|
NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
|
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln)
|
rs1516446
|
0.99509
|
|
NM_001035.3(RYR2):c.6906T>C (p.Leu2302=)
|
rs707189
|
0.96110
|
|
NM_001035.3(RYR2):c.10776C>T (p.Ser3592=)
|
rs2685301
|
0.95962
|
|
NM_001035.3(RYR2):c.10503C>T (p.Thr3501=)
|
rs2797441
|
0.95950
|
|
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=)
|
rs7430407
|
0.90302
|
|
NM_005902.4(SMAD3):c.309A>G (p.Leu103=)
|
rs1065080
|
0.87365
|
|
NM_001035.3(RYR2):c.2973A>G (p.Ser991=)
|
rs2253273
|
0.84980
|
|
NM_000335.5(SCN5A):c.87A>G (p.Ala29=)
|
rs6599230
|
0.80621
|
|
NM_004415.4(DSP):c.2091A>G (p.Gly697=)
|
rs2076304
|
0.76849
|
|
NM_004415.4(DSP):c.2631G>A (p.Arg877=)
|
rs1016835
|
0.74603
|
|
NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=)
|
rs1137617
|
0.70278
|
|
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)
|
rs3729547
|
0.69444
|
|
NM_004415.4(DSP):c.8472G>C (p.Gly2824=)
|
rs2744380
|
0.68624
|
|
NM_001035.3(RYR2):c.13783-6A>G
|
rs790901
|
0.66919
|
|
NM_001018005.2(TPM1):c.453C>A (p.Ala151=)
|
rs1071646
|
0.64628
|
|
NM_001035.3(RYR2):c.677-11T>A
|
rs10754602
|
0.53281
|
|
NM_000257.4(MYH7):c.189C>T (p.Thr63=)
|
rs2069540
|
0.51584
|
|
NM_001035.3(RYR2):c.1359C>T (p.Ser453=)
|
rs3765097
|
0.51474
|
|
NM_000238.4(KCNH2):c.1692A>G (p.Leu564=)
|
rs1805121
|
0.51247
|
|
NM_001943.5(DSG2):c.861C>T (p.Asn287=)
|
rs2230233
|
0.50779
|
|
NM_002474.3(MYH11):c.1743T>C (p.Ala581=)
|
rs2272554
|
0.49695
|
|
NM_001943.5(DSG2):c.3321T>C (p.Val1107=)
|
rs1791235
|
0.48308
|
|
NM_001035.3(RYR2):c.7806C>T (p.His2602=)
|
rs684923
|
0.47802
|
|
NM_002474.3(MYH11):c.1249-11G>C
|
rs2280764
|
0.46907
|
|
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=)
|
rs2075511
|
0.45713
|
|
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=)
|
rs1805126
|
0.44288
|
|
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=)
|
rs1050162
|
0.44262
|
|
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=)
|
rs1050163
|
0.44235
|
|
NM_000257.4(MYH7):c.2967T>C (p.Ile989=)
|
rs7157716
|
0.43030
|
|
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=)
|
rs1052373
|
0.38767
|
|
NM_001035.3(RYR2):c.11963-11T>C
|
rs790889
|
0.35417
|
|
NM_000363.5(TNNI3):c.25-8T>A
|
rs3729836
|
0.35138
|
|
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr)
|
rs2340917
|
0.35127
|
|
NM_001035.3(RYR2):c.464-8A>C
|
rs10925391
|
0.33866
|
|
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn)
|
rs4685076
|
0.29043
|
|
NM_004415.4(DSP):c.7122C>T (p.Thr2374=)
|
rs2076300
|
0.28306
|
|
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=)
|
rs1801184
|
0.27758
|
|
NM_000257.4(MYH7):c.732C>T (p.Phe244=)
|
rs2069542
|
0.27385
|
|
NM_004415.4(DSP):c.2862C>T (p.Cys954=)
|
rs2064217
|
0.27166
|
|
NM_002474.3(MYH11):c.2472C>T (p.Ala824=)
|
rs1050113
|
0.26411
|
|
NM_003242.6(TGFBR2):c.455-4T>A
|
rs11466512
|
0.25954
|
|
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=)
|
rs1805120
|
0.25427
|
|
NM_000138.5(FBN1):c.1875T>C (p.Asn625=)
|
rs25458
|
0.25074
|
|
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
|
rs1805124
|
0.24768
|
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
|
NM_000090.4(COL3A1):c.1978-11C>T
|
rs13306272
|
0.23521
|
|
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys)
|
rs2278792
|
0.22185
|
|
NM_005902.4(SMAD3):c.-15G>A
|
rs1061427
|
0.22024
|
|
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr)
|
rs16967494
|
0.21955
|
|
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)
|
rs1800255
|
0.21080
|
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
|
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg)
|
rs34967813
|
0.20632
|
|
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr)
|
rs1805123
|
0.20300
|
|
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro)
|
rs1046116
|
0.20181
|
|
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln)
|
rs6929069
|
0.19612
|
|
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val)
|
rs1893963
|
0.18480
|
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
|
NM_001943.5(DSG2):c.2505A>G (p.Thr835=)
|
rs1042769
|
0.18278
|
|
NM_004415.4(DSP):c.1dup (p.Met1fs)
|
rs17133512
|
0.17362
|
|
NM_000335.5(SCN5A):c.1141-3C>A
|
rs41312433
|
0.16821
|
|
NM_000138.5(FBN1):c.3464-5G>A
|
rs11853943
|
0.16287
|
|
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=)
|
rs1057128
|
0.16286
|
|
NM_000090.4(COL3A1):c.1816-14G>C
|
rs7579815
|
0.15982
|
|
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=)
|
rs7579903
|
0.15955
|
|
NM_000257.4(MYH7):c.1128C>T (p.Asp376=)
|
rs2231126
|
0.15761
|
|
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)
|
rs3729830
|
0.14676
|
|
NM_000257.4(MYH7):c.1095G>A (p.Lys365=)
|
rs735711
|
0.13859
|
|
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)
|
rs2076299
|
0.13777
|
|
NM_002474.3(MYH11):c.417C>T (p.Val139=)
|
rs1050111
|
0.10480
|
|
NM_024422.6(DSC2):c.111A>G (p.Leu37=)
|
rs12954874
|
0.10312
|
|
NM_001035.3(RYR2):c.849-8T>C
|
rs16835237
|
0.09863
|
|
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly)
|
rs3729989
|
0.09621
|
|
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=)
|
rs12907
|
0.08987
|
|
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=)
|
rs11570058
|
0.08958
|
|
NM_002474.3(MYH11):c.987C>T (p.Thr329=)
|
rs4781689
|
0.08684
|
|
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=)
|
rs3729845
|
0.08311
|
|
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser)
|
rs868333
|
0.08191
|
|
NM_000432.4(MYL2):c.132T>C (p.Ile44=)
|
rs2301610
|
0.08171
|
|
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=)
|
rs28505375
|
0.07791
|
|
NM_002474.3(MYH11):c.2208C>T (p.Ile736=)
|
rs12931799
|
0.07252
|
|
NM_004415.4(DSP):c.126T>C (p.Tyr42=)
|
rs36087964
|
0.06956
|
|
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met)
|
rs3729986
|
0.06899
|
|
NM_000138.5(FBN1):c.156G>T (p.Ala52=)
|
rs25398
|
0.06859
|
|
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=)
|
rs13324293
|
0.06728
|
|
NM_002474.3(MYH11):c.2079C>T (p.Phe693=)
|
rs34287137
|
0.06287
|
|
NM_002474.3(MYH11):c.2061C>T (p.Ser687=)
|
rs880071
|
0.06148
|
|
NM_000257.4(MYH7):c.1062C>T (p.Gly354=)
|
rs735712
|
0.06133
|
|
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser)
|
rs3766871
|
0.06110
|
|
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)
|
rs3730238
|
0.05965
|
|
NM_001035.3(RYR2):c.1611G>A (p.Leu537=)
|
rs78281932
|
0.05734
|
|
NM_001035.3(RYR2):c.4684-11C>T
|
rs7546045
|
0.05719
|
|
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=)
|
rs41315495
|
0.05498
|
|
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)
|
rs79241126
|
0.05477
|
|
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=)
|
rs11558747
|
0.05001
|
|
NM_000218.3(KCNQ1):c.478-10G>A
|
rs28730752
|
0.04910
|
|
NM_000363.5(TNNI3):c.537G>A (p.Glu179=)
|
rs3729841
|
0.04860
|
|
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys)
|
rs28763966
|
0.04717
|
|
NM_004415.4(DSP):c.8175C>A (p.Arg2725=)
|
rs11558731
|
0.04375
|
|
NM_002474.3(MYH11):c.135C>T (p.Phe45=)
|
rs28570191
|
0.04299
|
|
NM_000335.5(SCN5A):c.2788-6C>T
|
rs41260344
|
0.04241
|
|
NM_000432.4(MYL2):c.4-14C>T
|
rs12301951
|
0.04173
|
|
NM_000363.5(TNNI3):c.204G>T (p.Arg68=)
|
rs3729711
|
0.04033
|
|
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=)
|
rs11570051
|
0.03962
|
|
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala)
|
rs16967510
|
0.03954
|
|
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=)
|
rs28763998
|
0.03936
|
|
NM_002474.3(MYH11):c.5172-14C>T
|
rs34839877
|
0.03595
|
|
NM_001035.3(RYR2):c.5400A>G (p.Lys1800=)
|
rs3820216
|
0.03524
|
|
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)
|
rs35874463
|
0.03414
|
|
NM_000363.5(TNNI3):c.198G>A (p.Glu66=)
|
rs3729710
|
0.03372
|
|
NM_000257.4(MYH7):c.1605A>G (p.Glu535=)
|
rs2069543
|
0.03319
|
|
NM_001276345.2(TNNT2):c.610-90G>A
|
rs11810834
|
0.03251
|
|
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=)
|
rs35295469
|
0.03116
|
|
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys)
|
rs6791924
|
0.03086
|
|
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=)
|
rs3729953
|
0.03083
|
|
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)
|
rs2228048
|
0.03013
|
|
NM_002474.3(MYH11):c.792T>C (p.Tyr264=)
|
rs34341838
|
0.03006
|
|
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)
|
rs2228047
|
0.02974
|
|
NM_002474.3(MYH11):c.*5C>G
|
rs1875184
|
0.02929
|
|
NM_001035.3(RYR2):c.1776A>T (p.Gly592=)
|
rs72549414
|
0.02926
|
|
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=)
|
rs363836
|
0.02755
|
|
NM_004415.4(DSP):c.913A>T (p.Ile305Phe)
|
rs17604693
|
0.02655
|
|
NM_024334.3(TMEM43):c.163-14C>T
|
rs113745859
|
0.02553
|
|
NM_001035.3(RYR2):c.8437-7dup
|
rs148246251
|
0.02544
|
|
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=)
|
rs2229102
|
0.02537
|
|
NM_005159.5(ACTC1):c.927T>C (p.Pro309=)
|
rs2307493
|
0.02473
|
|
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
|
rs363830
|
0.02418
|
|
NM_001943.5(DSG2):c.524-9T>A
|
rs11876289
|
0.02255
|
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
|
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile)
|
rs116605521
|
0.02188
|
|
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=)
|
rs3218719
|
0.02170
|
|
NM_000258.3(MYL3):c.69C>T (p.Pro23=)
|
rs2233264
|
0.02058
|
|
NM_024334.3(TMEM43):c.909C>T (p.Ser303=)
|
rs35100587
|
0.02012
|
|
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile)
|
rs75909145
|
0.01900
|
|
NM_000257.4(MYH7):c.975C>T (p.Asp325=)
|
rs2231124
|
0.01865
|
|
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=)
|
rs41272837
|
0.01840
|
|
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)
|
rs41315858
|
0.01767
|
|
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=)
|
rs75206601
|
0.01733
|
|
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=)
|
rs17215465
|
0.01545
|
|
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly)
|
rs56229512
|
0.01531
|
|
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=)
|
rs80302667
|
0.01481
|
|
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)
|
rs117185005
|
0.01464
|
|
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile)
|
rs16835270
|
0.01462
|
|
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=)
|
rs7140196
|
0.01445
|
|
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=)
|
rs11570097
|
0.01438
|
|
NM_000257.4(MYH7):c.1002C>T (p.Asn334=)
|
rs34803781
|
0.01418
|
|
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp)
|
rs11570076
|
0.01409
|
|
NM_000138.5(FBN1):c.3082+6A>G
|
rs79321504
|
0.01406
|
|
NM_000238.4(KCNH2):c.1809C>T (p.Gly603=)
|
rs41314375
|
0.01398
|
|
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=)
|
rs41313699
|
0.01360
|
|
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=)
|
rs11648119
|
0.01341
|
|
NM_004415.4(DSP):c.4773G>A (p.Arg1591=)
|
rs28763968
|
0.01341
|
|
NM_001035.3(RYR2):c.6928+4G>A
|
rs79862521
|
0.01335
|
|
NM_001035.3(RYR2):c.4684-5G>C
|
rs7522981
|
0.01334
|
|
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)
|
rs140598
|
0.01315
|
|
NM_000257.4(MYH7):c.1767C>T (p.Asn589=)
|
rs3729816
|
0.01311
|
|
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=)
|
rs56226196
|
0.01290
|
|
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)
|
rs80325569
|
0.01244
|
|
NM_001943.5(DSG2):c.217-5G>T
|
rs80073511
|
0.01232
|
|
NM_002474.3(MYH11):c.3310G>A (p.Ala1104Thr)
|
rs34263860
|
0.01232
|
|
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=)
|
rs9770044
|
0.01204
|
|
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr)
|
rs41313691
|
0.01184
|
|
NM_002474.3(MYH11):c.3651+5del
|
rs201404398
|
0.01163
|
|
NM_004415.4(DSP):c.3963G>A (p.Gln1321=)
|
rs61731476
|
0.01161
|
|
NM_002474.3(MYH11):c.2412-9C>A
|
rs148682361
|
0.01132
|
|
NM_001943.5(DSG2):c.3243C>T (p.Val1081=)
|
rs11542379
|
0.01097
|
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01077
|
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
|
NM_001035.3(RYR2):c.2397-6C>T
|
rs78165942
|
0.01029
|
|
NM_000218.3(KCNQ1):c.1394-14C>T
|
rs28730758
|
0.01027
|
|
NM_002474.3(MYH11):c.387A>G (p.Lys129=)
|
rs78754138
|
0.01024
|
|
NM_004415.4(DSP):c.3510G>A (p.Glu1170=)
|
rs28763964
|
0.01023
|
|
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=)
|
rs8046180
|
0.01019
|
|
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val)
|
rs62001016
|
0.01013
|
|
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=)
|
rs78369334
|
0.00989
|
|
NM_016203.4(PRKAG2):c.*3G>A
|
rs113234987
|
0.00973
|
|
NM_001035.3(RYR2):c.2204-7C>G
|
rs147479514
|
0.00944
|
|
NM_004415.4(DSP):c.6390T>C (p.Ala2130=)
|
rs28763969
|
0.00940
|
|
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)
|
rs28763967
|
0.00925
|
|
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile)
|
rs2230235
|
0.00917
|
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
|
NM_001276345.2(TNNT2):c.68-8A>G
|
rs115805892
|
0.00864
|
|
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)
|
rs3729823
|
0.00861
|
|
NM_000138.5(FBN1):c.3965-8T>C
|
rs140637
|
0.00859
|
|
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=)
|
rs41311123
|
0.00859
|
|
NM_000257.4(MYH7):c.597A>G (p.Ala199=)
|
rs2069541
|
0.00853
|
|
NM_024334.3(TMEM43):c.222C>T (p.Pro74=)
|
rs34099410
|
0.00841
|
|
NM_024422.6(DSC2):c.351A>G (p.Thr117=)
|
rs117812913
|
0.00832
|
|
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=)
|
rs2754155
|
0.00831
|
|
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=)
|
rs8095704
|
0.00801
|
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
|
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=)
|
rs35914325
|
0.00788
|
|
NM_001035.3(RYR2):c.11835C>T (p.Val3945=)
|
rs78939657
|
0.00787
|
|
NM_170707.4(LMNA):c.438C>T (p.Ala146=)
|
rs80356805
|
0.00782
|
|
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser)
|
rs1800172
|
0.00760
|
|
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val)
|
rs3729952
|
0.00756
|
|
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=)
|
rs112377790
|
0.00746
|
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
|
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)
|
rs72549415
|
0.00737
|
|
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile)
|
rs34150427
|
0.00734
|
|
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)
|
rs143004808
|
0.00716
|
|
NM_000090.4(COL3A1):c.583-8C>T
|
rs10166835
|
0.00713
|
|
NM_004415.4(DSP):c.2673T>C (p.Tyr891=)
|
rs146407262
|
0.00703
|
|
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)
|
rs34884895
|
0.00701
|
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
|
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu)
|
rs16962093
|
0.00694
|
|
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)
|
rs146708884
|
0.00677
|
|
NM_001035.3(RYR2):c.2046A>G (p.Thr682=)
|
rs116098815
|
0.00675
|
|
NM_002474.3(MYH11):c.4791+4C>T
|
rs142108062
|
0.00664
|
|
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys)
|
rs35924492
|
0.00660
|
|
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=)
|
rs144876996
|
0.00659
|
|
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro)
|
rs34417028
|
0.00652
|
|
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile)
|
rs34065672
|
0.00649
|
|
NM_000238.4(KCNH2):c.1558-5C>T
|
rs114186001
|
0.00642
|
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
|
NM_002474.3(MYH11):c.5296-4C>T
|
rs183176702
|
0.00636
|
|
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val)
|
rs11924644
|
0.00629
|
|
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)
|
rs28763961
|
0.00618
|
|
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)
|
rs41263773
|
0.00608
|
|
NM_001035.3(RYR2):c.14299-12A>G
|
rs41267519
|
0.00603
|
|
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)
|
rs35078470
|
0.00601
|
|
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile)
|
rs141159831
|
0.00600
|
|
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr)
|
rs36083134
|
0.00599
|
|
NM_024422.6(DSC2):c.1719C>T (p.Asn573=)
|
rs140167653
|
0.00590
|
|
NM_004415.4(DSP):c.105G>A (p.Gly35=)
|
rs77445784
|
0.00587
|
|
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=)
|
rs45624133
|
0.00575
|
|
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser)
|
rs113902911
|
0.00572
|
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
|
NM_000432.4(MYL2):c.381G>A (p.Ala127=)
|
rs2233261
|
0.00558
|
|
NM_000138.5(FBN1):c.2855-9C>T
|
rs140590
|
0.00556
|
|
NM_001943.5(DSG2):c.473T>G (p.Val158Gly)
|
rs191143292
|
0.00550
|
|
NM_000138.5(FBN1):c.1029G>A (p.Gly343=)
|
rs75655780
|
0.00545
|
|
NM_001035.3(RYR2):c.14809-15C>G
|
rs790897
|
0.00538
|
|
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=)
|
rs144384573
|
0.00538
|
|
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=)
|
rs41313687
|
0.00537
|
|
NM_002474.3(MYH11):c.1419G>A (p.Gln473=)
|
rs61734198
|
0.00535
|
|
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)
|
rs35028636
|
0.00535
|
|
NM_000218.3(KCNQ1):c.720C>T (p.His240=)
|
rs28730754
|
0.00524
|
|
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=)
|
rs61730051
|
0.00522
|
|
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)
|
rs35795890
|
0.00513
|
|
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)
|
rs45540831
|
0.00505
|
|
NM_004415.4(DSP):c.8481C>T (p.Ser2827=)
|
rs151029175
|
0.00494
|
|
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=)
|
rs140001300
|
0.00493
|
|
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)
|
rs9858585
|
0.00488
|
|
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val)
|
rs35176378
|
0.00480
|
|
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=)
|
rs45501694
|
0.00469
|
|
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp)
|
rs113964173
|
0.00462
|
|
NM_001035.3(RYR2):c.1863C>T (p.His621=)
|
rs17686573
|
0.00461
|
|
NM_000090.4(COL3A1):c.2022+5T>C
|
rs41263765
|
0.00448
|
|
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala)
|
rs28730756
|
0.00447
|
|
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=)
|
rs112864477
|
0.00446
|
|
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=)
|
rs41263751
|
0.00443
|
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
|
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)
|
rs142841727
|
0.00439
|
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
|
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=)
|
rs148147223
|
0.00436
|
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
|
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=)
|
rs35759441
|
0.00430
|
|
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu)
|
rs147315081
|
0.00427
|
|
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=)
|
rs142742483
|
0.00423
|
|
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)
|
rs147240502
|
0.00417
|
|
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=)
|
rs72549416
|
0.00413
|
|
NM_000335.5(SCN5A):c.717C>T (p.Ile239=)
|
rs41285129
|
0.00407
|
|
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys)
|
rs2230232
|
0.00406
|
|
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His)
|
rs201012766
|
0.00405
|
|
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=)
|
rs116601686
|
0.00399
|
|
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)
|
rs143906555
|
0.00397
|
|
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)
|
rs146882581
|
0.00396
|
|
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)
|
rs34580776
|
0.00376
|
|
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)
|
rs148197254
|
0.00374
|
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
|
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp)
|
rs144511230
|
0.00372
|
|
NM_001035.3(RYR2):c.13566C>T (p.Val4522=)
|
rs57360419
|
0.00366
|
|
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=)
|
rs17215493
|
0.00354
|
|
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val)
|
rs41313697
|
0.00352
|
|
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)
|
rs41313693
|
0.00351
|
|
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=)
|
rs45548237
|
0.00350
|
|
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)
|
rs41313703
|
0.00349
|
|
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=)
|
rs115854664
|
0.00333
|
|
NM_000138.5(FBN1):c.2678-15C>T
|
rs181681840
|
0.00324
|
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
|
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
0.00314
|
|
NM_002474.3(MYH11):c.5757C>T (p.Arg1919=)
|
rs138168272
|
0.00312
|
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
|
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=)
|
rs116442127
|
0.00308
|
|
NM_001613.4(ACTA2):c.417G>A (p.Gln139=)
|
rs111265233
|
0.00305
|
|
NM_000138.5(FBN1):c.2055C>T (p.Cys685=)
|
rs140603
|
0.00304
|
|
NM_000238.4(KCNH2):c.1128+1784C>T
|
rs371509270
|
0.00302
|
|
NM_024422.6(DSC2):c.1264-5C>T
|
rs183614856
|
0.00292
|
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
|
NM_001943.5(DSG2):c.2211C>T (p.Gly737=)
|
rs74578148
|
0.00288
|
|
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)
|
rs7861780
|
0.00288
|
|
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met)
|
rs79229040
|
0.00285
|
|
NM_001943.5(DSG2):c.2586T>C (p.Ser862=)
|
rs78310842
|
0.00284
|
|
NM_001035.3(RYR2):c.1218G>A (p.Ser406=)
|
rs147389346
|
0.00283
|
|
NM_001035.3(RYR2):c.3849A>G (p.Leu1283=)
|
rs143603583
|
0.00282
|
|
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=)
|
rs190537182
|
0.00281
|
|
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=)
|
rs114079815
|
0.00280
|
|
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=)
|
rs146858930
|
0.00277
|
|
NM_000257.4(MYH7):c.2162+4G>A
|
rs145738465
|
0.00276
|
|
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=)
|
rs61737803
|
0.00275
|
|
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=)
|
rs17850194
|
0.00273
|
|
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser)
|
rs77758574
|
0.00270
|
|
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=)
|
rs148516442
|
0.00268
|
|
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=)
|
rs3729821
|
0.00267
|
|
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=)
|
rs45489099
|
0.00267
|
|
NM_001005242.3(PKP2):c.819G>A (p.Pro273=)
|
rs3748279
|
0.00266
|
|
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=)
|
rs116774472
|
0.00265
|
|
NM_004415.4(DSP):c.7995G>A (p.Thr2665=)
|
rs35379048
|
0.00265
|
|
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=)
|
rs138073811
|
0.00264
|
|
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=)
|
rs144426409
|
0.00259
|
|
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=)
|
rs149566621
|
0.00257
|
|
NM_000238.4(KCNH2):c.3153-15C>T
|
rs41313755
|
0.00256
|
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
|
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=)
|
rs138498780
|
0.00254
|
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
|
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)
|
rs11570112
|
0.00247
|
|
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly)
|
rs139326669
|
0.00246
|
|
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)
|
rs41263757
|
0.00244
|
|
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=)
|
rs45437099
|
0.00242
|
|
NM_002474.3(MYH11):c.453G>A (p.Pro151=)
|
rs61734199
|
0.00242
|
|
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)
|
rs199821105
|
0.00240
|
|
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=)
|
rs113154524
|
0.00240
|
|
NM_001005242.3(PKP2):c.1171-11T>C
|
rs183414126
|
0.00239
|
|
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)
|
rs112592855
|
0.00231
|
|
NM_003242.6(TGFBR2):c.1525-8C>T
|
rs11466530
|
0.00230
|
|
NM_001005242.3(PKP2):c.939C>T (p.Ser313=)
|
rs61729381
|
0.00229
|
|
NM_001035.3(RYR2):c.6555+6G>A
|
rs372661934
|
0.00228
|
|
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=)
|
rs138573101
|
0.00226
|
|
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp)
|
rs3729799
|
0.00223
|
|
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
|
rs149617776
|
0.00223
|
|
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)
|
rs41261344
|
0.00222
|
|
NM_000257.4(MYH7):c.297C>T (p.Pro99=)
|
rs140245862
|
0.00220
|
|
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=)
|
rs147060179
|
0.00220
|
|
NM_002474.3(MYH11):c.3652-6C>T
|
rs193922630
|
0.00219
|
|
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=)
|
rs45554236
|
0.00217
|
|
NM_001943.5(DSG2):c.2484T>C (p.Asp828=)
|
rs201051252
|
0.00217
|
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00216
|
|
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)
|
rs142429411
|
0.00214
|
|
NM_170707.4(LMNA):c.1761G>A (p.Leu587=)
|
rs80356813
|
0.00210
|
|
NM_001005242.3(PKP2):c.972G>A (p.Ala324=)
|
rs142636176
|
0.00208
|
|
NM_000335.5(SCN5A):c.354C>T (p.His118=)
|
rs45533640
|
0.00207
|
|
NM_004612.4(TGFBR1):c.1152C>T (p.Leu384=)
|
rs115324990
|
0.00207
|
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
|
NM_000258.3(MYL3):c.130-14G>T
|
rs192329378
|
0.00198
|
|
NM_000363.5(TNNI3):c.273G>A (p.Ala91=)
|
rs75491697
|
0.00198
|
|
NM_004415.4(DSP):c.4383G>A (p.Glu1461=)
|
rs140029036
|
0.00197
|
|
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe)
|
rs141227126
|
0.00197
|
|
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=)
|
rs45522138
|
0.00196
|
|
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser)
|
rs150864240
|
0.00196
|
|
NM_001005242.3(PKP2):c.951G>A (p.Ala317=)
|
rs61729382
|
0.00195
|
|
NM_004415.4(DSP):c.1488G>A (p.Thr496=)
|
rs35820473
|
0.00195
|
|
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)
|
rs113194608
|
0.00194
|
|
NM_024422.6(DSC2):c.2616C>T (p.Cys872=)
|
rs61731920
|
0.00194
|
|
NM_001943.5(DSG2):c.6G>A (p.Ala2=)
|
rs368809971
|
0.00193
|
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
|
NM_000363.5(TNNI3):c.550-10C>T
|
rs201240150
|
0.00190
|
|
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser)
|
rs62001015
|
0.00189
|
|
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile)
|
rs11570052
|
0.00187
|
|
NM_004415.4(DSP):c.1206G>A (p.Lys402=)
|
rs150422458
|
0.00185
|
|
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val)
|
rs200509948
|
0.00184
|
|
NM_000257.4(MYH7):c.480C>T (p.Asn160=)
|
rs45500700
|
0.00178
|
|
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe)
|
rs45488304
|
0.00178
|
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
|
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)
|
rs35736435
|
0.00177
|
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
|
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)
|
rs200224422
|
0.00176
|
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
|
NM_001943.5(DSG2):c.1652-12C>T
|
rs140850369
|
0.00173
|
|
NM_002474.3(MYH11):c.1848C>T (p.Ala616=)
|
rs112834652
|
0.00172
|
|
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)
|
rs113667224
|
0.00171
|
|
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)
|
rs116541276
|
0.00169
|
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
|
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=)
|
rs140818646
|
0.00166
|
|
NM_000138.5(FBN1):c.2420-8T>C
|
rs140582
|
0.00163
|
|
NM_000090.4(COL3A1):c.130G>A (p.Val44Ile)
|
rs79632685
|
0.00162
|
|
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val)
|
rs2271683
|
0.00158
|
|
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=)
|
rs1800170
|
0.00158
|
|
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)
|
rs193922639
|
0.00158
|
|
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)
|
rs143189394
|
0.00158
|
|
NM_004415.4(DSP):c.1920C>T (p.Ile640=)
|
rs74806300
|
0.00156
|
|
NM_002474.3(MYH11):c.2961C>T (p.Ile987=)
|
rs137988790
|
0.00155
|
|
NM_000218.3(KCNQ1):c.478-8C>T
|
rs150711844
|
0.00150
|
|
NM_001035.3(RYR2):c.2301G>T (p.Ser767=)
|
rs117588730
|
0.00150
|
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
|
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=)
|
rs138167675
|
0.00150
|
|
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)
|
rs199789628
|
0.00148
|
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
|
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn)
|
rs151264959
|
0.00148
|
|
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala)
|
rs41263775
|
0.00146
|
|
NM_004612.4(TGFBR1):c.1387-14dup
|
rs863223800
|
0.00145
|
|
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe)
|
rs41313031
|
0.00144
|
|
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)
|
rs79474211
|
0.00144
|
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
|
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala)
|
rs139851304
|
0.00142
|
|
NM_000363.5(TNNI3):c.373-15C>G
|
rs192630178
|
0.00141
|
|
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=)
|
rs111422496
|
0.00140
|
|
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)
|
rs149070106
|
0.00139
|
|
NM_002474.3(MYH11):c.4578+3A>G
|
rs143288748
|
0.00138
|
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
|
NM_000257.4(MYH7):c.2358G>A (p.Thr786=)
|
rs36211714
|
0.00137
|
|
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg)
|
rs184218219
|
0.00137
|
|
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala)
|
rs79068489
|
0.00137
|
|
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)
|
rs148121889
|
0.00134
|
|
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=)
|
rs200799870
|
0.00134
|
|
NM_000258.3(MYL3):c.81T>C (p.Pro27=)
|
rs147584015
|
0.00133
|
|
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)
|
rs144256966
|
0.00132
|
|
NM_004415.4(DSP):c.3696C>A (p.Ser1232=)
|
rs141120358
|
0.00132
|
|
NM_000432.4(MYL2):c.279G>A (p.Ala93=)
|
rs28645088
|
0.00131
|
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
|
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr)
|
rs114544564
|
0.00130
|
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
|
NM_000138.5(FBN1):c.3463+3A>G
|
rs80344206
|
0.00128
|
|
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)
|
rs61729664
|
0.00128
|
|
NM_001943.5(DSG2):c.1875G>C (p.Leu625=)
|
rs35743180
|
0.00128
|
|
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=)
|
rs146436765
|
0.00126
|
|
NM_004415.4(DSP):c.2346C>T (p.Asp782=)
|
rs139071827
|
0.00126
|
|
NM_004415.4(DSP):c.522T>C (p.Cys174=)
|
rs144781697
|
0.00124
|
|
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)
|
rs193922628
|
0.00123
|
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
|
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)
|
rs11570082
|
0.00120
|
|
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=)
|
rs79811945
|
0.00119
|
|
NM_001035.3(RYR2):c.726C>T (p.Asp242=)
|
rs76380341
|
0.00119
|
|
NM_000335.5(SCN5A):c.4297-14T>C
|
rs56104887
|
0.00117
|
|
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=)
|
rs201916326
|
0.00117
|
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
|
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=)
|
rs76890940
|
0.00116
|
|
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser)
|
rs113577372
|
0.00115
|
|
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu)
|
rs41313681
|
0.00115
|
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
|
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile)
|
rs56014374
|
0.00115
|
|
NM_000335.5(SCN5A):c.1236C>T (p.Val412=)
|
rs45565936
|
0.00114
|
|
NM_001943.5(DSG2):c.2703A>G (p.Lys901=)
|
rs113591687
|
0.00114
|
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
|
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=)
|
rs143055643
|
0.00113
|
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00113
|
|
NM_001276345.2(TNNT2):c.610-106C>T
|
rs373805222
|
0.00113
|
|
NM_002474.3(MYH11):c.57C>T (p.Asn19=)
|
rs148464745
|
0.00111
|
|
NM_003242.6(TGFBR2):c.94+16245G>A
|
rs61732532
|
0.00111
|
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
|
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala)
|
rs45489199
|
0.00109
|
|
NM_004415.4(DSP):c.2986-6T>A
|
rs144748036
|
0.00108
|
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
|
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)
|
rs187705120
|
0.00106
|
|
NM_002474.3(MYH11):c.291C>T (p.Asn97=)
|
rs113363750
|
0.00106
|
|
NM_000432.4(MYL2):c.4-14del
|
rs531661702
|
0.00105
|
|
NM_001035.3(RYR2):c.1143C>T (p.Ser381=)
|
rs368844286
|
0.00105
|
|
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=)
|
rs199727625
|
0.00104
|
|
NM_001035.3(RYR2):c.1135G>A (p.Val379Met)
|
rs199693714
|
0.00104
|
|
NM_001943.5(DSG2):c.221A>G (p.His74Arg)
|
rs201855245
|
0.00104
|
|
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
|
rs139399951
|
0.00104
|
|
NM_001035.3(RYR2):c.1296C>A (p.Gly432=)
|
rs184176405
|
0.00103
|
|
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)
|
rs138329459
|
0.00103
|
|
NM_005902.4(SMAD3):c.316A>G (p.Met106Val)
|
rs138550573
|
0.00099
|
|
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe)
|
rs199473025
|
0.00098
|
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
|
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)
|
rs143011005
|
0.00097
|
|
NM_000238.4(KCNH2):c.1581G>A (p.Ala527=)
|
rs150275982
|
0.00096
|
|
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp)
|
rs193922382
|
0.00096
|
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
|
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=)
|
rs140584234
|
0.00094
|
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
|
NM_000090.4(COL3A1):c.1051-13G>A
|
rs371934572
|
0.00093
|
|
NM_002474.3(MYH11):c.3604G>A (p.Ala1202Thr)
|
rs112657320
|
0.00093
|
|
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=)
|
rs114556043
|
0.00093
|
|
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg)
|
rs568391206
|
0.00093
|
|
NM_001005242.3(PKP2):c.156G>A (p.Lys52=)
|
rs201210997
|
0.00092
|
|
NM_003242.6(TGFBR2):c.106A>G (p.Met36Val)
|
rs17025864
|
0.00092
|
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
|
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met)
|
rs75813654
|
0.00091
|
|
NM_000257.4(MYH7):c.930T>C (p.Tyr310=)
|
rs111626355
|
0.00091
|
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
|
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)
|
rs363831
|
0.00089
|
|
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser)
|
rs61746118
|
0.00089
|
|
NM_024334.3(TMEM43):c.163-6T>A
|
rs372434224
|
0.00088
|
|
NM_004415.4(DSP):c.7734C>T (p.Ser2578=)
|
rs28763970
|
0.00087
|
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
|
NM_001035.3(RYR2):c.828A>G (p.Arg276=)
|
rs180711819
|
0.00086
|
|
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=)
|
rs75648145
|
0.00085
|
|
NM_001035.3(RYR2):c.231G>A (p.Ala77=)
|
rs376225470
|
0.00084
|
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
0.00083
|
|
NM_000257.4(MYH7):c.1395C>T (p.Phe465=)
|
rs45508293
|
0.00082
|
|
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=)
|
rs112051451
|
0.00081
|
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
|
NM_000238.4(KCNH2):c.2398+178C>T
|
rs41314366
|
0.00080
|
|
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=)
|
rs181744522
|
0.00080
|
|
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser)
|
rs41314354
|
0.00079
|
|
NM_001018005.2(TPM1):c.115-262C>T
|
rs74573041
|
0.00079
|
|
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys)
|
rs111404182
|
0.00079
|
|
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly)
|
rs143342988
|
0.00079
|
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
|
NM_000257.4(MYH7):c.261C>T (p.Ile87=)
|
rs148560996
|
0.00078
|
|
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met)
|
rs111854563
|
0.00078
|
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00078
|
|
NM_000258.3(MYL3):c.559+6C>T
|
rs199474709
|
0.00077
|
|
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)
|
rs28763971
|
0.00077
|
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
|
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)
|
rs370890951
|
0.00076
|
|
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr)
|
rs201098973
|
0.00076
|
|
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly)
|
rs138753870
|
0.00076
|
|
NM_000335.5(SCN5A):c.2437-13C>T
|
rs45455099
|
0.00076
|
|
NM_000432.4(MYL2):c.36C>T (p.Gly12=)
|
rs139794370
|
0.00076
|
|
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=)
|
rs139881155
|
0.00075
|
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
|
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)
|
rs148478829
|
0.00073
|
|
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
|
rs200105499
|
0.00072
|
|
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=)
|
rs377283955
|
0.00071
|
|
NM_000257.4(MYH7):c.2553C>A (p.Ser851=)
|
rs144291282
|
0.00071
|
|
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)
|
rs1805125
|
0.00071
|
|
NM_001035.3(RYR2):c.1134C>T (p.Asp378=)
|
rs193922621
|
0.00071
|
|
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)
|
rs370996795
|
0.00071
|
|
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=)
|
rs138064129
|
0.00071
|
|
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu)
|
rs138438849
|
0.00070
|
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
|
NM_000335.5(SCN5A):c.5793G>A (p.Ala1931=)
|
rs200594132
|
0.00070
|
|
NM_001005242.3(PKP2):c.1379-2067G>A
|
rs138538072
|
0.00070
|
|
NM_001018005.2(TPM1):c.115-319C>G
|
rs201720832
|
0.00070
|
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
|
NM_000363.5(TNNI3):c.25-4C>T
|
rs202086705
|
0.00069
|
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00069
|
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
|
NM_002474.3(MYH11):c.1871G>A (p.Arg624His)
|
rs201991156
|
0.00068
|
|
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe)
|
rs143040393
|
0.00068
|
|
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser)
|
rs200381100
|
0.00067
|
|
NM_000238.4(KCNH2):c.1353G>A (p.Pro451=)
|
rs763446458
|
0.00067
|
|
NM_004415.4(DSP):c.782C>T (p.Ala261Val)
|
rs139509870
|
0.00067
|
|
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)
|
rs45563942
|
0.00066
|
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00066
|
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
|
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=)
|
rs144465613
|
0.00064
|
|
NM_000335.5(SCN5A):c.630G>A (p.Val210=)
|
rs193922727
|
0.00064
|
|
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys)
|
rs199473505
|
0.00063
|
|
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00063
|
|
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=)
|
rs138294643
|
0.00063
|
|
NM_000257.4(MYH7):c.3973-12A>C
|
rs773718222
|
0.00063
|
|
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)
|
rs199473316
|
0.00063
|
|
NM_001035.3(RYR2):c.1110A>G (p.Leu370=)
|
rs150705689
|
0.00063
|
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
|
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=)
|
rs368930040
|
0.00063
|
|
NM_001035.3(RYR2):c.615C>T (p.Ala205=)
|
rs112680790
|
0.00063
|
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00063
|
|
NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met)
|
rs34516117
|
0.00062
|
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
|
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)
|
rs111391222
|
0.00061
|
|
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)
|
rs138776684
|
0.00061
|
|
NM_000257.4(MYH7):c.1230C>T (p.Tyr410=)
|
rs150885220
|
0.00061
|
|
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)
|
rs202015519
|
0.00061
|
|
NM_001943.5(DSG2):c.852T>C (p.Asn284=)
|
rs62095193
|
0.00061
|
|
NM_002474.3(MYH11):c.2049C>T (p.His683=)
|
rs150924100
|
0.00061
|
|
NM_002474.3(MYH11):c.3196G>A (p.Asp1066Asn)
|
rs200315340
|
0.00061
|
|
NM_024422.6(DSC2):c.2498G>A (p.Arg833His)
|
rs370325533
|
0.00061
|
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
0.00060
|
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
|
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
|
rs148185335
|
0.00060
|
|
NM_000090.4(COL3A1):c.3202-14del
|
rs767971610
|
0.00059
|
|
NM_001035.3(RYR2):c.11092-10A>T
|
rs577119352
|
0.00059
|
|
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=)
|
rs200663253
|
0.00058
|
|
NM_000257.4(MYH7):c.2514G>A (p.Pro838=)
|
rs45560638
|
0.00058
|
|
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)
|
rs113422365
|
0.00058
|
|
NM_000335.5(SCN5A):c.568C>G (p.Arg190Gly)
|
rs199473068
|
0.00057
|
|
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)
|
rs202176504
|
0.00057
|
|
NM_002474.3(MYH11):c.12G>A (p.Lys4=)
|
rs112650390
|
0.00057
|
|
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=)
|
rs760611400
|
0.00057
|
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
|
NM_002474.3(MYH11):c.2649G>A (p.Ser883=)
|
rs150943863
|
0.00056
|
|
NM_002474.3(MYH11):c.429G>A (p.Lys143=)
|
rs200672270
|
0.00056
|
|
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)
|
rs61746358
|
0.00056
|
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
|
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=)
|
rs368221517
|
0.00055
|
|
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
|
rs34239595
|
0.00055
|
|
NM_000090.4(COL3A1):c.114C>G (p.Ser38=)
|
rs141241764
|
0.00054
|
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
|
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=)
|
rs138574576
|
0.00054
|
|
NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=)
|
rs144985256
|
0.00054
|
|
NM_000257.4(MYH7):c.3777C>T (p.His1259=)
|
rs149103761
|
0.00054
|
|
NM_001943.5(DSG2):c.*2C>T
|
rs183494886
|
0.00054
|
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
|
NM_016203.4(PRKAG2):c.472G>A (p.Gly158Ser)
|
rs727504512
|
0.00054
|
|
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=)
|
rs149790711
|
0.00053
|
|
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=)
|
rs148024160
|
0.00053
|
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
|
NM_000335.5(SCN5A):c.895T>A (p.Leu299Met)
|
rs199473087
|
0.00053
|
|
NM_001005242.3(PKP2):c.1379-2054C>T
|
rs144620127
|
0.00053
|
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
|
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)
|
rs112861184
|
0.00053
|
|
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu)
|
rs144045691
|
0.00052
|
|
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val)
|
rs111936548
|
0.00052
|
|
NM_024422.6(DSC2):c.1901G>A (p.Arg634His)
|
rs200475862
|
0.00052
|
|
NM_000256.3(MYBPC3):c.440C>T (p.Pro147Leu)
|
rs730880615
|
0.00051
|
|
NM_001005242.3(PKP2):c.2168-6T>C
|
rs368531764
|
0.00051
|
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
|
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=)
|
rs370297602
|
0.00051
|
|
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)
|
rs200236750
|
0.00051
|
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
|
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr)
|
rs200736454
|
0.00051
|
|
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=)
|
rs34781844
|
0.00050
|
|
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=)
|
rs137887424
|
0.00050
|
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
|
NM_001005242.3(PKP2):c.1379-2109G>A
|
rs139159464
|
0.00050
|
|
NM_002474.3(MYH11):c.4177G>C (p.Gly1393Arg)
|
rs143620567
|
0.00050
|
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
|
NM_000218.3(KCNQ1):c.984C>T (p.Ile328=)
|
rs140019543
|
0.00049
|
|
NM_000257.4(MYH7):c.2907C>T (p.His969=)
|
rs142573531
|
0.00049
|
|
NM_000335.5(SCN5A):c.553G>A (p.Ala185Thr)
|
rs192113333
|
0.00049
|
|
NM_001005242.3(PKP2):c.1379-2019C>T
|
rs149930872
|
0.00049
|
|
NM_001035.3(RYR2):c.9450-3T>C
|
rs188671846
|
0.00049
|
|
NM_000258.3(MYL3):c.482-14C>A
|
rs201780962
|
0.00048
|
|
NM_000335.5(SCN5A):c.1335C>T (p.His445=)
|
rs368045716
|
0.00048
|
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
|
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)
|
rs3729712
|
0.00048
|
|
NM_001035.3(RYR2):c.10231-4T>C
|
rs117180147
|
0.00048
|
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
|
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu)
|
rs150033906
|
0.00048
|
|
NM_170707.4(LMNA):c.1911C>T (p.Phe637=)
|
rs117939448
|
0.00048
|
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
|
NM_000218.3(KCNQ1):c.972C>T (p.Val324=)
|
rs554518844
|
0.00047
|
|
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp)
|
rs193068692
|
0.00047
|
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
|
NM_004415.4(DSP):c.8019C>T (p.Asp2673=)
|
rs144275591
|
0.00047
|
|
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser)
|
rs371513491
|
0.00046
|
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00046
|
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00046
|
|
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)
|
rs373282364
|
0.00046
|
|
NM_001035.3(RYR2):c.7233C>T (p.Ala2411=)
|
rs367994477
|
0.00046
|
|
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=)
|
rs112990531
|
0.00046
|
|
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro)
|
rs149141477
|
0.00046
|
|
NM_004415.4(DSP):c.8301C>G (p.Thr2767=)
|
rs145362059
|
0.00046
|
|
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe)
|
rs144152046
|
0.00046
|
|
NM_000090.4(COL3A1):c.1476A>C (p.Gly492=)
|
rs111683983
|
0.00045
|
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00045
|
|
NM_024334.3(TMEM43):c.516C>T (p.Ala172=)
|
rs148432515
|
0.00045
|
|
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)
|
rs142410803
|
0.00045
|
|
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=)
|
rs1005074
|
0.00044
|
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
|
NM_024334.3(TMEM43):c.279C>T (p.Gly93=)
|
rs149883381
|
0.00044
|
|
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly)
|
rs200342067
|
0.00043
|
|
NM_000138.5(FBN1):c.645A>C (p.Arg215=)
|
rs200062771
|
0.00043
|
|
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=)
|
rs200162906
|
0.00043
|
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00043
|
|
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=)
|
rs138870926
|
0.00043
|
|
NM_001035.3(RYR2):c.1053A>G (p.Thr351=)
|
rs187565743
|
0.00043
|
|
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=)
|
rs374606415
|
0.00043
|
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
|
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=)
|
rs200285003
|
0.00042
|
|
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)
|
rs149929637
|
0.00042
|
|
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=)
|
rs189991547
|
0.00041
|
|
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu)
|
rs199473320
|
0.00041
|
|
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile)
|
rs45471994
|
0.00041
|
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
|
NM_001018005.2(TPM1):c.115-331C>T
|
rs562829514
|
0.00041
|
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
|
NM_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
|
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)
|
rs142803672
|
0.00041
|
|
NM_016203.4(PRKAG2):c.946+3A>G
|
rs376173303
|
0.00041
|
|
NM_024334.3(TMEM43):c.45C>A (p.Val15=)
|
rs150334659
|
0.00041
|
|
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)
|
rs150264233
|
0.00040
|
|
NM_002474.3(MYH11):c.3776C>T (p.Ala1259Val)
|
rs138623948
|
0.00040
|
|
NM_005159.5(ACTC1):c.219C>T (p.Ile73=)
|
rs376566924
|
0.00040
|
|
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser)
|
rs181834806
|
0.00039
|
|
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)
|
rs144536197
|
0.00039
|
|
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=)
|
rs371931287
|
0.00039
|
|
NM_001943.5(DSG2):c.121C>A (p.His41Asn)
|
rs201499704
|
0.00039
|
|
NM_002474.3(MYH11):c.5296-10T>C
|
rs111858392
|
0.00039
|
|
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)
|
rs146024732
|
0.00039
|
|
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)
|
rs56105708
|
0.00039
|
|
NM_004415.4(DSP):c.4500G>T (p.Leu1500=)
|
rs372881903
|
0.00039
|
|
NM_005902.4(SMAD3):c.66G>A (p.Glu22=)
|
rs187952791
|
0.00039
|
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
|
NM_000218.3(KCNQ1):c.1860C>T (p.His620=)
|
rs139893266
|
0.00038
|
|
NM_000238.4(KCNH2):c.1128+1865C>T
|
rs200324802
|
0.00038
|
|
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp)
|
rs370338674
|
0.00038
|
|
NM_000257.4(MYH7):c.3690C>T (p.Asp1230=)
|
rs370750044
|
0.00038
|
|
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met)
|
rs199473600
|
0.00038
|
|
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)
|
rs199474808
|
0.00038
|
|
NM_001035.3(RYR2):c.10381A>G (p.Met3461Val)
|
rs147512481
|
0.00038
|
|
NM_001035.3(RYR2):c.11246-11del
|
rs397516503
|
0.00038
|
|
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=)
|
rs397516505
|
0.00038
|
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
|
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
|
rs199681901
|
0.00038
|
|
NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp)
|
rs200264407
|
0.00038
|
|
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
|
NM_004415.4(DSP):c.688G>A (p.Asp230Asn)
|
rs147315869
|
0.00038
|
|
NM_005902.4(SMAD3):c.483C>T (p.Pro161=)
|
rs202203039
|
0.00038
|
|
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)
|
rs147091980
|
0.00037
|
|
NM_000238.4(KCNH2):c.2900C>T (p.Pro967Leu)
|
rs199473016
|
0.00037
|
|
NM_001943.5(DSG2):c.716T>C (p.Val239Ala)
|
rs200997703
|
0.00037
|
|
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)
|
rs184154918
|
0.00037
|
|
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met)
|
rs143709408
|
0.00036
|
|
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val)
|
rs370412052
|
0.00036
|
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
|
NM_000256.3(MYBPC3):c.906-7G>T
|
rs397516079
|
0.00036
|
|
NM_000257.4(MYH7):c.2349C>T (p.Arg783=)
|
rs139882431
|
0.00036
|
|
NM_002474.3(MYH11):c.471C>T (p.Ile157=)
|
rs140267000
|
0.00036
|
|
NM_002474.3(MYH11):c.5271C>A (p.Asp1757Glu)
|
rs146043349
|
0.00036
|
|
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr)
|
rs147710374
|
0.00036
|
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
|
NM_004415.4(DSP):c.6319G>C (p.Val2107Leu)
|
rs144263721
|
0.00036
|
|
NM_004415.4(DSP):c.8199G>C (p.Thr2733=)
|
rs145085696
|
0.00036
|
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
|
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln)
|
rs201953758
|
0.00036
|
|
NM_024334.3(TMEM43):c.777C>T (p.His259=)
|
rs143958148
|
0.00036
|
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
|
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)
|
rs200352299
|
0.00035
|
|
NM_000257.4(MYH7):c.2334C>T (p.Asp778=)
|
rs2069544
|
0.00035
|
|
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser)
|
rs148791216
|
0.00035
|
|
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)
|
rs150425166
|
0.00035
|
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
|
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=)
|
rs113022801
|
0.00034
|
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
|
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)
|
rs141122361
|
0.00034
|
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
|
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=)
|
rs376826051
|
0.00034
|
|
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=)
|
rs142362933
|
0.00034
|
|
NM_001035.3(RYR2):c.463+6dup
|
rs397516534
|
0.00034
|
|
NM_001035.3(RYR2):c.7925G>A (p.Arg2642Lys)
|
rs377473366
|
0.00034
|
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
|
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)
|
rs113967308
|
0.00034
|
|
NM_024422.6(DSC2):c.174T>C (p.Phe58=)
|
rs150792047
|
0.00034
|
|
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)
|
rs369704754
|
0.00033
|
|
NM_002474.3(MYH11):c.1989G>A (p.Lys663=)
|
rs138581000
|
0.00033
|
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00033
|
|
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)
|
rs147415451
|
0.00033
|
|
NM_000238.4(KCNH2):c.2398+234C>T
|
rs370393086
|
0.00032
|
|
NM_000256.3(MYBPC3):c.1863C>T (p.Phe621=)
|
rs193922378
|
0.00032
|
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
|
NM_000335.5(SCN5A):c.858G>A (p.Ala286=)
|
rs368460145
|
0.00032
|
|
NM_000432.4(MYL2):c.342G>A (p.Leu114=)
|
rs199572927
|
0.00032
|
|
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro)
|
rs202063433
|
0.00032
|
|
NM_002474.3(MYH11):c.3669C>T (p.Asp1223=)
|
rs111940956
|
0.00032
|
|
NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile)
|
rs138206921
|
0.00032
|
|
NM_003242.6(TGFBR2):c.1525-7G>A
|
rs377499122
|
0.00032
|
|
NM_004415.4(DSP):c.531C>G (p.Gly177=)
|
rs138865799
|
0.00032
|
|
NM_024422.6(DSC2):c.1269G>A (p.Leu423=)
|
rs376049846
|
0.00032
|
|
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
|
rs143007898
|
0.00031
|
|
NM_000335.5(SCN5A):c.456C>T (p.Asp152=)
|
rs190803993
|
0.00031
|
|
NM_001018005.2(TPM1):c.177A>G (p.Lys59=)
|
rs149346709
|
0.00031
|
|
NM_001035.3(RYR2):c.11092-6A>T
|
rs397516501
|
0.00031
|
|
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met)
|
rs201829896
|
0.00031
|
|
NM_001035.3(RYR2):c.3067-16_3067-15del
|
rs727504453
|
0.00031
|
|
NM_001035.3(RYR2):c.774-14G>T
|
rs370114411
|
0.00031
|
|
NM_001276345.2(TNNT2):c.720-13_720-11del
|
rs397516480
|
0.00031
|
|
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu)
|
rs35035518
|
0.00031
|
|
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser)
|
rs113696032
|
0.00031
|
|
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val)
|
rs142654744
|
0.00031
|
|
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu)
|
rs148621523
|
0.00031
|
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
|
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=)
|
rs144420313
|
0.00030
|
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
|
NM_000335.5(SCN5A):c.4932G>A (p.Thr1644=)
|
rs376150162
|
0.00030
|
|
NM_001005242.3(PKP2):c.1863G>A (p.Pro621=)
|
rs146144731
|
0.00030
|
|
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser)
|
rs201081663
|
0.00030
|
|
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=)
|
rs184402915
|
0.00029
|
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
|
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=)
|
rs72549418
|
0.00029
|
|
NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=)
|
rs199767579
|
0.00029
|
|
NM_000238.4(KCNH2):c.3366G>A (p.Pro1122=)
|
rs371473271
|
0.00029
|
|
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=)
|
rs36212064
|
0.00029
|
|
NM_000257.4(MYH7):c.5725C>A (p.Arg1909=)
|
rs146796870
|
0.00029
|
|
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)
|
rs199473183
|
0.00029
|
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
|
NM_001018005.2(TPM1):c.375-5T>C
|
rs377061868
|
0.00029
|
|
NM_001018005.2(TPM1):c.563+313A>G
|
rs144700226
|
0.00029
|
|
NM_001018005.2(TPM1):c.851+6C>T
|
rs375043184
|
0.00029
|
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
|
NM_002474.3(MYH11):c.1502G>A (p.Arg501His)
|
rs144244239
|
0.00029
|
|
NM_004415.4(DSP):c.5991G>A (p.Gly1997=)
|
rs538244495
|
0.00029
|
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812
|
0.00029
|
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
|
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg)
|
rs199473669
|
0.00028
|
|
NM_000238.4(KCNH2):c.2730G>A (p.Pro910=)
|
rs916754925
|
0.00028
|
|
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=)
|
rs370945942
|
0.00028
|
|
NM_001035.3(RYR2):c.10231-5C>T
|
rs186326951
|
0.00028
|
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
|
NM_002474.3(MYH11):c.1512C>T (p.Ile504=)
|
rs149630866
|
0.00028
|
|
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val)
|
rs148893135
|
0.00028
|
|
NM_170707.4(LMNA):c.192C>T (p.Thr64=)
|
rs137969290
|
0.00028
|
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
|
NM_000335.5(SCN5A):c.4785C>T (p.Phe1595=)
|
rs141789366
|
0.00027
|
|
NM_004415.4(DSP):c.1154C>T (p.Ala385Val)
|
rs146737031
|
0.00027
|
|
NM_000138.5(FBN1):c.2187A>C (p.Leu729=)
|
rs61730055
|
0.00026
|
|
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=)
|
rs145040593
|
0.00026
|
|
NM_000138.5(FBN1):c.539-15del
|
rs193922211
|
0.00026
|
|
NM_000138.5(FBN1):c.5423-4G>A
|
rs377036485
|
0.00026
|
|
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)
|
rs138498207
|
0.00026
|
|
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)
|
rs397515922
|
0.00026
|
|
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln)
|
rs199473331
|
0.00026
|
|
NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala)
|
rs144651139
|
0.00026
|
|
NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser)
|
rs776091285
|
0.00026
|
|
NM_001035.3(RYR2):c.8831-9A>C
|
rs187977513
|
0.00026
|
|
NM_002474.3(MYH11):c.3294-13C>G
|
rs143110271
|
0.00026
|
|
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=)
|
rs113302393
|
0.00026
|
|
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser)
|
rs185661462
|
0.00026
|
|
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=)
|
rs146030104
|
0.00026
|
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
|
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
|
rs116888866
|
0.00026
|
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
|
NM_005902.4(SMAD3):c.207-11C>T
|
rs148430981
|
0.00026
|
|
NM_024422.6(DSC2):c.631-13dup
|
rs551337657
|
0.00026
|
|
NM_000138.5(FBN1):c.7338C>T (p.Asn2446=)
|
rs140178192
|
0.00025
|
|
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)
|
rs145229963
|
0.00025
|
|
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile)
|
rs376504548
|
0.00025
|
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
|
NM_000432.4(MYL2):c.275-14G>C
|
rs375703502
|
0.00025
|
|
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)
|
rs367992907
|
0.00025
|
|
NM_001035.3(RYR2):c.6689-12T>C
|
rs370972311
|
0.00025
|
|
NM_001035.3(RYR2):c.8204A>C (p.Asp2735Ala)
|
rs1213772557
|
0.00025
|
|
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln)
|
rs148938946
|
0.00025
|
|
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)
|
rs146228576
|
0.00025
|
|
NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn)
|
rs370550974
|
0.00025
|
|
NM_004415.4(DSP):c.7848G>A (p.Ser2616=)
|
rs148798300
|
0.00025
|
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
|
NM_005902.4(SMAD3):c.747C>T (p.His249=)
|
rs139907582
|
0.00025
|
|
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala)
|
rs139579816
|
0.00025
|
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
|
NM_000138.5(FBN1):c.2678-12T>C
|
rs200368037
|
0.00024
|
|
NM_000138.5(FBN1):c.8445C>T (p.Leu2815=)
|
rs142304692
|
0.00024
|
|
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)
|
rs199472820
|
0.00024
|
|
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)
|
rs200625851
|
0.00024
|
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
|
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly)
|
rs199473113
|
0.00024
|
|
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)
|
rs377293019
|
0.00024
|
|
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=)
|
rs750335699
|
0.00024
|
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00024
|
|
NM_001943.5(DSG2):c.2913T>G (p.Ala971=)
|
rs200793530
|
0.00024
|
|
NM_001943.5(DSG2):c.2938G>A (p.Ala980Thr)
|
rs1387453473
|
0.00024
|
|
NM_002474.3(MYH11):c.120G>A (p.Ser40=)
|
rs144275008
|
0.00024
|
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
|
NM_004415.4(DSP):c.6381C>T (p.Ala2127=)
|
rs146315412
|
0.00024
|
|
NM_004612.4(TGFBR1):c.810T>C (p.Asn270=)
|
rs147388628
|
0.00024
|
|
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His)
|
rs116911972
|
0.00024
|
|
NM_024334.3(TMEM43):c.564C>T (p.Gly188=)
|
rs143124744
|
0.00024
|
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
|
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu)
|
rs199473436
|
0.00023
|
|
NM_000335.5(SCN5A):c.496G>A (p.Ala166Thr)
|
rs201232332
|
0.00023
|
|
NM_000335.5(SCN5A):c.5182G>A (p.Asp1728Asn)
|
rs763880032
|
0.00023
|
|
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)
|
rs202020477
|
0.00023
|
|
NM_004415.4(DSP):c.2794-4dup
|
rs397516924
|
0.00023
|
|
NM_016203.4(PRKAG2):c.1585-4G>A
|
rs373649956
|
0.00023
|
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
|
NM_000238.4(KCNH2):c.1946-9C>T
|
rs367997739
|
0.00022
|
|
NM_000238.4(KCNH2):c.2398+16C>T
|
rs201873431
|
0.00022
|
|
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly)
|
rs76649554
|
0.00022
|
|
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile)
|
rs149955375
|
0.00022
|
|
NM_000256.3(MYBPC3):c.3228C>T (p.Asp1076=)
|
rs369999866
|
0.00022
|
|
NM_001005242.3(PKP2):c.198G>A (p.Arg66=)
|
rs144106848
|
0.00022
|
|
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
|
NM_002474.3(MYH11):c.4579-13G>A
|
rs181115969
|
0.00022
|
|
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=)
|
rs192662552
|
0.00022
|
|
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val)
|
rs148176750
|
0.00022
|
|
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=)
|
rs145023222
|
0.00022
|
|
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)
|
rs199918720
|
0.00022
|
|
NM_000090.4(COL3A1):c.799-11A>T
|
rs200148262
|
0.00021
|
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
|
NM_000238.4(KCNH2):c.441C>T (p.His147=)
|
rs143479939
|
0.00021
|
|
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)
|
rs397515985
|
0.00021
|
|
NM_000257.4(MYH7):c.5656-9C>T
|
rs781212482
|
0.00021
|
|
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00021
|
|
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val)
|
rs199473192
|
0.00021
|
|
NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=)
|
rs372328054
|
0.00021
|
|
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)
|
rs199473603
|
0.00021
|
|
NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile)
|
rs199473618
|
0.00021
|
|
NM_001018005.2(TPM1):c.115-214C>G
|
rs947201175
|
0.00021
|
|
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg)
|
rs371934474
|
0.00021
|
|
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)
|
rs369917806
|
0.00021
|
|
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)
|
rs200121281
|
0.00021
|
|
NM_001035.3(RYR2):c.2613+4C>G
|
rs371880082
|
0.00021
|
|
NM_001035.3(RYR2):c.577-14G>A
|
rs148019277
|
0.00021
|
|
NM_001276345.2(TNNT2):c.200-11A>G
|
rs368658464
|
0.00021
|
|
NM_002474.3(MYH11):c.1078G>A (p.Val360Ile)
|
rs111677442
|
0.00021
|
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
|
NM_002474.3(MYH11):c.4533C>T (p.Ala1511=)
|
rs181548582
|
0.00021
|
|
NM_002474.3(MYH11):c.4663C>T (p.Leu1555=)
|
rs202231621
|
0.00021
|
|
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=)
|
rs140662877
|
0.00021
|
|
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)
|
rs565502802
|
0.00021
|
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
|
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr)
|
rs762561997
|
0.00021
|
|
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met)
|
rs148056866
|
0.00021
|
|
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=)
|
rs141675061
|
0.00021
|
|
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln)
|
rs143535006
|
0.00021
|
|
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr)
|
rs139590716
|
0.00021
|
|
NM_024422.6(DSC2):c.2546A>C (p.His849Pro)
|
rs184487763
|
0.00021
|
|
NM_024422.6(DSC2):c.348A>G (p.Gln116=)
|
rs137941742
|
0.00021
|
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
|
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln)
|
rs199472781
|
0.00020
|
|
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn)
|
rs376736293
|
0.00020
|
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
|
NM_001035.3(RYR2):c.13303A>G (p.Thr4435Ala)
|
rs374019555
|
0.00020
|
|
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=)
|
rs368971586
|
0.00020
|
|
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)
|
rs202040519
|
0.00020
|
|
NM_002474.3(MYH11):c.1034-12T>G
|
rs184847335
|
0.00020
|
|
NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp)
|
rs143402648
|
0.00020
|
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
|
NM_016203.4(PRKAG2):c.313G>A (p.Val105Met)
|
rs397517269
|
0.00020
|
|
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)
|
rs2229326
|
0.00019
|
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
|
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)
|
rs25397
|
0.00019
|
|
NM_000238.4(KCNH2):c.1923C>T (p.Ser641=)
|
rs142249065
|
0.00019
|
|
NM_000256.3(MYBPC3):c.207G>C (p.Arg69=)
|
rs397515946
|
0.00019
|
|
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His)
|
rs372628478
|
0.00019
|
|
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe)
|
rs375776406
|
0.00019
|
|
NM_000256.3(MYBPC3):c.3276C>T (p.Val1092=)
|
rs376344765
|
0.00019
|
|
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=)
|
rs367927327
|
0.00019
|
|
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr)
|
rs373946195
|
0.00019
|
|
NM_000257.4(MYH7):c.5412C>G (p.Ala1804=)
|
rs147433856
|
0.00019
|
|
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu)
|
rs45609733
|
0.00019
|
|
NM_000335.5(SCN5A):c.3228+6C>G
|
rs368048551
|
0.00019
|
|
NM_000335.5(SCN5A):c.998+5G>A
|
rs187531872
|
0.00019
|
|
NM_001035.3(RYR2):c.1006-12C>T
|
rs367998175
|
0.00019
|
|
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=)
|
rs566157997
|
0.00019
|
|
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00019
|
|
NM_002474.3(MYH11):c.5172-13G>A
|
rs373378619
|
0.00019
|
|
NM_003242.6(TGFBR2):c.678C>T (p.Asp226=)
|
rs147111149
|
0.00019
|
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
|
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe)
|
rs764692193
|
0.00019
|
|
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)
|
rs370093129
|
0.00019
|
|
NM_004415.4(DSP):c.6351T>C (p.Asp2117=)
|
rs148743859
|
0.00019
|
|
NM_004415.4(DSP):c.8415C>T (p.Ala2805=)
|
rs377148997
|
0.00019
|
|
NM_004415.4(DSP):c.961G>C (p.Val321Leu)
|
rs143994626
|
0.00019
|
|
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=)
|
rs145033378
|
0.00019
|
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
|
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=)
|
rs397517263
|
0.00019
|
|
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)
|
rs111567071
|
0.00018
|
|
NM_000138.5(FBN1):c.228C>T (p.Gly76=)
|
rs141651917
|
0.00018
|
|
NM_000138.5(FBN1):c.3590-8T>C
|
rs140600
|
0.00018
|
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
|
NM_000138.5(FBN1):c.76G>C (p.Asp26His)
|
rs146267697
|
0.00018
|
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
|
NM_000218.3(KCNQ1):c.605-11G>A
|
rs200828849
|
0.00018
|
|
NM_000238.4(KCNH2):c.1128+1811G>A
|
rs41313083
|
0.00018
|
|
NM_000256.3(MYBPC3):c.407-5C>T
|
rs371312567
|
0.00018
|
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
|
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met)
|
rs199473333
|
0.00018
|
|
NM_001035.3(RYR2):c.11116G>A (p.Asp3706Asn)
|
rs942040362
|
0.00018
|
|
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=)
|
rs727505215
|
0.00018
|
|
NM_001035.3(RYR2):c.3408C>A (p.Ala1136=)
|
rs371248758
|
0.00018
|
|
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)
|
rs564806219
|
0.00018
|
|
NM_002474.3(MYH11):c.2850G>A (p.Gln950=)
|
rs764706995
|
0.00018
|
|
NM_002474.3(MYH11):c.6G>A (p.Ala2=)
|
rs762011909
|
0.00018
|
|
NM_003242.6(TGFBR2):c.984C>T (p.His328=)
|
rs193922666
|
0.00018
|
|
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)
|
rs188516326
|
0.00018
|
|
NM_024422.6(DSC2):c.135C>T (p.Ala45=)
|
rs749323567
|
0.00018
|
|
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val)
|
rs367990772
|
0.00018
|
|
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=)
|
rs779774302
|
0.00017
|
|
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)
|
rs371583734
|
0.00017
|
|
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met)
|
rs200125037
|
0.00017
|
|
NM_000138.5(FBN1):c.6342A>C (p.Gly2114=)
|
rs374705586
|
0.00017
|
|
NM_000238.4(KCNH2):c.3321G>A (p.Ser1107=)
|
rs189457419
|
0.00017
|
|
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile)
|
rs373519667
|
0.00017
|
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
|
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln)
|
rs369678002
|
0.00017
|
|
NM_000335.5(SCN5A):c.80G>A (p.Arg27His)
|
rs199473045
|
0.00017
|
|
NM_001005242.3(PKP2):c.928G>A (p.Val310Met)
|
rs768396351
|
0.00017
|
|
NM_001035.3(RYR2):c.4761C>T (p.His1587=)
|
rs369612535
|
0.00017
|
|
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00017
|
|
NM_002474.3(MYH11):c.1212G>C (p.Gly404=)
|
rs201198815
|
0.00017
|
|
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=)
|
rs149980738
|
0.00017
|
|
NM_004415.4(DSP):c.2121C>T (p.Asn707=)
|
rs368590198
|
0.00017
|
|
NM_004415.4(DSP):c.3153C>T (p.Asn1051=)
|
rs563387839
|
0.00017
|
|
NM_024334.3(TMEM43):c.443-9C>T
|
rs371866082
|
0.00017
|
|
NM_000090.4(COL3A1):c.1617C>T (p.Pro539=)
|
rs141091206
|
0.00016
|
|
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=)
|
rs112164939
|
0.00016
|
|
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)
|
rs140890215
|
0.00016
|
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
|
NM_000138.5(FBN1):c.6380-3A>G
|
rs567703513
|
0.00016
|
|
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu)
|
rs146469379
|
0.00016
|
|
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp)
|
rs140452381
|
0.00016
|
|
NM_000218.3(KCNQ1):c.1926C>T (p.Cys642=)
|
rs12720454
|
0.00016
|
|
NM_000238.4(KCNH2):c.431A>T (p.Asp144Val)
|
rs146284716
|
0.00016
|
|
NM_000238.4(KCNH2):c.432C>T (p.Asp144=)
|
rs369314508
|
0.00016
|
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
|
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=)
|
rs376041792
|
0.00016
|
|
NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met)
|
rs199893357
|
0.00016
|
|
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=)
|
rs372502369
|
0.00016
|
|
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)
|
rs45523233
|
0.00016
|
|
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)
|
rs137854617
|
0.00016
|
|
NM_000335.5(SCN5A):c.5334G>A (p.Thr1778=)
|
rs41311121
|
0.00016
|
|
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His)
|
rs137854610
|
0.00016
|
|
NM_000335.5(SCN5A):c.5478C>T (p.Ile1826=)
|
rs138892850
|
0.00016
|
|
NM_001005242.3(PKP2):c.1379-2068C>T
|
rs377424658
|
0.00016
|
|
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr)
|
rs368740836
|
0.00016
|
|
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met)
|
rs143038626
|
0.00016
|
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00016
|
|
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr)
|
rs139215336
|
0.00016
|
|
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)
|
rs547005691
|
0.00016
|
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
|
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)
|
rs201131315
|
0.00016
|
|
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)
|
rs201079716
|
0.00016
|
|
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)
|
rs373024059
|
0.00016
|
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
|
NM_001035.3(RYR2):c.7075C>A (p.Arg2359=)
|
rs200921429
|
0.00016
|
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
|
NM_001035.3(RYR2):c.8592A>G (p.Gly2864=)
|
rs763801208
|
0.00016
|
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00016
|
|
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser)
|
rs121913010
|
0.00016
|
|
NM_001943.5(DSG2):c.783T>A (p.Arg261=)
|
rs369869320
|
0.00016
|
|
NM_002474.3(MYH11):c.2541G>A (p.Val847=)
|
rs373920725
|
0.00016
|
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
|
NM_002474.3(MYH11):c.3309C>T (p.Ile1103=)
|
rs370854451
|
0.00016
|
|
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val)
|
rs185720909
|
0.00016
|
|
NM_002474.3(MYH11):c.4659C>T (p.Asp1553=)
|
rs141031021
|
0.00016
|
|
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=)
|
rs771742318
|
0.00016
|
|
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser)
|
rs145650440
|
0.00016
|
|
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)
|
rs141834182
|
0.00016
|
|
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly)
|
rs377098318
|
0.00016
|
|
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg)
|
rs200421954
|
0.00016
|
|
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)
|
rs146642551
|
0.00016
|
|
NM_004415.4(DSP):c.7599T>C (p.Ala2533=)
|
rs374266378
|
0.00016
|
|
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser)
|
rs369682599
|
0.00016
|
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
|
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=)
|
rs200062984
|
0.00016
|
|
NM_005159.5(ACTC1):c.141G>T (p.Val47=)
|
rs1409682416
|
0.00016
|
|
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)
|
rs202094530
|
0.00016
|
|
NM_005902.4(SMAD3):c.687G>A (p.Pro229=)
|
rs138940179
|
0.00016
|
|
NM_005902.4(SMAD3):c.984G>A (p.Pro328=)
|
rs150994304
|
0.00016
|
|
NM_016203.4(PRKAG2):c.1452G>A (p.Glu484=)
|
rs768299371
|
0.00016
|
|
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr)
|
rs201856473
|
0.00016
|
|
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu)
|
rs143413607
|
0.00016
|
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
0.00016
|
|
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)
|
rs373671419
|
0.00016
|
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
|
NM_000090.4(COL3A1):c.2229+6G>A
|
rs10186160
|
0.00015
|
|
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly)
|
rs112371422
|
0.00015
|
|
NM_000138.5(FBN1):c.1371C>G (p.Arg457=)
|
rs25436
|
0.00015
|
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
|
NM_000138.5(FBN1):c.863-3C>T
|
rs955955089
|
0.00015
|
|
NM_000218.3(KCNQ1):c.1459G>A (p.Glu487Lys)
|
rs1205552952
|
0.00015
|
|
NM_000256.3(MYBPC3):c.1226+6T>C
|
rs397515892
|
0.00015
|
|
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met)
|
rs377163678
|
0.00015
|
|
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=)
|
rs368706722
|
0.00015
|
|
NM_000432.4(MYL2):c.243G>T (p.Val81=)
|
rs368851472
|
0.00015
|
|
NM_001005242.3(PKP2):c.195C>T (p.Ala65=)
|
rs397517014
|
0.00015
|
|
NM_001005242.3(PKP2):c.2301C>T (p.Arg767=)
|
rs369166666
|
0.00015
|
|
NM_001005242.3(PKP2):c.805G>A (p.Gly269Arg)
|
rs757285245
|
0.00015
|
|
NM_001018005.2(TPM1):c.115-316G>A
|
rs397516491
|
0.00015
|
|
NM_001035.3(RYR2):c.6022+5G>A
|
rs376389213
|
0.00015
|
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
|
NM_001613.4(ACTA2):c.174C>T (p.Asp58=)
|
rs150547139
|
0.00015
|
|
NM_001613.4(ACTA2):c.936C>T (p.Ala312=)
|
rs200213764
|
0.00015
|
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
|
NM_002474.3(MYH11):c.1317C>T (p.Arg439=)
|
rs183292376
|
0.00015
|
|
NM_002474.3(MYH11):c.1749+4C>G
|
rs776271431
|
0.00015
|
|
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln)
|
rs149241435
|
0.00015
|
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
|
NM_024422.6(DSC2):c.1521-7C>T
|
rs374810953
|
0.00015
|
|
NM_024422.6(DSC2):c.2019C>T (p.Thr673=)
|
rs201469817
|
0.00015
|
|
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)
|
rs61094188
|
0.00015
|
|
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu)
|
rs201880122
|
0.00014
|
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
|
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
|
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu)
|
rs377272529
|
0.00014
|
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
|
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=)
|
rs1805118
|
0.00014
|
|
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=)
|
rs200669271
|
0.00014
|
|
NM_000256.3(MYBPC3):c.1020C>T (p.Tyr340=)
|
rs556616131
|
0.00014
|
|
NM_000256.3(MYBPC3):c.2149-5C>T
|
rs36211722
|
0.00014
|
|
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=)
|
rs532996422
|
0.00014
|
|
NM_000257.4(MYH7):c.3861G>C (p.Leu1287=)
|
rs150292548
|
0.00014
|
|
NM_000257.4(MYH7):c.4170-8C>A
|
rs199632504
|
0.00014
|
|
NM_000257.4(MYH7):c.4513C>T (p.Leu1505=)
|
rs139928934
|
0.00014
|
|
NM_000257.4(MYH7):c.957C>T (p.Thr319=)
|
rs368699342
|
0.00014
|
|
NM_000335.5(SCN5A):c.1425A>C (p.Arg475Ser)
|
rs199473116
|
0.00014
|
|
NM_000335.5(SCN5A):c.5663A>G (p.Tyr1888Cys)
|
rs1038605800
|
0.00014
|
|
NM_001005242.3(PKP2):c.1379-2066C>T
|
rs373399921
|
0.00014
|
|
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr)
|
rs115622575
|
0.00014
|
|
NM_001035.3(RYR2):c.1476+4C>T
|
rs369442980
|
0.00014
|
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
|
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)
|
rs200070226
|
0.00014
|
|
NM_001035.3(RYR2):c.8367T>C (p.Ile2789=)
|
rs563219502
|
0.00014
|
|
NM_001035.3(RYR2):c.8378G>A (p.Arg2793Gln)
|
rs559773178
|
0.00014
|
|
NM_001943.5(DSG2):c.3353C>T (p.Ser1118Phe)
|
rs368703304
|
0.00014
|
|
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys)
|
rs199842209
|
0.00014
|
|
NM_002474.3(MYH11):c.1017C>T (p.Ser339=)
|
rs112161189
|
0.00014
|
|
NM_002474.3(MYH11):c.1635G>C (p.Thr545=)
|
rs773802963
|
0.00014
|
|
NM_002474.3(MYH11):c.4293C>T (p.Asp1431=)
|
rs143588920
|
0.00014
|
|
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=)
|
rs199564260
|
0.00014
|
|
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=)
|
rs757501817
|
0.00014
|
|
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)
|
rs112948385
|
0.00014
|
|
NM_003242.6(TGFBR2):c.747G>C (p.Leu249=)
|
rs772907386
|
0.00014
|
|
NM_004415.4(DSP):c.1534A>G (p.Ile512Val)
|
rs202025438
|
0.00014
|
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
|
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00014
|
|
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)
|
rs377507763
|
0.00014
|
|
NM_004415.4(DSP):c.6192T>C (p.Asn2064=)
|
rs371230455
|
0.00014
|
|
NM_004415.4(DSP):c.889G>A (p.Asp297Asn)
|
rs201930322
|
0.00014
|
|
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr)
|
rs369142200
|
0.00014
|
|
NM_024334.3(TMEM43):c.864C>T (p.His288=)
|
rs377585035
|
0.00014
|
|
NM_024422.6(DSC2):c.2226A>G (p.Thr742=)
|
rs142807209
|
0.00014
|
|
NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr)
|
rs201220788
|
0.00013
|
|
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00013
|
|
NM_000138.5(FBN1):c.4748-12T>A
|
rs368723745
|
0.00013
|
|
NM_000138.5(FBN1):c.6054C>T (p.Val2018=)
|
rs542953863
|
0.00013
|
|
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=)
|
rs376119827
|
0.00013
|
|
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)
|
rs199472776
|
0.00013
|
|
NM_000218.3(KCNQ1):c.759C>T (p.Ser253=)
|
rs752457145
|
0.00013
|
|
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)
|
rs199472728
|
0.00013
|
|
NM_000238.4(KCNH2):c.2412C>A (p.Ile804=)
|
rs551139237
|
0.00013
|
|
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp)
|
rs199473022
|
0.00013
|
|
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile)
|
rs397516016
|
0.00013
|
|
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=)
|
rs397516054
|
0.00013
|
|
NM_000257.4(MYH7):c.2526T>C (p.Ser842=)
|
rs554560162
|
0.00013
|
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
|
NM_000257.4(MYH7):c.3726+6C>T
|
rs377745688
|
0.00013
|
|
NM_000335.5(SCN5A):c.1095C>G (p.Leu365=)
|
rs370377886
|
0.00013
|
|
NM_000335.5(SCN5A):c.1891-8G>A
|
rs12720064
|
0.00013
|
|
NM_000335.5(SCN5A):c.4200C>T (p.Asn1400=)
|
rs778436757
|
0.00013
|
|
NM_000335.5(SCN5A):c.4779C>T (p.Phe1593=)
|
rs376720757
|
0.00013
|
|
NM_000335.5(SCN5A):c.5857G>A (p.Glu1953Lys)
|
rs397517956
|
0.00013
|
|
NM_001005242.3(PKP2):c.1379-2018G>A
|
rs369518480
|
0.00013
|
|
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=)
|
rs143782040
|
0.00013
|
|
NM_001005242.3(PKP2):c.1842A>G (p.Gln614=)
|
rs138901574
|
0.00013
|
|
NM_001018020.2(TPM1):c.835C>T (p.Leu279=)
|
rs374434837
|
0.00013
|
|
NM_001035.3(RYR2):c.11811C>T (p.His3937=)
|
rs370924416
|
0.00013
|
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
|
NM_001035.3(RYR2):c.3067-15T>C
|
rs185110433
|
0.00013
|
|
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)
|
rs397516524
|
0.00013
|
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
|
NM_001035.3(RYR2):c.3951G>A (p.Thr1317=)
|
rs372097270
|
0.00013
|
|
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=)
|
rs765283048
|
0.00013
|
|
NM_001035.3(RYR2):c.7062C>T (p.Ala2354=)
|
rs182038403
|
0.00013
|
|
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)
|
rs199730192
|
0.00013
|
|
NM_001943.5(DSG2):c.148G>A (p.Ala50Thr)
|
rs1267795586
|
0.00013
|
|
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr)
|
rs375358300
|
0.00013
|
|
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)
|
rs368512832
|
0.00013
|
|
NM_002474.3(MYH11):c.3891C>T (p.Asn1297=)
|
rs541280738
|
0.00013
|
|
NM_002474.3(MYH11):c.4034G>A (p.Arg1345Gln)
|
rs150883363
|
0.00013
|
|
NM_002474.3(MYH11):c.4822G>A (p.Glu1608Lys)
|
rs777768672
|
0.00013
|
|
NM_002474.3(MYH11):c.4954-14G>C
|
rs375979600
|
0.00013
|
|
NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu)
|
rs144813247
|
0.00013
|
|
NM_002474.3(MYH11):c.633+1900G>A
|
rs371799677
|
0.00013
|
|
NM_004415.4(DSP):c.1575-15C>G
|
rs369184165
|
0.00013
|
|
NM_004415.4(DSP):c.251G>A (p.Arg84Gln)
|
rs373736975
|
0.00013
|
|
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)
|
rs111368396
|
0.00013
|
|
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)
|
rs139799237
|
0.00013
|
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
|
NM_004415.4(DSP):c.4386C>T (p.Ser1462=)
|
rs149981214
|
0.00013
|
|
NM_004612.4(TGFBR1):c.1497A>G (p.Glu499=)
|
rs200055681
|
0.00013
|
|
NM_005902.4(SMAD3):c.777C>T (p.Gly259=)
|
rs145414319
|
0.00013
|
|
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)
|
rs367910936
|
0.00013
|
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
|
NM_024422.6(DSC2):c.2298G>C (p.Gln766His)
|
rs139558481
|
0.00013
|
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
|
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala)
|
rs373201722
|
0.00013
|
|
NM_170707.4(LMNA):c.1051A>C (p.Arg351=)
|
rs771623461
|
0.00013
|
|
NM_000090.4(COL3A1):c.1854A>T (p.Gly618=)
|
rs370034518
|
0.00012
|
|
NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=)
|
rs146837092
|
0.00012
|
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
|
NM_000138.5(FBN1):c.3798T>C (p.Tyr1266=)
|
rs112987543
|
0.00012
|
|
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=)
|
rs369058466
|
0.00012
|
|
NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=)
|
rs376180501
|
0.00012
|
|
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=)
|
rs377292092
|
0.00012
|
|
NM_000256.3(MYBPC3):c.2487G>T (p.Leu829=)
|
rs201040413
|
0.00012
|
|
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys)
|
rs190765116
|
0.00012
|
|
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=)
|
rs368035400
|
0.00012
|
|
NM_000257.4(MYH7):c.240C>T (p.Asn80=)
|
rs200493975
|
0.00012
|
|
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro)
|
rs148310342
|
0.00012
|
|
NM_000335.5(SCN5A):c.1384G>A (p.Glu462Lys)
|
rs199473572
|
0.00012
|
|
NM_000335.5(SCN5A):c.1984G>T (p.Ala662Ser)
|
rs371313714
|
0.00012
|
|
NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr)
|
rs199473146
|
0.00012
|
|
NM_000335.5(SCN5A):c.4167C>T (p.Thr1389=)
|
rs747356664
|
0.00012
|
|
NM_000335.5(SCN5A):c.4524C>T (p.Pro1508=)
|
rs369404890
|
0.00012
|
|
NM_000335.5(SCN5A):c.4908C>T (p.Ile1636=)
|
rs200569112
|
0.00012
|
|
NM_000363.5(TNNI3):c.132G>C (p.Ser44=)
|
rs727504941
|
0.00012
|
|
NM_000363.5(TNNI3):c.207C>G (p.Arg69=)
|
rs201422579
|
0.00012
|
|
NM_001005242.3(PKP2):c.1379-2005A>G
|
rs397516995
|
0.00012
|
|
NM_001005242.3(PKP2):c.1540G>A (p.Val514Ile)
|
rs376102257
|
0.00012
|
|
NM_001005242.3(PKP2):c.306C>A (p.Ser102=)
|
rs376613662
|
0.00012
|
|
NM_001005242.3(PKP2):c.682G>A (p.Asp228Asn)
|
rs143954425
|
0.00012
|
|
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser)
|
rs777365708
|
0.00012
|
|
NM_002474.3(MYH11):c.4680C>T (p.Asp1560=)
|
rs142613263
|
0.00012
|
|
NM_004415.4(DSP):c.2037A>G (p.Ile679Met)
|
rs151049942
|
0.00012
|
|
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys)
|
rs202049575
|
0.00012
|
|
NM_004415.4(DSP):c.7125G>A (p.Gly2375=)
|
rs141709096
|
0.00012
|
|
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro)
|
rs147146713
|
0.00012
|
|
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=)
|
rs140261885
|
0.00012
|
|
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys)
|
rs147349145
|
0.00012
|
|
NM_016203.4(PRKAG2):c.1496A>G (p.Gln499Arg)
|
rs781741013
|
0.00012
|
|
NM_170707.4(LMNA):c.811-12C>T
|
rs372962650
|
0.00012
|
|
NM_170707.4(LMNA):c.990G>A (p.Glu330=)
|
rs140800215
|
0.00012
|
|
NM_000090.4(COL3A1):c.1347+6T>C
|
rs373343032
|
0.00011
|
|
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His)
|
rs144260440
|
0.00011
|
|
NM_000090.4(COL3A1):c.1697C>T (p.Pro566Leu)
|
rs150543864
|
0.00011
|
|
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu)
|
rs373838193
|
0.00011
|
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
|
NM_000090.4(COL3A1):c.838G>A (p.Ala280Thr)
|
rs142042452
|
0.00011
|
|
NM_000138.5(FBN1):c.1323A>G (p.Pro441=)
|
rs202030761
|
0.00011
|
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
|
NM_000138.5(FBN1):c.1838-6C>T
|
rs374629233
|
0.00011
|
|
NM_000138.5(FBN1):c.2289C>T (p.Cys763=)
|
rs181311020
|
0.00011
|
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
|
NM_000218.3(KCNQ1):c.1388G>C (p.Ser463Thr)
|
rs184636161
|
0.00011
|
|
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=)
|
rs370676650
|
0.00011
|
|
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)
|
rs199472706
|
0.00011
|
|
NM_000238.4(KCNH2):c.1641G>A (p.Ala547=)
|
rs149902084
|
0.00011
|
|
NM_000238.4(KCNH2):c.2616C>T (p.Pro872=)
|
rs374296728
|
0.00011
|
|
NM_000238.4(KCNH2):c.3089C>T (p.Pro1030Leu)
|
rs904066540
|
0.00011
|
|
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val)
|
rs370285346
|
0.00011
|
|
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=)
|
rs35690719
|
0.00011
|
|
NM_000256.3(MYBPC3):c.2011G>A (p.Val671Ile)
|
rs876657869
|
0.00011
|
|
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)
|
rs752200396
|
0.00011
|
|
NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr)
|
rs397516015
|
0.00011
|
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
|
NM_000256.3(MYBPC3):c.598A>G (p.Ser200Gly)
|
rs370554185
|
0.00011
|
|
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)
|
rs199552354
|
0.00011
|
|
NM_000257.4(MYH7):c.345C>T (p.Tyr115=)
|
rs149439730
|
0.00011
|
|
NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr)
|
rs372727092
|
0.00011
|
|
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=)
|
rs374289523
|
0.00011
|
|
NM_000257.4(MYH7):c.5071G>A (p.Val1691Met)
|
rs45464193
|
0.00011
|
|
NM_000257.4(MYH7):c.5139G>A (p.Val1713=)
|
rs369562442
|
0.00011
|
|
NM_000257.4(MYH7):c.5656-4G>A
|
rs397516250
|
0.00011
|
|
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln)
|
rs191009474
|
0.00011
|
|
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)
|
rs372970828
|
0.00011
|
|
NM_000335.5(SCN5A):c.1333C>G (p.His445Asp)
|
rs199473112
|
0.00011
|
|
NM_000335.5(SCN5A):c.2151G>A (p.Pro717=)
|
rs191840835
|
0.00011
|
|
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile)
|
rs199473341
|
0.00011
|
|
NM_000335.5(SCN5A):c.5088C>T (p.Phe1696=)
|
rs762929897
|
0.00011
|
|
NM_000335.5(SCN5A):c.5130C>T (p.Ala1710=)
|
rs377478501
|
0.00011
|
|
NM_000335.5(SCN5A):c.5181C>T (p.Cys1727=)
|
rs193922726
|
0.00011
|
|
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=)
|
rs375752426
|
0.00011
|
|
NM_000432.4(MYL2):c.33G>A (p.Gly11=)
|
rs199742269
|
0.00011
|
|
NM_001005242.3(PKP2):c.1323G>T (p.Arg441=)
|
rs3748278
|
0.00011
|
|
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)
|
rs370219248
|
0.00011
|
|
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)
|
rs144601090
|
0.00011
|
|
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile)
|
rs368633311
|
0.00011
|
|
NM_001018005.2(TPM1):c.726G>A (p.Ala242=)
|
rs200484871
|
0.00011
|
|
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=)
|
rs373769240
|
0.00011
|
|
NM_001035.3(RYR2):c.10700G>A (p.Arg3567His)
|
rs577371071
|
0.00011
|
|
NM_001035.3(RYR2):c.14808+3A>G
|
rs377491955
|
0.00011
|
|
NM_001035.3(RYR2):c.2630A>C (p.His877Pro)
|
rs561321743
|
0.00011
|
|
NM_001035.3(RYR2):c.402C>T (p.Ser134=)
|
rs776832019
|
0.00011
|
|
NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala)
|
rs369982130
|
0.00011
|
|
NM_001035.3(RYR2):c.6793-3C>T
|
rs372314209
|
0.00011
|
|
NM_001035.3(RYR2):c.7099G>A (p.Gly2367Arg)
|
rs369152386
|
0.00011
|
|
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=)
|
rs371088367
|
0.00011
|
|
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val)
|
rs1394059438
|
0.00011
|
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
|
NM_001613.4(ACTA2):c.606C>T (p.Phe202=)
|
rs143771352
|
0.00011
|
|
NM_001943.5(DSG2):c.1299T>C (p.Asp433=)
|
rs367548984
|
0.00011
|
|
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
|
rs375679311
|
0.00011
|
|
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)
|
rs369868954
|
0.00011
|
|
NM_002474.3(MYH11):c.3209A>G (p.Gln1070Arg)
|
rs147848256
|
0.00011
|
|
NM_002474.3(MYH11):c.3530C>T (p.Thr1177Met)
|
rs201391947
|
0.00011
|
|
NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp)
|
rs146388001
|
0.00011
|
|
NM_002474.3(MYH11):c.405G>A (p.Ser135=)
|
rs375649016
|
0.00011
|
|
NM_002474.3(MYH11):c.4095C>T (p.His1365=)
|
rs374454281
|
0.00011
|
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
|
NM_003242.6(TGFBR2):c.1356G>T (p.Leu452=)
|
rs997766869
|
0.00011
|
|
NM_004415.4(DSP):c.1483G>A (p.Val495Met)
|
rs372014020
|
0.00011
|
|
NM_004415.4(DSP):c.237C>T (p.Ser79=)
|
rs146521568
|
0.00011
|
|
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val)
|
rs199795359
|
0.00011
|
|
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
|
NM_004415.4(DSP):c.6360C>T (p.Thr2120=)
|
rs374252141
|
0.00011
|
|
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln)
|
rs766933370
|
0.00011
|
|
NM_004415.4(DSP):c.6753G>A (p.Lys2251=)
|
rs750294829
|
0.00011
|
|
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)
|
rs181378432
|
0.00011
|
|
NM_004415.4(DSP):c.687C>T (p.Gly229=)
|
rs112877191
|
0.00011
|
|
NM_004415.4(DSP):c.816G>A (p.Leu272=)
|
rs376184294
|
0.00011
|
|
NM_004415.4(DSP):c.897C>T (p.Ser299=)
|
rs121912992
|
0.00011
|
|
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=)
|
rs201267786
|
0.00011
|
|
NM_024334.3(TMEM43):c.429G>A (p.Thr143=)
|
rs201217046
|
0.00011
|
|
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys)
|
rs754536393
|
0.00011
|
|
NM_024422.6(DSC2):c.1070G>A (p.Arg357His)
|
rs201201194
|
0.00011
|
|
NM_170707.4(LMNA):c.1314G>A (p.Gly438=)
|
rs774817302
|
0.00011
|
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
|
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp)
|
rs374926367
|
0.00011
|
|
NM_000090.4(COL3A1):c.120G>A (p.Ala40=)
|
rs138115610
|
0.00010
|
|
NM_000090.4(COL3A1):c.1707T>C (p.Ser569=)
|
rs141542949
|
0.00010
|
|
NM_000090.4(COL3A1):c.2712C>T (p.Pro904=)
|
rs375673185
|
0.00010
|
|
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr)
|
rs776478974
|
0.00010
|
|
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His)
|
rs138533702
|
0.00010
|
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
|
NM_000138.5(FBN1):c.2892C>T (p.Asp964=)
|
rs116945525
|
0.00010
|
|
NM_000238.4(KCNH2):c.1881C>T (p.Phe627=)
|
rs199473039
|
0.00010
|
|
NM_000238.4(KCNH2):c.2681G>A (p.Arg894His)
|
rs199473668
|
0.00010
|
|
NM_000238.4(KCNH2):c.2739G>A (p.Ala913=)
|
rs776097223
|
0.00010
|
|
NM_000238.4(KCNH2):c.2769G>A (p.Pro923=)
|
rs557789224
|
0.00010
|
|
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn)
|
rs569452580
|
0.00010
|
|
NM_000238.4(KCNH2):c.3390A>G (p.Glu1130=)
|
rs41313068
|
0.00010
|
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
|
NM_000256.3(MYBPC3):c.1989T>A (p.Ala663=)
|
rs375467797
|
0.00010
|
|
NM_000256.3(MYBPC3):c.402C>T (p.Pro134=)
|
rs397516046
|
0.00010
|
|
NM_000256.3(MYBPC3):c.450C>T (p.Pro150=)
|
rs377520770
|
0.00010
|
|
NM_000256.3(MYBPC3):c.50G>A (p.Arg17Gln)
|
rs374630007
|
0.00010
|
|
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
|
NM_000256.3(MYBPC3):c.684T>G (p.Asp228Glu)
|
rs532498780
|
0.00010
|
|
NM_000256.3(MYBPC3):c.999C>T (p.Tyr333=)
|
rs367947846
|
0.00010
|
|
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)
|
rs139506719
|
0.00010
|
|
NM_000257.4(MYH7):c.1887G>A (p.Ala629=)
|
rs376572023
|
0.00010
|
|
NM_000257.4(MYH7):c.2184G>A (p.Ala728=)
|
rs148650290
|
0.00010
|
|
NM_000257.4(MYH7):c.5786C>T (p.Thr1929Met)
|
rs730880918
|
0.00010
|
|
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)
|
rs372731424
|
0.00010
|
|
NM_000335.5(SCN5A):c.*1G>A
|
rs375282305
|
0.00010
|
|
NM_000335.5(SCN5A):c.1597C>T (p.Arg533Cys)
|
rs775576991
|
0.00010
|
|
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=)
|
rs200556220
|
0.00010
|
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
|
NM_001005242.3(PKP2):c.45C>T (p.Thr15=)
|
rs759214983
|
0.00010
|
|
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser)
|
rs201944276
|
0.00010
|
|
NM_001018005.2(TPM1):c.522C>T (p.Ser174=)
|
rs200173919
|
0.00010
|
|
NM_001035.3(RYR2):c.12114T>C (p.Asp4038=)
|
rs368103385
|
0.00010
|
|
NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln)
|
rs376908332
|
0.00010
|
|
NM_001035.3(RYR2):c.2357G>A (p.Gly786Asp)
|
rs182778119
|
0.00010
|
|
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)
|
rs200574919
|
0.00010
|
|
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)
|
rs193922626
|
0.00010
|
|
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)
|
rs373261115
|
0.00010
|
|
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)
|
rs371934582
|
0.00010
|
|
NM_001035.3(RYR2):c.8590+4A>G
|
rs778964264
|
0.00010
|
|
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)
|
rs375482798
|
0.00010
|
|
NM_001035.3(RYR2):c.9368-12C>T
|
rs559526695
|
0.00010
|
|
NM_001099404.2(SCN5A):c.648G>A (p.Ser216=)
|
rs45475402
|
0.00010
|
|
NM_001613.4(ACTA2):c.201G>C (p.Leu67=)
|
rs199773697
|
0.00010
|
|
NM_001613.4(ACTA2):c.78C>T (p.Asp26=)
|
rs141538225
|
0.00010
|
|
NM_001613.4(ACTA2):c.807C>T (p.Ile269=)
|
rs112208466
|
0.00010
|
|
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile)
|
rs199761749
|
0.00010
|
|
NM_001943.5(DSG2):c.2643C>T (p.Thr881=)
|
rs180695545
|
0.00010
|
|
NM_002474.3(MYH11):c.2658C>T (p.Thr886=)
|
rs199587784
|
0.00010
|
|
NM_002474.3(MYH11):c.4117-6T>G
|
rs370252949
|
0.00010
|
|
NM_002474.3(MYH11):c.4637C>T (p.Thr1546Met)
|
rs753685135
|
0.00010
|
|
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=)
|
rs140577744
|
0.00010
|
|
NM_002474.3(MYH11):c.5269G>A (p.Asp1757Asn)
|
rs752996609
|
0.00010
|
|
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln)
|
rs746211825
|
0.00010
|
|
NM_002474.3(MYH11):c.585G>A (p.Leu195=)
|
rs146695946
|
0.00010
|
|
NM_003242.6(TGFBR2):c.1092T>C (p.Asp364=)
|
rs149195553
|
0.00010
|
|
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)
|
rs768385200
|
0.00010
|
|
NM_004415.4(DSP):c.1140+6T>C
|
rs534740669
|
0.00010
|
|
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)
|
rs751361395
|
0.00010
|
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
0.00010
|
|
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)
|
rs144641271
|
0.00010
|
|
NM_004415.4(DSP):c.5304G>C (p.Gly1768=)
|
rs530612211
|
0.00010
|
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
|
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=)
|
rs78843072
|
0.00010
|
|
NM_004415.4(DSP):c.8493G>C (p.Ser2831=)
|
rs397516969
|
0.00010
|
|
NM_004415.4(DSP):c.987G>A (p.Leu329=)
|
rs564435126
|
0.00010
|
|
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=)
|
rs753875974
|
0.00010
|
|
NM_005902.4(SMAD3):c.207-13C>T
|
rs200548744
|
0.00010
|
|
NM_005902.4(SMAD3):c.457C>T (p.Leu153=)
|
rs145380987
|
0.00010
|
|
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=)
|
rs142482217
|
0.00010
|
|
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)
|
rs397517270
|
0.00010
|
|
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr)
|
rs151010429
|
0.00010
|
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
|
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr)
|
rs756304120
|
0.00010
|
|
NM_024422.6(DSC2):c.2314G>A (p.Val772Met)
|
rs146029947
|
0.00010
|
|
NM_170707.4(LMNA):c.1202G>A (p.Arg401His)
|
rs141490569
|
0.00010
|
|
NM_000090.4(COL3A1):c.1701G>A (p.Gly567=)
|
rs765802289
|
0.00009
|
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
|
NM_000090.4(COL3A1):c.3256-12A>G
|
rs763415324
|
0.00009
|
|
NM_000090.4(COL3A1):c.3694G>A (p.Asp1232Asn)
|
rs147663769
|
0.00009
|
|
NM_000090.4(COL3A1):c.528+4C>T
|
rs528758308
|
0.00009
|
|
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)
|
rs139058991
|
0.00009
|
|
NM_000138.5(FBN1):c.2232G>C (p.Gly744=)
|
rs762745991
|
0.00009
|
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
|
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)
|
rs371377334
|
0.00009
|
|
NM_000138.5(FBN1):c.5225-13T>G
|
rs367786211
|
0.00009
|
|
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
|
rs369294972
|
0.00009
|
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
|
NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val)
|
rs772795413
|
0.00009
|
|
NM_000138.5(FBN1):c.942A>G (p.Lys314=)
|
rs376965275
|
0.00009
|
|
NM_000218.3(KCNQ1):c.1033-12A>G
|
rs200423553
|
0.00009
|
|
NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=)
|
rs144615901
|
0.00009
|
|
NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=)
|
rs200275211
|
0.00009
|
|
NM_000238.4(KCNH2):c.1129-6G>T
|
rs555400904
|
0.00009
|
|
NM_000238.4(KCNH2):c.1284G>A (p.Ser428=)
|
rs371864051
|
0.00009
|
|
NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=)
|
rs200692436
|
0.00009
|
|
NM_000238.4(KCNH2):c.1800C>T (p.Ser600=)
|
rs143518632
|
0.00009
|
|
NM_000238.4(KCNH2):c.2398+179G>A
|
rs373927190
|
0.00009
|
|
NM_000238.4(KCNH2):c.3120C>T (p.Ser1040=)
|
rs543615478
|
0.00009
|
|
NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg)
|
rs151031345
|
0.00009
|
|
NM_000238.4(KCNH2):c.3228C>T (p.Pro1076=)
|
rs41312087
|
0.00009
|
|
NM_000256.3(MYBPC3):c.1347G>T (p.Val449=)
|
rs539453748
|
0.00009
|
|
NM_000256.3(MYBPC3):c.2838A>G (p.Ala946=)
|
rs376858768
|
0.00009
|
|
NM_000256.3(MYBPC3):c.2961C>T (p.Val987=)
|
rs761700877
|
0.00009
|
|
NM_000256.3(MYBPC3):c.3384G>C (p.Glu1128Asp)
|
rs375116558
|
0.00009
|
|
NM_000256.3(MYBPC3):c.3412C>T (p.Arg1138Cys)
|
rs377171707
|
0.00009
|
|
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn)
|
rs769167548
|
0.00009
|
|
NM_000256.3(MYBPC3):c.648C>T (p.Ala216=)
|
rs777418402
|
0.00009
|
|
NM_000257.4(MYH7):c.2091T>C (p.Gly697=)
|
rs140380523
|
0.00009
|
|
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val)
|
rs121913644
|
0.00009
|
|
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys)
|
rs145677314
|
0.00009
|
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
|
NM_000257.4(MYH7):c.3045C>T (p.Asp1015=)
|
rs150607954
|
0.00009
|
|
NM_000257.4(MYH7):c.327C>T (p.Tyr109=)
|
rs36211408
|
0.00009
|
|
NM_000257.4(MYH7):c.3564T>C (p.Thr1188=)
|
rs45587932
|
0.00009
|
|
NM_000257.4(MYH7):c.4354-6G>A
|
rs368078397
|
0.00009
|
|
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)
|
rs139646545
|
0.00009
|
|
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)
|
rs727504355
|
0.00009
|
|
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)
|
rs200939753
|
0.00009
|
|
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=)
|
rs201171029
|
0.00009
|
|
NM_000257.4(MYH7):c.5559+5G>A
|
rs371177871
|
0.00009
|
|
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)
|
rs146848219
|
0.00009
|
|
NM_000335.5(SCN5A):c.1889C>T (p.Thr630Met)
|
rs777061524
|
0.00009
|
|
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His)
|
rs199473145
|
0.00009
|
|
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=)
|
rs564847999
|
0.00009
|
|
NM_000335.5(SCN5A):c.3388-7T>C
|
rs41310769
|
0.00009
|
|
NM_000335.5(SCN5A):c.3618C>T (p.Phe1206=)
|
rs184934308
|
0.00009
|
|
NM_000335.5(SCN5A):c.368C>T (p.Ala123Val)
|
rs765699394
|
0.00009
|
|
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
|
rs199473599
|
0.00009
|
|
NM_000335.5(SCN5A):c.3951G>A (p.Glu1317=)
|
rs769473892
|
0.00009
|
|
NM_000335.5(SCN5A):c.4325A>G (p.Asn1442Ser)
|
rs1473144775
|
0.00009
|
|
NM_000335.5(SCN5A):c.4449C>T (p.Asp1483=)
|
rs369245812
|
0.00009
|
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
|
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr)
|
rs199473294
|
0.00009
|
|
NM_000335.5(SCN5A):c.5283C>T (p.Ile1761=)
|
rs375323548
|
0.00009
|
|
NM_000335.5(SCN5A):c.5451C>T (p.Ala1817=)
|
rs370114378
|
0.00009
|
|
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp)
|
rs45465995
|
0.00009
|
|
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)
|
rs199473072
|
0.00009
|
|
NM_000335.5(SCN5A):c.885G>A (p.Glu295=)
|
rs373342830
|
0.00009
|
|
NM_000335.5(SCN5A):c.934+4C>T
|
rs182050752
|
0.00009
|
|
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)
|
rs192057022
|
0.00009
|
|
NM_000432.4(MYL2):c.374C>T (p.Thr125Met)
|
rs375667565
|
0.00009
|
|
NM_001005242.3(PKP2):c.1379-2065G>A
|
rs771856087
|
0.00009
|
|
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)
|
rs200947767
|
0.00009
|
|
NM_001005242.3(PKP2):c.996G>A (p.Leu332=)
|
rs144574595
|
0.00009
|
|
NM_001018004.2(TPM1):c.773-1187G>A
|
rs144451403
|
0.00009
|
|
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr)
|
rs149659674
|
0.00009
|
|
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln)
|
rs727503404
|
0.00009
|
|
NM_001035.3(RYR2):c.13069G>A (p.Ala4357Thr)
|
rs747622318
|
0.00009
|
|
NM_001035.3(RYR2):c.14101A>G (p.Ile4701Val)
|
rs755065507
|
0.00009
|
|
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser)
|
rs373665895
|
0.00009
|
|
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)
|
rs755391572
|
0.00009
|
|
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)
|
rs776046135
|
0.00009
|
|
NM_001035.3(RYR2):c.4800C>T (p.Pro1600=)
|
rs546340378
|
0.00009
|
|
NM_001035.3(RYR2):c.5600A>C (p.Glu1867Ala)
|
rs539021736
|
0.00009
|
|
NM_001035.3(RYR2):c.5754C>T (p.Val1918=)
|
rs397516545
|
0.00009
|
|
NM_001035.3(RYR2):c.5756G>A (p.Arg1919Gln)
|
rs199893812
|
0.00009
|
|
NM_001035.3(RYR2):c.639C>T (p.Ser213=)
|
rs375180398
|
0.00009
|
|
NM_001035.3(RYR2):c.6441-8C>G
|
rs770177812
|
0.00009
|
|
NM_001035.3(RYR2):c.7083T>C (p.Gly2361=)
|
rs749474378
|
0.00009
|
|
NM_001035.3(RYR2):c.7094A>G (p.Asn2365Ser)
|
rs369774984
|
0.00009
|
|
NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met)
|
rs769219555
|
0.00009
|
|
NM_001035.3(RYR2):c.7689A>G (p.Lys2563=)
|
rs201082550
|
0.00009
|
|
NM_001035.3(RYR2):c.9129-9A>G
|
rs992812963
|
0.00009
|
|
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val)
|
rs141837529
|
0.00009
|
|
NM_001276345.2(TNNT2):c.720-4G>T
|
rs201753429
|
0.00009
|
|
NM_001276345.2(TNNT2):c.774C>T (p.Phe258=)
|
rs397516481
|
0.00009
|
|
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)
|
rs376923877
|
0.00009
|
|
NM_001613.4(ACTA2):c.846C>T (p.Asn282=)
|
rs375251378
|
0.00009
|
|
NM_001943.5(DSG2):c.147C>T (p.Arg49=)
|
rs531036279
|
0.00009
|
|
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile)
|
rs727504770
|
0.00009
|
|
NM_001943.5(DSG2):c.379-3C>T
|
rs376556524
|
0.00009
|
|
NM_002474.3(MYH11):c.2532G>A (p.Leu844=)
|
rs139788520
|
0.00009
|
|
NM_002474.3(MYH11):c.3204C>T (p.His1068=)
|
rs140143700
|
0.00009
|
|
NM_002474.3(MYH11):c.3293+6G>A
|
rs370658839
|
0.00009
|
|
NM_002474.3(MYH11):c.4529A>G (p.Lys1510Arg)
|
rs199713089
|
0.00009
|
|
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)
|
rs144421849
|
0.00009
|
|
NM_002474.3(MYH11):c.5277C>T (p.Val1759=)
|
rs112564682
|
0.00009
|
|
NM_002474.3(MYH11):c.5353A>T (p.Ser1785Cys)
|
rs772663756
|
0.00009
|
|
NM_002474.3(MYH11):c.690C>T (p.Asn230=)
|
rs561105158
|
0.00009
|
|
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)
|
rs372922674
|
0.00009
|
|
NM_004415.4(DSP):c.3096C>T (p.Thr1032=)
|
rs139199849
|
0.00009
|
|
NM_004415.4(DSP):c.3981C>T (p.Ile1327=)
|
rs397516934
|
0.00009
|
|
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)
|
rs201736018
|
0.00009
|
|
NM_004415.4(DSP):c.424C>T (p.Leu142Phe)
|
rs373769397
|
0.00009
|
|
NM_004415.4(DSP):c.4750G>A (p.Ala1584Thr)
|
rs191778417
|
0.00009
|
|
NM_004415.4(DSP):c.5513G>A (p.Arg1838His)
|
rs377715841
|
0.00009
|
|
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)
|
rs730882116
|
0.00009
|
|
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys)
|
rs144392839
|
0.00009
|
|
NM_004415.4(DSP):c.5796C>G (p.Arg1932=)
|
rs148845182
|
0.00009
|
|
NM_004415.4(DSP):c.667G>A (p.Gly223Ser)
|
rs200806163
|
0.00009
|
|
NM_004415.4(DSP):c.7077C>T (p.Ile2359=)
|
rs966841386
|
0.00009
|
|
NM_004415.4(DSP):c.7852C>T (p.Pro2618Ser)
|
rs376005629
|
0.00009
|
|
NM_004415.4(DSP):c.8544A>C (p.Gly2848=)
|
rs201876903
|
0.00009
|
|
NM_005159.5(ACTC1):c.246C>T (p.Asp82=)
|
rs373261583
|
0.00009
|
|
NM_005159.5(ACTC1):c.455-7C>T
|
rs768363857
|
0.00009
|
|
NM_005902.4(SMAD3):c.714C>T (p.Tyr238=)
|
rs149443777
|
0.00009
|
|
NM_005902.4(SMAD3):c.783C>T (p.Thr261=)
|
rs370620091
|
0.00009
|
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
|
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)
|
rs376450705
|
0.00009
|
|
NM_016203.4(PRKAG2):c.187-4G>A
|
rs752294420
|
0.00009
|
|
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His)
|
rs765374050
|
0.00009
|
|
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=)
|
rs397517276
|
0.00009
|
|
NM_016203.4(PRKAG2):c.819C>T (p.Ile273=)
|
rs764244463
|
0.00009
|
|
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)
|
rs144811578
|
0.00009
|
|
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg)
|
rs730880226
|
0.00009
|
|
NM_024422.6(DSC2):c.2251-5T>G
|
rs374262463
|
0.00009
|
|
NM_024422.6(DSC2):c.23G>T (p.Gly8Val)
|
rs794728063
|
0.00009
|
|
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser)
|
rs139979318
|
0.00009
|
|
NM_024422.6(DSC2):c.951C>T (p.Asp317=)
|
rs749810775
|
0.00009
|
|
NM_170707.4(LMNA):c.1390A>G (p.Met464Val)
|
rs200262654
|
0.00009
|
|
NM_170707.4(LMNA):c.150C>T (p.Arg50=)
|
rs397517894
|
0.00009
|
|
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)
|
rs56851164
|
0.00009
|
|
NM_000090.4(COL3A1):c.1050+6C>T
|
rs528634384
|
0.00008
|
|
NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser)
|
rs771585795
|
0.00008
|
|
NM_000090.4(COL3A1):c.3630T>G (p.Gly1210=)
|
rs771034601
|
0.00008
|
|
NM_000138.5(FBN1):c.2079G>A (p.Gly693=)
|
rs374174497
|
0.00008
|
|
NM_000138.5(FBN1):c.2294-14C>G
|
rs201446948
|
0.00008
|
|
NM_000138.5(FBN1):c.2928C>T (p.Arg976=)
|
rs761997019
|
0.00008
|
|
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=)
|
rs144400069
|
0.00008
|
|
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu)
|
rs201156527
|
0.00008
|
|
NM_000138.5(FBN1):c.6038-15_6038-14del
|
rs752198920
|
0.00008
|
|
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)
|
rs144189837
|
0.00008
|
|
NM_000218.3(KCNQ1):c.387-7C>T
|
rs201682200
|
0.00008
|
|
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln)
|
rs138362632
|
0.00008
|
|
NM_000218.3(KCNQ1):c.804C>T (p.Ile268=)
|
rs373227792
|
0.00008
|
|
NM_000238.4(KCNH2):c.1341C>T (p.Tyr447=)
|
rs367570298
|
0.00008
|
|
NM_000238.4(KCNH2):c.1437C>T (p.Asn479=)
|
rs188818227
|
0.00008
|
|
NM_000238.4(KCNH2):c.2904G>A (p.Pro968=)
|
rs75005975
|
0.00008
|
|
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys)
|
rs199472885
|
0.00008
|
|
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu)
|
rs373056282
|
0.00008
|
|
NM_000256.3(MYBPC3):c.66C>T (p.Ala22=)
|
rs765986295
|
0.00008
|
|
NM_000256.3(MYBPC3):c.93C>T (p.Ala31=)
|
rs397516085
|
0.00008
|
|
NM_000257.4(MYH7):c.1407T>C (p.Asp469=)
|
rs112172952
|
0.00008
|
|
NM_000257.4(MYH7):c.241C>T (p.Pro81Ser)
|
rs1489940065
|
0.00008
|
|
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)
|
rs45560242
|
0.00008
|
|
NM_000258.3(MYL3):c.516G>A (p.Leu172=)
|
rs367761724
|
0.00008
|
|
NM_000335.5(SCN5A):c.2268C>T (p.Phe756=)
|
rs372271677
|
0.00008
|
|
NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln)
|
rs759584454
|
0.00008
|
|
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)
|
rs137854609
|
0.00008
|
|
NM_000335.5(SCN5A):c.3207G>A (p.Thr1069=)
|
rs371686822
|
0.00008
|
|
NM_000335.5(SCN5A):c.3536C>T (p.Ala1179Val)
|
rs41310765
|
0.00008
|
|
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met)
|
rs199473634
|
0.00008
|
|
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu)
|
rs199473638
|
0.00008
|
|
NM_000335.5(SCN5A):c.873C>T (p.Asn291=)
|
rs376515775
|
0.00008
|
|
NM_001005242.3(PKP2):c.1379-2038T>C
|
rs781397552
|
0.00008
|
|
NM_001005242.3(PKP2):c.194C>T (p.Ala65Val)
|
rs139924723
|
0.00008
|
|
NM_001005242.3(PKP2):c.888C>T (p.His296=)
|
rs397517029
|
0.00008
|
|
NM_001005242.3(PKP2):c.918C>T (p.Pro306=)
|
rs368656084
|
0.00008
|
|
NM_001035.3(RYR2):c.11092-11T>A
|
rs1040339463
|
0.00008
|
|
NM_001035.3(RYR2):c.11151A>G (p.Lys3717=)
|
rs748235560
|
0.00008
|
|
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)
|
rs375021201
|
0.00008
|
|
NM_001035.3(RYR2):c.13080C>T (p.Ser4360=)
|
rs369964660
|
0.00008
|
|
NM_001035.3(RYR2):c.13329-11T>G
|
rs778172821
|
0.00008
|
|
NM_001035.3(RYR2):c.13695C>T (p.Ser4565=)
|
rs377503418
|
0.00008
|
|
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)
|
rs371157286
|
0.00008
|
|
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln)
|
rs752144775
|
0.00008
|
|
NM_001035.3(RYR2):c.1561G>A (p.Glu521Lys)
|
rs759494098
|
0.00008
|
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
|
NM_001035.3(RYR2):c.4101A>G (p.Lys1367=)
|
rs376792533
|
0.00008
|
|
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met)
|
rs763389778
|
0.00008
|
|
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile)
|
rs371086868
|
0.00008
|
|
NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val)
|
rs767258350
|
0.00008
|
|
NM_001035.3(RYR2):c.684C>T (p.Leu228=)
|
rs72549417
|
0.00008
|
|
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)
|
rs376057173
|
0.00008
|
|
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=)
|
rs367987360
|
0.00008
|
|
NM_001035.3(RYR2):c.9397A>G (p.Ile3133Val)
|
rs1032783973
|
0.00008
|
|
NM_001035.3(RYR2):c.9518C>T (p.Thr3173Ile)
|
rs746161154
|
0.00008
|
|
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)
|
rs372601642
|
0.00008
|
|
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp)
|
rs751551400
|
0.00008
|
|
NM_001035.3(RYR2):c.9891G>A (p.Lys3297=)
|
rs368661838
|
0.00008
|
|
NM_002474.3(MYH11):c.1344T>C (p.His448=)
|
rs549593465
|
0.00008
|
|
NM_002474.3(MYH11):c.300C>T (p.Ser100=)
|
rs111662326
|
0.00008
|
|
NM_002474.3(MYH11):c.3039A>G (p.Thr1013=)
|
rs550108687
|
0.00008
|
|
NM_002474.3(MYH11):c.3293+5C>T
|
rs766421052
|
0.00008
|
|
NM_002474.3(MYH11):c.3611C>T (p.Ala1204Val)
|
rs772621139
|
0.00008
|
|
NM_002474.3(MYH11):c.3827C>T (p.Ala1276Val)
|
rs547038802
|
0.00008
|
|
NM_002474.3(MYH11):c.4127C>T (p.Ser1376Leu)
|
rs553877450
|
0.00008
|
|
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr)
|
rs145074004
|
0.00008
|
|
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met)
|
rs748516947
|
0.00008
|
|
NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser)
|
rs1305653433
|
0.00008
|
|
NM_003242.6(TGFBR2):c.577C>T (p.Arg193Trp)
|
rs61762550
|
0.00008
|
|
NM_004415.4(DSP):c.107G>C (p.Gly36Ala)
|
rs778506459
|
0.00008
|
|
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)
|
rs1431507005
|
0.00008
|
|
NM_004415.4(DSP):c.5316T>C (p.Asp1772=)
|
rs376186141
|
0.00008
|
|
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile)
|
rs757394666
|
0.00008
|
|
NM_004415.4(DSP):c.888C>T (p.Tyr296=)
|
rs149701627
|
0.00008
|
|
NM_004612.4(TGFBR1):c.1210A>G (p.Met404Val)
|
rs143435050
|
0.00008
|
|
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=)
|
rs149432225
|
0.00008
|
|
NM_005902.4(SMAD3):c.933C>T (p.Ser311=)
|
rs771384141
|
0.00008
|
|
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser)
|
rs200589374
|
0.00008
|
|
NM_016203.4(PRKAG2):c.429G>A (p.Ser143=)
|
rs757727533
|
0.00008
|
|
NM_024334.3(TMEM43):c.1089C>T (p.Thr363=)
|
rs145094507
|
0.00008
|
|
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly)
|
rs754797146
|
0.00008
|
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
|
NM_024334.3(TMEM43):c.798G>A (p.Arg266=)
|
rs139078900
|
0.00008
|
|
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys)
|
rs180908546
|
0.00008
|
|
NM_024422.6(DSC2):c.295T>A (p.Ser99Thr)
|
rs199714872
|
0.00008
|
|
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys)
|
rs762556795
|
0.00008
|
|
NM_024422.6(DSC2):c.596G>A (p.Arg199His)
|
rs374707462
|
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_000090.4(COL3A1):c.2277C>T (p.Gly759=)
|
rs763343051
|
0.00007
|
|
NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser)
|
rs769622439
|
0.00007
|
|
NM_000090.4(COL3A1):c.4026T>C (p.Asn1342=)
|
rs147250987
|
0.00007
|
|
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn)
|
rs756125442
|
0.00007
|
|
NM_000138.5(FBN1):c.1363T>C (p.Leu455=)
|
rs557954342
|
0.00007
|
|
NM_000138.5(FBN1):c.2746G>A (p.Val916Met)
|
rs373644734
|
0.00007
|
|
NM_000138.5(FBN1):c.2772C>T (p.Gly924=)
|
rs539699143
|
0.00007
|
|
NM_000138.5(FBN1):c.4582+3A>G
|
rs777845323
|
0.00007
|
|
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)
|
rs142912485
|
0.00007
|
|
NM_000138.5(FBN1):c.6372A>G (p.Ser2124=)
|
rs397515832
|
0.00007
|
|
NM_000138.5(FBN1):c.6942C>T (p.Tyr2314=)
|
rs372967546
|
0.00007
|
|
NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp)
|
rs766616232
|
0.00007
|
|
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)
|
rs147445322
|
0.00007
|
|
NM_000218.3(KCNQ1):c.493G>A (p.Val165Met)
|
rs1085307580
|
0.00007
|
|
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=)
|
rs745993706
|
0.00007
|
|
NM_000238.4(KCNH2):c.3278C>T (p.Pro1093Leu)
|
rs199473545
|
0.00007
|
|
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)
|
rs199472864
|
0.00007
|
|
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg)
|
rs199728019
|
0.00007
|
|
NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=)
|
rs397515955
|
0.00007
|
|
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln)
|
rs727504378
|
0.00007
|
|
NM_000256.3(MYBPC3):c.3049G>A (p.Glu1017Lys)
|
rs368180702
|
0.00007
|
|
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His)
|
rs374255381
|
0.00007
|
|
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)
|
rs202147520
|
0.00007
|
|
NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys)
|
rs397516075
|
0.00007
|
|
NM_000256.3(MYBPC3):c.844C>T (p.Arg282Trp)
|
rs727504234
|
0.00007
|
|
NM_000257.4(MYH7):c.114C>T (p.Phe38=)
|
rs146210693
|
0.00007
|
|
NM_000257.4(MYH7):c.1671G>A (p.Leu557=)
|
rs149386750
|
0.00007
|
|
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=)
|
rs368734580
|
0.00007
|
|
NM_000257.4(MYH7):c.5397A>G (p.Glu1799=)
|
rs200374977
|
0.00007
|
|
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=)
|
rs3729831
|
0.00007
|
|
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys)
|
rs199473339
|
0.00007
|
|
NM_000335.5(SCN5A):c.1750G>C (p.Gly584Arg)
|
rs763240431
|
0.00007
|
|
NM_000335.5(SCN5A):c.1842A>G (p.Pro614=)
|
rs766696979
|
0.00007
|
|
NM_000335.5(SCN5A):c.3118G>A (p.Gly1040Arg)
|
rs199473186
|
0.00007
|
|
NM_000335.5(SCN5A):c.3537G>A (p.Ala1179=)
|
rs370990219
|
0.00007
|
|
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val)
|
rs370588133
|
0.00007
|
|
NM_000335.5(SCN5A):c.990T>G (p.Ser330=)
|
rs779310644
|
0.00007
|
|
NM_000335.5(SCN5A):c.993C>T (p.Asp331=)
|
rs757715398
|
0.00007
|
|
NM_000363.5(TNNI3):c.246G>T (p.Pro82=)
|
rs397516343
|
0.00007
|
|
NM_000363.5(TNNI3):c.373-4C>G
|
rs2288530
|
0.00007
|
|
NM_001005242.3(PKP2):c.795G>T (p.Gly265=)
|
rs375268778
|
0.00007
|
|
NM_001005242.3(PKP2):c.927C>T (p.Ala309=)
|
rs200152448
|
0.00007
|
|
NM_001018005.2(TPM1):c.564-11G>A
|
rs532254032
|
0.00007
|
|
NM_001035.3(RYR2):c.10017C>T (p.His3339=)
|
rs376439588
|
0.00007
|
|
NM_001035.3(RYR2):c.1144G>A (p.Val382Met)
|
rs370057029
|
0.00007
|
|
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)
|
rs774625105
|
0.00007
|
|
NM_001035.3(RYR2):c.12291C>T (p.Asn4097=)
|
rs377313490
|
0.00007
|
|
NM_001035.3(RYR2):c.12669G>A (p.Lys4223=)
|
rs147887477
|
0.00007
|
|
NM_001035.3(RYR2):c.13329-3T>C
|
rs542440592
|
0.00007
|
|
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala)
|
rs376612295
|
0.00007
|
|
NM_001035.3(RYR2):c.1491C>T (p.Leu497=)
|
rs774279425
|
0.00007
|
|
NM_001035.3(RYR2):c.2104G>A (p.Gly702Arg)
|
rs569386030
|
0.00007
|
|
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His)
|
rs373600053
|
0.00007
|
|
NM_001035.3(RYR2):c.7495G>A (p.Ala2499Thr)
|
rs191850147
|
0.00007
|
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
|
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile)
|
rs769137357
|
0.00007
|
|
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=)
|
rs544981484
|
0.00007
|
|
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala)
|
rs191300661
|
0.00007
|
|
NM_002474.3(MYH11):c.1056G>A (p.Ser352=)
|
rs201256839
|
0.00007
|
|
NM_002474.3(MYH11):c.1434C>T (p.Tyr478=)
|
rs763773359
|
0.00007
|
|
NM_002474.3(MYH11):c.1839G>C (p.Lys613Asn)
|
rs754374723
|
0.00007
|
|
NM_002474.3(MYH11):c.3228G>A (p.Ala1076=)
|
rs773672888
|
0.00007
|
|
NM_002474.3(MYH11):c.3927C>T (p.Asp1309=)
|
rs150712107
|
0.00007
|
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
|
NM_002474.3(MYH11):c.5296-11C>T
|
rs780765461
|
0.00007
|
|
NM_002474.3(MYH11):c.5886C>T (p.Asp1962=)
|
rs140789717
|
0.00007
|
|
NM_003242.6(TGFBR2):c.1255-15C>G
|
rs563937625
|
0.00007
|
|
NM_003242.6(TGFBR2):c.1464G>A (p.Lys488=)
|
rs753282415
|
0.00007
|
|
NM_004415.4(DSP):c.1839C>T (p.Thr613=)
|
rs397516921
|
0.00007
|
|
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu)
|
rs747580402
|
0.00007
|
|
NM_004415.4(DSP):c.3102C>T (p.Ile1034=)
|
rs569974617
|
0.00007
|
|
NM_004415.4(DSP):c.4749C>T (p.Thr1583=)
|
rs745348231
|
0.00007
|
|
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)
|
rs144106775
|
0.00007
|
|
NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg)
|
rs202232360
|
0.00007
|
|
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)
|
rs139673146
|
0.00007
|
|
NM_004415.4(DSP):c.7563T>C (p.Asp2521=)
|
rs984412074
|
0.00007
|
|
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His)
|
rs201745016
|
0.00007
|
|
NM_005159.5(ACTC1):c.465G>A (p.Leu155=)
|
rs397517062
|
0.00007
|
|
NM_005902.4(SMAD3):c.1128C>T (p.Phe376=)
|
rs560348826
|
0.00007
|
|
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg)
|
rs751094298
|
0.00007
|
|
NM_024334.3(TMEM43):c.-4C>T
|
rs760598925
|
0.00007
|
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00007
|
|
NM_170707.4(LMNA):c.1530C>T (p.Thr510=)
|
rs138098342
|
0.00007
|
|
NM_000090.4(COL3A1):c.1128C>T (p.His376=)
|
rs771015742
|
0.00006
|
|
NM_000090.4(COL3A1):c.1150-13T>C
|
rs201839712
|
0.00006
|
|
NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser)
|
rs757192342
|
0.00006
|
|
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)
|
rs200394946
|
0.00006
|
|
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His)
|
rs568986390
|
0.00006
|
|
NM_000090.4(COL3A1):c.1585G>A (p.Val529Ile)
|
rs140257722
|
0.00006
|
|
NM_000090.4(COL3A1):c.1995C>T (p.Ala665=)
|
rs149093989
|
0.00006
|
|
NM_000090.4(COL3A1):c.217G>C (p.Asp73His)
|
rs200246388
|
0.00006
|
|
NM_000090.4(COL3A1):c.2355C>T (p.Pro785=)
|
rs148901664
|
0.00006
|
|
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu)
|
rs139610730
|
0.00006
|
|
NM_000090.4(COL3A1):c.2688C>T (p.Ser896=)
|
rs112723105
|
0.00006
|
|
NM_000090.4(COL3A1):c.2913T>G (p.Pro971=)
|
rs367872728
|
0.00006
|
|
NM_000090.4(COL3A1):c.3035G>A (p.Arg1012Lys)
|
rs865829661
|
0.00006
|
|
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)
|
rs139619440
|
0.00006
|
|
NM_000090.4(COL3A1):c.3228C>T (p.Pro1076=)
|
rs200917999
|
0.00006
|
|
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=)
|
rs148918486
|
0.00006
|
|
NM_000090.4(COL3A1):c.3418-12A>G
|
rs373367218
|
0.00006
|
|
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln)
|
rs886038983
|
0.00006
|
|
NM_000090.4(COL3A1):c.546C>T (p.Pro182=)
|
rs754584062
|
0.00006
|
|
NM_000090.4(COL3A1):c.873C>T (p.Gly291=)
|
rs138569287
|
0.00006
|
|
NM_000090.4(COL3A1):c.898-5T>C
|
rs535434618
|
0.00006
|
|
NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg)
|
rs374537884
|
0.00006
|
|
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro)
|
rs377722423
|
0.00006
|
|
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln)
|
rs568810058
|
0.00006
|
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
|
NM_000138.5(FBN1):c.273T>C (p.Asp91=)
|
rs375450755
|
0.00006
|
|
NM_000138.5(FBN1):c.2793G>T (p.Gly931=)
|
rs775785545
|
0.00006
|
|
NM_000138.5(FBN1):c.2835C>T (p.Ala945=)
|
rs140389544
|
0.00006
|
|
NM_000138.5(FBN1):c.2901C>T (p.Cys967=)
|
rs755610084
|
0.00006
|
|
NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys)
|
rs564713154
|
0.00006
|
|
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr)
|
rs376659156
|
0.00006
|
|
NM_000138.5(FBN1):c.3464-6C>T
|
rs375596551
|
0.00006
|
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
|
NM_000138.5(FBN1):c.4211-10C>T
|
rs28730793
|
0.00006
|
|
NM_000138.5(FBN1):c.4337-14T>C
|
rs78068079
|
0.00006
|
|
NM_000138.5(FBN1):c.4875C>G (p.Thr1625=)
|
rs140628
|
0.00006
|
|
NM_000138.5(FBN1):c.4986A>G (p.Thr1662=)
|
rs753705796
|
0.00006
|
|
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=)
|
rs141925790
|
0.00006
|
|
NM_000138.5(FBN1):c.5066-13dup
|
rs774517414
|
0.00006
|
|
NM_000138.5(FBN1):c.5097C>T (p.Tyr1699=)
|
rs368979510
|
0.00006
|
|
NM_000138.5(FBN1):c.5573A>G (p.Asn1858Ser)
|
rs751472490
|
0.00006
|
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
|
NM_000138.5(FBN1):c.6164-3C>T
|
rs571365493
|
0.00006
|
|
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)
|
rs200816828
|
0.00006
|
|
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)
|
rs201361628
|
0.00006
|
|
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=)
|
rs397515839
|
0.00006
|
|
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg)
|
rs368978109
|
0.00006
|
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
|
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)
|
rs138621371
|
0.00006
|
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
|
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)
|
rs193922244
|
0.00006
|
|
NM_000218.3(KCNQ1):c.1129-9C>T
|
rs758945992
|
0.00006
|
|
NM_000218.3(KCNQ1):c.1596G>A (p.Ala532=)
|
rs558452873
|
0.00006
|
|
NM_000218.3(KCNQ1):c.1733-3T>C
|
rs372912362
|
0.00006
|
|
NM_000218.3(KCNQ1):c.1733-7C>G
|
rs367568223
|
0.00006
|
|
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)
|
rs120074190
|
0.00006
|
|
NM_000218.3(KCNQ1):c.1795-4G>A
|
rs769865006
|
0.00006
|
|
NM_000218.3(KCNQ1):c.1938C>T (p.Gly646=)
|
rs184844767
|
0.00006
|
|
NM_000218.3(KCNQ1):c.2017G>A (p.Asp673Asn)
|
rs866169644
|
0.00006
|
|
NM_000218.3(KCNQ1):c.875G>A (p.Gly292Asp)
|
rs199472736
|
0.00006
