NM_021971.4(GMPPB):c.561+13C>G
|
|
|
NM_021971.4(GMPPB):c.561+14A>G
|
rs1403713701
|
|
NM_021971.4(GMPPB):c.561+18G>A
|
|
|
NM_021971.4(GMPPB):c.562-7C>G
|
rs2108211626
|
|
NM_021971.4(GMPPB):c.563T>C (p.Leu188Pro)
|
rs781132109
|
|
NM_021971.4(GMPPB):c.569C>G (p.Pro190Arg)
|
rs1559697016
|
|
NM_021971.4(GMPPB):c.584A>G (p.Lys195Arg)
|
|
|
NM_021971.4(GMPPB):c.584AGG[1] (p.Glu196del)
|
|
|
NM_021971.4(GMPPB):c.586G>C (p.Glu196Gln)
|
|
|
NM_021971.4(GMPPB):c.589G>T (p.Val197Phe)
|
rs2080431779
|
|
NM_021971.4(GMPPB):c.600T>C (p.Ile200=)
|
|
|
NM_021971.4(GMPPB):c.607_609del (p.Lys203del)
|
rs1553691853
|
|
NM_021971.4(GMPPB):c.612G>A (p.Glu204=)
|
|
|
NM_021971.4(GMPPB):c.614G>A (p.Gly205Glu)
|
|
|
NM_021971.4(GMPPB):c.615G>A (p.Gly205=)
|
|
|
NM_021971.4(GMPPB):c.618G>A (p.Gln206=)
|
rs2108211544
|
|
NM_021971.4(GMPPB):c.618dup (p.Leu207fs)
|
|
|
NM_021971.4(GMPPB):c.619C>T (p.Leu207=)
|
rs2108211541
|
|
NM_021971.4(GMPPB):c.62C>A (p.Thr21Asn)
|
rs1438380704
|
|
NM_021971.4(GMPPB):c.638A>G (p.Gln213Arg)
|
rs2080430729
|
|
NM_021971.4(GMPPB):c.640+15C>T
|
|
|
NM_021971.4(GMPPB):c.640+1G>A
|
rs141588721
|
|
NM_021971.4(GMPPB):c.641-10C>T
|
rs1438419966
|
|
NM_021971.4(GMPPB):c.641-11C>T
|
|
|
NM_021971.4(GMPPB):c.641-14A>C
|
|
|
NM_021971.4(GMPPB):c.641-19_641-9del
|
rs2080428796
|
|
NM_021971.4(GMPPB):c.64C>T (p.Pro22Ser)
|
rs397509424
|
|
NM_021971.4(GMPPB):c.654C>T (p.Asp218=)
|
|
|
NM_021971.4(GMPPB):c.65C>T (p.Pro22Leu)
|
|
|
NM_021971.4(GMPPB):c.663G>A (p.Gln221=)
|
rs2108211356
|
|
NM_021971.4(GMPPB):c.684dup (p.Met229fs)
|
rs2080427976
|
|
NM_021971.4(GMPPB):c.68A>G (p.Lys23Arg)
|
|
|
NM_021971.4(GMPPB):c.699G>A (p.Leu233=)
|
|
|
NM_021971.4(GMPPB):c.714G>T (p.Gln238His)
|
|
|
NM_021971.4(GMPPB):c.71C>T (p.Pro24Leu)
|
rs2108213481
|
|
NM_021971.4(GMPPB):c.728_746delinsACAGA (p.Arg243fs)
|
rs2080426663
|
|
NM_021971.4(GMPPB):c.741C>T (p.Gly247=)
|
rs2108211246
|
|
NM_021971.4(GMPPB):c.746G>A (p.Gly249Asp)
|
rs994922049
|
|
NM_021971.4(GMPPB):c.757A>G (p.Asn253Asp)
|
rs1015055492
|
|
NM_021971.4(GMPPB):c.758A>G (p.Asn253Ser)
|
rs1559696765
|
|
NM_021971.4(GMPPB):c.768+13C>T
|
|
|
NM_021971.4(GMPPB):c.769-10C>G
|
rs2108211080
|
|
NM_021971.4(GMPPB):c.769-20_769-17dup
|
rs764253773
|
|
NM_021971.4(GMPPB):c.769-2A>G
|
rs2080423660
|
|
NM_021971.4(GMPPB):c.786C>G (p.Ile262Met)
|
rs201123231
|
|
NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter)
|
rs763971677
|
|
NM_021971.4(GMPPB):c.792G>C (p.Gln264His)
|
rs1559696652
|
|
NM_021971.4(GMPPB):c.805G>T (p.Gly269Cys)
|
|
|
NM_021971.4(GMPPB):c.813T>C (p.Asn271=)
|
|
|
NM_021971.4(GMPPB):c.819C>T (p.Ser273=)
|
rs774498980
|
|
NM_021971.4(GMPPB):c.827C>T (p.Pro276Leu)
|
rs766298888
|
|
NM_021971.4(GMPPB):c.828T>C (p.Pro276=)
|
rs200706198
|
|
NM_021971.4(GMPPB):c.832G>A (p.Val278Met)
|
|
|
NM_021971.4(GMPPB):c.840C>G (p.Val280=)
|
rs763668055
|
|
NM_021971.4(GMPPB):c.840C>T (p.Val280=)
|
|
|
NM_021971.4(GMPPB):c.841G>A (p.Glu281Lys)
|
|
|
NM_021971.4(GMPPB):c.850G>A (p.Val284Met)
|
rs2108210918
|
|
NM_021971.4(GMPPB):c.854G>T (p.Cys285Phe)
|
rs2108210916
|
|
NM_021971.4(GMPPB):c.854_855del (p.Cys285fs)
|
|
|
NM_021971.4(GMPPB):c.859C>A (p.Arg287=)
|
rs142908436
|
|
NM_021971.4(GMPPB):c.862C>T (p.Arg288Trp)
|
|
|
NM_021971.4(GMPPB):c.863G>C (p.Arg288Pro)
|
rs769346834
|
|
NM_021971.4(GMPPB):c.878G>A (p.Arg293Gln)
|
rs748809549
|
|
NM_021971.4(GMPPB):c.903C>G (p.Ser301=)
|
rs2108210840
|
|
NM_021971.4(GMPPB):c.907C>T (p.Leu303Phe)
|
rs2080420731
|
|
NM_021971.4(GMPPB):c.918C>G (p.Cys306Trp)
|
rs1186936513
|
|
NM_021971.4(GMPPB):c.923T>G (p.Val308Gly)
|
rs750488885
|
|
NM_021971.4(GMPPB):c.927C>A (p.Gly309=)
|
|
|
NM_021971.4(GMPPB):c.929G>T (p.Trp310Leu)
|
|
|
NM_021971.4(GMPPB):c.935G>C (p.Cys312Ser)
|
|
|
NM_021971.4(GMPPB):c.936C>T (p.Cys312=)
|
rs2108210776
|
|
NM_021971.4(GMPPB):c.938G>T (p.Arg313Leu)
|
rs775910135
|
|
NM_021971.4(GMPPB):c.940G>A (p.Val314Met)
|
rs1343235792
|
|
NM_021971.4(GMPPB):c.940G>T (p.Val314Leu)
|
rs1343235792
|
|
NM_021971.4(GMPPB):c.948G>C (p.Gln316His)
|
|
|
NM_021971.4(GMPPB):c.94C>T (p.Pro32Ser)
|
rs1575297292
|
|
NM_021971.4(GMPPB):c.951+18G>T
|
rs2108210687
|
|
NM_021971.4(GMPPB):c.951+9G>T
|
rs55816606
|
|
NM_021971.4(GMPPB):c.951G>A (p.Trp317Ter)
|
|
|
NM_021971.4(GMPPB):c.951G>T (p.Trp317Cys)
|
|
|
NM_021971.4(GMPPB):c.952-12C>T
|
|
|
NM_021971.4(GMPPB):c.952-15T>C
|
|
|
NM_021971.4(GMPPB):c.952-17C>T
|
|
|
NM_021971.4(GMPPB):c.952-21_952-17dup
|
|
|
NM_021971.4(GMPPB):c.952-2A>G
|
rs372512288
|
|
NM_021971.4(GMPPB):c.952-5del
|
|
|
NM_021971.4(GMPPB):c.967G>A (p.Val323Met)
|
rs758284245
|
|
NM_021971.4(GMPPB):c.967G>T (p.Val323Leu)
|
rs758284245
|
|
NM_021971.4(GMPPB):c.972A>G (p.Thr324=)
|
|
|
NM_021971.4(GMPPB):c.972dup (p.Val325fs)
|
|
|
NM_021971.4(GMPPB):c.984G>A (p.Glu328=)
|
rs2108210451
|
|
NM_021971.4(GMPPB):c.997A>T (p.Asn333Tyr)
|
rs2080415182
|
|
NM_024301.5(FKRP):c.-39-2934_564del
|
|
|
NM_024301.5(FKRP):c.1000G>A (p.Glu334Lys)
|
rs2054926451
|
|
NM_024301.5(FKRP):c.1000G>T (p.Glu334Ter)
|
|
|
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup)
|
rs1599938256
|
|
NM_024301.5(FKRP):c.1006G>A (p.Ala336Thr)
|
rs2054926771
|
|
NM_024301.5(FKRP):c.1007C>T (p.Ala336Val)
|
rs1555738924
|
|
NM_024301.5(FKRP):c.1008G>T (p.Ala336=)
|
rs748542420
|
|
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu)
|
rs1173430388
|
|
NM_024301.5(FKRP):c.1014G>C (p.Val338=)
|
rs1405798829
|
|
NM_024301.5(FKRP):c.1015C>A (p.Arg339Ser)
|
rs2122629515
|
|
NM_024301.5(FKRP):c.1015C>G (p.Arg339Gly)
|
|
|
NM_024301.5(FKRP):c.1016G>A (p.Arg339His)
|
rs1450841129
|
|
NM_024301.5(FKRP):c.1016G>C (p.Arg339Pro)
|
|
|
NM_024301.5(FKRP):c.101C>T (p.Ser34Phe)
|
rs1453156955
|
|
NM_024301.5(FKRP):c.1020C>G (p.Tyr340Ter)
|
|
|
NM_024301.5(FKRP):c.1022G>A (p.Trp341Ter)
|
|
|
NM_024301.5(FKRP):c.1026C>A (p.Leu342=)
|
rs1382197287
|
|
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln)
|
rs587780334
|
|
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter)
|
rs587780334
|
|
NM_024301.5(FKRP):c.1029G>A (p.Glu343=)
|
|
|
NM_024301.5(FKRP):c.1032C>A (p.Gly344=)
|
rs767312918
|
|
NM_024301.5(FKRP):c.1038A>T (p.Ser346=)
|
|
|
NM_024301.5(FKRP):c.1039C>T (p.Leu347=)
|
rs2122630246
|
|
NM_024301.5(FKRP):c.103C>T (p.Arg35Trp)
|
rs1157545139
|
|
NM_024301.5(FKRP):c.1041G>A (p.Leu347=)
|
rs1599938600
|
|
NM_024301.5(FKRP):c.1047G>A (p.Gly349=)
|
rs1288093563
|
|
NM_024301.5(FKRP):c.104G>A (p.Arg35Gln)
|
rs754088436
|
|
NM_024301.5(FKRP):c.1051G>A (p.Ala351Thr)
|
rs982005875
|
|
NM_024301.5(FKRP):c.1055G>C (p.Arg352Pro)
|
|
|
NM_024301.5(FKRP):c.1056C>T (p.Arg352=)
|
rs886038682
|
|
NM_024301.5(FKRP):c.1059C>T (p.His353=)
|
rs894313503
|
|
NM_024301.5(FKRP):c.105G>C (p.Arg35=)
|
|
|
NM_024301.5(FKRP):c.1060G>C (p.Gly354Arg)
|
rs565499116
|
|
NM_024301.5(FKRP):c.1062G>A (p.Gly354=)
|
|
|
NM_024301.5(FKRP):c.1065C>T (p.Asp355=)
|
rs2122630697
|
|
NM_024301.5(FKRP):c.1067T>C (p.Ile356Thr)
|
|
|
NM_024301.5(FKRP):c.1075T>C (p.Trp359Arg)
|
rs2054929484
|
|
NM_024301.5(FKRP):c.1075del (p.Trp359fs)
|
rs2122630850
|
|
NM_024301.5(FKRP):c.1077_1078dup (p.Asp360fs)
|
rs1568419860
|
|
NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter)
|
rs1060502109
|
|
NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter)
|
rs1060502109
|
|
NM_024301.5(FKRP):c.1083C>T (p.Tyr361=)
|
|
|
NM_024301.5(FKRP):c.1086C>A (p.Asp362Glu)
|
rs749787381
|
|
NM_024301.5(FKRP):c.1086C>T (p.Asp362=)
|
rs749787381
|
|
NM_024301.5(FKRP):c.1088T>C (p.Val363Ala)
|
rs2054930160
|
|
NM_024301.5(FKRP):c.1092C>T (p.Asp364=)
|
|
|
NM_024301.5(FKRP):c.1098C>T (p.Gly366=)
|
|
|
NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)
|
|
|
NM_024301.5(FKRP):c.1100T>A (p.Ile367Asn)
|
|
|
NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr)
|
rs1555739020
|
|
NM_024301.5(FKRP):c.1101C>T (p.Ile367=)
|
rs1568419920
|
|
NM_024301.5(FKRP):c.1104C>A (p.Tyr368Ter)
|
|
|
NM_024301.5(FKRP):c.1107G>A (p.Leu369=)
|
|
|
NM_024301.5(FKRP):c.110G>A (p.Arg37Gln)
|
rs779317138
|
|
NM_024301.5(FKRP):c.1113C>A (p.Asp371Glu)
|
rs2054930576
|
|
NM_024301.5(FKRP):c.1115T>G (p.Val372Gly)
|
rs771793862
|
|
NM_024301.5(FKRP):c.1117_1124del (p.Gly373fs)
|
|
|
NM_024301.5(FKRP):c.1118G>A (p.Gly373Asp)
|
rs1413156584
|
|
NM_024301.5(FKRP):c.1119C>T (p.Gly373=)
|
|
|
NM_024301.5(FKRP):c.1123T>A (p.Cys375Ser)
|
rs763940706
|
|
NM_024301.5(FKRP):c.1125C>A (p.Cys375Ter)
|
|
|
NM_024301.5(FKRP):c.1131G>A (p.Gln377=)
|
rs2122631741
|
|
NM_024301.5(FKRP):c.1132C>T (p.Leu378=)
|
rs1458891749
|
|
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro)
|
rs140217866
|
|
NM_024301.5(FKRP):c.113G>A (p.Gly38Glu)
|
rs1599933942
|
|
NM_024301.5(FKRP):c.1140G>C (p.Gly380=)
|
rs552260353
|
|
NM_024301.5(FKRP):c.1140G>T (p.Gly380=)
|
rs552260353
|
|
NM_024301.5(FKRP):c.1141G>C (p.Ala381Pro)
|
rs1031408738
|
|
NM_024301.5(FKRP):c.1141G>T (p.Ala381Ser)
|
rs1031408738
|
|
NM_024301.5(FKRP):c.1141del (p.Ala381fs)
|
rs754403441
|
|
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)
|
rs754403441
|
|
NM_024301.5(FKRP):c.1143A>C (p.Ala381=)
|
rs2122632165
|
|
NM_024301.5(FKRP):c.1146G>A (p.Glu382=)
|
|
|
NM_024301.5(FKRP):c.1149C>T (p.Ala383=)
|
rs1489899957
|
|
NM_024301.5(FKRP):c.114G>A (p.Gly38=)
|
rs878855079
|
|
NM_024301.5(FKRP):c.114G>T (p.Gly38=)
|
rs878855079
|
|
NM_024301.5(FKRP):c.1151G>C (p.Gly384Ala)
|
rs2122632279
|
|
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter)
|
rs104894680
|
|
NM_024301.5(FKRP):c.1155G>A (p.Ser385=)
|
rs369432328
|
|
NM_024301.5(FKRP):c.1155G>C (p.Ser385=)
|
|
|
NM_024301.5(FKRP):c.1155G>T (p.Ser385=)
|
|
|
NM_024301.5(FKRP):c.1158G>T (p.Val386=)
|
|
|
NM_024301.5(FKRP):c.115C>T (p.Pro39Ser)
|
rs772667330
|
|
NM_024301.5(FKRP):c.1161G>A (p.Val387=)
|
|
|
NM_024301.5(FKRP):c.1164T>C (p.Asp388=)
|
rs2122632580
|
|
NM_024301.5(FKRP):c.1168C>G (p.Arg390Gly)
|
rs2122632676
|
|
NM_024301.5(FKRP):c.1168_1177dup (p.Val393fs)
|
|
|
NM_024301.5(FKRP):c.1170C>T (p.Arg390=)
|
|
|
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs)
|
rs748087383
|
|
NM_024301.5(FKRP):c.1173C>T (p.Gly391=)
|
rs1277189416
|
|
NM_024301.5(FKRP):c.1177G>C (p.Val393Leu)
|
rs140679502
|
|
NM_024301.5(FKRP):c.1179A>C (p.Val393=)
|
|
|
NM_024301.5(FKRP):c.117C>G (p.Pro39=)
|
|
|
NM_024301.5(FKRP):c.117C>T (p.Pro39=)
|
|
|
NM_024301.5(FKRP):c.1181G>T (p.Trp394Leu)
|
|
|
NM_024301.5(FKRP):c.1183G>A (p.Glu395Lys)
|
rs762944990
|
|
NM_024301.5(FKRP):c.1183G>C (p.Glu395Gln)
|
rs762944990
|
|
NM_024301.5(FKRP):c.1187dup (p.Ala397fs)
|
rs772020161
|
|
NM_024301.5(FKRP):c.118C>A (p.Arg40Ser)
|
|
|
NM_024301.5(FKRP):c.1191G>C (p.Ala397=)
|
rs752767486
|
|
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys)
|
rs1230638385
|
|
NM_024301.5(FKRP):c.1200C>T (p.Gly400=)
|
|
|
NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn)
|
rs1555739117
|
|
NM_024301.5(FKRP):c.1203C>T (p.Asp401=)
|
rs2122633373
|
|
NM_024301.5(FKRP):c.1208dup (p.Arg404fs)
|
|
|
NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)
|
|
|
NM_024301.5(FKRP):c.1211G>A (p.Arg404His)
|
rs2054934225
|
|
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu)
|
rs28937904
|
|
NM_024301.5(FKRP):c.1215G>T (p.Val405=)
|
|
|
NM_024301.5(FKRP):c.1216C>T (p.Gln406Ter)
|
|
|
NM_024301.5(FKRP):c.1217A>C (p.Gln406Pro)
|
|
|
NM_024301.5(FKRP):c.1218G>A (p.Gln406=)
|
rs2122633702
|
|
NM_024301.5(FKRP):c.121C>A (p.Arg41Ser)
|
rs2122609166
|
|
NM_024301.5(FKRP):c.1221C>G (p.Tyr407Ter)
|
|
|
NM_024301.5(FKRP):c.1221C>T (p.Tyr407=)
|
|
|
NM_024301.5(FKRP):c.122G>A (p.Arg41His)
|
rs201497063
|
|
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu)
|
rs201497063
|
|
NM_024301.5(FKRP):c.1233C>T (p.Asn411=)
|
rs1451916862
|
|
NM_024301.5(FKRP):c.1234dup (p.His412fs)
|
rs2122633849
|
|
NM_024301.5(FKRP):c.1236C>G (p.His412Gln)
|
rs201076863
|
|
NM_024301.5(FKRP):c.1237T>C (p.Leu413=)
|
|
|
NM_024301.5(FKRP):c.1238del (p.Leu413fs)
|
rs2054934925
|
|
NM_024301.5(FKRP):c.1240C>A (p.His414Asn)
|
rs2054934982
|
|
NM_024301.5(FKRP):c.1242C>T (p.His414=)
|
rs369599106
|
|
NM_024301.5(FKRP):c.1249C>T (p.Leu417=)
|
rs2122634047
|
|
NM_024301.5(FKRP):c.1251G>A (p.Leu417=)
|
|
|
NM_024301.5(FKRP):c.1256_1257del (p.Pro419fs)
|
rs886043959
|
|
NM_024301.5(FKRP):c.1267del (p.Arg423fs)
|
rs886044083
|
|
NM_024301.5(FKRP):c.1268G>C (p.Arg423Pro)
|
rs886042367
|
|
NM_024301.5(FKRP):c.1269C>A (p.Arg423=)
|
|
|
NM_024301.5(FKRP):c.126C>G (p.Ala42=)
|
rs2122609298
|
|
NM_024301.5(FKRP):c.1272T>C (p.Asn424=)
|
rs2054935900
|
|
NM_024301.5(FKRP):c.1275C>T (p.Gly425=)
|
|
|
NM_024301.5(FKRP):c.1282A>G (p.Thr428Ala)
|
rs886042793
|
|
NM_024301.5(FKRP):c.1287G>A (p.Lys429=)
|
rs2122634715
|
|
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys)
|
rs1555738085
|
|
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)
|
rs1599939853
|
|
NM_024301.5(FKRP):c.1299G>C (p.Leu433=)
|
rs2054936601
|
|
NM_024301.5(FKRP):c.1301A>G (p.Asp434Gly)
|
|
|
NM_024301.5(FKRP):c.1305C>T (p.His435=)
|
rs2122634906
|
|
NM_024301.5(FKRP):c.1307G>A (p.Arg436Gln)
|
rs764311774
|
|
NM_024301.5(FKRP):c.1309C>A (p.Gln437Lys)
|
rs2054936900
|
|
NM_024301.5(FKRP):c.1310A>G (p.Gln437Arg)
|
rs2122635070
|
|
NM_024301.5(FKRP):c.1314T>C (p.Asp438=)
|
|
|
NM_024301.5(FKRP):c.1326C>T (p.Pro442=)
|
|
|
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)
|
|
|
NM_024301.5(FKRP):c.1328A>G (p.Glu443Gly)
|
|
|
NM_024301.5(FKRP):c.1332C>T (p.His444=)
|
rs2122635487
|
|
NM_024301.5(FKRP):c.1335_1336del (p.Leu446fs)
|
rs1384878260
|
|
NM_024301.5(FKRP):c.1336C>T (p.Leu446=)
|
rs1276709308
|
|
NM_024301.5(FKRP):c.1336del (p.Leu446fs)
|
|
|
NM_024301.5(FKRP):c.1338G>A (p.Leu446=)
|
rs936735225
|
|
NM_024301.5(FKRP):c.1339C>T (p.Gln447Ter)
|
|
|
NM_024301.5(FKRP):c.1344G>A (p.Pro448=)
|
rs754446767
|
|
NM_024301.5(FKRP):c.1344G>C (p.Pro448=)
|
rs754446767
|
|
NM_024301.5(FKRP):c.1345C>T (p.Leu449=)
|
rs2122635761
|
|
NM_024301.5(FKRP):c.1346T>C (p.Leu449Pro)
|
|
|
NM_024301.5(FKRP):c.1349T>C (p.Val450Ala)
|
|
|
NM_024301.5(FKRP):c.1353C>T (p.Pro451=)
|
|
|
NM_024301.5(FKRP):c.1354del (p.Leu452fs)
|
rs2122635879
|
|
NM_024301.5(FKRP):c.1358C>T (p.Pro453Leu)
|
rs1206095834
|
|
NM_024301.5(FKRP):c.135C>A (p.Ala45=)
|
rs2287717
|
|
NM_024301.5(FKRP):c.135C>G (p.Ala45=)
|
rs2287717
|
|
NM_024301.5(FKRP):c.1360T>C (p.Phe454Leu)
|
rs2122636001
|
|
NM_024301.5(FKRP):c.1361T>C (p.Phe454Ser)
|
|
|
NM_024301.5(FKRP):c.1363G>A (p.Ala455Thr)
|
rs747785577
|
|
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)
|
rs28937903
|
|
NM_024301.5(FKRP):c.1365C>G (p.Ala455=)
|
|
|
NM_024301.5(FKRP):c.1365C>T (p.Ala455=)
|
rs2122636152
|
|
NM_024301.5(FKRP):c.1366G>A (p.Gly456Ser)
|
rs2054938604
|
|
NM_024301.5(FKRP):c.1368C>T (p.Gly456=)
|
rs1599940206
|
|
NM_024301.5(FKRP):c.1371C>G (p.Phe457Leu)
|
rs1270459605
|
|
NM_024301.5(FKRP):c.1377G>T (p.Ala459=)
|
rs770845177
|
|
NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter)
|
|
|
NM_024301.5(FKRP):c.1383G>A (p.Ala461=)
|
|
|
NM_024301.5(FKRP):c.1383G>C (p.Ala461=)
|
rs759585825
|
|
NM_024301.5(FKRP):c.1385C>T (p.Pro462Leu)
|
|
|
NM_024301.5(FKRP):c.1386T>C (p.Pro462=)
|
rs776825755
|
|
NM_024301.5(FKRP):c.1388A>G (p.Asn463Ser)
|
rs2122636612
|
|
NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile)
|
rs2122636612
|
|
NM_024301.5(FKRP):c.1389C>A (p.Asn463Lys)
|
|
|
NM_024301.5(FKRP):c.1389C>T (p.Asn463=)
|
|
|
NM_024301.5(FKRP):c.138C>T (p.Gly46=)
|
|
|
NM_024301.5(FKRP):c.13C>T (p.Arg5Cys)
|
rs1060502108
|
|
NM_024301.5(FKRP):c.1400G>A (p.Arg467His)
|
rs766839420
|
|
NM_024301.5(FKRP):c.1404C>T (p.Phe468=)
|
|
|
NM_024301.5(FKRP):c.1411C>G (p.Leu471Val)
|
rs2054940038
|
|
NM_024301.5(FKRP):c.1413C>A (p.Leu471=)
|
|
|
NM_024301.5(FKRP):c.1415del (p.Lys472fs)
|
rs1555739280
|
|
NM_024301.5(FKRP):c.1416G>A (p.Lys472=)
|
|
|
NM_024301.5(FKRP):c.1416G>T (p.Lys472Asn)
|
|
|
NM_024301.5(FKRP):c.1419C>T (p.Phe473=)
|
rs868310782
|
|
NM_024301.5(FKRP):c.141C>A (p.Pro47=)
|
|
|
NM_024301.5(FKRP):c.1422G>A (p.Gly474=)
|
rs1363063718
|
|
NM_024301.5(FKRP):c.1422G>T (p.Gly474=)
|
|
|
NM_024301.5(FKRP):c.1424C>T (p.Pro475Leu)
|
rs1468526055
|
|
NM_024301.5(FKRP):c.1428G>T (p.Gly476=)
|
|
|
NM_024301.5(FKRP):c.1429G>A (p.Val477Ile)
|
rs1424035060
|
|
NM_024301.5(FKRP):c.1429del (p.Val477fs)
|
|
|
NM_024301.5(FKRP):c.142C>A (p.Arg48Ser)
|
rs2054892239
|
|
NM_024301.5(FKRP):c.142del (p.Arg48fs)
|
rs1555738103
|
|
NM_024301.5(FKRP):c.142dup (p.Arg48fs)
|
|
|
NM_024301.5(FKRP):c.1432A>G (p.Ile478Val)
|
|
|
NM_024301.5(FKRP):c.1440C>G (p.Asn480Lys)
|
|
|
NM_024301.5(FKRP):c.1442C>A (p.Pro481His)
|
rs727502844
|
|
NM_024301.5(FKRP):c.1443C>G (p.Pro481=)
|
|
|
NM_024301.5(FKRP):c.1443C>T (p.Pro481=)
|
rs2054941502
|
|
NM_024301.5(FKRP):c.1444C>T (p.Gln482Ter)
|
|
|
NM_024301.5(FKRP):c.1444del (p.Gln482fs)
|
|
|
NM_024301.5(FKRP):c.1444dup (p.Gln482fs)
|
|
|
NM_024301.5(FKRP):c.1455C>T (p.Asn485=)
|
|
|
NM_024301.5(FKRP):c.1457C>T (p.Pro486Leu)
|
rs2122637980
|
|
NM_024301.5(FKRP):c.1458G>C (p.Pro486=)
|
rs762008480
|
|
NM_024301.5(FKRP):c.1461A>G (p.Ala487=)
|
rs2122638048
|
|
NM_024301.5(FKRP):c.1466T>G (p.Leu489Arg)
|
rs1555739321
|
|
NM_024301.5(FKRP):c.1468A>G (p.Ser490Gly)
|
|
|
NM_024301.5(FKRP):c.1475C>T (p.Thr492Met)
|
rs1435800457
|
|
NM_024301.5(FKRP):c.1478del (p.Gly493fs)
|
|
|
NM_024301.5(FKRP):c.1482C>T (p.Ser494=)
|
rs373244438
|
|
NM_024301.5(FKRP):c.150C>T (p.Thr50=)
|
|
|
NM_024301.5(FKRP):c.151G>C (p.Val51Leu)
|
|
|
NM_024301.5(FKRP):c.151G>T (p.Val51Phe)
|
rs769377092
|
|
NM_024301.5(FKRP):c.157G>A (p.Val53Met)
|
|
|
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)
|
rs1290836394
|
|
NM_024301.5(FKRP):c.15C>A (p.Arg5=)
|
rs1221940943
|
|
NM_024301.5(FKRP):c.160C>G (p.Arg54Gly)
|
|
|
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)
|
rs28937905
|
|
NM_024301.5(FKRP):c.161G>A (p.Arg54Gln)
|
rs2122609879
|
|
NM_024301.5(FKRP):c.162G>A (p.Arg54=)
|
|
|
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)
|
rs886042506
|
|
NM_024301.5(FKRP):c.163G>A (p.Glu55Lys)
|
rs2122609947
|
|
NM_024301.5(FKRP):c.168C>T (p.Phe56=)
|
rs1443120812
|
|
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys)
|
rs773024545
|
|
NM_024301.5(FKRP):c.16T>C (p.Cys6Arg)
|
rs2122606907
|
|