|
|
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)
|
rs727504769
|
0.00006
|
|
NM_000238.4(KCNH2):c.1053G>C (p.Ser351=)
|
rs766203252
|
0.00006
|
|
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser)
|
rs199472918
|
0.00006
|
|
NM_000238.4(KCNH2):c.1683G>A (p.Ala561=)
|
rs140366118
|
0.00006
|
|
NM_000238.4(KCNH2):c.1839G>A (p.Thr613=)
|
rs146309583
|
0.00006
|
|
NM_000238.4(KCNH2):c.2127C>T (p.Asn709=)
|
rs768572372
|
0.00006
|
|
NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys)
|
rs140279503
|
0.00006
|
|
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys)
|
rs201627778
|
0.00006
|
|
NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu)
|
rs794728399
|
0.00006
|
|
NM_000238.4(KCNH2):c.2932G>A (p.Glu978Lys)
|
rs141117135
|
0.00006
|
|
NM_000238.4(KCNH2):c.3048C>T (p.Pro1016=)
|
rs770968269
|
0.00006
|
|
NM_000238.4(KCNH2):c.3090G>A (p.Pro1030=)
|
rs778604642
|
0.00006
|
|
NM_000238.4(KCNH2):c.3108C>T (p.Gly1036=)
|
rs373414022
|
0.00006
|
|
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met)
|
rs199473544
|
0.00006
|
|
NM_000238.4(KCNH2):c.3153-13C>T
|
rs372337645
|
0.00006
|
|
NM_000238.4(KCNH2):c.3216G>A (p.Thr1072=)
|
rs200182770
|
0.00006
|
|
NM_000238.4(KCNH2):c.342C>T (p.Pro114=)
|
rs532959204
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys)
|
rs368770848
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1309G>A (p.Val437Met)
|
rs730880535
|
0.00006
|
|
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=)
|
rs377579620
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1335G>A (p.Thr445=)
|
rs727503205
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1458-7C>T
|
rs397515904
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1671C>T (p.Gly557=)
|
rs751052593
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=)
|
rs61897383
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1815C>T (p.Asp605=)
|
rs768380030
|
0.00006
|
|
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys)
|
rs397515956
|
0.00006
|
|
NM_000256.3(MYBPC3):c.2310C>T (p.Asp770=)
|
rs397515959
|
0.00006
|
|
NM_000256.3(MYBPC3):c.237C>T (p.Tyr79=)
|
rs730880698
|
0.00006
|
|
NM_000256.3(MYBPC3):c.2518G>A (p.Val840Met)
|
rs376936056
|
0.00006
|
|
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu)
|
rs367729718
|
0.00006
|
|
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln)
|
rs730880623
|
0.00006
|
|
NM_000256.3(MYBPC3):c.752A>T (p.Asn251Ile)
|
rs368588523
|
0.00006
|
|
NM_000256.3(MYBPC3):c.94G>A (p.Glu32Lys)
|
rs730880575
|
0.00006
|
|
NM_000257.4(MYH7):c.1000-7C>T
|
rs200129563
|
0.00006
|
|
NM_000257.4(MYH7):c.115G>A (p.Val39Met)
|
rs376160714
|
0.00006
|
|
NM_000257.4(MYH7):c.1179C>T (p.Ala393=)
|
rs143293426
|
0.00006
|
|
NM_000257.4(MYH7):c.1200C>T (p.Cys400=)
|
rs374806617
|
0.00006
|
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00006
|
|
NM_000257.4(MYH7):c.2028T>C (p.Asn676=)
|
rs145564868
|
0.00006
|
|
NM_000257.4(MYH7):c.2145C>T (p.Tyr715=)
|
rs146675572
|
0.00006
|
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
|
NM_000257.4(MYH7):c.2922G>A (p.Lys974=)
|
rs147727900
|
0.00006
|
|
NM_000257.4(MYH7):c.3116A>G (p.Glu1039Gly)
|
rs199573700
|
0.00006
|
|
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn)
|
rs730880906
|
0.00006
|
|
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)
|
rs765895405
|
0.00006
|
|
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met)
|
rs371552806
|
0.00006
|
|
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
|
rs727503244
|
0.00006
|
|
NM_000257.4(MYH7):c.4353+5G>A
|
rs200436876
|
0.00006
|
|
NM_000257.4(MYH7):c.4363G>A (p.Glu1455Lys)
|
rs876661373
|
0.00006
|
|
NM_000257.4(MYH7):c.456C>G (p.Pro152=)
|
rs554968385
|
0.00006
|
|
NM_000257.4(MYH7):c.4650C>T (p.Ser1550=)
|
rs1051971790
|
0.00006
|
|
NM_000257.4(MYH7):c.4709C>A (p.Ala1570Glu)
|
rs730880807
|
0.00006
|
|
NM_000257.4(MYH7):c.474C>T (p.Ser158=)
|
rs200444892
|
0.00006
|
|
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)
|
rs369437262
|
0.00006
|
|
NM_000257.4(MYH7):c.5761C>A (p.Arg1921=)
|
rs539290591
|
0.00006
|
|
NM_000257.4(MYH7):c.5779A>T (p.Ile1927Phe)
|
rs767300277
|
0.00006
|
|
NM_000257.4(MYH7):c.714C>T (p.Asn238=)
|
rs202141819
|
0.00006
|
|
NM_000257.4(MYH7):c.78G>A (p.Ala26=)
|
rs746119986
|
0.00006
|
|
NM_000257.4(MYH7):c.968T>C (p.Ile323Thr)
|
rs397516275
|
0.00006
|
|
NM_000258.3(MYL3):c.420C>T (p.Phe140=)
|
rs201138698
|
0.00006
|
|
NM_000258.3(MYL3):c.552C>T (p.Asn184=)
|
rs140829951
|
0.00006
|
|
NM_000335.5(SCN5A):c.*6G>A
|
rs776980213
|
0.00006
|
|
NM_000335.5(SCN5A):c.101G>A (p.Arg34His)
|
rs199473046
|
0.00006
|
|
NM_000335.5(SCN5A):c.1282G>A (p.Glu428Lys)
|
rs199473111
|
0.00006
|
|
NM_000335.5(SCN5A):c.142G>A (p.Glu48Lys)
|
rs199473048
|
0.00006
|
|
NM_000335.5(SCN5A):c.1662C>T (p.Ser554=)
|
rs536201762
|
0.00006
|
|
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=)
|
rs200868190
|
0.00006
|
|
NM_000335.5(SCN5A):c.1855C>T (p.Leu619Phe)
|
rs199473133
|
0.00006
|
|
NM_000335.5(SCN5A):c.3032C>T (p.Pro1011Leu)
|
rs369249772
|
0.00006
|
|
NM_000335.5(SCN5A):c.3047C>T (p.Thr1016Met)
|
rs199473185
|
0.00006
|
|
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)
|
rs199473592
|
0.00006
|
|
NM_000335.5(SCN5A):c.3094G>A (p.Glu1032Lys)
|
rs369565476
|
0.00006
|
|
NM_000335.5(SCN5A):c.3243G>A (p.Val1081=)
|
rs41312407
|
0.00006
|
|
NM_000335.5(SCN5A):c.3336C>T (p.Ala1112=)
|
rs373679015
|
0.00006
|
|
NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp)
|
rs199473196
|
0.00006
|
|
NM_000335.5(SCN5A):c.3723C>T (p.Ala1241=)
|
rs61737829
|
0.00006
|
|
NM_000335.5(SCN5A):c.393-5C>A
|
rs368678204
|
0.00006
|
|
NM_000335.5(SCN5A):c.4401C>T (p.Val1467=)
|
rs766197312
|
0.00006
|
|
NM_000335.5(SCN5A):c.4887A>T (p.Ile1629=)
|
rs201559770
|
0.00006
|
|
NM_000335.5(SCN5A):c.5064C>T (p.Asp1688=)
|
rs557836660
|
0.00006
|
|
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)
|
rs199473044
|
0.00006
|
|
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)
|
rs137854619
|
0.00006
|
|
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys)
|
rs373118001
|
0.00006
|
|
NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=)
|
rs375254452
|
0.00006
|
|
NM_000335.5(SCN5A):c.5828G>A (p.Arg1943Gln)
|
rs767089602
|
0.00006
|
|
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr)
|
rs771018427
|
0.00006
|
|
NM_000335.5(SCN5A):c.955G>A (p.Gly319Ser)
|
rs199473090
|
0.00006
|
|
NM_000363.5(TNNI3):c.139T>C (p.Leu47=)
|
rs587780967
|
0.00006
|
|
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)
|
rs184709702
|
0.00006
|
|
NM_000363.5(TNNI3):c.363C>T (p.Asn121=)
|
rs371490136
|
0.00006
|
|
NM_000432.4(MYL2):c.275-7G>A
|
rs373241541
|
0.00006
|
|
NM_000432.4(MYL2):c.387G>A (p.Arg129=)
|
rs774686046
|
0.00006
|
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
|
NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn)
|
rs772334698
|
0.00006
|
|
NM_001005242.3(PKP2):c.1230C>T (p.Asp410=)
|
rs148364390
|
0.00006
|
|
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
|
NM_001005242.3(PKP2):c.2171A>C (p.Lys724Thr)
|
rs201487421
|
0.00006
|
|
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val)
|
rs145324631
|
0.00006
|
|
NM_001005242.3(PKP2):c.486G>A (p.Thr162=)
|
rs189040311
|
0.00006
|
|
NM_001005242.3(PKP2):c.900G>A (p.Thr300=)
|
rs140235564
|
0.00006
|
|
NM_001005242.3(PKP2):c.985A>C (p.Ser329Arg)
|
rs779173447
|
0.00006
|
|
NM_001018004.2(TPM1):c.773-1148A>C
|
rs139159081
|
0.00006
|
|
NM_001018005.2(TPM1):c.115-335G>T
|
rs587780971
|
0.00006
|
|
NM_001018005.2(TPM1):c.27G>A (p.Gln9=)
|
rs397516365
|
0.00006
|
|
NM_001018005.2(TPM1):c.563+267G>A
|
rs141757680
|
0.00006
|
|
NM_001018008.2(TPM1):c.695G>A (p.Arg232His)
|
rs730881128
|
0.00006
|
|
NM_001035.3(RYR2):c.10725+4A>T
|
rs116444428
|
0.00006
|
|
NM_001035.3(RYR2):c.10838+4G>A
|
rs776923037
|
0.00006
|
|
NM_001035.3(RYR2):c.11974A>C (p.Asn3992His)
|
rs781352451
|
0.00006
|
|
NM_001035.3(RYR2):c.12076T>G (p.Leu4026Val)
|
rs765141566
|
0.00006
|
|
NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr)
|
rs773441342
|
0.00006
|
|
NM_001035.3(RYR2):c.14310C>T (p.Thr4770=)
|
rs372967537
|
0.00006
|
|
NM_001035.3(RYR2):c.14658C>G (p.Thr4886=)
|
rs771308728
|
0.00006
|
|
NM_001035.3(RYR2):c.1511G>A (p.Arg504His)
|
rs201600087
|
0.00006
|
|
NM_001035.3(RYR2):c.1518C>T (p.His506=)
|
rs372620246
|
0.00006
|
|
NM_001035.3(RYR2):c.1962-12G>A
|
rs368241264
|
0.00006
|
|
NM_001035.3(RYR2):c.2045C>G (p.Thr682Arg)
|
rs377285489
|
0.00006
|
|
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)
|
rs377068202
|
0.00006
|
|
NM_001035.3(RYR2):c.2643A>C (p.Ile881=)
|
rs751869107
|
0.00006
|
|
NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu)
|
rs397516522
|
0.00006
|
|
NM_001035.3(RYR2):c.2772G>A (p.Leu924=)
|
rs780664060
|
0.00006
|
|
NM_001035.3(RYR2):c.3164G>A (p.Arg1055His)
|
rs757490010
|
0.00006
|
|
NM_001035.3(RYR2):c.3266G>A (p.Arg1089His)
|
rs552564367
|
0.00006
|
|
NM_001035.3(RYR2):c.3483C>T (p.Val1161=)
|
rs777622110
|
0.00006
|
|
NM_001035.3(RYR2):c.3507C>T (p.Asn1169=)
|
rs746106606
|
0.00006
|
|
NM_001035.3(RYR2):c.4488C>T (p.Pro1496=)
|
rs370082063
|
0.00006
|
|
NM_001035.3(RYR2):c.4596+4C>T
|
rs397516532
|
0.00006
|
|
NM_001035.3(RYR2):c.4695T>C (p.Pro1565=)
|
rs368826662
|
0.00006
|
|
NM_001035.3(RYR2):c.5253C>T (p.Ile1751=)
|
rs745565940
|
0.00006
|
|
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)
|
rs761770946
|
0.00006
|
|
NM_001035.3(RYR2):c.5835C>T (p.Asn1945=)
|
rs189299988
|
0.00006
|
|
NM_001035.3(RYR2):c.5917-12T>G
|
rs746414195
|
0.00006
|
|
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met)
|
rs370331492
|
0.00006
|
|
NM_001035.3(RYR2):c.6738G>T (p.Ser2246=)
|
rs368207198
|
0.00006
|
|
NM_001035.3(RYR2):c.7149C>T (p.His2383=)
|
rs183606632
|
0.00006
|
|
NM_001035.3(RYR2):c.7222-12T>C
|
rs540308433
|
0.00006
|
|
NM_001035.3(RYR2):c.7494G>A (p.Ala2498=)
|
rs533068485
|
0.00006
|
|
NM_001035.3(RYR2):c.76G>A (p.Ala26Thr)
|
rs368974917
|
0.00006
|
|
NM_001035.3(RYR2):c.8248T>A (p.Ser2750Thr)
|
rs547987180
|
0.00006
|
|
NM_001035.3(RYR2):c.8437-3T>C
|
rs924080705
|
0.00006
|
|
NM_001035.3(RYR2):c.9450-9C>T
|
rs752779628
|
0.00006
|
|
NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln)
|
rs369276868
|
0.00006
|
|
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=)
|
rs370740528
|
0.00006
|
|
NM_001040113.2(MYH11):c.5813C>A (p.Pro1938His)
|
rs765030635
|
0.00006
|
|
NM_001276345.2(TNNT2):c.114G>A (p.Ala38=)
|
rs200283086
|
0.00006
|
|
NM_001276345.2(TNNT2):c.295-14C>T
|
rs747477576
|
0.00006
|
|
NM_001276345.2(TNNT2):c.430C>A (p.Arg144=)
|
rs45525839
|
0.00006
|
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
|
NM_001276345.2(TNNT2):c.90C>T (p.Asp30=)
|
rs727503515
|
0.00006
|
|
NM_001613.4(ACTA2):c.1047C>T (p.Ala349=)
|
rs111352790
|
0.00006
|
|
NM_001613.4(ACTA2):c.63C>T (p.Ala21=)
|
rs201193926
|
0.00006
|
|
NM_001613.4(ACTA2):c.903A>G (p.Leu301=)
|
rs372824072
|
0.00006
|
|
NM_001943.5(DSG2):c.1089G>A (p.Ser363=)
|
rs372598337
|
0.00006
|
|
NM_001943.5(DSG2):c.1491C>T (p.Pro497=)
|
rs587780928
|
0.00006
|
|
NM_001943.5(DSG2):c.15G>C (p.Pro5=)
|
rs772663614
|
0.00006
|
|
NM_001943.5(DSG2):c.1643G>A (p.Arg548His)
|
rs551034751
|
0.00006
|
|
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val)
|
rs375527314
|
0.00006
|
|
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala)
|
rs372494397
|
0.00006
|
|
NM_001943.5(DSG2):c.2085G>A (p.Thr695=)
|
rs554396523
|
0.00006
|
|
NM_001943.5(DSG2):c.2241C>T (p.Thr747=)
|
rs767628208
|
0.00006
|
|
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe)
|
rs199926617
|
0.00006
|
|
NM_001943.5(DSG2):c.98A>G (p.Asn33Ser)
|
rs727505205
|
0.00006
|
|
NM_002474.3(MYH11):c.1301G>A (p.Arg434His)
|
rs754636432
|
0.00006
|
|
NM_002474.3(MYH11):c.1764G>A (p.Ala588=)
|
rs375133214
|
0.00006
|
|
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu)
|
rs771128441
|
0.00006
|
|
NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val)
|
rs373358736
|
0.00006
|
|
NM_002474.3(MYH11):c.3213C>T (p.Ile1071=)
|
rs374947185
|
0.00006
|
|
NM_002474.3(MYH11):c.3235G>A (p.Ala1079Thr)
|
rs140479999
|
0.00006
|
|
NM_002474.3(MYH11):c.3603C>G (p.His1201Gln)
|
rs199800922
|
0.00006
|
|
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)
|
rs190546350
|
0.00006
|
|
NM_002474.3(MYH11):c.3930G>A (p.Val1310=)
|
rs369184213
|
0.00006
|
|
NM_002474.3(MYH11):c.4096A>G (p.Ile1366Val)
|
rs147127121
|
0.00006
|
|
NM_002474.3(MYH11):c.4235C>T (p.Ala1412Val)
|
rs200391659
|
0.00006
|
|
NM_002474.3(MYH11):c.4566C>T (p.Asp1522=)
|
rs756552090
|
0.00006
|
|
NM_002474.3(MYH11):c.4579-14C>T
|
rs377410503
|
0.00006
|
|
NM_002474.3(MYH11):c.4579-6C>T
|
rs200223639
|
0.00006
|
|
NM_002474.3(MYH11):c.5172-3C>T
|
rs979879255
|
0.00006
|
|
NM_002474.3(MYH11):c.5172-6C>T
|
rs370786181
|
0.00006
|
|
NM_002474.3(MYH11):c.5313C>T (p.Asn1771=)
|
rs190675029
|
0.00006
|
|
NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys)
|
rs139418145
|
0.00006
|
|
NM_002474.3(MYH11):c.5614-7G>A
|
rs202120792
|
0.00006
|
|
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val)
|
rs369950711
|
0.00006
|
|
NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly)
|
rs199660234
|
0.00006
|
|
NM_003242.6(TGFBR2):c.937C>T (p.Arg313Trp)
|
rs55751315
|
0.00006
|
|
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr)
|
rs148665451
|
0.00006
|
|
NM_004415.4(DSP):c.1155G>A (p.Ala385=)
|
rs140488069
|
0.00006
|
|
NM_004415.4(DSP):c.1494G>A (p.Pro498=)
|
rs764544754
|
0.00006
|
|
NM_004415.4(DSP):c.174A>G (p.Gln58=)
|
rs140384933
|
0.00006
|
|
NM_004415.4(DSP):c.183G>A (p.Thr61=)
|
rs150383703
|
0.00006
|
|
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)
|
rs773113261
|
0.00006
|
|
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu)
|
rs535762713
|
0.00006
|
|
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)
|
rs2491079
|
0.00006
|
|
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln)
|
rs768455823
|
0.00006
|
|
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val)
|
rs753270443
|
0.00006
|
|
NM_004415.4(DSP):c.4022G>A (p.Arg1341His)
|
rs112242645
|
0.00006
|
|
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)
|
rs200745877
|
0.00006
|
|
NM_004415.4(DSP):c.4320G>A (p.Val1440=)
|
rs571103583
|
0.00006
|
|
NM_004415.4(DSP):c.4914C>T (p.Asp1638=)
|
rs750113099
|
0.00006
|
|
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn)
|
rs138588403
|
0.00006
|
|
NM_004415.4(DSP):c.561C>T (p.Val187=)
|
rs199585428
|
0.00006
|
|
NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)
|
rs142927608
|
0.00006
|
|
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp)
|
rs149827779
|
0.00006
|
|
NM_004415.4(DSP):c.6654C>T (p.Thr2218=)
|
rs727503005
|
0.00006
|
|
NM_004415.4(DSP):c.729C>T (p.Arg243=)
|
rs141028505
|
0.00006
|
|
NM_004415.4(DSP):c.7548G>A (p.Arg2516=)
|
rs756527780
|
0.00006
|
|
NM_004415.4(DSP):c.783G>A (p.Ala261=)
|
rs764596108
|
0.00006
|
|
NM_004415.4(DSP):c.8268A>C (p.Ile2756=)
|
rs397516963
|
0.00006
|
|
NM_004415.4(DSP):c.915C>T (p.Ile305=)
|
rs148395326
|
0.00006
|
|
NM_004612.4(TGFBR1):c.1141C>T (p.Pro381Ser)
|
rs760555508
|
0.00006
|
|
NM_004612.4(TGFBR1):c.1301C>G (p.Ser434Cys)
|
rs886039078
|
0.00006
|
|
NM_005159.5(ACTC1):c.717G>A (p.Glu239=)
|
rs369019849
|
0.00006
|
|
NM_005572.4(LMNA):c.1714C>T (p.Arg572Cys)
|
rs773169005
|
0.00006
|
|
NM_005902.4(SMAD3):c.510C>T (p.Ile170=)
|
rs375925515
|
0.00006
|
|
NM_005902.4(SMAD3):c.990C>T (p.Thr330=)
|
rs774470515
|
0.00006
|
|
NM_016203.4(PRKAG2):c.*5C>T
|
rs538072043
|
0.00006
|
|
NM_016203.4(PRKAG2):c.*6G>A
|
rs181109799
|
0.00006
|
|
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)
|
rs144857453
|
0.00006
|
|
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu)
|
rs182750960
|
0.00006
|
|
NM_024334.3(TMEM43):c.1185A>G (p.Pro395=)
|
rs747754860
|
0.00006
|
|
NM_024334.3(TMEM43):c.214G>A (p.Val72Met)
|
rs368603914
|
0.00006
|
|
NM_024334.3(TMEM43):c.53A>G (p.Lys18Arg)
|
rs1214893591
|
0.00006
|
|
NM_024334.3(TMEM43):c.578C>T (p.Ser193Leu)
|
rs140380494
|
0.00006
|
|
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)
|
rs201138253
|
0.00006
|
|
NM_024334.3(TMEM43):c.921G>A (p.Lys307=)
|
rs201771608
|
0.00006
|
|
NM_024334.3(TMEM43):c.981A>G (p.Thr327=)
|
rs764960823
|
0.00006
|
|
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly)
|
rs368089478
|
0.00006
|
|
NM_024422.6(DSC2):c.1291A>G (p.Met431Val)
|
rs377287621
|
0.00006
|
|
NM_024422.6(DSC2):c.1591A>C (p.Arg531=)
|
rs727502981
|
0.00006
|
|
NM_024422.6(DSC2):c.1638T>C (p.Asn546=)
|
rs145987522
|
0.00006
|
|
NM_024422.6(DSC2):c.2103G>A (p.Leu701=)
|
rs141726394
|
0.00006
|
|
NM_024422.6(DSC2):c.2139G>A (p.Thr713=)
|
rs112532429
|
0.00006
|
|
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met)
|
rs759513934
|
0.00006
|
|
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln)
|
rs765067237
|
0.00006
|
|
NM_024422.6(DSC2):c.2259G>A (p.Ala753=)
|
rs201086521
|
0.00006
|
|
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe)
|
rs141873745
|
0.00006
|
|
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu)
|
rs141379407
|
0.00006
|
|
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)
|
rs138592977
|
0.00006
|
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
|
NM_170707.4(LMNA):c.1381-6C>T
|
rs371635492
|
0.00006
|
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
|
NM_170707.4(LMNA):c.1770C>T (p.Thr590=)
|
rs397517896
|
0.00006
|
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
|
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=)
|
rs745743884
|
0.00005
|
|
NM_000090.4(COL3A1):c.2241C>T (p.Gly747=)
|
rs745440847
|
0.00005
|
|
NM_000138.5(FBN1):c.1272A>G (p.Gln424=)
|
rs763710172
|
0.00005
|
|
NM_000138.5(FBN1):c.155C>T (p.Ala52Val)
|
rs1258637670
|
0.00005
|
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
|
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)
|
rs770860280
|
0.00005
|
|
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly)
|
rs755085498
|
0.00005
|
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
|
NM_000138.5(FBN1):c.466A>C (p.Asn156His)
|
rs746352371
|
0.00005
|
|
NM_000138.5(FBN1):c.4746A>G (p.Thr1582=)
|
rs794727601
|
0.00005
|
|
NM_000138.5(FBN1):c.6699C>T (p.Pro2233=)
|
rs372386014
|
0.00005
|
|
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)
|
rs201226058
|
0.00005
|
|
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)
|
rs746127796
|
0.00005
|
|
NM_000138.5(FBN1):c.7743C>T (p.Cys2581=)
|
rs765772116
|
0.00005
|
|
NM_000138.5(FBN1):c.7820-4G>A
|
rs750036723
|
0.00005
|
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00005
|
|
NM_000138.5(FBN1):c.7965G>A (p.Ala2655=)
|
rs199887650
|
0.00005
|
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
|
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)
|
rs193922245
|
0.00005
|
|
NM_000218.3(KCNQ1):c.1128+4C>T
|
rs201590918
|
0.00005
|
|
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln)
|
rs145974930
|
0.00005
|
|
NM_000218.3(KCNQ1):c.1686-4C>T
|
rs548313980
|
0.00005
|
|
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=)
|
rs200670744
|
0.00005
|
|
NM_000218.3(KCNQ1):c.1761G>A (p.Thr587=)
|
rs148794853
|
0.00005
|
|
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser)
|
rs775608046
|
0.00005
|
|
NM_000218.3(KCNQ1):c.1902C>T (p.Gly634=)
|
rs774046442
|
0.00005
|
|
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg)
|
rs199473484
|
0.00005
|
|
NM_000218.3(KCNQ1):c.860C>A (p.Ala287Glu)
|
rs199472735
|
0.00005
|
|
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys)
|
rs199473464
|
0.00005
|
|
NM_000238.4(KCNH2):c.1129-9C>T
|
rs372184728
|
0.00005
|
|
NM_000238.4(KCNH2):c.1512C>T (p.Ala504=)
|
rs41311003
|
0.00005
|
|
NM_000238.4(KCNH2):c.2055C>T (p.Arg685=)
|
rs753149816
|
0.00005
|
|
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)
|
rs199473434
|
0.00005
|
|
NM_000238.4(KCNH2):c.2696C>T (p.Thr899Met)
|
rs1480554629
|
0.00005
|
|
NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys)
|
rs563611707
|
0.00005
|
|
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu)
|
rs76420733
|
0.00005
|
|
NM_000238.4(KCNH2):c.2931C>T (p.Cys977=)
|
rs761585108
|
0.00005
|
|
NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser)
|
rs778879572
|
0.00005
|
|
NM_000238.4(KCNH2):c.443G>A (p.Arg148Gln)
|
rs374912424
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1227-10C>T
|
rs374673836
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1372C>T (p.Arg458Cys)
|
rs377577698
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=)
|
rs397515906
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1672G>A (p.Ala558Thr)
|
rs727503198
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp)
|
rs201596087
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=)
|
rs397515932
|
0.00005
|
|
NM_000256.3(MYBPC3):c.187C>T (p.Arg63Trp)
|
rs373315466
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1953C>T (p.Cys651=)
|
rs936188645
|
0.00005
|
|
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)
|
rs375675796
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3003C>T (p.Pro1001=)
|
rs397515996
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3024C>A (p.Thr1008=)
|
rs1019544911
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3123C>T (p.Gly1041=)
|
rs374626656
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3190+4C>T
|
rs571457875
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His)
|
rs117354682
|
0.00005
|
|
NM_000256.3(MYBPC3):c.372C>T (p.Ala124=)
|
rs11570046
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3799C>T (p.Arg1267Cys)
|
rs765825263
|
0.00005
|
|
NM_000256.3(MYBPC3):c.534G>T (p.Val178=)
|
rs759249105
|
0.00005
|
|
NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala)
|
rs375774648
|
0.00005
|
|
NM_000257.4(MYH7):c.1251C>G (p.Val417=)
|
rs370628924
|
0.00005
|
|
NM_000257.4(MYH7):c.1261A>G (p.Ile421Val)
|
rs747189113
|
0.00005
|
|
NM_000257.4(MYH7):c.1323G>A (p.Thr441=)
|
rs397516096
|
0.00005
|
|
NM_000257.4(MYH7):c.153C>T (p.Ile51=)
|
rs373145667
|
0.00005
|
|
NM_000257.4(MYH7):c.3273C>T (p.Asn1091=)
|
rs200664031
|
0.00005
|
|
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln)
|
rs368575559
|
0.00005
|
|
NM_000257.4(MYH7):c.4290G>T (p.Val1430=)
|
rs372476972
|
0.00005
|
|
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile)
|
rs144200285
|
0.00005
|
|
NM_000257.4(MYH7):c.4347C>T (p.Phe1449=)
|
rs182311329
|
0.00005
|
|
NM_000257.4(MYH7):c.444C>T (p.Ser148=)
|
rs374466146
|
0.00005
|
|
NM_000257.4(MYH7):c.4519+6C>T
|
rs370779504
|
0.00005
|
|
NM_000257.4(MYH7):c.502+6A>G
|
rs569044957
|
0.00005
|
|
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)
|
rs200303340
|
0.00005
|
|
NM_000257.4(MYH7):c.5559+4C>T
|
rs727504319
|
0.00005
|
|
NM_000257.4(MYH7):c.67C>T (p.Arg23Trp)
|
rs730880828
|
0.00005
|
|
NM_000257.4(MYH7):c.894G>A (p.Leu298=)
|
rs147062651
|
0.00005
|
|
NM_000258.3(MYL3):c.399C>T (p.Phe133=)
|
rs112992334
|
0.00005
|
|
NM_000335.5(SCN5A):c.128G>A (p.Arg43Gln)
|
rs199473047
|
0.00005
|
|
NM_000335.5(SCN5A):c.1654G>T (p.Gly552Trp)
|
rs3918389
|
0.00005
|
|
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg)
|
rs199473128
|
0.00005
|
|
NM_000335.5(SCN5A):c.1755C>T (p.His585=)
|
rs201024847
|
0.00005
|
|
NM_000335.5(SCN5A):c.2077C>T (p.Arg693Cys)
|
rs375306544
|
0.00005
|
|
NM_000335.5(SCN5A):c.228C>T (p.Ile76=)
|
rs767641205
|
0.00005
|
|
NM_000335.5(SCN5A):c.2598G>A (p.Ser866=)
|
rs371173851
|
0.00005
|
|
NM_000335.5(SCN5A):c.2730G>A (p.Ser910=)
|
rs377561353
|
0.00005
|
|
NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln)
|
rs41313667
|
0.00005
|
|
NM_000335.5(SCN5A):c.3232T>A (p.Ser1078Thr)
|
rs376183542
|
0.00005
|
|
NM_000335.5(SCN5A):c.3337G>A (p.Asp1113Asn)
|
rs199473195
|
0.00005
|
|
NM_000335.5(SCN5A):c.3359C>T (p.Ala1120Val)
|
rs751938579
|
0.00005
|
|
NM_000335.5(SCN5A):c.3437C>A (p.Thr1146Asn)
|
rs759374610
|
0.00005
|
|
NM_000335.5(SCN5A):c.3521G>A (p.Arg1174His)
|
rs374314562
|
0.00005
|
|
NM_000335.5(SCN5A):c.3664-7T>A
|
rs373156650
|
0.00005
|
|
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=)
|
rs377173580
|
0.00005
|
|
NM_000335.5(SCN5A):c.4456A>C (p.Met1486Leu)
|
rs199473258
|
0.00005
|
|
NM_000335.5(SCN5A):c.4590C>T (p.Asp1530=)
|
rs372507927
|
0.00005
|
|
NM_000335.5(SCN5A):c.4811-5C>T
|
rs765962519
|
0.00005
|
|
NM_000335.5(SCN5A):c.5212C>T (p.Arg1738Trp)
|
rs199473303
|
0.00005
|
|
NM_000335.5(SCN5A):c.5763G>C (p.Lys1921Asn)
|
rs760280154
|
0.00005
|
|
NM_000335.5(SCN5A):c.5847C>T (p.Tyr1949=)
|
rs367778922
|
0.00005
|
|
NM_000363.5(TNNI3):c.39C>G (p.Arg13=)
|
rs397516346
|
0.00005
|
|
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)
|
rs199567559
|
0.00005
|
|
NM_000432.4(MYL2):c.456C>T (p.Tyr152=)
|
rs199815885
|
0.00005
|
|
NM_001005242.3(PKP2):c.1137C>T (p.His379=)
|
rs754927123
|
0.00005
|
|
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
|
rs372827156
|
0.00005
|
|
NM_001005242.3(PKP2):c.123G>T (p.Ala41=)
|
rs757273590
|
0.00005
|
|
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)
|
rs199571473
|
0.00005
|
|
NM_001005242.3(PKP2):c.1379-2000T>A
|
rs769899368
|
0.00005
|
|
NM_001005242.3(PKP2):c.1379-2072C>T
|
rs758950276
|
0.00005
|
|
NM_001005242.3(PKP2):c.1451C>T (p.Thr484Met)
|
rs774942476
|
0.00005
|
|
NM_001005242.3(PKP2):c.1809T>G (p.Cys603Trp)
|
rs767935208
|
0.00005
|
|
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
|
rs121434420
|
0.00005
|
|
NM_001005242.3(PKP2):c.576G>A (p.Pro192=)
|
rs373380483
|
0.00005
|
|
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met)
|
rs201580443
|
0.00005
|
|
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys)
|
rs564987195
|
0.00005
|
|
NM_001005242.3(PKP2):c.899C>A (p.Thr300Lys)
|
rs553098424
|
0.00005
|
|
NM_001005242.3(PKP2):c.974C>T (p.Ala325Val)
|
rs201803918
|
0.00005
|
|
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys)
|
rs559154874
|
0.00005
|
|
NM_001035.3(RYR2):c.11206G>A (p.Ala3736Thr)
|
rs375095599
|
0.00005
|
|
NM_001035.3(RYR2):c.11418T>C (p.Asn3806=)
|
rs889979768
|
0.00005
|
|
NM_001035.3(RYR2):c.12189G>A (p.Thr4063=)
|
rs368948386
|
0.00005
|
|
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser)
|
rs199624074
|
0.00005
|
|
NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser)
|
rs2009813
|
0.00005
|
|
NM_001035.3(RYR2):c.2039A>G (p.Asp680Gly)
|
rs758835308
|
0.00005
|
|
NM_001035.3(RYR2):c.2410C>T (p.Leu804Phe)
|
rs577451406
|
0.00005
|
|
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=)
|
rs201218861
|
0.00005
|
|
NM_001035.3(RYR2):c.5793T>G (p.Asp1931Glu)
|
rs372222227
|
0.00005
|
|
NM_001035.3(RYR2):c.594C>T (p.Asn198=)
|
rs727504676
|
0.00005
|
|
NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile)
|
rs749618476
|
0.00005
|
|
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu)
|
rs377368967
|
0.00005
|
|
NM_001035.3(RYR2):c.8209-13G>C
|
rs759582222
|
0.00005
|
|
NM_001035.3(RYR2):c.9251G>A (p.Arg3084Gln)
|
rs747605864
|
0.00005
|
|
NM_001099404.2(SCN5A):c.647C>T (p.Ser216Leu)
|
rs201002736
|
0.00005
|
|
NM_001276345.2(TNNT2):c.567C>T (p.Ser189=)
|
rs397516474
|
0.00005
|
|
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)
|
rs397516484
|
0.00005
|
|
NM_001276345.2(TNNT2):c.864C>T (p.Arg288=)
|
rs45503195
|
0.00005
|
|
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)
|
rs141121678
|
0.00005
|
|
NM_001943.5(DSG2):c.165C>T (p.Pro55=)
|
rs780650457
|
0.00005
|
|
NM_001943.5(DSG2):c.175C>T (p.Arg59Trp)
|
rs749602291
|
0.00005
|
|
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg)
|
rs765793636
|
0.00005
|
|
NM_001943.5(DSG2):c.2341G>T (p.Ala781Ser)
|
rs760402926
|
0.00005
|
|
NM_001943.5(DSG2):c.2471G>A (p.Arg824His)
|
rs376858770
|
0.00005
|
|
NM_001943.5(DSG2):c.2597C>T (p.Ala866Val)
|
rs553730922
|
0.00005
|
|
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu)
|
rs146402368
|
0.00005
|
|
NM_001943.5(DSG2):c.3095C>T (p.Thr1032Ile)
|
rs775546937
|
0.00005
|
|
NM_001943.5(DSG2):c.862G>A (p.Val288Ile)
|
rs780374242
|
0.00005
|
|
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)
|
rs201040643
|
0.00005
|
|
NM_002474.3(MYH11):c.2496G>C (p.Trp832Cys)
|
rs369196744
|
0.00005
|
|
NM_002474.3(MYH11):c.3054G>A (p.Glu1018=)
|
rs760751310
|
0.00005
|
|
NM_002474.3(MYH11):c.3612G>A (p.Ala1204=)
|
rs771698839
|
0.00005
|
|
NM_002474.3(MYH11):c.3722G>A (p.Arg1241Gln)
|
rs749705160
|
0.00005
|
|
NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln)
|
rs775809843
|
0.00005
|
|
NM_002474.3(MYH11):c.4773G>A (p.Arg1591=)
|
rs747923542
|
0.00005
|
|
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr)
|
rs376154041
|
0.00005
|
|
NM_002474.3(MYH11):c.5430C>T (p.Ser1810=)
|
rs528569286
|
0.00005
|
|
NM_002474.3(MYH11):c.5614-8C>T
|
rs376174444
|
0.00005
|
|
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln)
|
rs768140376
|
0.00005
|
|
NM_002474.3(MYH11):c.708C>T (p.Asn236=)
|
rs768328532
|
0.00005
|
|
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln)
|
rs771551560
|
0.00005
|
|
NM_003242.6(TGFBR2):c.567C>T (p.Tyr189=)
|
rs371221124
|
0.00005
|
|
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met)
|
rs150116445
|
0.00005
|
|
NM_003242.6(TGFBR2):c.95-7T>C
|
rs764533083
|
0.00005
|
|
NM_004415.4(DSP):c.1034A>G (p.Asp345Gly)
|
rs753855393
|
0.00005
|
|
NM_004415.4(DSP):c.2247A>G (p.Leu749=)
|
rs28763963
|
0.00005
|
|
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser)
|
rs548695484
|
0.00005
|
|
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)
|
rs148894066
|
0.00005
|
|
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile)
|
rs749820299
|
0.00005
|
|
NM_004415.4(DSP):c.4401A>G (p.Gln1467=)
|
rs199818953
|
0.00005
|
|
NM_004415.4(DSP):c.5063C>T (p.Ala1688Val)
|
rs372288373
|
0.00005
|
|
NM_004415.4(DSP):c.5221G>A (p.Ala1741Thr)
|
rs777773801
|
0.00005
|
|
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln)
|
rs751849031
|
0.00005
|
|
NM_004415.4(DSP):c.5555G>A (p.Arg1852His)
|
rs193922669
|
0.00005
|
|
NM_004415.4(DSP):c.643G>A (p.Glu215Lys)
|
rs148095061
|
0.00005
|
|
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)
|
rs367759510
|
0.00005
|
|
NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp)
|
rs767661570
|
0.00005
|
|
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)
|
rs374262024
|
0.00005
|
|
NM_004415.4(DSP):c.727-10T>G
|
rs375327581
|
0.00005
|
|
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)
|
rs193922671
|
0.00005
|
|
NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln)
|
rs769706539
|
0.00005
|
|
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr)
|
rs376751288
|
0.00005
|
|
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)
|
rs201826850
|
0.00005
|
|
NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys)
|
rs144850908
|
0.00005
|
|
NM_004415.4(DSP):c.916G>A (p.Ala306Thr)
|
rs368193211
|
0.00005
|
|
NM_004612.4(TGFBR1):c.1040G>C (p.Cys347Ser)
|
rs113786548
|
0.00005
|
|
NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val)
|
rs202010361
|
0.00005
|
|
NM_005902.4(SMAD3):c.1044C>T (p.Phe348=)
|
rs751780616
|
0.00005
|
|
NM_005902.4(SMAD3):c.354C>T (p.Asp118=)
|
rs752196822
|
0.00005
|
|
NM_005902.4(SMAD3):c.401-7C>T
|
rs774268232
|
0.00005
|
|
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu)
|
rs377026877
|
0.00005
|
|
NM_005902.4(SMAD3):c.872-4G>A
|
rs776577220
|
0.00005
|
|
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)
|
rs760826751
|
0.00005
|
|
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=)
|
rs761196275
|
0.00005
|
|
NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=)
|
rs374476363
|
0.00005
|
|
NM_016203.4(PRKAG2):c.1679-3C>T
|
rs371543989
|
0.00005
|
|
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu)
|
rs41317142
|
0.00005
|
|
NM_024334.3(TMEM43):c.679C>G (p.His227Asp)
|
rs201460674
|
0.00005
|
|
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys)
|
rs879255385
|
0.00005
|
|
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys)
|
rs193922708
|
0.00005
|
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
|
NM_170707.4(LMNA):c.1803C>T (p.Ser601=)
|
rs267607604
|
0.00005
|
|
NM_170707.4(LMNA):c.329G>A (p.Arg110His)
|
rs556237236
|
0.00005
|
|
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)
|
rs267607570
|
0.00005
|
|
NM_000090.4(COL3A1):c.1071G>C (p.Gly357=)
|
rs373908002
|
0.00004
|
|
NM_000090.4(COL3A1):c.1261G>A (p.Ala421Thr)
|
rs372329498
|
0.00004
|
|
NM_000090.4(COL3A1):c.1348-13T>C
|
rs753505868
|
0.00004
|
|
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val)
|
rs770168441
|
0.00004
|
|
NM_000090.4(COL3A1):c.1743C>T (p.Pro581=)
|
rs140229974
|
0.00004
|
|
NM_000090.4(COL3A1):c.2148T>C (p.Pro716=)
|
rs146492493
|
0.00004
|
|
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu)
|
rs886038849
|
0.00004
|
|
NM_000090.4(COL3A1):c.272C>T (p.Pro91Leu)
|
rs534898281
|
0.00004
|
|
NM_000090.4(COL3A1):c.2802G>A (p.Ser934=)
|
rs113870310
|
0.00004
|
|
NM_000090.4(COL3A1):c.3066A>G (p.Pro1022=)
|
rs756680770
|
0.00004
|
|
NM_000090.4(COL3A1):c.3245G>A (p.Arg1082Gln)
|
rs367754862
|
0.00004
|
|
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)
|
rs730880062
|
0.00004
|
|
NM_000090.4(COL3A1):c.3336T>C (p.Pro1112=)
|
rs749357239
|
0.00004
|
|
NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg)
|
rs769100283
|
0.00004
|
|
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr)
|
rs550665335
|
0.00004
|
|
NM_000090.4(COL3A1):c.4255-14G>A
|
rs758216726
|
0.00004
|
|
NM_000090.4(COL3A1):c.87A>C (p.Glu29Asp)
|
rs760482912
|
0.00004
|
|
NM_000090.4(COL3A1):c.929G>A (p.Arg310Gln)
|
rs778497667
|
0.00004
|
|
NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser)
|
rs363855
|
0.00004
|
|
NM_000138.5(FBN1):c.1116C>T (p.Val372=)
|
rs774193938
|
0.00004
|
|
NM_000138.5(FBN1):c.1242T>G (p.Pro414=)
|
rs371929738
|
0.00004
|
|
NM_000138.5(FBN1):c.1290A>G (p.Pro430=)
|
rs749526018
|
0.00004
|
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
|
NM_000138.5(FBN1):c.1837+4C>T
|
rs199950267
|
0.00004
|
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
|
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
|
NM_000138.5(FBN1):c.2168-6G>A
|
rs200924505
|
0.00004
|
|
NM_000138.5(FBN1):c.2290G>A (p.Val764Ile)
|
rs769641351
|
0.00004
|
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
|
NM_000138.5(FBN1):c.2637C>T (p.Leu879=)
|
rs202163602
|
0.00004
|
|
NM_000138.5(FBN1):c.2753C>G (p.Pro918Arg)
|
rs557798071
|
0.00004
|
|
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)
|
rs778181932
|
0.00004
|
|
NM_000138.5(FBN1):c.3246C>T (p.Gly1082=)
|
rs138855754
|
0.00004
|
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
|
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=)
|
rs144339604
|
0.00004
|
|
NM_000138.5(FBN1):c.347-15T>C
|
rs749417882
|
0.00004
|
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
|
NM_000138.5(FBN1):c.350A>G (p.Gln117Arg)
|
rs777826174
|
0.00004
|
|
NM_000138.5(FBN1):c.3837A>G (p.Val1279=)
|
rs59007872
|
0.00004
|
|
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met)
|
rs774851476
|
0.00004
|
|
NM_000138.5(FBN1):c.405A>G (p.Leu135=)
|
rs187254268
|
0.00004
|
|
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)
|
rs375402043
|
0.00004
|
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
|
NM_000138.5(FBN1):c.4176G>A (p.Lys1392=)
|
rs141633998
|
0.00004
|
|
NM_000138.5(FBN1):c.4337-9C>T
|
rs201001403
|
0.00004
|
|
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile)
|
rs780957696
|
0.00004
|
|
NM_000138.5(FBN1):c.492T>C (p.Asn164=)
|
rs778007582
|
0.00004
|
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
|
NM_000138.5(FBN1):c.5656C>G (p.Gln1886Glu)
|
rs1038114901
|
0.00004
|
|
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)
|
rs774798866
|
0.00004
|
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
|
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val)
|
rs766850261
|
0.00004
|
|
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)
|
rs765878996
|
0.00004
|
|
NM_000138.5(FBN1):c.6038-15A>C
|
rs774279350
|
0.00004
|
|
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)
|
rs363802
|
0.00004
|
|
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys)
|
rs377149130
|
0.00004
|
|
NM_000138.5(FBN1):c.6497-11G>A
|
rs183200505
|
0.00004
|
|
NM_000138.5(FBN1):c.6911A>G (p.Asn2304Ser)
|
rs375939213
|
0.00004
|
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
|
NM_000138.5(FBN1):c.7230C>T (p.His2410=)
|
rs193922231
|
0.00004
|
|
NM_000138.5(FBN1):c.7700-13G>C
|
rs775509707
|
0.00004
|
|
NM_000138.5(FBN1):c.8004C>T (p.Gly2668=)
|
rs371285755
|
0.00004
|
|
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser)
|
rs758748297
|
0.00004
|
|
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)
|
rs771437236
|
0.00004
|
|
NM_000138.5(FBN1):c.8542A>C (p.Lys2848Gln)
|
rs199846998
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1033-13C>T
|
rs765281450
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1033-15T>A
|
rs534945737
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1033-4C>T
|
rs543599445
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1033-5C>G
|
rs764094211
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1107G>A (p.Pro369=)
|
rs746037904
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1345G>A (p.Glu449Lys)
|
rs372583676
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr)
|
rs753256800
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1533G>A (p.Arg511=)
|
rs535306115
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His)
|
rs199473482
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1750G>A (p.Gly584Ser)
|
rs199472811
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1905G>A (p.Gly635=)
|
rs1003639764
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1945G>A (p.Asp649Asn)
|
rs781333509
|
0.00004
|
|
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp)
|
rs150172393
|
0.00004
|
|
NM_000218.3(KCNQ1):c.603C>T (p.Ile201=)
|
rs146190510
|
0.00004
|
|
NM_000218.3(KCNQ1):c.658C>A (p.Gln220Lys)
|
rs755789171
|
0.00004
|
|
NM_000238.4(KCNH2):c.1128+1869C>T
|
rs62492438
|
0.00004
|
|
NM_000238.4(KCNH2):c.1128+1884G>A
|
rs765679790
|
0.00004
|
|
NM_000238.4(KCNH2):c.1179G>A (p.Pro393=)
|
rs200020952
|
0.00004
|
|
NM_000238.4(KCNH2):c.1181G>A (p.Arg394His)
|
rs781140785
|
0.00004
|
|
NM_000238.4(KCNH2):c.1307C>T (p.Thr436Met)
|
rs199472901
|
0.00004
|
|
NM_000238.4(KCNH2):c.1458C>T (p.Pro486=)
|
rs376388545
|
0.00004
|
|
NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile)
|
rs374376640
|
0.00004
|
|
NM_000238.4(KCNH2):c.1524C>T (p.Phe508=)
|
rs555601424
|
0.00004
|
|
NM_000238.4(KCNH2):c.1608G>A (p.Ala536=)
|
rs144925439
|
0.00004
|
|
NM_000238.4(KCNH2):c.1644C>T (p.Ala548=)
|
rs370764268
|
0.00004
|
|
NM_000238.4(KCNH2):c.2035C>T (p.Arg679Trp)
|
rs79624542
|
0.00004
|
|
NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val)
|
rs199473532
|
0.00004
|
|
NM_000238.4(KCNH2):c.2142C>T (p.Asn714=)
|
rs552000706
|
0.00004
|
|
NM_000238.4(KCNH2):c.2361C>T (p.Ile787=)
|
rs147635827
|
0.00004
|
|
NM_000238.4(KCNH2):c.2398+156G>A
|
rs139247073
|
0.00004
|
|
NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val)
|
rs765427343
|
0.00004
|
|
NM_000238.4(KCNH2):c.2675G>A (p.Arg892His)
|
rs774216337
|
0.00004
|
|
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)
|
rs199473435
|
0.00004
|
|
NM_000238.4(KCNH2):c.2793G>A (p.Pro931=)
|
rs200976506
|
0.00004
|
|
NM_000238.4(KCNH2):c.2810G>A (p.Ser937Asn)
|
rs199473540
|
0.00004
|
|
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys)
|
rs141401803
|
0.00004
|
|
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val)
|
rs199473012
|
0.00004
|
|
NM_000238.4(KCNH2):c.2889C>T (p.Pro963=)
|
rs749814759
|
0.00004
|
|
NM_000238.4(KCNH2):c.2901G>A (p.Pro967=)
|
rs780481239
|
0.00004
|
|
NM_000238.4(KCNH2):c.2943C>T (p.Ser981=)
|
rs374528441
|
0.00004
|
|
NM_000238.4(KCNH2):c.2994C>T (p.Phe998=)
|
rs368954514
|
0.00004
|
|
NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp)
|
rs199473021
|
0.00004
|
|
NM_000238.4(KCNH2):c.3109G>A (p.Asp1037Asn)
|
rs199473023
|
0.00004
|
|
NM_000238.4(KCNH2):c.3153-3C>T
|
rs1165322354
|
0.00004
|
|
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln)
|
rs41307270
|
0.00004
|
|
NM_000238.4(KCNH2):c.3229G>A (p.Ala1077Thr)
|
rs201382073
|
0.00004
|
|
NM_000238.4(KCNH2):c.3347C>T (p.Ala1116Val)
|
rs199473032
|
0.00004
|
|
NM_000238.4(KCNH2):c.391G>T (p.Val131Leu)
|
rs142590566
|
0.00004
|
|
NM_000238.4(KCNH2):c.77-10G>C
|
rs774772373
|
0.00004
|
|
NM_000238.4(KCNH2):c.918G>A (p.Gly306=)
|
rs761554886
|
0.00004
|
|
NM_000256.3(MYBPC3):c.-10G>A
|
rs567307744
|
0.00004
|
|
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln)
|
rs397515885
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=)
|
rs375007425
|
0.00004
|
|
NM_000256.3(MYBPC3):c.107C>A (p.Ala36Glu)
|
rs376646845
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1091C>T (p.Ala364Val)
|
rs778161908
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1152C>T (p.Thr384=)
|
rs775237084
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1294G>A (p.Ala432Thr)
|
rs371167525
|
0.00004
|
|
NM_000256.3(MYBPC3):c.131G>A (p.Arg44His)
|
rs369205562
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1370C>T (p.Thr457Met)
|
rs370538243
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
|
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=)
|
rs368918487
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1518C>T (p.Asp506=)
|
rs397515908
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1590C>T (p.Ser530=)
|
rs763905291
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1914C>T (p.Phe638=)
|
rs377227442
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2056G>C (p.Ala686Pro)
|
rs367992212
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2149-8C>G
|
rs397515950
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2177G>A (p.Arg726His)
|
rs397515953
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met)
|
rs564378953
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2200A>G (p.Ser734Gly)
|
rs747081382
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)
|
rs371488302
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2319C>T (p.Asp773=)
|
rs397515962
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu)
|
rs730880565
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2517C>T (p.Gly839=)
|
rs370561202
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val)
|
rs774172488
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2603-11C>T
|
rs11570105
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=)
|
rs397515980
|
0.00004
|
|
NM_000256.3(MYBPC3):c.270C>T (p.Phe90=)
|
rs367990952
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)
|
rs773819168
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2807C>T (p.Thr936Met)
|
rs374946555
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2808G>A (p.Thr936=)
|
rs370530334
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2886G>A (p.Val962=)
|
rs369685402
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2895G>A (p.Gln965=)
|
rs1057524069
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2939G>A (p.Arg980His)
|
rs727503179
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln)
|
rs727504235
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3052G>C (p.Glu1018Gln)
|
rs372003333
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)
|
rs397516000
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met)
|
rs371061770
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3218G>A (p.Arg1073Gln)
|
rs376598916
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3297G>A (p.Gly1099=)
|
rs371301665
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3330+2T>G
|
rs387906397
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)
|
rs121909378
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val)
|
rs779884363
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3573G>A (p.Ser1191=)
|
rs371488508
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr)
|
rs397516026
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3581C>T (p.Ala1194Val)
|
rs730880594
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln)
|
rs730880596
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His)
|
rs730880142
|
0.00004
|
|
NM_000256.3(MYBPC3):c.479G>A (p.Arg160Gln)
|
rs730880617
|
0.00004
|
|
NM_000256.3(MYBPC3):c.540C>T (p.Gly180=)
|
rs371842442
|
0.00004
|
|
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu)
|
rs727503216
|
0.00004
|
|
NM_000256.3(MYBPC3):c.630C>T (p.His210=)
|
rs762695516
|
0.00004
|
|
NM_000256.3(MYBPC3):c.639C>T (p.Tyr213=)
|
rs727504858
|
0.00004
|
|
NM_000256.3(MYBPC3):c.645C>T (p.Arg215=)
|
rs397516064
|
0.00004
|
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
|
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg)
|
rs373730381
|
0.00004
|
|
NM_000256.3(MYBPC3):c.799C>G (p.Leu267Val)
|
rs370941975
|
0.00004
|
|
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met)
|
rs776834755
|
0.00004
|
|
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln)
|
rs11570060
|
0.00004
|
|
NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala)
|
rs545675333
|
0.00004
|
|
NM_000257.4(MYH7):c.1266T>C (p.Tyr422=)
|
rs141519877
|
0.00004
|
|
NM_000257.4(MYH7):c.12G>A (p.Ser4=)
|
rs45561941
|
0.00004
|
|
NM_000257.4(MYH7):c.1332T>C (p.Asn444=)
|
rs397516099
|
0.00004
|
|
NM_000257.4(MYH7):c.1341G>A (p.Leu447=)
|
rs1322172502
|
0.00004
|
|
NM_000257.4(MYH7):c.1368C>T (p.Phe456=)
|
rs766216871
|
0.00004
|
|
NM_000257.4(MYH7):c.1482T>C (p.Phe494=)
|
rs587781088
|
0.00004
|
|
NM_000257.4(MYH7):c.211G>A (p.Val71Met)
|
rs730880830
|
0.00004
|
|
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val)
|
rs397516138
|
0.00004
|
|
NM_000257.4(MYH7):c.2425G>T (p.Asp809Tyr)
|
rs397516147
|
0.00004
|
|
NM_000257.4(MYH7):c.2585C>T (p.Ala862Val)
|
rs149576470
|
0.00004
|
|
NM_000257.4(MYH7):c.2637C>T (p.Ser879=)
|
rs199915408
|
0.00004
|
|
NM_000257.4(MYH7):c.2822G>A (p.Arg941His)
|
rs765458590
|
0.00004
|
|
NM_000257.4(MYH7):c.28G>C (p.Gly10Arg)
|
rs199577321
|
0.00004
|
|
NM_000257.4(MYH7):c.3125A>G (p.Lys1042Arg)
|
rs991485633
|
0.00004
|
|
NM_000257.4(MYH7):c.3261G>A (p.Leu1087=)
|
rs371937608
|
0.00004
|
|
NM_000257.4(MYH7):c.3270C>T (p.Leu1090=)
|
rs760840698
|
0.00004
|
|
NM_000257.4(MYH7):c.372C>T (p.Thr124=)
|
rs755855267
|
0.00004
|
|
NM_000257.4(MYH7):c.3771T>C (p.Asn1257=)
|
rs375219617
|
0.00004
|
|
NM_000257.4(MYH7):c.3854-14T>G
|
rs371212384
|
0.00004
|
|
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val)
|
rs768393069
|
0.00004
|
|
NM_000257.4(MYH7):c.3993C>T (p.His1331=)
|
rs200288088
|
0.00004
|
|
NM_000257.4(MYH7):c.4053G>A (p.Thr1351=)
|
rs397516200
|
0.00004
|
|
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=)
|
rs45523835
|
0.00004
|
|
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=)
|
rs754295295
|
0.00004
|
|
NM_000257.4(MYH7):c.4097C>T (p.Ser1366Leu)
|
rs767000995
|
0.00004
|
|
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)
|
rs886050418
|
0.00004
|
|
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)
|
rs397516211
|
0.00004
|
|
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=)
|
rs578166720
|
0.00004
|
|
NM_000257.4(MYH7):c.4458C>T (p.Asn1486=)
|
rs571704020
|
0.00004
|
|
NM_000257.4(MYH7):c.4520-15G>A
|
rs200886528
|
0.00004
|
|
NM_000257.4(MYH7):c.4605C>T (p.Ala1535=)
|
rs746261895
|
0.00004
|
|
NM_000257.4(MYH7):c.4721G>A (p.Arg1574Gln)
|
rs779715863
|
0.00004
|
|
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln)
|
rs730880808
|
0.00004
|
|
NM_000257.4(MYH7):c.4827C>T (p.Asn1609=)
|
rs587781085
|
0.00004
|
|
NM_000257.4(MYH7):c.4893C>T (p.His1631=)
|
rs369164804
|
0.00004
|
|
NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr)
|
rs145822086
|
0.00004
|
|
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)
|
rs397516233
|
0.00004
|
|
NM_000257.4(MYH7):c.503-5C>T
|
rs397516236
|
0.00004
|
|
NM_000257.4(MYH7):c.5115G>A (p.Glu1705=)
|
rs397516239
|
0.00004
|
|
NM_000257.4(MYH7):c.5253T>C (p.Ala1751=)
|
rs776282574
|
0.00004
|
|
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)
|
rs139222507
|
0.00004
|
|
NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln)
|
rs371855540
|
0.00004
|
|
NM_000257.4(MYH7):c.5495G>A (p.Arg1832His)
|
rs730880820
|
0.00004
|
|
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu)
|
rs727503242
|
0.00004
|
|
NM_000257.4(MYH7):c.5560-7C>T
|
rs778224065
|
0.00004
|
|
NM_000257.4(MYH7):c.633G>A (p.Pro211=)
|
rs587781087
|
0.00004
|
|
NM_000257.4(MYH7):c.924C>T (p.Tyr308=)
|
rs762065412
|
0.00004
|
|
NM_000258.3(MYL3):c.*5C>T
|
rs727505197
|
0.00004
|
|
NM_000258.3(MYL3):c.158-10C>T
|
rs765419653
|
0.00004
|
|
NM_000258.3(MYL3):c.246G>A (p.Ala82=)
|
rs368364468
|
0.00004
|
|
NM_000258.3(MYL3):c.367A>G (p.Lys123Glu)
|
rs536445081
|
0.00004
|
|
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys)
|
rs143852164
|
0.00004
|
|
NM_000258.3(MYL3):c.466G>A (p.Val156Met)
|
rs199474707
|
0.00004
|
|
NM_000258.3(MYL3):c.476C>T (p.Thr159Met)
|
rs748832105
|
0.00004
|
|
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser)
|
rs199473552
|
0.00004
|
|
NM_000335.5(SCN5A):c.1065C>T (p.Phe355=)
|
rs45570333
|
0.00004
|
|
NM_000335.5(SCN5A):c.1153G>A (p.Ala385Thr)
|
rs771588294
|
0.00004
|
|
NM_000335.5(SCN5A):c.1195C>T (p.Leu399=)
|
rs369253900
|
0.00004
|
|
NM_000335.5(SCN5A):c.1281C>T (p.Thr427=)
|
rs375989197
|
0.00004
|
|
NM_000335.5(SCN5A):c.1575C>T (p.Ser525=)
|
rs370684004
|
0.00004
|
|
NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val)
|
rs201641342
|
0.00004
|
|
NM_000335.5(SCN5A):c.1712G>T (p.Ser571Ile)
|
rs199473126
|
0.00004
|
|
NM_000335.5(SCN5A):c.1858C>T (p.Arg620Cys)
|
rs199473577
|
0.00004
|
|
NM_000335.5(SCN5A):c.1902G>A (p.Ser634=)
|
rs764360705
|
0.00004
|
|
NM_000335.5(SCN5A):c.1914C>T (p.Gly638=)
|
rs764488677
|
0.00004
|
|
NM_000335.5(SCN5A):c.1915G>A (p.Gly639Arg)
|
rs199473136
|
0.00004
|
|
NM_000335.5(SCN5A):c.192G>T (p.Leu64=)
|
rs372406427
|
0.00004
|
|
NM_000335.5(SCN5A):c.1976G>A (p.Arg659Gln)
|
rs374908012
|
0.00004
|
|
NM_000335.5(SCN5A):c.2002G>A (p.Val668Ile)
|
rs768055977
|
0.00004
|
|
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu)
|
rs199473147
|
0.00004
|
|
NM_000335.5(SCN5A):c.2181C>T (p.Ile727=)
|
rs186942072
|
0.00004
|
|
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=)
|
rs878911306
|
0.00004
|
|
NM_000335.5(SCN5A):c.2496C>T (p.Ile832=)
|
rs761287478
|
0.00004
|
|
NM_000335.5(SCN5A):c.2597C>T (p.Ser866Leu)
|
rs755194086
|
0.00004
|
|
NM_000335.5(SCN5A):c.2956C>T (p.Arg986Trp)
|
rs561547165
|
0.00004
|
|
NM_000335.5(SCN5A):c.2962C>T (p.Arg988Trp)
|
rs768691853
|
0.00004
|
|
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln)
|
rs763891399
|
0.00004
|
|
NM_000335.5(SCN5A):c.3147C>T (p.Ile1049=)
|
rs867787484
|
0.00004
|
|
NM_000335.5(SCN5A):c.3204C>T (p.Gly1068=)
|
rs1464663200
|
0.00004
|
|
NM_000335.5(SCN5A):c.3574C>T (p.Arg1192Trp)
|
rs192379242
|
0.00004
|
|
NM_000335.5(SCN5A):c.357C>G (p.Pro119=)
|
rs749556647
|
0.00004
|
|
NM_000335.5(SCN5A):c.3692G>A (p.Arg1231Gln)
|
rs199473206
|
0.00004
|
|
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln)
|
rs977717858
|
0.00004
|
|
NM_000335.5(SCN5A):c.3948T>C (p.Phe1316=)
|
rs571705278
|
0.00004
|
|
NM_000335.5(SCN5A):c.3993G>A (p.Pro1331=)
|
rs775789293
|
0.00004
|
|
NM_000335.5(SCN5A):c.4122C>T (p.Tyr1374=)
|
rs550389164
|
0.00004
|
|
NM_000335.5(SCN5A):c.4293G>A (p.Arg1431=)
|
rs199473246
|
0.00004
|
|
NM_000335.5(SCN5A):c.42C>T (p.Arg14=)
|
rs183988524
|
0.00004
|
|
NM_000335.5(SCN5A):c.4330T>C (p.Tyr1444His)
|
rs754733108
|
0.00004
|
|
NM_000335.5(SCN5A):c.435C>T (p.Cys145=)
|
rs587781159
|
0.00004
|
|
NM_000335.5(SCN5A):c.43A>G (p.Arg15Gly)
|
rs752553088
|
0.00004
|
|
NM_000335.5(SCN5A):c.4435-10C>T
|
rs747594441
|
0.00004
|
|
NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=)
|
rs375026424
|
0.00004
|
|
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)
|
rs199473260
|
0.00004
|
|
NM_000335.5(SCN5A):c.4807G>A (p.Val1603Met)
|
rs199473280
|
0.00004
|
|
NM_000335.5(SCN5A):c.483-15G>T
|
rs751095938
|
0.00004
|
|
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His)
|
rs199473283
|
0.00004
|
|
NM_000335.5(SCN5A):c.4977C>T (p.Ile1659=)
|
rs752079563
|
0.00004
|
|
NM_000335.5(SCN5A):c.5172G>A (p.Pro1724=)
|
rs372629753
|
0.00004
|
|
NM_000335.5(SCN5A):c.5340G>A (p.Glu1780=)
|
rs534169066
|
0.00004
|
|
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln)
|
rs41311087
|
0.00004
|
|
NM_000335.5(SCN5A):c.5432C>T (p.Ser1811Leu)
|
rs371891414
|
0.00004
|
|
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=)
|
rs560476223
|
0.00004
|
|
NM_000335.5(SCN5A):c.5643C>T (p.Ala1881=)
|
rs370423367
|
0.00004
|
|
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln)
|
rs199473069
|
0.00004
|
|
NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val)
|
rs371194826
|
0.00004
|
|
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)
|
rs794728940
|
0.00004
|
|
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter)
|
rs757532106
|
0.00004
|
|
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys)
|
rs199473335
|
0.00004
|
|
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln)
|
rs199473336
|
0.00004
|
|
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met)
|
rs762981322
|
0.00004
|
|
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val)
|
rs199473561
|
0.00004
|
|
NM_000335.5(SCN5A):c.864C>T (p.Asn288=)
|
rs373728726
|
0.00004
|
|
NM_000335.5(SCN5A):c.880G>A (p.Val294Met)
|
rs199473086
|
0.00004
|
|
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser)
|
rs137854608
|
0.00004
|
|
NM_000335.5(SCN5A):c.954C>T (p.Asn318=)
|
rs372623225
|
0.00004
|
|
NM_000363.5(TNNI3):c.236G>T (p.Arg79Leu)
|
rs397516342
|
0.00004
|
|
NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter)
|
rs730881068
|
0.00004
|
|
NM_000363.5(TNNI3):c.293G>A (p.Arg98Gln)
|
rs747522089
|
0.00004
|
|
NM_000363.5(TNNI3):c.303C>T (p.His101=)
|
rs199539066
|
0.00004
|
|
NM_000363.5(TNNI3):c.308G>A (p.Arg103His)
|
rs371000425
|
0.00004
|
|
NM_000363.5(TNNI3):c.373-11T>A
|
rs746918706
|
0.00004
|
|
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)
|
rs397516347
|
0.00004
|
|
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)
|
rs368861241
|
0.00004
|
|
NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp)
|
rs760978512
|
0.00004
|
|
NM_000363.5(TNNI3):c.6G>A (p.Ala2=)
|
rs397516361
|
0.00004
|
|
NM_000432.4(MYL2):c.459G>C (p.Lys153Asn)
|
rs149078011
|
0.00004
|
|
NM_000432.4(MYL2):c.97T>C (p.Phe33Leu)
|
rs730880945
|
0.00004
|
|
NM_001005242.3(PKP2):c.1010G>A (p.Ser337Asn)
|
rs144401285
|
0.00004
|
|
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln)
|
rs370868564
|
0.00004
|
|
NM_001005242.3(PKP2):c.1238G>A (p.Arg413Gln)
|
rs200715477
|
0.00004
|
|
NM_001005242.3(PKP2):c.12C>T (p.Pro4=)
|
rs397516991
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-1997G>A
|
rs781072699
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-2022G>A
|
rs111450489
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-2102C>G
|
rs762631031
|
0.00004
|
|
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=)
|
rs727504098
|
0.00004
|
|
NM_001005242.3(PKP2):c.1464C>T (p.Ile488=)
|
rs145387575
|
0.00004
|
|
NM_001005242.3(PKP2):c.1537A>G (p.Asn513Asp)
|
rs200343561
|
0.00004
|
|
NM_001005242.3(PKP2):c.1575C>T (p.Gly525=)
|
rs780049494
|
0.00004
|
|
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr)
|
rs558637427
|
0.00004
|
|
NM_001005242.3(PKP2):c.1608C>T (p.Asp536=)
|
rs397517006
|
0.00004
|
|
NM_001005242.3(PKP2):c.1825A>G (p.Arg609Gly)
|
rs775103879
|
0.00004
|
|
NM_001005242.3(PKP2):c.1874G>C (p.Ser625Thr)
|
rs779926314
|
0.00004
|
|
NM_001005242.3(PKP2):c.1889T>C (p.Val630Ala)
|
rs751965920
|
0.00004
|
|
NM_001005242.3(PKP2):c.1965A>G (p.Gln655=)
|
rs727505293
|
0.00004
|
|
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)
|
rs529442984
|
0.00004
|
|
NM_001005242.3(PKP2):c.2002G>A (p.Gly668Arg)
|
rs200844640
|
0.00004
|
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
|
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=)
|
rs147995773
|
0.00004
|
|
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val)
|
rs143503798
|
0.00004
|
|
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=)
|
rs139098675
|
0.00004
|
|
NM_001005242.3(PKP2):c.213C>T (p.Ser71=)
|
rs1173618581
|
0.00004
|
|
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln)
|
rs397517020
|
0.00004
|
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
|
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)
|
rs727504509
|
0.00004
|
|
NM_001005242.3(PKP2):c.2357+1G>A
|
rs111517471
|
0.00004
|
|
NM_001005242.3(PKP2):c.2480G>A (p.Arg827Gln)
|
rs372263407
|
0.00004
|
|
NM_001005242.3(PKP2):c.2504T>C (p.Leu835Pro)
|
rs775572104
|
0.00004
|
|
NM_001005242.3(PKP2):c.364C>T (p.Arg122Cys)
|
rs759377911
|
0.00004
|
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
|
NM_001005242.3(PKP2):c.468G>A (p.Pro156=)
|
rs756166702
|
0.00004
|
|
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn)
|
rs373222905
|
0.00004
|
|
NM_001005242.3(PKP2):c.634C>T (p.Arg212Cys)
|
rs766379716
|
0.00004
|
|
NM_001005242.3(PKP2):c.714G>A (p.Pro238=)
|
rs727503372
|
0.00004
|
|
NM_001005242.3(PKP2):c.950C>T (p.Ala317Val)
|
rs775318947
|
0.00004
|
|
NM_001005242.3(PKP2):c.953A>C (p.His318Pro)
|
rs181098323
|
0.00004
|
|
NM_001005242.3(PKP2):c.963C>T (p.Val321=)
|
rs202207343
|
0.00004
|
|
NM_001018004.2(TPM1):c.773-1153G>A
|
rs772871597
|
0.00004
|
|
NM_001018005.2(TPM1):c.249C>T (p.Ala83=)
|
rs200257214
|
0.00004
|
|
NM_001018005.2(TPM1):c.687C>T (p.Ser229=)
|
rs759362606
|
0.00004
|
|
NM_001018005.2(TPM1):c.773-3T>C
|
rs113759732
|
0.00004
|
|
NM_001018005.2(TPM1):c.783C>T (p.Tyr261=)
|
rs751001221
|
0.00004
|
|
NM_001018005.2(TPM1):c.851+7G>A
|
rs765721221
|
0.00004
|
|
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=)
|
rs754976419
|
0.00004
|
|
NM_001035.3(RYR2):c.10452G>T (p.Gly3484=)
|
rs199498105
|
0.00004
|
|
NM_001035.3(RYR2):c.10495-14A>G
|
rs727505057
|
0.00004
|
|
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met)
|
rs552050895
|
0.00004
|
|
NM_001035.3(RYR2):c.11115C>T (p.Asp3705=)
|
rs752297019
|
0.00004
|
|
NM_001035.3(RYR2):c.11382C>T (p.Ala3794=)
|
rs760519786
|
0.00004
|
|
NM_001035.3(RYR2):c.12084G>A (p.Ser4028=)
|
rs751821960
|
0.00004
|
|
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=)
|
rs756280887
|
0.00004
|
|
NM_001035.3(RYR2):c.12427A>C (p.Lys4143Gln)
|
rs750908017
|
0.00004
|
|
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly)
|
rs564822776
|
0.00004
|
|
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)
|
rs775477470
|
0.00004
|
|
NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)
|
rs758453646
|
0.00004
|
|
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=)
|
rs185482345
|
0.00004
|
|
NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His)
|
rs190009333
|
0.00004
|
|
NM_001035.3(RYR2):c.12944G>A (p.Gly4315Glu)
|
rs766109950
|
0.00004
|
|
NM_001035.3(RYR2):c.13254A>T (p.Lys4418Asn)
|
rs934659622
|
0.00004
|
|
NM_001035.3(RYR2):c.13293A>G (p.Glu4431=)
|
rs778248995
|
0.00004
|
|
NM_001035.3(RYR2):c.13398C>T (p.His4466=)
|
rs373913909
|
0.00004
|
|
NM_001035.3(RYR2):c.1358G>C (p.Ser453Thr)
|
rs761911597
|
0.00004
|
|
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe)
|
rs727504508
|
0.00004
|
|
NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp)
|
rs755308070
|
0.00004
|
|
NM_001035.3(RYR2):c.2512C>G (p.Arg838Gly)
|
rs1407524067
|
0.00004
|
|
NM_001035.3(RYR2):c.2521A>G (p.Lys841Glu)
|
rs563091152
|
0.00004
|
|
NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)
|
rs372569289
|
0.00004
|
|
NM_001035.3(RYR2):c.2629C>T (p.His877Tyr)
|
rs372575878
|
0.00004
|
|
NM_001035.3(RYR2):c.3025C>T (p.Arg1009Trp)
|
rs368040638
|
0.00004
|
|
NM_001035.3(RYR2):c.309G>A (p.Lys103=)
|
rs532274202
|
0.00004
|
|
NM_001035.3(RYR2):c.3372G>A (p.Pro1124=)
|
rs368017980
|
0.00004
|
|
NM_001035.3(RYR2):c.3397C>T (p.Arg1133Cys)
|
rs748085424
|
0.00004
|
|
NM_001035.3(RYR2):c.345C>T (p.Tyr115=)
|
rs397516525
|
0.00004
|
|
NM_001035.3(RYR2):c.3481G>C (p.Val1161Leu)
|
rs372761438
|
0.00004
|
|
NM_001035.3(RYR2):c.385-14T>C
|
rs372287944
|
0.00004
|
|
NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala)
|
rs773678614
|
0.00004
|
|
NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala)
|
rs1005458283
|
0.00004
|
|
NM_001035.3(RYR2):c.464-12G>A
|
rs766779504
|
0.00004
|
|
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)
|
rs201675951
|
0.00004
|
|
NM_001035.3(RYR2):c.4707A>G (p.Gly1569=)
|
rs761012789
|
0.00004
|
|
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=)
|
rs369323506
|
0.00004
|
|
NM_001035.3(RYR2):c.5238C>T (p.His1746=)
|
rs371966699
|
0.00004
|
|
NM_001035.3(RYR2):c.5508C>T (p.Asn1836=)
|
rs777640285
|
0.00004
|
|
NM_001035.3(RYR2):c.5550G>A (p.Val1850=)
|
rs764164889
|
0.00004
|
|
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)
|
rs770863319
|
0.00004
|
|
NM_001035.3(RYR2):c.5593G>A (p.Glu1865Lys)
|
rs553819263
|
0.00004
|
|
NM_001035.3(RYR2):c.5637T>C (p.Gly1879=)
|
rs751554639
|
0.00004
|
|
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)
|
rs200318013
|
0.00004
|
|
NM_001035.3(RYR2):c.6046T>A (p.Ser2016Thr)
|
rs575248331
|
0.00004
|
|
NM_001035.3(RYR2):c.6279C>T (p.Asp2093=)
|
rs771328006
|
0.00004
|
|
NM_001035.3(RYR2):c.6299G>A (p.Arg2100Gln)
|
rs796202631
|
0.00004
|
|
NM_001035.3(RYR2):c.6433G>C (p.Gly2145Arg)
|
rs587782974
|
0.00004
|
|
NM_001035.3(RYR2):c.677-13T>G
|
rs571476497
|
0.00004
|
|
NM_001035.3(RYR2):c.6780G>A (p.Pro2260=)
|
rs758855412
|
0.00004
|
|
NM_001035.3(RYR2):c.7076G>A (p.Arg2359Gln)
|
rs727504976
|
0.00004
|
|
NM_001035.3(RYR2):c.7386A>G (p.Pro2462=)
|
rs546545700
|
0.00004
|
|
NM_001035.3(RYR2):c.7428T>C (p.Tyr2476=)
|
rs770823825
|
0.00004
|
|
NM_001035.3(RYR2):c.7459C>A (p.Leu2487Ile)
|
rs748581317
|
0.00004
|
|
NM_001035.3(RYR2):c.7539C>G (p.Ala2513=)
|
rs745761104
|
0.00004
|
|
NM_001035.3(RYR2):c.7569C>T (p.Ala2523=)
|
rs748943528
|
0.00004
|
|
NM_001035.3(RYR2):c.7623C>T (p.His2541=)
|
rs753435083
|
0.00004
|
|
NM_001035.3(RYR2):c.8181C>T (p.His2727=)
|
rs746562398
|
0.00004
|
|
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)
|
rs397516550
|
0.00004
|
|
NM_001035.3(RYR2):c.8591-8A>G
|
rs1369273531
|
0.00004
|
|
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=)
|
rs774657844
|
0.00004
|
|
NM_001035.3(RYR2):c.950T>C (p.Met317Thr)
|
rs367601258
|
0.00004
|
|
NM_001035.3(RYR2):c.9736A>G (p.Met3246Val)
|
rs745839689
|
0.00004
|
|
NM_001035.3(RYR2):c.9783C>T (p.Ala3261=)
|
rs370556829
|
0.00004
|
|
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)
|
rs201669522
|
0.00004
|
|
NM_001040113.2(MYH11):c.5831C>T (p.Ser1944Leu)
|
rs754183610
|
0.00004
|
|
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser)
|
rs397516450
|
0.00004
|
|
NM_001276345.2(TNNT2):c.403G>A (p.Asp135Asn)
|
rs765359025
|
0.00004
|
|
NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln)
|
rs745632066
|
0.00004
|
|
NM_001276345.2(TNNT2):c.601-7G>A
|
rs369759523
|
0.00004
|
|
NM_001276345.2(TNNT2):c.706G>A (p.Glu236Lys)
|
rs730881107
|
0.00004
|
|
NM_001276345.2(TNNT2):c.720-13C>G
|
rs377714587
|
0.00004
|
|
NM_001276345.2(TNNT2):c.720-5T>G
|
rs730881092
|
0.00004
|
|
NM_001276345.2(TNNT2):c.720-7C>T
|
rs376303087
|
0.00004
|
|
NM_001276345.2(TNNT2):c.779T>C (p.Leu260Pro)
|
rs376037051
|
0.00004
|
|
NM_001276345.2(TNNT2):c.810+5G>A
|
rs730881113
|
0.00004
|
|
NM_001276345.2(TNNT2):c.882C>T (p.Thr294=)
|
rs45465693
|
0.00004
|
|
NM_001613.4(ACTA2):c.216G>A (p.Pro72=)
|
rs181255627
|
0.00004
|
|
NM_001613.4(ACTA2):c.324G>A (p.Thr108=)
|
rs750005327
|
0.00004
|
|
NM_001613.4(ACTA2):c.420G>A (p.Ala140=)
|
rs762567614
|
0.00004
|
|
NM_001613.4(ACTA2):c.607G>A (p.Val203Ile)
|
rs397516684
|
0.00004
|
|
NM_001613.4(ACTA2):c.60G>A (p.Lys20=)
|
rs373232511
|
0.00004
|
|
NM_001943.5(DSG2):c.-1G>C
|
rs1012160082
|
0.00004
|
|
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr)
|
rs201046640
|
0.00004
|
|
NM_001943.5(DSG2):c.1110T>C (p.Pro370=)
|
rs772805008
|
0.00004
|
|
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn)
|
rs397516701
|
0.00004
|
|
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg)
|
rs780469370
|
0.00004
|
|
NM_001943.5(DSG2):c.1837G>A (p.Ala613Thr)
|
rs368257724
|
0.00004
|
|
NM_001943.5(DSG2):c.1878A>G (p.Leu626=)
|
rs771576658
|
0.00004
|
|
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser)
|
rs200804638
|
0.00004
|
|
NM_001943.5(DSG2):c.1911C>T (p.Cys637=)
|
rs201654341
|
0.00004
|
|
NM_001943.5(DSG2):c.1920C>T (p.Gly640=)
|
rs775642244
|
0.00004
|
|
NM_001943.5(DSG2):c.2004G>A (p.Val668=)
|
rs773645222
|
0.00004
|
|
NM_001943.5(DSG2):c.2043A>T (p.Leu681=)
|
rs780836969
|
0.00004
|
|
NM_001943.5(DSG2):c.208A>G (p.Ile70Val)
|
rs769713919
|
0.00004
|
|
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)
|
rs771104668
|
0.00004
|
|
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly)
|
rs763315024
|
0.00004
|
|
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys)
|
rs201845396
|
0.00004
|
|
NM_001943.5(DSG2):c.273A>G (p.Gly91=)
|
rs376944801
|
0.00004
|
|
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val)
|
rs373598034
|
0.00004
|
|
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe)
|
rs141405267
|
0.00004
|
|
NM_001943.5(DSG2):c.3118G>A (p.Val1040Ile)
|
rs201966605
|
0.00004
|
|
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile)
|
rs767538450
|
0.00004
|
|
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys)
|
rs2848673
|
0.00004
|
|
NM_001943.5(DSG2):c.390C>T (p.Tyr130=)
|
rs369489095
|
0.00004
|
|
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys)
|
rs786204291
|
0.00004
|
|
NM_001943.5(DSG2):c.873G>A (p.Thr291=)
|
rs760706353
|
0.00004
|
|
NM_002474.3(MYH11):c.1527C>T (p.Ile509=)
|
rs564612796
|
0.00004
|
|
NM_002474.3(MYH11):c.1608C>T (p.Asp536=)
|
rs374769912
|
0.00004
|
|
NM_002474.3(MYH11):c.1768G>A (p.Ala590Thr)
|
rs745516001
|
0.00004
|
|
NM_002474.3(MYH11):c.1863C>T (p.Asp621=)
|
rs200158182
|
0.00004
|
|
NM_002474.3(MYH11):c.2016G>A (p.Thr672=)
|
rs374726567
|
0.00004
|
|
NM_002474.3(MYH11):c.2068C>G (p.Leu690Val)
|
rs775964675
|
0.00004
|
|
NM_002474.3(MYH11):c.2226C>T (p.Asp742=)
|
rs745850224
|
0.00004
|
|
NM_002474.3(MYH11):c.2272C>A (p.Pro758Thr)
|
rs147056835
|
0.00004
|
|
NM_002474.3(MYH11):c.2435A>G (p.Gln812Arg)
|
rs761891932
|
0.00004
|
|
NM_002474.3(MYH11):c.2579A>T (p.Glu860Val)
|
rs373789068
|
0.00004
|
|
NM_002474.3(MYH11):c.2592C>T (p.Thr864=)
|
rs771714041
|
0.00004
|
|
NM_002474.3(MYH11):c.2724G>T (p.Glu908Asp)
|
rs939496859
|
0.00004
|
|
NM_002474.3(MYH11):c.2860-14C>G
|
rs371582357
|
0.00004
|
|
NM_002474.3(MYH11):c.292G>A (p.Glu98Lys)
|
rs773587055
|
0.00004
|
|
NM_002474.3(MYH11):c.301G>A (p.Val101Met)
|
rs375159635
|
0.00004
|
|
NM_002474.3(MYH11):c.3030C>G (p.Asp1010Glu)
|
rs374785690
|
0.00004
|
|
NM_002474.3(MYH11):c.3227C>T (p.Ala1076Val)
|
rs371205331
|
0.00004
|
|
NM_002474.3(MYH11):c.3282G>A (p.Ala1094=)
|
rs200289373
|
0.00004
|
|
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met)
|
rs552818350
|
0.00004
|
|
NM_002474.3(MYH11):c.3563G>A (p.Arg1188Gln)
|
rs746615097
|
0.00004
|
|
NM_002474.3(MYH11):c.3817C>T (p.Arg1273Trp)
|
rs142227497
|
0.00004
|
|
NM_002474.3(MYH11):c.3963+6T>C
|
rs373371913
|
0.00004
|
|
NM_002474.3(MYH11):c.4008G>A (p.Thr1336=)
|
rs749476388
|
0.00004
|
|
NM_002474.3(MYH11):c.4236G>A (p.Ala1412=)
|
rs771460474
|
0.00004
|
|
NM_002474.3(MYH11):c.4315C>G (p.Gln1439Glu)
|
rs566506678
|
0.00004
|
|
NM_002474.3(MYH11):c.4319G>A (p.Arg1440Gln)
|
rs763467593
|
0.00004
|
|
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val)
|
rs370240337
|
0.00004
|
|
NM_002474.3(MYH11):c.4638G>A (p.Thr1546=)
|
rs141314621
|
0.00004
|
|
NM_002474.3(MYH11):c.4747C>T (p.Arg1583Trp)
|
rs777170587
|
0.00004
|
|
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn)
|
rs549820613
|
0.00004
|
|
NM_002474.3(MYH11):c.503-9T>C
|
rs554607161
|
0.00004
|
|
NM_002474.3(MYH11):c.5103G>T (p.Arg1701Ser)
|
rs777827294
|
0.00004
|
|
NM_002474.3(MYH11):c.5214C>T (p.Ile1738=)
|
rs1439627120
|
0.00004
|
|
NM_002474.3(MYH11):c.5379G>A (p.Gln1793=)
|
rs375230260
|
0.00004
|
|
NM_002474.3(MYH11):c.5454G>A (p.Ala1818=)
|
rs374486989
|
0.00004
|
|
NM_002474.3(MYH11):c.5595C>T (p.Ala1865=)
|
rs760286479
|
0.00004
|
|
NM_002474.3(MYH11):c.5607G>A (p.Lys1869=)
|
rs372546520
|
0.00004
|
|
NM_002474.3(MYH11):c.5616A>G (p.Ala1872=)
|
rs1328469024
|
0.00004
|
|
NM_002474.3(MYH11):c.5742C>T (p.Asn1914=)
|
rs146391904
|
0.00004
|
|
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr)
|
rs571504063
|
0.00004
|
|
NM_002474.3(MYH11):c.5808C>T (p.Phe1936=)
|
rs145505544
|
0.00004
|
|
NM_002474.3(MYH11):c.5873C>T (p.Thr1958Met)
|
rs149701021
|
0.00004
|
|
NM_002474.3(MYH11):c.5887G>A (p.Ala1963Thr)
|
rs146413415
|
0.00004
|
|
NM_002474.3(MYH11):c.588C>T (p.Ala196=)
|
rs766469189
|
0.00004
|
|
NM_002474.3(MYH11):c.769G>A (p.Val257Met)
|
rs112992497
|
0.00004
|
|
NM_002474.3(MYH11):c.831C>T (p.Asp277=)
|
rs113537940
|
0.00004
|
|
NM_002474.3(MYH11):c.935A>G (p.Asn312Ser)
|
rs149964928
|
0.00004
|
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
|
NM_003242.6(TGFBR2):c.126C>T (p.Asn42=)
|
rs574133875
|
0.00004
|
|
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala)
|
rs1050833
|
0.00004
|
|
NM_003242.6(TGFBR2):c.1569C>T (p.His523=)
|
rs760107571
|
0.00004
|
|
NM_003242.6(TGFBR2):c.609C>T (p.Thr203=)
|
rs769938385
|
0.00004
|
|
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met)
|
rs150022335
|
0.00004
|
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00004
|
|
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)
|
rs768508812
|
0.00004
|
|
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=)
|
rs878854612
|
0.00004
|
|
NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser)
|
rs751587466
|
0.00004
|
|
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)
|
rs200361387
|
0.00004
|
|
NM_003242.6(TGFBR2):c.95-3C>A
|
rs375330013
|
0.00004
|
|
NM_003242.6(TGFBR2):c.975C>T (p.Thr325=)
|
rs532098604
|
0.00004
|
|
NM_004415.4(DSP):c.1005A>G (p.Gln335=)
|
rs200961741
|
0.00004
|
|
NM_004415.4(DSP):c.1222A>C (p.Asn408His)
|
rs142129767
|
0.00004
|
|
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)
|
rs140403872
|
0.00004
|
|
NM_004415.4(DSP):c.1413A>G (p.Gln471=)
|
rs376983987
|
0.00004
|
|
NM_004415.4(DSP):c.1418A>G (p.Gln473Arg)
|
rs746802503
|
0.00004
|
|
NM_004415.4(DSP):c.1443G>A (p.Glu481=)
|
rs149126992
|
0.00004
|
|
NM_004415.4(DSP):c.1469G>A (p.Arg490His)
|
rs747815091
|
0.00004
|
|
NM_004415.4(DSP):c.2308G>A (p.Val770Ile)
|
rs1225927424
|
0.00004
|
|
NM_004415.4(DSP):c.2317C>T (p.Leu773=)
|
rs767433534
|
0.00004
|
|
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)
|
rs778350289
|
0.00004
|
|
NM_004415.4(DSP):c.2622C>G (p.Ile874Met)
|
rs751067479
|
0.00004
|
|
NM_004415.4(DSP):c.2631-5C>T
|
rs773772683
|
0.00004
|
|
NM_004415.4(DSP):c.264C>T (p.Ile88=)
|
rs727502997
|
0.00004
|
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
|
NM_004415.4(DSP):c.2735T>C (p.Leu912Ser)
|
rs765831604
|
0.00004
|
|
NM_004415.4(DSP):c.2796C>T (p.Asn932=)
|
rs368981849
|
0.00004
|
|
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr)
|
rs397516928
|
0.00004
|
|
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln)
|
rs374263890
|
0.00004
|
|
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg)
|
rs746482538
|
0.00004
|
|
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)
|
rs775594375
|
0.00004
|
|
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)
|
rs748109826
|
0.00004
|
|
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)
|
rs727505037
|
0.00004
|
|
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val)
|
rs201785897
|
0.00004
|
|
NM_004415.4(DSP):c.4752G>A (p.Ala1584=)
|
rs201213622
|
0.00004
|
|
NM_004415.4(DSP):c.4819G>A (p.Glu1607Lys)
|
rs750054075
|
0.00004
|
|
NM_004415.4(DSP):c.4915G>A (p.Val1639Met)
|
rs539587517
|
0.00004
|
|
NM_004415.4(DSP):c.4996C>T (p.Arg1666Trp)
|
rs758312365
|
0.00004
|
|
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)
|
rs768577891
|
0.00004
|
|
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp)
|
rs200336897
|
0.00004
|
|
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)
|
rs780224658
|
0.00004
|
|
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val)
|
rs749124581
|
0.00004
|
|
NM_004415.4(DSP):c.5522C>T (p.Ser1841Leu)
|
rs397516947
|
0.00004
|
|
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys)
|
rs550818559
|
0.00004
|
|
NM_004415.4(DSP):c.5668A>G (p.Arg1890Gly)
|
rs762079110
|
0.00004
|
|
NM_004415.4(DSP):c.5795G>A (p.Arg1932His)
|
rs770522444
|
0.00004
|
|
NM_004415.4(DSP):c.596G>A (p.Arg199Lys)
|
rs143648545
|
0.00004
|
|
NM_004415.4(DSP):c.598-4G>A
|
rs747448946
|
0.00004
|
|
NM_004415.4(DSP):c.6240C>T (p.Phe2080=)
|
rs757650857
|
0.00004
|
|
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr)
|
rs144539278
|
0.00004
|
|
NM_004415.4(DSP):c.7035A>G (p.Gly2345=)
|
rs780379988
|
0.00004
|
|
NM_004415.4(DSP):c.7128G>T (p.Gly2376=)
|
rs756684406
|
0.00004
|
|
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr)
|
rs371129517
|
0.00004
|
|
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile)
|
rs1478775642
|
0.00004
|
|
NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr)
|
rs764994940
|
0.00004
|
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
|
NM_004415.4(DSP):c.8229G>A (p.Gly2743=)
|
rs1060503979
|
0.00004
|
|
NM_004415.4(DSP):c.8259G>A (p.Lys2753=)
|
rs1005570207
|
0.00004
|
|
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)
|
rs753033333
|
0.00004
|
|
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)
|
rs764514210
|
0.00004
|
|
NM_004415.4(DSP):c.939C>T (p.Ser313=)
|
rs766580649
|
0.00004
|
|
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=)
|
rs758280185
|
0.00004
|
|
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser)
|
rs201050937
|
0.00004
|
|
NM_004612.4(TGFBR1):c.135T>C (p.Asn45=)
|
rs369226180
|
0.00004
|
|
NM_004612.4(TGFBR1):c.1479G>A (p.Ser493=)
|
rs144985585
|
0.00004
|
|
NM_005159.5(ACTC1):c.1053G>C (p.Leu351=)
|
rs151321743
|
0.00004
|
|
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)
|
rs397517057
|
0.00004
|
|
NM_005159.5(ACTC1):c.309C>T (p.His103=)
|
rs769303249
|
0.00004
|
|
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs)
|
rs730880387
|
0.00004
|
|
NM_005159.5(ACTC1):c.623G>A (p.Arg208His)
|
rs142839840
|
0.00004
|
|
NM_005159.5(ACTC1):c.652C>T (p.Leu218=)
|
rs760269526
|
0.00004
|
|
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=)
|
rs144245324
|
0.00004
|
|
NM_005902.4(SMAD3):c.1155-11A>G
|
rs184839478
|
0.00004
|
|
NM_005902.4(SMAD3):c.608-15T>C
|
rs371614939
|
0.00004
|
|
NM_005902.4(SMAD3):c.723C>T (p.Asn241=)
|
rs144667334
|
0.00004
|
|
NM_005902.4(SMAD3):c.74G>T (p.Gly25Val)
|
rs191612061
|
0.00004
|
|
NM_005902.4(SMAD3):c.872-12G>C
|
rs768529580
|
0.00004
|
|
NM_005902.4(SMAD3):c.879C>T (p.Gly293=)
|
rs769683236
|
0.00004
|
|
NM_016203.4(PRKAG2):c.1335C>T (p.Ile445=)
|
rs781153622
|
0.00004
|
|
NM_016203.4(PRKAG2):c.165C>T (p.Ser55=)
|
rs202056358
|
0.00004
|
|
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg)
|
rs397517266
|
0.00004
|
|
NM_016203.4(PRKAG2):c.1703C>T (p.Thr568Met)
|
rs540525001
|
0.00004
|
|
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=)
|
rs397517268
|
0.00004
|
|
NM_016203.4(PRKAG2):c.346C>T (p.Arg116Cys)
|
rs730880989
|
0.00004
|
|
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu)
|
rs876657963
|
0.00004
|
|
NM_016203.4(PRKAG2):c.489G>A (p.Pro163=)
|
rs556852534
|
0.00004
|
|
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu)
|
rs145669999
|
0.00004
|
|
NM_016203.4(PRKAG2):c.617C>T (p.Pro206Leu)
|
rs182084936
|
0.00004
|
|
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=)
|
rs201735117
|
0.00004
|
|
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=)
|
rs764162597
|
0.00004
|
|
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter)
|
rs778127887
|
0.00004
|
|
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu)
|
rs376514478
|
0.00004
|
|
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)
|
rs144334386
|
0.00004
|
|
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys)
|
rs201094625
|
0.00004
|
|
NM_024334.3(TMEM43):c.206C>T (p.Ser69Leu)
|
rs369779779
|
0.00004
|
|
NM_024334.3(TMEM43):c.231C>G (p.Ile77Met)
|
rs899266809
|
0.00004
|
|
NM_024334.3(TMEM43):c.310C>G (p.Pro104Ala)
|
rs775872602
|
0.00004
|
|
NM_024334.3(TMEM43):c.402C>T (p.Thr134=)
|
rs370422391
|
0.00004
|
|
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg)
|
rs397517384
|
0.00004
|
|
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter)
|
rs1423539317
|
0.00004
|
|
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter)
|
rs147336367
|
0.00004
|
|
NM_024334.3(TMEM43):c.518T>C (p.Met173Thr)
|
rs373023080
|
0.00004
|
|
NM_024334.3(TMEM43):c.579G>A (p.Ser193=)
|
rs369319499
|
0.00004
|
|
NM_024334.3(TMEM43):c.624A>G (p.Leu208=)
|
rs527942696
|
0.00004
|
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
|
NM_024334.3(TMEM43):c.750C>T (p.Gly250=)
|
rs374222050
|
0.00004
|
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
|
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr)
|
rs777688726
|
0.00004
|
|
NM_024422.6(DSC2):c.1176T>C (p.Asn392=)
|
rs769365346
|
0.00004
|
|
NM_024422.6(DSC2):c.1308T>C (p.Gly436=)
|
rs762786487
|
0.00004
|
|
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu)
|
rs397517394
|
0.00004
|
|
NM_024422.6(DSC2):c.1776G>A (p.Ala592=)
|
rs727502980
|
0.00004
|
|
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn)
|
rs762055797
|
0.00004
|
|
NM_024422.6(DSC2):c.2202G>A (p.Gln734=)
|
rs775922060
|
0.00004
|
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
|
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu)
|
rs766828422
|
0.00004
|
|
NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys)
|
rs369761766
|
0.00004
|
|
NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys)
|
rs758950880
|
0.00004
|
|
NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu)
|
rs202031070
|
0.00004
|
|
NM_024422.6(DSC2):c.286A>G (p.Ile96Val)
|
rs772447450
|
0.00004
|
|
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)
|
rs200218585
|
0.00004
|
|
NM_024422.6(DSC2):c.408A>G (p.Arg136=)
|
rs561653481
|
0.00004
|
|
NM_024422.6(DSC2):c.669A>G (p.Pro223=)
|
rs923697621
|
0.00004
|
|
NM_024422.6(DSC2):c.70-7T>G
|
rs184341263
|
0.00004
|
|
NM_024422.6(DSC2):c.776-12T>G
|
rs397517403
|
0.00004
|
|
NM_024422.6(DSC2):c.914C>T (p.Thr305Ile)
|
rs1270395120
|
0.00004
|
|
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)
|
rs374726751
|
0.00004
|
|
NM_170707.4(LMNA):c.1196G>A (p.Arg399His)
|
rs267607563
|
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.1311C>T (p.Ser437=)
|
rs763224059
|
0.00004
|
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
|
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892
|
0.00004
|
|
NM_170707.4(LMNA):c.1664A>G (p.Asp555Gly)
|
rs141578711
|
0.00004
|
|
NM_170707.4(LMNA):c.1698+25C>T
|
rs727504435
|
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.726G>A (p.Ala242=)
|
rs763625309
|
0.00004
|
|
NM_170707.4(LMNA):c.837G>A (p.Glu279=)
|
rs727505198
|
0.00004
|
|
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)
|
rs765241364
|
0.00004
|
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
|
NM_000090.4(COL3A1):c.1176T>C (p.Pro392=)
|
rs778702019
|
0.00003
|
|
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=)
|
rs755731385
|
0.00003
|
|
NM_000090.4(COL3A1):c.1509+2T>C
|
rs1553508039
|
0.00003
|
|
NM_000090.4(COL3A1):c.1584C>T (p.Gly528=)
|
rs946270867
|
0.00003
|
|
NM_000090.4(COL3A1):c.1662C>T (p.Pro554=)
|
rs373963384
|
0.00003
|
|
NM_000090.4(COL3A1):c.1787G>A (p.Arg596Gln)
|
rs774632188
|
0.00003
|
|
NM_000090.4(COL3A1):c.1816-4T>C
|
rs765128089
|
0.00003
|
|
NM_000090.4(COL3A1):c.2022+6A>T
|
rs368117488
|
0.00003
|
|
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser)
|
rs372027308
|
0.00003
|
|
NM_000090.4(COL3A1):c.2125G>T (p.Ala709Ser)
|
rs201468881
|
0.00003
|
|
NM_000090.4(COL3A1):c.2305C>T (p.Pro769Ser)
|
rs746504108
|
0.00003
|
|
NM_000090.4(COL3A1):c.2446-10T>C
|
rs1060500195
|
0.00003
|
|
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=)
|
rs794727586
|
0.00003
|
|
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=)
|
rs369992399
|
0.00003
|
|
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=)
|
rs574331101
|
0.00003
|
|
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg)
|
rs778419091
|
0.00003
|
|
NM_000090.4(COL3A1):c.39C>T (p.Leu13=)
|
rs1343634872
|
0.00003
|
|
NM_000090.4(COL3A1):c.708C>T (p.Pro236=)
|
rs775390389
|
0.00003
|
|
NM_000090.4(COL3A1):c.956C>T (p.Ala319Val)
|
rs754503346
|
0.00003
|
|
NM_000138.5(FBN1):c.1158C>T (p.Asn386=)
|
rs368737502
|
0.00003
|
|
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu)
|
rs146044644
|
0.00003
|
|
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)
|
rs762400500
|
0.00003
|
|
NM_000138.5(FBN1):c.164+5A>G
|
rs397515760
|
0.00003
|
|
NM_000138.5(FBN1):c.1668G>A (p.Val556=)
|
rs761662654
|
0.00003
|
|
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe)
|
rs767293952
|
0.00003
|
|
NM_000138.5(FBN1):c.1992A>T (p.Gly664=)
|
rs183929553
|
0.00003
|
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
|
NM_000138.5(FBN1):c.2142G>A (p.Gly714=)
|
rs1423523072
|
0.00003
|
|
NM_000138.5(FBN1):c.2658G>A (p.Pro886=)
|
rs193922192
|
0.00003
|
|
NM_000138.5(FBN1):c.2729-8C>G
|
rs775257418
|
0.00003
|
|
NM_000138.5(FBN1):c.2745A>G (p.Glu915=)
|
rs1285398012
|
0.00003
|
|
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)
|
rs199682686
|
0.00003
|
|
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=)
|
rs757177349
|
0.00003
|
|
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys)
|
rs186805359
|
0.00003
|
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
|
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val)
|
rs539103389
|
0.00003
|
|
NM_000138.5(FBN1):c.3480G>A (p.Glu1160=)
|
rs149625173
|
0.00003
|
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
|
NM_000138.5(FBN1):c.3906A>G (p.Ser1302=)
|
rs756186103
|
0.00003
|
|
NM_000138.5(FBN1):c.4337-5C>G
|
rs370959127
|
0.00003
|
|
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)
|
rs587782946
|
0.00003
|
|
NM_000138.5(FBN1):c.4413G>A (p.Glu1471=)
|
rs756143911
|
0.00003
|
|
NM_000138.5(FBN1):c.442+1G>A
|
rs868403743
|
0.00003
|
|
NM_000138.5(FBN1):c.4460-9C>T
|
rs372753740
|
0.00003
|
|
NM_000138.5(FBN1):c.4583-11A>G
|
rs780024463
|
0.00003
|
|
NM_000138.5(FBN1):c.4650C>T (p.Ser1550=)
|
rs933962712
|
0.00003
|
|
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=)
|
rs761947423
|
0.00003
|
|
NM_000138.5(FBN1):c.4803C>T (p.Thr1601=)
|
rs747757998
|
0.00003
|
|
NM_000138.5(FBN1):c.5066-7C>G
|
rs377369765
|
0.00003
|
|
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp)
|
rs767884599
|
0.00003
|
|
NM_000138.5(FBN1):c.5466C>T (p.Ala1822=)
|
rs947248042
|
0.00003
|
|
NM_000138.5(FBN1):c.5517C>T (p.Tyr1839=)
|
rs750667880
|
0.00003
|
|
NM_000138.5(FBN1):c.5841C>T (p.Cys1947=)
|
rs151181806
|
0.00003
|
|
NM_000138.5(FBN1):c.6044A>T (p.Asp2015Val)
|
rs746719632
|
0.00003
|
|
NM_000138.5(FBN1):c.6338A>T (p.Tyr2113Phe)
|
rs363816
|
0.00003
|
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
|
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile)
|
rs778027769
|
0.00003
|
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
|
NM_000138.5(FBN1):c.6903C>T (p.Ile2301=)
|
rs146930301
|
0.00003
|
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
|
NM_000138.5(FBN1):c.7395T>C (p.Ser2465=)
|
rs774341590
|
0.00003
|
|
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg)
|
rs747777955
|
0.00003
|
|
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg)
|
rs374630707
|
0.00003
|
|
NM_000138.5(FBN1):c.7677T>C (p.Asp2559=)
|
rs182358927
|
0.00003
|
|
NM_000138.5(FBN1):c.7684G>A (p.Gly2562Ser)
|
rs1397580172
|
0.00003
|
|
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=)
|
rs764496589
|
0.00003
|
|
NM_000138.5(FBN1):c.7872C>T (p.Asn2624=)
|
rs539185798
|
0.00003
|
|
NM_000138.5(FBN1):c.8069T>G (p.Met2690Arg)
|
rs747476726
|
0.00003
|
|
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)
|
rs113904256
|
0.00003
|
|
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)
|
rs193922242
|
0.00003
|
|
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys)
|
rs750199580
|
0.00003
|
|
NM_000138.5(FBN1):c.8433G>A (p.Gly2811=)
|
rs771873118
|
0.00003
|
|
NM_000138.5(FBN1):c.8616A>G (p.Ter2872=)
|
rs374499193
|
0.00003
|
|
NM_000138.5(FBN1):c.885T>G (p.Ile295Met)
|
rs151056963
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1197C>A (p.Ala399=)
|
rs756413033
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1238A>G (p.Lys413Arg)
|
rs1351149628
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn)
|
rs747704276
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1378G>A (p.Gly460Ser)
|
rs199472783
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1379G>A (p.Gly460Asp)
|
rs770410327
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1514+3G>A
|
rs374767819
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys)
|
rs199472787
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1767C>T (p.Gly589=)
|
rs368364062
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1881C>T (p.Ser627=)
|
rs781272088
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser)
|
rs763478809
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=)
|
rs201698592
|
0.00003
|
|
NM_000218.3(KCNQ1):c.2016C>T (p.Pro672=)
|
rs751946698
|
0.00003
|
|
NM_000218.3(KCNQ1):c.484G>A (p.Val162Met)
|
rs199472692
|
0.00003
|
|
NM_000218.3(KCNQ1):c.501C>T (p.Phe167=)
|
rs774085613
|
0.00003
|
|
NM_000218.3(KCNQ1):c.618C>T (p.Val206=)
|
rs772565627
|
0.00003
|
|
NM_000218.3(KCNQ1):c.675G>A (p.Ser225=)
|
rs148566141
|
0.00003
|
|
NM_000218.3(KCNQ1):c.683+3G>A
|
rs1025802726
|
0.00003
|
|
NM_000218.3(KCNQ1):c.719A>G (p.His240Arg)
|
rs533669726
|
0.00003
|
|
NM_000218.3(KCNQ1):c.858C>T (p.Asp286=)
|
rs760047145
|
0.00003
|
|
NM_000218.3(KCNQ1):c.930C>A (p.Val310=)
|
rs766494998
|
0.00003
|
|
NM_000218.3(KCNQ1):c.966G>A (p.Thr322=)
|
rs777450662
|
0.00003
|
|
NM_000238.4(KCNH2):c.1067G>A (p.Arg356His)
|
rs730880118
|
0.00003
|
|
NM_000238.4(KCNH2):c.1128+1830C>T
|
rs778819756
|
0.00003
|
|
NM_000238.4(KCNH2):c.1128+1852G>A
|
rs780068180
|
0.00003
|
|
NM_000238.4(KCNH2):c.1648C>T (p.Leu550=)
|
rs773783499
|
0.00003
|
|
NM_000238.4(KCNH2):c.1749C>T (p.Ile583=)
|
rs765893780
|
0.00003
|
|
NM_000238.4(KCNH2):c.1887C>T (p.Asn629=)
|
rs41307295
|
0.00003
|
|
NM_000238.4(KCNH2):c.1974C>T (p.Asn658=)
|
rs553107049
|
0.00003
|
|
NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val)
|
rs780656919
|
0.00003
|
|
NM_000238.4(KCNH2):c.2457C>T (p.Asn819=)
|
rs768725008
|
0.00003
|
|
NM_000238.4(KCNH2):c.2595C>T (p.Thr865=)
|
rs762327995
|
0.00003
|
|
NM_000238.4(KCNH2):c.2600T>C (p.Met867Thr)
|
rs752020408
|
0.00003
|
|
NM_000238.4(KCNH2):c.2607G>A (p.Pro869=)
|
rs199828796
|
0.00003
|
|
NM_000238.4(KCNH2):c.2624C>T (p.Thr875Met)
|
rs140743924
|
0.00003
|
|
NM_000238.4(KCNH2):c.2735G>A (p.Arg912Gln)
|
rs958442820
|
0.00003
|
|
NM_000238.4(KCNH2):c.2770G>T (p.Gly924Trp)
|
rs794728397
|
0.00003
|
|
NM_000238.4(KCNH2):c.2792C>T (p.Pro931Leu)
|
rs749759697
|
0.00003
|
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
|
NM_000238.4(KCNH2):c.2886G>A (p.Arg962=)
|
rs774873967
|
0.00003
|
|
NM_000238.4(KCNH2):c.2892C>T (p.Pro964=)
|
rs769972412
|
0.00003
|
|
NM_000238.4(KCNH2):c.2902C>G (p.Pro968Ala)
|
rs753788508
|
0.00003
|
|
NM_000238.4(KCNH2):c.3072C>T (p.Asn1024=)
|
rs781274793
|
0.00003
|
|
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp)
|
rs373394254
|
0.00003
|
|
NM_000238.4(KCNH2):c.3153-4C>T
|
rs181119727
|
0.00003
|
|
NM_000238.4(KCNH2):c.3162C>G (p.Thr1054=)
|
rs368701315
|
0.00003
|
|
NM_000238.4(KCNH2):c.3224C>T (p.Pro1075Leu)
|
rs199473028
|
0.00003
|
|
NM_000238.4(KCNH2):c.3225G>A (p.Pro1075=)
|
rs778119775
|
0.00003
|
|
NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala)
|
rs751559990
|
0.00003
|
|
NM_000238.4(KCNH2):c.3365C>T (p.Pro1122Leu)
|
rs531460655
|
0.00003
|
|
NM_000238.4(KCNH2):c.3459C>T (p.His1153=)
|
rs755599756
|
0.00003
|
|
NM_000238.4(KCNH2):c.3470C>T (p.Pro1157Leu)
|
rs143167166
|
0.00003
|
|
NM_000238.4(KCNH2):c.383A>G (p.Asn128Ser)
|
rs200343670
|
0.00003
|
|
NM_000238.4(KCNH2):c.76+3G>A
|
rs779301847
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1021G>A (p.Gly341Ser)
|
rs397515881
|
0.00003
|
|
NM_000256.3(MYBPC3):c.103C>T (p.Arg35Trp)
|
rs727504249
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1072G>A (p.Asp358Asn)
|
rs746267533
|
0.00003
|
|
NM_000256.3(MYBPC3):c.121C>T (p.Arg41Cys)
|
rs373638535
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1224-52G>A
|
rs786204336
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu)
|
rs1269517446
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1293C>T (p.Asp431=)
|
rs763808974
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1308C>T (p.Cys436=)
|
rs759826878
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)
|
rs397515907
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1601C>T (p.Ala534Val)
|
rs374349666
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1624+4A>T
|
rs397515916
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1670G>A (p.Gly557Asp)
|
rs730880549
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1758C>T (p.Pro586=)
|
rs727505203
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1785C>T (p.Ile595=)
|
rs572227730
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1816G>A (p.Val606Ile)
|
rs368482358
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)
|
rs371564200
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1842C>T (p.Tyr614=)
|
rs774488435
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2010C>T (p.Asp670=)
|
rs558051480
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2063C>A (p.Thr688Lys)
|
rs3729946
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2064G>A (p.Thr688=)
|
rs758224257
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2178C>T (p.Arg726=)
|
rs370676057
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His)
|
rs534345197
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2211G>A (p.Thr737=)
|
rs113265977
|
0.00003
|
|
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)
|
rs375471260
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met)
|
rs727503189
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2511C>T (p.Ile837=)
|
rs542181308
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2562G>A (p.Met854Ile)
|
rs730880572
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2683C>T (p.Arg895Cys)
|
rs374976635
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2908C>T (p.Arg970Trp)
|
rs730880138
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln)
|
rs727504346
|
0.00003
|
|
NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu)
|
rs730880610
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3154A>G (p.Met1052Val)
|
rs730880589
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)
|
rs397516005
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3191-7C>T
|
rs373012629
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=)
|
rs200372325
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3343G>A (p.Val1115Ile)
|
rs531189495
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3470C>T (p.Pro1157Leu)
|
rs373304680
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile)
|
rs542350927
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3498C>G (p.Thr1166=)
|
rs373620343
|
0.00003
|
|
NM_000256.3(MYBPC3):c.363G>A (p.Pro121=)
|
rs780768974
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=)
|
rs543376073
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3777G>A (p.Gln1259=)
|
rs746042492
|
0.00003
|
|
NM_000256.3(MYBPC3):c.405A>G (p.Lys135=)
|
rs727504318
|
0.00003
|
|
NM_000256.3(MYBPC3):c.437C>T (p.Thr146Ile)
|
rs780458215
|
0.00003
|
|
NM_000256.3(MYBPC3):c.558G>A (p.Pro186=)
|
rs370962887
|
0.00003
|
|
NM_000256.3(MYBPC3):c.659A>G (p.Tyr220Cys)
|
rs779693951
|
0.00003
|
|
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys)
|
rs397516069
|
0.00003
|
|
NM_000256.3(MYBPC3):c.669G>A (p.Glu223=)
|
rs778582048
|
0.00003
|
|
NM_000256.3(MYBPC3):c.67G>A (p.Ala23Thr)
|
rs758044508
|
0.00003
|
|
NM_000256.3(MYBPC3):c.758A>G (p.Asn253Ser)
|
rs727503214
|
0.00003
|
|
NM_000256.3(MYBPC3):c.841C>T (p.Arg281Trp)
|
rs371711564
|
0.00003
|
|
NM_000256.3(MYBPC3):c.852-14G>T
|
rs751278539
|
0.00003
|
|
NM_000256.3(MYBPC3):c.924G>A (p.Pro308=)
|
rs771875597
|
0.00003
|
|
NM_000256.3(MYBPC3):c.927-10C>T
|
rs201078659
|
0.00003
|
|
NM_000256.3(MYBPC3):c.994G>A (p.Glu332Lys)
|
rs397516086
|
0.00003
|
|
NM_000257.4(MYH7):c.1325G>A (p.Arg442His)
|
rs730880870
|
0.00003
|
|
NM_000257.4(MYH7):c.1413C>T (p.Asn471=)
|
rs760737402
|
0.00003
|
|
NM_000257.4(MYH7):c.1446C>T (p.Asn482=)
|
rs775745470
|
0.00003
|
|
NM_000257.4(MYH7):c.1579-9C>T
|
rs746693128
|
0.00003
|
|
NM_000257.4(MYH7):c.1608G>A (p.Glu536=)
|
rs397516115
|
0.00003
|
|
NM_000257.4(MYH7):c.161G>A (p.Arg54Gln)
|
rs397516117
|
0.00003
|
|
NM_000257.4(MYH7):c.1632C>T (p.Thr544=)
|
rs587781089
|
0.00003
|
|
NM_000257.4(MYH7):c.166G>A (p.Gly56Ser)
|
rs759500431
|
0.00003
|
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
|
NM_000257.4(MYH7):c.2040T>C (p.Ser680=)
|
rs200980487
|
0.00003
|
|
NM_000257.4(MYH7):c.2081G>A (p.Arg694His)
|
rs886039030
|
0.00003
|
|
NM_000257.4(MYH7):c.2295C>T (p.Phe765=)
|
rs1490366072
|
0.00003
|
|
NM_000257.4(MYH7):c.2305C>T (p.Leu769=)
|
rs45606737
|
0.00003
|
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
|
NM_000257.4(MYH7):c.2599G>A (p.Glu867Lys)
|
rs558673680
|
0.00003
|
|
NM_000257.4(MYH7):c.2658C>T (p.Asp886=)
|
rs765948561
|
0.00003
|
|
NM_000257.4(MYH7):c.2859C>T (p.Asp953=)
|
rs370800700
|
0.00003
|
|
NM_000257.4(MYH7):c.3100-2A>C
|
rs759013925
|
0.00003
|
|
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)
|
rs45611033
|
0.00003
|
|
NM_000257.4(MYH7):c.3134G>A (p.Arg1045His)
|
rs397516178
|
0.00003
|
|
NM_000257.4(MYH7):c.3407G>T (p.Arg1136Leu)
|
rs730880905
|
0.00003
|
|
NM_000257.4(MYH7):c.3666C>T (p.Ser1222=)
|
rs397516191
|
0.00003
|
|
NM_000257.4(MYH7):c.3779G>A (p.Arg1260Gln)
|
rs747308839
|
0.00003
|
|
NM_000257.4(MYH7):c.4065C>T (p.Ala1355=)
|
rs142469226
|
0.00003
|
|
NM_000257.4(MYH7):c.4170-15C>A
|
rs370438666
|
0.00003
|
|
NM_000257.4(MYH7):c.4215G>A (p.Glu1405=)
|
rs748551470
|
0.00003
|
|
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)
|
rs727503278
|
0.00003
|
|
NM_000257.4(MYH7):c.4668C>A (p.Gly1556=)
|
rs762762532
|
0.00003
|
|
NM_000257.4(MYH7):c.4868A>G (p.Asn1623Ser)
|
rs1306407579
|
0.00003
|
|
NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr)
|
rs565663412
|
0.00003
|
|
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys)
|
rs45511396
|
0.00003
|
|
NM_000257.4(MYH7):c.5070C>G (p.Ala1690=)
|
rs764844610
|
0.00003
|
|
NM_000257.4(MYH7):c.5088G>C (p.Glu1696Asp)
|
rs373219734
|
0.00003
|
|
NM_000257.4(MYH7):c.5280G>A (p.Thr1760=)
|
rs374803185
|
0.00003
|
|
NM_000257.4(MYH7):c.531C>T (p.Thr177=)
|
rs200035152
|
0.00003
|
|
NM_000257.4(MYH7):c.5409C>T (p.Ile1803=)
|
rs779713933
|
0.00003
|
|
NM_000257.4(MYH7):c.540C>A (p.Ser180=)
|
rs369490861
|
0.00003
|
|
NM_000257.4(MYH7):c.5471A>G (p.Asn1824Ser)
|
rs760218400
|
0.00003
|
|
NM_000257.4(MYH7):c.5481G>A (p.Glu1827=)
|
rs368848344
|
0.00003
|
|
NM_000257.4(MYH7):c.5560-14C>A
|
rs375621171
|
0.00003
|
|
NM_000257.4(MYH7):c.5637G>A (p.Lys1879=)
|
rs367580423
|
0.00003
|
|
NM_000257.4(MYH7):c.5656-5C>T
|
rs200231434
|
0.00003
|
|
NM_000257.4(MYH7):c.5689C>T (p.Arg1897Cys)
|
rs756655803
|
0.00003
|
|
NM_000257.4(MYH7):c.639+5G>T
|
rs765724983
|
0.00003
|
|
NM_000258.3(MYL3):c.245C>T (p.Ala82Val)
|
rs752549068
|
0.00003
|
|
NM_000258.3(MYL3):c.477G>A (p.Thr159=)
|
rs148365503
|
0.00003
|
|
NM_000258.3(MYL3):c.92G>A (p.Arg31His)
|
rs199639940
|
0.00003
|
|
NM_000335.5(SCN5A):c.102C>T (p.Arg34=)
|
rs41313239
|
0.00003
|
|
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)
|
rs199473101
|
0.00003
|
|
NM_000335.5(SCN5A):c.1188C>T (p.Val396=)
|
rs749683415
|
0.00003
|
|
NM_000335.5(SCN5A):c.1365C>T (p.Thr455=)
|
rs747138429
|
0.00003
|
|
NM_000335.5(SCN5A):c.1366G>A (p.Val456Met)
|
rs760016062
|
0.00003
|
|
NM_000335.5(SCN5A):c.1557T>C (p.Ser519=)
|
rs371560571
|
0.00003
|
|
NM_000335.5(SCN5A):c.1558A>G (p.Met520Val)
|
rs769799503
|
0.00003
|
|
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His)
|
rs45627438
|
0.00003
|
|
NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys)
|
rs199473123
|
0.00003
|
|
NM_000335.5(SCN5A):c.1703G>A (p.Arg568His)
|
rs199473125
|
0.00003
|
|
NM_000335.5(SCN5A):c.1706G>A (p.Arg569Gln)
|
rs769292594
|
0.00003
|
|
NM_000335.5(SCN5A):c.1800G>A (p.Val600=)
|
rs758101066
|
0.00003
|
|
NM_000335.5(SCN5A):c.1859G>A (p.Arg620His)
|
rs746504626
|
0.00003
|
|
NM_000335.5(SCN5A):c.1880C>T (p.Pro627Leu)
|
rs778522112
|
0.00003
|
|
NM_000335.5(SCN5A):c.1901C>T (p.Ser634Leu)
|
rs568517614
|
0.00003
|
|
NM_000335.5(SCN5A):c.21T>A (p.Pro7=)
|
rs587781157
|
0.00003
|
|
NM_000335.5(SCN5A):c.2205G>A (p.Ala735=)
|
rs376259799
|
0.00003
|
|
NM_000335.5(SCN5A):c.2253C>T (p.Val751=)
|
rs371649934
|
0.00003
|
|
NM_000335.5(SCN5A):c.2364C>T (p.Ile788=)
|
rs183177363
|
0.00003
|
|
NM_000335.5(SCN5A):c.25G>A (p.Gly9Ser)
|
rs756805318
|
0.00003
|
|
NM_000335.5(SCN5A):c.2640C>T (p.His880=)
|
rs1187729846
|
0.00003
|
|
NM_000335.5(SCN5A):c.2700C>T (p.Ile900=)
|
rs202103107
|
0.00003
|
|
NM_000335.5(SCN5A):c.2745C>T (p.Cys915=)
|
rs372782494
|
0.00003
|
|
NM_000335.5(SCN5A):c.275C>T (p.Thr92Ile)
|
rs765675330
|
0.00003
|
|
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln)
|
rs753149586
|
0.00003
|
|
NM_000335.5(SCN5A):c.2948G>A (p.Gly983Asp)
|
rs766096031
|
0.00003
|
|
NM_000335.5(SCN5A):c.3003G>C (p.Leu1001=)
|
rs758064769
|
0.00003
|
|
NM_000335.5(SCN5A):c.3033G>C (p.Pro1011=)
|
rs764425131
|
0.00003
|
|
NM_000335.5(SCN5A):c.3048G>A (p.Thr1016=)
|
rs376734571
|
0.00003
|
|
NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=)
|
rs755980331
|
0.00003
|
|
NM_000335.5(SCN5A):c.3156C>T (p.Ala1052=)
|
rs748975536
|
0.00003
|
|
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met)
|
rs199473187
|
0.00003
|
|
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu)
|
rs199473191
|
0.00003
|
|
NM_000335.5(SCN5A):c.3322A>G (p.Ser1108Gly)
|
rs771989860
|
0.00003
|
|
NM_000335.5(SCN5A):c.3389C>T (p.Thr1130Ile)
|
rs199473197
|
0.00003
|
|
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile)
|
rs557957405
|
0.00003
|
|
NM_000335.5(SCN5A):c.3460C>T (p.Pro1154Ser)
|
rs781103369
|
0.00003
|
|
NM_000335.5(SCN5A):c.3517C>T (p.Arg1173Trp)
|
rs367906630
|
0.00003
|
|
NM_000335.5(SCN5A):c.3539T>C (p.Val1180Ala)
|
rs376965389
|
0.00003
|
|
NM_000335.5(SCN5A):c.3663+4C>G
|
rs539737269
|
0.00003
|
|
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln)
|
rs199473211
|
0.00003
|
|
NM_000335.5(SCN5A):c.3747C>T (p.Phe1249=)
|
rs756102773
|
0.00003
|
|
NM_000335.5(SCN5A):c.3831C>T (p.Ile1277=)
|
rs778600514
|
0.00003
|
|
NM_000335.5(SCN5A):c.3837C>T (p.Asp1279=)
|
rs749069817
|
0.00003
|
|
NM_000335.5(SCN5A):c.3879C>T (p.Ala1293=)
|
rs372132916
|
0.00003
|
|
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His)
|
rs730880207
|
0.00003
|
|
NM_000335.5(SCN5A):c.393-1C>T
|
rs759235726
|
0.00003
|
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
|
NM_000335.5(SCN5A):c.4128C>T (p.Ile1376=)
|
rs769790752
|
0.00003
|
|
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser)
|
rs200034939
|
0.00003
|
|
NM_000335.5(SCN5A):c.4339A>C (p.Ile1447Leu)
|
rs199473250
|
0.00003
|
|
NM_000335.5(SCN5A):c.44G>C (p.Arg15Thr)
|
rs373410109
|
0.00003
|
|
NM_000335.5(SCN5A):c.476A>G (p.Tyr159Cys)
|
rs767116750
|
0.00003
|
|
NM_000335.5(SCN5A):c.4864C>A (p.Arg1622=)
|
rs137854613
|
0.00003
|
|
NM_000335.5(SCN5A):c.4914G>A (p.Gly1638=)
|
rs1419998623
|
0.00003
|
|
NM_000335.5(SCN5A):c.5030A>G (p.Asn1677Ser)
|
rs756946727
|
0.00003
|
|
NM_000335.5(SCN5A):c.5124G>A (p.Thr1708=)
|
rs747409815
|
0.00003
|
|
NM_000335.5(SCN5A):c.5346C>T (p.Thr1782=)
|
rs868549221
|
0.00003
|
|
NM_000335.5(SCN5A):c.536G>A (p.Arg179Gln)
|
rs760585484
|
0.00003
|
|
NM_000335.5(SCN5A):c.5371G>A (p.Asp1791Asn)
|
rs727504495
|
0.00003
|
|
NM_000335.5(SCN5A):c.5464G>A (p.Glu1822Lys)
|
rs760837591
|
0.00003
|
|
NM_000335.5(SCN5A):c.5479G>A (p.Ala1827Thr)
|
rs774593360
|
0.00003
|
|
NM_000335.5(SCN5A):c.552C>T (p.His184=)
|
rs770959082
|
0.00003
|
|
NM_000335.5(SCN5A):c.5642C>T (p.Ala1881Val)
|
rs1414155457
|
0.00003
|
|
NM_000335.5(SCN5A):c.5665G>A (p.Glu1889Lys)
|
rs766875593
|
0.00003
|
|
NM_000335.5(SCN5A):c.5747T>C (p.Leu1916Pro)
|
rs765713843
|
0.00003
|
|
NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys)
|
rs199473328
|
0.00003
|
|
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr)
|
rs137854603
|
0.00003
|
|
NM_000335.5(SCN5A):c.5782C>T (p.Arg1928Cys)
|
rs267599786
|
0.00003
|
|
NM_000335.5(SCN5A):c.5809G>A (p.Glu1937Lys)
|
rs199473329
|
0.00003
|
|
NM_000335.5(SCN5A):c.5945C>G (p.Ala1982Gly)
|
rs771243543
|
0.00003
|
|
NM_000335.5(SCN5A):c.5948C>T (p.Thr1983Ile)
|
rs778230530
|
0.00003
|
|
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp)
|
rs371308670
|
0.00003
|
|
NM_000335.5(SCN5A):c.5997T>C (p.Asp1999=)
|
rs759522701
|
0.00003
|
|
NM_000335.5(SCN5A):c.6020C>T (p.Pro2007Leu)
|
rs750070697
|
0.00003
|
|
NM_000335.5(SCN5A):c.6025A>G (p.Arg2009Gly)
|
rs753744525
|
0.00003
|
|
NM_000335.5(SCN5A):c.718G>A (p.Val240Met)
|
rs199473076
|
0.00003
|
|
NM_000335.5(SCN5A):c.801C>T (p.Ile267=)
|
rs45587735
|
0.00003
|
|
NM_000335.5(SCN5A):c.891C>T (p.Asp297=)
|
rs529144420
|
0.00003
|
|
NM_000335.5(SCN5A):c.935-4A>G
|
rs774195372
|
0.00003
|
|
NM_000363.5(TNNI3):c.-8G>A
|
rs773513015
|
0.00003
|
|
NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr)
|
rs374618872
|
0.00003
|
|
NM_000363.5(TNNI3):c.373-13C>T
|
rs771031464
|
0.00003
|
|
NM_000363.5(TNNI3):c.516C>T (p.His172=)
|
rs764527627
|
0.00003
|
|
NM_000363.5(TNNI3):c.93G>C (p.Thr31=)
|
rs765719980
|
0.00003
|
|
NM_000432.4(MYL2):c.375G>A (p.Thr125=)
|
rs190020833
|
0.00003
|
|
NM_000432.4(MYL2):c.48C>T (p.Asn16=)
|
rs552004172
|
0.00003
|
|
NM_000432.4(MYL2):c.49G>A (p.Val17Met)
|
rs730880943
|
0.00003
|
|
NM_001005242.3(PKP2):c.1035-11del
|
rs1393167652
|
0.00003
|
|
NM_001005242.3(PKP2):c.1080C>T (p.Leu360=)
|
rs397516984
|
0.00003
|
|
NM_001005242.3(PKP2):c.1379-2011G>A
|
rs140301552
|
0.00003
|
|
NM_001005242.3(PKP2):c.1379-2056C>T
|
rs749052785
|
0.00003
|
|
NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys)
|
rs1208347768
|
0.00003
|
|
NM_001005242.3(PKP2):c.1519G>A (p.Asp507Asn)
|
rs763427502
|
0.00003
|
|
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val)
|
rs397517002
|
0.00003
|
|
NM_001005242.3(PKP2):c.1679C>T (p.Thr560Met)
|
rs373360192
|
0.00003
|
|
NM_001005242.3(PKP2):c.1796A>G (p.Lys599Arg)
|
rs533659697
|
0.00003
|
|
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter)
|
rs751288871
|
0.00003
|
|
NM_001005242.3(PKP2):c.1945A>G (p.Ser649Gly)
|
rs375295635
|
0.00003
|
|
NM_001005242.3(PKP2):c.1968A>T (p.Glu656Asp)
|
rs879210282
|
0.00003
|
|
NM_001005242.3(PKP2):c.1998G>A (p.Thr666=)
|
rs371089832
|
0.00003
|
|
NM_001005242.3(PKP2):c.19C>T (p.Pro7Ser)
|
rs764645176
|
0.00003
|
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
|
NM_001005242.3(PKP2):c.223G>A (p.Gly75Arg)
|
rs765852160
|
0.00003
|
|
NM_001005242.3(PKP2):c.236G>A (p.Arg79Gln)
|
rs766802880
|
0.00003
|
|
NM_001005242.3(PKP2):c.2372A>G (p.Lys791Arg)
|
rs372729739
|
0.00003
|
|
NM_001005242.3(PKP2):c.2487C>T (p.Ala829=)
|
rs747191995
|
0.00003
|
|
NM_001005242.3(PKP2):c.259G>C (p.Val87Leu)
|
rs750028032
|
0.00003
|
|
NM_001005242.3(PKP2):c.293T>C (p.Val98Ala)
|
rs775434969
|
0.00003
|
|
NM_001005242.3(PKP2):c.360A>G (p.Glu120=)
|
rs764868621
|
0.00003
|
|
NM_001005242.3(PKP2):c.591C>T (p.Ser197=)
|
rs769438623
|
0.00003
|
|
NM_001005242.3(PKP2):c.611G>A (p.Arg204His)
|
rs755215178
|
0.00003
|
|
NM_001018005.2(TPM1):c.375-3C>T
|
rs202228866
|
0.00003
|
|
NM_001018005.2(TPM1):c.474C>T (p.Ala158=)
|
rs143922069
|
0.00003
|
|
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)
|
rs104894503
|
0.00003
|
|
NM_001018005.2(TPM1):c.549T>C (p.Ala183=)
|
rs199476313
|
0.00003
|
|
NM_001018005.2(TPM1):c.564-12C>T
|
rs113591254
|
0.00003
|
|
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser)
|
rs397516395
|
0.00003
|
|
NM_001035.3(RYR2):c.10495-10T>C
|
rs750850264
|
0.00003
|
|
NM_001035.3(RYR2):c.10709G>A (p.Arg3570Gln)
|
rs751520590
|
0.00003
|
|
NM_001035.3(RYR2):c.10876A>G (p.Lys3626Glu)
|
rs1343502629
|
0.00003
|
|
NM_001035.3(RYR2):c.1092A>C (p.Gln364His)
|
rs763183698
|
0.00003
|
|
NM_001035.3(RYR2):c.10936-13G>T
|
rs376086028
|
0.00003
|
|
NM_001035.3(RYR2):c.11208G>C (p.Ala3736=)
|
rs750384592
|
0.00003
|
|
NM_001035.3(RYR2):c.11245+6G>A
|
rs1366481570
|
0.00003
|
|
NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn)
|
rs768711283
|
0.00003
|
|
NM_001035.3(RYR2):c.1154G>C (p.Gly385Ala)
|
rs373148638
|
0.00003
|
|
NM_001035.3(RYR2):c.1165C>T (p.Arg389Cys)
|
rs376135032
|
0.00003
|
|
NM_001035.3(RYR2):c.1171-14T>G
|
rs751389436
|
0.00003
|
|
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly)
|
rs374306538
|
0.00003
|
|
NM_001035.3(RYR2):c.11730C>T (p.Ile3910=)
|
rs764373699
|
0.00003
|
|
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=)
|
rs754610647
|
0.00003
|
|
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)
|
rs763374929
|
0.00003
|
|
NM_001035.3(RYR2):c.12075T>C (p.Asp4025=)
|
rs570554092
|
0.00003
|
|
NM_001035.3(RYR2):c.1241G>A (p.Arg414His)
|
rs371121679
|
0.00003
|
|
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)
|
rs772125105
|
0.00003
|
|
NM_001035.3(RYR2):c.12658G>A (p.Glu4220Lys)
|
rs753433827
|
0.00003
|
|
NM_001035.3(RYR2):c.13044G>A (p.Glu4348=)
|
rs559197657
|
0.00003
|
|
NM_001035.3(RYR2):c.1304C>T (p.Ala435Val)
|
rs757313291
|
0.00003
|
|
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)
|
rs753733164
|
0.00003
|
|
NM_001035.3(RYR2):c.1324G>T (p.Ala442Ser)
|
rs747344666
|
0.00003
|
|
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)
|
rs548313130
|
0.00003
|
|
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr)
|
rs189345192
|
0.00003
|
|
NM_001035.3(RYR2):c.13672C>T (p.His4558Tyr)
|
rs773264033
|
0.00003
|
|
NM_001035.3(RYR2):c.14152-15G>A
|
rs371785571
|
0.00003
|
|
NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr)
|
rs397516514
|
0.00003
|
|
NM_001035.3(RYR2):c.14493C>T (p.Ile4831=)
|
rs375456172
|
0.00003
|
|
NM_001035.3(RYR2):c.14694C>T (p.Phe4898=)
|
rs542501813
|
0.00003
|
|
NM_001035.3(RYR2):c.1477-8C>T
|
rs876657575
|
0.00003
|
|
NM_001035.3(RYR2):c.1665C>T (p.Leu555=)
|
rs371262363
|
0.00003
|
|
NM_001035.3(RYR2):c.1674G>A (p.Leu558=)
|
rs1324895345
|
0.00003
|
|
NM_001035.3(RYR2):c.1773A>G (p.Glu591=)
|
rs1187362255
|
0.00003
|
|
NM_001035.3(RYR2):c.1962-13C>T
|
rs549804448
|
0.00003
|
|
NM_001035.3(RYR2):c.2203+4C>T
|
rs371445192
|
0.00003
|
|
NM_001035.3(RYR2):c.2544C>T (p.Arg848=)
|
rs748097250
|
0.00003
|
|
NM_001035.3(RYR2):c.2617G>A (p.Val873Met)
|
rs369248015
|
0.00003
|
|
NM_001035.3(RYR2):c.274-3C>T
|
rs776347774
|
0.00003
|
|
NM_001035.3(RYR2):c.2951G>A (p.Ser984Asn)
|
rs730880188
|
0.00003
|
|
NM_001035.3(RYR2):c.3243C>T (p.Thr1081=)
|
rs771680871
|
0.00003
|
|
NM_001035.3(RYR2):c.3270C>G (p.Ala1090=)
|
rs1344074824
|
0.00003
|
|
NM_001035.3(RYR2):c.3361G>C (p.Gly1121Arg)
|
rs199682282
|
0.00003
|
|
NM_001035.3(RYR2):c.336A>G (p.Thr112=)
|
rs536426427
|
0.00003
|
|
NM_001035.3(RYR2):c.348A>G (p.Gly116=)
|
rs775744289
|
0.00003
|
|
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)
|
rs1019112544
|
0.00003
|
|
NM_001035.3(RYR2):c.3808-10C>T
|
rs779454549
|
0.00003
|
|
NM_001035.3(RYR2):c.3822C>T (p.Asp1274=)
|
rs761365777
|
0.00003
|
|
NM_001035.3(RYR2):c.3827C>T (p.Thr1276Ile)
|
rs762899950
|
0.00003
|
|
NM_001035.3(RYR2):c.4410A>G (p.Gly1470=)
|
rs727503399
|
0.00003
|
|
NM_001035.3(RYR2):c.464-13C>T
|
rs372610981
|
0.00003
|
|
NM_001035.3(RYR2):c.4684-6C>T
|
rs755712032
|
0.00003
|
|
NM_001035.3(RYR2):c.4802A>G (p.Asn1601Ser)
|
rs1474971861
|
0.00003
|
|
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=)
|
rs397516537
|
0.00003
|
|
NM_001035.3(RYR2):c.5011C>T (p.Arg1671Trp)
|
rs747404408
|
0.00003
|
|
NM_001035.3(RYR2):c.5021A>G (p.His1674Arg)
|
rs771414167
|
0.00003
|
|
NM_001035.3(RYR2):c.5066T>C (p.Ile1689Thr)
|
rs763907583
|
0.00003
|
|
NM_001035.3(RYR2):c.5169C>T (p.Asn1723=)
|
rs772441741
|
0.00003
|
|
NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp)
|
rs776550479
|
0.00003
|
|
NM_001035.3(RYR2):c.5570C>T (p.Pro1857Leu)
|
rs568198475
|
0.00003
|
|
NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp)
|
rs760010432
|
0.00003
|
|
NM_001035.3(RYR2):c.5762G>A (p.Arg1921Gln)
|
rs370568809
|
0.00003
|
|
NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr)
|
rs761505396
|
0.00003
|
|
NM_001035.3(RYR2):c.6232C>T (p.Pro2078Ser)
|
rs780993255
|
0.00003
|
|
NM_001035.3(RYR2):c.6441-15C>T
|
rs747176905
|
0.00003
|
|
NM_001035.3(RYR2):c.6772C>T (p.Arg2258Cys)
|
rs757350594
|
0.00003
|
|
NM_001035.3(RYR2):c.6936T>C (p.Ser2312=)
|
rs1282237936
|
0.00003
|
|
NM_001035.3(RYR2):c.708G>A (p.Leu236=)
|
rs773746218
|
0.00003
|
|
NM_001035.3(RYR2):c.7098C>T (p.Ser2366=)
|
rs375631485
|
0.00003
|
|
NM_001035.3(RYR2):c.7342+4A>T
|
rs771358777
|
0.00003
|
|
NM_001035.3(RYR2):c.7354G>A (p.Val2452Met)
|
rs377136047
|
0.00003
|
|
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)
|
rs374191985
|
0.00003
|
|
NM_001035.3(RYR2):c.8041A>T (p.Met2681Leu)
|
rs768547151
|
0.00003
|
|
NM_001035.3(RYR2):c.8209-12C>A
|
rs767601681
|
0.00003
|
|
NM_001035.3(RYR2):c.8209-4T>C
|
rs371966353
|
0.00003
|
|
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His)
|
rs773748242
|
0.00003
|
|
NM_001035.3(RYR2):c.837G>A (p.Thr279=)
|
rs769682840
|
0.00003
|
|
NM_001035.3(RYR2):c.849-13C>T
|
rs757524222
|
0.00003
|
|
NM_001035.3(RYR2):c.8515-7A>G
|
rs766622060
|
0.00003
|
|
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)
|
rs755520825
|
0.00003
|
|
NM_001035.3(RYR2):c.8936G>A (p.Arg2979His)
|
rs753179691
|
0.00003
|
|
NM_001035.3(RYR2):c.9018-11T>C
|
rs781149223
|
0.00003
|
|
NM_001035.3(RYR2):c.9189C>T (p.Asn3063=)
|
rs531651646
|
0.00003
|
|
NM_001035.3(RYR2):c.926T>C (p.Met309Thr)
|
rs542853582
|
0.00003
|
|
NM_001035.3(RYR2):c.9441C>T (p.Tyr3147=)
|
rs760338814
|
0.00003
|
|
NM_001035.3(RYR2):c.953A>G (p.Asp318Gly)
|
rs1268335647
|
0.00003
|
|
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)
|
rs760379293
|
0.00003
|
|
NM_001035.3(RYR2):c.9996G>A (p.Thr3332=)
|
rs760131228
|
0.00003
|
|
NM_001040113.2(MYH11):c.5832G>A (p.Ser1944=)
|
rs373899395
|
0.00003
|
|
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter)
|
rs765669597
|
0.00003
|
|
NM_001276345.2(TNNT2):c.*3C>A
|
rs529731863
|
0.00003
|
|
NM_001276345.2(TNNT2):c.103G>A (p.Glu35Lys)
|
rs867180029
|
0.00003
|
|
NM_001276345.2(TNNT2):c.411+6T>A
|
rs761043932
|
0.00003
|
|
NM_001276345.2(TNNT2):c.435C>T (p.Ala145=)
|
rs375675827
|
0.00003
|
|
NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys)
|
rs371142225
|
0.00003
|
|
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)
|
rs483352832
|
0.00003
|
|
NM_001276345.2(TNNT2):c.552G>A (p.Lys184=)
|
rs566113559
|
0.00003
|
|
NM_001276345.2(TNNT2):c.601-6G>A
|
rs760197357
|
0.00003
|
|
NM_001276345.2(TNNT2):c.609+3G>A
|
rs997358710
|
0.00003
|
|
NM_001276345.2(TNNT2):c.617G>A (p.Arg206Gln)
|
rs371047521
|
0.00003
|
|
NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val)
|
rs886045828
|
0.00003
|
|
NM_001276345.2(TNNT2):c.883G>A (p.Gly295Arg)
|
rs147940106
|
0.00003
|
|
NM_001613.4(ACTA2):c.1017C>T (p.Tyr339=)
|
rs1418187980
|
0.00003
|
|
NM_001613.4(ACTA2):c.1087G>C (p.Glu363Gln)
|
rs778257647
|
0.00003
|
|
NM_001613.4(ACTA2):c.1092C>T (p.Tyr364=)
|
rs754695149
|
0.00003
|
|
NM_001613.4(ACTA2):c.165C>T (p.Tyr55=)
|
rs747205071
|
0.00003
|
|
NM_001613.4(ACTA2):c.390T>C (p.Asn130=)
|
rs141933412
|
0.00003
|
|
NM_001613.4(ACTA2):c.403T>C (p.Tyr135His)
|
rs751300489
|
0.00003
|
|
NM_001613.4(ACTA2):c.477T>C (p.Asp159=)
|
rs761805696
|
0.00003
|
|
NM_001613.4(ACTA2):c.538C>T (p.Leu180=)
|
rs375204799
|
0.00003
|
|
NM_001613.4(ACTA2):c.959C>T (p.Thr320Met)
|
rs757656209
|
0.00003
|
|
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn)
|
rs777832794
|
0.00003
|
|
NM_001943.5(DSG2):c.1119T>C (p.Ile373=)
|
rs770547012
|
0.00003
|
|
NM_001943.5(DSG2):c.1194C>T (p.Ser398=)
|
rs770669833
|
0.00003
|
|
NM_001943.5(DSG2):c.122A>T (p.His41Leu)
|
rs777373864
|
0.00003
|
|
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn)
|
rs370509593
|
0.00003
|
|
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys)
|
rs576404380
|
0.00003
|
|
NM_001943.5(DSG2):c.1418C>T (p.Ser473Leu)
|
rs774607590
|
0.00003
|
|
NM_001943.5(DSG2):c.1524C>T (p.His508=)
|
rs560004953
|
0.00003
|
|
NM_001943.5(DSG2):c.1536T>C (p.Tyr512=)
|
rs952187023
|
0.00003
|
|
NM_001943.5(DSG2):c.1642C>T (p.Arg548Cys)
|
rs550400909
|
0.00003
|
|
NM_001943.5(DSG2):c.1792G>A (p.Gly598Ser)
|
rs773666300
|
0.00003
|
|
NM_001943.5(DSG2):c.2079A>C (p.Glu693Asp)
|
rs375595872
|
0.00003
|
|
NM_001943.5(DSG2):c.216+3A>C
|
rs774208829
|
0.00003
|
|
NM_001943.5(DSG2):c.2162A>G (p.His721Arg)
|
rs756912703
|
0.00003
|
|
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)
|
rs727504783
|
0.00003
|
|
NM_001943.5(DSG2):c.2304C>T (p.Asn768=)
|
rs368514815
|
0.00003
|
|
NM_001943.5(DSG2):c.2340G>T (p.Ala780=)
|
rs375539435
|
0.00003
|
|
NM_001943.5(DSG2):c.2421G>T (p.Leu807=)
|
rs374775982
|
0.00003
|
|
NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly)
|
rs777642924
|
0.00003
|
|
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp)
|
rs756338201
|
0.00003
|
|
NM_001943.5(DSG2):c.2638A>C (p.Asn880His)
|
rs745617885
|
0.00003
|
|
NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg)
|
rs374807974
|
0.00003
|
|
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala)
|
rs727502991
|
0.00003
|
|
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter)
|
rs539821357
|
0.00003
|
|
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)
|
rs200830807
|
0.00003
|
|
NM_001943.5(DSG2):c.3210G>A (p.Thr1070=)
|
rs771104963
|
0.00003
|
|
NM_001943.5(DSG2):c.3228G>A (p.Val1076=)
|
rs373966845
|
0.00003
|
|
NM_001943.5(DSG2):c.55A>G (p.Asn19Asp)
|
rs185266383
|
0.00003
|
|
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)
|
rs727502985
|
0.00003
|
|
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr)
|
rs727502986
|
0.00003
|
|
NM_001943.5(DSG2):c.84C>G (p.Val28=)
|
rs397516711
|
0.00003
|
|
NM_002474.3(MYH11):c.1000G>T (p.Ala334Ser)
|
rs1425974785
|
0.00003
|
|
NM_002474.3(MYH11):c.1018G>A (p.Glu340Lys)
|
rs145768331
|
0.00003
|
|
NM_002474.3(MYH11):c.101G>C (p.Arg34Thr)
|
rs199654191
|
0.00003
|
|
NM_002474.3(MYH11):c.1034-11C>T
|
rs1334727126
|
0.00003
|
|
NM_002474.3(MYH11):c.1402-14C>T
|
rs375973110
|
0.00003
|
|
NM_002474.3(MYH11):c.1440C>T (p.Asn480=)
|
rs554373758
|
0.00003
|
|
NM_002474.3(MYH11):c.1503C>T (p.Arg501=)
|
rs776843079
|
0.00003
|
|
NM_002474.3(MYH11):c.1806C>T (p.Asn602=)
|
rs755086523
|
0.00003
|
|
NM_002474.3(MYH11):c.1904C>T (p.Thr635Met)
|
rs745878375
|
0.00003
|
|
NM_002474.3(MYH11):c.1905G>A (p.Thr635=)
|
rs779037921
|
0.00003
|
|
NM_002474.3(MYH11):c.1923C>T (p.Ser641=)
|
rs530466304
|
0.00003
|
|
NM_002474.3(MYH11):c.2000C>T (p.Thr667Met)
|
rs750066715
|
0.00003
|
|
NM_002474.3(MYH11):c.2158G>A (p.Val720Ile)
|
rs756408490
|
0.00003
|
|
NM_002474.3(MYH11):c.2199G>A (p.Ala733=)
|
rs375397717
|
0.00003
|
|
NM_002474.3(MYH11):c.2412-15T>C
|
rs373833673
|
0.00003
|
|
NM_002474.3(MYH11):c.2442C>T (p.Thr814=)
|
rs759602174
|
0.00003
|
|
NM_002474.3(MYH11):c.2469C>T (p.Cys823=)
|
rs749478973
|
0.00003
|
|
NM_002474.3(MYH11):c.2659G>A (p.Glu887Lys)
|
rs201387564
|
0.00003
|
|
NM_002474.3(MYH11):c.2807A>T (p.Asp936Val)
|
rs1341541765
|
0.00003
|
|
NM_002474.3(MYH11):c.2828C>A (p.Ala943Asp)
|
rs763514919
|
0.00003
|
|
NM_002474.3(MYH11):c.2960T>C (p.Ile987Thr)
|
rs770004584
|
0.00003
|
|
NM_002474.3(MYH11):c.3035C>T (p.Thr1012Met)
|
rs373881911
|
0.00003
|
|
NM_002474.3(MYH11):c.3104T>C (p.Met1035Thr)
|
rs557463209
|
0.00003
|
|
NM_002474.3(MYH11):c.342A>T (p.Ile114=)
|
rs746783926
|
0.00003
|
|
NM_002474.3(MYH11):c.3433G>A (p.Gly1145Ser)
|
rs761657319
|
0.00003
|
|
NM_002474.3(MYH11):c.3750G>A (p.Val1250=)
|
rs1340745721
|
0.00003
|
|
NM_002474.3(MYH11):c.3808G>A (p.Asp1270Asn)
|
rs770319821
|
0.00003
|
|
NM_002474.3(MYH11):c.3859-14C>A
|
rs763714252
|
0.00003
|
|
NM_002474.3(MYH11):c.4117-14C>T
|
rs374648974
|
0.00003
|
|
NM_002474.3(MYH11):c.4303G>A (p.Asp1435Asn)
|
rs794728668
|
0.00003
|
|
NM_002474.3(MYH11):c.4372G>A (p.Ala1458Thr)
|
rs775154820
|
0.00003
|
|
NM_002474.3(MYH11):c.444C>T (p.His148=)
|
rs569925780
|
0.00003
|
|
NM_002474.3(MYH11):c.4536A>G (p.Glu1512=)
|
rs771367057
|
0.00003
|
|
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn)
|
rs369751362
|
0.00003
|
|
NM_002474.3(MYH11):c.4791+5G>A
|
rs376779423
|
0.00003
|
|
NM_002474.3(MYH11):c.4835G>A (p.Arg1612His)
|
rs781252922
|
0.00003
|
|
NM_002474.3(MYH11):c.4899C>A (p.Ala1633=)
|
rs760584464
|
0.00003
|
|
NM_002474.3(MYH11):c.503-12T>A
|
rs757533996
|
0.00003
|
|
NM_002474.3(MYH11):c.5064C>T (p.Asp1688=)
|
rs751375975
|
0.00003
|
|
NM_002474.3(MYH11):c.5092G>A (p.Ala1698Thr)
|
rs187172581
|
0.00003
|
|
NM_002474.3(MYH11):c.5187C>T (p.Asp1729=)
|
rs145101141
|
0.00003
|
|
NM_002474.3(MYH11):c.5392C>T (p.Arg1798Trp)
|
rs371581038
|
0.00003
|
|
NM_002474.3(MYH11):c.53A>G (p.Lys18Arg)
|
rs756777282
|
0.00003
|
|
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=)
|
rs145857508
|
0.00003
|
|
NM_002474.3(MYH11):c.546C>T (p.Ala182=)
|
rs113577450
|
0.00003
|
|
NM_002474.3(MYH11):c.5504+6C>A
|
rs371348553
|
0.00003
|
|
NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys)
|
rs148743922
|
0.00003
|
|
NM_002474.3(MYH11):c.5614-6C>T
|
rs200522079
|
0.00003
|
|
NM_002474.3(MYH11):c.5652G>A (p.Arg1884=)
|
rs150860193
|
0.00003
|
|
NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser)
|
rs79129097
|
0.00003
|
|
NM_002474.3(MYH11):c.5733G>A (p.Thr1911=)
|
rs372173243
|
0.00003
|
|
NM_002474.3(MYH11):c.758C>T (p.Thr253Met)
|
rs745787304
|
0.00003
|
|
NM_002474.3(MYH11):c.939C>G (p.Gly313=)
|
rs773165722
|
0.00003
|
|
NM_002474.3(MYH11):c.94G>A (p.Ala32Thr)
|
rs765295579
|
0.00003
|
|
NM_003242.6(TGFBR2):c.1027A>G (p.Ser343Gly)
|
rs758614833
|
0.00003
|
|
NM_003242.6(TGFBR2):c.1473G>A (p.Val491=)
|
rs752287982
|
0.00003
|
|
NM_003242.6(TGFBR2):c.1680C>T (p.Asp560=)
|
rs376815143
|
0.00003
|
|
NM_003242.6(TGFBR2):c.276C>T (p.Asp92=)
|
rs774840447
|
0.00003
|
|
NM_003242.6(TGFBR2):c.374A>G (p.Glu125Gly)
|
rs762282124
|
0.00003
|
|
NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val)
|
rs757051948
|
0.00003
|
|
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)
|
rs780542125
|
0.00003
|
|
NM_003242.6(TGFBR2):c.639C>T (p.Ser213=)
|
rs200332401
|
0.00003
|
|
NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys)
|
rs767407566
|
0.00003
|
|
NM_003242.6(TGFBR2):c.671G>A (p.Arg224His)
|
rs112465572
|
0.00003
|
|
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)
|
rs201560560
|
0.00003
|
|
NM_003242.6(TGFBR2):c.708C>T (p.Asn236=)
|
rs141554621
|
0.00003
|
|
NM_004415.4(DSP):c.1045-8T>C
|
rs201633815
|
0.00003
|
|
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr)
|
rs141163578
|
0.00003
|
|
NM_004415.4(DSP):c.1267-14A>T
|
rs374439921
|
0.00003
|
|
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)
|
rs755492444
|
0.00003
|
|
NM_004415.4(DSP):c.1487C>T (p.Thr496Met)
|
rs374283517
|
0.00003
|
|
NM_004415.4(DSP):c.1501G>A (p.Val501Ile)
|
rs368778031
|
0.00003
|
|
NM_004415.4(DSP):c.1557C>T (p.Ala519=)
|
rs769629611
|
0.00003
|
|
NM_004415.4(DSP):c.1630A>C (p.Met544Leu)
|
rs201960323
|
0.00003
|
|
NM_004415.4(DSP):c.1695C>T (p.Ile565=)
|
rs752714010
|
0.00003
|
|
NM_004415.4(DSP):c.1743C>T (p.Ala581=)
|
rs139095230
|
0.00003
|
|
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)
|
rs764951792
|
0.00003
|
|
NM_004415.4(DSP):c.201C>T (p.Asn67=)
|
rs774432635
|
0.00003
|
|
NM_004415.4(DSP):c.2047G>A (p.Glu683Lys)
|
rs775181391
|
0.00003
|
|
NM_004415.4(DSP):c.2052C>A (p.Gly684=)
|
rs760191477
|
0.00003
|
|
NM_004415.4(DSP):c.21C>T (p.Ser7=)
|
rs750532252
|
0.00003
|
|
NM_004415.4(DSP):c.2310A>C (p.Val770=)
|
rs762909119
|
0.00003
|
|
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)
|
rs557966264
|
0.00003
|
|
NM_004415.4(DSP):c.2540C>T (p.Pro847Leu)
|
rs727504657
|
0.00003
|
|
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys)
|
rs778636665
|
0.00003
|
|
NM_004415.4(DSP):c.2720G>A (p.Arg907His)
|
rs774665110
|
0.00003
|
|
NM_004415.4(DSP):c.2722C>T (p.Arg908Cys)
|
rs376932045
|
0.00003
|
|
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys)
|
rs563387839
|
0.00003
|
|
NM_004415.4(DSP):c.3231G>A (p.Ala1077=)
|
rs368214030
|
0.00003
|
|
NM_004415.4(DSP):c.3275C>T (p.Ser1092Leu)
|
rs755481878
|
0.00003
|
|
NM_004415.4(DSP):c.344A>G (p.Asn115Ser)
|
rs28763958
|
0.00003
|
|
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)
|
rs147909031
|
0.00003
|
|
NM_004415.4(DSP):c.363C>T (p.Leu121=)
|
rs748204541
|
0.00003
|
|
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)
|
rs535202724
|
0.00003
|
|
NM_004415.4(DSP):c.3651G>A (p.Thr1217=)
|
rs1057522191
|
0.00003
|
|
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile)
|
rs778448699
|
0.00003
|
|
NM_004415.4(DSP):c.4019G>A (p.Arg1340His)
|
rs765247380
|
0.00003
|
|
NM_004415.4(DSP):c.4032T>C (p.Tyr1344=)
|
rs1422876320
|
0.00003
|
|
NM_004415.4(DSP):c.4041A>G (p.Glu1347=)
|
rs200671552
|
0.00003
|
|
NM_004415.4(DSP):c.4077C>T (p.Ile1359=)
|
rs747249306
|
0.00003
|
|
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg)
|
rs747326519
|
0.00003
|
|
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln)
|
rs370063434
|
0.00003
|
|
NM_004415.4(DSP):c.4377A>G (p.Thr1459=)
|
rs771910118
|
0.00003
|
|
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile)
|
rs948230523
|
0.00003
|
|
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu)
|
rs794728122
|
0.00003
|
|
NM_004415.4(DSP):c.4540C>T (p.Leu1514=)
|
rs754783192
|
0.00003
|
|
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val)
|
rs145796901
|
0.00003
|
|
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)
|
rs186842903
|
0.00003
|
|
NM_004415.4(DSP):c.484C>T (p.Arg162Cys)
|
rs760711308
|
0.00003
|
|
NM_004415.4(DSP):c.485G>T (p.Arg162Leu)
|
rs397516944
|
0.00003
|
|
NM_004415.4(DSP):c.5019A>T (p.Glu1673Asp)
|
rs773113214
|
0.00003
|
|
NM_004415.4(DSP):c.5154G>A (p.Leu1718=)
|
rs376620183
|
0.00003
|
|
NM_004415.4(DSP):c.5223G>A (p.Ala1741=)
|
rs201984474
|
0.00003
|
|
NM_004415.4(DSP):c.5414G>A (p.Cys1805Tyr)
|
rs768161038
|
0.00003
|
|
NM_004415.4(DSP):c.55C>A (p.Arg19Ser)
|
rs777340009
|
0.00003
|
|
NM_004415.4(DSP):c.578G>T (p.Gly193Val)
|
rs750350474
|
0.00003
|
|
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly)
|
rs140663822
|
0.00003
|
|
NM_004415.4(DSP):c.5899G>A (p.Val1967Met)
|
rs397516949
|
0.00003
|
|
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly)
|
rs760673242
|
0.00003
|
|
NM_004415.4(DSP):c.6248G>A (p.Arg2083His)
|
rs574637009
|
0.00003
|
|
NM_004415.4(DSP):c.6310del (p.Thr2104fs)
|
rs730880092
|
0.00003
|
|
NM_004415.4(DSP):c.6368G>A (p.Arg2123His)
|
rs142272846