NM_024301.5(FKRP):c.177T>C (p.Phe59=)
|
rs2122610182
|
|
NM_024301.5(FKRP):c.178_199del (p.Phe59_Asp60insTer)
|
|
|
NM_024301.5(FKRP):c.180C>G (p.Asp60Glu)
|
|
|
NM_024301.5(FKRP):c.183C>G (p.Asn61Lys)
|
rs759539583
|
|
NM_024301.5(FKRP):c.185C>T (p.Ala62Val)
|
rs1448177835
|
|
NM_024301.5(FKRP):c.186G>C (p.Ala62=)
|
rs764225864
|
|
NM_024301.5(FKRP):c.188T>C (p.Val63Ala)
|
rs2122610495
|
|
NM_024301.5(FKRP):c.192C>G (p.Pro64=)
|
rs111754012
|
|
NM_024301.5(FKRP):c.198G>A (p.Leu66=)
|
rs2054893764
|
|
NM_024301.5(FKRP):c.1A>C (p.Met1Leu)
|
rs587777223
|
|
NM_024301.5(FKRP):c.1A>G (p.Met1Val)
|
rs587777223
|
|
NM_024301.5(FKRP):c.201A>G (p.Val67=)
|
rs2122610711
|
|
NM_024301.5(FKRP):c.205T>G (p.Ser69Ala)
|
|
|
NM_024301.5(FKRP):c.206C>T (p.Ser69Phe)
|
rs1555738197
|
|
NM_024301.5(FKRP):c.206_208del (p.Ser69del)
|
rs2054893955
|
|
NM_024301.5(FKRP):c.211C>A (p.Leu71Met)
|
|
|
NM_024301.5(FKRP):c.211C>T (p.Leu71=)
|
rs2122610964
|
|
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter)
|
rs1555738201
|
|
NM_024301.5(FKRP):c.216G>A (p.Gln72=)
|
|
|
NM_024301.5(FKRP):c.217C>T (p.Gln73Ter)
|
|
|
NM_024301.5(FKRP):c.218A>G (p.Gln73Arg)
|
rs2122611023
|
|
NM_024301.5(FKRP):c.224del (p.Pro75fs)
|
rs779619633
|
|
NM_024301.5(FKRP):c.225A>T (p.Pro75=)
|
|
|
NM_024301.5(FKRP):c.228C>A (p.Ala76=)
|
|
|
NM_024301.5(FKRP):c.228C>T (p.Ala76=)
|
rs780639027
|
|
NM_024301.5(FKRP):c.230A>G (p.Gln77Arg)
|
rs2122611366
|
|
NM_024301.5(FKRP):c.230_234del (p.Gln77fs)
|
|
|
NM_024301.5(FKRP):c.230_234dup (p.Val79fs)
|
rs1555738204
|
|
NM_024301.5(FKRP):c.235G>C (p.Val79Leu)
|
rs104894683
|
|
NM_024301.5(FKRP):c.236TGG[2] (p.Val81del)
|
rs2054894857
|
|
NM_024301.5(FKRP):c.237G>A (p.Val79=)
|
|
|
NM_024301.5(FKRP):c.238G>A (p.Val80Met)
|
|
|
NM_024301.5(FKRP):c.240G>A (p.Val80=)
|
|
|
NM_024301.5(FKRP):c.245C>T (p.Ala82Val)
|
rs966960260
|
|
NM_024301.5(FKRP):c.246A>T (p.Ala82=)
|
|
|
NM_024301.5(FKRP):c.251A>G (p.Asp84Gly)
|
rs2122611834
|
|
NM_024301.5(FKRP):c.252C>T (p.Asp84=)
|
rs1171443074
|
|
NM_024301.5(FKRP):c.255G>C (p.Thr85=)
|
rs2054895437
|
|
NM_024301.5(FKRP):c.261del (p.Tyr88fs)
|
|
|
NM_024301.5(FKRP):c.264C>T (p.Tyr88=)
|
rs1057520771
|
|
NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)
|
|
|
NM_024301.5(FKRP):c.267G>A (p.Pro89=)
|
rs774192252
|
|
NM_024301.5(FKRP):c.267G>T (p.Pro89=)
|
|
|
NM_024301.5(FKRP):c.26C>T (p.Ala9Val)
|
|
|
NM_024301.5(FKRP):c.270C>A (p.Pro90=)
|
rs1276432637
|
|
NM_024301.5(FKRP):c.270C>T (p.Pro90=)
|
|
|
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup)
|
rs1220815256
|
|
NM_024301.5(FKRP):c.27C>T (p.Ala9=)
|
|
|
NM_024301.5(FKRP):c.280C>T (p.Pro94Ser)
|
|
|
NM_024301.5(FKRP):c.281C>A (p.Pro94His)
|
rs925430989
|
|
NM_024301.5(FKRP):c.282C>G (p.Pro94=)
|
|
|
NM_024301.5(FKRP):c.282C>T (p.Pro94=)
|
rs1267805674
|
|
NM_024301.5(FKRP):c.291C>T (p.Pro97=)
|
rs1215872713
|
|
NM_024301.5(FKRP):c.292A>T (p.Asn98Tyr)
|
rs1268536934
|
|
NM_024301.5(FKRP):c.293A>G (p.Asn98Ser)
|
|
|
NM_024301.5(FKRP):c.294C>T (p.Asn98=)
|
|
|
NM_024301.5(FKRP):c.295del (p.Val99fs)
|
|
|
NM_024301.5(FKRP):c.299G>C (p.Arg100Pro)
|
rs1174581828
|
|
NM_024301.5(FKRP):c.305C>A (p.Ala102Glu)
|
rs1473327480
|
|
NM_024301.5(FKRP):c.30GGC[1] (p.Ala13del)
|
rs2122607119
|
|
NM_024301.5(FKRP):c.313C>G (p.Gln105Glu)
|
rs761821795
|
|
NM_024301.5(FKRP):c.316_317insACGCCCTGGACCGGC (p.Gln105_Pro106insHisAlaLeuAspArg)
|
|
|
NM_024301.5(FKRP):c.318C>A (p.Pro106=)
|
|
|
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser)
|
rs750679682
|
|
NM_024301.5(FKRP):c.324G>A (p.Leu108=)
|
rs2054898950
|
|
NM_024301.5(FKRP):c.330G>T (p.Arg110=)
|
|
|
NM_024301.5(FKRP):c.333A>C (p.Pro111=)
|
rs2122613470
|
|
NM_024301.5(FKRP):c.336C>G (p.Ala112=)
|
rs1054339656
|
|
NM_024301.5(FKRP):c.344C>G (p.Ser115Trp)
|
rs752018916
|
|
NM_024301.5(FKRP):c.345G>A (p.Ser115=)
|
rs1356142931
|
|
NM_024301.5(FKRP):c.346C>T (p.Arg116Cys)
|
|
|
NM_024301.5(FKRP):c.347G>A (p.Arg116His)
|
|
|
NM_024301.5(FKRP):c.349C>T (p.Pro117Ser)
|
|
|
NM_024301.5(FKRP):c.350C>G (p.Pro117Arg)
|
|
|
NM_024301.5(FKRP):c.350C>T (p.Pro117Leu)
|
|
|
NM_024301.5(FKRP):c.351G>A (p.Pro117=)
|
rs1060504470
|
|
NM_024301.5(FKRP):c.352G>T (p.Glu118Ter)
|
|
|
NM_024301.5(FKRP):c.357C>G (p.Thr119=)
|
|
|
NM_024301.5(FKRP):c.363G>A (p.Val121=)
|
|
|
NM_024301.5(FKRP):c.364G>A (p.Ala122Thr)
|
rs1060502111
|
|
NM_024301.5(FKRP):c.371A>G (p.Glu124Gly)
|
rs1457269190
|
|
NM_024301.5(FKRP):c.372G>C (p.Glu124Asp)
|
|
|
NM_024301.5(FKRP):c.374T>C (p.Phe125Ser)
|
rs886042355
|
|
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr)
|
rs768376273
|
|
NM_024301.5(FKRP):c.385G>C (p.Val129Leu)
|
rs747642602
|
|
NM_024301.5(FKRP):c.386T>A (p.Val129Glu)
|
rs1599934959
|
|
NM_024301.5(FKRP):c.387A>G (p.Val129=)
|
|
|
NM_024301.5(FKRP):c.390T>C (p.Pro130=)
|
rs2122614420
|
|
NM_024301.5(FKRP):c.390T>G (p.Pro130=)
|
|
|
NM_024301.5(FKRP):c.394G>C (p.Gly132Arg)
|
rs900304726
|
|
NM_024301.5(FKRP):c.395G>A (p.Gly132Glu)
|
rs755588907
|
|
NM_024301.5(FKRP):c.396G>A (p.Gly132=)
|
|
|
NM_024301.5(FKRP):c.397G>T (p.Ala133Ser)
|
rs1555738380
|
|
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp)
|
rs104894690
|
|
NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer)
|
rs886041004
|
|
NM_024301.5(FKRP):c.403G>A (p.Ala135Thr)
|
|
|
NM_024301.5(FKRP):c.403G>T (p.Ala135Ser)
|
rs748928675
|
|
NM_024301.5(FKRP):c.404C>T (p.Ala135Val)
|
|
|
NM_024301.5(FKRP):c.411A>C (p.Ala137=)
|
rs2122614859
|
|
NM_024301.5(FKRP):c.413C>T (p.Pro138Leu)
|
|
|
NM_024301.5(FKRP):c.414T>C (p.Pro138=)
|
rs2122614914
|
|
NM_024301.5(FKRP):c.420G>A (p.Leu140=)
|
rs2122615035
|
|
NM_024301.5(FKRP):c.423G>C (p.Leu141=)
|
rs2122615075
|
|
NM_024301.5(FKRP):c.427C>T (p.Arg143Cys)
|
rs148206382
|
|
NM_024301.5(FKRP):c.428G>A (p.Arg143His)
|
|
|
NM_024301.5(FKRP):c.428G>C (p.Arg143Pro)
|
rs1201804052
|
|
NM_024301.5(FKRP):c.428G>T (p.Arg143Leu)
|
|
|
NM_024301.5(FKRP):c.430A>G (p.Met144Val)
|
rs1568418007
|
|
NM_024301.5(FKRP):c.431T>G (p.Met144Arg)
|
|
|
NM_024301.5(FKRP):c.433G>A (p.Val145Met)
|
rs2054903007
|
|
NM_024301.5(FKRP):c.433_455del (p.Val145fs)
|
|
|
NM_024301.5(FKRP):c.438G>A (p.Glu146=)
|
rs2122615356
|
|
NM_024301.5(FKRP):c.441G>A (p.Ala147=)
|
rs1185093260
|
|
NM_024301.5(FKRP):c.441G>T (p.Ala147=)
|
rs1185093260
|
|
NM_024301.5(FKRP):c.444C>T (p.Leu148=)
|
rs1391808700
|
|
NM_024301.5(FKRP):c.447_451del (p.Ala150fs)
|
|
|
NM_024301.5(FKRP):c.448G>A (p.Ala150Thr)
|
|
|
NM_024301.5(FKRP):c.44C>T (p.Thr15Ile)
|
rs2054889166
|
|
NM_024301.5(FKRP):c.452G>C (p.Gly151Ala)
|
rs1171700980
|
|
NM_024301.5(FKRP):c.456C>T (p.Ser152=)
|
rs199714523
|
|
NM_024301.5(FKRP):c.45C>T (p.Thr15=)
|
|
|
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)
|
rs727502842
|
|
NM_024301.5(FKRP):c.470C>G (p.Ala157Gly)
|
rs2122616000
|
|
NM_024301.5(FKRP):c.471C>A (p.Ala157=)
|
rs1366423719
|
|
NM_024301.5(FKRP):c.471C>T (p.Ala157=)
|
rs1366423719
|
|
NM_024301.5(FKRP):c.472G>A (p.Ala158Thr)
|
rs2054905075
|
|
NM_024301.5(FKRP):c.474C>A (p.Ala158=)
|
|
|
NM_024301.5(FKRP):c.477G>A (p.Pro159=)
|
rs1599935385
|
|
NM_024301.5(FKRP):c.477G>C (p.Pro159=)
|
|
|
NM_024301.5(FKRP):c.478G>T (p.Val160Phe)
|
rs1314476567
|
|
NM_024301.5(FKRP):c.487G>A (p.Ala163Thr)
|
|
|
NM_024301.5(FKRP):c.488C>G (p.Ala163Gly)
|
rs2122616447
|
|
NM_024301.5(FKRP):c.491A>G (p.Asn164Ser)
|
rs1008630400
|
|
NM_024301.5(FKRP):c.497C>G (p.Ala166Gly)
|
|
|
NM_024301.5(FKRP):c.498C>T (p.Ala166=)
|
rs763245394
|
|
NM_024301.5(FKRP):c.4C>A (p.Arg2=)
|
|
|
NM_024301.5(FKRP):c.501G>A (p.Arg167=)
|
rs2054906317
|
|
NM_024301.5(FKRP):c.501_502delinsCC (p.Arg167_Cys168delinsSerArg)
|
rs2122616718
|
|
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg)
|
rs1555738483
|
|
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr)
|
rs554813030
|
|
NM_024301.5(FKRP):c.511C>G (p.Leu171Val)
|
rs766747690
|
|
NM_024301.5(FKRP):c.511C>T (p.Leu171=)
|
rs766747690
|
|
NM_024301.5(FKRP):c.511_523del (p.Leu171fs)
|
rs1314297056
|
|
NM_024301.5(FKRP):c.515dup (p.Asn172fs)
|
rs2122617005
|
|
NM_024301.5(FKRP):c.516C>A (p.Asn172Lys)
|
|
|
NM_024301.5(FKRP):c.516C>T (p.Asn172=)
|
rs970724879
|
|
NM_024301.5(FKRP):c.522C>T (p.Ser174=)
|
rs1599935593
|
|
NM_024301.5(FKRP):c.525G>A (p.Leu175=)
|
rs2054907207
|
|
NM_024301.5(FKRP):c.525G>T (p.Leu175=)
|
rs2054907207
|
|
NM_024301.5(FKRP):c.526C>A (p.Arg176=)
|
rs1555738502
|
|
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)
|
rs1555738502
|
|
NM_024301.5(FKRP):c.527G>A (p.Arg176Gln)
|
rs755316345
|
|
NM_024301.5(FKRP):c.529G>A (p.Glu177Lys)
|
rs727502843
|
|
NM_024301.5(FKRP):c.536C>A (p.Thr179Asn)
|
rs2122617585
|
|
NM_024301.5(FKRP):c.537C>T (p.Thr179=)
|
rs756705086
|
|
NM_024301.5(FKRP):c.538G>T (p.Ala180Ser)
|
|
|
NM_024301.5(FKRP):c.539C>A (p.Ala180Asp)
|
rs1555738521
|
|
NM_024301.5(FKRP):c.540_541delinsTA (p.Arg181Ser)
|
rs1568418289
|
|
NM_024301.5(FKRP):c.540_570dup (p.Cys191fs)
|
rs1311148380
|
|
NM_024301.5(FKRP):c.541C>T (p.Arg181Cys)
|
rs777245868
|
|
NM_024301.5(FKRP):c.542_567del (p.Arg181fs)
|
|
|
NM_024301.5(FKRP):c.544del (p.Tyr182fs)
|
|
|
NM_024301.5(FKRP):c.548G>A (p.Gly183Asp)
|
rs2054908222
|
|
NM_024301.5(FKRP):c.549C>T (p.Gly183=)
|
rs2122617954
|
|
NM_024301.5(FKRP):c.555C>A (p.Ala185=)
|
rs1057523657
|
|
NM_024301.5(FKRP):c.555C>G (p.Ala185=)
|
rs1057523657
|
|
NM_024301.5(FKRP):c.555C>T (p.Ala185=)
|
rs1057523657
|
|
NM_024301.5(FKRP):c.558C>A (p.Pro186=)
|
rs1266858563
|
|
NM_024301.5(FKRP):c.558C>G (p.Pro186=)
|
rs1266858563
|
|
NM_024301.5(FKRP):c.559_560delinsAA (p.Ala187Asn)
|
rs2122618398
|
|
NM_024301.5(FKRP):c.561C>G (p.Ala187=)
|
rs771770302
|
|
NM_024301.5(FKRP):c.561C>T (p.Ala187=)
|
rs771770302
|
|
NM_024301.5(FKRP):c.567C>G (p.Pro189=)
|
|
|
NM_024301.5(FKRP):c.568C>T (p.Arg190Cys)
|
rs1437770795
|
|
NM_024301.5(FKRP):c.578C>T (p.Ala193Val)
|
rs1815363870
|
|
NM_024301.5(FKRP):c.57G>A (p.Leu19=)
|
rs2122607618
|
|
NM_024301.5(FKRP):c.582G>C (p.Leu194=)
|
rs771223960
|
|
NM_024301.5(FKRP):c.582G>T (p.Leu194=)
|
|
|
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)
|
rs759875552
|
|
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)
|
rs759875552
|
|
NM_024301.5(FKRP):c.587G>T (p.Gly196Val)
|
|
|
NM_024301.5(FKRP):c.588A>G (p.Gly196=)
|
rs2122619043
|
|
NM_024301.5(FKRP):c.590A>T (p.Asp197Val)
|
|
|
NM_024301.5(FKRP):c.591T>C (p.Asp197=)
|
|
|
NM_024301.5(FKRP):c.592G>A (p.Ala198Thr)
|
rs1222197114
|
|
NM_024301.5(FKRP):c.594T>G (p.Ala198=)
|
rs753158217
|
|
NM_024301.5(FKRP):c.597G>A (p.Val199=)
|
|
|
NM_024301.5(FKRP):c.597G>T (p.Val199=)
|
rs1360004383
|
|
NM_024301.5(FKRP):c.5G>A (p.Arg2Gln)
|
|
|
NM_024301.5(FKRP):c.5G>T (p.Arg2Leu)
|
rs1308459613
|
|
NM_024301.5(FKRP):c.600G>A (p.Val200=)
|
rs2054910281
|
|
NM_024301.5(FKRP):c.600G>T (p.Val200=)
|
rs2054910281
|
|
NM_024301.5(FKRP):c.601C>T (p.Leu201Phe)
|
rs1568418509
|
|
NM_024301.5(FKRP):c.607C>T (p.Arg203Cys)
|
|
|
NM_024301.5(FKRP):c.608G>A (p.Arg203His)
|
rs1568418540
|
|
NM_024301.5(FKRP):c.609C>T (p.Arg203=)
|
|
|
NM_024301.5(FKRP):c.60C>A (p.Val20=)
|
|
|
NM_024301.5(FKRP):c.60C>G (p.Val20=)
|
rs1228553738
|
|
NM_024301.5(FKRP):c.60C>T (p.Val20=)
|
rs1228553738
|
|
NM_024301.5(FKRP):c.613C>T (p.Arg205Cys)
|
rs753297636
|
|
NM_024301.5(FKRP):c.615C>A (p.Arg205=)
|
|
|
NM_024301.5(FKRP):c.615C>G (p.Arg205=)
|
|
|
NM_024301.5(FKRP):c.616G>A (p.Asp206Asn)
|
rs1037585549
|
|
NM_024301.5(FKRP):c.618C>T (p.Asp206=)
|
|
|
NM_024301.5(FKRP):c.621C>G (p.Leu207=)
|
|
|
NM_024301.5(FKRP):c.624C>T (p.Phe208=)
|
|
|
NM_024301.5(FKRP):c.628C>T (p.Leu210Phe)
|
rs778472624
|
|
NM_024301.5(FKRP):c.632C>G (p.Ser211Trp)
|
|
|
NM_024301.5(FKRP):c.632del (p.Ser211fs)
|
|
|
NM_024301.5(FKRP):c.633G>C (p.Ser211=)
|
|
|
NM_024301.5(FKRP):c.638C>T (p.Pro213Leu)
|
|
|
NM_024301.5(FKRP):c.639C>G (p.Pro213=)
|
rs746859953
|
|
NM_024301.5(FKRP):c.639C>T (p.Pro213=)
|
|
|
NM_024301.5(FKRP):c.640C>G (p.Leu214Val)
|
rs768674420
|
|
NM_024301.5(FKRP):c.641T>G (p.Leu214Arg)
|
rs1380899496
|
|
NM_024301.5(FKRP):c.642G>C (p.Leu214=)
|
rs2122620240
|
|
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)
|
rs2054912295
|
|
NM_024301.5(FKRP):c.647G>A (p.Arg216Gln)
|
rs794727652
|
|
NM_024301.5(FKRP):c.648G>A (p.Arg216=)
|
rs781297006
|
|
NM_024301.5(FKRP):c.649C>A (p.Pro217Thr)
|
rs2122620422
|
|
NM_024301.5(FKRP):c.650dup (p.Val218fs)
|
rs2122620454
|
|
NM_024301.5(FKRP):c.651G>A (p.Pro217=)
|
rs1057522308
|
|
NM_024301.5(FKRP):c.651G>T (p.Pro217=)
|
rs1057522308
|
|
NM_024301.5(FKRP):c.651_652dup (p.Val218fs)
|
|
|
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser)
|
rs878855080
|
|
NM_024301.5(FKRP):c.656del (p.Gly219fs)
|
rs1555738651
|
|
NM_024301.5(FKRP):c.661dup (p.Ser221fs)
|
rs2122620867
|
|
NM_024301.5(FKRP):c.663C>A (p.Ser221Arg)
|
rs28937902
|
|
NM_024301.5(FKRP):c.666C>G (p.Leu222=)
|
|
|
NM_024301.5(FKRP):c.666C>T (p.Leu222=)
|
rs2122620960
|
|
NM_024301.5(FKRP):c.667T>G (p.Phe223Val)
|
rs2054913534
|
|
NM_024301.5(FKRP):c.673C>A (p.Gln225Lys)
|
rs1217634545
|
|
NM_024301.5(FKRP):c.674A>C (p.Gln225Pro)
|
|
|
NM_024301.5(FKRP):c.675del (p.Thr226fs)
|
rs886043706
|
|
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro)
|
rs775681117
|
|
NM_024301.5(FKRP):c.686del (p.Arg229fs)
|
rs1555738686
|
|
NM_024301.5(FKRP):c.687C>T (p.Arg229=)
|
|
|
NM_024301.5(FKRP):c.688G>A (p.Gly230Ser)
|
rs761054322
|
|
NM_024301.5(FKRP):c.688G>T (p.Gly230Cys)
|
|
|
NM_024301.5(FKRP):c.690C>T (p.Gly230=)
|
|
|
NM_024301.5(FKRP):c.692G>A (p.Trp231Ter)
|
|
|
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys)
|
rs2122621481
|
|
NM_024301.5(FKRP):c.696G>A (p.Ala232=)
|
|
|
NM_024301.5(FKRP):c.696G>T (p.Ala232=)
|
rs398124394
|
|
NM_024301.5(FKRP):c.699G>T (p.Val233=)
|
|
|
NM_024301.5(FKRP):c.702G>A (p.Gln234=)
|
|
|
NM_024301.5(FKRP):c.705G>C (p.Leu235=)
|
|
|
NM_024301.5(FKRP):c.706C>T (p.Leu236=)
|
|
|
NM_024301.5(FKRP):c.707T>C (p.Leu236Pro)
|
|
|
NM_024301.5(FKRP):c.708G>A (p.Leu236=)
|
rs886038683
|
|
NM_024301.5(FKRP):c.712_713del (p.Leu238fs)
|
|
|
NM_024301.5(FKRP):c.714G>A (p.Leu238=)
|
|
|
NM_024301.5(FKRP):c.717C>G (p.Thr239=)
|
|
|
NM_024301.5(FKRP):c.718T>C (p.Phe240Leu)
|
rs2122621908
|
|
NM_024301.5(FKRP):c.720C>T (p.Phe240=)
|
rs2122621942
|
|
NM_024301.5(FKRP):c.722_791del (p.Ala241fs)
|
|
|
NM_024301.5(FKRP):c.723C>G (p.Ala241=)
|
|
|
NM_024301.5(FKRP):c.729G>A (p.Ala243=)
|
rs794727651
|
|
NM_024301.5(FKRP):c.731G>T (p.Arg244Leu)
|
rs764641619
|
|
NM_024301.5(FKRP):c.736C>A (p.Pro246Thr)
|
rs1443171664
|
|
NM_024301.5(FKRP):c.736C>T (p.Pro246Ser)
|
|
|
NM_024301.5(FKRP):c.739C>A (p.Pro247Thr)
|
rs1000823800
|
|
NM_024301.5(FKRP):c.740C>G (p.Pro247Arg)
|
rs528000488
|
|
NM_024301.5(FKRP):c.741G>T (p.Pro247=)
|
|
|
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr)
|
rs757955092
|
|
NM_024301.5(FKRP):c.748A>G (p.Thr250Ala)
|
|
|
NM_024301.5(FKRP):c.750G>A (p.Thr250=)
|
rs1390038437
|
|
NM_024301.5(FKRP):c.750G>T (p.Thr250=)
|
rs1390038437
|
|
NM_024301.5(FKRP):c.755A>T (p.His252Leu)
|
rs2054916702
|
|
NM_024301.5(FKRP):c.756C>T (p.His252=)
|
|
|
NM_024301.5(FKRP):c.759G>T (p.Ala253=)
|
rs2122622960
|
|
NM_024301.5(FKRP):c.75G>A (p.Ser25=)
|
rs1555738032
|
|
NM_024301.5(FKRP):c.75G>C (p.Ser25=)
|
|
|
NM_024301.5(FKRP):c.75G>T (p.Ser25=)
|
rs1555738032
|
|
NM_024301.5(FKRP):c.763T>A (p.Trp255Arg)
|
rs2054916842
|
|
NM_024301.5(FKRP):c.771T>A (p.Ala257=)
|
|
|
NM_024301.5(FKRP):c.771T>C (p.Ala257=)
|
|
|
NM_024301.5(FKRP):c.771T>G (p.Ala257=)
|
|
|
NM_024301.5(FKRP):c.774G>A (p.Glu258=)
|
|
|
NM_024301.5(FKRP):c.775C>T (p.Arg259Cys)
|
rs1333568893
|
|
NM_024301.5(FKRP):c.777C>G (p.Arg259=)
|
|
|
NM_024301.5(FKRP):c.777C>T (p.Arg259=)
|
rs766086486
|
|
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)
|
rs1555738753
|
|
NM_024301.5(FKRP):c.779A>C (p.Glu260Ala)
|
rs1394263062
|
|
NM_024301.5(FKRP):c.779_785del (p.Glu260fs)
|
rs2122623346
|
|
NM_024301.5(FKRP):c.780G>C (p.Glu260Asp)
|
rs1414659732
|
|
NM_024301.5(FKRP):c.781G>A (p.Gly261Arg)
|
|
|
NM_024301.5(FKRP):c.781G>C (p.Gly261Arg)
|
rs561169991
|
|
NM_024301.5(FKRP):c.786C>T (p.Arg262=)
|
|
|
NM_024301.5(FKRP):c.788C>T (p.Ala263Val)
|
rs2122623716
|
|
NM_024301.5(FKRP):c.789T>C (p.Ala263=)
|
|
|
NM_024301.5(FKRP):c.790C>G (p.Arg264Gly)
|
|
|
NM_024301.5(FKRP):c.794G>A (p.Arg265Gln)
|
rs1320991574
|
|
NM_024301.5(FKRP):c.795G>A (p.Arg265=)
|
|
|
NM_024301.5(FKRP):c.795_811del (p.Ala267fs)
|
|
|
NM_024301.5(FKRP):c.796del (p.Ala266fs)
|
rs1555738764
|
|
NM_024301.5(FKRP):c.797dup (p.Ala267fs)
|
|
|
NM_024301.5(FKRP):c.79C>T (p.Leu27=)
|
rs2122608181
|
|
NM_024301.5(FKRP):c.805C>T (p.Leu269Phe)
|
rs2054918807
|
|
NM_024301.5(FKRP):c.807C>G (p.Leu269=)
|
|
|
NM_024301.5(FKRP):c.807C>T (p.Leu269=)
|
|
|
NM_024301.5(FKRP):c.810C>A (p.Arg270=)
|
rs754829416
|
|
NM_024301.5(FKRP):c.810C>T (p.Arg270=)
|
|
|
NM_024301.5(FKRP):c.811G>A (p.Ala271Thr)
|
rs1331506516
|
|
NM_024301.5(FKRP):c.813G>C (p.Ala271=)
|
|
|
NM_024301.5(FKRP):c.813G>T (p.Ala271=)
|
rs781205564
|
|
NM_024301.5(FKRP):c.813_814dup (p.Leu272fs)
|
|
|
NM_024301.5(FKRP):c.819C>T (p.Gly273=)
|
rs2122624397
|
|
NM_024301.5(FKRP):c.81_82delinsTT (p.Gln28Ter)
|
|
|
NM_024301.5(FKRP):c.820A>T (p.Ile274Phe)
|
rs1060502107
|
|
NM_024301.5(FKRP):c.826C>T (p.Leu276=)
|
rs28937900
|
|
NM_024301.5(FKRP):c.828del (p.Leu276_Val277insTer)
|
|
|
NM_024301.5(FKRP):c.832A>G (p.Ser278Gly)
|
|
|
NM_024301.5(FKRP):c.835T>C (p.Trp279Arg)
|
rs2054919937
|
|
NM_024301.5(FKRP):c.835dup (p.Trp279fs)
|
|
|
NM_024301.5(FKRP):c.836G>C (p.Trp279Ser)
|
rs1555738797
|
|
NM_024301.5(FKRP):c.838G>A (p.Glu280Lys)
|
rs2054920081
|
|
NM_024301.5(FKRP):c.83A>G (p.Gln28Arg)
|
rs756205019
|
|
NM_024301.5(FKRP):c.843C>T (p.Gly281=)
|
|
|
NM_024301.5(FKRP):c.844G>A (p.Gly282Arg)
|
rs2054920195
|
|
NM_024301.5(FKRP):c.846G>C (p.Gly282=)
|
|
|
NM_024301.5(FKRP):c.847C>A (p.Arg283=)
|
rs1325525979
|
|
NM_024301.5(FKRP):c.849G>A (p.Arg283=)
|
rs2054920441
|
|
NM_024301.5(FKRP):c.857G>A (p.Trp286Ter)
|
|
|
NM_024301.5(FKRP):c.859T>C (p.Phe287Leu)
|
rs2054920778
|
|
NM_024301.5(FKRP):c.863G>T (p.Gly288Val)
|
|
|
NM_024301.5(FKRP):c.867C>T (p.Cys289=)
|
|
|
NM_024301.5(FKRP):c.86A>G (p.His29Arg)
|
|
|
NM_024301.5(FKRP):c.877A>G (p.Thr293Ala)
|
rs2122625896
|
|
NM_024301.5(FKRP):c.879C>A (p.Thr293=)
|
|
|
NM_024301.5(FKRP):c.879C>T (p.Thr293=)
|
|
|
NM_024301.5(FKRP):c.881C>A (p.Thr294Lys)
|
rs1333089122
|
|
NM_024301.5(FKRP):c.882G>A (p.Thr294=)
|
|
|
NM_024301.5(FKRP):c.882G>C (p.Thr294=)
|
rs2122625984
|
|
NM_024301.5(FKRP):c.882G>T (p.Thr294=)
|
|
|
NM_024301.5(FKRP):c.883C>G (p.Arg295Gly)
|
rs2054921636
|
|
NM_024301.5(FKRP):c.885C>G (p.Arg295=)
|
|
|
NM_024301.5(FKRP):c.888C>T (p.Cys296=)
|
|
|
NM_024301.5(FKRP):c.88C>T (p.Gln30Ter)
|
|
|
NM_024301.5(FKRP):c.890T>G (p.Phe297Cys)
|
rs2122626168
|
|
NM_024301.5(FKRP):c.891C>G (p.Phe297Leu)
|
rs1473348553
|
|
NM_024301.5(FKRP):c.891C>T (p.Phe297=)
|
|
|
NM_024301.5(FKRP):c.892G>A (p.Gly298Arg)
|
rs886043401
|
|
NM_024301.5(FKRP):c.892G>T (p.Gly298Ter)
|
rs886043401
|
|
NM_024301.5(FKRP):c.897dup (p.Val300fs)
|
|
|
NM_024301.5(FKRP):c.900G>T (p.Val300=)
|
rs2054922276
|
|
NM_024301.5(FKRP):c.906C>T (p.Gly302=)
|
rs2122626586
|
|
NM_024301.5(FKRP):c.907G>A (p.Asp303Asn)
|
rs765811792
|
|
NM_024301.5(FKRP):c.909C>T (p.Asp303=)
|
rs2122626640
|
|
NM_024301.5(FKRP):c.912G>A (p.Thr304=)
|
rs1301337774
|
|
NM_024301.5(FKRP):c.913C>A (p.Pro305Thr)
|
rs2122626729
|
|
NM_024301.5(FKRP):c.915C>A (p.Pro305=)
|
rs1372543621
|
|
NM_024301.5(FKRP):c.915C>T (p.Pro305=)
|
rs1372543621
|
|
NM_024301.5(FKRP):c.918C>G (p.Ala306=)
|
|
|
NM_024301.5(FKRP):c.919del (p.Tyr307fs)
|
rs2122626858
|
|
NM_024301.5(FKRP):c.91C>T (p.Pro31Ser)
|
|
|
NM_024301.5(FKRP):c.928G>A (p.Glu310Lys)
|
|
|
NM_024301.5(FKRP):c.928G>C (p.Glu310Gln)
|
rs765885747
|
|
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)
|
rs765885747
|
|
NM_024301.5(FKRP):c.930G>A (p.Glu310=)
|
|
|
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)
|
rs911700598
|
|
NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)
|
|
|
NM_024301.5(FKRP):c.935G>A (p.Arg312His)
|
|
|
NM_024301.5(FKRP):c.935G>C (p.Arg312Pro)
|
|
|
NM_024301.5(FKRP):c.935G>T (p.Arg312Leu)
|
rs868138875
|
|
NM_024301.5(FKRP):c.936C>G (p.Arg312=)
|
|
|
NM_024301.5(FKRP):c.938G>A (p.Trp313Ter)
|
|
|
NM_024301.5(FKRP):c.940A>G (p.Thr314Ala)
|
|
|
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)
|
rs398124395
|
|
NM_024301.5(FKRP):c.942G>C (p.Thr314=)
|
|
|
NM_024301.5(FKRP):c.943C>G (p.Pro315Ala)
|
rs1161657651
|
|
NM_024301.5(FKRP):c.945C>G (p.Pro315=)
|
rs2122627518
|
|
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)
|
rs28937901
|
|
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala)
|
rs28937901
|
|
NM_024301.5(FKRP):c.947_948del (p.Pro316fs)
|
|
|
NM_024301.5(FKRP):c.947_948insA (p.Cys317fs)
|
rs2122627673
|
|
NM_024301.5(FKRP):c.948C>A (p.Pro316=)
|
rs945877846
|
|
NM_024301.5(FKRP):c.948C>T (p.Pro316=)
|
rs945877846
|
|
NM_024301.5(FKRP):c.948del (p.Cys317fs)
|
rs748798133
|
|
NM_024301.5(FKRP):c.949del (p.Cys317fs)
|
|
|
NM_024301.5(FKRP):c.950G>A (p.Cys317Tyr)
|
|
|
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr)
|
rs104894684
|
|
NM_024301.5(FKRP):c.955C>T (p.Leu319=)
|
rs777792222
|
|
NM_024301.5(FKRP):c.957G>C (p.Leu319=)
|
|
|
NM_024301.5(FKRP):c.957G>T (p.Leu319=)
|
|
|
NM_024301.5(FKRP):c.960C>G (p.Arg320=)
|
|
|
NM_024301.5(FKRP):c.960C>T (p.Arg320=)
|
rs2054924886
|
|
NM_024301.5(FKRP):c.961G>A (p.Ala321Thr)
|
|
|
NM_024301.5(FKRP):c.963G>A (p.Ala321=)
|
|
|
NM_024301.5(FKRP):c.963G>C (p.Ala321=)
|
rs2054925068
|
|
NM_024301.5(FKRP):c.963_964del (p.Leu322fs)
|
rs1555738883
|
|
NM_024301.5(FKRP):c.964C>G (p.Leu322Val)
|
rs794727653
|
|
NM_024301.5(FKRP):c.969C>A (p.Arg323=)
|
rs532054402
|
|
NM_024301.5(FKRP):c.969C>G (p.Arg323=)
|
|
|
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)
|
rs886044183
|
|
NM_024301.5(FKRP):c.975C>G (p.Thr325=)
|
|
|
NM_024301.5(FKRP):c.976G>T (p.Ala326Ser)
|
rs1201873802
|
|
NM_024301.5(FKRP):c.978C>A (p.Ala326=)
|
|
|
NM_024301.5(FKRP):c.978C>T (p.Ala326=)
|
|
|
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly)
|
rs867877678
|
|
NM_024301.5(FKRP):c.979C>T (p.Arg327Cys)
|
|
|
NM_024301.5(FKRP):c.979dup (p.Arg327fs)
|
rs2122628653
|
|
NM_024301.5(FKRP):c.97A>G (p.Asn33Asp)
|
|
|
NM_024301.5(FKRP):c.981C>T (p.Arg327=)
|
rs2122628775
|
|
NM_024301.5(FKRP):c.983A>G (p.Tyr328Cys)
|
|
|
NM_024301.5(FKRP):c.984T>A (p.Tyr328Ter)
|
|
|
NM_024301.5(FKRP):c.985G>A (p.Val329Met)
|
|
|
NM_024301.5(FKRP):c.987G>A (p.Val329=)
|
|
|
NM_024301.5(FKRP):c.987G>T (p.Val329=)
|
rs2122628920
|
|
NM_024301.5(FKRP):c.994G>A (p.Val332Met)
|
rs768917965
|
|
NM_024301.5(FKRP):c.996G>A (p.Val332=)
|
|
|
NM_024301.5(FKRP):c.998_1015del (p.Leu333_Val338del)
|
rs2122628972
|
|
NM_024301.5(FKRP):c.9C>G (p.Leu3=)
|
rs756295058
|
|
NM_032237.5(POMK):c.1011A>G (p.Thr337=)
|
|
|
NM_032237.5(POMK):c.1044G>T (p.Glu348Asp)
|
rs1426912299
|
|
NM_032237.5(POMK):c.110G>C (p.Cys37Ser)
|
rs149845778
|
|
NM_032237.5(POMK):c.121T>G (p.Phe41Val)
|
rs1811490118
|
|
NM_032237.5(POMK):c.137G>A (p.Arg46Gln)
|
|
|
NM_032237.5(POMK):c.150G>C (p.Val50=)
|
rs2130601396
|
|
NM_032237.5(POMK):c.152del (p.Asp51fs)
|
rs2130601407
|
|
NM_032237.5(POMK):c.154C>T (p.Pro52Ser)
|
|
|
NM_032237.5(POMK):c.174T>G (p.Gly58=)
|
|
|
NM_032237.5(POMK):c.181A>G (p.Arg61Gly)
|
rs201953159
|
|
NM_032237.5(POMK):c.183G>C (p.Arg61Ser)
|
rs778749095
|
|
NM_032237.5(POMK):c.197A>G (p.Lys66Arg)
|
|
|
NM_032237.5(POMK):c.208C>T (p.Pro70Ser)
|
|
|
NM_032237.5(POMK):c.215T>C (p.Leu72Pro)
|
rs1811493094
|
|
NM_032237.5(POMK):c.222C>G (p.Cys74Trp)
|
|
|
NM_032237.5(POMK):c.223G>A (p.Glu75Lys)
|
|
|
NM_032237.5(POMK):c.238_239del (p.Glu80fs)
|
rs1454006905
|
|
NM_032237.5(POMK):c.247C>T (p.Gln83Ter)
|
|
|
NM_032237.5(POMK):c.24C>T (p.Ser8=)
|
|
|
NM_032237.5(POMK):c.257G>A (p.Arg86His)
|
rs201095843
|
|
NM_032237.5(POMK):c.259G>C (p.Val87Leu)
|
|
|
NM_032237.5(POMK):c.265G>A (p.Glu89Lys)
|
rs925752217
|
|
NM_032237.5(POMK):c.268G>A (p.Gly90Arg)
|
rs2130601657
|
|
NM_032237.5(POMK):c.276A>G (p.Val92=)
|
|
|
NM_032237.5(POMK):c.280A>T (p.Arg94Ter)
|
|
|
NM_032237.5(POMK):c.282+10G>A
|
|
|
NM_032237.5(POMK):c.282+12T>A
|
rs1478878602
|
|
NM_032237.5(POMK):c.282+1G>C
|
rs1206884841
|
|
NM_032237.5(POMK):c.283-19C>G
|
rs748829841
|
|
NM_032237.5(POMK):c.283-6T>C
|
|
|
NM_032237.5(POMK):c.283-9_283-8del
|
rs2130626184
|
|
NM_032237.5(POMK):c.288del (p.Leu97fs)
|
rs606231306
|
|
NM_032237.5(POMK):c.28A>G (p.Arg10Gly)
|
rs1811485587
|
|
NM_032237.5(POMK):c.311A>C (p.Lys104Thr)
|
|
|
NM_032237.5(POMK):c.311A>G (p.Lys104Arg)
|
|
|
NM_032237.5(POMK):c.312A>G (p.Lys104=)
|
|
|
NM_032237.5(POMK):c.315T>G (p.Val105=)
|
|
|
NM_032237.5(POMK):c.319C>T (p.Leu107Phe)
|
rs867790285
|
|
NM_032237.5(POMK):c.325C>T (p.Gln109Ter)
|
rs587777423
|
|
NM_032237.5(POMK):c.333C>T (p.Thr111=)
|
|
|
NM_032237.5(POMK):c.33C>A (p.Gly11=)
|
rs967238740
|
|
NM_032237.5(POMK):c.347A>G (p.Lys116Arg)
|
rs2130626356
|
|
NM_032237.5(POMK):c.352G>T (p.Asp118Tyr)
|
|
|
NM_032237.5(POMK):c.360C>T (p.Leu120=)
|
rs144790751
|
|
NM_032237.5(POMK):c.36C>T (p.Leu12=)
|
|
|
NM_032237.5(POMK):c.37G>A (p.Ala13Thr)
|
|
|
NM_032237.5(POMK):c.383C>T (p.Ser128Phe)
|
rs1482823387
|
|
NM_032237.5(POMK):c.385C>T (p.Leu129Phe)
|
|
|
NM_032237.5(POMK):c.386_387del (p.Leu129fs)
|
rs2130626422
|
|
NM_032237.5(POMK):c.39C>G (p.Ala13=)
|
rs762781994
|
|
NM_032237.5(POMK):c.39C>T (p.Ala13=)
|
|
|
NM_032237.5(POMK):c.401T>A (p.Val134Asp)
|
|
|
NM_032237.5(POMK):c.404T>A (p.Val135Asp)
|
rs2130626484
|
|
NM_032237.5(POMK):c.407C>A (p.Thr136Lys)
|
rs138216719
|
|
NM_032237.5(POMK):c.408G>T (p.Thr136=)
|
|
|
NM_032237.5(POMK):c.419A>G (p.Tyr140Cys)
|
|
|
NM_032237.5(POMK):c.422G>C (p.Cys141Ser)
|
|
|
NM_032237.5(POMK):c.436A>T (p.Thr146Ser)
|
rs1811932910
|
|
NM_032237.5(POMK):c.437C>G (p.Thr146Ser)
|
|
|
NM_032237.5(POMK):c.43C>G (p.Arg15Gly)
|
rs774013796
|
|
NM_032237.5(POMK):c.43dup (p.Arg15fs)
|
rs749980792
|
|
NM_032237.5(POMK):c.44G>T (p.Arg15Leu)
|
|
|
NM_032237.5(POMK):c.450A>G (p.Glu150=)
|
rs1811933320
|
|
NM_032237.5(POMK):c.452_455dup (p.His152fs)
|
rs2130626601
|
|
NM_032237.5(POMK):c.454C>A (p.His152Asn)
|
|
|
NM_032237.5(POMK):c.456C>A (p.His152Gln)
|
rs1363145685
|
|
NM_032237.5(POMK):c.459del (p.Pro153_Leu154insTer)
|
|
|
NM_032237.5(POMK):c.464G>C (p.Gly155Ala)
|
|
|
NM_032237.5(POMK):c.473G>A (p.Ser158Asn)
|
|
|
NM_032237.5(POMK):c.47A>G (p.Glu16Gly)
|
rs1811486808
|
|
NM_032237.5(POMK):c.481G>A (p.Glu161Lys)
|
rs2130626660
|
|
NM_032237.5(POMK):c.489A>C (p.Thr163=)
|
|
|
NM_032237.5(POMK):c.502A>G (p.Lys168Glu)
|
|
|
NM_032237.5(POMK):c.504G>A (p.Lys168=)
|
|
|
NM_032237.5(POMK):c.505T>C (p.Tyr169His)
|
rs2130626707
|
|
NM_032237.5(POMK):c.520A>G (p.Thr174Ala)
|
rs753604559
|
|
NM_032237.5(POMK):c.521C>T (p.Thr174Met)
|
|
|
NM_032237.5(POMK):c.522G>A (p.Thr174=)
|
|
|
NM_032237.5(POMK):c.53C>T (p.Pro18Leu)
|
|
|
NM_032237.5(POMK):c.541C>T (p.Leu181=)
|
rs563599638
|
|
NM_032237.5(POMK):c.545C>T (p.Ala182Val)
|
rs1811935914
|
|
NM_032237.5(POMK):c.551A>G (p.Asp184Gly)
|
|
|
NM_032237.5(POMK):c.553T>C (p.Tyr185His)
|
|
|
NM_032237.5(POMK):c.555T>C (p.Tyr185=)
|
|
|
NM_032237.5(POMK):c.556G>T (p.Val186Phe)
|
rs1241051300
|
|
NM_032237.5(POMK):c.576G>A (p.Leu192=)
|
rs1227666493
|
|
NM_032237.5(POMK):c.577C>G (p.His193Asp)
|
|
|
NM_032237.5(POMK):c.598C>T (p.Arg200Trp)
|
|
|
NM_032237.5(POMK):c.599G>A (p.Arg200Gln)
|
rs146214675
|
|
NM_032237.5(POMK):c.599G>T (p.Arg200Leu)
|
rs146214675
|
|
NM_032237.5(POMK):c.622C>T (p.Leu208=)
|
|
|
NM_032237.5(POMK):c.634C>G (p.Leu212Val)
|
|
|
NM_032237.5(POMK):c.641A>T (p.Gln214Leu)
|
rs1250212576
|
|
NM_032237.5(POMK):c.642G>A (p.Gln214=)
|
|
|
NM_032237.5(POMK):c.645T>G (p.Tyr215Ter)
|
|
|
NM_032237.5(POMK):c.657C>A (p.Ser219Arg)
|
rs1811940888
|
|
NM_032237.5(POMK):c.661T>C (p.Phe221Leu)
|
rs1811941055
|
|
NM_032237.5(POMK):c.719T>C (p.Met240Thr)
|
rs1811942751
|
|
NM_032237.5(POMK):c.724dup (p.Val242fs)
|
|
|
NM_032237.5(POMK):c.737A>G (p.His246Arg)
|
|
|
NM_032237.5(POMK):c.739A>G (p.Arg247Gly)
|
|
|
NM_032237.5(POMK):c.745C>A (p.Leu249Met)
|
rs2130627298
|
|
NM_032237.5(POMK):c.745C>T (p.Leu249=)
|
|
|
NM_032237.5(POMK):c.74T>C (p.Leu25Pro)
|
rs1811488354
|
|
NM_032237.5(POMK):c.754dup (p.Asp252fs)
|
|
|
NM_032237.5(POMK):c.76A>C (p.Ile26Leu)
|
rs1586671643
|
|
NM_032237.5(POMK):c.775C>T (p.Leu259=)
|
rs947882915
|
|
NM_032237.5(POMK):c.803del (p.Phe268fs)
|
|
|
NM_032237.5(POMK):c.804C>T (p.Phe268=)
|
|
|
NM_032237.5(POMK):c.808G>C (p.Asp270His)
|
|
|
NM_032237.5(POMK):c.80T>C (p.Met27Thr)
|
rs2130601203
|
|
NM_032237.5(POMK):c.817A>T (p.Met273Leu)
|
rs1344780295
|
|
NM_032237.5(POMK):c.822C>G (p.Pro274=)
|
rs1331879356
|
|
NM_032237.5(POMK):c.822C>T (p.Pro274=)
|
|
|
NM_032237.5(POMK):c.825A>T (p.Ser275=)
|
|
|
NM_032237.5(POMK):c.827A>G (p.Tyr276Cys)
|
rs1811945936
|
|
NM_032237.5(POMK):c.847del (p.Trp283fs)
|
|
|
NM_032237.5(POMK):c.859G>A (p.Asp287Asn)
|
|
|
NM_032237.5(POMK):c.859G>C (p.Asp287His)
|
rs1811947241
|
|
NM_032237.5(POMK):c.869G>C (p.Ser290Thr)
|
|
|
NM_032237.5(POMK):c.874C>T (p.Leu292Phe)
|
rs1811947580
|
|
NM_032237.5(POMK):c.883C>T (p.His295Tyr)
|
rs1554524387
|
|
NM_032237.5(POMK):c.914A>G (p.His305Arg)
|
|
|
NM_032237.5(POMK):c.938G>A (p.Cys313Tyr)
|
|
|
NM_032237.5(POMK):c.94_98del (p.Thr32fs)
|
|
|
NM_032237.5(POMK):c.965C>T (p.Pro322Leu)
|
rs747083630
|
|
NM_032237.5(POMK):c.96T>G (p.Thr32=)
|
|
|
NM_032237.5(POMK):c.970G>T (p.Ala324Ser)
|
|
|
NM_032237.5(POMK):c.979G>C (p.Val327Leu)
|
rs546931054
|
|
NM_032806.6(POMGNT2):c.-43C>T
|
rs2936818
|
|
NM_032806.6(POMGNT2):c.1000_1003del (p.Leu334fs)
|
rs2089839448
|
|
NM_032806.6(POMGNT2):c.1007G>A (p.Ser336Asn)
|
rs377756333
|
|
NM_032806.6(POMGNT2):c.1012G>A (p.Ala338Thr)
|
rs2125700054
|
|
NM_032806.6(POMGNT2):c.1038G>T (p.Gly346=)
|
|
|
NM_032806.6(POMGNT2):c.1042C>T (p.Gln348Ter)
|
rs1021357430
|
|
NM_032806.6(POMGNT2):c.1059C>G (p.Leu353=)
|
rs2125700007
|
|
NM_032806.6(POMGNT2):c.1062C>A (p.Phe354Leu)
|
rs2089838642
|
|
NM_032806.6(POMGNT2):c.1072G>A (p.Gly358Arg)
|
|
|
NM_032806.6(POMGNT2):c.1085T>C (p.Val362Ala)
|
|
|
NM_032806.6(POMGNT2):c.109G>A (p.Ala37Thr)
|
rs1335685375
|
|
NM_032806.6(POMGNT2):c.1108A>G (p.Asn370Asp)
|
|
|
NM_032806.6(POMGNT2):c.1109A>G (p.Asn370Ser)
|
|
|
NM_032806.6(POMGNT2):c.1130A>G (p.Tyr377Cys)
|
|
|
NM_032806.6(POMGNT2):c.1136C>T (p.Thr379Met)
|
rs918586203
|
|
NM_032806.6(POMGNT2):c.1137G>T (p.Thr379=)
|
rs377724350
|
|
NM_032806.6(POMGNT2):c.1139T>C (p.Leu380Pro)
|
rs750946944
|
|
NM_032806.6(POMGNT2):c.1149G>A (p.Leu383=)
|
|
|
NM_032806.6(POMGNT2):c.1156A>T (p.Met386Leu)
|
|
|
NM_032806.6(POMGNT2):c.1170T>G (p.Tyr390Ter)
|
|
|
NM_032806.6(POMGNT2):c.1173A>G (p.Val391=)
|
rs1183137342
|
|
NM_032806.6(POMGNT2):c.1180C>G (p.Arg394Gly)
|
rs146126985
|
|
NM_032806.6(POMGNT2):c.1180C>T (p.Arg394Trp)
|
rs146126985
|
|
NM_032806.6(POMGNT2):c.118C>T (p.Arg40Ter)
|
rs2089853535
|
|
NM_032806.6(POMGNT2):c.11C>T (p.Ser4Leu)
|
|
|
NM_032806.6(POMGNT2):c.1214C>G (p.Pro405Arg)
|
|
|
NM_032806.6(POMGNT2):c.1220G>A (p.Arg407Gln)
|
|
|
NM_032806.6(POMGNT2):c.1221G>T (p.Arg407=)
|
rs2125699837
|
|
NM_032806.6(POMGNT2):c.1238G>C (p.Gly413Ala)
|
rs1368751789
|
|
NM_032806.6(POMGNT2):c.1239C>T (p.Gly413=)
|
|
|
NM_032806.6(POMGNT2):c.1244C>T (p.Thr415Ile)
|
|
|
NM_032806.6(POMGNT2):c.1249C>A (p.Leu417Met)
|
rs2089835416
|
|
NM_032806.6(POMGNT2):c.1258del (p.Ala420fs)
|
rs1575461722
|
|
NM_032806.6(POMGNT2):c.1271G>T (p.Arg424Leu)
|
rs775667995
|
|
NM_032806.6(POMGNT2):c.1277T>G (p.Leu426Arg)
|
|
|
NM_032806.6(POMGNT2):c.1291G>A (p.Val431Ile)
|
|
|
NM_032806.6(POMGNT2):c.1312C>G (p.Arg438Gly)
|
rs758077352
|
|
NM_032806.6(POMGNT2):c.1312C>T (p.Arg438Trp)
|
rs758077352
|
|
NM_032806.6(POMGNT2):c.1313G>T (p.Arg438Leu)
|
rs371405205
|
|
NM_032806.6(POMGNT2):c.1326G>A (p.Trp442Ter)
|
rs2125699699
|
|
NM_032806.6(POMGNT2):c.1333C>A (p.Arg445=)
|
rs387907299
|
|
NM_032806.6(POMGNT2):c.1333C>T (p.Arg445Ter)
|
rs387907299
|
|
NM_032806.6(POMGNT2):c.1344G>A (p.Gln448=)
|
rs767879383
|
|
NM_032806.6(POMGNT2):c.1350C>A (p.Thr450=)
|
rs766467191
|
|
NM_032806.6(POMGNT2):c.1353G>C (p.Lys451Asn)
|
|
|
NM_032806.6(POMGNT2):c.1365G>T (p.Pro455=)
|
|
|
NM_032806.6(POMGNT2):c.1368C>T (p.Ser456=)
|
|
|
NM_032806.6(POMGNT2):c.1380C>A (p.Thr460=)
|
rs375414490
|
|
NM_032806.6(POMGNT2):c.1385G>A (p.Arg462Gln)
|
rs34083889
|
|
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu)
|
rs34083889
|
|
NM_032806.6(POMGNT2):c.1403G>A (p.Arg468Gln)
|
|
|
NM_032806.6(POMGNT2):c.1404G>A (p.Arg468=)
|
|
|
NM_032806.6(POMGNT2):c.1409G>A (p.Gly470Glu)
|
|
|
NM_032806.6(POMGNT2):c.1419G>A (p.Lys473=)
|
|
|
NM_032806.6(POMGNT2):c.1446A>C (p.Pro482=)
|
|
|
NM_032806.6(POMGNT2):c.1459G>A (p.Glu487Lys)
|
rs2089832147
|
|
NM_032806.6(POMGNT2):c.1479A>G (p.Ser493=)
|
|
|
NM_032806.6(POMGNT2):c.1489G>A (p.Ala497Thr)
|
|
|
NM_032806.6(POMGNT2):c.14C>A (p.Ala5Glu)
|
|
|
NM_032806.6(POMGNT2):c.1504C>G (p.Leu502Val)
|
rs1369256836
|
|
NM_032806.6(POMGNT2):c.1510del (p.Val504fs)
|
|
|
NM_032806.6(POMGNT2):c.152T>C (p.Ile51Thr)
|
rs1338816845
|
|
NM_032806.6(POMGNT2):c.1553G>A (p.Arg518Lys)
|
rs2089830692
|
|
NM_032806.6(POMGNT2):c.1555G>T (p.Glu519Ter)
|
rs747691921
|
|
NM_032806.6(POMGNT2):c.1568A>T (p.Glu523Val)
|
rs1207150912
|
|
NM_032806.6(POMGNT2):c.1570G>A (p.Val524Met)
|
|
|
NM_032806.6(POMGNT2):c.1572G>A (p.Val524=)
|
|
|
NM_032806.6(POMGNT2):c.1587G>A (p.Gln529=)
|
|
|
NM_032806.6(POMGNT2):c.1591del (p.Glu531fs)
|
rs2125699348
|
|
NM_032806.6(POMGNT2):c.1621C>T (p.Leu541=)
|
rs753930965
|
|
NM_032806.6(POMGNT2):c.162G>T (p.Pro54=)
|
|
|
NM_032806.6(POMGNT2):c.1630C>G (p.His544Asp)
|
rs2089829509
|
|
NM_032806.6(POMGNT2):c.1643A>G (p.Glu548Gly)
|
|
|
NM_032806.6(POMGNT2):c.1653G>A (p.Lys551=)
|
rs2125699292
|
|
NM_032806.6(POMGNT2):c.1682G>A (p.Arg561His)
|
|
|
NM_032806.6(POMGNT2):c.1687A>G (p.Ile563Val)
|
rs1316924045
|
|
NM_032806.6(POMGNT2):c.1697A>G (p.Lys566Arg)
|
|
|
NM_032806.6(POMGNT2):c.1701CCT[1] (p.Leu569del)
|
rs2089828622
|
|
NM_032806.6(POMGNT2):c.1705C>T (p.Leu569=)
|
|
|
NM_032806.6(POMGNT2):c.170T>C (p.Leu57Pro)
|
|
|
NM_032806.6(POMGNT2):c.1716T>G (p.Phe572Leu)
|
rs1575461128
|
|
NM_032806.6(POMGNT2):c.1716_1717dup (p.Ala573fs)
|
rs2089828424
|
|
NM_032806.6(POMGNT2):c.1729G>T (p.Val577Leu)
|
|
|
NM_032806.6(POMGNT2):c.174G>C (p.Gln58His)
|
rs2089852658
|
|
NM_032806.6(POMGNT2):c.177C>T (p.Ile59=)
|
|
|
NM_032806.6(POMGNT2):c.196C>G (p.His66Asp)
|
|
|
NM_032806.6(POMGNT2):c.200T>C (p.Met67Thr)
|
rs2089852276
|
|
NM_032806.6(POMGNT2):c.209C>T (p.Thr70Met)
|
|
|
NM_032806.6(POMGNT2):c.218C>T (p.Thr73Met)
|
|
|
NM_032806.6(POMGNT2):c.255C>G (p.Cys85Trp)
|
|
|
NM_032806.6(POMGNT2):c.260C>T (p.Ser87Phe)
|
rs2125701000
|
|
NM_032806.6(POMGNT2):c.261C>T (p.Ser87=)
|
rs1575463050
|
|
NM_032806.6(POMGNT2):c.263A>G (p.Asn88Ser)
|
|
|
NM_032806.6(POMGNT2):c.270T>C (p.Ala90=)
|
|
|
NM_032806.6(POMGNT2):c.283TTC[1] (p.Phe96del)
|
rs767570675
|
|
NM_032806.6(POMGNT2):c.286T>C (p.Phe96Leu)
|
|
|
NM_032806.6(POMGNT2):c.28C>T (p.Leu10Phe)
|
|
|
NM_032806.6(POMGNT2):c.307A>G (p.Met103Val)
|
rs2125700930
|
|
NM_032806.6(POMGNT2):c.321G>C (p.Leu107=)
|
rs1575462988
|
|
NM_032806.6(POMGNT2):c.33G>C (p.Leu11=)
|
|
|
NM_032806.6(POMGNT2):c.341C>G (p.Pro114Arg)
|
|
|
NM_032806.6(POMGNT2):c.352G>A (p.Asp118Asn)
|
rs2089849978
|
|
NM_032806.6(POMGNT2):c.363C>G (p.Thr121=)
|
rs200345083
|
|
NM_032806.6(POMGNT2):c.364G>T (p.Val122Leu)
|
rs149948290
|
|
NM_032806.6(POMGNT2):c.36G>T (p.Val12=)
|
|
|
NM_032806.6(POMGNT2):c.37T>G (p.Ser13Ala)
|
rs2089855148
|
|
NM_032806.6(POMGNT2):c.380C>G (p.Thr127Ser)
|
rs2125700845
|
|
NM_032806.6(POMGNT2):c.381_382del (p.Gln128fs)
|
|
|
NM_032806.6(POMGNT2):c.396C>T (p.Phe132=)
|
rs150567400
|
|
NM_032806.6(POMGNT2):c.39G>A (p.Ser13=)
|
rs59831271
|
|
NM_032806.6(POMGNT2):c.39G>C (p.Ser13=)
|
rs59831271
|
|
NM_032806.6(POMGNT2):c.40del (p.Val14fs)
|
|
|
NM_032806.6(POMGNT2):c.410_411delinsG (p.Ala137fs)
|
rs2125700808
|
|
NM_032806.6(POMGNT2):c.415G>C (p.Ala139Pro)
|
rs2125700805
|
|
NM_032806.6(POMGNT2):c.424T>A (p.Phe142Ile)
|
rs2125700782
|
|
NM_032806.6(POMGNT2):c.441G>T (p.Val147=)
|
rs2089848677
|
|
NM_032806.6(POMGNT2):c.442T>C (p.Phe148Leu)
|
rs1575462833
|
|
NM_032806.6(POMGNT2):c.451G>C (p.Asp151His)
|
rs2089848441
|
|
NM_032806.6(POMGNT2):c.458C>G (p.Ala153Gly)
|
rs1559414712
|
|