|
0.00003
|
|
NM_004415.4(DSP):c.6416A>G (p.Asn2139Ser)
|
rs765687440
|
0.00003
|
|
NM_004415.4(DSP):c.6496C>A (p.Arg2166=)
|
rs141026028
|
0.00003
|
|
NM_004415.4(DSP):c.665G>A (p.Arg222Gln)
|
rs377749481
|
0.00003
|
|
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala)
|
rs886061748
|
0.00003
|
|
NM_004415.4(DSP):c.7014G>C (p.Gly2338=)
|
rs1054965369
|
0.00003
|
|
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val)
|
rs768837509
|
0.00003
|
|
NM_004415.4(DSP):c.7075A>G (p.Ile2359Val)
|
rs774087560
|
0.00003
|
|
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg)
|
rs376923069
|
0.00003
|
|
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser)
|
rs397516959
|
0.00003
|
|
NM_004415.4(DSP):c.789T>C (p.Phe263=)
|
rs1354363918
|
0.00003
|
|
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp)
|
rs771553674
|
0.00003
|
|
NM_004415.4(DSP):c.8030A>G (p.Gln2677Arg)
|
rs749806703
|
0.00003
|
|
NM_004415.4(DSP):c.837G>A (p.Thr279=)
|
rs368051840
|
0.00003
|
|
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly)
|
rs760215987
|
0.00003
|
|
NM_004415.4(DSP):c.8433G>A (p.Lys2811=)
|
rs753011095
|
0.00003
|
|
NM_004415.4(DSP):c.860A>G (p.Asn287Ser)
|
rs138872423
|
0.00003
|
|
NM_004612.4(TGFBR1):c.1256-13T>A
|
rs200979110
|
0.00003
|
|
NM_004612.4(TGFBR1):c.930G>A (p.Ala310=)
|
rs139090459
|
0.00003
|
|
NM_004612.4(TGFBR1):c.933C>T (p.Ser311=)
|
rs200912890
|
0.00003
|
|
NM_005159.5(ACTC1):c.270C>T (p.His90=)
|
rs138812333
|
0.00003
|
|
NM_005159.5(ACTC1):c.300C>T (p.Pro100=)
|
rs141322728
|
0.00003
|
|
NM_005159.5(ACTC1):c.399C>T (p.Ala133=)
|
rs764630691
|
0.00003
|
|
NM_005159.5(ACTC1):c.498C>T (p.Pro166=)
|
rs370082904
|
0.00003
|
|
NM_005159.5(ACTC1):c.51G>A (p.Gly17=)
|
rs993704001
|
0.00003
|
|
NM_005159.5(ACTC1):c.616+6T>C
|
rs574862389
|
0.00003
|
|
NM_005572.4(LMNA):c.1712G>A (p.Arg571His)
|
rs200917748
|
0.00003
|
|
NM_005902.4(SMAD3):c.1070A>G (p.Asn357Ser)
|
rs140880290
|
0.00003
|
|
NM_005902.4(SMAD3):c.1102C>A (p.Arg368=)
|
rs757106110
|
0.00003
|
|
NM_005902.4(SMAD3):c.1120A>G (p.Met374Val)
|
rs370394986
|
0.00003
|
|
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val)
|
rs1317532064
|
0.00003
|
|
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys)
|
rs1206533102
|
0.00003
|
|
NM_005902.4(SMAD3):c.207-4G>A
|
rs1319147414
|
0.00003
|
|
NM_005902.4(SMAD3):c.333C>T (p.Phe111=)
|
rs762612490
|
0.00003
|
|
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala)
|
rs371876622
|
0.00003
|
|
NM_005902.4(SMAD3):c.533-13_533-10del
|
rs752716057
|
0.00003
|
|
NM_005902.4(SMAD3):c.632C>T (p.Pro211Leu)
|
rs772510704
|
0.00003
|
|
NM_005902.4(SMAD3):c.981C>G (p.His327Gln)
|
rs780274581
|
0.00003
|
|
NM_016203.4(PRKAG2):c.*2C>T
|
rs199559205
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=)
|
rs767902787
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1234-6G>A
|
rs780341115
|
0.00003
|
|
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=)
|
rs767950372
|
0.00003
|
|
NM_016203.4(PRKAG2):c.342G>A (p.Pro114=)
|
rs147365679
|
0.00003
|
|
NM_016203.4(PRKAG2):c.361A>G (p.Met121Val)
|
rs760511236
|
0.00003
|
|
NM_016203.4(PRKAG2):c.554A>T (p.Glu185Val)
|
rs397517274
|
0.00003
|
|
NM_016203.4(PRKAG2):c.591C>T (p.Pro197=)
|
rs587781126
|
0.00003
|
|
NM_016203.4(PRKAG2):c.66C>T (p.Gly22=)
|
rs730880971
|
0.00003
|
|
NM_024334.3(TMEM43):c.-2C>T
|
rs754747623
|
0.00003
|
|
NM_024334.3(TMEM43):c.1112A>G (p.Tyr371Cys)
|
rs752269639
|
0.00003
|
|
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)
|
rs773224617
|
0.00003
|
|
NM_024334.3(TMEM43):c.180G>A (p.Thr60=)
|
rs765703685
|
0.00003
|
|
NM_024334.3(TMEM43):c.189A>G (p.Ser63=)
|
rs934304715
|
0.00003
|
|
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)
|
rs140347235
|
0.00003
|
|
NM_024334.3(TMEM43):c.584-13C>G
|
rs748146417
|
0.00003
|
|
NM_024334.3(TMEM43):c.591C>T (p.Ile197=)
|
rs145024252
|
0.00003
|
|
NM_024334.3(TMEM43):c.644A>C (p.His215Pro)
|
rs730880225
|
0.00003
|
|
NM_024334.3(TMEM43):c.661C>T (p.Arg221Cys)
|
rs182464375
|
0.00003
|
|
NM_024334.3(TMEM43):c.684C>T (p.Ser228=)
|
rs371019231
|
0.00003
|
|
NM_024334.3(TMEM43):c.692C>T (p.Pro231Leu)
|
rs533275736
|
0.00003
|
|
NM_024334.3(TMEM43):c.748G>A (p.Gly250Ser)
|
rs371797765
|
0.00003
|
|
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)
|
rs139842014
|
0.00003
|
|
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln)
|
rs757651177
|
0.00003
|
|
NM_024334.3(TMEM43):c.980C>G (p.Thr327Arg)
|
rs368111230
|
0.00003
|
|
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)
|
rs368299411
|
0.00003
|
|
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn)
|
rs757065157
|
0.00003
|
|
NM_024422.6(DSC2):c.115G>A (p.Val39Ile)
|
rs1447651355
|
0.00003
|
|
NM_024422.6(DSC2):c.1264-4G>A
|
rs377439942
|
0.00003
|
|
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr)
|
rs373324195
|
0.00003
|
|
NM_024422.6(DSC2):c.1663+4A>G
|
rs369849387
|
0.00003
|
|
NM_024422.6(DSC2):c.1814G>A (p.Gly605Asp)
|
rs1342808624
|
0.00003
|
|
NM_024422.6(DSC2):c.1881A>G (p.Ala627=)
|
rs752023626
|
0.00003
|
|
NM_024422.6(DSC2):c.2020G>A (p.Glu674Lys)
|
rs1483383737
|
0.00003
|
|
NM_024422.6(DSC2):c.2059G>A (p.Gly687Ser)
|
rs199616533
|
0.00003
|
|
NM_024422.6(DSC2):c.2126G>A (p.Cys709Tyr)
|
rs145831682
|
0.00003
|
|
NM_024422.6(DSC2):c.2595G>A (p.Val865=)
|
rs765879750
|
0.00003
|
|
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln)
|
rs535014010
|
0.00003
|
|
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn)
|
rs140856220
|
0.00003
|
|
NM_024422.6(DSC2):c.395G>A (p.Arg132His)
|
rs375410133
|
0.00003
|
|
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys)
|
rs769787593
|
0.00003
|
|
NM_024422.6(DSC2):c.601G>A (p.Val201Ile)
|
rs202058544
|
0.00003
|
|
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln)
|
rs200634448
|
0.00003
|
|
NM_024422.6(DSC2):c.708A>G (p.Glu236=)
|
rs377279601
|
0.00003
|
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
|
NM_024422.6(DSC2):c.870A>G (p.Pro290=)
|
rs142653119
|
0.00003
|
|
NM_024422.6(DSC2):c.943-9T>C
|
rs750684563
|
0.00003
|
|
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)
|
rs370656306
|
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.1317C>A (p.Arg439=)
|
rs374804871
|
0.00003
|
|
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)
|
rs368542816
|
0.00003
|
|
NM_170707.4(LMNA):c.1381-13A>G
|
rs750192865
|
0.00003
|
|
NM_170707.4(LMNA):c.1489-9C>T
|
rs374324602
|
0.00003
|
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
|
NM_170707.4(LMNA):c.1699-7T>C
|
rs771074100
|
0.00003
|
|
NM_170707.4(LMNA):c.1746C>T (p.Arg582=)
|
rs764561834
|
0.00003
|
|
NM_170707.4(LMNA):c.1908C>T (p.Ser636=)
|
rs80356814
|
0.00003
|
|
NM_170707.4(LMNA):c.78C>T (p.Ile26=)
|
rs373721390
|
0.00003
|
|
NM_170707.4(LMNA):c.885G>A (p.Ser295=)
|
rs776999079
|
0.00003
|
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
|
NM_170707.4(LMNA):c.937-8C>A
|
rs751707982
|
0.00003
|
|
NM_000090.4(COL3A1):c.1023C>T (p.Ala341=)
|
rs373392096
|
0.00002
|
|
NM_000090.4(COL3A1):c.1038C>T (p.Ser346=)
|
rs772423521
|
0.00002
|
|
NM_000090.4(COL3A1):c.1283G>A (p.Arg428Gln)
|
rs1021622002
|
0.00002
|
|
NM_000090.4(COL3A1):c.1464T>C (p.Pro488=)
|
rs377706172
|
0.00002
|
|
NM_000090.4(COL3A1):c.1473A>C (p.Arg491=)
|
rs759650260
|
0.00002
|
|
NM_000090.4(COL3A1):c.1525C>T (p.Arg509Cys)
|
rs1485092842
|
0.00002
|
|
NM_000090.4(COL3A1):c.1746T>C (p.Gly582=)
|
rs1373257114
|
0.00002
|
|
NM_000090.4(COL3A1):c.1860A>T (p.Pro620=)
|
rs141128796
|
0.00002
|
|
NM_000090.4(COL3A1):c.186C>T (p.Cys62=)
|
rs764749176
|
0.00002
|
|
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu)
|
rs1466862530
|
0.00002
|
|
NM_000090.4(COL3A1):c.1895C>T (p.Thr632Ile)
|
rs769039976
|
0.00002
|
|
NM_000090.4(COL3A1):c.2109C>T (p.Pro703=)
|
rs746947080
|
0.00002
|
|
NM_000090.4(COL3A1):c.2187A>G (p.Gly729=)
|
rs772997837
|
0.00002
|
|
NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser)
|
rs771671892
|
0.00002
|
|
NM_000090.4(COL3A1):c.2394T>C (p.Gly798=)
|
rs886038982
|
0.00002
|
|
NM_000090.4(COL3A1):c.2409T>C (p.Thr803=)
|
rs746293288
|
0.00002
|
|
NM_000090.4(COL3A1):c.2608-10C>T
|
rs1217009146
|
0.00002
|
|
NM_000090.4(COL3A1):c.2958C>T (p.Asn986=)
|
rs41264441
|
0.00002
|
|
NM_000090.4(COL3A1):c.3001C>G (p.Pro1001Ala)
|
rs777180110
|
0.00002
|
|
NM_000090.4(COL3A1):c.300T>C (p.Asn100=)
|
rs776373729
|
0.00002
|
|
NM_000090.4(COL3A1):c.3057T>C (p.Asp1019=)
|
rs151192026
|
0.00002
|
|
NM_000090.4(COL3A1):c.3069C>A (p.Gly1023=)
|
rs778417073
|
0.00002
|
|
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr)
|
rs775562650
|
0.00002
|
|
NM_000090.4(COL3A1):c.3411C>T (p.Gly1137=)
|
rs776330422
|
0.00002
|
|
NM_000090.4(COL3A1):c.3461G>C (p.Ser1154Thr)
|
rs147054108
|
0.00002
|
|
NM_000090.4(COL3A1):c.3484C>T (p.Pro1162Ser)
|
rs762147747
|
0.00002
|
|
NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln)
|
rs369494336
|
0.00002
|
|
NM_000090.4(COL3A1):c.3653C>T (p.Pro1218Leu)
|
rs763901831
|
0.00002
|
|
NM_000090.4(COL3A1):c.3764G>A (p.Arg1255His)
|
rs368119434
|
0.00002
|
|
NM_000090.4(COL3A1):c.3776C>T (p.Ala1259Val)
|
rs148387626
|
0.00002
|
|
NM_000090.4(COL3A1):c.3816C>G (p.Leu1272=)
|
rs754340753
|
0.00002
|
|
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=)
|
rs766750333
|
0.00002
|
|
NM_000090.4(COL3A1):c.4038T>C (p.Pro1346=)
|
rs113753099
|
0.00002
|
|
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln)
|
rs745656610
|
0.00002
|
|
NM_000090.4(COL3A1):c.4176G>A (p.Leu1392=)
|
rs758221289
|
0.00002
|
|
NM_000090.4(COL3A1):c.432C>T (p.Cys144=)
|
rs539430522
|
0.00002
|
|
NM_000090.4(COL3A1):c.4338C>T (p.Pro1446=)
|
rs376207711
|
0.00002
|
|
NM_000090.4(COL3A1):c.4341T>C (p.Tyr1447=)
|
rs773400185
|
0.00002
|
|
NM_000090.4(COL3A1):c.4346T>C (p.Ile1449Thr)
|
rs932369090
|
0.00002
|
|
NM_000090.4(COL3A1):c.4378G>A (p.Val1460Ile)
|
rs561556753
|
0.00002
|
|
NM_000090.4(COL3A1):c.599A>C (p.Gln200Pro)
|
rs780921226
|
0.00002
|
|
NM_000090.4(COL3A1):c.691-8C>G
|
rs749433733
|
0.00002
|
|
NM_000090.4(COL3A1):c.804C>T (p.Phe268=)
|
rs267599121
|
0.00002
|
|
NM_000090.4(COL3A1):c.874G>A (p.Glu292Lys)
|
rs138818489
|
0.00002
|
|
NM_000090.4(COL3A1):c.923G>A (p.Arg308Gln)
|
rs753589858
|
0.00002
|
|
NM_000090.4(COL3A1):c.969C>T (p.Asp323=)
|
rs779278835
|
0.00002
|
|
NM_000090.4(COL3A1):c.96T>C (p.Cys32=)
|
rs1296448513
|
0.00002
|
|
NM_000138.5(FBN1):c.-11G>T
|
rs1230427056
|
0.00002
|
|
NM_000138.5(FBN1):c.1370G>A (p.Arg457His)
|
rs141217134
|
0.00002
|
|
NM_000138.5(FBN1):c.1468+4C>T
|
rs765579667
|
0.00002
|
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
|
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)
|
rs749253325
|
0.00002
|
|
NM_000138.5(FBN1):c.1566A>G (p.Thr522=)
|
rs531264662
|
0.00002
|
|
NM_000138.5(FBN1):c.1961-7T>C
|
rs878853675
|
0.00002
|
|
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)
|
rs764827921
|
0.00002
|
|
NM_000138.5(FBN1):c.2154G>A (p.Thr718=)
|
rs377033515
|
0.00002
|
|
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly)
|
rs752891726
|
0.00002
|
|
NM_000138.5(FBN1):c.2390T>G (p.Ile797Ser)
|
rs983469033
|
0.00002
|
|
NM_000138.5(FBN1):c.2502T>A (p.Ser834=)
|
rs754372754
|
0.00002
|
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
|
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln)
|
rs794728328
|
0.00002
|
|
NM_000138.5(FBN1):c.2678-14G>A
|
rs369475895
|
0.00002
|
|
NM_000138.5(FBN1):c.2854+5A>G
|
rs762989672
|
0.00002
|
|
NM_000138.5(FBN1):c.2883G>T (p.Arg961Ser)
|
rs142964120
|
0.00002
|
|
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln)
|
rs748905831
|
0.00002
|
|
NM_000138.5(FBN1):c.2911A>G (p.Ile971Val)
|
rs766660415
|
0.00002
|
|
NM_000138.5(FBN1):c.2949C>T (p.Ser983=)
|
rs769307676
|
0.00002
|
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
|
NM_000138.5(FBN1):c.2980G>A (p.Glu994Lys)
|
rs780301913
|
0.00002
|
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
|
NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val)
|
rs2229324
|
0.00002
|
|
NM_000138.5(FBN1):c.3403A>G (p.Ser1135Gly)
|
rs749255004
|
0.00002
|
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
|
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser)
|
rs147584221
|
0.00002
|
|
NM_000138.5(FBN1):c.3453C>T (p.Ser1151=)
|
rs748759748
|
0.00002
|
|
NM_000138.5(FBN1):c.3456G>A (p.Ala1152=)
|
rs777442762
|
0.00002
|
|
NM_000138.5(FBN1):c.346+6T>G
|
rs371159129
|
0.00002
|
|
NM_000138.5(FBN1):c.3504T>C (p.Asn1168=)
|
rs768688637
|
0.00002
|
|
NM_000138.5(FBN1):c.3513C>T (p.Cys1171=)
|
rs775417975
|
0.00002
|
|
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)
|
rs371103773
|
0.00002
|
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
|
NM_000138.5(FBN1):c.4026A>G (p.Thr1342=)
|
rs752154066
|
0.00002
|
|
NM_000138.5(FBN1):c.4088-5A>G
|
rs534913868
|
0.00002
|
|
NM_000138.5(FBN1):c.4336+4A>C
|
rs764099050
|
0.00002
|
|
NM_000138.5(FBN1):c.4337-3A>C
|
rs770551687
|
0.00002
|
|
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)
|
rs368650399
|
0.00002
|
|
NM_000138.5(FBN1):c.4406G>A (p.Arg1469His)
|
rs397515808
|
0.00002
|
|
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=)
|
rs370494288
|
0.00002
|
|
NM_000138.5(FBN1):c.4665T>C (p.Val1555=)
|
rs191569116
|
0.00002
|
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
|
NM_000138.5(FBN1):c.4748-6C>T
|
rs376611471
|
0.00002
|
|
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)
|
rs140626
|
0.00002
|
|
NM_000138.5(FBN1):c.5123G>A (p.Gly1708Glu)
|
rs758600004
|
0.00002
|
|
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln)
|
rs780993677
|
0.00002
|
|
NM_000138.5(FBN1):c.5292C>T (p.Pro1764=)
|
rs111756438
|
0.00002
|
|
NM_000138.5(FBN1):c.5423-5C>T
|
rs368750818
|
0.00002
|
|
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser)
|
rs745680336
|
0.00002
|
|
NM_000138.5(FBN1):c.5467G>A (p.Glu1823Lys)
|
rs567397762
|
0.00002
|
|
NM_000138.5(FBN1):c.5899G>T (p.Asp1967Tyr)
|
rs776999627
|
0.00002
|
|
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg)
|
rs1413737899
|
0.00002
|
|
NM_000138.5(FBN1):c.6045T>C (p.Asp2015=)
|
rs779825421
|
0.00002
|
|
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)
|
rs756506237
|
0.00002
|
|
NM_000138.5(FBN1):c.6129G>C (p.Gly2043=)
|
rs766473100
|
0.00002
|
|
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)
|
rs974604498
|
0.00002
|
|
NM_000138.5(FBN1):c.62C>T (p.Thr21Met)
|
rs1489806847
|
0.00002
|
|
NM_000138.5(FBN1):c.6379+4A>G
|
rs780370404
|
0.00002
|
|
NM_000138.5(FBN1):c.6387C>T (p.Asp2129=)
|
rs147342485
|
0.00002
|
|
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys)
|
rs770257902
|
0.00002
|
|
NM_000138.5(FBN1):c.6616+5A>G
|
rs1381778697
|
0.00002
|
|
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp)
|
rs765205164
|
0.00002
|
|
NM_000138.5(FBN1):c.6872-12A>G
|
rs568325297
|
0.00002
|
|
NM_000138.5(FBN1):c.688C>T (p.Pro230Ser)
|
rs763347530
|
0.00002
|
|
NM_000138.5(FBN1):c.6998-7C>T
|
rs764823572
|
0.00002
|
|
NM_000138.5(FBN1):c.7000A>T (p.Asn2334Tyr)
|
rs1214531793
|
0.00002
|
|
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn)
|
rs775558051
|
0.00002
|
|
NM_000138.5(FBN1):c.7283T>C (p.Ile2428Thr)
|
rs565474071
|
0.00002
|
|
NM_000138.5(FBN1):c.7335G>C (p.Leu2445=)
|
rs754460527
|
0.00002
|
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
|
NM_000138.5(FBN1):c.7524A>G (p.Thr2508=)
|
rs201992942
|
0.00002
|
|
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=)
|
rs750331217
|
0.00002
|
|
NM_000138.5(FBN1):c.7575C>T (p.Asn2525=)
|
rs759021474
|
0.00002
|
|
NM_000138.5(FBN1):c.7683C>T (p.Thr2561=)
|
rs758353830
|
0.00002
|
|
NM_000138.5(FBN1):c.7701C>T (p.Asp2567=)
|
rs368054842
|
0.00002
|
|
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His)
|
rs369888822
|
0.00002
|
|
NM_000138.5(FBN1):c.8130C>T (p.Leu2710=)
|
rs372105662
|
0.00002
|
|
NM_000138.5(FBN1):c.8227-10G>A
|
rs765093559
|
0.00002
|
|
NM_000138.5(FBN1):c.8327G>A (p.Arg2776Gln)
|
rs748327743
|
0.00002
|
|
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys)
|
rs112310699
|
0.00002
|
|
NM_000138.5(FBN1):c.8495G>A (p.Ser2832Asn)
|
rs571906167
|
0.00002
|
|
NM_000138.5(FBN1):c.8533C>T (p.Leu2845=)
|
rs767060377
|
0.00002
|
|
NM_000138.5(FBN1):c.8G>C (p.Arg3Pro)
|
rs149929989
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1128+5G>A
|
rs76735093
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1252-15T>C
|
rs367880913
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1252G>A (p.Val418Ile)
|
rs777347006
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1321C>T (p.Pro441Ser)
|
rs199473475
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1386C>T (p.Asp462=)
|
rs749631604
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1591-4G>A
|
rs555518358
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile)
|
rs199472796
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1725C>T (p.Ser575=)
|
rs199561157
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)
|
rs750409379
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
|
rs17221854
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr)
|
rs199472813
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1795-10G>A
|
rs780067234
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser)
|
rs745990205
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1892C>G (p.Pro631Arg)
|
rs1432436411
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1935C>T (p.Gly645=)
|
rs753256738
|
0.00002
|
|
NM_000218.3(KCNQ1):c.2020G>A (p.Glu674Lys)
|
rs762122463
|
0.00002
|
|
NM_000218.3(KCNQ1):c.417C>T (p.Phe139=)
|
rs149143353
|
0.00002
|
|
NM_000218.3(KCNQ1):c.448G>A (p.Ala150Thr)
|
rs794728577
|
0.00002
|
|
NM_000218.3(KCNQ1):c.507G>A (p.Thr169=)
|
rs375845797
|
0.00002
|
|
NM_000218.3(KCNQ1):c.525C>T (p.Leu175=)
|
rs751902200
|
0.00002
|
|
NM_000218.3(KCNQ1):c.553G>A (p.Val185Met)
|
rs749351255
|
0.00002
|
|
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)
|
rs120074178
|
0.00002
|
|
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu)
|
rs200108320
|
0.00002
|
|
NM_000218.3(KCNQ1):c.642C>T (p.Cys214=)
|
rs775479779
|
0.00002
|
|
NM_000218.3(KCNQ1):c.678C>G (p.Ala226=)
|
rs771489129
|
0.00002
|
|
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)
|
rs199472737
|
0.00002
|
|
NM_000218.3(KCNQ1):c.878G>A (p.Arg293His)
|
rs199473465
|
0.00002
|
|
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)
|
rs120074187
|
0.00002
|
|
NM_000218.3(KCNQ1):c.948G>C (p.Gly316=)
|
rs727505231
|
0.00002
|
|
NM_000238.4(KCNH2):c.-12C>T
|
rs1451057996
|
0.00002
|
|
NM_000238.4(KCNH2):c.-7G>A
|
rs751399746
|
0.00002
|
|
NM_000238.4(KCNH2):c.1071G>T (p.Glu357Asp)
|
rs762016259
|
0.00002
|
|
NM_000238.4(KCNH2):c.1128+1776G>T
|
rs774570952
|
0.00002
|
|
NM_000238.4(KCNH2):c.1128+1803G>A
|
rs553291120
|
0.00002
|
|
NM_000238.4(KCNH2):c.1128+1827C>T
|
rs771048971
|
0.00002
|
|
NM_000238.4(KCNH2):c.1128+6C>T
|
rs746127862
|
0.00002
|
|
NM_000238.4(KCNH2):c.1149C>T (p.Asp383=)
|
rs201995634
|
0.00002
|
|
NM_000238.4(KCNH2):c.1158T>C (p.Pro386=)
|
rs749161732
|
0.00002
|
|
NM_000238.4(KCNH2):c.1189C>T (p.Arg397Cys)
|
rs1060500663
|
0.00002
|
|
NM_000238.4(KCNH2):c.120C>T (p.Ala40=)
|
rs146715185
|
0.00002
|
|
NM_000238.4(KCNH2):c.1374C>T (p.Ile458=)
|
rs764322241
|
0.00002
|
|
NM_000238.4(KCNH2):c.1425C>T (p.Tyr475=)
|
rs760584131
|
0.00002
|
|
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser)
|
rs562875924
|
0.00002
|
|
NM_000238.4(KCNH2):c.1462C>T (p.Arg488Cys)
|
rs281865155
|
0.00002
|
|
NM_000238.4(KCNH2):c.1551T>C (p.Ser517=)
|
rs770283713
|
0.00002
|
|
NM_000238.4(KCNH2):c.1558-6C>T
|
rs777107971
|
0.00002
|
|
NM_000238.4(KCNH2):c.1572G>A (p.Leu524=)
|
rs372089646
|
0.00002
|
|
NM_000238.4(KCNH2):c.1602C>T (p.Arg534=)
|
rs369102529
|
0.00002
|
|
NM_000238.4(KCNH2):c.1742C>T (p.Ser581Leu)
|
rs794728483
|
0.00002
|
|
NM_000238.4(KCNH2):c.2238C>G (p.Ala746=)
|
rs765110115
|
0.00002
|
|
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=)
|
rs41307292
|
0.00002
|
|
NM_000238.4(KCNH2):c.2383G>A (p.Val795Ile)
|
rs1002588450
|
0.00002
|
|
NM_000238.4(KCNH2):c.2398+112G>T
|
rs771057684
|
0.00002
|
|
NM_000238.4(KCNH2):c.2475C>T (p.Leu825=)
|
rs149367419
|
0.00002
|
|
NM_000238.4(KCNH2):c.2641T>A (p.Phe881Ile)
|
rs1197425750
|
0.00002
|
|
NM_000238.4(KCNH2):c.2648G>A (p.Arg883Gln)
|
rs748821862
|
0.00002
|
|
NM_000238.4(KCNH2):c.2751G>A (p.Pro917=)
|
rs1404614771
|
0.00002
|
|
NM_000238.4(KCNH2):c.2759G>A (p.Arg920Gln)
|
rs199473670
|
0.00002
|
|
NM_000238.4(KCNH2):c.2777C>T (p.Pro926Leu)
|
rs996063617
|
0.00002
|
|
NM_000238.4(KCNH2):c.2887C>A (p.Pro963Thr)
|
rs199473014
|
0.00002
|
|
NM_000238.4(KCNH2):c.2903C>T (p.Pro968Leu)
|
rs199473017
|
0.00002
|
|
NM_000238.4(KCNH2):c.2967C>T (p.Gly989=)
|
rs759887868
|
0.00002
|
|
NM_000238.4(KCNH2):c.3020G>A (p.Arg1007His)
|
rs199473542
|
0.00002
|
|
NM_000238.4(KCNH2):c.3049G>T (p.Ala1017Ser)
|
rs950543448
|
0.00002
|
|
NM_000238.4(KCNH2):c.3052C>G (p.Pro1018Ala)
|
rs41313764
|
0.00002
|
|
NM_000238.4(KCNH2):c.3075C>T (p.Ile1025=)
|
rs76547432
|
0.00002
|
|
NM_000238.4(KCNH2):c.3098G>A (p.Arg1033Gln)
|
rs750858069
|
0.00002
|
|
NM_000238.4(KCNH2):c.3103C>T (p.Arg1035Trp)
|
rs199473543
|
0.00002
|
|
NM_000238.4(KCNH2):c.3104G>A (p.Arg1035Gln)
|
rs761933920
|
0.00002
|
|
NM_000238.4(KCNH2):c.3139C>T (p.Arg1047Cys)
|
rs377095107
|
0.00002
|
|
NM_000238.4(KCNH2):c.3153-10C>A
|
rs781609392
|
0.00002
|
|
NM_000238.4(KCNH2):c.3153-6C>T
|
rs970093127
|
0.00002
|
|
NM_000238.4(KCNH2):c.3252G>A (p.Pro1084=)
|
rs753375396
|
0.00002
|
|
NM_000238.4(KCNH2):c.3255G>T (p.Gly1085=)
|
rs1005325992
|
0.00002
|
|
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile)
|
rs199473030
|
0.00002
|
|
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr)
|
rs199473035
|
0.00002
|
|
NM_000238.4(KCNH2):c.351C>T (p.Asn117=)
|
rs757132095
|
0.00002
|
|
NM_000238.4(KCNH2):c.398T>C (p.Met133Thr)
|
rs794728353
|
0.00002
|
|
NM_000238.4(KCNH2):c.939C>T (p.Ser313=)
|
rs778439539
|
0.00002
|
|
NM_000238.4(KCNH2):c.983G>A (p.Arg328His)
|
rs747437736
|
0.00002
|
|
NM_000256.3(MYBPC3):c.108A>G (p.Ala36=)
|
rs754870909
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met)
|
rs727503208
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1173C>T (p.Asp391=)
|
rs377328238
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1179G>A (p.Glu393=)
|
rs770549835
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1290C>T (p.Asp430=)
|
rs200664621
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1291G>A (p.Asp431Asn)
|
rs753321277
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1302C>T (p.Tyr434=)
|
rs190228518
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1320C>T (p.Gly440=)
|
rs368192024
|
0.00002
|
|
NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg)
|
rs775837337
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1351+4G>A
|
rs777487971
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1458-6G>A
|
rs375347534
|
0.00002
|
|
NM_000256.3(MYBPC3):c.147C>T (p.Ile49=)
|
rs774273586
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1563C>T (p.Asp521=)
|
rs367915627
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=)
|
rs727503199
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1791-8C>T
|
rs1346693579
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly)
|
rs372371774
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1830C>T (p.Asp610=)
|
rs768049705
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1854C>T (p.Pro618=)
|
rs1459242483
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1889A>T (p.His630Leu)
|
rs745859544
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1915G>A (p.Val639Ile)
|
rs780907679
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys)
|
rs397515939
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1964T>C (p.Ile655Thr)
|
rs1189009603
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1971C>T (p.Asp657=)
|
rs751397614
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His)
|
rs727503191
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2112C>T (p.Asp704=)
|
rs547477069
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2148+3G>A
|
rs368887584
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2154G>A (p.Leu718=)
|
rs781477048
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2163C>T (p.Thr721=)
|
rs397515951
|
0.00002
|
|
NM_000256.3(MYBPC3):c.222C>T (p.Ala74=)
|
rs985299902
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2275G>A (p.Glu759Lys)
|
rs750810342
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)
|
rs397515963
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2500C>T (p.Arg834Trp)
|
rs752007810
|
0.00002
|
|
NM_000256.3(MYBPC3):c.251G>A (p.Gly84Asp)
|
rs569824900
|
0.00002
|
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2654C>T (p.Thr885Met)
|
rs397515981
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp)
|
rs369289966
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2712C>T (p.Tyr904=)
|
rs1363489095
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2784G>C (p.Ser928=)
|
rs372510974
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)
|
rs387907267
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=)
|
rs727503181
|
0.00002
|
|
NM_000256.3(MYBPC3):c.293-6C>T
|
rs956147452
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2968C>A (p.Pro990Thr)
|
rs776100156
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys)
|
rs397515999
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3072C>A (p.Ser1024Arg)
|
rs767605155
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3097C>T (p.Arg1033Trp)
|
rs748909815
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3103G>A (p.Ala1035Thr)
|
rs552505566
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3138G>A (p.Thr1046=)
|
rs762154672
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His)
|
rs769018051
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3170C>T (p.Thr1057Met)
|
rs754115924
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3190+5G>A
|
rs587782958
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3361C>T (p.Arg1121Cys)
|
rs747738308
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3414C>T (p.Arg1138=)
|
rs753671465
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3657G>T (p.Leu1219=)
|
rs770157084
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3658G>A (p.Asp1220Asn)
|
rs1198000256
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3683G>A (p.Arg1228His)
|
rs528940575
|
0.00002
|
|
NM_000256.3(MYBPC3):c.439C>T (p.Pro147Ser)
|
rs1204042102
|
0.00002
|
|
NM_000256.3(MYBPC3):c.483A>G (p.Pro161=)
|
rs373133807
|
0.00002
|
|
NM_000256.3(MYBPC3):c.49C>T (p.Arg17Trp)
|
rs747857800
|
0.00002
|
|
NM_000256.3(MYBPC3):c.502G>A (p.Val168Met)
|
rs569740494
|
0.00002
|
|
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys)
|
rs397516063
|
0.00002
|
|
NM_000256.3(MYBPC3):c.655-15C>T
|
rs188327777
|
0.00002
|
|
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn)
|
rs369300885
|
0.00002
|
|
NM_000256.3(MYBPC3):c.712C>T (p.Arg238Cys)
|
rs771143409
|
0.00002
|
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
|
NM_000256.3(MYBPC3):c.75C>T (p.Ser25=)
|
rs1368122828
|
0.00002
|
|
NM_000256.3(MYBPC3):c.771C>T (p.His257=)
|
rs1287380656
|
0.00002
|
|
NM_000256.3(MYBPC3):c.815G>A (p.Arg272His)
|
rs759515993
|
0.00002
|
|
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His)
|
rs376461745
|
0.00002
|
|
NM_000256.3(MYBPC3):c.882C>T (p.Asp294=)
|
rs1459586065
|
0.00002
|
|
NM_000256.3(MYBPC3):c.927-9G>A
|
rs397516083
|
0.00002
|
|
NM_000256.3(MYBPC3):c.960C>T (p.Asp320=)
|
rs369900803
|
0.00002
|
|
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr)
|
rs121913640
|
0.00002
|
|
NM_000257.4(MYH7):c.11C>T (p.Ser4Leu)
|
rs758659692
|
0.00002
|
|
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val)
|
rs752349938
|
0.00002
|
|
NM_000257.4(MYH7):c.1384A>T (p.Ile462Phe)
|
rs397516105
|
0.00002
|
|
NM_000257.4(MYH7):c.1461G>A (p.Gln487=)
|
rs759736393
|
0.00002
|
|
NM_000257.4(MYH7):c.1518C>T (p.Ile506=)
|
rs397516108
|
0.00002
|
|
NM_000257.4(MYH7):c.1519G>A (p.Glu507Lys)
|
rs558212108
|
0.00002
|
|
NM_000257.4(MYH7):c.154G>A (p.Val52Met)
|
rs730880919
|
0.00002
|
|
NM_000257.4(MYH7):c.1680C>T (p.Ser560=)
|
rs763574368
|
0.00002
|
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
|
NM_000257.4(MYH7):c.1856C>T (p.Thr619Ile)
|
rs541143322
|
0.00002
|
|
NM_000257.4(MYH7):c.1913C>T (p.Ala638Val)
|
rs369935820
|
0.00002
|
|
NM_000257.4(MYH7):c.210C>T (p.Thr70=)
|
rs774429242
|
0.00002
|
|
NM_000257.4(MYH7):c.2121A>G (p.Lys707=)
|
rs1294596631
|
0.00002
|
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
|
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)
|
rs397516142
|
0.00002
|
|
NM_000257.4(MYH7):c.2420G>A (p.Arg807His)
|
rs141414377
|
0.00002
|
|
NM_000257.4(MYH7):c.2607C>T (p.Arg869=)
|
rs1365184293
|
0.00002
|
|
NM_000257.4(MYH7):c.2640G>C (p.Leu880=)
|
rs753565218
|
0.00002
|
|
NM_000257.4(MYH7):c.2641C>T (p.Leu881=)
|
rs907992794
|
0.00002
|
|
NM_000257.4(MYH7):c.2721G>A (p.Gln907=)
|
rs762170607
|
0.00002
|
|
NM_000257.4(MYH7):c.2854A>C (p.Arg952=)
|
rs529099974
|
0.00002
|
|
NM_000257.4(MYH7):c.2868T>C (p.Asp956=)
|
rs140718120
|
0.00002
|
|
NM_000257.4(MYH7):c.2976G>A (p.Leu992=)
|
rs368728770
|
0.00002
|
|
NM_000257.4(MYH7):c.29G>C (p.Gly10Ala)
|
rs730880826
|
0.00002
|
|
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)
|
rs779973529
|
0.00002
|
|
NM_000257.4(MYH7):c.3037G>A (p.Glu1013Lys)
|
rs730880764
|
0.00002
|
|
NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn)
|
rs755392435
|
0.00002
|
|
NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln)
|
rs727504342
|
0.00002
|
|
NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser)
|
rs367546859
|
0.00002
|
|
NM_000257.4(MYH7):c.3475G>A (p.Val1159Met)
|
rs730880776
|
0.00002
|
|
NM_000257.4(MYH7):c.3479A>G (p.Gln1160Arg)
|
rs1376667533
|
0.00002
|
|
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe)
|
rs201012865
|
0.00002
|
|
NM_000257.4(MYH7):c.354G>A (p.Ser118=)
|
rs368925624
|
0.00002
|
|
NM_000257.4(MYH7):c.3803G>A (p.Arg1268His)
|
rs397516194
|
0.00002
|
|
NM_000257.4(MYH7):c.3853+1G>A
|
rs202031879
|
0.00002
|
|
NM_000257.4(MYH7):c.3854-5C>T
|
rs752385694
|
0.00002
|
|
NM_000257.4(MYH7):c.3997C>G (p.Leu1333Val)
|
rs940589674
|
0.00002
|
|
NM_000257.4(MYH7):c.4017C>T (p.Asp1339=)
|
rs765801393
|
0.00002
|
|
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln)
|
rs797045097
|
0.00002
|
|
NM_000257.4(MYH7):c.4052C>T (p.Thr1351Met)
|
rs370403289
|
0.00002
|
|
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His)
|
rs750836033
|
0.00002
|
|
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile)
|
rs373231077
|
0.00002
|
|
NM_000257.4(MYH7):c.4134C>T (p.Asp1378=)
|
rs770630028
|
0.00002
|
|
NM_000257.4(MYH7):c.4389G>A (p.Ser1463=)
|
rs781203524
|
0.00002
|
|
NM_000257.4(MYH7):c.4500G>A (p.Arg1500=)
|
rs199995198
|
0.00002
|
|
NM_000257.4(MYH7):c.4520-11T>C
|
rs778736821
|
0.00002
|
|
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=)
|
rs150552664
|
0.00002
|
|
NM_000257.4(MYH7):c.4558G>A (p.Gly1520Arg)
|
rs763683589
|
0.00002
|
|
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=)
|
rs376854724
|
0.00002
|
|
NM_000257.4(MYH7):c.4687C>G (p.Leu1563Val)
|
rs376843222
|
0.00002
|
|
NM_000257.4(MYH7):c.4762C>T (p.Arg1588Cys)
|
rs1194197356
|
0.00002
|
|
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser)
|
rs730880913
|
0.00002
|
|
NM_000257.4(MYH7):c.4834C>T (p.Leu1612=)
|
rs397516229
|
0.00002
|
|
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)
|
rs150241539
|
0.00002
|
|
NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val)
|
rs1195157116
|
0.00002
|
|
NM_000257.4(MYH7):c.4996G>A (p.Asp1666Asn)
|
rs747993770
|
0.00002
|
|
NM_000257.4(MYH7):c.5020G>A (p.Val1674Met)
|
rs397516235
|
0.00002
|
|
NM_000257.4(MYH7):c.503-4A>G
|
rs376022200
|
0.00002
|
|
NM_000257.4(MYH7):c.5090G>A (p.Arg1697Gln)
|
rs766831916
|
0.00002
|
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
|
NM_000257.4(MYH7):c.5286C>T (p.Ala1762=)
|
rs771432461
|
0.00002
|
|
NM_000257.4(MYH7):c.5340G>A (p.Glu1780=)
|
rs752882625
|
0.00002
|
|
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)
|
rs369940645
|
0.00002
|
|
NM_000257.4(MYH7):c.5484C>T (p.Ala1828=)
|
rs202175645
|
0.00002
|
|
NM_000257.4(MYH7):c.5485G>A (p.Glu1829Lys)
|
rs143562243
|
0.00002
|
|
NM_000257.4(MYH7):c.5529C>T (p.Ser1843=)
|
rs761162402
|
0.00002
|
|
NM_000257.4(MYH7):c.5537G>A (p.Arg1846His)
|
rs757803046
|
0.00002
|
|
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met)
|
rs372381770
|
0.00002
|
|
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln)
|
rs187073962
|
0.00002
|
|
NM_000257.4(MYH7):c.5730G>A (p.Ala1910=)
|
rs776940948
|
0.00002
|
|
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=)
|
rs200728597
|
0.00002
|
|
NM_000257.4(MYH7):c.5800G>A (p.Glu1934Lys)
|
rs730880825
|
0.00002
|
|
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu)
|
rs727503277
|
0.00002
|
|
NM_000257.4(MYH7):c.733-3C>T
|
rs765068619
|
0.00002
|
|
NM_000257.4(MYH7):c.797-10C>A
|
rs757287735
|
0.00002
|
|
NM_000257.4(MYH7):c.910A>T (p.Thr304Ser)
|
rs730880858
|
0.00002
|
|
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)
|
rs730880923
|
0.00002
|
|
NM_000257.4(MYH7):c.958G>A (p.Val320Met)
|
rs376897125
|
0.00002
|
|
NM_000258.3(MYL3):c.*3C>T
|
rs748154150
|
0.00002
|
|
NM_000258.3(MYL3):c.*6G>A
|
rs754568155
|
0.00002
|
|
NM_000258.3(MYL3):c.105C>T (p.Val35=)
|
rs771114109
|
0.00002
|
|
NM_000258.3(MYL3):c.136T>C (p.Phe46Leu)
|
rs730880953
|
0.00002
|
|
NM_000258.3(MYL3):c.140C>T (p.Thr47Ile)
|
rs778515428
|
0.00002
|
|
NM_000258.3(MYL3):c.152T>C (p.Ile51Thr)
|
rs749017586
|
0.00002
|
|
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys)
|
rs565312070
|
0.00002
|
|
NM_000258.3(MYL3):c.219C>T (p.Tyr73=)
|
rs780500137
|
0.00002
|
|
NM_000258.3(MYL3):c.280C>T (p.Arg94Cys)
|
rs730880961
|
0.00002
|
|
NM_000258.3(MYL3):c.286C>T (p.Leu96=)
|
rs772804040
|
0.00002
|
|
NM_000258.3(MYL3):c.360C>T (p.His120=)
|
rs1314822874
|
0.00002
|
|
NM_000258.3(MYL3):c.461G>A (p.Arg154His)
|
rs104893749
|
0.00002
|
|
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)
|
rs193922391
|
0.00002
|
|
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)
|
rs145520567
|
0.00002
|
|
NM_000258.3(MYL3):c.61C>T (p.Pro21Ser)
|
rs779557153
|
0.00002
|
|
NM_000335.5(SCN5A):c.1035C>T (p.Gly345=)
|
rs764026969
|
0.00002
|
|
NM_000335.5(SCN5A):c.1237G>A (p.Ala413Thr)
|
rs199473110
|
0.00002
|
|
NM_000335.5(SCN5A):c.1308G>A (p.Glu436=)
|
rs555224775
|
0.00002
|
|
NM_000335.5(SCN5A):c.144G>A (p.Glu48=)
|
rs774776329
|
0.00002
|
|
NM_000335.5(SCN5A):c.1579G>A (p.Gly527Arg)
|
rs763550164
|
0.00002
|
|
NM_000335.5(SCN5A):c.1588T>G (p.Phe530Val)
|
rs199473120
|
0.00002
|
|
NM_000335.5(SCN5A):c.158G>A (p.Arg53Gln)
|
rs199473049
|
0.00002
|
|
NM_000335.5(SCN5A):c.1594T>C (p.Phe532Leu)
|
rs776663050
|
0.00002
|
|
NM_000335.5(SCN5A):c.1677A>G (p.Thr559=)
|
rs376389170
|
0.00002
|
|
NM_000335.5(SCN5A):c.1702C>T (p.Arg568Cys)
|
rs45600438
|
0.00002
|
|
NM_000335.5(SCN5A):c.1764T>C (p.His588=)
|
rs775985491
|
0.00002
|
|
NM_000335.5(SCN5A):c.1944G>A (p.Pro648=)
|
rs773792853
|
0.00002
|
|
NM_000335.5(SCN5A):c.1975C>T (p.Arg659Trp)
|
rs730880205
|
0.00002
|
|
NM_000335.5(SCN5A):c.1992C>T (p.Ser664=)
|
rs368167264
|
0.00002
|
|
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=)
|
rs587781161
|
0.00002
|
|
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr)
|
rs199473140
|
0.00002
|
|
NM_000335.5(SCN5A):c.2039G>A (p.Arg680His)
|
rs199473142
|
0.00002
|
|
NM_000335.5(SCN5A):c.206G>A (p.Gly69Asp)
|
rs758404546
|
0.00002
|
|
NM_000335.5(SCN5A):c.2141T>C (p.Val714Ala)
|
rs759036311
|
0.00002
|
|
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile)
|
rs958480279
|
0.00002
|
|
NM_000335.5(SCN5A):c.2224A>G (p.Thr742Ala)
|
rs762058225
|
0.00002
|
|
NM_000335.5(SCN5A):c.2235C>T (p.Phe745=)
|
rs765282813
|
0.00002
|
|
NM_000335.5(SCN5A):c.2365G>A (p.Val789Ile)
|
rs199473159
|
0.00002
|
|
NM_000335.5(SCN5A):c.23G>A (p.Arg8Gln)
|
rs564261427
|
0.00002
|
|
NM_000335.5(SCN5A):c.2613C>T (p.Ser871=)
|
rs1403998634
|
0.00002
|
|
NM_000335.5(SCN5A):c.2667C>T (p.Leu889=)
|
rs587781162
|
0.00002
|
|
NM_000335.5(SCN5A):c.280A>G (p.Ile94Val)
|
rs202114798
|
0.00002
|
|
NM_000335.5(SCN5A):c.2886C>T (p.Ala962=)
|
rs544057915
|
0.00002
|
|
NM_000335.5(SCN5A):c.2931C>G (p.Thr977=)
|
rs780713625
|
0.00002
|
|
NM_000335.5(SCN5A):c.2976C>T (p.Pro992=)
|
rs193922725
|
0.00002
|
|
NM_000335.5(SCN5A):c.3067C>T (p.Arg1023Cys)
|
rs745435760
|
0.00002
|
|
NM_000335.5(SCN5A):c.3098A>G (p.Gln1033Arg)
|
rs199473641
|
0.00002
|
|
NM_000335.5(SCN5A):c.3121G>A (p.Asp1041Asn)
|
rs45491996
|
0.00002
|
|
NM_000335.5(SCN5A):c.3132C>T (p.Pro1044=)
|
rs547709944
|
0.00002
|
|
NM_000335.5(SCN5A):c.328G>A (p.Ala110Thr)
|
rs730880202
|
0.00002
|
|
NM_000335.5(SCN5A):c.3297G>A (p.Ala1099=)
|
rs1405503955
|
0.00002
|
|
NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys)
|
rs199473193
|
0.00002
|
|
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)
|
rs561922849
|
0.00002
|
|
NM_000335.5(SCN5A):c.3382G>A (p.Gly1128Ser)
|
rs879229776
|
0.00002
|
|
NM_000335.5(SCN5A):c.3408C>T (p.Ser1136=)
|
rs553231555
|
0.00002
|
|
NM_000335.5(SCN5A):c.3581G>A (p.Arg1194His)
|
rs199473596
|
0.00002
|
|
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=)
|
rs371610895
|
0.00002
|
|
NM_000335.5(SCN5A):c.3984C>T (p.Gly1328=)
|
rs761384669
|
0.00002
|
|
NM_000335.5(SCN5A):c.4015G>A (p.Val1339Ile)
|
rs199473605
|
0.00002
|
|
NM_000335.5(SCN5A):c.4087A>G (p.Ile1363Val)
|
rs369411869
|
0.00002
|
|
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg)
|
rs780405533
|
0.00002
|
|
NM_000335.5(SCN5A):c.417C>T (p.Cys139=)
|
rs528430154
|
0.00002
|
|
NM_000335.5(SCN5A):c.41G>A (p.Arg14His)
|
rs1223977399
|
0.00002
|
|
NM_000335.5(SCN5A):c.4209C>T (p.Asn1403=)
|
rs397517954
|
0.00002
|
|
NM_000335.5(SCN5A):c.436G>A (p.Val146Met)
|
rs199473061
|
0.00002
|
|
NM_000335.5(SCN5A):c.4443C>T (p.Gly1481=)
|
rs779664400
|
0.00002
|
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
|
NM_000335.5(SCN5A):c.453C>T (p.His151=)
|
rs199996750
|
0.00002
|
|
NM_000335.5(SCN5A):c.4540-7C>T
|
rs1553693746
|
0.00002
|
|
NM_000335.5(SCN5A):c.4625T>C (p.Val1542Ala)
|
rs551383710
|
0.00002
|
|
NM_000335.5(SCN5A):c.4695C>G (p.Leu1565=)
|
rs727505094
|
0.00002
|
|
NM_000335.5(SCN5A):c.4738G>T (p.Ala1580Ser)
|
rs879102447
|
0.00002
|
|
NM_000335.5(SCN5A):c.480C>T (p.Val160=)
|
rs549015769
|
0.00002
|
|
NM_000335.5(SCN5A):c.4854G>A (p.Pro1618=)
|
rs368031564
|
0.00002
|
|
NM_000335.5(SCN5A):c.4857G>A (p.Thr1619=)
|
rs753174463
|
0.00002
|
|
NM_000335.5(SCN5A):c.495C>T (p.Thr165=)
|
rs62242804
|
0.00002
|
|
NM_000335.5(SCN5A):c.4965C>A (p.Ala1655=)
|
rs751589251
|
0.00002
|
|
NM_000335.5(SCN5A):c.5039A>T (p.Tyr1680Phe)
|
rs764011043
|
0.00002
|
|
NM_000335.5(SCN5A):c.5061C>T (p.Ile1687=)
|
rs145731678
|
0.00002
|
|
NM_000335.5(SCN5A):c.5171C>T (p.Pro1724Leu)
|
rs199473301
|
0.00002
|
|
NM_000335.5(SCN5A):c.5213G>A (p.Arg1738Gln)
|
rs200217157
|
0.00002
|
|
NM_000335.5(SCN5A):c.5326G>A (p.Val1776Met)
|
rs199473314
|
0.00002
|
|
NM_000335.5(SCN5A):c.5697C>T (p.His1899=)
|
rs376361103
|
0.00002
|
|
NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His)
|
rs199473327
|
0.00002
|
|
NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His)
|
rs727504822
|
0.00002
|
|
NM_000335.5(SCN5A):c.5842G>A (p.Ala1948Thr)
|
rs199473330
|
0.00002
|
|
NM_000335.5(SCN5A):c.5952C>T (p.Ser1984=)
|
rs1005750243
|
0.00002
|
|
NM_000335.5(SCN5A):c.5953G>A (p.Asp1985Asn)
|
rs756562718
|
0.00002
|
|
NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg)
|
rs145009013
|
0.00002
|
|
NM_000335.5(SCN5A):c.6021G>A (p.Pro2007=)
|
rs765024596
|
0.00002
|
|
NM_000335.5(SCN5A):c.6027G>A (p.Arg2009=)
|
rs764556359
|
0.00002
|
|
NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys)
|
rs199473640
|
0.00002
|
|
NM_000335.5(SCN5A):c.612-2A>G
|
rs370438420
|
0.00002
|
|
NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys)
|
rs762012668
|
0.00002
|
|
NM_000335.5(SCN5A):c.845G>A (p.Arg282His)
|
rs199473083
|
0.00002
|
|
NM_000335.5(SCN5A):c.871A>C (p.Asn291His)
|
rs36210420
|
0.00002
|
|
NM_000335.5(SCN5A):c.874G>A (p.Gly292Ser)
|
rs199473085
|
0.00002
|
|
NM_000335.5(SCN5A):c.876C>T (p.Gly292=)
|
rs758815064
|
0.00002
|
|
NM_000335.5(SCN5A):c.888C>T (p.Ala296=)
|
rs774132896
|
0.00002
|
|
NM_000363.5(TNNI3):c.151-6C>G
|
rs377258542
|
0.00002
|
|
NM_000363.5(TNNI3):c.283-9C>T
|
rs759922995
|
0.00002
|
|
NM_000363.5(TNNI3):c.347C>G (p.Ala116Gly)
|
rs777177571
|
0.00002
|
|
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)
|
rs397516349
|
0.00002
|
|
NM_000363.5(TNNI3):c.439G>C (p.Val147Leu)
|
rs777782551
|
0.00002
|
|
NM_000363.5(TNNI3):c.471G>A (p.Ala157=)
|
rs747756509
|
0.00002
|
|
NM_000363.5(TNNI3):c.92C>T (p.Thr31Met)
|
rs201928445
|
0.00002
|
|
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter)
|
rs201728041
|
0.00002
|
|
NM_000432.4(MYL2):c.216G>A (p.Glu72=)
|
rs376506450
|
0.00002
|
|
NM_000432.4(MYL2):c.222G>A (p.Pro74=)
|
rs372644111
|
0.00002
|
|
NM_000432.4(MYL2):c.256T>C (p.Phe86Leu)
|
rs765287559
|
0.00002
|
|
NM_000432.4(MYL2):c.30C>T (p.Ala10=)
|
rs752641375
|
0.00002
|
|
NM_000432.4(MYL2):c.355G>A (p.Val119Ile)
|
rs730880940
|
0.00002
|
|
NM_000432.4(MYL2):c.4-8T>C
|
rs750730703
|
0.00002
|
|
NM_000432.4(MYL2):c.402+6G>C
|
rs749765328
|
0.00002
|
|
NM_000432.4(MYL2):c.42C>T (p.Asn14=)
|
rs878853980
|
0.00002
|
|
NM_000432.4(MYL2):c.430C>G (p.Pro144Ala)
|
rs777689913
|
0.00002
|
|
NM_000432.4(MYL2):c.436G>A (p.Val146Met)
|
rs370075755
|
0.00002
|
|
NM_000432.4(MYL2):c.468G>A (p.Val156=)
|
rs137984206
|
0.00002
|
|
NM_000432.4(MYL2):c.474C>T (p.Ile158=)
|
rs1423130699
|
0.00002
|
|
NM_001005242.3(PKP2):c.-7C>T
|
rs959129403
|
0.00002
|
|
NM_001005242.3(PKP2):c.1045A>G (p.Met349Val)
|
rs199957846
|
0.00002
|
|
NM_001005242.3(PKP2):c.1127T>C (p.Phe376Ser)
|
rs56869013
|
0.00002
|
|
NM_001005242.3(PKP2):c.1144T>C (p.Phe382Leu)
|
rs753839199
|
0.00002
|
|
NM_001005242.3(PKP2):c.1171-13G>A
|
rs200137461
|
0.00002
|
|
NM_001005242.3(PKP2):c.1183C>T (p.Arg395Cys)
|
rs761238380
|
0.00002
|
|
NM_001005242.3(PKP2):c.1206G>A (p.Gln402=)
|
rs773905605
|
0.00002
|
|
NM_001005242.3(PKP2):c.1308A>G (p.Leu436=)
|
rs1439169005
|
0.00002
|
|
NM_001005242.3(PKP2):c.1322G>A (p.Arg441Gln)
|
rs753912985
|
0.00002
|
|
NM_001005242.3(PKP2):c.1379-1972G>A
|
rs779392697
|
0.00002
|
|
NM_001005242.3(PKP2):c.1379-2012C>T
|
rs760461056
|
0.00002
|
|
NM_001005242.3(PKP2):c.1379-2071G>A
|
rs776244945
|
0.00002
|
|
NM_001005242.3(PKP2):c.1379-2103A>G
|
rs764608036
|
0.00002
|
|
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
|
rs193922672
|
0.00002
|
|
NM_001005242.3(PKP2):c.1483C>G (p.Pro495Ala)
|
rs543325231
|
0.00002
|
|
NM_001005242.3(PKP2):c.1510G>T (p.Gly504Cys)
|
rs374641292
|
0.00002
|
|
NM_001005242.3(PKP2):c.1557-14G>T
|
rs748072057
|
0.00002
|
|
NM_001005242.3(PKP2):c.155A>G (p.Lys52Arg)
|
rs549598534
|
0.00002
|
|
NM_001005242.3(PKP2):c.1610G>A (p.Gly537Glu)
|
rs866789949
|
0.00002
|
|
NM_001005242.3(PKP2):c.1840-7T>C
|
rs1362643840
|
0.00002
|
|
NM_001005242.3(PKP2):c.1878C>T (p.Asn626=)
|
rs769943903
|
0.00002
|
|
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)
|
rs368325383
|
0.00002
|
|
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser)
|
rs143323961
|
0.00002
|
|
NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg)
|
rs776915959
|
0.00002
|
|
NM_001005242.3(PKP2):c.1952G>A (p.Arg651His)
|
rs758813231
|
0.00002
|
|
NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala)
|
rs867374780
|
0.00002
|
|
NM_001005242.3(PKP2):c.2072G>A (p.Arg691Gln)
|
rs547215531
|
0.00002
|
|
NM_001005242.3(PKP2):c.2140C>T (p.Arg714Trp)
|
rs537046857
|
0.00002
|
|
NM_001005242.3(PKP2):c.2234T>C (p.Ile745Thr)
|
rs543233804
|
0.00002
|
|
NM_001005242.3(PKP2):c.2316C>T (p.Thr772=)
|
rs369837002
|
0.00002
|
|
NM_001005242.3(PKP2):c.2404T>G (p.Ser802Ala)
|
rs1183143350
|
0.00002
|
|
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met)
|
rs146118033
|
0.00002
|
|
NM_001005242.3(PKP2):c.2421G>A (p.Thr807=)
|
rs199900632
|
0.00002
|
|
NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile)
|
rs370599966
|
0.00002
|
|
NM_001005242.3(PKP2):c.288T>G (p.Asp96Glu)
|
rs762825735
|
0.00002
|
|
NM_001005242.3(PKP2):c.382G>A (p.Ala128Thr)
|
rs1193697338
|
0.00002
|
|
NM_001005242.3(PKP2):c.387G>A (p.Gln129=)
|
rs768974835
|
0.00002
|
|
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)
|
rs727503373
|
0.00002
|
|
NM_001005242.3(PKP2):c.558C>T (p.Ala186=)
|
rs184522105
|
0.00002
|
|
NM_001005242.3(PKP2):c.582T>C (p.Tyr194=)
|
rs532048791
|
0.00002
|
|
NM_001005242.3(PKP2):c.587G>A (p.Arg196His)
|
rs146566525
|
0.00002
|
|
NM_001005242.3(PKP2):c.600G>A (p.Val200=)
|
rs781305034
|
0.00002
|
|
NM_001005242.3(PKP2):c.602G>A (p.Gly201Glu)
|
rs757316313
|
0.00002
|
|
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu)
|
rs746530389
|
0.00002
|
|
NM_001005242.3(PKP2):c.804C>T (p.Val268=)
|
rs781271804
|
0.00002
|
|
NM_001005242.3(PKP2):c.818C>T (p.Pro273Leu)
|
rs878943755
|
0.00002
|
|
NM_001005242.3(PKP2):c.976G>A (p.Ala326Thr)
|
rs148480056
|
0.00002
|
|
NM_001005242.3(PKP2):c.978A>G (p.Ala326=)
|
rs775137004
|
0.00002
|
|
NM_001018004.2(TPM1):c.773-1155del
|
rs762701496
|
0.00002
|
|
NM_001018004.2(TPM1):c.773-1218del
|
rs1249033660
|
0.00002
|
|
NM_001018005.2(TPM1):c.31C>T (p.Leu11=)
|
rs766883758
|
0.00002
|
|
NM_001018005.2(TPM1):c.493-7G>A
|
rs745830368
|
0.00002
|
|
NM_001018005.2(TPM1):c.564-5A>G
|
rs550286836
|
0.00002
|
|
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)
|
rs730881151
|
0.00002
|
|
NM_001018005.2(TPM1):c.645G>A (p.Ser215=)
|
rs773403386
|
0.00002
|
|
NM_001018005.2(TPM1):c.663T>C (p.Tyr221=)
|
rs774859181
|
0.00002
|
|
NM_001035.3(RYR2):c.10059C>A (p.Leu3353=)
|
rs370015676
|
0.00002
|
|
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala)
|
rs565413020
|
0.00002
|
|
NM_001035.3(RYR2):c.10258G>A (p.Val3420Ile)
|
rs397516497
|
0.00002
|
|
NM_001035.3(RYR2):c.10360C>T (p.Arg3454Cys)
|
rs773252606
|
0.00002
|
|
NM_001035.3(RYR2):c.10373G>A (p.Arg3458Gln)
|
rs762944627
|
0.00002
|
|
NM_001035.3(RYR2):c.10444G>A (p.Ala3482Thr)
|
rs757656504
|
0.00002
|
|
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)
|
rs748805290
|
0.00002
|
|
NM_001035.3(RYR2):c.10557G>T (p.Leu3519Phe)
|
rs558910032
|
0.00002
|
|
NM_001035.3(RYR2):c.10708C>T (p.Arg3570Trp)
|
rs765835441
|
0.00002
|
|
NM_001035.3(RYR2):c.11090A>G (p.Lys3697Arg)
|
rs754610757
|
0.00002
|
|
NM_001035.3(RYR2):c.11208G>A (p.Ala3736=)
|
rs750384592
|
0.00002
|
|
NM_001035.3(RYR2):c.1166G>A (p.Arg389His)
|
rs200685968
|
0.00002
|
|
NM_001035.3(RYR2):c.1171-11C>T
|
rs200226512
|
0.00002
|
|
NM_001035.3(RYR2):c.11963-4C>T
|
rs747161273
|
0.00002
|
|
NM_001035.3(RYR2):c.11982G>A (p.Thr3994=)
|
rs368634803
|
0.00002
|
|
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)
|
rs755148895
|
0.00002
|
|
NM_001035.3(RYR2):c.12092C>A (p.Thr4031Asn)
|
rs781478740
|
0.00002
|
|
NM_001035.3(RYR2):c.12111C>T (p.Pro4037=)
|
rs770463326
|
0.00002
|
|
NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu)
|
rs759830423
|
0.00002
|
|
NM_001035.3(RYR2):c.12215C>T (p.Thr4072Met)
|
rs928224285
|
0.00002
|
|
NM_001035.3(RYR2):c.12282C>T (p.Ile4094=)
|
rs764339831
|
0.00002
|
|
NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)
|
rs192890834
|
0.00002
|
|
NM_001035.3(RYR2):c.12579C>T (p.Cys4193=)
|
rs369532267
|
0.00002
|
|
NM_001035.3(RYR2):c.12648G>A (p.Ala4216=)
|
rs781557399
|
0.00002
|
|
NM_001035.3(RYR2):c.12674G>A (p.Arg4225Lys)
|
rs1223110750
|
0.00002
|
|
NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly)
|
rs1386632671
|
0.00002
|
|
NM_001035.3(RYR2):c.12957C>T (p.Val4319=)
|
rs727504438
|
0.00002
|
|
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val)
|
rs758904216
|
0.00002
|
|
NM_001035.3(RYR2):c.13213C>T (p.Leu4405Phe)
|
rs568257273
|
0.00002
|
|
NM_001035.3(RYR2):c.1354G>A (p.Val452Ile)
|
rs375218751
|
0.00002
|
|
NM_001035.3(RYR2):c.13563+4C>T
|
rs926460699
|
0.00002
|
|
NM_001035.3(RYR2):c.13635A>T (p.Thr4545=)
|
rs779762647
|
0.00002
|
|
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met)
|
rs200803276
|
0.00002
|
|
NM_001035.3(RYR2):c.1404G>A (p.Glu468=)
|
rs768538183
|
0.00002
|
|
NM_001035.3(RYR2):c.14434-14T>A
|
rs1490862924
|
0.00002
|
|
NM_001035.3(RYR2):c.1464C>T (p.Leu488=)
|
rs755432808
|
0.00002
|
|
NM_001035.3(RYR2):c.14721C>T (p.Thr4907=)
|
rs766261818
|
0.00002
|
|
NM_001035.3(RYR2):c.1476+3C>T
|
rs1387762631
|
0.00002
|
|
NM_001035.3(RYR2):c.14871C>T (p.Cys4957=)
|
rs752034170
|
0.00002
|
|
NM_001035.3(RYR2):c.1614G>A (p.Ala538=)
|
rs566885717
|
0.00002
|
|
NM_001035.3(RYR2):c.1675A>G (p.Ile559Val)
|
rs773609522
|
0.00002
|
|
NM_001035.3(RYR2):c.1707A>G (p.Ser569=)
|
rs757215216
|
0.00002
|
|
NM_001035.3(RYR2):c.1709-4T>C
|
rs1482457874
|
0.00002
|
|
NM_001035.3(RYR2):c.186C>T (p.Leu62=)
|
rs754375280
|
0.00002
|
|
NM_001035.3(RYR2):c.1940G>A (p.Arg647His)
|
rs766330093
|
0.00002
|
|
NM_001035.3(RYR2):c.2130C>T (p.Gly710=)
|
rs536694711
|
0.00002
|
|
NM_001035.3(RYR2):c.2251A>G (p.Thr751Ala)
|
rs878854154
|
0.00002
|
|
NM_001035.3(RYR2):c.232C>T (p.Leu78=)
|
rs1454549719
|
0.00002
|
|
NM_001035.3(RYR2):c.2374G>A (p.Val792Ile)
|
rs764485892
|
0.00002
|
|
NM_001035.3(RYR2):c.2397-12C>T
|
rs754549931
|
0.00002
|
|
NM_001035.3(RYR2):c.2459C>G (p.Ala820Gly)
|
rs748492817
|
0.00002
|
|
NM_001035.3(RYR2):c.2506C>A (p.His836Asn)
|
rs760544949
|
0.00002
|
|
NM_001035.3(RYR2):c.2909A>G (p.Tyr970Cys)
|
rs753510394
|
0.00002
|
|
NM_001035.3(RYR2):c.3163C>T (p.Arg1055Cys)
|
rs754181384
|
0.00002
|
|
NM_001035.3(RYR2):c.3168G>A (p.Thr1056=)
|
rs1183058696
|
0.00002
|
|
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=)
|
rs398123540
|
0.00002
|
|
NM_001035.3(RYR2):c.322G>A (p.Gly108Ser)
|
rs1431073529
|
0.00002
|
|
NM_001035.3(RYR2):c.3237C>T (p.Ser1079=)
|
rs770116364
|
0.00002
|
|
NM_001035.3(RYR2):c.3484G>A (p.Val1162Met)
|
rs377030538
|
0.00002
|
|
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys)
|
rs397516527
|
0.00002
|
|
NM_001035.3(RYR2):c.36G>C (p.Gln12His)
|
rs746811389
|
0.00002
|
|
NM_001035.3(RYR2):c.372C>G (p.Ser124=)
|
rs1478989523
|
0.00002
|
|
NM_001035.3(RYR2):c.3921G>A (p.Pro1307=)
|
rs201469656
|
0.00002
|
|
NM_001035.3(RYR2):c.3933G>A (p.Ala1311=)
|
rs573948177
|
0.00002
|
|
NM_001035.3(RYR2):c.3978C>G (p.Gly1326=)
|
rs745839967
|
0.00002
|
|
NM_001035.3(RYR2):c.40C>T (p.Leu14=)
|
rs878854156
|
0.00002
|
|
NM_001035.3(RYR2):c.4161-5T>C
|
rs1416816823
|
0.00002
|
|
NM_001035.3(RYR2):c.4489G>A (p.Gly1497Arg)
|
rs748678280
|
0.00002
|
|
NM_001035.3(RYR2):c.453G>A (p.Glu151=)
|
rs541334277
|
0.00002
|
|
NM_001035.3(RYR2):c.458C>T (p.Thr153Ile)
|
rs766802574
|
0.00002
|
|
NM_001035.3(RYR2):c.4596+6C>T
|
rs766080208
|
0.00002
|
|
NM_001035.3(RYR2):c.4684-15C>T
|
rs201780507
|
0.00002
|
|
NM_001035.3(RYR2):c.469G>T (p.Ala157Ser)
|
rs753443369
|
0.00002
|
|
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg)
|
rs765351308
|
0.00002
|
|
NM_001035.3(RYR2):c.4848C>G (p.Gly1616=)
|
rs1308711902
|
0.00002
|
|
NM_001035.3(RYR2):c.4852T>C (p.Leu1618=)
|
rs780985525
|
0.00002
|
|
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=)
|
rs1060503853
|
0.00002
|
|
NM_001035.3(RYR2):c.4917T>C (p.Val1639=)
|
rs1060503850
|
0.00002
|
|
NM_001035.3(RYR2):c.5010C>T (p.His1670=)
|
rs562273071
|
0.00002
|
|
NM_001035.3(RYR2):c.5096G>A (p.Arg1699His)
|
rs779464111
|
0.00002
|
|
NM_001035.3(RYR2):c.5199G>A (p.Thr1733=)
|
rs758505260
|
0.00002
|
|
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)
|
rs754364233
|
0.00002
|
|
NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys)
|
rs749184443
|
0.00002
|
|
NM_001035.3(RYR2):c.556G>A (p.Val186Met)
|
rs201211033
|
0.00002
|
|
NM_001035.3(RYR2):c.5574G>A (p.Glu1858=)
|
rs752393757
|
0.00002
|
|
NM_001035.3(RYR2):c.5602C>A (p.Leu1868Ile)
|
rs768636940
|
0.00002
|
|
NM_001035.3(RYR2):c.5801C>T (p.Ala1934Val)
|
rs368009389
|
0.00002
|
|
NM_001035.3(RYR2):c.5825T>G (p.Phe1942Cys)
|
rs397516546
|
0.00002
|
|
NM_001035.3(RYR2):c.5917A>G (p.Ile1973Val)
|
rs780681855
|
0.00002
|
|
NM_001035.3(RYR2):c.6006T>C (p.Asp2002=)
|
rs1234291975
|
0.00002
|
|
NM_001035.3(RYR2):c.6013A>G (p.Thr2005Ala)
|
rs373235823
|
0.00002
|
|
NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr)
|
rs142498105
|
0.00002
|
|
NM_001035.3(RYR2):c.6495G>A (p.Leu2165=)
|
rs1328477417
|
0.00002
|
|
NM_001035.3(RYR2):c.6726G>A (p.Val2242=)
|
rs767246962
|
0.00002
|
|
NM_001035.3(RYR2):c.6793-12T>C
|
rs180775271
|
0.00002
|
|
NM_001035.3(RYR2):c.6800G>A (p.Arg2267His)
|
rs759012078
|
0.00002
|
|
NM_001035.3(RYR2):c.7063G>A (p.Glu2355Lys)
|
rs754990305
|
0.00002
|
|
NM_001035.3(RYR2):c.7284C>T (p.Pro2428=)
|
rs563608396
|
0.00002
|
|
NM_001035.3(RYR2):c.7315G>A (p.Ala2439Thr)
|
rs367818536
|
0.00002
|
|
NM_001035.3(RYR2):c.7329A>G (p.Pro2443=)
|
rs375553387
|
0.00002
|
|
NM_001035.3(RYR2):c.7458T>G (p.His2486Gln)
|
rs377763795
|
0.00002
|
|
NM_001035.3(RYR2):c.7795T>C (p.Leu2599=)
|
rs527974959
|
0.00002
|
|
NM_001035.3(RYR2):c.782A>G (p.His261Arg)
|
rs577416427
|
0.00002
|
|
NM_001035.3(RYR2):c.8130T>G (p.Asn2710Lys)
|
rs876661388
|
0.00002
|
|
NM_001035.3(RYR2):c.8205C>A (p.Asp2735Glu)
|
rs794728823
|
0.00002
|
|
NM_001035.3(RYR2):c.8357G>C (p.Gly2786Ala)
|
rs1060500149
|
0.00002
|
|
NM_001035.3(RYR2):c.8398C>G (p.Leu2800Val)
|
rs1060500143
|
0.00002
|
|
NM_001035.3(RYR2):c.8408G>A (p.Arg2803Gln)
|
rs780643623
|
0.00002
|
|
NM_001035.3(RYR2):c.8449G>A (p.Ala2817Thr)
|
rs527576067
|
0.00002
|
|
NM_001035.3(RYR2):c.8696A>G (p.Asn2899Ser)
|
rs1057524444
|
0.00002
|
|
NM_001035.3(RYR2):c.8742G>A (p.Thr2914=)
|
rs751520306
|
0.00002
|
|
NM_001035.3(RYR2):c.8798T>G (p.Val2933Gly)
|
rs550691734
|
0.00002
|
|
NM_001035.3(RYR2):c.8876A>C (p.Glu2959Ala)
|
rs536037366
|
0.00002
|
|
NM_001035.3(RYR2):c.8895+5A>G
|
rs375788753
|
0.00002
|
|
NM_001035.3(RYR2):c.8896-14T>C
|
rs761596075
|
0.00002
|
|
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val)
|
rs370141970
|
0.00002
|
|
NM_001035.3(RYR2):c.9094T>G (p.Cys3032Gly)
|
rs193007458
|
0.00002
|
|
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)
|
rs876657994
|
0.00002
|
|
NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn)
|
rs1060500168
|
0.00002
|
|
NM_001035.3(RYR2):c.9585C>T (p.Leu3195=)
|
rs747861813
|
0.00002
|
|
NM_001035.3(RYR2):c.9673G>A (p.Gly3225Ser)
|
rs780484631
|
0.00002
|
|
NM_001035.3(RYR2):c.9738G>A (p.Met3246Ile)
|
rs771846177
|
0.00002
|
|
NM_001035.3(RYR2):c.9743G>A (p.Arg3248His)
|
rs1041429670
|
0.00002
|
|
NM_001040113.2(MYH11):c.5811G>C (p.Gly1937=)
|
rs778350253
|
0.00002
|
|
NM_001276345.2(TNNT2):c.110C>G (p.Ala37Gly)
|
rs776406819
|
0.00002
|
|
NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)
|
rs144900708
|
0.00002
|
|
NM_001276345.2(TNNT2):c.282A>G (p.Arg94=)
|
rs397516453
|
0.00002
|
|
NM_001276345.2(TNNT2):c.295-13G>A
|
rs764804961
|
0.00002
|
|
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val)
|
rs727504245
|
0.00002
|
|
NM_001276345.2(TNNT2):c.34G>A (p.Glu12Lys)
|
rs760247765
|
0.00002
|
|
NM_001276345.2(TNNT2):c.391G>A (p.Val131Ile)
|
rs537067344
|
0.00002
|
|
NM_001276345.2(TNNT2):c.40G>A (p.Glu14Lys)
|
rs772890125
|
0.00002
|
|
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser)
|
rs730881097
|
0.00002
|
|
NM_001276345.2(TNNT2):c.610-15T>A
|
rs950076691
|
0.00002
|
|
NM_001276345.2(TNNT2):c.63T>G (p.Val21=)
|
rs397516477
|
0.00002
|
|
NM_001276345.2(TNNT2):c.720-6G>A
|
rs113471285
|
0.00002
|
|
NM_001613.4(ACTA2):c.1120C>T (p.Arg374Cys)
|
rs757166963
|
0.00002
|
|
NM_001613.4(ACTA2):c.1131C>T (p.Phe377=)
|
rs1062399
|
0.00002
|
|
NM_001613.4(ACTA2):c.129+5G>A
|
rs373402293
|
0.00002
|
|
NM_001613.4(ACTA2):c.246C>T (p.Asp82=)
|
rs1254836237
|
0.00002
|
|
NM_001613.4(ACTA2):c.401T>C (p.Met134Thr)
|
rs181698127
|
0.00002
|
|
NM_001613.4(ACTA2):c.729G>A (p.Glu243=)
|
rs768077621
|
0.00002
|
|
NM_001613.4(ACTA2):c.72T>C (p.Ala24=)
|
rs773996169
|
0.00002
|
|
NM_001613.4(ACTA2):c.960G>A (p.Thr320=)
|
rs752425336
|
0.00002
|
|
NM_001943.5(DSG2):c.1195G>A (p.Glu399Lys)
|
rs774863785
|
0.00002
|
|
NM_001943.5(DSG2):c.1392A>G (p.Thr464=)
|
rs373918593
|
0.00002
|
|
NM_001943.5(DSG2):c.1480G>A (p.Asp494Asn)
|
rs747248279
|
0.00002
|
|
NM_001943.5(DSG2):c.1503G>T (p.Glu501Asp)
|
rs1191142951
|
0.00002
|
|
NM_001943.5(DSG2):c.1914A>G (p.Gly638=)
|
rs200395484
|
0.00002
|
|
NM_001943.5(DSG2):c.1967C>A (p.Pro656His)
|
rs1288233995
|
0.00002
|
|
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met)
|
rs200137091
|
0.00002
|
|
NM_001943.5(DSG2):c.2165G>A (p.Arg722Lys)
|
rs376819371
|
0.00002
|
|
NM_001943.5(DSG2):c.2179G>A (p.Gly727Ser)
|
rs755555966
|
0.00002
|
|
NM_001943.5(DSG2):c.2212G>A (p.Ala738Thr)
|
rs397516705
|
0.00002
|
|
NM_001943.5(DSG2):c.2269A>T (p.Met757Leu)
|
rs750010743
|
0.00002
|
|
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val)
|
rs547406532
|
0.00002
|
|
NM_001943.5(DSG2):c.244G>A (p.Gly82Arg)
|
rs762769555
|
0.00002
|
|
NM_001943.5(DSG2):c.2569C>T (p.Pro857Ser)
|
rs775091459
|
0.00002
|
|
NM_001943.5(DSG2):c.2623A>G (p.Met875Val)
|
rs370316475
|
0.00002
|
|
NM_001943.5(DSG2):c.2833A>G (p.Thr945Ala)
|
rs746297630
|
0.00002
|
|
NM_001943.5(DSG2):c.2853G>A (p.Val951=)
|
rs775759794
|
0.00002
|
|
NM_001943.5(DSG2):c.2996C>T (p.Ser999Leu)
|
rs762717195
|
0.00002
|
|
NM_001943.5(DSG2):c.2997G>A (p.Ser999=)
|
rs763888499
|
0.00002
|
|
NM_001943.5(DSG2):c.3112A>G (p.Ile1038Val)
|
rs774113529
|
0.00002
|
|
NM_001943.5(DSG2):c.3225G>A (p.Thr1075=)
|
rs773954315
|
0.00002
|
|
NM_001943.5(DSG2):c.3291T>C (p.Asn1097=)
|
rs757473850
|
0.00002
|
|
NM_001943.5(DSG2):c.356G>A (p.Arg119Gln)
|
rs532305326
|
0.00002
|
|
NM_001943.5(DSG2):c.527C>T (p.Thr176Ile)
|
rs536617217
|
0.00002
|
|
NM_001943.5(DSG2):c.567C>T (p.Pro189=)
|
rs745574525
|
0.00002
|
|
NM_001943.5(DSG2):c.57C>T (p.Asn19=)
|
rs587780925
|
0.00002
|
|
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys)
|
rs121913012
|
0.00002
|
|
NM_002474.3(MYH11):c.1037T>C (p.Ile346Thr)
|
rs794728675
|
0.00002
|
|
NM_002474.3(MYH11):c.1077C>T (p.Ile359=)
|
rs763238555
|
0.00002
|
|
NM_002474.3(MYH11):c.1130-13T>C
|
rs752403056
|
0.00002
|
|
NM_002474.3(MYH11):c.1178C>T (p.Thr393Ile)
|
rs750691973
|
0.00002
|
|
NM_002474.3(MYH11):c.1185C>G (p.Ser395=)
|
rs377660115
|
0.00002
|
|
NM_002474.3(MYH11):c.1300C>T (p.Arg434Cys)
|
rs375276152
|
0.00002
|
|
NM_002474.3(MYH11):c.1311C>T (p.Leu437=)
|
rs750121905
|
0.00002
|
|
NM_002474.3(MYH11):c.1402-13G>A
|
rs201713082
|
0.00002
|
|
NM_002474.3(MYH11):c.1413C>T (p.Phe471=)
|
rs758885290
|
0.00002
|
|
NM_002474.3(MYH11):c.1689C>T (p.Phe563=)
|
rs201401918
|
0.00002
|
|
NM_002474.3(MYH11):c.1719T>C (p.Thr573=)
|
rs759846780
|
0.00002
|
|
NM_002474.3(MYH11):c.1749+3A>G
|
rs762212339
|
0.00002
|
|
NM_002474.3(MYH11):c.1815C>A (p.Ser605=)
|
rs1157469426
|
0.00002
|
|
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)
|
rs563865467
|
0.00002
|
|
NM_002474.3(MYH11):c.2001G>A (p.Thr667=)
|
rs541451054
|
0.00002
|
|
NM_002474.3(MYH11):c.200A>G (p.Lys67Arg)
|
rs777426396
|
0.00002
|
|
NM_002474.3(MYH11):c.2010C>T (p.Asn670=)
|
rs774336703
|
0.00002
|
|
NM_002474.3(MYH11):c.2062G>A (p.Gly688Ser)
|
rs760793367
|
0.00002
|
|
NM_002474.3(MYH11):c.2112G>A (p.Val704=)
|
rs781085663
|
0.00002
|
|
NM_002474.3(MYH11):c.2139G>C (p.Gln713His)
|
rs779897931
|
0.00002
|
|
NM_002474.3(MYH11):c.2198C>T (p.Ala733Val)
|
rs776356937
|
0.00002
|
|
NM_002474.3(MYH11):c.2361C>T (p.Thr787=)
|
rs763003023
|
0.00002
|
|
NM_002474.3(MYH11):c.2443G>A (p.Ala815Thr)
|
rs774279707
|
0.00002
|
|
NM_002474.3(MYH11):c.2886G>A (p.Glu962=)
|
rs764759988
|
0.00002
|
|
NM_002474.3(MYH11):c.3036G>A (p.Thr1012=)
|
rs1409053471
|
0.00002
|
|
NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln)
|
rs771297865
|
0.00002
|
|
NM_002474.3(MYH11):c.3149G>A (p.Arg1050Gln)
|
rs367605434
|
0.00002
|
|
NM_002474.3(MYH11):c.3168G>A (p.Leu1056=)
|
rs113089286
|
0.00002
|
|
NM_002474.3(MYH11):c.3214G>A (p.Ala1072Thr)
|
rs759155353
|
0.00002
|
|
NM_002474.3(MYH11):c.3262A>G (p.Lys1088Glu)
|
rs375643160
|
0.00002
|
|
NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val)
|
rs534384552
|
0.00002
|
|
NM_002474.3(MYH11):c.3326C>A (p.Ala1109Asp)
|
rs1046453819
|
0.00002
|
|
NM_002474.3(MYH11):c.3340C>T (p.Arg1114Trp)
|
rs202004234
|
0.00002
|
|
NM_002474.3(MYH11):c.3342G>C (p.Arg1114=)
|
rs781053281
|
0.00002
|
|
NM_002474.3(MYH11):c.33G>T (p.Glu11Asp)
|
rs148562366
|
0.00002
|
|
NM_002474.3(MYH11):c.3615G>A (p.Val1205=)
|
rs778427580
|
0.00002
|
|
NM_002474.3(MYH11):c.3652-10_3652-9insT
|
rs773590187
|
0.00002
|
|
NM_002474.3(MYH11):c.3660G>A (p.Ala1220=)
|
rs1031958083
|
0.00002
|
|
NM_002474.3(MYH11):c.3964-13A>G
|
rs1391587565
|
0.00002
|
|
NM_002474.3(MYH11):c.4011G>C (p.Lys1337Asn)
|
rs778284314
|
0.00002
|
|
NM_002474.3(MYH11):c.4016G>A (p.Arg1339His)
|
rs374271463
|
0.00002
|
|
NM_002474.3(MYH11):c.4059C>T (p.Asp1353=)
|
rs753575083
|
0.00002
|
|
NM_002474.3(MYH11):c.4123G>A (p.Asp1375Asn)
|
rs143467011
|
0.00002
|
|
NM_002474.3(MYH11):c.4128G>A (p.Ser1376=)
|
rs367595632
|
0.00002
|
|
NM_002474.3(MYH11):c.4159G>A (p.Val1387Met)
|
rs773946923
|
0.00002
|
|
NM_002474.3(MYH11):c.415G>A (p.Val139Ile)
|
rs745609580
|
0.00002
|
|
NM_002474.3(MYH11):c.4187G>A (p.Arg1396Lys)
|
rs755794886
|
0.00002
|
|
NM_002474.3(MYH11):c.4191C>A (p.Phe1397Leu)
|
rs1433018488
|
0.00002
|
|
NM_002474.3(MYH11):c.4224C>T (p.Tyr1408=)
|
rs1346896885
|
0.00002
|
|
NM_002474.3(MYH11):c.45T>C (p.Phe15=)
|
rs1042574548
|
0.00002
|
|
NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu)
|
rs151101824
|
0.00002
|
|
NM_002474.3(MYH11):c.4786A>C (p.Arg1596=)
|
rs754931029
|
0.00002
|
|
NM_002474.3(MYH11):c.4798G>A (p.Glu1600Lys)
|
rs761463510
|
0.00002
|
|
NM_002474.3(MYH11):c.4834C>T (p.Arg1612Cys)
|
rs748356212
|
0.00002
|
|
NM_002474.3(MYH11):c.487C>T (p.Arg163Trp)
|
rs759409339
|
0.00002
|
|
NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys)
|
rs369409348
|
0.00002
|
|
NM_002474.3(MYH11):c.4974A>G (p.Gln1658=)
|
rs762733113
|
0.00002
|
|
NM_002474.3(MYH11):c.4993C>T (p.Arg1665Cys)
|
rs768569707
|
0.00002
|
|
NM_002474.3(MYH11):c.506G>A (p.Arg169Gln)
|
rs539539812
|
0.00002
|
|
NM_002474.3(MYH11):c.5128A>G (p.Lys1710Glu)
|
rs566447086
|
0.00002
|
|
NM_002474.3(MYH11):c.5161C>A (p.Leu1721Met)
|
rs571517980
|
0.00002
|
|
NM_002474.3(MYH11):c.5165C>T (p.Ser1722Leu)
|
rs756025504
|
0.00002
|
|
NM_002474.3(MYH11):c.5175C>T (p.Asn1725=)
|
rs753293134
|
0.00002
|
|
NM_002474.3(MYH11):c.5256G>A (p.Met1752Ile)
|
rs777832499
|
0.00002
|
|
NM_002474.3(MYH11):c.5260G>A (p.Ala1754Thr)
|
rs1402732324
|
0.00002
|
|
NM_002474.3(MYH11):c.5296-3C>G
|
rs370866058
|
0.00002
|
|
NM_002474.3(MYH11):c.5298C>T (p.Ala1766=)
|
rs753482794
|
0.00002
|
|
NM_002474.3(MYH11):c.5317C>T (p.Leu1773=)
|
rs767453646
|
0.00002
|
|
NM_002474.3(MYH11):c.5375G>A (p.Arg1792Gln)
|
rs751495086
|
0.00002
|
|
NM_002474.3(MYH11):c.5443A>G (p.Thr1815Ala)
|
rs764219360
|
0.00002
|
|
NM_002474.3(MYH11):c.5584C>T (p.Arg1862Cys)
|
rs757542362
|
0.00002
|
|
NM_002474.3(MYH11):c.5614G>A (p.Ala1872Thr)
|
rs1355377006
|
0.00002
|
|
NM_002474.3(MYH11):c.5714G>A (p.Arg1905Gln)
|
rs1443593366
|
0.00002
|
|
NM_002474.3(MYH11):c.5758G>A (p.Glu1920Lys)
|
rs757099566
|
0.00002
|
|
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=)
|
rs774511118
|
0.00002
|
|
NM_002474.3(MYH11):c.5789G>A (p.Arg1930Gln)
|
rs769356338
|
0.00002
|
|
NM_002474.3(MYH11):c.5823G>A (p.Arg1941=)
|
rs764375446
|
0.00002
|
|
NM_002474.3(MYH11):c.5C>T (p.Ala2Val)
|
rs150600829
|
0.00002
|
|
NM_002474.3(MYH11):c.632C>T (p.Thr211Met)
|
rs557865832
|
0.00002
|
|
NM_002474.3(MYH11):c.63C>T (p.Ile21=)
|
rs755935176
|
0.00002
|
|
NM_002474.3(MYH11):c.726C>T (p.Phe242=)
|
rs375302438
|
0.00002
|
|
NM_002474.3(MYH11):c.750C>T (p.Phe250=)
|
rs746765174
|
0.00002
|
|
NM_002474.3(MYH11):c.791-12C>T
|
rs188298124
|
0.00002
|
|
NM_002474.3(MYH11):c.988G>A (p.Val330Met)
|
rs368938309
|
0.00002
|
|
NM_003242.6(TGFBR2):c.1043G>A (p.Arg348His)
|
rs369450067
|
0.00002
|
|
NM_003242.6(TGFBR2):c.1048C>T (p.Leu350=)
|
rs755843367
|
0.00002
|
|
NM_003242.6(TGFBR2):c.1158C>T (p.Leu386=)
|
rs757158964
|
0.00002
|
|
NM_003242.6(TGFBR2):c.1407T>C (p.Asp469=)
|
rs573025864
|
0.00002
|
|
NM_003242.6(TGFBR2):c.1459A>C (p.Met487Leu)
|
rs767120937
|
0.00002
|
|
NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys)
|
rs766473954
|
0.00002
|
|
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=)
|
rs756625146
|
0.00002
|
|
NM_004415.4(DSP):c.104G>C (p.Gly35Ala)
|
rs202194206
|
0.00002
|
|
NM_004415.4(DSP):c.1068G>A (p.Thr356=)
|
rs766094745
|
0.00002
|
|
NM_004415.4(DSP):c.1149A>G (p.Glu383=)
|
rs572980966
|
0.00002
|
|
NM_004415.4(DSP):c.1191C>T (p.Asp397=)
|
rs1046392713
|
0.00002
|
|
NM_004415.4(DSP):c.1215C>T (p.Cys405=)
|
rs377500825
|
0.00002
|
|
NM_004415.4(DSP):c.130C>T (p.Arg44Trp)
|
rs1255744065
|
0.00002
|
|
NM_004415.4(DSP):c.1349C>T (p.Pro450Leu)
|
rs756357907
|
0.00002
|
|
NM_004415.4(DSP):c.1419+5G>C
|
rs1004508873
|
0.00002
|
|
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)
|
rs761051181
|
0.00002
|
|
NM_004415.4(DSP):c.1677G>A (p.Lys559=)
|
rs143356115
|
0.00002
|
|
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)
|
rs372467697
|
0.00002
|
|
NM_004415.4(DSP):c.1903+4G>A
|
rs757726608
|
0.00002
|
|
NM_004415.4(DSP):c.2000G>C (p.Trp667Ser)
|
rs760214732
|
0.00002
|
|
NM_004415.4(DSP):c.2027G>A (p.Arg676His)
|
rs777782794
|
0.00002
|
|
NM_004415.4(DSP):c.2184T>A (p.Asp728Glu)
|
rs750383681
|
0.00002
|
|
NM_004415.4(DSP):c.2275G>A (p.Val759Ile)
|
rs745544854
|
0.00002
|
|
NM_004415.4(DSP):c.2329A>G (p.Ile777Val)
|
rs755860619
|
0.00002
|
|
NM_004415.4(DSP):c.2364A>G (p.Glu788=)
|
rs1397865751
|
0.00002
|
|
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu)
|
rs774638728
|
0.00002
|
|
NM_004415.4(DSP):c.2568C>T (p.Phe856=)
|
rs746036365
|
0.00002
|
|
NM_004415.4(DSP):c.2675G>A (p.Arg892His)
|
rs758592774
|
0.00002
|
|
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)
|
rs749051278
|
0.00002
|
|
NM_004415.4(DSP):c.274-4T>G
|
rs755025350
|
0.00002
|
|
NM_004415.4(DSP):c.2771T>C (p.Met924Thr)
|
rs752816142
|
0.00002
|
|
NM_004415.4(DSP):c.2861G>A (p.Cys954Tyr)
|
rs779878192
|
0.00002
|
|
NM_004415.4(DSP):c.3147G>A (p.Ser1049=)
|
rs756341143
|
0.00002
|
|
NM_004415.4(DSP):c.3243G>A (p.Glu1081=)
|
rs761399419
|
0.00002
|
|
NM_004415.4(DSP):c.3282G>A (p.Lys1094=)
|
rs2491080
|
0.00002
|
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
|
NM_004415.4(DSP):c.3388G>A (p.Asp1130Asn)
|
rs765769174
|
0.00002
|
|
NM_004415.4(DSP):c.3729A>G (p.Ser1243=)
|
rs150241609
|
0.00002
|
|
NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys)
|
rs1262533485
|
0.00002
|
|
NM_004415.4(DSP):c.3766C>T (p.Leu1256Phe)
|
rs775080202
|
0.00002
|
|
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu)
|
rs748733750
|
0.00002
|
|
NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln)
|
rs759698959
|
0.00002
|
|
NM_004415.4(DSP):c.3835G>A (p.Ala1279Thr)
|
rs763915365
|
0.00002
|
|
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val)
|
rs376555665
|
0.00002
|
|
NM_004415.4(DSP):c.3912G>C (p.Glu1304Asp)
|
rs764189408
|
0.00002
|
|
NM_004415.4(DSP):c.4005G>A (p.Gln1335=)
|
rs775720924
|
0.00002
|
|
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)
|
rs771721410
|
0.00002
|
|
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg)
|
rs746782582
|
0.00002
|
|
NM_004415.4(DSP):c.4471G>A (p.Asp1491Asn)
|
rs768402359
|
0.00002
|
|
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)
|
rs760433367
|
0.00002
|
|
NM_004415.4(DSP):c.449G>A (p.Arg150Gln)
|
rs587782940
|
0.00002
|
|
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val)
|
rs375919492
|
0.00002
|
|
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met)
|
rs375150075
|
0.00002
|
|
NM_004415.4(DSP):c.4610G>A (p.Arg1537His)
|
rs762135558
|
0.00002
|
|
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn)
|
rs730880084
|
0.00002
|
|
NM_004415.4(DSP):c.467T>A (p.Ile156Asn)
|
rs767692014
|
0.00002
|
|
NM_004415.4(DSP):c.4767C>T (p.Cys1589=)
|
rs763203149
|
0.00002
|
|
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro)
|
rs749679496
|
0.00002
|
|
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile)
|
rs200243976
|
0.00002
|
|
NM_004415.4(DSP):c.5084G>A (p.Ser1695Asn)
|
rs758637843
|
0.00002
|
|
NM_004415.4(DSP):c.517A>T (p.Thr173Ser)
|
rs1372912970
|
0.00002
|
|
NM_004415.4(DSP):c.5183G>A (p.Arg1728Lys)
|
rs750854585
|
0.00002
|
|
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=)
|
rs201663619
|
0.00002
|
|
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
|
rs34738426
|
0.00002
|
|
NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr)
|
rs764279057
|
0.00002
|
|
NM_004415.4(DSP):c.5610A>G (p.Gln1870=)
|
rs777420903
|
0.00002
|
|
NM_004415.4(DSP):c.5913G>T (p.Leu1971=)
|
rs373416071
|
0.00002
|
|
NM_004415.4(DSP):c.5932A>G (p.Met1978Val)
|
rs770077556
|
0.00002
|
|
NM_004415.4(DSP):c.6054C>T (p.Ile2018=)
|
rs369700204
|
0.00002
|
|
NM_004415.4(DSP):c.6100G>A (p.Ala2034Thr)
|
rs1043978096
|
0.00002
|
|
NM_004415.4(DSP):c.6223C>T (p.Arg2075Trp)
|
rs751050235
|
0.00002
|
|
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly)
|
rs755069593
|
0.00002
|
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
|
NM_004415.4(DSP):c.6451C>T (p.Arg2151Trp)
|
rs181608152
|
0.00002
|
|
NM_004415.4(DSP):c.6464A>G (p.Asp2155Gly)
|
rs752740718
|
0.00002
|
|
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe)
|
rs1581822548
|
0.00002
|
|
NM_004415.4(DSP):c.6516T>C (p.Phe2172=)
|
rs1266595950
|
0.00002
|
|
NM_004415.4(DSP):c.6597C>T (p.Leu2199=)
|
rs567782337
|
0.00002
|
|
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
|
rs397516953
|
0.00002
|
|
NM_004415.4(DSP):c.668G>A (p.Gly223Asp)
|
rs199509943
|
0.00002
|
|
NM_004415.4(DSP):c.6690G>A (p.Pro2230=)
|
rs145751089
|
0.00002
|
|
NM_004415.4(DSP):c.6732C>T (p.Asp2244=)
|
rs764124433
|
0.00002
|
|
NM_004415.4(DSP):c.7116C>T (p.Ile2372=)
|
rs185213858
|
0.00002
|
|
NM_004415.4(DSP):c.7117G>A (p.Ala2373Thr)
|
rs373965771
|
0.00002
|
|
NM_004415.4(DSP):c.7185C>T (p.Gly2395=)
|
rs1296848321
|
0.00002
|
|
NM_004415.4(DSP):c.7197G>A (p.Glu2399=)
|
rs372594837
|
0.00002
|
|
NM_004415.4(DSP):c.7200A>C (p.Glu2400Asp)
|
rs1209240894
|
0.00002
|
|
NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly)
|
rs794728132
|
0.00002
|
|
NM_004415.4(DSP):c.7575C>T (p.Gly2525=)
|
rs780156504
|
0.00002
|
|
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)
|
rs142078450
|
0.00002
|
|
NM_004415.4(DSP):c.7836C>T (p.Thr2612=)
|
rs762381028
|
0.00002
|
|
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)
|
rs147484870
|
0.00002
|
|
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)
|
rs869025397
|
0.00002
|
|
NM_004415.4(DSP):c.8042A>C (p.Asp2681Ala)
|
rs746166372
|
0.00002
|
|
NM_004415.4(DSP):c.8044C>G (p.Gln2682Glu)
|
rs772365921
|
0.00002
|
|
NM_004415.4(DSP):c.8233A>G (p.Ile2745Val)
|
rs747284663
|
0.00002
|
|
NM_004415.4(DSP):c.8256G>A (p.Arg2752=)
|
rs1313648350
|
0.00002
|
|
NM_004415.4(DSP):c.8279C>T (p.Ala2760Val)
|
rs774309765
|
0.00002
|
|
NM_004415.4(DSP):c.8394T>A (p.Thr2798=)
|
rs775346694
|
0.00002
|
|
NM_004415.4(DSP):c.8402G>A (p.Arg2801His)
|
rs763712887
|
0.00002
|
|
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly)
|
rs397516972
|
0.00002
|
|
NM_004612.4(TGFBR1):c.1275A>G (p.Gln425=)
|
rs753301297
|
0.00002
|
|
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)
|
rs766157497
|
0.00002
|
|
NM_004612.4(TGFBR1):c.292A>T (p.Thr98Ser)
|
rs780295872
|
0.00002
|
|
NM_004612.4(TGFBR1):c.343+3A>G
|
rs374717754
|
0.00002
|
|
NM_004612.4(TGFBR1):c.495A>G (p.Ser165=)
|
rs753147276
|
0.00002
|
|
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=)
|
rs140245968
|
0.00002
|
|
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val)
|
rs200018073
|
0.00002
|
|
NM_005159.5(ACTC1):c.*5C>G
|
rs756594449
|
0.00002
|
|
NM_005159.5(ACTC1):c.19A>T (p.Thr7Ser)
|
rs746748461
|
0.00002
|
|
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val)
|
rs750951965
|
0.00002
|
|
NM_005159.5(ACTC1):c.333G>A (p.Pro111=)
|
rs774767260
|
0.00002
|
|
NM_005159.5(ACTC1):c.405C>T (p.Tyr135=)
|
rs181479041
|
0.00002
|
|
NM_005159.5(ACTC1):c.456C>T (p.Gly152=)
|
rs771310484
|
0.00002
|
|
NM_005159.5(ACTC1):c.809-8G>A
|
rs767180775
|
0.00002
|
|
NM_005159.5(ACTC1):c.903A>G (p.Leu301=)
|
rs138347995
|
0.00002
|
|
NM_005159.5(ACTC1):c.991-13T>C
|
rs1375741970
|
0.00002
|
|
NM_005902.4(SMAD3):c.-1C>T
|
rs770457783
|
0.00002
|
|
NM_005902.4(SMAD3):c.102G>T (p.Ala34=)
|
rs748990258
|
0.00002
|
|
NM_005902.4(SMAD3):c.1065G>A (p.Ser355=)
|
rs756181827
|
0.00002
|
|
NM_005902.4(SMAD3):c.1145C>T (p.Ala382Val)
|
rs779602560
|
0.00002
|
|
NM_005902.4(SMAD3):c.1146G>A (p.Ala382=)
|
rs746494089
|
0.00002
|
|
NM_005902.4(SMAD3):c.210C>T (p.Ser70=)
|
rs1224939970
|
0.00002
|
|
NM_005902.4(SMAD3):c.334G>A (p.Ala112Thr)
|
rs770798158
|
0.00002
|
|
NM_005902.4(SMAD3):c.372C>A (p.Pro124=)
|
rs765624013
|
0.00002
|
|
NM_005902.4(SMAD3):c.400+5G>T
|
rs766829176
|
0.00002
|
|
NM_005902.4(SMAD3):c.608-4G>A
|
rs372064378
|
0.00002
|
|
NM_005902.4(SMAD3):c.665A>G (p.Gln222Arg)
|
rs755924969
|
0.00002
|
|
NM_005902.4(SMAD3):c.730G>A (p.Val244Ile)
|
rs773543026
|
0.00002
|
|
NM_005902.4(SMAD3):c.738G>A (p.Glu246=)
|
rs771037017
|
0.00002
|
|
NM_005902.4(SMAD3):c.753G>A (p.Ser251=)
|
rs975704644
|
0.00002
|
|
NM_005902.4(SMAD3):c.897C>T (p.Ile299=)
|
rs773943578
|
0.00002
|
|
NM_005902.4(SMAD3):c.912C>T (p.Phe304=)
|
rs759140708
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1051+3A>G
|
rs376499470
|
0.00002
|
|
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr)
|
rs377603922
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1107-7C>T
|
rs775881497
|
0.00002
|
|
NM_016203.4(PRKAG2):c.113C>T (p.Pro38Leu)
|
rs984007665
|
0.00002
|
|
NM_016203.4(PRKAG2):c.129C>T (p.Phe43=)
|
rs770946241
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1364G>A (p.Arg455Lys)
|
rs747840565
|
0.00002
|
|
NM_016203.4(PRKAG2):c.137C>A (p.Pro46Gln)
|
rs373477232
|
0.00002
|
|
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)
|
rs767613486
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile)
|
rs778668093
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1438-9T>C
|
rs771451875
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1705G>C (p.Glu569Gln)
|
rs730880983
|
0.00002
|
|
NM_016203.4(PRKAG2):c.181C>T (p.Arg61Ter)
|
rs770100112
|
0.00002
|
|
NM_016203.4(PRKAG2):c.201C>T (p.Phe67=)
|
rs759893229
|
0.00002
|
|
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln)
|
rs142808871
|
0.00002
|
|
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu)
|
rs150140412
|
0.00002
|
|
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=)
|
rs764742900
|
0.00002
|
|
NM_016203.4(PRKAG2):c.454C>T (p.Arg152Cys)
|
rs752783859
|
0.00002
|
|
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln)
|
rs145006140
|
0.00002
|
|
NM_016203.4(PRKAG2):c.642G>C (p.Arg214Ser)
|
rs757556996
|
0.00002
|
|
NM_016203.4(PRKAG2):c.685-5C>A
|
rs779931367
|
0.00002
|
|
NM_024334.3(TMEM43):c.1022G>A (p.Arg341Gln)
|
rs749727938
|
0.00002
|
|
NM_024334.3(TMEM43):c.1059C>G (p.Phe353Leu)
|
rs730880227
|
0.00002
|
|
NM_024334.3(TMEM43):c.1140C>T (p.Ala380=)
|
rs1055842863
|
0.00002
|
|
NM_024334.3(TMEM43):c.1172G>A (p.Arg391Gln)
|
rs757742631
|
0.00002
|
|
NM_024334.3(TMEM43):c.179C>T (p.Thr60Met)
|
rs1362645227
|
0.00002
|
|
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp)
|
rs201085402
|
0.00002
|
|
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)
|
rs182351748
|
0.00002
|
|
NM_024334.3(TMEM43):c.32G>A (p.Arg11Gln)
|
rs568179990
|
0.00002
|
|
NM_024334.3(TMEM43):c.475A>G (p.Lys159Glu)
|
rs1269566290
|
0.00002
|
|
NM_024334.3(TMEM43):c.600C>T (p.Val200=)
|
rs760323011
|
0.00002
|
|
NM_024334.3(TMEM43):c.601G>A (p.Asp201Asn)
|
rs138182276
|
0.00002
|
|
NM_024334.3(TMEM43):c.705+6C>T
|
rs185025731
|
0.00002
|
|
NM_024334.3(TMEM43):c.719G>A (p.Arg240His)
|
rs758817244
|
0.00002
|
|
NM_024334.3(TMEM43):c.747C>T (p.Ser249=)
|
rs549809535
|
0.00002
|
|
NM_024334.3(TMEM43):c.778G>A (p.Val260Met)
|
rs758872772
|
0.00002
|
|
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser)
|
rs532872056
|
0.00002
|
|
NM_024334.3(TMEM43):c.888G>A (p.Val296=)
|
rs763995800
|
0.00002
|
|
NM_024334.3(TMEM43):c.98C>T (p.Ser33Leu)
|
rs539753097
|
0.00002
|
|
NM_024422.6(DSC2):c.1033A>G (p.Ile345Val)
|
rs1177194145
|
0.00002
|
|
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu)
|
rs560482778
|
0.00002
|
|
NM_024422.6(DSC2):c.1401G>A (p.Glu467=)
|
rs977781359
|
0.00002
|
|
NM_024422.6(DSC2):c.1438A>G (p.Met480Val)
|
rs370616107
|
0.00002
|
|
NM_024422.6(DSC2):c.1456G>A (p.Val486Met)
|
rs188634770
|
0.00002
|
|
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp)
|
rs397517391
|
0.00002
|
|
NM_024422.6(DSC2):c.1680G>A (p.Thr560=)
|
rs567202599
|
0.00002
|
|
NM_024422.6(DSC2):c.1846A>G (p.Thr616Ala)
|
rs753887142
|
0.00002
|
|
NM_024422.6(DSC2):c.1862G>T (p.Arg621Ile)
|
rs1225904818
|
0.00002
|
|
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter)
|
rs397517395
|
0.00002
|
|
NM_024422.6(DSC2):c.2031C>T (p.Cys677=)
|
rs754488475
|
0.00002
|
|
NM_024422.6(DSC2):c.20C>T (p.Ser7Phe)
|
rs1227564823
|
0.00002
|
|
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met)
|
rs180863872
|
0.00002
|
|
NM_024422.6(DSC2):c.2163G>A (p.Thr721=)
|
rs773220437
|
0.00002
|
|
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr)
|
rs777004957
|
0.00002
|
|
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu)
|
rs1617629
|
0.00002
|
|
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp)
|
rs201548399
|
0.00002
|
|
NM_024422.6(DSC2):c.2442G>A (p.Thr814=)
|
rs750971227
|
0.00002
|
|
NM_024422.6(DSC2):c.2509-95C>T
|
rs781646028
|
0.00002
|
|
NM_024422.6(DSC2):c.2571T>C (p.Tyr857=)
|
rs370144781
|
0.00002
|
|
NM_024422.6(DSC2):c.324A>G (p.Lys108=)
|
rs779651366
|
0.00002
|
|
NM_024422.6(DSC2):c.360A>G (p.Leu120=)
|
rs375772629
|
0.00002
|
|
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys)
|
rs727504578
|
0.00002
|
|
NM_024422.6(DSC2):c.489G>A (p.Thr163=)
|
rs752952811
|
0.00002
|
|
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg)
|
rs750961818
|
0.00002
|
|
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro)
|
rs149848359
|
0.00002
|
|
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser)
|
rs200802591
|
0.00002
|
|
NM_024422.6(DSC2):c.874C>T (p.Pro292Ser)
|
rs767340313
|
0.00002
|
|
NM_024422.6(DSC2):c.898A>G (p.Thr300Ala)
|
rs531245154
|
0.00002
|
|
NM_024422.6(DSC2):c.943-1G>A
|
rs796756333
|
0.00002
|
|
NM_024422.6(DSC2):c.965A>G (p.Lys322Arg)
|
rs1157312147
|
0.00002
|
|
NM_024422.6(DSC2):c.977A>C (p.Gln326Pro)
|
rs397517409
|
0.00002
|
|
NM_170707.4(LMNA):c.-1C>A
|
rs886043355
|
0.00002
|
|
NM_170707.4(LMNA):c.1047G>A (p.Arg349=)
|
rs147015659
|
0.00002
|
|
NM_170707.4(LMNA):c.1071C>T (p.Asp357=)
|
rs376875762
|
0.00002
|
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
|
NM_170707.4(LMNA):c.1157+6C>G
|
rs374768416
|
0.00002
|
|
NM_170707.4(LMNA):c.1158-12C>G
|
rs372934817
|
0.00002
|
|
NM_170707.4(LMNA):c.1185G>A (p.Ser395=)
|
rs397517890
|
0.00002
|
|
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu)
|
rs61693978
|
0.00002
|
|
NM_170707.4(LMNA):c.1190G>A (p.Arg397His)
|
rs747952058
|
0.00002
|
|
NM_170707.4(LMNA):c.1236G>C (p.Gly412=)
|
rs763537103
|
0.00002
|
|
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)
|
rs373584456
|
0.00002
|
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
0.00002
|
|
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)
|
rs59601651
|
0.00002
|
|
NM_170707.4(LMNA):c.1755C>T (p.Thr585=)
|
rs545752475
|
0.00002
|
|
NM_170707.4(LMNA):c.1857T>C (p.Ser619=)
|
rs368581237
|
0.00002
|
|
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys)
|
rs777841827
|
0.00002
|
|
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)
|
rs1060502216
|
0.00002
|
|
NM_170707.4(LMNA):c.364A>G (p.Lys122Glu)
|
rs1222398892
|
0.00002
|
|
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)
|
rs766856162
|
0.00002
|
|
NM_170707.4(LMNA):c.579T>C (p.Ala193=)
|
rs749728556
|
0.00002
|
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
0.00002
|
|
NM_170707.4(LMNA):c.658C>T (p.Arg220Cys)
|
rs370134870
|
0.00002
|
|
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu)
|
rs61578124
|
0.00002
|
|
NM_170707.4(LMNA):c.867C>T (p.His289=)
|
rs780415585
|
0.00002
|
|
NM_170707.4(LMNA):c.884C>T (p.Ser295Leu)
|
rs769210828
|
0.00002
|
|
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys)
|
rs375987939
|
0.00002
|
|
NM_170707.4(LMNA):c.937-9C>T
|
rs1332011298
|
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_000090.4(COL3A1):c.-10A>G
|
rs41272793
|
0.00001
|
|
NM_000090.4(COL3A1):c.101A>G (p.His34Arg)
|
rs752110396
|
0.00001
|
|
NM_000090.4(COL3A1):c.1050+7_1050+8del
|
rs759415640
|
0.00001
|
|
NM_000090.4(COL3A1):c.1109A>G (p.Glu370Gly)
|
rs748323501
|
0.00001
|
|
NM_000090.4(COL3A1):c.1129G>A (p.Ala377Thr)
|
rs1248348633
|
0.00001
|
|
NM_000090.4(COL3A1):c.1149+3A>G
|
rs1466133249
|
0.00001
|
|
NM_000090.4(COL3A1):c.1150-4T>G
|
rs756350810
|
0.00001
|
|
NM_000090.4(COL3A1):c.1189G>A (p.Glu397Lys)
|
rs187907868
|
0.00001
|
|
NM_000090.4(COL3A1):c.118G>A (p.Ala40Thr)
|
rs763720540
|
0.00001
|
|
NM_000090.4(COL3A1):c.1197T>C (p.Gly399=)
|
rs892020201
|
0.00001
|
|
NM_000090.4(COL3A1):c.1200C>T (p.Pro400=)
|
rs557759394
|
0.00001
|
|
NM_000090.4(COL3A1):c.1201G>A (p.Ala401Thr)
|
rs373858715
|
0.00001
|
|
NM_000090.4(COL3A1):c.1207A>G (p.Ile403Val)
|
rs1372036761
|
0.00001
|
|
NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr)
|
rs794728035
|
0.00001
|
|
NM_000090.4(COL3A1):c.1294-8T>C
|
rs1226243055
|
0.00001
|
|
NM_000090.4(COL3A1):c.1307A>G (p.Lys436Arg)
|
rs751471411
|
0.00001
|
|
NM_000090.4(COL3A1):c.1333C>T (p.Pro445Ser)
|
rs1688260053
|
0.00001
|
|
NM_000090.4(COL3A1):c.1338T>A (p.Arg446=)
|
rs1553507953
|
0.00001
|
|
NM_000090.4(COL3A1):c.1346G>A (p.Arg449His)
|
rs888082655
|
0.00001
|
|
NM_000090.4(COL3A1):c.1378G>A (p.Ala460Thr)
|
rs745315358
|
0.00001
|
|
NM_000090.4(COL3A1):c.13G>A (p.Val5Met)
|
rs1461198652
|
0.00001
|
|
NM_000090.4(COL3A1):c.1408C>T (p.Pro470Ser)
|
rs748530632
|
0.00001
|
|
NM_000090.4(COL3A1):c.1431G>A (p.Gly477=)
|
rs368765585
|
0.00001
|
|
NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro)
|
rs374532173
|
0.00001
|
|
NM_000090.4(COL3A1):c.1480G>A (p.Ala494Thr)
|
rs200866608
|
0.00001
|
|
NM_000090.4(COL3A1):c.1496T>C (p.Ile499Thr)
|
rs1001748912
|
0.00001
|
|
NM_000090.4(COL3A1):c.1513C>T (p.Pro505Ser)
|
rs776430998
|
0.00001
|
|
NM_000090.4(COL3A1):c.1524G>A (p.Glu508=)
|
rs761742677
|
0.00001
|
|
NM_000090.4(COL3A1):c.1545A>G (p.Ala515=)
|
rs1250297410
|
0.00001
|
|
NM_000090.4(COL3A1):c.1558G>A (p.Ala520Thr)
|
rs1410374684
|
0.00001
|
|
NM_000090.4(COL3A1):c.1609-11C>A
|
rs1474506962
|
0.00001
|
|
NM_000090.4(COL3A1):c.1609-5T>C
|
rs766119542
|
0.00001
|
|
NM_000090.4(COL3A1):c.1642G>A (p.Asp548Asn)
|
rs1293397335
|
0.00001
|
|
NM_000090.4(COL3A1):c.1657C>T (p.Pro553Ser)
|
rs752163277
|
0.00001
|
|
NM_000090.4(COL3A1):c.1685G>A (p.Arg562Gln)
|
rs774146040
|
0.00001
|
|
NM_000090.4(COL3A1):c.1716A>C (p.Arg572=)
|
rs751916055
|
0.00001
|
|
NM_000090.4(COL3A1):c.1758T>C (p.Asn586=)
|
rs756227982
|
0.00001
|
|
NM_000090.4(COL3A1):c.1761+6T>C
|
rs189483688
|
0.00001
|
|
NM_000090.4(COL3A1):c.1777A>G (p.Asn593Asp)
|
rs1435010100
|
0.00001
|
|
NM_000090.4(COL3A1):c.178G>A (p.Val60Ile)
|
rs762028131
|
0.00001
|
|
NM_000090.4(COL3A1):c.1801G>A (p.Gly601Arg)
|
rs767889802
|
0.00001
|
|
NM_000090.4(COL3A1):c.1813C>G (p.Gln605Glu)
|
rs764299277
|
0.00001
|
|
NM_000090.4(COL3A1):c.1815+4C>T
|
rs757154607
|
0.00001
|
|
NM_000090.4(COL3A1):c.1816-6T>G
|
rs1474453319
|
0.00001
|
|
NM_000090.4(COL3A1):c.1819C>G (p.Pro607Ala)
|
rs376525602
|
0.00001
|
|
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser)
|
rs772638774
|
0.00001
|
|
NM_000090.4(COL3A1):c.1870-14T>C
|
rs201315795
|
0.00001
|
|
NM_000090.4(COL3A1):c.1872G>A (p.Gly624=)
|
rs372901096
|
0.00001
|
|
NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu)
|
rs794728048
|
0.00001
|
|
NM_000090.4(COL3A1):c.1924-4C>T
|
rs755814664
|
0.00001
|
|
NM_000090.4(COL3A1):c.194T>C (p.Ile65Thr)
|
rs1050728178
|
0.00001
|
|
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys)
|
rs189846410
|
0.00001
|
|
NM_000090.4(COL3A1):c.1976C>T (p.Pro659Leu)
|
rs756822808
|
0.00001
|
|
NM_000090.4(COL3A1):c.1978-12C>T
|
rs753526966
|
0.00001
|
|
NM_000090.4(COL3A1):c.1978-13G>A
|
rs763906653
|
0.00001
|
|
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met)
|
rs372269408
|
0.00001
|
|
NM_000090.4(COL3A1):c.2023-15A>G
|
rs764932588
|
0.00001
|
|
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly)
|
rs376603102
|
0.00001
|
|
NM_000090.4(COL3A1):c.2043T>C (p.Gly681=)
|
rs768133491
|
0.00001
|
|
NM_000090.4(COL3A1):c.2047C>T (p.Arg683Cys)
|
rs1254414798
|
0.00001
|
|
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His)
|
rs753162027
|
0.00001
|
|
NM_000090.4(COL3A1):c.204C>T (p.Asp68=)
|
rs368299739
|
0.00001
|
|
NM_000090.4(COL3A1):c.205G>A (p.Asp69Asn)
|
rs112714742
|
0.00001
|
|
NM_000090.4(COL3A1):c.2127T>A (p.Ala709=)
|
rs1436021194
|
0.00001
|
|
NM_000090.4(COL3A1):c.219C>T (p.Asp73=)
|
rs886038228
|
0.00001
|
|
NM_000090.4(COL3A1):c.2220G>A (p.Lys740=)
|
rs541557925
|
0.00001
|
|
NM_000090.4(COL3A1):c.2290A>G (p.Thr764Ala)
|
rs775003113
|
0.00001
|
|
NM_000090.4(COL3A1):c.2310T>G (p.Pro770=)
|
rs1321267556
|
0.00001
|
|
NM_000090.4(COL3A1):c.2461C>A (p.Pro821Thr)
|
rs1296092212
|
0.00001
|
|
NM_000090.4(COL3A1):c.2479A>G (p.Arg827Gly)
|
rs1309388302
|
0.00001
|
|
NM_000090.4(COL3A1):c.2506G>A (p.Gly836Arg)
|
rs1363971558
|
0.00001
|
|
NM_000090.4(COL3A1):c.2530C>T (p.Pro844Ser)
|
rs780490668
|
0.00001
|
|
NM_000090.4(COL3A1):c.2531C>T (p.Pro844Leu)
|
rs943287668
|
0.00001
|
|
NM_000090.4(COL3A1):c.2565T>C (p.Gly855=)
|
rs774245587
|
0.00001
|
|
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)
|
rs376643618
|
0.00001
|
|
NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr)
|
rs761469859
|
0.00001
|
|
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu)
|
rs1455100373
|
0.00001
|
|
NM_000090.4(COL3A1):c.2709G>A (p.Gly903=)
|
rs1057524521
|
0.00001
|
|
NM_000090.4(COL3A1):c.2724G>A (p.Ala908=)
|
rs754015151
|
0.00001
|
|
NM_000090.4(COL3A1):c.2766A>C (p.Pro922=)
|
rs915948354
|
0.00001
|
|
NM_000090.4(COL3A1):c.280G>T (p.Ala94Ser)
|
rs761447734
|
0.00001
|
|
NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu)
|
rs780260944
|
0.00001
|
|
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys)
|
rs768671254
|
0.00001
|
|
NM_000090.4(COL3A1):c.2974C>A (p.Arg992Ser)
|
rs1431359737
|
0.00001
|
|
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala)
|
rs142457159
|
0.00001
|
|
NM_000090.4(COL3A1):c.3040-12T>C
|
rs757034411
|
0.00001
|
|
NM_000090.4(COL3A1):c.3071G>A (p.Arg1024Gln)
|
rs1484867480
|
0.00001
|
|
NM_000090.4(COL3A1):c.3098A>T (p.Asp1033Val)
|
rs1060500206
|
0.00001
|
|
NM_000090.4(COL3A1):c.3101G>A (p.Arg1034His)
|
rs780788248
|
0.00001
|
|
NM_000090.4(COL3A1):c.3102T>C (p.Arg1034=)
|
rs1399453028
|
0.00001
|
|
NM_000090.4(COL3A1):c.3114C>T (p.Gly1038=)
|
rs982248094
|
0.00001
|
|
NM_000090.4(COL3A1):c.3163G>A (p.Val1055Ile)
|
rs747197616
|
0.00001
|
|
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser)
|
rs1223008559
|
0.00001
|
|
NM_000090.4(COL3A1):c.316G>A (p.Gly106Ser)
|
rs180938313
|
0.00001
|
|
NM_000090.4(COL3A1):c.3202-5C>A
|
rs1417576506
|
0.00001
|
|
NM_000090.4(COL3A1):c.3208G>T (p.Ala1070Ser)
|
rs376738516
|
0.00001
|
|
NM_000090.4(COL3A1):c.3224C>T (p.Ala1075Val)
|
rs952989325
|
0.00001
|
|
NM_000090.4(COL3A1):c.3255T>C (p.Pro1085=)
|
rs763604822
|
0.00001
|
|
NM_000090.4(COL3A1):c.3256-13T>C
|
rs753338091
|
0.00001
|
|
NM_000090.4(COL3A1):c.3262C>G (p.Gln1088Glu)
|
rs1328301317
|
0.00001
|
|
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser)
|
rs1464447467
|
0.00001
|
|
NM_000090.4(COL3A1):c.3321A>G (p.Gly1107=)
|
rs1364238191
|
0.00001
|
|
NM_000090.4(COL3A1):c.334-13A>G
|
rs375137220
|
0.00001
|
|
NM_000090.4(COL3A1):c.3344C>G (p.Pro1115Arg)
|
rs1688622334
|
0.00001
|
|
NM_000090.4(COL3A1):c.3345A>G (p.Pro1115=)
|
rs1045040851
|
0.00001
|
|
NM_000090.4(COL3A1):c.3364-8C>T
|
rs779073034
|
0.00001
|
|
NM_000090.4(COL3A1):c.3418-15A>G
|
rs754815421
|
0.00001
|
|
NM_000090.4(COL3A1):c.3430C>T (p.Pro1144Ser)
|
rs748793822
|
0.00001
|
|
NM_000090.4(COL3A1):c.3440C>T (p.Pro1147Leu)
|
rs889877870
|
0.00001
|
|
NM_000090.4(COL3A1):c.3478A>T (p.Ile1160Phe)
|
rs1688636735
|
0.00001
|
|
NM_000090.4(COL3A1):c.3492G>A (p.Gly1164=)
|
rs750595642
|
0.00001
|
|
NM_000090.4(COL3A1):c.3526-10C>T
|
rs376171095
|
0.00001
|
|
NM_000090.4(COL3A1):c.3566C>T (p.Pro1189Leu)
|
rs752598062
|
0.00001
|
|
NM_000090.4(COL3A1):c.3593G>A (p.Gly1198Asp)
|
rs756858564
|
0.00001
|
|
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala)
|
rs374452484
|
0.00001
|
|
NM_000090.4(COL3A1):c.3637G>T (p.Ala1213Ser)
|
rs1427744978
|
0.00001
|
|
NM_000090.4(COL3A1):c.3643G>A (p.Gly1215Ser)
|
rs767577382
|
0.00001
|
|
NM_000090.4(COL3A1):c.3687C>T (p.Ile1229=)
|
rs1246267310
|
0.00001
|
|
NM_000090.4(COL3A1):c.3693C>A (p.Thr1231=)
|
rs368556405
|
0.00001
|
|
NM_000090.4(COL3A1):c.3745A>G (p.Ile1249Val)
|
rs779018915
|
0.00001
|
|
NM_000090.4(COL3A1):c.3793C>A (p.Leu1265Met)
|
rs200052168
|
0.00001
|
|
NM_000090.4(COL3A1):c.3808C>A (p.Pro1270Thr)
|
rs756724842
|
0.00001
|
|
NM_000090.4(COL3A1):c.3821G>A (p.Ser1274Asn)
|
rs1688666675
|
0.00001
|
|
NM_000090.4(COL3A1):c.3824-11T>G
|
rs766096022
|
0.00001
|
|
NM_000090.4(COL3A1):c.3845A>G (p.Asn1282Ser)
|
rs1483989815
|
0.00001
|
|
NM_000090.4(COL3A1):c.3852A>G (p.Gly1284=)
|
rs1332063006
|
0.00001
|
|
NM_000090.4(COL3A1):c.3859T>C (p.Leu1287=)
|
rs770201950
|
0.00001
|
|
NM_000090.4(COL3A1):c.3935G>A (p.Arg1312Gln)
|
rs772919524
|
0.00001
|
|
NM_000090.4(COL3A1):c.3964G>A (p.Glu1322Lys)
|
rs149522780
|
0.00001
|
|
NM_000090.4(COL3A1):c.3975C>T (p.His1325=)
|
rs1167154450
|
0.00001
|
|
NM_000090.4(COL3A1):c.4003G>A (p.Gly1335Ser)
|
rs751807135
|
0.00001
|
|
NM_000090.4(COL3A1):c.4025A>G (p.Asn1342Ser)
|
rs752777683
|
0.00001
|
|
NM_000090.4(COL3A1):c.405T>C (p.Pro135=)
|
rs777238997
|
0.00001
|
|
NM_000090.4(COL3A1):c.4080C>G (p.Leu1360=)
|
rs771682647
|
0.00001
|
|
NM_000090.4(COL3A1):c.40G>A (p.Ala14Thr)
|
rs547373542
|
0.00001
|
|
NM_000090.4(COL3A1):c.40G>T (p.Ala14Ser)
|
rs547373542
|
0.00001
|
|
NM_000090.4(COL3A1):c.4100A>G (p.Asn1367Ser)
|
rs746580509
|
0.00001
|
|
NM_000090.4(COL3A1):c.4118A>G (p.Lys1373Arg)
|
rs775951025
|
0.00001
|
|
NM_000090.4(COL3A1):c.4165G>T (p.Ala1389Ser)
|
rs202022204
|
0.00001
|
|
NM_000090.4(COL3A1):c.4174C>T (p.Leu1392=)
|
rs527694833
|
0.00001
|
|
NM_000090.4(COL3A1):c.41C>G (p.Ala14Gly)
|
rs1231364424
|
0.00001
|
|
NM_000090.4(COL3A1):c.4220A>C (p.Lys1407Thr)
|
rs747651283
|
0.00001
|
|
NM_000090.4(COL3A1):c.4224C>T (p.Phe1408=)
|
rs549672243
|
0.00001
|
|
NM_000090.4(COL3A1):c.4253C>T (p.Thr1418Met)
|
rs1012915558
|
0.00001
|
|
NM_000090.4(COL3A1):c.4254+3A>G
|
rs376799861
|
0.00001
|
|
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly)
|
rs1415901923
|
0.00001
|
|
NM_000090.4(COL3A1):c.4276A>G (p.Lys1426Glu)
|
rs908421014
|
0.00001
|
|
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu)
|
rs772428340
|
0.00001
|
|
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys)
|
rs747324731
|
0.00001
|
|
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn)
|
rs1131691353
|
0.00001
|
|
NM_000090.4(COL3A1):c.4372G>A (p.Val1458Met)
|
rs751427069
|
0.00001
|
|
NM_000090.4(COL3A1):c.464A>G (p.Tyr155Cys)
|
rs1160176510
|
0.00001
|
|
NM_000090.4(COL3A1):c.497T>A (p.Val166Glu)
|
rs1016172772
|
0.00001
|
|
NM_000090.4(COL3A1):c.507C>T (p.Leu169=)
|
rs142437505
|
0.00001
|
|
NM_000090.4(COL3A1):c.508G>A (p.Ala170Thr)
|
rs374476865
|
0.00001
|
|
NM_000090.4(COL3A1):c.50A>T (p.His17Leu)
|
rs1311785540
|
0.00001
|
|
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser)
|
rs771654029
|
0.00001
|
|
NM_000090.4(COL3A1):c.537A>G (p.Pro179=)
|
rs750191923
|
0.00001
|
|
NM_000090.4(COL3A1):c.567T>C (p.Gly189=)
|
rs946410316
|
0.00001
|
|
NM_000090.4(COL3A1):c.578C>T (p.Ser193Phe)
|
rs374532486
|
0.00001
|
|
NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro)
|
rs751350498
|
0.00001
|
|
NM_000090.4(COL3A1):c.621G>A (p.Gly207=)
|
rs779352711
|
0.00001
|
|
NM_000090.4(COL3A1):c.637-15T>C
|
rs747387258
|
0.00001
|
|
NM_000090.4(COL3A1):c.667C>T (p.Pro223Ser)
|
rs1325737333
|
0.00001
|
|
NM_000090.4(COL3A1):c.669A>T (p.Pro223=)
|
rs1034042392
|
0.00001
|
|
NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser)
|
rs771858477
|
0.00001
|
|
NM_000090.4(COL3A1):c.713G>A (p.Arg238Gln)
|
rs760324242
|
0.00001
|
|
NM_000090.4(COL3A1):c.725G>A (p.Arg242Gln)
|
rs372025063
|
0.00001
|
|
NM_000090.4(COL3A1):c.745-7T>C
|
rs776306752
|
0.00001
|
|
NM_000090.4(COL3A1):c.759A>G (p.Pro253=)
|
rs376198106
|
0.00001
|
|
NM_000090.4(COL3A1):c.776T>C (p.Phe259Ser)
|
rs1688161034
|
0.00001
|
|
NM_000090.4(COL3A1):c.785T>C (p.Met262Thr)
|
rs772713162
|
0.00001
|
|
NM_000090.4(COL3A1):c.792A>G (p.Gly264=)
|
rs113304344
|
0.00001
|
|
NM_000090.4(COL3A1):c.80-13A>C
|
rs566189676
|
0.00001
|
|
NM_000090.4(COL3A1):c.80-8T>C
|
rs1241543816
|
0.00001
|
|
NM_000090.4(COL3A1):c.803T>C (p.Phe268Ser)
|
rs1318892403
|
0.00001
|
|
NM_000090.4(COL3A1):c.816T>G (p.Asn272Lys)
|
rs776111781
|
0.00001
|
|
NM_000090.4(COL3A1):c.819A>G (p.Gly273=)
|
rs761106446
|
0.00001
|
|
NM_000090.4(COL3A1):c.84T>C (p.Val28=)
|
rs752574994
|
0.00001
|
|
NM_000090.4(COL3A1):c.884C>T (p.Ala295Val)
|
rs1016767830
|
0.00001
|
|
NM_000090.4(COL3A1):c.891A>C (p.Gly297=)
|
rs751603655
|
0.00001
|
|
NM_000090.4(COL3A1):c.898-14A>G
|
rs763316592
|
0.00001
|
|
NM_000090.4(COL3A1):c.945G>A (p.Gly315=)
|
rs372206736
|
0.00001
|
|
NM_000090.4(COL3A1):c.996A>G (p.Pro332=)
|
rs1229792348
|
0.00001
|
|
NM_000138.5(FBN1):c.-6G>T
|
rs1890264028
|
0.00001
|
|
NM_000138.5(FBN1):c.-7C>T
|
rs752581747
|
0.00001
|
|
NM_000138.5(FBN1):c.1026C>T (p.Asn342=)
|
rs769282306
|
0.00001
|
|
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)
|
rs752010116
|
0.00001
|
|
NM_000138.5(FBN1):c.1031G>A (p.Arg344His)
|
rs200388305
|
0.00001
|
|
NM_000138.5(FBN1):c.1086C>T (p.Ala362=)
|
rs1338617046
|
0.00001
|
|
NM_000138.5(FBN1):c.1108G>T (p.Val370Phe)
|
rs1191931914
|
0.00001
|
|
NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr)
|
rs766162654
|
0.00001
|
|
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)
|
rs762598979
|
0.00001
|
|
NM_000138.5(FBN1):c.1131T>C (p.Cys377=)
|
rs769211348
|
0.00001
|
|
NM_000138.5(FBN1):c.1152T>G (p.Asp384Glu)
|
rs747519215
|
0.00001
|
|
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)
|
rs746385384
|
0.00001
|
|
NM_000138.5(FBN1):c.1215C>A (p.Pro405=)
|
rs1213208601
|
0.00001
|
|
NM_000138.5(FBN1):c.1216C>G (p.Leu406Val)
|
rs1257581073
|
0.00001
|
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
|
NM_000138.5(FBN1):c.1368C>G (p.Val456=)
|
rs1433264110
|
0.00001
|
|
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys)
|
rs749133312
|
0.00001
|
|
NM_000138.5(FBN1):c.1391G>A (p.Arg464His)
|
rs1166727485
|
0.00001
|
|
NM_000138.5(FBN1):c.13C>T (p.Arg5Cys)
|
rs759323371
|
0.00001
|
|
NM_000138.5(FBN1):c.1417C>T (p.Arg473Trp)
|
rs767068276
|
0.00001
|
|
NM_000138.5(FBN1):c.1454G>T (p.Arg485Leu)
|
rs371985966
|
0.00001
|
|
NM_000138.5(FBN1):c.1460A>C (p.Glu487Ala)
|
rs763431921
|
0.00001
|
|
NM_000138.5(FBN1):c.149A>T (p.His50Leu)
|
rs886039132
|
0.00001
|
|
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu)
|
rs776942896
|
0.00001
|
|
NM_000138.5(FBN1):c.1586G>A (p.Arg529Gln)
|
rs1441536824
|
0.00001
|
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
|
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp)
|
rs752999845
|
0.00001
|
|
NM_000138.5(FBN1):c.1639A>G (p.Ile547Val)
|
rs759813328
|
0.00001
|
|
NM_000138.5(FBN1):c.164+6G>A
|
rs760968439
|
0.00001
|
|
NM_000138.5(FBN1):c.165-13G>A
|
rs985235880
|
0.00001
|
|
NM_000138.5(FBN1):c.165-4T>A
|
rs761159501
|
0.00001
|
|
NM_000138.5(FBN1):c.165-7G>A
|
rs397515761
|
0.00001
|
|
NM_000138.5(FBN1):c.165-9T>C
|
rs758117122
|
0.00001
|
|
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val)
|
rs141551765
|
0.00001
|
|
NM_000138.5(FBN1):c.167C>T (p.Pro56Leu)
|
rs1262119022
|
0.00001
|
|
NM_000138.5(FBN1):c.1694G>A (p.Arg565Gln)
|
rs763815231
|
0.00001
|
|
NM_000138.5(FBN1):c.1715-14T>G
|
rs753746089
|
0.00001
|
|
NM_000138.5(FBN1):c.174C>A (p.Val58=)
|
rs369096927
|
0.00001
|
|
NM_000138.5(FBN1):c.181T>C (p.Ser61Pro)
|
rs1166519673
|
0.00001
|
|
NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys)
|
rs772574901
|
0.00001
|
|
NM_000138.5(FBN1):c.1826G>A (p.Arg609His)
|
rs770393471
|
0.00001
|
|
NM_000138.5(FBN1):c.1838-7G>A
|
rs772849691
|
0.00001
|
|
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser)
|
rs397515763
|
0.00001
|
|
NM_000138.5(FBN1):c.1845C>T (p.Asn615=)
|
rs932735615
|
0.00001
|
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
|
NM_000138.5(FBN1):c.1858C>T (p.Pro620Ser)
|
rs1220853793
|
0.00001
|
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
|
NM_000138.5(FBN1):c.1937G>A (p.Gly646Asp)
|
rs1238689648
|
0.00001
|
|
NM_000138.5(FBN1):c.1949G>A (p.Arg650His)
|
rs1437690192
|
0.00001
|
|
NM_000138.5(FBN1):c.1977C>T (p.Ser659=)
|
rs750118053
|
0.00001
|
|
NM_000138.5(FBN1):c.2020T>C (p.Leu674=)
|
rs753453348
|
0.00001
|
|
NM_000138.5(FBN1):c.207T>C (p.Pro69=)
|
rs771057822
|
0.00001
|
|
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg)
|
rs769708437
|
0.00001
|
|
NM_000138.5(FBN1):c.2115G>A (p.Ala705=)
|
rs932764622
|
0.00001
|
|
NM_000138.5(FBN1):c.2126C>G (p.Ala709Gly)
|
rs794728184
|
0.00001
|
|
NM_000138.5(FBN1):c.2127A>C (p.Ala709=)
|
rs886038990
|
0.00001
|
|
NM_000138.5(FBN1):c.2153C>T (p.Thr718Met)
|
rs777526851
|
0.00001
|
|
NM_000138.5(FBN1):c.2188G>A (p.Asp730Asn)
|
rs199625633
|
0.00001
|
|
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys)
|
rs1450795956
|
0.00001
|
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
|
NM_000138.5(FBN1):c.2267T>C (p.Val756Ala)
|
rs764101656
|
0.00001
|
|
NM_000138.5(FBN1):c.2269G>C (p.Asp757His)
|
rs2043616147
|
0.00001
|
|
NM_000138.5(FBN1):c.2349T>C (p.Asn783=)
|
rs1057522903
|
0.00001
|
|
NM_000138.5(FBN1):c.2381A>C (p.Lys794Thr)
|
rs375366432
|
0.00001
|
|
NM_000138.5(FBN1):c.2433C>T (p.Cys811=)
|
rs193921256
|
0.00001
|
|
NM_000138.5(FBN1):c.247+3A>G
|
rs201854371
|
0.00001
|
|
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr)
|
rs751564716
|
0.00001
|
|
NM_000138.5(FBN1):c.2540-7T>C
|
rs749692510
|
0.00001
|
|
NM_000138.5(FBN1):c.2598C>T (p.Ile866=)
|
rs752457534
|
0.00001
|
|
NM_000138.5(FBN1):c.2628C>T (p.Cys876=)
|
rs112085967
|
0.00001
|
|
NM_000138.5(FBN1):c.2634C>T (p.Ser878=)
|
rs770395971
|
0.00001
|
|
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
|
rs772308703
|
0.00001
|
|
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg)
|
rs778951277
|
0.00001
|
|
NM_000138.5(FBN1):c.2748G>A (p.Val916=)
|
rs1339922695
|
0.00001
|
|
NM_000138.5(FBN1):c.2768A>G (p.Asn923Ser)
|
rs1220842179
|
0.00001
|
|
NM_000138.5(FBN1):c.2771G>T (p.Gly924Val)
|
rs1206476337
|
0.00001
|
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
|
NM_000138.5(FBN1):c.284C>T (p.Ser95Leu)
|
rs922684362
|
0.00001
|
|
NM_000138.5(FBN1):c.2855-4A>G
|
rs769851513
|
0.00001
|
|
NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr)
|
rs1177856657
|
0.00001
|
|
NM_000138.5(FBN1):c.285G>A (p.Ser95=)
|
rs745596276
|
0.00001
|
|
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)
|
rs794728291
|
0.00001
|
|
NM_000138.5(FBN1):c.2883G>A (p.Arg961=)
|
rs142964120
|
0.00001
|
|
NM_000138.5(FBN1):c.2886C>T (p.Tyr962=)
|
rs772108557
|
0.00001
|
|
NM_000138.5(FBN1):c.2902A>T (p.Thr968Ser)
|
rs752117227
|
0.00001
|
|
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)
|
rs397514558
|
0.00001
|
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
|
NM_000138.5(FBN1):c.3036C>T (p.Pro1012=)
|
rs766194667
|
0.00001
|
|
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr)
|
rs55831697
|
0.00001
|
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
|
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn)
|
rs758366498
|
0.00001
|
|
NM_000138.5(FBN1):c.3209-3C>A
|
rs397515787
|
0.00001
|
|
NM_000138.5(FBN1):c.3209-9T>C
|
rs1188743312
|
0.00001
|
|
NM_000138.5(FBN1):c.3255G>A (p.Gln1085=)
|
rs767088495
|
0.00001
|
|
NM_000138.5(FBN1):c.3330C>T (p.Asn1110=)
|
rs374584763
|
0.00001
|
|
NM_000138.5(FBN1):c.3340A>G (p.Ile1114Val)
|
rs1006702602
|
0.00001
|
|
NM_000138.5(FBN1):c.3368T>A (p.Leu1123Gln)
|
rs201336778
|
0.00001
|
|
NM_000138.5(FBN1):c.3369A>G (p.Leu1123=)
|
rs1245413946
|
0.00001
|
|
NM_000138.5(FBN1):c.3376G>A (p.Gly1126Ser)
|
rs1437464599
|
0.00001
|
|
NM_000138.5(FBN1):c.3405T>A (p.Ser1135Arg)
|
rs777727844
|
0.00001
|
|
NM_000138.5(FBN1):c.351A>T (p.Gln117His)
|
rs201083095
|
0.00001
|
|
NM_000138.5(FBN1):c.3522C>T (p.Leu1174=)
|
rs778312047
|
0.00001
|
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
|
NM_000138.5(FBN1):c.3563C>T (p.Ser1188Leu)
|
rs1057520181
|
0.00001
|
|
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=)
|
rs188317014
|
0.00001
|
|
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)
|
rs370121450
|
0.00001
|
|
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val)
|
rs370572503
|
0.00001
|
|
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr)
|
rs755375255
|
0.00001
|
|
NM_000138.5(FBN1):c.3654C>T (p.Ser1218=)
|
rs760712674
|
0.00001
|
|
NM_000138.5(FBN1):c.365G>A (p.Arg122His)
|
rs1010750845
|
0.00001
|
|
NM_000138.5(FBN1):c.3674C>T (p.Pro1225Leu)
|
rs775532488
|
0.00001
|
|
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu)
|
rs759424465
|
0.00001
|
|
NM_000138.5(FBN1):c.3689T>C (p.Met1230Thr)
|
rs774003646
|
0.00001
|
|
NM_000138.5(FBN1):c.3693T>C (p.Pro1231=)
|
rs1364910158
|
0.00001
|
|
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=)
|
rs536369260
|
0.00001
|
|
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn)
|
rs573187346
|
0.00001
|
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
|
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)
|
rs200283837
|
0.00001
|
|
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser)
|
rs140647
|
0.00001
|
|
NM_000138.5(FBN1):c.3897G>A (p.Thr1299=)
|
rs771283158
|
0.00001
|
|
NM_000138.5(FBN1):c.393C>T (p.Asp131=)
|
rs549054625
|
0.00001
|
|
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=)
|
rs536546914
|
0.00001
|
|
NM_000138.5(FBN1):c.4012G>A (p.Val1338Ile)
|
rs1416288007
|
0.00001
|
|
NM_000138.5(FBN1):c.4014A>G (p.Val1338=)
|
rs763716418
|
0.00001
|
|
NM_000138.5(FBN1):c.4056C>T (p.Pro1352=)
|
rs766969494
|
0.00001
|
|
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)
|
rs187177496
|
0.00001
|
|
NM_000138.5(FBN1):c.4059G>T (p.Gly1353=)
|
rs886038250
|
0.00001
|
|
NM_000138.5(FBN1):c.4087+6T>A
|
rs746201265
|
0.00001
|
|
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser)
|
rs370923981
|
0.00001
|
|
NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=)
|
rs1332403498
|
0.00001
|
|
NM_000138.5(FBN1):c.4170G>A (p.Leu1390=)
|
rs1229052328
|
0.00001
|
|
NM_000138.5(FBN1):c.4218T>C (p.Asp1406=)
|
rs759712586
|
0.00001
|
|
NM_000138.5(FBN1):c.4272A>G (p.Pro1424=)
|
rs1187173937
|
0.00001
|
|
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys)
|
rs1258352189
|
0.00001
|
|
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn)
|
rs778145681
|
0.00001
|
|
NM_000138.5(FBN1):c.4304T>C (p.Phe1435Ser)
|
rs1417057509
|
0.00001
|
|
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)
|
rs377338217
|
0.00001
|
|
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
|
rs587782945
|
0.00001
|
|
NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val)
|
rs560230585
|
0.00001
|
|
NM_000138.5(FBN1):c.4337-6C>G
|
rs1225924246
|
0.00001
|
|
NM_000138.5(FBN1):c.4359G>A (p.Pro1453=)
|
rs748551052
|
0.00001
|
|
NM_000138.5(FBN1):c.4401G>T (p.Leu1467=)
|
rs747377334
|
0.00001
|
|
NM_000138.5(FBN1):c.4428C>T (p.Tyr1476=)
|
rs767462642
|
0.00001
|
|
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser)
|
rs780624885
|
0.00001
|
|
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser)
|
rs762532435
|
0.00001
|
|
NM_000138.5(FBN1):c.4446C>T (p.Gly1482=)
|
rs772727859
|
0.00001
|
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
|
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln)
|
rs1180715983
|
0.00001
|
|
NM_000138.5(FBN1):c.4527T>C (p.Tyr1509=)
|
rs776021250
|
0.00001
|
|
NM_000138.5(FBN1):c.4530C>T (p.Ile1510=)
|
rs772526144
|
0.00001
|
|
NM_000138.5(FBN1):c.4568G>A (p.Arg1523Gln)
|
rs201546777
|
0.00001
|
|
NM_000138.5(FBN1):c.4581T>C (p.Val1527=)
|
rs2043340510
|
0.00001
|
|
NM_000138.5(FBN1):c.4589G>A (p.Arg1530His)
|
rs778710767
|
0.00001
|
|
NM_000138.5(FBN1):c.4598A>G (p.Asn1533Ser)
|
rs1254024310
|
0.00001
|
|
NM_000138.5(FBN1):c.4622G>A (p.Arg1541Gln)
|
rs753491504
|
0.00001
|
|
NM_000138.5(FBN1):c.4695T>A (p.Ser1565=)
|
rs1891548285
|
0.00001
|
|
NM_000138.5(FBN1):c.46C>T (p.Leu16Phe)
|
rs982368209
|
0.00001
|
|
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu)
|
rs1286993730
|
0.00001
|
|
NM_000138.5(FBN1):c.4738G>A (p.Val1580Met)
|
rs794728230
|
0.00001
|
|
NM_000138.5(FBN1):c.4832A>G (p.Gln1611Arg)
|
rs746320943
|
0.00001
|
|
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr)
|
rs193922210
|
0.00001
|
|
NM_000138.5(FBN1):c.4894C>T (p.Arg1632Cys)
|
rs544990350
|
0.00001
|
|
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His)
|
rs756227025
|
0.00001
|
|
NM_000138.5(FBN1):c.4906G>A (p.Gly1636Ser)
|
rs767451077
|
0.00001
|
|
NM_000138.5(FBN1):c.4931G>A (p.Arg1644Gln)
|
rs768366890
|
0.00001
|
|
NM_000138.5(FBN1):c.4943-3T>C
|
rs367594261
|
0.00001
|
|
NM_000138.5(FBN1):c.494G>A (p.Arg165Gln)
|
rs1060501079
|
0.00001
|
|
NM_000138.5(FBN1):c.4980A>G (p.Pro1660=)
|
rs757202254
|
0.00001
|
|
NM_000138.5(FBN1):c.5007C>T (p.Asn1669=)
|
rs1267512714
|
0.00001
|
|
NM_000138.5(FBN1):c.5063T>C (p.Met1688Thr)
|
rs771444877
|
0.00001
|
|
NM_000138.5(FBN1):c.5065+4A>G
|
rs370287674
|
0.00001
|
|
NM_000138.5(FBN1):c.5065+5G>A
|
rs773660804
|
0.00001
|
|
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)
|
rs373320952
|
0.00001
|
|
NM_000138.5(FBN1):c.5103T>G (p.Ala1701=)
|
rs1163353168
|
0.00001
|
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
|
NM_000138.5(FBN1):c.5184G>A (p.Ala1728=)
|
rs754660497
|
0.00001
|
|
NM_000138.5(FBN1):c.5268C>A (p.Val1756=)
|
rs764685311
|
0.00001
|
|
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=)
|
rs373887214
|
0.00001
|
|
NM_000138.5(FBN1):c.5293G>A (p.Val1765Ile)
|
rs2043270857
|
0.00001
|
|
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)
|
rs759791896
|
0.00001
|
|
NM_000138.5(FBN1):c.5340A>C (p.Gly1780=)
|
rs766501385
|
0.00001
|
|
NM_000138.5(FBN1):c.5347A>T (p.Ile1783Phe)
|
rs1232797551
|
0.00001
|
|
NM_000138.5(FBN1):c.5430C>T (p.Asp1810=)
|
rs765338162
|
0.00001
|
|
NM_000138.5(FBN1):c.5441A>G (p.Asn1814Ser)
|
rs775463311
|
0.00001
|
|
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met)
|
rs757901214
|
0.00001
|
|
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His)
|
rs1340155407
|
0.00001
|
|
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr)
|
rs777539060
|
0.00001
|
|
NM_000138.5(FBN1):c.5502C>G (p.Asp1834Glu)
|
rs1566900494
|
0.00001
|
|
NM_000138.5(FBN1):c.5509C>T (p.Pro1837Ser)
|
rs755430984
|
0.00001
|
|
NM_000138.5(FBN1):c.5510C>G (p.Pro1837Arg)
|
rs752008146
|
0.00001
|
|
NM_000138.5(FBN1):c.5511C>T (p.Pro1837=)
|
rs372767912
|
0.00001
|
|
NM_000138.5(FBN1):c.5548C>T (p.Arg1850Cys)
|
rs750720912
|
0.00001
|
|
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)
|
rs766358553
|
0.00001
|
|
NM_000138.5(FBN1):c.5585A>G (p.His1862Arg)
|
rs976161721
|
0.00001
|
|
NM_000138.5(FBN1):c.5596A>G (p.Ile1866Val)
|
rs367586350
|
0.00001
|
|
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)
|
rs145082616
|
0.00001
|
|
NM_000138.5(FBN1):c.5649T>C (p.Asn1883=)
|
rs1192296578
|
0.00001
|
|
NM_000138.5(FBN1):c.5738A>G (p.Asn1913Ser)
|
rs749606552
|
0.00001
|
|
NM_000138.5(FBN1):c.5757T>C (p.Gly1919=)
|
rs756351292
|
0.00001
|
|
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp)
|
rs1060501097
|
0.00001
|
|
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del)
|
rs886038964
|
0.00001
|
|
NM_000138.5(FBN1):c.5805A>C (p.Ala1935=)
|
rs755825254
|
0.00001
|
|
NM_000138.5(FBN1):c.5817G>A (p.Gly1939=)
|
rs767097888
|
0.00001
|
|
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp)
|
rs956702513
|
0.00001
|
|
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)
|
rs773486280
|
0.00001
|
|
NM_000138.5(FBN1):c.590G>A (p.Gly197Glu)
|
rs895824095
|
0.00001
|
|
NM_000138.5(FBN1):c.5977G>A (p.Asp1993Asn)
|
rs377671719
|
0.00001
|
|
NM_000138.5(FBN1):c.5991A>G (p.Arg1997=)
|
rs201346996
|
0.00001
|
|
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
|
NM_000138.5(FBN1):c.6038-8T>A
|
rs569460847
|
0.00001
|
|
NM_000138.5(FBN1):c.6041T>C (p.Ile2014Thr)
|
rs776507208
|
0.00001
|
|
NM_000138.5(FBN1):c.6099A>G (p.Glu2033=)
|
rs1397665480
|
0.00001
|
|
NM_000138.5(FBN1):c.6110A>G (p.Lys2037Arg)
|
rs556131403
|
0.00001
|
|
NM_000138.5(FBN1):c.6147T>C (p.Ser2049=)
|
rs553959381
|
0.00001
|
|
NM_000138.5(FBN1):c.6163+2dup
|
rs794728315
|
0.00001
|
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
|
NM_000138.5(FBN1):c.6196G>A (p.Glu2066Lys)
|
rs1219570062
|
0.00001
|
|
NM_000138.5(FBN1):c.6315G>A (p.Glu2105=)
|
rs1478813051
|
0.00001
|
|
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His)
|
rs762659907
|
0.00001
|
|
NM_000138.5(FBN1):c.6336T>C (p.Pro2112=)
|
rs772876451
|
0.00001
|
|
NM_000138.5(FBN1):c.639C>T (p.Val213=)
|
rs543984363
|
0.00001
|
|
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg)
|
rs794728248
|
0.00001
|
|
NM_000138.5(FBN1):c.6417T>C (p.His2139=)
|
rs551162566
|
0.00001
|
|
NM_000138.5(FBN1):c.6438T>C (p.Asp2146=)
|
rs1398482166
|
0.00001
|
|
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly)
|
rs111687884
|
0.00001
|
|
NM_000138.5(FBN1):c.644G>A (p.Arg215Gln)
|
rs753703844
|
0.00001
|
|
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg)
|
rs756219617
|
0.00001
|
|
NM_000138.5(FBN1):c.6493G>T (p.Val2165Leu)
|
rs200469438
|
0.00001
|
|
NM_000138.5(FBN1):c.6496+3G>A
|
rs750222196
|
0.00001
|
|
NM_000138.5(FBN1):c.6497-12G>C
|
rs369726558
|
0.00001
|
|
NM_000138.5(FBN1):c.654C>G (p.Gly218=)
|
rs375181377
|
0.00001
|
|
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp)
|
rs2043050989
|
0.00001
|
|
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val)
|
rs776823384
|
0.00001
|
|
NM_000138.5(FBN1):c.6609A>G (p.Thr2203=)
|
rs547573220
|
0.00001
|
|
NM_000138.5(FBN1):c.6617-11C>A
|
rs932325724
|
0.00001
|
|
NM_000138.5(FBN1):c.6675T>C (p.Tyr2225=)
|
rs1260533788
|
0.00001
|
|
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)
|
rs779749926
|
0.00001
|
|
NM_000138.5(FBN1):c.6725G>A (p.Arg2242His)
|
rs773084230
|
0.00001
|
|
NM_000138.5(FBN1):c.6768T>C (p.His2256=)
|
rs1047633779
|
0.00001
|
|
NM_000138.5(FBN1):c.6783A>C (p.Lys2261Asn)
|
rs771716423
|
0.00001
|
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
|
NM_000138.5(FBN1):c.6859G>C (p.Glu2287Gln)
|
rs551736585
|
0.00001
|
|
NM_000138.5(FBN1):c.687C>G (p.His229Gln)
|
rs1391600366
|
0.00001
|
|
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)
|
rs770443276
|
0.00001
|
|
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His)
|
rs141868829
|
0.00001
|
|
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)
|
rs148831709
|
0.00001
|
|
NM_000138.5(FBN1):c.6993C>T (p.Cys2331=)
|
rs534811966
|
0.00001
|
|
NM_000138.5(FBN1):c.6998-14A>C
|
rs750002445
|
0.00001
|
|
NM_000138.5(FBN1):c.7040T>C (p.Met2347Thr)
|
rs1270326945
|
0.00001
|
|
NM_000138.5(FBN1):c.7057A>G (p.Ser2353Gly)
|
rs886042199
|
0.00001
|
|
NM_000138.5(FBN1):c.7071C>T (p.Pro2357=)
|
rs397515843
|
0.00001
|
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
|
NM_000138.5(FBN1):c.7083G>A (p.Ser2361=)
|
rs1597517953
|
0.00001
|
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
|
NM_000138.5(FBN1):c.7186T>C (p.Phe2396Leu)
|
rs530362771
|
0.00001
|
|
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)
|
rs774698871
|
0.00001
|
|
NM_000138.5(FBN1):c.7204+6T>G
|
rs534417939
|
0.00001
|
|
NM_000138.5(FBN1):c.7205-12G>C
|
rs2042976362
|
0.00001
|
|
NM_000138.5(FBN1):c.7209C>T (p.Ile2403=)
|
rs767903343
|
0.00001
|
|
NM_000138.5(FBN1):c.7228C>T (p.His2410Tyr)
|
rs548057493
|
0.00001
|
|
NM_000138.5(FBN1):c.7317G>C (p.Gly2439=)
|
rs766871786
|
0.00001
|
|
NM_000138.5(FBN1):c.7330+4A>G
|
rs750677373
|
0.00001
|
|
NM_000138.5(FBN1):c.7330+5G>A
|
rs1330909386
|
0.00001
|
|
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr)
|
rs1166405014
|
0.00001
|
|
NM_000138.5(FBN1):c.7413G>A (p.Pro2471=)
|
rs769588855
|
0.00001
|
|
NM_000138.5(FBN1):c.7521C>T (p.Phe2507=)
|
rs111895751
|
0.00001
|
|
NM_000138.5(FBN1):c.7548C>G (p.Thr2516=)
|
rs1270266819
|
0.00001
|
|
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)
|
rs763759308
|
0.00001
|
|
NM_000138.5(FBN1):c.7567A>C (p.Ile2523Leu)
|
rs199524640
|
0.00001
|
|
NM_000138.5(FBN1):c.756C>T (p.Ala252=)
|
rs1398534692
|
0.00001
|
|
NM_000138.5(FBN1):c.75G>A (p.Ala25=)
|
rs543230518
|
0.00001
|
|
NM_000138.5(FBN1):c.7602G>A (p.Leu2534=)
|
rs1392530685
|
0.00001
|
|
NM_000138.5(FBN1):c.7605C>T (p.Cys2535=)
|
rs113544411
|
0.00001
|
|
NM_000138.5(FBN1):c.7617C>T (p.Gly2539=)
|
rs1388794275
|
0.00001
|
|
NM_000138.5(FBN1):c.762C>T (p.Pro254=)
|
rs374318726
|
0.00001
|
|
NM_000138.5(FBN1):c.763G>A (p.Gly255Arg)
|
rs781113082
|
0.00001
|
|
NM_000138.5(FBN1):c.7700-11T>C
|
rs992155203
|
0.00001
|
|
NM_000138.5(FBN1):c.7702G>A (p.Val2568Met)
|
rs138558987
|
0.00001
|
|
NM_000138.5(FBN1):c.7707C>T (p.Asp2569=)
|
rs756093148
|
0.00001
|
|
NM_000138.5(FBN1):c.7735C>T (p.His2579Tyr)
|
rs1483255856
|
0.00001
|
|
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu)
|
rs751169871
|
0.00001
|
|
NM_000138.5(FBN1):c.7773C>T (p.Ser2591=)
|
rs764526450
|
0.00001
|
|
NM_000138.5(FBN1):c.7836C>T (p.Leu2612=)
|
rs756689495
|
0.00001
|
|
NM_000138.5(FBN1):c.7839C>T (p.Ser2613=)
|
rs193922238
|
0.00001
|
|
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
|
NM_000138.5(FBN1):c.7903G>A (p.Ala2635Thr)
|
rs746859988
|
0.00001
|
|
NM_000138.5(FBN1):c.7929T>C (p.Ser2643=)
|
rs745524158
|
0.00001
|
|
NM_000138.5(FBN1):c.794C>T (p.Thr265Ile)
|
rs762310407
|
0.00001
|
|
NM_000138.5(FBN1):c.796G>A (p.Val266Ile)
|
rs201669595
|
0.00001
|
|
NM_000138.5(FBN1):c.7998C>T (p.Thr2666=)
|
rs1374170310
|
0.00001
|
|
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser)
|
rs745650955
|
0.00001
|
|
NM_000138.5(FBN1):c.8029G>A (p.Gly2677Ser)
|
rs1566889839
|
0.00001
|
|
NM_000138.5(FBN1):c.8049A>G (p.Gln2683=)
|
rs1208510012
|
0.00001
|
|
NM_000138.5(FBN1):c.8051+5G>A
|
rs767384075
|
0.00001
|
|
NM_000138.5(FBN1):c.8055C>T (p.His2685=)
|
rs1309361114
|
0.00001
|
|
NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser)
|
rs759494825
|
0.00001
|
|
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)
|
rs552157433
|
0.00001
|
|
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)
|
rs200231626
|
0.00001
|
|
NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg)
|
rs794728340
|
0.00001
|
|
NM_000138.5(FBN1):c.8199A>T (p.Thr2733=)
|
rs1372383251
|
0.00001
|
|
NM_000138.5(FBN1):c.8200A>G (p.Asn2734Asp)
|
rs757532651
|
0.00001
|
|
NM_000138.5(FBN1):c.8211T>C (p.Asp2737=)
|
rs1221183561
|
0.00001
|
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
|
NM_000138.5(FBN1):c.827G>T (p.Gly276Val)
|
rs534859193
|
0.00001
|
|
NM_000138.5(FBN1):c.8287A>G (p.Ile2763Val)
|
rs775172479
|
0.00001
|
|
NM_000138.5(FBN1):c.8295T>A (p.Ala2765=)
|
rs1417594908
|
0.00001
|
|
NM_000138.5(FBN1):c.8364G>A (p.Thr2788=)
|
rs112945086
|
0.00001
|
|
NM_000138.5(FBN1):c.8466A>G (p.Pro2822=)
|
rs147279938
|
0.00001
|
|
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)
|
rs376933421
|
0.00001
|
|
NM_000138.5(FBN1):c.8524C>T (p.Leu2842Phe)
|
rs755903722
|
0.00001
|
|
NM_000138.5(FBN1):c.8533C>G (p.Leu2845Val)
|
rs767060377
|
0.00001
|
|
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)
|
rs754570125
|
0.00001
|
|
NM_000138.5(FBN1):c.8538A>C (p.Glu2846Asp)
|
rs778948309
|
0.00001
|
|
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr)
|
rs765839151
|
0.00001
|
|
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)
|
rs371939796
|
0.00001
|
|
NM_000138.5(FBN1):c.855A>G (p.Lys285=)
|
rs1272913373
|
0.00001
|
|
NM_000138.5(FBN1):c.8593A>G (p.Lys2865Glu)
|
rs775732785
|
0.00001
|
|
NM_000138.5(FBN1):c.8598C>A (p.Ile2866=)
|
rs1566888537
|
0.00001
|
|
NM_000138.5(FBN1):c.8602G>A (p.Val2868Ile)
|
rs1365239366
|
0.00001
|
|
NM_000138.5(FBN1):c.8606T>C (p.Leu2869Ser)
|
rs363848
|
0.00001
|
|
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly)
|
rs565078451
|
0.00001
|
|
NM_000138.5(FBN1):c.876C>T (p.Cys292=)
|
rs1286340387
|
0.00001
|
|
NM_000138.5(FBN1):c.913A>G (p.Thr305Ala)
|
rs758035051
|
0.00001
|
|
NM_000138.5(FBN1):c.954T>A (p.Gly318=)
|
rs753055657
|
0.00001
|
|
NM_000138.5(FBN1):c.963C>T (p.Thr321=)
|
rs767914958
|
0.00001
|
|
NM_000138.5(FBN1):c.968C>T (p.Pro323Leu)
|
rs1183175645
|
0.00001
|
|
NM_000138.5(FBN1):c.969A>G (p.Pro323=)
|
rs759743242
|
0.00001
|
|
NM_000138.5(FBN1):c.987A>G (p.Ile329Met)
|
rs1289726476
|
0.00001
|
|
NM_000218.3(KCNQ1):c.*2G>T
|
rs977184677
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1008C>T (p.Ala336=)
|
rs201009813
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1023G>A (p.Ala341=)
|
rs772363276
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val)
|
rs199472763
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1035G>A (p.Gly345=)
|
rs534906627
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1047G>A (p.Ser349=)
|
rs199630316
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val)
|
rs775362401
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1128+3G>A
|
rs539607508
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1131C>T (p.Thr377=)
|
rs763723387
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1140G>A (p.Arg380=)
|
rs199472771
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1161C>T (p.Pro387=)
|
rs772078282
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1164C>T (p.Asp388=)
|
rs555968887
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1173C>T (p.Thr391=)
|
rs770808054
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1185C>T (p.Tyr395=)
|
rs764870839
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1198C>G (p.Pro400Ala)
|
rs1489132337
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1209C>T (p.His403=)
|
rs779294146
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1246G>A (p.Val416Met)
|
rs777546418
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1252-11G>T
|
rs773848861
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1257G>A (p.Lys419=)
|
rs759955554
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1263A>G (p.Lys421=)
|
rs765645573
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1281A>G (p.Lys427=)
|
rs763197403
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn)
|
rs149089817
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1351C>T (p.Arg451Trp)
|
rs199472782
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1356G>T (p.Arg452=)
|
rs753619991
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=)
|
rs200418488
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1402A>G (p.Ser468Gly)
|
rs763931151
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1415T>C (p.Leu472Pro)
|
rs544402388
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1425C>T (p.Ser475=)
|
rs562579708
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1446C>T (p.Thr482=)
|
rs1060503982
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1449C>A (p.Asn483Lys)
|
rs1849966701
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu)
|
rs778041701
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1497C>T (p.Pro499=)
|
rs1309942328
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1498A>G (p.Ile500Val)
|
rs189794855
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln)
|
rs369571296
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1532G>A (p.Arg511Gln)
|
rs753962384
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His)
|
rs199472788
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)
|
rs397508097
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp)
|
rs199472793
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln)
|
rs574321120
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1608C>T (p.Tyr536=)
|
rs138551008
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)
|
rs199472800
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1716G>A (p.Leu572=)
|
rs886039093
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1732+4G>A
|
rs1846720105
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1764C>T (p.Ile588=)
|
rs377206449
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser)
|
rs780676796
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)
|
rs199472815
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1785A>G (p.Val595=)
|
rs1027750390
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1794+6C>T
|
rs1481251308
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1795-5C>T
|
rs727503104
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1795-6C>T
|
rs1412279664
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=)
|
rs774101297
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1851C>T (p.Leu617=)
|
rs962199389
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser)
|
rs199472821
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1884C>T (p.Gly628=)
|
rs769848998
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu)
|
rs939431028
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1919A>T (p.Gln640Leu)
|
rs1246665674
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1925G>T (p.Cys642Phe)
|
rs1456989889
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1978C>T (p.Pro660Ser)
|
rs867880610
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1998C>T (p.Thr666=)
|
rs775497150
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met)
|
rs776119582
|
0.00001
|
|
NM_000218.3(KCNQ1):c.2007G>C (p.Arg669Ser)
|
rs1224780355
|
0.00001
|
|
NM_000218.3(KCNQ1):c.2009G>A (p.Arg670Lys)
|
rs763389576
|
0.00001
|
|
NM_000218.3(KCNQ1):c.2011G>A (p.Gly671Ser)
|
rs764563996
|
0.00001
|
|
NM_000218.3(KCNQ1):c.394A>C (p.Ile132Leu)
|
rs199472684
|
0.00001
|
|
NM_000218.3(KCNQ1):c.420C>T (p.Ser140=)
|
rs377520734
|
0.00001
|
|
NM_000218.3(KCNQ1):c.445G>A (p.Ala149Thr)
|
rs1362690035
|
0.00001
|
|
NM_000218.3(KCNQ1):c.462G>A (p.Gly154=)
|
rs759593218
|
0.00001
|
|
NM_000218.3(KCNQ1):c.477+1G>A
|
rs762814879
|
0.00001
|
|
NM_000218.3(KCNQ1):c.477+4C>T
|
rs763599970
|
0.00001
|
|
NM_000218.3(KCNQ1):c.477+5G>A
|
rs397508111
|
0.00001
|
|
NM_000218.3(KCNQ1):c.478-7C>G
|
rs372906106
|
0.00001
|
|
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)
|
rs179489
|
0.00001
|
|
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met)
|
rs199472693
|
0.00001
|
|
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)
|
rs199472694
|
0.00001
|
|
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)
|
rs199472696
|
0.00001
|
|
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)
|
rs199473394
|
0.00001
|
|