NM_032806.6(POMGNT2):c.466G>A (p.Ala156Thr)
|
rs145184880
|
|
NM_032806.6(POMGNT2):c.471C>T (p.Asn157=)
|
|
|
NM_032806.6(POMGNT2):c.478A>C (p.Asn160His)
|
rs773297624
|
|
NM_032806.6(POMGNT2):c.483C>T (p.Pro161=)
|
rs548747822
|
|
NM_032806.6(POMGNT2):c.503T>C (p.Phe168Ser)
|
rs2125700641
|
|
NM_032806.6(POMGNT2):c.513C>T (p.Asp171=)
|
rs1575462703
|
|
NM_032806.6(POMGNT2):c.514C>T (p.Leu172=)
|
|
|
NM_032806.6(POMGNT2):c.528C>T (p.Phe176=)
|
rs777276517
|
|
NM_032806.6(POMGNT2):c.531C>T (p.Tyr177=)
|
|
|
NM_032806.6(POMGNT2):c.535C>T (p.Leu179=)
|
|
|
NM_032806.6(POMGNT2):c.538C>A (p.Arg180=)
|
rs371895867
|
|
NM_032806.6(POMGNT2):c.555G>A (p.Leu185=)
|
rs564420247
|
|
NM_032806.6(POMGNT2):c.561C>G (p.His187Gln)
|
|
|
NM_032806.6(POMGNT2):c.562G>A (p.Glu188Lys)
|
|
|
NM_032806.6(POMGNT2):c.573C>T (p.Leu191=)
|
|
|
NM_032806.6(POMGNT2):c.580A>T (p.Met194Leu)
|
|
|
NM_032806.6(POMGNT2):c.582G>T (p.Met194Ile)
|
rs1452053627
|
|
NM_032806.6(POMGNT2):c.595G>A (p.Glu199Lys)
|
|
|
NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del)
|
rs774277094
|
|
NM_032806.6(POMGNT2):c.610G>A (p.Asp204Asn)
|
rs761923554
|
|
NM_032806.6(POMGNT2):c.622C>T (p.Leu208=)
|
|
|
NM_032806.6(POMGNT2):c.625C>T (p.Leu209Phe)
|
rs140274895
|
|
NM_032806.6(POMGNT2):c.628A>G (p.Ser210Gly)
|
|
|
NM_032806.6(POMGNT2):c.629G>T (p.Ser210Ile)
|
rs561770941
|
|
NM_032806.6(POMGNT2):c.632C>T (p.Pro211Leu)
|
|
|
NM_032806.6(POMGNT2):c.641C>G (p.Pro214Arg)
|
|
|
NM_032806.6(POMGNT2):c.652G>A (p.Ala218Thr)
|
rs1559414478
|
|
NM_032806.6(POMGNT2):c.680T>A (p.Leu227Gln)
|
rs1559414462
|
|
NM_032806.6(POMGNT2):c.681G>A (p.Leu227=)
|
rs371425376
|
|
NM_032806.6(POMGNT2):c.681G>T (p.Leu227=)
|
rs371425376
|
|
NM_032806.6(POMGNT2):c.702G>T (p.Val234=)
|
|
|
NM_032806.6(POMGNT2):c.703G>T (p.Gly235Cys)
|
|
|
NM_032806.6(POMGNT2):c.706C>T (p.Leu236Phe)
|
rs2089843804
|
|
NM_032806.6(POMGNT2):c.717C>G (p.Ile239Met)
|
|
|
NM_032806.6(POMGNT2):c.723C>A (p.Thr241=)
|
|
|
NM_032806.6(POMGNT2):c.731A>G (p.Gln244Arg)
|
rs2089843560
|
|
NM_032806.6(POMGNT2):c.735T>C (p.Tyr245=)
|
|
|
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter)
|
rs1553618354
|
|
NM_032806.6(POMGNT2):c.747G>C (p.Gln249His)
|
rs762976283
|
|
NM_032806.6(POMGNT2):c.749C>T (p.Pro250Leu)
|
|
|
NM_032806.6(POMGNT2):c.762G>T (p.Lys254Asn)
|
rs115870061
|
|
NM_032806.6(POMGNT2):c.769A>G (p.Ile257Val)
|
|
|
NM_032806.6(POMGNT2):c.784A>G (p.Asn262Asp)
|
|
|
NM_032806.6(POMGNT2):c.786T>C (p.Asn262=)
|
|
|
NM_032806.6(POMGNT2):c.799T>A (p.Phe267Ile)
|
rs778188247
|
|
NM_032806.6(POMGNT2):c.811A>C (p.Met271Leu)
|
|
|
NM_032806.6(POMGNT2):c.817_818del (p.Glu273fs)
|
|
|
NM_032806.6(POMGNT2):c.820_821del (p.Lys274fs)
|
rs2125700249
|
|
NM_032806.6(POMGNT2):c.828C>A (p.Asn276Lys)
|
rs150404794
|
|
NM_032806.6(POMGNT2):c.837C>G (p.His279Gln)
|
rs2089842075
|
|
NM_032806.6(POMGNT2):c.837C>T (p.His279=)
|
rs2089842075
|
|
NM_032806.6(POMGNT2):c.839C>G (p.Thr280Arg)
|
rs1575462305
|
|
NM_032806.6(POMGNT2):c.844G>A (p.Val282Ile)
|
rs2089841975
|
|
NM_032806.6(POMGNT2):c.859G>A (p.Glu287Lys)
|
rs774815839
|
|
NM_032806.6(POMGNT2):c.881G>A (p.Arg294Gln)
|
|
|
NM_032806.6(POMGNT2):c.890A>G (p.Asn297Ser)
|
|
|
NM_032806.6(POMGNT2):c.891C>A (p.Asn297Lys)
|
rs1269685677
|
|
NM_032806.6(POMGNT2):c.906T>G (p.Asn302Lys)
|
rs781062694
|
|
NM_032806.6(POMGNT2):c.909G>A (p.Glu303=)
|
|
|
NM_032806.6(POMGNT2):c.915G>A (p.Glu305=)
|
|
|
NM_032806.6(POMGNT2):c.929T>C (p.Leu310Pro)
|
rs2125700151
|
|
NM_032806.6(POMGNT2):c.931G>A (p.Ala311Thr)
|
rs2089840767
|
|
NM_032806.6(POMGNT2):c.944A>G (p.Gln315Arg)
|
|
|
NM_032806.6(POMGNT2):c.979A>C (p.Thr327Pro)
|
rs1343154694
|
|
NM_032806.6(POMGNT2):c.993C>T (p.Val331=)
|
|
|
NM_058174.3(COL6A2):c.2654C>G (p.Thr885Ser)
|
|
|
NM_133642.5(LARGE1):c.*479A>T
|
rs886057459
|
|
NM_133642.5(LARGE1):c.*501T>C
|
rs886057457
|
|
NM_133642.5(LARGE1):c.*639T>G
|
rs373361875
|
|
NM_133642.5(LARGE1):c.*995T>C
|
rs1928531659
|
|
NM_133642.5(LARGE1):c.-202C>A
|
rs946350081
|
|
NM_133642.5(LARGE1):c.-292G>C
|
rs886057466
|
|
NM_133642.5(LARGE1):c.-377C>G
|
rs1218154642
|
|
NM_133642.5(LARGE1):c.1002C>A (p.Asp334Glu)
|
rs2147134497
|
|
NM_133642.5(LARGE1):c.1005+11A>G
|
|
|
NM_133642.5(LARGE1):c.1005+13G>T
|
|
|
NM_133642.5(LARGE1):c.1005+17G>T
|
|
|
NM_133642.5(LARGE1):c.1005+3G>A
|
|
|
NM_133642.5(LARGE1):c.1005+5G>A
|
rs1204892970
|
|
NM_133642.5(LARGE1):c.1005+9C>G
|
|
|
NM_133642.5(LARGE1):c.1006-11del
|
|
|
NM_133642.5(LARGE1):c.1006-20C>T
|
|
|
NM_133642.5(LARGE1):c.1006-4C>T
|
|
|
NM_133642.5(LARGE1):c.1006-5C>T
|
rs977498462
|
|
NM_133642.5(LARGE1):c.1006-6C>T
|
|
|
NM_133642.5(LARGE1):c.1006-7C>A
|
|
|
NM_133642.5(LARGE1):c.1014C>T (p.Phe338=)
|
rs758924905
|
|
NM_133642.5(LARGE1):c.1016A>G (p.Asn339Ser)
|
|
|
NM_133642.5(LARGE1):c.1019C>T (p.Ala340Val)
|
|
|
NM_133642.5(LARGE1):c.1021G>A (p.Val341Ile)
|
|
|
NM_133642.5(LARGE1):c.1029A>G (p.Lys343=)
|
|
|
NM_133642.5(LARGE1):c.102C>T (p.Phe34=)
|
|
|
NM_133642.5(LARGE1):c.1030C>T (p.Gln344Ter)
|
|
|
NM_133642.5(LARGE1):c.1033_1034dup (p.Asn345fs)
|
rs1569112355
|
|
NM_133642.5(LARGE1):c.1047G>A (p.Val349=)
|
|
|
NM_133642.5(LARGE1):c.1050C>T (p.Tyr350=)
|
|
|
NM_133642.5(LARGE1):c.106+10G>A
|
|
|
NM_133642.5(LARGE1):c.106+14C>T
|
|
|
NM_133642.5(LARGE1):c.106+3A>T
|
|
|
NM_133642.5(LARGE1):c.106+7A>G
|
|
|
NM_133642.5(LARGE1):c.107-11T>C
|
|
|
NM_133642.5(LARGE1):c.107-19C>G
|
|
|
NM_133642.5(LARGE1):c.107-6C>T
|
|
|
NM_133642.5(LARGE1):c.107-7T>C
|
|
|
NM_133642.5(LARGE1):c.107-9G>A
|
|
|
NM_133642.5(LARGE1):c.1093C>T (p.Arg365Cys)
|
rs1361308052
|
|
NM_133642.5(LARGE1):c.1095C>A (p.Arg365=)
|
rs775639749
|
|
NM_133642.5(LARGE1):c.1095C>T (p.Arg365=)
|
|
|
NM_133642.5(LARGE1):c.1098C>T (p.Ser366=)
|
|
|
NM_133642.5(LARGE1):c.1110C>T (p.Tyr370=)
|
|
|
NM_133642.5(LARGE1):c.1113A>G (p.Arg371=)
|
|
|
NM_133642.5(LARGE1):c.1119G>C (p.Val373=)
|
|
|
NM_133642.5(LARGE1):c.1126C>T (p.Leu376=)
|
|
|
NM_133642.5(LARGE1):c.1131+10A>T
|
|
|
NM_133642.5(LARGE1):c.1131+11C>T
|
|
|
NM_133642.5(LARGE1):c.1131+12_1131+13insAACAGAGGGACATCCCTGGAGGTAGGGTG
|
rs2147112788
|
|
NM_133642.5(LARGE1):c.1131+15G>C
|
|
|
NM_133642.5(LARGE1):c.1131+16G>T
|
|
|
NM_133642.5(LARGE1):c.1131+17G>A
|
|
|
NM_133642.5(LARGE1):c.1131+4G>A
|
|
|
NM_133642.5(LARGE1):c.1132-10T>C
|
|
|
NM_133642.5(LARGE1):c.1132-11C>G
|
|
|
NM_133642.5(LARGE1):c.1132-16del
|
|
|
NM_133642.5(LARGE1):c.1132-2A>G
|
|
|
NM_133642.5(LARGE1):c.1132-4C>A
|
|
|
NM_133642.5(LARGE1):c.1132-4C>T
|
|
|
NM_133642.5(LARGE1):c.1132-5G>T
|
|
|
NM_133642.5(LARGE1):c.1138C>G (p.His380Asp)
|
rs1938648531
|
|
NM_133642.5(LARGE1):c.1140C>T (p.His380=)
|
|
|
NM_133642.5(LARGE1):c.115C>T (p.Pro39Ser)
|
|
|
NM_133642.5(LARGE1):c.1162C>T (p.Arg388Trp)
|
rs767127452
|
|
NM_133642.5(LARGE1):c.1170G>A (p.Lys390=)
|
|
|
NM_133642.5(LARGE1):c.1176G>A (p.Lys392=)
|
|
|
NM_133642.5(LARGE1):c.1185G>A (p.Glu395=)
|
rs1431706655
|
|
NM_133642.5(LARGE1):c.118G>C (p.Val40Leu)
|
rs188675457
|
|
NM_133642.5(LARGE1):c.118G>T (p.Val40Leu)
|
rs188675457
|
|
NM_133642.5(LARGE1):c.1192C>T (p.Arg398Cys)
|
rs1376994263
|
|
NM_133642.5(LARGE1):c.1196A>C (p.Asn399Thr)
|
|
|
NM_133642.5(LARGE1):c.1200C>G (p.Leu400=)
|
|
|
NM_133642.5(LARGE1):c.1201_1202delinsCT (p.Tyr401Leu)
|
rs1938639225
|
|
NM_133642.5(LARGE1):c.1206G>A (p.Leu402=)
|
rs982770696
|
|
NM_133642.5(LARGE1):c.1209del (p.Phe404fs)
|
rs1938637889
|
|
NM_133642.5(LARGE1):c.120G>A (p.Val40=)
|
|
|
NM_133642.5(LARGE1):c.1224C>T (p.Asp408=)
|
|
|
NM_133642.5(LARGE1):c.1225G>A (p.Gly409Ser)
|
rs1555898776
|
|
NM_133642.5(LARGE1):c.122C>T (p.Ser41Phe)
|
|
|
NM_133642.5(LARGE1):c.123T>A (p.Ser41=)
|
|
|
NM_133642.5(LARGE1):c.123T>C (p.Ser41=)
|
|
|
NM_133642.5(LARGE1):c.1242G>A (p.Arg414=)
|
|
|
NM_133642.5(LARGE1):c.124C>T (p.Leu42=)
|
|
|
NM_133642.5(LARGE1):c.1250T>G (p.Phe417Cys)
|
|
|
NM_133642.5(LARGE1):c.1254C>T (p.Gly418=)
|
|
|
NM_133642.5(LARGE1):c.1257C>T (p.Cys419=)
|
|
|
NM_133642.5(LARGE1):c.1261A>G (p.Ser421Gly)
|
rs905900345
|
|
NM_133642.5(LARGE1):c.1272T>A (p.Asp424Glu)
|
|
|
NM_133642.5(LARGE1):c.1272T>C (p.Asp424=)
|
|
|
NM_133642.5(LARGE1):c.1279A>G (p.Ser427Gly)
|
rs1938625368
|
|
NM_133642.5(LARGE1):c.1287+12G>T
|
rs370541163
|
|
NM_133642.5(LARGE1):c.1287+15_1287+16insGGCTCGCAAAA
|
|
|
NM_133642.5(LARGE1):c.1287+17G>T
|
|
|
NM_133642.5(LARGE1):c.1287+19T>C
|
|
|
NM_133642.5(LARGE1):c.1287+1G>A
|
|
|
NM_133642.5(LARGE1):c.1287+1G>C
|
|
|
NM_133642.5(LARGE1):c.1287+2dup
|
rs2146570024
|
|
NM_133642.5(LARGE1):c.1288-10T>C
|
|
|
NM_133642.5(LARGE1):c.1288-12C>G
|
|
|
NM_133642.5(LARGE1):c.1288-18C>G
|
rs750499971
|
|
NM_133642.5(LARGE1):c.1288-18C>T
|
|
|
NM_133642.5(LARGE1):c.1288-19C>A
|
rs1263961982
|
|
NM_133642.5(LARGE1):c.1288-6C>G
|
|
|
NM_133642.5(LARGE1):c.1288-6C>T
|
|
|
NM_133642.5(LARGE1):c.1288-7C>G
|
|
|
NM_133642.5(LARGE1):c.1288C>G (p.Leu430Val)
|
rs775051738
|
|
NM_133642.5(LARGE1):c.129A>G (p.Ser43=)
|
|
|
NM_133642.5(LARGE1):c.1308G>C (p.Glu436Asp)
|
|
|
NM_133642.5(LARGE1):c.1321G>A (p.Asp441Asn)
|
rs915849571
|
|
NM_133642.5(LARGE1):c.132G>A (p.Pro44=)
|
|
|
NM_133642.5(LARGE1):c.132G>C (p.Pro44=)
|
|
|
NM_133642.5(LARGE1):c.132G>T (p.Pro44=)
|
|
|
NM_133642.5(LARGE1):c.1339C>T (p.Arg447Trp)
|
|
|
NM_133642.5(LARGE1):c.1343G>A (p.Arg448Gln)
|
rs1064796524
|
|
NM_133642.5(LARGE1):c.1348C>T (p.Arg450Cys)
|
rs754744384
|
|
NM_133642.5(LARGE1):c.1357G>A (p.Val453Ile)
|
|
|
NM_133642.5(LARGE1):c.1371C>T (p.His457=)
|
|
|
NM_133642.5(LARGE1):c.1372C>T (p.Leu458=)
|
|
|
NM_133642.5(LARGE1):c.1374G>A (p.Leu458=)
|
|
|
NM_133642.5(LARGE1):c.1380C>T (p.Phe460=)
|
rs764722483
|
|
NM_133642.5(LARGE1):c.1381C>T (p.Leu461=)
|
rs2146303992
|
|
NM_133642.5(LARGE1):c.1383G>A (p.Leu461=)
|
|
|
NM_133642.5(LARGE1):c.1385A>G (p.His462Arg)
|
rs775726150
|
|
NM_133642.5(LARGE1):c.1390G>T (p.Glu464Ter)
|
|
|
NM_133642.5(LARGE1):c.1392G>A (p.Glu464=)
|
|
|
NM_133642.5(LARGE1):c.1396G>A (p.Glu466Lys)
|
rs774223611
|
|
NM_133642.5(LARGE1):c.140C>T (p.Ser47Phe)
|
rs1427588155
|
|
NM_133642.5(LARGE1):c.1411A>G (p.Ser471Gly)
|
rs1936127827
|
|
NM_133642.5(LARGE1):c.1419C>T (p.Asp473=)
|
|
|
NM_133642.5(LARGE1):c.1420G>T (p.Val474Phe)
|
rs150861748
|
|
NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met)
|
rs369168322
|
|
NM_133642.5(LARGE1):c.1428G>A (p.Leu476=)
|
|
|
NM_133642.5(LARGE1):c.1431C>G (p.Val477=)
|
rs987466965
|
|
NM_133642.5(LARGE1):c.1433C>T (p.Ala478Val)
|
|
|
NM_133642.5(LARGE1):c.1434T>G (p.Ala478=)
|
rs2146303266
|
|
NM_133642.5(LARGE1):c.1440G>A (p.Leu480=)
|
|
|
NM_133642.5(LARGE1):c.1451+12G>C
|
|
|
NM_133642.5(LARGE1):c.1451+13G>A
|
|
|
NM_133642.5(LARGE1):c.1451+9G>C
|
|
|
NM_133642.5(LARGE1):c.1452-13C>T
|
|
|
NM_133642.5(LARGE1):c.1452-13dup
|
|
|
NM_133642.5(LARGE1):c.1452-19C>T
|
|
|
NM_133642.5(LARGE1):c.1452-9C>A
|
|
|
NM_133642.5(LARGE1):c.1457A>G (p.Gln486Arg)
|
rs925299001
|
|
NM_133642.5(LARGE1):c.1464G>A (p.Leu488=)
|
rs1361522471
|
|
NM_133642.5(LARGE1):c.1473C>A (p.Ile491=)
|
rs1602325498
|
|
NM_133642.5(LARGE1):c.1487A>G (p.Glu496Gly)
|
|
|
NM_133642.5(LARGE1):c.1488G>A (p.Glu496=)
|
|
|
NM_133642.5(LARGE1):c.1497C>G (p.Ile499Met)
|
|
|
NM_133642.5(LARGE1):c.1497C>T (p.Ile499=)
|
|
|
NM_133642.5(LARGE1):c.1501C>T (p.Leu501=)
|
|
|
NM_133642.5(LARGE1):c.1503G>C (p.Leu501=)
|
|
|
NM_133642.5(LARGE1):c.1503G>T (p.Leu501=)
|
rs1323217190
|
|
NM_133642.5(LARGE1):c.1512C>T (p.Tyr504=)
|
rs1602325222
|
|
NM_133642.5(LARGE1):c.1521C>T (p.Asp507=)
|
rs1312649028
|
|
NM_133642.5(LARGE1):c.1524C>T (p.Ala508=)
|
rs747233486
|
|
NM_133642.5(LARGE1):c.152G>A (p.Ser51Asn)
|
rs758152995
|
|
NM_133642.5(LARGE1):c.1536G>A (p.Gln512=)
|
|
|
NM_133642.5(LARGE1):c.1538dup (p.Leu514fs)
|
|
|
NM_133642.5(LARGE1):c.1539C>T (p.Phe513=)
|
|
|
NM_133642.5(LARGE1):c.153C>T (p.Ser51=)
|
|
|
NM_133642.5(LARGE1):c.1545C>G (p.Arg515=)
|
|
|
NM_133642.5(LARGE1):c.1549G>A (p.Ala517Thr)
|
|
|
NM_133642.5(LARGE1):c.1551A>G (p.Ala517=)
|
rs2146165347
|
|
NM_133642.5(LARGE1):c.1553A>C (p.Gln518Pro)
|
rs756533976
|
|
NM_133642.5(LARGE1):c.1554G>A (p.Gln518=)
|
|
|
NM_133642.5(LARGE1):c.1566G>A (p.Val522=)
|
|
|
NM_133642.5(LARGE1):c.156dup (p.Arg53fs)
|
|
|
NM_133642.5(LARGE1):c.1570A>T (p.Met524Leu)
|
rs2146165030
|
|
NM_133642.5(LARGE1):c.1586T>C (p.Val529Ala)
|
rs2146164640
|
|
NM_133642.5(LARGE1):c.1593C>T (p.Tyr531=)
|
rs1001705325
|
|
NM_133642.5(LARGE1):c.159G>A (p.Arg53=)
|
rs778498257
|
|
NM_133642.5(LARGE1):c.15C>T (p.Cys5=)
|
|
|
NM_133642.5(LARGE1):c.1600G>A (p.Val534Met)
|
rs1428533575
|
|
NM_133642.5(LARGE1):c.1601T>C (p.Val534Ala)
|
|
|
NM_133642.5(LARGE1):c.1602G>A (p.Val534=)
|
|
|
NM_133642.5(LARGE1):c.1612G>A (p.Gly538Ser)
|
rs768675700
|
|
NM_133642.5(LARGE1):c.1616_1620delinsG (p.Gln539fs)
|
|
|
NM_133642.5(LARGE1):c.1617G>A (p.Gln539=)
|
rs2146164178
|
|
NM_133642.5(LARGE1):c.1626C>G (p.Pro542=)
|
|
|
NM_133642.5(LARGE1):c.1636C>T (p.Leu546=)
|
|
|
NM_133642.5(LARGE1):c.1638G>A (p.Leu546=)
|
|
|
NM_133642.5(LARGE1):c.1640G>A (p.Arg547His)
|
rs1232298989
|
|
NM_133642.5(LARGE1):c.164C>A (p.Thr55Lys)
|
|
|
NM_133642.5(LARGE1):c.1656G>A (p.Lys552=)
|
rs138573955
|
|
NM_133642.5(LARGE1):c.1656G>C (p.Lys552Asn)
|
rs138573955
|
|
NM_133642.5(LARGE1):c.1659C>T (p.His553=)
|
|
|
NM_133642.5(LARGE1):c.1671del (p.Tyr558fs)
|
|
|
NM_133642.5(LARGE1):c.1676T>A (p.Met559Lys)
|
rs2146163535
|
|
NM_133642.5(LARGE1):c.1683G>A (p.Leu561=)
|
rs2146163430
|
|
NM_133642.5(LARGE1):c.1685C>T (p.Ser562Phe)
|
rs2146163397
|
|
NM_133642.5(LARGE1):c.1699del (p.Leu567fs)
|
rs1934564024
|
|
NM_133642.5(LARGE1):c.16A>C (p.Arg6=)
|
rs886038552
|
|
NM_133642.5(LARGE1):c.171del (p.Ser58fs)
|
|
|
NM_133642.5(LARGE1):c.1728C>T (p.Leu576=)
|
|
|
NM_133642.5(LARGE1):c.1730+13A>G
|
|
|
NM_133642.5(LARGE1):c.1730+16G>A
|
|
|
NM_133642.5(LARGE1):c.1730+1G>A
|
rs898695674
|
|
NM_133642.5(LARGE1):c.1730+7A>G
|
|
|
NM_133642.5(LARGE1):c.1730+8C>T
|
rs201267374
|
|
NM_133642.5(LARGE1):c.1731-10C>A
|
|
|
NM_133642.5(LARGE1):c.1731-11C>A
|
|
|
NM_133642.5(LARGE1):c.1731-17C>T
|
|
|
NM_133642.5(LARGE1):c.1731-18C>T
|
|
|
NM_133642.5(LARGE1):c.1731-8_1731-7del
|
|
|
NM_133642.5(LARGE1):c.1731-9T>C
|
|
|
NM_133642.5(LARGE1):c.1743C>G (p.Ile581Met)
|
rs747357315
|
|
NM_133642.5(LARGE1):c.1750G>A (p.Asp584Asn)
|
|
|
NM_133642.5(LARGE1):c.1759A>G (p.Asn587Asp)
|
rs749685972
|
|
NM_133642.5(LARGE1):c.1761C>T (p.Asn587=)
|
|
|
NM_133642.5(LARGE1):c.1765A>G (p.Lys589Glu)
|
rs1602229899
|
|
NM_133642.5(LARGE1):c.176A>T (p.Gln59Leu)
|
rs2080769500
|
|
NM_133642.5(LARGE1):c.1770A>G (p.Lys590=)
|
|
|
NM_133642.5(LARGE1):c.1772C>T (p.Ala591Val)
|
|
|
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile)
|
rs576967464
|
|
NM_133642.5(LARGE1):c.1788G>T (p.Ala596=)
|
rs74550830
|
|
NM_133642.5(LARGE1):c.1802G>A (p.Arg601His)
|
rs771376144
|
|
NM_133642.5(LARGE1):c.1808G>A (p.Arg603Gln)
|
|
|
NM_133642.5(LARGE1):c.1811del (p.Leu604fs)
|
rs2145893296
|
|
NM_133642.5(LARGE1):c.1812G>A (p.Leu604=)
|
|
|
NM_133642.5(LARGE1):c.1818C>T (p.Phe606=)
|
|
|
NM_133642.5(LARGE1):c.1821C>G (p.Pro607=)
|
|
|
NM_133642.5(LARGE1):c.183G>A (p.Glu61=)
|
rs2149183104
|
|
NM_133642.5(LARGE1):c.1842G>A (p.Leu614=)
|
|
|
NM_133642.5(LARGE1):c.1846A>T (p.Met616Leu)
|
rs781142917
|
|
NM_133642.5(LARGE1):c.1849C>A (p.Leu617Met)
|
|
|
NM_133642.5(LARGE1):c.184_187del (p.Glu63fs)
|
|
|
NM_133642.5(LARGE1):c.1851G>A (p.Leu617=)
|
|
|
NM_133642.5(LARGE1):c.185G>A (p.Arg62His)
|
|
|
NM_133642.5(LARGE1):c.185G>T (p.Arg62Leu)
|
rs777156706
|
|
NM_133642.5(LARGE1):c.1862C>T (p.Thr621Ile)
|
rs1930806932
|
|
NM_133642.5(LARGE1):c.1863C>A (p.Thr621=)
|
rs1602229376
|
|
NM_133642.5(LARGE1):c.1864C>G (p.Leu622Val)
|
|
|
NM_133642.5(LARGE1):c.1869C>T (p.Phe623=)
|
|
|
NM_133642.5(LARGE1):c.186C>G (p.Arg62=)
|
rs535793068
|
|
NM_133642.5(LARGE1):c.186C>T (p.Arg62=)
|
|
|
NM_133642.5(LARGE1):c.1877+11C>G
|
|
|
NM_133642.5(LARGE1):c.1877+12T>C
|
|
|
NM_133642.5(LARGE1):c.1877+13A>G
|
|
|
NM_133642.5(LARGE1):c.1877+16T>C
|
|
|
NM_133642.5(LARGE1):c.1877+17G>A
|
|
|
NM_133642.5(LARGE1):c.1877+17G>C
|
|
|
NM_133642.5(LARGE1):c.1877+20G>A
|
|
|
NM_133642.5(LARGE1):c.1877+8del
|
|
|
NM_133642.5(LARGE1):c.1878-11G>A
|
|
|
NM_133642.5(LARGE1):c.1878-11GT[2]
|
|
|
NM_133642.5(LARGE1):c.1878-13C>T
|
|
|
NM_133642.5(LARGE1):c.1878-4T>A
|
rs2145832389
|
|
NM_133642.5(LARGE1):c.1880A>C (p.Tyr627Ser)
|
|
|
NM_133642.5(LARGE1):c.1884C>T (p.His628=)
|
rs78223631
|
|
NM_133642.5(LARGE1):c.188A>G (p.Glu63Gly)
|
rs539747006
|
|
NM_133642.5(LARGE1):c.1893G>T (p.Thr631=)
|
rs138011042
|
|
NM_133642.5(LARGE1):c.189G>A (p.Glu63=)
|
rs1602978054
|
|
NM_133642.5(LARGE1):c.1903G>A (p.Ala635Thr)
|
rs150325234
|
|
NM_133642.5(LARGE1):c.1905A>G (p.Ala635=)
|
rs756255025
|
|
NM_133642.5(LARGE1):c.1914C>T (p.Asn638=)
|
|
|
NM_133642.5(LARGE1):c.1920C>A (p.Ala640=)
|
rs2145831959
|
|
NM_133642.5(LARGE1):c.1927C>T (p.Arg643Trp)
|
|
|
NM_133642.5(LARGE1):c.1932C>G (p.Thr644=)
|
|
|
NM_133642.5(LARGE1):c.1940C>T (p.Thr647Met)
|
|
|
NM_133642.5(LARGE1):c.1947C>T (p.Tyr649=)
|
|
|
NM_133642.5(LARGE1):c.1948C>A (p.Arg650=)
|
|
|
NM_133642.5(LARGE1):c.1948C>T (p.Arg650Trp)
|
|
|
NM_133642.5(LARGE1):c.1956G>A (p.Glu652=)
|
|
|
NM_133642.5(LARGE1):c.1966G>A (p.Asp656Asn)
|
|
|
NM_133642.5(LARGE1):c.1976C>T (p.Pro659Leu)
|
rs778669044
|
|
NM_133642.5(LARGE1):c.1977G>A (p.Pro659=)
|
rs768565081
|
|
NM_133642.5(LARGE1):c.1978T>C (p.Tyr660His)
|
|
|
NM_133642.5(LARGE1):c.198G>A (p.Glu66=)
|
|
|
NM_133642.5(LARGE1):c.1991G>C (p.Arg664Thr)
|
rs1929475941
|
|
NM_133642.5(LARGE1):c.1998C>G (p.Asp666Glu)
|
rs144197077
|
|
NM_133642.5(LARGE1):c.1998C>T (p.Asp666=)
|
|
|
NM_133642.5(LARGE1):c.1999dup (p.Cys667fs)
|
|
|
NM_133642.5(LARGE1):c.2010C>T (p.Tyr670=)
|
|
|
NM_133642.5(LARGE1):c.2034C>G (p.Gly678=)
|
|
|
NM_133642.5(LARGE1):c.2046G>A (p.Val682=)
|
|
|
NM_133642.5(LARGE1):c.204C>T (p.Arg68=)
|
|
|
NM_133642.5(LARGE1):c.2052T>C (p.His684=)
|
|
|
NM_133642.5(LARGE1):c.2064G>A (p.Leu688=)
|
|
|
NM_133642.5(LARGE1):c.2073+12G>A
|
rs377566674
|
|
NM_133642.5(LARGE1):c.2073+12G>T
|
rs377566674
|
|
NM_133642.5(LARGE1):c.2073+13G>T
|
|
|
NM_133642.5(LARGE1):c.2073+16C>A
|
|
|
NM_133642.5(LARGE1):c.2073+20C>T
|
|
|
NM_133642.5(LARGE1):c.2074-11T>C
|
|
|
NM_133642.5(LARGE1):c.2074-12G>T