NM_000218.3(KCNQ1):c.541C>T (p.Arg181Cys)
|
rs199473395
|
0.00001
|
|
NM_000218.3(KCNQ1):c.552C>T (p.Tyr184=)
|
rs780231722
|
0.00001
|
|
NM_000218.3(KCNQ1):c.573G>T (p.Leu191=)
|
rs764634277
|
0.00001
|
|
NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys)
|
rs775059928
|
0.00001
|
|
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His)
|
rs199472698
|
0.00001
|
|
NM_000218.3(KCNQ1):c.576C>T (p.Arg192=)
|
rs762267954
|
0.00001
|
|
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)
|
rs199472702
|
0.00001
|
|
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met)
|
rs17215479
|
0.00001
|
|
NM_000218.3(KCNQ1):c.672G>A (p.Thr224=)
|
rs550887954
|
0.00001
|
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
0.00001
|
|
NM_000218.3(KCNQ1):c.683+5G>A
|
rs397508122
|
0.00001
|
|
NM_000218.3(KCNQ1):c.684-5C>T
|
rs1212611138
|
0.00001
|
|
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)
|
rs199473457
|
0.00001
|
|
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys)
|
rs199472713
|
0.00001
|
|
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)
|
rs120074196
|
0.00001
|
|
NM_000218.3(KCNQ1):c.729C>T (p.Arg243=)
|
rs755104170
|
0.00001
|
|
NM_000218.3(KCNQ1):c.757T>G (p.Ser253Ala)
|
rs764781840
|
0.00001
|
|
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)
|
rs199472720
|
0.00001
|
|
NM_000218.3(KCNQ1):c.796C>A (p.Leu266Met)
|
rs1263583359
|
0.00001
|
|
NM_000218.3(KCNQ1):c.802A>G (p.Ile268Val)
|
rs757421492
|
0.00001
|
|
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)
|
rs199472730
|
0.00001
|
|
NM_000218.3(KCNQ1):c.861G>A (p.Ala287=)
|
rs764403483
|
0.00001
|
|
NM_000218.3(KCNQ1):c.867C>T (p.Asn289=)
|
rs1262523905
|
0.00001
|
|
NM_000218.3(KCNQ1):c.880G>A (p.Val294Met)
|
rs749073770
|
0.00001
|
|
NM_000218.3(KCNQ1):c.888C>T (p.Phe296=)
|
rs768506433
|
0.00001
|
|
NM_000218.3(KCNQ1):c.897C>T (p.Tyr299=)
|
rs373183513
|
0.00001
|
|
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)
|
rs120074186
|
0.00001
|
|
NM_000218.3(KCNQ1):c.939C>T (p.Ile313=)
|
rs199472747
|
0.00001
|
|
NM_000218.3(KCNQ1):c.999T>G (p.Ser333=)
|
rs769230282
|
0.00001
|
|
NM_000238.4(KCNH2):c.1035C>T (p.Gly345=)
|
rs576125279
|
0.00001
|
|
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu)
|
rs759134380
|
0.00001
|
|
NM_000238.4(KCNH2):c.1054C>T (p.Pro352Ser)
|
rs1801408471
|
0.00001
|
|
NM_000238.4(KCNH2):c.1066C>T (p.Arg356Cys)
|
rs772689518
|
0.00001
|
|
NM_000238.4(KCNH2):c.1099A>T (p.Thr367Ser)
|
rs199472890
|
0.00001
|
|
NM_000238.4(KCNH2):c.1128+1777C>T
|
rs201405651
|
0.00001
|
|
NM_000238.4(KCNH2):c.1128+1803G>T
|
rs553291120
|
0.00001
|
|
NM_000238.4(KCNH2):c.1128+1810C>T
|
rs972201049
|
0.00001
|
|
NM_000238.4(KCNH2):c.1128+1820_1128+1821del
|
rs1064794494
|
0.00001
|
|
NM_000238.4(KCNH2):c.1128+1860C>T
|
rs767264288
|
0.00001
|
|
NM_000238.4(KCNH2):c.1128+1861G>A
|
rs41311009
|
0.00001
|
|
NM_000238.4(KCNH2):c.1128+1870G>A
|
rs1219643674
|
0.00001
|
|
NM_000238.4(KCNH2):c.1143C>T (p.Gly381=)
|
rs1452623581
|
0.00001
|
|
NM_000238.4(KCNH2):c.1146C>T (p.Ala382=)
|
rs202147325
|
0.00001
|
|
NM_000238.4(KCNH2):c.1164C>T (p.Tyr388=)
|
rs775391226
|
0.00001
|
|
NM_000238.4(KCNH2):c.1190G>A (p.Arg397His)
|
rs368817970
|
0.00001
|
|
NM_000238.4(KCNH2):c.1224C>T (p.Ala408=)
|
rs372318358
|
0.00001
|
|
NM_000238.4(KCNH2):c.1263G>A (p.Thr421=)
|
rs368109121
|
0.00001
|
|
NM_000238.4(KCNH2):c.1319C>T (p.Pro440Leu)
|
rs199473509
|
0.00001
|
|
NM_000238.4(KCNH2):c.1329C>T (p.Thr443=)
|
rs754215143
|
0.00001
|
|
NM_000238.4(KCNH2):c.132C>T (p.Cys44=)
|
rs199472838
|
0.00001
|
|
NM_000238.4(KCNH2):c.1330G>A (p.Glu444Lys)
|
rs201268831
|
0.00001
|
|
NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu)
|
rs199472902
|
0.00001
|
|
NM_000238.4(KCNH2):c.138C>G (p.Asp46Glu)
|
rs752503743
|
0.00001
|
|
NM_000238.4(KCNH2):c.1404C>T (p.Leu468=)
|
rs1448964607
|
0.00001
|
|
NM_000238.4(KCNH2):c.1426G>A (p.Val476Ile)
|
rs199472908
|
0.00001
|
|
NM_000238.4(KCNH2):c.1447G>A (p.Val483Ile)
|
rs755834128
|
0.00001
|
|
NM_000238.4(KCNH2):c.1470C>T (p.Ala490=)
|
rs1228965902
|
0.00001
|
|
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr)
|
rs199472910
|
0.00001
|
|
NM_000238.4(KCNH2):c.1476C>T (p.His492=)
|
rs1801213900
|
0.00001
|
|
NM_000238.4(KCNH2):c.1557+6G>A
|
rs746174154
|
0.00001
|
|
NM_000238.4(KCNH2):c.1558-8T>A
|
rs1032007159
|
0.00001
|
|
NM_000238.4(KCNH2):c.1582C>T (p.Arg528Trp)
|
rs864622403
|
0.00001
|
|
NM_000238.4(KCNH2):c.1621C>T (p.Arg541Cys)
|
rs764666519
|
0.00001
|
|
NM_000238.4(KCNH2):c.1639G>A (p.Ala547Thr)
|
rs376021230
|
0.00001
|
|
NM_000238.4(KCNH2):c.1640C>T (p.Ala547Val)
|
rs1473812774
|
0.00001
|
|
NM_000238.4(KCNH2):c.1668C>T (p.Thr556=)
|
rs748266308
|
0.00001
|
|
NM_000238.4(KCNH2):c.1707C>T (p.Tyr569=)
|
rs777831008
|
0.00001
|
|
NM_000238.4(KCNH2):c.1713C>T (p.Ile571=)
|
rs768652751
|
0.00001
|
|
NM_000238.4(KCNH2):c.1725G>A (p.Glu575=)
|
rs764865502
|
0.00001
|
|
NM_000238.4(KCNH2):c.1731A>T (p.Pro577=)
|
rs1438092503
|
0.00001
|
|
NM_000238.4(KCNH2):c.1745G>A (p.Arg582His)
|
rs199473426
|
0.00001
|
|
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)
|
rs199473428
|
0.00001
|
|
NM_000238.4(KCNH2):c.1770C>T (p.Gly590=)
|
rs369187892
|
0.00001
|
|
NM_000238.4(KCNH2):c.1815C>G (p.Pro605=)
|
rs1184158072
|
0.00001
|
|
NM_000238.4(KCNH2):c.1842G>A (p.Ala614=)
|
rs746863761
|
0.00001
|
|
NM_000238.4(KCNH2):c.186A>T (p.Arg62=)
|
rs1313067678
|
0.00001
|
|
NM_000238.4(KCNH2):c.1930G>A (p.Val644Ile)
|
rs199472972
|
0.00001
|
|
NM_000238.4(KCNH2):c.1946-4C>G
|
rs1169211344
|
0.00001
|
|
NM_000238.4(KCNH2):c.1946-8G>A
|
rs1384850938
|
0.00001
|
|
NM_000238.4(KCNH2):c.1968C>T (p.Phe656=)
|
rs1238904019
|
0.00001
|
|
NM_000238.4(KCNH2):c.1980G>A (p.Ser660=)
|
rs774258761
|
0.00001
|
|
NM_000238.4(KCNH2):c.2036G>A (p.Arg679Gln)
|
rs567628192
|
0.00001
|
|
NM_000238.4(KCNH2):c.2046G>C (p.Glu682Asp)
|
rs1338579153
|
0.00001
|
|
NM_000238.4(KCNH2):c.2077C>T (p.Leu693=)
|
rs1380382303
|
0.00001
|
|
NM_000238.4(KCNH2):c.2080C>T (p.Arg694Cys)
|
rs765717858
|
0.00001
|
|
NM_000238.4(KCNH2):c.2109C>T (p.His703=)
|
rs202214833
|
0.00001
|
|
NM_000238.4(KCNH2):c.2121C>T (p.Tyr707=)
|
rs1307528282
|
0.00001
|
|
NM_000238.4(KCNH2):c.2133C>T (p.Ile711=)
|
rs562349092
|
0.00001
|
|
NM_000238.4(KCNH2):c.2167T>G (p.Cys723Gly)
|
rs199472987
|
0.00001
|
|
NM_000238.4(KCNH2):c.2200C>T (p.Arg734Cys)
|
rs143072395
|
0.00001
|
|
NM_000238.4(KCNH2):c.2231G>A (p.Arg744Gln)
|
rs1264176305
|
0.00001
|
|
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)
|
rs199472990
|
0.00001
|
|
NM_000238.4(KCNH2):c.2257G>T (p.Ala753Ser)
|
rs199472991
|
0.00001
|
|
NM_000238.4(KCNH2):c.2265C>T (p.Ala755=)
|
rs144308070
|
0.00001
|
|
NM_000238.4(KCNH2):c.2291C>T (p.Pro764Leu)
|
rs878853773
|
0.00001
|
|
NM_000238.4(KCNH2):c.2292G>A (p.Pro764=)
|
rs766291953
|
0.00001
|
|
NM_000238.4(KCNH2):c.2316T>C (p.Ala772=)
|
rs1013660810
|
0.00001
|
|
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp)
|
rs12720441
|
0.00001
|
|
NM_000238.4(KCNH2):c.2372G>A (p.Arg791Gln)
|
rs770393669
|
0.00001
|
|
NM_000238.4(KCNH2):c.2377G>A (p.Asp793Asn)
|
rs781352799
|
0.00001
|
|
NM_000238.4(KCNH2):c.2379C>T (p.Asp793=)
|
rs147507005
|
0.00001
|
|
NM_000238.4(KCNH2):c.2380G>A (p.Val794Ile)
|
rs565006344
|
0.00001
|
|
NM_000238.4(KCNH2):c.2382C>T (p.Val794=)
|
rs777801910
|
0.00001
|
|
NM_000238.4(KCNH2):c.2385C>T (p.Val795=)
|
rs1161547614
|
0.00001
|
|
NM_000238.4(KCNH2):c.2398+122T>C
|
rs778124384
|
0.00001
|
|
NM_000238.4(KCNH2):c.2398+162A>G
|
rs1246310515
|
0.00001
|
|
NM_000238.4(KCNH2):c.2398+181G>A
|
rs1273637462
|
0.00001
|
|
NM_000238.4(KCNH2):c.2398+210C>T
|
rs1264796799
|
0.00001
|
|
NM_000238.4(KCNH2):c.2398+25G>T
|
rs761167679
|
0.00001
|
|
NM_000238.4(KCNH2):c.2398+58C>G
|
rs774109163
|
0.00001
|
|
NM_000238.4(KCNH2):c.2398+59G>A
|
rs768415161
|
0.00001
|
|
NM_000238.4(KCNH2):c.2398+98G>A
|
rs545247794
|
0.00001
|
|
NM_000238.4(KCNH2):c.2409C>T (p.Asp803=)
|
rs776830887
|
0.00001
|
|
NM_000238.4(KCNH2):c.2445T>C (p.Pro815=)
|
rs375147598
|
0.00001
|
|
NM_000238.4(KCNH2):c.2458G>A (p.Gly820Arg)
|
rs199473001
|
0.00001
|
|
NM_000238.4(KCNH2):c.2530A>G (p.Met844Val)
|
rs754565340
|
0.00001
|
|
NM_000238.4(KCNH2):c.2547C>T (p.Ser849=)
|
rs543184784
|
0.00001
|
|
NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu)
|
rs763031434
|
0.00001
|
|
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)
|
rs199473432
|
0.00001
|
|
NM_000238.4(KCNH2):c.2673C>T (p.Phe891=)
|
rs776954605
|
0.00001
|
|
NM_000238.4(KCNH2):c.2685G>T (p.Thr895=)
|
rs376008424
|
0.00001
|
|
NM_000238.4(KCNH2):c.2693-5C>T
|
rs1060503992
|
0.00001
|
|
NM_000238.4(KCNH2):c.26C>T (p.Ala9Val)
|
rs775317201
|
0.00001
|
|
NM_000238.4(KCNH2):c.2734C>T (p.Arg912Trp)
|
rs577847157
|
0.00001
|
|
NM_000238.4(KCNH2):c.2764C>T (p.Arg922Trp)
|
rs199473440
|
0.00001
|
|
NM_000238.4(KCNH2):c.2765G>A (p.Arg922Gln)
|
rs199473439
|
0.00001
|
|
NM_000238.4(KCNH2):c.276C>T (p.Arg92=)
|
rs753629014
|
0.00001
|
|
NM_000238.4(KCNH2):c.2778G>A (p.Pro926=)
|
rs898987242
|
0.00001
|
|
NM_000238.4(KCNH2):c.27G>T (p.Ala9=)
|
rs863224336
|
0.00001
|
|
NM_000238.4(KCNH2):c.2823T>C (p.Ser941=)
|
rs1449358173
|
0.00001
|
|
NM_000238.4(KCNH2):c.2832G>T (p.Glu944Asp)
|
rs1232364499
|
0.00001
|
|
NM_000238.4(KCNH2):c.2842C>T (p.Arg948Cys)
|
rs121912514
|
0.00001
|
|
NM_000238.4(KCNH2):c.2854C>T (p.Pro952Ser)
|
rs753735368
|
0.00001
|
|
NM_000238.4(KCNH2):c.2861G>A (p.Arg954His)
|
rs772977598
|
0.00001
|
|
NM_000238.4(KCNH2):c.2893G>A (p.Gly965Arg)
|
rs199473015
|
0.00001
|
|
NM_000238.4(KCNH2):c.2896G>A (p.Glu966Lys)
|
rs781516287
|
0.00001
|
|
NM_000238.4(KCNH2):c.2906G>A (p.Gly969Asp)
|
rs749873669
|
0.00001
|
|
NM_000238.4(KCNH2):c.2954A>G (p.Asn985Ser)
|
rs199473541
|
0.00001
|
|
NM_000238.4(KCNH2):c.2956C>A (p.Pro986Thr)
|
rs1261949255
|
0.00001
|
|
NM_000238.4(KCNH2):c.2968G>A (p.Ala990Thr)
|
rs754362735
|
0.00001
|
|
NM_000238.4(KCNH2):c.2996G>A (p.Ser999Asn)
|
rs974699160
|
0.00001
|
|
NM_000238.4(KCNH2):c.3014G>A (p.Arg1005Gln)
|
rs199473019
|
0.00001
|
|
NM_000238.4(KCNH2):c.3019C>T (p.Arg1007Cys)
|
rs1224504959
|
0.00001
|
|
NM_000238.4(KCNH2):c.3021C>T (p.Arg1007=)
|
rs781317328
|
0.00001
|
|
NM_000238.4(KCNH2):c.307+6A>G
|
rs201872229
|
0.00001
|
|
NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile)
|
rs794728346
|
0.00001
|
|
NM_000238.4(KCNH2):c.3081C>T (p.Leu1027=)
|
rs1438907234
|
0.00001
|
|
NM_000238.4(KCNH2):c.3095G>A (p.Arg1032Gln)
|
rs199473020
|
0.00001
|
|
NM_000238.4(KCNH2):c.3118A>G (p.Ser1040Gly)
|
rs199473024
|
0.00001
|
|
NM_000238.4(KCNH2):c.3211A>G (p.Met1071Val)
|
rs555797304
|
0.00001
|
|
NM_000238.4(KCNH2):c.3215C>T (p.Thr1072Met)
|
rs781624566
|
0.00001
|
|
NM_000238.4(KCNH2):c.3251C>T (p.Pro1084Leu)
|
rs762510312
|
0.00001
|
|
NM_000238.4(KCNH2):c.3276C>T (p.Ser1092=)
|
rs776100082
|
0.00001
|
|
NM_000238.4(KCNH2):c.3288C>T (p.Pro1096=)
|
rs748606749
|
0.00001
|
|
NM_000238.4(KCNH2):c.3294C>G (p.Ser1098Arg)
|
rs1203403811
|
0.00001
|
|
NM_000238.4(KCNH2):c.3343A>G (p.Met1115Val)
|
rs199473546
|
0.00001
|
|
NM_000238.4(KCNH2):c.3355G>C (p.Glu1119Gln)
|
rs199473033
|
0.00001
|
|
NM_000238.4(KCNH2):c.3392G>T (p.Gly1131Val)
|
rs370558996
|
0.00001
|
|
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala)
|
rs786205422
|
0.00001
|
|
NM_000238.4(KCNH2):c.3399A>G (p.Thr1133=)
|
rs746102465
|
0.00001
|
|
NM_000238.4(KCNH2):c.3400C>T (p.Arg1134Ter)
|
rs965259777
|
0.00001
|
|
NM_000238.4(KCNH2):c.3403C>T (p.Arg1135Cys)
|
rs781369850
|
0.00001
|
|
NM_000238.4(KCNH2):c.343G>A (p.Val115Met)
|
rs150988911
|
0.00001
|
|
NM_000238.4(KCNH2):c.3448C>A (p.Leu1150Met)
|
rs754883792
|
0.00001
|
|
NM_000238.4(KCNH2):c.3453C>A (p.His1151Gln)
|
rs531426751
|
0.00001
|
|
NM_000238.4(KCNH2):c.3469C>T (p.Pro1157Ser)
|
rs1449906095
|
0.00001
|
|
NM_000238.4(KCNH2):c.3471G>A (p.Pro1157=)
|
rs562609392
|
0.00001
|
|
NM_000238.4(KCNH2):c.36C>T (p.Asn12=)
|
rs372029645
|
0.00001
|
|
NM_000238.4(KCNH2):c.387C>T (p.Phe129=)
|
rs764831888
|
0.00001
|
|
NM_000238.4(KCNH2):c.38C>A (p.Thr13Asn)
|
rs758978727
|
0.00001
|
|
NM_000238.4(KCNH2):c.423G>A (p.Pro141=)
|
rs148483769
|
0.00001
|
|
NM_000238.4(KCNH2):c.449C>T (p.Pro150Leu)
|
rs866485757
|
0.00001
|
|
NM_000238.4(KCNH2):c.455C>G (p.Thr152Ser)
|
rs794728354
|
0.00001
|
|
NM_000238.4(KCNH2):c.930A>G (p.Pro310=)
|
rs745496986
|
0.00001
|
|
NM_000238.4(KCNH2):c.935G>A (p.Arg312His)
|
rs747313232
|
0.00001
|
|
NM_000238.4(KCNH2):c.950A>G (p.Asn317Ser)
|
rs779027664
|
0.00001
|
|
NM_000238.4(KCNH2):c.957C>T (p.Thr319=)
|
rs759130424
|
0.00001
|
|
NM_000238.4(KCNH2):c.966C>T (p.Ser322=)
|
rs200290864
|
0.00001
|
|
NM_000238.4(KCNH2):c.969C>T (p.Asp323=)
|
rs762912817
|
0.00001
|
|
NM_000238.4(KCNH2):c.972C>T (p.Leu324=)
|
rs146297032
|
0.00001
|
|
NM_000238.4(KCNH2):c.990T>C (p.Ile330=)
|
rs748711437
|
0.00001
|
|
NM_000256.3(MYBPC3):c.-11C>T
|
rs762719022
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1003C>T (p.Arg335Cys)
|
rs730880630
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1009G>A (p.Ala337Thr)
|
rs769830766
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1023C>T (p.Gly341=)
|
rs754469813
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1024G>A (p.Val342Ile)
|
rs397515882
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1033C>T (p.Leu345=)
|
rs1348098603
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His)
|
rs397515883
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=)
|
rs758016271
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His)
|
rs199741162
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1074T>A (p.Asp358Glu)
|
rs775464343
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1091-8G>A
|
rs749622191
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1112C>T (p.Pro371Leu)
|
rs397515887
|
0.00001
|
|
NM_000256.3(MYBPC3):c.112G>A (p.Val38Met)
|
rs1299024877
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1139A>G (p.Lys380Arg)
|
rs1377634776
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met)
|
rs772073491
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1174G>A (p.Ala392Thr)
|
rs1019697151
|
0.00001
|
|
NM_000256.3(MYBPC3):c.11C>T (p.Pro4Leu)
|
rs748689012
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1218C>T (p.Ser406=)
|
rs748558425
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1227-14C>T
|
rs574567658
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1227-2A>G
|
rs730880531
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1227-4C>G
|
rs113628269
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1227-9C>A
|
rs11570079
|
0.00001
|
|
NM_000256.3(MYBPC3):c.122G>A (p.Arg41His)
|
rs764849803
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1282T>C (p.Leu428=)
|
rs758253767
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1287G>A (p.Ala429=)
|
rs778718628
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1316G>A (p.Gly439Asp)
|
rs763045718
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1338G>A (p.Glu446=)
|
rs757182984
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1352-5G>A
|
rs770888201
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1363C>T (p.Leu455Phe)
|
rs747686377
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His)
|
rs374255707
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln)
|
rs776734314
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1433C>T (p.Ser478Leu)
|
rs730880540
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1458-5G>A
|
rs746542705
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met)
|
rs730880543
|
0.00001
|
|
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly)
|
rs373164247
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1545C>T (p.Asn515=)
|
rs771230605
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1554G>A (p.Met518Ile)
|
rs372499440
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1578A>T (p.Ala526=)
|
rs766721220
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1652T>A (p.Ile551Asn)
|
rs1047978195
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1653C>T (p.Ile551=)
|
rs767414501
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr)
|
rs730880692
|
0.00001
|
|
NM_000256.3(MYBPC3):c.166G>A (p.Gly56Ser)
|
rs397515918
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1677G>A (p.Lys559=)
|
rs762369686
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val)
|
rs730880694
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1759G>A (p.Asp587Asn)
|
rs730880526
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His)
|
rs397515923
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1773G>T (p.Lys591Asn)
|
rs754902004
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1778C>T (p.Ser593Phe)
|
rs397515924
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1791-13T>A
|
rs982545302
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1797C>A (p.His599Gln)
|
rs1446676554
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1803G>A (p.Leu601=)
|
rs397515927
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1827C>T (p.Ala609=)
|
rs535853707
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1875G>C (p.Leu625=)
|
rs1249910550
|
0.00001
|
|
NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln)
|
rs549239819
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1897+3G>A
|
rs937023392
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1899G>A (p.Glu633=)
|
rs1206508060
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1927+3A>C
|
rs730880559
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1928-11G>A
|
rs747711596
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1928-3C>T
|
rs1415195455
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1928-6C>T
|
rs780665978
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1935C>T (p.Pro645=)
|
rs727503193
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1944C>T (p.His648=)
|
rs750861887
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1947G>C (p.Leu649=)
|
rs757244311
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1972A>T (p.Thr658Ser)
|
rs950381214
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2002C>T (p.Arg668Cys)
|
rs730880561
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2034T>C (p.Ala678=)
|
rs757832991
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2035C>T (p.Pro679Ser)
|
rs372493586
|
0.00001
|
|
NM_000256.3(MYBPC3):c.206G>A (p.Arg69Gln)
|
rs397515945
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2082A>G (p.Pro694=)
|
rs756589409
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2100T>C (p.Asp700=)
|
rs1565626238
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2124C>T (p.Ser708=)
|
rs113658284
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2126A>T (p.Asp709Val)
|
rs1270219308
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2149-4C>G
|
rs1324005699
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2164G>A (p.Glu722Lys)
|
rs730880696
|
0.00001
|
|
NM_000256.3(MYBPC3):c.216C>A (p.Gly72=)
|
rs760007714
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2170C>T (p.Arg724Trp)
|
rs200399246
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2187C>T (p.Thr729=)
|
rs765983279
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2220G>C (p.Gly740=)
|
rs1451991531
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2241C>T (p.Gly747=)
|
rs755910458
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2250G>A (p.Thr750=)
|
rs373338699
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met)
|
rs369790992
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2273G>A (p.Gly758Asp)
|
rs1163861044
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2289C>T (p.Asn763=)
|
rs777228369
|
0.00001
|
|
NM_000256.3(MYBPC3):c.228G>A (p.Gln76=)
|
rs766359851
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2300A>G (p.Lys767Arg)
|
rs760786216
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2309-4C>T
|
rs942669152
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr)
|
rs368104687
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2327C>T (p.Ala776Val)
|
rs1188736507
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2328G>A (p.Ala776=)
|
rs1448521968
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2330C>T (p.Ala777Val)
|
rs759631792
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2336A>G (p.Lys779Arg)
|
rs774512738
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2345A>G (p.Asn782Ser)
|
rs776351251
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2347G>T (p.Val783Leu)
|
rs1060499878
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2391C>T (p.Tyr797=)
|
rs727504864
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2394T>C (p.Asp798=)
|
rs970928136
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2397C>T (p.Gly799=)
|
rs756512665
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2398G>A (p.Gly800Arg)
|
rs727504574
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2399G>A (p.Gly800Glu)
|
rs1273374175
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2409C>A (p.Ile803=)
|
rs202088839
|
0.00001
|
|
NM_000256.3(MYBPC3):c.240A>G (p.Ala80=)
|
rs770089112
|
0.00001
|
|
NM_000256.3(MYBPC3):c.244A>G (p.Ile82Val)
|
rs1470947124
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2484G>A (p.Glu828=)
|
rs765583270
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2501G>C (p.Arg834Pro)
|
rs540988604
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2526C>T (p.Tyr842=)
|
rs373792537
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2536G>A (p.Val846Ile)
|
rs747774791
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2544G>A (p.Ala848=)
|
rs369904619
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2550C>T (p.Asn850=)
|
rs1387090431
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2551G>A (p.Ala851Thr)
|
rs730880571
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2554A>G (p.Ile852Val)
|
rs2095883374
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2556C>T (p.Ile852=)
|
rs754062873
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2603-10C>T
|
rs765120057
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2605C>T (p.Pro869Ser)
|
rs1219654172
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2613C>T (p.Ser871=)
|
rs531228202
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2641G>A (p.Val881Ile)
|
rs727504360
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2655G>A (p.Thr885=)
|
rs769996102
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2665A>C (p.Lys889Gln)
|
rs970845959
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp)
|
rs727504418
|
0.00001
|
|
NM_000256.3(MYBPC3):c.26T>C (p.Val9Ala)
|
rs1395620536
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2714G>A (p.Ser905Asn)
|
rs397515983
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2716G>A (p.Val906Met)
|
rs774634021
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2723A>G (p.Tyr908Cys)
|
rs397515984
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2737+5G>A
|
rs398123280
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2738-13del
|
rs1198626772
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2771C>T (p.Thr924Ile)
|
rs200406864
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=)
|
rs367980215
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp)
|
rs534366414
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2833C>T (p.Arg945Trp)
|
rs727503183
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2834G>A (p.Arg945Gln)
|
rs1443971720
|
0.00001
|
|
NM_000256.3(MYBPC3):c.283A>C (p.Ile95Leu)
|
rs549758428
|
0.00001
|
|
NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr)
|
rs727504945
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2906-3C>T
|
rs1168532194
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2915G>A (p.Arg972Gln)
|
rs761696555
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys)
|
rs397515994
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2995-5C>G
|
rs376083315
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3037C>G (p.Pro1013Ala)
|
rs965977966
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3048C>T (p.Gly1016=)
|
rs397515998
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3090G>T (p.Leu1030=)
|
rs770351760
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3108C>A (p.Arg1036=)
|
rs747059136
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3109C>T (p.Arg1037Cys)
|
rs758421775
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3110G>A (p.Arg1037His)
|
rs750609594
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3112G>A (p.Val1038Met)
|
rs370223247
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3142C>T (p.Arg1048Cys)
|
rs11570113
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys)
|
rs780449220
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3168C>T (p.Ala1056=)
|
rs373208282
|
0.00001
|
|
NM_000256.3(MYBPC3):c.317C>G (p.Pro106Arg)
|
rs986848670
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3190+2T>G
|
rs113358486
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3197C>G (p.Pro1066Arg)
|
rs2095879154
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3210G>C (p.Gln1070His)
|
rs1164619452
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp)
|
rs368973872
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3223A>G (p.Thr1075Ala)
|
rs767927162
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs)
|
rs397516008
|
0.00001
|
|
NM_000256.3(MYBPC3):c.322C>T (p.Pro108Ser)
|
rs749233808
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3264A>G (p.Pro1088=)
|
rs758229677
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3267C>A (p.Pro1089=)
|
rs745761062
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys)
|
rs727503173
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3284C>T (p.Thr1095Met)
|
rs755653624
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3295G>C (p.Gly1099Arg)
|
rs1064794364
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3328A>G (p.Met1110Val)
|
rs1221557714
|
0.00001
|
|
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val)
|
rs730880530
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3331-2A>C
|
rs869025469
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3342C>T (p.Thr1114=)
|
rs749130484
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys)
|
rs368721523
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3359G>A (p.Arg1120His)
|
rs1297036943
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His)
|
rs397516018
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3372C>T (p.Cys1124=)
|
rs727504289
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3379C>T (p.Pro1127Ser)
|
rs1488618086
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3490+6G>A
|
rs397516021
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3491-14C>A
|
rs1380147625
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3512A>G (p.Asn1171Ser)
|
rs749752972
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3514T>C (p.Tyr1172His)
|
rs1280085255
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3518A>G (p.Lys1173Arg)
|
rs1165270727
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3568C>T (p.Arg1190Cys)
|
rs755160084
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3572C>T (p.Ser1191Leu)
|
rs761545914
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3579C>T (p.Ile1193=)
|
rs541204647
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3605G>C (p.Cys1202Ser)
|
rs727503170
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3628-35G>C
|
rs1317430645
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)
|
rs368765949
|
0.00001
|
|
NM_000256.3(MYBPC3):c.364G>A (p.Ala122Thr)
|
rs754633960
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3654C>T (p.Gly1218=)
|
rs374755212
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3673G>A (p.Ala1225Thr)
|
rs1278226452
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)
|
rs397516037
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3705G>A (p.Val1235=)
|
rs397516036
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3747C>G (p.Gly1249=)
|
rs772872595
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3750C>G (p.Ile1250Met)
|
rs770102135
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)
|
rs727503167
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3780C>T (p.Gly1260=)
|
rs779312310
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3781G>A (p.Glu1261Lys)
|
rs730880141
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=)
|
rs1255638075
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)
|
rs397516042
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln)
|
rs762225417
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3815-10T>G
|
rs397516043
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3815-12C>T
|
rs764320767
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3824G>A (p.Ter1275=)
|
rs1378278382
|
0.00001
|
|
NM_000256.3(MYBPC3):c.393C>A (p.Ala131=)
|
rs1180272933
|
0.00001
|
|
NM_000256.3(MYBPC3):c.394C>T (p.Pro132Ser)
|
rs1042129854
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3G>A (p.Met1Ile)
|
rs397516045
|
0.00001
|
|
NM_000256.3(MYBPC3):c.408G>C (p.Gly136=)
|
rs1057520977
|
0.00001
|
|
NM_000256.3(MYBPC3):c.418G>C (p.Ala140Pro)
|
rs730880614
|
0.00001
|
|
NM_000256.3(MYBPC3):c.41A>G (p.Lys14Arg)
|
rs779049126
|
0.00001
|
|
NM_000256.3(MYBPC3):c.434C>A (p.Pro145His)
|
rs768309693
|
0.00001
|
|
NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro)
|
rs397516048
|
0.00001
|
|
NM_000256.3(MYBPC3):c.451G>A (p.Asp151Asn)
|
rs397516051
|
0.00001
|
|
NM_000256.3(MYBPC3):c.467T>C (p.Leu156Pro)
|
rs730880616
|
0.00001
|
|
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp)
|
rs730880619
|
0.00001
|
|
NM_000256.3(MYBPC3):c.505+6T>C
|
rs397516055
|
0.00001
|
|
NM_000256.3(MYBPC3):c.517A>G (p.Thr173Ala)
|
rs727505168
|
0.00001
|
|
NM_000256.3(MYBPC3):c.547C>T (p.Leu183Phe)
|
rs1293264960
|
0.00001
|
|
NM_000256.3(MYBPC3):c.549C>T (p.Leu183=)
|
rs368604485
|
0.00001
|
|
NM_000256.3(MYBPC3):c.567C>G (p.Val189=)
|
rs1290069260
|
0.00001
|
|
NM_000256.3(MYBPC3):c.570G>A (p.Lys190=)
|
rs932721415
|
0.00001
|
|
NM_000256.3(MYBPC3):c.602G>A (p.Ser201Asn)
|
rs1395414085
|
0.00001
|
|
NM_000256.3(MYBPC3):c.631G>A (p.Asp211Asn)
|
rs773414747
|
0.00001
|
|
NM_000256.3(MYBPC3):c.651C>T (p.Ser217=)
|
rs1199611247
|
0.00001
|
|
NM_000256.3(MYBPC3):c.655-15C>A
|
rs188327777
|
0.00001
|
|
NM_000256.3(MYBPC3):c.681C>T (p.Thr227=)
|
rs756894628
|
0.00001
|
|
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu)
|
rs886039000
|
0.00001
|
|
NM_000256.3(MYBPC3):c.73A>T (p.Ser25Cys)
|
rs749970304
|
0.00001
|
|
NM_000256.3(MYBPC3):c.773-13C>A
|
rs1394988381
|
0.00001
|
|
NM_000256.3(MYBPC3):c.773-14C>T
|
rs752062035
|
0.00001
|
|
NM_000256.3(MYBPC3):c.804A>G (p.Leu268=)
|
rs1595848596
|
0.00001
|
|
NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys)
|
rs551119259
|
0.00001
|
|
NM_000256.3(MYBPC3):c.81C>T (p.Ala27=)
|
rs761547225
|
0.00001
|
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
|
NM_000256.3(MYBPC3):c.821C>T (p.Thr274Met)
|
rs748746951
|
0.00001
|
|
NM_000256.3(MYBPC3):c.822-3C>T
|
rs730880628
|
0.00001
|
|
NM_000256.3(MYBPC3):c.822-5C>G
|
rs764381544
|
0.00001
|
|
NM_000256.3(MYBPC3):c.823A>T (p.Ser275Cys)
|
rs1224529304
|
0.00001
|
|
NM_000256.3(MYBPC3):c.845G>A (p.Arg282Gln)
|
rs761520688
|
0.00001
|
|
NM_000256.3(MYBPC3):c.851+2T>C
|
rs1194615408
|
0.00001
|
|
NM_000256.3(MYBPC3):c.852-6C>T
|
rs397516078
|
0.00001
|
|
NM_000256.3(MYBPC3):c.859C>T (p.His287Tyr)
|
rs776238883
|
0.00001
|
|
NM_000256.3(MYBPC3):c.87C>T (p.Phe29=)
|
rs764557472
|
0.00001
|
|
NM_000256.3(MYBPC3):c.886A>G (p.Ser296Gly)
|
rs768164989
|
0.00001
|
|
NM_000256.3(MYBPC3):c.906-11C>T
|
rs1296550753
|
0.00001
|
|
NM_000256.3(MYBPC3):c.906-13T>C
|
rs730881219
|
0.00001
|
|
NM_000256.3(MYBPC3):c.906-8T>C
|
rs370245341
|
0.00001
|
|
NM_000256.3(MYBPC3):c.908+3A>G
|
rs2095895009
|
0.00001
|
|
NM_000256.3(MYBPC3):c.923C>T (p.Pro308Leu)
|
rs1330127507
|
0.00001
|
|
NM_000256.3(MYBPC3):c.926+1G>A
|
rs767239679
|
0.00001
|
|
NM_000256.3(MYBPC3):c.950C>T (p.Ala317Val)
|
rs1281956829
|
0.00001
|
|
NM_000257.4(MYH7):c.1045A>G (p.Met349Val)
|
rs730880730
|
0.00001
|
|
NM_000257.4(MYH7):c.1065C>T (p.Ala355=)
|
rs778136999
|
0.00001
|
|
NM_000257.4(MYH7):c.1083C>T (p.Asn361=)
|
rs145091844
|
0.00001
|
|
NM_000257.4(MYH7):c.1089G>A (p.Lys363=)
|
rs2231125
|
0.00001
|
|
NM_000257.4(MYH7):c.1110G>A (p.Glu370=)
|
rs1060504232
|
0.00001
|
|
NM_000257.4(MYH7):c.1118C>T (p.Ala373Val)
|
rs730880924
|
0.00001
|
|
NM_000257.4(MYH7):c.1119G>A (p.Ala373=)
|
rs572672362
|
0.00001
|
|
NM_000257.4(MYH7):c.1129G>C (p.Gly377Arg)
|
rs773599095
|
0.00001
|
|
NM_000257.4(MYH7):c.1139-14C>T
|
rs397516091
|
0.00001
|
|
NM_000257.4(MYH7):c.1139-4C>T
|
rs886050422
|
0.00001
|
|
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile)
|
rs730880868
|
0.00001
|
|
NM_000257.4(MYH7):c.124G>A (p.Asp42Asn)
|
rs780785242
|
0.00001
|
|
NM_000257.4(MYH7):c.1272T>A (p.Thr424=)
|
rs1555338337
|
0.00001
|
|
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)
|
rs148808089
|
0.00001
|
|
NM_000257.4(MYH7):c.1338C>T (p.Thr446=)
|
rs147327560
|
0.00001
|
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
|
NM_000257.4(MYH7):c.1404C>T (p.Phe468=)
|
rs140218676
|
0.00001
|
|
NM_000257.4(MYH7):c.1407+4A>C
|
rs373043783
|
0.00001
|
|
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
|
rs267606911
|
0.00001
|
|
NM_000257.4(MYH7):c.1551G>A (p.Leu517=)
|
rs1353466701
|
0.00001
|
|
NM_000257.4(MYH7):c.160C>T (p.Arg54Ter)
|
rs761841748
|
0.00001
|
|
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala)
|
rs397516119
|
0.00001
|
|
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn)
|
rs564101364
|
0.00001
|
|
NM_000257.4(MYH7):c.1668C>T (p.His556=)
|
rs765643812
|
0.00001
|
|
NM_000257.4(MYH7):c.1678T>A (p.Ser560Thr)
|
rs1892754005
|
0.00001
|
|
NM_000257.4(MYH7):c.1681G>A (p.Ala561Thr)
|
rs730880878
|
0.00001
|
|
NM_000257.4(MYH7):c.1684A>G (p.Asn562Asp)
|
rs397516118
|
0.00001
|
|
NM_000257.4(MYH7):c.1699C>T (p.Arg567Cys)
|
rs771771163
|
0.00001
|
|
NM_000257.4(MYH7):c.1749C>T (p.Ala583=)
|
rs758665829
|
0.00001
|
|
NM_000257.4(MYH7):c.1756G>A (p.Val586Met)
|
rs754465530
|
0.00001
|
|
NM_000257.4(MYH7):c.1772T>C (p.Ile591Thr)
|
rs775089432
|
0.00001
|
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
|
NM_000257.4(MYH7):c.1857C>T (p.Thr619=)
|
rs770770421
|
0.00001
|
|
NM_000257.4(MYH7):c.1886C>T (p.Ala629Val)
|
rs140824103
|
0.00001
|
|
NM_000257.4(MYH7):c.1889-11C>T
|
rs771303267
|
0.00001
|
|
NM_000257.4(MYH7):c.1903A>T (p.Lys635Ter)
|
rs1430156584
|
0.00001
|
|
NM_000257.4(MYH7):c.1926G>A (p.Ser642=)
|
rs397516126
|
0.00001
|
|
NM_000257.4(MYH7):c.2039C>T (p.Ser680Phe)
|
rs1175481910
|
0.00001
|
|
NM_000257.4(MYH7):c.2044+4A>G
|
rs780521910
|
0.00001
|
|
NM_000257.4(MYH7):c.2060C>A (p.Pro687His)
|
rs747382784
|
0.00001
|
|
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)
|
rs727504240
|
0.00001
|
|
NM_000257.4(MYH7):c.2106C>A (p.Ile702=)
|
rs1389668407
|
0.00001
|
|
NM_000257.4(MYH7):c.2137A>G (p.Ile713Val)
|
rs1339799654
|
0.00001
|
|
NM_000257.4(MYH7):c.2148G>C (p.Gly716=)
|
rs755760309
|
0.00001
|
|
NM_000257.4(MYH7):c.2172C>A (p.Ile724=)
|
rs752943580
|
0.00001
|
|
NM_000257.4(MYH7):c.2208T>C (p.Ile736=)
|
rs772879885
|
0.00001
|
|
NM_000257.4(MYH7):c.2226A>G (p.Ala742=)
|
rs1469321541
|
0.00001
|
|
NM_000257.4(MYH7):c.2232G>A (p.Lys744=)
|
rs747848184
|
0.00001
|
|
NM_000257.4(MYH7):c.2244C>T (p.Ser748=)
|
rs1439599919
|
0.00001
|
|
NM_000257.4(MYH7):c.2286G>A (p.Lys762=)
|
rs958169569
|
0.00001
|
|
NM_000257.4(MYH7):c.22G>A (p.Val8Ile)
|
rs754388460
|
0.00001
|
|
NM_000257.4(MYH7):c.2352C>T (p.Ile784=)
|
rs397516143
|
0.00001
|
|
NM_000257.4(MYH7):c.2355C>T (p.Ile785=)
|
rs1892652131
|
0.00001
|
|
NM_000257.4(MYH7):c.2484C>G (p.Pro828=)
|
rs1555337746
|
0.00001
|
|
NM_000257.4(MYH7):c.2499C>T (p.Tyr833=)
|
rs397516151
|
0.00001
|
|
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met)
|
rs772442923
|
0.00001
|
|
NM_000257.4(MYH7):c.252C>T (p.Phe84=)
|
rs267603955
|
0.00001
|
|
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln)
|
rs730880748
|
0.00001
|
|
NM_000257.4(MYH7):c.253G>A (p.Asp85Asn)
|
rs770246266
|
0.00001
|
|
NM_000257.4(MYH7):c.2556G>A (p.Met852Ile)
|
rs1343088568
|
0.00001
|
|
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile)
|
rs397516158
|
0.00001
|
|
NM_000257.4(MYH7):c.2573G>A (p.Arg858His)
|
rs2856897
|
0.00001
|
|
NM_000257.4(MYH7):c.2586G>A (p.Ala862=)
|
rs112677962
|
0.00001
|
|
NM_000257.4(MYH7):c.2597C>A (p.Ser866Tyr)
|
rs1473607930
|
0.00001
|
|
NM_000257.4(MYH7):c.2598C>T (p.Ser866=)
|
rs1202278618
|
0.00001
|
|
NM_000257.4(MYH7):c.2638C>T (p.Leu880=)
|
rs748621952
|
0.00001
|
|
NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr)
|
rs750204313
|
0.00001
|
|
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)
|
rs397516161
|
0.00001
|
|
NM_000257.4(MYH7):c.2692C>T (p.Leu898=)
|
rs727504407
|
0.00001
|
|
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)
|
rs267606908
|
0.00001
|
|
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)
|
rs121913631
|
0.00001
|
|
NM_000257.4(MYH7):c.2727C>A (p.Ile909=)
|
rs377722048
|
0.00001
|
|
NM_000257.4(MYH7):c.2765T>C (p.Met922Thr)
|
rs771599539
|
0.00001
|
|
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)
|
rs730880761
|
0.00001
|
|
NM_000257.4(MYH7):c.2846A>T (p.Glu949Val)
|
rs397516175
|
0.00001
|
|
NM_000257.4(MYH7):c.2852A>G (p.Lys951Arg)
|
rs1230261713
|
0.00001
|
|
NM_000257.4(MYH7):c.2862C>T (p.Ile954=)
|
rs982198020
|
0.00001
|
|
NM_000257.4(MYH7):c.2908G>A (p.Ala970Thr)
|
rs1446657813
|
0.00001
|
|
NM_000257.4(MYH7):c.2922+3A>G
|
rs1227114881
|
0.00001
|
|
NM_000257.4(MYH7):c.2922+6G>C
|
rs781192476
|
0.00001
|
|
NM_000257.4(MYH7):c.2923-6C>T
|
rs587781082
|
0.00001
|
|
NM_000257.4(MYH7):c.2923-7T>A
|
rs746915271
|
0.00001
|
|
NM_000257.4(MYH7):c.2973G>T (p.Lys991Asn)
|
rs727504388
|
0.00001
|
|
NM_000257.4(MYH7):c.2974C>A (p.Leu992Met)
|
rs149840927
|
0.00001
|
|
NM_000257.4(MYH7):c.2981A>G (p.Lys994Arg)
|
rs1298804415
|
0.00001
|
|
NM_000257.4(MYH7):c.300G>A (p.Ala100=)
|
rs757141502
|
0.00001
|
|
NM_000257.4(MYH7):c.3010C>G (p.Gln1004Glu)
|
rs730880762
|
0.00001
|
|
NM_000257.4(MYH7):c.3042G>A (p.Glu1014=)
|
rs1471909495
|
0.00001
|
|
NM_000257.4(MYH7):c.3079C>T (p.Leu1027=)
|
rs763501840
|
0.00001
|
|
NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr)
|
rs1159928168
|
0.00001
|
|
NM_000257.4(MYH7):c.3114G>A (p.Leu1038=)
|
rs1892507072
|
0.00001
|
|
NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile)
|
rs201195256
|
0.00001
|
|
NM_000257.4(MYH7):c.3147G>A (p.Glu1049=)
|
rs1216521596
|
0.00001
|
|
NM_000257.4(MYH7):c.3148C>T (p.Arg1050Ter)
|
rs730880767
|
0.00001
|
|
NM_000257.4(MYH7):c.3152C>T (p.Ala1051Val)
|
rs727504358
|
0.00001
|
|
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)
|
rs397516179
|
0.00001
|
|
NM_000257.4(MYH7):c.3171C>T (p.Gly1057=)
|
rs758822596
|
0.00001
|
|
NM_000257.4(MYH7):c.3200T>C (p.Met1067Thr)
|
rs763564858
|
0.00001
|
|
NM_000257.4(MYH7):c.3216C>T (p.Asp1072=)
|
rs146256500
|
0.00001
|
|
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)
|
rs192722540
|
0.00001
|
|
NM_000257.4(MYH7):c.3245+3A>T
|
rs727505355
|
0.00001
|
|
NM_000257.4(MYH7):c.3259C>T (p.Leu1087=)
|
rs1299689855
|
0.00001
|
|
NM_000257.4(MYH7):c.3274G>A (p.Ala1092Thr)
|
rs772216320
|
0.00001
|
|
NM_000257.4(MYH7):c.3300C>T (p.Leu1100=)
|
rs1266310347
|
0.00001
|
|
NM_000257.4(MYH7):c.3306C>T (p.Ser1102=)
|
rs1359993614
|
0.00001
|
|
NM_000257.4(MYH7):c.3341G>A (p.Arg1114His)
|
rs730880773
|
0.00001
|
|
NM_000257.4(MYH7):c.3402G>A (p.Lys1134=)
|
rs587781083
|
0.00001
|
|
NM_000257.4(MYH7):c.3407G>A (p.Arg1136His)
|
rs730880905
|
0.00001
|
|
NM_000257.4(MYH7):c.343T>C (p.Tyr115His)
|
rs397516183
|
0.00001
|
|
NM_000257.4(MYH7):c.3451G>C (p.Glu1151Gln)
|
rs1370927693
|
0.00001
|
|
NM_000257.4(MYH7):c.3474C>T (p.Ser1158=)
|
rs587780395
|
0.00001
|
|
NM_000257.4(MYH7):c.3483C>G (p.Ile1161Met)
|
rs778909719
|
0.00001
|
|
NM_000257.4(MYH7):c.3500G>A (p.Arg1167His)
|
rs766412659
|
0.00001
|
|
NM_000257.4(MYH7):c.3567C>T (p.Ala1189=)
|
rs1165812799
|
0.00001
|
|
NM_000257.4(MYH7):c.3589G>A (p.Ala1197Thr)
|
rs1487430775
|
0.00001
|
|
NM_000257.4(MYH7):c.3591C>T (p.Ala1197=)
|
rs901079585
|
0.00001
|
|
NM_000257.4(MYH7):c.3598G>A (p.Val1200Met)
|
rs375283149
|
0.00001
|
|
NM_000257.4(MYH7):c.3603C>G (p.Ala1201=)
|
rs201576345
|
0.00001
|
|
NM_000257.4(MYH7):c.3682C>T (p.Leu1228=)
|
rs560995739
|
0.00001
|
|
NM_000257.4(MYH7):c.36C>T (p.Ala12=)
|
rs766884630
|
0.00001
|
|
NM_000257.4(MYH7):c.3701A>C (p.Asn1234Thr)
|
rs745970387
|
0.00001
|
|
NM_000257.4(MYH7):c.3774G>A (p.Glu1258=)
|
rs199653953
|
0.00001
|
|
NM_000257.4(MYH7):c.3778C>T (p.Arg1260Trp)
|
rs755386220
|
0.00001
|
|
NM_000257.4(MYH7):c.3781A>C (p.Ser1261Arg)
|
rs193922389
|
0.00001
|
|
NM_000257.4(MYH7):c.3786G>A (p.Lys1262=)
|
rs45497796
|
0.00001
|
|
NM_000257.4(MYH7):c.37G>A (p.Ala13Thr)
|
rs759231966
|
0.00001
|
|
NM_000257.4(MYH7):c.3801G>C (p.Gln1267His)
|
rs200000290
|
0.00001
|
|
NM_000257.4(MYH7):c.3813C>T (p.Asn1271=)
|
rs767389598
|
0.00001
|
|
NM_000257.4(MYH7):c.3828G>C (p.Gln1276His)
|
rs1892377170
|
0.00001
|
|
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln)
|
rs397516195
|
0.00001
|
|
NM_000257.4(MYH7):c.3852T>C (p.Asn1284=)
|
rs45565337
|
0.00001
|
|
NM_000257.4(MYH7):c.3854-11T>C
|
rs1181864990
|
0.00001
|
|
NM_000257.4(MYH7):c.3856G>A (p.Glu1286Lys)
|
rs397516196
|
0.00001
|
|
NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp)
|
rs180824037
|
0.00001
|
|
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=)
|
rs886050419
|
0.00001
|
|
NM_000257.4(MYH7):c.3975G>A (p.Ala1325=)
|
rs1424491117
|
0.00001
|
|
NM_000257.4(MYH7):c.3977A>G (p.Lys1326Arg)
|
rs730880786
|
0.00001
|
|
NM_000257.4(MYH7):c.3994G>A (p.Ala1332Thr)
|
rs397516198
|
0.00001
|
|
NM_000257.4(MYH7):c.4004C>T (p.Ser1335Leu)
|
rs397516199
|
0.00001
|
|
NM_000257.4(MYH7):c.4009C>T (p.Arg1337Trp)
|
rs763326046
|
0.00001
|
|
NM_000257.4(MYH7):c.4020C>T (p.Cys1340=)
|
rs374499515
|
0.00001
|
|
NM_000257.4(MYH7):c.4021G>A (p.Asp1341Asn)
|
rs746724436
|
0.00001
|
|
NM_000257.4(MYH7):c.4023C>A (p.Asp1341Glu)
|
rs775285385
|
0.00001
|
|
NM_000257.4(MYH7):c.4041C>T (p.Tyr1347=)
|
rs1199930760
|
0.00001
|
|
NM_000257.4(MYH7):c.4042G>A (p.Glu1348Lys)
|
rs1275262402
|
0.00001
|
|
NM_000257.4(MYH7):c.4057G>T (p.Ala1353Ser)
|
rs1892314426
|
0.00001
|
|
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)
|
rs727503246
|
0.00001
|
|
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys)
|
rs45451303
|
0.00001
|
|
NM_000257.4(MYH7):c.4102G>A (p.Val1368Met)
|
rs771892152
|
0.00001
|
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
|
NM_000257.4(MYH7):c.4180G>A (p.Ala1394Thr)
|
rs751075815
|
0.00001
|
|
NM_000257.4(MYH7):c.4186C>T (p.Arg1396Trp)
|
rs730880793
|
0.00001
|
|
NM_000257.4(MYH7):c.4213G>A (p.Glu1405Lys)
|
rs1431555615
|
0.00001
|
|
NM_000257.4(MYH7):c.4219G>A (p.Val1407Ile)
|
rs730880795
|
0.00001
|
|
NM_000257.4(MYH7):c.4227C>G (p.Ala1409=)
|
rs148788346
|
0.00001
|
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
|
NM_000257.4(MYH7):c.4301G>A (p.Arg1434His)
|
rs780625785
|
0.00001
|
|
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)
|
rs745414245
|
0.00001
|
|
NM_000257.4(MYH7):c.4326G>A (p.Leu1442=)
|
rs727503243
|
0.00001
|
|
NM_000257.4(MYH7):c.4343A>T (p.Asn1448Ile)
|
rs753484341
|
0.00001
|
|
NM_000257.4(MYH7):c.4353+6C>T
|
rs765398896
|
0.00001
|
|
NM_000257.4(MYH7):c.4354-15C>T
|
rs1175603569
|
0.00001
|
|
NM_000257.4(MYH7):c.4354-5G>A
|
rs950409210
|
0.00001
|
|
NM_000257.4(MYH7):c.4390C>T (p.Gln1464Ter)
|
rs754829218
|
0.00001
|
|
NM_000257.4(MYH7):c.4394C>T (p.Ser1465Leu)
|
rs1033511138
|
0.00001
|
|
NM_000257.4(MYH7):c.4459G>A (p.Ala1487Thr)
|
rs766909770
|
0.00001
|
|
NM_000257.4(MYH7):c.4481A>T (p.His1494Leu)
|
rs727505329
|
0.00001
|
|
NM_000257.4(MYH7):c.4520-3C>T
|
rs549509054
|
0.00001
|
|
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu)
|
rs397516221
|
0.00001
|
|
NM_000257.4(MYH7):c.4530C>T (p.Ser1510=)
|
rs755246527
|
0.00001
|
|
NM_000257.4(MYH7):c.453G>A (p.Pro151=)
|
rs777382773
|
0.00001
|
|
NM_000257.4(MYH7):c.4572T>C (p.His1524=)
|
rs1246893810
|
0.00001
|
|
NM_000257.4(MYH7):c.4587C>A (p.Val1529=)
|
rs148054271
|
0.00001
|
|
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
|
rs397516225
|
0.00001
|
|
NM_000257.4(MYH7):c.4606G>A (p.Glu1536Lys)
|
rs779315151
|
0.00001
|
|
NM_000257.4(MYH7):c.4644+3G>A
|
rs397516226
|
0.00001
|
|
NM_000257.4(MYH7):c.4659C>T (p.His1553=)
|
rs570079347
|
0.00001
|
|
NM_000257.4(MYH7):c.4671G>A (p.Lys1557=)
|
rs200601164
|
0.00001
|
|
NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln)
|
rs730880806
|
0.00001
|
|
NM_000257.4(MYH7):c.4689G>A (p.Leu1563=)
|
rs770477774
|
0.00001
|
|
NM_000257.4(MYH7):c.4698C>T (p.Asn1566=)
|
rs1217251362
|
0.00001
|
|
NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys)
|
rs750987717
|
0.00001
|
|
NM_000257.4(MYH7):c.4725G>A (p.Lys1575=)
|
rs45476496
|
0.00001
|
|
NM_000257.4(MYH7):c.4763G>A (p.Arg1588His)
|
rs797044600
|
0.00001
|
|
NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln)
|
rs1257980330
|
0.00001
|
|
NM_000257.4(MYH7):c.4787C>T (p.Ser1596Leu)
|
rs774540446
|
0.00001
|
|
NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)
|
rs730880809
|
0.00001
|
|
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys)
|
rs200530211
|
0.00001
|
|
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His)
|
rs373514686
|
0.00001
|
|
NM_000257.4(MYH7):c.4822C>T (p.Arg1608Cys)
|
rs746571601
|
0.00001
|
|
NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val)
|
rs757090529
|
0.00001
|
|
NM_000257.4(MYH7):c.4864C>T (p.Leu1622Phe)
|
rs397516231
|
0.00001
|
|
NM_000257.4(MYH7):c.4890C>T (p.Ser1630=)
|
rs1378184837
|
0.00001
|
|
NM_000257.4(MYH7):c.4911C>T (p.Ala1637=)
|
rs151113658
|
0.00001
|
|
NM_000257.4(MYH7):c.493A>G (p.Met165Val)
|
rs730880839
|
0.00001
|
|
NM_000257.4(MYH7):c.4941G>A (p.Gln1647=)
|
rs749154313
|
0.00001
|
|
NM_000257.4(MYH7):c.4948T>C (p.Leu1650=)
|
rs1342070817
|
0.00001
|
|
NM_000257.4(MYH7):c.4953+5T>C
|
rs1008225259
|
0.00001
|
|
NM_000257.4(MYH7):c.4965T>C (p.Ile1655=)
|
rs886039010
|
0.00001
|
|
NM_000257.4(MYH7):c.4984C>T (p.Arg1662Cys)
|
rs773977507
|
0.00001
|
|
NM_000257.4(MYH7):c.4992C>T (p.Asn1664=)
|
rs763538103
|
0.00001
|
|
NM_000257.4(MYH7):c.4995C>T (p.Asp1665=)
|
rs1424110818
|
0.00001
|
|
NM_000257.4(MYH7):c.5011A>G (p.Ile1671Val)
|
rs1456418703
|
0.00001
|
|
NM_000257.4(MYH7):c.5014G>A (p.Ala1672Thr)
|
rs550015662
|
0.00001
|
|
NM_000257.4(MYH7):c.5019C>T (p.Ile1673=)
|
rs139518691
|
0.00001
|
|
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp)
|
rs753115999
|
0.00001
|
|
NM_000257.4(MYH7):c.5029C>T (p.Arg1677Cys)
|
rs377461670
|
0.00001
|
|
NM_000257.4(MYH7):c.503-8C>A
|
rs606231313
|
0.00001
|
|
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His)
|
rs730880914
|
0.00001
|
|
NM_000257.4(MYH7):c.5062T>C (p.Leu1688=)
|
rs768580382
|
0.00001
|
|
NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys)
|
rs730880915
|
0.00001
|
|
NM_000257.4(MYH7):c.5066G>A (p.Arg1689His)
|
rs772008016
|
0.00001
|
|
NM_000257.4(MYH7):c.50G>A (p.Arg17His)
|
rs727503280
|
0.00001
|
|
NM_000257.4(MYH7):c.5120T>C (p.Ile1707Thr)
|
rs730880811
|
0.00001
|
|
NM_000257.4(MYH7):c.5127T>C (p.Thr1709=)
|
rs760420056
|
0.00001
|
|
NM_000257.4(MYH7):c.5129G>C (p.Ser1710Thr)
|
rs869279274
|
0.00001
|
|
NM_000257.4(MYH7):c.5158-12C>T
|
rs1020453843
|
0.00001
|
|
NM_000257.4(MYH7):c.5178G>A (p.Gln1726=)
|
rs747252861
|
0.00001
|
|
NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr)
|
rs144066768
|
0.00001
|
|
NM_000257.4(MYH7):c.5216C>T (p.Thr1739Ile)
|
rs1469341108
|
0.00001
|
|
NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp)
|
rs149509691
|
0.00001
|
|
NM_000257.4(MYH7):c.5251G>A (p.Ala1751Thr)
|
rs1892151210
|
0.00001
|
|
NM_000257.4(MYH7):c.5272G>T (p.Ala1758Ser)
|
rs878853839
|
0.00001
|
|
NM_000257.4(MYH7):c.5293A>G (p.Met1765Val)
|
rs770165807
|
0.00001
|
|
NM_000257.4(MYH7):c.530C>T (p.Thr177Ile)
|
rs752930302
|
0.00001
|
|
NM_000257.4(MYH7):c.531-15C>A
|
rs559147441
|
0.00001
|
|
NM_000257.4(MYH7):c.531-5C>T
|
rs397516243
|
0.00001
|
|
NM_000257.4(MYH7):c.5328C>T (p.Ser1776=)
|
rs765263589
|
0.00001
|
|
NM_000257.4(MYH7):c.5386C>T (p.Arg1796Trp)
|
rs748598020
|
0.00001
|
|
NM_000257.4(MYH7):c.5436G>A (p.Leu1812=)
|
rs1214312955
|
0.00001
|
|
NM_000257.4(MYH7):c.5443C>T (p.Leu1815=)
|
rs1456310241
|
0.00001
|
|
NM_000257.4(MYH7):c.5450C>T (p.Ala1817Val)
|
rs1469786429
|
0.00001
|
|
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr)
|
rs143362532
|
0.00001
|
|
NM_000257.4(MYH7):c.5508G>A (p.Ser1836=)
|
rs754171610
|
0.00001
|
|
NM_000257.4(MYH7):c.5519T>C (p.Met1840Thr)
|
rs149193520
|
0.00001
|
|
NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly)
|
rs200157204
|
0.00001
|
|
NM_000257.4(MYH7):c.5536C>T (p.Arg1846Cys)
|
rs12590294
|
0.00001
|
|
NM_000257.4(MYH7):c.5559+6A>G
|
rs781124375
|
0.00001
|
|
NM_000257.4(MYH7):c.5560-12T>G
|
rs587781086
|
0.00001
|
|
NM_000257.4(MYH7):c.5560-6C>T
|
rs767956231
|
0.00001
|
|
NM_000257.4(MYH7):c.5565G>A (p.Glu1855=)
|
rs762494719
|
0.00001
|
|
NM_000257.4(MYH7):c.5574G>A (p.Arg1858=)
|
rs529784690
|
0.00001
|
|
NM_000257.4(MYH7):c.5587C>T (p.Arg1863Trp)
|
rs376668612
|
0.00001
|
|
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln)
|
rs45520836
|
0.00001
|
|
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly)
|
rs730880824
|
0.00001
|
|
NM_000257.4(MYH7):c.5639G>A (p.Arg1880His)
|
rs867477685
|
0.00001
|
|
NM_000257.4(MYH7):c.5646C>T (p.Ala1882=)
|
rs730880726
|
0.00001
|
|
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
|
NM_000257.4(MYH7):c.5661G>A (p.Glu1887=)
|
rs730880727
|
0.00001
|
|
NM_000257.4(MYH7):c.5667C>T (p.Ala1889=)
|
rs1595070502
|
0.00001
|
|
NM_000257.4(MYH7):c.5671A>G (p.Thr1891Ala)
|
rs1295948508
|
0.00001
|
|
NM_000257.4(MYH7):c.5687T>G (p.Phe1896Cys)
|
rs778562229
|
0.00001
|
|
NM_000257.4(MYH7):c.5703C>T (p.His1901=)
|
rs45570635
|
0.00001
|
|
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln)
|
rs397516253
|
0.00001
|
|
NM_000257.4(MYH7):c.5727G>A (p.Arg1909=)
|
rs761750159
|
0.00001
|
|
NM_000257.4(MYH7):c.5749G>T (p.Val1917Phe)
|
rs397516255
|
0.00001
|
|
NM_000257.4(MYH7):c.5762G>A (p.Arg1921Gln)
|
rs397516256
|
0.00001
|
|
NM_000257.4(MYH7):c.5765C>T (p.Ala1922Val)
|
rs777524474
|
0.00001
|
|
NM_000257.4(MYH7):c.5787G>A (p.Thr1929=)
|
rs397516257
|
0.00001
|
|
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln)
|
rs727504273
|
0.00001
|
|
NM_000257.4(MYH7):c.621G>A (p.Lys207=)
|
rs1472440320
|
0.00001
|
|
NM_000257.4(MYH7):c.705C>T (p.Thr235=)
|
rs552415639
|
0.00001
|
|
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)
|
rs45516091
|
0.00001
|
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
|
NM_000257.4(MYH7):c.733-11C>T
|
rs1191858525
|
0.00001
|
|
NM_000257.4(MYH7):c.733-8C>T
|
rs201264386
|
0.00001
|
|
NM_000257.4(MYH7):c.821T>C (p.Ile274Thr)
|
rs773456019
|
0.00001
|
|
NM_000257.4(MYH7):c.853A>G (p.Ile285Val)
|
rs748692506
|
0.00001
|
|
NM_000257.4(MYH7):c.898A>T (p.Met300Leu)
|
rs759998697
|
0.00001
|
|
NM_000257.4(MYH7):c.969T>G (p.Ile323Met)
|
rs730880861
|
0.00001
|
|
NM_000258.3(MYL3):c.106G>A (p.Glu36Lys)
|
rs749941468
|
0.00001
|
|
NM_000258.3(MYL3):c.147G>T (p.Glu49Asp)
|
rs1004231349
|
0.00001
|
|
NM_000258.3(MYL3):c.178C>G (p.Leu60Val)
|
rs1367233580
|
0.00001
|
|
NM_000258.3(MYL3):c.183C>T (p.Phe61=)
|
rs368118534
|
0.00001
|
|
NM_000258.3(MYL3):c.188G>A (p.Arg63His)
|
rs139354105
|
0.00001
|
|
NM_000258.3(MYL3):c.193C>T (p.Pro65Ser)
|
rs730880960
|
0.00001
|
|
NM_000258.3(MYL3):c.220G>A (p.Gly74Arg)
|
rs730880956
|
0.00001
|
|
NM_000258.3(MYL3):c.222G>A (p.Gly74=)
|
rs144543453
|
0.00001
|
|
NM_000258.3(MYL3):c.235G>A (p.Val79Ile)
|
rs150634297
|
0.00001
|
|
NM_000258.3(MYL3):c.241C>T (p.Arg81Trp)
|
rs761891361
|
0.00001
|
|
NM_000258.3(MYL3):c.247C>T (p.Leu83=)
|
rs1246506798
|
0.00001
|
|
NM_000258.3(MYL3):c.26A>G (p.Lys9Arg)
|
rs1025864971
|
0.00001
|
|
NM_000258.3(MYL3):c.27G>A (p.Lys9=)
|
rs994017710
|
0.00001
|
|
NM_000258.3(MYL3):c.307G>A (p.Glu103Lys)
|
rs1479071663
|
0.00001
|
|
NM_000258.3(MYL3):c.30G>A (p.Lys10=)
|
rs779002620
|
0.00001
|
|
NM_000258.3(MYL3):c.426G>A (p.Lys142=)
|
rs1435096286
|
0.00001
|
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
|
NM_000258.3(MYL3):c.429G>A (p.Glu143=)
|
rs746210438
|
0.00001
|
|
NM_000258.3(MYL3):c.435T>C (p.Asn145=)
|
rs774762882
|
0.00001
|
|
NM_000258.3(MYL3):c.465C>T (p.His155=)
|
rs147125759
|
0.00001
|
|
NM_000258.3(MYL3):c.483T>G (p.Gly161=)
|
rs1345959283
|
0.00001
|
|
NM_000258.3(MYL3):c.501C>T (p.Asp167=)
|
rs552824036
|
0.00001
|
|
NM_000258.3(MYL3):c.502G>A (p.Glu168Lys)
|
rs1376871183
|
0.00001
|
|
NM_000258.3(MYL3):c.507G>A (p.Val169=)
|
rs1166390418
|
0.00001
|
|
NM_000258.3(MYL3):c.517A>G (p.Met173Val)
|
rs199474708
|
0.00001
|
|
NM_000258.3(MYL3):c.521C>T (p.Ala174Val)
|
rs763216044
|
0.00001
|
|
NM_000258.3(MYL3):c.555T>C (p.Tyr185=)
|
rs769009588
|
0.00001
|
|
NM_000258.3(MYL3):c.557A>C (p.Glu186Ala)
|
rs374329098
|
0.00001
|
|
NM_000258.3(MYL3):c.560-15T>G
|
rs1041055773
|
0.00001
|
|
NM_000258.3(MYL3):c.6C>A (p.Ala2=)
|
rs971197044
|
0.00001
|
|
NM_000335.5(SCN5A):c.1005T>C (p.Cys335=)
|
rs746053691
|
0.00001
|
|
NM_000335.5(SCN5A):c.1036G>A (p.Glu346Lys)
|
rs368552426
|
0.00001
|
|
NM_000335.5(SCN5A):c.1047C>T (p.Asp349=)
|
rs377364050
|
0.00001
|
|
NM_000335.5(SCN5A):c.1050C>T (p.His350=)
|
rs587781160
|
0.00001
|
|
NM_000335.5(SCN5A):c.1051G>A (p.Gly351Ser)
|
rs201276017
|
0.00001
|
|
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His)
|
rs28937318
|
0.00001
|
|
NM_000335.5(SCN5A):c.1230C>T (p.Ala410=)
|
rs766518794
|
0.00001
|
|
NM_000335.5(SCN5A):c.1297C>T (p.Arg433Cys)
|
rs374866214
|
0.00001
|
|
NM_000335.5(SCN5A):c.1298G>A (p.Arg433His)
|
rs879035421
|
0.00001
|
|
NM_000335.5(SCN5A):c.1324A>G (p.Lys442Glu)
|
rs1293526829
|
0.00001
|
|
NM_000335.5(SCN5A):c.1345A>G (p.Thr449Ala)
|
rs199473571
|
0.00001
|
|
NM_000335.5(SCN5A):c.1353G>A (p.Arg451=)
|
rs1258339684
|
0.00001
|
|
NM_000335.5(SCN5A):c.1373G>A (p.Arg458His)
|
rs373692157
|
0.00001
|
|
NM_000335.5(SCN5A):c.1398G>T (p.Leu466Phe)
|
rs776541865
|
0.00001
|
|
NM_000335.5(SCN5A):c.1405G>A (p.Val469Ile)
|
rs371911318
|
0.00001
|
|
NM_000335.5(SCN5A):c.1413C>T (p.Ser471=)
|
rs780041998
|
0.00001
|
|
NM_000335.5(SCN5A):c.1491T>G (p.Ser497=)
|
rs761505485
|
0.00001
|
|
NM_000335.5(SCN5A):c.1500A>G (p.Glu500=)
|
rs2061981200
|
0.00001
|
|
NM_000335.5(SCN5A):c.1511G>C (p.Arg504Thr)
|
rs776451920
|
0.00001
|
|
NM_000335.5(SCN5A):c.1517T>A (p.Met506Lys)
|
rs760531609
|
0.00001
|
|
NM_000335.5(SCN5A):c.152C>T (p.Ala51Val)
|
rs727505131
|
0.00001
|
|
NM_000335.5(SCN5A):c.1537C>T (p.Arg513Cys)
|
rs145733679
|
0.00001
|
|
NM_000335.5(SCN5A):c.1538G>A (p.Arg513His)
|
rs397517951
|
0.00001
|
|
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys)
|
rs199473119
|
0.00001
|
|
NM_000335.5(SCN5A):c.1573A>G (p.Ser525Gly)
|
rs1474161913
|
0.00001
|
|
NM_000335.5(SCN5A):c.1576C>T (p.Arg526Cys)
|
rs575883763
|
0.00001
|
|
NM_000335.5(SCN5A):c.1595T>G (p.Phe532Cys)
|
rs199473573
|
0.00001
|
|
NM_000335.5(SCN5A):c.15A>G (p.Leu5=)
|
rs747382316
|
0.00001
|
|
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln)
|
rs199473121
|
0.00001
|
|
NM_000335.5(SCN5A):c.1606G>C (p.Asp536His)
|
rs1475895120
|
0.00001
|
|
NM_000335.5(SCN5A):c.1613G>A (p.Gly538Asp)
|
rs779486899
|
0.00001
|
|
NM_000335.5(SCN5A):c.1638T>C (p.Asp546=)
|
rs771534167
|
0.00001
|
|
NM_000335.5(SCN5A):c.1670A>T (p.His557Leu)
|
rs1026788049
|
0.00001
|
|
NM_000335.5(SCN5A):c.1676C>T (p.Thr559Ile)
|
rs199473575
|
0.00001
|
|
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln)
|
rs199473124
|
0.00001
|
|
NM_000335.5(SCN5A):c.1705C>T (p.Arg569Trp)
|
rs199473576
|
0.00001
|
|
NM_000335.5(SCN5A):c.1707G>C (p.Arg569=)
|
rs747600514
|
0.00001
|
|
NM_000335.5(SCN5A):c.1716C>T (p.Ala572=)
|
rs796636336
|
0.00001
|
|
NM_000335.5(SCN5A):c.1763A>G (p.His588Arg)
|
rs1559771280
|
0.00001
|
|
NM_000335.5(SCN5A):c.1775A>G (p.Asn592Ser)
|
rs1359868988
|
0.00001
|
|
NM_000335.5(SCN5A):c.1776C>G (p.Asn592Lys)
|
rs199473130
|
0.00001
|
|
NM_000335.5(SCN5A):c.178G>C (p.Ala60Pro)
|
rs1407018433
|
0.00001
|
|
NM_000335.5(SCN5A):c.1806A>G (p.Ser602=)
|
rs745643129
|
0.00001
|
|
NM_000335.5(SCN5A):c.1820G>T (p.Gly607Val)
|
rs757119370
|
0.00001
|
|
NM_000335.5(SCN5A):c.1851C>T (p.His617=)
|
rs759765699
|
0.00001
|
|
NM_000335.5(SCN5A):c.1860C>T (p.Arg620=)
|
rs1460093851
|
0.00001
|
|
NM_000335.5(SCN5A):c.1873G>C (p.Glu625Gln)
|
rs201552126
|
0.00001
|
|
NM_000335.5(SCN5A):c.1881G>A (p.Pro627=)
|
rs1027656721
|
0.00001
|
|
NM_000335.5(SCN5A):c.1895C>T (p.Thr632Met)
|
rs199473134
|
0.00001
|
|
NM_000335.5(SCN5A):c.1896G>A (p.Thr632=)
|
rs201037918
|
0.00001
|
|
NM_000335.5(SCN5A):c.193C>T (p.Pro65Ser)
|
rs1202614416
|
0.00001
|
|
NM_000335.5(SCN5A):c.1946G>A (p.Cys649Tyr)
|
rs1380959630
|
0.00001
|
|
NM_000335.5(SCN5A):c.1955G>A (p.Gly652Asp)
|
rs762737339
|
0.00001
|
|
NM_000335.5(SCN5A):c.1982G>A (p.Arg661Gln)
|
rs969308588
|
0.00001
|
|
NM_000335.5(SCN5A):c.1990A>G (p.Ser664Gly)
|
rs757444820
|
0.00001
|
|
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=)
|
rs751050999
|
0.00001
|
|
NM_000335.5(SCN5A):c.2038C>T (p.Arg680Cys)
|
rs376173627
|
0.00001
|
|
NM_000335.5(SCN5A):c.2047T>G (p.Cys683Gly)
|
rs199473144
|
0.00001
|
|
NM_000335.5(SCN5A):c.2065C>T (p.Arg689Cys)
|
rs199473580
|
0.00001
|
|
NM_000335.5(SCN5A):c.2070C>T (p.Leu690=)
|
rs760619257
|
0.00001
|
|
NM_000335.5(SCN5A):c.2078G>A (p.Arg693His)
|
rs373087176
|
0.00001
|
|
NM_000335.5(SCN5A):c.2081A>G (p.Tyr694Cys)
|
rs1438675647
|
0.00001
|
|
NM_000335.5(SCN5A):c.2085G>A (p.Leu695=)
|
rs781573464
|
0.00001
|
|
NM_000335.5(SCN5A):c.209A>G (p.Asn70Ser)
|
rs368357262
|
0.00001
|
|
NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys)
|
rs199473050
|
0.00001
|
|
NM_000335.5(SCN5A):c.2114C>T (p.Ser705Phe)
|
rs199473148
|
0.00001
|
|
NM_000335.5(SCN5A):c.2167A>G (p.Ile723Val)
|
rs1354646790
|
0.00001
|
|
NM_000335.5(SCN5A):c.2171C>T (p.Thr724Ile)
|
rs753462178
|
0.00001
|
|
NM_000335.5(SCN5A):c.2204C>G (p.Ala735Gly)
|
rs137854611
|
0.00001
|
|
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys)
|
rs199473582
|
0.00001
|
|
NM_000335.5(SCN5A):c.2247G>C (p.Leu749=)
|
rs1192310230
|
0.00001
|
|
NM_000335.5(SCN5A):c.2251G>A (p.Val751Ile)
|
rs772681454
|
0.00001
|
|
NM_000335.5(SCN5A):c.225C>A (p.Leu75=)
|
rs752921080
|
0.00001
|
|
NM_000335.5(SCN5A):c.2263-12C>T
|
rs768759826
|
0.00001
|
|
NM_000335.5(SCN5A):c.22C>T (p.Arg8Trp)
|
rs1490175548
|
0.00001
|
|
NM_000335.5(SCN5A):c.2313C>T (p.Leu771=)
|
rs876657580
|
0.00001
|
|
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn)
|
rs199473157
|
0.00001
|
|
NM_000335.5(SCN5A):c.2331C>T (p.Phe777=)
|
rs755700532
|
0.00001
|
|
NM_000335.5(SCN5A):c.238C>T (p.Leu80=)
|
rs773759331
|
0.00001
|
|
NM_000335.5(SCN5A):c.2398C>T (p.Arg800Cys)
|
rs764252430
|
0.00001
|
|
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His)
|
rs566251672
|
0.00001
|
|
NM_000335.5(SCN5A):c.2416G>A (p.Val806Met)
|
rs771339055
|
0.00001
|
|
NM_000335.5(SCN5A):c.2422C>T (p.Arg808Cys)
|
rs749864465
|
0.00001
|
|
NM_000335.5(SCN5A):c.2437-3C>T
|
rs1289539591
|
0.00001
|
|
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln)
|
rs199473584
|
0.00001
|
|
NM_000335.5(SCN5A):c.2484C>T (p.Leu828=)
|
rs923903065
|
0.00001
|
|
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)
|
rs45475899
|
0.00001
|
|
NM_000335.5(SCN5A):c.2542A>T (p.Ile848Phe)
|
rs199473166
|
0.00001
|
|
NM_000335.5(SCN5A):c.2547C>T (p.Ile849=)
|
rs2061659544
|
0.00001
|
|
NM_000335.5(SCN5A):c.2548G>A (p.Val850Met)
|
rs911293694
|
0.00001
|
|
NM_000335.5(SCN5A):c.2570G>A (p.Gly857Asp)
|
rs757302500
|
0.00001
|
|
NM_000335.5(SCN5A):c.2614G>A (p.Asp872Asn)
|
rs763396298
|
0.00001
|
|
NM_000335.5(SCN5A):c.2621G>A (p.Gly874Asp)
|
rs765698507
|
0.00001
|
|
NM_000335.5(SCN5A):c.262A>G (p.Ser88Gly)
|
rs779961972
|
0.00001
|
|
NM_000335.5(SCN5A):c.2685C>T (p.Leu895=)
|
rs1312149998
|
0.00001
|
|
NM_000335.5(SCN5A):c.2708T>C (p.Met903Thr)
|
rs1341909190
|
0.00001
|
|
NM_000335.5(SCN5A):c.270A>G (p.Gln90=)
|
rs758314302
|
0.00001
|
|
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)
|
rs199473177
|
0.00001
|
|
NM_000335.5(SCN5A):c.2788-5G>A
|
rs200430037
|
0.00001
|
|
NM_000335.5(SCN5A):c.2795A>G (p.Asn932Ser)
|
rs2061582195
|
0.00001
|
|
NM_000335.5(SCN5A):c.2826C>T (p.Phe942=)
|
rs766950305
|
0.00001
|
|
NM_000335.5(SCN5A):c.2859C>G (p.Asp953Glu)
|
rs762818132
|
0.00001
|
|
NM_000335.5(SCN5A):c.2875C>T (p.Leu959Phe)
|
rs1329499714
|
0.00001
|
|
NM_000335.5(SCN5A):c.2876T>C (p.Leu959Pro)
|
rs1276970820
|
0.00001
|
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
|
NM_000335.5(SCN5A):c.2911C>T (p.Arg971Cys)
|
rs61737825
|
0.00001
|
|
NM_000335.5(SCN5A):c.2912G>A (p.Arg971His)
|
rs749651069
|
0.00001
|
|
NM_000335.5(SCN5A):c.2923C>T (p.Arg975Trp)
|
rs41311135
|
0.00001
|
|
NM_000335.5(SCN5A):c.2935G>C (p.Asp979His)
|
rs754467213
|
0.00001
|
|
NM_000335.5(SCN5A):c.2970G>A (p.Gln990=)
|
rs771130219
|
0.00001
|
|
NM_000335.5(SCN5A):c.2977G>A (p.Ala993Thr)
|
rs770088052
|
0.00001
|
|
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=)
|
rs781529391
|
0.00001
|
|
NM_000335.5(SCN5A):c.3020C>T (p.Thr1007Ile)
|
rs763935970
|
0.00001
|
|
NM_000335.5(SCN5A):c.3061C>T (p.Pro1021Ser)
|
rs794728871
|
0.00001
|
|
NM_000335.5(SCN5A):c.3079C>T (p.Arg1027Trp)
|
rs1455337011
|
0.00001
|
|
NM_000335.5(SCN5A):c.3081G>A (p.Arg1027=)
|
rs878967241
|
0.00001
|
|
NM_000335.5(SCN5A):c.3133G>A (p.Val1045Met)
|
rs527480102
|
0.00001
|
|
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr)
|
rs1373296470
|
0.00001
|
|
NM_000335.5(SCN5A):c.316A>G (p.Ser106Gly)
|
rs1331765859
|
0.00001
|
|
NM_000335.5(SCN5A):c.3192G>A (p.Glu1064=)
|
rs886039126
|
0.00001
|
|
NM_000335.5(SCN5A):c.3229-10T>C
|
rs930323550
|
0.00001
|
|
NM_000335.5(SCN5A):c.3233C>T (p.Ser1078Phe)
|
rs199473188
|
0.00001
|
|
NM_000335.5(SCN5A):c.3258G>A (p.Glu1086=)
|
rs727504924
|
0.00001
|
|
NM_000335.5(SCN5A):c.3262C>G (p.Pro1088Ala)
|
rs1036508155
|
0.00001
|
|
NM_000335.5(SCN5A):c.3267G>A (p.Pro1089=)
|
rs752999955
|
0.00001
|
|
NM_000335.5(SCN5A):c.3273C>T (p.Ser1091=)
|
rs1057520359
|
0.00001
|
|
NM_000335.5(SCN5A):c.3335C>T (p.Ala1112Val)
|
rs199473194
|
0.00001
|
|
NM_000335.5(SCN5A):c.3365C>T (p.Pro1122Leu)
|
rs1447666161
|
0.00001
|
|
NM_000335.5(SCN5A):c.3371C>G (p.Ala1124Gly)
|
rs730880206
|
0.00001
|
|
NM_000335.5(SCN5A):c.3388-15C>T
|
rs781185727
|
0.00001
|
|
NM_000335.5(SCN5A):c.3388-4A>G
|
rs1224411450
|
0.00001
|
|
NM_000335.5(SCN5A):c.3388A>T (p.Thr1130Ser)
|
rs371469522
|
0.00001
|
|
NM_000335.5(SCN5A):c.3439G>A (p.Ala1147Thr)
|
rs762810998
|
0.00001
|
|
NM_000335.5(SCN5A):c.3456G>C (p.Gln1152His)
|
rs776705132
|
0.00001
|
|
NM_000335.5(SCN5A):c.3464A>G (p.Asp1155Gly)
|
rs747205537
|
0.00001
|
|
NM_000335.5(SCN5A):c.3469G>A (p.Gly1157Ser)
|
rs1380330936
|
0.00001
|
|
NM_000335.5(SCN5A):c.3495C>T (p.Asp1165=)
|
rs1358339064
|
0.00001
|
|
NM_000335.5(SCN5A):c.3497G>A (p.Cys1166Tyr)
|
rs993780673
|
0.00001
|
|
NM_000335.5(SCN5A):c.3509-3T>C
|
rs924305428
|
0.00001
|
|
NM_000335.5(SCN5A):c.3538G>T (p.Val1180Leu)
|
rs794728874
|
0.00001
|
|
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr)
|
rs199473595
|
0.00001
|
|
NM_000335.5(SCN5A):c.3557C>A (p.Pro1186Gln)
|
rs199473201
|
0.00001
|
|
NM_000335.5(SCN5A):c.3576G>A (p.Arg1192=)
|
rs750267363
|
0.00001
|
|
NM_000335.5(SCN5A):c.360C>T (p.Ile120=)
|
rs587781158
|
0.00001
|
|
NM_000335.5(SCN5A):c.3619G>A (p.Glu1207Lys)
|
rs774537241
|
0.00001
|
|
NM_000335.5(SCN5A):c.3648C>T (p.Leu1216=)
|
rs1264715162
|
0.00001
|
|
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val)
|
rs727503407
|
0.00001
|
|
NM_000335.5(SCN5A):c.3660G>A (p.Ala1220=)
|
rs1057522672
|
0.00001
|
|
NM_000335.5(SCN5A):c.3664-9T>C
|
rs770223763
|
0.00001
|
|
NM_000335.5(SCN5A):c.3669C>T (p.Phe1223=)
|
rs1416363920
|
0.00001
|
|
NM_000335.5(SCN5A):c.3738A>G (p.Thr1246=)
|
rs1450547019
|
0.00001
|
|
NM_000335.5(SCN5A):c.375G>T (p.Val125=)
|
rs2062503592
|
0.00001
|
|
NM_000335.5(SCN5A):c.3807C>T (p.Ala1269=)
|
rs367927086
|
0.00001
|
|
NM_000335.5(SCN5A):c.3837+1G>A
|
rs1366120635
|
0.00001
|
|
NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu)
|
rs28937319
|
0.00001
|
|
NM_000335.5(SCN5A):c.3909G>A (p.Thr1303=)
|
rs764462471
|
0.00001
|
|
NM_000335.5(SCN5A):c.393-4G>A
|
rs1390882998
|
0.00001
|
|
NM_000335.5(SCN5A):c.3944G>A (p.Arg1315Gln)
|
rs765907469
|
0.00001
|
|
NM_000335.5(SCN5A):c.3947T>G (p.Phe1316Cys)
|
rs762546813
|
0.00001
|
|
NM_000335.5(SCN5A):c.4005C>T (p.Asn1335=)
|
rs746892102
|
0.00001
|
|
NM_000335.5(SCN5A):c.401A>G (p.Asn134Ser)
|
rs879162705
|
0.00001
|
|
NM_000335.5(SCN5A):c.4054G>A (p.Val1352Met)
|
rs199473233
|
0.00001
|
|
NM_000335.5(SCN5A):c.4056G>A (p.Val1352=)
|
rs781573686
|
0.00001
|
|
NM_000335.5(SCN5A):c.4062C>T (p.Leu1354=)
|
rs950632164
|
0.00001
|
|
NM_000335.5(SCN5A):c.4068G>A (p.Ala1356=)
|
rs187370816
|
0.00001
|
|
NM_000335.5(SCN5A):c.408C>T (p.Leu136=)
|
rs1049973994
|
0.00001
|
|
NM_000335.5(SCN5A):c.4098A>G (p.Thr1366=)
|
rs563832893
|
0.00001
|
|
NM_000335.5(SCN5A):c.4129G>A (p.Val1377Met)
|
rs748312802
|
0.00001
|
|
NM_000335.5(SCN5A):c.4212G>T (p.Val1404=)
|
rs753456813
|
0.00001
|
|
NM_000335.5(SCN5A):c.4218C>T (p.Ala1406=)
|
rs373042738
|
0.00001
|
|
NM_000335.5(SCN5A):c.423C>T (p.Ile141=)
|
rs1381613896
|
0.00001
|
|
NM_000335.5(SCN5A):c.4297T>G (p.Tyr1433Asp)
|
rs888787757
|
0.00001
|
|
NM_000335.5(SCN5A):c.437T>C (p.Val146Ala)
|
rs1327199880
|
0.00001
|
|
NM_000335.5(SCN5A):c.4394T>C (p.Ile1465Thr)
|
rs794728882
|
0.00001
|
|
NM_000335.5(SCN5A):c.4400T>C (p.Val1467Ala)
|
rs794728883
|
0.00001
|
|
NM_000335.5(SCN5A):c.4435-13C>T
|
rs768122161
|
0.00001
|
|
NM_000335.5(SCN5A):c.4488C>T (p.Ala1496=)
|
rs2061148293
|
0.00001
|
|
NM_000335.5(SCN5A):c.4500G>A (p.Leu1500=)
|
rs767615184
|
0.00001
|
|
NM_000335.5(SCN5A):c.4502G>C (p.Gly1501Ala)
|
rs1230010586
|
0.00001
|
|
NM_000335.5(SCN5A):c.4509G>A (p.Lys1503=)
|
rs751787337
|
0.00001
|
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
|
NM_000335.5(SCN5A):c.4533G>A (p.Arg1511=)
|
rs372874010
|
0.00001
|
|
NM_000335.5(SCN5A):c.454G>A (p.Asp152Asn)
|
rs778337208
|
0.00001
|
|
NM_000335.5(SCN5A):c.4563C>T (p.Phe1521=)
|
rs762357780
|
0.00001
|
|
NM_000335.5(SCN5A):c.4564G>A (p.Asp1522Asn)
|
rs777254969
|
0.00001
|
|
NM_000335.5(SCN5A):c.4672A>G (p.Ile1558Val)
|
rs779999584
|
0.00001
|
|
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)
|
rs754221948
|
0.00001
|
|
NM_000335.5(SCN5A):c.4725T>C (p.Ile1575=)
|
rs764647209
|
0.00001
|
|
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys)
|
rs45514691
|
0.00001
|
|
NM_000335.5(SCN5A):c.4804A>T (p.Ile1602Phe)
|
rs1441099546
|
0.00001
|
|
NM_000335.5(SCN5A):c.4806C>T (p.Ile1602=)
|
rs769709544
|
0.00001
|
|
NM_000335.5(SCN5A):c.4812C>T (p.Gly1604=)
|
rs773016454
|
0.00001
|
|
NM_000335.5(SCN5A):c.4823C>T (p.Ser1608Leu)
|
rs199473622
|
0.00001
|
|
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=)
|
rs886058460
|
0.00001
|
|
NM_000335.5(SCN5A):c.4853C>T (p.Pro1618Leu)
|
rs771209646
|
0.00001
|
|
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)
|
rs199473282
|
0.00001
|
|
NM_000335.5(SCN5A):c.4873C>T (p.Arg1625Cys)
|
rs918933961
|
0.00001
|
|
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)
|
rs199473286
|
0.00001
|
|
NM_000335.5(SCN5A):c.4910G>A (p.Arg1637Gln)
|
rs374557801
|
0.00001
|
|
NM_000335.5(SCN5A):c.4923G>T (p.Gly1641=)
|
rs758659451
|
0.00001
|
|
NM_000335.5(SCN5A):c.4926C>A (p.Ile1642=)
|
rs1002477383
|
0.00001
|
|
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)
|
rs28937316
|
0.00001
|
|
NM_000335.5(SCN5A):c.4929C>T (p.Arg1643=)
|
rs770893644
|
0.00001
|
|
NM_000335.5(SCN5A):c.4931C>T (p.Thr1644Met)
|
rs199473288
|
0.00001
|
|
NM_000335.5(SCN5A):c.4G>A (p.Ala2Thr)
|
rs199473042
|
0.00001
|
|
NM_000335.5(SCN5A):c.5019T>C (p.Phe1673=)
|
rs1174642559
|
0.00001
|
|
NM_000335.5(SCN5A):c.5034C>T (p.Phe1678=)
|
rs867169736
|
0.00001
|
|
NM_000335.5(SCN5A):c.5065G>A (p.Asp1689Asn)
|
rs1060499900
|
0.00001
|
|
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)
|
rs137854604
|
0.00001
|
|
NM_000335.5(SCN5A):c.5127G>A (p.Ser1709=)
|
rs758998714
|
0.00001
|
|
NM_000335.5(SCN5A):c.5207G>A (p.Gly1736Asp)
|
rs773130164
|
0.00001
|
|
NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe)
|
rs786205271
|
0.00001
|
|
NM_000335.5(SCN5A):c.5223C>T (p.Cys1741=)
|
rs878855293
|
0.00001
|
|
NM_000335.5(SCN5A):c.5226G>A (p.Gly1742=)
|
rs202227722
|
0.00001
|
|
NM_000335.5(SCN5A):c.5235C>T (p.Ala1745=)
|
rs1226880121
|
0.00001
|
|
NM_000335.5(SCN5A):c.5236G>A (p.Val1746Met)
|
rs199473630
|
0.00001
|
|
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)
|
rs137854601
|
0.00001
|
|
NM_000335.5(SCN5A):c.5370C>T (p.Phe1790=)
|
rs372380415
|
0.00001
|
|
NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=)
|
rs780761880
|
0.00001
|
|
NM_000335.5(SCN5A):c.5442T>C (p.Ser1814=)
|
rs754768327
|
0.00001
|
|
NM_000335.5(SCN5A):c.5473C>T (p.Arg1825Cys)
|
rs199473635
|
0.00001
|
|
NM_000335.5(SCN5A):c.5536C>T (p.Arg1846Cys)
|
rs768246863
|
0.00001
|
|
NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His)
|
rs369058100
|
0.00001
|
|
NM_000335.5(SCN5A):c.554C>T (p.Ala185Val)
|
rs199473067
|
0.00001
|
|
NM_000335.5(SCN5A):c.5559C>T (p.Leu1853=)
|
rs758289489
|
0.00001
|
|
NM_000335.5(SCN5A):c.555G>A (p.Ala185=)
|
rs1222024772
|
0.00001
|
|
NM_000335.5(SCN5A):c.5583G>A (p.Leu1861=)
|
rs745826534
|
0.00001
|
|
NM_000335.5(SCN5A):c.5605G>A (p.Ala1869Thr)
|
rs794728939
|
0.00001
|
|
NM_000335.5(SCN5A):c.5661C>T (p.Ser1887=)
|
rs751914198
|
0.00001
|
|
NM_000335.5(SCN5A):c.5664C>T (p.Tyr1888=)
|
rs1438433663
|
0.00001
|
|
NM_000335.5(SCN5A):c.5673C>T (p.Ile1891=)
|
rs763463291
|
0.00001
|
|
NM_000335.5(SCN5A):c.5687G>A (p.Arg1896Gln)
|
rs761369505
|
0.00001
|
|
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His)
|
rs370694515
|
0.00001
|
|
NM_000335.5(SCN5A):c.5737A>G (p.Arg1913Gly)
|
rs766751878
|
0.00001
|
|
NM_000335.5(SCN5A):c.573C>T (p.Asp191=)
|
rs779591903
|
0.00001
|
|
NM_000335.5(SCN5A):c.5740C>T (p.His1914Tyr)
|
rs762462124
|
0.00001
|
|
NM_000335.5(SCN5A):c.5753G>A (p.Arg1918His)
|
rs141107387
|
0.00001
|
|
NM_000335.5(SCN5A):c.5772C>G (p.Ser1924=)
|
rs199687668
|
0.00001
|
|
NM_000335.5(SCN5A):c.5778C>T (p.Leu1926=)
|
rs955428424
|
0.00001
|
|
NM_000335.5(SCN5A):c.5800G>A (p.Gly1934Ser)
|
rs199473637
|
0.00001
|
|
NM_000335.5(SCN5A):c.5805C>T (p.Leu1935=)
|
rs372582841
|
0.00001
|
|
NM_000335.5(SCN5A):c.5808C>T (p.Ser1936=)
|
rs754276826
|
0.00001
|
|
NM_000335.5(SCN5A):c.5846A>G (p.Tyr1949Cys)
|
rs375614054
|
0.00001
|
|
NM_000335.5(SCN5A):c.5888C>T (p.Ser1963Phe)
|
rs199473332
|
0.00001
|
|
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe)
|
rs772258197
|
0.00001
|
|
NM_000335.5(SCN5A):c.5940T>C (p.Thr1980=)
|
rs1415384199
|
0.00001
|
|
NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=)
|
rs397517957
|
0.00001
|
|
NM_000335.5(SCN5A):c.594T>C (p.Phe198=)
|
rs757869098
|
0.00001
|
|
NM_000335.5(SCN5A):c.5965G>C (p.Val1989Leu)
|
rs765885732
|
0.00001
|
|
NM_000335.5(SCN5A):c.5972G>C (p.Gly1991Ala)
|
rs558904601
|
0.00001
|
|
NM_000335.5(SCN5A):c.5984G>A (p.Ser1995Asn)
|
rs1299022904
|
0.00001
|
|
NM_000335.5(SCN5A):c.5995G>T (p.Asp1999Tyr)
|
rs764195092
|
0.00001
|
|
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=)
|
rs538707712
|
0.00001
|
|
NM_000335.5(SCN5A):c.6003C>T (p.Ala2001=)
|
rs749546972
|
0.00001
|
|
NM_000335.5(SCN5A):c.6010C>T (p.Pro2004Ser)
|
rs199473337
|
0.00001
|
|
NM_000335.5(SCN5A):c.601A>G (p.Ile201Val)
|
rs368599832
|
0.00001
|
|
NM_000335.5(SCN5A):c.6024C>G (p.Asp2008Glu)
|
rs757114635
|
0.00001
|
|
NM_000335.5(SCN5A):c.6047G>A (p.Ter2016=)
|
rs529885772
|
0.00001
|
|
NM_000335.5(SCN5A):c.612-9T>A
|
rs1229946415
|
0.00001
|
|
NM_000335.5(SCN5A):c.621T>C (p.Thr207=)
|
rs781099738
|
0.00001
|
|
NM_000335.5(SCN5A):c.656G>A (p.Arg219His)
|
rs878855296
|
0.00001
|
|
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln)
|
rs199473071
|
0.00001
|
|
NM_000335.5(SCN5A):c.687T>C (p.Thr229=)
|
rs770390440
|
0.00001
|
|
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr)
|
rs199473073
|
0.00001
|
|
NM_000335.5(SCN5A):c.72C>T (p.Ile24=)
|
rs727503412
|
0.00001
|
|
NM_000335.5(SCN5A):c.73G>A (p.Glu25Lys)
|
rs747251132
|
0.00001
|
|
NM_000335.5(SCN5A):c.744G>A (p.Lys248=)
|
rs45453395
|
0.00001
|
|
NM_000335.5(SCN5A):c.751G>A (p.Ala251Thr)
|
rs1274755542
|
0.00001
|
|
NM_000335.5(SCN5A):c.784A>G (p.Ser262Gly)
|
rs777689378
|
0.00001
|
|
NM_000335.5(SCN5A):c.786C>T (p.Ser262=)
|
rs753246399
|
0.00001
|
|
NM_000335.5(SCN5A):c.787G>A (p.Val263Ile)
|
rs752824646
|
0.00001
|
|
NM_000335.5(SCN5A):c.79C>T (p.Arg27Cys)
|
rs746360906
|
0.00001
|
|
NM_000335.5(SCN5A):c.841G>A (p.Val281Met)
|
rs776363986
|
0.00001
|
|
NM_000335.5(SCN5A):c.84G>A (p.Met28Ile)
|
rs1284557438
|
0.00001
|
|
NM_000335.5(SCN5A):c.857C>T (p.Ala286Val)
|
rs778943853
|
0.00001
|
|
NM_000335.5(SCN5A):c.865G>A (p.Gly289Ser)
|
rs199473084
|
0.00001
|
|
NM_000335.5(SCN5A):c.872A>G (p.Asn291Ser)
|
rs199473563
|
0.00001
|
|
NM_000335.5(SCN5A):c.879C>T (p.Ser293=)
|
rs267599795
|
0.00001
|
|
NM_000335.5(SCN5A):c.898G>A (p.Val300Ile)
|
rs199473088
|
0.00001
|
|
NM_000335.5(SCN5A):c.934+5G>A
|
rs201672269
|
0.00001
|
|
NM_000335.5(SCN5A):c.994G>A (p.Ala332Thr)
|
rs749769938
|
0.00001
|
|
NM_000363.5(TNNI3):c.146dup (p.Lys50fs)
|
rs1162696593
|
0.00001
|
|
NM_000363.5(TNNI3):c.150G>A (p.Lys50=)
|
rs730881086
|
0.00001
|
|
NM_000363.5(TNNI3):c.152C>T (p.Thr51Ile)
|
rs1366283106
|
0.00001
|
|
NM_000363.5(TNNI3):c.164A>C (p.Gln55Pro)
|
rs775512887
|
0.00001
|
|
NM_000363.5(TNNI3):c.217G>C (p.Gly73Arg)
|
rs1170054667
|
0.00001
|
|
NM_000363.5(TNNI3):c.226C>T (p.Leu76=)
|
rs1336868426
|
0.00001
|
|
NM_000363.5(TNNI3):c.233C>T (p.Thr78Ile)
|
rs786205288
|
0.00001
|
|
NM_000363.5(TNNI3):c.24+6A>G
|
rs1178267975
|
0.00001
|
|
NM_000363.5(TNNI3):c.277C>T (p.Leu93=)
|
rs1221536494
|
0.00001
|
|
NM_000363.5(TNNI3):c.278T>C (p.Leu93Pro)
|
rs776035548
|
0.00001
|
|
NM_000363.5(TNNI3):c.300C>G (p.Leu100=)
|
rs772145171
|
0.00001
|
|
NM_000363.5(TNNI3):c.307C>T (p.Arg103Cys)
|
rs397516344
|
0.00001
|
|
NM_000363.5(TNNI3):c.322G>A (p.Asp108Asn)
|
rs766958196
|
0.00001
|
|
NM_000363.5(TNNI3):c.331A>G (p.Arg111Gly)
|
rs730881088
|
0.00001
|
|
NM_000363.5(TNNI3):c.336C>T (p.Tyr112=)
|
rs559450042
|
0.00001
|
|
NM_000363.5(TNNI3):c.340A>G (p.Ile114Val)
|
rs730881070
|
0.00001
|
|
NM_000363.5(TNNI3):c.34C>T (p.Pro12Ser)
|
rs553214254
|
0.00001
|
|
NM_000363.5(TNNI3):c.35C>T (p.Pro12Leu)
|
rs768052584
|
0.00001
|
|
NM_000363.5(TNNI3):c.368C>T (p.Thr123Met)
|
rs397516345
|
0.00001
|
|
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln)
|
rs727503506
|
0.00001
|
|
NM_000363.5(TNNI3):c.384G>A (p.Leu128=)
|
rs373130533
|
0.00001
|
|
NM_000363.5(TNNI3):c.416T>G (p.Phe139Cys)
|
rs1462112345
|
0.00001
|
|
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp)
|
rs730881071
|
0.00001
|
|
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn)
|
rs397516348
|
0.00001
|
|
NM_000363.5(TNNI3):c.432G>C (p.Leu144=)
|
rs776615304
|
0.00001
|
|
NM_000363.5(TNNI3):c.474G>C (p.Leu158=)
|
rs749880457
|
0.00001
|
|
NM_000363.5(TNNI3):c.482C>T (p.Ala161Val)
|
rs753413305
|
0.00001
|
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
|
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
|
rs727504242
|
0.00001
|
|
NM_000363.5(TNNI3):c.550-12G>A
|
rs754944128
|
0.00001
|
|
NM_000363.5(TNNI3):c.550-13C>T
|
rs372398075
|
0.00001
|
|
NM_000363.5(TNNI3):c.550-14T>C
|
rs758992431
|
0.00001
|
|
NM_000363.5(TNNI3):c.55A>G (p.Ile19Val)
|
rs755862334
|
0.00001
|
|
NM_000363.5(TNNI3):c.585C>T (p.Ile195=)
|
rs200085986
|
0.00001
|
|
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
|
rs104894727
|
0.00001
|
|
NM_000363.5(TNNI3):c.606G>A (p.Glu202=)
|
rs796474405
|
0.00001
|
|
NM_000363.5(TNNI3):c.620A>G (p.Lys207Arg)
|
rs367672692
|
0.00001
|
|
NM_000366.2(TPM1):c.801C>T (p.Asn267=)
|
rs146470352
|
0.00001
|
|
NM_000432.4(MYL2):c.*3G>A
|
rs530713211
|
0.00001
|
|
NM_000432.4(MYL2):c.-2C>T
|
rs730880938
|
0.00001
|
|
NM_000432.4(MYL2):c.101C>T (p.Thr34Ile)
|
rs876657894
|
0.00001
|
|
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp)
|
rs863225117
|
0.00001
|
|
NM_000432.4(MYL2):c.142G>A (p.Asp48Asn)
|
rs727504405
|
0.00001
|
|
NM_000432.4(MYL2):c.147G>A (p.Leu49=)
|
rs749936467
|
0.00001
|
|
NM_000432.4(MYL2):c.156C>A (p.Thr52=)
|
rs761358011
|
0.00001
|
|
NM_000432.4(MYL2):c.170-14G>C
|
rs371431719
|
0.00001
|
|
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu)
|
rs199474809
|
0.00001
|
|
NM_000432.4(MYL2):c.206T>C (p.Met69Thr)
|
rs2071674449
|
0.00001
|
|
NM_000432.4(MYL2):c.221C>T (p.Pro74Leu)
|
rs942467544
|
0.00001
|
|
NM_000432.4(MYL2):c.257T>C (p.Phe86Ser)
|
rs730880950
|
0.00001
|
|
NM_000432.4(MYL2):c.275-12G>A
|
rs750937792
|
0.00001
|
|
NM_000432.4(MYL2):c.275-8C>T
|
rs765328765
|
0.00001
|
|
NM_000432.4(MYL2):c.28G>A (p.Ala10Thr)
|
rs730880942
|
0.00001
|
|
NM_000432.4(MYL2):c.303C>T (p.Asn101=)
|
rs1317472220
|
0.00001
|
|
NM_000432.4(MYL2):c.315G>C (p.Val105=)
|
rs768415509
|
0.00001
|
|
NM_000432.4(MYL2):c.31G>A (p.Gly11Arg)
|
rs397516402
|
0.00001
|
|
NM_000432.4(MYL2):c.34G>T (p.Gly12Cys)
|
rs730880937
|
0.00001
|
|
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly)
|
rs397516404
|
0.00001
|
|
NM_000432.4(MYL2):c.393C>G (p.Ser131=)
|
rs778630692
|
0.00001
|
|
NM_000432.4(MYL2):c.4-5C>G
|
rs374870836
|
0.00001
|
|
NM_000432.4(MYL2):c.403-11G>A
|
rs1212140808
|
0.00001
|
|
NM_000432.4(MYL2):c.403-6T>C
|
rs763332557
|
0.00001
|
|
NM_000432.4(MYL2):c.403-8C>T
|
rs1440682502
|
0.00001
|
|
NM_000432.4(MYL2):c.408C>T (p.Asp136=)
|
rs1356499130
|
0.00001
|
|
NM_000432.4(MYL2):c.413T>A (p.Met138Lys)
|
rs748760581
|
0.00001
|
|
NM_000432.4(MYL2):c.422C>A (p.Ala141Asp)
|
rs1024307408
|
0.00001
|
|
NM_000432.4(MYL2):c.447C>T (p.Asn149=)
|
rs397516405
|
0.00001
|
|
NM_000432.4(MYL2):c.450G>A (p.Leu150=)
|
rs1379018063
|
0.00001
|
|
NM_000432.4(MYL2):c.472A>G (p.Ile158Val)
|
rs2071648139
|
0.00001
|
|
NM_000432.4(MYL2):c.483C>T (p.His161=)
|
rs886039108
|
0.00001
|
|
NM_000432.4(MYL2):c.4G>T (p.Ala2Ser)
|
rs1060499882
|
0.00001
|
|
NM_000432.4(MYL2):c.63C>T (p.Phe21=)
|
rs779983470
|
0.00001
|
|
NM_001005242.3(PKP2):c.*5A>G
|
rs1398323423
|
0.00001
|
|
NM_001005242.3(PKP2):c.-10C>T
|
rs1450807689
|
0.00001
|
|
NM_001005242.3(PKP2):c.-14C>T
|
rs750694426
|
0.00001
|
|
NM_001005242.3(PKP2):c.-8C>T
|
rs767539502
|
0.00001
|
|
NM_001005242.3(PKP2):c.1024T>C (p.Ser342Pro)
|
rs563797120
|
0.00001
|
|
NM_001005242.3(PKP2):c.1025C>T (p.Ser342Phe)
|
rs1282672078
|
0.00001
|
|
NM_001005242.3(PKP2):c.1034+5G>A
|
rs1956944743
|
0.00001
|
|
NM_001005242.3(PKP2):c.1035-9T>C
|
rs1057522716
|
0.00001
|
|
NM_001005242.3(PKP2):c.1086A>G (p.Ala362=)
|
rs376167178
|
0.00001
|
|
NM_001005242.3(PKP2):c.1095G>A (p.Met365Ile)
|
rs770333863
|
0.00001
|
|
NM_001005242.3(PKP2):c.10C>T (p.Pro4Ser)
|
rs1425675043
|
0.00001
|
|
NM_001005242.3(PKP2):c.1104C>T (p.Ser368=)
|
rs892666132
|
0.00001
|
|
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter)
|
rs397516986
|
0.00001
|
|
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys)
|
rs878898365
|
0.00001
|
|
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)
|
rs766209297
|
0.00001
|
|
NM_001005242.3(PKP2):c.1167G>A (p.Lys389=)
|
rs751778207
|
0.00001
|
|
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile)
|
rs192041220
|
0.00001
|
|
NM_001005242.3(PKP2):c.1236G>A (p.Gln412=)
|
rs779749104
|
0.00001
|
|
NM_001005242.3(PKP2):c.1292T>C (p.Leu431Ser)
|
rs143397927
|
0.00001
|
|
NM_001005242.3(PKP2):c.130A>C (p.Ser44Arg)
|
rs1401769906
|
0.00001
|
|
NM_001005242.3(PKP2):c.1326G>A (p.Leu442=)
|
rs377076035
|
0.00001
|
|
NM_001005242.3(PKP2):c.136C>A (p.Arg46Ser)
|
rs764116301
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-1983C>G
|
rs377000496
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2023C>T
|
rs587781108
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2033G>A
|
rs757689437
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2044C>T
|
rs1420856333
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2051G>A
|
rs1408803372
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2055G>A
|
rs920363668
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2111C>T
|
rs1172703594
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2112A>G
|
rs367657856
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-5T>C
|
rs189036647
|
0.00001
|
|
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser)
|
rs374163198
|
0.00001
|
|
NM_001005242.3(PKP2):c.1420C>A (p.Leu474Ile)
|
rs879168083
|
0.00001
|
|
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val)
|
rs763749576
|
0.00001
|
|
NM_001005242.3(PKP2):c.1429A>G (p.Thr477Ala)
|
rs775192286
|
0.00001
|
|
NM_001005242.3(PKP2):c.1446G>A (p.Thr482=)
|
rs370753286
|
0.00001
|
|
NM_001005242.3(PKP2):c.1476T>C (p.Ser492=)
|
rs751082209
|
0.00001
|
|
NM_001005242.3(PKP2):c.1492G>A (p.Asp498Asn)
|
rs879068263
|
0.00001
|
|
NM_001005242.3(PKP2):c.14G>A (p.Gly5Asp)
|
rs774778142
|
0.00001
|
|
NM_001005242.3(PKP2):c.1515G>A (p.Leu505=)
|
rs148533214
|
0.00001
|
|
NM_001005242.3(PKP2):c.1518C>T (p.Leu506=)
|
rs1320642436
|
0.00001
|
|
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=)
|
rs535581825
|
0.00001
|
|
NM_001005242.3(PKP2):c.1547G>C (p.Gly516Ala)
|
rs1402108604
|
0.00001
|
|
NM_001005242.3(PKP2):c.1557-9T>C
|
rs778969163
|
0.00001
|
|
NM_001005242.3(PKP2):c.1567T>A (p.Ser523Thr)
|
rs753678882
|
0.00001
|
|
NM_001005242.3(PKP2):c.1574G>A (p.Gly525Asp)
|
rs898915439
|
0.00001
|
|
NM_001005242.3(PKP2):c.158G>A (p.Ser53Asn)
|
rs776363973
|
0.00001
|
|
NM_001005242.3(PKP2):c.1604G>A (p.Cys535Tyr)
|
rs1956409874
|
0.00001
|
|
NM_001005242.3(PKP2):c.165G>T (p.Arg55=)
|
rs1472609900
|
0.00001
|
|
NM_001005242.3(PKP2):c.1680G>A (p.Thr560=)
|
rs773662874
|
0.00001
|
|
NM_001005242.3(PKP2):c.1757T>C (p.Ile586Thr)
|
rs397517011
|
0.00001
|
|
NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys)
|
rs1060501183
|
0.00001
|
|
NM_001005242.3(PKP2):c.1762A>G (p.Ile588Val)
|
rs1169362109
|
0.00001
|
|
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)
|
rs397517012
|
0.00001
|
|
NM_001005242.3(PKP2):c.1794C>A (p.Asn598Lys)
|
rs727503370
|
0.00001
|
|
NM_001005242.3(PKP2):c.1840-10G>C
|
rs768000598
|
0.00001
|
|
NM_001005242.3(PKP2):c.1840-13T>C
|
rs533952272
|
0.00001
|
|
NM_001005242.3(PKP2):c.1846C>T (p.Gln616Ter)
|
rs762753884
|
0.00001
|
|
NM_001005242.3(PKP2):c.1875C>A (p.Ser625Arg)
|
rs1956377686
|
0.00001
|
|
NM_001005242.3(PKP2):c.1896G>T (p.Trp632Cys)
|
rs193922673
|
0.00001
|
|
NM_001005242.3(PKP2):c.1916T>C (p.Ile639Thr)
|
rs1956376395
|
0.00001
|
|
NM_001005242.3(PKP2):c.1920G>T (p.Arg640Ser)
|
rs760660042
|
0.00001
|
|
NM_001005242.3(PKP2):c.192C>A (p.Leu64=)
|
rs768376044
|
0.00001
|
|
NM_001005242.3(PKP2):c.1932C>T (p.Ser644=)
|
rs763042549
|
0.00001
|
|
NM_001005242.3(PKP2):c.1939G>A (p.Ala647Thr)
|
rs759920696
|
0.00001
|
|
NM_001005242.3(PKP2):c.1958A>G (p.Tyr653Cys)
|
rs778600610
|
0.00001
|
|
NM_001005242.3(PKP2):c.1989G>T (p.Gln663His)
|
rs765884775
|
0.00001
|
|
NM_001005242.3(PKP2):c.2013+3G>A
|
rs1222272381
|
0.00001
|
|
NM_001005242.3(PKP2):c.2014-12C>G
|
rs990954323
|
0.00001
|
|
NM_001005242.3(PKP2):c.2014-7A>G
|
rs1555141645
|
0.00001
|
|
NM_001005242.3(PKP2):c.2017C>T (p.Pro673Ser)
|
rs757205704
|
0.00001
|
|
NM_001005242.3(PKP2):c.2030C>T (p.Ala677Val)
|
rs1359431679
|
0.00001
|
|
NM_001005242.3(PKP2):c.2046G>A (p.Gln682=)
|
rs772622598
|
0.00001
|
|
NM_001005242.3(PKP2):c.2070C>G (p.Thr690=)
|
rs587781109
|
0.00001
|
|
NM_001005242.3(PKP2):c.2071C>G (p.Arg691Gly)
|
rs121434421
|
0.00001
|
|
NM_001005242.3(PKP2):c.212C>T (p.Ser71Phe)
|
rs796597346
|
0.00001
|
|
NM_001005242.3(PKP2):c.2159A>G (p.Asn720Ser)
|
rs767496004
|
0.00001
|
|
NM_001005242.3(PKP2):c.2168-5T>C
|
rs1227875716
|
0.00001
|
|
NM_001005242.3(PKP2):c.2200A>G (p.Ile734Val)
|
rs556563706
|
0.00001
|
|
NM_001005242.3(PKP2):c.2217G>A (p.Pro739=)
|
rs753226330
|
0.00001
|
|
NM_001005242.3(PKP2):c.224-11C>A
|
rs928408888
|
0.00001
|
|
NM_001005242.3(PKP2):c.224-4G>A
|
rs1186431446
|
0.00001
|
|
NM_001005242.3(PKP2):c.224-9T>C
|
rs1238184418
|
0.00001
|
|
NM_001005242.3(PKP2):c.2246C>A (p.Ala749Asp)
|
rs727504950
|
0.00001
|
|
NM_001005242.3(PKP2):c.2282A>G (p.Asn761Ser)
|
rs1488359220
|
0.00001
|
|
NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg)
|
rs766775778
|
0.00001
|
|
NM_001005242.3(PKP2):c.2356G>C (p.Ala786Pro)
|
rs768463319
|
0.00001
|
|
NM_001005242.3(PKP2):c.2358-6T>C
|
rs761613652
|
0.00001
|
|
NM_001005242.3(PKP2):c.2363C>T (p.Ala788Val)
|
rs763663760
|
0.00001
|
|
NM_001005242.3(PKP2):c.2391C>T (p.Ser797=)
|
rs772225819
|
0.00001
|
|
NM_001005242.3(PKP2):c.2409G>A (p.Leu803=)
|
rs374689137
|
0.00001
|
|
NM_001005242.3(PKP2):c.2411G>C (p.Trp804Ser)
|
rs117425357
|
0.00001
|
|
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr)
|
rs397517023
|
0.00001
|
|
NM_001005242.3(PKP2):c.2446-2A>C
|
rs1060501188
|
0.00001
|
|
NM_001005242.3(PKP2):c.2446-9A>G
|
rs1057524088
|
0.00001
|
|
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=)
|
rs777477467
|
0.00001
|
|
NM_001005242.3(PKP2):c.2479C>T (p.Arg827Trp)
|
rs754873048
|
0.00001
|
|
NM_001005242.3(PKP2):c.29A>G (p.Tyr10Cys)
|
rs1181973282
|
0.00001
|
|
NM_001005242.3(PKP2):c.301C>T (p.Arg101Cys)
|
rs796827562
|
0.00001
|
|
NM_001005242.3(PKP2):c.320C>T (p.Thr107Ile)
|
rs749774181
|
0.00001
|
|
NM_001005242.3(PKP2):c.35A>G (p.Tyr12Cys)
|
rs763433296
|
0.00001
|
|
NM_001005242.3(PKP2):c.374G>A (p.Arg125Lys)
|
rs1278479150
|
0.00001
|
|
NM_001005242.3(PKP2):c.405C>T (p.Ser135=)
|
rs775423741
|
0.00001
|
|
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys)
|
rs781739949
|
0.00001
|
|
NM_001005242.3(PKP2):c.414A>T (p.Glu138Asp)
|
rs771153426
|
0.00001
|
|
NM_001005242.3(PKP2):c.428A>G (p.His143Arg)
|
rs1448551311
|
0.00001
|
|
NM_001005242.3(PKP2):c.454C>T (p.Pro152Ser)
|
rs972806409
|
0.00001
|
|
NM_001005242.3(PKP2):c.462C>G (p.Ser154Arg)
|
rs397517026
|
0.00001
|
|
NM_001005242.3(PKP2):c.467C>T (p.Pro156Leu)
|
rs766360871
|
0.00001
|
|
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys)
|
rs397517027
|
0.00001
|
|
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala)
|
rs765195368
|
0.00001
|
|
NM_001005242.3(PKP2):c.485C>T (p.Thr162Met)
|
rs759687672
|
0.00001
|
|
NM_001005242.3(PKP2):c.493G>A (p.Asp165Asn)
|
rs886049322
|
0.00001
|
|
NM_001005242.3(PKP2):c.498C>T (p.Tyr166=)
|
rs772439804
|
0.00001
|
|
NM_001005242.3(PKP2):c.542A>C (p.Gln181Pro)
|
rs767358039
|
0.00001
|
|
NM_001005242.3(PKP2):c.553C>T (p.Arg185Trp)
|
rs571569344
|
0.00001
|
|
NM_001005242.3(PKP2):c.559G>A (p.Ala187Thr)
|
rs200095747
|
0.00001
|
|
NM_001005242.3(PKP2):c.568G>C (p.Val190Leu)
|
rs772384894
|
0.00001
|
|
NM_001005242.3(PKP2):c.575C>T (p.Pro192Leu)
|
rs748566573
|
0.00001
|
|
NM_001005242.3(PKP2):c.598G>A (p.Val200Met)
|
rs369923216
|
0.00001
|
|
NM_001005242.3(PKP2):c.610C>T (p.Arg204Cys)
|
rs777497296
|
0.00001
|
|
NM_001005242.3(PKP2):c.681C>T (p.Ser227=)
|
rs762263587
|
0.00001
|
|
NM_001005242.3(PKP2):c.688G>A (p.Val230Ile)
|
rs543281875
|
0.00001
|
|
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu)
|
rs560220280
|
0.00001
|
|
NM_001005242.3(PKP2):c.720G>A (p.Leu240=)
|
rs777567315
|
0.00001
|
|
NM_001005242.3(PKP2):c.726G>A (p.Thr242=)
|
rs866886453
|
0.00001
|
|
NM_001005242.3(PKP2):c.741G>C (p.Gly247=)
|
rs762366326
|
0.00001
|
|
NM_001005242.3(PKP2):c.788C>T (p.Thr263Met)
|
rs543758984
|
0.00001
|
|
NM_001005242.3(PKP2):c.837C>T (p.Pro279=)
|
rs572938229
|
0.00001
|
|
NM_001005242.3(PKP2):c.838G>A (p.Val280Ile)
|
rs748148237
|
0.00001
|
|
NM_001005242.3(PKP2):c.893C>A (p.Thr298Asn)
|
rs753271708
|
0.00001
|
|
NM_001005242.3(PKP2):c.8C>T (p.Ala3Val)
|
rs1033569962
|
0.00001
|
|
NM_001005242.3(PKP2):c.909A>G (p.Glu303=)
|
rs376001513
|
0.00001
|
|
NM_001005242.3(PKP2):c.921T>C (p.Ser307=)
|
rs941328238
|
0.00001
|
|
NM_001005242.3(PKP2):c.925G>A (p.Ala309Thr)
|
rs761677945
|
0.00001
|
|
NM_001005242.3(PKP2):c.931G>C (p.Asp311His)
|
rs1956947554
|
0.00001
|
|
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala)
|
rs756604557
|
0.00001
|
|
NM_001005242.3(PKP2):c.941G>A (p.Gly314Glu)
|
rs139903989
|
0.00001
|
|
NM_001005242.3(PKP2):c.994C>T (p.Leu332=)
|
rs1956945387
|
0.00001
|
|
NM_001005242.3(PKP2):c.99C>T (p.Pro33=)
|
rs778749586
|
0.00001
|
|
NM_001018004.2(TPM1):c.773-1142A>C
|
rs369978558
|
0.00001
|
|
NM_001018004.2(TPM1):c.773-1188C>T
|
rs760706706
|
0.00001
|
|
NM_001018004.2(TPM1):c.773-1191C>T
|
rs1170242661
|
0.00001
|
|
NM_001018005.2(TPM1):c.-13C>A
|
rs1257687404
|
0.00001
|
|
NM_001018005.2(TPM1):c.-7C>A
|
rs370871307
|
0.00001
|
|
NM_001018005.2(TPM1):c.105G>C (p.Arg35Ser)
|
rs1448738061
|
0.00001
|
|
NM_001018005.2(TPM1):c.114+3C>T
|
rs112677344
|
0.00001
|
|
NM_001018005.2(TPM1):c.114+4T>C
|
rs745777320
|
0.00001
|
|
NM_001018005.2(TPM1):c.115-226C>T
|
rs1367107306
|
0.00001
|
|
NM_001018005.2(TPM1):c.115-244G>A
|
rs989115520
|
0.00001
|
|
NM_001018005.2(TPM1):c.115-261C>T
|
rs746952638
|
0.00001
|
|
NM_001018005.2(TPM1):c.115-275A>T
|
rs730881132
|
0.00001
|
|
NM_001018005.2(TPM1):c.115-307C>T
|
rs771867998
|
0.00001
|
|
NM_001018005.2(TPM1):c.115-334C>T
|
rs1392145197
|
0.00001
|
|
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter)
|
rs104894501
|
0.00001
|
|
NM_001018005.2(TPM1):c.138G>A (p.Leu46=)
|
rs200509525
|
0.00001
|
|
NM_001018005.2(TPM1):c.240+4488A>G
|
rs1180806328
|
0.00001
|
|
NM_001018005.2(TPM1):c.241-9T>C
|
rs377417143
|
0.00001
|
|
NM_001018005.2(TPM1):c.252C>T (p.Asp84=)
|
rs369617788
|
0.00001
|
|
NM_001018005.2(TPM1):c.272G>A (p.Arg91His)
|
rs1477561695
|
0.00001
|
|
NM_001018005.2(TPM1):c.273C>T (p.Arg91=)
|
rs1400074860
|
0.00001
|
|
NM_001018005.2(TPM1):c.288G>A (p.Glu96=)
|
rs192883939
|
0.00001
|
|
NM_001018005.2(TPM1):c.314G>A (p.Arg105His)
|
rs773149185
|
0.00001
|
|
NM_001018005.2(TPM1):c.39C>G (p.Leu13=)
|
rs1439080260
|
0.00001
|
|
NM_001018005.2(TPM1):c.438C>T (p.Ile146=)
|
rs1460142862
|
0.00001
|
|
NM_001018005.2(TPM1):c.444G>C (p.Leu148=)
|
rs376518788
|
0.00001
|
|
NM_001018005.2(TPM1):c.493-6C>T
|
rs397516374
|
0.00001
|
|
NM_001018005.2(TPM1):c.507G>C (p.Leu169=)
|
rs139663836
|
0.00001
|
|
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val)
|
rs397516376
|
0.00001
|
|
NM_001018005.2(TPM1):c.563+335G>A
|
rs1238095357
|
0.00001
|
|
NM_001018005.2(TPM1):c.563+6C>T
|
rs397516378
|
0.00001
|
|
NM_001018005.2(TPM1):c.564-9A>G
|
rs755689022
|
0.00001
|
|
NM_001018005.2(TPM1):c.573C>T (p.Ala191=)
|
rs780507307
|
0.00001
|
|
NM_001018005.2(TPM1):c.630G>T (p.Gln210His)
|
rs761816813
|
0.00001
|
|
NM_001018005.2(TPM1):c.684T>C (p.Leu228=)
|
rs397516384
|
0.00001
|
|
NM_001018005.2(TPM1):c.711T>C (p.Thr237=)
|
rs1237110600
|
0.00001
|
|
NM_001018005.2(TPM1):c.768A>G (p.Leu256=)
|
rs139650306
|
0.00001
|
|
NM_001018005.2(TPM1):c.774C>T (p.Asp258=)
|
rs762282433
|
0.00001
|
|
NM_001018005.2(TPM1):c.807C>T (p.Ala269=)
|
rs751778912
|
0.00001
|
|
NM_001018005.2(TPM1):c.828C>T (p.His276=)
|
rs368813394
|
0.00001
|
|
NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn)
|
rs397516391
|
0.00001
|
|
NM_001018005.2(TPM1):c.82G>C (p.Asp28His)
|
rs397516391
|
0.00001
|
|
NM_001018005.2(TPM1):c.837C>T (p.Asn279=)
|
rs397516393
|
0.00001
|
|
NM_001018005.2(TPM1):c.838G>A (p.Asp280Asn)
|
rs777635889
|
0.00001
|
|
NM_001018005.2(TPM1):c.840T>C (p.Asp280=)
|
rs749271066
|
0.00001
|
|
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val)
|
rs199476322
|
0.00001
|
|
NM_001018005.2(TPM1):c.852-5C>T
|
rs766724527
|
0.00001
|
|
NM_001035.3(RYR2):c.-10G>A
|
rs1248591116
|
0.00001
|
|
NM_001035.3(RYR2):c.-15A>G
|
rs772056240
|
0.00001
|
|
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=)
|
rs753175584
|
0.00001
|
|
NM_001035.3(RYR2):c.10047G>A (p.Ser3349=)
|
rs144428932
|
0.00001
|
|
NM_001035.3(RYR2):c.1006-13C>T
|
rs778738664
|
0.00001
|
|
NM_001035.3(RYR2):c.1006-6C>T
|
rs1010185386
|
0.00001
|
|
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe)
|
rs377712921
|
0.00001
|
|
NM_001035.3(RYR2):c.10119G>A (p.Leu3373=)
|
rs1363597090
|
0.00001
|
|
NM_001035.3(RYR2):c.10125A>G (p.Arg3375=)
|
rs764396074
|
0.00001
|
|
NM_001035.3(RYR2):c.10142+4T>C
|
rs397516496
|
0.00001
|
|
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=)
|
rs543120030
|
0.00001
|
|
NM_001035.3(RYR2):c.10189C>T (p.Arg3397Cys)
|
rs764084155
|
0.00001
|
|
NM_001035.3(RYR2):c.10191C>A (p.Arg3397=)
|
rs1029985619
|
0.00001
|
|
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)
|
rs779316628
|
0.00001
|
|
NM_001035.3(RYR2):c.10257C>T (p.Phe3419=)
|
rs748715725
|
0.00001
|
|
NM_001035.3(RYR2):c.10266G>C (p.Gln3422His)
|
rs368064371
|
0.00001
|
|
NM_001035.3(RYR2):c.10324-13C>G
|
rs1188052509
|
0.00001
|
|
NM_001035.3(RYR2):c.10361G>A (p.Arg3454His)
|
rs1229045575
|
0.00001
|
|
NM_001035.3(RYR2):c.10370A>C (p.Asp3457Ala)
|
rs544496844
|
0.00001
|
|
NM_001035.3(RYR2):c.1038A>G (p.Val346=)
|
rs796573345
|
0.00001
|
|
NM_001035.3(RYR2):c.10524A>T (p.Ile3508=)
|
rs770094996
|
0.00001
|
|
NM_001035.3(RYR2):c.10529G>A (p.Arg3510His)
|
rs375947003
|
0.00001
|
|
NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu)
|
rs375947003
|
0.00001
|
|
NM_001035.3(RYR2):c.10555-10T>C
|
rs540655909
|
0.00001
|
|
NM_001035.3(RYR2):c.10615G>A (p.Asp3539Asn)
|
rs766991919
|
0.00001
|
|
NM_001035.3(RYR2):c.10622C>A (p.Thr3541Asn)
|
rs1169415432
|
0.00001
|
|
NM_001035.3(RYR2):c.10637A>G (p.Lys3546Arg)
|
rs1011095512
|
0.00001
|
|
NM_001035.3(RYR2):c.10662A>T (p.Ile3554=)
|
rs1558290857
|
0.00001
|
|
NM_001035.3(RYR2):c.10681C>G (p.Leu3561Val)
|
rs1022428392
|
0.00001
|
|
NM_001035.3(RYR2):c.1077A>G (p.Ser359=)
|
rs727505317
|
0.00001
|
|
NM_001035.3(RYR2):c.1078G>A (p.Val360Ile)
|
rs773628016
|
0.00001
|
|
NM_001035.3(RYR2):c.10790G>A (p.Arg3597Lys)
|
rs757494145
|
0.00001
|
|
NM_001035.3(RYR2):c.10816G>A (p.Ala3606Thr)
|
rs772511386
|
0.00001
|
|
NM_001035.3(RYR2):c.1088T>C (p.Ile363Thr)
|
rs1360751290
|
0.00001
|
|
NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys)
|
rs748501600
|
0.00001
|
|
NM_001035.3(RYR2):c.10956A>G (p.Pro3652=)
|
rs765137450
|
0.00001
|
|
NM_001035.3(RYR2):c.10973C>G (p.Thr3658Ser)
|
rs766499417
|
0.00001
|
|
NM_001035.3(RYR2):c.10975A>G (p.Lys3659Glu)
|
rs184527312
|
0.00001
|
|
NM_001035.3(RYR2):c.10982T>C (p.Val3661Ala)
|
rs1163500187
|
0.00001
|
|
NM_001035.3(RYR2):c.11040-14C>G
|
rs1398488595
|
0.00001
|
|
NM_001035.3(RYR2):c.11040-3C>T
|
rs876657984
|
0.00001
|
|
NM_001035.3(RYR2):c.11040-6C>T
|
rs764492350
|
0.00001
|
|
NM_001035.3(RYR2):c.11040-8T>C
|
rs1346619924
|
0.00001
|
|
NM_001035.3(RYR2):c.11065A>G (p.Met3689Val)
|
rs1215940793
|
0.00001
|
|
NM_001035.3(RYR2):c.11092-3C>A
|
rs1349755343
|
0.00001
|
|
NM_001035.3(RYR2):c.11111A>G (p.Asp3704Gly)
|
rs1334028810
|
0.00001
|
|
NM_001035.3(RYR2):c.11112T>C (p.Asp3704=)
|
rs779013786
|
0.00001
|
|
NM_001035.3(RYR2):c.11119G>A (p.Gly3707Ser)
|
rs1262001748
|
0.00001
|
|
NM_001035.3(RYR2):c.11127G>A (p.Glu3709=)
|
rs777292211
|
0.00001
|
|
NM_001035.3(RYR2):c.11146-6G>A
|
rs886046277
|
0.00001
|
|
NM_001035.3(RYR2):c.11158G>C (p.Glu3720Gln)
|
rs770241781
|
0.00001
|
|
NM_001035.3(RYR2):c.11196C>T (p.His3732=)
|
rs774786081
|
0.00001
|
|
NM_001035.3(RYR2):c.11201G>A (p.Arg3734His)
|
rs1366611409
|
0.00001
|
|
NM_001035.3(RYR2):c.11207C>T (p.Ala3736Val)
|
rs1209754420
|
0.00001
|
|
NM_001035.3(RYR2):c.11223A>G (p.Leu3741=)
|
rs746806555
|
0.00001
|
|
NM_001035.3(RYR2):c.11229A>C (p.Thr3743=)
|
rs755203769
|
0.00001
|
|
NM_001035.3(RYR2):c.11252C>G (p.Thr3751Ser)
|
rs772768256
|
0.00001
|
|
NM_001035.3(RYR2):c.11265A>T (p.Val3755=)
|
rs762418123
|
0.00001
|
|
NM_001035.3(RYR2):c.11266G>A (p.Ala3756Thr)
|
rs942942966
|
0.00001
|
|
NM_001035.3(RYR2):c.112G>T (p.Ala38Ser)
|
rs747977592
|
0.00001
|
|
NM_001035.3(RYR2):c.11351A>G (p.Lys3784Arg)
|
rs1382429252
|
0.00001
|
|
NM_001035.3(RYR2):c.11402+6G>A
|
rs374183234
|
0.00001
|
|
NM_001035.3(RYR2):c.11477-14T>C
|
rs1219270773
|
0.00001
|
|
NM_001035.3(RYR2):c.11485G>A (p.Val3829Ile)
|
rs886524806
|
0.00001
|
|
NM_001035.3(RYR2):c.11552A>G (p.Asn3851Ser)
|
rs967116157
|
0.00001
|
|
NM_001035.3(RYR2):c.11558-15T>C
|
rs753142009
|
0.00001
|
|
NM_001035.3(RYR2):c.11565G>A (p.Gln3855=)
|
rs763196179
|
0.00001
|
|
NM_001035.3(RYR2):c.11592T>C (p.Asn3864=)
|
rs1335514890
|
0.00001
|
|
NM_001035.3(RYR2):c.1159A>C (p.Ile387Leu)
|
rs748169418
|
0.00001
|
|
NM_001035.3(RYR2):c.11601T>C (p.Thr3867=)
|
rs1226933021
|
0.00001
|
|
NM_001035.3(RYR2):c.11608A>G (p.Ile3870Val)
|
rs1333353951
|
0.00001
|
|
NM_001035.3(RYR2):c.11634A>G (p.Leu3878=)
|
rs587781143
|
0.00001
|
|
NM_001035.3(RYR2):c.11672A>T (p.Tyr3891Phe)
|
rs1430332496
|
0.00001
|
|
NM_001035.3(RYR2):c.1170+6G>T
|
rs192503034
|
0.00001
|
|
NM_001035.3(RYR2):c.1174A>G (p.Ile392Val)
|
rs574563209
|
0.00001
|
|
NM_001035.3(RYR2):c.11775+6C>A
|
rs758183625
|
0.00001
|
|
NM_001035.3(RYR2):c.11839T>C (p.Phe3947Leu)
|
rs1490290877
|
0.00001
|
|
NM_001035.3(RYR2):c.11894T>C (p.Ile3965Thr)
|
rs1272734214
|
0.00001
|
|
NM_001035.3(RYR2):c.11922G>A (p.Leu3974=)
|
rs769084479
|
0.00001
|
|
NM_001035.3(RYR2):c.11958A>G (p.Leu3986=)
|
rs762362078
|
0.00001
|
|
NM_001035.3(RYR2):c.11963-9T>C
|
rs113583794
|
0.00001
|
|
NM_001035.3(RYR2):c.11981C>T (p.Thr3994Met)
|
rs1488908381
|
0.00001
|
|
NM_001035.3(RYR2):c.11998G>A (p.Val4000Met)
|
rs773760019
|
0.00001
|
|
NM_001035.3(RYR2):c.12023A>G (p.Asn4008Ser)
|
rs1330847491
|
0.00001
|
|
NM_001035.3(RYR2):c.12057G>A (p.Met4019Ile)
|
rs763668006
|
0.00001
|
|
NM_001035.3(RYR2):c.12153G>A (p.Ala4051=)
|
rs768288201
|
0.00001
|
|
NM_001035.3(RYR2):c.12168G>A (p.Lys4056=)
|
rs1573932788
|
0.00001
|
|
NM_001035.3(RYR2):c.12183A>G (p.Ser4061=)
|
rs1429652269
|
0.00001
|
|
NM_001035.3(RYR2):c.12192A>C (p.Glu4064Asp)
|
rs1172947190
|
0.00001
|
|
NM_001035.3(RYR2):c.12210G>A (p.Ala4070=)
|
rs757703714
|
0.00001
|
|
NM_001035.3(RYR2):c.12217G>A (p.Asp4073Asn)
|
rs768341298
|
0.00001
|
|
NM_001035.3(RYR2):c.12244G>A (p.Glu4082Lys)
|
rs774241742
|
0.00001
|
|
NM_001035.3(RYR2):c.12273G>A (p.Ala4091=)
|
rs966083978
|
0.00001
|
|
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser)
|
rs753850982
|
0.00001
|
|
NM_001035.3(RYR2):c.12292G>A (p.Val4098Ile)
|
rs1047248475
|
0.00001
|
|
NM_001035.3(RYR2):c.12298G>A (p.Val4100Ile)
|
rs758785338
|
0.00001
|
|
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=)
|
rs184625125
|
0.00001
|
|
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=)
|
rs748716535
|
0.00001
|
|
NM_001035.3(RYR2):c.12336T>C (p.Asp4112=)
|
rs770434178
|
0.00001
|
|
NM_001035.3(RYR2):c.12366A>G (p.Ala4122=)
|
rs373185648
|
0.00001
|
|
NM_001035.3(RYR2):c.12397C>T (p.Leu4133=)
|
rs1553322794
|
0.00001
|
|
NM_001035.3(RYR2):c.12404G>A (p.Arg4135His)
|
rs764202302
|
0.00001
|
|
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)
|
rs764698152
|
0.00001
|
|
NM_001035.3(RYR2):c.12435C>T (p.Ile4145=)
|
rs954641240
|
0.00001
|
|
NM_001035.3(RYR2):c.12471A>G (p.Arg4157=)
|
rs751897207
|
0.00001
|
|
NM_001035.3(RYR2):c.12489C>T (p.Pro4163=)
|
rs777321777
|
0.00001
|
|
NM_001035.3(RYR2):c.12497A>G (p.Lys4166Arg)
|
rs1450189858
|
0.00001
|
|
NM_001035.3(RYR2):c.12621G>A (p.Ser4207=)
|
rs969138992
|
0.00001
|
|
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=)
|
rs3753631
|
0.00001
|
|
NM_001035.3(RYR2):c.12639G>C (p.Glu4213Asp)
|
rs1695374375
|
0.00001
|
|
NM_001035.3(RYR2):c.12660A>C (p.Glu4220Asp)
|
rs1323430299
|
0.00001
|
|
NM_001035.3(RYR2):c.12684G>T (p.Glu4228Asp)
|
rs776421571
|
0.00001
|
|
NM_001035.3(RYR2):c.12692C>T (p.Pro4231Leu)
|
rs1321340277
|
0.00001
|
|
NM_001035.3(RYR2):c.12693G>A (p.Pro4231=)
|
rs748387463
|
0.00001
|
|
NM_001035.3(RYR2):c.12700G>A (p.Ala4234Thr)
|
rs773317989
|
0.00001
|
|
NM_001035.3(RYR2):c.12720G>C (p.Thr4240=)
|
rs774851947
|
0.00001
|
|
NM_001035.3(RYR2):c.1272C>G (p.Phe424Leu)
|
rs767394797
|
0.00001
|
|
NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln)
|
rs371396204
|
0.00001
|
|
NM_001035.3(RYR2):c.12826G>A (p.Val4276Met)
|
rs368599791
|
0.00001
|
|
NM_001035.3(RYR2):c.1284A>T (p.Arg428Ser)
|
rs777771262
|
0.00001
|
|
NM_001035.3(RYR2):c.12906C>T (p.Phe4302=)
|
rs1265667422
|
0.00001
|
|
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)
|
rs769146715
|
0.00001
|
|
NM_001035.3(RYR2):c.1293-15T>C
|
rs767484802
|
0.00001
|
|
NM_001035.3(RYR2):c.1293-7A>G
|
rs1185030643
|
0.00001
|
|
NM_001035.3(RYR2):c.12958G>A (p.Glu4320Lys)
|
rs1409819668
|
0.00001
|
|
NM_001035.3(RYR2):c.12960A>G (p.Glu4320=)
|
rs1456795811
|
0.00001
|
|
NM_001035.3(RYR2):c.12991T>C (p.Leu4331=)
|
rs1327823442
|
0.00001
|
|
NM_001035.3(RYR2):c.13061T>G (p.Leu4354Arg)
|
rs1361307283
|
0.00001
|
|
NM_001035.3(RYR2):c.13079C>T (p.Ser4360Phe)
|
rs982384666
|
0.00001
|
|
NM_001035.3(RYR2):c.13088T>C (p.Leu4363Pro)
|
rs762239413
|
0.00001
|
|
NM_001035.3(RYR2):c.13093G>A (p.Asp4365Asn)
|
rs372880584
|
0.00001
|
|
NM_001035.3(RYR2):c.13112A>G (p.Glu4371Gly)
|
rs1695416603
|
0.00001
|
|
NM_001035.3(RYR2):c.13160A>G (p.Glu4387Gly)
|
rs1190034895
|
0.00001
|
|
NM_001035.3(RYR2):c.13216A>T (p.Met4406Leu)
|
rs1328615953
|
0.00001
|
|
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)
|
rs755585430
|
0.00001
|
|
NM_001035.3(RYR2):c.13252A>G (p.Lys4418Glu)
|
rs1029442866
|
0.00001
|
|
NM_001035.3(RYR2):c.13261-11A>T
|
rs1391876423
|
0.00001
|
|
NM_001035.3(RYR2):c.13301A>C (p.Glu4434Ala)
|
rs771286329
|
0.00001
|
|
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=)
|
rs768161152
|
0.00001
|
|
NM_001035.3(RYR2):c.13328+3A>G
|
rs776115513
|
0.00001
|
|
NM_001035.3(RYR2):c.13329-10G>C
|
rs754319442
|
0.00001
|
|
NM_001035.3(RYR2):c.13351G>A (p.Glu4451Lys)
|
rs780734342
|
0.00001
|
|
NM_001035.3(RYR2):c.1335C>T (p.Val445=)
|
rs573201028
|
0.00001
|
|
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg)
|
rs747584325
|
0.00001
|
|
NM_001035.3(RYR2):c.13379A>G (p.Gln4460Arg)
|
rs762879895
|
0.00001
|
|
NM_001035.3(RYR2):c.13399A>G (p.Thr4467Ala)
|
rs774270919
|
0.00001
|
|
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=)
|
rs183933829
|
0.00001
|
|
NM_001035.3(RYR2):c.13423G>A (p.Val4475Met)
|
rs1275899087
|
0.00001
|
|
NM_001035.3(RYR2):c.13425G>T (p.Val4475=)
|
rs760691911
|
0.00001
|
|
NM_001035.3(RYR2):c.1343C>T (p.Pro448Leu)
|
rs759603395
|
0.00001
|
|
NM_001035.3(RYR2):c.13449A>G (p.Lys4483=)
|
rs1008224442
|
0.00001
|
|
NM_001035.3(RYR2):c.13457C>G (p.Ala4486Gly)
|
rs779309213
|
0.00001
|
|
NM_001035.3(RYR2):c.1345A>G (p.Ile449Val)
|
rs775428443
|
0.00001
|
|
NM_001035.3(RYR2):c.1346T>G (p.Ile449Arg)
|
rs373331669
|
0.00001
|
|
NM_001035.3(RYR2):c.13504A>C (p.Met4502Leu)
|
rs876657985
|
0.00001
|
|
NM_001035.3(RYR2):c.13526T>C (p.Val4509Ala)
|
rs1209033509
|
0.00001
|
|
NM_001035.3(RYR2):c.1353C>T (p.Ser451=)
|
rs764245031
|
0.00001
|
|
NM_001035.3(RYR2):c.13564-7G>C
|
rs765254375
|
0.00001
|
|
NM_001035.3(RYR2):c.13604C>T (p.Thr4535Met)
|
rs756839134
|
0.00001
|
|
NM_001035.3(RYR2):c.13623T>C (p.Asn4541=)
|
rs1389335931
|
0.00001
|
|
NM_001035.3(RYR2):c.13624G>A (p.Ala4542Thr)
|
rs1296705206
|
0.00001
|
|
NM_001035.3(RYR2):c.13647C>T (p.Ser4549=)
|
rs1166610736
|
0.00001
|
|
NM_001035.3(RYR2):c.13655A>G (p.His4552Arg)
|
rs768299786
|
0.00001
|
|
NM_001035.3(RYR2):c.13656T>C (p.His4552=)
|
rs397516512
|
0.00001
|
|
NM_001035.3(RYR2):c.13661T>C (p.Ile4554Thr)
|
rs1234650666
|
0.00001
|
|
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)
|
rs375213838
|
0.00001
|
|
NM_001035.3(RYR2):c.13681C>T (p.Leu4561=)
|
rs372599604
|
0.00001
|
|
NM_001035.3(RYR2):c.13683A>G (p.Leu4561=)
|
rs771433722
|
0.00001
|
|
NM_001035.3(RYR2):c.13734G>A (p.Leu4578=)
|
rs1268914442
|
0.00001
|
|
NM_001035.3(RYR2):c.13743C>G (p.Val4581=)
|
rs377670364
|
0.00001
|
|
NM_001035.3(RYR2):c.13788A>T (p.Pro4596=)
|
rs368675632
|
0.00001
|
|
NM_001035.3(RYR2):c.13902A>C (p.Val4634=)
|
rs1449876826
|
0.00001
|
|
NM_001035.3(RYR2):c.13908C>T (p.Asn4636=)
|
rs1658777726
|
0.00001
|
|
NM_001035.3(RYR2):c.1392C>A (p.His464Gln)
|
rs749032742
|
0.00001
|
|
NM_001035.3(RYR2):c.13959T>C (p.Val4653=)
|
rs1659473477
|
0.00001
|
|
NM_001035.3(RYR2):c.13976A>G (p.Glu4659Gly)
|
rs749030677
|
0.00001
|
|
NM_001035.3(RYR2):c.14024C>A (p.Ala4675Glu)
|
rs1172831046
|
0.00001
|
|
NM_001035.3(RYR2):c.14031G>A (p.Leu4677=)
|
rs1334803515
|
0.00001
|
|
NM_001035.3(RYR2):c.14041G>A (p.Asp4681Asn)
|
rs1478475074
|
0.00001
|
|
NM_001035.3(RYR2):c.14055G>A (p.Lys4685=)
|
rs765409439
|
0.00001
|
|
NM_001035.3(RYR2):c.1405C>T (p.His469Tyr)
|
rs776288769
|
0.00001
|
|
NM_001035.3(RYR2):c.14098T>G (p.Ser4700Ala)
|
rs766629125
|
0.00001
|
|
NM_001035.3(RYR2):c.14151C>T (p.Asn4717=)
|
rs1479892874
|
0.00001
|
|
NM_001035.3(RYR2):c.14152-3T>C
|
rs376797615
|
0.00001
|
|
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)
|
rs765389300
|
0.00001
|
|
NM_001035.3(RYR2):c.1424A>G (p.Lys475Arg)
|
rs750510651
|
0.00001
|
|
NM_001035.3(RYR2):c.14302G>A (p.Val4768Ile)
|
rs775534249
|
0.00001
|
|
NM_001035.3(RYR2):c.14369G>A (p.Arg4790Gln)
|
rs750780758
|
0.00001
|
|
NM_001035.3(RYR2):c.1438C>T (p.Arg480Ter)
|
rs1340830020
|
0.00001
|
|
NM_001035.3(RYR2):c.14409T>C (p.Asp4803=)
|
rs878891404
|
0.00001
|
|
NM_001035.3(RYR2):c.14415A>G (p.Lys4805=)
|
rs397516515
|
0.00001
|
|
NM_001035.3(RYR2):c.14502A>G (p.Pro4834=)
|
rs368463791
|
0.00001
|
|
NM_001035.3(RYR2):c.14733G>A (p.Gln4911=)
|
rs751453181
|
0.00001
|
|
NM_001035.3(RYR2):c.14757-14C>A
|
rs1574129539
|
0.00001
|
|
NM_001035.3(RYR2):c.1476+5G>A
|
rs778668388
|
0.00001
|
|
NM_001035.3(RYR2):c.1477-7G>A
|
rs763127313
|
0.00001
|
|
NM_001035.3(RYR2):c.14781C>T (p.Asn4927=)
|
rs559218380
|
0.00001
|
|
NM_001035.3(RYR2):c.14826G>A (p.Lys4942=)
|
rs1379152907
|
0.00001
|
|
NM_001035.3(RYR2):c.14841G>T (p.Arg4947Ser)
|
rs1252294768
|
0.00001
|
|
NM_001035.3(RYR2):c.14850A>G (p.Glu4950=)
|
rs947052066
|
0.00001
|
|
NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser)
|
rs758500988
|
0.00001
|
|
NM_001035.3(RYR2):c.14884T>A (p.Tyr4962Asn)
|
rs748937501
|
0.00001
|
|
NM_001035.3(RYR2):c.1492G>A (p.Val498Met)
|
rs760100468
|
0.00001
|
|
NM_001035.3(RYR2):c.1504A>G (p.Ile502Val)
|
rs1309242606
|
0.00001
|
|
NM_001035.3(RYR2):c.1509C>A (p.Asp503Glu)
|
rs764532025
|
0.00001
|
|
NM_001035.3(RYR2):c.1527C>T (p.Ser509=)
|
rs886042568
|
0.00001
|
|
NM_001035.3(RYR2):c.1537C>G (p.His513Asp)
|
rs1230792928
|
0.00001
|
|
NM_001035.3(RYR2):c.1573T>G (p.Ser525Ala)
|
rs1207389001
|
0.00001
|
|
NM_001035.3(RYR2):c.1613-9C>T
|
rs757051500
|
0.00001
|
|
NM_001035.3(RYR2):c.1698A>C (p.Glu566Asp)
|
rs1397154786
|
0.00001
|
|
NM_001035.3(RYR2):c.1699G>C (p.Ala567Pro)
|
rs753758467
|
0.00001
|
|
NM_001035.3(RYR2):c.171T>C (p.Asn57=)
|
rs1355336223
|
0.00001
|
|
NM_001035.3(RYR2):c.1775G>A (p.Gly592Glu)
|
rs794728724
|
0.00001
|
|
NM_001035.3(RYR2):c.177C>T (p.Pro59=)
|
rs1274699222
|
0.00001
|
|
NM_001035.3(RYR2):c.1828G>T (p.Val610Phe)
|
rs1304783030
|
0.00001
|
|
NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg)
|
rs376243998
|
0.00001
|
|
NM_001035.3(RYR2):c.1903A>C (p.Asn635His)
|
rs768241033
|
0.00001
|
|
NM_001035.3(RYR2):c.1909C>A (p.Leu637Ile)
|
rs1159892117
|
0.00001
|
|
NM_001035.3(RYR2):c.1911A>G (p.Leu637=)
|
rs776010491
|
0.00001
|
|
NM_001035.3(RYR2):c.1930T>C (p.Leu644=)
|
rs373160383
|
0.00001
|
|
NM_001035.3(RYR2):c.1963A>T (p.Met655Leu)
|
rs1664091653
|
0.00001
|
|
NM_001035.3(RYR2):c.1976T>G (p.Ile659Ser)
|
rs753013388
|
0.00001
|
|
NM_001035.3(RYR2):c.1987G>A (p.Val663Ile)
|
rs374277541
|
0.00001
|
|
NM_001035.3(RYR2):c.2006A>G (p.Gln669Arg)
|
rs1481345595
|
0.00001
|
|
NM_001035.3(RYR2):c.2050C>A (p.Pro684Thr)
|
rs1553473182
|
0.00001
|
|
NM_001035.3(RYR2):c.2081G>A (p.Arg694Gln)
|
rs190787113
|
0.00001
|
|
NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys)
|
rs748762074
|
0.00001
|
|
NM_001035.3(RYR2):c.2125G>T (p.Gly709Trp)
|
rs775143324
|
0.00001
|
|
NM_001035.3(RYR2):c.2146A>G (p.Asn716Asp)
|
rs1395171532
|
0.00001
|
|
NM_001035.3(RYR2):c.2174A>G (p.Tyr725Cys)
|
rs776700027
|
0.00001
|
|
NM_001035.3(RYR2):c.2175T>C (p.Tyr725=)
|
rs758813812
|
0.00001
|
|
NM_001035.3(RYR2):c.2203+3_2203+4dup
|
rs730880376
|
0.00001
|
|
NM_001035.3(RYR2):c.2204-14T>G
|
rs767973692
|
0.00001
|
|
NM_001035.3(RYR2):c.2215C>T (p.Arg739Cys)
|
rs1170501862
|
0.00001
|
|
NM_001035.3(RYR2):c.2216G>A (p.Arg739His)
|
rs955065308
|
0.00001
|
|
NM_001035.3(RYR2):c.2223A>G (p.Val741=)
|
rs117242563
|
0.00001
|
|
NM_001035.3(RYR2):c.2253T>G (p.Thr751=)
|
rs762905211
|
0.00001
|
|
NM_001035.3(RYR2):c.226C>T (p.Arg76Trp)
|
rs542777295
|
0.00001
|
|
NM_001035.3(RYR2):c.2275T>A (p.Leu759Ile)
|
rs768063536
|
0.00001
|
|
NM_001035.3(RYR2):c.2294G>A (p.Ser765Asn)
|
rs764934687
|
0.00001
|
|
NM_001035.3(RYR2):c.2306G>A (p.Arg769Gln)
|
rs754901791
|
0.00001
|
|
NM_001035.3(RYR2):c.2350A>T (p.Ile784Phe)
|
rs794728729
|
0.00001
|
|
NM_001035.3(RYR2):c.2356G>A (p.Gly786Ser)
|
rs1664560589
|
0.00001
|
|
NM_001035.3(RYR2):c.2379T>C (p.Ser793=)
|
rs1230175710
|
0.00001
|
|
NM_001035.3(RYR2):c.2394A>G (p.Ile798Met)
|
rs192876953
|
0.00001
|
|
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu)
|
rs371157868
|
0.00001
|
|
NM_001035.3(RYR2):c.2420G>A (p.Arg807Gln)
|
rs753611255
|
0.00001
|
|
NM_001035.3(RYR2):c.2423A>G (p.His808Arg)
|
rs757443712
|
0.00001
|
|
NM_001035.3(RYR2):c.2454G>C (p.Gly818=)
|
rs769137517
|
0.00001
|
|
NM_001035.3(RYR2):c.2513G>A (p.Arg838Gln)
|
rs764043352
|
0.00001
|
|
NM_001035.3(RYR2):c.2551C>T (p.Leu851=)
|
rs1487401743
|
0.00001
|
|
NM_001035.3(RYR2):c.256G>A (p.Val86Met)
|
rs1217618479
|
0.00001
|
|
NM_001035.3(RYR2):c.2603A>G (p.Asp868Gly)
|
rs1272250863
|
0.00001
|
|
NM_001035.3(RYR2):c.2614-11G>C
|
rs778125348
|
0.00001
|
|
NM_001035.3(RYR2):c.2614-12T>C
|
rs928458049
|
0.00001
|
|
NM_001035.3(RYR2):c.2632C>T (p.Leu878=)
|
rs376834009
|
0.00001
|
|
NM_001035.3(RYR2):c.2642T>G (p.Ile881Arg)
|
rs762792701
|
0.00001
|
|
NM_001035.3(RYR2):c.2650A>G (p.Lys884Glu)
|
rs767642846
|
0.00001
|
|
NM_001035.3(RYR2):c.2656G>C (p.Ala886Pro)
|
rs752663219
|
0.00001
|
|
NM_001035.3(RYR2):c.2663A>G (p.Asn888Ser)
|
rs1289969599
|
0.00001
|
|
NM_001035.3(RYR2):c.2719-10C>A
|
rs898992768
|
0.00001
|
|
NM_001035.3(RYR2):c.2719-4T>A
|
rs397516523
|
0.00001
|
|
NM_001035.3(RYR2):c.2745C>T (p.His915=)
|
rs754398749
|
0.00001
|
|
NM_001035.3(RYR2):c.2784G>A (p.Glu928=)
|
rs1183256756
|
0.00001
|
|
NM_001035.3(RYR2):c.2808G>A (p.Ser936=)
|
rs1057521205
|
0.00001
|
|
NM_001035.3(RYR2):c.284T>A (p.Val95Glu)
|
rs900519025
|
0.00001
|
|
NM_001035.3(RYR2):c.2922T>C (p.Ser974=)
|
rs750392459
|
0.00001
|
|
NM_001035.3(RYR2):c.2945A>G (p.Asp982Gly)
|
rs1461569961
|
0.00001
|
|
NM_001035.3(RYR2):c.295-8C>T
|
rs764545272
|
0.00001
|
|
NM_001035.3(RYR2):c.2957T>A (p.Ile986Asn)
|
rs1670049700
|
0.00001
|
|
NM_001035.3(RYR2):c.2960A>C (p.Lys987Thr)
|
rs1294571823
|
0.00001
|
|
NM_001035.3(RYR2):c.2969C>T (p.Pro990Leu)
|
rs912594681
|
0.00001
|
|
NM_001035.3(RYR2):c.2978A>G (p.Glu993Gly)
|
rs760019189
|
0.00001
|
|
NM_001035.3(RYR2):c.3026G>A (p.Arg1009Gln)
|
rs754812132
|
0.00001
|
|
NM_001035.3(RYR2):c.3037C>T (p.Arg1013Trp)
|
rs777740439
|
0.00001
|
|
NM_001035.3(RYR2):c.3067-14G>C
|
rs757471501
|
0.00001
|
|
NM_001035.3(RYR2):c.3069C>T (p.Asp1023=)
|
rs751382226
|
0.00001
|
|
NM_001035.3(RYR2):c.3070G>T (p.Val1024Leu)
|
rs1291873158
|
0.00001
|
|
NM_001035.3(RYR2):c.3089C>T (p.Pro1030Leu)
|
rs1404965456
|
0.00001
|
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
|
NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met)
|
rs779146564
|
0.00001
|
|
NM_001035.3(RYR2):c.3220A>G (p.Arg1074Gly)
|
rs1559038380
|
0.00001
|
|
NM_001035.3(RYR2):c.3226G>A (p.Glu1076Lys)
|
rs781547572
|
0.00001
|
|
NM_001035.3(RYR2):c.3240C>T (p.Gly1080=)
|
rs745511565
|
0.00001
|
|
NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg)
|
rs774797663
|
0.00001
|
|
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys)
|
rs730880191
|
0.00001
|
|
NM_001035.3(RYR2):c.3294C>T (p.Ala1098=)
|
rs773622667
|
0.00001
|
|
NM_001035.3(RYR2):c.3295G>A (p.Gly1099Arg)
|
rs767849564
|
0.00001
|
|
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)
|
rs886046265
|
0.00001
|
|
NM_001035.3(RYR2):c.3417C>T (p.Gly1139=)
|
rs1368724013
|
0.00001
|
|
NM_001035.3(RYR2):c.3424-4A>G
|
rs1170393191
|
0.00001
|
|
NM_001035.3(RYR2):c.3477C>A (p.Gly1159=)
|
rs780861754
|
0.00001
|
|
NM_001035.3(RYR2):c.3478G>A (p.Asp1160Asn)
|
rs1064794172
|
0.00001
|
|
NM_001035.3(RYR2):c.3514A>T (p.Thr1172Ser)
|
rs760782284
|
0.00001
|
|
NM_001035.3(RYR2):c.3517A>G (p.Met1173Val)
|
rs762372863
|
0.00001
|
|
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=)
|
rs397516526
|
0.00001
|
|
NM_001035.3(RYR2):c.3594C>T (p.Gly1198=)
|
rs185212949
|
0.00001
|
|
NM_001035.3(RYR2):c.3622G>A (p.Gly1208Arg)
|
rs770286824
|
0.00001
|
|
NM_001035.3(RYR2):c.3638G>C (p.Gly1213Ala)
|
rs766838912
|
0.00001
|
|
NM_001035.3(RYR2):c.3648C>T (p.Asn1216=)
|
rs983874662
|
0.00001
|
|
NM_001035.3(RYR2):c.365G>A (p.Arg122His)
|
rs727503396
|
0.00001
|
|
NM_001035.3(RYR2):c.3707A>G (p.Tyr1236Cys)
|
rs1421115838
|
0.00001
|
|
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=)
|
rs536080941
|
0.00001
|
|
NM_001035.3(RYR2):c.3735G>A (p.Arg1245=)
|
rs190884873
|
0.00001
|
|
NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu)
|
rs773915323
|
0.00001
|
|
NM_001035.3(RYR2):c.3839C>T (p.Ser1280Phe)
|
rs759424061
|
0.00001
|
|
NM_001035.3(RYR2):c.3890C>T (p.Thr1297Ile)
|
rs746350036
|
0.00001
|
|
NM_001035.3(RYR2):c.3894T>G (p.Asp1298Glu)
|
rs1383564773
|
0.00001
|
|
NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu)
|
rs769384124
|
0.00001
|
|
NM_001035.3(RYR2):c.3920C>T (p.Pro1307Leu)
|
rs1412253468
|
0.00001
|
|
NM_001035.3(RYR2):c.3924C>T (p.Ile1308=)
|
rs761010650
|
0.00001
|
|
NM_001035.3(RYR2):c.3931G>A (p.Ala1311Thr)
|
rs368635274
|
0.00001
|
|
NM_001035.3(RYR2):c.3955G>A (p.Ala1319Thr)
|
rs376526841
|
0.00001
|
|
NM_001035.3(RYR2):c.3973G>C (p.Ala1325Pro)
|
rs1043523829
|
0.00001
|
|
NM_001035.3(RYR2):c.3987G>A (p.Gly1329=)
|
rs775470259
|
0.00001
|
|
NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys)
|
rs765369749
|
0.00001
|
|
NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg)
|
rs193922625
|
0.00001
|
|
NM_001035.3(RYR2):c.4078G>A (p.Asp1360Asn)
|
rs1274140033
|
0.00001
|
|
NM_001035.3(RYR2):c.4097C>A (p.Thr1366Asn)
|
rs531412940
|
0.00001
|
|
NM_001035.3(RYR2):c.409C>T (p.Arg137Trp)
|
rs761916230
|
0.00001
|
|
NM_001035.3(RYR2):c.4121A>G (p.Lys1374Arg)
|
rs1675089718
|
0.00001
|
|
NM_001035.3(RYR2):c.412T>G (p.Ser138Ala)
|
rs765875891
|
0.00001
|
|
NM_001035.3(RYR2):c.4171A>G (p.Arg1391Gly)
|
rs371561223
|
0.00001
|
|
NM_001035.3(RYR2):c.4209A>G (p.Ala1403=)
|
rs727505126
|
0.00001
|
|
NM_001035.3(RYR2):c.4215C>T (p.Leu1405=)
|
rs754504287
|
0.00001
|
|
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)
|
rs727504850
|
0.00001
|
|
NM_001035.3(RYR2):c.4250A>G (p.Tyr1417Cys)
|
rs777557037
|
0.00001
|
|
NM_001035.3(RYR2):c.4266A>G (p.Gln1422=)
|
rs759662492
|
0.00001
|
|
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met)
|
rs761181641
|
0.00001
|
|
NM_001035.3(RYR2):c.4276-10A>G
|
rs551064291
|
0.00001
|
|
NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu)
|
rs769163639
|
0.00001
|
|
NM_001035.3(RYR2):c.4305A>G (p.Gly1435=)
|
rs776968385
|
0.00001
|
|
NM_001035.3(RYR2):c.4344A>G (p.Ser1448=)
|
rs1186500223
|
0.00001
|
|
NM_001035.3(RYR2):c.4359T>C (p.Tyr1453=)
|
rs1054102228
|
0.00001
|
|
NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)
|
rs764144130
|
0.00001
|
|
NM_001035.3(RYR2):c.4389C>T (p.Arg1463=)
|
rs1391863207
|
0.00001
|
|
NM_001035.3(RYR2):c.4428G>A (p.Val1476=)
|
rs747148516
|
0.00001
|
|
NM_001035.3(RYR2):c.4444C>T (p.Arg1482Cys)
|
rs564869863
|
0.00001
|
|
NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys)
|
rs1353376223
|
0.00001
|
|
NM_001035.3(RYR2):c.4458T>C (p.Tyr1486=)
|
rs780368223
|
0.00001
|
|
NM_001035.3(RYR2):c.4499G>A (p.Arg1500His)
|
rs749719028
|
0.00001
|
|
NM_001035.3(RYR2):c.4538C>T (p.Ala1513Val)
|
rs895086218
|
0.00001
|
|
NM_001035.3(RYR2):c.4585A>C (p.Thr1529Pro)
|
rs765195072
|
0.00001
|
|
NM_001035.3(RYR2):c.463+6C>T
|
rs397516533
|
0.00001
|
|
NM_001035.3(RYR2):c.4641T>G (p.Ala1547=)
|
rs1676561693
|
0.00001
|
|
NM_001035.3(RYR2):c.4653T>C (p.Asn1551=)
|
rs759834317
|
0.00001
|
|
NM_001035.3(RYR2):c.4666G>A (p.Glu1556Lys)
|
rs1048532590
|
0.00001
|
|
NM_001035.3(RYR2):c.4668G>A (p.Glu1556=)
|
rs370332700
|
0.00001
|
|
NM_001035.3(RYR2):c.4680A>C (p.Ile1560=)
|
rs754412394
|
0.00001
|
|
NM_001035.3(RYR2):c.4684-4C>T
|
rs748788260
|
0.00001
|
|
NM_001035.3(RYR2):c.468G>A (p.Glu156=)
|
rs763840882
|
0.00001
|
|
NM_001035.3(RYR2):c.4700C>T (p.Ser1567Leu)
|
rs772008541
|
0.00001
|
|
NM_001035.3(RYR2):c.4701G>A (p.Ser1567=)
|
rs775379095
|
0.00001
|
|
NM_001035.3(RYR2):c.4710A>G (p.Leu1570=)
|
rs1401322778
|
0.00001
|
|
NM_001035.3(RYR2):c.4723C>T (p.His1575Tyr)
|
rs397516535
|
0.00001
|
|
NM_001035.3(RYR2):c.4752G>A (p.Pro1584=)
|
rs780111656
|
0.00001
|
|
NM_001035.3(RYR2):c.4753C>T (p.Arg1585Cys)
|
rs528206995
|
0.00001
|
|
NM_001035.3(RYR2):c.4755C>T (p.Arg1585=)
|
rs768562077
|
0.00001
|
|
NM_001035.3(RYR2):c.4780G>A (p.Val1594Ile)
|
rs794728737
|
0.00001
|
|
NM_001035.3(RYR2):c.4791C>T (p.Ser1597=)
|
rs766910108
|
0.00001
|
|
NM_001035.3(RYR2):c.4793G>A (p.Arg1598Lys)
|
rs1056392680
|
0.00001
|
|
NM_001035.3(RYR2):c.4831A>G (p.Ile1611Val)
|
rs755572625
|
0.00001
|
|
NM_001035.3(RYR2):c.483C>T (p.Thr161=)
|
rs780513819
|
0.00001
|
|
NM_001035.3(RYR2):c.4840C>T (p.Arg1614Cys)
|
rs373079767
|
0.00001
|
|
NM_001035.3(RYR2):c.4841G>A (p.Arg1614His)
|
rs746943081
|
0.00001
|
|
NM_001035.3(RYR2):c.4846G>A (p.Gly1616Ser)
|
rs1414022182
|
0.00001
|
|
NM_001035.3(RYR2):c.4882A>G (p.Met1628Val)
|
rs757286828
|
0.00001
|
|
NM_001035.3(RYR2):c.489C>A (p.His163Gln)
|
rs1178843120
|
0.00001
|
|
NM_001035.3(RYR2):c.49-10C>T
|
rs760891474
|
0.00001
|
|
NM_001035.3(RYR2):c.49-8C>T
|
rs764876896
|
0.00001
|
|
NM_001035.3(RYR2):c.4904A>G (p.Glu1635Gly)
|
rs775882877
|
0.00001
|
|
NM_001035.3(RYR2):c.4915G>A (p.Val1639Ile)
|
rs1477625488
|
0.00001
|
|
NM_001035.3(RYR2):c.4950G>C (p.Leu1650Phe)
|
rs376251968
|
0.00001
|
|
NM_001035.3(RYR2):c.4975C>T (p.Arg1659Trp)
|
rs1483097607
|
0.00001
|
|
NM_001035.3(RYR2):c.5046A>C (p.Glu1682Asp)
|
rs3766870
|
0.00001
|
|
NM_001035.3(RYR2):c.5056C>T (p.Leu1686Phe)
|
rs752684338
|
0.00001
|
|
NM_001035.3(RYR2):c.505C>T (p.Arg169Ter)
|
rs749930577
|
0.00001
|
|
NM_001035.3(RYR2):c.5102G>C (p.Gly1701Ala)
|
rs750602360
|
0.00001
|
|
NM_001035.3(RYR2):c.5135G>A (p.Ser1712Asn)
|
rs1484043877
|
0.00001
|
|
NM_001035.3(RYR2):c.5136C>T (p.Ser1712=)
|
rs397516540
|
0.00001
|
|
NM_001035.3(RYR2):c.5189C>T (p.Thr1730Met)
|
rs745569662
|
0.00001
|
|
NM_001035.3(RYR2):c.5235A>G (p.Lys1745=)
|
rs755089780
|
0.00001
|
|
NM_001035.3(RYR2):c.5247A>G (p.Pro1749=)
|
rs779576294
|
0.00001
|
|
NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr)
|
rs397516542
|
0.00001
|
|
NM_001035.3(RYR2):c.5268C>G (p.Ser1756=)
|
rs768147036
|
0.00001
|
|
NM_001035.3(RYR2):c.5298C>T (p.Pro1766=)
|
rs570743152
|
0.00001
|
|
NM_001035.3(RYR2):c.5336G>A (p.Ser1779Asn)
|
rs778312204
|
0.00001
|
|
NM_001035.3(RYR2):c.5363A>C (p.Lys1788Thr)
|
rs779637196
|
0.00001
|
|
NM_001035.3(RYR2):c.5419C>T (p.Arg1807Trp)
|
rs752863160
|
0.00001
|
|
NM_001035.3(RYR2):c.5420G>A (p.Arg1807Gln)
|
rs730880192
|
0.00001
|
|
NM_001035.3(RYR2):c.5466C>T (p.Ile1822=)
|
rs1481865807
|
0.00001
|
|
NM_001035.3(RYR2):c.5487G>T (p.Leu1829=)
|
rs371250741
|
0.00001
|
|
NM_001035.3(RYR2):c.5499C>A (p.Ile1833=)
|
rs974906491
|
0.00001
|
|
NM_001035.3(RYR2):c.5542C>T (p.Pro1848Ser)
|
rs760731968
|
0.00001
|
|
NM_001035.3(RYR2):c.555C>T (p.Ser185=)
|
rs369484232
|
0.00001
|
|
NM_001035.3(RYR2):c.5583T>C (p.Ser1861=)
|
rs535205186
|
0.00001
|
|
NM_001035.3(RYR2):c.5589G>T (p.Thr1863=)
|
rs778971089
|
0.00001
|
|
NM_001035.3(RYR2):c.5590C>A (p.Leu1864Met)
|
rs1202498329
|
0.00001
|
|
NM_001035.3(RYR2):c.5591T>C (p.Leu1864Pro)
|
rs1175202566
|
0.00001
|
|
NM_001035.3(RYR2):c.5595G>A (p.Glu1865=)
|
rs1054011849
|
0.00001
|
|
NM_001035.3(RYR2):c.5645A>G (p.Glu1882Gly)
|
rs376441643
|
0.00001
|
|
NM_001035.3(RYR2):c.5664G>C (p.Arg1888=)
|
rs758277755
|
0.00001
|
|
NM_001035.3(RYR2):c.5680C>A (p.Leu1894Ile)
|
rs555692728
|
0.00001
|
|
NM_001035.3(RYR2):c.5684A>C (p.Gln1895Pro)
|
rs1468884704
|
0.00001
|
|
NM_001035.3(RYR2):c.5700G>A (p.Glu1900=)
|
rs769862888
|
0.00001
|
|
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=)
|
rs377763336
|
0.00001
|
|
NM_001035.3(RYR2):c.5717T>C (p.Met1906Thr)
|
rs748307254
|
0.00001
|
|
NM_001035.3(RYR2):c.5750A>G (p.Gln1917Arg)
|
rs777782696
|
0.00001
|
|
NM_001035.3(RYR2):c.5751G>T (p.Gln1917His)
|
rs1259517167
|
0.00001
|
|
NM_001035.3(RYR2):c.5755C>T (p.Arg1919Trp)
|
rs771469528
|
0.00001
|
|
NM_001035.3(RYR2):c.5820A>G (p.Gln1940=)
|
rs751449974
|
0.00001
|
|
NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser)
|
rs754811291
|
0.00001
|
|
NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu)
|
rs368669045
|
0.00001
|
|
NM_001035.3(RYR2):c.5874A>C (p.Thr1958=)
|
rs746302767
|
0.00001
|
|
NM_001035.3(RYR2):c.5933A>G (p.Asn1978Ser)
|
rs773006920
|
0.00001
|
|
NM_001035.3(RYR2):c.5949A>C (p.Lys1983Asn)
|
rs1181887323
|
0.00001
|
|
NM_001035.3(RYR2):c.5978G>A (p.Arg1993His)
|
rs551362343
|
0.00001
|
|
NM_001035.3(RYR2):c.6023-7A>G
|
rs771502164
|
0.00001
|
|
NM_001035.3(RYR2):c.6042T>C (p.Asp2014=)
|
rs376907409
|
0.00001
|
|
NM_001035.3(RYR2):c.6052G>A (p.Asp2018Asn)
|
rs763907565
|
0.00001
|
|
NM_001035.3(RYR2):c.6054T>G (p.Asp2018Glu)
|
rs1396015766
|
0.00001
|
|
NM_001035.3(RYR2):c.6159A>G (p.Lys2053=)
|
rs779498979
|
0.00001
|
|
NM_001035.3(RYR2):c.6167-15A>G
|
rs1559136122
|
0.00001
|
|
NM_001035.3(RYR2):c.6167-3C>T
|
rs1327145604
|
0.00001
|
|
NM_001035.3(RYR2):c.6167-4G>A
|
rs1290343163
|
0.00001
|
|
NM_001035.3(RYR2):c.616G>A (p.Ala206Thr)
|
rs930769080
|
0.00001
|
|
NM_001035.3(RYR2):c.6174G>A (p.Leu2058=)
|
rs531705847
|
0.00001
|
|
NM_001035.3(RYR2):c.6203G>A (p.Arg2068Gln)
|
rs869025512
|
0.00001
|
|
NM_001035.3(RYR2):c.6230A>G (p.Asp2077Gly)
|
rs1415188748
|
0.00001
|
|
NM_001035.3(RYR2):c.6233C>T (p.Pro2078Leu)
|
rs1158268722
|
0.00001
|
|
NM_001035.3(RYR2):c.6265C>T (p.His2089Tyr)
|
rs1057524513
|
0.00001
|
|
NM_001035.3(RYR2):c.6267T>C (p.His2089=)
|
rs1222494774
|
0.00001
|
|
NM_001035.3(RYR2):c.6321G>A (p.Thr2107=)
|
rs764476121
|
0.00001
|
|
NM_001035.3(RYR2):c.6336C>T (p.Ser2112=)
|
rs373777614
|
0.00001
|
|
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala)
|
rs780707255
|
0.00001
|
|
NM_001035.3(RYR2):c.6388C>T (p.Leu2130=)
|
rs1214664867
|
0.00001
|
|
NM_001035.3(RYR2):c.6393T>C (p.Ser2131=)
|
rs370087757
|
0.00001
|
|
NM_001035.3(RYR2):c.6415G>C (p.Glu2139Gln)
|
rs1418995790
|
0.00001
|
|
NM_001035.3(RYR2):c.6430C>T (p.Arg2144Cys)
|
rs770847446
|
0.00001
|
|
NM_001035.3(RYR2):c.6431G>A (p.Arg2144His)
|
rs1243083109
|
0.00001
|
|
NM_001035.3(RYR2):c.6468C>T (p.Tyr2156=)
|
rs1057522408
|
0.00001
|
|
NM_001035.3(RYR2):c.6504C>T (p.His2168=)
|
rs760237464
|
0.00001
|
|
NM_001035.3(RYR2):c.6519G>T (p.Glu2173Asp)
|
rs368920731
|
0.00001
|
|
NM_001035.3(RYR2):c.6534C>T (p.Val2178=)
|
rs904724019
|
0.00001
|
|
NM_001035.3(RYR2):c.6556-15A>G
|
rs1431223272
|
0.00001
|
|
NM_001035.3(RYR2):c.6618A>C (p.Ile2206=)
|
rs778352961
|
0.00001
|
|
NM_001035.3(RYR2):c.6689-9A>C
|
rs1680716293
|
0.00001
|
|
NM_001035.3(RYR2):c.6779C>T (p.Pro2260Leu)
|
rs746319435
|
0.00001
|
|
NM_001035.3(RYR2):c.6786A>G (p.Leu2262=)
|
rs747343896
|
0.00001
|
|
NM_001035.3(RYR2):c.6799C>T (p.Arg2267Cys)
|
rs554220274
|
0.00001
|
|
NM_001035.3(RYR2):c.6825A>G (p.Gln2275=)
|
rs529339356
|
0.00001
|
|
NM_001035.3(RYR2):c.6849G>C (p.Lys2283Asn)
|
rs1558114884
|
0.00001
|
|
NM_001035.3(RYR2):c.6952A>G (p.Asn2318Asp)
|
rs1006334960
|
0.00001
|
|
NM_001035.3(RYR2):c.6976C>T (p.Arg2326Trp)
|
rs1207293121
|
0.00001
|
|
NM_001035.3(RYR2):c.6981G>A (p.Arg2327=)
|
rs1198957149
|
0.00001
|
|
NM_001035.3(RYR2):c.7029T>A (p.Leu2343=)
|
rs1376856675
|
0.00001
|
|
NM_001035.3(RYR2):c.7040T>C (p.Met2347Thr)
|
rs1177415020
|
0.00001
|
|
NM_001035.3(RYR2):c.7055A>G (p.Lys2352Arg)
|
rs1378161090
|
0.00001
|
|
NM_001035.3(RYR2):c.7097G>A (p.Ser2366Asn)
|
rs1390457488
|
0.00001
|
|
NM_001035.3(RYR2):c.7117G>T (p.Asp2373Tyr)
|
rs397516548
|
0.00001
|
|
NM_001035.3(RYR2):c.7185G>A (p.Leu2395=)
|
rs769210153
|
0.00001
|
|
NM_001035.3(RYR2):c.7234G>A (p.Gly2412Arg)
|
rs550534270
|
0.00001
|
|
NM_001035.3(RYR2):c.7260G>A (p.Arg2420=)
|
rs771684537
|
0.00001
|
|
NM_001035.3(RYR2):c.7290A>G (p.Gly2430=)
|
rs765196007
|
0.00001
|
|
NM_001035.3(RYR2):c.7302C>T (p.Gly2434=)
|
rs766592875
|
0.00001
|
|
NM_001035.3(RYR2):c.7359A>G (p.Glu2453=)
|
rs779456443
|
0.00001
|
|
NM_001035.3(RYR2):c.7363G>A (p.Asp2455Asn)
|
rs956994660
|
0.00001
|
|
NM_001035.3(RYR2):c.7373C>T (p.Ala2458Val)
|
rs768478443
|
0.00001
|
|
NM_001035.3(RYR2):c.7374G>A (p.Ala2458=)
|
rs780891381
|
0.00001
|
|
NM_001035.3(RYR2):c.737C>T (p.Thr246Ile)
|
rs757478498
|
0.00001
|
|
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=)
|
rs759314800
|
0.00001
|
|
NM_001035.3(RYR2):c.7513-13G>A
|
rs1338880769
|
0.00001
|
|
NM_001035.3(RYR2):c.7513-4T>C
|
rs751840788
|
0.00001
|
|
NM_001035.3(RYR2):c.7528A>G (p.Thr2510Ala)
|
rs777279244
|
0.00001
|
|
NM_001035.3(RYR2):c.7529C>T (p.Thr2510Ile)
|
rs748865411
|
0.00001
|
|
NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile)
|
rs934248102
|
0.00001
|
|
NM_001035.3(RYR2):c.75C>T (p.Thr25=)
|
rs751027523
|
0.00001
|
|
NM_001035.3(RYR2):c.7658A>G (p.Tyr2553Cys)
|
rs1358268703
|
0.00001
|
|
NM_001035.3(RYR2):c.769C>T (p.Arg257Trp)
|
rs750477551
|
0.00001
|
|
NM_001035.3(RYR2):c.7733+3G>A
|
rs1014182598
|
0.00001
|
|
NM_001035.3(RYR2):c.7750A>G (p.Met2584Val)
|
rs772541555
|
0.00001
|
|
NM_001035.3(RYR2):c.7807G>A (p.Ala2603Thr)
|
rs59331340
|
0.00001
|
|
NM_001035.3(RYR2):c.7955T>A (p.Leu2652Gln)
|
rs748531950
|
0.00001
|
|
NM_001035.3(RYR2):c.795C>T (p.Gly265=)
|
rs189449390
|
0.00001
|
|
NM_001035.3(RYR2):c.796G>A (p.Ala266Thr)
|
rs373326624
|
0.00001
|
|
NM_001035.3(RYR2):c.8019G>A (p.Ala2673=)
|
rs745484020
|
0.00001
|
|
NM_001035.3(RYR2):c.8027T>C (p.Leu2676Ser)
|
rs1338788038
|
0.00001
|
|
NM_001035.3(RYR2):c.8028G>A (p.Leu2676=)
|
rs775159757
|
0.00001
|
|
NM_001035.3(RYR2):c.8058C>T (p.Val2686=)
|
rs761566087
|
0.00001
|
|
NM_001035.3(RYR2):c.8059A>T (p.Ser2687Cys)
|
rs1457097150
|
0.00001
|
|
NM_001035.3(RYR2):c.8063T>A (p.Met2688Lys)
|
rs1257768473
|
0.00001
|
|
NM_001035.3(RYR2):c.8065A>G (p.Met2689Val)
|
rs1440224644
|
0.00001
|
|
NM_001035.3(RYR2):c.8096G>A (p.Gly2699Glu)
|
rs750180419
|
0.00001
|
|
NM_001035.3(RYR2):c.8130-5C>T
|
rs1683411935
|
0.00001
|
|
NM_001035.3(RYR2):c.8130T>C (p.Asn2710=)
|
rs876661388
|
0.00001
|
|
NM_001035.3(RYR2):c.8143G>A (p.Glu2715Lys)
|
rs756472432
|
0.00001
|
|
NM_001035.3(RYR2):c.8149T>C (p.Leu2717=)
|
rs1296293752
|
0.00001
|
|
NM_001035.3(RYR2):c.819C>T (p.Ser273=)
|
rs746461178
|
0.00001
|
|
NM_001035.3(RYR2):c.8209-9T>C
|
rs1184943114
|
0.00001
|
|
NM_001035.3(RYR2):c.8228A>G (p.Tyr2743Cys)
|
rs368952500
|
0.00001
|
|
NM_001035.3(RYR2):c.8269A>G (p.Met2757Val)
|
rs376015452
|
0.00001
|
|
NM_001035.3(RYR2):c.8287T>C (p.Leu2763=)
|
rs1057520868
|
0.00001
|
|
NM_001035.3(RYR2):c.8291C>G (p.Ser2764Cys)
|
rs769728229
|
0.00001
|
|
NM_001035.3(RYR2):c.8298+5G>A
|
rs773129405
|
0.00001
|
|
NM_001035.3(RYR2):c.8310T>G (p.Ile2770Met)
|
rs974847063
|
0.00001
|
|
NM_001035.3(RYR2):c.8325C>T (p.Ile2775=)
|
rs1474322992
|
0.00001
|
|
NM_001035.3(RYR2):c.8363G>A (p.Arg2788Lys)
|
rs1374332710
|
0.00001
|
|
NM_001035.3(RYR2):c.836C>A (p.Thr279Lys)
|
rs754312807
|
0.00001
|
|
NM_001035.3(RYR2):c.836C>T (p.Thr279Met)
|
rs754312807
|
0.00001
|
|
NM_001035.3(RYR2):c.8377C>T (p.Arg2793Trp)
|
rs373172640
|
0.00001
|
|
NM_001035.3(RYR2):c.8392A>T (p.Met2798Leu)
|
rs1275797500
|
0.00001
|
|
NM_001035.3(RYR2):c.8410A>T (p.Thr2804Ser)
|
rs1192280862
|
0.00001
|
|
NM_001035.3(RYR2):c.8414G>A (p.Arg2805His)
|
rs1247067433
|
0.00001
|
|
NM_001035.3(RYR2):c.8450C>T (p.Ala2817Val)
|
rs765782802
|
0.00001
|
|
NM_001035.3(RYR2):c.848+1G>A
|
rs772984053
|
0.00001
|
|
NM_001035.3(RYR2):c.848C>T (p.Ala283Val)
|
rs1163526442
|
0.00001
|
|
NM_001035.3(RYR2):c.849-10T>C
|
rs771173251
|
0.00001
|
|
NM_001035.3(RYR2):c.849-12del
|
rs765156667
|
0.00001
|
|
NM_001035.3(RYR2):c.8493T>C (p.Val2831=)
|
rs755660659
|
0.00001
|
|
NM_001035.3(RYR2):c.8496A>G (p.Thr2832=)
|
rs375915461
|
0.00001
|
|
NM_001035.3(RYR2):c.84C>A (p.Ile28=)
|
rs1444362826
|
0.00001
|
|
NM_001035.3(RYR2):c.8559A>C (p.Ala2853=)
|
rs1381591533
|
0.00001
|
|
NM_001035.3(RYR2):c.8568G>A (p.Lys2856=)
|
rs887194766
|
0.00001
|
|
NM_001035.3(RYR2):c.8583G>A (p.Glu2861=)
|
rs1312234082
|
0.00001
|
|
NM_001035.3(RYR2):c.8591-6T>C
|
rs371383631
|
0.00001
|
|
NM_001035.3(RYR2):c.8621A>G (p.Tyr2874Cys)
|
rs1481998485
|
0.00001
|
|
NM_001035.3(RYR2):c.8631G>A (p.Leu2877=)
|
rs1060503848
|
0.00001
|
|
NM_001035.3(RYR2):c.8652G>A (p.Lys2884=)
|
rs758284122
|
0.00001
|
|
NM_001035.3(RYR2):c.865A>G (p.Ile289Val)
|
rs767673456
|
0.00001
|
|
NM_001035.3(RYR2):c.8681A>G (p.Lys2894Arg)
|
rs1374749880
|
0.00001
|
|
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=)
|
rs762521873
|
0.00001
|
|
NM_001035.3(RYR2):c.876A>T (p.Gly292=)
|
rs1306804742
|
0.00001
|
|
NM_001035.3(RYR2):c.8791C>T (p.Arg2931Cys)
|
rs777983238
|
0.00001
|
|
NM_001035.3(RYR2):c.8805A>G (p.Glu2935=)
|
rs915071961
|
0.00001
|
|
NM_001035.3(RYR2):c.881C>T (p.Pro294Leu)
|
rs750542606
|
0.00001
|
|
NM_001035.3(RYR2):c.8831-4A>G
|
rs1253963504
|
0.00001
|
|
NM_001035.3(RYR2):c.8896-9T>C
|
rs773401697
|
0.00001
|
|
NM_001035.3(RYR2):c.8899G>A (p.Val2967Ile)
|
rs751546090
|
0.00001
|
|
NM_001035.3(RYR2):c.8933A>T (p.His2978Leu)
|
rs767843817
|
0.00001
|
|
NM_001035.3(RYR2):c.893G>A (p.Arg298His)
|
rs754259295
|
0.00001
|
|
NM_001035.3(RYR2):c.8968C>T (p.Leu2990Phe)
|
rs746439954
|
0.00001
|
|
NM_001035.3(RYR2):c.8993A>G (p.Asn2998Ser)
|
rs1243409978
|
0.00001
|
|
NM_001035.3(RYR2):c.9021A>G (p.Leu3007=)
|
rs748115355
|
0.00001
|
|
NM_001035.3(RYR2):c.9050A>G (p.His3017Arg)
|
rs777560001
|
0.00001
|
|
NM_001035.3(RYR2):c.9116C>T (p.Thr3039Ile)
|
rs1175249332
|
0.00001
|
|
NM_001035.3(RYR2):c.9138G>A (p.Met3046Ile)
|
rs867521152
|
0.00001
|
|
NM_001035.3(RYR2):c.9213C>T (p.Thr3071=)
|
rs759125855
|
0.00001
|
|
NM_001035.3(RYR2):c.9284A>G (p.Asn3095Ser)
|
rs778591641
|
0.00001
|
|
NM_001035.3(RYR2):c.9293C>T (p.Thr3098Ile)
|
rs1227241969
|
0.00001
|
|
NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu)
|
rs745616771
|
0.00001
|
|
NM_001035.3(RYR2):c.9329A>C (p.Glu3110Ala)
|
rs1419674808
|
0.00001
|
|
NM_001035.3(RYR2):c.9338G>A (p.Gly3113Asp)
|
rs770278770
|
0.00001
|
|
NM_001035.3(RYR2):c.9351C>T (p.Phe3117=)
|
rs773455753
|
0.00001
|
|
NM_001035.3(RYR2):c.9367+3A>G
|
rs767212566
|
0.00001
|
|
NM_001035.3(RYR2):c.9399T>G (p.Ile3133Met)
|
rs1688007466
|
0.00001
|
|
NM_001035.3(RYR2):c.939C>T (p.Asn313=)
|
rs925308875
|
0.00001
|
|
NM_001035.3(RYR2):c.9407G>A (p.Ser3136Asn)
|
rs748194372
|
0.00001
|
|
NM_001035.3(RYR2):c.9414T>C (p.Tyr3138=)
|
rs770274059
|
0.00001
|
|
NM_001035.3(RYR2):c.9432G>A (p.Lys3144=)
|
rs367780360
|
0.00001
|
|
NM_001035.3(RYR2):c.9449+3A>G
|
rs1688012992
|
0.00001
|
|
NM_001035.3(RYR2):c.9454C>T (p.Arg3152Cys)
|
rs181105904
|
0.00001
|
|
NM_001035.3(RYR2):c.9506C>T (p.Ala3169Val)
|
rs1411593172
|
0.00001
|
|
NM_001035.3(RYR2):c.95A>C (p.Gln32Pro)
|
rs909314611
|
0.00001
|
|
NM_001035.3(RYR2):c.9603G>A (p.Val3201=)
|
rs369285719
|
0.00001
|
|
NM_001035.3(RYR2):c.9621C>T (p.Asn3207=)
|
rs1370012835
|
0.00001
|
|
NM_001035.3(RYR2):c.9625C>A (p.Pro3209Thr)
|
rs767375014
|
0.00001
|
|
NM_001035.3(RYR2):c.9626C>T (p.Pro3209Leu)
|
rs956317332
|
0.00001
|
|
NM_001035.3(RYR2):c.9627G>A (p.Pro3209=)
|
rs377730320
|
0.00001
|
|
NM_001035.3(RYR2):c.9667G>A (p.Glu3223Lys)
|
rs556291797
|
0.00001
|
|
NM_001035.3(RYR2):c.9679C>T (p.Arg3227Cys)
|
rs747271394
|
0.00001
|
|
NM_001035.3(RYR2):c.9680G>A (p.Arg3227His)
|
rs755897867
|
0.00001
|
|
NM_001035.3(RYR2):c.9691A>G (p.Met3231Val)
|
rs374899980
|
0.00001
|
|
NM_001035.3(RYR2):c.9692T>C (p.Met3231Thr)
|
rs1472732790
|
0.00001
|
|
NM_001035.3(RYR2):c.9703A>G (p.Met3235Val)
|
rs773957909
|
0.00001
|
|
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys)
|
rs1290534109
|
0.00001
|
|
NM_001035.3(RYR2):c.9768C>T (p.Asn3256=)
|
rs574525966
|
0.00001
|
|
NM_001035.3(RYR2):c.9772C>T (p.Pro3258Ser)
|
rs368028300
|
0.00001
|
|
NM_001035.3(RYR2):c.9778C>T (p.Arg3260Trp)
|
rs765325906
|
0.00001
|
|
NM_001035.3(RYR2):c.9779G>A (p.Arg3260Gln)
|
rs750415021
|
0.00001
|
|
NM_001035.3(RYR2):c.9813G>A (p.Glu3271=)
|
rs757310700
|
0.00001
|
|
NM_001035.3(RYR2):c.9817A>G (p.Met3273Val)
|
rs1365049763
|
0.00001
|
|
NM_001035.3(RYR2):c.9902-14C>T
|
rs1190539351
|
0.00001
|
|
NM_001035.3(RYR2):c.9903G>A (p.Val3301=)
|
rs756970130
|
0.00001
|
|
NM_001035.3(RYR2):c.9911A>G (p.Gln3304Arg)
|
rs794728766
|
0.00001
|
|
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=)
|
rs184937795
|
0.00001
|
|
NM_001035.3(RYR2):c.9942C>G (p.Leu3314=)
|
rs746973997
|
0.00001
|
|
NM_001035.3(RYR2):c.994C>T (p.Arg332Trp)
|
rs876657995
|
0.00001
|
|
NM_001035.3(RYR2):c.9962C>T (p.Pro3321Leu)
|
rs747933306
|
0.00001
|
|
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met)
|
rs774437805
|
0.00001
|
|
NM_001040113.2(MYH11):c.5821C>A (p.Gln1941Lys)
|
rs765457680
|
0.00001
|
|
NM_001040113.2(MYH11):c.5822A>G (p.Gln1941Arg)
|
rs761957202
|
0.00001
|
|
NM_001040113.2(MYH11):c.5836T>A (p.Ter1946Arg)
|
rs1365916121
|
0.00001
|
|
NM_001099404.2(SCN5A):c.651T>C (p.Ala217=)
|
rs202144207
|
0.00001
|
|
NM_001276345.2(TNNT2):c.100C>A (p.Gln34Lys)
|
rs1350800220
|
0.00001
|
|
NM_001276345.2(TNNT2):c.105G>T (p.Glu35Asp)
|
rs1660031053
|
0.00001
|
|
NM_001276345.2(TNNT2):c.135G>A (p.Glu45=)
|
rs756174289
|
0.00001
|
|
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=)
|
rs746492909
|
0.00001
|
|
NM_001276345.2(TNNT2):c.145G>A (p.Glu49Lys)
|
rs757526942
|
0.00001
|
|
NM_001276345.2(TNNT2):c.153C>G (p.Thr51=)
|
rs1347127737
|
0.00001
|
|
NM_001276345.2(TNNT2):c.164-11G>A
|
rs1410150306
|
0.00001
|
|
NM_001276345.2(TNNT2):c.164-13G>A
|
rs369469475
|
0.00001
|
|
NM_001276345.2(TNNT2):c.192G>A (p.Glu64=)
|
rs1180516886
|
0.00001
|
|
NM_001276345.2(TNNT2):c.200-4C>G
|
rs397516448
|
0.00001
|
|
NM_001276345.2(TNNT2):c.233+6T>C
|
rs397516449
|
0.00001
|
|
NM_001276345.2(TNNT2):c.234-3C>T
|
rs1361227759
|
0.00001
|
|
NM_001276345.2(TNNT2):c.24G>A (p.Val8=)
|
rs1431025119
|
0.00001
|
|
NM_001276345.2(TNNT2):c.255G>A (p.Val85=)
|
rs780115529
|
0.00001
|
|
NM_001276345.2(TNNT2):c.281dup (p.Val95fs)
|
rs780087395
|
0.00001
|
|
NM_001276345.2(TNNT2):c.297C>T (p.Asp99=)
|
rs771514445
|
0.00001
|
|
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)
|
rs397516456
|
0.00001
|
|
NM_001276345.2(TNNT2):c.33C>T (p.Tyr11=)
|
rs148027842
|
0.00001
|
|
NM_001276345.2(TNNT2):c.349G>A (p.Glu117Lys)
|
rs730881099
|
0.00001
|
|
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu)
|
rs727504331
|
0.00001
|
|
NM_001276345.2(TNNT2):c.390C>T (p.Leu130=)
|
rs758543857
|
0.00001
|
|
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=)
|
rs727504322
|
0.00001
|
|
NM_001276345.2(TNNT2):c.412-14C>A
|
rs745721749
|
0.00001
|
|
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)
|
rs397516463
|
0.00001
|
|
NM_001276345.2(TNNT2):c.419G>A (p.Arg140His)
|
rs1339922051
|
0.00001
|
|
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln)
|
rs754037135
|
0.00001
|
|
NM_001276345.2(TNNT2):c.450C>T (p.Ile150=)
|
rs200604266
|
0.00001
|
|
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)
|
rs730881101
|
0.00001
|
|
NM_001276345.2(TNNT2):c.459G>A (p.Glu153=)
|
rs775274966
|
0.00001
|
|
NM_001276345.2(TNNT2):c.472C>T (p.Arg158Trp)
|
rs730881123
|
0.00001
|
|
NM_001276345.2(TNNT2):c.487G>T (p.Ala163Ser)
|
rs727505030
|
0.00001
|
|
NM_001276345.2(TNNT2):c.490-1G>C
|
rs111344408
|
0.00001
|
|
NM_001276345.2(TNNT2):c.52+3A>C
|
rs763459940
|
0.00001
|
|
NM_001276345.2(TNNT2):c.522C>T (p.Asn174=)
|
rs483352833
|
0.00001
|
|
NM_001276345.2(TNNT2):c.601-1G>A
|
rs483352835
|
0.00001
|
|
NM_001276345.2(TNNT2):c.610-6C>T
|
rs45516702
|
0.00001
|
|
NM_001276345.2(TNNT2):c.613G>A (p.Glu205Lys)
|
rs150008205
|
0.00001
|
|
NM_001276345.2(TNNT2):c.659A>T (p.Lys220Met)
|
rs190805300
|
0.00001
|
|
NM_001276345.2(TNNT2):c.677G>A (p.Arg226Lys)
|
rs1205564576
|
0.00001
|
|
NM_001276345.2(TNNT2):c.68-9G>A
|
rs1221903769
|
0.00001
|
|
NM_001276345.2(TNNT2):c.720-14C>A
|
rs761998371
|
0.00001
|
|
NM_001276345.2(TNNT2):c.720-9C>A
|
rs763204242
|
0.00001
|
|
NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys)
|
rs200500421
|
0.00001
|
|
NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn)
|
rs141805127
|
0.00001
|
|
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile)
|
rs397516482
|
0.00001
|
|
NM_001276345.2(TNNT2):c.815A>G (p.Asn272Ser)
|
rs397516483
|
0.00001
|
|
NM_001276345.2(TNNT2):c.835A>G (p.Asn279Asp)
|
rs4523540
|
0.00001
|
|
NM_001276345.2(TNNT2):c.861C>A (p.Thr287=)
|
rs754211195
|
0.00001
|
|
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)
|
rs367785431
|
0.00001
|
|
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr)
|
rs772919504
|
0.00001
|
|
NM_001613.4(ACTA2):c.1109C>G (p.Ser370Cys)
|
rs749867078
|
0.00001
|
|
NM_001613.4(ACTA2):c.175G>A (p.Glu59Lys)
|
rs1306745024
|
0.00001
|
|
NM_001613.4(ACTA2):c.234C>T (p.Ile78=)
|
rs373518147
|
0.00001
|
|
NM_001613.4(ACTA2):c.258+6G>A
|
rs1415012145
|
0.00001
|
|
NM_001613.4(ACTA2):c.259-15C>A
|
rs1239079270
|
0.00001
|
|
NM_001613.4(ACTA2):c.259-8C>T
|
rs771519428
|
0.00001
|
|
NM_001613.4(ACTA2):c.281A>G (p.Asn94Ser)
|
rs756569259
|
0.00001
|
|
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly)
|
rs779757924
|
0.00001
|
|
NM_001613.4(ACTA2):c.303A>G (p.Glu101=)
|
rs757977826
|
0.00001
|
|
NM_001613.4(ACTA2):c.310C>T (p.Pro104Ser)
|
rs1156640249
|
0.00001
|
|
NM_001613.4(ACTA2):c.411T>A (p.Ala137=)
|
rs191977133
|
0.00001
|
|
NM_001613.4(ACTA2):c.455-11T>C
|
rs765499730
|
0.00001
|
|
NM_001613.4(ACTA2):c.51G>C (p.Gly17=)
|
rs1206769832
|
0.00001
|
|
NM_001613.4(ACTA2):c.567C>T (p.Asp189=)
|
rs764571918
|
0.00001
|
|
NM_001613.4(ACTA2):c.579G>A (p.Lys193=)
|
rs772458406
|
0.00001
|
|
NM_001613.4(ACTA2):c.616+6G>A
|
rs1270669606
|
0.00001
|
|
NM_001613.4(ACTA2):c.617-14T>C
|
rs776041033
|
0.00001
|
|
NM_001613.4(ACTA2):c.623G>A (p.Arg208His)
|
rs1057521703
|
0.00001
|
|
NM_001613.4(ACTA2):c.654G>A (p.Leu218=)
|
rs1437442292
|
0.00001
|
|
NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly)
|
rs757461793
|
0.00001
|
|
NM_001613.4(ACTA2):c.697G>A (p.Ala233Thr)
|
rs777810222
|
0.00001
|
|
NM_001613.4(ACTA2):c.722G>A (p.Ser241Asn)
|
rs756232774
|
0.00001
|
|
NM_001613.4(ACTA2):c.748A>C (p.Ile250Leu)
|
rs755463167
|
0.00001
|
|
NM_001613.4(ACTA2):c.775del (p.Cys259fs)
|
rs1178695989
|
0.00001
|
|
NM_001613.4(ACTA2):c.991-6T>C
|
rs1057521471
|
0.00001
|
|
NM_001943.5(DSG2):c.-12G>A
|
rs1011787097
|
0.00001
|
|
NM_001943.5(DSG2):c.-15G>A
|
rs727502982
|
0.00001
|
|
NM_001943.5(DSG2):c.1011T>G (p.Ile337Met)
|
rs751003065
|
0.00001
|
|
NM_001943.5(DSG2):c.1017A>G (p.Glu339=)
|
rs1325947416
|
0.00001
|
|
NM_001943.5(DSG2):c.1056T>A (p.Val352=)
|
rs969901158
|
0.00001
|
|
NM_001943.5(DSG2):c.105T>A (p.Asn35Lys)
|
rs1380949518
|
0.00001
|
|
NM_001943.5(DSG2):c.106A>G (p.Lys36Glu)
|
rs1441795357
|
0.00001
|
|
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr)
|
rs758537946
|
0.00001
|
|
NM_001943.5(DSG2):c.1095G>C (p.Arg365Ser)
|
rs749191457
|
0.00001
|
|
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu)
|
rs727505208
|
0.00001
|
|
NM_001943.5(DSG2):c.1116C>G (p.Pro372=)
|
rs542079618
|
0.00001
|
|
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys)
|
rs369214871
|
0.00001
|
|
NM_001943.5(DSG2):c.1173C>T (p.Ser391=)
|
rs763242004
|
0.00001
|
|
NM_001943.5(DSG2):c.1193G>A (p.Ser398Asn)
|
rs1481718957
|
0.00001
|
|
NM_001943.5(DSG2):c.1199G>A (p.Ser400Asn)
|
rs1188569362
|
0.00001
|
|
NM_001943.5(DSG2):c.1250A>T (p.Asp417Val)
|
rs1192016851
|
0.00001
|
|
NM_001943.5(DSG2):c.1262G>A (p.Gly421Glu)
|
rs1232284581
|
0.00001
|
|
NM_001943.5(DSG2):c.1281A>T (p.Arg427Ser)
|
rs370547219
|
0.00001
|
|
NM_001943.5(DSG2):c.1284T>C (p.Tyr428=)
|
rs202095254
|
0.00001
|
|
NM_001943.5(DSG2):c.128A>G (p.His43Arg)
|
rs370922106
|
0.00001
|
|
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser)
|
rs540113579
|
0.00001
|
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
|
NM_001943.5(DSG2):c.1434A>G (p.Arg478=)
|
rs755732646
|
0.00001
|
|
NM_001943.5(DSG2):c.1438A>G (p.Thr480Ala)
|
rs998496995
|
0.00001
|
|
NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile)
|
rs1598819592
|
0.00001
|
|
NM_001943.5(DSG2):c.1441A>G (p.Ile481Val)
|
rs368419383
|
0.00001
|
|
NM_001943.5(DSG2):c.1458T>C (p.Leu486=)
|
rs779518495
|
0.00001
|
|
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys)
|
rs762526848
|
0.00001
|
|
NM_001943.5(DSG2):c.1460T>G (p.Ile487Ser)
|
rs776525113
|
0.00001
|
|
NM_001943.5(DSG2):c.1484A>G (p.Asn495Ser)
|
rs1343972091
|
0.00001
|
|
NM_001943.5(DSG2):c.1489C>A (p.Pro497Thr)
|
rs1293179210
|
0.00001
|
|
NM_001943.5(DSG2):c.1499T>C (p.Ile500Thr)
|
rs769741655
|
0.00001
|
|
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr)
|
rs121913009
|
0.00001
|
|
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn)
|
rs753406968
|
0.00001
|
|
NM_001943.5(DSG2):c.1533G>A (p.Glu511=)
|
rs754553761
|
0.00001
|
|
NM_001943.5(DSG2):c.1537G>A (p.Val513Met)
|
rs1325342385
|
0.00001
|
|
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly)
|
rs730880077
|
0.00001
|
|
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys)
|
rs200484060
|
0.00001
|
|
NM_001943.5(DSG2):c.1596C>T (p.Ser532=)
|
rs775653162
|
0.00001
|
|
NM_001943.5(DSG2):c.160G>A (p.Ala54Thr)
|
rs549421694
|
0.00001
|
|
NM_001943.5(DSG2):c.1612C>T (p.Pro538Ser)
|
rs766053352
|
0.00001
|
|
NM_001943.5(DSG2):c.1652-8C>T
|
rs770497608
|
0.00001
|
|
NM_001943.5(DSG2):c.1754T>G (p.Val585Gly)
|
rs1226887053
|
0.00001
|
|
NM_001943.5(DSG2):c.1758T>C (p.Leu586=)
|
rs773812422
|
0.00001
|
|
NM_001943.5(DSG2):c.176G>A (p.Arg59Gln)
|
rs768794560
|
0.00001
|
|
NM_001943.5(DSG2):c.1814A>T (p.Asp605Val)
|
rs761157959
|
0.00001
|
|
NM_001943.5(DSG2):c.1826G>T (p.Gly609Val)
|
rs754168863
|
0.00001
|
|
NM_001943.5(DSG2):c.1829T>C (p.Leu610Pro)
|
rs755196345
|
0.00001
|
|
NM_001943.5(DSG2):c.1836C>T (p.Pro612=)
|
rs374288967
|
0.00001
|
|
NM_001943.5(DSG2):c.1843A>G (p.Ile615Val)
|
rs794728087
|
0.00001
|
|
NM_001943.5(DSG2):c.1880-11T>C
|
rs779853197
|
0.00001
|
|
NM_001943.5(DSG2):c.1947C>T (p.Gly649=)
|
rs1331421711
|
0.00001
|
|
NM_001943.5(DSG2):c.1957A>T (p.Met653Leu)
|
rs1382682032
|
0.00001
|
|
NM_001943.5(DSG2):c.1960C>T (p.Leu654=)
|
rs754792258
|
0.00001
|
|
NM_001943.5(DSG2):c.1996G>C (p.Asp666His)
|
rs771623047
|
0.00001
|
|
NM_001943.5(DSG2):c.2001+3C>G
|
rs746471051
|
0.00001
|
|
NM_001943.5(DSG2):c.2035G>A (p.Gly679Ser)
|
rs756896076
|
0.00001
|
|
NM_001943.5(DSG2):c.2070G>A (p.Met690Ile)
|
rs1408480908
|
0.00001
|
|
NM_001943.5(DSG2):c.2074A>G (p.Lys692Glu)
|
rs997161591
|
0.00001
|
|
NM_001943.5(DSG2):c.2110A>G (p.Ile704Val)
|
rs141388237
|
0.00001
|
|
NM_001943.5(DSG2):c.2111T>C (p.Ile704Thr)
|
rs759420598
|
0.00001
|
|
NM_001943.5(DSG2):c.2126A>G (p.His709Arg)
|
rs752557148
|
0.00001
|
|
NM_001943.5(DSG2):c.2136C>T (p.Ser712=)
|
rs762885119
|
0.00001
|
|
NM_001943.5(DSG2):c.2203G>A (p.Ala735Thr)
|
rs1179912383
|
0.00001
|
|
NM_001943.5(DSG2):c.220C>A (p.His74Asn)
|
rs772406363
|
0.00001
|
|
NM_001943.5(DSG2):c.2215A>G (p.Ile739Val)
|
rs772240008
|
0.00001
|
|
NM_001943.5(DSG2):c.222T>C (p.His74=)
|
rs367797047
|
0.00001
|
|
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)
|
rs727502989
|
0.00001
|
|
NM_001943.5(DSG2):c.2335-8C>G
|
rs561964101
|
0.00001
|
|
NM_001943.5(DSG2):c.233C>A (p.Ala78Glu)
|
rs769649528
|
0.00001
|
|
NM_001943.5(DSG2):c.2397T>C (p.Tyr799=)
|
rs200201181
|
0.00001
|
|
NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys)
|
rs794728090
|
0.00001
|
|
NM_001943.5(DSG2):c.2418G>A (p.Ser806=)
|
rs751831001
|
0.00001
|
|
NM_001943.5(DSG2):c.2442C>T (p.Cys814=)
|
rs1394059699
|
0.00001
|
|
NM_001943.5(DSG2):c.2491C>T (p.Leu831Phe)
|
rs763547599
|
0.00001
|
|
NM_001943.5(DSG2):c.2497T>A (p.Phe833Ile)
|
rs764461485
|
0.00001
|
|
NM_001943.5(DSG2):c.2525G>A (p.Gly842Asp)
|
rs374177723
|
0.00001
|
|
NM_001943.5(DSG2):c.2558A>G (p.Gln853Arg)
|
rs1567934468
|
0.00001
|
|
NM_001943.5(DSG2):c.2583A>G (p.Thr861=)
|
rs774775322
|
0.00001
|
|
NM_001943.5(DSG2):c.2614G>C (p.Glu872Gln)
|
rs754057911
|
0.00001
|
|
NM_001943.5(DSG2):c.2628T>C (p.Val876=)
|
rs775842543
|
0.00001
|
|
NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile)
|
rs760786694
|
0.00001
|
|
NM_001943.5(DSG2):c.2648C>T (p.Ser883Phe)
|
rs371498622
|
0.00001
|
|
NM_001943.5(DSG2):c.2676A>T (p.Lys892Asn)
|
rs1393096287
|
0.00001
|
|
NM_001943.5(DSG2):c.2681T>G (p.Leu894Trp)
|
rs759746836
|
0.00001
|
|
NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp)
|
rs765238150
|
0.00001
|
|
NM_001943.5(DSG2):c.2691C>G (p.Ala897=)
|
rs576107985
|
0.00001
|
|
NM_001943.5(DSG2):c.2694T>A (p.Asn898Lys)
|
rs1246005488
|
0.00001
|
|
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)
|
rs772744115
|
0.00001
|
|
NM_001943.5(DSG2):c.2710C>G (p.Gln904Glu)
|
rs372335085
|
0.00001
|
|
NM_001943.5(DSG2):c.2716A>G (p.Ile906Val)
|
rs748894535
|
0.00001
|
|
NM_001943.5(DSG2):c.2742T>C (p.Ser914=)
|
rs529198523
|
0.00001
|
|
NM_001943.5(DSG2):c.2750C>T (p.Ala917Val)
|
rs775670183
|
0.00001
|
|
NM_001943.5(DSG2):c.2751G>A (p.Ala917=)
|
rs763063602
|
0.00001
|
|
NM_001943.5(DSG2):c.2754A>G (p.Gln918=)
|
rs764157519
|
0.00001
|
|
NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg)
|
rs1408093009
|
0.00001
|
|
NM_001943.5(DSG2):c.2813C>A (p.Thr938Asn)
|
rs919875624
|
0.00001
|
|
NM_001943.5(DSG2):c.287A>T (p.Glu96Val)
|
rs2073123571
|
0.00001
|
|
NM_001943.5(DSG2):c.2908C>T (p.Pro970Ser)
|
rs758058872
|
0.00001
|
|
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile)
|
rs749540432
|
0.00001
|
|
NM_001943.5(DSG2):c.2965G>A (p.Glu989Lys)
|
rs748298838
|
0.00001
|
|
NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr)
|
rs1275376903
|
0.00001
|
|
NM_001943.5(DSG2):c.297T>C (p.Phe99=)
|
rs1045965107
|
0.00001
|
|
NM_001943.5(DSG2):c.2987G>A (p.Gly996Glu)
|
rs1567934945
|
0.00001
|
|
NM_001943.5(DSG2):c.2991T>A (p.Gly997=)
|
rs765129273
|
0.00001
|
|
NM_001943.5(DSG2):c.3013A>G (p.Thr1005Ala)
|
rs1386679487
|
0.00001
|
|
NM_001943.5(DSG2):c.3027A>G (p.Gln1009=)
|
rs1383834116
|
0.00001
|
|
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr)
|
rs886053716
|
0.00001
|
|
NM_001943.5(DSG2):c.3086T>C (p.Val1029Ala)
|
rs769806198
|
0.00001
|
|
NM_001943.5(DSG2):c.308T>C (p.Val103Ala)
|
rs876657790
|
0.00001
|
|
NM_001943.5(DSG2):c.3113T>C (p.Ile1038Thr)
|
rs543979536
|
0.00001
|
|
NM_001943.5(DSG2):c.31C>T (p.Leu11=)
|
rs1220091298
|
0.00001
|
|
NM_001943.5(DSG2):c.3205A>G (p.Met1069Val)
|
rs1024370144
|
0.00001
|
|
NM_001943.5(DSG2):c.3216G>A (p.Arg1072=)
|
rs1289097014
|
0.00001
|
|
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met)
|
rs943749481
|
0.00001
|
|
NM_001943.5(DSG2):c.3309T>C (p.Ser1103=)
|
rs1195224927
|
0.00001
|
|
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter)
|
rs753052874
|
0.00001
|
|
NM_001943.5(DSG2):c.379-4T>C
|
rs753141182
|
0.00001
|
|
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr)
|
rs373542380
|
0.00001
|
|
NM_001943.5(DSG2):c.445G>A (p.Val149Ile)
|
rs372606274
|
0.00001
|
|
NM_001943.5(DSG2):c.447T>C (p.Val149=)
|
rs1389484271
|
0.00001
|
|
NM_001943.5(DSG2):c.458A>G (p.Asn153Ser)
|
rs375597675
|
0.00001
|
|
NM_001943.5(DSG2):c.46-3C>T
|
rs777302616
|
0.00001
|
|
NM_001943.5(DSG2):c.465C>T (p.Asn155=)
|
rs751814575
|
0.00001
|
|
NM_001943.5(DSG2):c.466G>A (p.Glu156Lys)
|
rs566251077
|
0.00001
|
|
NM_001943.5(DSG2):c.46A>G (p.Ile16Val)
|
rs376660601
|
0.00001
|
|
NM_001943.5(DSG2):c.470C>T (p.Pro157Leu)
|
rs587782938
|
0.00001
|
|
NM_001943.5(DSG2):c.511T>C (p.Leu171=)
|
rs1271440899
|
0.00001
|
|
NM_001943.5(DSG2):c.523C>T (p.His175Tyr)
|
rs375422019
|
0.00001
|
|
NM_001943.5(DSG2):c.536T>C (p.Met179Thr)
|
rs753854046
|
0.00001
|
|
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys)
|
rs763948986
|
0.00001
|
|
NM_001943.5(DSG2):c.564G>A (p.Glu188=)
|
rs1326016998
|
0.00001
|
|
NM_001943.5(DSG2):c.582G>A (p.Ser194=)
|
rs748768578
|
0.00001
|
|
NM_001943.5(DSG2):c.58G>A (p.Val20Ile)
|
rs746192055
|
0.00001
|
|
NM_001943.5(DSG2):c.624T>G (p.Pro208=)
|
rs1275487240
|
0.00001
|
|
NM_001943.5(DSG2):c.648T>C (p.Asp216=)
|
rs1235715453
|
0.00001
|
|
NM_001943.5(DSG2):c.677C>A (p.Thr226Asn)
|
rs751490881
|
0.00001
|
|
NM_001943.5(DSG2):c.677C>T (p.Thr226Ile)
|
rs751490881
|
0.00001
|
|
NM_001943.5(DSG2):c.690G>A (p.Glu230=)
|
rs767433640
|
0.00001
|
|
NM_001943.5(DSG2):c.693A>G (p.Glu231=)
|
rs775582591
|
0.00001
|
|
NM_001943.5(DSG2):c.713C>T (p.Thr238Ile)
|
rs767523704
|
0.00001
|
|
NM_001943.5(DSG2):c.720A>G (p.Glu240=)
|
rs756024562
|
0.00001
|
|
NM_001943.5(DSG2):c.73C>T (p.His25Tyr)
|
rs1335695492
|
0.00001
|
|
NM_001943.5(DSG2):c.770A>G (p.Gln257Arg)
|
rs765118809
|
0.00001
|
|
NM_001943.5(DSG2):c.782G>A (p.Arg261His)
|
rs727502984
|
0.00001
|
|
NM_001943.5(DSG2):c.795C>G (p.Val265=)
|
rs771324254
|
0.00001
|
|
NM_001943.5(DSG2):c.813A>G (p.Val271=)
|
rs769992634
|
0.00001
|
|
NM_001943.5(DSG2):c.82-3T>C
|
rs370099811
|
0.00001
|
|
NM_001943.5(DSG2):c.828+5C>T
|
rs373286117
|
0.00001
|
|
NM_001943.5(DSG2):c.829-11A>G
|
rs2073150702
|
0.00001
|
|
NM_001943.5(DSG2):c.829-9G>C
|
rs764900970
|
0.00001
|
|
NM_001943.5(DSG2):c.872C>T (p.Thr291Met)
|
rs774563205
|
0.00001
|
|
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys)
|
rs770921270
|
0.00001
|
|
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu)
|
rs752432726
|
0.00001
|
|
NM_001943.5(DSG2):c.884T>C (p.Val295Ala)
|
rs762588785
|
0.00001
|
|
NM_001943.5(DSG2):c.889G>A (p.Asp297Asn)
|
rs751012696
|
0.00001
|
|
NM_001943.5(DSG2):c.908C>T (p.Ser303Phe)
|
rs757792714
|
0.00001
|
|
NM_001943.5(DSG2):c.990C>T (p.Asn330=)
|
rs140575919
|
0.00001
|
|
NM_001943.5(DSG2):c.996A>G (p.Gly332=)
|
rs1568106929
|
0.00001
|
|
NM_002474.3(MYH11):c.*4A>G
|
rs376561783
|
0.00001
|
|
NM_002474.3(MYH11):c.-12C>T
|
rs763118586
|
0.00001
|
|
NM_002474.3(MYH11):c.-13C>A
|
rs767404390
|
0.00001
|
|
NM_002474.3(MYH11):c.-15G>T
|
rs1471321087
|
0.00001
|
|
NM_002474.3(MYH11):c.1003A>G (p.Ile335Val)
|
rs1258616305
|
0.00001
|
|
NM_002474.3(MYH11):c.1009G>A (p.Gly337Ser)
|
rs1393758073
|
0.00001
|
|
NM_002474.3(MYH11):c.1033+6C>T
|
rs767584307
|
0.00001
|
|
NM_002474.3(MYH11):c.1055C>T (p.Ser352Leu)
|
rs147496115
|
0.00001
|
|
NM_002474.3(MYH11):c.1065G>C (p.Gln355His)
|
rs2041923210
|
0.00001
|
|
NM_002474.3(MYH11):c.1121A>G (p.Asp374Gly)
|
rs1174407076
|
0.00001
|
|
NM_002474.3(MYH11):c.1124A>G (p.Asn375Ser)
|
rs1344686228
|
0.00001
|
|
NM_002474.3(MYH11):c.1129+4C>T
|
rs748467983
|
0.00001
|
|
NM_002474.3(MYH11):c.1170A>C (p.Thr390=)
|
rs1355157546
|
0.00001
|
|
NM_002474.3(MYH11):c.1181G>A (p.Arg394Lys)
|
rs767021608
|
0.00001
|
|
NM_002474.3(MYH11):c.119C>T (p.Ser40Leu)
|
rs775927183
|
0.00001
|
|
NM_002474.3(MYH11):c.1249-4dup
|
rs748020048
|
0.00001
|
|
NM_002474.3(MYH11):c.1316G>A (p.Arg439His)
|
rs372247345
|
0.00001
|
|
NM_002474.3(MYH11):c.133T>G (p.Phe45Val)
|
rs746419144
|
0.00001
|
|
NM_002474.3(MYH11):c.1355C>T (p.Ala452Val)
|
rs1291260053
|
0.00001
|
|
NM_002474.3(MYH11):c.1356T>A (p.Ala452=)
|
rs778073237
|
0.00001
|
|
NM_002474.3(MYH11):c.1402-12C>G
|
rs769036516
|
0.00001
|
|
NM_002474.3(MYH11):c.1470C>A (p.Thr490=)
|
rs759428938
|
0.00001
|
|
NM_002474.3(MYH11):c.1513G>A (p.Glu505Lys)
|
rs747217502
|
0.00001
|
|
NM_002474.3(MYH11):c.1529A>C (p.Asp510Ala)
|
rs1443735566
|
0.00001
|
|
NM_002474.3(MYH11):c.152A>T (p.Lys51Met)
|
rs748791569
|
0.00001
|
|
NM_002474.3(MYH11):c.1557C>T (p.Ile519=)
|
rs959105164
|
0.00001
|
|
NM_002474.3(MYH11):c.1566C>T (p.Ile522=)
|
rs541905355
|
0.00001
|
|
NM_002474.3(MYH11):c.1574C>T (p.Pro525Leu)
|
rs750288554
|
0.00001
|
|
NM_002474.3(MYH11):c.1575+3G>A
|
rs377632137
|
0.00001
|
|
NM_002474.3(MYH11):c.1576-15A>G
|
rs760708640
|
0.00001
|
|
NM_002474.3(MYH11):c.1576-4A>G
|
rs189193825
|
0.00001
|
|
NM_002474.3(MYH11):c.161A>G (p.Lys54Arg)
|
rs1015353331
|
0.00001
|
|
NM_002474.3(MYH11):c.1635G>A (p.Thr545=)
|
rs773802963
|
0.00001
|
|
NM_002474.3(MYH11):c.1665G>A (p.Thr555=)
|
rs779863003
|
0.00001
|
|
NM_002474.3(MYH11):c.1686G>A (p.Lys562=)
|
rs1033911743
|
0.00001
|
|
NM_002474.3(MYH11):c.1750-7T>C
|
rs1192091167
|
0.00001
|
|
NM_002474.3(MYH11):c.1776G>A (p.Leu592=)
|
rs1239338323
|
0.00001
|
|
NM_002474.3(MYH11):c.1782G>A (p.Lys594=)
|
rs774175693
|
0.00001
|
|
NM_002474.3(MYH11):c.1787T>C (p.Met596Thr)
|
rs1338996385
|
0.00001
|
|
NM_002474.3(MYH11):c.1794G>A (p.Pro598=)
|
rs749272388
|
0.00001
|
|
NM_002474.3(MYH11):c.1807G>A (p.Val603Met)
|
rs747024997
|
0.00001
|
|
NM_002474.3(MYH11):c.1823A>G (p.Asn608Ser)
|
rs750642581
|
0.00001
|
|
NM_002474.3(MYH11):c.1827C>T (p.Ala609=)
|
rs1177383353
|
0.00001
|
|
NM_002474.3(MYH11):c.1830C>T (p.Ser610=)
|
rs765680882
|
0.00001
|
|
NM_002474.3(MYH11):c.1833C>T (p.Ser611=)
|
rs990109247
|
0.00001
|
|
NM_002474.3(MYH11):c.1834G>A (p.Asp612Asn)
|
rs1267918882
|
0.00001
|
|
NM_002474.3(MYH11):c.1847C>G (p.Ala616Gly)
|
rs140688587
|
0.00001
|
|
NM_002474.3(MYH11):c.1851C>T (p.Asp617=)
|
rs1233324109
|
0.00001
|
|
NM_002474.3(MYH11):c.1852C>T (p.Leu618=)
|
rs759239390
|
0.00001
|
|
NM_002474.3(MYH11):c.1865-13C>G
|
rs1205098779
|
0.00001
|
|
NM_002474.3(MYH11):c.1875C>T (p.Ile625=)
|
rs1018954722
|
0.00001
|
|
NM_002474.3(MYH11):c.1914G>A (p.Ser638=)
|
rs749496185
|
0.00001
|
|
NM_002474.3(MYH11):c.1924G>A (p.Ala642Thr)
|
rs371750065
|
0.00001
|
|
NM_002474.3(MYH11):c.1956A>G (p.Thr652=)
|
rs753238525
|
0.00001
|
|
NM_002474.3(MYH11):c.1968G>A (p.Leu656=)
|
rs754494548
|
0.00001
|
|
NM_002474.3(MYH11):c.1981C>G (p.Leu661Val)
|
rs1267658886
|
0.00001
|
|
NM_002474.3(MYH11):c.1990C>G (p.Leu664Val)
|
rs762549707
|
0.00001
|
|
NM_002474.3(MYH11):c.1993A>G (p.Met665Val)
|
rs2041529040
|
0.00001
|
|
NM_002474.3(MYH11):c.2015C>T (p.Thr672Met)
|
rs749498320
|
0.00001
|
|
NM_002474.3(MYH11):c.2025C>T (p.Phe675=)
|
rs140684159
|
0.00001
|
|
NM_002474.3(MYH11):c.2076G>A (p.Ala692=)
|
rs760143947
|
0.00001
|
|
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp)
|
rs886038932
|
0.00001
|
|
NM_002474.3(MYH11):c.2099G>A (p.Arg700Gln)
|
rs376758800
|
0.00001
|
|
NM_002474.3(MYH11):c.209C>T (p.Thr70Met)
|
rs1222746393
|
0.00001
|
|
NM_002474.3(MYH11):c.210G>A (p.Thr70=)
|
rs751505124
|
0.00001
|
|
NM_002474.3(MYH11):c.2173C>T (p.Arg725Cys)
|
rs373251357
|
0.00001
|
|
NM_002474.3(MYH11):c.2179C>T (p.Arg727Cys)
|
rs1401359617
|
0.00001
|
|
NM_002474.3(MYH11):c.2185G>A (p.Glu729Lys)
|
rs1460761362
|
0.00001
|
|
NM_002474.3(MYH11):c.2195C>T (p.Ala732Val)
|
rs764831521
|
0.00001
|
|
NM_002474.3(MYH11):c.2196G>A (p.Ala732=)
|
rs199961254
|
0.00001
|
|
NM_002474.3(MYH11):c.2251-9C>T
|
rs749222918
|
0.00001
|
|
NM_002474.3(MYH11):c.2288T>C (p.Ile763Thr)
|
rs944017240
|
0.00001
|
|
NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn)
|
rs1050298581
|
0.00001
|
|
NM_002474.3(MYH11):c.2302A>G (p.Ile768Val)
|
rs779331046
|
0.00001
|
|
NM_002474.3(MYH11):c.2329C>A (p.His777Asn)
|
rs767136120
|
0.00001
|
|
NM_002474.3(MYH11):c.2345G>A (p.Arg782Gln)
|
rs200835799
|
0.00001
|
|
NM_002474.3(MYH11):c.2364T>C (p.Asp788=)
|
rs747024924
|
0.00001
|
|
NM_002474.3(MYH11):c.2371A>G (p.Met791Val)
|
rs780266654
|
0.00001
|
|
NM_002474.3(MYH11):c.2385G>A (p.Ala795=)
|
rs772248675
|
0.00001
|
|
NM_002474.3(MYH11):c.2393G>A (p.Arg798His)
|
rs757602048
|
0.00001
|
|
NM_002474.3(MYH11):c.2426G>A (p.Arg809Lys)
|
rs534802983
|
0.00001
|
|
NM_002474.3(MYH11):c.2439G>A (p.Leu813=)
|
rs767499853
|
0.00001
|
|
NM_002474.3(MYH11):c.2445C>T (p.Ala815=)
|
rs1057513174
|
0.00001
|
|
NM_002474.3(MYH11):c.2521-13C>T
|
rs1359130399
|
0.00001
|
|
NM_002474.3(MYH11):c.2521-15A>G
|
rs778650159
|
0.00001
|
|
NM_002474.3(MYH11):c.2535G>C (p.Leu845=)
|
rs376763868
|
0.00001
|
|
NM_002474.3(MYH11):c.2545C>A (p.Arg849=)
|
rs869025471
|
0.00001
|
|
NM_002474.3(MYH11):c.2574G>A (p.Glu858=)
|
rs150603682
|
0.00001
|
|
NM_002474.3(MYH11):c.2600G>A (p.Arg867Gln)
|
rs773993037
|
0.00001
|
|
NM_002474.3(MYH11):c.2628G>A (p.Lys876=)
|
rs1419915151
|
0.00001
|
|
NM_002474.3(MYH11):c.2652+6T>C
|
rs765272495
|
0.00001
|
|
NM_002474.3(MYH11):c.2653-7C>T
|
rs372698538
|
0.00001
|
|
NM_002474.3(MYH11):c.2733G>A (p.Val911=)
|
rs200531561
|
0.00001
|
|
NM_002474.3(MYH11):c.2735G>A (p.Arg912Gln)
|
rs768392407
|
0.00001
|
|
NM_002474.3(MYH11):c.273G>A (p.Ala91=)
|
rs549825667
|
0.00001
|
|
NM_002474.3(MYH11):c.2742G>A (p.Ala914=)
|
rs749394349
|
0.00001
|
|
NM_002474.3(MYH11):c.2757G>A (p.Glu919=)
|
rs1383964552
|
0.00001
|
|
NM_002474.3(MYH11):c.2788C>T (p.Arg930Cys)
|
rs755324860
|
0.00001
|
|
NM_002474.3(MYH11):c.2789G>A (p.Arg930His)
|
rs1025259076
|
0.00001
|
|
NM_002474.3(MYH11):c.27C>T (p.Asp9=)
|
rs769179119
|
0.00001
|
|
NM_002474.3(MYH11):c.2812G>A (p.Gly938Ser)
|
rs1227980651
|
0.00001
|
|
NM_002474.3(MYH11):c.2814C>G (p.Gly938=)
|
rs1325652306
|
0.00001
|
|
NM_002474.3(MYH11):c.281C>T (p.Thr94Met)
|
rs794728681
|
0.00001
|
|
NM_002474.3(MYH11):c.2855T>C (p.Met952Thr)
|
rs372275868
|
0.00001
|
|
NM_002474.3(MYH11):c.2860-10C>T
|
rs1180352165
|
0.00001
|
|
NM_002474.3(MYH11):c.2863C>G (p.Leu955Val)
|
rs145121051
|
0.00001
|
|
NM_002474.3(MYH11):c.3002G>A (p.Arg1001Gln)
|
rs376622843
|
0.00001
|
|
NM_002474.3(MYH11):c.3015G>A (p.Glu1005=)
|
rs1261977631
|
0.00001
|
|
NM_002474.3(MYH11):c.3018G>A (p.Glu1006=)
|
rs1469418234
|
0.00001
|
|
NM_002474.3(MYH11):c.3124C>T (p.Arg1042Trp)
|
rs774490005
|
0.00001
|
|
NM_002474.3(MYH11):c.3144G>A (p.Lys1048=)
|
rs763362977
|
0.00001
|
|
NM_002474.3(MYH11):c.3152A>G (p.Gln1051Arg)
|
rs1555557294
|
0.00001
|
|
NM_002474.3(MYH11):c.3276G>A (p.Leu1092=)
|
rs756933550
|
0.00001
|
|
NM_002474.3(MYH11):c.3286C>A (p.Leu1096Met)
|
rs886039079
|
0.00001
|
|
NM_002474.3(MYH11):c.3300C>T (p.Asp1100=)
|
rs761918065
|
0.00001
|
|
NM_002474.3(MYH11):c.3375G>C (p.Glu1125Asp)
|
rs779019646
|
0.00001
|
|
NM_002474.3(MYH11):c.3391C>T (p.Arg1131Trp)
|
rs778315061
|
0.00001
|
|
NM_002474.3(MYH11):c.3397G>A (p.Ala1133Thr)
|
rs148731225
|
0.00001
|
|
NM_002474.3(MYH11):c.3409G>T (p.Ala1137Ser)
|
rs761268562
|
0.00001
|
|
NM_002474.3(MYH11):c.3432C>T (p.Leu1144=)
|
rs145289672
|
0.00001
|
|
NM_002474.3(MYH11):c.3435C>T (p.Gly1145=)
|
rs776410055
|
0.00001
|
|
NM_002474.3(MYH11):c.3469G>A (p.Asp1157Asn)
|
rs746943696
|
0.00001
|
|
NM_002474.3(MYH11):c.347C>T (p.Thr116Met)
|
rs1220795088
|
0.00001
|
|
NM_002474.3(MYH11):c.3558G>A (p.Glu1186=)
|
rs760574476
|
0.00001
|
|
NM_002474.3(MYH11):c.3561G>A (p.Thr1187=)
|
rs139271438
|
0.00001
|
|
NM_002474.3(MYH11):c.357C>T (p.Gly119=)
|
rs751716152
|
0.00001
|
|
NM_002474.3(MYH11):c.3594G>A (p.Arg1198=)
|
rs138908402
|
0.00001
|
|
NM_002474.3(MYH11):c.3618G>A (p.Glu1206=)
|
rs957776829
|
0.00001
|
|
NM_002474.3(MYH11):c.3619G>A (p.Glu1207Lys)
|
rs371831822
|
0.00001
|
|
NM_002474.3(MYH11):c.3652-14G>C
|
rs760789288
|
0.00001
|
|
NM_002474.3(MYH11):c.3652-5G>A
|
rs1208868468
|
0.00001
|
|
NM_002474.3(MYH11):c.366C>T (p.Cys122=)
|
rs372775942
|
0.00001
|
|
NM_002474.3(MYH11):c.3683C>T (p.Thr1228Met)
|
rs755810220
|
0.00001
|
|
NM_002474.3(MYH11):c.3711C>T (p.Ala1237=)
|
rs576890377
|
0.00001
|
|
NM_002474.3(MYH11):c.3712G>A (p.Gly1238Arg)
|
rs558332944
|
0.00001
|
|
NM_002474.3(MYH11):c.3719T>G (p.Leu1240Arg)
|
rs111318460
|
0.00001
|
|
NM_002474.3(MYH11):c.3721C>T (p.Arg1241Trp)
|
rs771515309
|
0.00001
|
|
NM_002474.3(MYH11):c.3756T>G (p.His1252Gln)
|
rs1390595486
|
0.00001
|
|
NM_002474.3(MYH11):c.3765G>T (p.Lys1255Asn)
|
rs1596738517
|
0.00001
|
|
NM_002474.3(MYH11):c.3777G>A (p.Ala1259=)
|
rs370031545
|
0.00001
|
|
NM_002474.3(MYH11):c.3807C>T (p.Ser1269=)
|
rs773533472
|
0.00001
|
|
NM_002474.3(MYH11):c.3813G>A (p.Gly1271=)
|
rs1325803447
|
0.00001
|
|
NM_002474.3(MYH11):c.3831G>A (p.Glu1277=)
|
rs752821481
|
0.00001
|
|
NM_002474.3(MYH11):c.3840C>T (p.Asp1280=)
|
rs1279730451
|
0.00001
|
|
NM_002474.3(MYH11):c.3844G>A (p.Val1282Ile)
|
rs763285173
|
0.00001
|
|
NM_002474.3(MYH11):c.3865G>C (p.Val1289Leu)
|
rs1264354643
|
0.00001
|
|
NM_002474.3(MYH11):c.3873C>T (p.Ser1291=)
|
rs140339691
|
0.00001
|
|
NM_002474.3(MYH11):c.3879A>G (p.Thr1293=)
|
rs761364286
|
0.00001
|
|
NM_002474.3(MYH11):c.3892G>A (p.Glu1298Lys)
|
rs780157741
|
0.00001
|
|
NM_002474.3(MYH11):c.3906G>A (p.Lys1302=)
|
rs1310898450
|
0.00001
|
|
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu)
|
rs200737737
|
0.00001
|
|
NM_002474.3(MYH11):c.3918G>T (p.Leu1306=)
|
rs754244876
|
0.00001
|
|
NM_002474.3(MYH11):c.3933G>A (p.Ala1311=)
|
rs78857360
|
0.00001
|
|
NM_002474.3(MYH11):c.3934T>C (p.Ser1312Pro)
|
rs766001513
|
0.00001
|
|
NM_002474.3(MYH11):c.3935C>T (p.Ser1312Phe)
|
rs1596732730
|
0.00001
|
|
NM_002474.3(MYH11):c.3986G>A (p.Arg1329Gln)
|
rs761662427
|
0.00001
|
|
NM_002474.3(MYH11):c.4024G>A (p.Glu1342Lys)
|
rs755408359
|
0.00001
|
|
NM_002474.3(MYH11):c.4031A>T (p.Glu1344Val)
|
rs886051746
|
0.00001
|
|
NM_002474.3(MYH11):c.4037A>G (p.Asn1346Ser)
|
rs371790612
|
0.00001
|
|
NM_002474.3(MYH11):c.4042C>T (p.Leu1348=)
|
rs758078993
|
0.00001
|
|
NM_002474.3(MYH11):c.4060G>A (p.Glu1354Lys)
|
rs764136209
|
0.00001
|
|
NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys)
|
rs141184241
|
0.00001
|
|
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=)
|
rs370519992
|
0.00001
|
|
NM_002474.3(MYH11):c.408G>A (p.Glu136=)
|
rs772043288
|
0.00001
|
|
NM_002474.3(MYH11):c.4090C>T (p.Arg1364Cys)
|
rs769227102
|
0.00001
|
|
NM_002474.3(MYH11):c.4122C>T (p.Ser1374=)
|
rs377329568
|
0.00001
|
|
NM_002474.3(MYH11):c.4135A>C (p.Lys1379Gln)
|
rs753312858
|
0.00001
|
|
NM_002474.3(MYH11):c.4176G>A (p.Glu1392=)
|
rs1376881641
|
0.00001
|
|
NM_002474.3(MYH11):c.418G>A (p.Asp140Asn)
|
rs1085307699
|
0.00001
|
|
NM_002474.3(MYH11):c.4200G>T (p.Glu1400Asp)
|
rs754997732
|
0.00001
|
|
NM_002474.3(MYH11):c.4237G>T (p.Ala1413Ser)
|
rs1025147024
|
0.00001
|
|
NM_002474.3(MYH11):c.4255G>C (p.Glu1419Gln)
|
rs567729923
|
0.00001
|
|
NM_002474.3(MYH11):c.4285C>G (p.Leu1429Val)
|
rs753916027
|
0.00001
|
|
NM_002474.3(MYH11):c.4290C>T (p.Asp1430=)
|
rs1171298608
|
0.00001
|
|
NM_002474.3(MYH11):c.4296G>A (p.Leu1432=)
|
rs373591888
|
0.00001
|
|
NM_002474.3(MYH11):c.4299T>C (p.Val1433=)
|
rs2040630480
|
0.00001
|
|
NM_002474.3(MYH11):c.4310A>G (p.Asp1437Gly)
|
rs919816656
|
0.00001
|
|
NM_002474.3(MYH11):c.4318C>T (p.Arg1440Trp)
|
rs766841864
|
0.00001
|
|
NM_002474.3(MYH11):c.4326C>T (p.Leu1442=)
|
rs369335485
|
0.00001
|
|
NM_002474.3(MYH11):c.4365+6G>A
|
rs530881888
|
0.00001
|
|
NM_002474.3(MYH11):c.4366-4G>A
|
rs760252350
|
0.00001
|
|
NM_002474.3(MYH11):c.4374C>T (p.Ala1458=)
|
rs767066866
|
0.00001
|
|
NM_002474.3(MYH11):c.4418G>T (p.Arg1473Ile)
|
rs758663266
|
0.00001
|
|
NM_002474.3(MYH11):c.4427C>G (p.Ala1476Gly)
|
rs367746199
|
0.00001
|
|
NM_002474.3(MYH11):c.4480G>A (p.Glu1494Lys)
|
rs375969176
|
0.00001
|
|
NM_002474.3(MYH11):c.4510C>T (p.Arg1504Trp)
|
rs144823441
|
0.00001
|
|
NM_002474.3(MYH11):c.4511G>A (p.Arg1504Gln)
|
rs769614526
|
0.00001
|
|
NM_002474.3(MYH11):c.4515C>G (p.Thr1505=)
|
rs140395834
|
0.00001
|
|
NM_002474.3(MYH11):c.4518C>T (p.Asn1506=)
|
rs775411322
|
0.00001
|
|
NM_002474.3(MYH11):c.4523T>C (p.Met1508Thr)
|
rs1298388002
|
0.00001
|
|
NM_002474.3(MYH11):c.452C>T (p.Pro151Leu)
|
rs750723134
|
0.00001
|
|
NM_002474.3(MYH11):c.4531G>A (p.Ala1511Thr)
|
rs2040479391
|
0.00001
|
|
NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn)
|
rs200909802
|
0.00001
|
|
NM_002474.3(MYH11):c.4590G>A (p.Leu1530=)
|
rs2040445031
|
0.00001
|
|
NM_002474.3(MYH11):c.459C>T (p.His153=)
|
rs1057521511
|
0.00001
|
|
NM_002474.3(MYH11):c.4602G>A (p.Lys1534=)
|
rs777186791
|
0.00001
|
|
NM_002474.3(MYH11):c.4648G>A (p.Glu1550Lys)
|
rs751716762
|
0.00001
|
|
NM_002474.3(MYH11):c.465C>T (p.Tyr155=)
|
rs145810355
|
0.00001
|
|
NM_002474.3(MYH11):c.4660G>A (p.Glu1554Lys)
|
rs372598970
|
0.00001
|
|
NM_002474.3(MYH11):c.4662G>A (p.Glu1554=)
|
rs747434041
|
0.00001
|
|
NM_002474.3(MYH11):c.4668A>C (p.Gln1556His)
|
rs148275462
|
0.00001
|
|
NM_002474.3(MYH11):c.4674G>A (p.Thr1558=)
|
rs778499852
|
0.00001
|
|
NM_002474.3(MYH11):c.4685A>G (p.Lys1562Arg)
|
rs1019265305
|
0.00001
|
|
NM_002474.3(MYH11):c.4728C>G (p.Phe1576Leu)
|
rs765435868
|
0.00001
|
|
NM_002474.3(MYH11):c.4729G>A (p.Glu1577Lys)
|
rs761965886
|
0.00001
|
|
NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu)
|
rs794728680
|
0.00001
|
|
NM_002474.3(MYH11):c.4758G>C (p.Gln1586His)
|
rs1354578485
|
0.00001
|
|
NM_002474.3(MYH11):c.4761T>C (p.Asn1587=)
|
rs376132003
|
0.00001
|
|
NM_002474.3(MYH11):c.4792-7C>T
|
rs375652279
|
0.00001
|
|
NM_002474.3(MYH11):c.4792-9C>T
|
rs201567063
|
0.00001
|
|
NM_002474.3(MYH11):c.4797C>T (p.His1599=)
|
rs764996278
|
0.00001
|
|
NM_002474.3(MYH11):c.479C>T (p.Thr160Met)
|
rs794728671
|
0.00001
|
|
NM_002474.3(MYH11):c.4808C>T (p.Thr1603Met)
|
rs376105806
|
0.00001
|
|
NM_002474.3(MYH11):c.4815G>A (p.Leu1605=)
|
rs1401043343
|
0.00001
|
|
NM_002474.3(MYH11):c.4826G>A (p.Arg1609Gln)
|
rs190316422
|
0.00001
|
|
NM_002474.3(MYH11):c.483C>T (p.Ala161=)
|
rs1410270945
|
0.00001
|
|
NM_002474.3(MYH11):c.4850C>T (p.Ala1617Val)
|
rs767053316
|
0.00001
|
|
NM_002474.3(MYH11):c.4872G>A (p.Gly1624=)
|
rs764800035
|
0.00001
|
|
NM_002474.3(MYH11):c.4884C>T (p.Asp1628=)
|
rs780786328
|
0.00001
|
|
NM_002474.3(MYH11):c.488G>A (p.Arg163Gln)
|
rs1060500729
|
0.00001
|
|
NM_002474.3(MYH11):c.4891C>T (p.Leu1631Phe)
|
rs1364670858
|
0.00001
|
|
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=)
|
rs760584464
|
0.00001
|
|
NM_002474.3(MYH11):c.4904C>G (p.Ser1635Cys)
|
rs772007259
|
0.00001
|
|
NM_002474.3(MYH11):c.4920G>A (p.Arg1640=)
|
rs199638486
|
0.00001
|
|
NM_002474.3(MYH11):c.4926A>G (p.Glu1642=)
|
rs1264579700
|
0.00001
|
|
NM_002474.3(MYH11):c.4943G>A (p.Arg1648His)
|
rs750912363
|
0.00001
|
|
NM_002474.3(MYH11):c.4953G>C (p.Gln1651His)
|
rs756832190
|
0.00001
|
|
NM_002474.3(MYH11):c.4990G>A (p.Ala1664Thr)
|
rs1475779964
|
0.00001
|
|
NM_002474.3(MYH11):c.5055G>C (p.Leu1685Phe)
|
rs754570649
|
0.00001
|
|
NM_002474.3(MYH11):c.5088C>T (p.Leu1696=)
|
rs776142323
|
0.00001
|
|
NM_002474.3(MYH11):c.5089G>A (p.Ala1697Thr)
|
rs538145374
|
0.00001
|
|
NM_002474.3(MYH11):c.5091C>T (p.Ala1697=)
|
rs996178983
|
0.00001
|
|
NM_002474.3(MYH11):c.5095G>A (p.Ala1699Thr)
|
rs200410021
|
0.00001
|
|
NM_002474.3(MYH11):c.5122C>G (p.Leu1708Val)
|
rs1353911032
|
0.00001
|
|
NM_002474.3(MYH11):c.5124C>T (p.Leu1708=)
|
rs777163903
|
0.00001
|
|
NM_002474.3(MYH11):c.5140G>A (p.Ala1714Thr)
|
rs1344059916
|
0.00001
|
|
NM_002474.3(MYH11):c.5172-11C>T
|
rs779166026
|
0.00001
|
|
NM_002474.3(MYH11):c.5172-5C>T
|
rs574893374
|
0.00001
|
|
NM_002474.3(MYH11):c.5179C>T (p.Leu1727Phe)
|
rs2040286402
|
0.00001
|
|
NM_002474.3(MYH11):c.5196C>T (p.Arg1732=)
|
rs970185342
|
0.00001
|
|
NM_002474.3(MYH11):c.5197C>T (p.Arg1733Cys)
|
rs1335030890
|
0.00001
|
|
NM_002474.3(MYH11):c.5210G>A (p.Arg1737Gln)
|
rs148433586
|
0.00001
|
|
NM_002474.3(MYH11):c.5213T>C (p.Ile1738Thr)
|
rs794729642
|
0.00001
|
|
NM_002474.3(MYH11):c.5229G>A (p.Glu1743=)
|
rs774805996
|
0.00001
|
|
NM_002474.3(MYH11):c.5255T>C (p.Met1752Thr)
|
rs999924172
|
0.00001
|
|
NM_002474.3(MYH11):c.5288C>T (p.Thr1763Ile)
|
rs761727438
|
0.00001
|
|
NM_002474.3(MYH11):c.5299G>A (p.Glu1767Lys)
|
rs377663370
|
0.00001
|
|
NM_002474.3(MYH11):c.5302C>G (p.Gln1768Glu)
|
rs901502893
|
0.00001
|
|
NM_002474.3(MYH11):c.531-11G>A
|
rs779757963
|
0.00001
|
|
NM_002474.3(MYH11):c.5338G>T (p.Ala1780Ser)
|
rs1041344233
|
0.00001
|
|
NM_002474.3(MYH11):c.5340C>T (p.Ala1780=)
|
rs148113907
|
0.00001
|
|
NM_002474.3(MYH11):c.534C>T (p.Gly178=)
|
rs764984716
|
0.00001
|
|
NM_002474.3(MYH11):c.5356G>A (p.Ala1786Thr)
|
rs779452783
|
0.00001
|
|
NM_002474.3(MYH11):c.5360G>A (p.Arg1787Gln)
|
rs759000207
|
0.00001
|
|
NM_002474.3(MYH11):c.5374C>T (p.Arg1792Trp)
|
rs1364355866
|
0.00001
|
|
NM_002474.3(MYH11):c.5404C>T (p.His1802Tyr)
|
rs1485890422
|
0.00001
|
|
NM_002474.3(MYH11):c.540T>C (p.Ser180=)
|
rs182700462
|
0.00001
|
|
NM_002474.3(MYH11):c.5416G>A (p.Gly1806Arg)
|
rs1384372336
|
0.00001
|
|
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile)
|
rs780870767
|
0.00001
|
|
NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe)
|
rs759033733
|
0.00001
|
|
NM_002474.3(MYH11):c.5448C>T (p.Ile1816=)
|
rs201308235
|
0.00001
|
|
NM_002474.3(MYH11):c.5453C>T (p.Ala1818Val)
|
rs771343446
|
0.00001
|
|
NM_002474.3(MYH11):c.5460G>A (p.Glu1820=)
|
rs1354299369
|
0.00001
|
|
NM_002474.3(MYH11):c.5479G>A (p.Glu1827Lys)
|
rs1895647620
|
0.00001
|
|
NM_002474.3(MYH11):c.5483A>T (p.Glu1828Val)
|
rs1365841164
|
0.00001
|
|
NM_002474.3(MYH11):c.5484G>A (p.Glu1828=)
|
rs1372132646
|
0.00001
|
|
NM_002474.3(MYH11):c.5485C>G (p.Gln1829Glu)
|
rs1005977032
|
0.00001
|
|
NM_002474.3(MYH11):c.5490C>T (p.Val1830=)
|
rs770582589
|
0.00001
|
|
NM_002474.3(MYH11):c.5500G>A (p.Ala1834Thr)
|
rs759734157
|
0.00001
|
|
NM_002474.3(MYH11):c.5553G>A (p.Leu1851=)
|
rs537426836
|
0.00001
|
|
NM_002474.3(MYH11):c.5572G>T (p.Val1858Leu)
|
rs1436778681
|
0.00001
|
|
NM_002474.3(MYH11):c.5574G>A (p.Val1858=)
|
rs758553530
|
0.00001
|
|
NM_002474.3(MYH11):c.5580C>T (p.Asp1860=)
|
rs750821241
|
0.00001
|
|
NM_002474.3(MYH11):c.5586C>G (p.Arg1862=)
|
rs542765381
|
0.00001
|
|
NM_002474.3(MYH11):c.5614-5G>A
|
rs201028938
|
0.00001
|
|
NM_002474.3(MYH11):c.5615C>T (p.Ala1872Val)
|
rs943486107
|
0.00001
|
|
NM_002474.3(MYH11):c.5633G>C (p.Arg1878Thr)
|
rs2040045274
|
0.00001
|
|
NM_002474.3(MYH11):c.5684G>A (p.Arg1895His)
|
rs375148396
|
0.00001
|
|
NM_002474.3(MYH11):c.5692G>A (p.Ala1898Thr)
|
rs1363749589
|
0.00001
|
|
NM_002474.3(MYH11):c.573C>T (p.Val191=)
|
rs763981310
|
0.00001
|
|
NM_002474.3(MYH11):c.5756G>A (p.Arg1919His)
|
rs1284202501
|
0.00001
|
|
NM_002474.3(MYH11):c.5760G>A (p.Glu1920=)
|
rs199997929
|
0.00001
|
|
NM_002474.3(MYH11):c.5766C>T (p.Asn1922=)
|
rs764020019
|
0.00001
|
|
NM_002474.3(MYH11):c.5786+6G>C
|
rs766417351
|
0.00001
|
|
NM_002474.3(MYH11):c.5787-4727C>T
|
rs745371874
|
0.00001
|
|
NM_002474.3(MYH11):c.5787-4733C>T
|
rs772569815
|
0.00001
|
|
NM_002474.3(MYH11):c.5829A>G (p.Gly1943=)
|
rs199752132
|
0.00001
|
|
NM_002474.3(MYH11):c.5852C>T (p.Ala1951Val)
|
rs769211342
|
0.00001
|
|
NM_002474.3(MYH11):c.5863G>A (p.Glu1955Lys)
|
rs2039321637
|
0.00001
|
|
NM_002474.3(MYH11):c.5874G>A (p.Thr1958=)
|
rs761000142
|
0.00001
|
|
NM_002474.3(MYH11):c.5912G>C (p.Ser1971Thr)
|
rs914328780
|
0.00001
|
|
NM_002474.3(MYH11):c.62T>C (p.Ile21Thr)
|
rs777372840
|
0.00001
|
|
NM_002474.3(MYH11):c.669G>A (p.Pro223=)
|
rs562249787
|
0.00001
|
|
NM_002474.3(MYH11):c.685G>A (p.Gly229Ser)
|
rs1242871546
|
0.00001
|
|
NM_002474.3(MYH11):c.709G>A (p.Asp237Asn)
|
rs1390176909
|
0.00001
|
|
NM_002474.3(MYH11):c.720A>T (p.Ser240=)
|
rs143160789
|
0.00001
|
|
NM_002474.3(MYH11):c.727-8G>A
|
rs1211905522
|
0.00001
|
|
NM_002474.3(MYH11):c.757A>G (p.Thr253Ala)
|
rs1596822713
|
0.00001
|
|
NM_002474.3(MYH11):c.768C>T (p.Ile256=)
|
rs756118392
|
0.00001
|
|
NM_002474.3(MYH11):c.795G>T (p.Leu265=)
|
rs922121420
|
0.00001
|
|
NM_002474.3(MYH11):c.834G>A (p.Glu278=)
|
rs758728429
|
0.00001
|
|
NM_002474.3(MYH11):c.882G>A (p.Lys294=)
|
rs536912174
|
0.00001
|
|
NM_002474.3(MYH11):c.993G>A (p.Glu331=)
|
rs781004745
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1014G>A (p.Thr338=)
|
rs764720370
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1016G>A (p.Arg339Gln)
|
rs727503473
|
0.00001
|
|
NM_003242.6(TGFBR2):c.102C>T (p.Asn34=)
|
rs753739611
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln)
|
rs727504292
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1116G>A (p.Lys372=)
|
rs753782498
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1125C>T (p.Ile375=)
|
rs751663055
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val)
|
rs137908708
|
0.00001
|
|
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser)
|
rs780280433
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1173A>G (p.Leu391=)
|
rs1013308477
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys)
|
rs886038960
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His)
|
rs143095746
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1210C>T (p.Leu404=)
|
rs1253996257
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1222C>A (p.Leu408Met)
|
rs770352403
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1254+6T>A
|
rs1026852885
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1255-4A>G
|
rs773834537
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1314T>C (p.Asn438=)
|
rs772490613
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1397A>T (p.Glu466Val)
|
rs1321865816
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1431G>C (p.Lys477Asn)
|
rs1182402824
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1435C>T (p.Arg479Trp)
|
rs1444024775
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met)
|
rs754176932
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1482T>C (p.Asp494=)
|
rs757583727
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1484G>A (p.Arg495Gln)
|
rs1305853447
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1517A>G (p.Asn506Ser)
|
rs780087626
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1519C>T (p.His507Tyr)
|
rs747068726
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1525-10C>G
|
rs747069454
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1525-6C>G
|
rs748388518
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1539G>A (p.Val513=)
|
rs1369389276
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1626G>A (p.Glu542=)
|
rs375226321
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu)
|
rs755070814
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1644G>A (p.Ser548=)
|
rs781309781
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp)
|
rs748418894
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1658C>T (p.Ser553Leu)
|
rs569635708
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1659G>A (p.Ser553=)
|
rs771926828
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1668G>A (p.Lys556=)
|
rs779923854
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1701A>G (p.Lys567=)
|
rs763371077
|
0.00001
|
|
NM_003242.6(TGFBR2):c.352T>C (p.Ser118Pro)
|
rs540920930
|
0.00001
|
|
NM_003242.6(TGFBR2):c.403A>G (p.Met135Val)
|
rs377455599
|
0.00001
|
|
NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe)
|
rs1182907194
|
0.00001
|
|
NM_003242.6(TGFBR2):c.448T>C (p.Ser150Pro)
|
rs1346274891
|
0.00001
|
|
NM_003242.6(TGFBR2):c.455-6C>T
|
rs1699338168
|
0.00001
|
|
NM_003242.6(TGFBR2):c.469A>T (p.Asn157Tyr)
|
rs1203996192
|
0.00001
|
|
NM_003242.6(TGFBR2):c.486A>G (p.Leu162=)
|
rs761927882
|
0.00001
|
|
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg)
|
rs759362407
|
0.00001
|
|
NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile)
|
rs368346624
|
0.00001
|
|
NM_003242.6(TGFBR2):c.578G>A (p.Arg193Gln)
|
rs748437880
|
0.00001
|
|
NM_003242.6(TGFBR2):c.594T>C (p.Ser198=)
|
rs886038945
|
0.00001
|
|
NM_003242.6(TGFBR2):c.596C>T (p.Ser199Leu)
|
rs1431838247
|
0.00001
|
|
NM_003242.6(TGFBR2):c.610G>A (p.Gly204Ser)
|
rs773431795
|
0.00001
|
|
NM_003242.6(TGFBR2):c.619C>T (p.Arg207Trp)
|
rs775640617
|
0.00001
|
|
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=)
|
rs886058304
|
0.00001
|
|
NM_003242.6(TGFBR2):c.640G>A (p.Glu214Lys)
|
rs764821003
|
0.00001
|
|
NM_003242.6(TGFBR2):c.644A>G (p.His215Arg)
|
rs1252128858
|
0.00001
|
|
NM_003242.6(TGFBR2):c.658C>T (p.Leu220=)
|
rs1424646103
|
0.00001
|
|
NM_003242.6(TGFBR2):c.666T>C (p.Asp222=)
|
rs755404252
|
0.00001
|
|
NM_003242.6(TGFBR2):c.670C>T (p.Arg224Cys)
|
rs748195637
|
0.00001
|
|
NM_003242.6(TGFBR2):c.6T>C (p.Gly2=)
|
rs758864131
|
0.00001
|
|
NM_003242.6(TGFBR2):c.740A>T (p.Asp247Val)
|
rs761231369
|
0.00001
|
|
NM_003242.6(TGFBR2):c.75A>G (p.Pro25=)
|
rs572435149
|
0.00001
|
|
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His)
|
rs751948498
|
0.00001
|
|
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser)
|
rs764160271
|
0.00001
|
|
NM_003242.6(TGFBR2):c.776A>G (p.Tyr259Cys)
|
rs767919854
|
0.00001
|
|
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu)
|
rs139078984
|
0.00001
|
|
NM_003242.6(TGFBR2):c.842A>G (p.Tyr281Cys)
|
rs1210616464
|
0.00001
|
|
NM_003242.6(TGFBR2):c.851A>G (p.Tyr284Cys)
|
rs374708133
|
0.00001
|
|
NM_003242.6(TGFBR2):c.933G>A (p.Glu311=)
|
rs754003334
|
0.00001
|
|
NM_003242.6(TGFBR2):c.94+6T>G
|
rs1269699495
|
0.00001
|
|
NM_003242.6(TGFBR2):c.95-2A>G
|
rs779131465
|
0.00001
|
|
NM_003242.6(TGFBR2):c.953G>C (p.Gly318Ala)
|
rs754785934
|
0.00001
|
|
NM_003242.6(TGFBR2):c.962A>G (p.Tyr321Cys)
|
rs1553630191
|
0.00001
|
|
NM_004415.4(DSP):c.1012C>T (p.Leu338Phe)
|
rs774852168
|
0.00001
|
|
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser)
|
rs746245682
|
0.00001
|
|
NM_004415.4(DSP):c.1045-3C>T
|
rs765077011
|
0.00001
|
|
NM_004415.4(DSP):c.1065G>A (p.Gln355=)
|
rs750289780
|
0.00001
|
|
NM_004415.4(DSP):c.106G>A (p.Gly36Ser)
|
rs1395509692
|
0.00001
|
|
NM_004415.4(DSP):c.108C>T (p.Gly36=)
|
rs755510597
|
0.00001
|
|
NM_004415.4(DSP):c.1102A>T (p.Ile368Phe)
|
rs794728112
|
0.00001
|
|
NM_004415.4(DSP):c.111C>T (p.Thr37=)
|
rs727502995
|
0.00001
|
|
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser)
|
rs1064795084
|
0.00001
|
|
NM_004415.4(DSP):c.117G>T (p.Arg39Ser)
|
rs748578019
|
0.00001
|
|
NM_004415.4(DSP):c.1197C>G (p.Ile399Met)
|
rs375828592
|
0.00001
|
|
NM_004415.4(DSP):c.120G>A (p.Met40Ile)
|
rs1377575571
|
0.00001
|
|
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)
|
rs763523373
|
0.00001
|
|
NM_004415.4(DSP):c.1266+5C>T
|
rs1052624321
|
0.00001
|
|
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)
|
rs397516916
|
0.00001
|
|
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn)
|
rs1037212969
|
0.00001
|
|
NM_004415.4(DSP):c.136G>A (p.Gly46Ser)
|
rs371517189
|
0.00001
|
|
NM_004415.4(DSP):c.1452G>A (p.Leu484=)
|
rs1413578599
|
0.00001
|
|
NM_004415.4(DSP):c.1465G>A (p.Glu489Lys)
|
rs904467199
|
0.00001
|
|
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)
|
rs781084693
|
0.00001
|
|
NM_004415.4(DSP):c.1472G>A (p.Ser491Asn)
|
rs930342643
|
0.00001
|
|
NM_004415.4(DSP):c.1482C>T (p.Tyr494=)
|
rs772925425
|
0.00001
|
|
NM_004415.4(DSP):c.1502T>C (p.Val501Ala)
|
rs544017143
|
0.00001
|
|
NM_004415.4(DSP):c.1545G>A (p.Pro515=)
|
rs747953037
|
0.00001
|
|
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala)
|
rs748790273
|
0.00001
|
|
NM_004415.4(DSP):c.1575-7C>T
|
rs1203683996
|
0.00001
|
|
NM_004415.4(DSP):c.1590C>T (p.Tyr530=)
|
rs769196176
|
0.00001
|
|
NM_004415.4(DSP):c.163G>T (p.Gly55Cys)
|
rs1214660308
|
0.00001
|
|
NM_004415.4(DSP):c.165C>T (p.Gly55=)
|
rs1041730733
|
0.00001
|
|
NM_004415.4(DSP):c.1671A>G (p.Ile557Met)
|
rs766505506
|
0.00001
|
|
NM_004415.4(DSP):c.1685C>T (p.Ala562Val)
|
rs767605301
|
0.00001
|
|
NM_004415.4(DSP):c.1693A>G (p.Ile565Val)
|
rs1287232143
|
0.00001
|
|
NM_004415.4(DSP):c.171-4T>C
|
rs1554105598
|
0.00001
|
|
NM_004415.4(DSP):c.1714C>T (p.Arg572Trp)
|
rs796851273
|
0.00001
|
|
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln)
|
rs370531666
|
0.00001
|
|
NM_004415.4(DSP):c.1725T>C (p.Asp575=)
|
rs756392585
|
0.00001
|
|
NM_004415.4(DSP):c.1730T>C (p.Met577Thr)
|
rs141956992
|
0.00001
|
|
NM_004415.4(DSP):c.1731G>A (p.Met577Ile)
|
rs794728101
|
0.00001
|
|
NM_004415.4(DSP):c.1737G>A (p.Thr579=)
|
rs150734502
|
0.00001
|
|
NM_004415.4(DSP):c.17G>A (p.Gly6Asp)
|
rs1339636876
|
0.00001
|
|
NM_004415.4(DSP):c.1812C>T (p.Asp604=)
|
rs1428325875
|
0.00001
|
|
NM_004415.4(DSP):c.181A>G (p.Thr61Ala)
|
rs1380249575
|
0.00001
|
|
NM_004415.4(DSP):c.1821A>G (p.Lys607=)
|
rs768675424
|
0.00001
|
|
NM_004415.4(DSP):c.1824A>G (p.Ile608Met)
|
rs776461292
|
0.00001
|
|
NM_004415.4(DSP):c.182C>T (p.Thr61Met)
|
rs200250096
|
0.00001
|
|
NM_004415.4(DSP):c.1860G>A (p.Gln620=)
|
rs762658467
|
0.00001
|
|
NM_004415.4(DSP):c.1864C>T (p.Leu622=)
|
rs200790278
|
0.00001
|
|
NM_004415.4(DSP):c.1960G>A (p.Val654Ile)
|
rs375629257
|
0.00001
|
|
NM_004415.4(DSP):c.1973A>G (p.Asn658Ser)
|
rs749183448
|
0.00001
|
|
NM_004415.4(DSP):c.2026C>T (p.Arg676Cys)
|
rs756249036
|
0.00001
|
|
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)
|
rs749238502
|
0.00001
|
|
NM_004415.4(DSP):c.2054G>C (p.Arg685Thr)
|
rs1212756552
|
0.00001
|
|
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe)
|
rs1363445022
|
0.00001
|
|
NM_004415.4(DSP):c.2073C>G (p.Leu691=)
|
rs768290750
|
0.00001
|
|
NM_004415.4(DSP):c.2077C>G (p.Leu693Val)
|
rs1339486272
|
0.00001
|
|
NM_004415.4(DSP):c.2081C>T (p.Ala694Val)
|
rs543446763
|
0.00001
|
|
NM_004415.4(DSP):c.2131-5G>C
|
rs767939332
|
0.00001
|
|
NM_004415.4(DSP):c.2131-7T>C
|
rs759911362
|
0.00001
|
|
NM_004415.4(DSP):c.2158G>T (p.Ala720Ser)
|
rs1180846023
|
0.00001
|
|
NM_004415.4(DSP):c.2186T>C (p.Met729Thr)
|
rs758200210
|
0.00001
|
|
NM_004415.4(DSP):c.2192C>A (p.Ala731Asp)
|
rs1280322841
|
0.00001
|
|
NM_004415.4(DSP):c.2194A>G (p.Asn732Asp)
|
rs746785505
|
0.00001
|
|
NM_004415.4(DSP):c.2260G>A (p.Glu754Lys)
|
rs730880080
|
0.00001
|
|
NM_004415.4(DSP):c.2265T>C (p.Asn755=)
|
rs770798708
|
0.00001
|
|
NM_004415.4(DSP):c.2270A>G (p.Asn757Ser)
|
rs372354883
|
0.00001
|
|
NM_004415.4(DSP):c.2287T>C (p.Tyr763His)
|
rs1064794463
|
0.00001
|
|
NM_004415.4(DSP):c.2316A>T (p.Ala772=)
|
rs754896726
|
0.00001
|
|
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)
|
rs755067397
|
0.00001
|
|
NM_004415.4(DSP):c.2423G>A (p.Arg808His)
|
rs372906646
|
0.00001
|
|
NM_004415.4(DSP):c.2436+2T>C
|
rs774514264
|
0.00001
|
|
NM_004415.4(DSP):c.249G>A (p.Met83Ile)
|
rs1426930663
|
0.00001
|
|
NM_004415.4(DSP):c.2502A>G (p.Lys834=)
|
rs764842338
|
0.00001
|
|
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup)
|
rs730880373
|
0.00001
|
|
NM_004415.4(DSP):c.2609T>C (p.Ile870Thr)
|
rs534413559
|
0.00001
|
|
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu)
|
rs794728118
|
0.00001
|
|
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys)
|
rs730880081
|
0.00001
|
|
NM_004415.4(DSP):c.2666G>A (p.Arg889Lys)
|
rs762341335
|
0.00001
|
|
NM_004415.4(DSP):c.2698A>G (p.Lys900Glu)
|
rs371493210
|
0.00001
|
|
NM_004415.4(DSP):c.26C>A (p.Pro9Gln)
|
rs1303669220
|
0.00001
|
|
NM_004415.4(DSP):c.273+3A>G
|
rs794728107
|
0.00001
|
|
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln)
|
rs759869347
|
0.00001
|
|
NM_004415.4(DSP):c.2828A>C (p.Lys943Thr)
|
rs1279814161
|
0.00001
|
|
NM_004415.4(DSP):c.2841A>G (p.Val947=)
|
rs1489060030
|
0.00001
|
|
NM_004415.4(DSP):c.2850T>G (p.Ile950Met)
|
rs727502999
|
0.00001
|
|
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)
|
rs745641212
|
0.00001
|
|
NM_004415.4(DSP):c.2878-15_2878-14del
|
rs763029451
|
0.00001
|
|
NM_004415.4(DSP):c.2884G>A (p.Glu962Lys)
|
rs1289962465
|
0.00001
|
|
NM_004415.4(DSP):c.2906C>T (p.Thr969Ile)
|
rs1265482489
|
0.00001
|
|
NM_004415.4(DSP):c.2924T>C (p.Leu975Pro)
|
rs1473895931
|
0.00001
|
|
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys)
|
rs1060500615
|
0.00001
|
|
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe)
|
rs746346559
|
0.00001
|
|
NM_004415.4(DSP):c.2985G>A (p.Glu995=)
|
rs768858918
|
0.00001
|
|
NM_004415.4(DSP):c.2991A>C (p.Ala997=)
|
rs780686578
|
0.00001
|
|
NM_004415.4(DSP):c.2993A>T (p.Asp998Val)
|
rs752344739
|
0.00001
|
|
NM_004415.4(DSP):c.2T>G (p.Met1Arg)
|
rs748738880
|
0.00001
|
|
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser)
|
rs1218975129
|
0.00001
|
|
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp)
|
rs772551736
|
0.00001
|
|
NM_004415.4(DSP):c.3039T>C (p.Tyr1013=)
|
rs1383881452
|
0.00001
|
|
NM_004415.4(DSP):c.3059T>C (p.Met1020Thr)
|
rs773331618
|
0.00001
|
|
NM_004415.4(DSP):c.3085-3C>T
|
rs774460752
|
0.00001
|
|
NM_004415.4(DSP):c.308G>A (p.Arg103Gln)
|
rs775015862
|
0.00001
|
|
NM_004415.4(DSP):c.3136G>A (p.Asp1046Asn)
|
rs1759341863
|
0.00001
|
|
NM_004415.4(DSP):c.3141C>T (p.Ala1047=)
|
rs1421186832
|
0.00001
|
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
|
NM_004415.4(DSP):c.3216C>T (p.Phe1072=)
|
rs774512190
|
0.00001
|
|
NM_004415.4(DSP):c.321G>A (p.Leu107=)
|
rs765707433
|
0.00001
|
|
NM_004415.4(DSP):c.3277G>A (p.Ala1093Thr)
|
rs1185986064
|
0.00001
|
|
NM_004415.4(DSP):c.327G>A (p.Glu109=)
|
rs750816128
|
0.00001
|
|
NM_004415.4(DSP):c.3333C>A (p.Ile1111=)
|
rs1759349079
|
0.00001
|
|
NM_004415.4(DSP):c.334G>T (p.Ala112Ser)
|
rs758746580
|
0.00001
|
|
NM_004415.4(DSP):c.3396T>C (p.Phe1132=)
|
rs41302881
|
0.00001
|
|
NM_004415.4(DSP):c.340G>A (p.Ala114Thr)
|
rs751745906
|
0.00001
|
|
NM_004415.4(DSP):c.3453G>A (p.Glu1151=)
|
rs1554108084
|
0.00001
|
|
NM_004415.4(DSP):c.3471A>G (p.Lys1157=)
|
rs371743739
|
0.00001
|
|
NM_004415.4(DSP):c.3526G>T (p.Val1176Phe)
|
rs1261167694
|
0.00001
|
|
NM_004415.4(DSP):c.3540A>G (p.Glu1180=)
|
rs555514197
|
0.00001
|
|
NM_004415.4(DSP):c.3546C>T (p.Gly1182=)
|
rs1355395147
|
0.00001
|
|
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
|
rs761331634
|
0.00001
|
|
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser)
|
rs777375223
|
0.00001
|
|
NM_004415.4(DSP):c.3649A>T (p.Thr1217Ser)
|
rs770484693
|
0.00001
|
|
NM_004415.4(DSP):c.364G>A (p.Asp122Asn)
|
rs756013600
|
0.00001
|
|
NM_004415.4(DSP):c.365A>G (p.Asp122Gly)
|
rs1206577405
|
0.00001
|
|
NM_004415.4(DSP):c.3680A>G (p.Gln1227Arg)
|
rs1458557680
|
0.00001
|
|
NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser)
|
rs185367490
|
0.00001
|
|
NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe)
|
rs752645827
|
0.00001
|
|
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn)
|
rs989348634
|
0.00001
|
|
NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu)
|
rs924651718
|
0.00001
|
|
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)
|
rs767643821
|
0.00001
|
|
NM_004415.4(DSP):c.3806G>T (p.Arg1269Leu)
|
rs876657795
|
0.00001
|
|
NM_004415.4(DSP):c.3819C>T (p.Asn1273=)
|
rs1390665527
|
0.00001
|
|
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr)
|
rs1285435504
|
0.00001
|
|
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
|
rs777763456
|
0.00001
|
|
NM_004415.4(DSP):c.3864G>A (p.Lys1288=)
|
rs768166626
|
0.00001
|
|
NM_004415.4(DSP):c.3878T>C (p.Ile1293Thr)
|
rs759823665
|
0.00001
|
|
NM_004415.4(DSP):c.38C>T (p.Thr13Ile)
|
rs201133637
|
0.00001
|
|
NM_004415.4(DSP):c.3903G>A (p.Gln1301=)
|
rs1284991362
|
0.00001
|
|
NM_004415.4(DSP):c.3905G>A (p.Arg1302His)
|
rs760691999
|
0.00001
|
|
NM_004415.4(DSP):c.3919G>A (p.Ala1307Thr)
|
rs367579811
|
0.00001
|
|
NM_004415.4(DSP):c.3968A>G (p.Lys1323Arg)
|
rs971198843
|
0.00001
|
|
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln)
|
rs41302883
|
0.00001
|
|
NM_004415.4(DSP):c.4021C>T (p.Arg1341Cys)
|
rs547568275
|
0.00001
|
|
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn)
|
rs144465638
|
0.00001
|
|
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)
|
rs530481219
|
0.00001
|
|
NM_004415.4(DSP):c.4142C>G (p.Thr1381Ser)
|
rs767174407
|
0.00001
|
|
NM_004415.4(DSP):c.4173C>T (p.Tyr1391=)
|
rs75537269
|
0.00001
|
|
NM_004415.4(DSP):c.4174C>T (p.Arg1392Trp)
|
rs987487921
|
0.00001
|
|
NM_004415.4(DSP):c.423G>C (p.Arg141Ser)
|
rs771688614
|
0.00001
|
|
NM_004415.4(DSP):c.4242C>T (p.Asn1414=)
|
rs375941706
|
0.00001
|
|
NM_004415.4(DSP):c.4248A>G (p.Leu1416=)
|
rs760259046
|
0.00001
|
|
NM_004415.4(DSP):c.4274G>A (p.Arg1425Lys)
|
rs577560157
|
0.00001
|
|
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro)
|
rs751972271
|
0.00001
|
|
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs)
|
rs1554108287
|
0.00001
|
|
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro)
|
rs1561698695
|
0.00001
|
|
NM_004415.4(DSP):c.4347T>G (p.Val1449=)
|
rs778043017
|
0.00001
|
|
NM_004415.4(DSP):c.4395T>C (p.Tyr1465=)
|
rs1236464864
|
0.00001
|
|
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe)
|
rs752121953
|
0.00001
|
|
NM_004415.4(DSP):c.4419C>T (p.Ala1473=)
|
rs727504542
|
0.00001
|
|
NM_004415.4(DSP):c.4446G>A (p.Glu1482=)
|
rs145213715
|
0.00001
|
|
NM_004415.4(DSP):c.4448T>C (p.Ile1483Thr)
|
rs745872344
|
0.00001
|
|
NM_004415.4(DSP):c.4513G>A (p.Ala1505Thr)
|
rs1488770025
|
0.00001
|
|
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys)
|
rs577061462
|
0.00001
|
|
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)
|
rs397516940
|
0.00001
|
|
NM_004415.4(DSP):c.4563G>A (p.Ala1521=)
|
rs774258993
|
0.00001
|
|
NM_004415.4(DSP):c.4566G>A (p.Thr1522=)
|
rs1159243386
|
0.00001
|
|
NM_004415.4(DSP):c.4577A>G (p.Asn1526Ser)
|
rs1759407586
|
0.00001
|
|
NM_004415.4(DSP):c.4592A>C (p.Gln1531Pro)
|
rs1208037043
|
0.00001
|
|
NM_004415.4(DSP):c.4620C>T (p.Ile1540=)
|
rs1385558717
|
0.00001
|
|
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)
|
rs750607476
|
0.00001
|
|
NM_004415.4(DSP):c.4625A>G (p.Tyr1542Cys)
|
rs1279142467
|
0.00001
|
|
NM_004415.4(DSP):c.4666A>G (p.Ile1556Val)
|
rs530647574
|
0.00001
|
|
NM_004415.4(DSP):c.4668C>T (p.Ile1556=)
|
rs1299604004
|
0.00001
|
|
NM_004415.4(DSP):c.4671G>A (p.Thr1557=)
|
rs367767551
|
0.00001
|
|
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro)
|
rs1394590334
|
0.00001
|
|
NM_004415.4(DSP):c.4698G>A (p.Leu1566=)
|
rs751608838
|
0.00001
|
|
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp)
|
rs755868373
|
0.00001
|
|
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln)
|
rs397516942
|
0.00001
|
|
NM_004415.4(DSP):c.4748C>G (p.Thr1583Ser)
|
rs778603023
|
0.00001
|
|
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu)
|
rs773622004
|
0.00001
|
|
NM_004415.4(DSP):c.4779G>A (p.Lys1593=)
|
rs759646052
|
0.00001
|
|
NM_004415.4(DSP):c.479G>A (p.Arg160Gln)
|
rs752941845
|
0.00001
|
|
NM_004415.4(DSP):c.4812G>A (p.Ser1604=)
|
rs778729982
|
0.00001
|
|
NM_004415.4(DSP):c.4841A>G (p.Asn1614Ser)
|
rs1759419529
|
0.00001
|
|
NM_004415.4(DSP):c.4859A>G (p.Glu1620Gly)
|
rs1423503309
|
0.00001
|
|
NM_004415.4(DSP):c.4871T>C (p.Ile1624Thr)
|
rs771250599
|
0.00001
|
|
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly)
|
rs1304994640
|
0.00001
|
|
NM_004415.4(DSP):c.4950C>G (p.Thr1650=)
|
rs948524246
|
0.00001
|
|
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)
|
rs749730642
|
0.00001
|
|
NM_004415.4(DSP):c.4983C>T (p.Val1661=)
|
rs755233649
|
0.00001
|
|
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)
|
rs757753880
|
0.00001
|
|
NM_004415.4(DSP):c.5091T>C (p.Asn1697=)
|
rs780353871
|
0.00001
|
|
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe)
|
rs372452104
|
0.00001
|
|
NM_004415.4(DSP):c.5151C>T (p.His1717=)
|
rs762841263
|
0.00001
|
|
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg)
|
rs377344768
|
0.00001
|
|
NM_004415.4(DSP):c.5217C>T (p.Ser1739=)
|
rs748263306
|
0.00001
|
|
NM_004415.4(DSP):c.5244C>T (p.Thr1748=)
|
rs759222918
|
0.00001
|
|
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)
|
rs763355815
|
0.00001
|
|
NM_004415.4(DSP):c.5284C>T (p.Arg1762Trp)
|
rs766833113
|
0.00001
|
|
NM_004415.4(DSP):c.5313T>C (p.Asn1771=)
|
rs757107485
|
0.00001
|
|
NM_004415.4(DSP):c.5380-15C>A
|
rs753028657
|
0.00001
|
|
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg)
|
rs987386495
|
0.00001
|
|
NM_004415.4(DSP):c.5550A>G (p.Lys1850=)
|
rs1759482564
|
0.00001
|
|
NM_004415.4(DSP):c.5572C>G (p.Gln1858Glu)
|
rs1474132784
|
0.00001
|
|
NM_004415.4(DSP):c.5589C>T (p.Asp1863=)
|
rs751379396
|
0.00001
|
|
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr)
|
rs562015789
|
0.00001
|
|
NM_004415.4(DSP):c.5594A>G (p.Asn1865Ser)
|
rs780714982
|
0.00001
|
|
NM_004415.4(DSP):c.5618G>A (p.Arg1873His)
|
rs776088292
|
0.00001
|
|
NM_004415.4(DSP):c.5631T>C (p.Ala1877=)
|
rs1231651139
|
0.00001
|
|
NM_004415.4(DSP):c.5647T>C (p.Ser1883Pro)
|
rs1056652234
|
0.00001
|
|
NM_004415.4(DSP):c.5648C>T (p.Ser1883Leu)
|
rs1418959797
|
0.00001
|
|
NM_004415.4(DSP):c.5649G>A (p.Ser1883=)
|
rs760974941
|
0.00001
|
|
NM_004415.4(DSP):c.5651A>G (p.Glu1884Gly)
|
rs1414563217
|
0.00001
|
|
NM_004415.4(DSP):c.5656G>C (p.Glu1886Gln)
|
rs776728790
|
0.00001
|
|
NM_004415.4(DSP):c.5749C>T (p.Leu1917=)
|
rs936938713
|
0.00001
|
|
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu)
|
rs794728104
|
0.00001
|
|
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys)
|
rs748825632
|
0.00001
|
|
NM_004415.4(DSP):c.5822A>C (p.Lys1941Thr)
|
rs143484124
|
0.00001
|
|
NM_004415.4(DSP):c.582G>T (p.Trp194Cys)
|
rs1345570966
|
0.00001
|
|
NM_004415.4(DSP):c.5833C>T (p.Arg1945Cys)
|
rs1456378645
|
0.00001
|
|
NM_004415.4(DSP):c.5838A>C (p.Pro1946=)
|
rs369822839
|
0.00001
|
|
NM_004415.4(DSP):c.5859C>G (p.Thr1953=)
|
rs752518537
|
0.00001
|
|
NM_004415.4(DSP):c.5875T>C (p.Trp1959Arg)
|
rs1759501923
|
0.00001
|
|
NM_004415.4(DSP):c.5880C>T (p.Thr1960=)
|
rs375883982
|
0.00001
|
|
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile)
|
rs368869076
|
0.00001
|
|
NM_004415.4(DSP):c.588G>A (p.Arg196=)
|
rs754666224
|
0.00001
|
|
NM_004415.4(DSP):c.5958C>T (p.Ile1986=)
|
rs577625038
|
0.00001
|
|
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)
|
rs759443302
|
0.00001
|
|
NM_004415.4(DSP):c.5963A>G (p.Lys1988Arg)
|
rs767516148
|
0.00001
|
|
NM_004415.4(DSP):c.598-5C>T
|
rs765653540
|
0.00001
|
|
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser)
|
rs794728128
|
0.00001
|
|
NM_004415.4(DSP):c.599C>T (p.Ala200Val)
|
rs1337095425
|
0.00001
|
|
NM_004415.4(DSP):c.6014C>T (p.Ala2005Val)
|
rs749925817
|
0.00001
|
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
|
NM_004415.4(DSP):c.6043G>A (p.Ala2015Thr)
|
rs1200353349
|
0.00001
|
|
NM_004415.4(DSP):c.6086A>G (p.Tyr2029Cys)
|
rs753271305
|
0.00001
|
|
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln)
|
rs185846631
|
0.00001
|
|
NM_004415.4(DSP):c.6137T>G (p.Val2046Gly)
|
rs746016404
|
0.00001
|
|
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile)
|
rs374226658
|
0.00001
|
|
NM_004415.4(DSP):c.6150G>A (p.Glu2050=)
|
rs1166392485
|
0.00001
|
|
NM_004415.4(DSP):c.61G>A (p.Glu21Lys)
|
rs747956457
|
0.00001
|
|
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr)
|
rs377035113
|
0.00001
|
|
NM_004415.4(DSP):c.6235G>C (p.Asp2079His)
|
rs992731463
|
0.00001
|
|
NM_004415.4(DSP):c.6241G>A (p.Asp2081Asn)
|
rs779129603
|
0.00001
|
|
NM_004415.4(DSP):c.6325G>A (p.Glu2109Lys)
|
rs397516951
|
0.00001
|
|
NM_004415.4(DSP):c.6332T>C (p.Ile2111Thr)
|
rs370865499
|
0.00001
|
|
NM_004415.4(DSP):c.6346A>G (p.Ile2116Val)
|
rs777184414
|
0.00001
|
|
NM_004415.4(DSP):c.6385A>G (p.Ile2129Val)
|
rs755981187
|
0.00001
|
|
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp)
|
rs762434061
|
0.00001
|
|
NM_004415.4(DSP):c.6441C>A (p.Val2147=)
|
rs762513279
|
0.00001
|
|
NM_004415.4(DSP):c.6497G>A (p.Arg2166Gln)
|
rs771692503
|
0.00001
|
|
NM_004415.4(DSP):c.6549C>T (p.Tyr2183=)
|
rs771461040
|
0.00001
|
|
NM_004415.4(DSP):c.6550G>A (p.Val2184Met)
|
rs774832931
|
0.00001
|
|
NM_004415.4(DSP):c.6585T>C (p.His2195=)
|
rs1759541694
|
0.00001
|
|
NM_004415.4(DSP):c.6592C>G (p.Leu2198Val)
|
rs752057967
|
0.00001
|
|
NM_004415.4(DSP):c.664C>T (p.Arg222Trp)
|
rs1233981969
|
0.00001
|
|
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)
|
rs759982048
|
0.00001
|
|
NM_004415.4(DSP):c.6699C>T (p.Val2233=)
|
rs767835744
|
0.00001
|
|
NM_004415.4(DSP):c.677A>G (p.Asn226Ser)
|
rs921332894
|
0.00001
|
|
NM_004415.4(DSP):c.6852A>G (p.Arg2284=)
|
rs141148057
|
0.00001
|
|
NM_004415.4(DSP):c.6879A>G (p.Glu2293=)
|
rs1327990933
|
0.00001
|
|
NM_004415.4(DSP):c.6880G>A (p.Ala2294Thr)
|
rs1422022096
|
0.00001
|
|
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr)
|
rs772381363
|
0.00001
|
|
NM_004415.4(DSP):c.6921C>T (p.Asn2307=)
|
rs775897238
|
0.00001
|
|
NM_004415.4(DSP):c.6927G>A (p.Arg2309=)
|
rs747248981
|
0.00001
|
|
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys)
|
rs770210088
|
0.00001
|
|
NM_004415.4(DSP):c.6930A>G (p.Leu2310=)
|
rs1759552189
|
0.00001
|
|
NM_004415.4(DSP):c.6932C>T (p.Pro2311Leu)
|
rs768947332
|
0.00001
|
|
NM_004415.4(DSP):c.6939G>A (p.Glu2313=)
|
rs1471693700
|
0.00001
|
|
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys)
|
rs765245807
|
0.00001
|
|
NM_004415.4(DSP):c.7000C>T (p.Arg2334Ter)
|
rs369482721
|
0.00001
|
|
NM_004415.4(DSP):c.7046C>G (p.Ser2349Cys)
|
rs769930190
|
0.00001
|
|
NM_004415.4(DSP):c.7068G>A (p.Lys2356=)
|
rs762892811
|
0.00001
|
|
NM_004415.4(DSP):c.7089C>T (p.His2363=)
|
rs1001343270
|
0.00001
|
|
NM_004415.4(DSP):c.7102T>C (p.Leu2368=)
|
rs1581823488
|
0.00001
|
|
NM_004415.4(DSP):c.7162G>A (p.Val2388Ile)
|
rs370490538
|
0.00001
|
|
NM_004415.4(DSP):c.7193A>G (p.Asn2398Ser)
|
rs1251606363
|
0.00001
|
|
NM_004415.4(DSP):c.720C>T (p.Ala240=)
|
rs1324798719
|
0.00001
|
|
NM_004415.4(DSP):c.7215C>T (p.Leu2405=)
|
rs191226040
|
0.00001
|
|
NM_004415.4(DSP):c.721G>A (p.Asp241Asn)
|
rs868293429
|
0.00001
|
|
NM_004415.4(DSP):c.7235C>A (p.Thr2412Asn)
|
rs775399575
|
0.00001
|
|
NM_004415.4(DSP):c.7279C>A (p.Leu2427Met)
|
rs555784793
|
0.00001
|
|
NM_004415.4(DSP):c.7341A>C (p.Lys2447Asn)
|
rs755448403
|
0.00001
|
|
NM_004415.4(DSP):c.7383C>T (p.Leu2461=)
|
rs771106689
|
0.00001
|
|
NM_004415.4(DSP):c.7390C>T (p.Arg2464Cys)
|
rs778822920
|
0.00001
|
|
NM_004415.4(DSP):c.7413A>G (p.Pro2471=)
|
rs772161814
|
0.00001
|
|
NM_004415.4(DSP):c.7433C>T (p.Ser2478Phe)
|
rs1759570987
|
0.00001
|
|
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg)
|
rs1346398330
|
0.00001
|
|
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn)
|
rs760552749
|
0.00001
|
|
NM_004415.4(DSP):c.7470T>C (p.Tyr2490=)
|
rs372896350
|
0.00001
|
|
NM_004415.4(DSP):c.7501T>C (p.Cys2501Arg)
|
rs776405018
|
0.00001
|
|
NM_004415.4(DSP):c.7527G>A (p.Thr2509=)
|
rs1405309527
|
0.00001
|
|
NM_004415.4(DSP):c.7530A>G (p.Gly2510=)
|
rs1364525049
|
0.00001
|
|
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr)
|
rs772574987
|
0.00001
|
|
NM_004415.4(DSP):c.7549G>T (p.Val2517Leu)
|
rs764359340
|
0.00001
|
|
NM_004415.4(DSP):c.7551G>A (p.Val2517=)
|
rs754127386
|
0.00001
|
|
NM_004415.4(DSP):c.7618G>A (p.Asp2540Asn)
|
rs761136328
|
0.00001
|
|
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)
|
rs1464253797
|
0.00001
|
|
NM_004415.4(DSP):c.764A>T (p.Tyr255Phe)
|
rs1490279963
|
0.00001
|
|
NM_004415.4(DSP):c.7650C>T (p.Gly2550=)
|
rs780277298
|
0.00001
|
|
NM_004415.4(DSP):c.7701C>T (p.Val2567=)
|
rs772907439
|
0.00001
|
|
NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser)
|
rs139486943
|
0.00001
|
|
NM_004415.4(DSP):c.7735G>A (p.Asp2579Asn)
|
rs750744914
|
0.00001
|
|
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys)
|
rs751712837
|
0.00001
|
|
NM_004415.4(DSP):c.7751G>A (p.Ser2584Asn)
|
rs1186385876
|
0.00001
|
|
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser)
|
rs563272509
|
0.00001
|
|
NM_004415.4(DSP):c.778-9C>T
|
rs773949949
|
0.00001
|
|
NM_004415.4(DSP):c.7783A>G (p.Thr2595Ala)
|
rs1170072296
|
0.00001
|
|
NM_004415.4(DSP):c.7784C>T (p.Thr2595Ile)
|
rs772951950
|
0.00001
|
|
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val)
|
rs1301635888
|
0.00001
|
|
NM_004415.4(DSP):c.7847C>T (p.Ser2616Leu)
|
rs571577908
|
0.00001
|
|
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val)
|
rs767630308
|
0.00001
|
|
NM_004415.4(DSP):c.7864A>G (p.Ile2622Val)
|
rs752616130
|
0.00001
|
|
NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln)
|
rs144821643
|
0.00001
|
|
NM_004415.4(DSP):c.7923C>T (p.Ile2641=)
|
rs773906008
|
0.00001
|
|
NM_004415.4(DSP):c.7937C>T (p.Thr2646Met)
|
rs1425701789
|
0.00001
|
|
NM_004415.4(DSP):c.794G>A (p.Arg265Lys)
|
rs1064796438
|
0.00001
|
|
NM_004415.4(DSP):c.7962G>A (p.Gln2654=)
|
rs767539050
|
0.00001
|
|
NM_004415.4(DSP):c.7986C>A (p.His2662Gln)
|
rs753720770
|
0.00001
|
|
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)
|
rs151309106
|
0.00001
|
|
NM_004415.4(DSP):c.8015A>C (p.Gln2672Pro)
|
rs1060500612
|
0.00001
|
|
NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser)
|
rs1371748682
|
0.00001
|
|
NM_004415.4(DSP):c.8050A>G (p.Met2684Val)
|
rs147801650
|
0.00001
|
|
NM_004415.4(DSP):c.8094C>T (p.Phe2698=)
|
rs1201885200
|
0.00001
|
|
NM_004415.4(DSP):c.809G>A (p.Arg270Gln)
|
rs1203795810
|
0.00001
|
|
NM_004415.4(DSP):c.8118G>C (p.Lys2706Asn)
|
rs751201132
|
0.00001
|
|
NM_004415.4(DSP):c.8136A>T (p.Ala2712=)
|
rs1759620884
|
0.00001
|
|
NM_004415.4(DSP):c.8169C>T (p.Gly2723=)
|
rs1259495339
|
0.00001
|
|
NM_004415.4(DSP):c.8174G>A (p.Arg2725His)
|
rs776674939
|
0.00001
|
|
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)
|
rs201397978
|
0.00001
|
|
NM_004415.4(DSP):c.8216C>T (p.Pro2739Leu)
|
rs761527198
|
0.00001
|
|
NM_004415.4(DSP):c.8217G>A (p.Pro2739=)
|
rs755508926
|
0.00001
|
|
NM_004415.4(DSP):c.8221G>A (p.Val2741Met)
|
rs779485431
|
0.00001
|
|
NM_004415.4(DSP):c.8277C>T (p.Arg2759=)
|
rs1248664648
|
0.00001
|
|
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)
|
rs991726607
|
0.00001
|
|
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys)
|
rs371020228
|
0.00001
|
|
NM_004415.4(DSP):c.8310T>C (p.Tyr2770=)
|
rs750982524
|
0.00001
|
|
NM_004415.4(DSP):c.8330C>A (p.Pro2777His)
|
rs376273136
|
0.00001
|
|
NM_004415.4(DSP):c.8372G>A (p.Arg2791His)
|
rs749339594
|
0.00001
|
|
NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr)
|
rs769734918
|
0.00001
|
|
NM_004415.4(DSP):c.8440C>T (p.Pro2814Ser)
|
rs1303168294
|
0.00001
|
|
NM_004415.4(DSP):c.8477G>A (p.Arg2826His)
|
rs548754771
|
0.00001
|
|
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val)
|
rs397516970
|
0.00001
|
|
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys)
|
rs767961179
|
0.00001
|
|
NM_004415.4(DSP):c.8508A>G (p.Gly2836=)
|
rs754074127
|
0.00001
|
|
NM_004415.4(DSP):c.8511T>C (p.Ser2837=)
|
rs757475874
|
0.00001
|
|
NM_004415.4(DSP):c.8539A>C (p.Arg2847=)
|
rs113629968
|
0.00001
|
|
NM_004415.4(DSP):c.8580T>C (p.Tyr2860=)
|
rs201441128
|
0.00001
|
|
NM_004415.4(DSP):c.8608G>A (p.Gly2870Arg)
|
rs1258855325
|
0.00001
|
|
NM_004415.4(DSP):c.8610G>A (p.Gly2870=)
|
rs910215418
|
0.00001
|
|
NM_004415.4(DSP):c.900C>A (p.Asp300Glu)
|
rs374335702
|
0.00001
|
|
NM_004415.4(DSP):c.940-5C>T
|
rs368391882
|
0.00001
|
|
NM_004415.4(DSP):c.940-9C>T
|
rs1016646349
|
0.00001
|
|
NM_004415.4(DSP):c.946A>G (p.Met316Val)
|
rs201672777
|
0.00001
|
|
NM_004415.4(DSP):c.965A>G (p.Lys322Arg)
|
rs757098196
|
0.00001
|
|
NM_004612.4(TGFBR1):c.*2T>C
|
rs922249989
|
0.00001
|
|
NM_004612.4(TGFBR1):c.*5A>G
|
rs201254457
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1008A>G (p.Ser336=)
|
rs761512764
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1022T>C (p.Val341Ala)
|
rs1162682079
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1131-10T>A
|
rs1390613164
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1190A>G (p.Lys397Arg)
|
rs907536931
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1205A>G (p.Tyr402Cys)
|
rs762486367
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1211T>C (p.Met404Thr)
|
rs1241201708
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1236T>G (p.Ala412=)
|
rs895357571
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1256-3C>T
|
rs755431191
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1256-8T>C
|
rs1187207740
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1350A>G (p.Leu450=)
|
rs897701457
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1386+6T>C
|
rs1375191528
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1394G>A (p.Arg465Lys)
|
rs556555554
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1425G>T (p.Trp475Cys)
|
rs767589799
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1435G>A (p.Gly479Arg)
|
rs377194685
|
0.00001
|
|
NM_004612.4(TGFBR1):c.220G>A (p.Glu74Lys)
|
rs998268148
|
0.00001
|
|
NM_004612.4(TGFBR1):c.222A>C (p.Glu74Asp)
|
rs201910738
|
0.00001
|
|
NM_004612.4(TGFBR1):c.249G>A (p.Pro83=)
|
rs200091200
|
0.00001
|
|
NM_004612.4(TGFBR1):c.376C>G (p.Leu126Val)
|
rs756586874
|
0.00001
|
|
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys)
|
rs776680716
|
0.00001
|
|
NM_004612.4(TGFBR1):c.561A>G (p.Ser187=)
|
rs1315925147
|
0.00001
|
|
NM_004612.4(TGFBR1):c.583T>C (p.Leu195=)
|
rs1827483486
|
0.00001
|
|
NM_004612.4(TGFBR1):c.606G>A (p.Ala202=)
|
rs201497553
|
0.00001
|
|
NM_004612.4(TGFBR1):c.714A>C (p.Glu238Asp)
|
rs1827490717
|
0.00001
|
|
NM_004612.4(TGFBR1):c.720T>C (p.Arg240=)
|
rs200078591
|
0.00001
|
|
NM_004612.4(TGFBR1):c.813T>C (p.Gly271=)
|
rs200511345
|
0.00001
|
|
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His)
|
rs755827803
|
0.00001
|
|
NM_004612.4(TGFBR1):c.883T>A (p.Tyr295Asn)
|
rs200560562
|
0.00001
|
|
NM_004612.4(TGFBR1):c.888A>G (p.Thr296=)
|
rs201943631
|
0.00001
|
|
NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile)
|
rs757284158
|
0.00001
|
|
NM_004612.4(TGFBR1):c.897G>A (p.Val299=)
|
rs369881419
|
0.00001
|
|
NM_004612.4(TGFBR1):c.927G>A (p.Thr309=)
|
rs201323409
|
0.00001
|
|
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)
|
rs760079636
|
0.00001
|
|
NM_004612.4(TGFBR1):c.99G>A (p.Ala33=)
|
rs779055286
|
0.00001
|
|
NM_005159.5(ACTC1):c.-12A>G
|
rs372036883
|
0.00001
|
|
NM_005159.5(ACTC1):c.1035C>T (p.Gly345=)
|
rs1430980455
|
0.00001
|
|
NM_005159.5(ACTC1):c.1044G>A (p.Leu348=)
|
rs1461497941
|
0.00001
|
|
NM_005159.5(ACTC1):c.108C>T (p.Ile36=)
|
rs1457769757
|
0.00001
|
|
NM_005159.5(ACTC1):c.1098G>A (p.Glu366=)
|
rs758173419
|
0.00001
|
|
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr)
|
rs370256882
|
0.00001
|
|
NM_005159.5(ACTC1):c.117C>T (p.Arg39=)
|
rs751851323
|
0.00001
|
|
NM_005159.5(ACTC1):c.129G>A (p.Gln43=)
|
rs878854753
|
0.00001
|
|
NM_005159.5(ACTC1):c.240C>T (p.Asn80=)
|
rs1178754602
|
0.00001
|
|
NM_005159.5(ACTC1):c.318G>A (p.Leu106=)
|
rs1335305223
|
0.00001
|
|
NM_005159.5(ACTC1):c.352C>A (p.Arg118=)
|
rs1159252460
|
0.00001
|
|
NM_005159.5(ACTC1):c.369G>A (p.Gln123=)
|
rs768169477
|
0.00001
|
|
NM_005159.5(ACTC1):c.432G>T (p.Leu144=)
|
rs1595761302
|
0.00001
|
|
NM_005159.5(ACTC1):c.447T>C (p.Arg149=)
|
rs1315206069
|
0.00001
|
|
NM_005159.5(ACTC1):c.454+5G>C
|
rs756249146
|
0.00001
|
|
NM_005159.5(ACTC1):c.455-6G>A
|
rs1359050330
|
0.00001
|
|
NM_005159.5(ACTC1):c.455-9C>T
|
rs1891726942
|
0.00001
|
|
NM_005159.5(ACTC1):c.5G>A (p.Cys2Tyr)
|
rs1469206760
|
0.00001
|
|
NM_005159.5(ACTC1):c.609C>T (p.Val203=)
|
rs1055408313
|
0.00001
|
|
NM_005159.5(ACTC1):c.617-7T>C
|
rs750536667
|
0.00001
|
|
NM_005159.5(ACTC1):c.633C>T (p.Val211=)
|
rs199947846
|
0.00001
|
|
NM_005159.5(ACTC1):c.663C>T (p.Val221=)
|
rs766868624
|
0.00001
|
|
NM_005159.5(ACTC1):c.756T>C (p.Ile252=)
|
rs371940910
|
0.00001
|
|
NM_005159.5(ACTC1):c.809-9C>T
|
rs752499457
|
0.00001
|
|
NM_005159.5(ACTC1):c.81C>T (p.Asp27=)
|
rs753552901
|
0.00001
|
|
NM_005159.5(ACTC1):c.93T>C (p.Ala31=)
|
rs1341945129
|
0.00001
|
|
NM_005159.5(ACTC1):c.994A>G (p.Ile332Val)
|
rs749354463
|
0.00001
|
|
NM_005902.4(SMAD3):c.*4C>T
|
rs1252748287
|
0.00001
|
|
NM_005902.4(SMAD3):c.*6del
|
rs772778568
|
0.00001
|
|
NM_005902.4(SMAD3):c.-10C>T
|
rs777303695
|
0.00001
|
|
NM_005902.4(SMAD3):c.1009+5A>C
|
rs772995932
|
0.00001
|
|
NM_005902.4(SMAD3):c.1009+6C>T
|
rs749052145
|
0.00001
|
|
NM_005902.4(SMAD3):c.1010-10T>C
|
rs1179340088
|
0.00001
|
|
NM_005902.4(SMAD3):c.1010-12T>C
|
rs773629535
|
0.00001
|
|
NM_005902.4(SMAD3):c.1059C>A (p.Ala353=)
|
rs767649515
|
0.00001
|
|
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile)
|
rs730880216
|
0.00001
|
|
NM_005902.4(SMAD3):c.1143A>G (p.Gly381=)
|
rs992420866
|
0.00001
|
|
NM_005902.4(SMAD3):c.1197C>T (p.His399=)
|
rs760873147
|
0.00001
|
|
NM_005902.4(SMAD3):c.175A>G (p.Asn59Asp)
|
rs745387614
|
0.00001
|
|
NM_005902.4(SMAD3):c.195C>T (p.Ile65=)
|
rs368462984
|
0.00001
|
|
NM_005902.4(SMAD3):c.207-3C>A
|
rs757772685
|
0.00001
|
|
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)
|
rs1343295267
|
0.00001
|
|
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys)
|
rs1085307496
|
0.00001
|
|
NM_005902.4(SMAD3):c.277C>T (p.Arg93Ter)
|
rs768713596
|
0.00001
|
|
NM_005902.4(SMAD3):c.294C>T (p.His98=)
|
rs781320332
|
0.00001
|
|
NM_005902.4(SMAD3):c.303C>T (p.His101=)
|
rs762889441
|
0.00001
|
|
NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser)
|
rs369221296
|
0.00001
|
|
NM_005902.4(SMAD3):c.355G>A (p.Glu119Lys)
|
rs1165259401
|
0.00001
|
|
NM_005902.4(SMAD3):c.363C>T (p.Cys121=)
|
rs760286714
|
0.00001
|
|
NM_005902.4(SMAD3):c.36G>A (p.Val12=)
|
rs201824839
|
0.00001
|
|
NM_005902.4(SMAD3):c.391G>C (p.Glu131Gln)
|
rs750982529
|
0.00001
|
|
NM_005902.4(SMAD3):c.401T>C (p.Val134Ala)
|
rs863223767
|
0.00001
|
|
NM_005902.4(SMAD3):c.408T>C (p.Pro136=)
|
rs1256814354
|
0.00001
|
|
NM_005902.4(SMAD3):c.414G>A (p.Val138=)
|
rs771802144
|
0.00001
|
|
NM_005902.4(SMAD3):c.424C>T (p.Arg142Cys)
|
rs1253901433
|
0.00001
|
|
NM_005902.4(SMAD3):c.444C>T (p.Ala148=)
|
rs563100221
|
0.00001
|
|
NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln)
|
rs375574124
|
0.00001
|
|
NM_005902.4(SMAD3):c.462C>T (p.Asp154=)
|
rs756124653
|
0.00001
|
|
NM_005902.4(SMAD3):c.48G>A (p.Leu16=)
|
rs886039210
|
0.00001
|
|
NM_005902.4(SMAD3):c.498C>T (p.Phe166=)
|
rs1217111697
|
0.00001
|
|
NM_005902.4(SMAD3):c.501C>T (p.Pro167=)
|
rs138395233
|
0.00001
|
|
NM_005902.4(SMAD3):c.502G>A (p.Ala168Thr)
|
rs548756379
|
0.00001
|
|
NM_005902.4(SMAD3):c.575G>C (p.Ser192Thr)
|
rs1264997614
|
0.00001
|
|
NM_005902.4(SMAD3):c.597C>T (p.Ser199=)
|
rs769225687
|
0.00001
|
|
NM_005902.4(SMAD3):c.604G>A (p.Ala202Thr)
|
rs760091844
|
0.00001
|
|
NM_005902.4(SMAD3):c.607+5G>T
|
rs772419612
|
0.00001
|
|
NM_005902.4(SMAD3):c.613C>T (p.Pro205Ser)
|
rs150682850
|
0.00001
|
|
NM_005902.4(SMAD3):c.633G>A (p.Pro211=)
|
rs776009102
|
0.00001
|
|
NM_005902.4(SMAD3):c.63C>A (p.Gly21=)
|
rs751526306
|
0.00001
|
|
NM_005902.4(SMAD3):c.643G>A (p.Ala215Thr)
|
rs1962721856
|
0.00001
|
|
NM_005902.4(SMAD3):c.648T>C (p.His216=)
|
rs776900159
|
0.00001
|
|
NM_005902.4(SMAD3):c.657G>C (p.Leu219Phe)
|
rs886038567
|
0.00001
|
|
NM_005902.4(SMAD3):c.6G>A (p.Ser2=)
|
rs775955959
|
0.00001
|
|
NM_005902.4(SMAD3):c.729C>T (p.Arg243=)
|
rs569358776
|
0.00001
|
|
NM_005902.4(SMAD3):c.72C>T (p.Asn24=)
|
rs780995229
|
0.00001
|
|
NM_005902.4(SMAD3):c.732C>T (p.Val244=)
|
rs749576770
|
0.00001
|
|
NM_005902.4(SMAD3):c.744C>T (p.Phe248=)
|
rs376023379
|
0.00001
|
|
NM_005902.4(SMAD3):c.798G>A (p.Ser266=)
|
rs761391442
|
0.00001
|
|
NM_005902.4(SMAD3):c.801G>A (p.Glu267=)
|
rs764958567
|
0.00001
|
|
NM_005902.4(SMAD3):c.81G>A (p.Glu27=)
|
rs755882401
|
0.00001
|
|
NM_005902.4(SMAD3):c.828T>C (p.Asn276=)
|
rs1375211503
|
0.00001
|
|
NM_005902.4(SMAD3):c.913G>A (p.Ala305Thr)
|
rs1348033858
|
0.00001
|
|
NM_016203.4(PRKAG2):c.-12C>G
|
rs765372069
|
0.00001
|
|
NM_016203.4(PRKAG2):c.-6dup
|
rs1203090914
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1020A>G (p.Glu340=)
|
rs770773856
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1052-6A>G
|
rs772764664
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1112T>A (p.Phe371Tyr)
|
rs769892556
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1172T>C (p.Ile391Thr)
|
rs1425296851
|
0.00001
|
|
NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln)
|
rs139653890
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1200C>T (p.Thr400=)
|
rs779897567
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1234-6G>T
|
rs780341115
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1234-7C>T
|
rs1456377814
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys)
|
rs758756757
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1254T>C (p.Pro418=)
|
rs753059650
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1255G>A (p.Ala419Thr)
|
rs373919593
|
0.00001
|
|
NM_016203.4(PRKAG2):c.131C>T (p.Ala44Val)
|
rs730880984
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1361A>G (p.Glu454Gly)
|
rs940818676
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)
|
rs397517264
|
0.00001
|
|
NM_016203.4(PRKAG2):c.141C>T (p.Leu47=)
|
rs1244792476
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1438-5T>C
|
rs190863830
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1450G>C (p.Glu484Gln)
|
rs1469637477
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)
|
rs186114650
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1479G>A (p.Thr493=)
|
rs367768776
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1502G>A (p.Arg501His)
|
rs144077131
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)
|
rs727504337
|
0.00001
|
|
NM_016203.4(PRKAG2):c.161G>A (p.Gly54Asp)
|
rs878855019
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1621A>G (p.Ile541Val)
|
rs1381567996
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1637C>G (p.Ser546Cys)
|
rs1584912413
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)
|
rs397517267
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1693G>C (p.Glu565Gln)
|
rs763331532
|
0.00001
|
|
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)
|
rs730880970
|
0.00001
|
|
NM_016203.4(PRKAG2):c.265A>G (p.Met89Val)
|
rs1471914210
|
0.00001
|
|
NM_016203.4(PRKAG2):c.274C>A (p.Pro92Thr)
|
rs1170556084
|
0.00001
|
|
NM_016203.4(PRKAG2):c.275C>A (p.Pro92His)
|
rs375398155
|
0.00001
|
|
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)
|
rs1041124171
|
0.00001
|
|
NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu)
|
rs730880985
|
0.00001
|
|
NM_016203.4(PRKAG2):c.331C>A (p.Gln111Lys)
|
rs778331706
|
0.00001
|
|
NM_016203.4(PRKAG2):c.350C>T (p.Ser117Phe)
|
rs372433693
|
0.00001
|
|
NM_016203.4(PRKAG2):c.355C>T (p.Arg119Ter)
|
rs1177945294
|
0.00001
|
|
NM_016203.4(PRKAG2):c.376A>G (p.Ile126Val)
|
rs1379819489
|
0.00001
|
|
NM_016203.4(PRKAG2):c.38A>G (p.Asp13Gly)
|
rs768453540
|
0.00001
|
|
NM_016203.4(PRKAG2):c.390C>G (p.Ser130=)
|
rs1400706351
|
0.00001
|
|
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg)
|
rs779753891
|
0.00001
|
|
NM_016203.4(PRKAG2):c.40G>C (p.Val14Leu)
|
rs150188173
|
0.00001
|
|
NM_016203.4(PRKAG2):c.410A>G (p.Asn137Ser)
|
rs869025498
|
0.00001
|
|
NM_016203.4(PRKAG2):c.418C>T (p.Pro140Ser)
|
rs755782342
|
0.00001
|
|
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu)
|
rs397517271
|
0.00001
|
|
NM_016203.4(PRKAG2):c.42T>A (p.Val14=)
|
rs141316327
|
0.00001
|
|
NM_016203.4(PRKAG2):c.466+2T>G
|
rs962806505
|
0.00001
|
|
NM_016203.4(PRKAG2):c.467-15G>A
|
rs139162723
|
0.00001
|
|
NM_016203.4(PRKAG2):c.475C>T (p.Leu159Phe)
|
rs1832795622
|
0.00001
|
|
NM_016203.4(PRKAG2):c.482C>T (p.Ser161Phe)
|
rs748557485
|
0.00001
|
|
NM_016203.4(PRKAG2):c.515A>C (p.Gln172Pro)
|
rs969117866
|
0.00001
|
|
NM_016203.4(PRKAG2):c.522G>A (p.Thr174=)
|
rs558951955
|
0.00001
|
|
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=)
|
rs373000537
|
0.00001
|
|
NM_016203.4(PRKAG2):c.541A>C (p.Lys181Gln)
|
rs765259437
|
0.00001
|
|
NM_016203.4(PRKAG2):c.546C>T (p.His182=)
|
rs1221506447
|
0.00001
|
|
NM_016203.4(PRKAG2):c.547G>A (p.Glu183Lys)
|
rs1131692281
|
0.00001
|
|
NM_016203.4(PRKAG2):c.556C>A (p.Arg186=)
|
rs200392688
|
0.00001
|
|
NM_016203.4(PRKAG2):c.569G>A (p.Arg190His)
|
rs551795395
|
0.00001
|
|
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu)
|
rs368522976
|
0.00001
|
|
NM_016203.4(PRKAG2):c.570C>T (p.Arg190=)
|
rs141191531
|
0.00001
|
|
NM_016203.4(PRKAG2):c.582G>A (p.Ser194=)
|
rs756215060
|
0.00001
|
|
NM_016203.4(PRKAG2):c.585T>A (p.Ser195=)
|
rs781522393
|
0.00001
|
|
NM_016203.4(PRKAG2):c.587C>T (p.Ser196Phe)
|
rs267601424
|
0.00001
|
|
NM_016203.4(PRKAG2):c.60C>T (p.Ser20=)
|
rs745416806
|
0.00001
|
|
NM_016203.4(PRKAG2):c.636G>A (p.Pro212=)
|
rs149820808
|
0.00001
|
|
NM_016203.4(PRKAG2):c.640A>G (p.Arg214Gly)
|
rs730880987
|
0.00001
|
|
NM_016203.4(PRKAG2):c.648A>G (p.Pro216=)
|
rs751742816
|
0.00001
|
|
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu)
|
rs200181419
|
0.00001
|
|
NM_016203.4(PRKAG2):c.660G>A (p.Pro220=)
|
rs774279454
|
0.00001
|
|
NM_016203.4(PRKAG2):c.679A>G (p.Lys227Glu)
|
rs766460601
|
0.00001
|
|
NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln)
|
rs780864954
|
0.00001
|
|
NM_016203.4(PRKAG2):c.684C>T (p.Ala228=)
|
rs151108625
|
0.00001
|
|
NM_016203.4(PRKAG2):c.685-7C>A
|
rs397517278
|
0.00001
|
|
NM_016203.4(PRKAG2):c.68A>G (p.Lys23Arg)
|
rs1280299073
|
0.00001
|
|
NM_016203.4(PRKAG2):c.691C>T (p.Leu231=)
|
rs745772277
|
0.00001
|
|
NM_016203.4(PRKAG2):c.703C>T (p.Leu235=)
|
rs1476121151
|
0.00001
|
|
NM_016203.4(PRKAG2):c.713C>T (p.Ala238Val)
|
rs1184637689
|
0.00001
|
|
NM_016203.4(PRKAG2):c.732G>A (p.Glu244=)
|
rs777165701
|
0.00001
|
|
NM_016203.4(PRKAG2):c.804C>T (p.His268=)
|
rs1814239943
|
0.00001
|
|
NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala)
|
rs730880975
|
0.00001
|
|
NM_016203.4(PRKAG2):c.88A>C (p.Arg30=)
|
rs756923555
|
0.00001
|
|
NM_016203.4(PRKAG2):c.897C>T (p.Asn299=)
|
rs201876556
|
0.00001
|
|
NM_016203.4(PRKAG2):c.979C>T (p.Leu327=)
|
rs730880988
|
0.00001
|
|
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala)
|
rs775005432
|
0.00001
|
|
NM_024334.3(TMEM43):c.1000+2T>C
|
rs748618994
|
0.00001
|
|
NM_024334.3(TMEM43):c.1001-11C>T
|
rs755132712
|
0.00001
|
|
NM_024334.3(TMEM43):c.1037T>C (p.Ile346Thr)
|
rs1286798674
|
0.00001
|
|
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser)
|
rs565997790
|
0.00001
|
|
NM_024334.3(TMEM43):c.1067C>T (p.Ala356Val)
|
rs1465084342
|
0.00001
|
|
NM_024334.3(TMEM43):c.1074G>A (p.Ser358=)
|
rs377104916
|
0.00001
|
|
NM_024334.3(TMEM43):c.1085T>G (p.Leu362Arg)
|
rs756256793
|
0.00001
|
|
NM_024334.3(TMEM43):c.1090G>A (p.Val364Met)
|
rs754236206
|
0.00001
|
|
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs)
|
rs746672224
|
0.00001
|
|
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser)
|
rs767916602
|
0.00001
|
|
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp)
|
rs765762863
|
0.00001
|
|
NM_024334.3(TMEM43):c.1180G>A (p.Val394Met)
|
rs758697367
|
0.00001
|
|
NM_024334.3(TMEM43):c.118C>G (p.Leu40Val)
|
rs755682525
|
0.00001
|
|
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His)
|
rs727505249
|
0.00001
|
|
NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp)
|
rs201453637
|
0.00001
|
|
NM_024334.3(TMEM43):c.167G>A (p.Arg56His)
|
rs747164382
|
0.00001
|
|
NM_024334.3(TMEM43):c.168C>T (p.Arg56=)
|
rs768752495
|
0.00001
|
|
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly)
|
rs1225730180
|
0.00001
|
|
NM_024334.3(TMEM43):c.186C>G (p.Thr62=)
|
rs773764939
|
0.00001
|
|
NM_024334.3(TMEM43):c.207G>A (p.Ser69=)
|
rs886058030
|
0.00001
|
|
NM_024334.3(TMEM43):c.208C>T (p.Leu70Phe)
|
rs577359875
|
0.00001
|
|
NM_024334.3(TMEM43):c.213G>A (p.Val71=)
|
rs756764750
|
0.00001
|
|
NM_024334.3(TMEM43):c.223G>A (p.Asp75Asn)
|
rs138764471
|
0.00001
|
|
NM_024334.3(TMEM43):c.227G>A (p.Ser76Asn)
|
rs144663367
|
0.00001
|
|
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala)
|
rs148171303
|
0.00001
|
|
NM_024334.3(TMEM43):c.246G>A (p.Pro82=)
|
rs376098518
|
0.00001
|
|
NM_024334.3(TMEM43):c.251A>G (p.Asn84Ser)
|
rs773605236
|
0.00001
|
|
NM_024334.3(TMEM43):c.252T>C (p.Asn84=)
|
rs1197228653
|
0.00001
|
|
NM_024334.3(TMEM43):c.324C>T (p.Val108=)
|
rs371279985
|
0.00001
|
|
NM_024334.3(TMEM43):c.333G>A (p.Pro111=)
|
rs774276092
|
0.00001
|
|
NM_024334.3(TMEM43):c.344T>C (p.Leu115Pro)
|
rs376182664
|
0.00001
|
|
NM_024334.3(TMEM43):c.346C>T (p.Arg116Trp)
|
rs752588115
|
0.00001
|
|
NM_024334.3(TMEM43):c.353A>G (p.His118Arg)
|
rs796729938
|
0.00001
|
|
NM_024334.3(TMEM43):c.354C>T (p.His118=)
|
rs754103544
|
0.00001
|
|
NM_024334.3(TMEM43):c.380C>T (p.Thr127Ile)
|
rs754381041
|
0.00001
|
|
NM_024334.3(TMEM43):c.381T>C (p.Thr127=)
|
rs778409275
|
0.00001
|
|
NM_024334.3(TMEM43):c.42T>C (p.His14=)
|
rs773252383
|
0.00001
|
|
NM_024334.3(TMEM43):c.440A>T (p.Tyr147Phe)
|
rs766312977
|
0.00001
|
|
NM_024334.3(TMEM43):c.443-10C>T
|
rs1695115549
|
0.00001
|
|
NM_024334.3(TMEM43):c.443-12C>G
|
rs368555747
|
0.00001
|
|
NM_024334.3(TMEM43):c.47A>T (p.Lys16Ile)
|
rs770619613
|
0.00001
|
|
NM_024334.3(TMEM43):c.483C>T (p.Phe161=)
|
rs772842801
|
0.00001
|
|
NM_024334.3(TMEM43):c.497G>C (p.Gly166Ala)
|
rs767516734
|
0.00001
|
|
NM_024334.3(TMEM43):c.500A>G (p.His167Arg)
|
rs775986881
|
0.00001
|
|
NM_024334.3(TMEM43):c.530C>T (p.Ser177Leu)
|
rs1167948235
|
0.00001
|
|
NM_024334.3(TMEM43):c.592G>A (p.Asp198Asn)
|
rs1383512011
|
0.00001
|
|
NM_024334.3(TMEM43):c.646G>A (p.Val216Met)
|
rs143735210
|
0.00001
|
|
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys)
|
rs562700595
|
0.00001
|
|
NM_024334.3(TMEM43):c.659G>A (p.Arg220His)
|
rs570836197
|
0.00001
|
|
NM_024334.3(TMEM43):c.65dup (p.Pro23fs)
|
rs1300909566
|
0.00001
|
|
NM_024334.3(TMEM43):c.662G>A (p.Arg221His)
|
rs774735646
|
0.00001
|
|
NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg)
|
rs746183974
|
0.00001
|
|
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser)
|
rs374202326
|
0.00001
|
|
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala)
|
rs751419150
|
0.00001
|
|
NM_024334.3(TMEM43):c.705+5G>T
|
rs754716462
|
0.00001
|
|
NM_024334.3(TMEM43):c.706-3C>T
|
rs1212663056
|
0.00001
|
|
NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys)
|
rs150478052
|
0.00001
|
|
NM_024334.3(TMEM43):c.751G>A (p.Asp251Asn)
|
rs375481688
|
0.00001
|
|
NM_024334.3(TMEM43):c.763C>T (p.Leu255=)
|
rs761968722
|
0.00001
|
|
NM_024334.3(TMEM43):c.768C>A (p.Gly256=)
|
rs955293392
|
0.00001
|
|
NM_024334.3(TMEM43):c.781-13G>T
|
rs202207425
|
0.00001
|
|
NM_024334.3(TMEM43):c.781-3C>T
|
rs780142044
|
0.00001
|
|
NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu)
|
rs769969149
|
0.00001
|
|
NM_024334.3(TMEM43):c.831C>T (p.Thr277=)
|
rs758007704
|
0.00001
|
|
NM_024334.3(TMEM43):c.834G>A (p.Lys278=)
|
rs151009158
|
0.00001
|
|
NM_024334.3(TMEM43):c.855C>G (p.Leu285=)
|
rs1337055313
|
0.00001
|
|
NM_024334.3(TMEM43):c.859C>T (p.His287Tyr)
|
rs780299346
|
0.00001
|
|
NM_024334.3(TMEM43):c.893A>G (p.His298Arg)
|
rs1285837389
|
0.00001
|
|
NM_024334.3(TMEM43):c.900A>G (p.Glu300=)
|
rs758427713
|
0.00001
|
|
NM_024334.3(TMEM43):c.935G>A (p.Arg312Gln)
|
rs201543634
|
0.00001
|
|
NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro)
|
rs1431861933
|
0.00001
|
|
NM_024334.3(TMEM43):c.959T>G (p.Phe320Cys)
|
rs886787374
|
0.00001
|
|
NM_024334.3(TMEM43):c.961A>G (p.Met321Val)
|
rs397517387
|
0.00001
|
|
NM_024334.3(TMEM43):c.982C>T (p.Arg328Trp)
|
rs561883271
|
0.00001
|
|
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln)
|
rs185611706
|
0.00001
|
|
NM_024334.3(TMEM43):c.993C>T (p.Tyr331=)
|
rs755042745
|
0.00001
|
|
NM_024334.3(TMEM43):c.99G>A (p.Ser33=)
|
rs147710692
|
0.00001
|
|
NM_024422.6(DSC2):c.-12C>G
|
rs954770780
|
0.00001
|
|
NM_024422.6(DSC2):c.1024A>G (p.Ile342Val)
|
rs746745677
|
0.00001
|
|
NM_024422.6(DSC2):c.1039G>T (p.Asp347Tyr)
|
rs1214725211
|
0.00001
|
|
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr)
|
rs766413086
|
0.00001
|
|
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr)
|
rs999869714
|
0.00001
|
|
NM_024422.6(DSC2):c.1081G>A (p.Val361Met)
|
rs751810874
|
0.00001
|
|
NM_024422.6(DSC2):c.1131T>G (p.Thr377=)
|
rs772815380
|
0.00001
|
|
NM_024422.6(DSC2):c.1172C>A (p.Ala391Asp)
|
rs1300215880
|
0.00001
|
|
NM_024422.6(DSC2):c.1309G>C (p.Val437Leu)
|
rs775579662
|
0.00001
|
|
NM_024422.6(DSC2):c.1315A>G (p.Asn439Asp)
|
rs148712725
|
0.00001
|
|
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr)
|
rs1467311353
|
0.00001
|
|
NM_024422.6(DSC2):c.1347A>G (p.Pro449=)
|
rs1157738158
|
0.00001
|
|
NM_024422.6(DSC2):c.1399G>C (p.Glu467Gln)
|
rs1208470556
|
0.00001
|
|
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu)
|
rs776398212
|
0.00001
|
|
NM_024422.6(DSC2):c.1435C>T (p.Arg479Cys)
|
rs138761522
|
0.00001
|
|
NM_024422.6(DSC2):c.1438A>C (p.Met480Leu)
|
rs370616107
|
0.00001
|
|
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn)
|
rs780446276
|
0.00001
|
|
NM_024422.6(DSC2):c.146T>C (p.Val49Ala)
|
rs1275514075
|
0.00001
|
|
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu)
|
rs899009158
|
0.00001
|
|
NM_024422.6(DSC2):c.1506T>A (p.Ser502Arg)
|
rs756803622
|
0.00001
|
|
NM_024422.6(DSC2):c.1521-5A>G
|
rs397517392
|
0.00001
|
|
NM_024422.6(DSC2):c.153A>G (p.Arg51=)
|
rs781424888
|
0.00001
|
|
NM_024422.6(DSC2):c.154+6G>A
|
rs778131915
|
0.00001
|
|
NM_024422.6(DSC2):c.1547G>A (p.Gly516Glu)
|
rs1402893994
|
0.00001
|
|
NM_024422.6(DSC2):c.155-3C>T
|
rs745988877
|
0.00001
|
|
NM_024422.6(DSC2):c.1560T>C (p.Ile520=)
|
rs1193943164
|
0.00001
|
|
NM_024422.6(DSC2):c.1568A>G (p.Asn523Ser)
|
rs766187198
|
0.00001
|
|
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val)
|
rs756058875
|
0.00001
|
|
NM_024422.6(DSC2):c.1581C>G (p.Ile527Met)
|
rs750329563
|
0.00001
|
|
NM_024422.6(DSC2):c.159C>T (p.Asn53=)
|
rs952701114
|
0.00001
|
|
NM_024422.6(DSC2):c.1627G>A (p.Gly543Ser)
|
rs1418248949
|
0.00001
|
|
NM_024422.6(DSC2):c.1628G>A (p.Gly543Asp)
|
rs977709312
|
0.00001
|
|
NM_024422.6(DSC2):c.1634A>G (p.Tyr545Cys)
|
rs776917359
|
0.00001
|
|
NM_024422.6(DSC2):c.1663G>A (p.Gly555Arg)
|
rs1598580423
|
0.00001
|
|
NM_024422.6(DSC2):c.1679C>T (p.Thr560Met)
|
rs772775522
|
0.00001
|
|
NM_024422.6(DSC2):c.1693A>G (p.Ile565Val)
|
rs780712159
|
0.00001
|
|
NM_024422.6(DSC2):c.1697T>C (p.Ile566Thr)
|
rs1399123480
|
0.00001
|
|
NM_024422.6(DSC2):c.1712A>G (p.Asn571Ser)
|
rs1462605063
|
0.00001
|
|
NM_024422.6(DSC2):c.1759C>A (p.Pro587Thr)
|
rs766561610
|
0.00001
|
|
NM_024422.6(DSC2):c.1760C>T (p.Pro587Leu)
|
rs761123301
|
0.00001
|
|
NM_024422.6(DSC2):c.1783G>A (p.Val595Ile)
|
rs1447974524
|
0.00001
|
|
NM_024422.6(DSC2):c.1796C>G (p.Pro599Arg)
|
rs377384219
|
0.00001
|
|
NM_024422.6(DSC2):c.1803G>A (p.Glu601=)
|
rs1288832288
|
0.00001
|
|
NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys)
|
rs758990451
|
0.00001
|
|
NM_024422.6(DSC2):c.1971C>A (p.Gly657=)
|
rs397517396
|
0.00001
|
|
NM_024422.6(DSC2):c.1981G>A (p.Val661Ile)
|
rs781419827
|
0.00001
|
|
NM_024422.6(DSC2):c.2039G>T (p.Arg680Leu)
|
rs374002111
|
0.00001
|
|
NM_024422.6(DSC2):c.2073A>G (p.Gln691=)
|
rs776903280
|
0.00001
|
|
NM_024422.6(DSC2):c.2104T>C (p.Leu702=)
|
rs753742489
|
0.00001
|
|
NM_024422.6(DSC2):c.2126-11T>C
|
rs1283105269
|
0.00001
|
|
NM_024422.6(DSC2):c.2158G>C (p.Gly720Arg)
|
rs1170934513
|
0.00001
|
|
NM_024422.6(DSC2):c.2206A>G (p.Asn736Asp)
|
rs371950232
|
0.00001
|
|
NM_024422.6(DSC2):c.2231C>T (p.Ala744Val)
|
rs758269321
|
0.00001
|
|
NM_024422.6(DSC2):c.2244C>T (p.Asp748=)
|
rs886039103
|
0.00001
|
|
NM_024422.6(DSC2):c.2256T>C (p.Ser752=)
|
rs1369056367
|
0.00001
|
|
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val)
|
rs1217851416
|
0.00001
|
|
NM_024422.6(DSC2):c.2300G>A (p.Gly767Glu)
|
rs772898155
|
0.00001
|
|
NM_024422.6(DSC2):c.2313C>T (p.Thr771=)
|
rs778571921
|
0.00001
|
|
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala)
|
rs749174176
|
0.00001
|
|
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met)
|
rs1789054
|
0.00001
|
|
NM_024422.6(DSC2):c.2342A>G (p.Gln781Arg)
|
rs1244664122
|
0.00001
|
|
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys)
|
rs752873618
|
0.00001
|
|
NM_024422.6(DSC2):c.2354A>G (p.Glu785Gly)
|
rs769747496
|
0.00001
|
|
NM_024422.6(DSC2):c.2357T>C (p.Met786Thr)
|
rs397517398
|
0.00001
|
|
NM_024422.6(DSC2):c.2368G>A (p.Gly790Arg)
|
rs1335955296
|
0.00001
|
|
NM_024422.6(DSC2):c.2370A>G (p.Gly790=)
|
rs761302953
|
0.00001
|
|
NM_024422.6(DSC2):c.2379C>A (p.Thr793=)
|
rs773813155
|
0.00001
|
|
NM_024422.6(DSC2):c.237C>T (p.Val79=)
|
rs1002646457
|
0.00001
|
|
NM_024422.6(DSC2):c.2382G>A (p.Ser794=)
|
rs761322462
|
0.00001
|
|
NM_024422.6(DSC2):c.2391C>T (p.Cys797=)
|
rs544366164
|
0.00001
|
|
NM_024422.6(DSC2):c.2403C>T (p.Gly801=)
|
rs1261715763
|
0.00001
|
|
NM_024422.6(DSC2):c.2419G>C (p.Asp807His)
|
rs748323101
|
0.00001
|
|
NM_024422.6(DSC2):c.2430G>A (p.Arg810=)
|
rs755276378
|
0.00001
|
|
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met)
|
rs756497616
|
0.00001
|
|
NM_024422.6(DSC2):c.2452A>G (p.Asn818Asp)
|
rs1454999415
|
0.00001
|
|
NM_024422.6(DSC2):c.2472G>A (p.Ser824=)
|
rs374348925
|
0.00001
|
|
NM_024422.6(DSC2):c.2509-116A>G
|
rs746058773
|
0.00001
|
|
NM_024422.6(DSC2):c.2512G>A (p.Val838Met)
|
rs1986695514
|
0.00001
|
|
NM_024422.6(DSC2):c.2597C>G (p.Ala866Gly)
|
rs760363798
|
0.00001
|
|
NM_024422.6(DSC2):c.2610T>C (p.Gly870=)
|
rs761875347
|
0.00001
|
|
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter)
|
rs727504823
|
0.00001
|
|
NM_024422.6(DSC2):c.2626C>G (p.Gln876Glu)
|
rs727504906
|
0.00001
|
|
NM_024422.6(DSC2):c.2692T>C (p.Cys898Arg)
|
rs1027240725
|
0.00001
|
|
NM_024422.6(DSC2):c.2694C>A (p.Cys898Ter)
|
rs1986684188
|
0.00001
|
|
NM_024422.6(DSC2):c.26C>G (p.Ser9Cys)
|
rs794728064
|
0.00001
|
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
|
NM_024422.6(DSC2):c.336T>C (p.Phe112=)
|
rs780747903
|
0.00001
|
|
NM_024422.6(DSC2):c.354+6C>T
|
rs1987618823
|
0.00001
|
|
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn)
|
rs762877422
|
0.00001
|
|
NM_024422.6(DSC2):c.373A>G (p.Thr125Ala)
|
rs369061469
|
0.00001
|
|
NM_024422.6(DSC2):c.396C>T (p.Arg132=)
|
rs773053517
|
0.00001
|
|
NM_024422.6(DSC2):c.412G>A (p.Ala138Thr)
|
rs1405349273
|
0.00001
|
|
NM_024422.6(DSC2):c.429G>A (p.Ser143=)
|
rs542638302
|
0.00001
|
|
NM_024422.6(DSC2):c.474+5C>T
|
rs397517400
|
0.00001
|
|
NM_024422.6(DSC2):c.474+6G>A
|
rs764362617
|
0.00001
|
|
NM_024422.6(DSC2):c.47G>A (p.Arg16Gln)
|
rs869025386
|
0.00001
|
|
NM_024422.6(DSC2):c.488C>T (p.Thr163Met)
|
rs758759298
|
0.00001
|
|
NM_024422.6(DSC2):c.48G>A (p.Arg16=)
|
rs1327911404
|
0.00001
|
|
NM_024422.6(DSC2):c.509A>G (p.Tyr170Cys)
|
rs759910399
|
0.00001
|
|
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu)
|
rs766855728
|
0.00001
|
|
NM_024422.6(DSC2):c.561T>C (p.Tyr187=)
|
rs749063028
|
0.00001
|
|
NM_024422.6(DSC2):c.587A>G (p.Tyr196Cys)
|
rs1987518387
|
0.00001
|
|
NM_024422.6(DSC2):c.608G>A (p.Arg203His)
|
rs758527425
|
0.00001
|
|
NM_024422.6(DSC2):c.60G>A (p.Leu20=)
|
rs1201166808
|
0.00001
|
|
NM_024422.6(DSC2):c.617A>G (p.Tyr206Cys)
|
rs753004247
|
0.00001
|
|
NM_024422.6(DSC2):c.627T>C (p.Phe209=)
|
rs754168300
|
0.00001
|
|
NM_024422.6(DSC2):c.62C>A (p.Thr21Asn)
|
rs931909783
|
0.00001
|
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
|
NM_024422.6(DSC2):c.638C>T (p.Ala213Val)
|
rs1299475740
|
0.00001
|
|
NM_024422.6(DSC2):c.662A>G (p.Tyr221Cys)
|
rs1265924444
|
0.00001
|
|
NM_024422.6(DSC2):c.687A>G (p.Leu229=)
|
rs371192108
|
0.00001
|
|
NM_024422.6(DSC2):c.69+1G>A
|
rs1245669690
|
0.00001
|
|
NM_024422.6(DSC2):c.70-9A>G
|
rs752022380
|
0.00001
|
|
NM_024422.6(DSC2):c.70A>G (p.Ile24Val)
|
rs1228372400
|
0.00001
|
|
NM_024422.6(DSC2):c.717C>T (p.Asn239=)
|
rs768598370
|
0.00001
|
|
NM_024422.6(DSC2):c.740C>A (p.Thr247Asn)
|
rs1171077859
|
0.00001
|
|
NM_024422.6(DSC2):c.769A>G (p.Arg257Gly)
|
rs1253861748
|
0.00001
|
|
NM_024422.6(DSC2):c.777C>T (p.Gly259=)
|
rs565694087
|
0.00001
|
|
NM_024422.6(DSC2):c.825G>A (p.Thr275=)
|
rs767301887
|
0.00001
|
|
NM_024422.6(DSC2):c.836G>A (p.Arg279His)
|
rs775614779
|
0.00001
|
|
NM_024422.6(DSC2):c.872C>T (p.Ser291Leu)
|
rs755952123
|
0.00001
|
|
NM_024422.6(DSC2):c.880C>A (p.Leu294Ile)
|
rs761796202
|
0.00001
|
|
NM_024422.6(DSC2):c.893A>T (p.His298Leu)
|
rs397517407
|
0.00001
|
|
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala)
|
rs576466497
|
0.00001
|
|
NM_024422.6(DSC2):c.975A>G (p.Val325=)
|
rs1411764092
|
0.00001
|
|
NM_170707.4(LMNA):c.-4G>A
|
rs1205781706
|
0.00001
|
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223
|
0.00001
|
|
NM_170707.4(LMNA):c.1092C>T (p.Asp364=)
|
rs776589077
|
0.00001
|
|
NM_170707.4(LMNA):c.111G>A (p.Glu37=)
|
rs886038906
|
0.00001
|
|
NM_170707.4(LMNA):c.1155G>A (p.Glu385=)
|
rs878855232
|
0.00001
|
|
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)
|
rs58672172
|
0.00001
|
|
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys)
|
rs727504852
|
0.00001
|
|
NM_170707.4(LMNA):c.1234G>C (p.Gly412Arg)
|
rs966050612
|
0.00001
|
|
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)
|
rs267607564
|
0.00001
|
|
NM_170707.4(LMNA):c.1270A>G (p.Thr424Ala)
|
rs1166140426
|
0.00001
|
|
NM_170707.4(LMNA):c.12G>A (p.Pro4=)
|
rs369823958
|
0.00001
|
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
|
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala)
|
rs876657849
|
0.00001
|
|
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)
|
rs62636506
|
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.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.1583C>T (p.Thr528Met)
|
rs57629361
|
0.00001
|
|
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)
|
rs144740174
|
0.00001
|
|
NM_170707.4(LMNA):c.1604G>A (p.Gly535Glu)
|
rs747717293
|
0.00001
|
|
NM_170707.4(LMNA):c.1605G>A (p.Gly535=)
|
rs769398087
|
0.00001
|
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
|
NM_170707.4(LMNA):c.1645G>A (p.Val549Met)
|
rs781774834
|
0.00001
|
|
NM_170707.4(LMNA):c.1660G>A (p.Glu554Lys)
|
rs71630616
|
0.00001
|
|
NM_170707.4(LMNA):c.1662G>A (p.Glu554=)
|
rs201936898
|
0.00001
|
|
NM_170707.4(LMNA):c.1680C>T (p.Asp560=)
|
rs17847249
|
0.00001
|
|
NM_170707.4(LMNA):c.1699-4C>T
|
rs1394491459
|
0.00001
|
|
NM_170707.4(LMNA):c.1699-8C>G
|
rs727503137
|
0.00001
|
|
NM_170707.4(LMNA):c.1699-9C>T
|
rs776616872
|
0.00001
|
|
NM_170707.4(LMNA):c.1728C>T (p.Pro576=)
|
rs767783294
|
0.00001
|
|
NM_170707.4(LMNA):c.1729G>A (p.Ala577Thr)
|
rs1439261714
|
0.00001
|
|
NM_170707.4(LMNA):c.1731T>C (p.Ala577=)
|
rs776066211
|
0.00001
|
|
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)
|
rs57830985
|
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.1765G>A (p.Gly589Arg)
|
rs372201662
|
0.00001
|
|
NM_170707.4(LMNA):c.1773C>T (p.Cys591=)
|
rs397517897
|
0.00001
|
|
NM_170707.4(LMNA):c.1785C>T (p.Ala595=)
|
rs748139390
|
0.00001
|
|
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)
|
rs769561386
|
0.00001
|
|
NM_170707.4(LMNA):c.1822G>T (p.Gly608Cys)
|
rs61064130
|
0.00001
|
|
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg)
|
rs397517898
|
0.00001
|
|
NM_170707.4(LMNA):c.1863G>A (p.Thr621=)
|
rs749999967
|
0.00001
|
|
NM_170707.4(LMNA):c.1867A>G (p.Thr623Ala)
|
rs757888891
|
0.00001
|
|
NM_170707.4(LMNA):c.1871G>A (p.Arg624His)
|
rs13768
|
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.1961G>A (p.Arg654Gln)
|
rs768986279
|
0.00001
|
|
NM_170707.4(LMNA):c.1969-4T>C
|
rs751715969
|
0.00001
|
|
NM_170707.4(LMNA):c.20G>A (p.Arg7Gln)
|
rs751916168
|
0.00001
|
|
NM_170707.4(LMNA):c.215G>A (p.Arg72His)
|
rs727504340
|
0.00001
|
|
NM_170707.4(LMNA):c.23G>A (p.Arg8His)
|
rs1329278578
|
0.00001
|
|
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly)
|
rs1441670218
|
0.00001
|
|
NM_170707.4(LMNA):c.328C>A (p.Arg110Ser)
|
rs1064797121
|
0.00001
|
|
NM_170707.4(LMNA):c.357-13C>A
|
rs1264489096
|
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.42G>A (p.Ala14=)
|
rs777460187
|
0.00001
|
|
NM_170707.4(LMNA):c.480C>A (p.Gly160=)
|
rs758848135
|
0.00001
|
|
NM_170707.4(LMNA):c.480C>T (p.Gly160=)
|
rs758848135
|
0.00001
|
|
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)
|
rs370200334
|
0.00001
|
|
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)
|
rs267607626
|
0.00001
|
|
NM_170707.4(LMNA):c.606G>A (p.Glu202=)
|
rs963378138
|
0.00001
|
|
NM_170707.4(LMNA):c.640-11A>C
|
rs727504932
|
0.00001
|
|
NM_170707.4(LMNA):c.640-8C>G
|
rs1265858848
|
0.00001
|
|
NM_170707.4(LMNA):c.643C>T (p.Leu215=)
|
rs397517905
|
0.00001
|
|
NM_170707.4(LMNA):c.659G>A (p.Arg220His)
|
rs780066296
|
0.00001
|
|
NM_170707.4(LMNA):c.660C>T (p.Arg220=)
|
rs1225454840
|
0.00001
|
|
NM_170707.4(LMNA):c.678G>A (p.Leu226=)
|
rs964377328
|
0.00001
|
|
NM_170707.4(LMNA):c.704G>A (p.Arg235His)
|
rs759829161
|
0.00001
|
|
NM_170707.4(LMNA):c.732G>A (p.Ala244=)
|
rs756952925
|
0.00001
|
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
|
NM_170707.4(LMNA):c.870G>A (p.Glu290=)
|
rs747275587
|
0.00001
|
|
NM_170707.4(LMNA):c.93G>A (p.Glu31=)
|
rs878855235
|
0.00001
|
|
NM_170707.4(LMNA):c.948G>A (p.Lys316=)
|
rs778421025
|
0.00001
|
|
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr)
|
rs267607574
|
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.991C>T (p.Arg331Trp)
|
rs879253898
|
0.00001
|
|
MYH11:c.503-14_503-12del
|
rs141564071
|
|
|
NM_000090.4(COL3A1):c.*3C>A
|
rs1383823798
|
|
|
NM_000090.4(COL3A1):c.1003C>T (p.Pro335Ser)
|
rs757785982
|
|
|
NM_000090.4(COL3A1):c.1009C>T (p.Pro337Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1010C>T (p.Pro337Leu)
|
rs1688217484
|
|
|
NM_000090.4(COL3A1):c.1032T>G (p.Pro344=)
|
rs1688218162
|
|
|
NM_000090.4(COL3A1):c.1043G>C (p.Gly348Ala)
|
rs1688218490
|
|
|
NM_000090.4(COL3A1):c.1050+3A>G
|
|
|
|
NM_000090.4(COL3A1):c.1057G>A (p.Val353Ile)
|
rs1688228735
|
|
|
NM_000090.4(COL3A1):c.1073C>A (p.Ser358Tyr)
|
rs2153502278
|
|
|
NM_000090.4(COL3A1):c.1077T>C (p.Pro359=)
|
rs1688229266
|
|
|
NM_000090.4(COL3A1):c.1090G>T (p.Ala364Ser)
|
rs867793469
|
|
|
NM_000090.4(COL3A1):c.1091C>T (p.Ala364Val)
|
|
|
|
NM_000090.4(COL3A1):c.1094C>G (p.Pro365Arg)
|
rs1464219199
|
|
|
NM_000090.4(COL3A1):c.1102A>G (p.Arg368Gly)
|
rs2153502282
|
|
|
NM_000090.4(COL3A1):c.1118C>T (p.Pro373Leu)
|
rs1688230677
|
|
|
NM_000090.4(COL3A1):c.1125A>T (p.Gly375=)
|
rs1688230841
|
|
|
NM_000090.4(COL3A1):c.1146T>C (p.Pro382=)
|
rs2153502287
|
|
|
NM_000090.4(COL3A1):c.1149+6T>C
|
|
|
|
NM_000090.4(COL3A1):c.1150-7T>C
|
rs1688243474
|
|
|
NM_000090.4(COL3A1):c.1152C>T (p.Gly384=)
|
rs1688243975
|
|
|
NM_000090.4(COL3A1):c.1195-3T>G
|
rs1688248649
|
|
|
NM_000090.4(COL3A1):c.1195-6T>C
|
rs1688248520
|
|
|
NM_000090.4(COL3A1):c.1195-9T>C
|
|
|
|
NM_000090.4(COL3A1):c.1198C>T (p.Pro400Ser)
|
rs1229093142
|
|
|
NM_000090.4(COL3A1):c.119C>G (p.Ala40Gly)
|
rs201380807
|
|
|
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)
|
rs201380807
|
|
|
NM_000090.4(COL3A1):c.1201G>C (p.Ala401Pro)
|
rs373858715
|
|
|
NM_000090.4(COL3A1):c.1216G>C (p.Ala406Pro)
|
rs1283408710
|
|
|
NM_000090.4(COL3A1):c.121G>A (p.Asp41Asn)
|
rs794728035
|
|
|
NM_000090.4(COL3A1):c.1225C>G (p.Leu409Val)
|
rs1026603456
|
|
|
NM_000090.4(COL3A1):c.1229T>C (p.Met410Thr)
|
rs1369779639
|
|
|
NM_000090.4(COL3A1):c.1230G>T (p.Met410Ile)
|
rs2153502373
|
|
|
NM_000090.4(COL3A1):c.123T>C (p.Asp41=)
|
rs770961095
|
|
|
NM_000090.4(COL3A1):c.1264A>G (p.Asn422Asp)
|
rs1688252085
|
|
|
NM_000090.4(COL3A1):c.1265A>G (p.Asn422Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1275T>A (p.Pro425=)
|
rs1479463446
|
|
|
NM_000090.4(COL3A1):c.1281G>A (p.Leu427=)
|
rs750476636
|
|
|
NM_000090.4(COL3A1):c.1294-3T>C
|
rs587779496
|
|
|
NM_000090.4(COL3A1):c.1294-6C>T
|
rs1056924348
|
|
|
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys)
|
rs150670470
|
|
|
NM_000090.4(COL3A1):c.1329C>T (p.Pro443=)
|
rs527291598
|
|
|
NM_000090.4(COL3A1):c.1335A>G (p.Pro445=)
|
rs1193108024
|
|
|
NM_000090.4(COL3A1):c.1337G>A (p.Arg446His)
|
rs149852181
|
|
|
NM_000090.4(COL3A1):c.1347+1G>A
|
rs397509370
|
|
|
NM_000090.4(COL3A1):c.1348-11T>C
|
rs1334349221
|
|
|
NM_000090.4(COL3A1):c.1359T>C (p.Gly453=)
|
rs1232746183
|
|
|
NM_000090.4(COL3A1):c.1383_1384delinsTA (p.Lys461_Gly462delinsAsnSer)
|
rs2153502437
|
|
|
NM_000090.4(COL3A1):c.1387G>A (p.Glu463Lys)
|
rs2153502439
|
|
|
NM_000090.4(COL3A1):c.1401T>C (p.Asp467=)
|
|
|
|
NM_000090.4(COL3A1):c.1442C>G (p.Ala481Gly)
|
rs1688268227
|
|
|
NM_000090.4(COL3A1):c.1455+4C>A
|
|
|
|
NM_000090.4(COL3A1):c.1456-15T>G
|
rs1688273707
|
|
|
NM_000090.4(COL3A1):c.1460C>T (p.Ala487Val)
|
|
|
|
NM_000090.4(COL3A1):c.1461C>T (p.Ala487=)
|
rs747522483
|
|
|
NM_000090.4(COL3A1):c.1472G>C (p.Arg491Pro)
|
|
|
|
NM_000090.4(COL3A1):c.1480G>T (p.Ala494Ser)
|
rs200866608
|
|
|
NM_000090.4(COL3A1):c.1494C>A (p.Gly498=)
|
rs1688275346
|
|
|
NM_000090.4(COL3A1):c.1507A>G (p.Lys503Glu)
|
rs1688275818
|
|
|
NM_000090.4(COL3A1):c.1508A>T (p.Lys503Met)
|
|
|
|
NM_000090.4(COL3A1):c.1509+5A>G
|
rs572863064
|
|
|
NM_000090.4(COL3A1):c.1509+7_1509+21del
|
rs781662866
|
|
|
NM_000090.4(COL3A1):c.1510-10C>T
|
|
|
|
NM_000090.4(COL3A1):c.1513C>G (p.Pro505Ala)
|
rs776430998
|
|
|
NM_000090.4(COL3A1):c.1517C>T (p.Ala506Val)
|
|
|
|
NM_000090.4(COL3A1):c.1531G>A (p.Ala511Thr)
|
rs926106259
|
|
|
NM_000090.4(COL3A1):c.1536A>C (p.Pro512=)
|
rs975159988
|
|
|
NM_000090.4(COL3A1):c.1543G>A (p.Ala515Thr)
|
rs937534609
|
|
|
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg)
|
rs142085247
|
|
|
NM_000090.4(COL3A1):c.1570C>T (p.Pro524Ser)
|
rs1688292530
|
|
|
NM_000090.4(COL3A1):c.1580A>G (p.Asp527Gly)
|
rs1688292723
|
|
|
NM_000090.4(COL3A1):c.1590T>A (p.Pro530=)
|
rs1688293277
|
|
|
NM_000090.4(COL3A1):c.1590T>C (p.Pro530=)
|
rs1688293277
|
|
|
NM_000090.4(COL3A1):c.1609-10T>C
|
rs762824449
|
|
|
NM_000090.4(COL3A1):c.1609-4T>G
|
rs1688303812
|
|
|
NM_000090.4(COL3A1):c.1609G>A (p.Gly537Ser)
|
rs1688304002
|
|
|
NM_000090.4(COL3A1):c.1612A>G (p.Met538Val)
|
rs2153502614
|
|
|
NM_000090.4(COL3A1):c.1622G>C (p.Ser541Thr)
|
|
|
|
NM_000090.4(COL3A1):c.1643A>T (p.Asp548Val)
|
|
|
|
NM_000090.4(COL3A1):c.1652C>G (p.Pro551Arg)
|
rs868705044
|
|
|
NM_000090.4(COL3A1):c.1652C>T (p.Pro551Leu)
|
rs868705044
|
|
|
NM_000090.4(COL3A1):c.1656G>T (p.Gly552=)
|
|
|
|
NM_000090.4(COL3A1):c.1660C>G (p.Pro554Ala)
|
rs1334678815
|
|
|
NM_000090.4(COL3A1):c.1662+4T>C
|
rs1319321003
|
|
|
NM_000090.4(COL3A1):c.1662+4T>G
|
rs1319321003
|
|
|
NM_000090.4(COL3A1):c.1662+6T>C
|
rs2153502633
|
|
|
NM_000090.4(COL3A1):c.1663-9T>G
|
|
|
|
NM_000090.4(COL3A1):c.1663-9del
|
rs770372880
|
|
|
NM_000090.4(COL3A1):c.1665A>T (p.Gly555=)
|
rs1688319376
|
|
|
NM_000090.4(COL3A1):c.1667G>A (p.Ser556Asn)
|
rs1688319466
|
|
|
NM_000090.4(COL3A1):c.1675G>A (p.Glu559Lys)
|
|
|
|
NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter)
|
rs375737772
|
|
|
NM_000090.4(COL3A1):c.1712C>A (p.Pro571His)
|
rs1688321100
|
|
|
NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)
|
|
|
|
NM_000090.4(COL3A1):c.1723C>T (p.Pro575Ser)
|
rs1688321435
|
|
|
NM_000090.4(COL3A1):c.1729G>A (p.Val577Ile)
|
rs1688321543
|
|
|
NM_000090.4(COL3A1):c.1762-11T>G
|
rs761637298
|
|
|
NM_000090.4(COL3A1):c.1762-13A>G
|
rs776161087
|
|
|
NM_000090.4(COL3A1):c.1765G>A (p.Ala589Thr)
|
rs1327158014
|
|
|
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu)
|
rs1039226542
|
|
|
NM_000090.4(COL3A1):c.1836T>C (p.Gly612=)
|
rs1576467117
|
|
|
NM_000090.4(COL3A1):c.1850A>G (p.Gln617Arg)
|
rs1430358032
|
|
|
NM_000090.4(COL3A1):c.1855C>A (p.Pro619Thr)
|
rs780889214
|
|
|
NM_000090.4(COL3A1):c.1855C>T (p.Pro619Ser)
|
rs780889214
|
|
|
NM_000090.4(COL3A1):c.1856C>G (p.Pro619Arg)
|
|
|
|
NM_000090.4(COL3A1):c.1870-12A>G
|
rs1231508385
|
|
|
NM_000090.4(COL3A1):c.1870-13_1870-11del
|
rs1312775368
|
|
|
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys)
|
rs769039976
|
|
|
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser)
|
rs762129273
|
|
|
NM_000090.4(COL3A1):c.1919T>C (p.Leu640Ser)
|
rs2153502847
|
|
|
NM_000090.4(COL3A1):c.1923+3A>G
|
rs1214796107
|
|
|
NM_000090.4(COL3A1):c.1924-14A>G
|
|
|
|
NM_000090.4(COL3A1):c.1924-5T>C
|
rs1336001254
|
|
|
NM_000090.4(COL3A1):c.193A>G (p.Ile65Val)
|
rs1440480352
|
|
|
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu)
|
rs2153501357
|
|
|
NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr)
|
rs1064796979
|
|
|
NM_000090.4(COL3A1):c.1975C>T (p.Pro659Ser)
|
|
|
|
NM_000090.4(COL3A1):c.1976C>G (p.Pro659Arg)
|
rs756822808
|
|
|
NM_000090.4(COL3A1):c.1978-25_1978-11del
|
rs2153502936
|
|
|
NM_000090.4(COL3A1):c.1978-6T>C
|
|
|
|
NM_000090.4(COL3A1):c.1986G>T (p.Lys662Asn)
|
rs1443558947
|
|
|
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr)
|
rs1801183
|
|
|
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser)
|
rs1801183
|
|
|
NM_000090.4(COL3A1):c.2003C>T (p.Pro668Leu)
|
rs1576467905
|
|
|
NM_000090.4(COL3A1):c.2023-12T>C
|
rs1214309645
|
|
|
NM_000090.4(COL3A1):c.2023-3C>T
|
|
|
|
NM_000090.4(COL3A1):c.2023-4A>T
|
rs749995320
|
|
|
NM_000090.4(COL3A1):c.204C>A (p.Asp68Glu)
|
rs368299739
|
|
|
NM_000090.4(COL3A1):c.205G>T (p.Asp69Tyr)
|
rs112714742
|
|
|
NM_000090.4(COL3A1):c.2065G>T (p.Ala689Ser)
|
rs886055331
|
|
|
NM_000090.4(COL3A1):c.2072C>T (p.Ala691Val)
|
rs199851835
|
|
|
NM_000090.4(COL3A1):c.2098C>T (p.Pro700Ser)
|
rs1261828944
|
|
|
NM_000090.4(COL3A1):c.209A>G (p.Gln70Arg)
|
rs2153501359
|
|
|
NM_000090.4(COL3A1):c.2107C>T (p.Pro703Ser)
|
rs780123051
|
|
|
NM_000090.4(COL3A1):c.2117G>A (p.Gly706Glu)
|
rs1688402397
|
|
|
NM_000090.4(COL3A1):c.2122-5T>C
|
rs2153503017
|
|
|
NM_000090.4(COL3A1):c.2134C>T (p.Pro712Ser)
|
rs1576468303
|
|
|
NM_000090.4(COL3A1):c.2135C>T (p.Pro712Leu)
|
rs780028064
|
|
|
NM_000090.4(COL3A1):c.2136T>A (p.Pro712=)
|
rs2153503024
|
|
|
NM_000090.4(COL3A1):c.2152_2153delinsTT (p.Ala718Phe)
|
rs2153503026
|
|
|
NM_000090.4(COL3A1):c.216A>G (p.Leu72=)
|
rs1688032482
|
|
|
NM_000090.4(COL3A1):c.222C>T (p.Cys74=)
|
rs1688032683
|
|
|
NM_000090.4(COL3A1):c.2230-5G>A
|
rs74458631
|
|
|
NM_000090.4(COL3A1):c.2230-7T>C
|
rs1688417043
|
|
|
NM_000090.4(COL3A1):c.2236C>A (p.Pro746Thr)
|
rs1688417443
|
|
|
NM_000090.4(COL3A1):c.2248G>C (p.Gly750Arg)
|
rs1688418367
|
|
|
NM_000090.4(COL3A1):c.2256T>C (p.Asp752=)
|
rs1688418542
|
|
|
NM_000090.4(COL3A1):c.2259_2260delinsGA (p.Val754Ile)
|
rs2153503068
|
|
|
NM_000090.4(COL3A1):c.2284-13T>G
|
|
|
|
NM_000090.4(COL3A1):c.229C>T (p.Pro77Ser)
|
rs1688032952
|
|
|
NM_000090.4(COL3A1):c.2301T>C (p.Ile767=)
|
rs1559059510
|
|
|
NM_000090.4(COL3A1):c.2308C>T (p.Pro770Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2318C>G (p.Ala773Gly)
|
rs2153503231
|
|
|
NM_000090.4(COL3A1):c.2338-7T>C
|
rs1688463217
|
|
|
NM_000090.4(COL3A1):c.2344G>A (p.Gly782Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2353C>T (p.Pro785Ser)
|
rs1688463875
|
|
|
NM_000090.4(COL3A1):c.2355C>A (p.Pro785=)
|
rs148901664
|
|
|
NM_000090.4(COL3A1):c.2355C>G (p.Pro785=)
|
rs148901664
|
|
|
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg)
|
rs113485686
|
|
|
NM_000090.4(COL3A1):c.235A>G (p.Ile79Val)
|
rs779214140
|
|
|
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=)
|
rs886055332
|
|
|
NM_000090.4(COL3A1):c.2371G>T (p.Ala791Ser)
|
rs1438663630
|
|
|
NM_000090.4(COL3A1):c.2372C>T (p.Ala791Val)
|
|
|
|
NM_000090.4(COL3A1):c.2373T>C (p.Ala791=)
|
rs200452382
|
|
|
NM_000090.4(COL3A1):c.2387G>T (p.Ser796Ile)
|
|
|
|
NM_000090.4(COL3A1):c.2391T>C (p.Pro797=)
|
rs1688465341
|
|
|
NM_000090.4(COL3A1):c.2392-8C>A
|
rs1688484445
|
|
|
NM_000090.4(COL3A1):c.2414C>G (p.Pro805Arg)
|
rs1688485263
|
|
|
NM_000090.4(COL3A1):c.2424T>C (p.Pro808=)
|
rs1268617769
|
|
|
NM_000090.4(COL3A1):c.242T>C (p.Phe81Ser)
|
rs1576460785
|
|
|
NM_000090.4(COL3A1):c.2433C>T (p.Phe811=)
|
rs1688486002
|
|
|
NM_000090.4(COL3A1):c.2436T>C (p.Pro812=)
|
rs1214826179
|
|
|