|
|
|
NM_133642.5(LARGE1):c.2074-16T>A
|
|
|
NM_133642.5(LARGE1):c.2074-18G>A
|
rs1928830929
|
|
NM_133642.5(LARGE1):c.2074-18G>C
|
|
|
NM_133642.5(LARGE1):c.2074-18G>T
|
|
|
NM_133642.5(LARGE1):c.2074-3del
|
rs2145803199
|
|
NM_133642.5(LARGE1):c.2074-4C>G
|
|
|
NM_133642.5(LARGE1):c.2074-7C>T
|
|
|
NM_133642.5(LARGE1):c.2074-8T>G
|
rs2145803317
|
|
NM_133642.5(LARGE1):c.2078A>G (p.Tyr693Cys)
|
|
|
NM_133642.5(LARGE1):c.2079T>C (p.Tyr693=)
|
rs996290544
|
|
NM_133642.5(LARGE1):c.2082_2105del (p.Glu694_Tyr702delinsAsp)
|
rs1928816149
|
|
NM_133642.5(LARGE1):c.2091G>A (p.Val697=)
|
rs2145802982
|
|
NM_133642.5(LARGE1):c.2097C>T (p.Pro699=)
|
|
|
NM_133642.5(LARGE1):c.2119C>G (p.Pro707Ala)
|
|
|
NM_133642.5(LARGE1):c.2130C>T (p.Pro710=)
|
|
|
NM_133642.5(LARGE1):c.2133C>T (p.Ser711=)
|
|
|
NM_133642.5(LARGE1):c.2139C>T (p.Asp713=)
|
|
|
NM_133642.5(LARGE1):c.2142T>C (p.Ile714=)
|
rs1358320451
|
|
NM_133642.5(LARGE1):c.2148G>A (p.Lys716=)
|
rs1602189714
|
|
NM_133642.5(LARGE1):c.2152C>T (p.Arg718Cys)
|
|
|
NM_133642.5(LARGE1):c.2153G>C (p.Arg718Pro)
|
rs1263627262
|
|
NM_133642.5(LARGE1):c.2160C>T (p.Asn720=)
|
|
|
NM_133642.5(LARGE1):c.2166A>G (p.Gln722=)
|
|
|
NM_133642.5(LARGE1):c.216G>T (p.Val72=)
|
rs567998643
|
|
NM_133642.5(LARGE1):c.2171G>A (p.Arg724His)
|
rs376907568
|
|
NM_133642.5(LARGE1):c.2175C>G (p.Ile725Met)
|
rs1928785534
|
|
NM_133642.5(LARGE1):c.2181C>G (p.Leu727=)
|
|
|
NM_133642.5(LARGE1):c.2190C>T (p.Leu730=)
|
|
|
NM_133642.5(LARGE1):c.2196A>G (p.Glu732=)
|
|
|
NM_133642.5(LARGE1):c.21G>A (p.Gly7=)
|
|
|
NM_133642.5(LARGE1):c.21G>T (p.Gly7=)
|
rs2084726573
|
|
NM_133642.5(LARGE1):c.2206C>G (p.Gln736Glu)
|
rs2145801430
|
|
NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys)
|
rs757062605
|
|
NM_133642.5(LARGE1):c.2212A>G (p.Met738Val)
|
rs1928773545
|
|
NM_133642.5(LARGE1):c.2217C>G (p.Ser739=)
|
rs1406330296
|
|
NM_133642.5(LARGE1):c.2219G>A (p.Arg740His)
|
|
|
NM_133642.5(LARGE1):c.2221C>T (p.Arg741Cys)
|
|
|
NM_133642.5(LARGE1):c.2247T>C (p.Tyr749=)
|
|
|
NM_133642.5(LARGE1):c.2253A>G (p.Thr751=)
|
|
|
NM_133642.5(LARGE1):c.2256C>A (p.Ala752=)
|
rs114246562
|
|
NM_133642.5(LARGE1):c.225G>A (p.Glu75=)
|
|
|
NM_133642.5(LARGE1):c.2261ACA[1] (p.Asn755del)
|
|
|
NM_133642.5(LARGE1):c.2262C>T (p.Asn754=)
|
|
|
NM_133642.5(LARGE1):c.2271G>A (p.Ter757=)
|
|
|
NM_133642.5(LARGE1):c.229C>G (p.Arg77Gly)
|
|
|
NM_133642.5(LARGE1):c.231C>T (p.Arg77=)
|
|
|
NM_133642.5(LARGE1):c.234C>T (p.Ala78=)
|
|
|
NM_133642.5(LARGE1):c.237C>T (p.Leu79=)
|
|
|
NM_133642.5(LARGE1):c.241A>C (p.Arg81=)
|
|
|
NM_133642.5(LARGE1):c.246G>T (p.Gln82His)
|
rs768234422
|
|
NM_133642.5(LARGE1):c.247C>T (p.Leu83Phe)
|
rs748795300
|
|
NM_133642.5(LARGE1):c.24A>G (p.Arg8=)
|
|
|
NM_133642.5(LARGE1):c.251G>T (p.Ser84Ile)
|
rs398124184
|
|
NM_133642.5(LARGE1):c.254_259dup (p.Leu85_Ala86dup)
|
rs759978690
|
|
NM_133642.5(LARGE1):c.255G>A (p.Leu85=)
|
|
|
NM_133642.5(LARGE1):c.265C>T (p.Arg89Ter)
|
rs1359437833
|
|
NM_133642.5(LARGE1):c.276C>G (p.Ser92=)
|
|
|
NM_133642.5(LARGE1):c.27G>A (p.Arg9=)
|
rs2145729287
|
|
NM_133642.5(LARGE1):c.281G>A (p.Arg94His)
|
rs754383742
|
|
NM_133642.5(LARGE1):c.283C>T (p.Arg95Ter)
|
rs761071115
|
|
NM_133642.5(LARGE1):c.287G>A (p.Gly96Asp)
|
rs1569341949
|
|
NM_133642.5(LARGE1):c.297C>T (p.Ser99=)
|
|
|
NM_133642.5(LARGE1):c.303C>T (p.Thr101=)
|
|
|
NM_133642.5(LARGE1):c.321C>T (p.Gly107=)
|
|
|
NM_133642.5(LARGE1):c.326G>C (p.Gly109Ala)
|
rs2149181937
|
|
NM_133642.5(LARGE1):c.334G>T (p.Glu112Ter)
|
rs146078928
|
|
NM_133642.5(LARGE1):c.336G>A (p.Glu112=)
|
rs1555983855
|
|
NM_133642.5(LARGE1):c.336G>T (p.Glu112Asp)
|
rs1555983855
|
|
NM_133642.5(LARGE1):c.344G>T (p.Arg115Leu)
|
rs755087786
|
|
NM_133642.5(LARGE1):c.351C>T (p.Gly117=)
|
|
|
NM_133642.5(LARGE1):c.354C>T (p.Ile118=)
|
|
|
NM_133642.5(LARGE1):c.357G>T (p.Val119=)
|
|
|
NM_133642.5(LARGE1):c.366C>A (p.Asn122Lys)
|
rs2080759268
|
|
NM_133642.5(LARGE1):c.36G>A (p.Leu12=)
|
rs1601552169
|
|
NM_133642.5(LARGE1):c.372C>T (p.Ser124=)
|
|
|
NM_133642.5(LARGE1):c.374A>T (p.Glu125Val)
|
|
|
NM_133642.5(LARGE1):c.390G>A (p.Pro130=)
|
rs114558328
|
|
NM_133642.5(LARGE1):c.392T>C (p.Val131Ala)
|
|
|
NM_133642.5(LARGE1):c.394G>A (p.Val132Met)
|
rs913704656
|
|
NM_133642.5(LARGE1):c.405C>T (p.Cys135=)
|
|
|
NM_133642.5(LARGE1):c.408+17G>A
|
|
|
NM_133642.5(LARGE1):c.408+18C>T
|
|
|
NM_133642.5(LARGE1):c.408+19C>T
|
|
|
NM_133642.5(LARGE1):c.408+5A>G
|
|
|
NM_133642.5(LARGE1):c.409-15T>A
|
|
|
NM_133642.5(LARGE1):c.409-16C>T
|
|
|
NM_133642.5(LARGE1):c.420T>C (p.Val140=)
|
|
|
NM_133642.5(LARGE1):c.421G>A (p.Ala141Thr)
|
|
|
NM_133642.5(LARGE1):c.426T>C (p.Ile142=)
|
rs745996591
|
|
NM_133642.5(LARGE1):c.438A>C (p.Gly146=)
|
|
|
NM_133642.5(LARGE1):c.443A>G (p.Asn148Ser)
|
|
|
NM_133642.5(LARGE1):c.445G>T (p.Ala149Ser)
|
|
|
NM_133642.5(LARGE1):c.447C>G (p.Ala149=)
|
|
|
NM_133642.5(LARGE1):c.45G>T (p.Ser15=)
|
|
|
NM_133642.5(LARGE1):c.465C>T (p.Thr155=)
|
|
|
NM_133642.5(LARGE1):c.468G>C (p.Leu156=)
|
|
|
NM_133642.5(LARGE1):c.473A>C (p.Lys158Thr)
|
|
|
NM_133642.5(LARGE1):c.479T>G (p.Val160Gly)
|
rs1372134080
|
|
NM_133642.5(LARGE1):c.47T>G (p.Leu16Trp)
|
rs2145729155
|
|
NM_133642.5(LARGE1):c.483G>A (p.Leu161=)
|
rs987732719
|
|
NM_133642.5(LARGE1):c.483del (p.Phe162fs)
|
|
|
NM_133642.5(LARGE1):c.488A>G (p.His163Arg)
|
rs2149076676
|
|
NM_133642.5(LARGE1):c.491+11C>T
|
rs781066281
|
|
NM_133642.5(LARGE1):c.491+14C>A
|
|
|
NM_133642.5(LARGE1):c.491+14C>G
|
|
|
NM_133642.5(LARGE1):c.491+19C>G
|
|
|
NM_133642.5(LARGE1):c.491+19C>T
|
|
|
NM_133642.5(LARGE1):c.491+20T>C
|
|
|
NM_133642.5(LARGE1):c.491+20T>G
|
|
|
NM_133642.5(LARGE1):c.491+9A>G
|
|
|
NM_133642.5(LARGE1):c.492-14C>A
|
rs2079201212
|
|
NM_133642.5(LARGE1):c.492-20C>T
|
rs373205336
|
|
NM_133642.5(LARGE1):c.492-4A>G
|
|
|
NM_133642.5(LARGE1):c.492-5C>T
|
|
|
NM_133642.5(LARGE1):c.492-6C>T
|
|
|
NM_133642.5(LARGE1):c.493C>T (p.Arg165Trp)
|
rs765312193
|
|
NM_133642.5(LARGE1):c.495G>T (p.Arg165=)
|
|
|
NM_133642.5(LARGE1):c.512A>G (p.His171Arg)
|
rs2148979441
|
|
NM_133642.5(LARGE1):c.525C>T (p.Asp175=)
|
rs2148979372
|
|
NM_133642.5(LARGE1):c.528C>T (p.Ser176=)
|
|
|
NM_133642.5(LARGE1):c.52C>T (p.Leu18Phe)
|
|
|
NM_133642.5(LARGE1):c.534G>A (p.Ala178=)
|
|
|
NM_133642.5(LARGE1):c.542T>A (p.Ile181Asn)
|
rs2079198073
|
|
NM_133642.5(LARGE1):c.543C>T (p.Ile181=)
|
rs1478658613
|
|
NM_133642.5(LARGE1):c.555C>G (p.Leu185=)
|
|
|
NM_133642.5(LARGE1):c.569T>A (p.Met190Lys)
|
rs2079196838
|
|
NM_133642.5(LARGE1):c.573G>C (p.Val191=)
|
rs2148979075
|
|
NM_133642.5(LARGE1):c.576C>G (p.Pro192=)
|
|
|
NM_133642.5(LARGE1):c.57C>T (p.Leu19=)
|
rs1366657966
|
|
NM_133642.5(LARGE1):c.588G>A (p.Val196=)
|
|
|
NM_133642.5(LARGE1):c.592T>A (p.Phe198Ile)
|
rs2148978976
|
|
NM_133642.5(LARGE1):c.594C>A (p.Phe198Leu)
|
|
|
NM_133642.5(LARGE1):c.599A>G (p.Asn200Ser)
|
rs2148978936
|
|
NM_133642.5(LARGE1):c.606C>G (p.Asp202Glu)
|
rs759394642
|
|
NM_133642.5(LARGE1):c.615+10G>A
|
|
|
NM_133642.5(LARGE1):c.615+12A>T
|
|
|
NM_133642.5(LARGE1):c.615+15G>A
|
|
|
NM_133642.5(LARGE1):c.615+19G>A
|
|
|
NM_133642.5(LARGE1):c.615+7G>A
|
|
|
NM_133642.5(LARGE1):c.615+7dup
|
|
|
NM_133642.5(LARGE1):c.616-13T>G
|
|
|
NM_133642.5(LARGE1):c.616-14C>A
|
|
|
NM_133642.5(LARGE1):c.616-18C>G
|
|
|
NM_133642.5(LARGE1):c.616-20C>A
|
rs1235764173
|
|
NM_133642.5(LARGE1):c.616-20C>T
|
|
|
NM_133642.5(LARGE1):c.616-26CT[6]
|
|
|
NM_133642.5(LARGE1):c.616-4C>G
|
|
|
NM_133642.5(LARGE1):c.616-7T>G
|
|
|
NM_133642.5(LARGE1):c.620_621del (p.Glu207fs)
|
rs2148785084
|
|
NM_133642.5(LARGE1):c.621A>C (p.Glu207Asp)
|
rs926834717
|
|
NM_133642.5(LARGE1):c.624T>A (p.Val208=)
|
|
|
NM_133642.5(LARGE1):c.639T>C (p.Asn213=)
|
|
|
NM_133642.5(LARGE1):c.642A>G (p.Lys214=)
|
|
|
NM_133642.5(LARGE1):c.660T>C (p.Tyr220=)
|
|
|
NM_133642.5(LARGE1):c.681G>C (p.Leu227=)
|
|
|
NM_133642.5(LARGE1):c.684C>G (p.Thr228=)
|
|
|
NM_133642.5(LARGE1):c.690T>A (p.Thr230=)
|
|
|
NM_133642.5(LARGE1):c.690T>C (p.Thr230=)
|
rs753562472
|
|
NM_133642.5(LARGE1):c.691C>A (p.Leu231Ile)
|
|
|
NM_133642.5(LARGE1):c.696T>C (p.Pro232=)
|
|
|
NM_133642.5(LARGE1):c.6G>A (p.Leu2=)
|
|
|
NM_133642.5(LARGE1):c.705G>A (p.Leu235=)
|
|
|
NM_133642.5(LARGE1):c.720C>T (p.Val240=)
|
|
|
NM_133642.5(LARGE1):c.728C>T (p.Thr243Met)
|
|
|
NM_133642.5(LARGE1):c.72C>T (p.Ile24=)
|
rs727503994
|
|
NM_133642.5(LARGE1):c.731A>G (p.Asp244Gly)
|
|
|
NM_133642.5(LARGE1):c.73A>G (p.Thr25Ala)
|
rs1556032013
|
|
NM_133642.5(LARGE1):c.746C>A (p.Thr249Asn)
|
rs1256101536
|
|
NM_133642.5(LARGE1):c.750C>T (p.Asp250=)
|
|
|
NM_133642.5(LARGE1):c.752T>A (p.Ile251Asn)
|
rs2077976439
|
|
NM_133642.5(LARGE1):c.756A>G (p.Ala252=)
|
|
|
NM_133642.5(LARGE1):c.774C>T (p.Phe258=)
|
|
|
NM_133642.5(LARGE1):c.780G>A (p.Lys260=)
|
|
|
NM_133642.5(LARGE1):c.784A>G (p.Lys262Glu)
|
|
|
NM_133642.5(LARGE1):c.787+11C>T
|
|
|
NM_133642.5(LARGE1):c.787+17C>G
|
|
|
NM_133642.5(LARGE1):c.787+17C>T
|
|
|
NM_133642.5(LARGE1):c.787+18G>A
|
|
|
NM_133642.5(LARGE1):c.787+20T>G
|
|
|
NM_133642.5(LARGE1):c.787+5T>C
|
rs763571538
|
|
NM_133642.5(LARGE1):c.788-11G>A
|
|
|
NM_133642.5(LARGE1):c.788-11G>T
|
|
|
NM_133642.5(LARGE1):c.788-15C>T
|
|
|
NM_133642.5(LARGE1):c.788-17T>A
|
rs764260251
|
|
NM_133642.5(LARGE1):c.788-17T>C
|
|
|
NM_133642.5(LARGE1):c.788-18A>G
|
|
|
NM_133642.5(LARGE1):c.788-2A>G
|
|
|
NM_133642.5(LARGE1):c.788-5_826del
|
rs2147722687
|
|
NM_133642.5(LARGE1):c.788-8C>T
|
|
|
NM_133642.5(LARGE1):c.801G>C (p.Leu267=)
|
|
|
NM_133642.5(LARGE1):c.804C>A (p.Gly268=)
|
|
|
NM_133642.5(LARGE1):c.807G>A (p.Leu269=)
|
|
|
NM_133642.5(LARGE1):c.856C>T (p.Arg286Cys)
|
|
|
NM_133642.5(LARGE1):c.861A>G (p.Pro287=)
|
rs1257326994
|
|
NM_133642.5(LARGE1):c.861A>T (p.Pro287=)
|
|
|
NM_133642.5(LARGE1):c.864G>A (p.Trp288Ter)
|
|
|
NM_133642.5(LARGE1):c.872T>A (p.Leu291His)
|
|
|
NM_133642.5(LARGE1):c.87G>A (p.Leu29=)
|
|
|
NM_133642.5(LARGE1):c.87G>C (p.Leu29=)
|
rs2145728903
|
|
NM_133642.5(LARGE1):c.885C>T (p.Tyr295=)
|
rs1601816355
|
|
NM_133642.5(LARGE1):c.892+11A>G
|
|
|
NM_133642.5(LARGE1):c.892+11_892+12del
|
|
|
NM_133642.5(LARGE1):c.892+19A>C
|
|
|
NM_133642.5(LARGE1):c.892+7C>A
|
|
|
NM_133642.5(LARGE1):c.892+8C>T
|
|
|
NM_133642.5(LARGE1):c.893-10T>C
|
|
|
NM_133642.5(LARGE1):c.893-13T>C
|
|
|
NM_133642.5(LARGE1):c.893-14G>A
|
|
|
NM_133642.5(LARGE1):c.893-15T>G
|
|
|
NM_133642.5(LARGE1):c.893-16C>T
|
|
|
NM_133642.5(LARGE1):c.893-19A>T
|
|
|
NM_133642.5(LARGE1):c.893-21_893-20del
|
|
|
NM_133642.5(LARGE1):c.893-7T>C
|
|
|
NM_133642.5(LARGE1):c.893-9_893-8insATCCTGTGCTGCTGCCCAGGGGTG
|
|
|
NM_133642.5(LARGE1):c.895G>A (p.Val299Met)
|
rs1490201857
|
|
NM_133642.5(LARGE1):c.897G>C (p.Val299=)
|
rs532067255
|
|
NM_133642.5(LARGE1):c.909T>G (p.Leu303=)
|
rs563144239
|
|
NM_133642.5(LARGE1):c.912G>A (p.Leu304=)
|
|
|
NM_133642.5(LARGE1):c.919C>T (p.Leu307=)
|
|
|
NM_133642.5(LARGE1):c.922C>A (p.Arg308=)
|
|
|
NM_133642.5(LARGE1):c.922_923delinsAA (p.Arg308Lys)
|
rs2147135450
|
|
NM_133642.5(LARGE1):c.924G>A (p.Arg308=)
|
rs528836583
|
|
NM_133642.5(LARGE1):c.933A>G (p.Lys311=)
|
|
|
NM_133642.5(LARGE1):c.939G>A (p.Glu313=)
|
|
|
NM_133642.5(LARGE1):c.940C>G (p.Gln314Glu)
|
rs559892854
|
|
NM_133642.5(LARGE1):c.941_945dup (p.Trp316fs)
|
|
|
NM_133642.5(LARGE1):c.942G>T (p.Gln314His)
|
rs776701293
|
|
NM_133642.5(LARGE1):c.957C>A (p.Thr319=)
|
rs778094231
|
|
NM_133642.5(LARGE1):c.958G>T (p.Ala320Ser)
|
rs374774937
|
|
NM_133642.5(LARGE1):c.963G>A (p.Glu321=)
|
|
|
NM_133642.5(LARGE1):c.969G>T (p.Glu323Asp)
|
rs2065251813
|
|
NM_133642.5(LARGE1):c.96del (p.Ser33fs)
|
|
|
NM_133642.5(LARGE1):c.972C>T (p.Leu324=)
|
|
|
NM_133642.5(LARGE1):c.974T>C (p.Met325Thr)
|
rs2065251491
|
|
NM_133642.5(LARGE1):c.978C>T (p.Gly326=)
|
rs2065251221
|
|
NM_133642.5(LARGE1):c.984C>G (p.Leu328=)
|
|
|
NM_133642.5(LARGE1):c.987T>C (p.Ser329=)
|
|
|
NM_133642.5(LARGE1):c.992C>T (p.Ser331Phe)
|
rs267607210
|
|
NM_152490.4(B3GALNT2):c.[1438_1455dup18];[979G>A]
|
|
|
NM_152490.5(B3GALNT2):c.-138=
|
|
|
NM_152490.5(B3GALNT2):c.1009T>C (p.Leu337=)
|
|
|
NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser)
|
rs1553343724
|
|
NM_152490.5(B3GALNT2):c.1014C>T (p.Asn338=)
|
rs2102789767
|
|
NM_152490.5(B3GALNT2):c.1020_1021dup (p.Arg341fs)
|
rs1276205801
|
|
NM_152490.5(B3GALNT2):c.1025+13A>T
|
|
|
NM_152490.5(B3GALNT2):c.1025+14A>C
|
|
|
NM_152490.5(B3GALNT2):c.1025+16G>T
|
rs1005203212
|
|
NM_152490.5(B3GALNT2):c.1025+4G>C
|
rs770371145
|
|
NM_152490.5(B3GALNT2):c.1026-13T>C
|
|
|
NM_152490.5(B3GALNT2):c.1026-18T>C
|
|
|
NM_152490.5(B3GALNT2):c.1026-5A>T
|
|
|
NM_152490.5(B3GALNT2):c.1026G>T (p.Trp342Cys)
|
|
|
NM_152490.5(B3GALNT2):c.102C>T (p.Ala34=)
|
rs1358930332
|
|
NM_152490.5(B3GALNT2):c.1030G>A (p.Val344Met)
|
|
|
NM_152490.5(B3GALNT2):c.1032G>A (p.Val344=)
|
|
|
NM_152490.5(B3GALNT2):c.1034A>G (p.Glu345Gly)
|
|
|
NM_152490.5(B3GALNT2):c.1035AAC[1] (p.Thr347del)
|
rs2102784848
|
|
NM_152490.5(B3GALNT2):c.1038A>G (p.Thr346=)
|
|
|
NM_152490.5(B3GALNT2):c.1039A>C (p.Thr347Pro)
|
|
|
NM_152490.5(B3GALNT2):c.1039dup (p.Thr347fs)
|
rs2102784860
|
|
NM_152490.5(B3GALNT2):c.103G>A (p.Gly35Ser)
|
rs1355670872
|
|
NM_152490.5(B3GALNT2):c.1048A>C (p.Asn350His)
|
|
|
NM_152490.5(B3GALNT2):c.1050T>C (p.Asn350=)
|
|
|
NM_152490.5(B3GALNT2):c.1051T>C (p.Leu351=)
|
|
|
NM_152490.5(B3GALNT2):c.1052T>G (p.Leu351Trp)
|
rs772233739
|
|
NM_152490.5(B3GALNT2):c.1056G>A (p.Leu352=)
|
|
|
NM_152490.5(B3GALNT2):c.1057C>G (p.Leu353Val)
|
rs1553342995
|
|
NM_152490.5(B3GALNT2):c.1057C>T (p.Leu353=)
|
|
|
NM_152490.5(B3GALNT2):c.1066_1067del (p.Thr355_Asp356insTer)
|
rs781339765
|
|
NM_152490.5(B3GALNT2):c.1069G>C (p.Asp357His)
|
|
|
NM_152490.5(B3GALNT2):c.1076G>A (p.Cys359Tyr)
|
rs1553342979
|
|
NM_152490.5(B3GALNT2):c.107C>G (p.Pro36Arg)
|
rs1553356108
|
|
NM_152490.5(B3GALNT2):c.1081A>C (p.Ile361Leu)
|
rs1470669806
|
|
NM_152490.5(B3GALNT2):c.1088T>G (p.Leu363Arg)
|
|
|
NM_152490.5(B3GALNT2):c.1099T>G (p.Phe367Val)
|
|
|
NM_152490.5(B3GALNT2):c.10T>C (p.Trp4Arg)
|
rs1553356208
|
|
NM_152490.5(B3GALNT2):c.1108A>T (p.Ile370Phe)
|
rs1553342963
|
|
NM_152490.5(B3GALNT2):c.112+10T>G
|
rs1572574802
|
|
NM_152490.5(B3GALNT2):c.112+14G>A
|
|
|
NM_152490.5(B3GALNT2):c.112+9C>T
|
rs1055699299
|
|
NM_152490.5(B3GALNT2):c.113-1376C>T
|
rs1572560402
|
|
NM_152490.5(B3GALNT2):c.113-1439dup
|
rs1572560624
|
|
NM_152490.5(B3GALNT2):c.113-14G>A
|
|
|
NM_152490.5(B3GALNT2):c.113-14_113-12del
|
|
|
NM_152490.5(B3GALNT2):c.113-19G>A
|
rs2102863411
|
|
NM_152490.5(B3GALNT2):c.113-1G>C
|
rs2102863392
|
|
NM_152490.5(B3GALNT2):c.1152-17A>G
|
|
|
NM_152490.5(B3GALNT2):c.1152-19A>G
|
rs1553342808
|
|
NM_152490.5(B3GALNT2):c.1177C>G (p.Arg393Gly)
|
|
|
NM_152490.5(B3GALNT2):c.1177C>T (p.Arg393Ter)
|
rs1300792331
|
|
NM_152490.5(B3GALNT2):c.1187A>G (p.Lys396Arg)
|
|
|
NM_152490.5(B3GALNT2):c.1188G>A (p.Lys396=)
|
rs2102782719
|
|
NM_152490.5(B3GALNT2):c.1207C>T (p.Pro403Ser)
|
rs1683062458
|
|
NM_152490.5(B3GALNT2):c.1209G>A (p.Pro403=)
|
|
|
NM_152490.5(B3GALNT2):c.1209_1257dup (p.Lys420fs)
|
|
|
NM_152490.5(B3GALNT2):c.1211G>C (p.Ser404Thr)
|
|
|
NM_152490.5(B3GALNT2):c.1217C>T (p.Ala406Val)
|
|
|
NM_152490.5(B3GALNT2):c.1223C>G (p.Pro408Arg)
|
|
|
NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs)
|
rs1553342786
|
|
NM_152490.5(B3GALNT2):c.1233A>T (p.Ala411=)
|
rs1683061203
|
|
NM_152490.5(B3GALNT2):c.1244G>A (p.Gly415Glu)
|
|
|
NM_152490.5(B3GALNT2):c.1245A>T (p.Gly415=)
|
rs1683060580
|
|
NM_152490.5(B3GALNT2):c.1255T>A (p.Ser419Thr)
|
rs1281464527
|
|
NM_152490.5(B3GALNT2):c.1257C>T (p.Ser419=)
|
|
|
NM_152490.5(B3GALNT2):c.1266C>T (p.Ile422=)
|
rs762656574
|
|
NM_152490.5(B3GALNT2):c.1275_1278delinsCCT (p.Trp425fs)
|
rs1683058752
|
|
NM_152490.5(B3GALNT2):c.1279G>T (p.Ala427Ser)
|
rs773466522
|
|
NM_152490.5(B3GALNT2):c.1289C>T (p.Ser430Leu)
|
|
|
NM_152490.5(B3GALNT2):c.1290G>A (p.Ser430=)
|
rs1572482699
|
|
NM_152490.5(B3GALNT2):c.1293G>A (p.Gly431=)
|
|
|
NM_152490.5(B3GALNT2):c.1304C>A (p.Thr435Asn)
|
rs1683057478
|
|
NM_152490.5(B3GALNT2):c.1307A>G (p.Tyr436Cys)
|
|
|
NM_152490.5(B3GALNT2):c.1311+15C>A
|
rs2102782415
|
|
NM_152490.5(B3GALNT2):c.1311+1G>A
|
rs1379052702
|
|
NM_152490.5(B3GALNT2):c.1311+9_1311+11del
|
rs1572482653
|
|
NM_152490.5(B3GALNT2):c.1312-16T>C
|
|
|
NM_152490.5(B3GALNT2):c.1312-8A>G
|
rs2102780564
|
|
NM_152490.5(B3GALNT2):c.1318G>A (p.Asp440Asn)
|
rs1683005563
|
|
NM_152490.5(B3GALNT2):c.1337G>A (p.Trp446Ter)
|
|
|
NM_152490.5(B3GALNT2):c.1338G>A (p.Trp446Ter)
|
rs2102780481
|
|
NM_152490.5(B3GALNT2):c.133C>T (p.Gln45Ter)
|
rs1685241606
|
|
NM_152490.5(B3GALNT2):c.1366C>A (p.Gln456Lys)
|
|
|
NM_152490.5(B3GALNT2):c.1368+1G>C
|
rs1479230229
|
|
NM_152490.5(B3GALNT2):c.1368+3A>G
|
rs1558407116
|
|
NM_152490.5(B3GALNT2):c.1369-4A>G
|
|
|
NM_152490.5(B3GALNT2):c.1375C>T (p.Leu459=)
|
|
|
NM_152490.5(B3GALNT2):c.1388AGA[1] (p.Lys464del)
|
rs2102962642
|
|
NM_152490.5(B3GALNT2):c.1394C>T (p.Thr465Ile)
|
rs1682820322
|
|
NM_152490.5(B3GALNT2):c.1397G>A (p.Cys466Tyr)
|
rs1572474424
|
|
NM_152490.5(B3GALNT2):c.1409T>A (p.Met470Lys)
|
|
|
NM_152490.5(B3GALNT2):c.1418CTC[1] (p.Pro474del)
|
rs752758430
|
|
NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter)
|
rs367543077
|
|
NM_152490.5(B3GALNT2):c.1425G>A (p.Gln475=)
|
rs1682818290
|
|
NM_152490.5(B3GALNT2):c.1434G>T (p.Pro478=)
|
rs754116208
|
|
NM_152490.5(B3GALNT2):c.1443G>C (p.Leu481=)
|
|
|
NM_152490.5(B3GALNT2):c.1453_1454del (p.Trp485fs)
|
rs1682814778
|
|
NM_152490.5(B3GALNT2):c.1458A>G (p.Lys486=)
|
|
|
NM_152490.5(B3GALNT2):c.1461_1467delinsTC (p.Lys488fs)
|
|
|
NM_152490.5(B3GALNT2):c.1463A>G (p.Lys488Arg)
|
rs201145660
|
|
NM_152490.5(B3GALNT2):c.1467A>G (p.Glu489=)
|
|
|
NM_152490.5(B3GALNT2):c.1468C>A (p.Arg490=)
|
rs751445150
|
|
NM_152490.5(B3GALNT2):c.1468C>T (p.Arg490Trp)
|
rs751445150
|
|
NM_152490.5(B3GALNT2):c.1469G>A (p.Arg490Gln)
|
|
|
NM_152490.5(B3GALNT2):c.1486C>G (p.Arg496Gly)
|
|
|
NM_152490.5(B3GALNT2):c.1486C>T (p.Arg496Ter)
|
rs151155734
|
|
NM_152490.5(B3GALNT2):c.1487G>A (p.Arg496Gln)
|
rs111541487
|
|
NM_152490.5(B3GALNT2):c.150C>T (p.His50=)
|
rs774499951
|
|
NM_152490.5(B3GALNT2):c.155A>T (p.Asp52Val)
|
rs777105173
|
|