NM_000090.4(COL3A1):c.2440G>A (p.Ala814Thr)
|
rs1688486281
|
|
|
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=)
|
rs777361888
|
|
|
NM_000090.4(COL3A1):c.2490G>C (p.Pro830=)
|
rs777361888
|
|
|
NM_000090.4(COL3A1):c.2493T>C (p.Gly831=)
|
rs551541918
|
|
|
NM_000090.4(COL3A1):c.2499A>T (p.Lys833Asn)
|
rs1688501435
|
|
|
NM_000090.4(COL3A1):c.2521G>T (p.Val841Phe)
|
rs1688502124
|
|
|
NM_000090.4(COL3A1):c.2530C>G (p.Pro844Ala)
|
rs780490668
|
|
|
NM_000090.4(COL3A1):c.2540G>A (p.Gly847Asp)
|
|
|
|
NM_000090.4(COL3A1):c.2540G>T (p.Gly847Val)
|
rs1336654706
|
|
|
NM_000090.4(COL3A1):c.2553T>A (p.Ala851=)
|
rs1688503201
|
|
|
NM_000090.4(COL3A1):c.2554-6A>G
|
rs1688514197
|
|
|
NM_000090.4(COL3A1):c.2568C>T (p.Pro856=)
|
rs767262368
|
|
|
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His)
|
rs755762264
|
|
|
NM_000090.4(COL3A1):c.2601T>C (p.Gly867=)
|
|
|
|
NM_000090.4(COL3A1):c.2605C>A (p.Pro869Thr)
|
rs758992360
|
|
|
NM_000090.4(COL3A1):c.2606C>A (p.Pro869His)
|
rs794728052
|
|
|
NM_000090.4(COL3A1):c.2608-15A>G
|
rs1688522575
|
|
|
NM_000090.4(COL3A1):c.2614G>C (p.Ala872Pro)
|
rs1475390693
|
|
|
NM_000090.4(COL3A1):c.2633G>A (p.Arg878His)
|
rs1419949637
|
|
|
NM_000090.4(COL3A1):c.2675C>T (p.Pro892Leu)
|
rs1447793042
|
|
|
NM_000090.4(COL3A1):c.2720C>T (p.Pro907Leu)
|
rs1688530290
|
|
|
NM_000090.4(COL3A1):c.2723C>G (p.Ala908Gly)
|
rs144036995
|
|
|
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val)
|
rs144036995
|
|
|
NM_000090.4(COL3A1):c.2737G>C (p.Ala913Pro)
|
|
|
|
NM_000090.4(COL3A1):c.2756T>G (p.Val919Gly)
|
rs1426365127
|
|
|
NM_000090.4(COL3A1):c.2791G>C (p.Glu931Gln)
|
|
|
|
NM_000090.4(COL3A1):c.2801C>T (p.Ser934Leu)
|
rs753621331
|
|
|
NM_000090.4(COL3A1):c.2809G>A (p.Ala937Thr)
|
rs1688533171
|
|
|
NM_000090.4(COL3A1):c.2819C>A (p.Pro940Gln)
|
rs1221479337
|
|
|
NM_000090.4(COL3A1):c.2823+5G>A
|
rs1559060755
|
|
|
NM_000090.4(COL3A1):c.2823+5G>C
|
rs1559060755
|
|
|
NM_000090.4(COL3A1):c.2823+5_2823+8del
|
|
|
|
NM_000090.4(COL3A1):c.2824-10T>A
|
rs2153503519
|
|
|
NM_000090.4(COL3A1):c.2824-12T>C
|
|
|
|
NM_000090.4(COL3A1):c.2824-7G>A
|
rs1559060817
|
|
|
NM_000090.4(COL3A1):c.283C>A (p.Pro95Thr)
|
rs1688039740
|
|
|
NM_000090.4(COL3A1):c.2844G>A (p.Gly948=)
|
rs1688537796
|
|
|
NM_000090.4(COL3A1):c.2844G>T (p.Gly948=)
|
rs1688537796
|
|
|
NM_000090.4(COL3A1):c.2867G>A (p.Arg956Gln)
|
|
|
|
NM_000090.4(COL3A1):c.2899C>T (p.Pro967Ser)
|
|
|
|
NM_000090.4(COL3A1):c.2900C>A (p.Pro967His)
|
rs1688539642
|
|
|
NM_000090.4(COL3A1):c.2903G>A (p.Arg968Lys)
|
|
|
|
NM_000090.4(COL3A1):c.290G>A (p.Arg97His)
|
rs1197947308
|
|
|
NM_000090.4(COL3A1):c.290G>T (p.Arg97Leu)
|
rs1197947308
|
|
|
NM_000090.4(COL3A1):c.2917C>T (p.Pro973Ser)
|
rs1559060895
|
|
|
NM_000090.4(COL3A1):c.2932-6A>G
|
|
|
|
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His)
|
rs374527092
|
|
|
NM_000090.4(COL3A1):c.2980C>A (p.Pro994Thr)
|
rs142457159
|
|
|
NM_000090.4(COL3A1):c.2981C>T (p.Pro994Leu)
|
rs1688563132
|
|
|
NM_000090.4(COL3A1):c.2982C>G (p.Pro994=)
|
|
|
|
NM_000090.4(COL3A1):c.2982C>T (p.Pro994=)
|
|
|
|
NM_000090.4(COL3A1):c.2992C>G (p.Gln998Glu)
|
|
|
|
NM_000090.4(COL3A1):c.3001C>T (p.Pro1001Ser)
|
rs777180110
|
|
|
NM_000090.4(COL3A1):c.3007C>T (p.Leu1003=)
|
rs868559197
|
|
|
NM_000090.4(COL3A1):c.3009G>T (p.Leu1003=)
|
rs762167409
|
|
|
NM_000090.4(COL3A1):c.300T>A (p.Asn100Lys)
|
rs776373729
|
|
|
NM_000090.4(COL3A1):c.300T>G (p.Asn100Lys)
|
rs776373729
|
|
|
NM_000090.4(COL3A1):c.3010G>T (p.Ala1004Ser)
|
rs770199071
|
|
|
NM_000090.4(COL3A1):c.3027A>G (p.Glu1009=)
|
rs1688564473
|
|
|
NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)
|
|
|
|
NM_000090.4(COL3A1):c.3044A>G (p.Asn1015Ser)
|
rs1064796863
|
|
|
NM_000090.4(COL3A1):c.305A>T (p.Gln102Leu)
|
rs748033086
|
|
|
NM_000090.4(COL3A1):c.3089G>A (p.Gly1030Asp)
|
|
|
|
NM_000090.4(COL3A1):c.3092A>C (p.Lys1031Thr)
|
rs749725146
|
|
|
NM_000090.4(COL3A1):c.3093+3A>C
|
rs771429937
|
|
|
NM_000090.4(COL3A1):c.3093+5A>G
|
rs1688583785
|
|
|
NM_000090.4(COL3A1):c.3100C>A (p.Arg1034Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3101G>T (p.Arg1034Leu)
|
rs780788248
|
|
|
NM_000090.4(COL3A1):c.3117T>C (p.Ser1039=)
|
rs1559061716
|
|
|
NM_000090.4(COL3A1):c.3134C>T (p.Ala1045Val)
|
|
|
|
NM_000090.4(COL3A1):c.3141T>A (p.Gly1047=)
|
rs1443252912
|
|
|
NM_000090.4(COL3A1):c.3172G>A (p.Ala1058Thr)
|
rs1576471863
|
|
|
NM_000090.4(COL3A1):c.3186T>C (p.Gly1062=)
|
|
|
|
NM_000090.4(COL3A1):c.3190A>G (p.Arg1064Gly)
|
|
|
|
NM_000090.4(COL3A1):c.3201+3G>A
|
|
|
|
NM_000090.4(COL3A1):c.3202-12T>C
|
rs2153503779
|
|
|
NM_000090.4(COL3A1):c.3207T>G (p.Pro1069=)
|
rs774148328
|
|
|
NM_000090.4(COL3A1):c.320C>G (p.Pro107Arg)
|
rs1559052813
|
|
|
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=)
|
rs1060503873
|
|
|
NM_000090.4(COL3A1):c.3235G>T (p.Ala1079Ser)
|
rs1688599491
|
|
|
NM_000090.4(COL3A1):c.3250G>T (p.Ala1084Ser)
|
rs113038686
|
|
|
NM_000090.4(COL3A1):c.3252T>C (p.Ala1084=)
|
|
|
|
NM_000090.4(COL3A1):c.3255+11_3255+20dup
|
|
|
|
NM_000090.4(COL3A1):c.3255T>A (p.Pro1085=)
|
rs763604822
|
|
|
NM_000090.4(COL3A1):c.3256-43T>C
|
rs587779667
|
|
|
NM_000090.4(COL3A1):c.3258T>A (p.Gly1086=)
|
rs1688619835
|
|
|
NM_000090.4(COL3A1):c.3272G>A (p.Arg1091His)
|
|
|
|
NM_000090.4(COL3A1):c.3281A>G (p.Lys1094Arg)
|
rs2153503892
|
|
|
NM_000090.4(COL3A1):c.3290C>G (p.Thr1097Arg)
|
rs1224538144
|
|
|
NM_000090.4(COL3A1):c.3309T>G (p.Ala1103=)
|
rs1688621437
|
|
|
NM_000090.4(COL3A1):c.3317A>G (p.Lys1106Arg)
|
|
|
|
NM_000090.4(COL3A1):c.3323A>G (p.His1108Arg)
|
rs1688621770
|
|
|
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)
|
rs112371422
|
|
|
NM_000090.4(COL3A1):c.3341A>G (p.Asn1114Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3363+4A>C
|
|
|
|
NM_000090.4(COL3A1):c.3364-9del
|
rs1688629852
|
|
|
NM_000090.4(COL3A1):c.3367C>G (p.Pro1123Ala)
|
|
|
|
NM_000090.4(COL3A1):c.3375T>C (p.Gly1125=)
|
rs1355734194
|
|
|
NM_000090.4(COL3A1):c.3388A>G (p.Ile1130Val)
|
|
|
|
NM_000090.4(COL3A1):c.3390C>A (p.Ile1130=)
|
rs148918486
|
|
|
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser)
|
rs587779536
|
|
|
NM_000090.4(COL3A1):c.3393C>T (p.Gly1131=)
|
|
|
|
NM_000090.4(COL3A1):c.3415A>G (p.Arg1139Gly)
|
rs1688631864
|
|
|
NM_000090.4(COL3A1):c.3418-5C>G
|
rs377392671
|
|
|
NM_000090.4(COL3A1):c.3422C>T (p.Pro1141Leu)
|
rs1576472883
|
|
|
NM_000090.4(COL3A1):c.3425T>G (p.Val1142Gly)
|
rs777307062
|
|
|
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs)
|
rs2153503975
|
|
|
NM_000090.4(COL3A1):c.3476C>T (p.Pro1159Leu)
|
rs1378423439
|
|
|
NM_000090.4(COL3A1):c.3478A>G (p.Ile1160Val)
|
rs1688636735
|
|
|
NM_000090.4(COL3A1):c.348T>C (p.Ile116=)
|
|
|
|
NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp)
|
rs587779578
|
|
|
NM_000090.4(COL3A1):c.3505A>C (p.Arg1169=)
|
rs546664098
|
|
|
NM_000090.4(COL3A1):c.3525+5G>A
|
rs2153503988
|
|
|
NM_000090.4(COL3A1):c.3526-4C>T
|
|
|
|
NM_000090.4(COL3A1):c.3526-6T>C
|
|
|
|
NM_000090.4(COL3A1):c.3537C>T (p.Gly1179=)
|
rs146837092
|
|
|
NM_000090.4(COL3A1):c.3551C>G (p.Pro1184Arg)
|
rs1688657446
|
|
|
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser)
|
rs1324996402
|
|
|
NM_000090.4(COL3A1):c.3570T>C (p.Pro1190=)
|
rs1688657949
|
|
|
NM_000090.4(COL3A1):c.3574_3582del (p.Ala1192_Gly1194del)
|
rs2153504077
|
|
|
NM_000090.4(COL3A1):c.3576C>G (p.Ala1192=)
|
rs574331101
|
|
|
NM_000090.4(COL3A1):c.3577C>T (p.Pro1193Ser)
|
rs1275851079
|
|
|
NM_000090.4(COL3A1):c.3595G>A (p.Gly1199Ser)
|
rs2153504082
|
|
|
NM_000090.4(COL3A1):c.3596G>T (p.Gly1199Val)
|
rs1688658772
|
|
|
NM_000090.4(COL3A1):c.3601_3602delinsTT (p.Gly1201Leu)
|
|
|
|
NM_000090.4(COL3A1):c.3628G>A (p.Gly1210Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3637G>C (p.Ala1213Pro)
|
rs1427744978
|
|
|
NM_000090.4(COL3A1):c.3642C>T (p.Gly1214=)
|
rs184402915
|
|
|
NM_000090.4(COL3A1):c.3654G>A (p.Pro1218=)
|
rs35759441
|
|
|
NM_000090.4(COL3A1):c.3658T>A (p.Tyr1220Asn)
|
rs1688661231
|
|
|
NM_000090.4(COL3A1):c.3670C>T (p.Pro1224Ser)
|
|
|
|
NM_000090.4(COL3A1):c.3672A>G (p.Pro1224=)
|
rs1204937173
|
|
|
NM_000090.4(COL3A1):c.3676G>A (p.Asp1226Asn)
|
rs1453881906
|
|
|
NM_000090.4(COL3A1):c.3678T>C (p.Asp1226=)
|
rs1688661575
|
|
|
NM_000090.4(COL3A1):c.3693C>T (p.Thr1231=)
|
rs368556405
|
|
|
NM_000090.4(COL3A1):c.369T>A (p.Pro123=)
|
rs1688052063
|
|
|
NM_000090.4(COL3A1):c.3746T>C (p.Ile1249Thr)
|
|
|
|
NM_000090.4(COL3A1):c.3754G>A (p.Asp1252Asn)
|
rs1688664293
|
|
|
NM_000090.4(COL3A1):c.3763C>T (p.Arg1255Cys)
|
rs1576473569
|
|
|
NM_000090.4(COL3A1):c.3764G>T (p.Arg1255Leu)
|
rs368119434
|
|
|
NM_000090.4(COL3A1):c.3771C>T (p.Asn1257=)
|
|
|
|
NM_000090.4(COL3A1):c.3796A>C (p.Lys1266Gln)
|
rs946156674
|
|
|
NM_000090.4(COL3A1):c.3800T>C (p.Phe1267Ser)
|
rs1194692141
|
|
|
NM_000090.4(COL3A1):c.3801C>G (p.Phe1267Leu)
|
rs1042884028
|
|
|
NM_000090.4(COL3A1):c.3803G>C (p.Cys1268Ser)
|
rs1688665916
|
|
|
NM_000090.4(COL3A1):c.3816C>T (p.Leu1272=)
|
rs754340753
|
|
|
NM_000090.4(COL3A1):c.3824-13T>G
|
rs1000595244
|
|
|
NM_000090.4(COL3A1):c.3837T>G (p.Val1279=)
|
rs1688689651
|
|
|
NM_000090.4(COL3A1):c.3846C>T (p.Asn1282=)
|
rs1688690083
|
|
|
NM_000090.4(COL3A1):c.3868A>C (p.Ile1290Leu)
|
rs757734757
|
|
|
NM_000090.4(COL3A1):c.3868A>G (p.Ile1290Val)
|
|
|
|
NM_000090.4(COL3A1):c.3869T>C (p.Ile1290Thr)
|
rs1688690716
|
|
|
NM_000090.4(COL3A1):c.3873G>A (p.Lys1291=)
|
rs1688690801
|
|
|
NM_000090.4(COL3A1):c.3873G>C (p.Lys1291Asn)
|
|
|
|
NM_000090.4(COL3A1):c.3882T>C (p.Cys1294=)
|
rs1033051824
|
|
|
NM_000090.4(COL3A1):c.3903A>T (p.Thr1301=)
|
rs1688691551
|
|
|
NM_000090.4(COL3A1):c.3907A>G (p.Ile1303Val)
|
|
|
|
NM_000090.4(COL3A1):c.3913G>T (p.Ala1305Ser)
|
rs1688691968
|
|
|
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu)
|
rs886038983
|
|
|
NM_000090.4(COL3A1):c.393C>T (p.Ser131=)
|
rs1688052638
|
|
|
NM_000090.4(COL3A1):c.3940C>T (p.His1314Tyr)
|
rs1688692678
|
|
|
NM_000090.4(COL3A1):c.3953A>G (p.Asp1318Gly)
|
rs1688692973
|
|
|
NM_000090.4(COL3A1):c.3964G>C (p.Glu1322Gln)
|
rs149522780
|
|
|
NM_000090.4(COL3A1):c.3966G>A (p.Glu1322=)
|
rs560861999
|
|
|
NM_000090.4(COL3A1):c.3969G>C (p.Lys1323Asn)
|
rs2153504249
|
|
|
NM_000090.4(COL3A1):c.3996G>A (p.Met1332Ile)
|
|
|
|
NM_000090.4(COL3A1):c.4012-13T>C
|
rs1688702104
|
|
|
NM_000090.4(COL3A1):c.402T>G (p.Ser134=)
|
rs2153501486
|
|
|
NM_000090.4(COL3A1):c.4046T>C (p.Val1349Ala)
|
|
|
|
NM_000090.4(COL3A1):c.4065A>G (p.Ala1355=)
|
rs778893289
|
|
|
NM_000090.4(COL3A1):c.4066T>G (p.Phe1356Val)
|
rs945183835
|
|
|
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter)
|
rs794728057
|
|
|
NM_000090.4(COL3A1):c.4080C>A (p.Leu1360=)
|
rs771682647
|
|
|
NM_000090.4(COL3A1):c.4088G>A (p.Arg1363Gln)
|
rs1227282800
|
|
|
NM_000090.4(COL3A1):c.4089A>G (p.Arg1363=)
|
rs1576474398
|
|
|
NM_000090.4(COL3A1):c.4131A>C (p.Ala1377=)
|
rs560478513
|
|
|
NM_000090.4(COL3A1):c.4134C>T (p.Tyr1378=)
|
rs2153504329
|
|
|
NM_000090.4(COL3A1):c.4135A>T (p.Met1379Leu)
|
rs1060500196
|
|
|
NM_000090.4(COL3A1):c.4143G>C (p.Gln1381His)
|
rs1029608155
|
|
|
NM_000090.4(COL3A1):c.4143G>T (p.Gln1381His)
|
rs1029608155
|
|
|
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile)
|
rs1158116878
|
|
|
NM_000090.4(COL3A1):c.416G>C (p.Gly139Ala)
|
|
|
|
NM_000090.4(COL3A1):c.4178T>G (p.Met1393Arg)
|
rs1688707596
|
|
|
NM_000090.4(COL3A1):c.419T>C (p.Ile140Thr)
|
rs750849196
|
|
|
NM_000090.4(COL3A1):c.4215T>C (p.Asn1405=)
|
rs1553509938
|
|
|
NM_000090.4(COL3A1):c.4226C>G (p.Thr1409Ser)
|
rs1688708929
|
|
|
NM_000090.4(COL3A1):c.4233A>G (p.Thr1411=)
|
rs1688709104
|
|
|
NM_000090.4(COL3A1):c.4253C>A (p.Thr1418Lys)
|
rs1012915558
|
|
|
NM_000090.4(COL3A1):c.4255-11C>A
|
rs766242305
|
|
|
NM_000090.4(COL3A1):c.4255-13T>G
|
rs1688727983
|
|
|
NM_000090.4(COL3A1):c.4255-5del
|
|
|
|
NM_000090.4(COL3A1):c.4255-5dup
|
rs756502242
|
|
|
NM_000090.4(COL3A1):c.4266G>A (p.Gly1422=)
|
rs1553509998
|
|
|
NM_000090.4(COL3A1):c.4275C>A (p.Ser1425Arg)
|
rs1688728943
|
|
|
NM_000090.4(COL3A1):c.4275C>G (p.Ser1425Arg)
|
rs1688728943
|
|
|
NM_000090.4(COL3A1):c.4295G>A (p.Arg1432Gln)
|
rs772428340
|
|
|
NM_000090.4(COL3A1):c.429A>T (p.Ser143=)
|
rs1688053631
|
|
|
NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro)
|
rs148015311
|
|
|
NM_000090.4(COL3A1):c.4311G>C (p.Val1437=)
|
rs1688730215
|
|
|
NM_000090.4(COL3A1):c.431G>A (p.Cys144Tyr)
|
rs1688053672
|
|
|
NM_000090.4(COL3A1):c.4321A>G (p.Ile1441Val)
|
|
|
|
NM_000090.4(COL3A1):c.4330A>G (p.Ile1444Val)
|
rs1688730862
|
|
|
NM_000090.4(COL3A1):c.4353T>C (p.Gly1451=)
|
rs112729086
|
|
|
NM_000090.4(COL3A1):c.4356T>C (p.Pro1452=)
|
rs1688732011
|
|
|
NM_000090.4(COL3A1):c.4365A>G (p.Glu1455=)
|
rs1688732280
|
|
|
NM_000090.4(COL3A1):c.4384C>A (p.Pro1462Thr)
|
rs1688732943
|
|
|
NM_000090.4(COL3A1):c.446A>T (p.Gln149Leu)
|
|
|
|
NM_000090.4(COL3A1):c.474T>C (p.Tyr158=)
|
rs1688078938
|
|
|
NM_000090.4(COL3A1):c.493G>C (p.Ala165Pro)
|
|
|
|
NM_000090.4(COL3A1):c.494C>T (p.Ala165Val)
|
|
|
|
NM_000090.4(COL3A1):c.499GGA[1] (p.Gly168del)
|
rs1688079577
|
|
|
NM_000090.4(COL3A1):c.507C>G (p.Leu169=)
|
rs142437505
|
|
|
NM_000090.4(COL3A1):c.522A>T (p.Gly174=)
|
|
|
|
NM_000090.4(COL3A1):c.529-4C>G
|
rs1688100177
|
|
|
NM_000090.4(COL3A1):c.529-8C>T
|
|
|
|
NM_000090.4(COL3A1):c.531C>T (p.Gly177=)
|
rs41272797
|
|
|
NM_000090.4(COL3A1):c.540C>A (p.Gly180=)
|
|
|
|
NM_000090.4(COL3A1):c.542C>T (p.Pro181Leu)
|
rs746628029
|
|
|
NM_000090.4(COL3A1):c.546C>A (p.Pro182=)
|
rs754584062
|
|
|
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)
|
rs121912926
|
|
|
NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala)
|
rs1300339107
|
|
|
NM_000090.4(COL3A1):c.55A>T (p.Thr19Ser)
|
|
|
|
NM_000090.4(COL3A1):c.561A>C (p.Thr187=)
|
rs747650774
|
|
|
NM_000090.4(COL3A1):c.582+4_582+7dup
|
|
|
|
NM_000090.4(COL3A1):c.583-14A>T
|
|
|
|
NM_000090.4(COL3A1):c.583-7T>C
|
rs886055330
|
|
|
NM_000090.4(COL3A1):c.58A>G (p.Ile20Val)
|
rs1342128671
|
|
|
NM_000090.4(COL3A1):c.591A>G (p.Pro197=)
|
rs1261508252
|
|
|
NM_000090.4(COL3A1):c.598C>A (p.Gln200Lys)
|
|
|
|
NM_000090.4(COL3A1):c.605C>T (p.Pro202Leu)
|
rs1688111694
|
|
|
NM_000090.4(COL3A1):c.607C>G (p.Pro203Ala)
|
rs1688111809
|
|
|
NM_000090.4(COL3A1):c.607C>T (p.Pro203Ser)
|
rs1688111809
|
|
|
NM_000090.4(COL3A1):c.617C>G (p.Pro206Arg)
|
rs1268896574
|
|
|
NM_000090.4(COL3A1):c.627T>A (p.Ala209=)
|
|
|
|
NM_000090.4(COL3A1):c.637-4T>G
|
|
|
|
NM_000090.4(COL3A1):c.639C>A (p.Gly213=)
|
rs2153501865
|
|
|
NM_000090.4(COL3A1):c.659C>T (p.Ala220Val)
|
rs867258281
|
|
|
NM_000090.4(COL3A1):c.661A>G (p.Ile221Val)
|
|
|
|
NM_000090.4(COL3A1):c.679G>T (p.Ala227Ser)
|
|
|
|
NM_000090.4(COL3A1):c.691-12T>G
|
rs1688154429
|
|
|
NM_000090.4(COL3A1):c.708C>G (p.Pro236=)
|
rs775390389
|
|
|
NM_000090.4(COL3A1):c.739C>A (p.Pro247Thr)
|
rs1688156029
|
|
|
NM_000090.4(COL3A1):c.74A>G (p.Gln25Arg)
|
rs748787122
|
|
|
NM_000090.4(COL3A1):c.784A>G (p.Met262Val)
|
rs1688161240
|
|
|
NM_000090.4(COL3A1):c.799-6del
|
rs767927599
|
|
|
NM_000090.4(COL3A1):c.80-13del
|
rs1688028070
|
|
|
NM_000090.4(COL3A1):c.80C>A (p.Ala27Asp)
|
rs759521597
|
|
|
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly)
|
rs1688177791
|
|
|
NM_000090.4(COL3A1):c.825G>A (p.Lys275=)
|
rs754262933
|
|
|
NM_000090.4(COL3A1):c.839C>T (p.Ala280Val)
|
rs1422693997
|
|
|
NM_000090.4(COL3A1):c.842C>A (p.Pro281His)
|
rs794728039
|
|
|
NM_000090.4(COL3A1):c.852G>A (p.Lys284=)
|
|
|
|
NM_000090.4(COL3A1):c.853-10A>C
|
rs1688187387
|
|
|
NM_000090.4(COL3A1):c.853-4C>G
|
rs1559055041
|
|
|
NM_000090.4(COL3A1):c.853-4C>T
|
rs1559055041
|
|
|
NM_000090.4(COL3A1):c.86_88del (p.Glu29del)
|
rs1559052566
|
|
|
NM_000090.4(COL3A1):c.873C>A (p.Gly291=)
|
rs138569287
|
|
|
NM_000090.4(COL3A1):c.876A>G (p.Glu292=)
|
|
|
|
NM_000090.4(COL3A1):c.885T>C (p.Ala295=)
|
rs1688188420
|
|
|
NM_000090.4(COL3A1):c.898-4G>T
|
|
|
|
NM_000090.4(COL3A1):c.898-8C>T
|
rs766564882
|
|
|
NM_000090.4(COL3A1):c.902C>T (p.Pro301Leu)
|
rs1273313377
|
|
|
NM_000090.4(COL3A1):c.904A>G (p.Arg302Gly)
|
|
|
|
NM_000090.4(COL3A1):c.911C>T (p.Ala304Val)
|
rs730880061
|
|
|
NM_000090.4(COL3A1):c.927A>G (p.Gly309=)
|
|
|
|
NM_000090.4(COL3A1):c.931C>T (p.Pro311Ser)
|
rs2153502120
|
|
|
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser)
|
rs958176385
|
|
|
NM_000090.4(COL3A1):c.947C>T (p.Ala316Val)
|
rs2153502123
|
|
|
NM_000090.4(COL3A1):c.952-8C>G
|
rs1688203259
|
|
|
NM_000090.4(COL3A1):c.958C>T (p.Arg320Trp)
|
rs1386163891
|
|
|
NM_000090.4(COL3A1):c.959G>A (p.Arg320Gln)
|
rs778179067
|
|
|
NM_000090.4(COL3A1):c.982A>G (p.Ser328Gly)
|
rs1688204324
|
|
|
NM_000090.4(COL3A1):c.997-1G>C
|
rs587779687
|
|
|
NM_000138.5(FBN1):c.-12C>T
|
|
|
|
NM_000138.5(FBN1):c.-7_-6dup
|
rs1890264079
|
|
|
NM_000138.5(FBN1):c.100G>A (p.Val34Met)
|
|
|
|
NM_000138.5(FBN1):c.101T>C (p.Val34Ala)
|
rs1890260465
|
|
|
NM_000138.5(FBN1):c.1029G>T (p.Gly343=)
|
rs75655780
|
|
|
NM_000138.5(FBN1):c.1057A>T (p.Ile353Leu)
|
rs750653834
|
|
|
NM_000138.5(FBN1):c.1082A>T (p.Asp361Val)
|
rs2043845991
|
|
|
NM_000138.5(FBN1):c.1085C>T (p.Ala362Val)
|
rs1374436710
|
|
|
NM_000138.5(FBN1):c.1089C>A (p.Gly363=)
|
rs2043845816
|
|
|
NM_000138.5(FBN1):c.1090C>G (p.Arg364Gly)
|
rs794728165
|
|
|
NM_000138.5(FBN1):c.10G>T (p.Gly4Trp)
|
rs1890263469
|
|
|
NM_000138.5(FBN1):c.110C>A (p.Thr37Asn)
|
rs1890260193
|
|
|
NM_000138.5(FBN1):c.1114G>C (p.Val372Leu)
|
rs2141336011
|
|
|
NM_000138.5(FBN1):c.1145C>G (p.Thr382Ser)
|
rs2043844619
|
|
|
NM_000138.5(FBN1):c.1147+4A>G
|
rs2043844451
|
|
|
NM_000138.5(FBN1):c.1148-15G>T
|
rs2043802610
|
|
|
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys)
|
rs368737502
|
|
|
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro)
|
rs779113310
|
|
|
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu)
|
rs534127494
|
|
|
NM_000138.5(FBN1):c.1191G>A (p.Gly397=)
|
|
|
|
NM_000138.5(FBN1):c.1192A>C (p.Arg398=)
|
rs397515754
|
|
|
NM_000138.5(FBN1):c.1195C>G (p.Pro399Ala)
|
rs886039155
|
|
|
NM_000138.5(FBN1):c.1200A>C (p.Glu400Asp)
|
|
|
|
NM_000138.5(FBN1):c.1201T>A (p.Tyr401Asn)
|
|
|
|
NM_000138.5(FBN1):c.1202A>T (p.Tyr401Phe)
|
|
|
|
NM_000138.5(FBN1):c.1210C>G (p.Pro404Ala)
|
rs2043801000
|
|
|
NM_000138.5(FBN1):c.1211C>A (p.Pro404Gln)
|
rs779930519
|
|
|
NM_000138.5(FBN1):c.1211C>T (p.Pro404Leu)
|
rs779930519
|
|
|
NM_000138.5(FBN1):c.1213C>A (p.Pro405Thr)
|
rs2043800829
|
|
|
NM_000138.5(FBN1):c.121C>G (p.Arg41Gly)
|
rs1158441291
|
|
|
NM_000138.5(FBN1):c.1229C>A (p.Pro410His)
|
rs2043800530
|
|
|
NM_000138.5(FBN1):c.1247C>T (p.Pro416Leu)
|
rs2141330993
|
|
|
NM_000138.5(FBN1):c.1268C>G (p.Pro423Arg)
|
rs1298538974
|
|
|
NM_000138.5(FBN1):c.126C>G (p.Ala42=)
|
|
|
|
NM_000138.5(FBN1):c.1278G>A (p.Pro426=)
|
rs113245313
|
|
|
NM_000138.5(FBN1):c.1278G>T (p.Pro426=)
|
rs113245313
|
|
|
NM_000138.5(FBN1):c.1281C>A (p.Val427=)
|
rs759949880
|
|
|
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)
|
rs368089138
|
|
|
NM_000138.5(FBN1):c.1296G>T (p.Val432=)
|
rs777926611
|
|
|
NM_000138.5(FBN1):c.1305G>T (p.Leu435=)
|
rs769895864
|
|
|
NM_000138.5(FBN1):c.1311A>G (p.Pro437=)
|
rs1253494702
|
|
|
NM_000138.5(FBN1):c.1317G>A (p.Arg439=)
|
rs2043798918
|
|
|
NM_000138.5(FBN1):c.132A>T (p.Arg44Ser)
|
rs1890259134
|
|
|
NM_000138.5(FBN1):c.1335G>T (p.Leu445=)
|
|
|
|
NM_000138.5(FBN1):c.133A>G (p.Arg45Gly)
|
rs1597652333
|
|
|
NM_000138.5(FBN1):c.1361A>G (p.Gln454Arg)
|
rs2043793504
|
|
|
NM_000138.5(FBN1):c.136G>A (p.Gly46Ser)
|
rs1890259021
|
|
|
NM_000138.5(FBN1):c.1396A>G (p.Ile466Val)
|
rs2043792834
|
|
|
NM_000138.5(FBN1):c.1397T>C (p.Ile466Thr)
|
|
|
|
NM_000138.5(FBN1):c.1406C>T (p.Pro469Leu)
|
|
|
|
NM_000138.5(FBN1):c.1425G>C (p.Glu475Asp)
|
rs752142729
|
|
|
NM_000138.5(FBN1):c.1449C>T (p.Asp483=)
|
rs1436745636
|
|
|
NM_000138.5(FBN1):c.1469-3_1469-1del
|
rs2043779232
|
|
|
NM_000138.5(FBN1):c.146G>A (p.Gly49Glu)
|
|
|
|
NM_000138.5(FBN1):c.1471G>T (p.Val491Phe)
|
rs373751659
|
|
|
NM_000138.5(FBN1):c.1472T>C (p.Val491Ala)
|
rs2043779139
|
|
|
NM_000138.5(FBN1):c.1476T>C (p.Asp492=)
|
rs758967612
|
|
|
NM_000138.5(FBN1):c.1491C>G (p.Asn497Lys)
|
|
|
|
NM_000138.5(FBN1):c.1506T>C (p.Gly502=)
|
rs770426679
|
|
|
NM_000138.5(FBN1):c.1513A>G (p.Ile505Val)
|
rs2043778389
|
|
|
NM_000138.5(FBN1):c.1530G>A (p.Ser510=)
|
rs147511977
|
|
|
NM_000138.5(FBN1):c.1530G>T (p.Ser510=)
|
rs147511977
|
|
|
NM_000138.5(FBN1):c.1535C>T (p.Thr512Ile)
|
rs1555400280
|
|
|
NM_000138.5(FBN1):c.1536C>T (p.Thr512=)
|
rs1178360874
|
|
|
NM_000138.5(FBN1):c.1566A>T (p.Thr522=)
|
rs531264662
|
|
|
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp)
|
rs768253008
|
|
|
NM_000138.5(FBN1):c.1574G>A (p.Arg525Gln)
|
|
|
|
NM_000138.5(FBN1):c.1589-5T>C
|
rs1371798538
|
|
|
NM_000138.5(FBN1):c.1589-8G>T
|
rs779629563
|
|
|
NM_000138.5(FBN1):c.1599G>A (p.Glu533=)
|
|
|
|
NM_000138.5(FBN1):c.1624A>C (p.Asn542His)
|
rs1597578012
|
|
|
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser)
|
rs963564435
|
|
|
NM_000138.5(FBN1):c.162A>G (p.Lys54=)
|
rs777116853
|
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
|
NM_000138.5(FBN1):c.1639A>C (p.Ile547Leu)
|
|
|
|
NM_000138.5(FBN1):c.165-8_165-6delinsGG
|
rs2044669818
|
|
|
NM_000138.5(FBN1):c.1657T>G (p.Phe553Val)
|
|
|
|
NM_000138.5(FBN1):c.1666G>A (p.Val556Met)
|
rs1239988676
|
|
|
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser)
|
rs2044669666
|
|
|
NM_000138.5(FBN1):c.1714+5T>C
|
rs2043745384
|
|
|
NM_000138.5(FBN1):c.1715-9T>A
|
rs1057520813
|
|
|
NM_000138.5(FBN1):c.1761T>C (p.Cys587=)
|
rs1060504143
|
|
|
NM_000138.5(FBN1):c.177T>A (p.Cys59Ter)
|
rs2044669557
|
|
|
NM_000138.5(FBN1):c.1803A>C (p.Gly601=)
|
rs2043731963
|
|
|
NM_000138.5(FBN1):c.1812G>A (p.Leu604=)
|
rs2043731864
|
|
|
NM_000138.5(FBN1):c.1823G>A (p.Gly608Glu)
|
rs368283028
|
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
|
NM_000138.5(FBN1):c.1848G>A (p.Glu616=)
|
rs2043698082
|
|
|
NM_000138.5(FBN1):c.1866C>A (p.Ile622=)
|
rs780255280
|
|
|
NM_000138.5(FBN1):c.1872G>C (p.Met624Ile)
|
rs2141317399
|
|
|
NM_000138.5(FBN1):c.1892C>G (p.Thr631Ser)
|
rs913115111
|
|
|
NM_000138.5(FBN1):c.1897G>A (p.Gly633Ser)
|
rs2141317297
|
|
|
NM_000138.5(FBN1):c.1898G>C (p.Gly633Ala)
|
rs1566914006
|
|
|
NM_000138.5(FBN1):c.1912G>A (p.Glu638Lys)
|
rs2141317254
|
|
|
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)
|
rs1566913983
|
|
|
NM_000138.5(FBN1):c.1961-15C>G
|
rs2043686921
|
|
|
NM_000138.5(FBN1):c.1961-9C>G
|
rs1323690451
|
|
|
NM_000138.5(FBN1):c.1968C>T (p.His656=)
|
rs2043686500
|
|
|
NM_000138.5(FBN1):c.1970T>C (p.Met657Thr)
|
rs2043686451
|
|
|
NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln)
|
rs794728181
|
|
|
NM_000138.5(FBN1):c.2000G>A (p.Arg667Lys)
|
rs2043685894
|
|
|
NM_000138.5(FBN1):c.2006A>G (p.Gln669Arg)
|
rs939784046
|
|
|
NM_000138.5(FBN1):c.2022G>T (p.Leu674Phe)
|
rs794728182
|
|
|
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
|
rs762312642
|
|
|
NM_000138.5(FBN1):c.2044G>C (p.Glu682Gln)
|
rs908212152
|
|
|
NM_000138.5(FBN1):c.2058C>G (p.Ala686=)
|
rs759859967
|
|
|
NM_000138.5(FBN1):c.2063C>A (p.Thr688Asn)
|
rs2043684944
|
|
|
NM_000138.5(FBN1):c.2064T>G (p.Thr688=)
|
|
|
|
NM_000138.5(FBN1):c.2094G>A (p.Pro698=)
|
rs144775475
|
|
|
NM_000138.5(FBN1):c.2114-15G>C
|
rs1566912665
|
|
|
NM_000138.5(FBN1):c.2139T>C (p.Ser713=)
|
rs2043633389
|
|
|
NM_000138.5(FBN1):c.2164A>G (p.Ser722Gly)
|
|
|
|
NM_000138.5(FBN1):c.2168-11T>G
|
|
|
|
NM_000138.5(FBN1):c.2168-15dup
|
rs762586890
|
|
|
NM_000138.5(FBN1):c.2168-3C>T
|
rs1391660963
|
|
|
NM_000138.5(FBN1):c.2168-4G>A
|
rs2141306607
|
|
|
NM_000138.5(FBN1):c.2168-7G>C
|
|
|
|
NM_000138.5(FBN1):c.218C>T (p.Thr73Ile)
|
rs2044668949
|
|
|
NM_000138.5(FBN1):c.2203C>T (p.Pro735Ser)
|
rs2043616905
|
|
|
NM_000138.5(FBN1):c.2204C>G (p.Pro735Arg)
|
|
|
|
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp)
|
rs878853678
|
|
|
NM_000138.5(FBN1):c.2214C>T (p.Ile738=)
|
rs2043616730
|
|
|
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly)
|
rs2043616665
|
|
|
NM_000138.5(FBN1):c.2232G>T (p.Gly744=)
|
rs762745991
|
|
|
NM_000138.5(FBN1):c.2277T>C (p.Thr759=)
|
rs1028807052
|
|
|
NM_000138.5(FBN1):c.2279G>A (p.Gly760Glu)
|
rs2141306332
|
|
|
NM_000138.5(FBN1):c.2283A>G (p.Lys761=)
|
|
|
|
NM_000138.5(FBN1):c.228C>A (p.Gly76=)
|
rs141651917
|
|
|
NM_000138.5(FBN1):c.2295T>A (p.Asp765Glu)
|
rs2141305165
|
|
|
NM_000138.5(FBN1):c.2310A>G (p.Val770=)
|
|
|
|
NM_000138.5(FBN1):c.2315A>G (p.Asn772Ser)
|
rs2043607383
|
|
|
NM_000138.5(FBN1):c.2318G>T (p.Ser773Ile)
|
rs1193928660
|
|
|
NM_000138.5(FBN1):c.2323C>T (p.Leu775Phe)
|
|
|
|
NM_000138.5(FBN1):c.2351C>T (p.Thr784Ile)
|
rs2043606965
|
|
|
NM_000138.5(FBN1):c.236dup (p.Cys80fs)
|
rs1566938153
|
|
|
NM_000138.5(FBN1):c.2373C>T (p.Thr791=)
|
|
|
|
NM_000138.5(FBN1):c.2385A>G (p.Gly795=)
|
rs1207115566
|
|
|
NM_000138.5(FBN1):c.2399C>G (p.Pro800Arg)
|
rs2043606468
|
|
|
NM_000138.5(FBN1):c.2420-15del
|
rs748642981
|
|
|
NM_000138.5(FBN1):c.2441G>A (p.Ser814Asn)
|
rs2043600469
|
|
|
NM_000138.5(FBN1):c.2464A>G (p.Lys822Glu)
|
rs2043600053
|
|
|
NM_000138.5(FBN1):c.2471G>A (p.Ser824Asn)
|
|
|
|
NM_000138.5(FBN1):c.2474C>A (p.Pro825Gln)
|
rs148396006
|
|
|
NM_000138.5(FBN1):c.2475A>T (p.Pro825=)
|
rs2141304247
|
|
|
NM_000138.5(FBN1):c.249C>A (p.Pro83=)
|
|
|
|
NM_000138.5(FBN1):c.2508T>C (p.Ser836=)
|
rs193922190
|
|
|
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser)
|
rs1381506466
|
|
|
NM_000138.5(FBN1):c.2543C>T (p.Thr848Ile)
|
rs878853680
|
|
|
NM_000138.5(FBN1):c.2544C>T (p.Thr848=)
|
rs2043596539
|
|
|
NM_000138.5(FBN1):c.2548A>C (p.Lys850Gln)
|
rs1481779864
|
|
|
NM_000138.5(FBN1):c.2564A>G (p.Gln855Arg)
|
rs2043596063
|
|
|
NM_000138.5(FBN1):c.2590A>G (p.Ile864Val)
|
|
|
|
NM_000138.5(FBN1):c.2601T>A (p.Asn867Lys)
|
rs759097188
|
|
|
NM_000138.5(FBN1):c.2609C>T (p.Thr870Ile)
|
|
|
|
NM_000138.5(FBN1):c.2613A>C (p.Leu871Phe)
|
rs770290542
|
|
|
NM_000138.5(FBN1):c.2613A>G (p.Leu871=)
|
rs770290542
|
|
|
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg)
|
rs2043595247
|
|
|
NM_000138.5(FBN1):c.2622G>T (p.Gln874His)
|
rs2043595231
|
|
|
NM_000138.5(FBN1):c.2641G>T (p.Ala881Ser)
|
|
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
|
NM_000138.5(FBN1):c.2646G>A (p.Ala882=)
|
rs376040442
|
|
|
NM_000138.5(FBN1):c.2666T>C (p.Leu889Pro)
|
rs1393818056
|
|
|
NM_000138.5(FBN1):c.2674G>A (p.Val892Ile)
|
|
|
|
NM_000138.5(FBN1):c.2678-14G>T
|
rs369475895
|
|
|
NM_000138.5(FBN1):c.2678A>G (p.Asp893Gly)
|
|
|
|
NM_000138.5(FBN1):c.2689G>A (p.Gly897Ser)
|
rs2141302435
|
|
|
NM_000138.5(FBN1):c.268G>A (p.Gly90Arg)
|
|
|
|
NM_000138.5(FBN1):c.269G>C (p.Gly90Ala)
|
rs2140734033
|
|
|
NM_000138.5(FBN1):c.2721A>G (p.Gln907=)
|
rs781062880
|
|
|
NM_000138.5(FBN1):c.2727A>C (p.Glu909Asp)
|
rs2043583978
|
|
|
NM_000138.5(FBN1):c.2729-17dup
|
rs35314876
|
|
|
NM_000138.5(FBN1):c.2729-3del
|
rs756503206
|
|
|
NM_000138.5(FBN1):c.2729-9del
|
rs35314876
|
|
|
NM_000138.5(FBN1):c.2735A>T (p.Asp912Val)
|
rs754919275
|
|
|
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys)
|
rs746834413
|
|
|
NM_000138.5(FBN1):c.2747T>G (p.Val916Gly)
|
rs2043569786
|
|
|
NM_000138.5(FBN1):c.2785A>G (p.Thr929Ala)
|
rs372203315
|
|
|
NM_000138.5(FBN1):c.2786C>T (p.Thr929Ile)
|
|
|
|
NM_000138.5(FBN1):c.2792G>C (p.Gly931Ala)
|
rs200078617
|
|
|
NM_000138.5(FBN1):c.2793G>C (p.Gly931=)
|
rs775785545
|
|
|
NM_000138.5(FBN1):c.2801A>C (p.Lys934Thr)
|
rs1489199503
|
|
|
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu)
|
rs758257941
|
|
|
NM_000138.5(FBN1):c.2817T>C (p.Ser939=)
|
rs1254659886
|
|
|
NM_000138.5(FBN1):c.2820A>T (p.Gly940=)
|
|
|
|
NM_000138.5(FBN1):c.2855-8T>C
|
rs193922195
|
|
|
NM_000138.5(FBN1):c.2861G>A (p.Arg954His)
|
rs112911555
|
|
|
NM_000138.5(FBN1):c.2884T>C (p.Tyr962His)
|
|
|
|
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys)
|
rs748905831
|
|
|
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile)
|
rs781698952
|
|
|
NM_000138.5(FBN1):c.2904C>T (p.Thr968=)
|
rs2043544643
|
|
|
NM_000138.5(FBN1):c.2908C>T (p.Pro970Ser)
|
rs755462838
|
|
|
NM_000138.5(FBN1):c.2911A>C (p.Ile971Leu)
|
|
|
|
NM_000138.5(FBN1):c.2913T>C (p.Ile971=)
|
rs2141297416
|
|
|
NM_000138.5(FBN1):c.2922C>G (p.Arg974=)
|
rs2043544318
|
|
|
NM_000138.5(FBN1):c.2922C>T (p.Arg974=)
|
rs2043544318
|
|
|
NM_000138.5(FBN1):c.2931G>A (p.Met977Ile)
|
|
|
|
NM_000138.5(FBN1):c.2934C>T (p.Asp978=)
|
rs138438849
|
|
|
NM_000138.5(FBN1):c.2952C>A (p.Val984=)
|
rs374670384
|
|
|
NM_000138.5(FBN1):c.2952C>T (p.Val984=)
|
rs374670384
|
|
|
NM_000138.5(FBN1):c.2976A>G (p.Glu992=)
|
rs755477434
|
|
|
NM_000138.5(FBN1):c.2982G>A (p.Glu994=)
|
rs758745637
|
|
|
NM_000138.5(FBN1):c.2995A>G (p.Arg999Gly)
|
|
|
|
NM_000138.5(FBN1):c.2999A>G (p.Asn1000Ser)
|
rs2043543012
|
|
|
NM_000138.5(FBN1):c.3012C>T (p.Tyr1004=)
|
rs397515784
|
|
|
NM_000138.5(FBN1):c.3016G>A (p.Glu1006Lys)
|
rs754040534
|
|
|
NM_000138.5(FBN1):c.301A>T (p.Thr101Ser)
|
|
|
|
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg)
|
rs794728200
|
|
|
NM_000138.5(FBN1):c.3025C>T (p.Pro1009Ser)
|
|
|
|
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu)
|
rs148076256
|
|
|
NM_000138.5(FBN1):c.3027G>A (p.Pro1009=)
|
rs774381427
|
|
|
NM_000138.5(FBN1):c.3063T>C (p.Asn1021=)
|
rs2043541978
|
|
|
NM_000138.5(FBN1):c.3076T>G (p.Phe1026Val)
|
rs2043541729
|
|
|
NM_000138.5(FBN1):c.3078C>T (p.Phe1026=)
|
rs553411757
|
|
|
NM_000138.5(FBN1):c.3082+4C>T
|
rs2141297000
|
|
|
NM_000138.5(FBN1):c.3083-10A>G
|
|
|
|
NM_000138.5(FBN1):c.3106C>A (p.Pro1036Thr)
|
rs2141295301
|
|
|
NM_000138.5(FBN1):c.3112C>T (p.Leu1038Phe)
|
rs1297814403
|
|
|
NM_000138.5(FBN1):c.3119C>A (p.Thr1040Asn)
|
rs2043529012
|
|
|
NM_000138.5(FBN1):c.3123C>T (p.His1041=)
|
rs576395584
|
|
|
NM_000138.5(FBN1):c.3160A>G (p.Arg1054Gly)
|
rs2043528343
|
|
|
NM_000138.5(FBN1):c.3172G>A (p.Gly1058Ser)
|
rs886039208
|
|
|
NM_000138.5(FBN1):c.3181C>T (p.Leu1061Phe)
|
rs781064769
|
|
|
NM_000138.5(FBN1):c.31C>G (p.Leu11Val)
|
|
|
|
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala)
|
rs761632843
|
|
|
NM_000138.5(FBN1):c.3208+3C>T
|
|
|
|
NM_000138.5(FBN1):c.3210C>T (p.Asp1070=)
|
rs754970748
|
|
|
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His)
|
rs369745372
|
|
|
NM_000138.5(FBN1):c.3266C>A (p.Thr1089Asn)
|
rs2043525347
|
|
|
NM_000138.5(FBN1):c.3268C>G (p.Pro1090Ala)
|
|
|
|
NM_000138.5(FBN1):c.3273G>A (p.Gly1091=)
|
|
|
|
NM_000138.5(FBN1):c.3341T>C (p.Ile1114Thr)
|
rs771972230
|
|
|
NM_000138.5(FBN1):c.3343G>A (p.Asp1115Asn)
|
rs2141293800
|
|
|
NM_000138.5(FBN1):c.3351T>C (p.Cys1117=)
|
|
|
|
NM_000138.5(FBN1):c.3361C>T (p.Pro1121Ser)
|
rs1445613212
|
|
|
NM_000138.5(FBN1):c.336C>T (p.Gly112=)
|
rs1555405526
|
|
|
NM_000138.5(FBN1):c.33G>A (p.Leu11=)
|
rs1164486664
|
|
|
NM_000138.5(FBN1):c.3421C>G (p.Pro1141Ala)
|
rs2043517417
|
|
|
NM_000138.5(FBN1):c.3423G>C (p.Pro1141=)
|
rs140396599
|
|
|
NM_000138.5(FBN1):c.3425C>G (p.Pro1142Arg)
|
rs2043517357
|
|
|
NM_000138.5(FBN1):c.3464-13A>C
|
|
|
|
NM_000138.5(FBN1):c.3464-14T>C
|
rs2043515652
|
|
|
NM_000138.5(FBN1):c.3464-16_3464-14del
|
rs775944757
|
|
|
NM_000138.5(FBN1):c.3464-5_3464-3delinsAAT
|
rs2043515456
|
|
|
NM_000138.5(FBN1):c.347-12T>G
|
rs2140718351
|
|
|
NM_000138.5(FBN1):c.347-19CTT[2]
|
rs756583965
|
|
|
NM_000138.5(FBN1):c.347-5del
|
rs561135562
|
|
|
NM_000138.5(FBN1):c.3478G>A (p.Glu1160Lys)
|
rs193922199
|
|
|
NM_000138.5(FBN1):c.3493C>T (p.Leu1165=)
|
rs2043515081
|
|
|
NM_000138.5(FBN1):c.3507C>T (p.Gly1169=)
|
rs2043514898
|
|
|
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)
|
rs1366894709
|
|
|
NM_000138.5(FBN1):c.3555C>A (p.Gly1185=)
|
|
|
|
NM_000138.5(FBN1):c.3569_3570delinsAA (p.Pro1190Gln)
|
rs2043514115
|
|
|
NM_000138.5(FBN1):c.3573T>C (p.Asp1191=)
|
rs150912619
|
|
|
NM_000138.5(FBN1):c.3575G>A (p.Arg1192Lys)
|
rs751764864
|
|
|
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile)
|
rs1352765609
|
|
|
NM_000138.5(FBN1):c.3590-11A>G
|
rs777262423
|
|
|
NM_000138.5(FBN1):c.359A>G (p.Asn120Ser)
|
rs753900024
|
|
|
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)
|
rs753900024
|
|
|
NM_000138.5(FBN1):c.3600A>G (p.Glu1200=)
|
|
|
|
NM_000138.5(FBN1):c.3605_3606delinsTT (p.Ser1202Ile)
|
rs2043498514
|
|
|
NM_000138.5(FBN1):c.3636C>T (p.Cys1212=)
|
rs2043497888
|
|
|
NM_000138.5(FBN1):c.3639A>G (p.Thr1213=)
|
|
|
|
NM_000138.5(FBN1):c.3648A>G (p.Glu1216=)
|
rs2043497802
|
|
|
NM_000138.5(FBN1):c.365G>T (p.Arg122Leu)
|
rs1010750845
|
|
|
NM_000138.5(FBN1):c.3685C>T (p.Leu1229=)
|
rs1352354877
|
|
|
NM_000138.5(FBN1):c.3709A>G (p.Thr1237Ala)
|
rs1459223225
|
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
|
NM_000138.5(FBN1):c.3713-3C>T
|
rs2043485821
|
|
|
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp)
|
rs772890884
|
|
|
NM_000138.5(FBN1):c.3771C>T (p.Ile1257=)
|
rs2043485175
|
|
|
NM_000138.5(FBN1):c.3780G>A (p.Glu1260=)
|
|
|
|
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser)
|
rs1555398280
|
|
|
NM_000138.5(FBN1):c.3801T>C (p.Asp1267=)
|
rs769208631
|
|
|
NM_000138.5(FBN1):c.3823A>G (p.Met1275Val)
|
rs747414686
|
|
|
NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr)
|
rs2043467019
|
|
|
NM_000138.5(FBN1):c.3876A>C (p.Leu1292=)
|
|
|
|
NM_000138.5(FBN1):c.3897G>C (p.Thr1299=)
|
rs771283158
|
|
|
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)
|
rs773614956
|
|
|
NM_000138.5(FBN1):c.3902G>C (p.Gly1301Ala)
|
rs1566908083
|
|
|
NM_000138.5(FBN1):c.3925A>G (p.Met1309Val)
|
rs2043466374
|
|
|
NM_000138.5(FBN1):c.3937G>C (p.Gly1313Arg)
|
rs1156984408
|
|
|
NM_000138.5(FBN1):c.3947G>A (p.Gly1316Glu)
|
rs2141287306
|
|
|
NM_000138.5(FBN1):c.3965-11C>A
|
rs748242564
|
|
|
NM_000138.5(FBN1):c.3965-15dup
|
rs2043405703
|
|
|
NM_000138.5(FBN1):c.3965-5T>C
|
|
|
|
NM_000138.5(FBN1):c.3975A>G (p.Glu1325=)
|
rs1555397741
|
|
|
NM_000138.5(FBN1):c.3990A>G (p.Ala1330=)
|
rs1566906555
|
|
|
NM_000138.5(FBN1):c.3996C>G (p.Asn1332Lys)
|
rs2043405102
|
|
|
NM_000138.5(FBN1):c.4011T>C (p.Ala1337=)
|
|
|
|
NM_000138.5(FBN1):c.4023T>C (p.Asn1341=)
|
rs2043404831
|
|
|
NM_000138.5(FBN1):c.4035C>T (p.Ser1345=)
|
rs1400471354
|
|
|
NM_000138.5(FBN1):c.4055C>A (p.Pro1352His)
|
|
|
|
NM_000138.5(FBN1):c.4072G>A (p.Gly1358Ser)
|
|
|
|
NM_000138.5(FBN1):c.4074C>A (p.Gly1358=)
|
rs2043404070
|
|
|
NM_000138.5(FBN1):c.4080G>T (p.Lys1360Asn)
|
|
|
|
NM_000138.5(FBN1):c.4084A>C (p.Thr1362Pro)
|
rs2043403949
|
|
|
NM_000138.5(FBN1):c.4088-6T>C
|
rs902902435
|
|
|
NM_000138.5(FBN1):c.4127A>G (p.Gln1376Arg)
|
rs1597553861
|
|
|
NM_000138.5(FBN1):c.4128G>T (p.Gln1376His)
|
rs1180794278
|
|
|
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu)
|
rs1238143005
|
|
|
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)
|
rs1488326228
|
|
|
NM_000138.5(FBN1):c.4154G>T (p.Gly1385Val)
|
rs2141279776
|
|
|
NM_000138.5(FBN1):c.4155A>T (p.Gly1385=)
|
rs2141279769
|
|
|
NM_000138.5(FBN1):c.4157C>T (p.Ser1386Phe)
|
rs794728219
|
|
|
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu)
|
rs749196340
|
|
|
NM_000138.5(FBN1):c.4186A>G (p.Thr1396Ala)
|
rs2043401583
|
|
|
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile)
|
rs2043401571
|
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
|
NM_000138.5(FBN1):c.4193A>G (p.Asp1398Gly)
|
rs781045902
|
|
|
NM_000138.5(FBN1):c.4194T>C (p.Asp1398=)
|
rs2043401428
|
|
|
NM_000138.5(FBN1):c.4201A>G (p.Thr1401Ala)
|
|
|
|
NM_000138.5(FBN1):c.4205G>C (p.Cys1402Ser)
|
|
|
|
NM_000138.5(FBN1):c.4206T>C (p.Cys1402=)
|
rs2141279643
|
|
|
NM_000138.5(FBN1):c.4210+4T>A
|
|
|
|
NM_000138.5(FBN1):c.4211-12T>G
|
rs2043387174
|
|
|
NM_000138.5(FBN1):c.4211-8G>C
|
rs764384543
|
|
|
NM_000138.5(FBN1):c.421A>T (p.Ile141Leu)
|
rs2044550436
|
|
|
NM_000138.5(FBN1):c.422T>C (p.Ile141Thr)
|
|
|
|
NM_000138.5(FBN1):c.4231A>C (p.Asn1411His)
|
rs1366885432
|
|
|
NM_000138.5(FBN1):c.4257G>T (p.Gln1419His)
|
|
|
|
NM_000138.5(FBN1):c.4269A>T (p.Ala1423=)
|
rs775256810
|
|
|
NM_000138.5(FBN1):c.4277G>C (p.Gly1426Ala)
|
rs531751210
|
|
|
NM_000138.5(FBN1):c.4293C>T (p.Cys1431=)
|
rs112375043
|
|
|
NM_000138.5(FBN1):c.4306G>T (p.Val1436Leu)
|
rs377338217
|
|
|
NM_000138.5(FBN1):c.4309C>G (p.Pro1437Ala)
|
rs1408492045
|
|
|
NM_000138.5(FBN1):c.4336+3A>G
|
rs2141277819
|
|
|
NM_000138.5(FBN1):c.4336+4A>G
|
rs764099050
|
|
|
NM_000138.5(FBN1):c.4337-11C>G
|
rs201012099
|
|
|
NM_000138.5(FBN1):c.4337-12C>T
|
rs573468967
|
|
|
NM_000138.5(FBN1):c.4337-15C>T
|
rs760625906
|
|
|
NM_000138.5(FBN1):c.4337-4dup
|
rs1566905439
|
|
|
NM_000138.5(FBN1):c.4337-7C>T
|
rs2043367095
|
|
|
NM_000138.5(FBN1):c.4337-9C>G
|
rs201001403
|
|
|
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly)
|
rs397515806
|
|
|
NM_000138.5(FBN1):c.4361A>G (p.Asn1454Ser)
|
rs1555397415
|
|
|
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser)
|
rs397515807
|
|
|
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)
|
rs1555397413
|
|
|
NM_000138.5(FBN1):c.4390C>T (p.Leu1464Phe)
|
rs1161494614
|
|
|
NM_000138.5(FBN1):c.4404C>T (p.Phe1468=)
|
rs780479561
|
|
|
NM_000138.5(FBN1):c.442+4A>C
|
rs768207411
|
|
|
NM_000138.5(FBN1):c.443-12C>A
|
rs1027154934
|
|
|
NM_000138.5(FBN1):c.443-8T>C
|
rs1319616777
|
|
|
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)
|
rs370161725
|
|
|
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu)
|
rs1566904712
|
|
|
NM_000138.5(FBN1):c.4478A>G (p.Asp1493Gly)
|
rs1597549141
|
|
|
NM_000138.5(FBN1):c.4480C>T (p.Pro1494Ser)
|
rs2043341698
|
|
|
NM_000138.5(FBN1):c.4503C>T (p.Asn1501=)
|
rs2043341420
|
|
|
NM_000138.5(FBN1):c.4543C>T (p.Pro1515Ser)
|
rs1219583611
|
|
|
NM_000138.5(FBN1):c.4548T>G (p.Asp1516Glu)
|
rs2043340843
|
|
|
NM_000138.5(FBN1):c.4565C>T (p.Thr1522Ile)
|
|
|
|
NM_000138.5(FBN1):c.456T>A (p.Ser152Arg)
|
rs2044516014
|
|
|
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile)
|
rs2043340600
|
|
|
NM_000138.5(FBN1):c.4583-12T>C
|
rs1326100045
|
|
|
NM_000138.5(FBN1):c.4583-8G>C
|
rs910464222
|
|
|
NM_000138.5(FBN1):c.4584T>A (p.Asp1528Glu)
|
rs2141272538
|
|
|
NM_000138.5(FBN1):c.4586C>T (p.Thr1529Ile)
|
rs794728227
|
|
|
NM_000138.5(FBN1):c.4588C>A (p.Arg1530Ser)
|
rs111401431
|
|
|
NM_000138.5(FBN1):c.4593T>C (p.Ser1531=)
|
rs985992262
|
|
|
NM_000138.5(FBN1):c.4594G>C (p.Gly1532Arg)
|
|
|
|
NM_000138.5(FBN1):c.4609G>T (p.Asp1537Tyr)
|
rs757316301
|
|
|
NM_000138.5(FBN1):c.463C>T (p.Leu155Phe)
|
rs1324666333
|
|
|
NM_000138.5(FBN1):c.4640C>G (p.Thr1547Arg)
|
rs183306990
|
|
|
NM_000138.5(FBN1):c.4643C>G (p.Ala1548Gly)
|
rs2141272405
|
|
|
NM_000138.5(FBN1):c.465C>T (p.Leu155=)
|
|
|
|
NM_000138.5(FBN1):c.4678G>A (p.Ala1560Thr)
|
rs142858432
|
|
|
NM_000138.5(FBN1):c.4679C>T (p.Ala1560Val)
|
|
|
|
NM_000138.5(FBN1):c.4713T>A (p.Gly1571=)
|
rs1363175789
|
|
|
NM_000138.5(FBN1):c.4728G>A (p.Met1576Ile)
|
rs2141272271
|
|
|
NM_000138.5(FBN1):c.4732C>G (p.Pro1578Ala)
|
rs2141272257
|
|
|
NM_000138.5(FBN1):c.4747+4A>G
|
rs1430326088
|
|
|
NM_000138.5(FBN1):c.4748-11T>C
|
rs549918653
|
|
|
NM_000138.5(FBN1):c.4748-3T>C
|
rs770762644
|
|
|
NM_000138.5(FBN1):c.4749C>T (p.Ser1583=)
|
rs1275608178
|
|
|
NM_000138.5(FBN1):c.4757A>G (p.Lys1586Arg)
|
rs2043316400
|
|
|
NM_000138.5(FBN1):c.4776G>A (p.Gly1592=)
|
|
|
|
NM_000138.5(FBN1):c.477G>A (p.Arg159=)
|
rs1456579664
|
|
|
NM_000138.5(FBN1):c.477G>T (p.Arg159Ser)
|
rs1456579664
|
|
|
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln)
|
rs769588424
|
|
|
NM_000138.5(FBN1):c.4791A>C (p.Pro1597=)
|
rs2043316050
|
|
|
NM_000138.5(FBN1):c.4817-3T>C
|
rs2141269791
|
|
|
NM_000138.5(FBN1):c.4817-5G>A
|
rs2043315019
|
|
|
NM_000138.5(FBN1):c.4836G>A (p.Glu1612=)
|
rs1468665879
|
|
|
NM_000138.5(FBN1):c.4843G>C (p.Gly1615Arg)
|
rs1486011211
|
|
|
NM_000138.5(FBN1):c.484G>T (p.Ala162Ser)
|
rs193922210
|
|
|
NM_000138.5(FBN1):c.4853A>G (p.Gln1618Arg)
|
rs2043314733
|
|
|
NM_000138.5(FBN1):c.4860A>C (p.Gly1620=)
|
|
|
|
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=)
|
rs2043314687
|
|
|
NM_000138.5(FBN1):c.4886T>C (p.Phe1629Ser)
|
|
|
|
NM_000138.5(FBN1):c.4903A>G (p.Thr1635Ala)
|
rs1374520881
|
|
|
NM_000138.5(FBN1):c.4905C>T (p.Thr1635=)
|
rs113115949
|
|
|
NM_000138.5(FBN1):c.4912T>C (p.Tyr1638His)
|
rs2141269601
|
|
|
NM_000138.5(FBN1):c.4930C>A (p.Arg1644=)
|
rs140630
|
|
|
NM_000138.5(FBN1):c.4930C>G (p.Arg1644Gly)
|
rs140630
|
|
|
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)
|
rs140630
|
|
|
NM_000138.5(FBN1):c.4967G>T (p.Gly1656Val)
|
rs2043301092
|
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
|
NM_000138.5(FBN1):c.5001T>C (p.Val1667=)
|
rs2043300751
|
|
|
NM_000138.5(FBN1):c.5004C>G (p.Gly1668=)
|
rs1272960714
|
|
|
NM_000138.5(FBN1):c.5024C>T (p.Pro1675Leu)
|
rs1245578187
|
|
|
NM_000138.5(FBN1):c.5048G>A (p.Gly1683Glu)
|
rs2043300299
|
|
|
NM_000138.5(FBN1):c.5062A>G (p.Met1688Val)
|
rs2043300134
|
|
|
NM_000138.5(FBN1):c.5064G>T (p.Met1688Ile)
|
rs2141267563
|
|
|
NM_000138.5(FBN1):c.5066-12C>A
|
rs531105331
|
|
|
NM_000138.5(FBN1):c.5066-12C>T
|
rs531105331
|
|
|
NM_000138.5(FBN1):c.5066-13A>T
|
rs1167489368
|
|
|
NM_000138.5(FBN1):c.5066-13_5066-12delinsTAA
|
rs2043294261
|
|
|
NM_000138.5(FBN1):c.5066-13_5066-12delinsTAT
|
rs2043294261
|
|
|
NM_000138.5(FBN1):c.5066-14del
|
rs3833018
|
|
|
NM_000138.5(FBN1):c.5066-14dup
|
rs3833018
|
|
|
NM_000138.5(FBN1):c.5066-15_5066-14del
|
rs3833018
|
|
|
NM_000138.5(FBN1):c.5069T>C (p.Met1690Thr)
|
rs199644881
|
|
|
NM_000138.5(FBN1):c.5080T>C (p.Leu1694=)
|
rs2043294030
|
|
|
NM_000138.5(FBN1):c.5093A>G (p.Asn1698Ser)
|
rs2043293815
|
|
|
NM_000138.5(FBN1):c.5109C>T (p.Asn1703=)
|
rs1235270306
|
|
|
NM_000138.5(FBN1):c.5121T>A (p.Asp1707Glu)
|
|
|
|
NM_000138.5(FBN1):c.5140A>G (p.Met1714Val)
|
rs1555396776
|
|
|
NM_000138.5(FBN1):c.5142G>C (p.Met1714Ile)
|
rs368287795
|
|
|
NM_000138.5(FBN1):c.5149A>C (p.Lys1717Gln)
|
rs777640133
|
|
|
NM_000138.5(FBN1):c.5151G>A (p.Lys1717=)
|
rs201772841
|
|
|
NM_000138.5(FBN1):c.5176G>A (p.Gly1726Ser)
|
rs2043292422
|
|
|
NM_000138.5(FBN1):c.519T>C (p.Thr173=)
|
rs2044514992
|
|
|
NM_000138.5(FBN1):c.5204A>G (p.Gln1735Arg)
|
|
|
|
NM_000138.5(FBN1):c.5223A>G (p.Thr1741=)
|
rs2043291766
|
|
|
NM_000138.5(FBN1):c.5224+3G>A
|
rs2141266479
|
|
|
NM_000138.5(FBN1):c.5225-10A>T
|
|
|
|
NM_000138.5(FBN1):c.5225-15G>A
|
rs2141264061
|
|
|
NM_000138.5(FBN1):c.5271C>T (p.Ile1757=)
|
rs1291913287
|
|
|
NM_000138.5(FBN1):c.5282C>G (p.Thr1761Ser)
|
rs2141263978
|
|
|
NM_000138.5(FBN1):c.5297-4C>G
|
rs2043241739
|
|
|
NM_000138.5(FBN1):c.5300T>C (p.Ile1767Thr)
|
|
|
|
NM_000138.5(FBN1):c.5355G>T (p.Met1785Ile)
|
rs2043240928
|
|
|
NM_000138.5(FBN1):c.5358T>C (p.Val1786=)
|
rs1057521207
|
|
|
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)
|
rs1555396428
|
|
|
NM_000138.5(FBN1):c.5373T>C (p.Cys1791=)
|
rs1555396426
|
|
|
NM_000138.5(FBN1):c.5382A>G (p.Pro1794=)
|
|
|
|
NM_000138.5(FBN1):c.5383G>T (p.Val1795Leu)
|
rs2141260344
|
|
|
NM_000138.5(FBN1):c.5405A>T (p.Lys1802Met)
|
|
|
|
NM_000138.5(FBN1):c.5406G>T (p.Lys1802Asn)
|
rs2043240104
|
|
|
NM_000138.5(FBN1):c.5407T>C (p.Leu1803=)
|
rs1597540825
|
|
|
NM_000138.5(FBN1):c.5409G>A (p.Leu1803=)
|
rs906226501
|
|
|
NM_000138.5(FBN1):c.5422+4A>G
|
rs2043239792
|
|
|
NM_000138.5(FBN1):c.543C>T (p.Tyr181=)
|
rs1597593852
|
|
|
NM_000138.5(FBN1):c.545G>A (p.Arg182Lys)
|
rs2044026912
|
|
|
NM_000138.5(FBN1):c.5465_5467dup (p.Ala1822dup)
|
rs2043210146
|
|
|
NM_000138.5(FBN1):c.5489G>A (p.Ser1830Asn)
|
rs2043209851
|
|
|
NM_000138.5(FBN1):c.552C>A (p.Gly184=)
|
rs2044026882
|
|
|
NM_000138.5(FBN1):c.5530A>G (p.Thr1844Ala)
|
rs2043209318
|
|
|
NM_000138.5(FBN1):c.5531C>A (p.Thr1844Lys)
|
rs761886457
|
|
|
NM_000138.5(FBN1):c.555A>G (p.Pro185=)
|
rs1597593844
|
|
|
NM_000138.5(FBN1):c.5569C>T (p.Pro1857Ser)
|
rs2043179615
|
|
|
NM_000138.5(FBN1):c.5589G>A (p.Gly1863=)
|
rs1566899552
|
|
|
NM_000138.5(FBN1):c.5597T>C (p.Ile1866Thr)
|
rs773133679
|
|
|
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg)
|
rs145082616
|
|
|
NM_000138.5(FBN1):c.5607T>C (p.Val1869=)
|
rs1597535252
|
|
|
NM_000138.5(FBN1):c.560T>A (p.Phe187Tyr)
|
|
|
|
NM_000138.5(FBN1):c.5611A>C (p.Ser1871Arg)
|
rs2141252175
|
|
|
NM_000138.5(FBN1):c.5613C>A (p.Ser1871Arg)
|
rs776310363
|
|
|
NM_000138.5(FBN1):c.5651A>T (p.Asp1884Val)
|
|
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
|
NM_000138.5(FBN1):c.5672-6T>A
|
rs1555395850
|
|
|
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val)
|
rs760170973
|
|
|
NM_000138.5(FBN1):c.5697C>T (p.Ala1899=)
|
rs772617187
|
|
|
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile)
|
rs1269096957
|
|
|
NM_000138.5(FBN1):c.5716C>G (p.Arg1906Gly)
|
rs746343138
|
|
|
NM_000138.5(FBN1):c.5718G>C (p.Arg1906=)
|
rs1403178913
|
|
|
NM_000138.5(FBN1):c.5723C>T (p.Thr1908Ile)
|
rs1304811982
|
|
|
NM_000138.5(FBN1):c.5725A>C (p.Ile1909Leu)
|
rs886038785
|
|
|
NM_000138.5(FBN1):c.5744G>A (p.Arg1915His)
|
|
|
|
NM_000138.5(FBN1):c.5778T>G (p.Asn1926Lys)
|
rs2043162237
|
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
|
NM_000138.5(FBN1):c.5788+4C>T
|
rs577301285
|
|
|
NM_000138.5(FBN1):c.5789-13G>A
|
rs777593835
|
|
|
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile)
|
rs1555395768
|
|
|
NM_000138.5(FBN1):c.5810G>C (p.Gly1937Ala)
|
rs1566898444
|
|
|
NM_000138.5(FBN1):c.5838A>G (p.Gln1946=)
|
rs759049300
|
|
|
NM_000138.5(FBN1):c.5850A>G (p.Thr1950=)
|
rs2043151355
|
|
|
NM_000138.5(FBN1):c.5856G>C (p.Gly1952=)
|
rs763490270
|
|
|
NM_000138.5(FBN1):c.5859T>C (p.Ser1953=)
|
rs2043151177
|
|
|
NM_000138.5(FBN1):c.5865G>T (p.Gln1955His)
|
rs1292712431
|
|
|
NM_000138.5(FBN1):c.5875A>C (p.Asn1959His)
|
rs956702513
|
|
|
NM_000138.5(FBN1):c.5891T>C (p.Val1964Ala)
|
rs1252001573
|
|
|
NM_000138.5(FBN1):c.5896C>T (p.Pro1966Ser)
|
rs2141249124
|
|
|
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg)
|
rs886051251
|
|
|
NM_000138.5(FBN1):c.5902G>A (p.Gly1968Arg)
|
rs768997549
|
|
|
NM_000138.5(FBN1):c.5906G>T (p.Arg1969Met)
|
|
|
|
NM_000138.5(FBN1):c.5925T>C (p.Asn1975=)
|
rs1555395667
|
|
|
NM_000138.5(FBN1):c.5954C>T (p.Ala1985Val)
|
|
|
|
NM_000138.5(FBN1):c.595C>G (p.Leu199Val)
|
rs1221144366
|
|
|
NM_000138.5(FBN1):c.5990G>A (p.Arg1997Lys)
|
rs2043139780
|
|
|
NM_000138.5(FBN1):c.5994C>T (p.Cys1998=)
|
rs1555395648
|
|
|
NM_000138.5(FBN1):c.5995A>C (p.Ile1999Leu)
|
|
|
|
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val)
|
rs183690919
|
|
|
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu)
|
rs1566898093
|
|
|
NM_000138.5(FBN1):c.600C>T (p.Ser200=)
|
|
|
|
NM_000138.5(FBN1):c.6017T>G (p.Leu2006Arg)
|
rs772214666
|
|
|
NM_000138.5(FBN1):c.6038-13G>T
|
rs536742402
|
|
|
NM_000138.5(FBN1):c.6038-4T>A
|
rs2043117871
|
|
|
NM_000138.5(FBN1):c.6054C>G (p.Val2018=)
|
rs542953863
|
|
|
NM_000138.5(FBN1):c.6084A>G (p.Thr2028=)
|
rs1597529803
|
|
|
NM_000138.5(FBN1):c.6105C>T (p.Ser2035=)
|
rs2043116979
|
|
|
NM_000138.5(FBN1):c.6134C>T (p.Ser2045Phe)
|
rs2043116675
|
|
|
NM_000138.5(FBN1):c.6139T>C (p.Ser2047Pro)
|
rs2043116606
|
|
|
NM_000138.5(FBN1):c.6143C>T (p.Ser2048Phe)
|
rs1566897382
|
|
|
NM_000138.5(FBN1):c.6147T>A (p.Ser2049Arg)
|
rs553959381
|
|
|
NM_000138.5(FBN1):c.6156G>A (p.Arg2052=)
|
|
|
|
NM_000138.5(FBN1):c.6163+4A>C
|
rs2141245330
|
|
|
NM_000138.5(FBN1):c.6167T>G (p.Leu2056Trp)
|
|
|
|
NM_000138.5(FBN1):c.6191A>T (p.Lys2064Met)
|
rs2043085579
|
|
|
NM_000138.5(FBN1):c.621G>A (p.Thr207=)
|
rs765173237
|
|
|
NM_000138.5(FBN1):c.621G>T (p.Thr207=)
|
rs765173237
|
|
|
NM_000138.5(FBN1):c.6307C>G (p.Pro2103Ala)
|
rs2141241414
|
|
|
NM_000138.5(FBN1):c.6308C>A (p.Pro2103His)
|
|
|
|
NM_000138.5(FBN1):c.6314-6C>T
|
rs2141240971
|
|
|
NM_000138.5(FBN1):c.6317C>T (p.Ala2106Val)
|
|
|
|
NM_000138.5(FBN1):c.6330A>G (p.Ile2110Met)
|
rs2043081649
|
|
|
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val)
|
rs572754741
|
|
|
NM_000138.5(FBN1):c.6380-12delinsTG
|
rs2043078856
|
|
|
NM_000138.5(FBN1):c.6380-15T>A
|
rs2043078920
|
|
|
NM_000138.5(FBN1):c.6380-20dup
|
rs768078387
|
|
|
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His)
|
rs746167150
|
|
|
NM_000138.5(FBN1):c.6432T>C (p.Asn2144=)
|
rs1191949195
|
|
|
NM_000138.5(FBN1):c.6444C>T (p.Ser2148=)
|
rs771170047
|
|
|
NM_000138.5(FBN1):c.6446A>T (p.Tyr2149Phe)
|
rs113080385
|
|
|
NM_000138.5(FBN1):c.6449G>T (p.Arg2150Leu)
|
rs794728250
|
|
|
NM_000138.5(FBN1):c.6478G>A (p.Ala2160Thr)
|
rs2043077484
|
|
|
NM_000138.5(FBN1):c.6481G>C (p.Gly2161Arg)
|
rs2141240301
|
|
|
NM_000138.5(FBN1):c.6497-15C>T
|
rs569535886
|
|
|
NM_000138.5(FBN1):c.6523C>A (p.Pro2175Thr)
|
rs2043051465
|
|
|
NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser)
|
rs2141237126
|
|
|
NM_000138.5(FBN1):c.653G>A (p.Gly218Asp)
|
|
|
|
NM_000138.5(FBN1):c.6565G>C (p.Glu2189Gln)
|
rs1566895264
|
|
|
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala)
|
rs763165301
|
|
|
NM_000138.5(FBN1):c.6609A>T (p.Thr2203=)
|
rs547573220
|
|
|
NM_000138.5(FBN1):c.6616+3A>G
|
rs2043049941
|
|
|
NM_000138.5(FBN1):c.6617-10T>C
|
rs2043036193
|
|
|
NM_000138.5(FBN1):c.6617-7G>A
|
rs2043036160
|
|
|
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met)
|
rs921997271
|
|
|
NM_000138.5(FBN1):c.6681A>T (p.Ser2227=)
|
rs363824
|
|
|
NM_000138.5(FBN1):c.6686A>G (p.Glu2229Gly)
|
|
|
|
NM_000138.5(FBN1):c.6691A>C (p.Lys2231Gln)
|
rs1207479679
|
|
|
NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe)
|
rs368439899
|
|
|
NM_000138.5(FBN1):c.6708T>C (p.Tyr2236=)
|
rs2043034940
|
|
|
NM_000138.5(FBN1):c.6732G>T (p.Met2244Ile)
|
rs780960909
|
|
|
NM_000138.5(FBN1):c.6739+3G>A
|
|
|
|
NM_000138.5(FBN1):c.6740-15G>T
|
rs2043018499
|
|
|
NM_000138.5(FBN1):c.6740-9T>G
|
rs2043018430
|
|
|
NM_000138.5(FBN1):c.6759G>C (p.Glu2253Asp)
|
rs2043018030
|
|
|
NM_000138.5(FBN1):c.6787A>G (p.Met2263Val)
|
rs2043017749
|
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
|
NM_000138.5(FBN1):c.6807T>A (p.Ile2269=)
|
rs1566894280
|
|
|
NM_000138.5(FBN1):c.6807T>C (p.Ile2269=)
|
rs1566894280
|
|
|
NM_000138.5(FBN1):c.6813A>G (p.Thr2271=)
|
rs2043017412
|
|
|
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu)
|
rs2043017212
|
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
|
NM_000138.5(FBN1):c.6854A>G (p.Asp2285Gly)
|
rs1160071679
|
|
|
NM_000138.5(FBN1):c.6857G>A (p.Gly2286Glu)
|
rs1455580241
|
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
|
NM_000138.5(FBN1):c.6891G>C (p.Thr2297=)
|
|
|
|
NM_000138.5(FBN1):c.6916C>A (p.Arg2306Ser)
|
|
|
|
NM_000138.5(FBN1):c.6956A>G (p.Asn2319Ser)
|
|
|
|
NM_000138.5(FBN1):c.6987C>T (p.Asp2329=)
|
rs363831
|
|
|
NM_000138.5(FBN1):c.6998-11_6998-10dup
|
rs781182393
|
|
|
NM_000138.5(FBN1):c.6998-22_6998-5del
|
|
|
|
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)
|
rs794728262
|
|
|
NM_000138.5(FBN1):c.7025A>C (p.Glu2342Ala)
|
|
|
|
NM_000138.5(FBN1):c.7050C>T (p.Ile2350=)
|
rs772287755
|
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
|
NM_000138.5(FBN1):c.7067A>G (p.Asn2356Ser)
|
rs886038968
|
|
|
NM_000138.5(FBN1):c.706A>C (p.Ile236Leu)
|
|
|
|
NM_000138.5(FBN1):c.7086A>G (p.Glu2362=)
|
rs2141228998
|
|
|
NM_000138.5(FBN1):c.7106G>A (p.Arg2369Lys)
|
|
|
|
NM_000138.5(FBN1):c.7122C>G (p.His2374Gln)
|
|
|
|
NM_000138.5(FBN1):c.7136C>T (p.Pro2379Leu)
|
rs1295154212
|
|
|
NM_000138.5(FBN1):c.7137T>A (p.Pro2379=)
|
|
|
|
NM_000138.5(FBN1):c.7140C>A (p.Phe2380Leu)
|
rs2141228892
|
|
|
NM_000138.5(FBN1):c.7158C>T (p.Phe2386=)
|
rs1334850076
|
|
|
NM_000138.5(FBN1):c.7176T>A (p.His2392Gln)
|
|
|
|
NM_000138.5(FBN1):c.7191G>T (p.Met2397Ile)
|
rs2042987428
|
|
|
NM_000138.5(FBN1):c.7193C>T (p.Thr2398Ile)
|
rs1169351376
|
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
|
NM_000138.5(FBN1):c.719G>C (p.Arg240Pro)
|
|
|
|
NM_000138.5(FBN1):c.719G>T (p.Arg240Leu)
|
|
|
|
NM_000138.5(FBN1):c.7200A>T (p.Gly2400=)
|
|
|
|
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser)
|
rs771260695
|
|
|
NM_000138.5(FBN1):c.7228C>G (p.His2410Asp)
|
rs548057493
|
|
|
NM_000138.5(FBN1):c.7236T>C (p.Val2412=)
|
rs1306021418
|
|
|
NM_000138.5(FBN1):c.7239C>T (p.Cys2413=)
|
rs2042975041
|
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
|
NM_000138.5(FBN1):c.726A>T (p.Gly242=)
|
|
|
|
NM_000138.5(FBN1):c.7299C>T (p.Tyr2433=)
|
rs1566892872
|
|
|
NM_000138.5(FBN1):c.7305A>G (p.Pro2435=)
|
rs2042974267
|
|
|
NM_000138.5(FBN1):c.7310T>C (p.Ile2437Thr)
|
rs2141226872
|
|
|
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
|
|
|
|
NM_000138.5(FBN1):c.7350G>A (p.Gln2450=)
|
rs2141226473
|
|
|
NM_000138.5(FBN1):c.7353T>C (p.Ala2451=)
|
rs2042971907
|
|
|
NM_000138.5(FBN1):c.7367A>G (p.Asn2456Ser)
|
rs2042971753
|
|
|
NM_000138.5(FBN1):c.737-19_737-16del
|
rs748812494
|
|
|
NM_000138.5(FBN1):c.7372A>G (p.Ile2458Val)
|
|
|
|
NM_000138.5(FBN1):c.7374C>G (p.Ile2458Met)
|
rs2042971724
|
|
|
NM_000138.5(FBN1):c.7406C>T (p.Ser2469Leu)
|
rs2141226337
|
|
|
NM_000138.5(FBN1):c.7412C>T (p.Pro2471Leu)
|
rs193922233
|
|
|
NM_000138.5(FBN1):c.7428G>A (p.Leu2476=)
|
rs1229985371
|
|
|
NM_000138.5(FBN1):c.7446C>G (p.Ser2482Arg)
|
rs2042970897
|
|
|
NM_000138.5(FBN1):c.7454-11T>A
|
rs2042948219
|
|
|
NM_000138.5(FBN1):c.7454-12A>C
|
rs762905968
|
|
|
NM_000138.5(FBN1):c.7454-4G>T
|
rs1365010331
|
|
|
NM_000138.5(FBN1):c.7471A>G (p.Thr2491Ala)
|
rs761602510
|
|
|
NM_000138.5(FBN1):c.7485C>T (p.Asn2495=)
|
rs2042947523
|
|
|
NM_000138.5(FBN1):c.7497A>C (p.Leu2499=)
|
rs148516442
|
|
|
NM_000138.5(FBN1):c.7506C>T (p.Asn2502=)
|
|
|
|
NM_000138.5(FBN1):c.7508C>T (p.Thr2503Ile)
|
rs749654334
|
|
|
NM_000138.5(FBN1):c.7510A>T (p.Ile2504Phe)
|
rs1223532755
|
|
|
NM_000138.5(FBN1):c.7515C>T (p.Gly2505=)
|
rs374570475
|
|
|
NM_000138.5(FBN1):c.7522A>G (p.Thr2508Ala)
|
rs1034405424
|
|
|
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=)
|
rs754992689
|
|
|
NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile)
|
rs2042946390
|
|
|
NM_000138.5(FBN1):c.7553A>G (p.His2518Arg)
|
|
|
|
NM_000138.5(FBN1):c.7570+3G>T
|
rs771716341
|
|
|
NM_000138.5(FBN1):c.7571-5C>T
|
rs1232021292
|
|
|
NM_000138.5(FBN1):c.7602G>T (p.Leu2534=)
|
rs1392530685
|
|
|
NM_000138.5(FBN1):c.7606G>T (p.Gly2536Trp)
|
rs397515854
|
|
|
NM_000138.5(FBN1):c.7646C>T (p.Thr2549Ile)
|
rs2042942480
|
|
|
NM_000138.5(FBN1):c.7660C>G (p.Arg2554Gly)
|
rs369294972
|
|
|
NM_000138.5(FBN1):c.7685G>C (p.Gly2562Ala)
|
rs867067196
|
|
|
NM_000138.5(FBN1):c.7700-14T>C
|
rs2042935295
|
|
|
NM_000138.5(FBN1):c.7700-9C>G
|
rs772261791
|
|
|
NM_000138.5(FBN1):c.7700-9C>T
|
rs772261791
|
|
|
NM_000138.5(FBN1):c.7710G>A (p.Glu2570=)
|
rs748055037
|
|
|
NM_000138.5(FBN1):c.7714G>A (p.Glu2572Lys)
|
rs2141220835
|
|
|
NM_000138.5(FBN1):c.7728C>T (p.Arg2576=)
|
rs751226629
|
|
|
NM_000138.5(FBN1):c.7762T>C (p.Tyr2588His)
|
|
|
|
NM_000138.5(FBN1):c.7788C>T (p.Tyr2596=)
|
rs1555394142
|
|
|
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg)
|
rs2043995400
|
|
|
NM_000138.5(FBN1):c.7802A>G (p.Gln2601Arg)
|
rs1455161701
|
|
|
NM_000138.5(FBN1):c.7803G>A (p.Gln2601=)
|
|
|
|
NM_000138.5(FBN1):c.7804T>C (p.Trp2602Arg)
|
rs2042933803
|
|
|
NM_000138.5(FBN1):c.782A>T (p.Asn261Ile)
|
rs1555401459
|
|
|
NM_000138.5(FBN1):c.7858G>C (p.Ala2620Pro)
|
|
|
|
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val)
|
rs2042898824
|
|
|
NM_000138.5(FBN1):c.7881G>A (p.Gly2627=)
|
rs397515858
|
|
|
NM_000138.5(FBN1):c.7895T>C (p.Met2632Thr)
|
|
|
|
NM_000138.5(FBN1):c.7901C>G (p.Pro2634Arg)
|
rs2042898369
|
|
|
NM_000138.5(FBN1):c.7915T>C (p.Tyr2639His)
|
rs2042898051
|
|
|
NM_000138.5(FBN1):c.7918G>A (p.Glu2640Lys)
|
rs2042897958
|
|
|
NM_000138.5(FBN1):c.7922A>C (p.Gln2641Pro)
|
rs2141214864
|
|
|
NM_000138.5(FBN1):c.7935A>G (p.Gly2645=)
|
rs778534209
|
|
|
NM_000138.5(FBN1):c.7938C>T (p.Cys2646=)
|
rs2042897617
|
|
|
NM_000138.5(FBN1):c.7941A>G (p.Gln2647=)
|
rs1566889905
|
|
|
NM_000138.5(FBN1):c.7973C>G (p.Pro2658Arg)
|
rs1348007486
|
|
|
NM_000138.5(FBN1):c.7973C>T (p.Pro2658Leu)
|
rs1348007486
|
|
|
NM_000138.5(FBN1):c.7991C>T (p.Ser2664Phe)
|
rs2042896586
|
|
|
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser)
|
rs763173031
|
|
|
NM_000138.5(FBN1):c.799G>C (p.Gly267Arg)
|
rs2141353715
|
|
|
NM_000138.5(FBN1):c.8005G>A (p.Gly2669Ser)
|
rs794728281
|
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
|
NM_000138.5(FBN1):c.8017G>A (p.Gly2673Ser)
|
rs894550222
|
|
|
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe)
|
rs1464168530
|
|
|
NM_000138.5(FBN1):c.8068A>T (p.Met2690Leu)
|
rs2042873822
|
|
|
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser)
|
rs951026080
|
|
|
NM_000138.5(FBN1):c.8080C>G (p.Arg2694Gly)
|
rs200309328
|
|
|
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln)
|
rs371375126
|
|
|
NM_000138.5(FBN1):c.8082A>C (p.Arg2694=)
|
rs1597507799
|
|
|
NM_000138.5(FBN1):c.808G>C (p.Glu270Gln)
|
rs2043994842
|
|
|
NM_000138.5(FBN1):c.8101G>A (p.Val2701Ile)
|
rs753925682
|
|
|
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val)
|
rs794728284
|
|
|
NM_000138.5(FBN1):c.8126C>T (p.Ser2709Leu)
|
rs2042873190
|
|
|
NM_000138.5(FBN1):c.8140G>A (p.Ala2714Thr)
|
rs766170041
|
|
|
NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=)
|
rs112642323
|
|
|
NM_000138.5(FBN1):c.8157G>A (p.Lys2719=)
|
rs2042872810
|
|
|
NM_000138.5(FBN1):c.815A>G (p.Lys272Arg)
|
rs777025292
|
|
|
NM_000138.5(FBN1):c.8169C>T (p.Tyr2723=)
|
rs768231402
|
|
|
NM_000138.5(FBN1):c.8180G>A (p.Gly2727Asp)
|
rs2042872481
|
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
|
NM_000138.5(FBN1):c.8197A>G (p.Thr2733Ala)
|
|
|
|
NM_000138.5(FBN1):c.8207C>G (p.Thr2736Ser)
|
rs2141211539
|
|
|
NM_000138.5(FBN1):c.8208T>C (p.Thr2736=)
|
rs2042872033
|
|
|
NM_000138.5(FBN1):c.821C>A (p.Pro274His)
|
rs1085307537
|
|
|
NM_000138.5(FBN1):c.8226+3G>A
|
rs764898769
|
|
|
NM_000138.5(FBN1):c.8226+6T>A
|
|
|
|
NM_000138.5(FBN1):c.8227G>A (p.Asp2743Asn)
|
|
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
|
NM_000138.5(FBN1):c.8236G>A (p.Glu2746Lys)
|
rs2042862302
|
|
|
NM_000138.5(FBN1):c.8239A>G (p.Thr2747Ala)
|
rs2042862271
|
|
|
NM_000138.5(FBN1):c.8249A>C (p.Asn2750Thr)
|
|
|
|
NM_000138.5(FBN1):c.8255G>A (p.Ser2752Asn)
|
rs2042861973
|
|
|
NM_000138.5(FBN1):c.8263A>G (p.Ser2755Gly)
|
rs2141210090
|
|
|
NM_000138.5(FBN1):c.8267G>T (p.Trp2756Leu)
|
rs397515861
|
|
|
NM_000138.5(FBN1):c.8301T>C (p.Asn2767=)
|
rs1402600765
|
|
|
NM_000138.5(FBN1):c.8361G>C (p.Leu2787=)
|
rs2042860148
|
|
|
NM_000138.5(FBN1):c.8365A>C (p.Asn2789His)
|
rs2042859991
|
|
|
NM_000138.5(FBN1):c.837T>A (p.Leu279=)
|
rs2043994296
|
|
|
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His)
|
rs868087455
|
|
|
NM_000138.5(FBN1):c.8432G>A (p.Gly2811Glu)
|
rs2042858918
|
|
|
NM_000138.5(FBN1):c.843A>T (p.Glu281Asp)
|
rs772218768
|
|
|
NM_000138.5(FBN1):c.8468T>C (p.Val2823Ala)
|
rs2042858248
|
|
|
NM_000138.5(FBN1):c.846G>A (p.Val282=)
|
rs2043994063
|
|
|
NM_000138.5(FBN1):c.8487A>G (p.Leu2829=)
|
rs2042857927
|
|
|
NM_000138.5(FBN1):c.8493C>G (p.Ile2831Met)
|
rs2042857820
|
|
|
NM_000138.5(FBN1):c.8496T>C (p.Ser2832=)
|
rs1216871823
|
|
|
NM_000138.5(FBN1):c.8498G>C (p.Ser2833Thr)
|
rs549604448
|
|
|
NM_000138.5(FBN1):c.8501C>T (p.Thr2834Ile)
|
rs2042857660
|
|
|
NM_000138.5(FBN1):c.8503C>A (p.Pro2835Thr)
|
|
|
|
NM_000138.5(FBN1):c.8545T>A (p.Tyr2849Asn)
|
rs2042856906
|
|
|
NM_000138.5(FBN1):c.8554G>A (p.Asp2852Asn)
|
rs2141209534
|
|
|
NM_000138.5(FBN1):c.8567G>A (p.Gly2856Asp)
|
rs2141209510
|
|
|
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly)
|
rs368599541
|
|
|
NM_000138.5(FBN1):c.8586G>A (p.Leu2862=)
|
rs2042856515
|
|
|
NM_000138.5(FBN1):c.8595A>C (p.Lys2865Asn)
|
rs2042856403
|
|
|
NM_000138.5(FBN1):c.8608C>T (p.Leu2870Phe)
|
rs2042856175
|
|
|
NM_000138.5(FBN1):c.862G>A (p.Asp288Asn)
|
|
|
|
NM_000138.5(FBN1):c.863-10del
|
rs748672558
|
|
|
NM_000138.5(FBN1):c.866T>C (p.Ile289Thr)
|
|
|
|
NM_000138.5(FBN1):c.916A>G (p.Asn306Asp)
|
rs2043912750
|
|
|
NM_000138.5(FBN1):c.926G>A (p.Ser309Asn)
|
rs2043912515
|
|
|
NM_000138.5(FBN1):c.934T>C (p.Phe312Leu)
|
rs1566919646
|
|
|
NM_000138.5(FBN1):c.949C>T (p.Pro317Ser)
|
rs764470069
|
|
|
NM_000138.5(FBN1):c.963C>G (p.Thr321=)
|
rs767914958
|
|
|
NM_000138.5(FBN1):c.971A>G (p.Asp324Gly)
|
rs763079155
|
|
|
NM_000138.5(FBN1):c.971A>T (p.Asp324Val)
|
rs763079155
|
|
|
NM_000138.5(FBN1):c.976A>G (p.Thr326Ala)
|
rs760637902
|
|
|
NM_000138.5(FBN1):c.978C>T (p.Thr326=)
|
rs2043911295
|
|
|
NM_000138.5(FBN1):c.989-10_989-8delinsATA
|
rs2043848077
|
|
|
NM_000138.5(FBN1):c.989-5C>A
|
rs2043847966
|
|
|
NM_000138.5(FBN1):c.989-6C>A
|
|
|
|
NM_000138.5(FBN1):c.989A>T (p.Asp330Val)
|
|
|
|
NM_000218.3(KCNQ1):c.*4G>A
|
rs1157661362
|
|
|
NM_000218.3(KCNQ1):c.*6G>A
|
rs1349244002
|
|
|
NM_000218.3(KCNQ1):c.*7del
|
rs756899141
|
|
|
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu)
|
rs12720459
|
|
|
NM_000218.3(KCNQ1):c.1026C>G (p.Leu342=)
|
|
|
|
NM_000218.3(KCNQ1):c.1033-12A>C
|
rs200423553
|
|
|
NM_000218.3(KCNQ1):c.1033-1_1117dup
|
|
|
|
NM_000218.3(KCNQ1):c.1043_1054delinsCA (p.Gly348fs)
|
rs1848574802
|
|
|
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)
|
rs397508072
|
|
|
NM_000218.3(KCNQ1):c.1070A>G (p.Gln357Arg)
|
rs199473405
|
|
|
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)
|
rs397508075
|
|
|
NM_000218.3(KCNQ1):c.1079G>A (p.Arg360Lys)
|
rs199473407
|
|
|
NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu)
|
rs199473410
|
|
|
NM_000218.3(KCNQ1):c.1098G>A (p.Arg366=)
|
rs1848576720
|
|
|
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His)
|
rs199472767
|
|
|
NM_000218.3(KCNQ1):c.1128+6G>A
|
rs558595162
|
|
|
NM_000218.3(KCNQ1):c.1129-8G>A
|
rs200612600
|
|
|
NM_000218.3(KCNQ1):c.1129-8G>T
|
rs200612600
|
|
|
NM_000218.3(KCNQ1):c.1134A>G (p.Ala378=)
|
|
|
|
NM_000218.3(KCNQ1):c.1134A>T (p.Ala378=)
|
rs2133758086
|
|
|
NM_000218.3(KCNQ1):c.1139G>A (p.Arg380Lys)
|
rs1848609806
|
|
|
NM_000218.3(KCNQ1):c.1143C>G (p.Cys381Trp)
|
rs1848610060
|
|
|
NM_000218.3(KCNQ1):c.1162G>A (p.Asp388Asn)
|
rs537637760
|
|
|
NM_000218.3(KCNQ1):c.1177A>G (p.Lys393Glu)
|
rs1848611273
|
|
|
NM_000218.3(KCNQ1):c.1178A>T (p.Lys393Met)
|
rs199472775
|
|
|
NM_000218.3(KCNQ1):c.1181T>C (p.Ile394Thr)
|
rs1437113154
|
|
|
NM_000218.3(KCNQ1):c.1193A>G (p.Lys398Arg)
|
rs199472777
|
|
|
NM_000218.3(KCNQ1):c.1195G>T (p.Ala399Ser)
|
rs571899254
|
|
|
NM_000218.3(KCNQ1):c.1196C>G (p.Ala399Gly)
|
rs876657836
|
|
|
NM_000218.3(KCNQ1):c.1196C>T (p.Ala399Val)
|
rs876657836
|
|
|
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs)
|
rs397508082
|
|
|
NM_000218.3(KCNQ1):c.1211C>G (p.Thr404Ser)
|
rs1490239200
|
|
|
NM_000218.3(KCNQ1):c.1213C>T (p.Leu405=)
|
rs1848613138
|
|
|
NM_000218.3(KCNQ1):c.1220C>T (p.Ser407Leu)
|
|
|
|
NM_000218.3(KCNQ1):c.1224C>T (p.Pro408=)
|
rs1342663112
|
|
|
NM_000218.3(KCNQ1):c.1248G>A (p.Val416=)
|
rs1848613980
|
|
|
NM_000218.3(KCNQ1):c.1249G>A (p.Val417Met)
|
rs267607197
|
|
|
NM_000218.3(KCNQ1):c.1251+2T>C
|
rs794728528
|
|
|
NM_000218.3(KCNQ1):c.1251+3G>A
|
rs1848614141
|
|
|
NM_000218.3(KCNQ1):c.1252-1G>A
|
|
|
|
NM_000218.3(KCNQ1):c.1252-3del
|
rs12720450
|
|
|
NM_000218.3(KCNQ1):c.1252-3dup
|
rs12720450
|
|
|
NM_000218.3(KCNQ1):c.1252-5T>C
|
rs1848628616
|
|
|
NM_000218.3(KCNQ1):c.1252-8T>C
|
rs761247239
|
|
|
NM_000218.3(KCNQ1):c.1256A>G (p.Lys419Arg)
|
rs757328965
|
|
|
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs)
|
rs397508083
|
|
|
NM_000218.3(KCNQ1):c.1266G>A (p.Lys422=)
|
rs1589969380
|
|
|
NM_000218.3(KCNQ1):c.1284C>T (p.Asp428=)
|
rs1848629586
|
|
|
NM_000218.3(KCNQ1):c.1290G>A (p.Gly430=)
|
rs1848629909
|
|
|
NM_000218.3(KCNQ1):c.1290_1301del (p.Val431_Gly434del)
|
rs750178990
|
|
|
NM_000218.3(KCNQ1):c.1291dup (p.Val431fs)
|
rs397508085
|
|
|
NM_000218.3(KCNQ1):c.1301G>C (p.Gly434Ala)
|
|
|
|
NM_000218.3(KCNQ1):c.1303G>A (p.Glu435Lys)
|
rs1848630440
|
|
|
NM_000218.3(KCNQ1):c.1320C>A (p.Val440=)
|
rs781151116
|
|
|
NM_000218.3(KCNQ1):c.1320C>T (p.Val440=)
|
rs781151116
|
|
|
NM_000218.3(KCNQ1):c.1330del (p.Thr444fs)
|
rs1848631108
|
|
|
NM_000218.3(KCNQ1):c.1331C>A (p.Thr444Lys)
|
|
|
|
NM_000218.3(KCNQ1):c.1332G>T (p.Thr444=)
|
rs144985256
|
|
|
NM_000218.3(KCNQ1):c.1338C>A (p.Asp446Glu)
|
rs199472780
|
|
|
NM_000218.3(KCNQ1):c.1338C>G (p.Asp446Glu)
|
rs199472780
|
|
|
NM_000218.3(KCNQ1):c.1340C>A (p.Pro447His)
|
rs143149582
|
|
|
NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln)
|
rs12720449
|
|
|
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)
|
rs12720449
|
|
|
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu)
|
rs12720449
|
|
|
NM_000218.3(KCNQ1):c.1348G>C (p.Glu450Gln)
|
|
|
|
NM_000218.3(KCNQ1):c.1354del (p.Arg452fs)
|
rs2133760795
|
|
|
NM_000218.3(KCNQ1):c.1356del (p.Leu453fs)
|
rs1848632145
|
|
|
NM_000218.3(KCNQ1):c.1374C>T (p.Val458=)
|
rs778598703
|
|
|
NM_000218.3(KCNQ1):c.1387A>G (p.Ser463Gly)
|
rs1848632977
|
|
|
NM_000218.3(KCNQ1):c.1393+1G>A
|
|
|
|
NM_000218.3(KCNQ1):c.1394-13A>G
|
rs747187696
|
|
|
NM_000218.3(KCNQ1):c.1394-13_1394-12del
|
rs550005589
|
|
|
NM_000218.3(KCNQ1):c.1394-1G>T
|
rs775537394
|
|
|
NM_000218.3(KCNQ1):c.1394-6C>A
|
rs759714698
|
|
|
NM_000218.3(KCNQ1):c.1394-8C>T
|
rs371488379
|
|
|
NM_000218.3(KCNQ1):c.1409C>T (p.Thr470Ile)
|
rs1849964917
|
|
|
NM_000218.3(KCNQ1):c.1411C>A (p.Leu471Met)
|
rs1849964971
|
|
|
NM_000218.3(KCNQ1):c.1427T>C (p.Met476Thr)
|
rs767215260
|
|
|
NM_000218.3(KCNQ1):c.1429C>T (p.Pro477Ser)
|
rs1162587598
|
|
|
NM_000218.3(KCNQ1):c.1437C>A (p.Phe479Leu)
|
rs1849965957
|
|
|
NM_000218.3(KCNQ1):c.1442G>A (p.Arg481Lys)
|
rs1423068748
|
|
|
NM_000218.3(KCNQ1):c.1443A>G (p.Arg481=)
|
rs1849966292
|
|
|
NM_000218.3(KCNQ1):c.1443_1461dup (p.Asp488fs)
|
rs1849966157
|
|
|
NM_000218.3(KCNQ1):c.1448A>G (p.Asn483Ser)
|
rs866469017
|
|
|
NM_000218.3(KCNQ1):c.1454T>C (p.Phe485Ser)
|
rs1335411338
|
|
|
NM_000218.3(KCNQ1):c.1467G>C (p.Leu489=)
|
rs1849967508
|
|
|
NM_000218.3(KCNQ1):c.1469A>G (p.Asp490Gly)
|
rs1849967564
|
|
|
NM_000218.3(KCNQ1):c.1478G>A (p.Gly493Glu)
|
|
|
|
NM_000218.3(KCNQ1):c.1480G>T (p.Glu494Ter)
|
|
|
|
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs)
|
rs397508090
|
|
|
NM_000218.3(KCNQ1):c.1487T>A (p.Leu496Gln)
|
rs1849967991
|
|
|
NM_000218.3(KCNQ1):c.1493C>T (p.Thr498Ile)
|
rs1849968254
|
|
|
NM_000218.3(KCNQ1):c.1494A>G (p.Thr498=)
|
rs2133856204
|
|
|
NM_000218.3(KCNQ1):c.1498A>C (p.Ile500Leu)
|
rs189794855
|
|
|
NM_000218.3(KCNQ1):c.1514+5G>A
|
rs2133856267
|
|
|
NM_000218.3(KCNQ1):c.1515-13C>G
|
rs2133980915
|
|
|
NM_000218.3(KCNQ1):c.1515-3C>T
|
rs1564886312
|
|
|
NM_000218.3(KCNQ1):c.1521G>A (p.Arg507=)
|
rs2133980949
|
|
|
NM_000218.3(KCNQ1):c.1523A>G (p.Glu508Gly)
|
|
|
|
NM_000218.3(KCNQ1):c.1531C>T (p.Arg511Trp)
|
rs199472785
|
|
|
NM_000218.3(KCNQ1):c.1539C>G (p.Thr513=)
|
rs1846542304
|
|
|
NM_000218.3(KCNQ1):c.1583A>G (p.Lys528Arg)
|
rs1846543781
|
|
|
NM_000218.3(KCNQ1):c.1590+2T>A
|
rs2133981154
|
|
|
NM_000218.3(KCNQ1):c.1590G>A (p.Gln530=)
|
rs1846543956
|
|
|
NM_000218.3(KCNQ1):c.1595C>T (p.Ala532Val)
|
rs867549263
|
|
|
NM_000218.3(KCNQ1):c.1596G>T (p.Ala532=)
|
rs558452873
|
|
|
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln)
|
rs199472794
|
|
|
NM_000218.3(KCNQ1):c.1632G>C (p.Gln544His)
|
|
|
|
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu)
|
rs199473480
|
|
|
NM_000218.3(KCNQ1):c.1640A>G (p.Gln547Arg)
|
rs199472798
|
|
|
NM_000218.3(KCNQ1):c.1654C>A (p.Leu552Ile)
|
rs780896003
|
|
|
NM_000218.3(KCNQ1):c.1660G>T (p.Val554Leu)
|
rs794728533
|
|
|
NM_000218.3(KCNQ1):c.1662G>A (p.Val554=)
|
rs533146777
|
|
|
NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser)
|
rs120074185
|
|
|
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)
|
rs120074185
|
|
|
NM_000218.3(KCNQ1):c.1686del
|
rs794728562
|
|
|
NM_000218.3(KCNQ1):c.1689G>A (p.Leu563=)
|
|
|
|
NM_000218.3(KCNQ1):c.1697C>A (p.Ser566Tyr)
|
rs199472804
|
|
|
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)
|
rs199472805
|
|
|
NM_000218.3(KCNQ1):c.1707G>A (p.Lys569=)
|
rs1288914203
|
|
|
NM_000218.3(KCNQ1):c.1713A>G (p.Ser571=)
|
rs1846718527
|
|
|
NM_000218.3(KCNQ1):c.1720A>G (p.Ile574Val)
|
rs761947465
|
|
|
NM_000218.3(KCNQ1):c.1721del (p.Ile574fs)
|
|
|
|
NM_000218.3(KCNQ1):c.1733-13T>C
|
rs1846740433
|
|
|
NM_000218.3(KCNQ1):c.1733-4A>G
|
rs1359690225
|
|
|
NM_000218.3(KCNQ1):c.1733-8C>T
|
rs1341796131
|
|
|
NM_000218.3(KCNQ1):c.1733-9C>A
|
rs897070017
|
|
|
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=)
|
rs569971691
|
|
|
NM_000218.3(KCNQ1):c.1762A>G (p.Ile588Val)
|
rs794728536
|
|
|
NM_000218.3(KCNQ1):c.1770C>A (p.Ala590=)
|
rs1590082970
|
|
|
NM_000218.3(KCNQ1):c.1771C>T (p.Arg591Cys)
|
rs199473483
|
|
|
NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs)
|
rs2133992401
|
|
|
NM_000218.3(KCNQ1):c.1795G>T (p.Val599Leu)
|
rs1848361040
|
|
|
NM_000218.3(KCNQ1):c.1829C>A (p.Thr610Asn)
|
rs794728542
|
|
|
NM_000218.3(KCNQ1):c.1837C>T (p.Leu613Phe)
|
rs767014889
|
|
|
NM_000218.3(KCNQ1):c.1846C>T (p.Leu616=)
|
|
|
|
NM_000218.3(KCNQ1):c.1858C>G (p.His620Asp)
|
rs2134096944
|
|
|
NM_000218.3(KCNQ1):c.1863_1877dup (p.Gly626_Ser627insGlySerThrProGly)
|
rs2134096959
|
|
|
NM_000218.3(KCNQ1):c.1871C>T (p.Thr624Ile)
|
|
|
|
NM_000218.3(KCNQ1):c.1875C>G (p.Pro625=)
|
rs112113213
|
|
|
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)
|
rs112113213
|
|
|
NM_000218.3(KCNQ1):c.1876_1893del (p.Gly626_Pro631del)
|
rs397508102
|
|
|
NM_000218.3(KCNQ1):c.1884C>G (p.Gly628=)
|
rs769848998
|
|
|
NM_000218.3(KCNQ1):c.1892C>A (p.Pro631His)
|
rs1432436411
|
|
|
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
|
rs397508103
|
|
|
NM_000218.3(KCNQ1):c.1893del (p.Arg632fs)
|
rs397508104
|
|
|
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)
|
rs397508104
|
|
|
NM_000218.3(KCNQ1):c.1906dup (p.Ala636fs)
|
rs1464992494
|
|
|
NM_000218.3(KCNQ1):c.1911C>T (p.His637=)
|
rs2134097230
|
|
|
NM_000218.3(KCNQ1):c.1916C>T (p.Thr639Ile)
|
|
|
|
NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg)
|
rs1410404016
|
|
|
NM_000218.3(KCNQ1):c.1926C>A (p.Cys642Ter)
|
rs12720454
|
|
|
NM_000218.3(KCNQ1):c.1928G>A (p.Gly643Asp)
|
rs1848367520
|
|
|
NM_000218.3(KCNQ1):c.1938C>A (p.Gly646=)
|
rs184844767
|
|
|
NM_000218.3(KCNQ1):c.1951G>A (p.Glu651Lys)
|
rs1848368295
|
|
|
NM_000218.3(KCNQ1):c.1956C>T (p.Leu652=)
|
|
|
|
NM_000218.3(KCNQ1):c.1960C>T (p.Leu654=)
|
rs1848368654
|
|
|
NM_000218.3(KCNQ1):c.1968C>T (p.Ser656=)
|
rs1848369004
|
|
|
NM_000218.3(KCNQ1):c.1970A>G (p.Asn657Ser)
|
rs552087428
|
|
|
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)
|
rs11601907
|
|
|
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)
|
rs11601907
|
|
|
NM_000218.3(KCNQ1):c.2028C>T (p.Ser676=)
|
rs2134097716
|
|
|
NM_000218.3(KCNQ1):c.387-3C>T
|
rs1460161223
|
|
|
NM_000218.3(KCNQ1):c.387-4G>T
|
|
|
|
NM_000218.3(KCNQ1):c.410T>C (p.Leu137Pro)
|
|
|
|
NM_000218.3(KCNQ1):c.426G>C (p.Leu142=)
|
|
|
|
NM_000218.3(KCNQ1):c.436G>A (p.Glu146Lys)
|
rs199472688
|
|
|
NM_000218.3(KCNQ1):c.443del (p.Tyr148fs)
|
rs878854347
|
|
|
NM_000218.3(KCNQ1):c.465T>A (p.Thr155=)
|
rs769788538
|
|
|
NM_000218.3(KCNQ1):c.477+4C>G
|
rs763599970
|
|
|
NM_000218.3(KCNQ1):c.478-7C>T
|
rs372906106
|
|
|
NM_000218.3(KCNQ1):c.478-8C>G
|
rs150711844
|
|
|
NM_000218.3(KCNQ1):c.483C>T (p.Ile161=)
|
rs146981549
|
|
|
NM_000218.3(KCNQ1):c.491T>C (p.Val164Ala)
|
rs1848316801
|
|
|
NM_000218.3(KCNQ1):c.494T>C (p.Val165Ala)
|
rs1848317004
|
|
|
NM_000218.3(KCNQ1):c.498C>T (p.Phe166=)
|
rs1848317253
|
|
|
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)
|
rs139042529
|
|
|
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=)
|
rs139042529
|
|
|
NM_000218.3(KCNQ1):c.519C>A (p.Val173=)
|
rs140857754
|
|
|
NM_000218.3(KCNQ1):c.531C>T (p.Ser177=)
|
rs757713526
|
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
|
NM_000218.3(KCNQ1):c.553G>C (p.Val185Leu)
|
rs749351255
|
|
|
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)
|
rs794728568
|
|
|
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)
|
rs120074178
|
|
|
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)
|
rs397508118
|
|
|
NM_000218.3(KCNQ1):c.585del (p.Lys196fs)
|
rs397508120
|
|
|
NM_000218.3(KCNQ1):c.601A>G (p.Ile201Val)
|
|
|
|
NM_000218.3(KCNQ1):c.604+1G>A
|
rs752670256
|
|
|
NM_000218.3(KCNQ1):c.605-14C>T
|
rs1284195790
|
|
|
NM_000218.3(KCNQ1):c.628A>G (p.Met210Val)
|
rs1848330783
|
|
|
NM_000218.3(KCNQ1):c.630G>A (p.Met210Ile)
|
rs776811872
|
|
|
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=)
|
rs146350010
|
|
|
NM_000218.3(KCNQ1):c.653A>C (p.Lys218Thr)
|
rs1848331549
|
|
|
NM_000218.3(KCNQ1):c.663G>A (p.Val221=)
|
rs779859587
|
|
|
NM_000218.3(KCNQ1):c.678C>T (p.Ala226=)
|
rs771489129
|
|
|
NM_000218.3(KCNQ1):c.682A>C (p.Arg228=)
|
|
|
|
NM_000218.3(KCNQ1):c.683+4C>T
|
rs554698776
|
|
|
NM_000218.3(KCNQ1):c.684-4G>A
|
rs750965939
|
|
|
NM_000218.3(KCNQ1):c.684-4G>T
|
rs750965939
|
|
|
NM_000218.3(KCNQ1):c.685G>A (p.Gly229Ser)
|
|
|
|
NM_000218.3(KCNQ1):c.690C>A (p.Ile230=)
|
rs751869667
|
|
|
NM_000218.3(KCNQ1):c.723C>T (p.Val241=)
|
rs1358413257
|
|
|
NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter)
|
rs1554893091
|
|
|
NM_000218.3(KCNQ1):c.741C>T (p.Thr247=)
|
|
|
|
NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs)
|
rs1221462654
|
|
|
NM_000218.3(KCNQ1):c.754G>A (p.Gly252Ser)
|
|
|
|
NM_000218.3(KCNQ1):c.774C>T (p.His258=)
|
rs1848345991
|
|
|
NM_000218.3(KCNQ1):c.777C>T (p.Arg259=)
|
rs1438923096
|
|
|
NM_000218.3(KCNQ1):c.780+6T>C
|
rs1848346390
|
|
|
NM_000218.3(KCNQ1):c.780+7_780+15del
|
|
|
|
NM_000218.3(KCNQ1):c.804C>A (p.Ile268=)
|
rs373227792
|
|
|
NM_000218.3(KCNQ1):c.825C>G (p.Phe275Leu)
|
|
|
|
NM_000218.3(KCNQ1):c.831G>A (p.Ser277=)
|
rs761225039
|
|
|
NM_000218.3(KCNQ1):c.837T>C (p.Phe279=)
|
rs2133732725
|
|
|
NM_000218.3(KCNQ1):c.839T>A (p.Val280Glu)
|
rs199473462
|
|
|
NM_000218.3(KCNQ1):c.840G>T (p.Val280=)
|
rs1554893236
|
|
|
NM_000218.3(KCNQ1):c.844C>G (p.Leu282Val)
|
rs979241598
|
|
|
NM_000218.3(KCNQ1):c.852G>A (p.Glu284=)
|
rs1271929222
|
|
|
NM_000218.3(KCNQ1):c.859G>A (p.Ala287Thr)
|
rs765665086
|
|
|
NM_000218.3(KCNQ1):c.859G>T (p.Ala287Ser)
|
rs765665086
|
|
|
NM_000218.3(KCNQ1):c.860C>T (p.Ala287Val)
|
rs199472735
|
|
|
NM_000218.3(KCNQ1):c.862G>A (p.Val288Met)
|
rs946704016
|
|
|
NM_000218.3(KCNQ1):c.862_880del (p.Val288fs)
|
rs397508129
|
|
|
NM_000218.3(KCNQ1):c.873A>G (p.Ser291=)
|
rs1848362899
|
|
|
NM_000218.3(KCNQ1):c.879C>A (p.Arg293=)
|
rs181106858
|
|
|
NM_000218.3(KCNQ1):c.879C>T (p.Arg293=)
|
rs181106858
|
|
|
NM_000218.3(KCNQ1):c.898G>T (p.Ala300Ser)
|
rs120074187
|
|
|
NM_000218.3(KCNQ1):c.906G>A (p.Ala302=)
|
rs200762150
|
|
|
NM_000218.3(KCNQ1):c.906G>T (p.Ala302=)
|
rs200762150
|
|
|
NM_000218.3(KCNQ1):c.918G>A (p.Gly306=)
|
|
|
|
NM_000218.3(KCNQ1):c.919G>A (p.Val307Met)
|
rs120074195
|
|
|
NM_000218.3(KCNQ1):c.928G>A (p.Val310Ile)
|
rs199472745
|
|
|
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile)
|
rs120074182
|
|
|
NM_000218.3(KCNQ1):c.936C>T (p.Thr312=)
|
rs753939458
|
|
|
NM_000218.3(KCNQ1):c.954G>A (p.Lys318=)
|
|
|
|
NM_000218.3(KCNQ1):c.960C>T (p.Pro320=)
|
|
|
|
NM_000218.3(KCNQ1):c.970G>A (p.Val324Ile)
|
rs1848536066
|
|
|
NM_000218.3(KCNQ1):c.970G>T (p.Val324Phe)
|
rs1848536066
|
|
|
NM_000218.3(KCNQ1):c.986C>T (p.Ala329Val)
|
rs200436951
|
|
|
NM_000238.4(KCNH2):c.-10T>G
|
|
|
|
NM_000238.4(KCNH2):c.-11A>G
|
rs1802018426
|
|
|
NM_000238.4(KCNH2):c.-28_-7del
|
rs1802018343
|
|
|
NM_000238.4(KCNH2):c.-29GGCCCGCCC[1]
|
rs754605400
|
|
|
NM_000238.4(KCNH2):c.-29GGCCCGCCC[3]
|
rs754605400
|
|
|
NM_000238.4(KCNH2):c.-3A>G
|
rs1226942646
|
|
|
NM_000238.4(KCNH2):c.1009A>G (p.Thr337Ala)
|
rs1584863947
|
|
|
NM_000238.4(KCNH2):c.1017C>T (p.Asn339=)
|
rs1801410026
|
|
|
NM_000238.4(KCNH2):c.1018T>C (p.Phe340Leu)
|
rs2116998146
|
|
|
NM_000238.4(KCNH2):c.1026C>T (p.Asp342=)
|
rs1354150388
|
|
|
NM_000238.4(KCNH2):c.102T>C (p.Ala34=)
|
rs1309776386
|
|
|
NM_000238.4(KCNH2):c.1041C>T (p.Pro347=)
|
|
|
|
NM_000238.4(KCNH2):c.1053G>A (p.Ser351=)
|
rs766203252
|
|
|
NM_000238.4(KCNH2):c.1056C>T (p.Pro352=)
|
rs1554427342
|
|
|
NM_000238.4(KCNH2):c.1057A>T (p.Thr353Ser)
|
|
|
|
NM_000238.4(KCNH2):c.1073T>A (p.Ile358Asn)
|
rs2116997537
|
|
|
NM_000238.4(KCNH2):c.1095G>A (p.Glu365=)
|
|
|
|
NM_000238.4(KCNH2):c.1097G>A (p.Arg366Gln)
|
rs1372751640
|
|
|
NM_000238.4(KCNH2):c.1101C>G (p.Thr367=)
|
rs1563167811
|
|
|
NM_000238.4(KCNH2):c.1128+1802C>G
|
rs199794297
|
|
|
NM_000238.4(KCNH2):c.1128+1821G>T
|
rs1801336913
|
|
|
NM_000238.4(KCNH2):c.1128+1838G>C
|
rs1310476998
|
|
|
NM_000238.4(KCNH2):c.1128+1866G>T
|
rs764462112
|
|
|
NM_000238.4(KCNH2):c.1128+1872A>T
|
rs1801332643
|
|
|
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)
|
rs770047651
|
|
|
NM_000238.4(KCNH2):c.1131C>T (p.Val377=)
|
rs1251473864
|
|
|
NM_000238.4(KCNH2):c.1134G>A (p.Leu378=)
|
rs1801236226
|
|
|
NM_000238.4(KCNH2):c.1149C>A (p.Asp383Glu)
|
rs201995634
|
|
|
NM_000238.4(KCNH2):c.1155G>T (p.Leu385=)
|
rs772410175
|
|
|
NM_000238.4(KCNH2):c.1168C>T (p.Leu390=)
|
|
|
|
NM_000238.4(KCNH2):c.1170G>T (p.Leu390=)
|
|
|
|
NM_000238.4(KCNH2):c.1186C>T (p.His396Tyr)
|
rs866464373
|
|
|
NM_000238.4(KCNH2):c.1225G>A (p.Val409Met)
|
rs539146547
|
|
|
NM_000238.4(KCNH2):c.1239C>T (p.Leu413=)
|
|
|
|
NM_000238.4(KCNH2):c.1240A>G (p.Ile414Val)
|
rs1801229604
|
|
|
NM_000238.4(KCNH2):c.1242C>T (p.Ile414=)
|
rs766849710
|
|
|
NM_000238.4(KCNH2):c.1311A>G (p.Glu437=)
|
rs2116971640
|
|
|
NM_000238.4(KCNH2):c.1320G>A (p.Pro440=)
|
rs144926928
|
|
|
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)
|
rs144926928
|
|
|
NM_000238.4(KCNH2):c.1332G>C (p.Glu444Asp)
|
rs9770044
|
|
|
NM_000238.4(KCNH2):c.1342G>A (p.Ala448Thr)
|
rs767723985
|
|
|
NM_000238.4(KCNH2):c.1342G>T (p.Ala448Ser)
|
rs767723985
|
|
|
NM_000238.4(KCNH2):c.1357G>A (p.Ala453Thr)
|
rs1801221411
|
|
|
NM_000238.4(KCNH2):c.135C>T (p.Asn45=)
|
rs1422251865
|
|
|
NM_000238.4(KCNH2):c.1380C>T (p.Asp460=)
|
|
|
|
NM_000238.4(KCNH2):c.1391T>C (p.Ile464Thr)
|
rs1801219752
|
|
|
NM_000238.4(KCNH2):c.1410C>T (p.Asn470=)
|
rs1801218387
|
|
|
NM_000238.4(KCNH2):c.1442A>T (p.Glu481Val)
|
|
|
|
NM_000238.4(KCNH2):c.1460G>C (p.Gly487Ala)
|
rs1801215399
|
|
|
NM_000238.4(KCNH2):c.1467C>A (p.Ile489=)
|
rs740952
|
|
|
NM_000238.4(KCNH2):c.1467C>T (p.Ile489=)
|
rs740952
|
|
|
NM_000238.4(KCNH2):c.147C>T (p.Cys49=)
|
rs794728410
|
|
|
NM_000238.4(KCNH2):c.1500C>A (p.Ile500=)
|
rs147126965
|
|
|
NM_000238.4(KCNH2):c.1500C>T (p.Ile500=)
|
rs147126965
|
|
|
NM_000238.4(KCNH2):c.1509G>A (p.Val503=)
|
rs967889413
|
|
|
NM_000238.4(KCNH2):c.1518C>A (p.Ile506=)
|
rs1418058264
|
|
|
NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn)
|
rs370637245
|
|
|
NM_000238.4(KCNH2):c.1530G>A (p.Leu510=)
|
rs1191527807
|
|
|
NM_000238.4(KCNH2):c.1536C>T (p.Ile512=)
|
rs768240749
|
|
|
NM_000238.4(KCNH2):c.1558-10T>C
|
rs1801185840
|
|
|
NM_000238.4(KCNH2):c.1558-10_1558-5dup
|
rs1801185426
|
|
|
NM_000238.4(KCNH2):c.1558-4C>T
|
rs1801185176
|
|
|
NM_000238.4(KCNH2):c.1558-7C>G
|
|
|
|
NM_000238.4(KCNH2):c.1564G>A (p.Gly522Arg)
|
rs199473514
|
|
|
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg)
|
rs199472842
|
|
|
NM_000238.4(KCNH2):c.1597G>C (p.Val533Leu)
|
rs2116964376
|
|
|
NM_000238.4(KCNH2):c.15G>A (p.Arg5=)
|
rs1690292463
|
|
|
NM_000238.4(KCNH2):c.1609C>T (p.Arg537Trp)
|
rs199472917
|
|
|
NM_000238.4(KCNH2):c.1622G>A (p.Arg541His)
|
rs1297393452
|
|
|
NM_000238.4(KCNH2):c.1629dup (p.Glu544fs)
|
rs2116963916
|
|
|
NM_000238.4(KCNH2):c.1638C>T (p.Gly546=)
|
rs759245832
|
|
|
NM_000238.4(KCNH2):c.1644C>G (p.Ala548=)
|
rs370764268
|
|
|
NM_000238.4(KCNH2):c.1645G>A (p.Val549Met)
|
rs1257206721
|
|
|
NM_000238.4(KCNH2):c.165G>A (p.Ser55=)
|
rs1801937336
|
|
|
NM_000238.4(KCNH2):c.166C>A (p.Arg56=)
|
rs1801937245
|
|
|
NM_000238.4(KCNH2):c.1674G>A (p.Ala558=)
|
rs554855472
|
|
|
NM_000238.4(KCNH2):c.1674G>T (p.Ala558=)
|
rs554855472
|
|
|
NM_000238.4(KCNH2):c.1680C>T (p.Ile560=)
|
rs372725107
|
|
|
NM_000238.4(KCNH2):c.1686C>T (p.His562=)
|
rs1057520477
|
|
|
NM_000238.4(KCNH2):c.1710C>T (p.Ala570=)
|
rs1801173295
|
|
|
NM_000238.4(KCNH2):c.1713C>A (p.Ile571=)
|
|
|
|
NM_000238.4(KCNH2):c.1747A>G (p.Ile583Val)
|
rs199473427
|
|
|
NM_000238.4(KCNH2):c.1771G>A (p.Asp591Asn)
|
rs376319070
|
|
|
NM_000238.4(KCNH2):c.1794C>T (p.Asn598=)
|
|
|
|
NM_000238.4(KCNH2):c.1796G>A (p.Ser599Asn)
|
rs1329260732
|
|
|
NM_000238.4(KCNH2):c.1812C>T (p.Gly604=)
|
rs1801165070
|
|
|
NM_000238.4(KCNH2):c.1830G>A (p.Lys610=)
|
|
|
|
NM_000238.4(KCNH2):c.1836G>C (p.Val612=)
|
rs1554425781
|
|
|
NM_000238.4(KCNH2):c.184C>A (p.Arg62=)
|
rs1218798860
|
|
|
NM_000238.4(KCNH2):c.1854C>T (p.Thr618=)
|
rs1801161429
|
|
|
NM_000238.4(KCNH2):c.1878C>T (p.Gly626=)
|
|
|
|
NM_000238.4(KCNH2):c.1899C>T (p.Asn633=)
|
rs1801157152
|
|
|
NM_000238.4(KCNH2):c.1908A>G (p.Ser636=)
|
rs753387993
|
|
|
NM_000238.4(KCNH2):c.1926C>A (p.Ile642=)
|
rs1801154313
|
|
|
NM_000238.4(KCNH2):c.1946-11C>T
|
rs1801138708
|
|
|
NM_000238.4(KCNH2):c.195C>T (p.Thr65=)
|
rs2117063093
|
|
|
NM_000238.4(KCNH2):c.2007C>T (p.Gly669=)
|
rs2116955745
|
|
|
NM_000238.4(KCNH2):c.2013C>T (p.Ala671=)
|
rs2116955668
|
|
|
NM_000238.4(KCNH2):c.2049C>T (p.Phe683=)
|
rs1182045587
|
|
|
NM_000238.4(KCNH2):c.2059C>T (p.His687Tyr)
|
rs199472982
|
|
|
NM_000238.4(KCNH2):c.2076C>T (p.Pro692=)
|
|
|
|
NM_000238.4(KCNH2):c.2079G>A (p.Leu693=)
|
|
|
|
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=)
|
rs794728384
|
|
|
NM_000238.4(KCNH2):c.2146-15C>T
|
rs1801096818
|
|
|
NM_000238.4(KCNH2):c.2157C>T (p.Gly719=)
|
rs748506070
|
|
|
NM_000238.4(KCNH2):c.2196G>T (p.Leu732=)
|
rs1801094386
|
|
|
NM_000238.4(KCNH2):c.219C>A (p.Arg73=)
|
rs761494105
|
|
|
NM_000238.4(KCNH2):c.2200C>G (p.Arg734Gly)
|
rs143072395
|
|
|
NM_000238.4(KCNH2):c.2203T>G (p.Ser735Ala)
|
rs2116950545
|
|
|
NM_000238.4(KCNH2):c.2209C>T (p.Leu737=)
|
|
|
|
NM_000238.4(KCNH2):c.2221A>C (p.Lys741Gln)
|
rs1801092981
|
|
|
NM_000238.4(KCNH2):c.2246G>A (p.Gly749Asp)
|
|
|
|
NM_000238.4(KCNH2):c.225G>A (p.Gln75=)
|
|
|
|
NM_000238.4(KCNH2):c.227G>T (p.Arg76Leu)
|
rs868054429
|
|
|
NM_000238.4(KCNH2):c.2288C>G (p.Ala763Gly)
|
|
|
|
NM_000238.4(KCNH2):c.2292G>T (p.Pro764=)
|
rs766291953
|
|
|
NM_000238.4(KCNH2):c.2337G>T (p.Leu779=)
|
rs1801086098
|
|
|
NM_000238.4(KCNH2):c.2349C>T (p.Ser783=)
|
|
|
|
NM_000238.4(KCNH2):c.235G>A (p.Ala79Thr)
|
rs794728494
|
|
|
NM_000238.4(KCNH2):c.237C>G (p.Ala79=)
|
rs1060503994
|
|
|
NM_000238.4(KCNH2):c.2392A>G (p.Ile798Val)
|
|
|
|
NM_000238.4(KCNH2):c.2398+105del
|
rs546898924
|
|
|
NM_000238.4(KCNH2):c.2398+106T>G
|
rs1489831109
|
|
|
NM_000238.4(KCNH2):c.2398+108C>T
|
rs1801075833
|
|
|
NM_000238.4(KCNH2):c.2398+155C>A
|
rs536958259
|
|
|
NM_000238.4(KCNH2):c.2398+155C>T
|
rs536958259
|
|
|
NM_000238.4(KCNH2):c.2398+17G>T
|
rs1224163933
|
|
|
NM_000238.4(KCNH2):c.2398+254del
|
rs1563152223
|
|
|
NM_000238.4(KCNH2):c.2398+4T>C
|
rs1057520559
|
|
|
NM_000238.4(KCNH2):c.2398+87C>T
|
rs775974046
|
|
|
NM_000238.4(KCNH2):c.243G>A (p.Gln81=)
|
rs199472849
|
|
|
NM_000238.4(KCNH2):c.2453C>G (p.Ser818Trp)
|
|
|
|
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu)
|
rs121912510
|
|
|
NM_000238.4(KCNH2):c.2454G>C (p.Ser818=)
|
rs72549418
|
|
|
NM_000238.4(KCNH2):c.2468G>A (p.Arg823Gln)
|
rs1064793147
|
|
|
NM_000238.4(KCNH2):c.246C>T (p.Ile82=)
|
rs974990528
|
|
|
NM_000238.4(KCNH2):c.249G>T (p.Ala83=)
|
rs963871771
|
|
|
NM_000238.4(KCNH2):c.2508C>T (p.Asp836=)
|
rs139295242
|
|
|
NM_000238.4(KCNH2):c.2515C>A (p.Leu839Met)
|
rs1801028129
|
|
|
NM_000238.4(KCNH2):c.2524C>T (p.Leu842=)
|
|
|
|
NM_000238.4(KCNH2):c.2533T>C (p.Tyr845His)
|
|
|
|
NM_000238.4(KCNH2):c.2541G>T (p.Glu847Asp)
|
rs866263680
|
|
|
NM_000238.4(KCNH2):c.2548G>T (p.Asp850Tyr)
|
rs1036885088
|
|
|
NM_000238.4(KCNH2):c.2562C>T (p.Ser854=)
|
rs897540177
|
|
|
NM_000238.4(KCNH2):c.2566C>G (p.Leu856Val)
|
rs1563150352
|
|
|
NM_000238.4(KCNH2):c.2577C>G (p.Thr859=)
|
rs1060503993
|
|
|
NM_000238.4(KCNH2):c.2589A>G (p.Arg863=)
|
rs1036535206
|
|
|
NM_000238.4(KCNH2):c.258G>A (p.Leu86=)
|
rs1801931669
|
|
|
NM_000238.4(KCNH2):c.2592+3G>A
|
rs906562788
|
|
|
NM_000238.4(KCNH2):c.2593-7G>A
|
rs1217547849
|
|
|
NM_000238.4(KCNH2):c.2595C>G (p.Thr865=)
|
rs762327995
|
|
|
NM_000238.4(KCNH2):c.2612C>G (p.Ser871Cys)
|
rs1177213407
|
|
|
NM_000238.4(KCNH2):c.2613C>T (p.Ser871=)
|
rs1801010237
|
|
|
NM_000238.4(KCNH2):c.2635G>A (p.Gly879Ser)
|
rs199473040
|
|
|
NM_000238.4(KCNH2):c.2647C>T (p.Arg883Trp)
|
rs201765446
|
|
|
NM_000238.4(KCNH2):c.2653C>A (p.Arg885Ser)
|
rs143512106
|
|
|
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys)
|
rs143512106
|
|
|
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His)
|
rs202194495
|
|
|
NM_000238.4(KCNH2):c.2658G>C (p.Lys886Asn)
|
|
|
|
NM_000238.4(KCNH2):c.2659C>G (p.Arg887Gly)
|
rs140279503
|
|
|
NM_000238.4(KCNH2):c.2660G>T (p.Arg887Leu)
|
rs199473432
|
|
|
NM_000238.4(KCNH2):c.2661C>T (p.Arg887=)
|
|
|
|
NM_000238.4(KCNH2):c.2668T>C (p.Ser890Pro)
|
rs1801006262
|
|
|
NM_000238.4(KCNH2):c.2670C>T (p.Ser890=)
|
rs759861732
|
|
|
NM_000238.4(KCNH2):c.2672T>G (p.Phe891Cys)
|
|
|
|
NM_000238.4(KCNH2):c.2672_2673delinsAT (p.Phe891Tyr)
|
rs2116937780
|
|
|
NM_000238.4(KCNH2):c.2676C>A (p.Arg892=)
|
rs1181660805
|
|
|
NM_000238.4(KCNH2):c.2684C>A (p.Thr895Lys)
|
rs199473434
|
|
|
NM_000238.4(KCNH2):c.2684C>G (p.Thr895Arg)
|
rs199473434
|
|
|
NM_000238.4(KCNH2):c.2685G>A (p.Thr895=)
|
rs376008424
|
|
|
NM_000238.4(KCNH2):c.2689A>C (p.Lys897Gln)
|
|
|
|
NM_000238.4(KCNH2):c.2689A>G (p.Lys897Glu)
|
|
|
|
NM_000238.4(KCNH2):c.2690A>G (p.Lys897Arg)
|
|
|
|
NM_000238.4(KCNH2):c.2690A>T (p.Lys897Met)
|
rs1805123
|
|
|
NM_000238.4(KCNH2):c.2693-13_2693-12del
|
rs1800976948
|
|
|
NM_000238.4(KCNH2):c.2693-9T>A
|
|
|
|
NM_000238.4(KCNH2):c.2695A>T (p.Thr899Ser)
|
rs1800976319
|
|
|
NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter)
|
rs1800975855
|
|
|
NM_000238.4(KCNH2):c.2710G>A (p.Glu904Lys)
|
rs1800975334
|
|
|
NM_000238.4(KCNH2):c.2713_2726delinsCA (p.Val905_Gly909delinsGln)
|
rs1800974049
|
|
|
NM_000238.4(KCNH2):c.2719G>T (p.Ala907Ser)
|
rs752686806
|
|
|
NM_000238.4(KCNH2):c.2721C>T (p.Ala907=)
|
rs1800974519
|
|
|
NM_000238.4(KCNH2):c.2722T>C (p.Leu908=)
|
|
|
|
NM_000238.4(KCNH2):c.2731G>C (p.Gly911Arg)
|
rs1800973294
|
|
|
NM_000238.4(KCNH2):c.273G>T (p.Glu91Asp)
|
rs1433772415
|
|
|
NM_000238.4(KCNH2):c.2742_2775del (p.Ala915fs)
|
|
|
|
NM_000238.4(KCNH2):c.2746G>A (p.Gly916Arg)
|
rs1800972199
|
|
|
NM_000238.4(KCNH2):c.2758C>G (p.Arg920Gly)
|
rs199473438
|
|
|
NM_000238.4(KCNH2):c.2758C>T (p.Arg920Trp)
|
rs199473438
|
|
|
NM_000238.4(KCNH2):c.2760G>C (p.Arg920=)
|
rs1800971378
|
|
|
NM_000238.4(KCNH2):c.2765G>T (p.Arg922Leu)
|
rs199473439
|
|
|
NM_000238.4(KCNH2):c.2768C>T (p.Pro923Leu)
|
rs760408746
|
|
|
NM_000238.4(KCNH2):c.2769G>T (p.Pro923=)
|
rs557789224
|
|
|
NM_000238.4(KCNH2):c.2769_2771delinsAGC (p.Gly924Ala)
|
rs1800969882
|
|
|
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu)
|
rs199473009
|
|
|
NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala)
|
rs199473009
|
|
|
NM_000238.4(KCNH2):c.2774G>A (p.Gly925Glu)
|
rs794728398
|
|
|
NM_000238.4(KCNH2):c.2774G>T (p.Gly925Val)
|
rs794728398
|
|
|
NM_000238.4(KCNH2):c.2775del (p.Pro926fs)
|
rs794728455
|
|
|
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs)
|
rs794728455
|
|
|
NM_000238.4(KCNH2):c.2782G>C (p.Gly928Arg)
|
|
|
|
NM_000238.4(KCNH2):c.2785G>C (p.Glu929Gln)
|
rs1800967308
|
|
|
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs)
|
rs794728458
|
|
|
NM_000238.4(KCNH2):c.2788A>G (p.Ser930Gly)
|
rs794728400
|
|
|
NM_000238.4(KCNH2):c.278A>G (p.Lys93Arg)
|
rs780197027
|
|
|
NM_000238.4(KCNH2):c.2792C>G (p.Pro931Arg)
|
rs749759697
|
|
|
NM_000238.4(KCNH2):c.2795C>T (p.Ser932Phe)
|
rs1800966447
|
|
|
NM_000238.4(KCNH2):c.2803C>G (p.Pro935Ala)
|
rs1419849010
|
|
|
NM_000238.4(KCNH2):c.2803C>T (p.Pro935Ser)
|
|
|
|
NM_000238.4(KCNH2):c.2819G>T (p.Ser940Ile)
|
rs1800965243
|
|
|
NM_000238.4(KCNH2):c.2823_2846del (p.Glu942_Ser949del)
|
|
|
|
NM_000238.4(KCNH2):c.2832G>C (p.Glu944Asp)
|
rs1232364499
|
|
|
NM_000238.4(KCNH2):c.2857C>T (p.Leu953Phe)
|
rs1800963184
|
|
|
NM_000238.4(KCNH2):c.2875T>A (p.Ser959Thr)
|
rs1800962302
|
|
|
NM_000238.4(KCNH2):c.2889C>A (p.Pro963=)
|
rs749814759
|
|
|
NM_000238.4(KCNH2):c.2892C>G (p.Pro964=)
|
rs769972412
|
|
|
NM_000238.4(KCNH2):c.2892del (p.Gly965fs)
|
rs794728462
|
|
|
NM_000238.4(KCNH2):c.2899C>T (p.Pro967Ser)
|
rs1057450060
|
|
|
NM_000238.4(KCNH2):c.2901G>T (p.Pro967=)
|
rs780481239
|
|
|
NM_000238.4(KCNH2):c.2906G>T (p.Gly969Val)
|
rs749873669
|
|
|
NM_000238.4(KCNH2):c.2908G>A (p.Gly970Arg)
|
rs1800959537
|
|
|
NM_000238.4(KCNH2):c.2913G>T (p.Glu971Asp)
|
rs1347067242
|
|
|
NM_000238.4(KCNH2):c.2926G>A (p.Asp976Asn)
|
rs1800958394
|
|
|
NM_000238.4(KCNH2):c.2931C>G (p.Cys977Trp)
|
rs761585108
|
|
|
NM_000238.4(KCNH2):c.2937G>C (p.Lys979Asn)
|
|
|
|
NM_000238.4(KCNH2):c.2955C>T (p.Asn985=)
|
rs1584844286
|
|
|
NM_000238.4(KCNH2):c.2958C>T (p.Pro986=)
|
rs2116931525
|
|
|
NM_000238.4(KCNH2):c.2959C>T (p.Leu987=)
|
rs1800955984
|
|
|
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs)
|
rs748706373
|
|
|
NM_000238.4(KCNH2):c.2964A>G (p.Ser988=)
|
rs1800955277
|
|
|
NM_000238.4(KCNH2):c.2966-14CT[2]
|
rs1800949508
|
|
|
NM_000238.4(KCNH2):c.2966-4G>A
|
rs1252745863
|
|
|
NM_000238.4(KCNH2):c.2966-8G>T
|
rs1417472918
|
|
|
NM_000238.4(KCNH2):c.2974T>G (p.Ser992Ala)
|
|
|
|
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter)
|
rs794728401
|
|
|
NM_000238.4(KCNH2):c.3003G>T (p.Trp1001Cys)
|
|
|
|
NM_000238.4(KCNH2):c.3006G>T (p.Gly1002=)
|
rs1180428044
|
|
|
NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr)
|
rs794728402
|
|
|
NM_000238.4(KCNH2):c.300G>T (p.Arg100=)
|
rs761176105
|
|
|
NM_000238.4(KCNH2):c.3016G>A (p.Gly1006Ser)
|
|
|
|
NM_000238.4(KCNH2):c.3032A>G (p.Glu1011Gly)
|
rs1800945318
|
|
|
NM_000238.4(KCNH2):c.3041G>A (p.Arg1014Gln)
|
rs932335536
|
|
|
NM_000238.4(KCNH2):c.3045C>T (p.Cys1015=)
|
rs1800944753
|
|
|
NM_000238.4(KCNH2):c.3051C>A (p.Ala1017=)
|
rs75488587
|
|
|
NM_000238.4(KCNH2):c.3064CTC[1] (p.Leu1023del)
|
rs1212065784
|
|
|
NM_000238.4(KCNH2):c.3065T>C (p.Leu1022Pro)
|
rs1800942388
|
|
|
NM_000238.4(KCNH2):c.3067C>G (p.Leu1023Val)
|
|
|
|
NM_000238.4(KCNH2):c.3089C>A (p.Pro1030Gln)
|
|
|
|
NM_000238.4(KCNH2):c.3090G>C (p.Pro1030=)
|
rs778604642
|
|
|
NM_000238.4(KCNH2):c.3091_3096dup (p.Gly1031_Arg1032dup)
|
rs1563145780
|
|
|
NM_000238.4(KCNH2):c.3092G>A (p.Gly1031Asp)
|
rs1391531244
|
|
|
NM_000238.4(KCNH2):c.3095G>C (p.Arg1032Pro)
|
rs199473020
|
|
|
NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs)
|
rs794728467
|
|
|
NM_000238.4(KCNH2):c.3101_3102insGTCGCGGCC (p.Pro1034_Arg1035insSerArgPro)
|
rs2116928842
|
|
|
NM_000238.4(KCNH2):c.3105G>A (p.Arg1035=)
|
|
|
|
NM_000238.4(KCNH2):c.3112G>T (p.Val1038Leu)
|
rs199473544
|
|
|
NM_000238.4(KCNH2):c.3138G>T (p.Gln1046His)
|
rs1367829679
|
|
|
NM_000238.4(KCNH2):c.3140G>A (p.Arg1047His)
|
rs36210421
|
|
|
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu)
|
rs36210421
|
|
|
NM_000238.4(KCNH2):c.3152+4A>C
|
rs2116928055
|
|
|
NM_000238.4(KCNH2):c.315C>T (p.Cys105=)
|
rs772377097
|
|
|
NM_000238.4(KCNH2):c.3178A>G (p.Met1060Val)
|
rs767156792
|
|
|
NM_000238.4(KCNH2):c.3224C>A (p.Pro1075Gln)
|
rs199473028
|
|
|
NM_000238.4(KCNH2):c.3261C>T (p.Gly1087=)
|
rs1584841732
|
|
|
NM_000238.4(KCNH2):c.3286C>T (p.Pro1096Ser)
|
rs1554423737
|
|
|
NM_000238.4(KCNH2):c.3301C>T (p.Pro1101Ser)
|
rs1347039291
|
|
|
NM_000238.4(KCNH2):c.3305C>T (p.Thr1102Ile)
|
rs794728405
|
|
|
NM_000238.4(KCNH2):c.3315G>C (p.Leu1105Phe)
|
rs1800909845
|
|
|
NM_000238.4(KCNH2):c.331G>A (p.Asp111Asn)
|
rs1801502139
|
|
|
NM_000238.4(KCNH2):c.3322C>G (p.Leu1108Val)
|
rs199473031
|
|
|
NM_000238.4(KCNH2):c.3331-13GT[2]
|
rs41313749
|
|
|
NM_000238.4(KCNH2):c.3333T>C (p.Val1111=)
|
rs2116918156
|
|
|
NM_000238.4(KCNH2):c.3339G>A (p.Gln1113=)
|
rs1800859025
|
|
|
NM_000238.4(KCNH2):c.3346G>A (p.Ala1116Thr)
|
rs1800858723
|
|
|
NM_000238.4(KCNH2):c.3348G>T (p.Ala1116=)
|
|
|
|
NM_000238.4(KCNH2):c.3357G>A (p.Glu1119=)
|
rs1389024546
|
|
|
NM_000238.4(KCNH2):c.3361C>T (p.Pro1121Ser)
|
rs1800857722
|
|
|
NM_000238.4(KCNH2):c.3379C>T (p.Leu1127Phe)
|
rs1800856518
|
|
|
NM_000238.4(KCNH2):c.33G>A (p.Gln11=)
|
rs1473417269
|
|
|
NM_000238.4(KCNH2):c.3410C>A (p.Ser1137Tyr)
|
rs1413026629
|
|
|
NM_000238.4(KCNH2):c.3415C>T (p.Pro1139Ser)
|
|
|
|
NM_000238.4(KCNH2):c.3447C>G (p.Pro1149=)
|
|
|
|
NM_000238.4(KCNH2):c.3460G>A (p.Gly1154Ser)
|
rs199473548
|
|
|
NM_000238.4(KCNH2):c.3467A>G (p.Asp1156Gly)
|
rs1266712553
|
|
|
NM_000238.4(KCNH2):c.354G>C (p.Glu118Asp)
|
|
|
|
NM_000238.4(KCNH2):c.366CAT[1] (p.Ile123del)
|
|
|
|
NM_000238.4(KCNH2):c.388G>A (p.Glu130Lys)
|
rs199472863
|
|
|
NM_000238.4(KCNH2):c.391G>A (p.Val131Met)
|
rs142590566
|
|
|
NM_000238.4(KCNH2):c.419C>T (p.Ser140Phe)
|
|
|
|
NM_000238.4(KCNH2):c.435C>T (p.Thr145=)
|
rs1008362369
|
|
|
NM_000238.4(KCNH2):c.446G>A (p.Gly149Asp)
|
rs199472865
|
|
|
NM_000238.4(KCNH2):c.446G>C (p.Gly149Ala)
|
rs199472865
|
|
|
NM_000238.4(KCNH2):c.451C>G (p.Pro151Ala)
|
rs1060500674
|
|
|
NM_000238.4(KCNH2):c.460T>C (p.Trp154Arg)
|
rs747591865
|
|
|
NM_000238.4(KCNH2):c.54C>A (p.Ile18=)
|
|
|
|
NM_000238.4(KCNH2):c.72C>G (p.Gly24=)
|
rs1436486897
|
|
|
NM_000238.4(KCNH2):c.76A>G (p.Ser26Gly)
|
rs1802015752
|
|
|
NM_000238.4(KCNH2):c.77-10_77-9delinsAA
|
|
|
|
NM_000238.4(KCNH2):c.77-1G>T
|
rs794728406
|
|
|
NM_000238.4(KCNH2):c.77-4C>G
|
rs1584883545
|
|
|
NM_000238.4(KCNH2):c.77-4C>T
|
rs1584883545
|
|
|
NM_000238.4(KCNH2):c.77-5C>A
|
rs72549419
|
|
|
NM_000238.4(KCNH2):c.77-5C>G
|
rs72549419
|
|
|
NM_000238.4(KCNH2):c.77-5C>T
|
rs72549419
|
|
|
NM_000238.4(KCNH2):c.77-6C>G
|
rs1474982625
|
|
|
NM_000238.4(KCNH2):c.77-9C>T
|
rs1311500123
|
|
|
NM_000238.4(KCNH2):c.87C>T (p.Phe29=)
|
rs199472830
|
|
|
NM_000238.4(KCNH2):c.917-10C>T
|
rs767322698
|
|
|
NM_000238.4(KCNH2):c.922A>G (p.Met308Val)
|
|
|
|
NM_000238.4(KCNH2):c.923T>G (p.Met308Arg)
|
rs372559632
|
|
|
NM_000238.4(KCNH2):c.928C>A (p.Pro310Thr)
|
rs1801415549
|
|
|
NM_000238.4(KCNH2):c.929C>A (p.Pro310Gln)
|
|
|
|
NM_000238.4(KCNH2):c.929C>T (p.Pro310Leu)
|
rs769368735
|
|
|
NM_000238.4(KCNH2):c.933G>A (p.Leu311=)
|
rs1801415043
|
|
|
NM_000238.4(KCNH2):c.941G>A (p.Gly314Asp)
|
rs1801414464
|
|
|
NM_000238.4(KCNH2):c.94G>A (p.Ala32Thr)
|
rs199472834
|
|
|
NM_000238.4(KCNH2):c.959C>G (p.Ser320Trp)
|
rs199472886
|
|
|
NM_000238.4(KCNH2):c.960G>A (p.Ser320=)
|
rs757055211
|
|
|
NM_000238.4(KCNH2):c.966C>G (p.Ser322=)
|
rs200290864
|
|
|
NM_000238.4(KCNH2):c.973G>C (p.Val325Leu)
|
rs149381387
|
|
|
NM_000238.4(KCNH2):c.979T>C (p.Tyr327His)
|
rs776431167
|
|
|
NM_000256.3(MYBPC3):c.*3_*15del
|
rs2095876441
|
|
|
NM_000256.3(MYBPC3):c.1008C>G (p.Ile336Met)
|
rs397515880
|
|
|
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=)
|
rs397515880
|
|
|
NM_000256.3(MYBPC3):c.1010C>T (p.Ala337Val)
|
rs1356431718
|
|
|
NM_000256.3(MYBPC3):c.1028C>T (p.Thr343Ile)
|
|
|
|
NM_000256.3(MYBPC3):c.1028del (p.Thr343fs)
|
rs730880686
|
|
|
NM_000256.3(MYBPC3):c.1031A>G (p.Asp344Gly)
|
rs2095893984
|
|
|
NM_000256.3(MYBPC3):c.1032C>T (p.Asp344=)
|
rs1351784136
|
|
|
NM_000256.3(MYBPC3):c.1036C>T (p.Arg346Cys)
|
rs1236178301
|
|
|
NM_000256.3(MYBPC3):c.1061G>T (p.Gly354Val)
|
|
|
|
NM_000256.3(MYBPC3):c.1062C>A (p.Gly354=)
|
rs1555122748
|
|
|
NM_000256.3(MYBPC3):c.1072G>T (p.Asp358Tyr)
|
rs746267533
|
|
|
NM_000256.3(MYBPC3):c.1076A>G (p.Glu359Gly)
|
rs2095893888
|
|
|
NM_000256.3(MYBPC3):c.1076AGA[2] (p.Lys361del)
|
rs775069579
|
|
|
NM_000256.3(MYBPC3):c.1083G>A (p.Lys361=)
|
|
|
|
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly)
|
rs730880633
|
|
|
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr)
|
rs794727046
|
|
|
NM_000256.3(MYBPC3):c.1091-14G>A
|
|
|
|
NM_000256.3(MYBPC3):c.1091-7T>C
|
rs2142862333
|
|
|
NM_000256.3(MYBPC3):c.109G>A (p.Gly37Arg)
|
rs2142869753
|
|
|
NM_000256.3(MYBPC3):c.1104G>A (p.Lys368=)
|
rs1565628536
|
|
|
NM_000256.3(MYBPC3):c.1105C>T (p.Leu369=)
|
|
|
|
NM_000256.3(MYBPC3):c.1115C>T (p.Ala372Val)
|
rs2095891415
|
|
|
NM_000256.3(MYBPC3):c.1122G>C (p.Gln374His)
|
|
|
|
NM_000256.3(MYBPC3):c.1151C>T (p.Thr384Ile)
|
rs2095891335
|
|
|
NM_000256.3(MYBPC3):c.1153G>C (p.Val385Leu)
|
|
|
|
NM_000256.3(MYBPC3):c.1166A>T (p.Asp389Val)
|
rs1412710023
|
|
|
NM_000256.3(MYBPC3):c.1167C>G (p.Asp389Glu)
|
rs1292522713
|
|
|
NM_000256.3(MYBPC3):c.1169A>C (p.His390Pro)
|
|
|
|
NM_000256.3(MYBPC3):c.1170T>C (p.His390=)
|
rs2142862227
|
|
|
NM_000256.3(MYBPC3):c.1176T>G (p.Ala392=)
|
|
|
|
NM_000256.3(MYBPC3):c.1191C>T (p.Leu397=)
|
rs1319991948
|
|
|
NM_000256.3(MYBPC3):c.1195A>G (p.Asn399Asp)
|
rs2142862196
|
|
|
NM_000256.3(MYBPC3):c.1217G>A (p.Ser406Asn)
|
rs1053965064
|
|
|
NM_000256.3(MYBPC3):c.1223+4C>T
|
rs1348810506
|
|
|
NM_000256.3(MYBPC3):c.1224-61_1224-53dup
|
rs1565628380
|
|
|
NM_000256.3(MYBPC3):c.1227-10C>G
|
|
|
|
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer)
|
rs397515894
|
|
|
NM_000256.3(MYBPC3):c.1243A>G (p.Ile415Val)
|
rs1269517446
|
|
|
NM_000256.3(MYBPC3):c.1246G>T (p.Gly416Cys)
|
|
|
|
NM_000256.3(MYBPC3):c.1254G>C (p.Lys418Asn)
|
rs2095890764
|
|
|
NM_000256.3(MYBPC3):c.1255C>A (p.Arg419Ser)
|
rs368770848
|
|
|
NM_000256.3(MYBPC3):c.1260C>A (p.Thr420=)
|
rs1461148074
|
|
|
NM_000256.3(MYBPC3):c.1278C>T (p.Cys426=)
|
rs746770543
|
|
|
NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter)
|
rs1432810664
|
|
|
NM_000256.3(MYBPC3):c.1305G>T (p.Gln435His)
|
|
|
|
NM_000256.3(MYBPC3):c.130C>T (p.Arg44Cys)
|
rs557439091
|
|
|
NM_000256.3(MYBPC3):c.1311G>C (p.Val437=)
|
rs1060504240
|
|
|
NM_000256.3(MYBPC3):c.1312G>C (p.Val438Leu)
|
|
|
|
NM_000256.3(MYBPC3):c.1315G>A (p.Gly439Ser)
|
rs2095890672
|
|
|
NM_000256.3(MYBPC3):c.1320C>A (p.Gly440=)
|
|
|
|
NM_000256.3(MYBPC3):c.132C>G (p.Arg44=)
|
rs377579620
|
|
|
NM_000256.3(MYBPC3):c.1350A>G (p.Lys450=)
|
|
|
|
NM_000256.3(MYBPC3):c.1352-10G>A
|
rs745645848
|
|
|
NM_000256.3(MYBPC3):c.1352-13C>G
|
rs1349916237
|
|
|
NM_000256.3(MYBPC3):c.1352-9C>A
|
rs2142861524
|
|
|
NM_000256.3(MYBPC3):c.1355C>A (p.Pro452His)
|
rs730880536
|
|
|
NM_000256.3(MYBPC3):c.1363C>G (p.Leu455Val)
|
rs747686377
|
|
|
NM_000256.3(MYBPC3):c.1371G>A (p.Thr457=)
|
rs538072263
|
|
|
NM_000256.3(MYBPC3):c.1375C>G (p.Pro459Ala)
|
rs758901980
|
|
|
NM_000256.3(MYBPC3):c.1377del (p.Leu460fs)
|
rs786204339
|
|
|
NM_000256.3(MYBPC3):c.1383G>C (p.Glu461Asp)
|
rs1486640299
|
|
|
NM_000256.3(MYBPC3):c.1396A>G (p.Met466Val)
|
rs2142861425
|
|
|
NM_000256.3(MYBPC3):c.139A>G (p.Ser47Gly)
|
rs1267396024
|
|
|
NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp)
|
rs201278114
|
|
|
NM_000256.3(MYBPC3):c.1404G>A (p.Gly468=)
|
rs1595846367
|
|
|
NM_000256.3(MYBPC3):c.1408C>T (p.Arg470Trp)
|
rs1595846365
|
|
|
NM_000256.3(MYBPC3):c.1411G>C (p.Val471Leu)
|
rs1378189986
|
|
|
NM_000256.3(MYBPC3):c.1422G>C (p.Glu474Asp)
|
rs397515901
|
|
|
NM_000256.3(MYBPC3):c.1441G>C (p.Gly481Arg)
|
rs2095890302
|
|
|
NM_000256.3(MYBPC3):c.1443G>A (p.Gly481=)
|
rs1038914570
|
|
|
NM_000256.3(MYBPC3):c.1446G>A (p.Ala482=)
|
rs747627648
|
|
|
NM_000256.3(MYBPC3):c.1457_1457+25delinsC
|
|
|
|
NM_000256.3(MYBPC3):c.1458-13C>T
|
rs761896043
|
|
|
NM_000256.3(MYBPC3):c.1458-18ACCC[4]
|
rs778947597
|
|
|
NM_000256.3(MYBPC3):c.1458-4C>T
|
rs779521086
|
|
|
NM_000256.3(MYBPC3):c.1458-8C>T
|
|
|
|
NM_000256.3(MYBPC3):c.1466_1468dup (p.Asp489dup)
|
rs2095890089
|
|
|
NM_000256.3(MYBPC3):c.146_148del (p.Ile49del)
|
rs781207661
|
|
|
NM_000256.3(MYBPC3):c.147C>G (p.Ile49Met)
|
rs774273586
|
|
|
NM_000256.3(MYBPC3):c.1482C>T (p.Thr494=)
|
rs756101990
|
|
|
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)
|
rs397515905
|
|
|
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
|
rs397515905
|
|
|
NM_000256.3(MYBPC3):c.1495T>C (p.Phe499Leu)
|
rs2095890036
|
|
|
NM_000256.3(MYBPC3):c.1502A>G (p.Tyr501Cys)
|
rs1595846231
|
|
|
NM_000256.3(MYBPC3):c.1506G>T (p.Arg502=)
|
rs1481158714
|
|
|
NM_000256.3(MYBPC3):c.150C>A (p.Ser50Arg)
|
rs368918487
|
|
|
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)
|
rs727504287
|
|
|
NM_000256.3(MYBPC3):c.1518_1519del (p.Asp506fs)
|
rs2095889992
|
|
|
NM_000256.3(MYBPC3):c.1519G>C (p.Gly507Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.151G>A (p.Ala51Thr)
|
rs534282225
|
|
|
NM_000256.3(MYBPC3):c.151G>T (p.Ala51Ser)
|
rs534282225
|
|
|
NM_000256.3(MYBPC3):c.1521G>A (p.Gly507=)
|
rs1235816440
|
|
|
NM_000256.3(MYBPC3):c.1531C>A (p.His511Asn)
|
rs2095889971
|
|
|
NM_000256.3(MYBPC3):c.1533C>G (p.His511Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.1543_1545del (p.Asn515del)
|
rs730880643
|
|
|
NM_000256.3(MYBPC3):c.1546G>A (p.Glu516Lys)
|
rs730880545
|
|
|
NM_000256.3(MYBPC3):c.1576G>A (p.Ala526Thr)
|
rs2095889889
|
|
|
NM_000256.3(MYBPC3):c.1578A>G (p.Ala526=)
|
rs766721220
|
|
|
NM_000256.3(MYBPC3):c.1579C>A (p.Leu527Met)
|
|
|
|
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)
|
rs397515912
|
|
|
NM_000256.3(MYBPC3):c.1615A>G (p.Ile539Val)
|
|
|
|
NM_000256.3(MYBPC3):c.1616T>G (p.Ile539Ser)
|
rs1158024707
|
|
|
NM_000256.3(MYBPC3):c.1624+6C>T
|
rs2095889769
|
|
|
NM_000256.3(MYBPC3):c.1625-12C>T
|
rs786204342
|
|
|
NM_000256.3(MYBPC3):c.1625-14G>T
|
rs2095889357
|
|
|
NM_000256.3(MYBPC3):c.1625-5del
|
rs2095889343
|
|
|
NM_000256.3(MYBPC3):c.1650C>T (p.Ser550=)
|
rs2095889299
|
|
|
NM_000256.3(MYBPC3):c.1654G>A (p.Ala552Thr)
|
rs727504887
|
|
|
NM_000256.3(MYBPC3):c.1659C>T (p.Asp553=)
|
|
|
|
NM_000256.3(MYBPC3):c.1666G>T (p.Val556Leu)
|
rs2142860299
|
|
|
NM_000256.3(MYBPC3):c.1675A>G (p.Lys559Glu)
|
rs2095889250
|
|
|
NM_000256.3(MYBPC3):c.1685C>A (p.Ala562Glu)
|
rs730880694
|
|
|
NM_000256.3(MYBPC3):c.1686G>T (p.Ala562=)
|
rs762228885
|
|
|
NM_000256.3(MYBPC3):c.169C>T (p.Leu57=)
|
|
|
|
NM_000256.3(MYBPC3):c.1720C>T (p.Arg574Trp)
|
rs61897383
|
|
|
NM_000256.3(MYBPC3):c.1721G>T (p.Arg574Leu)
|
rs397515922
|
|
|
NM_000256.3(MYBPC3):c.1740T>C (p.Asn580=)
|
|
|
|
NM_000256.3(MYBPC3):c.1764C>T (p.Ser588=)
|
rs747918558
|
|
|
NM_000256.3(MYBPC3):c.1776_1777del (p.Ser593fs)
|
rs730880713
|
|
|
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)
|
rs397515925
|
|
|
NM_000256.3(MYBPC3):c.1785C>A (p.Ile595=)
|
rs572227730
|
|
|
NM_000256.3(MYBPC3):c.1791-10_1791-8delinsCCT
|
rs876657510
|
|
|
NM_000256.3(MYBPC3):c.1791-11C>G
|
rs12575827
|
|
|
NM_000256.3(MYBPC3):c.1791-13_1791-12insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA
|
rs2095888299
|
|
|
NM_000256.3(MYBPC3):c.1791-7C>G
|
rs2095888282
|
|
|
NM_000256.3(MYBPC3):c.1791-9C>A
|
rs776017963
|
|
|
NM_000256.3(MYBPC3):c.1791G>T (p.Arg597=)
|
rs772488845
|
|
|
NM_000256.3(MYBPC3):c.1809T>C (p.Ile603=)
|
rs774348756
|
|
|
NM_000256.3(MYBPC3):c.1819A>T (p.Thr607Ser)
|
rs2095888220
|
|
|
NM_000256.3(MYBPC3):c.1821A>G (p.Thr607=)
|
rs758306575
|
|
|
NM_000256.3(MYBPC3):c.1822C>T (p.Pro608Ser)
|
rs730880552
|
|
|
NM_000256.3(MYBPC3):c.1827C>G (p.Ala609=)
|
rs535853707
|
|
|
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)
|
rs371564200
|
|
|
NM_000256.3(MYBPC3):c.1828G>T (p.Asp610Tyr)
|
rs371564200
|
|
|
NM_000256.3(MYBPC3):c.1828del (p.Asp610fs)
|
|
|
|
NM_000256.3(MYBPC3):c.1830C>G (p.Asp610Glu)
|
rs768049705
|
|
|
NM_000256.3(MYBPC3):c.1832A>G (p.Glu611Gly)
|
rs2142859317
|
|
|
NM_000256.3(MYBPC3):c.1845C>G (p.Ser615Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.1864G>A (p.Ala622Thr)
|
rs1489679460
|
|
|
NM_000256.3(MYBPC3):c.1866C>A (p.Ala622=)
|
|
|
|
NM_000256.3(MYBPC3):c.1880C>G (p.Ala627Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.1898-3C>G
|
|
|
|
NM_000256.3(MYBPC3):c.1899G>C (p.Glu633Asp)
|
rs1206508060
|
|
|
NM_000256.3(MYBPC3):c.1905G>A (p.Lys635=)
|
rs2095887893
|
|
|
NM_000256.3(MYBPC3):c.1922G>A (p.Arg641Lys)
|
|
|
|
NM_000256.3(MYBPC3):c.1923G>A (p.Arg641=)
|
|
|
|
NM_000256.3(MYBPC3):c.1927+601G>A
|
|
|
|
NM_000256.3(MYBPC3):c.1928-2A>G
|
rs397515937
|
|
|
NM_000256.3(MYBPC3):c.1928-4G>C
|
rs1324763333
|
|
|
NM_000256.3(MYBPC3):c.1933C>T (p.Pro645Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.194C>T (p.Thr65Met)
|
rs753300898
|
|
|
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His)
|
rs1800565
|
|
|
NM_000256.3(MYBPC3):c.1965A>G (p.Ile655Met)
|
|
|
|
NM_000256.3(MYBPC3):c.1972A>G (p.Thr658Ala)
|
|
|
|
NM_000256.3(MYBPC3):c.1974C>T (p.Thr658=)
|
rs2095886435
|
|
|
NM_000256.3(MYBPC3):c.2005C>A (p.Leu669Met)
|
rs1565626407
|
|
|
NM_000256.3(MYBPC3):c.2013C>T (p.Val671=)
|
rs1168755518
|
|
|
NM_000256.3(MYBPC3):c.2019C>G (p.Ile673Met)
|
rs746263346
|
|
|
NM_000256.3(MYBPC3):c.2019C>T (p.Ile673=)
|
rs746263346
|
|
|
NM_000256.3(MYBPC3):c.2025G>C (p.Gly675=)
|
rs2095886311
|
|
|
NM_000256.3(MYBPC3):c.2033C>A (p.Ala678Asp)
|
|
|
|
NM_000256.3(MYBPC3):c.2039C>T (p.Thr680Ile)
|
rs2142857616
|
|
|
NM_000256.3(MYBPC3):c.203T>C (p.Val68Ala)
|
rs2095900715
|
|
|
NM_000256.3(MYBPC3):c.2043G>A (p.Val681=)
|
|
|
|
NM_000256.3(MYBPC3):c.205C>A (p.Arg69=)
|
|
|
|
NM_000256.3(MYBPC3):c.2061C>T (p.Ile687=)
|
rs1218888004
|
|
|
NM_000256.3(MYBPC3):c.2063C>T (p.Thr688Met)
|
rs3729946
|
|
|
NM_000256.3(MYBPC3):c.2067+1G>A
|
rs1444727212
|
|
|
NM_000256.3(MYBPC3):c.2068-3C>T
|
rs2095885969
|
|
|
NM_000256.3(MYBPC3):c.2068-7T>C
|
rs2095885976
|
|
|
NM_000256.3(MYBPC3):c.2076G>A (p.Lys692=)
|
rs2142857360
|
|
|
NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser)
|
rs771753579
|
|
|
NM_000256.3(MYBPC3):c.2079C>G (p.Ala693=)
|
rs2095885948
|
|
|
NM_000256.3(MYBPC3):c.2079C>T (p.Ala693=)
|
rs2095885948
|
|
|
NM_000256.3(MYBPC3):c.2081C>G (p.Pro694Arg)
|
rs1448112841
|
|
|
NM_000256.3(MYBPC3):c.2084C>G (p.Ala695Gly)
|
rs2095885936
|
|
|
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs)
|
rs397515947
|
|
|
NM_000256.3(MYBPC3):c.2098G>A (p.Asp700Asn)
|
rs2095885920
|
|
|
NM_000256.3(MYBPC3):c.2113A>G (p.Thr705Ala)
|
rs2059051476
|
|
|
NM_000256.3(MYBPC3):c.2117G>A (p.Gly706Asp)
|
rs1565626231
|
|
|
NM_000256.3(MYBPC3):c.2120A>G (p.Asp707Gly)
|
rs2095885891
|
|
|
NM_000256.3(MYBPC3):c.2134G>T (p.Val712Leu)
|
|
|
|
NM_000256.3(MYBPC3):c.2136G>A (p.Val712=)
|
rs876657511
|
|
|
NM_000256.3(MYBPC3):c.2148+1G>T
|
rs1060499604
|
|
|
NM_000256.3(MYBPC3):c.2148+6_2148+9del
|
rs397515949
|
|
|
NM_000256.3(MYBPC3):c.2149-5C>G
|
rs36211722
|
|
|
NM_000256.3(MYBPC3):c.2149-9C>T
|
rs773882783
|
|
|
NM_000256.3(MYBPC3):c.2149-9dup
|
rs748128261
|
|
|
NM_000256.3(MYBPC3):c.2149C>T (p.Leu717=)
|
rs1342503923
|
|
|
NM_000256.3(MYBPC3):c.2166G>A (p.Glu722=)
|
rs2095885125
|
|
|
NM_000256.3(MYBPC3):c.2177G>T (p.Arg726Leu)
|
|
|
|
NM_000256.3(MYBPC3):c.2179G>C (p.Val727Leu)
|
rs564378953
|
|
|
NM_000256.3(MYBPC3):c.2198G>T (p.Arg733Leu)
|
rs534345197
|
|
|
NM_000256.3(MYBPC3):c.2215G>A (p.Glu739Lys)
|
|
|
|
NM_000256.3(MYBPC3):c.2217G>T (p.Glu739Asp)
|
rs786204348
|
|
|
NM_000256.3(MYBPC3):c.223dup (p.Asp75fs)
|
rs2095900669
|
|
|
NM_000256.3(MYBPC3):c.2240G>T (p.Gly747Val)
|
|
|
|
NM_000256.3(MYBPC3):c.2242G>A (p.Val748Ile)
|
rs730880563
|
|
|
NM_000256.3(MYBPC3):c.2256A>G (p.Thr752=)
|
rs2095884961
|
|
|
NM_000256.3(MYBPC3):c.2290C>G (p.Leu764Val)
|
rs2095884916
|
|
|
NM_000256.3(MYBPC3):c.2291T>G (p.Leu764Arg)
|
rs2142856528
|
|
|
NM_000256.3(MYBPC3):c.2298C>T (p.Val766=)
|
rs1228954013
|
|
|
NM_000256.3(MYBPC3):c.2308+1G>A
|
rs112738974
|
|
|
NM_000256.3(MYBPC3):c.2309-2A>G
|
rs111729952
|
|
|
NM_000256.3(MYBPC3):c.2318A>T (p.Asp773Val)
|
rs2142855771
|
|
|
NM_000256.3(MYBPC3):c.2320G>C (p.Ala774Pro)
|
|
|
|
NM_000256.3(MYBPC3):c.2326G>A (p.Ala776Thr)
|
rs1247018816
|
|
|
NM_000256.3(MYBPC3):c.2339T>C (p.Ile780Thr)
|
rs747912257
|
|
|
NM_000256.3(MYBPC3):c.2346C>T (p.Asn782=)
|
rs768638405
|
|
|
NM_000256.3(MYBPC3):c.2351G>A (p.Gly784Glu)
|
rs931275955
|
|
|
NM_000256.3(MYBPC3):c.2357A>G (p.Asp786Gly)
|
rs1595843879
|
|
|
NM_000256.3(MYBPC3):c.2360_2362dup (p.Ser787dup)
|
rs2095883988
|
|
|
NM_000256.3(MYBPC3):c.236A>G (p.Tyr79Cys)
|
rs2095900637
|
|
|
NM_000256.3(MYBPC3):c.2375G>T (p.Trp792Leu)
|
|
|
|
NM_000256.3(MYBPC3):c.2382G>A (p.Pro794=)
|
rs1565625459
|
|
|
NM_000256.3(MYBPC3):c.238G>A (p.Ala80Thr)
|
rs730880700
|
|
|
NM_000256.3(MYBPC3):c.238G>C (p.Ala80Pro)
|
rs730880700
|
|
|
NM_000256.3(MYBPC3):c.238G>T (p.Ala80Ser)
|
rs730880700
|
|
|
NM_000256.3(MYBPC3):c.2396G>A (p.Gly799Asp)
|
rs2095883919
|
|
|
NM_000256.3(MYBPC3):c.239delinsGAGG (p.Ala80delinsGlyGly)
|
rs727504335
|
|
|
NM_000256.3(MYBPC3):c.2409C>G (p.Ile803Met)
|
rs202088839
|
|
|
NM_000256.3(MYBPC3):c.2414-14C>T
|
rs2095883798
|
|
|
NM_000256.3(MYBPC3):c.2414-9del
|
|
|
|
NM_000256.3(MYBPC3):c.2417A>G (p.Tyr806Cys)
|
rs979085643
|
|
|
NM_000256.3(MYBPC3):c.241G>T (p.Val81Phe)
|
rs999833111
|
|
|
NM_000256.3(MYBPC3):c.2423T>C (p.Leu808Pro)
|
rs2142855537
|
|
|
NM_000256.3(MYBPC3):c.2432A>G (p.Lys811Arg)
|
rs1338707268
|
|
|
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)
|
rs727504288
|
|
|
NM_000256.3(MYBPC3):c.2441A>G (p.Lys814Arg)
|
rs1565625356
|
|
|
NM_000256.3(MYBPC3):c.2447A>G (p.Tyr816Cys)
|
rs1565625347
|
|
|
NM_000256.3(MYBPC3):c.2450G>C (p.Arg817Pro)
|
rs397515964
|
|
|
NM_000256.3(MYBPC3):c.2450G>T (p.Arg817Leu)
|
rs397515964
|
|
|
NM_000256.3(MYBPC3):c.2456T>C (p.Met819Thr)
|
rs876657870
|
|
|
NM_000256.3(MYBPC3):c.2470G>A (p.Asp824Asn)
|
rs774442478
|
|
|
NM_000256.3(MYBPC3):c.2473C>T (p.Leu825=)
|
rs2095883617
|
|
|
NM_000256.3(MYBPC3):c.2479C>A (p.Gln827Lys)
|
rs375322174
|
|
|
NM_000256.3(MYBPC3):c.2482G>C (p.Glu828Gln)
|
rs770514536
|
|
|
NM_000256.3(MYBPC3):c.2499G>A (p.Ala833=)
|
rs397515967
|
|
|
NM_000256.3(MYBPC3):c.2499GCG[1] (p.Arg835del)
|
rs2095883548
|
|
|
NM_000256.3(MYBPC3):c.2501G>A (p.Arg834Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.2504_2505delinsTT (p.Arg835Leu)
|
rs1595843667
|
|
|
NM_000256.3(MYBPC3):c.2505C>A (p.Arg835=)
|
rs561942028
|
|
|
NM_000256.3(MYBPC3):c.2506A>G (p.Met836Val)
|
|
|
|
NM_000256.3(MYBPC3):c.252_262del (p.Ser85fs)
|
rs2095900581
|
|
|
NM_000256.3(MYBPC3):c.2534G>C (p.Arg845Pro)
|
rs730880568
|
|
|
NM_000256.3(MYBPC3):c.2535C>A (p.Arg845=)
|
rs1288578869
|
|
|
NM_000256.3(MYBPC3):c.2536G>C (p.Val846Leu)
|
rs747774791
|
|
|
NM_000256.3(MYBPC3):c.2540A>G (p.Tyr847Cys)
|
rs864622071
|
|
|
NM_000256.3(MYBPC3):c.2541C>T (p.Tyr847=)
|
rs397515974
|
|
|
NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly)
|
rs730880569
|
|
|
NM_000256.3(MYBPC3):c.2544G>T (p.Ala848=)
|
|
|
|
NM_000256.3(MYBPC3):c.2560A>T (p.Met854Leu)
|
rs373171036
|
|
|
NM_000256.3(MYBPC3):c.2568G>A (p.Arg856=)
|
rs773032022
|
|
|
NM_000256.3(MYBPC3):c.2587C>T (p.Pro863Ser)
|
rs2095883304
|
|
|
NM_000256.3(MYBPC3):c.26-7C>T
|
rs2095901053
|
|
|
NM_000256.3(MYBPC3):c.2602+6C>G
|
rs1392129637
|
|
|
NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser)
|
rs775890771
|
|
|
NM_000256.3(MYBPC3):c.2603-2A>G
|
rs1419155559
|
|
|
NM_000256.3(MYBPC3):c.2603-5C>T
|
rs753396472
|
|
|
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)
|
rs371401403
|
|
|
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu)
|
rs371401403
|
|
|
NM_000256.3(MYBPC3):c.2621C>T (p.Thr874Ile)
|
rs759847861
|
|
|
NM_000256.3(MYBPC3):c.2622C>T (p.Thr874=)
|
rs886048375
|
|
|
NM_000256.3(MYBPC3):c.2628G>T (p.Leu876=)
|
rs1317628263
|
|
|
NM_000256.3(MYBPC3):c.264C>T (p.Val88=)
|
rs2095900576
|
|
|
NM_000256.3(MYBPC3):c.2651C>T (p.Thr884Ile)
|
rs1454927227
|
|
|
NM_000256.3(MYBPC3):c.2655G>T (p.Thr885=)
|
|
|
|
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)
|
rs397515982
|
|
|
NM_000256.3(MYBPC3):c.2676C>G (p.Pro892=)
|
rs559961809
|
|
|
NM_000256.3(MYBPC3):c.2687T>G (p.Val896Gly)
|
rs2095881827
|
|
|
NM_000256.3(MYBPC3):c.268T>C (p.Phe90Leu)
|
rs2095900572
|
|
|
NM_000256.3(MYBPC3):c.2693C>T (p.Ala898Val)
|
rs752354801
|
|
|
NM_000256.3(MYBPC3):c.2702T>C (p.Leu901Pro)
|
rs767113733
|
|
|
NM_000256.3(MYBPC3):c.2703G>A (p.Leu901=)
|
rs1037394922
|
|
|
NM_000256.3(MYBPC3):c.2705A>G (p.Asp902Gly)
|
rs959418808
|
|
|
NM_000256.3(MYBPC3):c.2705A>T (p.Asp902Val)
|
rs959418808
|
|
|
NM_000256.3(MYBPC3):c.2708G>A (p.Gly903Asp)
|
rs1007623141
|
|
|
NM_000256.3(MYBPC3):c.2715C>A (p.Ser905Arg)
|
rs759920601
|
|
|
NM_000256.3(MYBPC3):c.2715C>T (p.Ser905=)
|
rs759920601
|
|
|
NM_000256.3(MYBPC3):c.2717T>C (p.Val906Ala)
|
rs2095881764
|
|
|
NM_000256.3(MYBPC3):c.2727C>T (p.Cys909=)
|
rs886038822
|
|
|
NM_000256.3(MYBPC3):c.2738-14C>T
|
rs2095881137
|
|
|
NM_000256.3(MYBPC3):c.2738-4C>T
|
rs752196981
|
|
|
NM_000256.3(MYBPC3):c.2738-7C>A
|
rs1224814897
|
|
|
NM_000256.3(MYBPC3):c.2760G>A (p.Leu920=)
|
rs1595842606
|
|
|
NM_000256.3(MYBPC3):c.2778C>T (p.His926=)
|
rs2142853001
|
|
|
NM_000256.3(MYBPC3):c.2784G>A (p.Ser928=)
|
rs372510974
|
|
|
NM_000256.3(MYBPC3):c.2793G>A (p.Val931=)
|
rs2142852982
|
|
|
NM_000256.3(MYBPC3):c.2794A>G (p.Lys932Glu)
|
rs2142852976
|
|
|
NM_000256.3(MYBPC3):c.2811G>A (p.Gly937=)
|
rs2095881023
|
|
|
NM_000256.3(MYBPC3):c.2813C>G (p.Ala938Gly)
|
rs1439755592
|
|
|
NM_000256.3(MYBPC3):c.2816G>C (p.Arg939Pro)
|
rs946763177
|
|
|
NM_000256.3(MYBPC3):c.2823T>C (p.Leu941=)
|
rs1595842525
|
|
|
NM_000256.3(MYBPC3):c.2840A>G (p.His947Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.2842A>G (p.Asn948Asp)
|
rs1156895803
|
|
|
NM_000256.3(MYBPC3):c.2843A>C (p.Asn948Thr)
|
rs121909376
|
|
|
NM_000256.3(MYBPC3):c.2849C>T (p.Ala950Val)
|
rs730880577
|
|
|
NM_000256.3(MYBPC3):c.286G>C (p.Glu96Gln)
|
rs1011673088
|
|
|
NM_000256.3(MYBPC3):c.2874C>T (p.Thr958=)
|
|
|
|
NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs)
|
rs727503182
|
|
|
NM_000256.3(MYBPC3):c.2876C>A (p.Thr959Lys)
|
rs730880697
|
|
|
NM_000256.3(MYBPC3):c.2893C>G (p.Gln965Glu)
|
rs730880578
|
|
|
NM_000256.3(MYBPC3):c.2901C>A (p.Ile967=)
|
rs2095880876
|
|
|
NM_000256.3(MYBPC3):c.2901C>T (p.Ile967=)
|
rs2095880876
|
|
|
NM_000256.3(MYBPC3):c.2904G>C (p.Leu968=)
|
rs747974933
|
|
|
NM_000256.3(MYBPC3):c.2905+1G>A
|
rs397515991
|
|
|
NM_000256.3(MYBPC3):c.2905+448A>G
|
|
|
|
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)
|
rs397515992
|
|
|
NM_000256.3(MYBPC3):c.2906-5C>T
|
rs1595842091
|
|
|
NM_000256.3(MYBPC3):c.292+3A>G
|
rs2142869308
|
|
|
NM_000256.3(MYBPC3):c.292+6A>C
|
|
|
|
NM_000256.3(MYBPC3):c.2926C>T (p.Pro976Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.293-15T>A
|
|
|
|
NM_000256.3(MYBPC3):c.2931G>A (p.Arg977=)
|
rs1595842051
|
|
|
NM_000256.3(MYBPC3):c.2942A>C (p.Gln981Pro)
|
rs730880582
|
|
|
NM_000256.3(MYBPC3):c.2959G>A (p.Val987Ile)
|
rs1565623672
|
|
|
NM_000256.3(MYBPC3):c.2963G>T (p.Gly988Val)
|
rs727504942
|
|
|
NM_000256.3(MYBPC3):c.2965G>A (p.Glu989Lys)
|
rs727503178
|
|
|
NM_000256.3(MYBPC3):c.2965G>C (p.Glu989Gln)
|
rs727503178
|
|
|
NM_000256.3(MYBPC3):c.2982C>T (p.Leu994=)
|
rs745460535
|
|
|
NM_000256.3(MYBPC3):c.2985C>T (p.Ile995=)
|
|
|
|
NM_000256.3(MYBPC3):c.2995-10C>T
|
rs2095879746
|
|
|
NM_000256.3(MYBPC3):c.2995-14T>C
|
rs2095879750
|
|
|
NM_000256.3(MYBPC3):c.2995-9T>A
|
rs1243985803
|
|
|
NM_000256.3(MYBPC3):c.3004_3005del (p.Arg1002fs)
|
|
|
|
NM_000256.3(MYBPC3):c.3018C>G (p.Thr1006=)
|
rs2095879689
|
|
|
NM_000256.3(MYBPC3):c.3048C>G (p.Gly1016=)
|
rs397515998
|
|
|
NM_000256.3(MYBPC3):c.3057G>A (p.Val1019=)
|
rs750618688
|
|
|
NM_000256.3(MYBPC3):c.3065G>A (p.Arg1022His)
|
rs397516000
|
|
|
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile)
|
rs397516002
|
|
|
NM_000256.3(MYBPC3):c.3087C>T (p.Ile1029=)
|
rs201515977
|
|
|
NM_000256.3(MYBPC3):c.308T>G (p.Met103Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.3090G>A (p.Leu1030=)
|
rs770351760
|
|
|
NM_000256.3(MYBPC3):c.3095T>C (p.Ile1032Thr)
|
|
|
|
NM_000256.3(MYBPC3):c.3099G>T (p.Arg1033=)
|
rs1595841830
|
|
|
NM_000256.3(MYBPC3):c.3111C>T (p.Arg1037=)
|
|
|
|
NM_000256.3(MYBPC3):c.3129C>T (p.Tyr1043=)
|
rs573821685
|
|
|
NM_000256.3(MYBPC3):c.3130C>G (p.Gln1044Glu)
|
rs1565623421
|
|
|
NM_000256.3(MYBPC3):c.3142C>A (p.Arg1048Ser)
|
rs11570113
|
|
|
NM_000256.3(MYBPC3):c.3146T>C (p.Ile1049Thr)
|
|
|
|
NM_000256.3(MYBPC3):c.3147T>C (p.Ile1049=)
|
|
|
|
NM_000256.3(MYBPC3):c.315CCCTGC[4] (p.106PA[4])
|
rs1216799257
|
|
|
NM_000256.3(MYBPC3):c.3188T>C (p.Val1063Ala)
|
rs988454775
|
|
|
NM_000256.3(MYBPC3):c.3190+3_3190+4delinsAT
|
rs2142851313
|
|
|
NM_000256.3(MYBPC3):c.3191-15G>C
|
rs1360814250
|
|
|
NM_000256.3(MYBPC3):c.3191-4G>A
|
rs764672273
|
|
|
NM_000256.3(MYBPC3):c.3191-7C>G
|
rs373012629
|
|
|
NM_000256.3(MYBPC3):c.3191-8_3191-7del
|
rs2142851109
|
|
|
NM_000256.3(MYBPC3):c.3192C>G (p.Asp1064Glu)
|
rs2095879164
|
|
|
NM_000256.3(MYBPC3):c.3196C>T (p.Pro1066Ser)
|
rs2095879157
|
|
|
NM_000256.3(MYBPC3):c.3208C>T (p.Gln1070Ter)
|
|
|
|
NM_000256.3(MYBPC3):c.3212A>T (p.Asp1071Val)
|
rs1445937499
|
|
|
NM_000256.3(MYBPC3):c.321C>T (p.Ala107=)
|
|
|
|
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser)
|
rs150786409
|
|
|
NM_000256.3(MYBPC3):c.3224C>T (p.Thr1075Ile)
|
rs150786409
|
|
|
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)
|
rs397516009
|
|
|
NM_000256.3(MYBPC3):c.3236G>A (p.Gly1079Asp)
|
|
|
|
NM_000256.3(MYBPC3):c.323_324inv (p.Pro108Gln)
|
|
|
|
NM_000256.3(MYBPC3):c.3243T>C (p.Asn1081=)
|
rs2095879075
|
|
|
NM_000256.3(MYBPC3):c.3274G>A (p.Val1092Ile)
|
rs778853122
|
|
|
NM_000256.3(MYBPC3):c.327C>G (p.Ala109=)
|
rs1049825051
|
|
|
NM_000256.3(MYBPC3):c.3285G>C (p.Thr1095=)
|
rs367927327
|
|
|
NM_000256.3(MYBPC3):c.3299A>T (p.Tyr1100Phe)
|
rs769925144
|
|
|
NM_000256.3(MYBPC3):c.3303_3304del (p.Val1102fs)
|
|
|
|
NM_000256.3(MYBPC3):c.3315C>T (p.Ala1105=)
|
rs200372325
|
|
|
NM_000256.3(MYBPC3):c.3320AGA[1] (p.Lys1108del)
|
rs767318190
|
|
|
NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs)
|
rs730880672
|
|
|
NM_000256.3(MYBPC3):c.3331-15C>G
|
|
|
|
NM_000256.3(MYBPC3):c.3331-3C>A
|
rs2142850455
|
|
|
NM_000256.3(MYBPC3):c.3331-3C>T
|
|
|
|
NM_000256.3(MYBPC3):c.3333G>C (p.Glu1111Asp)
|
rs1026643094
|
|
|
NM_000256.3(MYBPC3):c.3333G>T (p.Glu1111Asp)
|
|
|
|
NM_000256.3(MYBPC3):c.3335_3337dup (p.Trp1112dup)
|
rs730880673
|
|
|
NM_000256.3(MYBPC3):c.3340A>G (p.Thr1114Ala)
|
rs1595841329
|
|
|
NM_000256.3(MYBPC3):c.3340_3342del (p.Thr1114del)
|
rs763160213
|
|
|
NM_000256.3(MYBPC3):c.3343G>C (p.Val1115Leu)
|
rs531189495
|
|
|
NM_000256.3(MYBPC3):c.3355T>C (p.Tyr1119His)
|
rs2095878685
|
|
|
NM_000256.3(MYBPC3):c.3356A>G (p.Tyr1119Cys)
|
rs1595841315
|
|
|
NM_000256.3(MYBPC3):c.3363C>T (p.Arg1121=)
|
|
|
|
NM_000256.3(MYBPC3):c.3364A>T (p.Thr1122Ser)
|
rs996588721
|
|
|
NM_000256.3(MYBPC3):c.3370T>A (p.Cys1124Ser)
|
rs1360819456
|
|
|
NM_000256.3(MYBPC3):c.3373G>T (p.Val1125Leu)
|
rs121909378
|
|
|
NM_000256.3(MYBPC3):c.3383A>C (p.Glu1128Ala)
|
rs765817791
|
|
|
NM_000256.3(MYBPC3):c.338C>A (p.Ala113Asp)
|
rs730880611
|
|
|
NM_000256.3(MYBPC3):c.3396C>T (p.Gly1132=)
|
rs764298445
|
|
|
NM_000256.3(MYBPC3):c.339C>T (p.Ala113=)
|
rs786204325
|
|
|
NM_000256.3(MYBPC3):c.3402C>G (p.Gly1134=)
|
rs2095878629
|
|
|
NM_000256.3(MYBPC3):c.3407A>G (p.Tyr1136Cys)
|
rs1278059170
|
|
|
NM_000256.3(MYBPC3):c.3433G>A (p.Val1145Ile)
|
rs747606711
|
|
|
NM_000256.3(MYBPC3):c.3438C>T (p.Gly1146=)
|
|
|
|
NM_000256.3(MYBPC3):c.3445G>A (p.Asp1149Asn)
|
rs2095878564
|
|
|
NM_000256.3(MYBPC3):c.3446A>T (p.Asp1149Val)
|
rs2095878563
|
|
|
NM_000256.3(MYBPC3):c.3457A>G (p.Thr1153Ala)
|
rs746297609
|
|
|
NM_000256.3(MYBPC3):c.3471C>T (p.Pro1157=)
|
rs962554743
|
|
|
NM_000256.3(MYBPC3):c.3490+3G>A
|
rs763653429
|
|
|
NM_000256.3(MYBPC3):c.3490G>C (p.Gly1164Arg)
|
rs2095878486
|
|
|
NM_000256.3(MYBPC3):c.3492C>T (p.Gly1164=)
|
rs779273875
|
|
|
NM_000256.3(MYBPC3):c.3506C>T (p.Pro1169Leu)
|
rs2095878381
|
|
|
NM_000256.3(MYBPC3):c.3519G>A (p.Lys1173=)
|
rs1555120305
|
|
|
NM_000256.3(MYBPC3):c.3531C>G (p.Phe1177Leu)
|
rs2095878341
|
|
|
NM_000256.3(MYBPC3):c.3538G>A (p.Ala1180Thr)
|
rs2142849995
|
|
|
NM_000256.3(MYBPC3):c.3544A>C (p.Ser1182Arg)
|
|
|
|
NM_000256.3(MYBPC3):c.3547T>C (p.Phe1183Leu)
|
rs786204359
|
|
|
NM_000256.3(MYBPC3):c.354A>C (p.Gly118=)
|
rs2095899686
|
|
|
NM_000256.3(MYBPC3):c.3555G>T (p.Gln1185His)
|
rs2095878312
|
|
|
NM_000256.3(MYBPC3):c.3564G>T (p.Val1188=)
|
rs1595841075
|
|
|
NM_000256.3(MYBPC3):c.3595A>G (p.Met1199Val)
|
rs1218279399
|
|
|
NM_000256.3(MYBPC3):c.3596T>C (p.Met1199Thr)
|
|
|
|
NM_000256.3(MYBPC3):c.3606T>C (p.Cys1202=)
|
rs1032233055
|
|
|
NM_000256.3(MYBPC3):c.3615G>C (p.Arg1205=)
|
rs771292799
|
|
|
NM_000256.3(MYBPC3):c.3627+1G>A
|
rs397516031
|
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
|
NM_000256.3(MYBPC3):c.3628C>A (p.Pro1210Thr)
|
rs1293774054
|
|
|
NM_000256.3(MYBPC3):c.362C>A (p.Pro121Gln)
|
rs551888783
|
|
|
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu)
|
rs551888783
|
|
|
NM_000256.3(MYBPC3):c.3633G>T (p.Lys1211Asn)
|
rs2095877907
|
|
|
NM_000256.3(MYBPC3):c.3651T>C (p.Asn1217=)
|
rs528649058
|
|
|
NM_000256.3(MYBPC3):c.3662T>C (p.Leu1221Pro)
|
rs2095877881
|
|
|
NM_000256.3(MYBPC3):c.3675C>T (p.Ala1225=)
|
|
|
|
NM_000256.3(MYBPC3):c.3686T>A (p.Met1229Lys)
|
rs2095877823
|
|
|
NM_000256.3(MYBPC3):c.3686T>C (p.Met1229Thr)
|
|
|
|
NM_000256.3(MYBPC3):c.3689del (p.Phe1230fs)
|
|
|
|
NM_000256.3(MYBPC3):c.3716A>G (p.Glu1239Gly)
|
rs1085308024
|
|
|
NM_000256.3(MYBPC3):c.3723A>G (p.Arg1241=)
|
rs1565622343
|
|
|
NM_000256.3(MYBPC3):c.372C>A (p.Ala124=)
|
rs11570046
|
|
|
NM_000256.3(MYBPC3):c.3731G>A (p.Cys1244Tyr)
|
rs2095877743
|
|
|
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)
|
rs193922384
|
|
|
NM_000256.3(MYBPC3):c.3765C>G (p.Ala1255=)
|
rs1354801986
|
|
|
NM_000256.3(MYBPC3):c.3783G>A (p.Glu1261=)
|
rs1036127423
|
|
|
NM_000256.3(MYBPC3):c.378G>T (p.Glu126Asp)
|
|
|
|
NM_000256.3(MYBPC3):c.3790T>C (p.Cys1264Arg)
|
rs2142849221
|
|
|
NM_000256.3(MYBPC3):c.3799C>G (p.Arg1267Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.3801C>T (p.Arg1267=)
|
rs541377415
|
|
|
NM_000256.3(MYBPC3):c.3808G>T (p.Val1270Leu)
|
rs1064796634
|
|
|
NM_000256.3(MYBPC3):c.3815-11_3815-9del
|
rs1329380245
|
|
|
NM_000256.3(MYBPC3):c.3815-16del
|
rs1565621965
|
|
|
NM_000256.3(MYBPC3):c.3815-1G>A
|
rs397516044
|
|
|
NM_000256.3(MYBPC3):c.392C>T (p.Ala131Val)
|
rs2095899612
|
|
|
NM_000256.3(MYBPC3):c.406+6A>G
|
rs2095899577
|
|
|
NM_000256.3(MYBPC3):c.407-4A>G
|
rs2095899066
|
|
|
NM_000256.3(MYBPC3):c.407-7C>A
|
rs1595849981
|
|
|
NM_000256.3(MYBPC3):c.437C>A (p.Thr146Asn)
|
rs780458215
|
|
|
NM_000256.3(MYBPC3):c.445G>T (p.Ala149Ser)
|
rs2095898977
|
|
|
NM_000256.3(MYBPC3):c.446C>G (p.Ala149Gly)
|
rs779493486
|
|
|
NM_000256.3(MYBPC3):c.446C>T (p.Ala149Val)
|
rs779493486
|
|
|
NM_000256.3(MYBPC3):c.449C>T (p.Pro150Leu)
|
rs2095898975
|
|
|
NM_000256.3(MYBPC3):c.458C>A (p.Pro153His)
|
rs756328813
|
|
|
NM_000256.3(MYBPC3):c.460A>T (p.Ile154Phe)
|
rs2142868165
|
|
|
NM_000256.3(MYBPC3):c.475A>G (p.Met159Val)
|
|
|
|
NM_000256.3(MYBPC3):c.476T>G (p.Met159Arg)
|
rs1305012073
|
|
|
NM_000256.3(MYBPC3):c.485A>T (p.Gln162Leu)
|
rs1565631087
|
|
|
NM_000256.3(MYBPC3):c.489T>C (p.Asp163=)
|
|
|
|
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala)
|
rs727505267
|
|
|
NM_000256.3(MYBPC3):c.505G>C (p.Gly169Arg)
|
rs886039212
|
|
|
NM_000256.3(MYBPC3):c.506-12_506-9delinsTT
|
rs2095898684
|
|
|
NM_000256.3(MYBPC3):c.506-12_506-9delinsTTT
|
rs2095898684
|
|
|
NM_000256.3(MYBPC3):c.506-12del
|
rs11570050
|
|
|
NM_000256.3(MYBPC3):c.506-17_506-15delinsTG
|
rs2095898708
|
|
|
NM_000256.3(MYBPC3):c.506-2A>C
|
rs397516057
|
|
|
NM_000256.3(MYBPC3):c.519C>T (p.Thr173=)
|
rs2095898651
|
|
|
NM_000256.3(MYBPC3):c.529C>G (p.Arg177Gly)
|
rs193922385
|
|
|
NM_000256.3(MYBPC3):c.532G>A (p.Val178Met)
|
rs727503218
|
|
|
NM_000256.3(MYBPC3):c.539G>A (p.Gly180Asp)
|
rs867571018
|
|
|
NM_000256.3(MYBPC3):c.53C>A (p.Ser18Ter)
|
|
|
|
NM_000256.3(MYBPC3):c.53C>T (p.Ser18Leu)
|
|
|
|
NM_000256.3(MYBPC3):c.541G>A (p.Ala181Thr)
|
rs773646282
|
|
|
NM_000256.3(MYBPC3):c.541G>T (p.Ala181Ser)
|
rs773646282
|
|
|
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=)
|
rs370962887
|
|
|
NM_000256.3(MYBPC3):c.566T>A (p.Val189Asp)
|
rs397516060
|
|
|
NM_000256.3(MYBPC3):c.579G>A (p.Lys193=)
|
rs2095898518
|
|
|
NM_000256.3(MYBPC3):c.580G>T (p.Gly194Cys)
|
rs2095898517
|
|
|
NM_000256.3(MYBPC3):c.587G>A (p.Trp196Ter)
|
rs2095898504
|
|
|
NM_000256.3(MYBPC3):c.592G>A (p.Asp198Asn)
|
rs2095898499
|
|
|
NM_000256.3(MYBPC3):c.594C>A (p.Asp198Glu)
|
rs1318614905
|
|
|
NM_000256.3(MYBPC3):c.606G>A (p.Lys202=)
|
rs2095898450
|
|
|
NM_000256.3(MYBPC3):c.619C>T (p.Leu207=)
|
rs965921552
|
|
|
NM_000256.3(MYBPC3):c.62T>C (p.Val21Ala)
|
rs1362750360
|
|
|
NM_000256.3(MYBPC3):c.63G>A (p.Val21=)
|
rs2095900994
|
|
|
NM_000256.3(MYBPC3):c.642C>A (p.Asp214Glu)
|
rs1294673404
|
|
|
NM_000256.3(MYBPC3):c.644G>C (p.Arg215Pro)
|
rs775580020
|
|
|
NM_000256.3(MYBPC3):c.653A>G (p.Lys218Arg)
|
rs730880707
|
|
|
NM_000256.3(MYBPC3):c.655-10A>G
|
|
|
|
NM_000256.3(MYBPC3):c.655-11C>T
|
rs2095896913
|
|
|
NM_000256.3(MYBPC3):c.655-12C>G
|
|
|
|
NM_000256.3(MYBPC3):c.655-6A>C
|
rs2142866421
|
|
|
NM_000256.3(MYBPC3):c.655-7C>A
|
rs2095896909
|
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
|
NM_000256.3(MYBPC3):c.65_66insG (p.Ala23fs)
|
rs1060501479
|
|
|
NM_000256.3(MYBPC3):c.676A>G (p.Ile226Val)
|
rs1336201335
|
|
|
NM_000256.3(MYBPC3):c.677T>C (p.Ile226Thr)
|
|
|
|
NM_000256.3(MYBPC3):c.683A>G (p.Asp228Gly)
|
rs2142866342
|
|
|
NM_000256.3(MYBPC3):c.69A>G (p.Ala23=)
|
rs1385821757
|
|
|
NM_000256.3(MYBPC3):c.705_706inv (p.Ser236Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.735C>A (p.Asp245Glu)
|
rs2095896763
|
|
|
NM_000256.3(MYBPC3):c.754T>C (p.Phe252Leu)
|
rs1565630281
|
|
|
NM_000256.3(MYBPC3):c.768C>A (p.Val256=)
|
rs886048382
|
|
|
NM_000256.3(MYBPC3):c.76C>T (p.Pro26Ser)
|
|
|
|
NM_000256.3(MYBPC3):c.773-11_773-10dup
|
rs2095896066
|
|
|
NM_000256.3(MYBPC3):c.776C>G (p.Ala259Gly)
|
rs187455402
|
|
|
NM_000256.3(MYBPC3):c.779T>C (p.Met260Thr)
|
rs1173563116
|
|
|
NM_000256.3(MYBPC3):c.797A>G (p.Asp266Gly)
|
rs1595848603
|
|
|
NM_000256.3(MYBPC3):c.821C>A (p.Thr274Lys)
|
rs748746951
|
|
|
NM_000256.3(MYBPC3):c.822-2A>T
|
rs1245855037
|
|
|
NM_000256.3(MYBPC3):c.833del (p.Gly278fs)
|
rs727503212
|
|
|
NM_000256.3(MYBPC3):c.841C>A (p.Arg281=)
|
rs371711564
|
|
|
NM_000256.3(MYBPC3):c.841C>G (p.Arg281Gly)
|
rs371711564
|
|
|
NM_000256.3(MYBPC3):c.851+5C>T
|
|
|
|
NM_000256.3(MYBPC3):c.852-13T>G
|
|
|
|
NM_000256.3(MYBPC3):c.852-1G>T
|
rs368121566
|
|
|
NM_000256.3(MYBPC3):c.852-3T>C
|
rs2095895431
|
|
|
NM_000256.3(MYBPC3):c.867del (p.Asp289fs)
|
|
|
|
NM_000256.3(MYBPC3):c.86T>C (p.Phe29Ser)
|
rs2095900955
|
|
|
NM_000256.3(MYBPC3):c.871G>A (p.Gly291Arg)
|
rs2095895406
|
|
|
NM_000256.3(MYBPC3):c.873G>A (p.Gly291=)
|
|
|
|
NM_000256.3(MYBPC3):c.887G>A (p.Ser296Asn)
|
rs1595848305
|
|
|
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter)
|
rs730880629
|
|
|
NM_000256.3(MYBPC3):c.905+1G>T
|
rs767698543
|
|
|
NM_000256.3(MYBPC3):c.905+7C>G
|
rs2095895367
|
|
|
NM_000256.3(MYBPC3):c.905G>C (p.Arg302Thr)
|
rs1414396886
|
|
|
NM_000256.3(MYBPC3):c.906-20CTG[3]
|
rs751038432
|
|
|
NM_000256.3(MYBPC3):c.906-35G>T
|
|
|
|
NM_000256.3(MYBPC3):c.906-36G>A
|
rs864622197
|
|
|
NM_000256.3(MYBPC3):c.909-11C>A
|
rs1198046425
|
|
|
NM_000256.3(MYBPC3):c.909-4G>C
|
rs2095894485
|
|
|
NM_000256.3(MYBPC3):c.909-6G>A
|
rs962907671
|
|
|
NM_000256.3(MYBPC3):c.909C>T (p.Asp303=)
|
rs200713257
|
|
|
NM_000256.3(MYBPC3):c.921C>A (p.Thr307=)
|
rs370632180
|
|
|
NM_000256.3(MYBPC3):c.922C>T (p.Pro308Ser)
|
rs1565629496
|
|
|
NM_000256.3(MYBPC3):c.927-11G>T
|
rs2095894194
|
|
|
NM_000256.3(MYBPC3):c.932C>T (p.Ser311Leu)
|
rs193922386
|
|
|
NM_000256.3(MYBPC3):c.933G>A (p.Ser311=)
|
rs374326087
|
|
|
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=)
|
rs374326087
|
|
|
NM_000256.3(MYBPC3):c.937C>T (p.Leu313=)
|
rs1487512291
|
|
|
NM_000256.3(MYBPC3):c.942G>T (p.Glu314Asp)
|
|
|
|
NM_000256.3(MYBPC3):c.946C>A (p.Pro316Thr)
|
rs2095894126
|
|
|
NM_000256.3(MYBPC3):c.954G>A (p.Glu318=)
|
|
|
|
NM_000256.3(MYBPC3):c.963G>C (p.Val321=)
|
rs1359648001
|
|
|
NM_000256.3(MYBPC3):c.983C>T (p.Ala328Val)
|
rs2095894054
|
|
|
NM_000256.3(MYBPC3):c.988C>A (p.Pro330Thr)
|
rs1369307553
|
|
|
NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs)
|
rs745811346
|
|
|
NM_000256.3(MYBPC3):c.999del (p.Glu332_Tyr333insTer)
|
|
|
|
NM_000257.4(MYH7):c.-7C>A
|
rs876657890
|
|
|
NM_000257.4(MYH7):c.-8G>T
|
|
|
|
NM_000257.4(MYH7):c.1000-11C>A
|
|
|
|
NM_000257.4(MYH7):c.1000-3C>T
|
rs1892859272
|
|
|
NM_000257.4(MYH7):c.1000A>G (p.Asn334Asp)
|
rs1275864764
|
|
|
NM_000257.4(MYH7):c.1020C>A (p.Gly340=)
|
rs1301955127
|
|
|
NM_000257.4(MYH7):c.1044C>T (p.Ser348=)
|
rs1892856878
|
|
|
NM_000257.4(MYH7):c.1059A>T (p.Thr353=)
|
rs1555338461
|
|
|
NM_000257.4(MYH7):c.1062C>A (p.Gly354=)
|
rs735712
|
|
|
NM_000257.4(MYH7):c.1075T>G (p.Phe359Val)
|
rs2138677363
|
|
|
NM_000257.4(MYH7):c.1085T>C (p.Met362Thr)
|
rs1210839181
|
|
|
NM_000257.4(MYH7):c.1122G>A (p.Glu374=)
|
rs1111163
|
|
|
NM_000257.4(MYH7):c.1128C>A (p.Asp376Glu)
|
rs2231126
|
|
|
NM_000257.4(MYH7):c.1129G>A (p.Gly377Ser)
|
rs773599095
|
|
|
NM_000257.4(MYH7):c.1139-13C>G
|
rs1057524644
|
|
|
NM_000257.4(MYH7):c.1149G>A (p.Lys383=)
|
rs1378946537
|
|
|
NM_000257.4(MYH7):c.1158C>T (p.Tyr386=)
|
rs1892827255
|
|
|
NM_000257.4(MYH7):c.1188C>T (p.Leu396=)
|
|
|
|
NM_000257.4(MYH7):c.1245G>A (p.Gln415=)
|
rs606231320
|
|
|
NM_000257.4(MYH7):c.1248T>C (p.Asn416=)
|
|
|
|
NM_000257.4(MYH7):c.1258-3_1258-2delinsAT
|
rs1555338344
|
|
|
NM_000257.4(MYH7):c.1258-9A>T
|
rs1892817047
|
|
|
NM_000257.4(MYH7):c.1269C>T (p.Ala423=)
|
rs727503267
|
|
|
NM_000257.4(MYH7):c.1276G>A (p.Ala426Thr)
|
|
|
|
NM_000257.4(MYH7):c.1299G>A (p.Glu433=)
|
rs1892814899
|
|
|
NM_000257.4(MYH7):c.129del (p.Lys43fs)
|
rs1364012197
|
|
|
NM_000257.4(MYH7):c.1302G>T (p.Arg434Ser)
|
|
|
|
NM_000257.4(MYH7):c.1323G>C (p.Thr441=)
|
rs397516096
|
|
|
NM_000257.4(MYH7):c.132G>A (p.Gln44=)
|
|
|
|
NM_000257.4(MYH7):c.1353G>A (p.Gln451=)
|
rs144047238
|
|
|
NM_000257.4(MYH7):c.1361dup (p.Tyr455fs)
|
|
|
|
NM_000257.4(MYH7):c.1386C>A (p.Ile462=)
|
rs1432051238
|
|
|
NM_000257.4(MYH7):c.1408-11G>T
|
rs1892796736
|
|
|
NM_000257.4(MYH7):c.1408-6del
|
rs1892796424
|
|
|
NM_000257.4(MYH7):c.1408-8C>T
|
rs764196309
|
|
|
NM_000257.4(MYH7):c.1413C>G (p.Asn471Lys)
|
|
|
|
NM_000257.4(MYH7):c.1453C>T (p.Leu485=)
|
rs1595086332
|
|
|
NM_000257.4(MYH7):c.1463_1464insGGTGCAGTGG (p.Phe488fs)
|
rs1892794319
|
|
|
NM_000257.4(MYH7):c.1488G>A (p.Leu496=)
|
rs1892793117
|
|
|
NM_000257.4(MYH7):c.1494G>A (p.Gln498=)
|
|
|
|
NM_000257.4(MYH7):c.1512G>A (p.Glu504=)
|
rs1892791687
|
|
|
NM_000257.4(MYH7):c.1534G>A (p.Asp512Asn)
|
rs1566534648
|
|
|
NM_000257.4(MYH7):c.154G>C (p.Val52Leu)
|
rs730880919
|
|
|
NM_000257.4(MYH7):c.1559G>A (p.Cys520Tyr)
|
rs1892789510
|
|
|
NM_000257.4(MYH7):c.1569C>T (p.Leu523=)
|
rs1057520331
|
|
|
NM_000257.4(MYH7):c.1578+1G>A
|
rs1892788026
|
|
|
NM_000257.4(MYH7):c.1578+1G>T
|
rs1892788026
|
|
|
NM_000257.4(MYH7):c.1588A>G (p.Ile530Val)
|
rs771831848
|
|
|
NM_000257.4(MYH7):c.158C>A (p.Ser53Tyr)
|
rs1893034734
|
|
|
NM_000257.4(MYH7):c.1592T>C (p.Met531Thr)
|
rs1892758684
|
|
|
NM_000257.4(MYH7):c.1596C>A (p.Ser532=)
|
rs745682419
|
|
|
NM_000257.4(MYH7):c.1602G>A (p.Leu534=)
|
rs1566534221
|
|
|
NM_000257.4(MYH7):c.1623C>T (p.Pro541=)
|
rs1892756581
|
|
|
NM_000257.4(MYH7):c.1632C>A (p.Thr544=)
|
rs587781089
|
|
|
NM_000257.4(MYH7):c.1635C>T (p.Asp545=)
|
rs1566534173
|
|
|
NM_000257.4(MYH7):c.1649C>A (p.Ala550Asp)
|
rs1188606962
|
|
|
NM_000257.4(MYH7):c.1654C>G (p.Leu552Val)
|
rs1892755053
|
|
|
NM_000257.4(MYH7):c.166G>T (p.Gly56Cys)
|
rs759500431
|
|
|
NM_000257.4(MYH7):c.1684A>C (p.Asn562His)
|
rs397516118
|
|
|
NM_000257.4(MYH7):c.1703A>G (p.Asn568Ser)
|
rs1892752744
|
|
|
NM_000257.4(MYH7):c.1720G>C (p.Glu574Gln)
|
rs1892752183
|
|
|
NM_000257.4(MYH7):c.1722A>G (p.Glu574=)
|
rs1892752085
|
|
|
NM_000257.4(MYH7):c.1731C>T (p.Phe577=)
|
rs2138672266
|
|
|
NM_000257.4(MYH7):c.1734C>T (p.Ser578=)
|
|
|
|
NM_000257.4(MYH7):c.1755C>A (p.Ile585=)
|
rs201860580
|
|
|
NM_000257.4(MYH7):c.1755C>T (p.Ile585=)
|
rs201860580
|
|
|
NM_000257.4(MYH7):c.1764C>A (p.Tyr588Ter)
|
|
|
|
NM_000257.4(MYH7):c.1773T>C (p.Ile591=)
|
rs1892749322
|
|
|
NM_000257.4(MYH7):c.1815C>G (p.Val605=)
|
rs759226950
|
|
|
NM_000257.4(MYH7):c.1815C>T (p.Val605=)
|
rs759226950
|
|
|
NM_000257.4(MYH7):c.1824G>A (p.Leu608=)
|
rs2138671993
|
|
|
NM_000257.4(MYH7):c.1834T>G (p.Ser612Ala)
|
|
|
|
NM_000257.4(MYH7):c.1836T>G (p.Ser612=)
|
rs1444724812
|
|
|
NM_000257.4(MYH7):c.1839C>T (p.Ser613=)
|
rs1892745865
|
|
|
NM_000257.4(MYH7):c.183C>T (p.Ala61=)
|
rs370743876
|
|
|
NM_000257.4(MYH7):c.1844A>G (p.Lys615Arg)
|
rs1892745662
|
|
|
NM_000257.4(MYH7):c.184G>C (p.Glu62Gln)
|
rs727504416
|
|
|
NM_000257.4(MYH7):c.1864G>T (p.Ala622Ser)
|
rs150153771
|
|
|
NM_000257.4(MYH7):c.1879G>A (p.Ala627Thr)
|
rs1174863002
|
|
|
NM_000257.4(MYH7):c.1884T>C (p.Asp628=)
|
rs772814092
|
|
|
NM_000257.4(MYH7):c.1887G>T (p.Ala629=)
|
rs376572023
|
|
|
NM_000257.4(MYH7):c.1888+1G>A
|
rs113186231
|
|
|
NM_000257.4(MYH7):c.1888+3A>T
|
|
|
|
NM_000257.4(MYH7):c.1889-3C>T
|
rs1892731646
|
|
|
NM_000257.4(MYH7):c.1889-6C>T
|
rs2138671291
|
|
|
NM_000257.4(MYH7):c.190G>A (p.Glu64Lys)
|
|
|
|
NM_000257.4(MYH7):c.1917G>A (p.Lys639=)
|
rs1057523883
|
|
|
NM_000257.4(MYH7):c.1938T>G (p.Thr646=)
|
rs1892729547
|
|
|
NM_000257.4(MYH7):c.193T>C (p.Tyr65His)
|
rs2138686468
|
|
|
NM_000257.4(MYH7):c.1951C>T (p.His651Tyr)
|
rs1892728751
|
|
|
NM_000257.4(MYH7):c.1952A>G (p.His651Arg)
|
rs606231328
|
|
|
NM_000257.4(MYH7):c.1956+1G>A
|
rs1555338074
|
|
|
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)
|
rs397516127
|
|
|
NM_000257.4(MYH7):c.2006T>G (p.Phe669Cys)
|
rs1892712215
|
|
|
NM_000257.4(MYH7):c.202-3C>T
|
rs112935906
|
|
|
NM_000257.4(MYH7):c.202-9del
|
rs1893020561
|
|
|
NM_000257.4(MYH7):c.2021_2022del (p.Ile674fs)
|
|
|
|
NM_000257.4(MYH7):c.2022C>A (p.Ile674=)
|
rs1892711463
|
|
|
NM_000257.4(MYH7):c.202A>G (p.Thr68Ala)
|
|
|
|
NM_000257.4(MYH7):c.2041C>T (p.Pro681Ser)
|
rs1566533236
|
|
|
NM_000257.4(MYH7):c.2044+3G>A
|
rs1892710460
|
|
|
NM_000257.4(MYH7):c.2044+5G>C
|
rs1892710272
|
|
|
NM_000257.4(MYH7):c.2045-8T>C
|
|
|
|
NM_000257.4(MYH7):c.2053del (p.Asp685fs)
|
rs1566532860
|
|
|
NM_000257.4(MYH7):c.2067C>A (p.Val689=)
|
rs1162320803
|
|
|
NM_000257.4(MYH7):c.210C>A (p.Thr70=)
|
rs774429242
|
|
|
NM_000257.4(MYH7):c.212T>C (p.Val71Ala)
|
rs1376905623
|
|
|
NM_000257.4(MYH7):c.2136C>T (p.Arg712=)
|
|
|
|
NM_000257.4(MYH7):c.2140C>A (p.Leu714Ile)
|
rs1892682030
|
|
|
NM_000257.4(MYH7):c.2163-1G>C
|
rs606231334
|
|
|
NM_000257.4(MYH7):c.2163-8del
|
rs1892675036
|
|
|
NM_000257.4(MYH7):c.2178C>T (p.Asn726=)
|
rs397516137
|
|
|
NM_000257.4(MYH7):c.2196G>C (p.Glu732Asp)
|
rs1465544124
|
|
|
NM_000257.4(MYH7):c.2217G>A (p.Arg739=)
|
rs727504429
|
|
|
NM_000257.4(MYH7):c.2220G>T (p.Lys740Asn)
|
|
|
|
NM_000257.4(MYH7):c.2224G>A (p.Ala742Thr)
|
rs769396106
|
|
|
NM_000257.4(MYH7):c.2228A>G (p.Glu743Gly)
|
rs1892669315
|
|
|
NM_000257.4(MYH7):c.2248G>C (p.Asp750His)
|
rs1208712277
|
|
|
NM_000257.4(MYH7):c.2250C>T (p.Asp750=)
|
rs144942248
|
|
|
NM_000257.4(MYH7):c.2251A>G (p.Ile751Val)
|
rs1892668023
|
|
|
NM_000257.4(MYH7):c.2251A>T (p.Ile751Phe)
|
rs1892668023
|
|
|
NM_000257.4(MYH7):c.2267A>T (p.Tyr756Phe)
|
|
|
|
NM_000257.4(MYH7):c.2268C>T (p.Tyr756=)
|
rs1892667052
|
|
|
NM_000257.4(MYH7):c.2280C>T (p.His760=)
|
rs1892666788
|
|
|
NM_000257.4(MYH7):c.2286+1G>T
|
rs1064796489
|
|
|
NM_000257.4(MYH7):c.2287-4G>A
|
rs1231476855
|
|
|
NM_000257.4(MYH7):c.2287G>A (p.Val763Met)
|
rs727504253
|
|
|
NM_000257.4(MYH7):c.2289G>A (p.Val763=)
|
|
|
|
NM_000257.4(MYH7):c.2301C>T (p.Ala767=)
|
rs768380939
|
|
|
NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys)
|
rs727503258
|
|
|
NM_000257.4(MYH7):c.2348G>T (p.Arg783Leu)
|
rs397516142
|
|
|
NM_000257.4(MYH7):c.2356A>G (p.Thr786Ala)
|
rs1892652051
|
|
|
NM_000257.4(MYH7):c.2357C>A (p.Thr786Lys)
|
|
|
|
NM_000257.4(MYH7):c.2358G>T (p.Thr786=)
|
rs36211714
|
|
|
NM_000257.4(MYH7):c.2377C>T (p.Arg793Ter)
|
rs140175704
|
|
|
NM_000257.4(MYH7):c.2388C>T (p.Leu796=)
|
rs397516144
|
|
|
NM_000257.4(MYH7):c.2400G>T (p.Glu800Asp)
|
rs730880737
|
|
|
NM_000257.4(MYH7):c.2403C>T (p.Tyr801=)
|
rs775113608
|
|
|
NM_000257.4(MYH7):c.2423+1G>A
|
rs113580172
|
|
|
NM_000257.4(MYH7):c.2424-1G>T
|
rs1892639476
|
|
|
NM_000257.4(MYH7):c.2424-6del
|
rs748311799
|
|
|
NM_000257.4(MYH7):c.2424-7C>T
|
rs759141144
|
|
|
NM_000257.4(MYH7):c.2424-8C>A
|
rs767171610
|
|
|
NM_000257.4(MYH7):c.2455C>T (p.Arg819Trp)
|
rs1064793206
|
|
|
NM_000257.4(MYH7):c.2523G>A (p.Lys841=)
|
rs1892634440
|
|
|
NM_000257.4(MYH7):c.2525G>C (p.Ser842Thr)
|
rs397516154
|
|
|
NM_000257.4(MYH7):c.2548G>A (p.Ala850Thr)
|
rs1060499880
|
|
|
NM_000257.4(MYH7):c.2562G>T (p.Glu854Asp)
|
rs778148245
|
|
|
NM_000257.4(MYH7):c.2579A>G (p.Lys860Arg)
|
rs1892630499
|
|
|
NM_000257.4(MYH7):c.2582A>G (p.Glu861Gly)
|
rs1236517740
|
|
|
NM_000257.4(MYH7):c.2587C>A (p.Leu863Ile)
|
rs1595082485
|
|
|
NM_000257.4(MYH7):c.2594A>T (p.Lys865Met)
|
rs758891557
|
|
|
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)
|
rs727504356
|
|
|
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys)
|
rs730880750
|
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
|
|
NM_000257.4(MYH7):c.261C>A (p.Ile87=)
|
rs148560996
|
|
|
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile)
|
rs1060505018
|
|
|
NM_000257.4(MYH7):c.2640G>A (p.Leu880=)
|
|
|
|
NM_000257.4(MYH7):c.2646G>A (p.Gln882=)
|
rs1566531295
|
|
|
NM_000257.4(MYH7):c.2653A>T (p.Asn885Tyr)
|
rs1892625736
|
|
|
NM_000257.4(MYH7):c.2677G>T (p.Ala893Ser)
|
rs750204313
|
|
|
NM_000257.4(MYH7):c.2679+6G>A
|
|
|
|
NM_000257.4(MYH7):c.2680-3C>T
|
rs111777242
|
|
|
NM_000257.4(MYH7):c.2684A>G (p.Gln895Arg)
|
rs1892600025
|
|
|
NM_000257.4(MYH7):c.2709G>T (p.Glu903Asp)
|
rs773468693
|
|
|
NM_000257.4(MYH7):c.2714G>T (p.Cys905Phe)
|
rs730880757
|
|
|
NM_000257.4(MYH7):c.2731A>T (p.Asn911Tyr)
|
rs1566530777
|
|
|
NM_000257.4(MYH7):c.2737A>G (p.Ile913Val)
|
rs1892595728
|
|
|
NM_000257.4(MYH7):c.2742G>T (p.Gln914His)
|
rs727504404
|
|
|
NM_000257.4(MYH7):c.275T>C (p.Met92Thr)
|
rs2138685614
|
|
|
NM_000257.4(MYH7):c.2762A>C (p.Glu921Ala)
|
rs779467831
|
|
|
NM_000257.4(MYH7):c.2766G>C (p.Met922Ile)
|
|
|
|
NM_000257.4(MYH7):c.2775G>A (p.Arg925=)
|
|
|
|
NM_000257.4(MYH7):c.2778G>A (p.Leu926=)
|
|
|
|
NM_000257.4(MYH7):c.2786dup (p.Glu930fs)
|
rs2138663618
|
|
|
NM_000257.4(MYH7):c.2805G>A (p.Glu935=)
|
rs201032556
|
|
|
NM_000257.4(MYH7):c.2812G>T (p.Ala938Ser)
|
rs763082533
|
|
|
NM_000257.4(MYH7):c.2819A>T (p.Lys940Met)
|
rs1892589863
|
|
|
NM_000257.4(MYH7):c.2821C>A (p.Arg941Ser)
|
rs750435648
|
|
|
NM_000257.4(MYH7):c.2821C>T (p.Arg941Cys)
|
rs750435648
|
|
|
NM_000257.4(MYH7):c.2823C>T (p.Arg941=)
|
rs727503251
|
|
|
NM_000257.4(MYH7):c.2841C>A (p.Cys947Ter)
|
rs1892589158
|
|
|
NM_000257.4(MYH7):c.2889A>G (p.Lys963=)
|
rs549675692
|
|
|
NM_000257.4(MYH7):c.2894A>T (p.Glu965Val)
|
rs1473734002
|
|
|
NM_000257.4(MYH7):c.2908G>T (p.Ala970Ser)
|
rs1446657813
|
|
|
NM_000257.4(MYH7):c.2922+1G>A
|
|
|
|
NM_000257.4(MYH7):c.2923-4G>A
|
rs1391789257
|
|
|
NM_000257.4(MYH7):c.2923-4G>C
|
rs1391789257
|
|
|
NM_000257.4(MYH7):c.2923-6C>A
|
rs587781082
|
|
|
NM_000257.4(MYH7):c.2981A>C (p.Lys994Thr)
|
rs1298804415
|
|
|
NM_000257.4(MYH7):c.2987A>G (p.Lys996Arg)
|
|
|
|
NM_000257.4(MYH7):c.298G>A (p.Ala100Thr)
|
rs730880154
|
|
|
NM_000257.4(MYH7):c.300G>T (p.Ala100=)
|
|
|
|
NM_000257.4(MYH7):c.3019C>G (p.Leu1007Val)
|
rs1308445601
|
|
|
NM_000257.4(MYH7):c.3030T>G (p.Leu1010=)
|
rs747004925
|
|
|
NM_000257.4(MYH7):c.3037G>C (p.Glu1013Gln)
|
rs730880764
|
|
|
NM_000257.4(MYH7):c.3051C>T (p.Val1017=)
|
rs1764875620
|
|
|
NM_000257.4(MYH7):c.3067G>A (p.Ala1023Thr)
|
rs1595081240
|
|
|
NM_000257.4(MYH7):c.3068C>T (p.Ala1023Val)
|
rs767004235
|
|
|
NM_000257.4(MYH7):c.3075C>T (p.Val1025=)
|
|
|
|
NM_000257.4(MYH7):c.3084G>A (p.Glu1028=)
|
rs2138662312
|
|
|
NM_000257.4(MYH7):c.3090A>C (p.Gln1030His)
|
rs765570412
|
|
|
NM_000257.4(MYH7):c.3099T>A (p.Asp1033Glu)
|
rs761574227
|
|
|
NM_000257.4(MYH7):c.3100-11C>G
|
rs751991999
|
|
|
NM_000257.4(MYH7):c.3100-11CT[4]
|
rs780476751
|
|
|
NM_000257.4(MYH7):c.3100-15C>T
|
rs534114622
|
|
|
NM_000257.4(MYH7):c.3100-3C>T
|
rs111761637
|
|
|
NM_000257.4(MYH7):c.3100-5A>G
|
rs780522390
|
|
|
NM_000257.4(MYH7):c.3110C>G (p.Ser1037Cys)
|
rs1159928168
|
|
|
NM_000257.4(MYH7):c.3111C>G (p.Ser1037=)
|
|
|
|
NM_000257.4(MYH7):c.3128A>G (p.Lys1043Arg)
|
rs1892505925
|
|
|
NM_000257.4(MYH7):c.3130G>T (p.Val1044Leu)
|
rs2138659105
|
|
|
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)
|
rs397516178
|
|
|
NM_000257.4(MYH7):c.3136A>G (p.Met1046Val)
|
rs1566529310
|
|
|
NM_000257.4(MYH7):c.3139G>C (p.Asp1047His)
|
|
|
|
NM_000257.4(MYH7):c.3151G>A (p.Ala1051Thr)
|
|
|
|
NM_000257.4(MYH7):c.3154A>G (p.Lys1052Glu)
|
rs1566529274
|
|
|
NM_000257.4(MYH7):c.3157C>T (p.Arg1053Trp)
|
rs730880903
|
|
|
NM_000257.4(MYH7):c.3162G>A (p.Lys1054=)
|
rs1295046089
|
|
|
NM_000257.4(MYH7):c.3177G>T (p.Leu1059=)
|
rs746453011
|
|
|
NM_000257.4(MYH7):c.3207G>C (p.Leu1069=)
|
rs1892500369
|
|
|
NM_000257.4(MYH7):c.3210G>A (p.Glu1070=)
|
rs1892499979
|
|
|
NM_000257.4(MYH7):c.3213T>C (p.Asn1071=)
|
rs1595079935
|
|
|
NM_000257.4(MYH7):c.323G>A (p.Arg108His)
|
rs730880832
|
|
|
NM_000257.4(MYH7):c.3246-6C>G
|
|
|
|
NM_000257.4(MYH7):c.3267T>G (p.Ala1089=)
|
rs1456297955
|
|
|
NM_000257.4(MYH7):c.328G>T (p.Gly110Cys)
|
|
|
|
NM_000257.4(MYH7):c.3294G>C (p.Gln1098His)
|
rs375323916
|
|
|
NM_000257.4(MYH7):c.3294G>T (p.Gln1098His)
|
rs375323916
|
|
|
NM_000257.4(MYH7):c.3303C>T (p.Gly1101=)
|
rs2138656199
|
|
|
NM_000257.4(MYH7):c.3318G>T (p.Lys1106Asn)
|
|
|
|
NM_000257.4(MYH7):c.3323T>C (p.Leu1108Pro)
|
|
|
|
NM_000257.4(MYH7):c.3324C>G (p.Leu1108=)
|
rs933857323
|
|
|
NM_000257.4(MYH7):c.3324C>T (p.Leu1108=)
|
rs933857323
|
|
|
NM_000257.4(MYH7):c.3331C>T (p.Leu1111Phe)
|
rs1346156456
|
|
|
NM_000257.4(MYH7):c.3337-2_3337delinsCAGA
|
rs1892420744
|
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
|
NM_000257.4(MYH7):c.3337-5A>C
|
|
|
|
NM_000257.4(MYH7):c.3337-5_3337-4insT
|
rs779144252
|
|
|
NM_000257.4(MYH7):c.3340C>A (p.Arg1114Ser)
|
rs1204830698
|
|
|
NM_000257.4(MYH7):c.3340C>T (p.Arg1114Cys)
|
rs1204830698
|
|
|
NM_000257.4(MYH7):c.3352C>T (p.Leu1118=)
|
|
|
|
NM_000257.4(MYH7):c.3354G>A (p.Leu1118=)
|
|
|
|
NM_000257.4(MYH7):c.3363G>A (p.Glu1121=)
|
|
|
|
NM_000257.4(MYH7):c.3372C>T (p.Ala1124=)
|
rs1372163543
|
|
|
NM_000257.4(MYH7):c.3377G>A (p.Arg1126His)
|
|
|
|
NM_000257.4(MYH7):c.337A>G (p.Met113Val)
|
rs1893014420
|
|
|
NM_000257.4(MYH7):c.3387G>A (p.Arg1129=)
|
rs1566528000
|
|
|
NM_000257.4(MYH7):c.338T>A (p.Met113Lys)
|
rs1595091003
|
|
|
NM_000257.4(MYH7):c.3414C>T (p.Asp1138=)
|
rs1566527962
|
|
|
NM_000257.4(MYH7):c.3415C>T (p.Leu1139=)
|
|
|
|
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr)
|
rs730880833
|
|
|
NM_000257.4(MYH7):c.3421C>T (p.Arg1141Trp)
|
|
|
|
NM_000257.4(MYH7):c.3422G>A (p.Arg1141Gln)
|
rs1407919500
|
|
|
NM_000257.4(MYH7):c.3432G>A (p.Glu1144=)
|
rs552605072
|
|
|
NM_000257.4(MYH7):c.3441C>G (p.Ser1147Arg)
|
rs1892414802
|
|
|
NM_000257.4(MYH7):c.345+1G>A
|
rs112907315
|
|
|
NM_000257.4(MYH7):c.346-15_346-10del
|
rs1893003165
|
|
|
NM_000257.4(MYH7):c.346-4C>G
|
rs1470520864
|
|
|
NM_000257.4(MYH7):c.346-6C>G
|
rs1179088209
|
|
|
NM_000257.4(MYH7):c.3460G>A (p.Gly1154Ser)
|
rs1211784451
|
|
|
NM_000257.4(MYH7):c.3465G>A (p.Gly1155=)
|
|
|
|
NM_000257.4(MYH7):c.3483C>T (p.Ile1161=)
|
|
|
|
NM_000257.4(MYH7):c.3484G>T (p.Glu1162Ter)
|
|
|
|
NM_000257.4(MYH7):c.3502G>A (p.Glu1168Lys)
|
rs1566527832
|
|
|
NM_000257.4(MYH7):c.3508G>A (p.Glu1170Lys)
|
rs750627218
|
|
|
NM_000257.4(MYH7):c.3517A>G (p.Lys1173Glu)
|
|
|
|
NM_000257.4(MYH7):c.3524G>A (p.Arg1175Gln)
|
|
|
|
NM_000257.4(MYH7):c.3534G>A (p.Leu1178=)
|
|
|
|
NM_000257.4(MYH7):c.3536A>T (p.Glu1179Val)
|
|
|
|
NM_000257.4(MYH7):c.3539A>C (p.Glu1180Ala)
|
|
|
|
NM_000257.4(MYH7):c.3542C>A (p.Ala1181Asp)
|
|
|
|
NM_000257.4(MYH7):c.3549_3550insT (p.Gln1184fs)
|
|
|
|
NM_000257.4(MYH7):c.3551A>G (p.Gln1184Arg)
|
rs546586969
|
|
|
NM_000257.4(MYH7):c.3554A>G (p.His1185Arg)
|
|
|
|
NM_000257.4(MYH7):c.3554_3555insTGCTTCTTG (p.His1185_Glu1186insAlaSerCys)
|
|
|
|
NM_000257.4(MYH7):c.3555C>T (p.His1185=)
|
rs1387218063
|
|
|
NM_000257.4(MYH7):c.3556_3557insC (p.Glu1186fs)
|
|
|
|
NM_000257.4(MYH7):c.3560C>T (p.Ala1187Val)
|
|
|
|
NM_000257.4(MYH7):c.3560_3564del (p.Ala1187fs)
|
|
|
|
NM_000257.4(MYH7):c.3563C>T (p.Thr1188Ile)
|
rs1566527771
|
|
|
NM_000257.4(MYH7):c.3568G>A (p.Ala1190Thr)
|
|
|
|
NM_000257.4(MYH7):c.3569C>T (p.Ala1190Val)
|
|
|
|
NM_000257.4(MYH7):c.3570G>A (p.Ala1190=)
|
|
|
|
NM_000257.4(MYH7):c.3572_3573insAGTGG (p.Leu1192fs)
|
|
|
|
NM_000257.4(MYH7):c.3576del (p.Arg1193fs)
|
|
|
|
NM_000257.4(MYH7):c.3577C>T (p.Arg1193Cys)
|
rs886039090
|
|
|
NM_000257.4(MYH7):c.3591C>G (p.Ala1197=)
|
|
|
|
NM_000257.4(MYH7):c.3592G>A (p.Asp1198Asn)
|
rs730880778
|
|
|
NM_000257.4(MYH7):c.3593del (p.Asp1198fs)
|
|
|
|
NM_000257.4(MYH7):c.3601dup (p.Ala1201fs)
|
|
|
|
NM_000257.4(MYH7):c.3604G>A (p.Glu1202Lys)
|
rs748011341
|
|
|
NM_000257.4(MYH7):c.3609G>T (p.Leu1203=)
|
rs1555337108
|
|
|
NM_000257.4(MYH7):c.3612C>T (p.Gly1204=)
|
rs786204378
|
|
|
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys)
|
rs727505026
|
|
|
NM_000257.4(MYH7):c.3621C>A (p.Ile1207=)
|
rs529700838
|
|
|
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=)
|
rs529700838
|
|
|
NM_000257.4(MYH7):c.3628C>T (p.Leu1210=)
|
rs773954053
|
|
|
NM_000257.4(MYH7):c.3644A>G (p.Gln1215Arg)
|
|
|
|
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys)
|
rs794727410
|
|
|
NM_000257.4(MYH7):c.3691G>A (p.Val1231Ile)
|
|
|
|
NM_000257.4(MYH7):c.3695C>T (p.Thr1232Ile)
|
|
|
|
NM_000257.4(MYH7):c.3696C>T (p.Thr1232=)
|
rs1892398114
|
|
|
NM_000257.4(MYH7):c.3699C>T (p.Ser1233=)
|
rs1892397909
|
|
|
NM_000257.4(MYH7):c.3712A>T (p.Ile1238Phe)
|
rs2138653375
|
|
|
NM_000257.4(MYH7):c.3714C>A (p.Ile1238=)
|
|
|
|
NM_000257.4(MYH7):c.3721G>T (p.Ala1241Ser)
|
rs757538583
|
|
|
NM_000257.4(MYH7):c.3727-5C>A
|
rs1160062159
|
|
|
NM_000257.4(MYH7):c.3727-8C>T
|
rs1892384390
|
|
|
NM_000257.4(MYH7):c.3740del (p.Lys1247fs)
|
rs1384488225
|
|
|
NM_000257.4(MYH7):c.3745_3746del (p.Cys1249fs)
|
|
|
|
NM_000257.4(MYH7):c.3748C>G (p.Arg1250Gly)
|
rs727503249
|
|
|
NM_000257.4(MYH7):c.3752C>T (p.Thr1251Ile)
|
rs1892382659
|
|
|
NM_000257.4(MYH7):c.3754T>C (p.Leu1252=)
|
rs397516193
|
|
|
NM_000257.4(MYH7):c.3767T>C (p.Met1256Thr)
|
rs1892381836
|
|
|
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser)
|
rs574005462
|
|
|
NM_000257.4(MYH7):c.3783C>G (p.Ser1261Arg)
|
rs1566527289
|
|
|
NM_000257.4(MYH7):c.3788C>A (p.Ala1263Glu)
|
rs758889483
|
|
|
NM_000257.4(MYH7):c.3789G>A (p.Ala1263=)
|
rs137918672
|
|
|
NM_000257.4(MYH7):c.3789G>T (p.Ala1263=)
|
rs137918672
|
|
|
NM_000257.4(MYH7):c.3802C>T (p.Arg1268Cys)
|
rs1892379072
|
|
|
NM_000257.4(MYH7):c.3807T>C (p.Ser1269=)
|
rs1892378651
|
|
|
NM_000257.4(MYH7):c.3829C>A (p.Arg1277=)
|
rs727503248
|
|
|
NM_000257.4(MYH7):c.3829C>T (p.Arg1277Trp)
|
rs727503248
|
|
|
NM_000257.4(MYH7):c.3833C>A (p.Ala1278Asp)
|
rs1892376484
|
|
|
NM_000257.4(MYH7):c.3854-10G>A
|
rs755774024
|
|
|
NM_000257.4(MYH7):c.3854-1G>T
|
rs1892364786
|
|
|
NM_000257.4(MYH7):c.3861G>A (p.Leu1287=)
|
rs150292548
|
|
|
NM_000257.4(MYH7):c.3882G>A (p.Lys1294=)
|
rs1892363435
|
|
|
NM_000257.4(MYH7):c.3882G>T (p.Lys1294Asn)
|
rs1892363435
|
|
|
NM_000257.4(MYH7):c.3890T>A (p.Leu1297Gln)
|
rs1566527011
|
|
|
NM_000257.4(MYH7):c.3894C>T (p.Ile1298=)
|
rs754009767
|
|
|
NM_000257.4(MYH7):c.3895T>G (p.Ser1299Ala)
|
|
|
|
NM_000257.4(MYH7):c.3900G>A (p.Gln1300=)
|
rs2138651429
|
|
|
NM_000257.4(MYH7):c.3908G>A (p.Arg1303Gln)
|
rs727505325
|
|
|
NM_000257.4(MYH7):c.3910G>A (p.Gly1304Ser)
|
|
|
|
NM_000257.4(MYH7):c.3924C>T (p.Tyr1308=)
|
rs1471262207
|
|
|
NM_000257.4(MYH7):c.3934C>G (p.Leu1312Val)
|
rs886050419
|
|
|
NM_000257.4(MYH7):c.3939G>A (p.Glu1313=)
|
rs772128107
|
|
|
NM_000257.4(MYH7):c.3942C>A (p.Asp1314Glu)
|
rs921429381
|
|
|
NM_000257.4(MYH7):c.3942C>T (p.Asp1314=)
|
rs921429381
|
|
|
NM_000257.4(MYH7):c.3966G>A (p.Glu1322=)
|
rs1240762183
|
|
|
NM_000257.4(MYH7):c.396G>A (p.Pro132=)
|
rs138932714
|
|
|
NM_000257.4(MYH7):c.396G>T (p.Pro132=)
|
rs138932714
|
|
|
NM_000257.4(MYH7):c.3973-12_3973-11del
|
rs1892323960
|
|
|
NM_000257.4(MYH7):c.3973-12delinsCCC
|
|
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
|
NM_000257.4(MYH7):c.3981C>T (p.Asn1327=)
|
rs141764279
|
|
|
NM_000257.4(MYH7):c.399G>A (p.Val133=)
|
rs1893000150
|
|
|
NM_000257.4(MYH7):c.4002G>A (p.Gln1334=)
|
rs2138649129
|
|
|
NM_000257.4(MYH7):c.4002del (p.Gln1334fs)
|
|
|
|
NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp)
|
rs727504352
|
|
|
NM_000257.4(MYH7):c.404C>A (p.Thr135Asn)
|
rs1417172313
|
|
|
NM_000257.4(MYH7):c.4063G>A (p.Ala1355Thr)
|
rs755058300
|
|
|
NM_000257.4(MYH7):c.4064C>A (p.Ala1355Asp)
|
rs1892313725
|
|
|
NM_000257.4(MYH7):c.4079T>A (p.Val1360Asp)
|
rs730880789
|
|
|
NM_000257.4(MYH7):c.4090G>A (p.Ala1364Thr)
|
|
|
|
NM_000257.4(MYH7):c.4099G>A (p.Glu1367Lys)
|
rs1555336835
|
|
|
NM_000257.4(MYH7):c.4102G>T (p.Val1368Leu)
|
rs771892152
|
|
|
NM_000257.4(MYH7):c.4131G>A (p.Thr1377=)
|
rs369420587
|
|
|
NM_000257.4(MYH7):c.4131G>T (p.Thr1377=)
|
rs369420587
|
|
|
NM_000257.4(MYH7):c.4144C>A (p.Arg1382=)
|
rs730880910
|
|
|
NM_000257.4(MYH7):c.4149T>G (p.Thr1383=)
|
rs1595076104
|
|
|
NM_000257.4(MYH7):c.414G>C (p.Val138=)
|
|
|
|
NM_000257.4(MYH7):c.4169A>G (p.Lys1390Arg)
|
rs1892306997
|
|
|
NM_000257.4(MYH7):c.4170-14C>T
|
rs1892282584
|
|
|
NM_000257.4(MYH7):c.4170G>A (p.Lys1390=)
|
rs1892281118
|
|
|
NM_000257.4(MYH7):c.417G>A (p.Val139=)
|
rs2138684664
|
|
|
NM_000257.4(MYH7):c.4181C>T (p.Ala1394Val)
|
rs2138646993
|
|
|
NM_000257.4(MYH7):c.4187G>A (p.Arg1396Gln)
|
rs370069461
|
|
|
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=)
|
rs200852418
|
|
|
NM_000257.4(MYH7):c.418del (p.Ala140fs)
|
rs2138684658
|
|
|
NM_000257.4(MYH7):c.41C>A (p.Pro14His)
|
rs766301164
|
|
|
NM_000257.4(MYH7):c.4201G>A (p.Glu1401Lys)
|
rs2138646903
|
|
|
NM_000257.4(MYH7):c.4239G>C (p.Ser1413=)
|
rs3729821
|
|
|
NM_000257.4(MYH7):c.4245G>A (p.Glu1415=)
|
rs756862819
|
|
|
NM_000257.4(MYH7):c.4246A>G (p.Lys1416Glu)
|
rs753682085
|
|
|
NM_000257.4(MYH7):c.4250C>T (p.Thr1417Ile)
|
rs1057524383
|
|
|
NM_000257.4(MYH7):c.4251C>G (p.Thr1417=)
|
rs763934978
|
|
|
NM_000257.4(MYH7):c.4257C>T (p.His1419=)
|
rs1555336760
|
|
|
NM_000257.4(MYH7):c.4258C>A (p.Arg1420=)
|
|
|
|
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln)
|
rs397516207
|
|
|
NM_000257.4(MYH7):c.4259G>C (p.Arg1420Pro)
|
rs397516207
|
|
|
NM_000257.4(MYH7):c.4275C>A (p.Ile1425=)
|
rs57680382
|
|
|
NM_000257.4(MYH7):c.4275C>T (p.Ile1425=)
|
rs57680382
|
|
|
NM_000257.4(MYH7):c.4278G>A (p.Glu1426=)
|
rs763144369
|
|
|
NM_000257.4(MYH7):c.427del (p.Arg143fs)
|
rs1892999203
|
|
|
NM_000257.4(MYH7):c.429G>A (p.Arg143=)
|
rs1469298161
|
|
|
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys)
|
rs730880800
|
|
|
NM_000257.4(MYH7):c.4302C>T (p.Arg1434=)
|
rs900405502
|
|
|
NM_000257.4(MYH7):c.4308T>C (p.Asn1436=)
|
rs1892272545
|
|
|
NM_000257.4(MYH7):c.431G>A (p.Gly144Asp)
|
rs730880834
|
|
|
NM_000257.4(MYH7):c.4335G>A (p.Lys1445=)
|
rs1892271096
|
|
|
NM_000257.4(MYH7):c.4347C>G (p.Phe1449Leu)
|
rs182311329
|
|
|
NM_000257.4(MYH7):c.4350C>T (p.Asp1450=)
|
rs1892270412
|
|
|
NM_000257.4(MYH7):c.4354-10C>T
|
rs543141581
|
|
|
NM_000257.4(MYH7):c.4354-7C>T
|
rs370093487
|
|
|
NM_000257.4(MYH7):c.4359G>A (p.Leu1453=)
|
rs1892260171
|
|
|
NM_000257.4(MYH7):c.4360G>A (p.Ala1454Thr)
|
rs1358268382
|
|
|
NM_000257.4(MYH7):c.4384G>A (p.Glu1462Lys)
|
rs1892258263
|
|
|
NM_000257.4(MYH7):c.438G>A (p.Lys146=)
|
rs397516212
|
|
|
NM_000257.4(MYH7):c.4395G>A (p.Ser1465=)
|
rs397516213
|
|
|
NM_000257.4(MYH7):c.4395G>T (p.Ser1465=)
|
rs397516213
|
|
|
NM_000257.4(MYH7):c.4396G>T (p.Glu1466Ter)
|
|
|
|
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)
|
rs397516214
|
|
|
NM_000257.4(MYH7):c.4411C>T (p.Gln1471Ter)
|
rs397516216
|
|
|
NM_000257.4(MYH7):c.4419G>A (p.Glu1473=)
|
rs1892255907
|
|
|
NM_000257.4(MYH7):c.4434C>T (p.Ser1478=)
|
|
|
|
NM_000257.4(MYH7):c.4436C>T (p.Thr1479Ile)
|
rs397516217
|
|
|
NM_000257.4(MYH7):c.4449A>G (p.Lys1483=)
|
rs558413189
|
|
|
NM_000257.4(MYH7):c.4458C>A (p.Asn1486Lys)
|
rs571704020
|
|
|
NM_000257.4(MYH7):c.4463A>G (p.Tyr1488Cys)
|
rs948329167
|
|
|
NM_000257.4(MYH7):c.4479A>G (p.Glu1493=)
|
rs1892252462
|
|
|
NM_000257.4(MYH7):c.4488G>A (p.Glu1496=)
|
rs1892251841
|
|
|
NM_000257.4(MYH7):c.4498C>A (p.Arg1500=)
|
rs45544633
|
|
|
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)
|
rs45544633
|
|
|
NM_000257.4(MYH7):c.4511A>C (p.Asn1504Thr)
|
rs1892250074
|
|
|
NM_000257.4(MYH7):c.4515G>A (p.Leu1505=)
|
rs397516219
|
|
|
NM_000257.4(MYH7):c.4515G>T (p.Leu1505=)
|
rs397516219
|
|
|
NM_000257.4(MYH7):c.4521G>A (p.Glu1507=)
|
rs543139794
|
|
|
NM_000257.4(MYH7):c.4524G>C (p.Glu1508Asp)
|
rs1033543834
|
|
|
NM_000257.4(MYH7):c.4537A>T (p.Thr1513Ser)
|
rs397516222
|
|
|
NM_000257.4(MYH7):c.4541A>G (p.Glu1514Gly)
|
rs1351712658
|
|
|
NM_000257.4(MYH7):c.4542G>A (p.Glu1514=)
|
rs750753882
|
|
|
NM_000257.4(MYH7):c.4551T>C (p.Gly1517=)
|
rs1892238660
|
|
|
NM_000257.4(MYH7):c.4565C>T (p.Thr1522Ile)
|
rs2138644446
|
|
|
NM_000257.4(MYH7):c.4568T>C (p.Ile1523Thr)
|
rs1892237828
|
|
|
NM_000257.4(MYH7):c.4584_4585delinsAT (p.Val1529Phe)
|
rs1892237017
|
|
|
NM_000257.4(MYH7):c.4593G>A (p.Lys1531=)
|
rs747037455
|
|
|
NM_000257.4(MYH7):c.4617G>A (p.Glu1539=)
|
rs2138644273
|
|
|
NM_000257.4(MYH7):c.4628C>T (p.Ala1543Val)
|
rs1892235051
|
|
|
NM_000257.4(MYH7):c.4629C>T (p.Ala1543=)
|
rs1892234964
|
|
|
NM_000257.4(MYH7):c.4645-15C>T
|
rs756657320
|
|
|
NM_000257.4(MYH7):c.4660G>A (p.Glu1554Lys)
|
rs142694139
|
|
|
NM_000257.4(MYH7):c.4665G>A (p.Glu1555=)
|
rs1892207214
|
|
|
NM_000257.4(MYH7):c.4677C>A (p.Leu1559=)
|
rs775491087
|
|
|
NM_000257.4(MYH7):c.4678C>T (p.Arg1560Trp)
|
rs368722536
|
|
|
NM_000257.4(MYH7):c.4681G>T (p.Ala1561Ser)
|
|
|
|
NM_000257.4(MYH7):c.4682C>T (p.Ala1561Val)
|
rs1566524159
|
|
|
NM_000257.4(MYH7):c.4689G>C (p.Leu1563=)
|
rs770477774
|
|
|
NM_000257.4(MYH7):c.4701G>C (p.Gln1567His)
|
|
|
|
NM_000257.4(MYH7):c.4702A>G (p.Ile1568Val)
|
rs1892204171
|
|
|
NM_000257.4(MYH7):c.4708G>A (p.Ala1570Thr)
|
|
|
|
NM_000257.4(MYH7):c.4716C>A (p.Ile1572=)
|
|
|
|
NM_000257.4(MYH7):c.4740C>T (p.Asp1580=)
|
rs201469051
|
|
|
NM_000257.4(MYH7):c.4746G>C (p.Glu1582Asp)
|
rs1892202130
|
|
|
NM_000257.4(MYH7):c.4749G>T (p.Met1583Ile)
|
rs1892201771
|
|
|
NM_000257.4(MYH7):c.474C>G (p.Ser158=)
|
rs200444892
|
|
|
NM_000257.4(MYH7):c.4751A>G (p.Glu1584Gly)
|
rs765004831
|
|
|
NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)
|
rs1595073523
|
|
|
NM_000257.4(MYH7):c.4757C>G (p.Ala1586Gly)
|
rs1892201286
|
|
|
NM_000257.4(MYH7):c.4774C>T (p.Arg1592Trp)
|
rs1468958169
|
|
|
NM_000257.4(MYH7):c.4789C>T (p.Leu1597=)
|
rs1892199043
|
|
|
NM_000257.4(MYH7):c.4800C>T (p.Ser1600=)
|
rs1057521761
|
|
|
NM_000257.4(MYH7):c.4815A>G (p.Thr1605=)
|
rs202026847
|
|
|
NM_000257.4(MYH7):c.4818C>A (p.Arg1606=)
|
|
|
|
NM_000257.4(MYH7):c.4819A>G (p.Ser1607Gly)
|
rs1892196940
|
|
|
NM_000257.4(MYH7):c.4823G>T (p.Arg1608Leu)
|
rs587779391
|
|
|
NM_000257.4(MYH7):c.4879A>C (p.Ile1627Leu)
|
|
|
|
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)
|
rs545875689
|
|
|
NM_000257.4(MYH7):c.4907C>T (p.Ala1636Val)
|
rs1555336406
|
|
|
NM_000257.4(MYH7):c.490T>C (p.Tyr164His)
|
rs2138684414
|
|
|
NM_000257.4(MYH7):c.4912G>A (p.Glu1638Lys)
|
rs1238699518
|
|
|
NM_000257.4(MYH7):c.4915G>A (p.Ala1639Thr)
|
rs864309553
|
|
|
NM_000257.4(MYH7):c.4917C>T (p.Ala1639=)
|
rs1892189171
|
|
|
NM_000257.4(MYH7):c.4919A>C (p.Gln1640Pro)
|
rs756827282
|
|
|
NM_000257.4(MYH7):c.4932G>A (p.Lys1644=)
|
rs1892188954
|
|
|
NM_000257.4(MYH7):c.4935C>A (p.Ser1645Arg)
|
rs1595073192
|
|
|
NM_000257.4(MYH7):c.4953+4C>T
|
rs933520031
|
|
|
NM_000257.4(MYH7):c.4953G>A (p.Lys1651=)
|
rs1892187995
|
|
|
NM_000257.4(MYH7):c.4953G>T (p.Lys1651Asn)
|
rs1892187995
|
|
|
NM_000257.4(MYH7):c.4954-5C>G
|
|
|
|
NM_000257.4(MYH7):c.4954-5C>T
|
rs962469283
|
|
|
NM_000257.4(MYH7):c.4964T>C (p.Ile1655Thr)
|
rs1892177990
|
|
|
NM_000257.4(MYH7):c.4980A>C (p.Ala1660=)
|
rs112943492
|
|
|
NM_000257.4(MYH7):c.4980A>G (p.Ala1660=)
|
rs112943492
|
|
|
NM_000257.4(MYH7):c.4981G>A (p.Val1661Ile)
|
rs1358266100
|
|
|
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His)
|
rs370328209
|
|
|
NM_000257.4(MYH7):c.4985G>T (p.Arg1662Leu)
|
rs370328209
|
|
|
NM_000257.4(MYH7):c.4988C>A (p.Ala1663Asp)
|
rs1892175888
|
|
|
NM_000257.4(MYH7):c.4991A>G (p.Asn1664Ser)
|
rs1398693075
|
|
|
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys)
|
rs763538103
|
|
|
NM_000257.4(MYH7):c.5005G>T (p.Glu1669Ter)
|
rs45620235
|
|
|
NM_000257.4(MYH7):c.5013C>T (p.Ile1671=)
|
rs779978846
|
|
|
NM_000257.4(MYH7):c.5020G>T (p.Val1674Leu)
|
rs397516235
|
|
|
NM_000257.4(MYH7):c.503-9T>C
|
rs969619157
|
|
|
NM_000257.4(MYH7):c.5061G>A (p.Glu1687=)
|
rs1410160839
|
|
|
NM_000257.4(MYH7):c.5067T>G (p.Arg1689=)
|
rs1595072723
|
|
|
NM_000257.4(MYH7):c.5070C>T (p.Ala1690=)
|
rs764844610
|
|
|
NM_000257.4(MYH7):c.5074G>T (p.Val1692Leu)
|
rs748373063
|
|
|
NM_000257.4(MYH7):c.5075_5076delinsAA (p.Val1692Glu)
|
rs1892169334
|
|
|
NM_000257.4(MYH7):c.5079G>A (p.Glu1693=)
|
rs570732103
|
|
|
NM_000257.4(MYH7):c.5105C>G (p.Ala1702Gly)
|
rs750013359
|
|
|
NM_000257.4(MYH7):c.5105C>T (p.Ala1702Val)
|
rs750013359
|
|
|
NM_000257.4(MYH7):c.5106G>T (p.Ala1702=)
|
rs3729830
|
|
|
NM_000257.4(MYH7):c.5119A>T (p.Ile1707Phe)
|
rs763791649
|
|
|
NM_000257.4(MYH7):c.5130T>C (p.Ser1710=)
|
rs771954434
|
|
|
NM_000257.4(MYH7):c.5149C>T (p.His1717Tyr)
|
rs1892164451
|
|
|
NM_000257.4(MYH7):c.5158-10C>T
|
|
|
|
NM_000257.4(MYH7):c.5158-12C>A
|
rs1020453843
|
|
|
NM_000257.4(MYH7):c.5169C>G (p.Leu1723=)
|
rs1286161095
|
|
|
NM_000257.4(MYH7):c.5183A>G (p.Lys1728Arg)
|
rs1357222680
|
|
|
NM_000257.4(MYH7):c.5184G>A (p.Lys1728=)
|
rs1892155611
|
|
|
NM_000257.4(MYH7):c.5189T>C (p.Met1730Thr)
|
rs867004523
|
|
|
NM_000257.4(MYH7):c.519C>T (p.Ser173=)
|
rs1057521338
|
|
|
NM_000257.4(MYH7):c.5221del (p.Val1741fs)
|
rs1440353909
|
|
|
NM_000257.4(MYH7):c.525G>A (p.Leu175=)
|
|
|
|
NM_000257.4(MYH7):c.5265C>A (p.Ala1755=)
|
rs2138639281
|
|
|
NM_000257.4(MYH7):c.5270A>G (p.Lys1757Arg)
|
rs2138639265
|
|
|
NM_000257.4(MYH7):c.5283T>G (p.Asp1761Glu)
|
rs1892149011
|
|
|
NM_000257.4(MYH7):c.5291T>C (p.Met1764Thr)
|
rs1284464290
|
|
|
NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr)
|
rs267606909
|
|
|
NM_000257.4(MYH7):c.530+3G>A
|
rs2138683909
|
|
|
NM_000257.4(MYH7):c.531-7T>C
|
rs1892961206
|
|
|
NM_000257.4(MYH7):c.5310G>A (p.Lys1770=)
|
rs746667903
|
|
|
NM_000257.4(MYH7):c.5334C>T (p.His1778=)
|
rs1420442580
|
|
|
NM_000257.4(MYH7):c.5368A>G (p.Ile1790Val)
|
rs2138638553
|
|
|
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=)
|
rs777053791
|
|
|
NM_000257.4(MYH7):c.5400C>G (p.Ala1800=)
|
rs556490774
|
|
|
NM_000257.4(MYH7):c.5400C>T (p.Ala1800=)
|
rs556490774
|
|
|
NM_000257.4(MYH7):c.5407A>G (p.Ile1803Val)
|
rs1892134813
|
|
|
NM_000257.4(MYH7):c.540C>T (p.Ser180=)
|
rs369490861
|
|
|
NM_000257.4(MYH7):c.5414T>G (p.Leu1805Arg)
|
|
|
|
NM_000257.4(MYH7):c.5421C>A (p.Gly1807=)
|
rs142844109
|
|
|
NM_000257.4(MYH7):c.5421C>T (p.Gly1807=)
|
rs142844109
|
|
|
NM_000257.4(MYH7):c.5428A>C (p.Lys1810Gln)
|
rs2138638325
|
|
|
NM_000257.4(MYH7):c.5434C>G (p.Leu1812Val)
|
rs2138638313
|
|
|
NM_000257.4(MYH7):c.5451G>A (p.Ala1817=)
|
rs138682220
|
|
|
NM_000257.4(MYH7):c.5451G>C (p.Ala1817=)
|
rs138682220
|
|
|
NM_000257.4(MYH7):c.5458C>G (p.Arg1820Gly)
|
rs145734640
|
|
|
NM_000257.4(MYH7):c.5469_5471delinsATG (p.Asn1824Cys)
|
rs1060499881
|
|
|
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly)
|
rs1595071680
|
|
|
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)
|
rs201865159
|
|
|
NM_000257.4(MYH7):c.5500G>T (p.Ala1834Ser)
|
rs143362532
|
|
|
NM_000257.4(MYH7):c.5506T>G (p.Ser1836Ala)
|
rs1892127650
|
|
|
NM_000257.4(MYH7):c.5516G>A (p.Gly1839Asp)
|
rs1566522362
|
|
|
NM_000257.4(MYH7):c.5523G>A (p.Arg1841=)
|
rs1892126790
|
|
|
NM_000257.4(MYH7):c.5528G>C (p.Ser1843Thr)
|
|
|
|
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp)
|
rs28933098
|
|
|
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln)
|
rs730880822
|
|
|
NM_000257.4(MYH7):c.5536C>G (p.Arg1846Gly)
|
rs12590294
|
|
|
NM_000257.4(MYH7):c.554C>T (p.Thr185Ile)
|
rs2138682451
|
|
|
NM_000257.4(MYH7):c.5556C>G (p.Tyr1852Ter)
|
rs730880823
|
|
|
NM_000257.4(MYH7):c.5559+3G>A
|
rs1355535952
|
|
|
NM_000257.4(MYH7):c.5560-7C>A
|
rs778224065
|
|
|
NM_000257.4(MYH7):c.5560-7dup
|
rs762612534
|
|
|
NM_000257.4(MYH7):c.5592G>A (p.Leu1864=)
|
|
|
|
NM_000257.4(MYH7):c.5622G>A (p.Lys1874=)
|
rs2138635890
|
|
|
NM_000257.4(MYH7):c.5630C>T (p.Ala1877Val)
|
rs2138635866
|
|
|
NM_000257.4(MYH7):c.5638C>G (p.Arg1880Gly)
|
rs1057522617
|
|
|
NM_000257.4(MYH7):c.5641C>T (p.Gln1881Ter)
|
rs1892080773
|
|
|
NM_000257.4(MYH7):c.5656-15T>C
|
rs1566521500
|
|
|
NM_000257.4(MYH7):c.5676C>T (p.Asn1892=)
|
rs1595070496
|
|
|
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His)
|
rs727503240
|
|
|
NM_000257.4(MYH7):c.5706G>A (p.Glu1902=)
|
rs2138635325
|
|
|
NM_000257.4(MYH7):c.5709G>A (p.Leu1903=)
|
rs988052048
|
|
|
NM_000257.4(MYH7):c.5725C>T (p.Arg1909Trp)
|
rs146796870
|
|
|
NM_000257.4(MYH7):c.572T>A (p.Val191Asp)
|
rs876661135
|
|
|
NM_000257.4(MYH7):c.5739C>T (p.Ala1913=)
|
rs200921000
|
|
|
NM_000257.4(MYH7):c.5742G>A (p.Glu1914=)
|
rs2138635168
|
|
|
NM_000257.4(MYH7):c.5761C>T (p.Arg1921Trp)
|
rs539290591
|
|
|
NM_000257.4(MYH7):c.5790+4G>T
|
|
|
|
NM_000257.4(MYH7):c.5798A>G (p.Asn1933Ser)
|
rs2138633164
|
|
|
NM_000257.4(MYH7):c.5802G>A (p.Glu1934=)
|
rs1892028656
|
|
|
NM_000257.4(MYH7):c.582C>T (p.Tyr194=)
|
rs1892956881
|
|
|
NM_000257.4(MYH7):c.625C>T (p.Gln209Ter)
|
rs878853840
|
|
|
NM_000257.4(MYH7):c.630C>T (p.Ser210=)
|
rs1892954758
|
|
|
NM_000257.4(MYH7):c.639G>C (p.Lys213Asn)
|
rs1892953374
|
|
|
NM_000257.4(MYH7):c.640-7T>C
|
|
|
|
NM_000257.4(MYH7):c.651G>A (p.Glu217=)
|
rs746214526
|
|
|
NM_000257.4(MYH7):c.658A>C (p.Ile220Leu)
|
rs779190577
|
|
|
NM_000257.4(MYH7):c.658A>G (p.Ile220Val)
|
rs779190577
|
|
|
NM_000257.4(MYH7):c.660C>T (p.Ile220=)
|
rs1277105647
|
|
|
NM_000257.4(MYH7):c.675T>C (p.Pro225=)
|
rs1219883935
|
|
|
NM_000257.4(MYH7):c.684G>A (p.Glu228=)
|
rs1273139090
|
|
|
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)
|
rs397516264
|
|
|
NM_000257.4(MYH7):c.715_717del (p.Asp239del)
|
|
|
|
NM_000257.4(MYH7):c.733-10A>G
|
rs3729809
|
|
|
NM_000257.4(MYH7):c.745C>T (p.Arg249Ter)
|
rs730880852
|
|
|
NM_000257.4(MYH7):c.768A>G (p.Gly256=)
|
rs1057522662
|
|
|
NM_000257.4(MYH7):c.782C>T (p.Ala261Val)
|
rs1892932955
|
|
|
NM_000257.4(MYH7):c.786C>T (p.Asp262=)
|
rs1222713557
|
|
|
NM_000257.4(MYH7):c.787A>C (p.Ile263Leu)
|
rs2138681177
|
|
|
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)
|
rs397516269
|
|
|
NM_000257.4(MYH7):c.788_789del (p.Ile263fs)
|
|
|
|
NM_000257.4(MYH7):c.796+4A>G
|
rs1892931557
|
|
|
NM_000257.4(MYH7):c.797-4del
|
rs1892912754
|
|
|
NM_000257.4(MYH7):c.797-8G>C
|
|
|
|
NM_000257.4(MYH7):c.797-8G>T
|
rs763178268
|
|
|
NM_000257.4(MYH7):c.816_817del (p.Arg272fs)
|
rs1399993803
|
|
|
NM_000257.4(MYH7):c.819T>C (p.Val273=)
|
rs2138680193
|
|
|
NM_000257.4(MYH7):c.853A>C (p.Ile285Leu)
|
|
|
|
NM_000257.4(MYH7):c.88C>T (p.Pro30Ser)
|
rs1016438334
|
|
|
NM_000257.4(MYH7):c.896-15T>A
|
|
|
|
NM_000257.4(MYH7):c.896-4C>T
|
rs1892893593
|
|
|
NM_000257.4(MYH7):c.896-5C>G
|
rs756051608
|
|
|
NM_000257.4(MYH7):c.90T>G (p.Pro30=)
|
|
|
|
NM_000257.4(MYH7):c.936C>T (p.Phe312=)
|
rs771522982
|
|
|
NM_000257.4(MYH7):c.944A>G (p.Gln315Arg)
|
rs1892890666
|
|
|
NM_000257.4(MYH7):c.94G>A (p.Asp32Asn)
|
rs2138686791
|
|
|
NM_000257.4(MYH7):c.967A>G (p.Ile323Val)
|
rs730880860
|
|
|
NM_000257.4(MYH7):c.976G>A (p.Ala326Thr)
|
rs372731424
|
|
|
NM_000257.4(MYH7):c.985C>A (p.Leu329Ile)
|
rs1566536367
|
|
|
NM_000257.4(MYH7):c.999+1G>A
|
rs112040347
|
|
|
NM_000257.4(MYH7):c.999+3G>A
|
rs1892886613
|
|
|
NM_000258.3(MYL3):c.-15T>A
|
|
|
|
NM_000258.3(MYL3):c.124A>T (p.Ile42Phe)
|
rs1322033572
|
|
|
NM_000258.3(MYL3):c.127A>G (p.Lys43Glu)
|
rs2106914291
|
|
|
NM_000258.3(MYL3):c.129+1G>T
|
rs112545893
|
|
|
NM_000258.3(MYL3):c.130-4T>G
|
rs1354158647
|
|
|
NM_000258.3(MYL3):c.157+3G>A
|
rs1701986723
|
|
|
NM_000258.3(MYL3):c.158-3C>G
|
rs111668273
|
|
|
NM_000258.3(MYL3):c.158-8C>T
|
rs937857201
|
|
|
NM_000258.3(MYL3):c.165G>A (p.Lys55=)
|
rs397516277
|
|
|
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)
|
rs139794067
|
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
|
NM_000258.3(MYL3):c.184G>A (p.Asp62Asn)
|
rs730880954
|
|
|
NM_000258.3(MYL3):c.1A>G (p.Met1Val)
|
|
|
|
NM_000258.3(MYL3):c.206T>A (p.Met69Lys)
|
rs1575498236
|
|
|
NM_000258.3(MYL3):c.21G>A (p.Glu7=)
|
rs1559520953
|
|
|
NM_000258.3(MYL3):c.229G>A (p.Gly77Arg)
|
rs1559520411
|
|
|
NM_000258.3(MYL3):c.261C>T (p.Pro87=)
|
rs556711370
|
|
|
NM_000258.3(MYL3):c.307+3A>G
|
rs2106909563
|
|
|
NM_000258.3(MYL3):c.307+4G>T
|
|
|
|
NM_000258.3(MYL3):c.310C>A (p.Leu104Ile)
|
|
|
|
NM_000258.3(MYL3):c.31G>A (p.Asp11Asn)
|
|
|
|
NM_000258.3(MYL3):c.320A>G (p.Lys107Arg)
|
rs1701969420
|
|
|
NM_000258.3(MYL3):c.338C>T (p.Thr113Ile)
|
rs397516278
|
|
|
NM_000258.3(MYL3):c.344T>C (p.Leu115Pro)
|
|
|
|
NM_000258.3(MYL3):c.36T>C (p.Asp12=)
|
rs138567316
|
|
|
NM_000258.3(MYL3):c.36T>G (p.Asp12Glu)
|
rs138567316
|
|
|
NM_000258.3(MYL3):c.370A>T (p.Asn124Tyr)
|
rs1278498849
|
|
|
NM_000258.3(MYL3):c.397T>A (p.Phe133Ile)
|
rs1553639870
|
|
|
NM_000258.3(MYL3):c.40A>C (p.Lys14Gln)
|
rs1702011948
|
|
|
NM_000258.3(MYL3):c.411G>A (p.Leu137=)
|
rs2233265
|
|
|
NM_000258.3(MYL3):c.411G>T (p.Leu137=)
|
rs2233265
|
|
|
NM_000258.3(MYL3):c.413G>A (p.Arg138Gln)
|
rs1057524652
|
|
|
NM_000258.3(MYL3):c.421G>T (p.Asp141Tyr)
|
rs1483805765
|
|
|
NM_000258.3(MYL3):c.430G>A (p.Gly144Ser)
|
|
|
|
NM_000258.3(MYL3):c.457del (p.Leu153fs)
|
rs1064793448
|
|
|
NM_000258.3(MYL3):c.477G>T (p.Thr159=)
|
rs148365503
|
|
|
NM_000258.3(MYL3):c.482-9T>A
|
rs1559519895
|
|
|
NM_000258.3(MYL3):c.484G>A (p.Glu162Lys)
|
rs371642547
|
|
|
NM_000258.3(MYL3):c.488G>A (p.Arg163Lys)
|
rs752165383
|
|
|
NM_000258.3(MYL3):c.499G>A (p.Asp167Asn)
|
rs1701956074
|
|
|
NM_000258.3(MYL3):c.49C>T (p.Pro17Ser)
|
rs1702011848
|
|
|
NM_000258.3(MYL3):c.4G>T (p.Ala2Ser)
|
rs148310342
|
|
|
NM_000258.3(MYL3):c.514T>C (p.Leu172=)
|
rs1390485854
|
|
|
NM_000258.3(MYL3):c.520G>C (p.Ala174Pro)
|
rs397516279
|
|
|
NM_000258.3(MYL3):c.52A>G (p.Lys18Glu)
|
rs1702011793
|
|
|
NM_000258.3(MYL3):c.539A>G (p.Asn180Ser)
|
rs1575497410
|
|
|
NM_000258.3(MYL3):c.546C>T (p.Cys182=)
|
rs1701955108
|
|
|
NM_000258.3(MYL3):c.549C>T (p.Ile183=)
|
rs963631094
|
|
|
NM_000258.3(MYL3):c.551A>G (p.Asn184Ser)
|
|
|
|
NM_000258.3(MYL3):c.55G>T (p.Ala19Ser)
|
|
|
|
NM_000258.3(MYL3):c.560-15_560-14del
|
rs1319190482
|
|
|
NM_000258.3(MYL3):c.560-19_560-16del
|
|
|
|
NM_000258.3(MYL3):c.560-1G>A
|
rs1701953138
|
|
|
NM_000258.3(MYL3):c.567G>A (p.Val189=)
|
rs1701953062
|
|
|
NM_000258.3(MYL3):c.577A>G (p.Met193Val)
|
rs1701951996
|
|
|
NM_000258.3(MYL3):c.582C>T (p.Ser194=)
|
rs1701951849
|
|
|
NM_000258.3(MYL3):c.61C>G (p.Pro21Ala)
|
rs779557153
|
|
|
NM_000258.3(MYL3):c.65C>T (p.Ala22Val)
|
rs2106914529
|
|
|
NM_000258.3(MYL3):c.77C>G (p.Pro26Arg)
|
rs1702011145
|
|
|
NM_000258.3(MYL3):c.79C>G (p.Pro27Ala)
|
rs1248338056
|
|
|
NM_000258.3(MYL3):c.80C>G (p.Pro27Arg)
|
rs1210373907
|
|
|
NM_000258.3(MYL3):c.96T>A (p.Pro32=)
|
rs886058582
|
|
|
NM_000335.5(SCN5A):c.-13G>A
|
|
|
|
NM_000335.5(SCN5A):c.-9G>A
|
rs2062572222
|
|
|
NM_000335.5(SCN5A):c.-9G>T
|
rs2062572222
|
|
|
NM_000335.5(SCN5A):c.100C>G (p.Arg34Gly)
|
rs6791924
|
|
|
NM_000335.5(SCN5A):c.1029G>A (p.Lys343=)
|
rs2062022764
|
|
|
NM_000335.5(SCN5A):c.1037A>G (p.Glu346Gly)
|
rs780735882
|
|
|
NM_000335.5(SCN5A):c.1040A>G (p.Asn347Ser)
|
rs2062022437
|
|
|
NM_000335.5(SCN5A):c.1050C>G (p.His350Gln)
|
rs587781160
|
|
|
NM_000335.5(SCN5A):c.1056C>T (p.Tyr352=)
|
|
|
|
NM_000335.5(SCN5A):c.1087C>G (p.Leu363Val)
|
rs1325284398
|
|
|
NM_000335.5(SCN5A):c.1089T>G (p.Leu363=)
|
|
|
|
NM_000335.5(SCN5A):c.109A>G (p.Thr37Ala)
|
rs753953732
|
|
|
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met)
|
rs199473099
|
|
|
NM_000335.5(SCN5A):c.1110G>A (p.Thr370=)
|
rs202025024
|
|
|
NM_000335.5(SCN5A):c.1110G>T (p.Thr370=)
|
rs202025024
|
|
|
NM_000335.5(SCN5A):c.113C>T (p.Thr38Ile)
|
rs2062566716
|
|
|
NM_000335.5(SCN5A):c.1141-14C>T
|
|
|
|
NM_000335.5(SCN5A):c.1141-3C>T
|
|
|
|
NM_000335.5(SCN5A):c.1141-9C>G
|
rs2062010708
|
|
|
NM_000335.5(SCN5A):c.1163T>G (p.Ile388Ser)
|
rs745481817
|
|
|
NM_000335.5(SCN5A):c.1168A>G (p.Met390Val)
|
rs2062009652
|
|
|
NM_000335.5(SCN5A):c.1170G>C (p.Met390Ile)
|
rs2062009591
|
|
|
NM_000335.5(SCN5A):c.117G>T (p.Leu39Phe)
|
rs1426662817
|
|
|
NM_000335.5(SCN5A):c.1180A>T (p.Met394Leu)
|
rs2062009427
|
|
|
NM_000335.5(SCN5A):c.1182G>A (p.Met394Ile)
|
rs2062009371
|
|
|
NM_000335.5(SCN5A):c.1186G>C (p.Val396Leu)
|
rs199473104
|
|
|
NM_000335.5(SCN5A):c.1212G>T (p.Leu404=)
|
rs2062008464
|
|
|
NM_000335.5(SCN5A):c.1217A>T (p.Asn406Ile)
|
|
|
|
NM_000335.5(SCN5A):c.1221G>T (p.Leu407=)
|
rs2062008145
|
|
|
NM_000335.5(SCN5A):c.1236C>G (p.Val412=)
|
|
|
|
NM_000335.5(SCN5A):c.1240A>G (p.Met414Val)
|
rs1401162798
|
|
|
NM_000335.5(SCN5A):c.1247A>G (p.Tyr416Cys)
|
rs372395294
|
|
|
NM_000335.5(SCN5A):c.1266C>T (p.Ala422=)
|
rs2125904715
|
|
|
NM_000335.5(SCN5A):c.1272C>G (p.Ile424Met)
|
rs267599794
|
|
|
NM_000335.5(SCN5A):c.1272C>T (p.Ile424=)
|
rs267599794
|
|
|
NM_000335.5(SCN5A):c.1273G>A (p.Ala425Thr)
|
rs761117662
|
|
|
NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter)
|
rs1553607597
|
|
|
NM_000335.5(SCN5A):c.1285G>C (p.Glu429Gln)
|
rs1215708111
|
|
|
NM_000335.5(SCN5A):c.1287G>A (p.Glu429=)
|
|
|
|
NM_000335.5(SCN5A):c.1306G>A (p.Glu436Lys)
|
|
|
|
NM_000335.5(SCN5A):c.1312A>G (p.Met438Val)
|
rs369440094
|
|
|
NM_000335.5(SCN5A):c.1321C>T (p.Leu441Phe)
|
rs781283235
|
|
|
NM_000335.5(SCN5A):c.1323C>T (p.Leu441=)
|
rs2125904533
|
|
|
NM_000335.5(SCN5A):c.1329A>G (p.Lys443=)
|
rs2125904519
|
|
|
NM_000335.5(SCN5A):c.1336G>C (p.Glu446Gln)
|
rs199473339
|
|
|
NM_000335.5(SCN5A):c.1338+2T>A
|
rs786204839
|
|
|
NM_000335.5(SCN5A):c.1338G>C (p.Glu446Asp)
|
rs1553704677
|
|
|
NM_000335.5(SCN5A):c.1339-13C>T
|
rs753940734
|
|
|
NM_000335.5(SCN5A):c.1339-14C>T
|
rs1358160915
|
|
|
NM_000335.5(SCN5A):c.1347C>A (p.Thr449=)
|
rs45477694
|
|
|
NM_000335.5(SCN5A):c.1350C>T (p.Ile450=)
|
rs2061986457
|
|
|
NM_000335.5(SCN5A):c.1355G>A (p.Gly452Asp)
|
rs794728855
|
|
|
NM_000335.5(SCN5A):c.135G>A (p.Gly45=)
|
|
|
|
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys)
|
rs752130196
|
|
|
NM_000335.5(SCN5A):c.1385A>C (p.Glu462Ala)
|
rs199473114
|
|
|
NM_000335.5(SCN5A):c.1387A>T (p.Met463Leu)
|
rs2061984984
|
|
|
NM_000335.5(SCN5A):c.1388T>G (p.Met463Arg)
|
rs761628195
|
|
|
NM_000335.5(SCN5A):c.1393C>T (p.Pro465Ser)
|
rs2061984708
|
|
|
NM_000335.5(SCN5A):c.141C>A (p.Pro47=)
|
rs571894716
|
|
|
NM_000335.5(SCN5A):c.141C>T (p.Pro47=)
|
rs571894716
|
|
|
NM_000335.5(SCN5A):c.1424_1425delinsCC (p.Arg475Thr)
|
rs2061983645
|
|
|
NM_000335.5(SCN5A):c.1462G>T (p.Glu488Ter)
|
|
|
|
NM_000335.5(SCN5A):c.1474G>A (p.Asp492Asn)
|
|
|
|
NM_000335.5(SCN5A):c.1480C>T (p.Leu494Phe)
|
rs2061981979
|
|
|
NM_000335.5(SCN5A):c.1482_1486delinsTCTG (p.Pro495fs)
|
|
|
|
NM_000335.5(SCN5A):c.1489T>C (p.Ser497Pro)
|
rs2061981576
|
|
|
NM_000335.5(SCN5A):c.148G>A (p.Glu50Lys)
|
rs2062565358
|
|
|
NM_000335.5(SCN5A):c.1503T>C (p.Asp501=)
|
rs1460994712
|
|
|
NM_000335.5(SCN5A):c.1519-13C>T
|
rs1254695324
|
|
|
NM_000335.5(SCN5A):c.1519-15T>A
|
rs1386092614
|
|
|
NM_000335.5(SCN5A):c.1531C>T (p.Leu511Phe)
|
rs2061967701
|
|
|
NM_000335.5(SCN5A):c.1538G>C (p.Arg513Pro)
|
rs397517951
|
|
|
NM_000335.5(SCN5A):c.155C>A (p.Pro52His)
|
rs769229586
|
|
|
NM_000335.5(SCN5A):c.1563_1564delinsAA (p.Pro522Thr)
|
rs2061966279
|
|
|
NM_000335.5(SCN5A):c.1578C>T (p.Arg526=)
|
rs981474076
|
|
|
NM_000335.5(SCN5A):c.1597C>A (p.Arg533Ser)
|
rs775576991
|
|
|
NM_000335.5(SCN5A):c.159G>A (p.Arg53=)
|
|
|
|
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter)
|
rs1417036453
|
|
|
NM_000335.5(SCN5A):c.1608C>T (p.Asp536=)
|
rs2061964386
|
|
|
NM_000335.5(SCN5A):c.1628T>C (p.Phe543Ser)
|
rs2125901613
|
|
|
NM_000335.5(SCN5A):c.1636_1637delinsTT (p.Asp546Phe)
|
|
|
|
NM_000335.5(SCN5A):c.1652C>G (p.Ala551Gly)
|
rs201641342
|
|
|
NM_000335.5(SCN5A):c.1653G>A (p.Ala551=)
|
rs397517952
|
|
|
NM_000335.5(SCN5A):c.1653G>C (p.Ala551=)
|
rs397517952
|
|
|
NM_000335.5(SCN5A):c.1653G>T (p.Ala551=)
|
rs397517952
|
|
|
NM_000335.5(SCN5A):c.1654G>C (p.Gly552Arg)
|
rs3918389
|
|
|
NM_000335.5(SCN5A):c.1662C>G (p.Ser554Arg)
|
rs536201762
|
|
|
NM_000335.5(SCN5A):c.1670A>G (p.His557Arg)
|
rs1026788049
|
|
|
NM_000335.5(SCN5A):c.1672_1673inv (p.His558Cys)
|
|
|
|
NM_000335.5(SCN5A):c.1690C>T (p.Pro564Ser)
|
rs2061961925
|
|
|
NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly)
|
rs199473576
|
|
|
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)
|
rs730880211
|
|
|
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)
|
rs36210423
|
|
|
NM_000335.5(SCN5A):c.1723C>G (p.Gln575Glu)
|
rs1553704084
|
|
|
NM_000335.5(SCN5A):c.1726C>G (p.Pro576Ala)
|
rs2061960399
|
|
|
NM_000335.5(SCN5A):c.1729A>C (p.Ser577Arg)
|
rs2061960299
|
|
|
NM_000335.5(SCN5A):c.1733C>G (p.Pro578Arg)
|
rs1171364024
|
|
|
NM_000335.5(SCN5A):c.1752C>T (p.Gly584=)
|
rs1166588443
|
|
|
NM_000335.5(SCN5A):c.1756G>A (p.Ala586Thr)
|
rs199473129
|
|
|
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del)
|
rs397517953
|
|
|
NM_000335.5(SCN5A):c.1762C>A (p.His588Asn)
|
rs748732150
|
|
|
NM_000335.5(SCN5A):c.1768A>C (p.Lys590Gln)
|
rs1060501143
|
|
|
NM_000335.5(SCN5A):c.1776C>T (p.Asn592=)
|
rs199473130
|
|
|
NM_000335.5(SCN5A):c.1781C>T (p.Thr594Ile)
|
|
|
|
NM_000335.5(SCN5A):c.1792A>G (p.Asn598Asp)
|
|
|
|
NM_000335.5(SCN5A):c.1810C>G (p.Leu604Val)
|
|
|
|
NM_000335.5(SCN5A):c.1822G>A (p.Asp608Asn)
|
rs755114387
|
|
|
NM_000335.5(SCN5A):c.1828G>A (p.Glu610Lys)
|
rs751774111
|
|
|
NM_000335.5(SCN5A):c.1834A>G (p.Thr612Ala)
|
rs2061957185
|
|
|
NM_000335.5(SCN5A):c.1835C>T (p.Thr612Ile)
|
|
|
|
NM_000335.5(SCN5A):c.1859G>T (p.Arg620Leu)
|
rs746504626
|
|
|
NM_000335.5(SCN5A):c.1862C>G (p.Pro621Arg)
|
rs2125901000
|
|
|
NM_000335.5(SCN5A):c.1891-8G>C
|
rs12720064
|
|
|
NM_000335.5(SCN5A):c.1892C>T (p.Thr631Ile)
|
rs2061880786
|
|
|
NM_000335.5(SCN5A):c.1897C>T (p.Pro633Ser)
|
rs2125895584
|
|
|
NM_000335.5(SCN5A):c.189del (p.Lys63fs)
|
rs2062564269
|
|
|
NM_000335.5(SCN5A):c.1905G>A (p.Glu635=)
|
rs779179765
|
|
|
NM_000335.5(SCN5A):c.1919C>T (p.Pro640Leu)
|
rs1260738360
|
|
|
NM_000335.5(SCN5A):c.1940C>A (p.Ala647Asp)
|
rs185638763
|
|
|
NM_000335.5(SCN5A):c.1966C>G (p.Pro656Ala)
|
rs2125895380
|
|
|
NM_000335.5(SCN5A):c.1972G>T (p.Ala658Ser)
|
rs2061877726
|
|
|
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr)
|
rs756474485
|
|
|
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser)
|
rs756474485
|
|
|
NM_000335.5(SCN5A):c.1994C>T (p.Ala665Val)
|
|
|
|
NM_000335.5(SCN5A):c.19C>T (p.Pro7Ser)
|
rs933949794
|
|
|
NM_000335.5(SCN5A):c.2006T>C (p.Leu669Pro)
|
rs2061876759
|
|
|
NM_000335.5(SCN5A):c.2009C>A (p.Thr670Asn)
|
rs1060501137
|
|
|
NM_000335.5(SCN5A):c.2011A>T (p.Ser671Cys)
|
rs755504715
|
|
|
NM_000335.5(SCN5A):c.2014_2015delinsCT (p.Ala672Leu)
|
rs2061876330
|
|
|
NM_000335.5(SCN5A):c.2024-12C>T
|
|
|
|
NM_000335.5(SCN5A):c.204T>C (p.Tyr68=)
|
|
|
|
NM_000335.5(SCN5A):c.2078G>T (p.Arg693Leu)
|
rs373087176
|
|
|
NM_000335.5(SCN5A):c.207C>A (p.Gly69=)
|
|
|
|
NM_000335.5(SCN5A):c.2087T>A (p.Ile696Asn)
|
rs982826209
|
|
|
NM_000335.5(SCN5A):c.2103G>T (p.Pro701=)
|
|
|
|
NM_000335.5(SCN5A):c.2106G>A (p.Leu702=)
|
rs1439870341
|
|
|
NM_000335.5(SCN5A):c.212C>T (p.Pro71Leu)
|
rs1060501140
|
|
|
NM_000335.5(SCN5A):c.2132A>G (p.Lys711Arg)
|
|
|
|
NM_000335.5(SCN5A):c.2185C>T (p.Leu729Phe)
|
rs2061856218
|
|
|
NM_000335.5(SCN5A):c.2187C>T (p.Leu729=)
|
rs2061856117
|
|
|
NM_000335.5(SCN5A):c.2200A>T (p.Met734Leu)
|
|
|
|
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val)
|
rs137854611
|
|
|
NM_000335.5(SCN5A):c.2211G>A (p.Glu737=)
|
rs967241166
|
|
|
NM_000335.5(SCN5A):c.2214C>T (p.His738=)
|
|
|
|
NM_000335.5(SCN5A):c.2221A>C (p.Met741Leu)
|
|
|
|
NM_000335.5(SCN5A):c.222G>A (p.Glu74=)
|
rs184966825
|
|
|
NM_000335.5(SCN5A):c.2240A>C (p.Glu747Ala)
|
rs747324991
|
|
|
NM_000335.5(SCN5A):c.2244G>C (p.Met748Ile)
|
rs1424832911
|
|
|
NM_000335.5(SCN5A):c.225C>T (p.Leu75=)
|
rs752921080
|
|
|
NM_000335.5(SCN5A):c.2263-2A>G
|
rs1274495820
|
|
|
NM_000335.5(SCN5A):c.2263-5_2263-3del
|
rs2061688760
|
|
|
NM_000335.5(SCN5A):c.2275A>G (p.Ile759Val)
|
rs199473155
|
|
|
NM_000335.5(SCN5A):c.2291T>C (p.Met764Thr)
|
rs199473156
|
|
|
NM_000335.5(SCN5A):c.229G>A (p.Gly77Arg)
|
rs1228779956
|
|
|
NM_000335.5(SCN5A):c.2313C>G (p.Leu771=)
|
|
|
|
NM_000335.5(SCN5A):c.2330T>A (p.Phe777Tyr)
|
rs794728863
|
|
|
NM_000335.5(SCN5A):c.2334A>G (p.Gln778=)
|
rs1466554537
|
|
|
NM_000335.5(SCN5A):c.2352C>T (p.Phe784=)
|
rs1418584830
|
|
|
NM_000335.5(SCN5A):c.2361C>T (p.Ile787=)
|
rs780897743
|
|
|
NM_000335.5(SCN5A):c.2380A>G (p.Met794Val)
|
|
|
|
NM_000335.5(SCN5A):c.2382G>C (p.Met794Ile)
|
rs1403057447
|
|
|
NM_000335.5(SCN5A):c.2390G>A (p.Gly797Asp)
|
rs987266626
|
|
|
NM_000335.5(SCN5A):c.2390G>T (p.Gly797Val)
|
rs987266626
|
|
|
NM_000335.5(SCN5A):c.2399G>T (p.Arg800Leu)
|
rs566251672
|
|
|
NM_000335.5(SCN5A):c.2403G>A (p.Met801Ile)
|
rs1559758625
|
|
|
NM_000335.5(SCN5A):c.2415G>C (p.Ser805=)
|
rs754312452
|
|
|
NM_000335.5(SCN5A):c.2423G>A (p.Arg808His)
|
rs199473160
|
|
|
NM_000335.5(SCN5A):c.2440C>A (p.Arg814=)
|
rs199473161
|
|
|
NM_000335.5(SCN5A):c.2448C>A (p.Phe816Leu)
|
rs769243029
|
|
|
NM_000335.5(SCN5A):c.246C>A (p.Asp82Glu)
|
rs747643709
|
|
|
NM_000335.5(SCN5A):c.246C>G (p.Asp82Glu)
|
rs747643709
|
|
|
NM_000335.5(SCN5A):c.2471C>T (p.Thr824Ile)
|
rs1452787540
|
|
|
NM_000335.5(SCN5A):c.2505A>G (p.Ser835=)
|
rs1399833754
|
|
|
NM_000335.5(SCN5A):c.2520G>T (p.Gly840=)
|
rs565515932
|
|
|
NM_000335.5(SCN5A):c.2541C>A (p.Ala847=)
|
rs745747202
|
|
|
NM_000335.5(SCN5A):c.2550G>A (p.Val850=)
|
rs2061659256
|
|
|
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs)
|
rs397514450
|
|
|
NM_000335.5(SCN5A):c.2554A>G (p.Ile852Val)
|
rs2061658984
|
|
|
NM_000335.5(SCN5A):c.2630C>G (p.Pro877Arg)
|
rs1060501147
|
|
|
NM_000335.5(SCN5A):c.2645T>C (p.Met882Thr)
|
rs2061657235
|
|
|
NM_000335.5(SCN5A):c.2649C>T (p.Asp883=)
|
rs2061657101
|
|
|
NM_000335.5(SCN5A):c.2653_2664del (p.Phe885_Phe888del)
|
rs2061656962
|
|
|
NM_000335.5(SCN5A):c.2667C>G (p.Leu889=)
|
rs587781162
|
|
|
NM_000335.5(SCN5A):c.2714A>G (p.Asp905Gly)
|
rs2061655209
|
|
|
NM_000335.5(SCN5A):c.2721G>A (p.Met907Ile)
|
rs2061655063
|
|
|
NM_000335.5(SCN5A):c.2724G>A (p.Glu908=)
|
|
|
|
NM_000335.5(SCN5A):c.2735A>G (p.Gln912Arg)
|
rs876661392
|
|
|
NM_000335.5(SCN5A):c.273G>T (p.Lys91Asn)
|
rs2125935232
|
|
|
NM_000335.5(SCN5A):c.2742A>T (p.Leu914Phe)
|
rs2061654471
|
|
|
NM_000335.5(SCN5A):c.274A>G (p.Thr92Ala)
|
rs2062507927
|
|
|
NM_000335.5(SCN5A):c.2754CTT[1] (p.Phe919del)
|
rs2061653998
|
|
|
NM_000335.5(SCN5A):c.2760G>A (p.Leu920=)
|
rs2061653916
|
|
|
NM_000335.5(SCN5A):c.2771T>C (p.Val924Ala)
|
rs2061653672
|
|
|
NM_000335.5(SCN5A):c.2788-14C>T
|
rs2125872008
|
|
|
NM_000335.5(SCN5A):c.2788-15C>G
|
rs1057522116
|
|
|
NM_000335.5(SCN5A):c.2788-15C>T
|
rs1057522116
|
|
|
NM_000335.5(SCN5A):c.2819G>A (p.Ser940Asn)
|
rs879123756
|
|
|
NM_000335.5(SCN5A):c.2820C>T (p.Ser940=)
|
rs1418607202
|
|
|
NM_000335.5(SCN5A):c.282C>T (p.Ile94=)
|
rs2062507560
|
|
|
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile)
|
rs199473054
|
|
|
NM_000335.5(SCN5A):c.2846C>T (p.Ala949Val)
|
rs794728869
|
|
|
NM_000335.5(SCN5A):c.2849_2850del (p.Pro950fs)
|
rs2125871836
|
|
|
NM_000335.5(SCN5A):c.2854G>A (p.Glu952Lys)
|
rs774178124
|
|
|
NM_000335.5(SCN5A):c.2858A>G (p.Asp953Gly)
|
|
|
|
NM_000335.5(SCN5A):c.2873A>G (p.Asn958Ser)
|
rs2061579911
|
|
|
NM_000335.5(SCN5A):c.2893C>G (p.Arg965Gly)
|
|
|
|
NM_000335.5(SCN5A):c.2894G>A (p.Arg965His)
|
rs199473181
|
|
|
NM_000335.5(SCN5A):c.2896A>G (p.Ile966Val)
|
rs2061579030
|
|
|
NM_000335.5(SCN5A):c.2906G>T (p.Gly969Val)
|
rs2061578758
|
|
|
NM_000335.5(SCN5A):c.2925G>A (p.Arg975=)
|
rs878983121
|
|
|
NM_000335.5(SCN5A):c.2925G>C (p.Arg975=)
|
rs878983121
|
|
|
NM_000335.5(SCN5A):c.2954T>C (p.Leu985Pro)
|
|
|
|
NM_000335.5(SCN5A):c.2962C>A (p.Arg988=)
|
rs768691853
|
|
|
NM_000335.5(SCN5A):c.2965C>G (p.Pro989Ala)
|
rs2061576891
|
|
|
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)
|
rs137854609
|
|
|
NM_000335.5(SCN5A):c.2990C>A (p.Ala997Asp)
|
rs727503408
|
|
|
NM_000335.5(SCN5A):c.2999_3001del (p.Gln1000del)
|
rs748297358
|
|
|
NM_000335.5(SCN5A):c.3000G>A (p.Gln1000=)
|
rs879148633
|
|
|
NM_000335.5(SCN5A):c.3017C>A (p.Ala1006Asp)
|
rs2125871315
|
|
|
NM_000335.5(SCN5A):c.3033G>A (p.Pro1011=)
|
rs764425131
|
|
|
NM_000335.5(SCN5A):c.303C>T (p.Thr101=)
|
rs755973941
|
|
|
NM_000335.5(SCN5A):c.3040C>T (p.Pro1014Ser)
|
|
|
|
NM_000335.5(SCN5A):c.3045G>C (p.Glu1015Asp)
|
rs2125871200
|
|
|
NM_000335.5(SCN5A):c.306C>A (p.Ile102=)
|
rs750035074
|
|
|
NM_000335.5(SCN5A):c.3087G>A (p.Glu1029=)
|
rs2125871068
|
|
|
NM_000335.5(SCN5A):c.30C>T (p.Thr10=)
|
rs1314586147
|
|
|
NM_000335.5(SCN5A):c.3104G>A (p.Gly1035Asp)
|
|
|
|
NM_000335.5(SCN5A):c.3111C>T (p.Gly1037=)
|
rs1057521031
|
|
|
NM_000335.5(SCN5A):c.3117C>G (p.Pro1039=)
|
rs762151891
|
|
|
NM_000335.5(SCN5A):c.3117C>T (p.Pro1039=)
|
rs762151891
|
|
|
NM_000335.5(SCN5A):c.3135G>T (p.Val1045=)
|
rs1470214841
|
|
|
NM_000335.5(SCN5A):c.3145A>G (p.Ile1049Val)
|
rs2125870856
|
|
|
NM_000335.5(SCN5A):c.3154G>A (p.Ala1052Thr)
|
rs2061570437
|
|
|
NM_000335.5(SCN5A):c.3154G>T (p.Ala1052Ser)
|
rs2061570437
|
|
|
NM_000335.5(SCN5A):c.3157G>T (p.Glu1053Ter)
|
|
|
|
NM_000335.5(SCN5A):c.3159G>A (p.Glu1053=)
|
rs775605367
|
|
|
NM_000335.5(SCN5A):c.3173A>C (p.Asp1058Ala)
|
rs942008930
|
|
|
NM_000335.5(SCN5A):c.3186T>A (p.Asp1062Glu)
|
rs2061569408
|
|
|
NM_000335.5(SCN5A):c.3193_3216dup (p.Glu1072_Ser1073insAsnSerLeuGlyThrGluGluGlu)
|
|
|
|
NM_000335.5(SCN5A):c.3195C>T (p.Asn1065=)
|
rs765371666
|
|
|
NM_000335.5(SCN5A):c.3203G>A (p.Gly1068Asp)
|
|
|
|
NM_000335.5(SCN5A):c.3208GAG[2] (p.Glu1072del)
|
rs758282196
|
|
|
NM_000335.5(SCN5A):c.3214_3215inv (p.Glu1072Ser)
|
|
|
|
NM_000335.5(SCN5A):c.321C>T (p.Ala107=)
|
rs1473762259
|
|
|
NM_000335.5(SCN5A):c.3225G>T (p.Lys1075Asn)
|
rs1553699582
|
|
|
NM_000335.5(SCN5A):c.3228+3G>A
|
rs2125870553
|
|
|
NM_000335.5(SCN5A):c.3229-18C>T
|
rs535600394
|
|
|
NM_000335.5(SCN5A):c.3229-6C>T
|
rs1298844321
|
|
|
NM_000335.5(SCN5A):c.3235C>A (p.Gln1079Lys)
|
rs2061541848
|
|
|
NM_000335.5(SCN5A):c.3238C>T (p.Pro1080Ser)
|
rs1575757425
|
|
|
NM_000335.5(SCN5A):c.3246C>A (p.Ser1082=)
|
|
|
|
NM_000335.5(SCN5A):c.3246C>G (p.Ser1082=)
|
rs111422496
|
|
|
NM_000335.5(SCN5A):c.3260C>T (p.Ala1087Val)
|
rs778016632
|
|
|
NM_000335.5(SCN5A):c.3267G>C (p.Pro1089=)
|
rs752999955
|
|
|
NM_000335.5(SCN5A):c.3268G>T (p.Asp1090Tyr)
|
rs1217355486
|
|
|
NM_000335.5(SCN5A):c.327C>T (p.Asn109=)
|
rs199473056
|
|
|
NM_000335.5(SCN5A):c.3288G>C (p.Gln1096His)
|
|
|
|
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe)
|
rs7626962
|
|
|
NM_000335.5(SCN5A):c.3315C>T (p.Ala1105=)
|
rs377603706
|
|
|
NM_000335.5(SCN5A):c.331T>C (p.Leu111=)
|
|
|
|
NM_000335.5(SCN5A):c.3327A>C (p.Ala1109=)
|
rs878916838
|
|
|
NM_000335.5(SCN5A):c.3347_3348delinsCC (p.Gln1116Pro)
|
rs2125867623
|
|
|
NM_000335.5(SCN5A):c.3358G>A (p.Ala1120Thr)
|
rs2061537897
|
|
|
NM_000335.5(SCN5A):c.335A>G (p.Tyr112Cys)
|
rs755101048
|
|
|
NM_000335.5(SCN5A):c.3379T>A (p.Cys1127Ser)
|
rs1179884443
|
|
|
NM_000335.5(SCN5A):c.3387G>A (p.Glu1129=)
|
rs2061536796
|
|
|
NM_000335.5(SCN5A):c.3388-12C>G
|
rs2061494788
|
|
|
NM_000335.5(SCN5A):c.3389C>G (p.Thr1130Ser)
|
rs199473197
|
|
|
NM_000335.5(SCN5A):c.3392C>A (p.Pro1131Gln)
|
rs2061494238
|
|
|
NM_000335.5(SCN5A):c.3409G>A (p.Glu1137Lys)
|
rs760339455
|
|
|
NM_000335.5(SCN5A):c.3431C>T (p.Thr1144Ile)
|
rs2061493427
|
|
|
NM_000335.5(SCN5A):c.344G>A (p.Ser115Asn)
|
rs1203397027
|
|
|
NM_000335.5(SCN5A):c.3458T>C (p.Ile1153Thr)
|
|
|
|
NM_000335.5(SCN5A):c.3464A>C (p.Asp1155Ala)
|
|
|
|
NM_000335.5(SCN5A):c.3468C>T (p.Leu1156=)
|
rs570719978
|
|
|
NM_000335.5(SCN5A):c.3470G>T (p.Gly1157Val)
|
rs2061492444
|
|
|
NM_000335.5(SCN5A):c.3484G>T (p.Asp1162Tyr)
|
rs1026562595
|
|
|
NM_000335.5(SCN5A):c.3487C>A (p.Pro1163Thr)
|
|
|
|
NM_000335.5(SCN5A):c.3508+1G>T
|
|
|
|
NM_000335.5(SCN5A):c.3509-13C>T
|
|
|
|
NM_000335.5(SCN5A):c.3514G>A (p.Val1172Ile)
|
rs2061472813
|
|
|
NM_000335.5(SCN5A):c.3523T>C (p.Cys1175Arg)
|
rs1390530399
|
|
|
NM_000335.5(SCN5A):c.352C>T (p.His118Tyr)
|
rs2062505020
|
|
|
NM_000335.5(SCN5A):c.3530G>C (p.Cys1177Ser)
|
rs1169229420
|
|
|
NM_000335.5(SCN5A):c.3538G>A (p.Val1180Met)
|
|
|
|
NM_000335.5(SCN5A):c.353A>C (p.His118Pro)
|
|
|
|
NM_000335.5(SCN5A):c.3540G>A (p.Val1180=)
|
rs1575749126
|
|
|
NM_000335.5(SCN5A):c.3545C>T (p.Thr1182Ile)
|
rs1437242831
|
|
|
NM_000335.5(SCN5A):c.3564G>A (p.Lys1188=)
|
rs1375890695
|
|
|
NM_000335.5(SCN5A):c.3564G>C (p.Lys1188Asn)
|
rs1375890695
|
|
|
NM_000335.5(SCN5A):c.3577T>A (p.Leu1193Met)
|
rs1575748933
|
|
|
NM_000335.5(SCN5A):c.3580C>T (p.Arg1194Cys)
|
rs864622440
|
|
|
NM_000335.5(SCN5A):c.3593A>C (p.Tyr1198Ser)
|
rs199473202
|
|
|
NM_000335.5(SCN5A):c.3595dup (p.His1199fs)
|
rs1559745565
|
|
|
NM_000335.5(SCN5A):c.3605A>C (p.Glu1202Ala)
|
rs2125861702
|
|
|
NM_000335.5(SCN5A):c.3627C>T (p.Phe1209=)
|
rs962909965
|
|
|
NM_000335.5(SCN5A):c.3630C>T (p.Ile1210=)
|
rs1267986781
|
|
|
NM_000335.5(SCN5A):c.3638T>C (p.Met1213Thr)
|
rs1060501128
|
|
|
NM_000335.5(SCN5A):c.3661C>T (p.Leu1221=)
|
rs1379386304
|
|
|
NM_000335.5(SCN5A):c.3662T>C (p.Leu1221Pro)
|
|
|
|
NM_000335.5(SCN5A):c.3663+4C>T
|
rs539737269
|
|
|
NM_000335.5(SCN5A):c.3664-12C>A
|
rs2125849964
|
|
|
NM_000335.5(SCN5A):c.3664-12C>G
|
|
|
|
NM_000335.5(SCN5A):c.3670G>A (p.Glu1224Lys)
|
rs199473204
|
|
|
NM_000335.5(SCN5A):c.3680A>C (p.Tyr1227Ser)
|
rs746509665
|
|
|
NM_000335.5(SCN5A):c.3688G>C (p.Glu1230Gln)
|
rs199473598
|
|
|
NM_000335.5(SCN5A):c.3689A>C (p.Glu1230Ala)
|
rs2061341534
|
|
|
NM_000335.5(SCN5A):c.3691C>T (p.Arg1231Trp)
|
rs199473207
|
|
|
NM_000335.5(SCN5A):c.369G>T (p.Ala123=)
|
rs727504886
|
|
|
NM_000335.5(SCN5A):c.36C>T (p.Ser12=)
|
|
|
|
NM_000335.5(SCN5A):c.3704A>G (p.Lys1235Arg)
|
rs199473209
|
|
|
NM_000335.5(SCN5A):c.3719A>C (p.Tyr1240Ser)
|
rs199473212
|
|
|
NM_000335.5(SCN5A):c.372T>G (p.Ala124=)
|
rs1315654077
|
|
|
NM_000335.5(SCN5A):c.3732G>T (p.Met1244Ile)
|
rs753677814
|
|
|
NM_000335.5(SCN5A):c.373G>A (p.Val125Met)
|
rs199473059
|
|
|
NM_000335.5(SCN5A):c.373G>C (p.Val125Leu)
|
rs199473059
|
|
|
NM_000335.5(SCN5A):c.3751C>T (p.Leu1251=)
|
rs1575735547
|
|
|
NM_000335.5(SCN5A):c.3765C>A (p.Leu1255=)
|
|
|
|
NM_000335.5(SCN5A):c.3803A>G (p.Asn1268Ser)
|
rs761274563
|
|
|
NM_000335.5(SCN5A):c.3837+3G>A
|
|
|
|
NM_000335.5(SCN5A):c.3838G>C (p.Val1280Leu)
|
rs199473602
|
|
|
NM_000335.5(SCN5A):c.3844C>A (p.Leu1282Met)
|
rs199473216
|
|
|
NM_000335.5(SCN5A):c.3853C>T (p.Leu1285=)
|
rs2061271324
|
|
|
NM_000335.5(SCN5A):c.3855G>A (p.Leu1285=)
|
rs2061271276
|
|
|
NM_000335.5(SCN5A):c.3857T>C (p.Val1286Ala)
|
rs1575728863
|
|
|
NM_000335.5(SCN5A):c.3864C>T (p.Asn1288=)
|
rs2125844128
|
|
|
NM_000335.5(SCN5A):c.3873C>G (p.Gly1291=)
|
rs2061270879
|
|
|
NM_000335.5(SCN5A):c.3880G>A (p.Glu1294Lys)
|
rs199473218
|
|
|
NM_000335.5(SCN5A):c.3888C>T (p.Gly1296=)
|
rs368421199
|
|
|
NM_000335.5(SCN5A):c.3894C>G (p.Ile1298Met)
|
rs2061270172
|
|
|
NM_000335.5(SCN5A):c.3894C>T (p.Ile1298=)
|
rs2061270172
|
|
|
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=)
|
rs200334972
|
|
|
NM_000335.5(SCN5A):c.3906G>T (p.Arg1302=)
|
rs1361194123
|
|
|
NM_000335.5(SCN5A):c.390C>T (p.His130=)
|
rs2062503348
|
|
|
NM_000335.5(SCN5A):c.3913C>T (p.Arg1305Cys)
|
rs1403211358
|
|
|
NM_000335.5(SCN5A):c.3922C>T (p.Arg1308Cys)
|
rs886039459
|
|
|
NM_000335.5(SCN5A):c.3923G>A (p.Arg1308His)
|
rs537423012
|
|
|
NM_000335.5(SCN5A):c.393-12G>A
|
rs2125922941
|
|
|
NM_000335.5(SCN5A):c.393-5C>T
|
rs368678204
|
|
|
NM_000335.5(SCN5A):c.3954_3960+1dup
|
rs2061267874
|
|
|
NM_000335.5(SCN5A):c.3961-12T>C
|
|
|
|
NM_000335.5(SCN5A):c.3961-5T>C
|
|
|
|
NM_000335.5(SCN5A):c.3967G>A (p.Val1323Ile)
|
rs1553695437
|
|
|
NM_000335.5(SCN5A):c.3972T>G (p.Asn1324Lys)
|
rs2125841133
|
|
|
NM_000335.5(SCN5A):c.3990C>T (p.Ile1330=)
|
|
|
|
NM_000335.5(SCN5A):c.399C>T (p.Phe133=)
|
rs377607135
|
|
|
NM_000335.5(SCN5A):c.4001T>G (p.Met1334Arg)
|
rs1343676000
|
|
|
NM_000335.5(SCN5A):c.4006G>A (p.Val1336Ile)
|
rs2061234219
|
|
|
NM_000335.5(SCN5A):c.4014C>T (p.Leu1338=)
|
rs200653695
|
|
|
NM_000335.5(SCN5A):c.402C>T (p.Asn134=)
|
rs762839397
|
|
|
NM_000335.5(SCN5A):c.403A>C (p.Met135Leu)
|
rs772956530
|
|
|
NM_000335.5(SCN5A):c.4053C>T (p.Gly1351=)
|
rs587781165
|
|
|
NM_000335.5(SCN5A):c.4065T>C (p.Phe1355=)
|
rs2061232576
|
|
|
NM_000335.5(SCN5A):c.4071G>A (p.Gly1357=)
|
rs780532060
|
|
|
NM_000335.5(SCN5A):c.4082G>A (p.Arg1361Lys)
|
rs2061231963
|
|
|
NM_000335.5(SCN5A):c.4087A>C (p.Ile1363Leu)
|
rs369411869
|
|
|
NM_000335.5(SCN5A):c.40C>T (p.Arg14Cys)
|
|
|
|
NM_000335.5(SCN5A):c.4106A>G (p.Asp1369Gly)
|
rs775485359
|
|
|
NM_000335.5(SCN5A):c.4110G>A (p.Leu1370=)
|
rs1396611623
|
|
|
NM_000335.5(SCN5A):c.4155C>T (p.Ser1385=)
|
rs1289365004
|
|
|
NM_000335.5(SCN5A):c.4169G>C (p.Gly1390Ala)
|
rs2125840618
|
|
|
NM_000335.5(SCN5A):c.4172A>G (p.Glu1391Gly)
|
rs2061229662
|
|
|
NM_000335.5(SCN5A):c.4174T>C (p.Leu1392=)
|
rs758836354
|
|
|
NM_000335.5(SCN5A):c.4180T>C (p.Trp1394Arg)
|
rs2061229270
|
|
|
NM_000335.5(SCN5A):c.4210G>A (p.Val1404Met)
|
rs199473239
|
|
|
NM_000335.5(SCN5A):c.4213G>C (p.Gly1405Arg)
|
rs199473240
|
|
|
NM_000335.5(SCN5A):c.4213G>T (p.Gly1405Trp)
|
rs199473240
|
|
|
NM_000335.5(SCN5A):c.4214G>A (p.Gly1405Glu)
|
rs199473609
|
|
|
NM_000335.5(SCN5A):c.4234C>T (p.Leu1412=)
|
rs1484663881
|
|
|
NM_000335.5(SCN5A):c.4289C>G (p.Ser1430Cys)
|
rs1226701514
|
|
|
NM_000335.5(SCN5A):c.4293G>C (p.Arg1431Ser)
|
rs199473246
|
|
|
NM_000335.5(SCN5A):c.4296+6T>C
|
rs794728934
|
|
|
NM_000335.5(SCN5A):c.4297-11C>G
|
rs2061165020
|
|
|
NM_000335.5(SCN5A):c.4297-9C>G
|
rs1410235393
|
|
|
NM_000335.5(SCN5A):c.4297-9C>T
|
rs1410235393
|
|
|
NM_000335.5(SCN5A):c.4313A>G (p.Gln1438Arg)
|
rs1350022850
|
|
|
NM_000335.5(SCN5A):c.4325del (p.Asn1442fs)
|
|
|
|
NM_000335.5(SCN5A):c.4338C>T (p.Tyr1446=)
|
rs1269281143
|
|
|
NM_000335.5(SCN5A):c.4348G>C (p.Val1450Leu)
|
rs876657996
|
|
|
NM_000335.5(SCN5A):c.4352T>C (p.Ile1451Thr)
|
|
|
|
NM_000335.5(SCN5A):c.4368G>A (p.Gly1456=)
|
rs2061162756
|
|
|
NM_000335.5(SCN5A):c.4380C>T (p.Thr1460=)
|
|
|
|
NM_000335.5(SCN5A):c.4384A>T (p.Asn1462Tyr)
|
rs199473614
|
|
|
NM_000335.5(SCN5A):c.4406T>C (p.Ile1469Thr)
|
rs794728884
|
|
|
NM_000335.5(SCN5A):c.4410C>T (p.Asp1470=)
|
|
|
|
NM_000335.5(SCN5A):c.4419C>T (p.Asn1473=)
|
rs923406803
|
|
|
NM_000335.5(SCN5A):c.441C>T (p.Phe147=)
|
|
|
|
NM_000335.5(SCN5A):c.4434+4C>T
|
rs368541703
|
|
|
NM_000335.5(SCN5A):c.4463A>G (p.Glu1488Gly)
|
|
|
|
NM_000335.5(SCN5A):c.4497G>A (p.Lys1499=)
|
rs199473265
|
|
|
NM_000335.5(SCN5A):c.4513C>G (p.Pro1505Ala)
|
rs2061147191
|
|
|
NM_000335.5(SCN5A):c.451C>G (p.His151Asp)
|
rs2062340321
|
|
|
NM_000335.5(SCN5A):c.4525A>C (p.Ile1509Leu)
|
rs2125834104
|
|
|
NM_000335.5(SCN5A):c.4532G>C (p.Arg1511Pro)
|
|
|
|
NM_000335.5(SCN5A):c.4532G>T (p.Arg1511Leu)
|
rs368219299
|
|
|
NM_000335.5(SCN5A):c.4534C>T (p.Pro1512Ser)
|
|
|
|
NM_000335.5(SCN5A):c.4539+6C>G
|
rs2061146387
|
|
|
NM_000335.5(SCN5A):c.4540-10C>A
|
rs750747122
|
|
|
NM_000335.5(SCN5A):c.4540-10C>T
|
|
|
|
NM_000335.5(SCN5A):c.4545G>A (p.Lys1515=)
|
rs2061100667
|
|
|
NM_000335.5(SCN5A):c.456C>A (p.Asp152Glu)
|
rs190803993
|
|
|
NM_000335.5(SCN5A):c.4583C>A (p.Ala1528Asp)
|
rs760226765
|
|
|
NM_000335.5(SCN5A):c.4591G>T (p.Val1531Phe)
|
rs199473618
|
|
|
NM_000335.5(SCN5A):c.4628C>T (p.Thr1543Ile)
|
rs2061098471
|
|
|
NM_000335.5(SCN5A):c.4638G>T (p.Val1546=)
|
rs878855291
|
|
|
NM_000335.5(SCN5A):c.4641G>A (p.Glu1547=)
|
rs2061098145
|
|
|
NM_000335.5(SCN5A):c.4677G>A (p.Leu1559=)
|
rs199473619
|
|
|
NM_000335.5(SCN5A):c.4692G>T (p.Leu1564=)
|
rs200284038
|
|
|
NM_000335.5(SCN5A):c.4706T>C (p.Ile1569Thr)
|
|
|
|
NM_000335.5(SCN5A):c.4720T>A (p.Cys1574Ser)
|
rs1343260267
|
|
|
NM_000335.5(SCN5A):c.4721G>A (p.Cys1574Tyr)
|
rs1553693632
|
|
|
NM_000335.5(SCN5A):c.4741C>T (p.Leu1581=)
|
rs1234577681
|
|
|
NM_000335.5(SCN5A):c.4787T>C (p.Val1596Ala)
|
|
|
|
NM_000335.5(SCN5A):c.4796T>C (p.Ile1599Thr)
|
rs2125830469
|
|
|
NM_000335.5(SCN5A):c.4799T>A (p.Leu1600His)
|
|
|
|
NM_000335.5(SCN5A):c.4810+4G>A
|
rs1011460663
|
|
|
NM_000335.5(SCN5A):c.4815T>C (p.Thr1605=)
|
|
|
|
NM_000335.5(SCN5A):c.4821C>G (p.Leu1607=)
|
rs45437099
|
|
|
NM_000335.5(SCN5A):c.4824G>T (p.Ser1608=)
|
rs886058460
|
|
|
NM_000335.5(SCN5A):c.483-10T>C
|
rs2125921164
|
|
|
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)
|
rs749697698
|
|
|
NM_000335.5(SCN5A):c.485A>G (p.Tyr162Cys)
|
|
|
|
NM_000335.5(SCN5A):c.4860C>A (p.Leu1620=)
|
|
|
|
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)
|
rs137854613
|
|
|
NM_000335.5(SCN5A):c.4880C>A (p.Ala1627Asp)
|
rs2061039404
|
|
|
NM_000335.5(SCN5A):c.4894A>G (p.Ile1632Val)
|
rs2061038708
|
|
|
NM_000335.5(SCN5A):c.4896C>A (p.Ile1632=)
|
rs749064540
|
|
|
NM_000335.5(SCN5A):c.4917C>T (p.Ala1639=)
|
rs1410835641
|
|
|
NM_000335.5(SCN5A):c.4973A>G (p.Asn1658Ser)
|
rs2061036856
|
|
|
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg)
|
rs199473292
|
|
|
NM_000335.5(SCN5A):c.4995C>T (p.Leu1665=)
|
rs373091159
|
|
|
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile)
|
rs199473293
|
|
|
NM_000335.5(SCN5A):c.5000T>C (p.Met1667Thr)
|
rs757812276
|
|
|
NM_000335.5(SCN5A):c.506C>A (p.Thr169Asn)
|
rs2062305946
|
|
|
NM_000335.5(SCN5A):c.5086T>C (p.Phe1696Leu)
|
rs2125826544
|
|
|
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met)
|
rs199473297
|
|
|
NM_000335.5(SCN5A):c.5137G>A (p.Asp1713Asn)
|
rs794728893
|
|
|
NM_000335.5(SCN5A):c.5141G>C (p.Gly1714Ala)
|
rs794728894
|
|
|
NM_000335.5(SCN5A):c.5143C>T (p.Leu1715Phe)
|
rs752995885
|
|
|
NM_000335.5(SCN5A):c.522C>T (p.Val174=)
|
|
|
|
NM_000335.5(SCN5A):c.5233G>C (p.Ala1745Pro)
|
rs199473306
|
|
|
NM_000335.5(SCN5A):c.5236G>T (p.Val1746Leu)
|
rs199473630
|
|
|
NM_000335.5(SCN5A):c.5237T>G (p.Val1746Gly)
|
rs2061029171
|
|
|
NM_000335.5(SCN5A):c.5259C>T (p.Thr1753=)
|
rs2125826125
|
|
|
NM_000335.5(SCN5A):c.5269A>G (p.Ile1757Val)
|
rs1325549884
|
|
|
NM_000335.5(SCN5A):c.5307C>T (p.Ile1769=)
|
rs2061027398
|
|
|
NM_000335.5(SCN5A):c.5309T>C (p.Ile1770Thr)
|
|
|
|
NM_000335.5(SCN5A):c.5313G>A (p.Leu1771=)
|
rs2061027209
|
|
|
NM_000335.5(SCN5A):c.5318del (p.Asn1773fs)
|
rs2061027042
|
|
|
NM_000335.5(SCN5A):c.5328G>A (p.Val1776=)
|
rs1559721151
|
|
|
NM_000335.5(SCN5A):c.5336A>G (p.Glu1779Gly)
|
rs1352601386
|
|
|
NM_000335.5(SCN5A):c.5347G>C (p.Glu1783Gln)
|
rs137854601
|
|
|
NM_000335.5(SCN5A):c.5349G>T (p.Glu1783Asp)
|
rs2061025611
|
|
|
NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs)
|
rs886037903
|
|
|
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter)
|
rs1480085793
|
|
|
NM_000335.5(SCN5A):c.5399T>C (p.Phe1800Ser)
|
rs1294703338
|
|
|
NM_000335.5(SCN5A):c.5403C>G (p.Asp1801Glu)
|
rs1367727373
|
|
|
NM_000335.5(SCN5A):c.5452_5454delinsAAC (p.Asp1818Asn)
|
rs2061022221
|
|
|
NM_000335.5(SCN5A):c.5454_5455inv (p.Ala1819Thr)
|
|
|
|
NM_000335.5(SCN5A):c.5457C>T (p.Ala1819=)
|
rs1575704767
|
|
|
NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs)
|
rs794728924
|
|
|
NM_000335.5(SCN5A):c.5488A>C (p.Asn1830His)
|
rs2125825520
|
|
|
NM_000335.5(SCN5A):c.5505C>A (p.Ile1835=)
|
rs2125825453
|
|
|
NM_000335.5(SCN5A):c.5510T>A (p.Met1837Lys)
|
rs1559720415
|
|
|
NM_000335.5(SCN5A):c.5524G>C (p.Val1842Leu)
|
rs1559720356
|
|
|
NM_000335.5(SCN5A):c.5549T>A (p.Met1850Lys)
|
rs2061019005
|
|
|
NM_000335.5(SCN5A):c.5563G>C (p.Ala1855Pro)
|
|
|
|
NM_000335.5(SCN5A):c.5573A>G (p.Lys1858Arg)
|
rs2061018536
|
|
|
NM_000335.5(SCN5A):c.5576G>A (p.Arg1859Lys)
|
rs1559720220
|
|
|
NM_000335.5(SCN5A):c.5577G>T (p.Arg1859Ser)
|
rs2061018431
|
|
|
NM_000335.5(SCN5A):c.5578G>C (p.Val1860Leu)
|
rs199473636
|
|
|
NM_000335.5(SCN5A):c.5586G>A (p.Gly1862=)
|
rs2061018128
|
|
|
NM_000335.5(SCN5A):c.5587G>A (p.Glu1863Lys)
|
rs1060501129
|
|
|
NM_000335.5(SCN5A):c.5631G>A (p.Lys1877=)
|
|
|
|
NM_000335.5(SCN5A):c.5636T>C (p.Met1879Thr)
|
rs2125825169
|
|
|
NM_000335.5(SCN5A):c.5637G>A (p.Met1879Ile)
|
|
|
|
NM_000335.5(SCN5A):c.5648C>T (p.Pro1883Leu)
|
rs755162776
|
|
|
NM_000335.5(SCN5A):c.5681C>T (p.Thr1894Ile)
|
rs773829094
|
|
|
NM_000335.5(SCN5A):c.568C>T (p.Arg190Trp)
|
rs199473068
|
|
|
NM_000335.5(SCN5A):c.5698G>A (p.Glu1900Lys)
|
rs199473325
|
|
|
NM_000335.5(SCN5A):c.5701G>C (p.Glu1901Gln)
|
rs1553692534
|
|
|
NM_000335.5(SCN5A):c.5704G>T (p.Val1902Leu)
|
rs864622270
|
|
|
NM_000335.5(SCN5A):c.5712C>T (p.Ala1904=)
|
rs1553692524
|
|
|
NM_000335.5(SCN5A):c.5713A>G (p.Met1905Val)
|
rs923779348
|
|
|
NM_000335.5(SCN5A):c.5723A>G (p.Gln1908Arg)
|
rs199473326
|
|
|
NM_000335.5(SCN5A):c.5739G>T (p.Arg1913Ser)
|
rs2061014141
|
|
|
NM_000335.5(SCN5A):c.5742C>A (p.His1914Gln)
|
rs1314879329
|
|
|
NM_000335.5(SCN5A):c.5753G>C (p.Arg1918Pro)
|
rs141107387
|
|
|
NM_000335.5(SCN5A):c.5755T>G (p.Ser1919Ala)
|
rs2061013560
|
|
|
NM_000335.5(SCN5A):c.5764C>T (p.His1922Tyr)
|
rs775091232
|
|
|
NM_000335.5(SCN5A):c.5768C>T (p.Ala1923Val)
|
rs2125824845
|
|
|
NM_000335.5(SCN5A):c.5772C>T (p.Ser1924=)
|
rs199687668
|
|
|
NM_000335.5(SCN5A):c.5786A>G (p.Gln1929Arg)
|
rs2061012301
|
|
|
NM_000335.5(SCN5A):c.5790G>A (p.Gln1930=)
|
rs2061012191
|
|
|
NM_000335.5(SCN5A):c.5793G>C (p.Ala1931=)
|
rs200594132
|
|
|
NM_000335.5(SCN5A):c.5795G>C (p.Gly1932Ala)
|
rs758704113
|
|
|
NM_000335.5(SCN5A):c.5796C>A (p.Gly1932=)
|
rs2061011853
|
|
|
NM_000335.5(SCN5A):c.5796C>T (p.Gly1932=)
|
rs2061011853
|
|
|
NM_000335.5(SCN5A):c.5814G>T (p.Glu1938Asp)
|
rs2125824710
|
|
|
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)
|
rs41315493
|
|
|
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)
|
rs41315493
|
|
|
NM_000335.5(SCN5A):c.5855G>A (p.Ser1952Asn)
|
rs781270220
|
|
|
NM_000335.5(SCN5A):c.5856_5859del (p.Ser1952fs)
|
rs758317466
|
|
|
NM_000335.5(SCN5A):c.5868C>G (p.Ser1956=)
|
rs540413120
|
|
|
NM_000335.5(SCN5A):c.5870G>T (p.Arg1957Leu)
|
rs199473331
|
|
|
NM_000335.5(SCN5A):c.5900_5908dup (p.Ile1967_Ser1969dup)
|
rs1332941398
|
|
|
NM_000335.5(SCN5A):c.5911T>C (p.Ser1971Pro)
|
|
|
|
NM_000335.5(SCN5A):c.5914T>C (p.Phe1972Leu)
|
|
|
|
NM_000335.5(SCN5A):c.5962C>T (p.Gln1988Ter)
|
rs2125824243
|
|
|
NM_000335.5(SCN5A):c.5972G>T (p.Gly1991Val)
|
rs558904601
|
|
|
NM_000335.5(SCN5A):c.5977G>C (p.Asp1993His)
|
|
|
|
NM_000335.5(SCN5A):c.5995G>C (p.Asp1999His)
|
rs764195092
|
|
|
NM_000335.5(SCN5A):c.6007T>A (p.Phe2003Ile)
|
rs41311117
|
|
|
NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val)
|
rs41311117
|
|
|
NM_000335.5(SCN5A):c.6011C>A (p.Pro2004His)
|
rs779649600
|
|
|
NM_000335.5(SCN5A):c.6012C>T (p.Pro2004=)
|
rs2125824075
|
|
|
NM_000335.5(SCN5A):c.6013C>A (p.Pro2005Thr)
|
|
|
|
NM_000335.5(SCN5A):c.6026_*24del (p.Arg2009fs)
|
|
|
|
NM_000335.5(SCN5A):c.6044T>A (p.Val2015Glu)
|
|
|
|
NM_000335.5(SCN5A):c.611+1G>A
|
rs794728843
|
|
|
NM_000335.5(SCN5A):c.612-12C>A
|
|
|
|
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)
|
rs794728849
|
|
|
NM_000335.5(SCN5A):c.681G>A (p.Leu227=)
|
rs369623575
|
|
|
NM_000335.5(SCN5A):c.703+1G>T
|
rs2125914209
|
|
|
NM_000335.5(SCN5A):c.703+6A>G
|
rs781104838
|
|
|
NM_000335.5(SCN5A):c.704-13T>C
|
|
|
|
NM_000335.5(SCN5A):c.704-14C>A
|
|
|
|
NM_000335.5(SCN5A):c.704-9C>T
|
|
|
|
NM_000335.5(SCN5A):c.714C>A (p.Thr238=)
|
rs769388483
|
|
|
NM_000335.5(SCN5A):c.714C>T (p.Thr238=)
|
rs769388483
|
|
|
NM_000335.5(SCN5A):c.71T>C (p.Ile24Thr)
|
rs2062569061
|
|
|
NM_000335.5(SCN5A):c.724G>A (p.Ala242Thr)
|
rs1311277481
|
|
|
NM_000335.5(SCN5A):c.726C>A (p.Ala242=)
|
rs746812420
|
|
|
NM_000335.5(SCN5A):c.726C>T (p.Ala242=)
|
rs746812420
|
|
|
NM_000335.5(SCN5A):c.727C>G (p.Leu243Val)
|
rs2125910512
|
|
|
NM_000335.5(SCN5A):c.729G>A (p.Leu243=)
|
rs2125910506
|
|
|
NM_000335.5(SCN5A):c.732C>T (p.Ile244=)
|
|
|
|
NM_000335.5(SCN5A):c.738T>A (p.Ser246=)
|
rs2062085812
|
|
|
NM_000335.5(SCN5A):c.795C>T (p.Ala265=)
|
rs527692731
|
|
|
NM_000335.5(SCN5A):c.802G>A (p.Gly268Ser)
|
rs750990576
|
|
|
NM_000335.5(SCN5A):c.80G>T (p.Arg27Leu)
|
rs199473045
|
|
|
NM_000335.5(SCN5A):c.82A>C (p.Met28Leu)
|
rs748805919
|
|
|
NM_000335.5(SCN5A):c.82A>T (p.Met28Leu)
|
rs748805919
|
|
|
NM_000335.5(SCN5A):c.832C>T (p.His278Tyr)
|
rs199473562
|
|
|
NM_000335.5(SCN5A):c.834C>T (p.His278=)
|
rs764610814
|
|
|
NM_000335.5(SCN5A):c.849C>T (p.Asn283=)
|
rs1275451960
|
|
|
NM_000335.5(SCN5A):c.852C>T (p.Phe284=)
|
rs1049056998
|
|
|
NM_000335.5(SCN5A):c.855A>G (p.Thr285=)
|
|
|
|
NM_000335.5(SCN5A):c.856G>C (p.Ala286Pro)
|
rs61746118
|
|
|
NM_000335.5(SCN5A):c.863A>G (p.Asn288Ser)
|
|
|
|
NM_000335.5(SCN5A):c.889G>A (p.Asp297Asn)
|
rs794728853
|
|
|
NM_000335.5(SCN5A):c.899T>A (p.Val300Asp)
|
rs1575813063
|
|
|
NM_000335.5(SCN5A):c.909C>A (p.Ser303=)
|
rs2062080048
|
|
|
NM_000335.5(SCN5A):c.915C>T (p.Asp305=)
|
rs1427230517
|
|
|
NM_000335.5(SCN5A):c.934+1G>A
|
rs1320531023
|
|
|
NM_000335.5(SCN5A):c.94C>G (p.Gln32Glu)
|
rs2062567690
|
|
|
NM_000335.5(SCN5A):c.962C>T (p.Ser321Phe)
|
rs2062047890
|
|
|
NM_000335.5(SCN5A):c.984C>T (p.Asn328=)
|
|
|
|
NM_000335.5(SCN5A):c.988T>A (p.Ser330Thr)
|
rs781073875
|
|
|
NM_000335.5(SCN5A):c.98C>T (p.Ala33Val)
|
rs1288398293
|
|
|
NM_000335.5(SCN5A):c.996T>C (p.Ala332=)
|
rs1419038022
|
|
|
NM_000363.5(TNNI3):c.*3C>T
|
rs1568856984
|
|
|
NM_000363.5(TNNI3):c.-13C>A
|
rs2147286713
|
|
|
NM_000363.5(TNNI3):c.104C>T (p.Ala35Val)
|
rs1190447904
|
|
|
NM_000363.5(TNNI3):c.109-15A>G
|
rs779144176
|
|
|
NM_000363.5(TNNI3):c.114A>T (p.Lys38Asn)
|
rs730881066
|
|
|
NM_000363.5(TNNI3):c.114del (p.Lys38fs)
|
rs772607683
|
|
|
NM_000363.5(TNNI3):c.114dup (p.Ser39fs)
|
rs772607683
|
|
|
NM_000363.5(TNNI3):c.116C>G (p.Ser39Cys)
|
rs2085732731
|
|
|
NM_000363.5(TNNI3):c.12-4C>T
|
rs769896482
|
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
|
NM_000363.5(TNNI3):c.120G>A (p.Lys40=)
|
rs2085732703
|
|
|
NM_000363.5(TNNI3):c.122T>A (p.Ile41Asn)
|
rs2085732683
|
|
|
NM_000363.5(TNNI3):c.129C>T (p.Ala43=)
|
|
|
|
NM_000363.5(TNNI3):c.12G>A (p.Gly4=)
|
|
|
|
NM_000363.5(TNNI3):c.136A>T (p.Lys46Ter)
|
rs2085732554
|
|
|
NM_000363.5(TNNI3):c.151-12A>C
|
rs2085729835
|
|
|
NM_000363.5(TNNI3):c.156G>A (p.Leu52=)
|
rs2085729640
|
|
|
NM_000363.5(TNNI3):c.157C>T (p.Leu53=)
|
rs763981651
|
|
|
NM_000363.5(TNNI3):c.15C>A (p.Ser5Arg)
|
rs989588363
|
|
|
NM_000363.5(TNNI3):c.173A>C (p.Lys58Thr)
|
rs878853955
|
|
|
NM_000363.5(TNNI3):c.175C>G (p.Gln59Glu)
|
rs2085729446
|
|
|
NM_000363.5(TNNI3):c.179A>G (p.Glu60Gly)
|
rs2085729410
|
|
|
NM_000363.5(TNNI3):c.194C>T (p.Ala65Val)
|
rs1057518784
|
|
|
NM_000363.5(TNNI3):c.197A>G (p.Glu66Gly)
|
|
|
|
NM_000363.5(TNNI3):c.201G>A (p.Glu67=)
|
|
|
|
NM_000363.5(TNNI3):c.204del (p.Arg69fs)
|
rs727504872
|
|
|
NM_000363.5(TNNI3):c.207C>A (p.Arg69=)
|
|
|
|
NM_000363.5(TNNI3):c.220C>A (p.Arg74Ser)
|
rs375795196
|
|
|
NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys)
|
rs375795196
|
|
|
NM_000363.5(TNNI3):c.221_237dup (p.Cys80delinsAlaLeuTer)
|
rs2085728611
|
|
|
NM_000363.5(TNNI3):c.223G>T (p.Ala75Ser)
|
rs1187997222
|
|
|
NM_000363.5(TNNI3):c.227T>C (p.Leu76Pro)
|
rs1443859469
|
|
|
NM_000363.5(TNNI3):c.234C>A (p.Thr78=)
|
|
|
|
NM_000363.5(TNNI3):c.235C>A (p.Arg79Ser)
|
rs3729712
|
|
|
NM_000363.5(TNNI3):c.235_236insT (p.Arg79fs)
|
rs2085728638
|
|
|
NM_000363.5(TNNI3):c.239G>A (p.Cys80Tyr)
|
|
|
|
NM_000363.5(TNNI3):c.241C>T (p.Gln81Ter)
|
rs2147284889
|
|
|
NM_000363.5(TNNI3):c.245C>G (p.Pro82Arg)
|
rs752503819
|
|
|
NM_000363.5(TNNI3):c.25-10_25-8del
|
rs2147286052
|
|
|
NM_000363.5(TNNI3):c.258del (p.Leu88fs)
|
rs727503507
|
|
|
NM_000363.5(TNNI3):c.259G>C (p.Gly87Arg)
|
rs1276684253
|
|
|
NM_000363.5(TNNI3):c.260G>C (p.Gly87Ala)
|
rs2085728343
|
|
|
NM_000363.5(TNNI3):c.271G>A (p.Ala91Thr)
|
rs1568859108
|
|
|
NM_000363.5(TNNI3):c.274G>A (p.Glu92Lys)
|
rs2085728215
|
|
|
NM_000363.5(TNNI3):c.279G>A (p.Leu93=)
|
rs1568859087
|
|
|
NM_000363.5(TNNI3):c.283-10C>A
|
rs1470947353
|
|
|
NM_000363.5(TNNI3):c.283-13G>T
|
rs552152124
|
|
|
NM_000363.5(TNNI3):c.28A>G (p.Arg10Gly)
|
rs2085739021
|
|
|
NM_000363.5(TNNI3):c.292C>G (p.Arg98Gly)
|
rs730881068
|
|
|
NM_000363.5(TNNI3):c.294A>G (p.Arg98=)
|
rs1568858567
|
|
|
NM_000363.5(TNNI3):c.298C>T (p.Leu100Phe)
|
rs773216333
|
|
|
NM_000363.5(TNNI3):c.307C>A (p.Arg103Ser)
|
rs397516344
|
|
|
NM_000363.5(TNNI3):c.30G>T (p.Arg10Ser)
|
rs2085738998
|
|
|
NM_000363.5(TNNI3):c.318G>A (p.Lys106=)
|
rs750350912
|
|
|
NM_000363.5(TNNI3):c.318G>C (p.Lys106Asn)
|
rs750350912
|
|
|
NM_000363.5(TNNI3):c.328G>A (p.Glu110Lys)
|
rs2147283707
|
|
|
NM_000363.5(TNNI3):c.330G>A (p.Glu110=)
|
rs1010374485
|
|
|
NM_000363.5(TNNI3):c.337G>T (p.Asp113Tyr)
|
|
|
|
NM_000363.5(TNNI3):c.346G>A (p.Ala116Thr)
|
rs2085716374
|
|
|
NM_000363.5(TNNI3):c.354C>T (p.Val118=)
|
rs2085716325
|
|
|
NM_000363.5(TNNI3):c.357C>G (p.Thr119=)
|
|
|
|
NM_000363.5(TNNI3):c.362A>T (p.Asn121Ile)
|
rs2085716252
|
|
|
NM_000363.5(TNNI3):c.371_372+4del
|
rs2085716080
|
|
|
NM_000363.5(TNNI3):c.373-11T>C
|
rs746918706
|
|
|
NM_000363.5(TNNI3):c.373-12G>A
|
|
|
|
NM_000363.5(TNNI3):c.373-14del
|
rs1472113441
|
|
|
NM_000363.5(TNNI3):c.373-8G>A
|
rs369244036
|
|
|
NM_000363.5(TNNI3):c.389A>G (p.Gln130Arg)
|
rs1390435424
|
|
|
NM_000363.5(TNNI3):c.402C>T (p.Asp134=)
|
rs2085712789
|
|
|
NM_000363.5(TNNI3):c.421C>G (p.Arg141Gly)
|
rs730881071
|
|
|
NM_000363.5(TNNI3):c.432G>T (p.Leu144=)
|
rs776615304
|
|
|
NM_000363.5(TNNI3):c.441G>C (p.Val147=)
|
rs2085712211
|
|
|
NM_000363.5(TNNI3):c.458C>T (p.Ala153Val)
|
rs730881073
|
|
|
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)
|
rs397516353
|
|
|
NM_000363.5(TNNI3):c.48_64del (p.Ala17fs)
|
rs2085738631
|
|
|
NM_000363.5(TNNI3):c.500T>C (p.Leu167Pro)
|
rs1391407750
|
|
|
NM_000363.5(TNNI3):c.508C>A (p.Arg170=)
|
rs727503504
|
|
|
NM_000363.5(TNNI3):c.522G>A (p.Lys174=)
|
rs730880231
|
|
|
NM_000363.5(TNNI3):c.52C>G (p.Pro18Ala)
|
rs779416591
|
|
|
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly)
|
rs1060499912
|
|
|
NM_000363.5(TNNI3):c.548A>G (p.Lys183Arg)
|
|
|
|
NM_000363.5(TNNI3):c.550-12G>T
|
|
|
|
NM_000363.5(TNNI3):c.55A>C (p.Ile19Leu)
|
rs755862334
|
|
|
NM_000363.5(TNNI3):c.567A>G (p.Gly189=)
|
rs902161211
|
|
|
NM_000363.5(TNNI3):c.578A>G (p.Lys193Arg)
|
|
|
|
NM_000363.5(TNNI3):c.581A>C (p.Asn194Thr)
|
rs730881081
|
|
|
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val)
|
rs397516359
|
|
|
NM_000363.5(TNNI3):c.612C>G (p.Arg204=)
|
rs1599907540
|
|
|
NM_000363.5(TNNI3):c.67TCC[1] (p.Ser24del)
|
rs2085738445
|
|
|
NM_000363.5(TNNI3):c.71C>T (p.Ser24Phe)
|
rs1056846497
|
|
|
NM_000363.5(TNNI3):c.73A>G (p.Asn25Asp)
|
rs2085738407
|
|
|
NM_000363.5(TNNI3):c.74A>T (p.Asn25Ile)
|
rs1555864368
|
|
|
NM_000363.5(TNNI3):c.75C>G (p.Asn25Lys)
|
rs1568859781
|
|
|
NM_000363.5(TNNI3):c.82G>T (p.Ala28Ser)
|
|
|
|
NM_000363.5(TNNI3):c.88G>A (p.Ala30Thr)
|
rs796104366
|
|
|
NM_000363.5(TNNI3):c.91A>G (p.Thr31Ala)
|
rs1298916040
|
|
|
NM_000363.5(TNNI3):c.9T>C (p.Asp3=)
|
rs2085744143
|
|
|
NM_000366.2(TPM1):c.831T>A (p.Thr277=)
|
rs2036588544
|
|
|
NM_000366.2(TPM1):c.849C>T (p.Asn283=)
|
rs1057521824
|
|
|
NM_000366.2(TPM1):c.854G>A (p.Ter285=)
|
rs199538190
|
|
|
NM_000432.4(MYL2):c.-12G>A
|
rs886048962
|
|
|
NM_000432.4(MYL2):c.-16_-13del
|
rs2071716291
|
|
|
NM_000432.4(MYL2):c.-3A>G
|
rs1313785501
|
|
|
NM_000432.4(MYL2):c.103A>G (p.Ile35Val)
|
rs730880946
|
|
|
NM_000432.4(MYL2):c.110A>G (p.Asp37Gly)
|
rs2136774114
|
|
|
NM_000432.4(MYL2):c.11A>G (p.Lys4Arg)
|
|
|
|
NM_000432.4(MYL2):c.135C>A (p.Asp45Glu)
|
rs199474807
|
|
|
NM_000432.4(MYL2):c.135C>T (p.Asp45=)
|
rs199474807
|
|
|
NM_000432.4(MYL2):c.139A>T (p.Asn47Tyr)
|
rs2136774049
|
|
|
NM_000432.4(MYL2):c.141C>T (p.Asn47=)
|
rs199474808
|
|
|
NM_000432.4(MYL2):c.142G>C (p.Asp48His)
|
rs727504405
|
|
|
NM_000432.4(MYL2):c.144T>A (p.Asp48Glu)
|
rs2136774026
|
|
|
NM_000432.4(MYL2):c.151G>T (p.Asp51Tyr)
|
rs2071683858
|
|
|
NM_000432.4(MYL2):c.161C>T (p.Ala54Val)
|
rs2136773989
|
|
|
NM_000432.4(MYL2):c.170-20GT[3]
|
rs764824483
|
|
|
NM_000432.4(MYL2):c.170-4C>T
|
|
|
|
NM_000432.4(MYL2):c.172C>A (p.Arg58=)
|
rs756671869
|
|
|
NM_000432.4(MYL2):c.174A>G (p.Arg58=)
|
rs777225996
|
|
|
NM_000432.4(MYL2):c.176T>A (p.Val59Glu)
|
rs2071674771
|
|
|
NM_000432.4(MYL2):c.181G>A (p.Val61Met)
|
rs730880949
|
|
|
NM_000432.4(MYL2):c.188del (p.Asn63fs)
|
rs1177936172
|
|
|
NM_000432.4(MYL2):c.216G>C (p.Glu72Asp)
|
rs376506450
|
|
|
NM_000432.4(MYL2):c.241G>A (p.Val81Met)
|
rs762872370
|
|
|
NM_000432.4(MYL2):c.275-1G>A
|
rs764312941
|
|
|
NM_000432.4(MYL2):c.275-2A>G
|
rs112557362
|
|
|
NM_000432.4(MYL2):c.298C>G (p.Leu100Val)
|
rs573898913
|
|
|
NM_000432.4(MYL2):c.299_309del (p.Leu100fs)
|
rs2071666850
|
|
|
NM_000432.4(MYL2):c.302A>G (p.Asn101Ser)
|
rs886048960
|
|
|
NM_000432.4(MYL2):c.304G>T (p.Ala102Ser)
|
rs369868176
|
|
|
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys)
|
rs547860537
|
|
|
NM_000432.4(MYL2):c.310A>C (p.Lys104Gln)
|
rs199474811
|
|
|
NM_000432.4(MYL2):c.310A>G (p.Lys104Glu)
|
rs199474811
|
|
|
NM_000432.4(MYL2):c.316_319del (p.Phe106fs)
|
rs2071666714
|
|
|
NM_000432.4(MYL2):c.31G>C (p.Gly11Arg)
|
rs397516402
|
|
|
NM_000432.4(MYL2):c.337dup (p.Val113fs)
|
|
|
|
NM_000432.4(MYL2):c.341T>G (p.Leu114Arg)
|
rs2071666465
|
|
|
NM_000432.4(MYL2):c.347C>T (p.Ala116Val)
|
rs1566148270
|
|
|
NM_000432.4(MYL2):c.34G>A (p.Gly12Ser)
|
rs730880937
|
|
|
NM_000432.4(MYL2):c.353+6T>A
|
rs372824804
|
|
|
NM_000432.4(MYL2):c.354-8C>G
|
rs767657562
|
|
|
NM_000432.4(MYL2):c.358C>T (p.Arg120Trp)
|
rs397516404
|
|
|
NM_000432.4(MYL2):c.35G>T (p.Gly12Val)
|
rs762584624
|
|
|
NM_000432.4(MYL2):c.376C>G (p.Gln126Glu)
|
rs1064796377
|
|
|
NM_000432.4(MYL2):c.384G>A (p.Glu128=)
|
|
|
|
NM_000432.4(MYL2):c.391T>A (p.Ser131Thr)
|
|
|
|
NM_000432.4(MYL2):c.4-13dup
|
rs756245911
|
|
|
NM_000432.4(MYL2):c.4-3C>G
|
|
|
|
NM_000432.4(MYL2):c.4-9T>A
|
rs758688050
|
|
|
NM_000432.4(MYL2):c.402+3A>G
|
rs113740554
|
|
|
NM_000432.4(MYL2):c.403-15G>C
|
rs202105636
|
|
|
NM_000432.4(MYL2):c.417C>T (p.Phe139=)
|
rs781107246
|
|
|
NM_000432.4(MYL2):c.420C>T (p.Ala140=)
|
rs369489428
|
|
|
NM_000432.4(MYL2):c.424T>C (p.Phe142Leu)
|
rs747192296
|
|
|
NM_000432.4(MYL2):c.426C>T (p.Phe142=)
|
rs1592798603
|
|
|
NM_000432.4(MYL2):c.430C>T (p.Pro144Ser)
|
rs777689913
|
|
|
NM_000432.4(MYL2):c.431C>A (p.Pro144His)
|
rs755993281
|
|
|
NM_000432.4(MYL2):c.431_432del (p.Pro144fs)
|
rs1566147422
|
|
|
NM_000432.4(MYL2):c.433G>T (p.Asp145Tyr)
|
rs199567559
|
|
|
NM_000432.4(MYL2):c.435C>T (p.Asp145=)
|
rs766907447
|
|
|
NM_000432.4(MYL2):c.438dup (p.Thr147fs)
|
rs2071649166
|
|
|
NM_000432.4(MYL2):c.441_442insTCACT (p.Gly148fs)
|
rs2071649075
|
|
|
NM_000432.4(MYL2):c.449T>C (p.Leu150Ser)
|
rs2071648869
|
|
|
NM_000432.4(MYL2):c.463C>T (p.Leu155=)
|
rs1592798503
|
|
|
NM_000432.4(MYL2):c.475A>G (p.Ile159Val)
|
rs747098269
|
|
|
NM_000432.4(MYL2):c.480C>T (p.Thr160=)
|
rs727505065
|
|
|
NM_000432.4(MYL2):c.49del (p.Val17fs)
|
rs2136777366
|
|
|
NM_000432.4(MYL2):c.56C>G (p.Ser19Cys)
|
rs2071704028
|
|
|
NM_000432.4(MYL2):c.58A>G (p.Met20Val)
|
rs199474816
|
|
|
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)
|
rs104894368
|
|
|
NM_000432.4(MYL2):c.78C>T (p.Ile26=)
|
rs755926255
|
|
|
NM_000432.4(MYL2):c.92_93+1del
|
rs751392310
|
|
|
NM_000432.4(MYL2):c.93+5G>A
|
rs2071703564
|
|
|
NM_000432.4(MYL2):c.94-10C>T
|
rs2071684471
|
|
|
NM_000432.4(MYL2):c.94-3C>T
|
rs112865045
|
|
|
NM_001005242.3(PKP2):c.-11C>T
|
|
|
|
NM_001005242.3(PKP2):c.-15G>A
|
rs886049325
|
|
|
NM_001005242.3(PKP2):c.-15G>C
|
rs886049325
|
|
|
NM_001005242.3(PKP2):c.-15G>T
|
rs886049325
|
|
|
NM_001005242.3(PKP2):c.-6G>T
|
|
|
|
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro)
|
rs770443705
|
|
|
NM_001005242.3(PKP2):c.101C>G (p.Ser34Cys)
|
rs1957128054
|
|
|
NM_001005242.3(PKP2):c.1028A>G (p.Gln343Arg)
|
rs762744983
|
|
|
NM_001005242.3(PKP2):c.1029G>A (p.Gln343=)
|
|
|
|
NM_001005242.3(PKP2):c.1035-10G>T
|
rs1448052777
|
|
|
NM_001005242.3(PKP2):c.1035-13C>T
|
rs1189037360
|
|
|
NM_001005242.3(PKP2):c.1035G>A (p.Gly345=)
|
rs905404609
|
|
|
NM_001005242.3(PKP2):c.103G>A (p.Glu35Lys)
|
|
|
|
NM_001005242.3(PKP2):c.1044C>T (p.Asp348=)
|
rs1956875468
|
|
|
NM_001005242.3(PKP2):c.1048G>A (p.Glu350Lys)
|
rs147264025
|
|
|
NM_001005242.3(PKP2):c.1073G>A (p.Ser358Asn)
|
rs1215591759
|
|
|
NM_001005242.3(PKP2):c.1081G>A (p.Glu361Lys)
|
|
|
|
NM_001005242.3(PKP2):c.1101A>G (p.Pro367=)
|
rs776927054
|
|
|
NM_001005242.3(PKP2):c.1114G>A (p.Ala372Thr)
|
rs200586695
|
|
|
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)
|
rs200586695
|
|
|
NM_001005242.3(PKP2):c.1128dup (p.Ile377fs)
|
rs1956873853
|
|
|
NM_001005242.3(PKP2):c.1133A>G (p.Gln378Arg)
|
rs1956873618
|
|
|
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter)
|
rs878898365
|
|
|
NM_001005242.3(PKP2):c.1154C>G (p.Ser385Cys)
|
rs1956873230
|
|
|
NM_001005242.3(PKP2):c.1163G>C (p.Arg388Pro)
|
rs756000218
|
|
|
NM_001005242.3(PKP2):c.1170+5G>A
|
rs794729105
|
|
|
NM_001005242.3(PKP2):c.1171-3C>T
|
|
|
|
NM_001005242.3(PKP2):c.1183C>A (p.Arg395Ser)
|
rs761238380
|
|
|
NM_001005242.3(PKP2):c.1184G>A (p.Arg395His)
|
rs773611613
|
|
|
NM_001005242.3(PKP2):c.118C>G (p.Leu40Val)
|
rs1039022167
|
|
|
NM_001005242.3(PKP2):c.1201C>A (p.Leu401Met)
|
|
|
|
NM_001005242.3(PKP2):c.1202T>A (p.Leu401Gln)
|
|
|
|
NM_001005242.3(PKP2):c.1212A>G (p.Leu404=)
|
rs1592750669
|
|
|
NM_001005242.3(PKP2):c.122C>T (p.Ala41Val)
|
rs1220759009
|
|
|
NM_001005242.3(PKP2):c.1233T>G (p.Val411=)
|
rs2137863106
|
|
|
NM_001005242.3(PKP2):c.1244T>G (p.Val415Gly)
|
rs1335415987
|
|
|
NM_001005242.3(PKP2):c.1249G>A (p.Gly417Arg)
|
rs1956690284
|
|
|
NM_001005242.3(PKP2):c.1251G>T (p.Gly417=)
|
rs567854722
|
|
|
NM_001005242.3(PKP2):c.1263C>T (p.Asn421=)
|
rs2137862862
|
|
|
NM_001005242.3(PKP2):c.1269A>G (p.Val423=)
|
rs2137862829
|
|
|
NM_001005242.3(PKP2):c.1270T>A (p.Phe424Ile)
|
rs1956690020
|
|
|
NM_001005242.3(PKP2):c.1293_1294delinsAGTTC (p.Glu432delinsValGln)
|
rs1956689523
|
|
|
NM_001005242.3(PKP2):c.1319C>T (p.Pro440Leu)
|
rs1956689076
|
|
|
NM_001005242.3(PKP2):c.131G>A (p.Ser44Asn)
|
|
|
|
NM_001005242.3(PKP2):c.1328T>C (p.Leu443Pro)
|
rs1314470423
|
|
|
NM_001005242.3(PKP2):c.134G>A (p.Gly45Asp)
|
|
|
|
NM_001005242.3(PKP2):c.1369C>T (p.Gln457Ter)
|
rs1956688410
|
|
|
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer)
|
rs397516993
|
|
|
NM_001005242.3(PKP2):c.1378+1G>A
|
rs397516994
|
|
|
NM_001005242.3(PKP2):c.1379-15T>C
|
|
|
|
NM_001005242.3(PKP2):c.1379-1976G>T
|
rs1332615728
|
|
|
NM_001005242.3(PKP2):c.1379-1984C>G
|
rs759017992
|
|
|
NM_001005242.3(PKP2):c.1379-1985A>G
|
rs1193122924
|
|
|
NM_001005242.3(PKP2):c.1379-1986G>T
|
rs1956614139
|
|
|
NM_001005242.3(PKP2):c.1379-1989C>A
|
|
|
|
NM_001005242.3(PKP2):c.1379-1997G>T
|
rs781072699
|
|
|
NM_001005242.3(PKP2):c.1379-2008G>A
|
|
|
|
NM_001005242.3(PKP2):c.1379-2013A>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-2018G>T
|
rs369518480
|
|
|
NM_001005242.3(PKP2):c.1379-2039C>T
|
rs1257306156
|
|
|
NM_001005242.3(PKP2):c.1379-2047_1379-2043del
|
rs775995156
|
|
|
NM_001005242.3(PKP2):c.1379-2056C>A
|
rs749052785
|
|
|
NM_001005242.3(PKP2):c.1379-2067_1379-2066delinsAT
|
rs2137838213
|
|
|
NM_001005242.3(PKP2):c.1379-2068_1379-2066delinsTGT
|
rs886038926
|
|
|
NM_001005242.3(PKP2):c.1379-2070G>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-2072C>G
|
rs758950276
|
|
|
NM_001005242.3(PKP2):c.1379-2075_1379-2074dup
|
|
|
|
NM_001005242.3(PKP2):c.1379-2101A>G
|
rs1424035271
|
|
|
NM_001005242.3(PKP2):c.1379-2107C>A
|
rs751862142
|
|
|
NM_001005242.3(PKP2):c.1379-2112_1379-2099del
|
rs1956617072
|
|
|
NM_001005242.3(PKP2):c.1379-2119C>A
|
rs371719724
|
|
|
NM_001005242.3(PKP2):c.1382T>C (p.Leu461Ser)
|
|
|
|
NM_001005242.3(PKP2):c.1395G>T (p.Leu465Phe)
|
rs1956588629
|
|
|
NM_001005242.3(PKP2):c.139GGC[3] (p.Gly48dup)
|
rs944330366
|
|
|
NM_001005242.3(PKP2):c.1406A>T (p.Asp469Val)
|
rs2137830944
|
|
|
NM_001005242.3(PKP2):c.1410A>G (p.Lys470=)
|
|
|
|
NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg)
|
rs749926313
|
|
|
NM_001005242.3(PKP2):c.1435G>T (p.Ala479Ser)
|
rs766622938
|
|
|
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg)
|
rs397516998
|
|
|
NM_001005242.3(PKP2):c.1447C>T (p.Leu483=)
|
rs2137830616
|
|
|
NM_001005242.3(PKP2):c.1478G>C (p.Gly493Ala)
|
rs1956587234
|
|
|
NM_001005242.3(PKP2):c.1479G>A (p.Gly493=)
|
rs2137830360
|
|
|
NM_001005242.3(PKP2):c.1485T>C (p.Pro495=)
|
rs879043258
|
|
|
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)
|
rs397516997
|
|
|
NM_001005242.3(PKP2):c.1497C>T (p.Tyr499=)
|
rs765139046
|
|
|
NM_001005242.3(PKP2):c.150A>G (p.Thr50=)
|
|
|
|
NM_001005242.3(PKP2):c.1511del (p.Gly504fs)
|
rs794729137
|
|
|
NM_001005242.3(PKP2):c.1515G>T (p.Leu505Phe)
|
|
|
|
NM_001005242.3(PKP2):c.1516C>T (p.Leu506Phe)
|
rs1956586574
|
|
|
NM_001005242.3(PKP2):c.1519G>T (p.Asp507Tyr)
|
rs763427502
|
|
|
NM_001005242.3(PKP2):c.1547G>T (p.Gly516Val)
|
rs1402108604
|
|
|
NM_001005242.3(PKP2):c.1548A>C (p.Gly516=)
|
rs2137829842
|
|
|
NM_001005242.3(PKP2):c.1556+1G>A
|
rs397517003
|
|
|
NM_001005242.3(PKP2):c.1556G>A (p.Arg519Lys)
|
rs2137829798
|
|
|
NM_001005242.3(PKP2):c.1557-14_1557-8del
|
rs1220372775
|
|
|
NM_001005242.3(PKP2):c.1557-8dup
|
rs200009796
|
|
|
NM_001005242.3(PKP2):c.1573G>A (p.Gly525Ser)
|
rs1956410714
|
|
|
NM_001005242.3(PKP2):c.1577C>T (p.Ala526Val)
|
|
|
|
NM_001005242.3(PKP2):c.1583G>A (p.Gly528Glu)
|
rs2137783679
|
|
|
NM_001005242.3(PKP2):c.1593G>A (p.Ala531=)
|
rs760093803
|
|
|
NM_001005242.3(PKP2):c.1593G>T (p.Ala531=)
|
rs760093803
|
|
|
NM_001005242.3(PKP2):c.1594A>T (p.Met532Leu)
|
rs1298544159
|
|
|
NM_001005242.3(PKP2):c.1597AGA[1] (p.Arg534del)
|
rs1956409943
|
|
|
NM_001005242.3(PKP2):c.15C>G (p.Gly5=)
|
rs1390632513
|
|
|
NM_001005242.3(PKP2):c.15C>T (p.Gly5=)
|
rs1390632513
|
|
|
NM_001005242.3(PKP2):c.1612C>T (p.Leu538Phe)
|
rs794729134
|
|
|
NM_001005242.3(PKP2):c.1614C>T (p.Leu538=)
|
rs1956409610
|
|
|
NM_001005242.3(PKP2):c.1620C>T (p.Asp540=)
|
rs1956409471
|
|
|
NM_001005242.3(PKP2):c.1627del (p.Val543fs)
|
rs397517008
|
|
|
NM_001005242.3(PKP2):c.1636G>A (p.Val546Ile)
|
rs1475361697
|
|
|
NM_001005242.3(PKP2):c.1638C>T (p.Val546=)
|
rs2137783220
|
|
|
NM_001005242.3(PKP2):c.1658A>C (p.Tyr553Ser)
|
rs1956408680
|
|
|
NM_001005242.3(PKP2):c.1663C>A (p.Pro555Thr)
|
rs771808028
|
|
|
NM_001005242.3(PKP2):c.1674G>C (p.Lys558Asn)
|
|
|
|
NM_001005242.3(PKP2):c.1674G>T (p.Lys558Asn)
|
rs1956408431
|
|
|
NM_001005242.3(PKP2):c.1675-3C>T
|
rs1592737932
|
|
|
NM_001005242.3(PKP2):c.1690G>A (p.Val564Met)
|
rs1565581029
|
|
|
NM_001005242.3(PKP2):c.1696A>G (p.Ile566Val)
|
rs794729110
|
|
|
NM_001005242.3(PKP2):c.1697_1728del (p.Ile566fs)
|
|
|
|
NM_001005242.3(PKP2):c.16G>T (p.Ala6Ser)
|
rs1190256335
|
|
|
NM_001005242.3(PKP2):c.1707C>G (p.Asn569Lys)
|
rs1254113735
|
|
|
NM_001005242.3(PKP2):c.1717C>T (p.Gln573Ter)
|
rs201405287
|
|
|
NM_001005242.3(PKP2):c.1737A>G (p.Pro579=)
|
rs766498974
|
|
|
NM_001005242.3(PKP2):c.1748C>T (p.Ser583Phe)
|
rs769817013
|
|
|
NM_001005242.3(PKP2):c.1758C>T (p.Ile586=)
|
|
|
|
NM_001005242.3(PKP2):c.176A>G (p.Gln59Arg)
|
|
|
|
NM_001005242.3(PKP2):c.1771C>T (p.Arg591Trp)
|
rs778928536
|
|
|
NM_001005242.3(PKP2):c.1775A>T (p.Asn592Ile)
|
rs1264675248
|
|
|
NM_001005242.3(PKP2):c.1779C>A (p.Ile593=)
|
rs2137777449
|
|
|
NM_001005242.3(PKP2):c.1791C>A (p.Asn597Lys)
|
|
|
|
NM_001005242.3(PKP2):c.1813G>C (p.Gly605Arg)
|
rs1956389925
|
|
|
NM_001005242.3(PKP2):c.1831G>A (p.Val611Ile)
|
|
|
|
NM_001005242.3(PKP2):c.1831G>T (p.Val611Leu)
|
rs1003410304
|
|
|
NM_001005242.3(PKP2):c.1839+6T>C
|
rs985611212
|
|
|
NM_001005242.3(PKP2):c.1843T>C (p.Tyr615His)
|
rs1221180761
|
|
|
NM_001005242.3(PKP2):c.1848G>A (p.Gln616=)
|
rs759353036
|
|
|
NM_001005242.3(PKP2):c.1851C>T (p.Asp617=)
|
rs752732048
|
|
|
NM_001005242.3(PKP2):c.1852G>A (p.Val618Met)
|
rs770909247
|
|
|
NM_001005242.3(PKP2):c.1856C>T (p.Pro619Leu)
|
rs1056066633
|
|
|
NM_001005242.3(PKP2):c.1862C>G (p.Pro621Arg)
|
rs773061639
|
|
|
NM_001005242.3(PKP2):c.1862C>T (p.Pro621Leu)
|
rs773061639
|
|
|
NM_001005242.3(PKP2):c.1869A>G (p.Glu623=)
|
rs749536693
|
|
|
NM_001005242.3(PKP2):c.1872G>A (p.Lys624=)
|
rs1395644069
|
|
|
NM_001005242.3(PKP2):c.1879C>T (p.Pro627Ser)
|
rs1956377569
|
|
|
NM_001005242.3(PKP2):c.1881del (p.Lys628fs)
|
rs764817683
|
|
|
NM_001005242.3(PKP2):c.1888G>C (p.Val630Leu)
|
rs143038626
|
|
|
NM_001005242.3(PKP2):c.1903C>T (p.His635Tyr)
|
rs757922359
|
|
|
NM_001005242.3(PKP2):c.1938C>G (p.Ile646Met)
|
|
|
|
NM_001005242.3(PKP2):c.1953C>T (p.Arg651=)
|
|
|
|
NM_001005242.3(PKP2):c.1960A>G (p.Thr654Ala)
|
rs1956375175
|
|
|
NM_001005242.3(PKP2):c.1981G>A (p.Ala661Thr)
|
rs1199864691
|
|
|
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met)
|
rs397517016
|
|
|
NM_001005242.3(PKP2):c.1998G>C (p.Thr666=)
|
rs371089832
|
|
|
NM_001005242.3(PKP2):c.1998G>T (p.Thr666=)
|
rs371089832
|
|
|
NM_001005242.3(PKP2):c.2003G>A (p.Gly668Glu)
|
rs1348373466
|
|
|
NM_001005242.3(PKP2):c.2006G>A (p.Ser669Asn)
|
|
|
|
NM_001005242.3(PKP2):c.2008G>A (p.Gly670Arg)
|
|
|
|
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=)
|
rs1956373944
|
|
|
NM_001005242.3(PKP2):c.2023_2024delinsCT (p.Ser675Leu)
|
rs1956192621
|
|
|
NM_001005242.3(PKP2):c.202G>A (p.Gly68Ser)
|
rs794729114
|
|
|
NM_001005242.3(PKP2):c.2030C>G (p.Ala677Gly)
|
rs1359431679
|
|
|
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=)
|
rs377504106
|
|
|
NM_001005242.3(PKP2):c.2057G>A (p.Gly686Asp)
|
|
|
|
NM_001005242.3(PKP2):c.2061G>A (p.Leu687=)
|
rs1488094311
|
|
|
NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter)
|
rs1956192035
|
|
|
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)
|
rs397517021
|
|
|
NM_001005242.3(PKP2):c.2067C>T (p.His689=)
|
rs2137725631
|
|
|
NM_001005242.3(PKP2):c.2097A>G (p.Pro699=)
|
|
|
|
NM_001005242.3(PKP2):c.2097_2099dup (p.Pro699_Ser700insArg)
|
rs1324822103
|
|
|
NM_001005242.3(PKP2):c.2148_2149del (p.Leu718fs)
|
rs1592729525
|
|
|
NM_001005242.3(PKP2):c.214G>T (p.Val72Leu)
|
rs397517019
|
|
|
NM_001005242.3(PKP2):c.2157G>A (p.Gln719=)
|
|
|
|
NM_001005242.3(PKP2):c.2167+1G>A
|
rs794729116
|
|
|
NM_001005242.3(PKP2):c.2168-4G>C
|
rs376231586
|
|
|
NM_001005242.3(PKP2):c.2172A>T (p.Lys724Asn)
|
rs752507257
|
|
|
NM_001005242.3(PKP2):c.2178T>C (p.Thr726=)
|
rs2137708905
|
|
|
NM_001005242.3(PKP2):c.217G>T (p.Gly73Cys)
|
rs2138009825
|
|
|
NM_001005242.3(PKP2):c.2182C>T (p.Pro728Ser)
|
|
|
|
NM_001005242.3(PKP2):c.2190G>A (p.Leu730=)
|
rs886049320
|
|
|
NM_001005242.3(PKP2):c.2216C>A (p.Pro739Gln)
|
rs758834771
|
|
|
NM_001005242.3(PKP2):c.2224G>A (p.Asp742Asn)
|
rs1956122133
|
|
|
NM_001005242.3(PKP2):c.2228T>G (p.Leu743Arg)
|
rs145553222
|
|
|
NM_001005242.3(PKP2):c.2234T>A (p.Ile745Asn)
|
rs543233804
|
|
|
NM_001005242.3(PKP2):c.223G>C (p.Gly75Arg)
|
rs765852160
|
|
|
NM_001005242.3(PKP2):c.224-13T>G
|
|
|
|
NM_001005242.3(PKP2):c.224-3C>G
|
rs786204387
|
|
|
NM_001005242.3(PKP2):c.224-7A>G
|
rs1956962618
|
|
|
NM_001005242.3(PKP2):c.2248T>G (p.Ser750Ala)
|
rs1431341096
|
|
|
NM_001005242.3(PKP2):c.2263T>C (p.Leu755=)
|
|
|
|
NM_001005242.3(PKP2):c.2265G>A (p.Leu755=)
|
rs267603441
|
|
|
NM_001005242.3(PKP2):c.2277C>G (p.Ile759Met)
|
rs1956120923
|
|
|
NM_001005242.3(PKP2):c.2280A>G (p.Gln760=)
|
|
|
|
NM_001005242.3(PKP2):c.2283C>G (p.Asn761Lys)
|
rs774405490
|
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
|
NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys)
|
rs139734328
|
|
|
NM_001005242.3(PKP2):c.2320G>A (p.Gly774Ser)
|
rs1592726250
|
|
|
NM_001005242.3(PKP2):c.2321G>A (p.Gly774Asp)
|
rs1192534020
|
|
|
NM_001005242.3(PKP2):c.2321G>T (p.Gly774Val)
|
rs1192534020
|
|
|
NM_001005242.3(PKP2):c.232C>A (p.His78Asn)
|
rs1956962463
|
|
|
NM_001005242.3(PKP2):c.2332A>T (p.Ile778Phe)
|
rs145324631
|
|
|
NM_001005242.3(PKP2):c.2338G>A (p.Ala780Thr)
|
rs1956119423
|
|
|
NM_001005242.3(PKP2):c.2348C>T (p.Ala783Val)
|
|
|
|
NM_001005242.3(PKP2):c.234C>T (p.His78=)
|
rs1591829350
|
|
|
NM_001005242.3(PKP2):c.2356G>A (p.Ala786Thr)
|
rs768463319
|
|
|
NM_001005242.3(PKP2):c.2357C>T (p.Ala786Val)
|
|
|
|
NM_001005242.3(PKP2):c.2358-15T>C
|
|
|
|
NM_001005242.3(PKP2):c.2367C>T (p.Ser789=)
|
rs1330430218
|
|
|
NM_001005242.3(PKP2):c.2376A>G (p.Ala792=)
|
rs2137698243
|
|
|
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)
|
rs727504432
|
|
|
NM_001005242.3(PKP2):c.2380A>G (p.Lys794Glu)
|
rs1247384437
|
|
|
NM_001005242.3(PKP2):c.2388T>C (p.Ala796=)
|
rs1956081645
|
|
|
NM_001005242.3(PKP2):c.2398C>T (p.Leu800=)
|
rs2137698131
|
|
|
NM_001005242.3(PKP2):c.2402A>G (p.Tyr801Cys)
|
rs1060501187
|
|
|
NM_001005242.3(PKP2):c.2405C>A (p.Ser802Tyr)
|
rs768808114
|
|
|
NM_001005242.3(PKP2):c.2416C>G (p.His806Asp)
|
rs2137697992
|
|
|
NM_001005242.3(PKP2):c.2419A>G (p.Thr807Ala)
|
|
|
|
NM_001005242.3(PKP2):c.2437_2445+41del
|
rs1064792928
|
|
|
NM_001005242.3(PKP2):c.2446-10dup
|
rs397517024
|
|
|
NM_001005242.3(PKP2):c.2446-4A>G
|
|
|
|
NM_001005242.3(PKP2):c.2446-9A>T
|
rs1057524088
|
|
|
NM_001005242.3(PKP2):c.2446G>A (p.Ala816Thr)
|
rs1956078237
|
|
|
NM_001005242.3(PKP2):c.2446G>T (p.Ala816Ser)
|
rs1956078237
|
|
|
NM_001005242.3(PKP2):c.2461A>G (p.Thr821Ala)
|
|
|
|
NM_001005242.3(PKP2):c.2473A>G (p.Asn825Asp)
|
|
|
|
NM_001005242.3(PKP2):c.2489A>G (p.Lys830Arg)
|
rs1956077369
|
|
|
NM_001005242.3(PKP2):c.2491G>T (p.Ala831Ser)
|
rs1202929042
|
|
|
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln)
|
rs202094467
|
|
|
NM_001005242.3(PKP2):c.250C>T (p.Pro84Ser)
|
rs756468173
|
|
|
NM_001005242.3(PKP2):c.2511_2513delinsATT (p.Asp837_Ter838delinsGluLeu)
|
rs2137697058
|
|
|
NM_001005242.3(PKP2):c.255G>A (p.Glu85=)
|
|
|
|
NM_001005242.3(PKP2):c.265A>T (p.Asn89Tyr)
|
rs1335621190
|
|
|
NM_001005242.3(PKP2):c.28T>C (p.Tyr10His)
|
rs1237779872
|
|
|
NM_001005242.3(PKP2):c.2T>C (p.Met1Thr)
|
rs1957129506
|
|
|
NM_001005242.3(PKP2):c.307C>G (p.Pro103Ala)
|
rs139215336
|
|
|
NM_001005242.3(PKP2):c.31G>A (p.Gly11Ser)
|
|
|
|
NM_001005242.3(PKP2):c.31G>T (p.Gly11Cys)
|
rs1250140346
|
|
|
NM_001005242.3(PKP2):c.328A>G (p.Met110Val)
|
|
|
|
NM_001005242.3(PKP2):c.336G>A (p.Lys112=)
|
rs2137952432
|
|
|
NM_001005242.3(PKP2):c.337-4G>A
|
rs751175344
|
|
|
NM_001005242.3(PKP2):c.365G>A (p.Arg122His)
|
rs201306582
|
|
|
NM_001005242.3(PKP2):c.365G>T (p.Arg122Leu)
|
rs201306582
|
|
|
NM_001005242.3(PKP2):c.367T>C (p.Trp123Arg)
|
rs1956956697
|
|
|
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter)
|
rs760576804
|
|
|
NM_001005242.3(PKP2):c.373A>G (p.Arg125Gly)
|
rs1565599588
|
|
|
NM_001005242.3(PKP2):c.377G>A (p.Gly126Glu)
|
rs2137951017
|
|
|
NM_001005242.3(PKP2):c.388T>C (p.Tyr130His)
|
|
|
|
NM_001005242.3(PKP2):c.390C>T (p.Tyr130=)
|
rs763303290
|
|
|
NM_001005242.3(PKP2):c.406G>A (p.Val136Met)
|
rs567795321
|
|
|
NM_001005242.3(PKP2):c.406G>T (p.Val136Leu)
|
rs567795321
|
|
|
NM_001005242.3(PKP2):c.411A>G (p.Glu137=)
|
rs1591829029
|
|
|
NM_001005242.3(PKP2):c.420C>T (p.Ser140=)
|
rs2389115
|
|
|
NM_001005242.3(PKP2):c.428_430dup (p.His143dup)
|
rs2137950571
|
|
|
NM_001005242.3(PKP2):c.454_456del (p.Pro152del)
|
rs1956955180
|
|
|
NM_001005242.3(PKP2):c.478C>T (p.His160Tyr)
|
rs1360804472
|
|
|
NM_001005242.3(PKP2):c.491G>A (p.Ser164Asn)
|
|
|
|
NM_001005242.3(PKP2):c.500A>G (p.Gln167Arg)
|
rs1956954474
|
|
|
NM_001005242.3(PKP2):c.504C>T (p.Tyr168=)
|
rs1057520930
|
|
|
NM_001005242.3(PKP2):c.51G>C (p.Leu17=)
|
rs1251253044
|
|
|
NM_001005242.3(PKP2):c.520G>T (p.Ala174Ser)
|
rs2137949857
|
|
|
NM_001005242.3(PKP2):c.523G>T (p.Gly175Trp)
|
rs2137949835
|
|
|
NM_001005242.3(PKP2):c.527A>G (p.His176Arg)
|
rs1380823797
|
|
|
NM_001005242.3(PKP2):c.529A>G (p.Thr177Ala)
|
rs1956954122
|
|
|
NM_001005242.3(PKP2):c.558C>A (p.Ala186=)
|
|
|
|
NM_001005242.3(PKP2):c.568G>A (p.Val190Met)
|
rs772384894
|
|
|
NM_001005242.3(PKP2):c.582T>G (p.Tyr194Ter)
|
rs532048791
|
|
|
NM_001005242.3(PKP2):c.584C>T (p.Ala195Val)
|
rs1041783952
|
|
|
NM_001005242.3(PKP2):c.586C>T (p.Arg196Cys)
|
rs748957791
|
|
|
NM_001005242.3(PKP2):c.592G>A (p.Glu198Lys)
|
rs1040585677
|
|
|
NM_001005242.3(PKP2):c.599T>C (p.Val200Ala)
|
rs1591828837
|
|
|
NM_001005242.3(PKP2):c.629G>A (p.Arg210Lys)
|
rs1555148132
|
|
|
NM_001005242.3(PKP2):c.655A>G (p.Arg219Gly)
|
rs1309098966
|
|
|
NM_001005242.3(PKP2):c.663C>T (p.Tyr221=)
|
rs767987619
|
|
|
NM_001005242.3(PKP2):c.717C>T (p.Ala239=)
|
rs143777637
|
|
|
NM_001005242.3(PKP2):c.746G>C (p.Ser249Thr)
|
|
|
|
NM_001005242.3(PKP2):c.746G>T (p.Ser249Ile)
|
rs1085307949
|
|
|
NM_001005242.3(PKP2):c.748C>A (p.Arg250Ser)
|
rs577631447
|
|
|
NM_001005242.3(PKP2):c.749G>A (p.Arg250His)
|
rs369332786
|
|
|
NM_001005242.3(PKP2):c.754A>G (p.Met252Val)
|
rs1956951277
|
|
|
NM_001005242.3(PKP2):c.758G>C (p.Gly253Ala)
|
rs1396012405
|
|
|
NM_001005242.3(PKP2):c.764T>A (p.Leu255His)
|
rs1956951118
|
|
|
NM_001005242.3(PKP2):c.771G>A (p.Glu257=)
|
rs1060504159
|
|
|
NM_001005242.3(PKP2):c.802G>T (p.Val268Phe)
|
rs746144782
|
|
|
NM_001005242.3(PKP2):c.811G>T (p.Val271Phe)
|
rs876657953
|
|
|
NM_001005242.3(PKP2):c.819G>T (p.Pro273=)
|
rs3748279
|
|
|
NM_001005242.3(PKP2):c.81C>T (p.Ser27=)
|
rs1384251523
|
|
|
NM_001005242.3(PKP2):c.848A>T (p.Asn283Ile)
|
rs2137947371
|
|
|
NM_001005242.3(PKP2):c.850A>G (p.Arg284Gly)
|
rs768451308
|
|
|
NM_001005242.3(PKP2):c.896G>A (p.Arg299His)
|
rs755425370
|
|
|
NM_001005242.3(PKP2):c.89T>A (p.Leu30Gln)
|
rs1957128191
|
|
|
NM_001005242.3(PKP2):c.901C>T (p.Leu301=)
|
rs1565599048
|
|
|
NM_001005242.3(PKP2):c.912T>C (p.Ala304=)
|
rs1591828546
|
|
|
NM_001005242.3(PKP2):c.916C>T (p.Pro306Ser)
|
rs1209340253
|
|
|
NM_001005242.3(PKP2):c.922G>T (p.Val308Phe)
|
rs1956947894
|
|
|
NM_001005242.3(PKP2):c.924C>T (p.Val308=)
|
rs1956947855
|
|
|
NM_001005242.3(PKP2):c.934T>C (p.Ser312Pro)
|
rs756604557
|
|
|
NM_001005242.3(PKP2):c.93G>A (p.Ala31=)
|
rs1957128135
|
|
|
NM_001005242.3(PKP2):c.940G>A (p.Gly314Arg)
|
rs551812289
|
|
|
NM_001005242.3(PKP2):c.954C>T (p.His318=)
|
|
|
|
NM_001005242.3(PKP2):c.964G>A (p.Gly322Ser)
|
rs200069860
|
|
|
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)
|
rs200069860
|
|
|
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs)
|
rs1555148035
|
|
|
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
|
|
|
|
NM_001005242.3(PKP2):c.969G>C (p.Gln323His)
|
rs879170191
|
|
|
NM_001005242.3(PKP2):c.971C>T (p.Ala324Val)
|
rs529523595
|
|
|
NM_001005242.3(PKP2):c.975C>A (p.Ala325=)
|
rs369921166
|
|
|
NM_001005242.3(PKP2):c.977C>A (p.Ala326Glu)
|
rs762949110
|
|
|
NM_001005242.3(PKP2):c.979G>T (p.Gly327Trp)
|
rs1956945922
|
|
|
NM_001005242.3(PKP2):c.980G>A (p.Gly327Glu)
|
rs759660796
|
|
|
NM_001005242.3(PKP2):c.980G>C (p.Gly327Ala)
|
rs759660796
|
|
|
NM_001005242.3(PKP2):c.980G>T (p.Gly327Val)
|
rs759660796
|
|
|
NM_001005242.3(PKP2):c.985A>T (p.Ser329Cys)
|
rs779173447
|
|
|
NM_001018004.2(TPM1):c.773-1143del
|
rs2036513615
|
|
|
NM_001018004.2(TPM1):c.773-1150T>G
|
rs2036513146
|
|
|
NM_001018004.2(TPM1):c.773-1167C>T
|
rs762673645
|
|
|
NM_001018004.2(TPM1):c.773-1206C>G
|
rs771167283
|
|
|
NM_001018004.2(TPM1):c.773-1225T>C
|
rs2036507718
|
|
|
NM_001018004.2(TPM1):c.773-8C>T
|
rs780444222
|
|
|
NM_001018005.2(TPM1):c.*5_*8del
|
rs786204415
|
|
|
NM_001018005.2(TPM1):c.-10C>T
|
|
|
|
NM_001018005.2(TPM1):c.-12G>A
|
|
|
|
NM_001018005.2(TPM1):c.-15C>G
|
|
|
|
NM_001018005.2(TPM1):c.-7C>T
|
|
|
|
NM_001018005.2(TPM1):c.100G>A (p.Asp34Asn)
|
|
|
|
NM_001018005.2(TPM1):c.103A>C (p.Arg35=)
|
|
|
|
NM_001018005.2(TPM1):c.104G>A (p.Arg35Lys)
|
rs730881152
|
|
|
NM_001018005.2(TPM1):c.112C>G (p.Gln38Glu)
|
rs1060501863
|
|
|
NM_001018005.2(TPM1):c.115-192C>T
|
rs2031774217
|
|
|
NM_001018005.2(TPM1):c.115-193A>C
|
rs2031773224
|
|
|
NM_001018005.2(TPM1):c.115-213_115-211delinsTT
|
rs2031765937
|
|
|
NM_001018005.2(TPM1):c.115-214_115-211delinsT
|
rs2031763851
|
|
|
NM_001018005.2(TPM1):c.115-227G>A
|
rs2031757347
|
|
|
NM_001018005.2(TPM1):c.115-266G>A
|
rs1030977106
|
|
|
NM_001018005.2(TPM1):c.115-268G>C
|
rs2031744138
|
|
|
NM_001018005.2(TPM1):c.115-277G>A
|
rs1312883932
|
|
|
NM_001018005.2(TPM1):c.115-331C>G
|
rs562829514
|
|
|
NM_001018005.2(TPM1):c.126G>A (p.Glu42=)
|
rs2031852609
|
|
|
NM_001018005.2(TPM1):c.144G>A (p.Lys48=)
|
rs1555403374
|
|
|
NM_001018005.2(TPM1):c.150C>A (p.Leu50=)
|
rs2140627934
|
|
|
NM_001018005.2(TPM1):c.152A>C (p.Lys51Thr)
|
rs1566937728
|
|
|
NM_001018005.2(TPM1):c.154G>A (p.Gly52Ser)
|
rs730881127
|
|
|
NM_001018005.2(TPM1):c.164A>G (p.Asp55Gly)
|
rs1566937759
|
|
|
NM_001018005.2(TPM1):c.182C>G (p.Ser61Cys)
|
rs2031863455
|
|
|
NM_001018005.2(TPM1):c.185A>G (p.Glu62Gly)
|
rs2031864718
|
|
|
NM_001018005.2(TPM1):c.196G>C (p.Asp66His)
|
rs2031866819
|
|
|
NM_001018005.2(TPM1):c.204G>A (p.Gln68=)
|
rs2140629119
|
|
|
NM_001018005.2(TPM1):c.207G>T (p.Glu69Asp)
|
|
|
|
NM_001018005.2(TPM1):c.20_26dup (p.Met10fs)
|
rs2031422919
|
|
|
NM_001018005.2(TPM1):c.234C>A (p.Ala78=)
|
rs2031872905
|
|
|
NM_001018005.2(TPM1):c.240+4545T>C
|
rs1566944111
|
|
|
NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu)
|
rs369617788
|
|
|
NM_001018005.2(TPM1):c.253G>A (p.Val85Ile)
|
rs730881156
|
|
|
NM_001018005.2(TPM1):c.264G>A (p.Leu88=)
|
rs779411131
|
|
|
NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys)
|
rs1266444831
|
|
|
NM_001018005.2(TPM1):c.294G>A (p.Glu98=)
|
rs747206706
|
|
|
NM_001018005.2(TPM1):c.301C>G (p.Arg101Gly)
|
rs769069020
|
|
|
NM_001018005.2(TPM1):c.312G>A (p.Glu104=)
|
|
|
|
NM_001018005.2(TPM1):c.319G>C (p.Ala107Pro)
|
|
|
|
NM_001018005.2(TPM1):c.327T>G (p.Ala109=)
|
rs2140908643
|
|
|
NM_001018005.2(TPM1):c.34A>T (p.Lys12Ter)
|
rs2031426015
|
|
|
NM_001018005.2(TPM1):c.375-11T>A
|
rs2140936883
|
|
|
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr)
|
rs727503517
|
|
|
NM_001018005.2(TPM1):c.408A>C (p.Lys136Asn)
|
rs1596372037
|
|
|
NM_001018005.2(TPM1):c.45G>A (p.Lys15=)
|
rs199476301
|
|
|
NM_001018005.2(TPM1):c.48G>A (p.Glu16=)
|
|
|
|
NM_001018005.2(TPM1):c.562G>A (p.Gly188Ser)
|
rs2035531508
|
|
|
NM_001018005.2(TPM1):c.563+244del
|
rs2035572042
|
|
|
NM_001018005.2(TPM1):c.563+266C>T
|
rs201813515
|
|
|
NM_001018005.2(TPM1):c.563+284T>C
|
rs1566964956
|
|
|
NM_001018005.2(TPM1):c.563+332A>G
|
rs1566965048
|
|
|
NM_001018005.2(TPM1):c.563+337A>C
|
rs2035582536
|
|
|
NM_001018005.2(TPM1):c.563+6C>G
|
rs397516378
|
|
|
NM_001018005.2(TPM1):c.564-12C>G
|
rs113591254
|
|
|
NM_001018005.2(TPM1):c.572_573delinsTT (p.Ala191Val)
|
rs730881154
|
|
|
NM_001018005.2(TPM1):c.585A>G (p.Glu195=)
|
rs3218717
|
|
|
NM_001018005.2(TPM1):c.586G>T (p.Glu196Ter)
|
rs1131003
|
|
|
NM_001018005.2(TPM1):c.589T>C (p.Leu197=)
|
rs2140963629
|
|
|
NM_001018005.2(TPM1):c.591G>A (p.Leu197=)
|
rs2140963657
|
|
|
NM_001018005.2(TPM1):c.598_610del (p.Thr199_Val200insTer)
|
rs2035664302
|
|
|
NM_001018005.2(TPM1):c.617C>G (p.Ser206Ter)
|
rs2140964158
|
|
|
NM_001018005.2(TPM1):c.627T>G (p.Ala209=)
|
rs769210513
|
|
|
NM_001018005.2(TPM1):c.629A>G (p.Gln210Arg)
|
rs777139450
|
|
|
NM_001018005.2(TPM1):c.635A>T (p.Glu212Val)
|
rs769951937
|
|
|
NM_001018005.2(TPM1):c.639+3A>C
|
rs2140964607
|
|
|
NM_001018005.2(TPM1):c.640-14C>G
|
rs781638696
|
|
|
NM_001018005.2(TPM1):c.640-14C>T
|
rs781638696
|
|
|
NM_001018005.2(TPM1):c.65C>G (p.Ala22Gly)
|
rs2031431973
|
|
|
NM_001018005.2(TPM1):c.660A>G (p.Arg220=)
|
rs2035732196
|
|
|
NM_001018005.2(TPM1):c.666G>A (p.Glu222=)
|
rs2035732887
|
|
|
NM_001018005.2(TPM1):c.681_682delinsAG (p.Leu228Val)
|
rs2140969876
|
|
|
NM_001018005.2(TPM1):c.703-12A>T
|
rs2035786278
|
|
|
NM_001018005.2(TPM1):c.703-15A>G
|
rs962090195
|
|
|
NM_001018005.2(TPM1):c.703-8C>G
|
rs2035786670
|
|
|
NM_001018005.2(TPM1):c.703G>A (p.Ala235Thr)
|
rs2035787414
|
|
|
NM_001018005.2(TPM1):c.75G>A (p.Ala25=)
|
rs1214191576
|
|
|
NM_001018005.2(TPM1):c.75G>T (p.Ala25=)
|
rs1214191576
|
|
|
NM_001018005.2(TPM1):c.773-6T>A
|
rs374049254
|
|
|
NM_001018005.2(TPM1):c.79G>A (p.Ala27Thr)
|
|
|
|
NM_001018005.2(TPM1):c.842T>G (p.Met281Arg)
|
rs199476321
|
|
|
NM_001018005.2(TPM1):c.851+5dup
|
rs2036008903
|
|
|
NM_001018005.2(TPM1):c.851+6C>A
|
rs375043184
|
|
|
NM_001018005.2(TPM1):c.852-12A>G
|
rs1414878944
|
|
|
NM_001018005.2(TPM1):c.852-12A>T
|
|
|
|
NM_001018005.2(TPM1):c.852A>T (p.Ile284=)
|
rs759481997
|
|
|
NM_001018005.2(TPM1):c.94G>T (p.Ala32Ser)
|
rs2140596321
|
|
|
NM_001018005.2(TPM1):c.95C>T (p.Ala32Val)
|
|
|
|
NM_001035.3(RYR2):c.-13G>A
|
|
|
|
NM_001035.3(RYR2):c.-1C>T
|
rs1660032119
|
|
|
NM_001035.3(RYR2):c.-2C>A
|
rs1660031883
|
|
|
NM_001035.3(RYR2):c.-7C>A
|
rs1660031623
|
|
|
NM_001035.3(RYR2):c.10035G>C (p.Arg3345Ser)
|
rs754976419
|
|
|
NM_001035.3(RYR2):c.10036G>C (p.Gly3346Arg)
|
rs1488791858
|
|
|
NM_001035.3(RYR2):c.10042A>G (p.Met3348Val)
|
rs2149067182
|
|
|
NM_001035.3(RYR2):c.10062C>T (p.Leu3354=)
|
rs931521804
|
|
|
NM_001035.3(RYR2):c.10069G>C (p.Asp3357His)
|
rs1688606545
|
|
|
NM_001035.3(RYR2):c.10142+1G>T
|
rs1688613586
|
|
|
NM_001035.3(RYR2):c.10146A>C (p.Ala3382=)
|
rs773965844
|
|
|
NM_001035.3(RYR2):c.10152G>T (p.Trp3384Cys)
|
rs1232214660
|
|
|
NM_001035.3(RYR2):c.10190G>A (p.Arg3397His)
|
rs753630324
|
|
|
NM_001035.3(RYR2):c.10190G>T (p.Arg3397Leu)
|
rs753630324
|
|
|
NM_001035.3(RYR2):c.10201G>A (p.Glu3401Lys)
|
rs2149069897
|
|
|
NM_001035.3(RYR2):c.10211T>G (p.Ile3404Ser)
|
rs2149069956
|
|
|
NM_001035.3(RYR2):c.10212C>T (p.Ile3404=)
|
rs2149069969
|
|
|
NM_001035.3(RYR2):c.10231-11C>T
|
rs1688861182
|
|
|
NM_001035.3(RYR2):c.10283T>G (p.Met3428Arg)
|
rs2149079618
|
|
|
NM_001035.3(RYR2):c.102G>A (p.Lys34=)
|
rs1689577197
|
|
|
NM_001035.3(RYR2):c.10314G>T (p.Lys3438Asn)
|
rs2149079692
|
|
|
NM_001035.3(RYR2):c.10324-14T>C
|
rs1689335320
|
|
|
NM_001035.3(RYR2):c.10324-5C>T
|
|
|
|
NM_001035.3(RYR2):c.10324-9G>A
|
rs1238809463
|
|
|
NM_001035.3(RYR2):c.10324-9G>T
|
|
|
|
NM_001035.3(RYR2):c.10350G>A (p.Lys3450=)
|
|
|
|
NM_001035.3(RYR2):c.10364A>G (p.Lys3455Arg)
|
rs1573649552
|
|
|
NM_001035.3(RYR2):c.10371T>C (p.Asp3457=)
|
rs1356832540
|
|
|
NM_001035.3(RYR2):c.10378dup (p.Ser3460fs)
|
rs1689341818
|
|
|
NM_001035.3(RYR2):c.10382T>C (p.Met3461Thr)
|
rs1689342753
|
|
|
NM_001035.3(RYR2):c.10392T>G (p.Ser3464=)
|
|
|
|
NM_001035.3(RYR2):c.10401A>G (p.Val3467=)
|
rs1689343680
|
|
|
NM_001035.3(RYR2):c.10412A>T (p.Lys3471Met)
|
rs1689344558
|
|
|
NM_001035.3(RYR2):c.10413G>A (p.Lys3471=)
|
|
|
|
NM_001035.3(RYR2):c.10446C>T (p.Ala3482=)
|
rs746150182
|
|
|
NM_001035.3(RYR2):c.10468G>T (p.Ala3490Ser)
|
rs1321141557
|
|
|
NM_001035.3(RYR2):c.10490G>A (p.Ser3497Asn)
|
rs1689350944
|
|
|
NM_001035.3(RYR2):c.1049G>A (p.Gly350Glu)
|
rs1707881822
|
|
|
NM_001035.3(RYR2):c.10501_10503delinsGCT (p.Thr3501Ala)
|
rs2149105212
|
|
|
NM_001035.3(RYR2):c.10509T>C (p.Asp3503=)
|
rs2149105274
|
|
|
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser)
|
rs201749277
|
|
|
NM_001035.3(RYR2):c.10528C>T (p.Arg3510Cys)
|
rs201749277
|
|
|
NM_001035.3(RYR2):c.10545A>G (p.Leu3515=)
|
rs1246758548
|
|
|
NM_001035.3(RYR2):c.10549G>A (p.Gly3517Ser)
|
rs1689447350
|
|
|
NM_001035.3(RYR2):c.10550G>T (p.Gly3517Val)
|
rs1689447516
|
|
|
NM_001035.3(RYR2):c.10555-5T>G
|
rs2149125350
|
|
|
NM_001035.3(RYR2):c.10555-8T>C
|
rs1689889893
|
|
|
NM_001035.3(RYR2):c.10589T>C (p.Leu3530Pro)
|
rs2149125524
|
|
|
NM_001035.3(RYR2):c.10603C>T (p.Pro3535Ser)
|
rs2149125570
|
|
|
NM_001035.3(RYR2):c.10605A>T (p.Pro3535=)
|
rs773285341
|
|
|
NM_001035.3(RYR2):c.10611G>A (p.Arg3537=)
|
|
|
|
NM_001035.3(RYR2):c.10631C>G (p.Pro3544Arg)
|
rs752032924
|
|
|
NM_001035.3(RYR2):c.10631C>T (p.Pro3544Leu)
|
rs752032924
|
|
|
NM_001035.3(RYR2):c.10648A>G (p.Arg3550Gly)
|
rs1553300589
|
|
|
NM_001035.3(RYR2):c.10655T>A (p.Leu3552Ter)
|
|
|
|
NM_001035.3(RYR2):c.10655T>C (p.Leu3552Ser)
|
|
|
|
NM_001035.3(RYR2):c.10661T>C (p.Ile3554Thr)
|
rs1364277722
|
|
|
NM_001035.3(RYR2):c.10662A>G (p.Ile3554Met)
|
rs1558290857
|
|
|
NM_001035.3(RYR2):c.10663G>A (p.Ala3555Thr)
|
rs1689900582
|
|
|
NM_001035.3(RYR2):c.10665A>T (p.Ala3555=)
|
rs764666057
|
|
|
NM_001035.3(RYR2):c.10679A>T (p.His3560Leu)
|
|
|
|
NM_001035.3(RYR2):c.10681C>T (p.Leu3561Phe)
|
rs1022428392
|
|
|
NM_001035.3(RYR2):c.10690-4T>A
|
rs1219349222
|
|
|
NM_001035.3(RYR2):c.10693T>C (p.Ser3565Pro)
|
|
|
|
NM_001035.3(RYR2):c.10695T>G (p.Ser3565=)
|
rs2149138644
|
|
|
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)
|
rs1401116572
|
|
|
NM_001035.3(RYR2):c.10703del (p.Val3568fs)
|
rs1690189277
|
|
|
NM_001035.3(RYR2):c.10704G>A (p.Val3568=)
|
rs1000043466
|
|
|
NM_001035.3(RYR2):c.10725G>A (p.Leu3575=)
|
rs1690191748
|
|
|
NM_001035.3(RYR2):c.10746T>C (p.Ser3582=)
|
rs767479069
|
|
|
NM_001035.3(RYR2):c.10770A>G (p.Leu3590=)
|
rs903446046
|
|
|
NM_001035.3(RYR2):c.10792G>A (p.Ala3598Thr)
|
rs1690267868
|
|
|
NM_001035.3(RYR2):c.10799T>C (p.Val3600Ala)
|
|
|
|
NM_001035.3(RYR2):c.1080A>G (p.Val360=)
|
rs1033651844
|
|
|
NM_001035.3(RYR2):c.10818C>T (p.Ala3606=)
|
rs1558298221
|
|
|
NM_001035.3(RYR2):c.10838+3C>T
|
rs1417807379
|
|
|
NM_001035.3(RYR2):c.10839-8C>T
|
rs2149159271
|
|
|
NM_001035.3(RYR2):c.10846G>T (p.Ala3616Ser)
|
|
|
|
NM_001035.3(RYR2):c.10853A>G (p.Asn3618Ser)
|
rs1690559112
|
|
|
NM_001035.3(RYR2):c.10893A>T (p.Thr3631=)
|
rs1207013704
|
|
|
NM_001035.3(RYR2):c.10894GAA[1] (p.Glu3633del)
|
rs1690562656
|
|
|
NM_001035.3(RYR2):c.108C>T (p.Cys36=)
|
rs1322583844
|
|
|
NM_001035.3(RYR2):c.10904A>G (p.Tyr3635Cys)
|
rs886044331
|
|
|
NM_001035.3(RYR2):c.10914T>G (p.Asp3638Glu)
|
rs1690563932
|
|
|
NM_001035.3(RYR2):c.10922T>C (p.Ile3641Thr)
|
rs1060500145
|
|
|
NM_001035.3(RYR2):c.10932A>G (p.Leu3644=)
|
rs1210528805
|
|
|
NM_001035.3(RYR2):c.10933G>A (p.Ala3645Thr)
|
rs1558304228
|
|
|
NM_001035.3(RYR2):c.10936-15T>A
|
rs372569768
|
|
|
NM_001035.3(RYR2):c.10936-2A>G
|
|
|
|
NM_001035.3(RYR2):c.10936-5del
|
rs1319687644
|
|
|
NM_001035.3(RYR2):c.10940C>T (p.Pro3647Leu)
|
rs776678165
|
|
|
NM_001035.3(RYR2):c.10943G>T (p.Gly3648Val)
|
rs528573895
|
|
|
NM_001035.3(RYR2):c.10952C>A (p.Pro3651His)
|
|
|
|
NM_001035.3(RYR2):c.10969G>A (p.Gly3657Ser)
|
rs1476256919
|
|
|
NM_001035.3(RYR2):c.10972A>C (p.Thr3658Pro)
|
rs763304030
|
|
|
NM_001035.3(RYR2):c.10974T>C (p.Thr3658=)
|
rs2149168019
|
|
|
NM_001035.3(RYR2):c.10984G>C (p.Asp3662His)
|
|
|
|
NM_001035.3(RYR2):c.10987C>G (p.Pro3663Ala)
|
rs1299197961
|
|
|
NM_001035.3(RYR2):c.10993C>T (p.His3665Tyr)
|
rs1374577335
|
|
|
NM_001035.3(RYR2):c.11002A>G (p.Ile3668Val)
|
rs1558307580
|
|
|
NM_001035.3(RYR2):c.11018G>T (p.Arg3673Leu)
|
rs778111237
|
|
|
NM_001035.3(RYR2):c.11039+4del
|
|
|
|
NM_001035.3(RYR2):c.11039+6G>A
|
rs779549361
|
|
|
NM_001035.3(RYR2):c.1108C>T (p.Leu370=)
|
rs534621173
|
|
|
NM_001035.3(RYR2):c.11092-4A>G
|
|
|
|
NM_001035.3(RYR2):c.11092-5T>C
|
rs1322016202
|
|
|
NM_001035.3(RYR2):c.110T>C (p.Leu37Ser)
|
rs1689578487
|
|
|
NM_001035.3(RYR2):c.11100T>C (p.His3700=)
|
|
|
|
NM_001035.3(RYR2):c.11106G>T (p.Glu3702Asp)
|
rs2149211394
|
|
|
NM_001035.3(RYR2):c.11120G>A (p.Gly3707Asp)
|
rs755613281
|
|
|
NM_001035.3(RYR2):c.11136G>A (p.Lys3712=)
|
rs1691688586
|
|
|
NM_001035.3(RYR2):c.11145+4A>G
|
|
|
|
NM_001035.3(RYR2):c.11146-12A>C
|
rs1692946196
|
|
|
NM_001035.3(RYR2):c.11146-8G>A
|
rs1425021300
|
|
|
NM_001035.3(RYR2):c.11181G>T (p.Gln3727His)
|
rs773884612
|
|
|
NM_001035.3(RYR2):c.11189G>A (p.Arg3730Gln)
|
rs1060500157
|
|
|
NM_001035.3(RYR2):c.11193C>G (p.Leu3731=)
|
|
|
|
NM_001035.3(RYR2):c.11197G>A (p.Asp3733Asn)
|
rs760307737
|
|
|
NM_001035.3(RYR2):c.1119T>A (p.Thr373=)
|
rs202231354
|
|
|
NM_001035.3(RYR2):c.11202T>A (p.Arg3734=)
|
rs763792914
|
|
|
NM_001035.3(RYR2):c.11202T>G (p.Arg3734=)
|
rs763792914
|
|
|
NM_001035.3(RYR2):c.11210C>G (p.Ala3737Gly)
|
rs1458694641
|
|
|
NM_001035.3(RYR2):c.1122C>T (p.Tyr374=)
|
rs757201844
|
|
|
NM_001035.3(RYR2):c.11242A>G (p.Lys3748Glu)
|
rs1692955012
|
|
|
NM_001035.3(RYR2):c.11288T>C (p.Ile3763Thr)
|
rs1693078772
|
|
|
NM_001035.3(RYR2):c.112G>A (p.Ala38Thr)
|
rs747977592
|
|
|
NM_001035.3(RYR2):c.11322G>A (p.Gln3774=)
|
|
|
|
NM_001035.3(RYR2):c.11352A>G (p.Lys3784=)
|
rs992332856
|
|
|
NM_001035.3(RYR2):c.11358T>C (p.Asp3786=)
|
rs908734025
|
|
|
NM_001035.3(RYR2):c.11362G>A (p.Gly3788Ser)
|
rs775471018
|
|
|
NM_001035.3(RYR2):c.11376C>G (p.Ser3792Arg)
|
|
|
|
NM_001035.3(RYR2):c.11377C>T (p.Leu3793=)
|
rs1693267622
|
|
|
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser)
|
rs397516504
|
|
|
NM_001035.3(RYR2):c.11399G>T (p.Cys3800Phe)
|
rs1239093704
|
|
|
NM_001035.3(RYR2):c.11403-10_11403-8del
|
rs2149276934
|
|
|
NM_001035.3(RYR2):c.11403-11T>C
|
rs2149276943
|
|
|
NM_001035.3(RYR2):c.11403-15C>T
|
rs1441024017
|
|
|
NM_001035.3(RYR2):c.11427G>A (p.Glu3809=)
|
rs553350678
|
|
|
NM_001035.3(RYR2):c.11440G>A (p.Ala3814Thr)
|
rs1693387167
|
|
|
NM_001035.3(RYR2):c.11477-8del
|
rs1694208486
|
|
|
NM_001035.3(RYR2):c.11491C>T (p.Gln3831Ter)
|
rs2149310533
|
|
|
NM_001035.3(RYR2):c.11499T>C (p.Asp3833=)
|
|
|
|
NM_001035.3(RYR2):c.11503T>C (p.Phe3835Leu)
|
rs1694211408
|
|
|
NM_001035.3(RYR2):c.1152G>A (p.Met384Ile)
|
rs1707894967
|
|
|
NM_001035.3(RYR2):c.11533C>T (p.Leu3845=)
|
rs1694213736
|
|
|
NM_001035.3(RYR2):c.11557+6T>A
|
rs2149310783
|
|
|
NM_001035.3(RYR2):c.11558-13T>G
|
rs1694310385
|
|
|
NM_001035.3(RYR2):c.11643T>G (p.Val3881=)
|
rs1558381908
|
|
|
NM_001035.3(RYR2):c.11646+1G>T
|
rs2149314836
|
|
|
NM_001035.3(RYR2):c.11674T>A (p.Tyr3892Asn)
|
rs1694429616
|
|
|
NM_001035.3(RYR2):c.11676C>T (p.Tyr3892=)
|
rs1168445245
|
|
|
NM_001035.3(RYR2):c.1171-9T>G
|
rs1708240912
|
|
|
NM_001035.3(RYR2):c.11711G>A (p.Arg3904Gln)
|
|
|
|
NM_001035.3(RYR2):c.11737G>T (p.Ala3913Ser)
|
rs1212225668
|
|
|
NM_001035.3(RYR2):c.11757T>C (p.Thr3919=)
|
rs1694434380
|
|
|
NM_001035.3(RYR2):c.11763A>G (p.Thr3921=)
|
rs1694434725
|
|
|
NM_001035.3(RYR2):c.11769T>C (p.Tyr3923=)
|
rs1694435121
|
|
|
NM_001035.3(RYR2):c.1177A>G (p.Met393Val)
|
rs2150165985
|
|
|
NM_001035.3(RYR2):c.11786C>T (p.Thr3929Ile)
|
rs1694858606
|
|
|
NM_001035.3(RYR2):c.11803T>C (p.Leu3935=)
|
rs1694859357
|
|
|
NM_001035.3(RYR2):c.11822G>C (p.Trp3941Ser)
|
rs1694860715
|
|
|
NM_001035.3(RYR2):c.11872C>T (p.Leu3958=)
|
rs1694863165
|
|
|
NM_001035.3(RYR2):c.11877G>T (p.Ser3959=)
|
rs754610647
|
|
|
NM_001035.3(RYR2):c.11880+4AACT[2]
|
rs773240729
|
|
|
NM_001035.3(RYR2):c.11880+4AACT[4]
|
rs773240729
|
|
|
NM_001035.3(RYR2):c.11881-10A>C
|
rs1573922749
|
|
|
NM_001035.3(RYR2):c.11881-11C>T
|
rs1695112545
|
|
|
NM_001035.3(RYR2):c.11881-6T>C
|
rs746099317
|
|
|
NM_001035.3(RYR2):c.11904A>G (p.Leu3968=)
|
rs2149344847
|
|
|
NM_001035.3(RYR2):c.11911T>C (p.Leu3971=)
|
rs1393069119
|
|
|
NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu)
|
rs370103782
|
|
|
NM_001035.3(RYR2):c.11933T>A (p.Met3978Lys)
|
rs1695116818
|
|
|
NM_001035.3(RYR2):c.1194C>T (p.His398=)
|
rs794728816
|
|
|
NM_001035.3(RYR2):c.11962+4_11962+6dup