NM_152490.5(B3GALNT2):c.168C>T (p.Gly56=)
|
|
|
NM_152490.5(B3GALNT2):c.16G>A (p.Val6Met)
|
rs2102880612
|
|
NM_152490.5(B3GALNT2):c.177A>G (p.Ser59=)
|
rs2102863197
|
|
NM_152490.5(B3GALNT2):c.178G>C (p.Ala60Pro)
|
|
|
NM_152490.5(B3GALNT2):c.181C>T (p.Arg61Cys)
|
|
|
NM_152490.5(B3GALNT2):c.182G>A (p.Arg61His)
|
|
|
NM_152490.5(B3GALNT2):c.184A>G (p.Asn62Asp)
|
rs1352782835
|
|
NM_152490.5(B3GALNT2):c.185A>G (p.Asn62Ser)
|
|
|
NM_152490.5(B3GALNT2):c.192T>C (p.His64=)
|
|
|
NM_152490.5(B3GALNT2):c.199C>T (p.Arg67Ter)
|
rs760816239
|
|
NM_152490.5(B3GALNT2):c.204C>T (p.Asn68=)
|
rs1057182171
|
|
NM_152490.5(B3GALNT2):c.206T>G (p.Val69Gly)
|
|
|
NM_152490.5(B3GALNT2):c.210AAG[1] (p.Arg71del)
|
|
|
NM_152490.5(B3GALNT2):c.215G>A (p.Ser72Asn)
|
|
|
NM_152490.5(B3GALNT2):c.218C>G (p.Thr73Ser)
|
rs372008334
|
|
NM_152490.5(B3GALNT2):c.219C>T (p.Thr73=)
|
|
|
NM_152490.5(B3GALNT2):c.220T>G (p.Trp74Gly)
|
|
|
NM_152490.5(B3GALNT2):c.22C>G (p.Leu8Val)
|
rs1685731091
|
|
NM_152490.5(B3GALNT2):c.23T>G (p.Leu8Arg)
|
rs1437958242
|
|
NM_152490.5(B3GALNT2):c.245C>G (p.Pro82Arg)
|
|
|
NM_152490.5(B3GALNT2):c.257A>C (p.Gln86Pro)
|
|
|
NM_152490.5(B3GALNT2):c.259C>G (p.Arg87Gly)
|
rs747653180
|
|
NM_152490.5(B3GALNT2):c.259C>T (p.Arg87Cys)
|
|
|
NM_152490.5(B3GALNT2):c.260+11T>G
|
rs779108946
|
|
NM_152490.5(B3GALNT2):c.260+18T>C
|
|
|
NM_152490.5(B3GALNT2):c.261-7C>A
|
|
|
NM_152490.5(B3GALNT2):c.266T>C (p.Leu89Pro)
|
|
|
NM_152490.5(B3GALNT2):c.268G>T (p.Val90Leu)
|
rs371613038
|
|
NM_152490.5(B3GALNT2):c.27C>A (p.Cys9Ter)
|
rs1685730083
|
|
NM_152490.5(B3GALNT2):c.280A>G (p.Ile94Val)
|
|
|
NM_152490.5(B3GALNT2):c.290A>G (p.His97Arg)
|
|
|
NM_152490.5(B3GALNT2):c.29C>A (p.Pro10Gln)
|
|
|
NM_152490.5(B3GALNT2):c.305C>G (p.Pro102Arg)
|
|
|
NM_152490.5(B3GALNT2):c.308_309del (p.Val103fs)
|
rs367543070
|
|
NM_152490.5(B3GALNT2):c.30G>T (p.Pro10=)
|
|
|
NM_152490.5(B3GALNT2):c.310G>A (p.Glu104Lys)
|
|
|
NM_152490.5(B3GALNT2):c.322G>A (p.Asp108Asn)
|
rs920430546
|
|
NM_152490.5(B3GALNT2):c.335G>A (p.Cys112Tyr)
|
|
|
NM_152490.5(B3GALNT2):c.339A>G (p.Lys113=)
|
rs575352096
|
|
NM_152490.5(B3GALNT2):c.33T>G (p.Cys11Trp)
|
|
|
NM_152490.5(B3GALNT2):c.347A>G (p.Asn116Ser)
|
rs1572547857
|
|
NM_152490.5(B3GALNT2):c.355A>C (p.Asn119His)
|
|
|
NM_152490.5(B3GALNT2):c.356A>T (p.Asn119Ile)
|
|
|
NM_152490.5(B3GALNT2):c.361+20G>A
|
|
|
NM_152490.5(B3GALNT2):c.362-10C>T
|
|
|
NM_152490.5(B3GALNT2):c.362-12C>G
|
|
|
NM_152490.5(B3GALNT2):c.362-1G>C
|
rs2102844404
|
|
NM_152490.5(B3GALNT2):c.362-20A>G
|
|
|
NM_152490.5(B3GALNT2):c.362-5C>G
|
|
|
NM_152490.5(B3GALNT2):c.379G>A (p.Glu127Lys)
|
|
|
NM_152490.5(B3GALNT2):c.37C>T (p.Leu13Phe)
|
|
|
NM_152490.5(B3GALNT2):c.383C>T (p.Ala128Val)
|
rs1572539209
|
|
NM_152490.5(B3GALNT2):c.40G>C (p.Gly14Arg)
|
|
|
NM_152490.5(B3GALNT2):c.40_57del (p.Gly14_Leu19del)
|
|
|
NM_152490.5(B3GALNT2):c.419C>T (p.Pro140Leu)
|
|
|
NM_152490.5(B3GALNT2):c.41G>C (p.Gly14Ala)
|
rs2102880495
|
|
NM_152490.5(B3GALNT2):c.436A>C (p.Ser146Arg)
|
rs1684704587
|
|
NM_152490.5(B3GALNT2):c.438C>T (p.Ser146=)
|
|
|
NM_152490.5(B3GALNT2):c.439G>A (p.Val147Met)
|
rs143983025
|
|
NM_152490.5(B3GALNT2):c.439G>C (p.Val147Leu)
|
rs143983025
|
|
NM_152490.5(B3GALNT2):c.458A>G (p.Tyr153Cys)
|
rs757111780
|
|
NM_152490.5(B3GALNT2):c.458A>T (p.Tyr153Phe)
|
rs757111780
|
|
NM_152490.5(B3GALNT2):c.460C>G (p.Pro154Ala)
|
|
|
NM_152490.5(B3GALNT2):c.461C>T (p.Pro154Leu)
|
|
|
NM_152490.5(B3GALNT2):c.46G>A (p.Ala16Thr)
|
rs1685727749
|
|
NM_152490.5(B3GALNT2):c.475A>G (p.Ser159Gly)
|
|
|
NM_152490.5(B3GALNT2):c.476G>A (p.Ser159Asn)
|
|
|
NM_152490.5(B3GALNT2):c.479T>C (p.Leu160Pro)
|
rs2102843967
|
|
NM_152490.5(B3GALNT2):c.519G>A (p.Arg173=)
|
|
|
NM_152490.5(B3GALNT2):c.51G>T (p.Leu17=)
|
|
|
NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs)
|
rs367543069
|
|
NM_152490.5(B3GALNT2):c.538T>C (p.Tyr180His)
|
rs772253366
|
|
NM_152490.5(B3GALNT2):c.555+6C>T
|
|
|
NM_152490.5(B3GALNT2):c.555+7=
|
|
|
NM_152490.5(B3GALNT2):c.558G>A (p.Glu186=)
|
rs2102834901
|
|
NM_152490.5(B3GALNT2):c.564C>T (p.Leu188=)
|
rs1684490953
|
|
NM_152490.5(B3GALNT2):c.575G>T (p.Arg192Leu)
|
|
|
NM_152490.5(B3GALNT2):c.57C>T (p.Leu19=)
|
rs1572574971
|
|
NM_152490.5(B3GALNT2):c.588A>G (p.Pro196=)
|
rs773287935
|
|
NM_152490.5(B3GALNT2):c.59G>A (p.Trp20Ter)
|
rs2102880436
|
|
NM_152490.5(B3GALNT2):c.606G>T (p.Val202=)
|
rs2102834750
|
|
NM_152490.5(B3GALNT2):c.608A>G (p.Asn203Ser)
|
rs1684487405
|
|
NM_152490.5(B3GALNT2):c.620A>G (p.Tyr207Cys)
|
|
|
NM_152490.5(B3GALNT2):c.627C>T (p.Pro209=)
|
|
|
NM_152490.5(B3GALNT2):c.629T>G (p.Val210Gly)
|
rs754911016
|
|
NM_152490.5(B3GALNT2):c.636A>G (p.Gln212=)
|
|
|
NM_152490.5(B3GALNT2):c.63G>A (p.Leu21=)
|
rs2102880423
|
|
NM_152490.5(B3GALNT2):c.643T>G (p.Leu215Val)
|
rs2102834613
|
|
NM_152490.5(B3GALNT2):c.651+3A>G
|
|
|
NM_152490.5(B3GALNT2):c.651+5A>G
|
|
|
NM_152490.5(B3GALNT2):c.652-12T>C
|
rs2102815609
|
|
NM_152490.5(B3GALNT2):c.652-18T>A
|
|
|
NM_152490.5(B3GALNT2):c.652-1G>C
|
rs2102815577
|
|
NM_152490.5(B3GALNT2):c.652-2A>G
|
rs1553347936
|
|
NM_152490.5(B3GALNT2):c.652-4A>G
|
rs1683974448
|
|
NM_152490.5(B3GALNT2):c.658G>A (p.Glu220Lys)
|
rs766801682
|
|
NM_152490.5(B3GALNT2):c.669C>T (p.Ile223=)
|
|
|
NM_152490.5(B3GALNT2):c.670G>A (p.Val224Met)
|
|
|
NM_152490.5(B3GALNT2):c.690C>T (p.Leu230=)
|
|
|
NM_152490.5(B3GALNT2):c.691C>T (p.His231Tyr)
|
rs945312438
|
|
NM_152490.5(B3GALNT2):c.699del (p.Val234fs)
|
rs1572513308
|
|
NM_152490.5(B3GALNT2):c.701T>C (p.Val234Ala)
|
|
|
NM_152490.5(B3GALNT2):c.727G>C (p.Val243Leu)
|
rs755405777
|
|
NM_152490.5(B3GALNT2):c.72C>T (p.Arg24=)
|
|
|
NM_152490.5(B3GALNT2):c.730A>G (p.Asn244Asp)
|
|
|
NM_152490.5(B3GALNT2):c.734A>G (p.Asp245Gly)
|
rs1683966257
|
|
NM_152490.5(B3GALNT2):c.73T>C (p.Ser25Pro)
|
rs1685725563
|
|
NM_152490.5(B3GALNT2):c.744A>T (p.Gly248=)
|
|
|
NM_152490.5(B3GALNT2):c.748C>A (p.Leu250Ile)
|
rs1683965217
|
|
NM_152490.5(B3GALNT2):c.752G>C (p.Arg251Thr)
|
|
|
NM_152490.5(B3GALNT2):c.753del (p.Val252fs)
|
rs2102815215
|
|
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly)
|
rs367543073
|
|
NM_152490.5(B3GALNT2):c.756C>A (p.Val252=)
|
rs765281101
|
|
NM_152490.5(B3GALNT2):c.75C>T (p.Ser25=)
|
rs1244053981
|
|
NM_152490.5(B3GALNT2):c.762+12T>C
|
|
|
NM_152490.5(B3GALNT2):c.762+16_762+17dup
|
rs555883725
|
|
NM_152490.5(B3GALNT2):c.762+17del
|
rs555883725
|
|
NM_152490.5(B3GALNT2):c.762+8G>A
|
rs77267353
|
|
NM_152490.5(B3GALNT2):c.762+8G>T
|
rs77267353
|
|
NM_152490.5(B3GALNT2):c.762+9T>G
|
|
|
NM_152490.5(B3GALNT2):c.762+9dup
|
rs555883725
|
|
NM_152490.5(B3GALNT2):c.763-10T>C
|
rs747403347
|
|
NM_152490.5(B3GALNT2):c.763-1G>A
|
rs780433836
|
|
NM_152490.5(B3GALNT2):c.763-6T>C
|
|
|
NM_152490.5(B3GALNT2):c.770dup (p.Ala259fs)
|
rs1064793673
|
|
NM_152490.5(B3GALNT2):c.779T>A (p.Leu260Ter)
|
|
|
NM_152490.5(B3GALNT2):c.785A>C (p.His262Pro)
|
|
|
NM_152490.5(B3GALNT2):c.807G>A (p.Glu269=)
|
rs1436382802
|
|
NM_152490.5(B3GALNT2):c.815C>T (p.Ala272Val)
|
rs1558417340
|
|
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs)
|
rs367543075
|
|
NM_152490.5(B3GALNT2):c.835A>C (p.Ile279Leu)
|
rs1683655820
|
|
NM_152490.5(B3GALNT2):c.839A>T (p.Gln280Leu)
|
|
|
NM_152490.5(B3GALNT2):c.841+1G>T
|
|
|
NM_152490.5(B3GALNT2):c.842-1G>C
|
rs764784497
|
|
NM_152490.5(B3GALNT2):c.842-3T>C
|
rs1247622470
|
|
NM_152490.5(B3GALNT2):c.842-3T>G
|
rs1247622470
|
|
NM_152490.5(B3GALNT2):c.84C>T (p.Pro28=)
|
rs1572574900
|
|
NM_152490.5(B3GALNT2):c.85G>T (p.Ala29Ser)
|
|
|
NM_152490.5(B3GALNT2):c.861C>T (p.His287=)
|
|
|
NM_152490.5(B3GALNT2):c.863A>G (p.Asn288Ser)
|
rs2102790139
|
|
NM_152490.5(B3GALNT2):c.86C>A (p.Ala29Asp)
|
|
|
NM_152490.5(B3GALNT2):c.874C>T (p.Arg292Cys)
|
rs1683282264
|
|
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro)
|
rs367543076
|
|
NM_152490.5(B3GALNT2):c.882A>G (p.Gln294=)
|
rs2102790078
|
|
NM_152490.5(B3GALNT2):c.886C>T (p.Leu296Phe)
|
rs1683281659
|
|
NM_152490.5(B3GALNT2):c.895C>G (p.His299Asp)
|
rs1007114210
|
|
NM_152490.5(B3GALNT2):c.896A>G (p.His299Arg)
|
rs955249712
|
|
NM_152490.5(B3GALNT2):c.903dup (p.Asn302fs)
|
rs1469279569
|
|
NM_152490.5(B3GALNT2):c.905A>G (p.Asn302Ser)
|
|
|
NM_152490.5(B3GALNT2):c.907C>G (p.Leu303Val)
|
|
|
NM_152490.5(B3GALNT2):c.91G>A (p.Ala31Thr)
|
rs1685723778
|
|
NM_152490.5(B3GALNT2):c.922G>A (p.Ala308Thr)
|
|
|
NM_152490.5(B3GALNT2):c.936G>A (p.Glu312=)
|
rs554067980
|
|
NM_152490.5(B3GALNT2):c.947dup (p.Tyr317fs)
|
|
|
NM_152490.5(B3GALNT2):c.94_96del (p.Ser32del)
|
rs1169838120
|
|
NM_152490.5(B3GALNT2):c.951T>C (p.Tyr317=)
|
|
|
NM_152490.5(B3GALNT2):c.952GAT[1] (p.Asp319del)
|
|
|
NM_152490.5(B3GALNT2):c.974T>C (p.Val325Ala)
|
|
|
NM_152490.5(B3GALNT2):c.99G>A (p.Gly33=)
|
|
|
NM_153741.2(DPM3):c.104A>G (p.Gln35Arg)
|
|
|
NM_153741.2(DPM3):c.111C>T (p.Val37=)
|
rs2102491788
|
|
NM_153741.2(DPM3):c.11T>C (p.Leu4Ser)
|
|
|
NM_153741.2(DPM3):c.124C>G (p.Pro42Ala)
|
rs745692004
|
|
NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser)
|
rs1055439022
|
|
NM_153741.2(DPM3):c.179del (p.Arg60fs)
|
|
|
NM_153741.2(DPM3):c.184G>C (p.Ala62Pro)
|
rs2102491677
|
|
NM_153741.2(DPM3):c.185C>T (p.Ala62Val)
|
rs1553190791
|
|
NM_153741.2(DPM3):c.193C>T (p.His65Tyr)
|
|
|
NM_153741.2(DPM3):c.19T>C (p.Trp7Arg)
|
rs1664705696
|
|
NM_153741.2(DPM3):c.205del (p.Asp69fs)
|
|
|
NM_153741.2(DPM3):c.215G>A (p.Arg72His)
|
|
|
NM_153741.2(DPM3):c.21G>A (p.Trp7Ter)
|
rs1444066075
|
|
NM_153741.2(DPM3):c.21G>C (p.Trp7Cys)
|
|
|
NM_153741.2(DPM3):c.229C>T (p.Gln77Ter)
|
rs2102491600
|
|
NM_153741.2(DPM3):c.244C>T (p.Arg82Ter)
|
rs749000879
|
|
NM_153741.2(DPM3):c.254T>A (p.Leu85Ter)
|
rs121908155
|
|
NM_153741.2(DPM3):c.254T>C (p.Leu85Ser)
|
rs121908155
|
|
NM_153741.2(DPM3):c.257C>A (p.Ala86Asp)
|
rs752119871
|
|
NM_153741.2(DPM3):c.27G>A (p.Trp9Ter)
|
|
|
NM_153741.2(DPM3):c.28G>C (p.Gly10Arg)
|
rs367584459
|
|
NM_153741.2(DPM3):c.29G>A (p.Gly10Glu)
|
rs2102491894
|
|
NM_153741.2(DPM3):c.39C>T (p.Ile13=)
|
|
|
NM_153741.2(DPM3):c.42G>A (p.Leu14=)
|
|
|
NM_153741.2(DPM3):c.44G>T (p.Gly15Val)
|
rs372215837
|
|
NM_153741.2(DPM3):c.48C>T (p.Ser16=)
|
rs753265590
|
|
NM_153741.2(DPM3):c.59C>T (p.Ala20Val)
|
|
|
NM_153741.2(DPM3):c.5del (p.Thr2fs)
|
|
|
NM_153741.2(DPM3):c.6G>A (p.Thr2=)
|
|
|
NM_153741.2(DPM3):c.81C>T (p.Gly27=)
|
|
|
NM_153741.2(DPM3):c.95T>C (p.Leu32Ser)
|
rs959102245
|
|
NM_170707.4(LMNA):c.-142C>A
|
rs886045358
|
|
NM_170707.4(LMNA):c.-183C>A
|
rs886045357
|
|
NM_170707.4(LMNA):c.-5C>A
|
rs886045362
|
|
NM_170707.4(LMNA):c.-62C>A
|
rs886045361
|
|
NM_170707.4(LMNA):c.-88G>T
|
rs115800510
|
|
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)
|
rs1237093879
|
|
NM_170707.4(LMNA):c.104T>A (p.Leu35Gln)
|
|
|
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)
|
rs60458016
|
|
NM_170707.4(LMNA):c.108G>T (p.Gln36His)
|
rs2102817523
|
|
NM_170707.4(LMNA):c.112C>T (p.Leu38Phe)
|
rs2102817550
|
|
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser)
|
rs121912495
|
|
NM_170707.4(LMNA):c.113T>A (p.Leu38His)
|
rs1558116084
|
|
NM_170707.4(LMNA):c.1147G>A (p.Glu383Lys)
|
rs1651580090
|
|
NM_170707.4(LMNA):c.117T>G (p.Asn39Lys)
|
|
|
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
|
|
|
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp)
|
rs267607647
|
|
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp)
|
rs966050612
|
|
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys)
|
rs766811975
|
|
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn)
|
rs1385994420
|
|
NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg)
|
rs1651629254
|
|
NM_170707.4(LMNA):c.130G>T (p.Val44Phe)
|
rs1057518971
|
|
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)
|
rs505058
|
|
NM_170707.4(LMNA):c.133T>C (p.Tyr45His)
|
rs1649714371
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_170707.4(LMNA):c.1380+1G>A
|
rs267607552
|
|
NM_170707.4(LMNA):c.1381-2A>G
|
rs267607600
|
|
NM_170707.4(LMNA):c.1381-6C>G
|
rs371635492
|
|
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys)
|
rs1281896947
|
|
NM_170707.4(LMNA):c.139G>A (p.Asp47Asn)
|
rs267607608
|
|
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)
|
rs11575937
|
|
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala)
|
rs886042993
|
|
NM_170707.4(LMNA):c.145G>T (p.Val49Leu)
|
|
|
NM_170707.4(LMNA):c.1485G>A (p.Val495=)
|
rs1651703234
|
|
NM_170707.4(LMNA):c.148C>T (p.Arg50Cys)
|
rs59931416
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)
|
rs1572366516
|
|
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)
|
rs57629361
|
|
NM_170707.4(LMNA):c.1608+1G>A
|
rs267607592
|
|
NM_170707.4(LMNA):c.161C>T (p.Thr54Met)
|
rs879253992
|
|
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)
|
rs2102898301
|
|
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala)
|
rs1651785654
|
|
NM_170707.4(LMNA):c.1659C>T (p.Asp553=)
|
rs748768783
|
|
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)
|
rs2102817952
|
|
NM_170707.4(LMNA):c.1698+124C>T
|
rs1057516022
|
|
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)
|
rs57830985
|
|
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro)
|
rs1553266553
|
|
NM_170707.4(LMNA):c.1968+18dup
|
rs554157057
|
|
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg)
|
rs1023544978
|
|
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln)
|
rs59270054
|
|
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu)
|
rs1445068583
|
|
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile)
|
rs1306829976
|
|
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser)
|
rs1553262000
|
|
NM_170707.4(LMNA):c.326T>A (p.Val109Glu)
|
rs1649740041
|
|
NM_170707.4(LMNA):c.356+12C>A
|
rs1649747809
|
|
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu)
|
rs397517902
|
|
NM_170707.4(LMNA):c.428C>T (p.Ser143Phe)
|
rs58912633
|
|
NM_170707.4(LMNA):c.470delinsGCTGGA (p.Thr157fs)
|
|
|
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp)
|
rs770799870
|
|
NM_170707.4(LMNA):c.483G>A (p.Glu161=)
|
rs1553264647
|
|
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu)
|
rs1650991296
|
|
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)
|
rs1553261858
|
|
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)
|
rs61195471
|
|
NM_170707.4(LMNA):c.610C>G (p.Leu204Val)
|
rs1553265177
|
|
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly)
|
rs773349450
|
|
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)
|
rs267607609
|
|
NM_170707.4(LMNA):c.703C>A (p.Arg235Ser)
|
rs201227908
|
|
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)
|
rs121912496
|
|
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn)
|
rs1553265346
|
|
NM_170707.4(LMNA):c.762C>A (p.Asp254Glu)
|
rs1558129629
|
|
NM_170707.4(LMNA):c.787C>A (p.Leu263Met)
|
rs750246389
|
|
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)
|
rs1651418246
|
|
NM_170707.4(LMNA):c.80C>T (p.Thr27Ile)
|
rs863225270
|
|
NM_170707.4(LMNA):c.810+1G>C
|
rs267607632
|
|
NM_170707.4(LMNA):c.812T>G (p.Leu271Arg)
|
|
|
NM_170707.4(LMNA):c.822del (p.Arg275fs)
|
rs2102883169
|
|
NM_170707.4(LMNA):c.851T>C (p.Leu284Pro)
|
rs886043260
|
|
NM_170707.4(LMNA):c.853G>T (p.Val285Leu)
|
rs746056534
|
|
NM_170707.4(LMNA):c.878A>T (p.Gln293Leu)
|
rs1651454980
|
|
NM_170707.4(LMNA):c.893G>T (p.Arg298Leu)
|
rs762653476
|
|
NM_170707.4(LMNA):c.89A>C (p.Gln30Pro)
|
|
|
NM_170707.4(LMNA):c.91_93del (p.Glu31del)
|
rs864309525
|
|
NM_170707.4(LMNA):c.91del (p.Glu31fs)
|
|
|
NM_170707.4(LMNA):c.927C>A (p.Leu309=)
|
rs752558753
|
|
NM_170707.4(LMNA):c.937-22_937-10del
|
rs886043199
|
|
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr)
|
rs769498020
|
|
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)
|
rs1553261891
|
|
NM_170707.4(LMNA):c.94_96del (p.Lys32del)
|
rs60872029
|
|
NM_170707.4(LMNA):c.95A>C (p.Lys32Thr)
|
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)
|
rs775159300
|
|
NM_173660.4(DOK7):c.[1263delC];[1263dupC]
|
|
|
NM_173660.5(DOK7):c.100+11C>G
|
|
|
NM_173660.5(DOK7):c.100+11C>T
|
|
|
NM_173660.5(DOK7):c.100+12G>A
|
|
|
NM_173660.5(DOK7):c.100+14G>C
|
|
|
NM_173660.5(DOK7):c.100+15C>A
|
|
|
NM_173660.5(DOK7):c.100+17G>A
|
|
|
NM_173660.5(DOK7):c.100+21_100+36del
|
|
|
NM_173660.5(DOK7):c.1001G>A (p.Ser334Asn)
|
rs1467473001
|
|
NM_173660.5(DOK7):c.1001_1011dup (p.Ser338fs)
|
|
|
NM_173660.5(DOK7):c.1008G>C (p.Ser336=)
|
|
|
NM_173660.5(DOK7):c.1008G>T (p.Ser336=)
|
|
|
NM_173660.5(DOK7):c.1009G>A (p.Asp337Asn)
|
rs2109418165
|
|
NM_173660.5(DOK7):c.101-12C>T
|
|
|
NM_173660.5(DOK7):c.101-15C>T
|
|
|
NM_173660.5(DOK7):c.101-17G>A
|
|
|
NM_173660.5(DOK7):c.101-18C>T
|
|
|
NM_173660.5(DOK7):c.101-20G>A
|
|
|
NM_173660.5(DOK7):c.101-8C>G
|
|
|
NM_173660.5(DOK7):c.1016G>C (p.Gly339Ala)
|
rs1728608485
|
|
NM_173660.5(DOK7):c.1017C>A (p.Gly339=)
|
|
|
NM_173660.5(DOK7):c.1017C>T (p.Gly339=)
|
|
|
NM_173660.5(DOK7):c.1018A>G (p.Ile340Val)
|
|
|
NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs)
|
rs1553850100
|
|
NM_173660.5(DOK7):c.1026T>G (p.Thr342=)
|
rs1437244628
|
|
NM_173660.5(DOK7):c.1030A>G (p.Ser344Gly)
|
rs2109418322
|
|
NM_173660.5(DOK7):c.1033C>T (p.His345Tyr)
|
|
|
NM_173660.5(DOK7):c.1034A>G (p.His345Arg)
|
rs1577182623
|
|
NM_173660.5(DOK7):c.1035C>T (p.His345=)
|
|
|
NM_173660.5(DOK7):c.1037C>G (p.Ser346Cys)
|
rs568530359
|
|
NM_173660.5(DOK7):c.1038C>A (p.Ser346=)
|
|
|
NM_173660.5(DOK7):c.1038C>T (p.Ser346=)
|
|
|
NM_173660.5(DOK7):c.1040_1041del (p.Ser347fs)
|
|
|
NM_173660.5(DOK7):c.1047C>T (p.Ser349=)
|
|
|
NM_173660.5(DOK7):c.1049G>A (p.Ser350Asn)
|
rs1728615373
|
|
NM_173660.5(DOK7):c.1050C>G (p.Ser350Arg)
|
rs2109418499
|
|
NM_173660.5(DOK7):c.1054C>G (p.Leu352Val)
|
rs1037224921
|
|
NM_173660.5(DOK7):c.1059G>C (p.Ser353=)
|
|
|
NM_173660.5(DOK7):c.1062C>G (p.Ser354=)
|
|
|
NM_173660.5(DOK7):c.1066G>C (p.Ala356Pro)
|
|
|
NM_173660.5(DOK7):c.1067C>A (p.Ala356Glu)
|
rs368512847
|
|
NM_173660.5(DOK7):c.1067C>T (p.Ala356Val)
|
rs368512847
|
|
NM_173660.5(DOK7):c.1068G>A (p.Ala356=)
|
|
|
NM_173660.5(DOK7):c.1068G>C (p.Ala356=)
|
|
|
NM_173660.5(DOK7):c.1068G>T (p.Ala356=)
|
rs372407972
|
|
NM_173660.5(DOK7):c.1074_1306dup (p.Gly436fs)
|
rs1560232833
|
|
NM_173660.5(DOK7):c.1080G>T (p.Leu360=)
|
rs2109418743
|
|
NM_173660.5(DOK7):c.1083C>G (p.Asp361Glu)
|
|
|
NM_173660.5(DOK7):c.1088G>T (p.Trp363Leu)
|
rs763666945
|
|
NM_173660.5(DOK7):c.1091G>T (p.Arg364Leu)
|
rs201304841
|
|
NM_173660.5(DOK7):c.1109G>C (p.Gly370Ala)
|
rs1728624628
|
|
NM_173660.5(DOK7):c.111G>A (p.Leu37=)
|
rs2109335875
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.1125G>C (p.Leu375=)
|
|
|
NM_173660.5(DOK7):c.1128A>C (p.Pro376=)
|
|
|
NM_173660.5(DOK7):c.1131A>G (p.Ala377=)
|
|
|
NM_173660.5(DOK7):c.1134G>C (p.Ala378=)
|
|
|
NM_173660.5(DOK7):c.1137G>A (p.Gly379=)
|
|
|
NM_173660.5(DOK7):c.1138dup (p.Ala380fs)
|
rs761899995
|
|
NM_173660.5(DOK7):c.1139C>A (p.Ala380Asp)
|
rs766061571
|
|
NM_173660.5(DOK7):c.1139C>G (p.Ala380Gly)
|
rs766061571
|
|
NM_173660.5(DOK7):c.1139C>T (p.Ala380Val)
|
rs766061571
|
|
NM_173660.5(DOK7):c.1140C>T (p.Ala380=)
|
|
|
NM_173660.5(DOK7):c.1143del (p.Glu382fs)
|
rs606231132
|
|
NM_173660.5(DOK7):c.1143dup (p.Glu382fs)
|
rs606231132
|
|
NM_173660.5(DOK7):c.1145A>C (p.Glu382Ala)
|
rs1728631866
|
|
NM_173660.5(DOK7):c.1145_1171del (p.Glu382_Pro390del)
|
|
|
NM_173660.5(DOK7):c.1146G>A (p.Glu382=)
|
|
|
NM_173660.5(DOK7):c.1149C>T (p.Pro383=)
|
|
|
NM_173660.5(DOK7):c.1151G>A (p.Ser384Asn)
|
rs1728632467
|
|
NM_173660.5(DOK7):c.1153_1166delinsAGGGGCCCCCGA (p.Leu385fs)
|
|
|
NM_173660.5(DOK7):c.1154T>C (p.Leu385Pro)
|
rs1728632885
|
|
NM_173660.5(DOK7):c.1155G>A (p.Leu385=)
|
|
|
NM_173660.5(DOK7):c.1161C>G (p.Thr387=)
|
|
|
NM_173660.5(DOK7):c.1165C>T (p.Leu389=)
|
|
|
NM_173660.5(DOK7):c.1166_1169del (p.Leu389fs)
|
rs1728633687
|
|
NM_173660.5(DOK7):c.1168C>A (p.Pro390Thr)
|
rs149525610
|
|
NM_173660.5(DOK7):c.1168C>T (p.Pro390Ser)
|
rs149525610
|
|
NM_173660.5(DOK7):c.1171G>T (p.Gly391Trp)
|
|
|
NM_173660.5(DOK7):c.1172G>A (p.Gly391Glu)
|
rs753513427
|
|
NM_173660.5(DOK7):c.1173G>C (p.Gly391=)
|
|
|
NM_173660.5(DOK7):c.1176A>T (p.Thr392=)
|
|
|
NM_173660.5(DOK7):c.1179C>G (p.Val393=)
|
rs138797230
|
|
NM_173660.5(DOK7):c.1179C>T (p.Val393=)
|
rs138797230
|
|
NM_173660.5(DOK7):c.117G>A (p.Leu39=)
|
|
|
NM_173660.5(DOK7):c.1188G>A (p.Gln396=)
|
rs1577183241
|
|
NM_173660.5(DOK7):c.1191G>A (p.Val397=)
|
|
|
NM_173660.5(DOK7):c.1194C>T (p.Pro398=)
|
|
|
NM_173660.5(DOK7):c.1203G>C (p.Leu401=)
|
|
|
NM_173660.5(DOK7):c.1205G>C (p.Arg402Pro)
|
rs370039804
|
|
NM_173660.5(DOK7):c.1208C>G (p.Ala403Gly)
|
|
|
NM_173660.5(DOK7):c.1211A>G (p.His404Arg)
|
|
|
NM_173660.5(DOK7):c.1215T>C (p.Tyr405=)
|
|
|
NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter)
|
rs544278158
|
|
NM_173660.5(DOK7):c.1218C>T (p.Asp406=)
|
|
|
NM_173660.5(DOK7):c.1227C>A (p.Arg409=)
|
rs762828158
|
|
NM_173660.5(DOK7):c.1228A>C (p.Ser410Arg)
|
rs547633164
|
|
NM_173660.5(DOK7):c.1230C>T (p.Ser410=)
|
|
|
NM_173660.5(DOK7):c.1236C>A (p.Cys412Ter)
|
|
|
NM_173660.5(DOK7):c.1236C>T (p.Cys412=)
|
rs556834250
|
|
NM_173660.5(DOK7):c.1237C>T (p.Leu413=)
|
|
|
NM_173660.5(DOK7):c.1239G>A (p.Leu413=)
|
|
|
NM_173660.5(DOK7):c.1242T>G (p.Ala414=)
|
|
|
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
|
|
|
NM_173660.5(DOK7):c.1251C>T (p.Asp417=)
|
|
|
NM_173660.5(DOK7):c.1255A>C (p.Ser419Arg)
|
rs2109420373
|
|
NM_173660.5(DOK7):c.1257C>T (p.Ser419=)
|
|
|
NM_173660.5(DOK7):c.1257_1269del (p.Ser419fs)
|
|
|
NM_173660.5(DOK7):c.1258C>A (p.Pro420Thr)
|
rs150497723
|
|
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser)
|
rs150497723
|
|
NM_173660.5(DOK7):c.1260C>A (p.Pro420=)
|
|
|
NM_173660.5(DOK7):c.1262C>G (p.Pro421Arg)
|
|
|
NM_173660.5(DOK7):c.1262C>T (p.Pro421Leu)
|
|
|
NM_173660.5(DOK7):c.1263C>A (p.Pro421=)
|
rs761693255
|
|
NM_173660.5(DOK7):c.1263C>G (p.Pro421=)
|
|
|
NM_173660.5(DOK7):c.1263C>T (p.Pro421=)
|
rs761693255
|
|
NM_173660.5(DOK7):c.1263del (p.Ser422fs)
|
rs606231129
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
NM_173660.5(DOK7):c.1264del (p.Ser422fs)
|
rs1258346283
|
|
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter)
|
rs1728650830
|
|
NM_173660.5(DOK7):c.1269G>A (p.Gln423=)
|
rs1247286969
|
|
NM_173660.5(DOK7):c.1271_1280dup (p.Asn428fs)
|
|
|
NM_173660.5(DOK7):c.1272C>T (p.Gly424=)
|
rs1728651445
|
|
NM_173660.5(DOK7):c.1275C>T (p.Ser425=)
|
|
|
NM_173660.5(DOK7):c.1277C>T (p.Pro426Leu)
|
|
|
NM_173660.5(DOK7):c.1278C>G (p.Pro426=)
|
rs139468087
|
|
NM_173660.5(DOK7):c.1279G>C (p.Gly427Arg)
|
rs377555406
|
|
NM_173660.5(DOK7):c.1285A>G (p.Ser429Gly)
|
|
|
NM_173660.5(DOK7):c.1287T>C (p.Ser429=)
|
rs1255756275
|
|
NM_173660.5(DOK7):c.1289C>G (p.Ala430Gly)
|
|
|
NM_173660.5(DOK7):c.1296G>A (p.Arg432=)
|
rs1288310207
|
|
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs)
|
rs778172294
|
|
NM_173660.5(DOK7):c.1296_1311dup (p.Thr438fs)
|
|
|
NM_173660.5(DOK7):c.129C>T (p.Asp43=)
|
|
|
NM_173660.5(DOK7):c.1305C>A (p.Gly435=)
|
rs201894731
|
|
NM_173660.5(DOK7):c.1305C>G (p.Gly435=)
|
rs201894731
|
|
NM_173660.5(DOK7):c.1305C>T (p.Gly435=)
|
rs201894731
|
|
NM_173660.5(DOK7):c.1306G>A (p.Gly436Ser)
|
rs201392182
|
|
NM_173660.5(DOK7):c.1306G>C (p.Gly436Arg)
|
rs201392182
|
|
NM_173660.5(DOK7):c.1307G>A (p.Gly436Asp)
|
rs1458938692
|
|
NM_173660.5(DOK7):c.1308C>T (p.Gly436=)
|
|
|
NM_173660.5(DOK7):c.1310_1320del (p.Gln437fs)
|
|
|
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg)
|
rs376805794
|
|
NM_173660.5(DOK7):c.1313C>T (p.Thr438Met)
|
rs376805794
|
|
NM_173660.5(DOK7):c.1317C>G (p.Ser439=)
|
|
|
NM_173660.5(DOK7):c.1318G>T (p.Ala440Ser)
|
rs753026831
|
|
NM_173660.5(DOK7):c.1321G>A (p.Gly441Arg)
|
rs778266118
|
|
NM_173660.5(DOK7):c.1323G>A (p.Gly441=)
|
rs755615582
|
|
NM_173660.5(DOK7):c.1323del (p.Cys442fs)
|
rs1210035894
|
|
NM_173660.5(DOK7):c.1323dup (p.Cys442fs)
|
|
|
NM_173660.5(DOK7):c.1324_1357del (p.Cys442fs)
|
|
|
NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser)
|
rs748946433
|
|
NM_173660.5(DOK7):c.1329C>G (p.Pro443=)
|
rs768213796
|
|
NM_173660.5(DOK7):c.1329C>T (p.Pro443=)
|
|
|
NM_173660.5(DOK7):c.1332T>G (p.Ser444=)
|
|
|
NM_173660.5(DOK7):c.1335C>T (p.Gly445=)
|
|
|
NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
|
|
|
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs)
|
rs606231131
|
|
NM_173660.5(DOK7):c.1340_1354del (p.Leu447_Arg451del)
|
rs779508279
|
|
NM_173660.5(DOK7):c.1347G>C (p.Thr449=)
|
|
|
NM_173660.5(DOK7):c.1347G>T (p.Thr449=)
|
|
|
NM_173660.5(DOK7):c.1348del (p.Arg450fs)
|
|
|
NM_173660.5(DOK7):c.1356G>C (p.Arg452=)
|
rs1728663876
|
|
NM_173660.5(DOK7):c.1358dup (p.Leu454fs)
|
rs775544277
|
|
NM_173660.5(DOK7):c.1359C>T (p.Gly453=)
|
|
|
NM_173660.5(DOK7):c.135G>A (p.Ser45=)
|
|
|
NM_173660.5(DOK7):c.135G>C (p.Ser45=)
|
|
|
NM_173660.5(DOK7):c.1361_1374del (p.Leu454fs)
|
|
|
NM_173660.5(DOK7):c.1363G>A (p.Val455Met)
|
rs765823074
|
|
NM_173660.5(DOK7):c.1367dup (p.Met456fs)
|
|
|
NM_173660.5(DOK7):c.1368_1385del (p.Met456_Ser462delinsIle)
|
rs1728665309
|
|
NM_173660.5(DOK7):c.1371G>T (p.Glu457Asp)
|
rs1455617490
|
|
NM_173660.5(DOK7):c.1372dup (p.Ala458fs)
|
|
|
NM_173660.5(DOK7):c.1374C>T (p.Ala458=)
|
|
|
NM_173660.5(DOK7):c.1378C>T (p.Gln460Ter)
|
|
|
NM_173660.5(DOK7):c.1378del (p.Gln460fs)
|
|
|
NM_173660.5(DOK7):c.1378dup (p.Gln460fs)
|
rs606231133
|
|
NM_173660.5(DOK7):c.1380G>A (p.Gln460=)
|
|
|
NM_173660.5(DOK7):c.1387G>C (p.Glu463Gln)
|
rs745941308
|
|
NM_173660.5(DOK7):c.1387G>T (p.Glu463Ter)
|
rs745941308
|
|
NM_173660.5(DOK7):c.138_149del (p.Glu46_Gly50delinsAsp)
|
rs1577148448
|
|
NM_173660.5(DOK7):c.1395A>G (p.Thr465=)
|
|
|
NM_173660.5(DOK7):c.1396C>T (p.Leu466=)
|
|
|
NM_173660.5(DOK7):c.139C>T (p.Arg47Cys)
|
rs781665230
|
|
NM_173660.5(DOK7):c.1403_1408del (p.Gly468_Pro469del)
|
rs762148551
|
|
NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup)
|
rs762148551
|
|
NM_173660.5(DOK7):c.1404C>A (p.Gly468=)
|
|
|
NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs)
|
rs1728671600
|
|
NM_173660.5(DOK7):c.1410C>T (p.Ala470=)
|
|
|
NM_173660.5(DOK7):c.1416C>T (p.Gly472=)
|
rs769793776
|
|
NM_173660.5(DOK7):c.141T>C (p.Arg47=)
|
|
|
NM_173660.5(DOK7):c.1428A>G (p.Glu476=)
|
|
|
NM_173660.5(DOK7):c.1433G>A (p.Gly478Asp)
|
rs2109422552
|
|
NM_173660.5(DOK7):c.1435G>C (p.Gly479Arg)
|
rs140519765
|
|
NM_173660.5(DOK7):c.143T>C (p.Ile48Thr)
|
|
|
NM_173660.5(DOK7):c.1440C>G (p.Pro480=)
|
|
|
NM_173660.5(DOK7):c.1441dup (p.His481fs)
|
rs1168106708
|
|
NM_173660.5(DOK7):c.1444G>T (p.Ala482Ser)
|
|
|
NM_173660.5(DOK7):c.1445C>A (p.Ala482Glu)
|
rs767980190
|
|
NM_173660.5(DOK7):c.1445C>T (p.Ala482Val)
|
rs767980190
|
|
NM_173660.5(DOK7):c.1457del (p.Pro486fs)
|
rs1577184455
|
|
NM_173660.5(DOK7):c.1458G>T (p.Pro486=)
|
rs763843300
|
|
NM_173660.5(DOK7):c.1459G>A (p.Ala487Thr)
|
rs751342277
|
|
NM_173660.5(DOK7):c.1459G>C (p.Ala487Pro)
|
rs751342277
|
|
NM_173660.5(DOK7):c.1467T>C (p.Phe489=)
|
|
|
NM_173660.5(DOK7):c.1469C>G (p.Ser490Trp)
|
rs77513082
|
|
NM_173660.5(DOK7):c.1470G>T (p.Ser490=)
|
|
|
NM_173660.5(DOK7):c.1473A>G (p.Ala491=)
|
|
|
NM_173660.5(DOK7):c.1476T>G (p.Cys492Trp)
|
rs768805841
|
|
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs)
|
rs797045040
|
|
NM_173660.5(DOK7):c.147G>A (p.Lys49=)
|
|
|
NM_173660.5(DOK7):c.1482C>A (p.Val494=)
|
|
|
NM_173660.5(DOK7):c.1487G>C (p.Gly496Ala)
|
rs373205256
|
|
NM_173660.5(DOK7):c.1487G>T (p.Gly496Val)
|
rs373205256
|
|
NM_173660.5(DOK7):c.1489G>C (p.Gly497Arg)
|
rs751223916
|
|
NM_173660.5(DOK7):c.1497G>A (p.Lys499=)
|
|
|
NM_173660.5(DOK7):c.1497G>T (p.Lys499Asn)
|
rs1560234858
|
|
NM_173660.5(DOK7):c.1498G>A (p.Val500Ile)
|
rs1041024260
|
|
NM_173660.5(DOK7):c.1503C>T (p.Asn501=)
|
|
|
NM_173660.5(DOK7):c.1504C>T (p.Pro502Ser)
|
rs779975668
|
|
NM_173660.5(DOK7):c.1506C>G (p.Pro502=)
|
|
|
NM_173660.5(DOK7):c.1508dup (p.Pro504fs)
|
rs773220689
|
|
NM_173660.5(DOK7):c.1510C>A (p.Pro504Thr)
|
rs1560234920
|
|
NM_173660.5(DOK7):c.1514G>A (p.Ter505=)
|
|
|
NM_173660.5(DOK7):c.1515A>G (p.Ter505Trp)
|
rs1553850437
|
|
NM_173660.5(DOK7):c.159G>A (p.Glu53=)
|
rs1008787863
|
|
NM_173660.5(DOK7):c.161G>A (p.Arg54His)
|
rs201818140
|
|
NM_173660.5(DOK7):c.161G>T (p.Arg54Leu)
|
rs201818140
|
|
NM_173660.5(DOK7):c.163A>G (p.Ser55Gly)
|
rs550137245
|
|
NM_173660.5(DOK7):c.163A>T (p.Ser55Cys)
|
rs550137245
|
|
NM_173660.5(DOK7):c.168C>T (p.Ser56=)
|
rs2109336068
|
|
NM_173660.5(DOK7):c.173C>T (p.Thr58Met)
|
|
|
NM_173660.5(DOK7):c.174G>A (p.Thr58=)
|
|
|
NM_173660.5(DOK7):c.176T>C (p.Leu59Pro)
|
|
|
NM_173660.5(DOK7):c.177A>G (p.Leu59=)
|
|
|
NM_173660.5(DOK7):c.185T>A (p.Ile62Asn)
|
|
|
NM_173660.5(DOK7):c.186C>A (p.Ile62=)
|
|
|
NM_173660.5(DOK7):c.190G>C (p.Gly64Arg)
|
|
|
NM_173660.5(DOK7):c.199C>T (p.Pro67Ser)
|
rs1553846331
|
|
NM_173660.5(DOK7):c.210C>G (p.Pro70=)
|
|
|
NM_173660.5(DOK7):c.212A>T (p.Tyr71Phe)
|
rs771583740
|
|
NM_173660.5(DOK7):c.220= (p.Leu74=)
|
rs4325970
|
|
NM_173660.5(DOK7):c.230C>A (p.Thr77Lys)
|
rs940346413
|
|
NM_173660.5(DOK7):c.230C>G (p.Thr77Arg)
|
|
|
NM_173660.5(DOK7):c.230C>T (p.Thr77Met)
|
rs940346413
|
|
NM_173660.5(DOK7):c.231G>A (p.Thr77=)
|
|
|
NM_173660.5(DOK7):c.237C>T (p.Ala79=)
|
|
|
NM_173660.5(DOK7):c.241G>C (p.Val81Leu)
|
rs763046127
|
|
NM_173660.5(DOK7):c.252C>A (p.Ser84=)
|
|
|
NM_173660.5(DOK7):c.252C>G (p.Ser84=)
|
|
|
NM_173660.5(DOK7):c.252C>T (p.Ser84=)
|
|
|
NM_173660.5(DOK7):c.264G>T (p.Met88Ile)
|
rs1244768842
|
|
NM_173660.5(DOK7):c.27C>A (p.Gly9=)
|
rs768798756
|
|
NM_173660.5(DOK7):c.27C>T (p.Gly9=)
|
|
|
NM_173660.5(DOK7):c.288C>T (p.Ala96=)
|
rs890259305
|
|
NM_173660.5(DOK7):c.289A>G (p.Met97Val)
|
rs2109336403
|
|
NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)
|
|
|
NM_173660.5(DOK7):c.28del (p.Gln10fs)
|
rs1560200925
|
|
NM_173660.5(DOK7):c.292T>A (p.Cys98Ser)
|
rs1726898976
|
|
NM_173660.5(DOK7):c.294T>C (p.Cys98=)
|
|
|
NM_173660.5(DOK7):c.297G>T (p.Ala99=)
|
|
|
NM_173660.5(DOK7):c.298dup (p.Trp100fs)
|
|
|
NM_173660.5(DOK7):c.299G>A (p.Trp100Ter)
|
rs2109336441
|
|
NM_173660.5(DOK7):c.309G>A (p.Arg103=)
|
|
|
NM_173660.5(DOK7):c.30G>A (p.Gln10=)
|
rs1341926638
|
|
NM_173660.5(DOK7):c.317A>G (p.Tyr106Cys)
|
|
|
NM_173660.5(DOK7):c.31G>C (p.Val11Leu)
|
|
|
NM_173660.5(DOK7):c.324C>T (p.Leu108=)
|
|
|
NM_173660.5(DOK7):c.325G>A (p.Gly109Ser)
|
rs762952740
|
|
NM_173660.5(DOK7):c.331+10G>A
|
|
|
NM_173660.5(DOK7):c.331+11GGGGCC[3]
|
rs745546967
|
|
NM_173660.5(DOK7):c.331+14G>T
|
|
|
NM_173660.5(DOK7):c.331+15C>G
|
|
|
NM_173660.5(DOK7):c.331+15_331+16del
|
|
|
NM_173660.5(DOK7):c.331+17G>A
|
|
|
NM_173660.5(DOK7):c.331+18G>A
|
|
|
NM_173660.5(DOK7):c.331+20_331+25del
|
|
|
NM_173660.5(DOK7):c.331+4_331+5del
|
rs2109336551
|
|
NM_173660.5(DOK7):c.331+7G>A
|
|
|
NM_173660.5(DOK7):c.332-107_332-4del
|
rs1727060359
|
|
NM_173660.5(DOK7):c.332-12G>A
|
|
|
NM_173660.5(DOK7):c.332-12G>C
|
|
|
NM_173660.5(DOK7):c.332-15C>T
|
|
|
NM_173660.5(DOK7):c.332-17G>A
|
|
|
NM_173660.5(DOK7):c.332-18T>A
|
|
|
NM_173660.5(DOK7):c.332-1G>A
|
rs1490214819
|
|
NM_173660.5(DOK7):c.332-1G>C
|
|
|
NM_173660.5(DOK7):c.332-1G>T
|
rs1490214819
|
|
NM_173660.5(DOK7):c.332-2A>G
|
|
|
NM_173660.5(DOK7):c.332-4G>C
|
|
|
NM_173660.5(DOK7):c.332-7C>A
|
|
|
NM_173660.5(DOK7):c.332-95_332-18del
|
|
|
NM_173660.5(DOK7):c.332-9_332-8insTGCCCC
|
|
|
NM_173660.5(DOK7):c.333G>A (p.Val111=)
|
rs1197491516
|
|
NM_173660.5(DOK7):c.336T>C (p.His112=)
|
|
|
NM_173660.5(DOK7):c.339G>A (p.Arg113=)
|
|
|
NM_173660.5(DOK7):c.355G>A (p.Ala119Thr)
|
rs951094929
|
|
NM_173660.5(DOK7):c.363C>T (p.Gly121=)
|
rs1427150506
|
|
NM_173660.5(DOK7):c.364A>T (p.Thr122Ser)
|
|
|
NM_173660.5(DOK7):c.366C>G (p.Thr122=)
|
rs1365607498
|
|
NM_173660.5(DOK7):c.36G>A (p.Lys12=)
|
|
|
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)
|
|
|
NM_173660.5(DOK7):c.381C>T (p.Gly127=)
|
|
|
NM_173660.5(DOK7):c.383C>G (p.Pro128Arg)
|
|
|
NM_173660.5(DOK7):c.384G>A (p.Pro128=)
|
|
|
NM_173660.5(DOK7):c.390C>G (p.Thr130=)
|
|
|
NM_173660.5(DOK7):c.390C>T (p.Thr130=)
|
|
|
NM_173660.5(DOK7):c.394C>A (p.His132Asn)
|
rs755692930
|
|
NM_173660.5(DOK7):c.396C>G (p.His132Gln)
|
rs779798129
|
|
NM_173660.5(DOK7):c.399C>G (p.Leu133=)
|
|
|
NM_173660.5(DOK7):c.399C>T (p.Leu133=)
|
rs2109343497
|
|
NM_173660.5(DOK7):c.411C>A (p.Val137=)
|
|
|
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
|
|
|
NM_173660.5(DOK7):c.415G>C (p.Val139Leu)
|
rs571769859
|
|
NM_173660.5(DOK7):c.429del (p.Asp143fs)
|
|
|
NM_173660.5(DOK7):c.42G>A (p.Arg14=)
|
|
|
NM_173660.5(DOK7):c.430A>T (p.Ile144Phe)
|
|
|
NM_173660.5(DOK7):c.435C>T (p.Pro145=)
|
|
|
NM_173660.5(DOK7):c.438G>A (p.Pro146=)
|
|
|
NM_173660.5(DOK7):c.439del (p.Ala147fs)
|
rs1577153029
|
|
NM_173660.5(DOK7):c.43G>A (p.Asp15Asn)
|
rs1726072530
|
|
NM_173660.5(DOK7):c.440C>T (p.Ala147Val)
|
rs1560212754
|
|
NM_173660.5(DOK7):c.442G>T (p.Val148Phe)
|
rs2109343658
|
|
NM_173660.5(DOK7):c.445A>G (p.Thr149Ala)
|
rs759723884
|
|
NM_173660.5(DOK7):c.446C>T (p.Thr149Met)
|
|
|
NM_173660.5(DOK7):c.447G>A (p.Thr149=)
|
|
|
NM_173660.5(DOK7):c.450G>A (p.Gly150=)
|
|
|
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
|
|
|
NM_173660.5(DOK7):c.457A>T (p.Lys153Ter)
|
rs1727096342
|
|
NM_173660.5(DOK7):c.45C>T (p.Asp15=)
|
rs759054772
|
|
NM_173660.5(DOK7):c.463_466del (p.Ser155fs)
|
|
|
NM_173660.5(DOK7):c.468C>T (p.Asp156=)
|
|
|
NM_173660.5(DOK7):c.469C>G (p.Leu157Val)
|
rs1727097545
|
|
NM_173660.5(DOK7):c.469C>T (p.Leu157Phe)
|
|
|
NM_173660.5(DOK7):c.46G>C (p.Gly16Arg)
|
rs764824461
|
|
NM_173660.5(DOK7):c.471C>T (p.Leu157=)
|
|
|
NM_173660.5(DOK7):c.473G>A (p.Arg158Gln)
|
|
|
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter)
|
rs550024569
|
|
NM_173660.5(DOK7):c.483_484dup (p.Ala162fs)
|
rs1577153124
|
|
NM_173660.5(DOK7):c.487G>A (p.Val163Met)
|
rs746946329
|
|
NM_173660.5(DOK7):c.487G>C (p.Val163Leu)
|
|
|
NM_173660.5(DOK7):c.48C>G (p.Gly16=)
|
|
|
NM_173660.5(DOK7):c.493A>G (p.Ser165Gly)
|
rs1470827824
|
|
NM_173660.5(DOK7):c.494G>A (p.Ser165Asn)
|
|
|
NM_173660.5(DOK7):c.496G>T (p.Gly166Ter)
|
|
|
NM_173660.5(DOK7):c.498A>T (p.Gly166=)
|
|
|
NM_173660.5(DOK7):c.501C>T (p.Phe167=)
|
rs1374098055
|
|
NM_173660.5(DOK7):c.513C>T (p.Gly171=)
|
rs775583136
|
|
NM_173660.5(DOK7):c.516G>T (p.Gly172=)
|
|
|
NM_173660.5(DOK7):c.518C>G (p.Thr173Ser)
|
|
|
NM_173660.5(DOK7):c.525T>G (p.Cys175Trp)
|
|
|
NM_173660.5(DOK7):c.532+13G>A
|
|
|
NM_173660.5(DOK7):c.532+15G>A
|
|
|
NM_173660.5(DOK7):c.532+20G>A
|
rs2109344000
|
|
NM_173660.5(DOK7):c.532+4A>C
|
|
|
NM_173660.5(DOK7):c.532+8C>T
|
|
|
NM_173660.5(DOK7):c.533-159_641del
|
rs2109369117
|
|
NM_173660.5(DOK7):c.533-15G>C
|
|
|
NM_173660.5(DOK7):c.533-16T>C
|
|
|
NM_173660.5(DOK7):c.533-19C>T
|
|
|
NM_173660.5(DOK7):c.533-2A>G
|
|
|
NM_173660.5(DOK7):c.533-4G>A
|
|
|
NM_173660.5(DOK7):c.533-6C>T
|
rs1727716278
|
|
NM_173660.5(DOK7):c.533-8C>G
|
|
|
NM_173660.5(DOK7):c.533-9C>T
|
|
|
NM_173660.5(DOK7):c.534G>T (p.Trp178Cys)
|
rs1727716645
|
|
NM_173660.5(DOK7):c.535G>C (p.Ala179Pro)
|
rs756146556
|
|
NM_173660.5(DOK7):c.539G>C (p.Gly180Ala)
|
rs118203994
|
|
NM_173660.5(DOK7):c.54+11G>A
|
|
|
NM_173660.5(DOK7):c.54+13C>A
|
|
|
NM_173660.5(DOK7):c.54+16G>A
|
|
|
NM_173660.5(DOK7):c.54+20G>A
|
rs1480112817
|
|
NM_173660.5(DOK7):c.54+20del
|
rs1726078584
|
|
NM_173660.5(DOK7):c.54+21C>G
|
|
|
NM_173660.5(DOK7):c.54+21C>T
|
rs865893625
|
|
NM_173660.5(DOK7):c.54+21_54+22del
|
|
|
NM_173660.5(DOK7):c.54+21del
|
rs1170595407
|
|
NM_173660.5(DOK7):c.54+22G>A
|
rs1726079112
|
|
NM_173660.5(DOK7):c.54+22G>T
|
rs1726079112
|
|
NM_173660.5(DOK7):c.54+22_54+23insA
|
|
|
NM_173660.5(DOK7):c.54+22_54+23insC
|
|
|
NM_173660.5(DOK7):c.54+22_54+23insT
|
|
|
NM_173660.5(DOK7):c.54+23G>C
|
rs781051112
|
|
NM_173660.5(DOK7):c.54+23G>T
|
rs781051112
|
|
NM_173660.5(DOK7):c.54+23_54+24insCG
|
|
|
NM_173660.5(DOK7):c.54+23_54+24insT
|
|
|
NM_173660.5(DOK7):c.54+24G>A
|
|
|
NM_173660.5(DOK7):c.54+24G>C
|
|
|
NM_173660.5(DOK7):c.54+24_54+25insA
|
|
|
NM_173660.5(DOK7):c.54+24_54+25insC
|
|
|
NM_173660.5(DOK7):c.54+25G>A
|
rs769791490
|
|
NM_173660.5(DOK7):c.54+25G>C
|
|
|
NM_173660.5(DOK7):c.54+25G>T
|
|
|
NM_173660.5(DOK7):c.54+25_54+26insA
|
|
|
NM_173660.5(DOK7):c.54+25_54+26insC
|
rs767285554
|
|
NM_173660.5(DOK7):c.54+25_54+26insCG
|
rs906657133
|
|
NM_173660.5(DOK7):c.54+25_54+26insT
|
|
|
NM_173660.5(DOK7):c.54+25_55-38del
|
rs769850502
|
|
NM_173660.5(DOK7):c.54+26G>A
|
|
|
NM_173660.5(DOK7):c.54+26G>C
|
rs543525751
|
|
NM_173660.5(DOK7):c.54+26G>T
|
rs543525751
|
|
NM_173660.5(DOK7):c.54+26_54+27insA
|
|
|
NM_173660.5(DOK7):c.54+26_54+27insAGGGG
|
rs1553844254
|
|
NM_173660.5(DOK7):c.54+26_54+27insC
|
|
|
NM_173660.5(DOK7):c.54+26_54+27insT
|
|
|
NM_173660.5(DOK7):c.54+27G>A
|
rs774468059
|
|
NM_173660.5(DOK7):c.54+27G>C
|
rs774468059
|
|
NM_173660.5(DOK7):c.54+27G>T
|
rs774468059
|
|
NM_173660.5(DOK7):c.54+27_54+28insA
|
|
|
NM_173660.5(DOK7):c.54+27_54+28insC
|
rs1282356351
|
|
NM_173660.5(DOK7):c.54+27_54+28insCG
|
|
|
NM_173660.5(DOK7):c.54+27_54+28insT
|
|
|
NM_173660.5(DOK7):c.54+28G>A
|
|
|
NM_173660.5(DOK7):c.54+28G>C
|
rs772575255
|
|
NM_173660.5(DOK7):c.54+28G>T
|
rs772575255
|
|
NM_173660.5(DOK7):c.54+28_54+29insA
|
rs777859905
|
|
NM_173660.5(DOK7):c.54+28_54+29insC
|
|
|
NM_173660.5(DOK7):c.54+28_54+29insCG
|
|
|
NM_173660.5(DOK7):c.54+28_54+29insT
|
|
|
NM_173660.5(DOK7):c.54+29G>A
|
|
|
NM_173660.5(DOK7):c.54+29G>C
|
rs767030857
|
|
NM_173660.5(DOK7):c.54+29G>T
|
rs767030857
|
|
NM_173660.5(DOK7):c.54+29_54+30insA
|
|
|
NM_173660.5(DOK7):c.54+29_54+30insC
|
|
|
NM_173660.5(DOK7):c.54+29_54+30insT
|
|
|
NM_173660.5(DOK7):c.54+30G>A
|
rs562528761
|
|
NM_173660.5(DOK7):c.54+30G>T
|
rs562528761
|
|
NM_173660.5(DOK7):c.54+30_54+31insA
|
|
|
NM_173660.5(DOK7):c.54+31G>A
|
|
|
NM_173660.5(DOK7):c.54+31G>C
|
|
|
NM_173660.5(DOK7):c.54+31GGGCGC[3]
|
|
|
NM_173660.5(DOK7):c.54+31_54+32insC
|
|
|
NM_173660.5(DOK7):c.54+31_54+32insCGCG
|
|
|
NM_173660.5(DOK7):c.54+31_54+33del
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+32G>T
|
|
|
NM_173660.5(DOK7):c.54+32_54+33del
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+32_54+33dup
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+32_54+33insCGCGG
|
rs1485695721
|
|
NM_173660.5(DOK7):c.54+32_54+33insTG
|
|
|
NM_173660.5(DOK7):c.54+33G>A
|
|
|
NM_173660.5(DOK7):c.54+33G>C
|
rs943989420
|
|
NM_173660.5(DOK7):c.54+33_54+34insGCGCGGG
|
rs1553844286
|
|
NM_173660.5(DOK7):c.54+33_54+34insGGCGCGGG
|
|
|
NM_173660.5(DOK7):c.54+33del
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+33dup
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+34C>G
|
|
|
NM_173660.5(DOK7):c.54+34C>T
|
rs751188494
|
|
NM_173660.5(DOK7):c.54+34_54+37del
|
|
|
NM_173660.5(DOK7):c.54+34_54+38del
|
|
|
NM_173660.5(DOK7):c.54+34del
|
rs1726087779
|
|
NM_173660.5(DOK7):c.54+34dup
|
|
|
NM_173660.5(DOK7):c.54+36C>G
|
|
|
NM_173660.5(DOK7):c.54+36_54+37del
|
rs1289091767
|
|
NM_173660.5(DOK7):c.54+38G>C
|
|
|
NM_173660.5(DOK7):c.54+7G>A
|
|
|
NM_173660.5(DOK7):c.54+8_54+17dup
|
|
|
NM_173660.5(DOK7):c.54+9G>A
|
|
|
NM_173660.5(DOK7):c.540C>T (p.Gly180=)
|
|
|
NM_173660.5(DOK7):c.546C>T (p.Phe182=)
|
rs575721820
|
|
NM_173660.5(DOK7):c.548_551del (p.Phe183fs)
|
rs606231130
|
|
NM_173660.5(DOK7):c.549C>T (p.Phe183=)
|
rs1448680067
|
|
NM_173660.5(DOK7):c.55-12C>G
|
|
|
NM_173660.5(DOK7):c.55-12_55-11del
|
|
|
NM_173660.5(DOK7):c.55-12del
|
rs1214849085
|
|
NM_173660.5(DOK7):c.55-13C>G
|
rs886038744
|
|
NM_173660.5(DOK7):c.55-13C>T
|
|
|
NM_173660.5(DOK7):c.55-15C>G
|
|
|
NM_173660.5(DOK7):c.55-16C>A
|
rs976572936
|
|
NM_173660.5(DOK7):c.55-17C>T
|
|
|
NM_173660.5(DOK7):c.55-18_55-17insA
|
|
|
NM_173660.5(DOK7):c.55-1G>T
|
rs863223277
|
|
NM_173660.5(DOK7):c.55-38G>A
|
|
|
NM_173660.5(DOK7):c.55-4G>A
|
|
|
NM_173660.5(DOK7):c.55-8C>T
|
rs2109312415
|
|
NM_173660.5(DOK7):c.550C>T (p.Leu184=)
|
|
|
NM_173660.5(DOK7):c.551T>C (p.Leu184Pro)
|
rs1727718542
|
|
NM_173660.5(DOK7):c.558G>A (p.Ser186=)
|
|
|
NM_173660.5(DOK7):c.558G>T (p.Ser186=)
|
|
|
NM_173660.5(DOK7):c.559G>C (p.Ala187Pro)
|
rs1220205278
|
|
NM_173660.5(DOK7):c.564G>C (p.Glu188Asp)
|
rs375631042
|
|
NM_173660.5(DOK7):c.565G>T (p.Gly189Trp)
|
rs1727720417
|
|
NM_173660.5(DOK7):c.570G>A (p.Glu190=)
|
rs962876610
|
|
NM_173660.5(DOK7):c.576C>T (p.Ile192=)
|
|
|
NM_173660.5(DOK7):c.583C>G (p.Leu195Val)
|
|
|
NM_173660.5(DOK7):c.588C>G (p.Phe196Leu)
|
rs149940009
|
|
NM_173660.5(DOK7):c.588C>T (p.Phe196=)
|
rs149940009
|
|
NM_173660.5(DOK7):c.597C>A (p.Ile199=)
|
|
|
NM_173660.5(DOK7):c.600C>A (p.Val200=)
|
|
|
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)
|
rs118203995
|
|
NM_173660.5(DOK7):c.603A>C (p.Arg201=)
|
|
|
NM_173660.5(DOK7):c.60G>A (p.Lys20=)
|
|
|
NM_173660.5(DOK7):c.612C>T (p.Ser204=)
|
rs2109370734
|
|
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr)
|
rs1553847993
|
|
NM_173660.5(DOK7):c.615C>A (p.Pro205=)
|
|
|
NM_173660.5(DOK7):c.615C>G (p.Pro205=)
|
rs553239093
|
|
NM_173660.5(DOK7):c.615C>T (p.Pro205=)
|
rs553239093
|
|
NM_173660.5(DOK7):c.618C>A (p.Thr206=)
|
|
|
NM_173660.5(DOK7):c.619A>C (p.Lys207Gln)
|
rs1240579533
|
|
NM_173660.5(DOK7):c.621G>A (p.Lys207=)
|
|
|
NM_173660.5(DOK7):c.625C>A (p.Pro209Thr)
|
rs759603846
|
|
NM_173660.5(DOK7):c.626C>T (p.Pro209Leu)
|
rs902286336
|
|
NM_173660.5(DOK7):c.633G>T (p.Gly211=)
|
rs1577165754
|
|
NM_173660.5(DOK7):c.638G>C (p.Arg213Pro)
|
rs371408752
|
|
NM_173660.5(DOK7):c.638G>T (p.Arg213Leu)
|
rs371408752
|
|
NM_173660.5(DOK7):c.642G>A (p.Pro214=)
|
|
|
NM_173660.5(DOK7):c.642G>C (p.Pro214=)
|
rs746371931
|
|
NM_173660.5(DOK7):c.652+16T>G
|
|
|
NM_173660.5(DOK7):c.652+1dup
|
rs1727731607
|
|
NM_173660.5(DOK7):c.652+20C>G
|
|
|
NM_173660.5(DOK7):c.652+20C>T
|
|
|
NM_173660.5(DOK7):c.652+4C>T
|
rs374675986
|
|
NM_173660.5(DOK7):c.652+8T>C
|
|
|
NM_173660.5(DOK7):c.652+9G>A
|
|
|
NM_173660.5(DOK7):c.652G>A (p.Asp218Asn)
|
|
|
NM_173660.5(DOK7):c.653-11_653-8del
|
|
|
NM_173660.5(DOK7):c.653-13C>T
|
|
|
NM_173660.5(DOK7):c.653-18G>A
|
|
|
NM_173660.5(DOK7):c.653-20G>A
|
|
|
NM_173660.5(DOK7):c.653-20G>C
|
|
|
NM_173660.5(DOK7):c.653-20G>T
|
rs185980724
|
|
NM_173660.5(DOK7):c.653-20del
|
|
|
NM_173660.5(DOK7):c.653-3C>T
|
rs767745850
|
|
NM_173660.5(DOK7):c.653-4A>G
|
rs1577171863
|
|
NM_173660.5(DOK7):c.653-5C>T
|
|
|
NM_173660.5(DOK7):c.654C>A (p.Asp218Glu)
|
rs1728055459
|
|
NM_173660.5(DOK7):c.656C>G (p.Pro219Arg)
|
|
|
NM_173660.5(DOK7):c.657A>G (p.Pro219=)
|
|
|
NM_173660.5(DOK7):c.657A>T (p.Pro219=)
|
|
|
NM_173660.5(DOK7):c.661C>A (p.Pro221Thr)
|
rs377167511
|
|
NM_173660.5(DOK7):c.661C>G (p.Pro221Ala)
|
|
|
NM_173660.5(DOK7):c.661C>T (p.Pro221Ser)
|
rs377167511
|
|
NM_173660.5(DOK7):c.663C>T (p.Pro221=)
|
|
|
NM_173660.5(DOK7):c.666G>T (p.Pro222=)
|
|
|
NM_173660.5(DOK7):c.668dup (p.Pro224fs)
|
|
|
NM_173660.5(DOK7):c.66G>A (p.Arg22=)
|
rs1726093217
|
|
NM_173660.5(DOK7):c.66_69dup (p.Leu24fs)
|
|
|
NM_173660.5(DOK7):c.673T>G (p.Ser225Ala)
|
|
|
NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)
|
|
|
NM_173660.5(DOK7):c.678T>G (p.Thr226=)
|
|
|
NM_173660.5(DOK7):c.685G>A (p.Glu229Lys)
|
|
|
NM_173660.5(DOK7):c.686A>G (p.Glu229Gly)
|
|
|
NM_173660.5(DOK7):c.68G>T (p.Trp23Leu)
|
rs2109312461
|
|
NM_173660.5(DOK7):c.690T>G (p.Arg230=)
|
rs1577172106
|
|
NM_173660.5(DOK7):c.696C>T (p.Ala232=)
|
|
|
NM_173660.5(DOK7):c.699G>A (p.Gln233=)
|
|
|
NM_173660.5(DOK7):c.6C>T (p.Thr2=)
|
|
|
NM_173660.5(DOK7):c.702A>G (p.Glu234=)
|
|
|
NM_173660.5(DOK7):c.707T>G (p.Leu236Arg)
|
rs2109388893
|
|
NM_173660.5(DOK7):c.708G>A (p.Leu236=)
|
|
|
NM_173660.5(DOK7):c.713C>T (p.Thr238Ile)
|
|
|
NM_173660.5(DOK7):c.714C>A (p.Thr238=)
|
|
|
NM_173660.5(DOK7):c.714C>T (p.Thr238=)
|
|
|
NM_173660.5(DOK7):c.717A>G (p.Leu239=)
|
|
|
NM_173660.5(DOK7):c.718C>T (p.Gln240Ter)
|
|
|
NM_173660.5(DOK7):c.718del (p.Gln240fs)
|
rs2109388978
|
|
NM_173660.5(DOK7):c.720G>A (p.Gln240=)
|
|
|
NM_173660.5(DOK7):c.724G>C (p.Glu242Gln)
|
|
|
NM_173660.5(DOK7):c.725A>C (p.Glu242Ala)
|
|
|
NM_173660.5(DOK7):c.727A>G (p.Lys243Glu)
|
|
|
NM_173660.5(DOK7):c.731G>A (p.Arg244Gln)
|
|
|
NM_173660.5(DOK7):c.737G>C (p.Ser246Thr)
|
rs2109389067
|
|
NM_173660.5(DOK7):c.743_746dup (p.His250fs)
|
rs1560224831
|
|
NM_173660.5(DOK7):c.751G>A (p.Ala251Thr)
|
|
|
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu)
|
rs376251309
|
|
NM_173660.5(DOK7):c.752C>G (p.Ala251Gly)
|
|
|
NM_173660.5(DOK7):c.752_753delinsTA (p.Ala251Val)
|
rs1577172369
|
|
NM_173660.5(DOK7):c.753G>C (p.Ala251=)
|
rs59932476
|
|
NM_173660.5(DOK7):c.753G>T (p.Ala251=)
|
|
|
NM_173660.5(DOK7):c.757A>C (p.Arg253=)
|
|
|
NM_173660.5(DOK7):c.757_772+3del
|
|
|
NM_173660.5(DOK7):c.759_767del (p.Arg253_Gly255del)
|
rs373384998
|
|
NM_173660.5(DOK7):c.761C>G (p.Pro254Arg)
|
rs200407250
|
|
NM_173660.5(DOK7):c.761C>T (p.Pro254Leu)
|
rs200407250
|
|
NM_173660.5(DOK7):c.762G>C (p.Pro254=)
|
|
|
NM_173660.5(DOK7):c.765C>T (p.Gly255=)
|
|
|
NM_173660.5(DOK7):c.768T>C (p.Ser256=)
|
|
|
NM_173660.5(DOK7):c.772+13G>A
|
|
|
NM_173660.5(DOK7):c.772+13dup
|
|
|
NM_173660.5(DOK7):c.772+14C>T
|
rs201023802
|
|
NM_173660.5(DOK7):c.772+14del
|
|
|
NM_173660.5(DOK7):c.772+4G>A
|
|
|
NM_173660.5(DOK7):c.772+6G>C
|
rs2109389412
|
|
NM_173660.5(DOK7):c.772+8C>G
|
|
|
NM_173660.5(DOK7):c.773-10T>G
|
|
|
NM_173660.5(DOK7):c.773-11C>T
|
|
|
NM_173660.5(DOK7):c.773-13T>C
|
|
|
NM_173660.5(DOK7):c.773-15C>G
|
|
|
NM_173660.5(DOK7):c.773-15C>T
|
|
|
NM_173660.5(DOK7):c.773-19G>T
|
|
|
NM_173660.5(DOK7):c.773-1G>A
|
rs1268475752
|
|
NM_173660.5(DOK7):c.773-1G>C
|
|
|
NM_173660.5(DOK7):c.773-2A>C
|
rs1229979805
|
|
NM_173660.5(DOK7):c.773-2A>T
|
rs1229979805
|
|
NM_173660.5(DOK7):c.773-7_773-4del
|
|
|
NM_173660.5(DOK7):c.773-8_797del
|
|
|
NM_173660.5(DOK7):c.773-9C>G
|
|
|
NM_173660.5(DOK7):c.773-9C>T
|
rs376190589
|
|
NM_173660.5(DOK7):c.776A>C (p.Asp259Ala)
|
|
|
NM_173660.5(DOK7):c.781C>G (p.Arg261Gly)
|
rs142821143
|
|
NM_173660.5(DOK7):c.781C>T (p.Arg261Cys)
|
rs142821143
|
|
NM_173660.5(DOK7):c.783C>G (p.Arg261=)
|
rs1366900661
|
|
NM_173660.5(DOK7):c.789G>A (p.Leu263=)
|
|
|
NM_173660.5(DOK7):c.798A>G (p.Ser266=)
|
|
|
NM_173660.5(DOK7):c.7G>A (p.Glu3Lys)
|
rs763233743
|
|
NM_173660.5(DOK7):c.801C>T (p.Ser267=)
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NM_173660.5(DOK7):c.805G>C (p.Glu269Gln)
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NM_173660.5(DOK7):c.810_811del (p.His272fs)
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rs778227501
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NM_173660.5(DOK7):c.814C>T (p.His272Tyr)
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rs1226413438
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NM_173660.5(DOK7):c.819G>A (p.Leu273=)
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NM_173660.5(DOK7):c.821A>C (p.Asp274Ala)
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rs1372127333
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NM_173660.5(DOK7):c.825C>G (p.Val275=)
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NM_173660.5(DOK7):c.840G>C (p.Arg280=)
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NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)
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NM_173660.5(DOK7):c.855A>G (p.Pro285=)
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NM_173660.5(DOK7):c.856G>A (p.Glu286Lys)
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rs1577181909
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NM_173660.5(DOK7):c.856G>C (p.Glu286Gln)
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rs1577181909
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NM_173660.5(DOK7):c.858G>A (p.Glu286=)
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NM_173660.5(DOK7):c.85C>G (p.Pro29Ala)
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NM_173660.5(DOK7):c.861A>G (p.Gln287=)
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NM_173660.5(DOK7):c.867G>A (p.Ser289=)
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NM_173660.5(DOK7):c.867G>C (p.Ser289=)
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rs145862647
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NM_173660.5(DOK7):c.867GTC[1] (p.Ser291del)
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rs749831515
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NM_173660.5(DOK7):c.868T>G (p.Ser290Ala)
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NM_173660.5(DOK7):c.869C>T (p.Ser290Leu)
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NM_173660.5(DOK7):c.870G>A (p.Ser290=)
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rs149019681
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NM_173660.5(DOK7):c.870G>C (p.Ser290=)
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NM_173660.5(DOK7):c.873A>G (p.Ser291=)
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NM_173660.5(DOK7):c.875C>T (p.Ala292Val)
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rs761676338
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NM_173660.5(DOK7):c.87G>A (p.Pro29=)
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NM_173660.5(DOK7):c.881C>A (p.Thr294Lys)
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rs151079259
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NM_173660.5(DOK7):c.881C>T (p.Thr294Met)
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NM_173660.5(DOK7):c.882G>C (p.Thr294=)
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NM_173660.5(DOK7):c.886_887inv (p.Gln296Trp)
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NM_173660.5(DOK7):c.887A>T (p.Gln296Leu)
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rs6811423
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NM_173660.5(DOK7):c.889G>A (p.Glu297Lys)
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rs1728590424
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NM_173660.5(DOK7):c.891G>A (p.Glu297=)
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NM_173660.5(DOK7):c.893G>A (p.Gly298Glu)
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rs1553850025
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NM_173660.5(DOK7):c.894G>T (p.Gly298=)
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NM_173660.5(DOK7):c.894dup (p.Pro299fs)
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NM_173660.5(DOK7):c.906A>G (p.Ala302=)
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NM_173660.5(DOK7):c.909T>C (p.Ala303=)
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NM_173660.5(DOK7):c.918C>G (p.Ala306=)
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rs141947707
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NM_173660.5(DOK7):c.918C>T (p.Ala306=)
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rs141947707
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NM_173660.5(DOK7):c.919G>C (p.Ala307Pro)
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rs150415034
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NM_173660.5(DOK7):c.921C>G (p.Ala307=)
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NM_173660.5(DOK7):c.924G>C (p.Gly308=)
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NM_173660.5(DOK7):c.925del (p.Glu309fs)
|
rs1182982672
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NM_173660.5(DOK7):c.927A>G (p.Glu309=)
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NM_173660.5(DOK7):c.930_933del (p.Met311fs)
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rs2109417343
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NM_173660.5(DOK7):c.937G>A (p.Gly313Ser)
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rs1313698372
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NM_173660.5(DOK7):c.93C>T (p.Pro31=)
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NM_173660.5(DOK7):c.946A>C (p.Arg316=)
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rs898373845
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NM_173660.5(DOK7):c.94G>C (p.Val32Leu)
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NM_173660.5(DOK7):c.956C>A (p.Pro319His)
|
rs376334067
|
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NM_173660.5(DOK7):c.956C>G (p.Pro319Arg)
|
rs376334067
|
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NM_173660.5(DOK7):c.957C>T (p.Pro319=)
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rs777573281
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NM_173660.5(DOK7):c.957del (p.Lys320fs)
|
rs794727884
|
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NM_173660.5(DOK7):c.957dup (p.Lys320fs)
|
rs794727884
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NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)
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NM_173660.5(DOK7):c.960G>A (p.Lys320=)
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NM_173660.5(DOK7):c.963G>A (p.Pro321=)
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rs112624739
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NM_173660.5(DOK7):c.963G>T (p.Pro321=)
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NM_173660.5(DOK7):c.964C>T (p.Leu322=)
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NM_173660.5(DOK7):c.967C>T (p.Arg323Cys)
|
rs150728781
|
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NM_173660.5(DOK7):c.96G>A (p.Val32=)
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NM_173660.5(DOK7):c.96G>T (p.Val32=)
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NM_173660.5(DOK7):c.973C>A (p.Arg325=)
|
rs376280466
|
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NM_173660.5(DOK7):c.978_1018del (p.Gln326fs)
|
rs2109417797
|
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NM_173660.5(DOK7):c.97G>A (p.Ala33Thr)
|
rs1425852835
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NM_173660.5(DOK7):c.983A>G (p.Gln328Arg)
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rs752168445
|
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NM_173660.5(DOK7):c.987G>A (p.Glu329=)
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NM_173660.5(DOK7):c.987G>C (p.Glu329Asp)
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NM_173660.5(DOK7):c.98C>T (p.Ala33Val)
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NM_173660.5(DOK7):c.993C>G (p.Gly331=)
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NM_173660.5(DOK7):c.999G>A (p.Gln333=)
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NR_027928.2(CHKB-CPT1B):n.772_780del
|
rs1603443745
|
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Single allele
|
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