|
rs1695119532
|
|
|
NM_001035.3(RYR2):c.11962+9_11962+13dup
|
rs764190942
|
|
|
NM_001035.3(RYR2):c.11963-11T>G
|
rs790889
|
|
|
NM_001035.3(RYR2):c.11964T>A (p.Gly3988=)
|
|
|
|
NM_001035.3(RYR2):c.11G>T (p.Gly4Val)
|
rs866878858
|
|
|
NM_001035.3(RYR2):c.12021C>T (p.Ser4007=)
|
|
|
|
NM_001035.3(RYR2):c.12072G>A (p.Lys4024=)
|
rs1695319621
|
|
|
NM_001035.3(RYR2):c.12077T>G (p.Leu4026Trp)
|
rs750259830
|
|
|
NM_001035.3(RYR2):c.12080C>T (p.Thr4027Met)
|
|
|
|
NM_001035.3(RYR2):c.12081G>A (p.Thr4027=)
|
rs1695321287
|
|
|
NM_001035.3(RYR2):c.12106G>A (p.Asp4036Asn)
|
rs748216455
|
|
|
NM_001035.3(RYR2):c.12108C>T (p.Asp4036=)
|
rs1695323785
|
|
|
NM_001035.3(RYR2):c.12116G>T (p.Gly4039Val)
|
rs749706996
|
|
|
NM_001035.3(RYR2):c.12141C>T (p.Asp4047=)
|
rs1232796204
|
|
|
NM_001035.3(RYR2):c.12147C>T (p.His4049=)
|
rs1695327449
|
|
|
NM_001035.3(RYR2):c.12168G>T (p.Lys4056Asn)
|
rs1573932788
|
|
|
NM_001035.3(RYR2):c.12171C>G (p.His4057Gln)
|
rs1558404274
|
|
|
NM_001035.3(RYR2):c.12176C>T (p.Thr4059Met)
|
|
|
|
NM_001035.3(RYR2):c.12177G>A (p.Thr4059=)
|
rs1311120147
|
|
|
NM_001035.3(RYR2):c.1218G>C (p.Ser406=)
|
rs147389346
|
|
|
NM_001035.3(RYR2):c.1219A>C (p.Arg407=)
|
rs1382123934
|
|
|
NM_001035.3(RYR2):c.12213G>A (p.Glu4071=)
|
rs1695334113
|
|
|
NM_001035.3(RYR2):c.12219T>C (p.Asp4073=)
|
rs1442422047
|
|
|
NM_001035.3(RYR2):c.12231C>T (p.Thr4077=)
|
rs1325431679
|
|
|
NM_001035.3(RYR2):c.12235G>T (p.Asp4079Tyr)
|
rs868071612
|
|
|
NM_001035.3(RYR2):c.12247T>C (p.Phe4083Leu)
|
rs1695338910
|
|
|
NM_001035.3(RYR2):c.12249C>A (p.Phe4083Leu)
|
rs371599450
|
|
|
NM_001035.3(RYR2):c.12249C>T (p.Phe4083=)
|
rs371599450
|
|
|
NM_001035.3(RYR2):c.12250G>A (p.Val4084Ile)
|
rs1695339297
|
|
|
NM_001035.3(RYR2):c.12258C>T (p.Arg4086=)
|
rs2149353086
|
|
|
NM_001035.3(RYR2):c.12264C>T (p.His4088=)
|
rs1558404698
|
|
|
NM_001035.3(RYR2):c.12266A>C (p.Glu4089Ala)
|
|
|
|
NM_001035.3(RYR2):c.12294C>T (p.Val4098=)
|
rs574742279
|
|
|
NM_001035.3(RYR2):c.12327G>T (p.Met4109Ile)
|
|
|
|
NM_001035.3(RYR2):c.12373G>A (p.Val4125Ile)
|
rs775417996
|
|
|
NM_001035.3(RYR2):c.12375C>G (p.Val4125=)
|
rs1434635546
|
|
|
NM_001035.3(RYR2):c.12377T>G (p.Leu4126Arg)
|
rs1695352124
|
|
|
NM_001035.3(RYR2):c.12378G>A (p.Leu4126=)
|
|
|
|
NM_001035.3(RYR2):c.12378G>C (p.Leu4126=)
|
rs1040201228
|
|
|
NM_001035.3(RYR2):c.12392C>T (p.Pro4131Leu)
|
rs1695353131
|
|
|
NM_001035.3(RYR2):c.12415A>G (p.Met4139Val)
|
rs1199657338
|
|
|
NM_001035.3(RYR2):c.12416T>C (p.Met4139Thr)
|
|
|
|
NM_001035.3(RYR2):c.1243A>G (p.Thr415Ala)
|
rs545357663
|
|
|
NM_001035.3(RYR2):c.12469C>A (p.Arg4157=)
|
rs1247580708
|
|
|
NM_001035.3(RYR2):c.12481G>A (p.Glu4161Lys)
|
|
|
|
NM_001035.3(RYR2):c.12510A>T (p.Arg4170Ser)
|
rs1695363889
|
|
|
NM_001035.3(RYR2):c.12525C>T (p.Asp4175=)
|
rs1347472531
|
|
|
NM_001035.3(RYR2):c.12526G>A (p.Val4176Met)
|
rs794728828
|
|
|
NM_001035.3(RYR2):c.12548A>T (p.Lys4183Ile)
|
rs1695367132
|
|
|
NM_001035.3(RYR2):c.12572dup (p.Asn4191fs)
|
|
|
|
NM_001035.3(RYR2):c.12589A>G (p.Ile4197Val)
|
rs765238394
|
|
|
NM_001035.3(RYR2):c.125T>G (p.Phe42Cys)
|
rs1689580158
|
|
|
NM_001035.3(RYR2):c.12609G>A (p.Ala4203=)
|
rs372943408
|
|
|
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=)
|
rs372943408
|
|
|
NM_001035.3(RYR2):c.12612T>C (p.Ala4204=)
|
|
|
|
NM_001035.3(RYR2):c.12624G>A (p.Glu4208=)
|
rs1695373170
|
|
|
NM_001035.3(RYR2):c.12636C>A (p.Asn4212Lys)
|
|
|
|
NM_001035.3(RYR2):c.12637G>A (p.Glu4213Lys)
|
rs1695373966
|
|
|
NM_001035.3(RYR2):c.1264A>G (p.Thr422Ala)
|
rs1350054663
|
|
|
NM_001035.3(RYR2):c.12655G>A (p.Glu4219Lys)
|
rs1417926762
|
|
|
NM_001035.3(RYR2):c.12663C>G (p.Ser4221Arg)
|
rs370297602
|
|
|
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)
|
rs794728838
|
|
|
NM_001035.3(RYR2):c.12672G>C (p.Glu4224Asp)
|
rs746898186
|
|
|
NM_001035.3(RYR2):c.12676C>T (p.Pro4226Ser)
|
rs1293881648
|
|
|
NM_001035.3(RYR2):c.12678G>A (p.Pro4226=)
|
|
|
|
NM_001035.3(RYR2):c.12678G>T (p.Pro4226=)
|
rs768348987
|
|
|
NM_001035.3(RYR2):c.1272C>T (p.Phe424=)
|
rs767394797
|
|
|
NM_001035.3(RYR2):c.12745A>T (p.Arg4249Trp)
|
rs1695385129
|
|
|
NM_001035.3(RYR2):c.12747G>A (p.Arg4249=)
|
rs1695385545
|
|
|
NM_001035.3(RYR2):c.12751A>G (p.Asn4251Asp)
|
rs764955292
|
|
|
NM_001035.3(RYR2):c.12767T>G (p.Met4256Arg)
|
rs530277653
|
|
|
NM_001035.3(RYR2):c.12778A>G (p.Ser4260Gly)
|
rs1416980159
|
|
|
NM_001035.3(RYR2):c.12780T>C (p.Ser4260=)
|
|
|
|
NM_001035.3(RYR2):c.12792G>A (p.Leu4264=)
|
rs749454470
|
|
|
NM_001035.3(RYR2):c.12795G>A (p.Lys4265=)
|
rs1695389411
|
|
|
NM_001035.3(RYR2):c.1280A>G (p.Asn427Ser)
|
rs753007912
|
|
|
NM_001035.3(RYR2):c.1281T>C (p.Asn427=)
|
rs375691875
|
|
|
NM_001035.3(RYR2):c.12826G>T (p.Val4276Leu)
|
rs368599791
|
|
|
NM_001035.3(RYR2):c.12840C>A (p.Val4280=)
|
rs1695393350
|
|
|
NM_001035.3(RYR2):c.12846CTT[1] (p.Phe4284del)
|
rs1695394603
|
|
|
NM_001035.3(RYR2):c.12875T>C (p.Met4292Thr)
|
rs1695396981
|
|
|
NM_001035.3(RYR2):c.12876G>T (p.Met4292Ile)
|
rs1434067914
|
|
|
NM_001035.3(RYR2):c.12893T>C (p.Val4298Ala)
|
rs984942880
|
|
|
NM_001035.3(RYR2):c.12899G>A (p.Ser4300Asn)
|
rs998814994
|
|
|
NM_001035.3(RYR2):c.12901G>A (p.Val4301Ile)
|
rs772007722
|
|
|
NM_001035.3(RYR2):c.12922A>T (p.Ile4308Phe)
|
|
|
|
NM_001035.3(RYR2):c.12929G>C (p.Cys4310Ser)
|
rs1695402383
|
|
|
NM_001035.3(RYR2):c.1293-14A>G
|
rs752527636
|
|
|
NM_001035.3(RYR2):c.1293-14A>T
|
rs752527636
|
|
|
NM_001035.3(RYR2):c.1293-6T>C
|
rs756239888
|
|
|
NM_001035.3(RYR2):c.12931A>C (p.Ser4311Arg)
|
rs2149355805
|
|
|
NM_001035.3(RYR2):c.1293G>A (p.Arg431=)
|
rs1658550441
|
|
|
NM_001035.3(RYR2):c.12975C>T (p.Ile4325=)
|
rs1323310654
|
|
|
NM_001035.3(RYR2):c.12990G>T (p.Leu4330=)
|
rs1558407591
|
|
|
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp)
|
rs371680410
|
|
|
NM_001035.3(RYR2):c.13003C>A (p.Pro4335Thr)
|
rs768583251
|
|
|
NM_001035.3(RYR2):c.1300G>A (p.Asp434Asn)
|
rs1658551806
|
|
|
NM_001035.3(RYR2):c.1302T>G (p.Asp434Glu)
|
rs2150216792
|
|
|
NM_001035.3(RYR2):c.13034A>T (p.Asp4345Val)
|
rs1695410103
|
|
|
NM_001035.3(RYR2):c.13035T>C (p.Asp4345=)
|
rs746030676
|
|
|
NM_001035.3(RYR2):c.13044G>T (p.Glu4348Asp)
|
rs559197657
|
|
|
NM_001035.3(RYR2):c.13046G>A (p.Gly4349Glu)
|
rs1695410973
|
|
|
NM_001035.3(RYR2):c.13049A>G (p.Glu4350Gly)
|
|
|
|
NM_001035.3(RYR2):c.13065A>G (p.Glu4355=)
|
rs1695412040
|
|
|
NM_001035.3(RYR2):c.13067C>T (p.Ala4356Val)
|
rs981875785
|
|
|
NM_001035.3(RYR2):c.13077C>T (p.Pro4359=)
|
rs1695413897
|
|
|
NM_001035.3(RYR2):c.13078T>C (p.Ser4360Pro)
|
rs1420181587
|
|
|
NM_001035.3(RYR2):c.13078T>G (p.Ser4360Ala)
|
rs1420181587
|
|
|
NM_001035.3(RYR2):c.13101G>T (p.Lys4367Asn)
|
|
|
|
NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu)
|
rs869025514
|
|
|
NM_001035.3(RYR2):c.13134C>T (p.Asp4378=)
|
|
|
|
NM_001035.3(RYR2):c.13162GGA[1] (p.Gly4389del)
|
rs1695419973
|
|
|
NM_001035.3(RYR2):c.13169A>G (p.Gln4390Arg)
|
rs763987225
|
|
|
NM_001035.3(RYR2):c.13193C>A (p.Pro4398Gln)
|
|
|
|
NM_001035.3(RYR2):c.1320G>C (p.Ala440=)
|
rs887478410
|
|
|
NM_001035.3(RYR2):c.13216A>C (p.Met4406Leu)
|
rs1328615953
|
|
|
NM_001035.3(RYR2):c.13228G>C (p.Val4410Leu)
|
|
|
|
NM_001035.3(RYR2):c.13229T>C (p.Val4410Ala)
|
rs748604898
|
|
|
NM_001035.3(RYR2):c.13255T>A (p.Phe4419Ile)
|
rs866127660
|
|
|
NM_001035.3(RYR2):c.13261-6T>C
|
|
|
|
NM_001035.3(RYR2):c.13261-9T>C
|
rs766481385
|
|
|
NM_001035.3(RYR2):c.13272A>G (p.Ala4424=)
|
|
|
|
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del)
|
rs869025516
|
|
|
NM_001035.3(RYR2):c.13325C>T (p.Ala4442Val)
|
rs1553324230
|
|
|
NM_001035.3(RYR2):c.13329-4A>T
|
rs757577119
|
|
|
NM_001035.3(RYR2):c.13337A>G (p.Asp4446Gly)
|
rs2149367007
|
|
|
NM_001035.3(RYR2):c.13338T>C (p.Asp4446=)
|
rs1657866854
|
|
|
NM_001035.3(RYR2):c.13350A>G (p.Glu4450=)
|
rs1657867796
|
|
|
NM_001035.3(RYR2):c.13367A>C (p.Asp4456Ala)
|
|
|
|
NM_001035.3(RYR2):c.1336G>A (p.Asp446Asn)
|
rs748867973
|
|
|
NM_001035.3(RYR2):c.13371G>T (p.Lys4457Asn)
|
rs769311004
|
|
|
NM_001035.3(RYR2):c.13372G>A (p.Gly4458Ser)
|
|
|
|
NM_001035.3(RYR2):c.13384T>C (p.Leu4462=)
|
|
|
|
NM_001035.3(RYR2):c.13398C>G (p.His4466Gln)
|
|
|
|
NM_001035.3(RYR2):c.13400C>T (p.Thr4467Ile)
|
rs933184477
|
|
|
NM_001035.3(RYR2):c.13401_13410dup (p.Gly4471fs)
|
rs1657872579
|
|
|
NM_001035.3(RYR2):c.13434A>G (p.Ser4478=)
|
|
|
|
NM_001035.3(RYR2):c.13476+6A>T
|
rs1457866950
|
|
|
NM_001035.3(RYR2):c.13476+8_13476+11dup
|
rs864309562
|
|
|
NM_001035.3(RYR2):c.13518C>G (p.Ala4506=)
|
rs2149379112
|
|
|
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)
|
rs397516510
|
|
|
NM_001035.3(RYR2):c.13535C>G (p.Ala4512Gly)
|
|
|
|
NM_001035.3(RYR2):c.13541A>G (p.Asn4514Ser)
|
rs397516511
|
|
|
NM_001035.3(RYR2):c.13561A>G (p.Lys4521Glu)
|
|
|
|
NM_001035.3(RYR2):c.13563+2T>C
|
|
|
|
NM_001035.3(RYR2):c.13564-12G>A
|
rs761916703
|
|
|
NM_001035.3(RYR2):c.13564-3C>T
|
rs2149380968
|
|
|
NM_001035.3(RYR2):c.13571C>T (p.Thr4524Ile)
|
|
|
|
NM_001035.3(RYR2):c.13573TCT[1] (p.Ser4526del)
|
rs749495172
|
|
|
NM_001035.3(RYR2):c.13575T>C (p.Ser4525=)
|
|
|
|
NM_001035.3(RYR2):c.13578T>C (p.Ser4526=)
|
|
|
|
NM_001035.3(RYR2):c.13588G>A (p.Gly4530Arg)
|
|
|
|
NM_001035.3(RYR2):c.13605G>A (p.Thr4535=)
|
rs1573967641
|
|
|
NM_001035.3(RYR2):c.13616G>C (p.Ser4539Thr)
|
|
|
|
NM_001035.3(RYR2):c.13627A>G (p.Lys4543Glu)
|
rs745869007
|
|
|
NM_001035.3(RYR2):c.13630G>A (p.Val4544Met)
|
rs1235379196
|
|
|
NM_001035.3(RYR2):c.13640T>C (p.Leu4547Pro)
|
rs2149381328
|
|
|
NM_001035.3(RYR2):c.13655A>T (p.His4552Leu)
|
rs768299786
|
|
|
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro)
|
rs189345192
|
|
|
NM_001035.3(RYR2):c.13672C>A (p.His4558Asn)
|
rs773264033
|
|
|
NM_001035.3(RYR2):c.13695C>A (p.Ser4565Arg)
|
|
|
|
NM_001035.3(RYR2):c.13702A>G (p.Met4568Val)
|
rs1658463987
|
|
|
NM_001035.3(RYR2):c.13713G>A (p.Thr4571=)
|
rs761552358
|
|
|
NM_001035.3(RYR2):c.13739C>T (p.Thr4580Met)
|
rs1658469199
|
|
|
NM_001035.3(RYR2):c.13770C>T (p.Tyr4590=)
|
rs1260477367
|
|
|
NM_001035.3(RYR2):c.13774T>C (p.Cys4592Arg)
|
rs1193389004
|
|
|
NM_001035.3(RYR2):c.13783-6A>T
|
rs790901
|
|
|
NM_001035.3(RYR2):c.13783-6_13783-4delinsGTA
|
rs2149387964
|
|
|
NM_001035.3(RYR2):c.13783-7_13783-6delinsCG
|
rs1658754384
|
|
|
NM_001035.3(RYR2):c.13789T>C (p.Leu4597=)
|
rs1253011897
|
|
|
NM_001035.3(RYR2):c.137T>C (p.Leu46Pro)
|
rs931490334
|
|
|
NM_001035.3(RYR2):c.13805G>A (p.Arg4602Gln)
|
rs1553328160
|
|
|
NM_001035.3(RYR2):c.13838A>C (p.Asp4613Ala)
|
|
|
|
NM_001035.3(RYR2):c.13850T>A (p.Ile4617Asn)
|
rs2149388189
|
|
|
NM_001035.3(RYR2):c.13861C>A (p.Pro4621Thr)
|
rs1573977132
|
|
|
NM_001035.3(RYR2):c.13897C>A (p.Leu4633Ile)
|
|
|
|
NM_001035.3(RYR2):c.13901T>C (p.Val4634Ala)
|
rs1384324063
|
|
|
NM_001035.3(RYR2):c.13903A>G (p.Ile4635Val)
|
rs1558429505
|
|
|
NM_001035.3(RYR2):c.13914-8T>C
|
rs1658966034
|
|
|
NM_001035.3(RYR2):c.13950A>G (p.Lys4650=)
|
|
|
|
NM_001035.3(RYR2):c.13953A>G (p.Arg4651=)
|
|
|
|
NM_001035.3(RYR2):c.13957-13C>G
|
rs1659469270
|
|
|
NM_001035.3(RYR2):c.1395C>A (p.Pro465=)
|
rs111990043
|
|
|
NM_001035.3(RYR2):c.1395C>G (p.Pro465=)
|
rs111990043
|
|
|
NM_001035.3(RYR2):c.1397C>G (p.Pro466Arg)
|
rs967199869
|
|
|
NM_001035.3(RYR2):c.13G>T (p.Gly5Cys)
|
rs2148061465
|
|
|
NM_001035.3(RYR2):c.14002G>C (p.Glu4668Gln)
|
|
|
|
NM_001035.3(RYR2):c.14003A>T (p.Glu4668Val)
|
rs1659482165
|
|
|
NM_001035.3(RYR2):c.14008C>T (p.Leu4670Phe)
|
rs775408548
|
|
|
NM_001035.3(RYR2):c.14014A>G (p.Met4672Val)
|
rs1423265074
|
|
|
NM_001035.3(RYR2):c.14043T>C (p.Asp4681=)
|
rs1659489574
|
|
|
NM_001035.3(RYR2):c.14048_14049delinsAT (p.Arg4683Asn)
|
rs1558439258
|
|
|
NM_001035.3(RYR2):c.14053AAG[2] (p.Lys4687del)
|
rs1245102430
|
|
|
NM_001035.3(RYR2):c.14062C>G (p.Pro4688Ala)
|
rs1659493419
|
|
|
NM_001035.3(RYR2):c.14091A>C (p.Val4697=)
|
rs1660015483
|
|
|
NM_001035.3(RYR2):c.14091A>G (p.Val4697=)
|
rs1660015483
|
|
|
NM_001035.3(RYR2):c.14112G>A (p.Lys4704=)
|
rs2149419558
|
|
|
NM_001035.3(RYR2):c.14113T>G (p.Tyr4705Asp)
|
rs1660017859
|
|
|
NM_001035.3(RYR2):c.14130A>G (p.Leu4710=)
|
|
|
|
NM_001035.3(RYR2):c.14136C>A (p.Val4712=)
|
rs756435572
|
|
|
NM_001035.3(RYR2):c.14136C>T (p.Val4712=)
|
rs756435572
|
|
|
NM_001035.3(RYR2):c.14151+4A>G
|
rs2149419707
|
|
|
NM_001035.3(RYR2):c.14179A>T (p.Thr4727Ser)
|
rs2149437498
|
|
|
NM_001035.3(RYR2):c.14182A>G (p.Met4728Val)
|
rs562116040
|
|
|
NM_001035.3(RYR2):c.14202T>C (p.Tyr4734=)
|
rs2149437556
|
|
|
NM_001035.3(RYR2):c.14217dup (p.Ala4740fs)
|
rs749201569
|
|
|
NM_001035.3(RYR2):c.14233G>A (p.Asp4745Asn)
|
rs1660618055
|
|
|
NM_001035.3(RYR2):c.14256A>C (p.Thr4752=)
|
rs1660620513
|
|
|
NM_001035.3(RYR2):c.14292C>A (p.Gly4764=)
|
rs1660622870
|
|
|
NM_001035.3(RYR2):c.14292C>G (p.Gly4764=)
|
rs1660622870
|
|
|
NM_001035.3(RYR2):c.1431C>T (p.Asn477=)
|
rs1225809471
|
|
|
NM_001035.3(RYR2):c.14338C>T (p.Leu4780=)
|
rs764103963
|
|
|
NM_001035.3(RYR2):c.14346T>C (p.Thr4782=)
|
rs1660962830
|
|
|
NM_001035.3(RYR2):c.14361T>C (p.Asn4787=)
|
rs1301435412
|
|
|
NM_001035.3(RYR2):c.14388T>C (p.Ser4796=)
|
rs2149446615
|
|
|
NM_001035.3(RYR2):c.14398G>A (p.Asp4800Asn)
|
rs1660967126
|
|
|
NM_001035.3(RYR2):c.14399_14401del (p.Asp4800_Thr4801delinsAla)
|
|
|
|
NM_001035.3(RYR2):c.14405C>T (p.Pro4802Leu)
|
rs1660968129
|
|
|
NM_001035.3(RYR2):c.14433A>C (p.Thr4811=)
|
|
|
|
NM_001035.3(RYR2):c.14434-11C>T
|
|
|
|
NM_001035.3(RYR2):c.14434-13G>C
|
rs1197470515
|
|
|
NM_001035.3(RYR2):c.14434-15A>T
|
rs1414554358
|
|
|
NM_001035.3(RYR2):c.14434-5dup
|
rs1662145037
|
|
|
NM_001035.3(RYR2):c.14436C>T (p.Cys4812=)
|
rs1662145909
|
|
|
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=)
|
rs114303476
|
|
|
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=)
|
rs114303476
|
|
|
NM_001035.3(RYR2):c.14485G>A (p.Asp4829Asn)
|
|
|
|
NM_001035.3(RYR2):c.14494G>A (p.Glu4832Lys)
|
rs1443988544
|
|
|
NM_001035.3(RYR2):c.14517T>C (p.Tyr4839=)
|
rs2102825273
|
|
|
NM_001035.3(RYR2):c.14563A>G (p.Ile4855Val)
|
|
|
|
NM_001035.3(RYR2):c.14577G>A (p.Leu4859=)
|
rs1662156109
|
|
|
NM_001035.3(RYR2):c.14591-9del
|
rs876657987
|
|
|
NM_001035.3(RYR2):c.14592T>C (p.Gly4864=)
|
rs774554572
|
|
|
NM_001035.3(RYR2):c.14656-12T>A
|
|
|
|
NM_001035.3(RYR2):c.14656-13C>A
|
rs1663654908
|
|
|
NM_001035.3(RYR2):c.14701G>A (p.Val4901Met)
|
rs2102947130
|
|
|
NM_001035.3(RYR2):c.1470G>A (p.Gln490=)
|
rs752945105
|
|
|
NM_001035.3(RYR2):c.1471G>A (p.Glu491Lys)
|
rs1658580412
|
|
|
NM_001035.3(RYR2):c.14727T>A (p.Thr4909=)
|
rs1663663783
|
|
|
NM_001035.3(RYR2):c.14730A>G (p.Leu4910=)
|
rs1553342510
|
|
|
NM_001035.3(RYR2):c.14756+3G>A
|
rs1057523295
|
|
|
NM_001035.3(RYR2):c.14757-10G>A
|
rs1483183617
|
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
|
NM_001035.3(RYR2):c.14757-8A>G
|
|
|
|
NM_001035.3(RYR2):c.1477-7G>T
|
rs763127313
|
|
|
NM_001035.3(RYR2):c.14808+2T>G
|
rs1663793978
|
|
|
NM_001035.3(RYR2):c.14809-8T>G
|
|
|
|
NM_001035.3(RYR2):c.14818G>A (p.Val4940Ile)
|
rs1558506940
|
|
|
NM_001035.3(RYR2):c.14898A>T (p.Leu4966=)
|
|
|
|
NM_001035.3(RYR2):c.14904_*1dup (p.Ter4968=)
|
rs777179393
|
|
|
NM_001035.3(RYR2):c.1501T>G (p.Cys501Gly)
|
rs969500202
|
|
|
NM_001035.3(RYR2):c.1510C>T (p.Arg504Cys)
|
rs373502556
|
|
|
NM_001035.3(RYR2):c.1514T>G (p.Leu505Trp)
|
rs1658857026
|
|
|
NM_001035.3(RYR2):c.1539C>T (p.His513=)
|
rs1303496576
|
|
|
NM_001035.3(RYR2):c.1556G>C (p.Gly519Ala)
|
rs1658861680
|
|
|
NM_001035.3(RYR2):c.1558C>A (p.Arg520=)
|
rs749567039
|
|
|
NM_001035.3(RYR2):c.1558C>T (p.Arg520Ter)
|
rs749567039
|
|
|
NM_001035.3(RYR2):c.1559G>T (p.Arg520Leu)
|
rs564957172
|
|
|
NM_001035.3(RYR2):c.1568G>A (p.Gly523Glu)
|
rs1658865001
|
|
|
NM_001035.3(RYR2):c.156T>C (p.Thr52=)
|
|
|
|
NM_001035.3(RYR2):c.1578G>A (p.Trp526Ter)
|
|
|
|
NM_001035.3(RYR2):c.1590G>T (p.Leu530=)
|
rs765883801
|
|
|
NM_001035.3(RYR2):c.1595C>T (p.Ser532Phe)
|
rs751116149
|
|
|
NM_001035.3(RYR2):c.1613-8T>G
|
rs1660396697
|
|
|
NM_001035.3(RYR2):c.1629A>G (p.Gly543=)
|
rs1660399377
|
|
|
NM_001035.3(RYR2):c.1647T>C (p.Ala549=)
|
rs1553462870
|
|
|
NM_001035.3(RYR2):c.1650A>G (p.Gln550=)
|
rs1660402221
|
|
|
NM_001035.3(RYR2):c.167A>C (p.Lys56Thr)
|
rs2149347249
|
|
|
NM_001035.3(RYR2):c.169-2A>C
|
rs1696639875
|
|
|
NM_001035.3(RYR2):c.1694T>A (p.Leu565Gln)
|
|
|
|
NM_001035.3(RYR2):c.1709-13G>C
|
rs1271952622
|
|
|
NM_001035.3(RYR2):c.1709-15T>C
|
rs1663379209
|
|
|
NM_001035.3(RYR2):c.1709-7T>C
|
rs1663380684
|
|
|
NM_001035.3(RYR2):c.1709G>C (p.Gly570Ala)
|
rs1663381527
|
|
|
NM_001035.3(RYR2):c.170A>G (p.Asn57Ser)
|
|
|
|
NM_001035.3(RYR2):c.1712T>A (p.Ile571Asn)
|
rs886046263
|
|
|
NM_001035.3(RYR2):c.1714C>T (p.Leu572=)
|
rs1663382480
|
|
|
NM_001035.3(RYR2):c.1731T>C (p.Cys577=)
|
rs1663383403
|
|
|
NM_001035.3(RYR2):c.1738G>T (p.Val580Leu)
|
rs1572569244
|
|
|
NM_001035.3(RYR2):c.1784A>G (p.Lys595Arg)
|
rs1370136013
|
|
|
NM_001035.3(RYR2):c.179C>G (p.Pro60Arg)
|
|
|
|
NM_001035.3(RYR2):c.180A>C (p.Pro60=)
|
rs1696641571
|
|
|
NM_001035.3(RYR2):c.1822C>G (p.His608Asp)
|
rs727504718
|
|
|
NM_001035.3(RYR2):c.1828-12T>G
|
rs1663578215
|
|
|
NM_001035.3(RYR2):c.1842G>T (p.Leu614Phe)
|
rs1227994309
|
|
|
NM_001035.3(RYR2):c.1844G>T (p.Cys615Phe)
|
rs748190200
|
|
|
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe)
|
rs794728813
|
|
|
NM_001035.3(RYR2):c.1867G>A (p.Val623Ile)
|
|
|
|
NM_001035.3(RYR2):c.1926G>A (p.Leu642=)
|
rs1663589903
|
|
|
NM_001035.3(RYR2):c.1926_1927delinsAAAGA (p.Leu643delinsLysIle)
|
|
|
|
NM_001035.3(RYR2):c.1927T>C (p.Leu643=)
|
|
|
|
NM_001035.3(RYR2):c.1929A>T (p.Leu643Phe)
|
|
|
|
NM_001035.3(RYR2):c.1947G>A (p.Val649=)
|
rs1663593634
|
|
|
NM_001035.3(RYR2):c.1956C>G (p.Val652=)
|
rs2150422314
|
|
|
NM_001035.3(RYR2):c.1962-15C>G
|
|
|
|
NM_001035.3(RYR2):c.1962-2dup
|
|
|
|
NM_001035.3(RYR2):c.1964T>C (p.Met655Thr)
|
rs1664091907
|
|
|
NM_001035.3(RYR2):c.1986C>T (p.Gly662=)
|
|
|
|
NM_001035.3(RYR2):c.1989C>G (p.Val663=)
|
|
|
|
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)
|
rs779910353
|
|
|
NM_001035.3(RYR2):c.2016A>G (p.Lys672=)
|
|
|
|
NM_001035.3(RYR2):c.2021A>G (p.Tyr674Cys)
|
|
|
|
NM_001035.3(RYR2):c.2031G>A (p.Leu677=)
|
rs1664099909
|
|
|
NM_001035.3(RYR2):c.2038G>A (p.Asp680Asn)
|
rs794728727
|
|
|
NM_001035.3(RYR2):c.2041C>T (p.His681Tyr)
|
|
|
|
NM_001035.3(RYR2):c.2042A>G (p.His681Arg)
|
rs1344581490
|
|
|
NM_001035.3(RYR2):c.204G>C (p.Val68=)
|
rs2149568050
|
|
|
NM_001035.3(RYR2):c.2057T>G (p.Val686Gly)
|
rs1664102967
|
|
|
NM_001035.3(RYR2):c.2069C>T (p.Ala690Val)
|
rs2150448358
|
|
|
NM_001035.3(RYR2):c.2075A>T (p.His692Leu)
|
|
|
|
NM_001035.3(RYR2):c.208G>A (p.Glu70Lys)
|
|
|
|
NM_001035.3(RYR2):c.2106A>T (p.Gly702=)
|
rs774473013
|
|
|
NM_001035.3(RYR2):c.2118C>T (p.Tyr706=)
|
rs1431902945
|
|
|
NM_001035.3(RYR2):c.2122G>A (p.Gly708Arg)
|
rs1235629482
|
|
|
NM_001035.3(RYR2):c.2126G>A (p.Gly709Glu)
|
rs1664109062
|
|
|
NM_001035.3(RYR2):c.2129G>T (p.Gly710Val)
|
rs926435910
|
|
|
NM_001035.3(RYR2):c.2138G>C (p.Trp713Ser)
|
rs1553473238
|
|
|
NM_001035.3(RYR2):c.2138G>T (p.Trp713Leu)
|
rs1553473238
|
|
|
NM_001035.3(RYR2):c.2145A>T (p.Gly715=)
|
rs764163453
|
|
|
NM_001035.3(RYR2):c.2161G>A (p.Asp721Asn)
|
rs867855587
|
|
|
NM_001035.3(RYR2):c.2203+4C>A
|
|
|
|
NM_001035.3(RYR2):c.2203+5G>A
|
rs766288440
|
|
|
NM_001035.3(RYR2):c.2203G>C (p.Gly735Arg)
|
rs1442111387
|
|
|
NM_001035.3(RYR2):c.2204-12T>A
|
rs753604347
|
|
|
NM_001035.3(RYR2):c.2204-12T>G
|
rs753604347
|
|
|
NM_001035.3(RYR2):c.2204-14T>C
|
rs767973692
|
|
|
NM_001035.3(RYR2):c.2204-15T>C
|
rs1010022959
|
|
|
NM_001035.3(RYR2):c.2213C>G (p.Ala738Gly)
|
rs758381482
|
|
|
NM_001035.3(RYR2):c.2213C>T (p.Ala738Val)
|
|
|
|
NM_001035.3(RYR2):c.223G>A (p.Val75Ile)
|
rs868504232
|
|
|
NM_001035.3(RYR2):c.2240A>G (p.His747Arg)
|
|
|
|
NM_001035.3(RYR2):c.2253T>C (p.Thr751=)
|
rs762905211
|
|
|
NM_001035.3(RYR2):c.2275T>G (p.Leu759Val)
|
rs768063536
|
|
|
NM_001035.3(RYR2):c.227G>A (p.Arg76Gln)
|
rs1696646305
|
|
|
NM_001035.3(RYR2):c.2288C>T (p.Ala763Val)
|
rs1664552898
|
|
|
NM_001035.3(RYR2):c.2293A>C (p.Ser765Arg)
|
rs748603282
|
|
|
NM_001035.3(RYR2):c.2300_2301delinsGT (p.Ser767Cys)
|
rs1553474603
|
|
|
NM_001035.3(RYR2):c.2301G>A (p.Ser767=)
|
rs117588730
|
|
|
NM_001035.3(RYR2):c.2302T>C (p.Phe768Leu)
|
rs751507066
|
|
|
NM_001035.3(RYR2):c.2316A>G (p.Gly772=)
|
rs1482407990
|
|
|
NM_001035.3(RYR2):c.2346C>T (p.Phe782=)
|
rs2150477024
|
|
|
NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn)
|
rs774486571
|
|
|
NM_001035.3(RYR2):c.2355T>C (p.Asp785=)
|
rs1664560358
|
|
|
NM_001035.3(RYR2):c.2391A>G (p.Gly797=)
|
rs1664565010
|
|
|
NM_001035.3(RYR2):c.2397-15G>A
|
|
|
|
NM_001035.3(RYR2):c.2397A>C (p.Lys799Asn)
|
rs1558931160
|
|
|
NM_001035.3(RYR2):c.2399T>C (p.Val800Ala)
|
rs794728730
|
|
|
NM_001035.3(RYR2):c.2401C>T (p.Arg801Cys)
|
rs940667860
|
|
|
NM_001035.3(RYR2):c.2418G>A (p.Gly806=)
|
rs1572625120
|
|
|
NM_001035.3(RYR2):c.2427A>T (p.Gly809=)
|
rs2150493412
|
|
|
NM_001035.3(RYR2):c.2431T>A (p.Phe811Ile)
|
rs1664862243
|
|
|
NM_001035.3(RYR2):c.2435A>C (p.Lys812Thr)
|
rs779155482
|
|
|
NM_001035.3(RYR2):c.2435A>G (p.Lys812Arg)
|
rs779155482
|
|
|
NM_001035.3(RYR2):c.2435A>T (p.Lys812Ile)
|
rs779155482
|
|
|
NM_001035.3(RYR2):c.2445_2446del (p.Pro816fs)
|
|
|
|
NM_001035.3(RYR2):c.2446C>T (p.Pro816Ser)
|
|
|
|
NM_001035.3(RYR2):c.2449C>A (p.Pro817Thr)
|
rs780266883
|
|
|
NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala)
|
rs780266883
|
|
|
NM_001035.3(RYR2):c.244C>T (p.Leu82=)
|
rs572934844
|
|
|
NM_001035.3(RYR2):c.2450C>T (p.Pro817Leu)
|
rs747582933
|
|
|
NM_001035.3(RYR2):c.2451T>G (p.Pro817=)
|
rs1664864797
|
|
|
NM_001035.3(RYR2):c.2454G>A (p.Gly818=)
|
rs769137517
|
|
|
NM_001035.3(RYR2):c.2454G>T (p.Gly818=)
|
rs769137517
|
|
|
NM_001035.3(RYR2):c.2471A>T (p.Glu824Val)
|
rs1664867345
|
|
|
NM_001035.3(RYR2):c.2510G>C (p.Ser837Thr)
|
rs375607964
|
|
|
NM_001035.3(RYR2):c.2511C>A (p.Ser837Arg)
|
|
|
|
NM_001035.3(RYR2):c.2517G>A (p.Glu839=)
|
rs2150494100
|
|
|
NM_001035.3(RYR2):c.2540C>A (p.Thr847Lys)
|
|
|
|
NM_001035.3(RYR2):c.2541A>G (p.Thr847=)
|
|
|
|
NM_001035.3(RYR2):c.2547C>T (p.Asp849=)
|
rs780283100
|
|
|
NM_001035.3(RYR2):c.2553G>A (p.Leu851=)
|
rs1664875424
|
|
|
NM_001035.3(RYR2):c.255C>T (p.Thr85=)
|
|
|
|
NM_001035.3(RYR2):c.2573C>A (p.Thr858Lys)
|
|
|
|
NM_001035.3(RYR2):c.2592C>T (p.Pro864=)
|
|
|
|
NM_001035.3(RYR2):c.2601G>A (p.Val867=)
|
rs1664878565
|
|
|
NM_001035.3(RYR2):c.2613+5_2613+6insTTGC
|
rs747260754
|
|
|
NM_001035.3(RYR2):c.2617G>C (p.Val873Leu)
|
rs369248015
|
|
|
NM_001035.3(RYR2):c.2619G>C (p.Val873=)
|
rs1191922871
|
|
|
NM_001035.3(RYR2):c.2631T>A (p.His877Gln)
|
rs1050687513
|
|
|
NM_001035.3(RYR2):c.2635G>C (p.Glu879Gln)
|
rs576214225
|
|
|
NM_001035.3(RYR2):c.2639G>T (p.Arg880Ile)
|
rs1386796924
|
|
|
NM_001035.3(RYR2):c.2656G>T (p.Ala886Ser)
|
rs752663219
|
|
|
NM_001035.3(RYR2):c.2697G>A (p.Glu899=)
|
rs1290085302
|
|
|
NM_001035.3(RYR2):c.2697G>C (p.Glu899Asp)
|
rs1290085302
|
|
|
NM_001035.3(RYR2):c.2715T>C (p.Gly905=)
|
|
|
|
NM_001035.3(RYR2):c.2716C>G (p.Pro906Ala)
|
rs754520058
|
|
|
NM_001035.3(RYR2):c.2719-14C>G
|
rs1665912372
|
|
|
NM_001035.3(RYR2):c.272G>A (p.Gly91Glu)
|
rs1696651542
|
|
|
NM_001035.3(RYR2):c.274-5C>G
|
rs768394710
|
|
|
NM_001035.3(RYR2):c.2761T>A (p.Phe921Ile)
|
rs372752031
|
|
|
NM_001035.3(RYR2):c.2785C>A (p.Arg929Ser)
|
|
|
|
NM_001035.3(RYR2):c.2785C>G (p.Arg929Gly)
|
rs528906699
|
|
|
NM_001035.3(RYR2):c.2785C>T (p.Arg929Cys)
|
|
|
|
NM_001035.3(RYR2):c.2808G>T (p.Ser936=)
|
rs1057521205
|
|
|
NM_001035.3(RYR2):c.2823-14G>A
|
rs1668030050
|
|
|
NM_001035.3(RYR2):c.2823-4C>T
|
|
|
|
NM_001035.3(RYR2):c.2833G>T (p.Ala945Ser)
|
rs755764350
|
|
|
NM_001035.3(RYR2):c.283G>A (p.Val95Met)
|
rs2149691920
|
|
|
NM_001035.3(RYR2):c.2877C>A (p.Asp959Glu)
|
rs1042196921
|
|
|
NM_001035.3(RYR2):c.2879A>C (p.Lys960Thr)
|
rs1668036111
|
|
|
NM_001035.3(RYR2):c.2881G>A (p.Val961Met)
|
rs876657990
|
|
|
NM_001035.3(RYR2):c.2881G>T (p.Val961Leu)
|
rs876657990
|
|
|
NM_001035.3(RYR2):c.2886A>G (p.Lys962=)
|
rs2147940587
|
|
|
NM_001035.3(RYR2):c.2890A>C (p.Met964Leu)
|
rs1362839960
|
|
|
NM_001035.3(RYR2):c.2901C>G (p.Pro967=)
|
rs747234013
|
|
|
NM_001035.3(RYR2):c.2901C>T (p.Pro967=)
|
rs747234013
|
|
|
NM_001035.3(RYR2):c.2906+6T>C
|
|
|
|
NM_001035.3(RYR2):c.2907-4G>A
|
rs2148089177
|
|
|
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=)
|
rs575899061
|
|
|
NM_001035.3(RYR2):c.2920A>T (p.Ser974Cys)
|
rs1670045546
|
|
|
NM_001035.3(RYR2):c.292del (p.Trp98fs)
|
rs2149691982
|
|
|
NM_001035.3(RYR2):c.2936C>T (p.Ala979Val)
|
|
|
|
NM_001035.3(RYR2):c.2937C>G (p.Ala979=)
|
rs746756224
|
|
|
NM_001035.3(RYR2):c.2938C>T (p.Pro980Ser)
|
|
|
|
NM_001035.3(RYR2):c.2943G>T (p.Met981Ile)
|
rs1559007743
|
|
|
NM_001035.3(RYR2):c.295-2A>C
|
rs2149727068
|
|
|
NM_001035.3(RYR2):c.295-6C>G
|
rs1700027349
|
|
|
NM_001035.3(RYR2):c.295-9C>A
|
|
|
|
NM_001035.3(RYR2):c.2969C>A (p.Pro990Gln)
|
rs912594681
|
|
|
NM_001035.3(RYR2):c.2970A>G (p.Pro990=)
|
rs944622392
|
|
|
NM_001035.3(RYR2):c.2973A>T (p.Ser991=)
|
rs2253273
|
|
|
NM_001035.3(RYR2):c.3023C>A (p.Ala1008Glu)
|
rs1232224119
|
|
|
NM_001035.3(RYR2):c.3028G>A (p.Asp1010Asn)
|
rs780949229
|
|
|
NM_001035.3(RYR2):c.3045C>T (p.Gly1015=)
|
rs1405734932
|
|
|
NM_001035.3(RYR2):c.3056G>A (p.Gly1019Asp)
|
rs768150796
|
|
|
NM_001035.3(RYR2):c.3056G>T (p.Gly1019Val)
|
rs768150796
|
|
|
NM_001035.3(RYR2):c.3063A>C (p.Gln1021His)
|
rs2148091504
|
|
|
NM_001035.3(RYR2):c.3066+5A>G
|
rs1346060761
|
|
|
NM_001035.3(RYR2):c.306G>A (p.Met102Ile)
|
rs1700029219
|
|
|
NM_001035.3(RYR2):c.3070G>A (p.Val1024Ile)
|
rs1291873158
|
|
|
NM_001035.3(RYR2):c.3086A>C (p.Asn1029Thr)
|
rs2148112396
|
|
|
NM_001035.3(RYR2):c.309+1G>A
|
rs2149727202
|
|
|
NM_001035.3(RYR2):c.309+5G>A
|
rs794728695
|
|
|
NM_001035.3(RYR2):c.310A>T (p.Thr104Ser)
|
rs1060500155
|
|
|
NM_001035.3(RYR2):c.3115G>T (p.Asp1039Tyr)
|
rs1670289173
|
|
|
NM_001035.3(RYR2):c.3122G>A (p.Arg1041Gln)
|
rs773781713
|
|
|
NM_001035.3(RYR2):c.3135C>G (p.Ser1045=)
|
rs759494684
|
|
|
NM_001035.3(RYR2):c.3143A>G (p.Asp1048Gly)
|
|
|
|
NM_001035.3(RYR2):c.3160G>C (p.Val1054Leu)
|
rs1670294201
|
|
|
NM_001035.3(RYR2):c.3179A>G (p.Tyr1060Cys)
|
rs922979329
|
|
|
NM_001035.3(RYR2):c.3182G>A (p.Gly1061Asp)
|
rs373083911
|
|
|
NM_001035.3(RYR2):c.3199C>G (p.Pro1067Ala)
|
rs778889621
|
|
|
NM_001035.3(RYR2):c.3215-14T>G
|
rs1672104473
|
|
|
NM_001035.3(RYR2):c.3215-4C>G
|
|
|
|
NM_001035.3(RYR2):c.3217G>A (p.Ala1073Thr)
|
rs1427686482
|
|
|
NM_001035.3(RYR2):c.3218C>T (p.Ala1073Val)
|
rs752172893
|
|
|
NM_001035.3(RYR2):c.3246G>A (p.Gly1082=)
|
rs1672110603
|
|
|
NM_001035.3(RYR2):c.3257G>A (p.Arg1086Gln)
|
rs749566870
|
|
|
NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys)
|
rs879255350
|
|
|
NM_001035.3(RYR2):c.3267T>C (p.Arg1089=)
|
rs761738779
|
|
|
NM_001035.3(RYR2):c.3270C>T (p.Ala1090=)
|
rs1344074824
|
|
|
NM_001035.3(RYR2):c.3276G>A (p.Lys1092=)
|
rs2148252062
|
|
|
NM_001035.3(RYR2):c.3277A>C (p.Thr1093Pro)
|
rs1672114573
|
|
|
NM_001035.3(RYR2):c.3282T>C (p.Tyr1094=)
|
rs1572900604
|
|
|
NM_001035.3(RYR2):c.3286G>A (p.Val1096Met)
|
rs1386531236
|
|
|
NM_001035.3(RYR2):c.3303G>T (p.Trp1101Cys)
|
|
|
|
NM_001035.3(RYR2):c.3321G>A (p.Thr1107=)
|
rs377716608
|
|
|
NM_001035.3(RYR2):c.3340A>C (p.Arg1114=)
|
|
|
|
NM_001035.3(RYR2):c.3369A>G (p.Gln1123=)
|
rs1672124134
|
|
|
NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu)
|
rs779640835
|
|
|
NM_001035.3(RYR2):c.3397C>G (p.Arg1133Gly)
|
rs748085424
|
|
|
NM_001035.3(RYR2):c.3398G>A (p.Arg1133His)
|
rs374397612
|
|
|
NM_001035.3(RYR2):c.3398G>T (p.Arg1133Leu)
|
rs374397612
|
|
|
NM_001035.3(RYR2):c.3401C>A (p.Ala1134Asp)
|
|
|
|
NM_001035.3(RYR2):c.3414T>A (p.Asp1138Glu)
|
rs763881346
|
|
|
NM_001035.3(RYR2):c.3420C>T (p.Phe1140=)
|
rs1672129012
|
|
|
NM_001035.3(RYR2):c.3425C>T (p.Ala1142Val)
|
rs772148152
|
|
|
NM_001035.3(RYR2):c.3444C>A (p.Gly1148=)
|
|
|
|
NM_001035.3(RYR2):c.3446A>G (p.Asn1149Ser)
|
rs1289440571
|
|
|
NM_001035.3(RYR2):c.3449A>T (p.Glu1150Val)
|
rs754335935
|
|
|
NM_001035.3(RYR2):c.346G>A (p.Gly116Arg)
|
|
|
|
NM_001035.3(RYR2):c.3486G>A (p.Val1162=)
|
rs749237298
|
|
|
NM_001035.3(RYR2):c.3497T>C (p.Val1166Ala)
|
|
|
|
NM_001035.3(RYR2):c.3565G>C (p.Glu1189Gln)
|
rs794728732
|
|
|
NM_001035.3(RYR2):c.356T>C (p.Ile119Thr)
|
rs1700481043
|
|
|
NM_001035.3(RYR2):c.3580G>C (p.Asp1194His)
|
rs1672413566
|
|
|
NM_001035.3(RYR2):c.3593G>A (p.Gly1198Asp)
|
rs1377831447
|
|
|
NM_001035.3(RYR2):c.3598+10_3598+12del
|
rs757703672
|
|
|
NM_001035.3(RYR2):c.3599-7T>A
|
rs2148430249
|
|
|
NM_001035.3(RYR2):c.3599-8_3599-7del
|
|
|
|
NM_001035.3(RYR2):c.3616A>G (p.Ser1206Gly)
|
|
|
|
NM_001035.3(RYR2):c.3633A>G (p.Gln1211=)
|
rs773741650
|
|
|
NM_001035.3(RYR2):c.3645G>A (p.Met1215Ile)
|
rs1674954397
|
|
|
NM_001035.3(RYR2):c.3658G>T (p.Asp1220Tyr)
|
rs753078642
|
|
|
NM_001035.3(RYR2):c.3702_3710del (p.Gly1235_Glu1237del)
|
|
|
|
NM_001035.3(RYR2):c.3704G>A (p.Gly1235Asp)
|
rs765263326
|
|
|
NM_001035.3(RYR2):c.3704G>C (p.Gly1235Ala)
|
rs765263326
|
|
|
NM_001035.3(RYR2):c.3727A>G (p.Thr1243Ala)
|
rs2148431124
|
|
|
NM_001035.3(RYR2):c.372C>T (p.Ser124=)
|
rs1478989523
|
|
|
NM_001035.3(RYR2):c.3738T>A (p.Asp1246Glu)
|
rs755170090
|
|
|
NM_001035.3(RYR2):c.375T>C (p.Tyr125=)
|
rs397516528
|
|
|
NM_001035.3(RYR2):c.3763C>T (p.Leu1255Phe)
|
rs2148431317
|
|
|
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr)
|
rs769729405
|
|
|
NM_001035.3(RYR2):c.377G>T (p.Ser126Ile)
|
rs2149755711
|
|
|
NM_001035.3(RYR2):c.3785C>T (p.Pro1262Leu)
|
rs1674966868
|
|
|
NM_001035.3(RYR2):c.3808-5G>C
|
rs776405427
|
|
|
NM_001035.3(RYR2):c.380G>C (p.Gly127Ala)
|
|
|
|
NM_001035.3(RYR2):c.381C>T (p.Gly127=)
|
|
|
|
NM_001035.3(RYR2):c.3838T>C (p.Ser1280Pro)
|
rs1208920889
|
|
|
NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys)
|
rs759424061
|
|
|
NM_001035.3(RYR2):c.3845G>A (p.Cys1282Tyr)
|
rs1559075923
|
|
|
NM_001035.3(RYR2):c.385-9A>C
|
rs140998248
|
|
|
NM_001035.3(RYR2):c.385-9A>G
|
rs140998248
|
|
|
NM_001035.3(RYR2):c.3866C>A (p.Ser1289Tyr)
|
rs1675056984
|
|
|
NM_001035.3(RYR2):c.386A>G (p.Tyr129Cys)
|
|
|
|
NM_001035.3(RYR2):c.3871G>C (p.Gly1291Arg)
|
rs2148436857
|
|
|
NM_001035.3(RYR2):c.3875C>G (p.Ser1292Cys)
|
rs1559075982
|
|
|
NM_001035.3(RYR2):c.3897C>G (p.Ile1299Met)
|
rs747846327
|
|
|
NM_001035.3(RYR2):c.3898A>G (p.Met1300Val)
|
rs769384124
|
|
|
NM_001035.3(RYR2):c.3900G>A (p.Met1300Ile)
|
|
|
|
NM_001035.3(RYR2):c.3905A>G (p.Tyr1302Cys)
|
rs2148437157
|
|
|
NM_001035.3(RYR2):c.3936G>C (p.Glu1312Asp)
|
|
|
|
NM_001035.3(RYR2):c.3938TCT[1] (p.Phe1314del)
|
|
|
|
NM_001035.3(RYR2):c.3946A>G (p.Lys1316Glu)
|
rs1675067457
|
|
|
NM_001035.3(RYR2):c.3946_3954delinsGCGAGGA (p.Lys1316fs)
|
rs1675067718
|
|
|
NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala)
|
rs1553514981
|
|
|
NM_001035.3(RYR2):c.3952G>A (p.Val1318Met)
|
rs1675068916
|
|
|
NM_001035.3(RYR2):c.3968C>G (p.Pro1323Arg)
|
|
|
|
NM_001035.3(RYR2):c.3969T>A (p.Pro1323=)
|
|
|
|
NM_001035.3(RYR2):c.3977G>A (p.Gly1326Asp)
|
rs1675072837
|
|
|
NM_001035.3(RYR2):c.3980T>C (p.Leu1327Pro)
|
rs923667966
|
|
|
NM_001035.3(RYR2):c.3997G>A (p.Asp1333Asn)
|
rs368281275
|
|
|
NM_001035.3(RYR2):c.4010ATG[1] (p.Asp1338del)
|
rs1675076853
|
|
|
NM_001035.3(RYR2):c.4015del (p.Ala1339fs)
|
rs1675077361
|
|
|
NM_001035.3(RYR2):c.4053T>C (p.His1351=)
|
|
|
|
NM_001035.3(RYR2):c.4058A>G (p.His1353Arg)
|
rs1675083076
|
|
|
NM_001035.3(RYR2):c.4068C>A (p.Pro1356=)
|
rs199821105
|
|
|
NM_001035.3(RYR2):c.4069G>A (p.Asp1357Asn)
|
rs193922626
|
|
|
NM_001035.3(RYR2):c.4072C>T (p.Arg1358Cys)
|
rs771593145
|
|
|
NM_001035.3(RYR2):c.4073G>A (p.Arg1358His)
|
rs1675084862
|
|
|
NM_001035.3(RYR2):c.4073G>T (p.Arg1358Leu)
|
|
|
|
NM_001035.3(RYR2):c.4093G>A (p.Ala1365Thr)
|
rs1159247790
|
|
|
NM_001035.3(RYR2):c.4109T>C (p.Phe1370Ser)
|
rs1675088358
|
|
|
NM_001035.3(RYR2):c.4113C>T (p.Asn1371=)
|
rs866565532
|
|
|
NM_001035.3(RYR2):c.4125T>C (p.Asp1375=)
|
rs397516529
|
|
|
NM_001035.3(RYR2):c.4130C>T (p.Ala1377Val)
|
|
|
|
NM_001035.3(RYR2):c.4161A>G (p.Arg1387=)
|
rs1573004917
|
|
|
NM_001035.3(RYR2):c.4171A>C (p.Arg1391=)
|
rs371561223
|
|
|
NM_001035.3(RYR2):c.4193G>A (p.Ser1398Asn)
|
rs761006189
|
|
|
NM_001035.3(RYR2):c.4224T>C (p.Asp1408=)
|
rs1265244815
|
|
|
NM_001035.3(RYR2):c.4230T>G (p.Leu1410=)
|
rs1675232306
|
|
|
NM_001035.3(RYR2):c.4240C>T (p.Arg1414Trp)
|
rs868750680
|
|
|
NM_001035.3(RYR2):c.4242G>A (p.Arg1414=)
|
rs371748225
|
|
|
NM_001035.3(RYR2):c.4246G>A (p.Asp1416Asn)
|
rs1675234680
|
|
|
NM_001035.3(RYR2):c.4265A>G (p.Gln1422Arg)
|
rs2148446764
|
|
|
NM_001035.3(RYR2):c.4269G>A (p.Thr1423=)
|
rs1342902406
|
|
|
NM_001035.3(RYR2):c.4276-10A>T
|
rs551064291
|
|
|
NM_001035.3(RYR2):c.4286C>T (p.Ser1429Leu)
|
rs1675464523
|
|
|
NM_001035.3(RYR2):c.4287A>G (p.Ser1429=)
|
rs1675464814
|
|
|
NM_001035.3(RYR2):c.4292G>A (p.Arg1431Lys)
|
rs267598435
|
|
|
NM_001035.3(RYR2):c.4294A>G (p.Ile1432Val)
|
rs769163639
|
|
|
NM_001035.3(RYR2):c.4302T>A (p.Pro1434=)
|
rs764119072
|
|
|
NM_001035.3(RYR2):c.4314T>A (p.Pro1438=)
|
rs1675467340
|
|
|
NM_001035.3(RYR2):c.4316C>G (p.Ala1439Gly)
|
rs1675467871
|
|
|
NM_001035.3(RYR2):c.4320T>C (p.Asn1440=)
|
rs1675468093
|
|
|
NM_001035.3(RYR2):c.4332C>A (p.Gly1444=)
|
|
|
|
NM_001035.3(RYR2):c.4340C>T (p.Thr1447Ile)
|
rs759197026
|
|
|
NM_001035.3(RYR2):c.4352A>T (p.His1451Leu)
|
rs1675471793
|
|
|
NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly)
|
rs752212017
|
|
|
NM_001035.3(RYR2):c.4366G>T (p.Gly1456Cys)
|
rs1265113691
|
|
|
NM_001035.3(RYR2):c.4384G>A (p.Val1462Ile)
|
rs755547916
|
|
|
NM_001035.3(RYR2):c.4388G>A (p.Arg1463His)
|
rs753707154
|
|
|
NM_001035.3(RYR2):c.4392A>G (p.Thr1464=)
|
rs1212639011
|
|
|
NM_001035.3(RYR2):c.4395A>C (p.Val1465=)
|
rs1308165341
|
|
|
NM_001035.3(RYR2):c.4396A>G (p.Thr1466Ala)
|
rs1675479559
|
|
|
NM_001035.3(RYR2):c.4405C>G (p.Leu1469Val)
|
rs2148458888
|
|
|
NM_001035.3(RYR2):c.4438A>G (p.Ile1480Val)
|
rs2148474350
|
|
|
NM_001035.3(RYR2):c.4446C>T (p.Arg1482=)
|
rs2148474398
|
|
|
NM_001035.3(RYR2):c.4448G>C (p.Ser1483Thr)
|
|
|
|
NM_001035.3(RYR2):c.4459A>G (p.Met1487Val)
|
rs1278512393
|
|
|
NM_001035.3(RYR2):c.4469C>T (p.Ala1490Val)
|
rs2148474559
|
|
|
NM_001035.3(RYR2):c.4480A>G (p.Met1494Val)
|
rs1675797583
|
|
|
NM_001035.3(RYR2):c.4487C>T (p.Pro1496Leu)
|
rs1675798798
|
|
|
NM_001035.3(RYR2):c.4499G>T (p.Arg1500Leu)
|
|
|
|
NM_001035.3(RYR2):c.4518G>T (p.Glu1506Asp)
|
|
|
|
NM_001035.3(RYR2):c.4531G>T (p.Val1511Leu)
|
rs1298609322
|
|
|
NM_001035.3(RYR2):c.4544G>T (p.Ser1515Ile)
|
|
|
|
NM_001035.3(RYR2):c.4546G>A (p.Gly1516Arg)
|
rs1287904079
|
|
|
NM_001035.3(RYR2):c.4556C>T (p.Thr1519Ile)
|
|
|
|
NM_001035.3(RYR2):c.4561A>G (p.Ile1521Val)
|
rs1484404966
|
|
|
NM_001035.3(RYR2):c.4562T>C (p.Ile1521Thr)
|
|
|
|
NM_001035.3(RYR2):c.4571G>A (p.Gly1524Asp)
|
rs1675809815
|
|
|
NM_001035.3(RYR2):c.4597-11A>C
|
rs1676556933
|
|
|
NM_001035.3(RYR2):c.4597-11del
|
rs3841805
|
|
|
NM_001035.3(RYR2):c.4597-4T>A
|
rs1676557876
|
|
|
NM_001035.3(RYR2):c.459C>T (p.Thr153=)
|
|
|
|
NM_001035.3(RYR2):c.4604C>T (p.Pro1535Leu)
|
rs973392998
|
|
|
NM_001035.3(RYR2):c.4607G>T (p.Ser1536Ile)
|
rs2148510905
|
|
|
NM_001035.3(RYR2):c.4611A>G (p.Thr1537=)
|
rs1285176357
|
|
|
NM_001035.3(RYR2):c.4625C>T (p.Ala1542Val)
|
|
|
|
NM_001035.3(RYR2):c.4634C>G (p.Ala1545Gly)
|
|
|
|
NM_001035.3(RYR2):c.464-12G>T
|
rs766779504
|
|
|
NM_001035.3(RYR2):c.464-9_464-8delinsCC
|
rs1572045142
|
|
|
NM_001035.3(RYR2):c.4644A>G (p.Thr1548=)
|
rs865947296
|
|
|
NM_001035.3(RYR2):c.465G>T (p.Gly155=)
|
rs1263456973
|
|
|
NM_001035.3(RYR2):c.4668G>T (p.Glu1556Asp)
|
rs370332700
|
|
|
NM_001035.3(RYR2):c.4684-11C>G
|
|
|
|
NM_001035.3(RYR2):c.4684-15C>G
|
rs201780507
|
|
|
NM_001035.3(RYR2):c.4684-5G>A
|
rs7522981
|
|
|
NM_001035.3(RYR2):c.4684-5G>T
|
rs7522981
|
|
|
NM_001035.3(RYR2):c.4684-7C>A
|
rs563233361
|
|
|
NM_001035.3(RYR2):c.4684-7C>T
|
|
|
|
NM_001035.3(RYR2):c.4686T>C (p.Asn1562=)
|
|
|
|
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala)
|
rs778783933
|
|
|
NM_001035.3(RYR2):c.46A>G (p.Thr16Ala)
|
rs1660040720
|
|
|
NM_001035.3(RYR2):c.4718G>A (p.Ser1573Asn)
|
rs776893934
|
|
|
NM_001035.3(RYR2):c.4720G>A (p.Glu1574Lys)
|
rs1677761241
|
|
|
NM_001035.3(RYR2):c.4734C>A (p.Pro1578=)
|
rs201880756
|
|
|
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)
|
rs201880756
|
|
|
NM_001035.3(RYR2):c.4735G>C (p.Val1579Leu)
|
rs763389778
|
|
|
NM_001035.3(RYR2):c.4740G>T (p.Pro1580=)
|
rs79811945
|
|
|
NM_001035.3(RYR2):c.4748C>T (p.Pro1583Leu)
|
rs1421328710
|
|
|
NM_001035.3(RYR2):c.4751C>T (p.Pro1584Leu)
|
rs772098320
|
|
|
NM_001035.3(RYR2):c.4770C>T (p.Phe1590=)
|
rs397516536
|
|
|
NM_001035.3(RYR2):c.4796T>C (p.Met1599Thr)
|
rs1250300972
|
|
|
NM_001035.3(RYR2):c.4799C>T (p.Pro1600Leu)
|
rs759952370
|
|
|
NM_001035.3(RYR2):c.4801A>G (p.Asn1601Asp)
|
rs1677778043
|
|
|
NM_001035.3(RYR2):c.4818A>G (p.Val1606=)
|
rs1559110553
|
|
|
NM_001035.3(RYR2):c.4821T>C (p.Asp1607=)
|
rs868510940
|
|
|
NM_001035.3(RYR2):c.4822G>C (p.Val1608Leu)
|
rs1677780778
|
|
|
NM_001035.3(RYR2):c.4826C>T (p.Ser1609Phe)
|
rs1677781028
|
|
|
NM_001035.3(RYR2):c.4836T>C (p.Ser1612=)
|
rs1677782247
|
|
|
NM_001035.3(RYR2):c.4844A>G (p.Gln1615Arg)
|
rs1677783755
|
|
|
NM_001035.3(RYR2):c.4856T>C (p.Val1619Ala)
|
rs1559110709
|
|
|
NM_001035.3(RYR2):c.4879T>C (p.Phe1627Leu)
|
|
|
|
NM_001035.3(RYR2):c.4885T>C (p.Ser1629Pro)
|
rs1435195421
|
|
|
NM_001035.3(RYR2):c.4886C>A (p.Ser1629Tyr)
|
rs763623545
|
|
|
NM_001035.3(RYR2):c.4887T>C (p.Ser1629=)
|
rs1677791334
|
|
|
NM_001035.3(RYR2):c.4889T>C (p.Leu1630Pro)
|
rs1677791612
|
|
|
NM_001035.3(RYR2):c.4893T>C (p.His1631=)
|
rs2148574360
|
|
|
NM_001035.3(RYR2):c.48T>C (p.Thr16=)
|
|
|
|
NM_001035.3(RYR2):c.49-9C>T
|
|
|
|
NM_001035.3(RYR2):c.4910+3C>G
|
rs757198624
|
|
|
NM_001035.3(RYR2):c.4910+4A>G
|
|
|
|
NM_001035.3(RYR2):c.4911-10C>T
|
rs762641238
|
|
|
NM_001035.3(RYR2):c.4929G>T (p.Glu1643Asp)
|
rs1573122061
|
|
|
NM_001035.3(RYR2):c.4937A>G (p.Glu1646Gly)
|
rs1678196776
|
|
|
NM_001035.3(RYR2):c.4944G>C (p.Glu1648Asp)
|
rs1394657369
|
|
|
NM_001035.3(RYR2):c.4949del (p.Leu1650fs)
|
|
|
|
NM_001035.3(RYR2):c.4953G>A (p.Leu1651=)
|
rs2148593312
|
|
|
NM_001035.3(RYR2):c.4962C>T (p.His1654=)
|
rs1678199845
|
|
|
NM_001035.3(RYR2):c.4976G>A (p.Arg1659Gln)
|
rs1281673231
|
|
|
NM_001035.3(RYR2):c.4989C>A (p.Ala1663=)
|
rs147060179
|
|
|
NM_001035.3(RYR2):c.4990G>A (p.Val1664Ile)
|
rs749434532
|
|
|
NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe)
|
rs749434532
|
|
|
NM_001035.3(RYR2):c.4991T>A (p.Val1664Asp)
|
rs878854158
|
|
|
NM_001035.3(RYR2):c.4G>T (p.Ala2Ser)
|
rs1660032942
|
|
|
NM_001035.3(RYR2):c.5000T>C (p.Leu1667Pro)
|
rs1678203977
|
|
|
NM_001035.3(RYR2):c.5012G>A (p.Arg1671Gln)
|
rs777091366
|
|
|
NM_001035.3(RYR2):c.5037T>C (p.His1679=)
|
rs2148593927
|
|
|
NM_001035.3(RYR2):c.5047C>G (p.Pro1683Ala)
|
|
|
|
NM_001035.3(RYR2):c.5047C>T (p.Pro1683Ser)
|
rs766933683
|
|
|
NM_001035.3(RYR2):c.504G>A (p.Gln168=)
|
rs2149792793
|
|
|
NM_001035.3(RYR2):c.5077T>C (p.Tyr1693His)
|
rs2148594145
|
|
|
NM_001035.3(RYR2):c.5080A>G (p.Met1694Val)
|
rs1486465466
|
|
|
NM_001035.3(RYR2):c.5094G>A (p.Leu1698=)
|
rs1678213328
|
|
|
NM_001035.3(RYR2):c.5109T>C (p.Tyr1703=)
|
rs2148594404
|
|
|
NM_001035.3(RYR2):c.5117T>G (p.Leu1706Arg)
|
|
|
|
NM_001035.3(RYR2):c.5120T>G (p.Ile1707Ser)
|
rs1678215875
|
|
|
NM_001035.3(RYR2):c.5125A>C (p.Ile1709Leu)
|
rs779944369
|
|
|
NM_001035.3(RYR2):c.5125A>G (p.Ile1709Val)
|
rs779944369
|
|
|
NM_001035.3(RYR2):c.5139C>T (p.Ser1713=)
|
|
|
|
NM_001035.3(RYR2):c.5147C>T (p.Thr1716Ile)
|
|
|
|
NM_001035.3(RYR2):c.5151C>T (p.Ala1717=)
|
rs1678219670
|
|
|
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=)
|
rs114534505
|
|
|
NM_001035.3(RYR2):c.5154G>C (p.Arg1718Ser)
|
rs114534505
|
|
|
NM_001035.3(RYR2):c.5176A>G (p.Ile1726Val)
|
rs764065333
|
|
|
NM_001035.3(RYR2):c.5182C>G (p.Pro1728Ala)
|
rs1678223407
|
|
|
NM_001035.3(RYR2):c.519A>G (p.Glu173=)
|
rs1701130082
|
|
|
NM_001035.3(RYR2):c.5213T>C (p.Leu1738Pro)
|
rs1678227269
|
|
|
NM_001035.3(RYR2):c.5223T>G (p.Asp1741Glu)
|
rs1421320653
|
|
|
NM_001035.3(RYR2):c.5225A>G (p.Glu1742Gly)
|
rs751634430
|
|
|
NM_001035.3(RYR2):c.5229C>T (p.Asn1743=)
|
rs1678229985
|
|
|
NM_001035.3(RYR2):c.5241C>G (p.Gly1747=)
|
rs533362755
|
|
|
NM_001035.3(RYR2):c.5250G>A (p.Gly1750=)
|
rs1678232270
|
|
|
NM_001035.3(RYR2):c.5259C>T (p.Leu1753=)
|
rs775185381
|
|
|
NM_001035.3(RYR2):c.5271C>A (p.Leu1757=)
|
|
|
|
NM_001035.3(RYR2):c.5277A>G (p.Pro1759=)
|
rs2148595583
|
|
|
NM_001035.3(RYR2):c.5279G>C (p.Arg1760Pro)
|
rs765106198
|
|
|
NM_001035.3(RYR2):c.5285A>C (p.Gln1762Pro)
|
rs772846797
|
|
|
NM_001035.3(RYR2):c.5291C>T (p.Ser1764Phe)
|
rs1678236675
|
|
|
NM_001035.3(RYR2):c.5298C>A (p.Pro1766=)
|
|
|
|
NM_001035.3(RYR2):c.5299A>T (p.Ser1767Cys)
|
rs751819202
|
|
|
NM_001035.3(RYR2):c.5315G>T (p.Ser1772Ile)
|
rs1559116458
|
|
|
NM_001035.3(RYR2):c.5318A>G (p.Asn1773Ser)
|
rs1678240520
|
|
|
NM_001035.3(RYR2):c.5334C>T (p.Tyr1778=)
|
rs756648811
|
|
|
NM_001035.3(RYR2):c.5354A>G (p.Asp1785Gly)
|
|
|
|
NM_001035.3(RYR2):c.5407A>T (p.Ser1803Cys)
|
rs762716832
|
|
|
NM_001035.3(RYR2):c.5417C>T (p.Ala1806Val)
|
rs1415713582
|
|
|
NM_001035.3(RYR2):c.5429T>A (p.Val1810Asp)
|
rs2148596643
|
|
|
NM_001035.3(RYR2):c.5441C>A (p.Thr1814Asn)
|
|
|
|
NM_001035.3(RYR2):c.5452T>C (p.Phe1818Leu)
|
rs1678254845
|
|
|
NM_001035.3(RYR2):c.5480C>A (p.Thr1827Asn)
|
rs968046365
|
|
|
NM_001035.3(RYR2):c.5481C>T (p.Thr1827=)
|
rs1678258756
|
|
|
NM_001035.3(RYR2):c.5507A>G (p.Asn1836Ser)
|
rs1678261343
|
|
|
NM_001035.3(RYR2):c.5525T>C (p.Ile1842Thr)
|
rs1168483242
|
|
|
NM_001035.3(RYR2):c.5532G>A (p.Gln1844=)
|
rs1678264241
|
|
|
NM_001035.3(RYR2):c.5553T>C (p.Phe1851=)
|
rs75230115
|
|
|
NM_001035.3(RYR2):c.5557G>A (p.Glu1853Lys)
|
rs1226782967
|
|
|
NM_001035.3(RYR2):c.5580G>A (p.Glu1860=)
|
|
|
|
NM_001035.3(RYR2):c.5589G>A (p.Thr1863=)
|
rs778971089
|
|
|
NM_001035.3(RYR2):c.5599G>C (p.Glu1867Gln)
|
rs565583530
|
|
|
NM_001035.3(RYR2):c.5600A>G (p.Glu1867Gly)
|
rs539021736
|
|
|
NM_001035.3(RYR2):c.5611G>T (p.Asp1871Tyr)
|
rs1678273557
|
|
|
NM_001035.3(RYR2):c.5616T>C (p.Asp1872=)
|
rs765786213
|
|
|
NM_001035.3(RYR2):c.5617G>A (p.Ala1873Thr)
|
rs1312516879
|
|
|
NM_001035.3(RYR2):c.5623C>G (p.Leu1875Val)
|
rs1262621152
|
|
|
NM_001035.3(RYR2):c.5629G>A (p.Gly1877Arg)
|
|
|
|
NM_001035.3(RYR2):c.5635G>A (p.Gly1879Ser)
|
rs1678277050
|
|
|
NM_001035.3(RYR2):c.5648C>A (p.Ala1883Asp)
|
rs1678279011
|
|
|
NM_001035.3(RYR2):c.5652_5653delinsTT (p.Lys1884_Gly1885delinsAsnTrp)
|
rs2148598407
|
|
|
NM_001035.3(RYR2):c.5653G>T (p.Gly1885Trp)
|
rs200197527
|
|
|
NM_001035.3(RYR2):c.5654G>C (p.Gly1885Ala)
|
rs41315858
|
|
|
NM_001035.3(RYR2):c.5670G>A (p.Lys1890=)
|
rs779847743
|
|
|
NM_001035.3(RYR2):c.5709A>G (p.Lys1903=)
|
rs1678289690
|
|
|
NM_001035.3(RYR2):c.5752G>T (p.Val1918Phe)
|
rs912197043
|
|
|
NM_001035.3(RYR2):c.5761C>G (p.Arg1921Gly)
|
rs760010432
|
|
|
NM_001035.3(RYR2):c.577-5T>C
|
rs1237631846
|
|
|
NM_001035.3(RYR2):c.5771C>G (p.Ala1924Gly)
|
rs776358808
|
|
|
NM_001035.3(RYR2):c.5772C>T (p.Ala1924=)
|
rs1283624754
|
|
|
NM_001035.3(RYR2):c.5821C>T (p.Arg1941Cys)
|
rs754811291
|
|
|
NM_001035.3(RYR2):c.5825T>C (p.Phe1942Ser)
|
rs397516546
|
|
|
NM_001035.3(RYR2):c.5841C>T (p.Val1947=)
|
rs1487785475
|
|
|
NM_001035.3(RYR2):c.5856C>T (p.Asn1952=)
|
rs1678597000
|
|
|
NM_001035.3(RYR2):c.5857A>C (p.Met1953Leu)
|
rs1057518592
|
|
|
NM_001035.3(RYR2):c.5871C>A (p.Leu1957=)
|
rs905975703
|
|
|
NM_001035.3(RYR2):c.588T>C (p.Tyr196=)
|
rs1702022430
|
|
|
NM_001035.3(RYR2):c.5905C>T (p.Pro1969Ser)
|
|
|
|
NM_001035.3(RYR2):c.590G>A (p.Gly197Asp)
|
rs1289234815
|
|
|
NM_001035.3(RYR2):c.5911G>A (p.Glu1971Lys)
|
rs1678602218
|
|
|
NM_001035.3(RYR2):c.5916+3A>G
|
rs1678602747
|
|
|
NM_001035.3(RYR2):c.5917-12T>C
|
rs746414195
|
|
|
NM_001035.3(RYR2):c.5920A>C (p.Asn1974His)
|
rs1450235463
|
|
|
NM_001035.3(RYR2):c.5929C>A (p.Leu1977Ile)
|
rs1679353556
|
|
|
NM_001035.3(RYR2):c.5962T>C (p.Cys1988Arg)
|
|
|
|
NM_001035.3(RYR2):c.5993A>T (p.Asp1998Val)
|
|
|
|
NM_001035.3(RYR2):c.6003A>G (p.Glu2001=)
|
rs1679360695
|
|
|
NM_001035.3(RYR2):c.6005A>T (p.Asp2002Val)
|
|
|
|
NM_001035.3(RYR2):c.6007T>C (p.Leu2003=)
|
rs2148649492
|
|
|
NM_001035.3(RYR2):c.6018T>C (p.His2006=)
|
rs757380341
|
|
|
NM_001035.3(RYR2):c.6023-14T>G
|
|
|
|
NM_001035.3(RYR2):c.6023-4C>G
|
rs1679570143
|
|
|
NM_001035.3(RYR2):c.6023-8T>A
|
rs770641716
|
|
|
NM_001035.3(RYR2):c.6027T>C (p.Ile2009=)
|
|
|
|
NM_001035.3(RYR2):c.6031C>G (p.Leu2011Val)
|
rs751426174
|
|
|
NM_001035.3(RYR2):c.6033G>A (p.Leu2011=)
|
rs1679571244
|
|
|
NM_001035.3(RYR2):c.6047C>T (p.Ser2016Phe)
|
rs1304117296
|
|
|
NM_001035.3(RYR2):c.6064G>T (p.Asp2022Tyr)
|
|
|
|
NM_001035.3(RYR2):c.6077G>C (p.Arg2026Thr)
|
|
|
|
NM_001035.3(RYR2):c.6090_6092delinsTTT (p.Ser2031Phe)
|
rs1679575411
|
|
|
NM_001035.3(RYR2):c.6109A>G (p.Thr2037Ala)
|
rs1679577488
|
|
|
NM_001035.3(RYR2):c.6123G>C (p.Lys2041Asn)
|
|
|
|
NM_001035.3(RYR2):c.6134A>G (p.Glu2045Gly)
|
rs878854160
|
|
|
NM_001035.3(RYR2):c.6139C>T (p.Pro2047Ser)
|
rs781756026
|
|
|
NM_001035.3(RYR2):c.6149G>A (p.Ser2050Asn)
|
rs1679582199
|
|
|
NM_001035.3(RYR2):c.6163T>C (p.Ser2055Pro)
|
rs746490469
|
|
|
NM_001035.3(RYR2):c.6165C>G (p.Ser2055=)
|
rs2148658088
|
|
|
NM_001035.3(RYR2):c.6166+6C>T
|
rs1679584792
|
|
|
NM_001035.3(RYR2):c.6170C>T (p.Thr2057Ile)
|
rs1679842104
|
|
|
NM_001035.3(RYR2):c.6171T>G (p.Thr2057=)
|
rs2148666530
|
|
|
NM_001035.3(RYR2):c.6189T>C (p.Ser2063=)
|
rs758086889
|
|
|
NM_001035.3(RYR2):c.6201C>T (p.Val2067=)
|
rs1679845040
|
|
|
NM_001035.3(RYR2):c.6211C>T (p.Gln2071Ter)
|
|
|
|
NM_001035.3(RYR2):c.6212A>C (p.Gln2071Pro)
|
rs1426800953
|
|
|
NM_001035.3(RYR2):c.6247G>A (p.Ala2083Thr)
|
rs2148666895
|
|
|
NM_001035.3(RYR2):c.625C>A (p.Gln209Lys)
|
rs749414350
|
|
|
NM_001035.3(RYR2):c.6268C>T (p.Arg2090Trp)
|
rs1284802339
|
|
|
NM_001035.3(RYR2):c.6295G>A (p.Val2099Ile)
|
rs767569006
|
|
|
NM_001035.3(RYR2):c.6298C>A (p.Arg2100=)
|
rs753164125
|
|
|
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp)
|
rs753164125
|
|
|
NM_001035.3(RYR2):c.6307C>G (p.Pro2103Ala)
|
rs1559136427
|
|
|
NM_001035.3(RYR2):c.6313A>G (p.Thr2105Ala)
|
|
|
|
NM_001035.3(RYR2):c.6315C>G (p.Thr2105=)
|
rs1679855571
|
|
|
NM_001035.3(RYR2):c.6332T>C (p.Val2111Ala)
|
rs548415985
|
|
|
NM_001035.3(RYR2):c.6369T>C (p.Leu2123=)
|
rs1200040510
|
|
|
NM_001035.3(RYR2):c.6379C>A (p.Arg2127=)
|
|
|
|
NM_001035.3(RYR2):c.638G>A (p.Ser213Asn)
|
rs1702026122
|
|
|
NM_001035.3(RYR2):c.639C>A (p.Ser213Arg)
|
rs375180398
|
|
|
NM_001035.3(RYR2):c.6420G>A (p.Lys2140=)
|
rs2148667663
|
|
|
NM_001035.3(RYR2):c.6435A>T (p.Gly2145=)
|
rs1388675043
|
|
|
NM_001035.3(RYR2):c.643G>A (p.Ala215Thr)
|
rs1278679578
|
|
|
NM_001035.3(RYR2):c.6441-9C>G
|
rs777133390
|
|
|
NM_001035.3(RYR2):c.6458A>G (p.Lys2153Arg)
|
rs1680240587
|
|
|
NM_001035.3(RYR2):c.6506A>G (p.Glu2169Gly)
|
rs1064794183
|
|
|
NM_001035.3(RYR2):c.6510T>C (p.Thr2170=)
|
rs901453964
|
|
|
NM_001035.3(RYR2):c.652A>T (p.Ser218Cys)
|
rs1702027247
|
|
|
NM_001035.3(RYR2):c.6555+5C>A
|
|
|
|
NM_001035.3(RYR2):c.6620G>A (p.Ser2207Asn)
|
|
|
|
NM_001035.3(RYR2):c.6621T>C (p.Ser2207=)
|
rs2148700871
|
|
|
NM_001035.3(RYR2):c.6637G>T (p.Ala2213Ser)
|
rs1680569929
|
|
|
NM_001035.3(RYR2):c.6639dup (p.Met2214fs)
|
rs1680570569
|
|
|
NM_001035.3(RYR2):c.6640A>G (p.Met2214Val)
|
rs1680570773
|
|
|
NM_001035.3(RYR2):c.6656G>T (p.Ser2219Ile)
|
rs774615963
|
|
|
NM_001035.3(RYR2):c.666G>A (p.Glu222=)
|
rs2149843251
|
|
|
NM_001035.3(RYR2):c.6677G>A (p.Ser2226Asn)
|
rs1558104099
|
|
|
NM_001035.3(RYR2):c.6690C>T (p.Ala2230=)
|
rs1558107135
|
|
|
NM_001035.3(RYR2):c.6693C>T (p.Ser2231=)
|
rs1426565026
|
|
|
NM_001035.3(RYR2):c.6697G>A (p.Ala2233Thr)
|
rs1160549985
|
|
|
NM_001035.3(RYR2):c.6707G>T (p.Gly2236Val)
|
rs1553261760
|
|
|
NM_001035.3(RYR2):c.6738G>A (p.Ser2246=)
|
rs368207198
|
|
|
NM_001035.3(RYR2):c.6750T>C (p.Asn2250=)
|
rs1680724615
|
|
|
NM_001035.3(RYR2):c.6757C>T (p.Leu2253=)
|
rs876661389
|
|
|
NM_001035.3(RYR2):c.676+3A>G
|
rs1702028230
|
|
|
NM_001035.3(RYR2):c.677-11T>C
|
rs10754602
|
|
|
NM_001035.3(RYR2):c.677-3C>T
|
|
|
|
NM_001035.3(RYR2):c.677-7C>G
|
rs747407654
|
|
|
NM_001035.3(RYR2):c.677-7C>T
|
rs747407654
|
|
|
NM_001035.3(RYR2):c.6792+5G>A
|
rs1410840833
|
|
|
NM_001035.3(RYR2):c.6793-17_6793-10del
|
|
|
|
NM_001035.3(RYR2):c.6793-4G>T
|
rs568936247
|
|
|
NM_001035.3(RYR2):c.6793-7T>C
|
rs1681091789
|
|
|
NM_001035.3(RYR2):c.682C>T (p.Leu228Phe)
|
|
|
|
NM_001035.3(RYR2):c.6880G>C (p.Glu2294Gln)
|
rs1238576332
|
|
|
NM_001035.3(RYR2):c.6895C>G (p.Leu2299Val)
|
rs2148724365
|
|
|
NM_001035.3(RYR2):c.6906_6907delinsCC (p.Leu2302_Arg2303=)
|
rs2148724444
|
|
|
NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser)
|
rs2148724464
|
|
|
NM_001035.3(RYR2):c.6929-10T>C
|
rs1681168217
|
|
|
NM_001035.3(RYR2):c.6929-15C>A
|
rs757833713
|
|
|
NM_001035.3(RYR2):c.6929-8T>G
|
rs1405186238
|
|
|
NM_001035.3(RYR2):c.6929G>T (p.Gly2310Val)
|
rs1681169798
|
|
|
NM_001035.3(RYR2):c.6948T>C (p.Asn2316=)
|
|
|
|
NM_001035.3(RYR2):c.6958G>A (p.Val2320Met)
|
rs1057522884
|
|
|
NM_001035.3(RYR2):c.696T>C (p.Asp232=)
|
rs1702089378
|
|
|
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu)
|
rs727503401
|
|
|
NM_001035.3(RYR2):c.6994G>T (p.Gly2332Cys)
|
rs766508848
|
|
|
NM_001035.3(RYR2):c.7035A>T (p.Ala2345=)
|
rs1681182291
|
|
|
NM_001035.3(RYR2):c.7060G>A (p.Ala2354Thr)
|
rs773070579
|
|
|
NM_001035.3(RYR2):c.7084C>G (p.Pro2362Ala)
|
rs1681189802
|
|
|
NM_001035.3(RYR2):c.7095T>C (p.Asn2365=)
|
rs759514803
|
|
|
NM_001035.3(RYR2):c.709C>G (p.Leu237Val)
|
rs1572095614
|
|
|
NM_001035.3(RYR2):c.7102T>G (p.Ser2368Ala)
|
rs1558117178
|
|
|
NM_001035.3(RYR2):c.7105A>G (p.Ser2369Gly)
|
rs1327450246
|
|
|
NM_001035.3(RYR2):c.710T>C (p.Leu237Pro)
|
rs1400197755
|
|
|
NM_001035.3(RYR2):c.7116-15A>G
|
rs1558120605
|
|
|
NM_001035.3(RYR2):c.7116-1G>A
|
rs2148738153
|
|
|
NM_001035.3(RYR2):c.711G>C (p.Leu237=)
|
rs759018901
|
|
|
NM_001035.3(RYR2):c.7124A>G (p.Glu2375Gly)
|
rs1553264645
|
|
|
NM_001035.3(RYR2):c.7125G>A (p.Glu2375=)
|
rs1681399039
|
|
|
NM_001035.3(RYR2):c.7131G>A (p.Glu2377=)
|
rs1371982819
|
|
|
NM_001035.3(RYR2):c.7144A>G (p.Ile2382Val)
|
rs1179831023
|
|
|
NM_001035.3(RYR2):c.7146C>A (p.Ile2382=)
|
rs1459450227
|
|
|
NM_001035.3(RYR2):c.7147C>T (p.His2383Tyr)
|
rs2148738458
|
|
|
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=)
|
rs371560909
|
|
|
NM_001035.3(RYR2):c.7161G>C (p.Ala2387=)
|
rs371560909
|
|
|
NM_001035.3(RYR2):c.7165A>C (p.Met2389Leu)
|
rs746026638
|
|
|
NM_001035.3(RYR2):c.71G>A (p.Cys24Tyr)
|
rs1487597802
|
|
|
NM_001035.3(RYR2):c.7212T>C (p.Pro2404=)
|
rs377714735
|
|
|
NM_001035.3(RYR2):c.7222-10C>T
|
rs1490401101
|
|
|
NM_001035.3(RYR2):c.7222-12T>G
|
rs540308433
|
|
|
NM_001035.3(RYR2):c.7222-15T>A
|
rs1681763241
|
|
|
NM_001035.3(RYR2):c.7222-4A>G
|
rs564974610
|
|
|
NM_001035.3(RYR2):c.7232C>G (p.Ala2411Gly)
|
rs781674330
|
|
|
NM_001035.3(RYR2):c.7233C>A (p.Ala2411=)
|
rs367994477
|
|
|
NM_001035.3(RYR2):c.7236G>C (p.Gly2412=)
|
rs1553265780
|
|
|
NM_001035.3(RYR2):c.7239G>A (p.Lys2413=)
|
rs1681771237
|
|
|
NM_001035.3(RYR2):c.723G>A (p.Met241Ile)
|
rs1558733902
|
|
|
NM_001035.3(RYR2):c.7243G>A (p.Glu2415Lys)
|
rs1573300819
|
|
|
NM_001035.3(RYR2):c.728A>G (p.Glu243Gly)
|
rs753663342
|
|
|
NM_001035.3(RYR2):c.7303G>T (p.Val2435Phe)
|
rs188835713
|
|
|
NM_001035.3(RYR2):c.7306A>G (p.Ile2436Val)
|
rs1681780165
|
|
|
NM_001035.3(RYR2):c.7306A>T (p.Ile2436Phe)
|
rs1681780165
|
|
|
NM_001035.3(RYR2):c.7314C>A (p.Ile2438=)
|
rs374418643
|
|
|
NM_001035.3(RYR2):c.7314C>T (p.Ile2438=)
|
rs374418643
|
|
|
NM_001035.3(RYR2):c.7321C>G (p.Gln2441Glu)
|
rs1681782877
|
|
|
NM_001035.3(RYR2):c.7336_7337delinsAG (p.Ala2446Ser)
|
rs1681784524
|
|
|
NM_001035.3(RYR2):c.733C>G (p.Leu245Val)
|
rs2149847911
|
|
|
NM_001035.3(RYR2):c.7343-9C>T
|
rs372778902
|
|
|
NM_001035.3(RYR2):c.7360C>G (p.Pro2454Ala)
|
rs1682394014
|
|
|
NM_001035.3(RYR2):c.7360C>T (p.Pro2454Ser)
|
|
|
|
NM_001035.3(RYR2):c.7367T>A (p.Met2456Lys)
|
|
|
|
NM_001035.3(RYR2):c.7385C>A (p.Pro2462Gln)
|
rs794728757
|
|
|
NM_001035.3(RYR2):c.738T>C (p.Thr246=)
|
|
|
|
NM_001035.3(RYR2):c.739G>A (p.Val247Ile)
|
rs1261194692
|
|
|
NM_001035.3(RYR2):c.7427A>G (p.Tyr2476Cys)
|
rs1573330149
|
|
|
NM_001035.3(RYR2):c.7431G>A (p.Gly2477=)
|
rs1347991904
|
|
|
NM_001035.3(RYR2):c.7457A>G (p.His2486Arg)
|
rs1682404011
|
|
|
NM_001035.3(RYR2):c.745T>C (p.Ser249Pro)
|
|
|
|
NM_001035.3(RYR2):c.7471G>T (p.Gly2491Cys)
|
|
|
|
NM_001035.3(RYR2):c.7482A>G (p.Pro2494=)
|
rs2148790117
|
|
|
NM_001035.3(RYR2):c.7489C>T (p.Arg2497Trp)
|
rs1682407283
|
|
|
NM_001035.3(RYR2):c.7501T>G (p.Ser2501Ala)
|
rs747787121
|
|
|
NM_001035.3(RYR2):c.750A>G (p.Gly250=)
|
rs1572095976
|
|
|
NM_001035.3(RYR2):c.7513-8T>C
|
|
|
|
NM_001035.3(RYR2):c.7513-8T>G
|
rs727503402
|
|
|
NM_001035.3(RYR2):c.7524T>C (p.Ser2508=)
|
rs2148796054
|
|
|
NM_001035.3(RYR2):c.7533C>T (p.Asp2511=)
|
rs975710456
|
|
|
NM_001035.3(RYR2):c.753A>T (p.Glu251Asp)
|
rs1702095497
|
|
|
NM_001035.3(RYR2):c.7558C>A (p.Leu2520Ile)
|
rs1060500136
|
|
|
NM_001035.3(RYR2):c.755A>G (p.His252Arg)
|
rs2149848141
|
|
|
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=)
|
rs886046274
|
|
|
NM_001035.3(RYR2):c.7603T>C (p.Phe2535Leu)
|
rs2148796535
|
|
|
NM_001035.3(RYR2):c.7624G>A (p.Ala2542Thr)
|
rs373602064
|
|
|
NM_001035.3(RYR2):c.7635T>A (p.Ile2545=)
|
rs1682569340
|
|
|
NM_001035.3(RYR2):c.7645C>G (p.Leu2549Val)
|
rs1682569840
|
|
|
NM_001035.3(RYR2):c.7676G>A (p.Cys2559Tyr)
|
|
|
|
NM_001035.3(RYR2):c.769C>A (p.Arg257=)
|
rs750477551
|
|
|
NM_001035.3(RYR2):c.773+4A>G
|
rs1702097862
|
|
|
NM_001035.3(RYR2):c.774-9T>A
|
|
|
|
NM_001035.3(RYR2):c.7742G>A (p.Arg2581Lys)
|
rs1682718413
|
|
|
NM_001035.3(RYR2):c.7756C>G (p.Gln2586Glu)
|
rs1682720673
|
|
|
NM_001035.3(RYR2):c.775A>G (p.Thr259Ala)
|
rs750611654
|
|
|
NM_001035.3(RYR2):c.7763T>G (p.Leu2588Ter)
|
rs2148804017
|
|
|
NM_001035.3(RYR2):c.7774T>C (p.Leu2592=)
|
rs761019645
|
|
|
NM_001035.3(RYR2):c.778G>T (p.Val260Phe)
|
rs2150028634
|
|
|
NM_001035.3(RYR2):c.7806_7807delinsTA (p.Ala2603Thr)
|
|
|
|
NM_001035.3(RYR2):c.7806_7808delinsTGA (p.Ala2603Glu)
|
rs1682725144
|
|
|
NM_001035.3(RYR2):c.7808C>T (p.Ala2603Val)
|
rs752607318
|
|
|
NM_001035.3(RYR2):c.7825-6A>T
|
rs1683035703
|
|
|
NM_001035.3(RYR2):c.7825-9C>T
|
rs2148817318
|
|
|
NM_001035.3(RYR2):c.7874G>C (p.Gly2625Ala)
|
rs1331814541
|
|
|
NM_001035.3(RYR2):c.7903GAA[2] (p.Glu2637del)
|
rs1217786961
|
|
|
NM_001035.3(RYR2):c.7909G>C (p.Glu2637Gln)
|
rs1683044275
|
|
|
NM_001035.3(RYR2):c.7912C>T (p.Leu2638Phe)
|
rs1447771527
|
|
|
NM_001035.3(RYR2):c.7929G>A (p.Lys2643=)
|
rs758412310
|
|
|
NM_001035.3(RYR2):c.7941C>T (p.Gly2647=)
|
|
|
|
NM_001035.3(RYR2):c.7948G>A (p.Asp2650Asn)
|
rs1160002244
|
|
|
NM_001035.3(RYR2):c.7966-11A>G
|
|
|
|
NM_001035.3(RYR2):c.7980A>G (p.Glu2660=)
|
|
|
|
NM_001035.3(RYR2):c.7990C>T (p.Leu2664=)
|
rs1553270497
|
|
|
NM_001035.3(RYR2):c.8014G>C (p.Val2672Leu)
|
rs1467546989
|
|
|
NM_001035.3(RYR2):c.8017G>T (p.Ala2673Ser)
|
|
|
|
NM_001035.3(RYR2):c.8041A>G (p.Met2681Val)
|
rs768547151
|
|
|
NM_001035.3(RYR2):c.8042T>C (p.Met2681Thr)
|
rs2148823470
|
|
|
NM_001035.3(RYR2):c.8047T>G (p.Ser2683Ala)
|
rs2148823483
|
|
|
NM_001035.3(RYR2):c.8076G>A (p.Gln2692=)
|
rs1425029026
|
|
|
NM_001035.3(RYR2):c.8103T>C (p.Phe2701=)
|
|
|
|
NM_001035.3(RYR2):c.8113C>T (p.Pro2705Ser)
|
rs1683205763
|
|
|
NM_001035.3(RYR2):c.8123C>A (p.Thr2708Asn)
|
rs1683206930
|
|
|
NM_001035.3(RYR2):c.8130-12C>A
|
rs1683411144
|
|
|
NM_001035.3(RYR2):c.8130-12C>T
|
|
|
|
NM_001035.3(RYR2):c.8130-3T>C
|
rs1573377958
|
|
|
NM_001035.3(RYR2):c.8151G>A (p.Leu2717=)
|
rs1361143892
|
|
|
NM_001035.3(RYR2):c.815G>A (p.Arg272His)
|
rs377368967
|
|
|
NM_001035.3(RYR2):c.8166C>T (p.Asn2722=)
|
|
|
|
NM_001035.3(RYR2):c.8168A>G (p.Lys2723Arg)
|
|
|
|
NM_001035.3(RYR2):c.8179C>T (p.His2727Tyr)
|
|
|
|
NM_001035.3(RYR2):c.8183C>G (p.Ser2728Cys)
|
rs768193177
|
|
|
NM_001035.3(RYR2):c.8200A>G (p.Met2734Val)
|
rs1683418170
|
|
|
NM_001035.3(RYR2):c.8209-7_8209-4del
|
rs876657992
|
|
|
NM_001035.3(RYR2):c.8218G>A (p.Gly2740Arg)
|
rs1558161320
|
|
|
NM_001035.3(RYR2):c.8240A>T (p.Tyr2747Phe)
|
rs1558161375
|
|
|
NM_001035.3(RYR2):c.824G>A (p.Trp275Ter)
|
rs2150028964
|
|
|
NM_001035.3(RYR2):c.8262G>T (p.Gln2754His)
|
rs773748242
|
|
|
NM_001035.3(RYR2):c.8265A>C (p.Pro2755=)
|
rs1683623185
|
|
|
NM_001035.3(RYR2):c.8274G>A (p.Lys2758=)
|
rs1035038004
|
|
|
NM_001035.3(RYR2):c.8284C>T (p.Leu2762=)
|
rs2148841959
|
|
|
NM_001035.3(RYR2):c.8286A>G (p.Leu2762=)
|
rs747555778
|
|
|
NM_001035.3(RYR2):c.8298+5G>C
|
|
|
|
NM_001035.3(RYR2):c.8298+7del
|
|
|
|
NM_001035.3(RYR2):c.8302A>T (p.Lys2768Ter)
|
|
|
|
NM_001035.3(RYR2):c.8312A>G (p.Tyr2771Cys)
|
|
|
|
NM_001035.3(RYR2):c.8315G>A (p.Arg2772His)
|
|
|
|
NM_001035.3(RYR2):c.8315G>T (p.Arg2772Leu)
|
rs922927449
|
|
|
NM_001035.3(RYR2):c.8317T>C (p.Trp2773Arg)
|
rs1683713927
|
|
|
NM_001035.3(RYR2):c.8356G>A (p.Gly2786Ser)
|
rs933570391
|
|
|
NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr)
|
rs1419719746
|
|
|
NM_001035.3(RYR2):c.8377C>A (p.Arg2793=)
|
rs373172640
|
|
|
NM_001035.3(RYR2):c.8379G>A (p.Arg2793=)
|
|
|
|
NM_001035.3(RYR2):c.8388C>T (p.Asp2796=)
|
rs924176546
|
|
|
NM_001035.3(RYR2):c.8389A>G (p.Ser2797Gly)
|
|
|
|
NM_001035.3(RYR2):c.8397C>A (p.Ala2799=)
|
rs1683722256
|
|
|
NM_001035.3(RYR2):c.8405A>G (p.Asn2802Ser)
|
|
|
|
NM_001035.3(RYR2):c.8436G>C (p.Gln2812His)
|
rs1683728001
|
|
|
NM_001035.3(RYR2):c.8437-7G>A
|
|
|
|
NM_001035.3(RYR2):c.8437-7G>C
|
rs770428535
|
|
|
NM_001035.3(RYR2):c.8451T>C (p.Ala2817=)
|
rs1684342209
|
|
|
NM_001035.3(RYR2):c.8454C>T (p.Ala2818=)
|
rs916645207
|
|
|
NM_001035.3(RYR2):c.8467C>T (p.Pro2823Ser)
|
rs2148872770
|
|
|
NM_001035.3(RYR2):c.8471G>A (p.Arg2824Gln)
|
|
|
|
NM_001035.3(RYR2):c.848+1G>C
|
rs772984053
|
|
|
NM_001035.3(RYR2):c.848+1del
|
|
|
|
NM_001035.3(RYR2):c.849-14A>G
|
|
|
|
NM_001035.3(RYR2):c.849-15A>C
|
|
|
|
NM_001035.3(RYR2):c.849-15_849-12del
|
rs1705757186
|
|
|
NM_001035.3(RYR2):c.8513A>T (p.His2838Leu)
|
|
|
|
NM_001035.3(RYR2):c.8514+1G>A
|
|
|
|
NM_001035.3(RYR2):c.8527A>G (p.Met2843Val)
|
rs1479028509
|
|
|
NM_001035.3(RYR2):c.8528T>C (p.Met2843Thr)
|
rs1259507136
|
|
|
NM_001035.3(RYR2):c.8538A>G (p.Glu2846=)
|
rs1187397798
|
|
|
NM_001035.3(RYR2):c.8542T>C (p.Tyr2848His)
|
rs1684465869
|
|
|
NM_001035.3(RYR2):c.854G>A (p.Ser285Asn)
|
rs1342435908
|
|
|
NM_001035.3(RYR2):c.8552T>C (p.Ile2851Thr)
|
|
|
|
NM_001035.3(RYR2):c.8562G>T (p.Lys2854Asn)
|
|
|
|
NM_001035.3(RYR2):c.8562del (p.Lys2856fs)
|
|
|
|
NM_001035.3(RYR2):c.856G>A (p.Gly286Arg)
|
rs1705760567
|
|
|
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del)
|
rs794728835
|
|
|
NM_001035.3(RYR2):c.8590+6A>G
|
rs1684469954
|
|
|
NM_001035.3(RYR2):c.8591-7C>A
|
rs1685185342
|
|
|
NM_001035.3(RYR2):c.8591-7_8591-2del
|
|
|
|
NM_001035.3(RYR2):c.8591G>A (p.Gly2864Glu)
|
rs1186402933
|
|
|
NM_001035.3(RYR2):c.8596_8598del
|
rs794728836
|
|
|
NM_001035.3(RYR2):c.8599A>C (p.Asn2867His)
|
rs1685187563
|
|
|
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser)
|
rs1031049689
|
|
|
NM_001035.3(RYR2):c.8620T>C (p.Tyr2874His)
|
|
|
|
NM_001035.3(RYR2):c.8643G>A (p.Glu2881=)
|
rs749903392
|
|
|
NM_001035.3(RYR2):c.8665G>A (p.Ala2889Thr)
|
rs905023076
|
|
|
NM_001035.3(RYR2):c.8680A>C (p.Lys2894Gln)
|
rs2148909005
|
|
|
NM_001035.3(RYR2):c.8688G>A (p.Leu2896=)
|
rs754808907
|
|
|
NM_001035.3(RYR2):c.869G>T (p.Arg290Ile)
|
rs1705760982
|
|
|
NM_001035.3(RYR2):c.86A>G (p.His29Arg)
|
|
|
|
NM_001035.3(RYR2):c.8715-4C>G
|
rs1024126701
|
|
|
NM_001035.3(RYR2):c.8715-5T>C
|
rs1685249076
|
|
|
NM_001035.3(RYR2):c.8755A>G (p.Lys2919Glu)
|
|
|
|
NM_001035.3(RYR2):c.8757A>G (p.Lys2919=)
|
rs1685252629
|
|
|
NM_001035.3(RYR2):c.8758C>A (p.Arg2920=)
|
|
|
|
NM_001035.3(RYR2):c.8759G>C (p.Arg2920Pro)
|
rs756302327
|
|
|
NM_001035.3(RYR2):c.8773T>G (p.Phe2925Val)
|
rs2148911735
|
|
|
NM_001035.3(RYR2):c.8792G>A (p.Arg2931His)
|
rs905226907
|
|
|
NM_001035.3(RYR2):c.8818_8819del (p.Ile2940fs)
|
rs1573467034
|
|
|
NM_001035.3(RYR2):c.882A>G (p.Pro294=)
|
rs1553446366
|
|
|
NM_001035.3(RYR2):c.8838C>T (p.Gly2946=)
|
rs758912397
|
|
|
NM_001035.3(RYR2):c.8840G>A (p.Ser2947Asn)
|
rs1685553588
|
|
|
NM_001035.3(RYR2):c.8845G>A (p.Gly2949Ser)
|
rs1405204144
|
|
|
NM_001035.3(RYR2):c.8846G>T (p.Gly2949Val)
|
rs1399706297
|
|
|
NM_001035.3(RYR2):c.8867A>G (p.Tyr2956Cys)
|
rs1685555977
|
|
|
NM_001035.3(RYR2):c.8871A>G (p.Glu2957=)
|
|
|
|
NM_001035.3(RYR2):c.8895+6G>T
|
rs1419551037
|
|
|
NM_001035.3(RYR2):c.8898C>T (p.Val2966=)
|
rs766514100
|
|
|
NM_001035.3(RYR2):c.8919G>A (p.Gln2973=)
|
rs1281776816
|
|
|
NM_001035.3(RYR2):c.8927A>G (p.Lys2976Arg)
|
rs1558206523
|
|
|
NM_001035.3(RYR2):c.8973C>T (p.Cys2991=)
|
rs768708117
|
|
|
NM_001035.3(RYR2):c.8984A>G (p.His2995Arg)
|
rs1685783884
|
|
|
NM_001035.3(RYR2):c.9017+6C>T
|
rs1685786232
|
|
|
NM_001035.3(RYR2):c.9044T>C (p.Val3015Ala)
|
rs1686531122
|
|
|
NM_001035.3(RYR2):c.9046A>G (p.Arg3016Gly)
|
rs2148969159
|
|
|
NM_001035.3(RYR2):c.9055A>C (p.Ile3019Leu)
|
rs1686532487
|
|
|
NM_001035.3(RYR2):c.905C>T (p.Thr302Ile)
|
rs1705765771
|
|
|
NM_001035.3(RYR2):c.9068-3T>C
|
rs1273937983
|
|
|
NM_001035.3(RYR2):c.9068-7T>A
|
rs1687728418
|
|
|
NM_001035.3(RYR2):c.9068-7T>C
|
rs1687728418
|
|
|
NM_001035.3(RYR2):c.906A>G (p.Thr302=)
|
rs569242793
|
|
|
NM_001035.3(RYR2):c.9080C>T (p.Thr3027Ile)
|
rs1400166034
|
|
|
NM_001035.3(RYR2):c.90A>G (p.Lys30=)
|
rs1366634657
|
|
|
NM_001035.3(RYR2):c.9105T>C (p.Ile3035=)
|
rs1687732005
|
|
|
NM_001035.3(RYR2):c.9125C>A (p.Ala3042Glu)
|
rs794728762
|
|
|
NM_001035.3(RYR2):c.9128+2T>C
|
|
|
|
NM_001035.3(RYR2):c.9129-3T>C
|
rs1687846777
|
|
|
NM_001035.3(RYR2):c.9129-7T>G
|
rs1466669135
|
|
|
NM_001035.3(RYR2):c.912A>G (p.Lys304=)
|
rs1705766888
|
|
|
NM_001035.3(RYR2):c.9144T>C (p.Thr3048=)
|
rs775722742
|
|
|
NM_001035.3(RYR2):c.9150G>A (p.Leu3050=)
|
rs1473395715
|
|
|
NM_001035.3(RYR2):c.9166G>T (p.Ala3056Ser)
|
rs868335612
|
|
|
NM_001035.3(RYR2):c.9174A>G (p.Arg3058=)
|
rs1050820001
|
|
|
NM_001035.3(RYR2):c.9176C>G (p.Ala3059Gly)
|
rs1687852457
|
|
|
NM_001035.3(RYR2):c.919A>T (p.Ser307Cys)
|
rs1705767586
|
|
|
NM_001035.3(RYR2):c.9211A>T (p.Thr3071Ser)
|
rs1208471339
|
|
|
NM_001035.3(RYR2):c.9214A>G (p.Met3072Val)
|
|
|
|
NM_001035.3(RYR2):c.9246C>A (p.His3082Gln)
|
rs1409285303
|
|
|
NM_001035.3(RYR2):c.924C>T (p.Leu308=)
|
rs1705767787
|
|
|
NM_001035.3(RYR2):c.9250C>G (p.Arg3084Gly)
|
|
|
|
NM_001035.3(RYR2):c.9263A>G (p.Lys3088Arg)
|
rs1687859662
|
|
|
NM_001035.3(RYR2):c.9296T>C (p.Val3099Ala)
|
rs1687862870
|
|
|
NM_001035.3(RYR2):c.9300C>T (p.Ala3100=)
|
rs758695855
|
|
|
NM_001035.3(RYR2):c.9310A>G (p.Met3104Val)
|
rs1289777181
|
|
|
NM_001035.3(RYR2):c.9312G>A (p.Met3104Ile)
|
rs1687864137
|
|
|
NM_001035.3(RYR2):c.9317_9318delinsTG (p.Ser3106Leu)
|
rs1687864745
|
|
|
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)
|
rs2797436
|
|
|
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=)
|
rs2797436
|
|
|
NM_001035.3(RYR2):c.9333T>C (p.His3111=)
|
rs965167497
|
|
|
NM_001035.3(RYR2):c.9336T>C (p.Ile3112=)
|
rs748626622
|
|
|
NM_001035.3(RYR2):c.9370G>A (p.Glu3124Lys)
|
|
|
|
NM_001035.3(RYR2):c.9389G>A (p.Cys3130Tyr)
|
|
|
|
NM_001035.3(RYR2):c.9392A>G (p.Tyr3131Cys)
|
rs1342384519
|
|
|
NM_001035.3(RYR2):c.9402G>C (p.Leu3134=)
|
rs1688007851
|
|
|
NM_001035.3(RYR2):c.9405_9406delinsAG (p.Ser3136Gly)
|
|
|
|
NM_001035.3(RYR2):c.9406A>T (p.Ser3136Cys)
|
|
|
|
NM_001035.3(RYR2):c.9410T>C (p.Leu3137Ser)
|
rs1558249705
|
|
|
NM_001035.3(RYR2):c.9412T>C (p.Tyr3138His)
|
rs794728765
|
|
|
NM_001035.3(RYR2):c.9415G>T (p.Ala3139Ser)
|
|
|
|
NM_001035.3(RYR2):c.942_944del (p.Leu316del)
|
rs749937926
|
|
|
NM_001035.3(RYR2):c.9434G>T (p.Ser3145Ile)
|
rs1688011604
|
|
|
NM_001035.3(RYR2):c.9449+6A>G
|
rs2149038687
|
|
|
NM_001035.3(RYR2):c.9467G>T (p.Gly3156Val)
|
rs1688273617
|
|
|
NM_001035.3(RYR2):c.9487G>T (p.Ala3163Ser)
|
rs1688275641
|
|
|
NM_001035.3(RYR2):c.9490G>C (p.Gly3164Arg)
|
rs1558255229
|
|
|
NM_001035.3(RYR2):c.9503T>C (p.Val3168Ala)
|
rs771061334
|
|
|
NM_001035.3(RYR2):c.9526G>T (p.Asp3176Tyr)
|
rs761272070
|
|
|
NM_001035.3(RYR2):c.9561G>T (p.Lys3187Asn)
|
rs1060500168
|
|
|
NM_001035.3(RYR2):c.9567A>T (p.Ser3189=)
|
rs1688283039
|
|
|
NM_001035.3(RYR2):c.957A>G (p.Lys319=)
|
|
|
|
NM_001035.3(RYR2):c.9581-14A>G
|
rs1688430201
|
|
|
NM_001035.3(RYR2):c.9581-3C>T
|
rs780244775
|
|
|
NM_001035.3(RYR2):c.9587G>T (p.Ser3196Ile)
|
rs1250418772
|
|
|
NM_001035.3(RYR2):c.9598A>G (p.Asn3200Asp)
|
rs769276954
|
|
|
NM_001035.3(RYR2):c.9599A>C (p.Asn3200Thr)
|
rs1688433173
|
|
|
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)
|
rs762549821
|
|
|
NM_001035.3(RYR2):c.9611T>C (p.Val3204Ala)
|
rs2149058128
|
|
|
NM_001035.3(RYR2):c.9618A>C (p.Pro3206=)
|
rs1314966595
|
|
|
NM_001035.3(RYR2):c.9640C>G (p.Leu3214Val)
|
rs1688436305
|
|
|
NM_001035.3(RYR2):c.9645G>A (p.Met3215Ile)
|
rs1688437148
|
|
|
NM_001035.3(RYR2):c.9654C>T (p.Ile3218=)
|
rs1472161324
|
|
|
NM_001035.3(RYR2):c.9671C>T (p.Ser3224Phe)
|
rs1688439810
|
|
|
NM_001035.3(RYR2):c.9674G>T (p.Gly3225Val)
|
rs1409242852
|
|
|
NM_001035.3(RYR2):c.9679C>A (p.Arg3227Ser)
|
|
|
|
NM_001035.3(RYR2):c.9694C>T (p.Pro3232Ser)
|
rs1688442582
|
|
|
NM_001035.3(RYR2):c.9696A>G (p.Pro3232=)
|
rs1688442797
|
|
|
NM_001035.3(RYR2):c.9698A>G (p.His3233Arg)
|
rs1386204884
|
|
|
NM_001035.3(RYR2):c.9699T>C (p.His3233=)
|
|
|
|
NM_001035.3(RYR2):c.9703A>T (p.Met3235Leu)
|
rs773957909
|
|
|
NM_001035.3(RYR2):c.9705G>A (p.Met3235Ile)
|
rs1009977437
|
|
|
NM_001035.3(RYR2):c.9712A>G (p.Ile3238Val)
|
rs1688445035
|
|
|
NM_001035.3(RYR2):c.9718C>T (p.Pro3240Ser)
|
|
|
|
NM_001035.3(RYR2):c.9745T>G (p.Trp3249Gly)
|
rs1688448137
|
|
|
NM_001035.3(RYR2):c.9807C>T (p.Asn3269=)
|
rs1553293326
|
|
|
NM_001035.3(RYR2):c.9809C>T (p.Ser3270Leu)
|
rs2149059274
|
|
|
NM_001035.3(RYR2):c.980C>G (p.Thr327Arg)
|
|
|
|
NM_001035.3(RYR2):c.9811G>A (p.Glu3271Lys)
|
rs1688453287
|
|
|
NM_001035.3(RYR2):c.9811G>C (p.Glu3271Gln)
|
|
|
|
NM_001035.3(RYR2):c.9829C>T (p.Leu3277=)
|
|
|
|
NM_001035.3(RYR2):c.982G>T (p.Ala328Ser)
|
|
|
|
NM_001035.3(RYR2):c.9839T>C (p.Ile3280Thr)
|
rs778496062
|
|
|
NM_001035.3(RYR2):c.9887T>C (p.Met3296Thr)
|
rs876661390
|
|
|
NM_001035.3(RYR2):c.9900A>G (p.Ala3300=)
|
rs749152197
|
|
|
NM_001035.3(RYR2):c.9901+3A>G
|
rs2149059841
|
|
|
NM_001035.3(RYR2):c.9951T>C (p.Thr3317=)
|
|
|
|
NM_001035.3(RYR2):c.9967A>G (p.Met3323Val)
|
rs773288086
|
|
|
NM_001035.3(RYR2):c.9988G>A (p.Ala3330Thr)
|
rs1688598517
|
|
|
NM_001035.3(RYR2):c.998C>T (p.Ser333Phe)
|
rs397516552
|
|
|
NM_001040113.2(MYH11):c.5812C>T (p.Pro1938Ser)
|
rs2039614500
|
|
|
NM_001040113.2(MYH11):c.5813C>T (p.Pro1938Leu)
|
rs765030635
|
|
|
NM_001040113.2(MYH11):c.5817C>A (p.Pro1939=)
|
rs1057524493
|
|
|
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala)
|
rs200884440
|
|
|
NM_001040113.2(MYH11):c.5818C>T (p.Pro1940Ser)
|
rs200884440
|
|
|
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)
|
rs111588143
|
|
|
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg)
|
rs111588143
|
|
|
NM_001040113.2(MYH11):c.5819C>T (p.Pro1940Leu)
|
rs111588143
|
|
|
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)
|
rs747392139
|
|
|
NM_001040113.2(MYH11):c.5833C>T (p.Gln1945Ter)
|
rs370858630
|
|
|
NM_001040113.2(MYH11):c.644C>G (p.Ser215Cys)
|
rs2042428776
|
|
|
NM_001040113.2(MYH11):c.644C>T (p.Ser215Phe)
|
|
|
|
NM_001040113.2(MYH11):c.654+1G>A
|
rs770424951
|
|
|
NM_001040113.2(MYH11):c.654C>T (p.Tyr218=)
|
rs1060500725
|
|
|
NM_001099404.2(SCN5A):c.615T>A (p.Tyr205Ter)
|
rs765669597
|
|
|
NM_001099404.2(SCN5A):c.629T>C (p.Ile210Thr)
|
rs556883304
|
|
|
NM_001099404.2(SCN5A):c.655C>T (p.Arg219Ter)
|
rs577421914
|
|
|
NM_001099404.2(SCN5A):c.656G>A (p.Arg219Gln)
|
rs756895523
|
|
|
NM_001099404.2(SCN5A):c.659C>A (p.Thr220Asn)
|
rs2062163377
|
|
|
NM_001099404.2(SCN5A):c.668T>C (p.Val223Ala)
|
rs2062163143
|
|
|
NM_001099404.2(SCN5A):c.672G>A (p.Leu224=)
|
rs1559782119
|
|
|
NM_001099404.2(SCN5A):c.688A>G (p.Ile230Val)
|
rs1458122299
|
|
|
NM_001099404.2(SCN5A):c.697A>T (p.Ile233Phe)
|
rs1167408483
|
|
|
NM_001276345.2(TNNT2):c.*2G>A
|
rs1449258380
|
|
|
NM_001276345.2(TNNT2):c.*3C>G
|
rs529731863
|
|
|
NM_001276345.2(TNNT2):c.-1C>T
|
rs776936911
|
|
|
NM_001276345.2(TNNT2):c.-5A>G
|
rs730881093
|
|
|
NM_001276345.2(TNNT2):c.102G>A (p.Gln34=)
|
rs1660032754
|
|
|
NM_001276345.2(TNNT2):c.121G>A (p.Asp41Asn)
|
rs748078123
|
|
|
NM_001276345.2(TNNT2):c.124G>A (p.Ala42Thr)
|
rs1571649102
|
|
|
NM_001276345.2(TNNT2):c.147G>A (p.Glu49=)
|
|
|
|
NM_001276345.2(TNNT2):c.148G>A (p.Glu50Lys)
|
rs1660021596
|
|
|
NM_001276345.2(TNNT2):c.163+4A>T
|
|
|
|
NM_001276345.2(TNNT2):c.163G>T (p.Glu55Ter)
|
rs730881120
|
|
|
NM_001276345.2(TNNT2):c.164-14C>A
|
|
|
|
NM_001276345.2(TNNT2):c.16G>A (p.Glu6Lys)
|
rs2102316961
|
|
|
NM_001276345.2(TNNT2):c.193G>C (p.Ala65Pro)
|
rs1659919080
|
|
|
NM_001276345.2(TNNT2):c.194C>A (p.Ala65Asp)
|
|
|
|
NM_001276345.2(TNNT2):c.199+8_199+9delinsAGCAAAGGAGGCTGAAGGAAGCAAAGGAGGCTGAAGGAAGCAAAGGAGGCTGAAGGTACC
|
rs1659917504
|
|
|
NM_001276345.2(TNNT2):c.200-12T>C
|
rs1659753065
|
|
|
NM_001276345.2(TNNT2):c.200-6C>T
|
rs1659750096
|
|
|
NM_001276345.2(TNNT2):c.207A>G (p.Pro69=)
|
rs531954320
|
|
|
NM_001276345.2(TNNT2):c.213G>A (p.Glu71=)
|
|
|
|
NM_001276345.2(TNNT2):c.216G>A (p.Glu72=)
|
rs2102273980
|
|
|
NM_001276345.2(TNNT2):c.227del (p.Lys76fs)
|
rs34008819
|
|
|
NM_001276345.2(TNNT2):c.229C>A (p.Pro77Thr)
|
|
|
|
NM_001276345.2(TNNT2):c.231C>G (p.Pro77=)
|
rs1659744526
|
|
|
NM_001276345.2(TNNT2):c.233+3G>A
|
|
|
|
NM_001276345.2(TNNT2):c.234-13C>T
|
|
|
|
NM_001276345.2(TNNT2):c.236C>G (p.Ser79Trp)
|
rs761953142
|
|
|
NM_001276345.2(TNNT2):c.236C>T (p.Ser79Leu)
|
rs761953142
|
|
|
NM_001276345.2(TNNT2):c.238T>C (p.Phe80Leu)
|
rs886039053
|
|
|
NM_001276345.2(TNNT2):c.244C>G (p.Pro82Ala)
|
|
|
|
NM_001276345.2(TNNT2):c.253G>A (p.Val85Met)
|
rs1659529300
|
|
|
NM_001276345.2(TNNT2):c.255G>T (p.Val85=)
|
rs780115529
|
|
|
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser)
|
rs397516451
|
|
|
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)
|
rs140245123
|
|
|
NM_001276345.2(TNNT2):c.270C>T (p.Pro90=)
|
rs140245123
|
|
|
NM_001276345.2(TNNT2):c.271G>A (p.Asp91Asn)
|
rs1571630555
|
|
|
NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr)
|
rs397516452
|
|
|
NM_001276345.2(TNNT2):c.282_283del (p.Arg94fs)
|
rs1259701355
|
|
|
NM_001276345.2(TNNT2):c.294+5G>A
|
rs533357783
|
|
|
NM_001276345.2(TNNT2):c.295-15G>T
|
rs1659456338
|
|
|
NM_001276345.2(TNNT2):c.295-1G>C
|
|
|
|
NM_001276345.2(TNNT2):c.295-3C>A
|
rs1659453460
|
|
|
NM_001276345.2(TNNT2):c.313A>G (p.Met105Val)
|
rs397516458
|
|
|
NM_001276345.2(TNNT2):c.321G>A (p.Lys107=)
|
rs397516459
|
|
|
NM_001276345.2(TNNT2):c.329A>G (p.Asn110Ser)
|
rs727505027
|
|
|
NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr)
|
rs1553282523
|
|
|
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile)
|
rs121964858
|
|
|
NM_001276345.2(TNNT2):c.369G>A (p.Arg123=)
|
rs1558230929
|
|
|
NM_001276345.2(TNNT2):c.374A>T (p.Lys125Ile)
|
rs1558230900
|
|
|
NM_001276345.2(TNNT2):c.375del (p.Glu126fs)
|
rs560019679
|
|
|
NM_001276345.2(TNNT2):c.395C>A (p.Ser132Tyr)
|
rs1659426786
|
|
|
NM_001276345.2(TNNT2):c.408G>C (p.Arg136Ser)
|
rs2102260528
|
|
|
NM_001276345.2(TNNT2):c.412-6_412-4del
|
rs397516462
|
|
|
NM_001276345.2(TNNT2):c.42-6T>C
|
rs1660720268
|
|
|
NM_001276345.2(TNNT2):c.423G>C (p.Arg141=)
|
rs2102253954
|
|
|
NM_001276345.2(TNNT2):c.427G>C (p.Glu143Gln)
|
rs1316344347
|
|
|
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp)
|
rs45525839
|
|
|
NM_001276345.2(TNNT2):c.432G>C (p.Arg144=)
|
|
|
|
NM_001276345.2(TNNT2):c.435C>G (p.Ala145=)
|
rs375675827
|
|
|
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=)
|
rs74315379
|
|
|
NM_001276345.2(TNNT2):c.451del (p.Arg151fs)
|
rs730881115
|
|
|
NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys)
|
rs45608937
|
|
|
NM_001276345.2(TNNT2):c.489+5G>A
|
rs1659249392
|
|
|
NM_001276345.2(TNNT2):c.490-14C>G
|
|
|
|
NM_001276345.2(TNNT2):c.4T>C (p.Ser2Pro)
|
rs765584396
|
|
|
NM_001276345.2(TNNT2):c.511G>A (p.Glu171Lys)
|
rs1659064618
|
|
|
NM_001276345.2(TNNT2):c.53-11_53-10del
|
rs764129741
|
|
|
NM_001276345.2(TNNT2):c.53-11_53-7del
|
rs45533739
|
|
|
NM_001276345.2(TNNT2):c.550AAG[2] (p.Lys186del)
|
rs1558225172
|
|
|
NM_001276345.2(TNNT2):c.564G>C (p.Leu188Phe)
|
rs201270895
|
|
|
NM_001276345.2(TNNT2):c.569A>G (p.Asn190Ser)
|
|
|
|
NM_001276345.2(TNNT2):c.570C>T (p.Asn190=)
|
rs764636823
|
|
|
NM_001276345.2(TNNT2):c.5C>T (p.Ser2Phe)
|
rs981844273
|
|
|
NM_001276345.2(TNNT2):c.601-8C>A
|
rs397516475
|
|
|
NM_001276345.2(TNNT2):c.610-10C>T
|
rs375547142
|
|
|
NM_001276345.2(TNNT2):c.610-12C>T
|
|
|
|
NM_001276345.2(TNNT2):c.610-7C>A
|
rs1658744962
|
|
|
NM_001276345.2(TNNT2):c.610-89C>T
|
rs774177832
|
|
|
NM_001276345.2(TNNT2):c.610-9A>G
|
rs939067295
|
|
|
NM_001276345.2(TNNT2):c.611C>T (p.Thr204Ile)
|
rs2102235172
|
|
|
NM_001276345.2(TNNT2):c.612A>G (p.Thr204=)
|
|
|
|
NM_001276345.2(TNNT2):c.627G>C (p.Gly209=)
|
rs1658735553
|
|
|
NM_001276345.2(TNNT2):c.634C>T (p.Gln212Ter)
|
|
|
|
NM_001276345.2(TNNT2):c.662T>G (p.Ile221Ser)
|
|
|
|
NM_001276345.2(TNNT2):c.664C>T (p.Leu222=)
|
rs2102234446
|
|
|
NM_001276345.2(TNNT2):c.679A>T (p.Lys227Ter)
|
rs397516478
|
|
|
NM_001276345.2(TNNT2):c.682G>C (p.Val228Leu)
|
rs397516479
|
|
|
NM_001276345.2(TNNT2):c.693T>C (p.Ile231=)
|
|
|
|
NM_001276345.2(TNNT2):c.709G>C (p.Asp237His)
|
rs867035950
|
|
|
NM_001276345.2(TNNT2):c.719+3G>A
|
rs111451787
|
|
|
NM_001276345.2(TNNT2):c.719+3G>T
|
rs111451787
|
|
|
NM_001276345.2(TNNT2):c.719G>A (p.Arg240Lys)
|
rs2102233852
|
|
|
NM_001276345.2(TNNT2):c.720-10G>A
|
rs2102229886
|
|
|
NM_001276345.2(TNNT2):c.720-32_720-14dup
|
|
|
|
NM_001276345.2(TNNT2):c.720-6G>T
|
rs113471285
|
|
|
NM_001276345.2(TNNT2):c.727G>A (p.Ala243Thr)
|
rs1658594625
|
|
|
NM_001276345.2(TNNT2):c.744G>A (p.Gln248=)
|
|
|
|
NM_001276345.2(TNNT2):c.747C>T (p.Ser249=)
|
rs3020555
|
|
|
NM_001276345.2(TNNT2):c.751T>C (p.Tyr251His)
|
rs1571600689
|
|
|
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)
|
rs369181536
|
|
|
NM_001276345.2(TNNT2):c.772T>C (p.Phe258Leu)
|
rs730881110
|
|
|
NM_001276345.2(TNNT2):c.772T>G (p.Phe258Val)
|
rs730881110
|
|
|
NM_001276345.2(TNNT2):c.775G>T (p.Asp259Tyr)
|
|
|
|
NM_001276345.2(TNNT2):c.776A>T (p.Asp259Val)
|
|
|
|
NM_001276345.2(TNNT2):c.789G>A (p.Lys263=)
|
rs2102228724
|
|
|
NM_001276345.2(TNNT2):c.795G>A (p.Lys265=)
|
rs1658577208
|
|
|
NM_001276345.2(TNNT2):c.811-13A>C
|
|
|
|
NM_001276345.2(TNNT2):c.811-1G>T
|
rs1658235582
|
|
|
NM_001276345.2(TNNT2):c.812T>G (p.Ile271Ser)
|
rs371384395
|
|
|
NM_001276345.2(TNNT2):c.824G>A (p.Arg275Gln)
|
rs730881125
|
|
|
NM_001276345.2(TNNT2):c.834C>T (p.Ile278=)
|
rs1278830616
|
|
|
NM_001276345.2(TNNT2):c.849A>G (p.Lys283=)
|
rs2102216749
|
|
|
NM_001276345.2(TNNT2):c.852-3C>T
|
rs749454768
|
|
|
NM_001276345.2(TNNT2):c.98-4C>G
|
rs775895925
|
|
|
NM_001276345.2(TNNT2):c.98-6C>T
|
rs1335680363
|
|
|
NM_001613.4(ACTA2):c.*5C>T
|
rs2133237611
|
|
|
NM_001613.4(ACTA2):c.*6_*38del
|
rs1845709130
|
|
|
NM_001613.4(ACTA2):c.1009C>T (p.Arg337Cys)
|
rs1845713745
|
|
|
NM_001613.4(ACTA2):c.1013A>G (p.Lys338Arg)
|
rs920243723
|
|
|
NM_001613.4(ACTA2):c.1019_1020del (p.Ser340fs)
|
rs794728034
|
|
|
NM_001613.4(ACTA2):c.1023C>T (p.Val341=)
|
rs139352781
|
|
|
NM_001613.4(ACTA2):c.102A>T (p.Pro34=)
|
rs1845999885
|
|
|
NM_001613.4(ACTA2):c.1051_1052del (p.Leu351fs)
|
rs1845712598
|
|
|
NM_001613.4(ACTA2):c.106A>G (p.Ile36Val)
|
rs1845999767
|
|
|
NM_001613.4(ACTA2):c.1089A>G (p.Glu363=)
|
rs1564641128
|
|
|
NM_001613.4(ACTA2):c.1100C>T (p.Ala367Val)
|
rs1589388776
|
|
|
NM_001613.4(ACTA2):c.1133A>G (p.Ter378=)
|
rs1845710246
|
|
|
NM_001613.4(ACTA2):c.130-14T>C
|
rs1845971846
|
|
|
NM_001613.4(ACTA2):c.13G>A (p.Glu5Lys)
|
|
|
|
NM_001613.4(ACTA2):c.141G>A (p.Val47=)
|
|
|
|
NM_001613.4(ACTA2):c.14A>C (p.Glu5Ala)
|
rs1846001785
|
|
|
NM_001613.4(ACTA2):c.166G>A (p.Val56Met)
|
|
|
|
NM_001613.4(ACTA2):c.204C>T (p.Thr68=)
|
rs1350332195
|
|
|
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu)
|
rs1060500134
|
|
|
NM_001613.4(ACTA2):c.229A>G (p.Ile77Val)
|
rs754716869
|
|
|
NM_001613.4(ACTA2):c.256A>G (p.Lys86Glu)
|
rs1845968514
|
|
|
NM_001613.4(ACTA2):c.259-11C>T
|
rs1759218378
|
|
|
NM_001613.4(ACTA2):c.259-12C>T
|
rs1411318617
|
|
|
NM_001613.4(ACTA2):c.259-1G>A
|
rs1210919054
|
|
|
NM_001613.4(ACTA2):c.259-1G>C
|
|
|
|
NM_001613.4(ACTA2):c.288T>C (p.Leu96=)
|
rs1845900856
|
|
|
NM_001613.4(ACTA2):c.318G>A (p.Leu106=)
|
rs1845900195
|
|
|
NM_001613.4(ACTA2):c.333C>T (p.Pro111=)
|
rs1845899945
|
|
|
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)
|
rs112602953
|
|
|
NM_001613.4(ACTA2):c.381G>A (p.Glu127=)
|
rs2133256510
|
|
|
NM_001613.4(ACTA2):c.399C>T (p.Ala133=)
|
rs781132665
|
|
|
NM_001613.4(ACTA2):c.435T>C (p.Tyr145=)
|
rs765374178
|
|
|
NM_001613.4(ACTA2):c.453T>C (p.Thr151=)
|
rs1845858890
|
|
|
NM_001613.4(ACTA2):c.455-3del
|
rs1409629545
|
|
|
NM_001613.4(ACTA2):c.455-9G>T
|
rs1845849136
|
|
|
NM_001613.4(ACTA2):c.459C>T (p.Ile153=)
|
rs1177449670
|
|
|
NM_001613.4(ACTA2):c.482T>A (p.Val161Asp)
|
rs1589394154
|
|
|
NM_001613.4(ACTA2):c.495C>T (p.Val165=)
|
rs1253704403
|
|
|
NM_001613.4(ACTA2):c.510C>T (p.Gly170=)
|
|
|
|
NM_001613.4(ACTA2):c.574A>G (p.Met192Val)
|
rs761222556
|
|
|
NM_001613.4(ACTA2):c.578A>G (p.Lys193Arg)
|
rs1845843832
|
|
|
NM_001613.4(ACTA2):c.586del (p.Thr196fs)
|
rs1845843384
|
|
|
NM_001613.4(ACTA2):c.593G>A (p.Arg198His)
|
rs746972765
|
|
|
NM_001613.4(ACTA2):c.616+5G>C
|
rs1845842113
|
|
|
NM_001613.4(ACTA2):c.641T>C (p.Ile214Thr)
|
rs1845812659
|
|
|
NM_001613.4(ACTA2):c.64G>A (p.Gly22Ser)
|
rs756496192
|
|
|
NM_001613.4(ACTA2):c.660T>C (p.Tyr220=)
|
rs1845812242
|
|
|
NM_001613.4(ACTA2):c.672C>T (p.Asp224=)
|
rs745719583
|
|
|
NM_001613.4(ACTA2):c.691A>G (p.Thr231Ala)
|
rs1845811593
|
|
|
NM_001613.4(ACTA2):c.698C>T (p.Ala233Val)
|
rs1845811306
|
|
|
NM_001613.4(ACTA2):c.758G>A (p.Gly253Glu)
|
rs1845810106
|
|
|
NM_001613.4(ACTA2):c.768T>C (p.Arg256=)
|
|
|
|
NM_001613.4(ACTA2):c.76G>C (p.Asp26His)
|
rs1438979811
|
|
|
NM_001613.4(ACTA2):c.78C>A (p.Asp26Glu)
|
rs141538225
|
|
|
NM_001613.4(ACTA2):c.804C>T (p.Phe268=)
|
rs1845809015
|
|
|
NM_001613.4(ACTA2):c.808G>A (p.Gly270Arg)
|
rs794728028
|
|
|
NM_001613.4(ACTA2):c.809-15G>C
|
rs1452950850
|
|
|
NM_001613.4(ACTA2):c.811A>T (p.Met271Leu)
|
rs2133246684
|
|
|
NM_001613.4(ACTA2):c.819T>G (p.Ser273=)
|
|
|
|
NM_001613.4(ACTA2):c.83C>T (p.Ala28Val)
|
rs886038855
|
|
|
NM_001613.4(ACTA2):c.843del (p.Thr280_Tyr281insTer)
|
rs1845781271
|
|
|
NM_001613.4(ACTA2):c.864T>C (p.Asp288=)
|
rs2133246505
|
|
|
NM_001613.4(ACTA2):c.873C>G (p.Ile291Met)
|
rs1233218233
|
|
|
NM_001613.4(ACTA2):c.906del (p.Gly304fs)
|
rs1564642714
|
|
|
NM_001613.4(ACTA2):c.911G>A (p.Gly304Asp)
|
rs1845779514
|
|
|
NM_001613.4(ACTA2):c.947A>T (p.Gln316Leu)
|
rs1845778165
|
|
|
NM_001613.4(ACTA2):c.951G>A (p.Lys317=)
|
|
|
|
NM_001613.4(ACTA2):c.964C>T (p.Leu322=)
|
rs1845777231
|
|
|
NM_001613.4(ACTA2):c.991-4A>C
|
rs761599964
|
|
|
NM_001943.4(DSG2):c.1015del
|
rs794728094
|
|
|
NM_001943.5(DSG2):c.*2C>G
|
|
|
|
NM_001943.5(DSG2):c.-11G>A
|
rs727504450
|
|
|
NM_001943.5(DSG2):c.-2C>T
|
rs2144276425
|
|
|
NM_001943.5(DSG2):c.-3G>A
|
rs896428658
|
|
|
NM_001943.5(DSG2):c.1006C>T (p.Leu336Phe)
|
rs1060502864
|
|
|
NM_001943.5(DSG2):c.1015-14G>C
|
rs372264627
|
|
|
NM_001943.5(DSG2):c.1015-7C>G
|
rs2073193503
|
|
|
NM_001943.5(DSG2):c.1018G>T (p.Val340Leu)
|
rs1369312425
|
|
|
NM_001943.5(DSG2):c.1019T>C (p.Val340Ala)
|
rs766760971
|
|
|
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del)
|
rs727502987
|
|
|
NM_001943.5(DSG2):c.1038G>A (p.Lys346=)
|
rs1555627111
|
|
|
NM_001943.5(DSG2):c.1042C>A (p.Leu348Ile)
|
rs1173281259
|
|
|
NM_001943.5(DSG2):c.1062C>T (p.Val354=)
|
rs369233023
|
|
|
NM_001943.5(DSG2):c.1072G>C (p.Ala358Pro)
|
rs758537946
|
|
|
NM_001943.5(DSG2):c.107A>C (p.Lys36Thr)
|
|
|
|
NM_001943.5(DSG2):c.1080T>A (p.Phe360Leu)
|
|
|
|
NM_001943.5(DSG2):c.1088C>G (p.Ser363Trp)
|
rs751527714
|
|
|
NM_001943.5(DSG2):c.10A>G (p.Ser4Gly)
|
rs1415117974
|
|
|
NM_001943.5(DSG2):c.1114C>T (p.Pro372Ser)
|
|
|
|
NM_001943.5(DSG2):c.1151A>G (p.Glu384Gly)
|
rs2073195593
|
|
|
NM_001943.5(DSG2):c.1152A>C (p.Glu384Asp)
|
rs2073195608
|
|
|
NM_001943.5(DSG2):c.1154G>A (p.Gly385Asp)
|
rs727504748
|
|
|
NM_001943.5(DSG2):c.1173C>A (p.Ser391Arg)
|
rs763242004
|
|
|
NM_001943.5(DSG2):c.1188T>C (p.Tyr396=)
|
rs751783277
|
|
|
NM_001943.5(DSG2):c.1220G>A (p.Gly407Asp)
|
rs2073196524
|
|
|
NM_001943.5(DSG2):c.1249G>A (p.Asp417Asn)
|
rs2144333116
|
|
|
NM_001943.5(DSG2):c.1256A>T (p.Asp419Val)
|
rs760135423
|
|
|
NM_001943.5(DSG2):c.1266A>G (p.Leu422=)
|
rs770359142
|
|
|
NM_001943.5(DSG2):c.1274A>G (p.His425Arg)
|
rs746180213
|
|
|
NM_001943.5(DSG2):c.1276G>A (p.Ala426Thr)
|
|
|
|
NM_001943.5(DSG2):c.1278A>G (p.Ala426=)
|
rs2073197137
|
|
|
NM_001943.5(DSG2):c.127C>T (p.His43Tyr)
|
|
|
|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
|
NM_001943.5(DSG2):c.1283A>G (p.Tyr428Cys)
|
rs2073221993
|
|
|
NM_001943.5(DSG2):c.1297G>T (p.Asp433Tyr)
|
rs938919152
|
|
|
NM_001943.5(DSG2):c.1298A>G (p.Asp433Gly)
|
|
|
|
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs)
|
rs775256998
|
|
|
NM_001943.5(DSG2):c.1355T>G (p.Leu452Arg)
|
rs763810935
|
|
|
NM_001943.5(DSG2):c.1377T>C (p.Tyr459=)
|
|
|
|
NM_001943.5(DSG2):c.1386T>C (p.Asn462=)
|
|
|
|
NM_001943.5(DSG2):c.1406T>C (p.Ile469Thr)
|
rs2073223451
|
|
|
NM_001943.5(DSG2):c.1422A>G (p.Glu474=)
|
|
|
|
NM_001943.5(DSG2):c.1423+5del
|
|
|
|
NM_001943.5(DSG2):c.1424-8_1424-7inv
|
|
|
|
NM_001943.5(DSG2):c.1435A>G (p.Lys479Glu)
|
rs779432999
|
|
|
NM_001943.5(DSG2):c.143A>G (p.Lys48Arg)
|
rs1225118377
|
|
|
NM_001943.5(DSG2):c.1447G>A (p.Gly483Ser)
|
rs886053714
|
|
|
NM_001943.5(DSG2):c.1451C>T (p.Thr484Ile)
|
rs1003784921
|
|
|
NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr)
|
rs776525113
|
|
|
NM_001943.5(DSG2):c.1475T>C (p.Ile492Thr)
|
rs2073229530
|
|
|
NM_001943.5(DSG2):c.1476C>T (p.Ile492=)
|
rs2073229563
|
|
|
NM_001943.5(DSG2):c.1487G>A (p.Cys496Tyr)
|
rs1346150383
|
|
|
NM_001943.5(DSG2):c.1504C>T (p.Pro502Ser)
|
rs774495857
|
|
|
NM_001943.5(DSG2):c.1515A>T (p.Thr505=)
|
rs2073230182
|
|
|
NM_001943.5(DSG2):c.1520G>C (p.Cys507Ser)
|
rs121913009
|
|
|
NM_001943.5(DSG2):c.1528G>A (p.Ala510Thr)
|
rs2073230343
|
|
|
NM_001943.5(DSG2):c.1537G>T (p.Val513Leu)
|
rs1325342385
|
|
|
NM_001943.5(DSG2):c.1541A>T (p.Asn514Ile)
|
rs986617814
|
|
|
NM_001943.5(DSG2):c.1546A>G (p.Thr516Ala)
|
|
|
|
NM_001943.5(DSG2):c.1548T>C (p.Thr516=)
|
rs2073230585
|
|
|
NM_001943.5(DSG2):c.1553A>G (p.Glu518Gly)
|
rs2144341749
|
|
|
NM_001943.5(DSG2):c.1562A>T (p.Asp521Val)
|
|
|
|
NM_001943.5(DSG2):c.1599C>T (p.Val533=)
|
|
|
|
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu)
|
rs368718022
|
|
|
NM_001943.5(DSG2):c.1621G>A (p.Ala541Thr)
|
|
|
|
NM_001943.5(DSG2):c.1639G>A (p.Ala547Thr)
|
|
|
|
NM_001943.5(DSG2):c.1640C>T (p.Ala547Val)
|
rs1237590165
|
|
|
NM_001943.5(DSG2):c.1642C>A (p.Arg548Ser)
|
|
|
|
NM_001943.5(DSG2):c.1652-13C>T
|
rs2073247208
|
|
|
NM_001943.5(DSG2):c.1652-5T>C
|
rs750711733
|
|
|
NM_001943.5(DSG2):c.1670A>C (p.Gln557Pro)
|
rs2073247474
|
|
|
NM_001943.5(DSG2):c.1696dup (p.Ser566fs)
|
rs2144346503
|
|
|
NM_001943.5(DSG2):c.1697G>A (p.Ser566Asn)
|
|
|
|
NM_001943.5(DSG2):c.1706A>G (p.Gln569Arg)
|
rs2073247749
|
|
|
NM_001943.5(DSG2):c.1707G>C (p.Gln569His)
|
rs370097438
|
|
|
NM_001943.5(DSG2):c.170C>T (p.Ala57Val)
|
rs756635006
|
|
|
NM_001943.5(DSG2):c.1722C>A (p.Asp574Glu)
|
rs2073247879
|
|
|
NM_001943.5(DSG2):c.1729G>A (p.Gly577Ser)
|
rs2073247973
|
|
|
NM_001943.5(DSG2):c.172C>G (p.Leu58Val)
|
rs780300040
|
|
|
NM_001943.5(DSG2):c.1730G>C (p.Gly577Ala)
|
rs1567931644
|
|
|
NM_001943.5(DSG2):c.1741C>T (p.Pro581Ser)
|
|
|
|
NM_001943.5(DSG2):c.1762C>G (p.Leu588Val)
|
rs1278145047
|
|
|
NM_001943.5(DSG2):c.1768G>C (p.Val590Leu)
|
rs2073248446
|
|
|
NM_001943.5(DSG2):c.1769T>A (p.Val590Asp)
|
rs2144346704
|
|
|
NM_001943.5(DSG2):c.177G>C (p.Arg59=)
|
rs1568104857
|
|
|
NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg)
|
rs762413624
|
|
|
NM_001943.5(DSG2):c.1845T>C (p.Ile615=)
|
rs2144346943
|
|
|
NM_001943.5(DSG2):c.1848G>A (p.Ala616=)
|
rs372349945
|
|
|
NM_001943.5(DSG2):c.1848G>C (p.Ala616=)
|
rs372349945
|
|
|
NM_001943.5(DSG2):c.1848G>T (p.Ala616=)
|
rs372349945
|
|
|
NM_001943.5(DSG2):c.1861G>A (p.Ala621Thr)
|
rs748942919
|
|
|
NM_001943.5(DSG2):c.1863C>G (p.Ala621=)
|
rs768150787
|
|
|
NM_001943.5(DSG2):c.1866T>C (p.Phe622=)
|
rs543940807
|
|
|
NM_001943.5(DSG2):c.1874T>C (p.Leu625Pro)
|
rs2073249656
|
|
|
NM_001943.5(DSG2):c.1881G>A (p.Leu627=)
|
|
|
|
NM_001943.5(DSG2):c.1882G>A (p.Val628Ile)
|
rs1330587476
|
|
|
NM_001943.5(DSG2):c.1882G>T (p.Val628Leu)
|
|
|
|
NM_001943.5(DSG2):c.1888C>T (p.Leu630Phe)
|
rs1260711208
|
|
|
NM_001943.5(DSG2):c.1894C>A (p.Leu632Met)
|
rs187508748
|
|
|
NM_001943.5(DSG2):c.1916del (p.Lys639fs)
|
|
|
|
NM_001943.5(DSG2):c.1919G>T (p.Gly640Val)
|
rs1308538646
|
|
|
NM_001943.5(DSG2):c.1942C>G (p.Pro648Ala)
|
rs2073265555
|
|
|
NM_001943.5(DSG2):c.1945G>A (p.Gly649Ser)
|
rs730880078
|
|
|
NM_001943.5(DSG2):c.1952T>C (p.Ile651Thr)
|
rs766353242
|
|
|
NM_001943.5(DSG2):c.1959G>A (p.Met653Ile)
|
rs794728088
|
|
|
NM_001943.5(DSG2):c.196A>G (p.Lys66Glu)
|
rs759603724
|
|
|
NM_001943.5(DSG2):c.1983A>C (p.Gly661=)
|
rs1419115728
|
|
|
NM_001943.5(DSG2):c.1987C>T (p.Pro663Ser)
|
rs2073266441
|
|
|
NM_001943.5(DSG2):c.1998C>T (p.Asp666=)
|
rs1012080257
|
|
|
NM_001943.5(DSG2):c.1A>C (p.Met1Leu)
|
rs2072994017
|
|
|
NM_001943.5(DSG2):c.1A>T (p.Met1Leu)
|
rs2072994017
|
|
|
NM_001943.5(DSG2):c.2000A>G (p.Lys667Arg)
|
rs2144350910
|
|
|
NM_001943.5(DSG2):c.2002-3C>T
|
|
|
|
NM_001943.5(DSG2):c.2002-7C>G
|
rs1415718078
|
|
|
NM_001943.5(DSG2):c.2006T>A (p.Val669Glu)
|
rs1036247495
|
|
|
NM_001943.5(DSG2):c.2014T>C (p.Phe672Leu)
|
rs2144352923
|
|
|
NM_001943.5(DSG2):c.2020C>T (p.Pro674Ser)
|
rs2144352935
|
|
|
NM_001943.5(DSG2):c.2026G>A (p.Asp676Asn)
|
rs2073274764
|
|
|
NM_001943.5(DSG2):c.204T>G (p.Asn68Lys)
|
rs2144314356
|
|
|
NM_001943.5(DSG2):c.2059G>T (p.Val687Leu)
|
rs2073275101
|
|
|
NM_001943.5(DSG2):c.2063G>A (p.Gly688Glu)
|
|
|
|
NM_001943.5(DSG2):c.2088G>A (p.Met696Ile)
|
rs1598823943
|
|
|
NM_001943.5(DSG2):c.20G>C (p.Arg7Pro)
|
|
|
|
NM_001943.5(DSG2):c.2115C>G (p.Val705=)
|
rs533874164
|
|
|
NM_001943.5(DSG2):c.2117A>G (p.Lys706Arg)
|
rs1244546744
|
|
|
NM_001943.5(DSG2):c.2140A>G (p.Met714Val)
|
rs2073276090
|
|
|
NM_001943.5(DSG2):c.2143G>T (p.Asp715Tyr)
|
rs2073276150
|
|
|
NM_001943.5(DSG2):c.2158G>T (p.Glu720Ter)
|
rs2144353262
|
|
|
NM_001943.5(DSG2):c.216+8del
|
rs2144314422
|
|
|
NM_001943.5(DSG2):c.2169C>T (p.Ser723=)
|
rs2073276369
|
|
|
NM_001943.5(DSG2):c.216G>T (p.Lys72Asn)
|
rs2073118602
|
|
|
NM_001943.5(DSG2):c.217-2A>G
|
rs2144315483
|
|
|
NM_001943.5(DSG2):c.217-4T>G
|
|
|
|
NM_001943.5(DSG2):c.2172G>A (p.Leu724=)
|
rs1230504092
|
|
|
NM_001943.5(DSG2):c.2178T>C (p.Ser726=)
|
rs749897373
|
|
|
NM_001943.5(DSG2):c.2181del (p.Arg728fs)
|
|
|
|
NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala)
|
rs780650226
|
|
|
NM_001943.5(DSG2):c.21C>T (p.Arg7=)
|
|
|
|
NM_001943.5(DSG2):c.2214T>G (p.Ala738=)
|
rs2073276946
|
|
|
NM_001943.5(DSG2):c.2215A>C (p.Ile739Leu)
|
rs772240008
|
|
|
NM_001943.5(DSG2):c.2220G>C (p.Met740Ile)
|
rs1441469842
|
|
|
NM_001943.5(DSG2):c.2224A>G (p.Thr742Ala)
|
rs1391006811
|
|
|
NM_001943.5(DSG2):c.2235G>A (p.Thr745=)
|
rs759572082
|
|
|
NM_001943.5(DSG2):c.2242G>A (p.Ala748Thr)
|
rs763994831
|
|
|
NM_001943.5(DSG2):c.2243C>T (p.Ala748Val)
|
|
|
|
NM_001943.5(DSG2):c.2257G>T (p.Ala753Ser)
|
rs2144353551
|
|
|
NM_001943.5(DSG2):c.2264_2269dup (p.Arg755_Asp756dup)
|
rs1567933186
|
|
|
NM_001943.5(DSG2):c.2270T>C (p.Met757Thr)
|
rs876657792
|
|
|
NM_001943.5(DSG2):c.2271G>A (p.Met757Ile)
|
rs2073277708
|
|
|
NM_001943.5(DSG2):c.2276G>C (p.Gly759Ala)
|
rs2073277829
|
|
|
NM_001943.5(DSG2):c.2287G>A (p.Ala763Thr)
|
rs754351622
|
|
|
NM_001943.5(DSG2):c.22G>A (p.Ala8Thr)
|
rs2072994295
|
|
|
NM_001943.5(DSG2):c.2335-12_2335-8dup
|
rs1338727178
|
|
|
NM_001943.5(DSG2):c.2335-7A>C
|
rs528851283
|
|
|
NM_001943.5(DSG2):c.2340G>A (p.Ala780=)
|
rs375539435
|
|
|
NM_001943.5(DSG2):c.2343_2344insAAGA (p.Ser782fs)
|
rs1252006527
|
|
|
NM_001943.5(DSG2):c.2360A>C (p.Asp787Ala)
|
rs369868954
|
|
|
NM_001943.5(DSG2):c.2366A>G (p.Asn789Ser)
|
rs2073300346
|
|
|
NM_001943.5(DSG2):c.2373A>G (p.Thr791=)
|
rs2073300563
|
|
|
NM_001943.5(DSG2):c.2377A>G (p.Lys793Glu)
|
rs2073300770
|
|
|
NM_001943.5(DSG2):c.238G>A (p.Glu80Lys)
|
rs2073123125
|
|
|
NM_001943.5(DSG2):c.2419C>T (p.Leu807=)
|
rs201416898
|
|
|
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)
|
rs121913010
|
|
|
NM_001943.5(DSG2):c.2439T>C (p.Cys813=)
|
rs2144358910
|
|
|
NM_001943.5(DSG2):c.2467G>C (p.Asp823His)
|
rs2073302041
|
|
|
NM_001943.5(DSG2):c.2470C>G (p.Arg824Gly)
|
|
|
|
NM_001943.5(DSG2):c.2472C>T (p.Arg824=)
|
rs2073302212
|
|
|
NM_001943.5(DSG2):c.2481T>C (p.Asp827=)
|
rs2144359050
|
|
|
NM_001943.5(DSG2):c.2488G>T (p.Gly830Ter)
|
rs2073302369
|
|
|
NM_001943.5(DSG2):c.2501A>G (p.Lys834Arg)
|
rs2073302622
|
|
|
NM_001943.5(DSG2):c.2507T>C (p.Leu836Pro)
|
rs1425278506
|
|
|
NM_001943.5(DSG2):c.2509G>A (p.Ala837Thr)
|
rs2073302750
|
|
|
NM_001943.5(DSG2):c.250A>C (p.Lys84Gln)
|
rs2144315551
|
|
|
NM_001943.5(DSG2):c.2539A>G (p.Ile847Val)
|
|
|
|
NM_001943.5(DSG2):c.2540T>A (p.Ile847Lys)
|
|
|
|
NM_001943.5(DSG2):c.2570C>T (p.Pro857Leu)
|
rs2144359416
|
|
|
NM_001943.5(DSG2):c.2593A>C (p.Thr865Pro)
|
rs866344768
|
|
|
NM_001943.5(DSG2):c.2594C>T (p.Thr865Ile)
|
rs2073304199
|
|
|
NM_001943.5(DSG2):c.259T>C (p.Tyr87His)
|
rs2073123289
|
|
|
NM_001943.5(DSG2):c.2619A>G (p.Gln873=)
|
rs757120095
|
|
|
NM_001943.5(DSG2):c.261C>A (p.Tyr87Ter)
|
rs1175183896
|
|
|
NM_001943.5(DSG2):c.2636A>G (p.Glu879Gly)
|
|
|
|
NM_001943.5(DSG2):c.2640T>A (p.Asn880Lys)
|
rs2073304654
|
|
|
NM_001943.5(DSG2):c.2666C>T (p.Pro889Leu)
|
rs2144359792
|
|
|
NM_001943.5(DSG2):c.2696C>T (p.Ala899Val)
|
rs1446243136
|
|
|
NM_001943.5(DSG2):c.2700G>T (p.Glu900Asp)
|
rs1396387126
|
|
|
NM_001943.5(DSG2):c.2701A>C (p.Lys901Gln)
|
|
|
|
NM_001943.5(DSG2):c.2712G>A (p.Gln904=)
|
rs779837813
|
|
|
NM_001943.5(DSG2):c.2721C>T (p.Val907=)
|
rs1320628928
|
|
|
NM_001943.5(DSG2):c.2727A>C (p.Glu909Asp)
|
rs771675609
|
|
|
NM_001943.5(DSG2):c.2737T>A (p.Ser913Thr)
|
|
|
|
NM_001943.5(DSG2):c.2758G>A (p.Val920Ile)
|
rs547741894
|
|
|
NM_001943.5(DSG2):c.2766A>G (p.Thr922=)
|
rs1347885484
|
|
|
NM_001943.5(DSG2):c.2773C>T (p.Pro925Ser)
|
rs958587739
|
|
|
NM_001943.5(DSG2):c.2796T>G (p.Asn932Lys)
|
rs2073307337
|
|
|
NM_001943.5(DSG2):c.2800A>G (p.Ile934Val)
|
rs1469730786
|
|
|
NM_001943.5(DSG2):c.2800A>T (p.Ile934Leu)
|
rs1469730786
|
|
|
NM_001943.5(DSG2):c.2817del (p.Tyr940fs)
|
rs1567934773
|
|
|
NM_001943.5(DSG2):c.2823C>T (p.Val941=)
|
|
|
|
NM_001943.5(DSG2):c.2826A>G (p.Thr942=)
|
rs2073307712
|
|
|
NM_001943.5(DSG2):c.2827G>C (p.Gly943Arg)
|
rs2073307735
|
|
|
NM_001943.5(DSG2):c.2847C>T (p.Thr949=)
|
|
|
|
NM_001943.5(DSG2):c.2856C>T (p.Ile952=)
|
|
|
|
NM_001943.5(DSG2):c.2857del (p.Leu953fs)
|
rs2073308127
|
|
|
NM_001943.5(DSG2):c.2861G>A (p.Gly954Asp)
|
rs1397270448
|
|
|
NM_001943.5(DSG2):c.2863C>T (p.Pro955Ser)
|
rs763151805
|
|
|
NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs)
|
rs727502990
|
|
|
NM_001943.5(DSG2):c.2876A>G (p.Gln959Arg)
|
rs2073308326
|
|
|
NM_001943.5(DSG2):c.2877G>C (p.Gln959His)
|
|
|
|
NM_001943.5(DSG2):c.2879_2900delinsAGCTGAAGCAAG (p.Ser960fs)
|
rs2144360481
|
|
|
NM_001943.5(DSG2):c.2898G>A (p.Arg966=)
|
rs746543384
|
|
|
NM_001943.5(DSG2):c.2900T>G (p.Val967Gly)
|
rs1567934849
|
|
|
NM_001943.5(DSG2):c.2914T>C (p.Ser972Pro)
|
|
|
|
NM_001943.5(DSG2):c.2917A>G (p.Thr973Ala)
|
rs2073309041
|
|
|
NM_001943.5(DSG2):c.2919del (p.Leu974fs)
|
rs2144360666
|
|
|
NM_001943.5(DSG2):c.2929C>T (p.Gln977Ter)
|
rs2073309147
|
|
|
NM_001943.5(DSG2):c.2935T>G (p.Tyr979Asp)
|
rs2144360697
|
|
|
NM_001943.5(DSG2):c.2944G>A (p.Glu982Lys)
|
rs781744343
|
|
|
NM_001943.5(DSG2):c.2948G>A (p.Gly983Asp)
|
rs746359987
|
|
|
NM_001943.5(DSG2):c.2970A>C (p.Arg990Ser)
|
rs1380500504
|
|
|
NM_001943.5(DSG2):c.2971G>T (p.Val991Leu)
|
|
|
|
NM_001943.5(DSG2):c.2974A>G (p.Ile992Val)
|
rs933743259
|
|
|
NM_001943.5(DSG2):c.2976A>G (p.Ile992Met)
|
rs776686758
|
|
|
NM_001943.5(DSG2):c.2982T>C (p.Pro994=)
|
rs2073310013
|
|
|
NM_001943.5(DSG2):c.2984A>T (p.His995Leu)
|
rs1253735579
|
|
|
NM_001943.5(DSG2):c.299G>A (p.Gly100Asp)
|
rs1236559318
|
|
|
NM_001943.5(DSG2):c.3039C>T (p.Tyr1013=)
|
rs539821357
|
|
|
NM_001943.5(DSG2):c.303A>G (p.Ile101Met)
|
rs755433039
|
|
|
NM_001943.5(DSG2):c.3059A>G (p.Glu1020Gly)
|
rs1485010309
|
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
|
NM_001943.5(DSG2):c.305T>A (p.Phe102Tyr)
|
rs2073123855
|
|
|
NM_001943.5(DSG2):c.3061_3062dup (p.Ser1021fs)
|
rs397516706
|
|
|
NM_001943.5(DSG2):c.3075C>T (p.Pro1025=)
|
rs2073311399
|
|
|
NM_001943.5(DSG2):c.3078C>G (p.Ser1026Arg)
|
|
|
|
NM_001943.5(DSG2):c.3085G>A (p.Val1029Met)
|
rs1567935080
|
|
|
NM_001943.5(DSG2):c.3096T>G (p.Thr1032=)
|
rs2144361357
|
|
|
NM_001943.5(DSG2):c.30C>A (p.Ala10=)
|
rs1568098547
|
|
|
NM_001943.5(DSG2):c.3111del (p.Asn1037fs)
|
rs1567935108
|
|
|
NM_001943.5(DSG2):c.3147A>G (p.Arg1049=)
|
rs973445903
|
|
|
NM_001943.5(DSG2):c.314A>G (p.Asn105Ser)
|
rs2073123917
|
|
|
NM_001943.5(DSG2):c.3165dup (p.Thr1056fs)
|
rs2073312554
|
|
|
NM_001943.5(DSG2):c.3174A>G (p.Gln1058=)
|
rs2073312645
|
|
|
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr)
|
rs201786158
|
|
|
NM_001943.5(DSG2):c.3178A>G (p.Ser1060Gly)
|
rs2073312698
|
|
|
NM_001943.5(DSG2):c.3181T>A (p.Tyr1061Asn)
|
rs2073312753
|
|
|
NM_001943.5(DSG2):c.3186G>T (p.Gln1062His)
|
|
|
|
NM_001943.5(DSG2):c.3204T>G (p.Ser1068=)
|
rs2073312963
|
|
|
NM_001943.5(DSG2):c.320A>G (p.Asp107Gly)
|
rs2073123931
|
|
|
NM_001943.5(DSG2):c.3210G>T (p.Thr1070=)
|
rs771104963
|
|
|
NM_001943.5(DSG2):c.3225_3226del (p.Ser1077fs)
|
rs2144361775
|
|
|
NM_001943.5(DSG2):c.3226G>T (p.Val1076Leu)
|
rs761545577
|
|
|
NM_001943.5(DSG2):c.3230C>T (p.Ser1077Phe)
|
rs962653351
|
|
|
NM_001943.5(DSG2):c.3233G>A (p.Gly1078Glu)
|
rs1064795829
|
|
|
NM_001943.5(DSG2):c.3233G>C (p.Gly1078Ala)
|
rs1064795829
|
|
|
NM_001943.5(DSG2):c.3256C>T (p.Pro1086Ser)
|
rs2073313723
|
|
|
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val)
|
rs200264407
|
|
|
NM_001943.5(DSG2):c.3281G>A (p.Gly1094Asp)
|
rs144313973
|
|
|
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn)
|
rs386802145
|
|
|
NM_001943.5(DSG2):c.3298A>G (p.Ile1100Val)
|
rs1253268725
|
|
|
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala)
|
rs778884735
|
|
|
NM_001943.5(DSG2):c.3305C>A (p.Thr1102Lys)
|
|
|
|
NM_001943.5(DSG2):c.3306A>G (p.Thr1102=)
|
rs747930194
|
|
|
NM_001943.5(DSG2):c.3318A>C (p.Arg1106Ser)
|
rs1598827838
|
|
|
NM_001943.5(DSG2):c.3319_3321delinsATC (p.Val1107Ile)
|
rs2073314660
|
|
|
NM_001943.5(DSG2):c.3333C>G (p.Ser1111Arg)
|
rs143867223
|
|
|
NM_001943.5(DSG2):c.3340C>T (p.Gln1114Ter)
|
rs776078563
|
|
|
NM_001943.5(DSG2):c.3341A>C (p.Gln1114Pro)
|
rs2073315223
|
|
|
NM_001943.5(DSG2):c.3342_3344del (p.Gln1114del)
|
rs1203247330
|
|
|
NM_001943.5(DSG2):c.352dup (p.Asp118fs)
|
rs2073124055
|
|
|
NM_001943.5(DSG2):c.363A>G (p.Glu121=)
|
rs2144315786
|
|
|
NM_001943.5(DSG2):c.367C>T (p.Pro123Ser)
|
rs2073124113
|
|
|
NM_001943.5(DSG2):c.37C>T (p.Leu13Phe)
|
rs1276147010
|
|
|
NM_001943.5(DSG2):c.389A>G (p.Tyr130Cys)
|
rs1169078227
|
|
|
NM_001943.5(DSG2):c.38T>G (p.Leu13Arg)
|
rs1436566666
|
|
|
NM_001943.5(DSG2):c.403A>G (p.Arg135Gly)
|
rs2073125230
|
|
|
NM_001943.5(DSG2):c.404G>C (p.Arg135Thr)
|
|
|
|
NM_001943.5(DSG2):c.424C>A (p.Pro142Thr)
|
rs1005230453
|
|
|
NM_001943.5(DSG2):c.435A>G (p.Leu145=)
|
rs2073125482
|
|
|
NM_001943.5(DSG2):c.437G>A (p.Arg146His)
|
rs113451409
|
|
|
NM_001943.5(DSG2):c.445G>T (p.Val149Phe)
|
rs372606274
|
|
|
NM_001943.5(DSG2):c.45+1G>T
|
rs1568098570
|
|
|
NM_001943.5(DSG2):c.45+6T>C
|
rs2072994676
|
|
|
NM_001943.5(DSG2):c.451G>A (p.Asp151Asn)
|
rs1598810722
|
|
|
NM_001943.5(DSG2):c.46-14A>G
|
|
|
|
NM_001943.5(DSG2):c.461A>C (p.Asp154Ala)
|
rs2073125828
|
|
|
NM_001943.5(DSG2):c.463A>C (p.Asn155His)
|
rs764577709
|
|
|
NM_001943.5(DSG2):c.46A>T (p.Ile16Phe)
|
rs376660601
|
|
|
NM_001943.5(DSG2):c.471A>G (p.Pro157=)
|
|
|
|
NM_001943.5(DSG2):c.472G>A (p.Val158Met)
|
rs2144316316
|
|
|
NM_001943.5(DSG2):c.478A>G (p.Thr160Ala)
|
rs2073126133
|
|
|
NM_001943.5(DSG2):c.47T>C (p.Ile16Thr)
|
rs1478351535
|
|
|
NM_001943.5(DSG2):c.484G>T (p.Asp162Tyr)
|
|
|
|
NM_001943.5(DSG2):c.484del (p.Asp162fs)
|
rs1158782181
|
|
|
NM_001943.5(DSG2):c.496G>C (p.Gly166Arg)
|
rs2073126339
|
|
|
NM_001943.5(DSG2):c.507_509del (p.Glu170del)
|
|
|
|
NM_001943.5(DSG2):c.508G>A (p.Glu170Lys)
|
rs2144316415
|
|
|
NM_001943.5(DSG2):c.520G>T (p.Ala174Ser)
|
rs2073126518
|
|
|
NM_001943.5(DSG2):c.523+1G>A
|
rs553299589
|
|
|
NM_001943.5(DSG2):c.523+2dup
|
rs2073126642
|
|
|
NM_001943.5(DSG2):c.523+3A>G
|
rs2144316473
|
|
|
NM_001943.5(DSG2):c.524-4C>G
|
rs2144317633
|
|
|
NM_001943.5(DSG2):c.550A>G (p.Thr184Ala)
|
rs2073131261
|
|
|
NM_001943.5(DSG2):c.595A>G (p.Arg199Gly)
|
rs1178317800
|
|
|
NM_001943.5(DSG2):c.595_618del (p.Arg199_Ala206del)
|
|
|
|
NM_001943.5(DSG2):c.601G>A (p.Val201Ile)
|
rs184100321
|
|
|
NM_001943.5(DSG2):c.605C>A (p.Ser202Tyr)
|
rs2073131985
|
|
|
NM_001943.5(DSG2):c.614C>T (p.Pro205Leu)
|
rs760896926
|
|
|
NM_001943.5(DSG2):c.615T>C (p.Pro205=)
|
rs1598811341
|
|
|
NM_001943.5(DSG2):c.618T>A (p.Ala206=)
|
rs397516710
|
|
|
NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer)
|
rs1555671331
|
|
|
NM_001943.5(DSG2):c.649dup (p.Thr217fs)
|
rs1598811394
|
|
|
NM_001943.5(DSG2):c.650C>G (p.Thr217Arg)
|
|
|
|
NM_001943.5(DSG2):c.650C>T (p.Thr217Ile)
|
rs776720174
|
|
|
NM_001943.5(DSG2):c.665C>T (p.Thr222Ile)
|
rs2073132907
|
|
|
NM_001943.5(DSG2):c.669C>G (p.Thr223=)
|
|
|
|
NM_001943.5(DSG2):c.684C>T (p.Asp228=)
|
rs1568105759
|
|
|
NM_001943.5(DSG2):c.688G>A (p.Glu230Lys)
|
|
|
|
NM_001943.5(DSG2):c.691-5T>A
|
|
|
|
NM_001943.5(DSG2):c.691-9G>A
|
rs2073148352
|
|
|
NM_001943.5(DSG2):c.697A>C (p.Ser233Arg)
|
rs2073148481
|
|
|
NM_001943.5(DSG2):c.6G>T (p.Ala2=)
|
rs368809971
|
|
|
NM_001943.5(DSG2):c.710T>C (p.Leu237Ser)
|
rs1299782741
|
|
|
NM_001943.5(DSG2):c.719A>C (p.Glu240Ala)
|
rs2073148766
|
|
|
NM_001943.5(DSG2):c.748G>T (p.Asp250Tyr)
|
rs1459918321
|
|
|
NM_001943.5(DSG2):c.755C>T (p.Pro252Leu)
|
rs956696163
|
|
|
NM_001943.5(DSG2):c.781C>T (p.Arg261Cys)
|
rs146194893
|
|
|
NM_001943.5(DSG2):c.78A>G (p.Leu26=)
|
rs2073105327
|
|
|
NM_001943.5(DSG2):c.78dup (p.Gln27fs)
|
|
|
|
NM_001943.5(DSG2):c.798T>C (p.Asn266=)
|
rs2073149600
|
|
|
NM_001943.5(DSG2):c.803A>T (p.Asn268Ile)
|
rs942590973
|
|
|
NM_001943.5(DSG2):c.808C>A (p.Pro270Thr)
|
|
|
|
NM_001943.5(DSG2):c.813delinsCATT (p.Val271_Val272insIle)
|
rs2073149797
|
|
|
NM_001943.5(DSG2):c.82-2A>G
|
rs2073116488
|
|
|
NM_001943.5(DSG2):c.82-4A>G
|
rs1332379061
|
|
|
NM_001943.5(DSG2):c.828_828+2del
|
rs786204292
|
|
|
NM_001943.5(DSG2):c.829-12C>A
|
|
|
|
NM_001943.5(DSG2):c.829-15G>C
|
rs2144322515
|
|
|
NM_001943.5(DSG2):c.829-4G>A
|
rs376424003
|
|
|
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)
|
rs794728093
|
|
|
NM_001943.5(DSG2):c.834A>G (p.Glu278=)
|
rs2073150921
|
|
|
NM_001943.5(DSG2):c.838A>C (p.Met280Leu)
|
rs2073150960
|
|
|
NM_001943.5(DSG2):c.838A>G (p.Met280Val)
|
|
|
|
NM_001943.5(DSG2):c.841G>A (p.Val281Ile)
|
rs201005720
|
|
|
NM_001943.5(DSG2):c.846A>G (p.Glu282=)
|
rs752126487
|
|
|
NM_001943.5(DSG2):c.853C>G (p.Gln285Glu)
|
rs781415014
|
|
|
NM_001943.5(DSG2):c.861_862delinsTC (p.Val288Leu)
|
rs2144322697
|
|
|
NM_001943.5(DSG2):c.861_863delinsTGG (p.Val288Gly)
|
rs2073151440
|
|
|
NM_001943.5(DSG2):c.862G>C (p.Val288Leu)
|
rs780374242
|
|
|
NM_001943.5(DSG2):c.867A>T (p.Glu289Asp)
|
rs2144322724
|
|
|
NM_001943.5(DSG2):c.875G>A (p.Arg292His)
|
rs185821167
|
|
|
NM_001943.5(DSG2):c.877A>G (p.Ile293Val)
|
rs2230234
|
|
|
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)
|
rs2230234
|
|
|
NM_001943.5(DSG2):c.890A>T (p.Asp297Val)
|
rs1418275138
|
|
|
NM_001943.5(DSG2):c.891T>C (p.Asp297=)
|
rs1412667083
|
|
|
NM_001943.5(DSG2):c.893C>G (p.Ala298Gly)
|
rs1356039985
|
|
|
NM_001943.5(DSG2):c.905G>A (p.Gly302Asp)
|
rs1338174918
|
|
|
NM_001943.5(DSG2):c.90C>G (p.Ser30Arg)
|
rs2144313897
|
|
|
NM_001943.5(DSG2):c.912T>C (p.Asp304=)
|
|
|
|
NM_001943.5(DSG2):c.913A>G (p.Asn305Asp)
|
rs2073152795
|
|
|
NM_001943.5(DSG2):c.914A>G (p.Asn305Ser)
|
rs2073152820
|
|
|
NM_001943.5(DSG2):c.938C>T (p.Ala313Val)
|
rs2073153186
|
|
|
NM_001943.5(DSG2):c.988A>G (p.Asn330Asp)
|
rs1410479706
|
|
|
NM_002474.3(MYH11):c.*3A>G
|
rs2039318490
|
|
|
NM_002474.3(MYH11):c.-12C>A
|
rs763118586
|
|
|
NM_002474.3(MYH11):c.-14A>T
|
rs1555459265
|
|
|
NM_002474.3(MYH11):c.-6G>A
|
rs2151381651
|
|
|
NM_002474.3(MYH11):c.101G>A (p.Arg34Lys)
|
rs199654191
|
|
|
NM_002474.3(MYH11):c.1030C>A (p.Leu344Ile)
|
rs2042101661
|
|
|
NM_002474.3(MYH11):c.1032A>G (p.Leu344=)
|
rs112474866
|
|
|
NM_002474.3(MYH11):c.1032A>T (p.Leu344=)
|
rs112474866
|
|
|
NM_002474.3(MYH11):c.1034-15C>G
|
rs2041924862
|
|
|
NM_002474.3(MYH11):c.1038A>G (p.Ile346Met)
|
rs2041924270
|
|
|
NM_002474.3(MYH11):c.1045G>A (p.Val349Met)
|
rs1414623292
|
|
|
NM_002474.3(MYH11):c.1047G>A (p.Val349=)
|
rs765006823
|
|
|
NM_002474.3(MYH11):c.1057G>T (p.Val353Phe)
|
|
|
|
NM_002474.3(MYH11):c.1059C>T (p.Val353=)
|
|
|
|
NM_002474.3(MYH11):c.106G>A (p.Val36Ile)
|
rs959014769
|
|
|
NM_002474.3(MYH11):c.1083C>T (p.Phe361=)
|
rs1239668236
|
|
|
NM_002474.3(MYH11):c.1084A>G (p.Lys362Glu)
|
rs770277568
|
|
|
NM_002474.3(MYH11):c.1089G>A (p.Lys363=)
|
rs777252807
|
|
|
NM_002474.3(MYH11):c.1110G>A (p.Ala370=)
|
|
|
|
NM_002474.3(MYH11):c.1114A>G (p.Met372Val)
|
rs2041921713
|
|
|
NM_002474.3(MYH11):c.1119A>G (p.Pro373=)
|
rs2041921522
|
|
|
NM_002474.3(MYH11):c.1125C>T (p.Asn375=)
|
rs2041921324
|
|
|
NM_002474.3(MYH11):c.1128A>C (p.Thr376=)
|
rs2041921276
|
|
|
NM_002474.3(MYH11):c.1129+6T>C
|
rs2041920957
|
|
|
NM_002474.3(MYH11):c.1130-11T>C
|
rs2041847943
|
|
|
NM_002474.3(MYH11):c.1130-12T>C
|
|
|
|
NM_002474.3(MYH11):c.1132G>T (p.Ala378Ser)
|
rs943768534
|
|
|
NM_002474.3(MYH11):c.1147C>T (p.His383Tyr)
|
rs2041847191
|
|
|
NM_002474.3(MYH11):c.115C>A (p.Pro39Thr)
|
rs761131497
|
|
|
NM_002474.3(MYH11):c.1198C>T (p.Arg400Cys)
|
rs1179634554
|
|
|
NM_002474.3(MYH11):c.1199G>A (p.Arg400His)
|
rs767036635
|
|
|
NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr)
|
rs773998062
|
|
|
NM_002474.3(MYH11):c.1203C>T (p.Ile401=)
|
rs2041845969
|
|
|
NM_002474.3(MYH11):c.1207G>T (p.Val403Phe)
|
rs748924540
|
|
|
NM_002474.3(MYH11):c.121G>A (p.Glu41Lys)
|
|
|
|
NM_002474.3(MYH11):c.1220T>C (p.Val407Ala)
|
rs886038993
|
|
|
NM_002474.3(MYH11):c.1221_1223delinsTGG (p.Val408Gly)
|
rs2151278572
|
|
|
NM_002474.3(MYH11):c.1222G>T (p.Val408Leu)
|
rs2041845331
|
|
|
NM_002474.3(MYH11):c.1249-11delinsCCCCTGGTTC
|
rs2151277364
|
|
|
NM_002474.3(MYH11):c.1249-15G>T
|
rs886051765
|
|
|
NM_002474.3(MYH11):c.1249-7T>C
|
rs370885351
|
|
|
NM_002474.3(MYH11):c.1285T>C (p.Tyr429His)
|
rs1567736079
|
|
|
NM_002474.3(MYH11):c.1302C>T (p.Arg434=)
|
rs1486327758
|
|
|
NM_002474.3(MYH11):c.1315C>T (p.Arg439Cys)
|
rs1567736003
|
|
|
NM_002474.3(MYH11):c.1318G>A (p.Val440Met)
|
rs886038900
|
|
|
NM_002474.3(MYH11):c.1323C>A (p.Asn441Lys)
|
rs1159394998
|
|
|
NM_002474.3(MYH11):c.132C>T (p.Gly44=)
|
rs973818233
|
|
|
NM_002474.3(MYH11):c.1341C>A (p.Thr447=)
|
rs200660016
|
|
|
NM_002474.3(MYH11):c.1341C>T (p.Thr447=)
|
rs200660016
|
|
|
NM_002474.3(MYH11):c.1342del (p.His448fs)
|
rs2151277173
|
|
|
NM_002474.3(MYH11):c.1346G>A (p.Arg449Gln)
|
rs775520228
|
|
|
NM_002474.3(MYH11):c.139G>T (p.Ala47Ser)
|
|
|
|
NM_002474.3(MYH11):c.1401+4C>T
|
rs1429519076
|
|
|
NM_002474.3(MYH11):c.1402-5C>G
|
rs372223335
|
|
|
NM_002474.3(MYH11):c.1402-7T>G
|
rs1336531258
|
|
|
NM_002474.3(MYH11):c.1402-8G>C
|
rs529694413
|
|
|
NM_002474.3(MYH11):c.142G>T (p.Ala48Ser)
|
rs2151381454
|
|
|
NM_002474.3(MYH11):c.1431C>T (p.Asn477=)
|
rs753577750
|
|
|
NM_002474.3(MYH11):c.1437C>G (p.Thr479=)
|
rs2041773899
|
|
|
NM_002474.3(MYH11):c.1468_1470delinsT (p.Thr490fs)
|
|
|
|
NM_002474.3(MYH11):c.1479C>A (p.Ile493=)
|
rs2041773053
|
|
|
NM_002474.3(MYH11):c.1503C>G (p.Arg501=)
|
rs776843079
|
|
|
NM_002474.3(MYH11):c.151A>G (p.Lys51Glu)
|
rs2043951986
|
|
|
NM_002474.3(MYH11):c.1525A>G (p.Ile509Val)
|
rs1239094357
|
|
|
NM_002474.3(MYH11):c.1528G>A (p.Asp510Asn)
|
rs112553563
|
|
|
NM_002474.3(MYH11):c.154G>C (p.Glu52Gln)
|
|
|
|
NM_002474.3(MYH11):c.1553G>A (p.Cys518Tyr)
|
rs1308058516
|
|
|
NM_002474.3(MYH11):c.1559A>C (p.Glu520Ala)
|
rs2041770602
|
|
|
NM_002474.3(MYH11):c.155A>G (p.Glu52Gly)
|
rs1567211756
|
|
|
NM_002474.3(MYH11):c.1570C>T (p.Arg524Ter)
|
rs2151274829
|
|
|
NM_002474.3(MYH11):c.1575+4A>G
|
rs2041769763
|
|
|
NM_002474.3(MYH11):c.1576-14C>T
|
rs752867565
|
|
|
NM_002474.3(MYH11):c.1576-9C>T
|
rs1057521240
|
|
|
NM_002474.3(MYH11):c.1587A>C (p.Pro529=)
|
rs2041720528
|
|
|
NM_002474.3(MYH11):c.1594C>T (p.Leu532=)
|
rs2041720440
|
|
|
NM_002474.3(MYH11):c.1613A>G (p.Glu538Gly)
|
rs1421397442
|
|
|
NM_002474.3(MYH11):c.1617C>T (p.Cys539=)
|
rs2041719996
|
|
|
NM_002474.3(MYH11):c.1628A>G (p.Lys543Arg)
|
rs2151272970
|
|
|
NM_002474.3(MYH11):c.1635G>T (p.Thr545=)
|
rs773802963
|
|
|
NM_002474.3(MYH11):c.165G>C (p.Gly55=)
|
rs2043951314
|
|
|
NM_002474.3(MYH11):c.1664C>T (p.Thr555Met)
|
rs2041718828
|
|
|
NM_002474.3(MYH11):c.1668G>A (p.Glu556=)
|
rs2151272920
|
|
|
NM_002474.3(MYH11):c.167del (p.Asp56fs)
|
rs2151381426
|
|
|
NM_002474.3(MYH11):c.168T>G (p.Asp56Glu)
|
|
|
|
NM_002474.3(MYH11):c.1701G>C (p.Lys567Asn)
|
rs1415327075
|
|
|
NM_002474.3(MYH11):c.1714A>G (p.Lys572Glu)
|
|
|
|
NM_002474.3(MYH11):c.171G>A (p.Glu57=)
|
rs2043951054
|
|
|
NM_002474.3(MYH11):c.1743T>A (p.Ala581=)
|
rs2272554
|
|
|
NM_002474.3(MYH11):c.1750-15G>T
|
|
|
|
NM_002474.3(MYH11):c.1764G>C (p.Ala588=)
|
rs375133214
|
|
|
NM_002474.3(MYH11):c.1775T>G (p.Leu592Arg)
|
rs2151269020
|
|
|
NM_002474.3(MYH11):c.181G>C (p.Glu61Gln)
|
rs2043950817
|
|
|
NM_002474.3(MYH11):c.1822A>G (p.Asn608Asp)
|
rs758759408
|
|
|
NM_002474.3(MYH11):c.1864+6G>A
|
rs1567729627
|
|
|
NM_002474.3(MYH11):c.1864G>A (p.Val622Met)
|
|
|
|
NM_002474.3(MYH11):c.1868A>G (p.Asp623Gly)
|
rs751232816
|
|
|
NM_002474.3(MYH11):c.1875C>A (p.Ile625=)
|
|
|
|
NM_002474.3(MYH11):c.188T>C (p.Val63Ala)
|
rs2043950389
|
|
|
NM_002474.3(MYH11):c.1896C>T (p.Ala632=)
|
|
|
|
NM_002474.3(MYH11):c.1897A>C (p.Lys633Gln)
|
rs772309087
|
|
|
NM_002474.3(MYH11):c.1898A>G (p.Lys633Arg)
|
|
|
|
NM_002474.3(MYH11):c.1908G>C (p.Glu636Asp)
|
rs1312174913
|
|
|
NM_002474.3(MYH11):c.1922G>A (p.Ser641Asn)
|
rs2041531591
|
|
|
NM_002474.3(MYH11):c.1924G>C (p.Ala642Pro)
|
rs371750065
|
|
|
NM_002474.3(MYH11):c.1952G>A (p.Arg651His)
|
|
|
|
NM_002474.3(MYH11):c.1965G>T (p.Gln655His)
|
rs2041530068
|
|
|
NM_002474.3(MYH11):c.1981C>T (p.Leu661=)
|
rs1267658886
|
|
|
NM_002474.3(MYH11):c.1983G>A (p.Leu661=)
|
rs1001920915
|
|
|
NM_002474.3(MYH11):c.2006G>A (p.Arg669His)
|
|
|
|
NM_002474.3(MYH11):c.2013C>G (p.Thr671=)
|
rs771022751
|
|
|
NM_002474.3(MYH11):c.202A>G (p.Lys68Glu)
|
rs201872782
|
|
|
NM_002474.3(MYH11):c.2030G>A (p.Arg677His)
|
rs1478913138
|
|
|
NM_002474.3(MYH11):c.2041C>T (p.Pro681Ser)
|
rs886051763
|
|
|
NM_002474.3(MYH11):c.204G>C (p.Lys68Asn)
|
rs111777997
|
|
|
NM_002474.3(MYH11):c.2062G>C (p.Gly688Arg)
|
|
|
|
NM_002474.3(MYH11):c.2063G>C (p.Gly688Ala)
|
|
|
|
NM_002474.3(MYH11):c.2082G>C (p.Leu694=)
|
|
|
|
NM_002474.3(MYH11):c.2115G>A (p.Leu705=)
|
rs2041470250
|
|
|
NM_002474.3(MYH11):c.2157C>T (p.Ile719=)
|
rs561099193
|
|
|
NM_002474.3(MYH11):c.2166G>A (p.Gln722=)
|
rs548956512
|
|
|
NM_002474.3(MYH11):c.2174G>A (p.Arg725His)
|
|
|
|
NM_002474.3(MYH11):c.2180+2T>C
|
rs2041467979
|
|
|
NM_002474.3(MYH11):c.2181-14C>G
|
rs2151260555
|
|
|
NM_002474.3(MYH11):c.2181-3A>C
|
rs2151260542
|
|
|
NM_002474.3(MYH11):c.2181-4C>T
|
rs2041464542
|
|
|
NM_002474.3(MYH11):c.2181-7T>C
|
rs2041464605
|
|
|
NM_002474.3(MYH11):c.2195C>A (p.Ala732Glu)
|
rs764831521
|
|
|
NM_002474.3(MYH11):c.2197G>A (p.Ala733Thr)
|
rs1393414333
|
|
|
NM_002474.3(MYH11):c.2213A>C (p.Lys738Thr)
|
rs1555560379
|
|
|
NM_002474.3(MYH11):c.2216G>C (p.Gly739Ala)
|
rs771806682
|
|
|
NM_002474.3(MYH11):c.2216G>T (p.Gly739Val)
|
rs771806682
|
|
|
NM_002474.3(MYH11):c.2254A>G (p.Lys752Glu)
|
rs2041457179
|
|
|
NM_002474.3(MYH11):c.2266C>T (p.Leu756Phe)
|
|
|
|
NM_002474.3(MYH11):c.2279T>C (p.Leu760Ser)
|
rs2041456567
|
|
|
NM_002474.3(MYH11):c.2281T>C (p.Tyr761His)
|
rs935729628
|
|
|
NM_002474.3(MYH11):c.2289A>G (p.Ile763Met)
|
rs912543441
|
|
|
NM_002474.3(MYH11):c.2292G>T (p.Gly764=)
|
rs780354636
|
|
|
NM_002474.3(MYH11):c.229C>T (p.Gln77Ter)
|
rs1567211625
|
|
|
NM_002474.3(MYH11):c.22del (p.Ser8fs)
|
rs2043958603
|
|
|
NM_002474.3(MYH11):c.2320G>A (p.Val774Ile)
|
rs147897132
|
|
|
NM_002474.3(MYH11):c.2339A>C (p.Glu780Ala)
|
rs2041454597
|
|
|
NM_002474.3(MYH11):c.2344C>T (p.Arg782Ter)
|
rs777173010
|
|
|
NM_002474.3(MYH11):c.2356A>G (p.Ile786Val)
|
rs2041454061
|
|
|
NM_002474.3(MYH11):c.235A>C (p.Met79Leu)
|
rs2151381331
|
|
|
NM_002474.3(MYH11):c.2362G>A (p.Asp788Asn)
|
rs768858261
|
|
|
NM_002474.3(MYH11):c.2365G>A (p.Val789Ile)
|
|
|
|
NM_002474.3(MYH11):c.2367C>T (p.Val789=)
|
rs1555560257
|
|
|
NM_002474.3(MYH11):c.2368A>G (p.Ile790Val)
|
rs2041453442
|
|
|
NM_002474.3(MYH11):c.2383G>A (p.Ala795Thr)
|
rs2041453117
|
|
|
NM_002474.3(MYH11):c.2398T>C (p.Tyr800His)
|
rs1567723860
|
|
|
NM_002474.3(MYH11):c.2408G>A (p.Arg803Lys)
|
rs749801876
|
|
|
NM_002474.3(MYH11):c.2409A>G (p.Arg803=)
|
|
|
|
NM_002474.3(MYH11):c.2412-10C>G
|
rs2041385623
|
|
|
NM_002474.3(MYH11):c.2412-10C>T
|
rs2041385623
|
|
|
NM_002474.3(MYH11):c.2412-15T>G
|
rs373833673
|
|
|
NM_002474.3(MYH11):c.2412-8C>A
|
rs200606975
|
|
|
NM_002474.3(MYH11):c.2412-8C>T
|
rs200606975
|
|
|
NM_002474.3(MYH11):c.2412-8del
|
|
|
|
NM_002474.3(MYH11):c.2412-9C>G
|
rs148682361
|
|
|
NM_002474.3(MYH11):c.2412-9C>T
|
rs148682361
|
|
|
NM_002474.3(MYH11):c.2462G>A (p.Arg821Lys)
|
rs2151256712
|
|
|
NM_002474.3(MYH11):c.2470G>A (p.Ala824Thr)
|
|
|
|
NM_002474.3(MYH11):c.2475C>T (p.Ala825=)
|
rs886038948
|
|
|
NM_002474.3(MYH11):c.2516C>A (p.Thr839Asn)
|
rs1248564780
|
|
|
NM_002474.3(MYH11):c.2520+3G>A
|
rs750078792
|
|
|
NM_002474.3(MYH11):c.2521-10G>A
|
rs2041285746
|
|
|
NM_002474.3(MYH11):c.2521-10G>C
|
rs2041285746
|
|
|
NM_002474.3(MYH11):c.2521-12G>A
|
|
|
|
NM_002474.3(MYH11):c.2545C>T (p.Arg849Trp)
|
rs869025471
|
|
|
NM_002474.3(MYH11):c.254C>T (p.Ser85Phe)
|
rs148687580
|
|
|
NM_002474.3(MYH11):c.2561T>G (p.Met854Arg)
|
rs2041283522
|
|
|
NM_002474.3(MYH11):c.2566G>A (p.Ala856Thr)
|
|
|
|
NM_002474.3(MYH11):c.2572G>A (p.Glu858Lys)
|
rs1567718928
|
|
|
NM_002474.3(MYH11):c.2577T>C (p.Asp859=)
|
|
|
|
NM_002474.3(MYH11):c.2581C>T (p.Leu861=)
|
rs2151251202
|
|
|
NM_002474.3(MYH11):c.2587A>G (p.Lys863Glu)
|
rs2041282396
|
|
|
NM_002474.3(MYH11):c.2609A>C (p.Lys870Thr)
|
rs867202175
|
|
|
NM_002474.3(MYH11):c.2632C>A (p.Leu878Met)
|
rs2041280783
|
|
|
NM_002474.3(MYH11):c.2645A>G (p.His882Arg)
|
rs2151251073
|
|
|
NM_002474.3(MYH11):c.2653-13C>T
|
rs2151250810
|
|
|
NM_002474.3(MYH11):c.2653-15A>G
|
rs999891260
|
|
|
NM_002474.3(MYH11):c.2653-3C>T
|
rs571588512
|
|
|
NM_002474.3(MYH11):c.2653-6G>A
|
rs200637980
|
|
|
NM_002474.3(MYH11):c.2653-6G>C
|
rs200637980
|
|
|
NM_002474.3(MYH11):c.2655G>A (p.Leu885=)
|
rs760141485
|
|
|
NM_002474.3(MYH11):c.2658C>G (p.Thr886=)
|
|
|
|
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln)
|
rs762308378
|
|
|
NM_002474.3(MYH11):c.2667_2668delinsCC (p.Lys889_Asn890delinsAsnHis)
|
|
|
|
NM_002474.3(MYH11):c.2669A>C (p.Asn890Thr)
|
rs2041275775
|
|
|
NM_002474.3(MYH11):c.2673G>A (p.Leu891=)
|
rs953728514
|
|
|
NM_002474.3(MYH11):c.267C>A (p.Asp89Glu)
|
rs775840903
|
|
|
NM_002474.3(MYH11):c.267C>T (p.Asp89=)
|
rs775840903
|
|
|
NM_002474.3(MYH11):c.2681A>G (p.Glu894Gly)
|
|
|
|
NM_002474.3(MYH11):c.2699C>T (p.Thr900Ile)
|
rs866907050
|
|
|
NM_002474.3(MYH11):c.2702A>G (p.Glu901Gly)
|
rs1481169784
|
|
|
NM_002474.3(MYH11):c.2709T>C (p.Tyr903=)
|
|
|
|
NM_002474.3(MYH11):c.2724G>A (p.Glu908=)
|
rs939496859
|
|
|
NM_002474.3(MYH11):c.2728C>T (p.Arg910Trp)
|
rs2041274181
|
|
|
NM_002474.3(MYH11):c.272C>T (p.Ala91Val)
|
rs1555459204
|
|
|
NM_002474.3(MYH11):c.2741C>T (p.Ala914Val)
|
rs142128375
|
|
|
NM_002474.3(MYH11):c.2746A>G (p.Lys916Glu)
|
rs2041273210
|
|
|
NM_002474.3(MYH11):c.2747A>G (p.Lys916Arg)
|
rs1382626826
|
|
|
NM_002474.3(MYH11):c.2770C>T (p.Leu924=)
|
|
|
|
NM_002474.3(MYH11):c.2772G>A (p.Leu924=)
|
rs1470718270
|
|
|
NM_002474.3(MYH11):c.2773C>G (p.His925Asp)
|
rs756452596
|
|
|
NM_002474.3(MYH11):c.2774A>G (p.His925Arg)
|
|
|
|
NM_002474.3(MYH11):c.2813G>C (p.Gly938Ala)
|
rs2041270792
|
|
|
NM_002474.3(MYH11):c.281C>G (p.Thr94Arg)
|
rs794728681
|
|
|
NM_002474.3(MYH11):c.282G>A (p.Thr94=)
|
rs759914132
|
|
|
NM_002474.3(MYH11):c.2859+3A>G
|
rs2041269100
|
|
|
NM_002474.3(MYH11):c.285C>T (p.Cys95=)
|
rs2151381283
|
|
|
NM_002474.3(MYH11):c.2860-5C>T
|
rs1223452979
|
|
|
NM_002474.3(MYH11):c.2860-8C>A
|
rs1471253618
|
|
|
NM_002474.3(MYH11):c.2874G>A (p.Gln958=)
|
rs1224542019
|
|
|
NM_002474.3(MYH11):c.2877G>A (p.Leu959=)
|
rs2041233227
|
|
|
NM_002474.3(MYH11):c.28G>A (p.Asp10Asn)
|
|
|
|
NM_002474.3(MYH11):c.28G>T (p.Asp10Tyr)
|
rs2043958315
|
|
|
NM_002474.3(MYH11):c.2902A>G (p.Lys968Glu)
|
rs2151248150
|
|
|
NM_002474.3(MYH11):c.2919G>A (p.Lys973=)
|
|
|
|
NM_002474.3(MYH11):c.2919G>T (p.Lys973Asn)
|
rs2041231978
|
|
|
NM_002474.3(MYH11):c.291C>A (p.Asn97Lys)
|
rs113363750
|
|
|
NM_002474.3(MYH11):c.2925G>A (p.Thr975=)
|
rs566872637
|
|
|
NM_002474.3(MYH11):c.2925G>T (p.Thr975=)
|
rs566872637
|
|
|
NM_002474.3(MYH11):c.2940C>G (p.Ile980Met)
|
rs2041231212
|
|
|
NM_002474.3(MYH11):c.294A>C (p.Glu98Asp)
|
rs864309563
|
|
|
NM_002474.3(MYH11):c.2950G>C (p.Glu984Gln)
|
rs1163072851
|
|
|
NM_002474.3(MYH11):c.2952G>A (p.Glu984=)
|
rs759420838
|
|
|
NM_002474.3(MYH11):c.2970G>A (p.Met990Ile)
|
rs2041229911
|
|
|
NM_002474.3(MYH11):c.2973T>C (p.Asp991=)
|
|
|
|
NM_002474.3(MYH11):c.2981A>T (p.Asn994Ile)
|
rs1219173895
|
|
|
NM_002474.3(MYH11):c.2991A>G (p.Leu997=)
|
|
|
|
NM_002474.3(MYH11):c.2998-10C>G
|
rs2151246082
|
|
|
NM_002474.3(MYH11):c.3001C>A (p.Arg1001=)
|
rs1064795023
|
|
|
NM_002474.3(MYH11):c.3001C>T (p.Arg1001Ter)
|
rs1064795023
|
|
|
NM_002474.3(MYH11):c.3022A>T (p.Ile1008Phe)
|
rs1567715853
|
|
|
NM_002474.3(MYH11):c.3026G>C (p.Ser1009Thr)
|
|
|
|
NM_002474.3(MYH11):c.3032T>C (p.Leu1011Ser)
|
|
|
|
NM_002474.3(MYH11):c.3035C>A (p.Thr1012Lys)
|
rs373881911
|
|
|
NM_002474.3(MYH11):c.3086A>G (p.Lys1029Arg)
|
rs2041188958
|
|
|
NM_002474.3(MYH11):c.3098A>C (p.Glu1033Ala)
|
rs2041188615
|
|
|
NM_002474.3(MYH11):c.30T>C (p.Asp10=)
|
rs2043958234
|
|
|
NM_002474.3(MYH11):c.3122-9T>C
|
rs2151244378
|
|
|
NM_002474.3(MYH11):c.3122T>C (p.Val1041Ala)
|
rs2041159388
|
|
|
NM_002474.3(MYH11):c.3147C>T (p.Ser1049=)
|
rs1490973342
|
|
|
NM_002474.3(MYH11):c.3157C>T (p.Leu1053=)
|
rs12149651
|
|
|
NM_002474.3(MYH11):c.3159G>A (p.Leu1053=)
|
rs2041158194
|
|
|
NM_002474.3(MYH11):c.3166C>G (p.Leu1056Val)
|
rs2041157922
|
|
|
NM_002474.3(MYH11):c.3183G>T (p.Glu1061Asp)
|
rs2041157260
|
|
|
NM_002474.3(MYH11):c.318G>A (p.Arg106=)
|
rs747859212
|
|
|
NM_002474.3(MYH11):c.3195C>A (p.Ser1065Arg)
|
rs202136377
|
|
|
NM_002474.3(MYH11):c.3195C>T (p.Ser1065=)
|
rs202136377
|
|
|
NM_002474.3(MYH11):c.3197A>G (p.Asp1066Gly)
|
rs2041156611
|
|
|
NM_002474.3(MYH11):c.3198C>T (p.Asp1066=)
|
rs757270167
|
|
|
NM_002474.3(MYH11):c.3208C>T (p.Gln1070Ter)
|
rs2041155830
|
|
|
NM_002474.3(MYH11):c.3223C>T (p.Gln1075Ter)
|
rs2041155319
|
|
|
NM_002474.3(MYH11):c.3232A>G (p.Ile1078Val)
|
|
|
|
NM_002474.3(MYH11):c.3235G>T (p.Ala1079Ser)
|
rs140479999
|
|
|
NM_002474.3(MYH11):c.3255G>A (p.Leu1085=)
|
rs768298662
|
|
|
NM_002474.3(MYH11):c.3255G>C (p.Leu1085=)
|
rs768298662
|
|
|
NM_002474.3(MYH11):c.3256G>C (p.Ala1086Pro)
|
rs2151244086
|
|
|
NM_002474.3(MYH11):c.3258C>G (p.Ala1086=)
|
rs1387518277
|
|
|
NM_002474.3(MYH11):c.3270G>A (p.Glu1090=)
|
rs531222844
|
|
|
NM_002474.3(MYH11):c.3274C>G (p.Leu1092Val)
|
rs945042608
|
|
|
NM_002474.3(MYH11):c.3280G>A (p.Ala1094Thr)
|
rs2041152851
|
|
|
NM_002474.3(MYH11):c.3285C>T (p.Ala1095=)
|
rs142294635
|
|
|
NM_002474.3(MYH11):c.3293+6G>C
|
rs370658839
|
|
|
NM_002474.3(MYH11):c.3295C>T (p.Leu1099Phe)
|
rs757497342
|
|
|
NM_002474.3(MYH11):c.3301G>A (p.Asp1101Asn)
|
rs764532365
|
|
|
NM_002474.3(MYH11):c.3304G>A (p.Glu1102Lys)
|
rs761288871
|
|
|
NM_002474.3(MYH11):c.3315GAA[1] (p.Lys1106del)
|
|
|
|
NM_002474.3(MYH11):c.3318G>A (p.Lys1106=)
|
|
|
|
NM_002474.3(MYH11):c.3322A>G (p.Asn1108Asp)
|
rs1451959711
|
|
|
NM_002474.3(MYH11):c.333A>G (p.Ser111=)
|
rs780787780
|
|
|
NM_002474.3(MYH11):c.3341G>A (p.Arg1114Gln)
|
rs1349239463
|
|
|
NM_002474.3(MYH11):c.3358A>G (p.Ile1120Val)
|
rs886038788
|
|
|
NM_002474.3(MYH11):c.3364G>C (p.Asp1122His)
|
rs2041091293
|
|
|
NM_002474.3(MYH11):c.3375G>A (p.Glu1125=)
|
rs779019646
|
|
|
NM_002474.3(MYH11):c.3379C>T (p.Leu1127=)
|
rs886038854
|
|
|
NM_002474.3(MYH11):c.3387A>C (p.Ser1129=)
|
rs1176049684
|
|
|
NM_002474.3(MYH11):c.3397G>T (p.Ala1133Ser)
|
rs148731225
|
|
|
NM_002474.3(MYH11):c.3402G>A (p.Arg1134=)
|
rs1245861110
|
|
|
NM_002474.3(MYH11):c.3405C>A (p.Asn1135Lys)
|
rs760057221
|
|
|
NM_002474.3(MYH11):c.3420G>A (p.Gln1140=)
|
rs972414065
|
|
|
NM_002474.3(MYH11):c.3425G>A (p.Arg1142Gln)
|
|
|
|
NM_002474.3(MYH11):c.3427G>T (p.Asp1143Tyr)
|
|
|
|
NM_002474.3(MYH11):c.3436G>A (p.Glu1146Lys)
|
rs965028796
|
|
|
NM_002474.3(MYH11):c.3441G>A (p.Glu1147=)
|
rs1567712736
|
|
|
NM_002474.3(MYH11):c.3441G>C (p.Glu1147Asp)
|
rs1567712736
|
|
|
NM_002474.3(MYH11):c.3443T>A (p.Leu1148Gln)
|
rs1060500726
|
|
|
NM_002474.3(MYH11):c.345+6T>C
|
rs2043942811
|
|
|
NM_002474.3(MYH11):c.3451C>A (p.Leu1151Ile)
|
|
|
|
NM_002474.3(MYH11):c.346-10_346-9del
|
rs2151359938
|
|
|
NM_002474.3(MYH11):c.346-12C>A
|
rs2043470235
|
|
|
NM_002474.3(MYH11):c.346-15del
|
rs2043470304
|
|
|
NM_002474.3(MYH11):c.3462G>A (p.Glu1154=)
|
rs1555556543
|
|
|
NM_002474.3(MYH11):c.3463C>G (p.Leu1155Val)
|
rs2151240818
|
|
|
NM_002474.3(MYH11):c.3475C>A (p.Leu1159Met)
|
|
|
|
NM_002474.3(MYH11):c.3485C>T (p.Thr1162Ile)
|
rs2041086846
|
|
|
NM_002474.3(MYH11):c.348G>A (p.Thr116=)
|
rs781275376
|
|
|
NM_002474.3(MYH11):c.3494A>T (p.Gln1165Leu)
|
rs2151240746
|
|
|
NM_002474.3(MYH11):c.3507-6A>G
|
|
|
|
NM_002474.3(MYH11):c.3507-8C>T
|
rs2041004644
|
|
|
NM_002474.3(MYH11):c.350A>T (p.Tyr117Phe)
|
rs2151359917
|
|
|
NM_002474.3(MYH11):c.3541_3542delinsGC (p.Lys1181Ala)
|
rs1555555783
|
|
|
NM_002474.3(MYH11):c.3557A>G (p.Glu1186Gly)
|
rs2151236097
|
|
|
NM_002474.3(MYH11):c.3566C>A (p.Ser1189Tyr)
|
rs773443243
|
|
|
NM_002474.3(MYH11):c.3570T>A (p.His1190Gln)
|
rs769951224
|
|
|
NM_002474.3(MYH11):c.3593G>A (p.Arg1198Lys)
|
rs1057347498
|
|
|
NM_002474.3(MYH11):c.3603C>T (p.His1201=)
|
rs199800922
|
|
|
NM_002474.3(MYH11):c.3606A>G (p.Ala1202=)
|
rs200589185
|
|
|
NM_002474.3(MYH11):c.3630G>A (p.Glu1210=)
|
rs1567710104
|
|
|
NM_002474.3(MYH11):c.3650G>A (p.Arg1217Lys)
|
rs2040997545
|
|
|
NM_002474.3(MYH11):c.3651+5_3651+11delinsG
|
rs371843272
|
|
|
NM_002474.3(MYH11):c.3651+6_3651+11del
|
rs371843272
|
|
|
NM_002474.3(MYH11):c.3652-12T>A
|
rs1378688228
|
|
|
NM_002474.3(MYH11):c.3652-15T>G
|
rs2040802972
|
|
|
NM_002474.3(MYH11):c.3652-9C>G
|
rs1567705039
|
|
|
NM_002474.3(MYH11):c.3667G>C (p.Asp1223His)
|
rs1264829172
|
|
|
NM_002474.3(MYH11):c.3672G>A (p.Lys1224=)
|
rs1567704963
|
|
|
NM_002474.3(MYH11):c.3688G>C (p.Glu1230Gln)
|
rs141948303
|
|
|
NM_002474.3(MYH11):c.3696G>A (p.Glu1232=)
|
rs1397249648
|
|
|
NM_002474.3(MYH11):c.3699C>T (p.Asn1233=)
|
|
|
|
NM_002474.3(MYH11):c.3705C>G (p.Asp1235Glu)
|
rs374027456
|
|
|
NM_002474.3(MYH11):c.3712G>C (p.Gly1238Arg)
|
rs558332944
|
|
|
NM_002474.3(MYH11):c.3712G>T (p.Gly1238Trp)
|
rs558332944
|
|
|
NM_002474.3(MYH11):c.3715G>A (p.Glu1239Lys)
|
rs1256787988
|
|
|
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro)
|
rs1555554139
|
|
|
NM_002474.3(MYH11):c.3735G>C (p.Gln1245His)
|
rs2040796253
|
|
|
NM_002474.3(MYH11):c.3741G>C (p.Lys1247Asn)
|
|
|
|
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)
|
rs730880147
|
|
|
NM_002474.3(MYH11):c.3759G>C (p.Lys1253Asn)
|
rs746842838
|
|
|
NM_002474.3(MYH11):c.3781G>A (p.Val1261Met)
|
rs1057518389
|
|
|
NM_002474.3(MYH11):c.3786G>A (p.Gln1262=)
|
rs2151225342
|
|
|
NM_002474.3(MYH11):c.3795G>C (p.Gln1265His)
|
rs2040792879
|
|
|
NM_002474.3(MYH11):c.3804C>T (p.Cys1268=)
|
rs2151225287
|
|
|
NM_002474.3(MYH11):c.3805A>G (p.Ser1269Gly)
|
rs200012419
|
|
|
NM_002474.3(MYH11):c.3808G>C (p.Asp1270His)
|
rs770319821
|
|
|
NM_002474.3(MYH11):c.3817C>G (p.Arg1273Gly)
|
rs142227497
|
|
|
NM_002474.3(MYH11):c.3818G>A (p.Arg1273Gln)
|
rs1473608237
|
|
|
NM_002474.3(MYH11):c.3823C>A (p.Arg1275=)
|
rs1182738877
|
|
|
NM_002474.3(MYH11):c.3823C>T (p.Arg1275Trp)
|
rs1182738877
|
|
|
NM_002474.3(MYH11):c.3832C>G (p.Leu1278Val)
|
rs2040790247
|
|
|
NM_002474.3(MYH11):c.3839A>C (p.Asp1280Ala)
|
|
|
|
NM_002474.3(MYH11):c.3845T>G (p.Val1282Gly)
|
rs1555554044
|
|
|
NM_002474.3(MYH11):c.3856_3858+1dup
|
rs1013512621
|
|
|
NM_002474.3(MYH11):c.3859-15T>C
|
|
|
|
NM_002474.3(MYH11):c.3859-7C>T
|
|
|
|
NM_002474.3(MYH11):c.3873C>G (p.Ser1291Arg)
|
rs140339691
|
|
|
NM_002474.3(MYH11):c.3874G>A (p.Val1292Ile)
|
rs151058774
|
|
|
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu)
|
rs151058774
|
|
|
NM_002474.3(MYH11):c.3878C>G (p.Thr1293Arg)
|
rs2151219964
|
|
|
NM_002474.3(MYH11):c.3885G>T (p.Met1295Ile)
|
rs2040677902
|
|
|
NM_002474.3(MYH11):c.3888T>G (p.Leu1296=)
|
|
|
|
NM_002474.3(MYH11):c.3897C>A (p.Ala1299=)
|
rs190546350
|
|
|
NM_002474.3(MYH11):c.3901G>A (p.Gly1301Arg)
|
|
|
|
NM_002474.3(MYH11):c.3903G>A (p.Gly1301=)
|
rs2151219916
|
|
|
NM_002474.3(MYH11):c.3908C>A (p.Ala1303Asp)
|
|
|
|
NM_002474.3(MYH11):c.391C>G (p.Leu131Val)
|
rs111247524
|
|
|
NM_002474.3(MYH11):c.3928G>T (p.Val1310Leu)
|
rs7196804
|
|
|
NM_002474.3(MYH11):c.3959C>G (p.Thr1320Ser)
|
rs2040673806
|
|
|
NM_002474.3(MYH11):c.3963+2T>C
|
rs111325146
|
|
|
NM_002474.3(MYH11):c.4000G>A (p.Val1334Met)
|
rs139377348
|
|
|
NM_002474.3(MYH11):c.4000G>T (p.Val1334Leu)
|
rs139377348
|
|
|
NM_002474.3(MYH11):c.4012C>T (p.Leu1338=)
|
rs2040663609
|
|
|
NM_002474.3(MYH11):c.4015C>A (p.Arg1339Ser)
|
rs754951425
|
|
|
NM_002474.3(MYH11):c.4021C>T (p.Leu1341=)
|
rs1369457903
|
|
|
NM_002474.3(MYH11):c.4039A>G (p.Ser1347Gly)
|
rs2151219347
|
|
|
NM_002474.3(MYH11):c.4048G>C (p.Asp1350His)
|
|
|
|
NM_002474.3(MYH11):c.405G>C (p.Ser135=)
|
rs375649016
|
|
|
NM_002474.3(MYH11):c.4083C>T (p.Asn1361=)
|
rs769899465
|
|
|
NM_002474.3(MYH11):c.4086G>A (p.Leu1362=)
|
rs998445950
|
|
|
NM_002474.3(MYH11):c.4087G>A (p.Glu1363Lys)
|
rs1398265916
|
|
|
NM_002474.3(MYH11):c.4089G>T (p.Glu1363Asp)
|
rs748585013
|
|
|
NM_002474.3(MYH11):c.4091G>A (p.Arg1364His)
|
|
|
|
NM_002474.3(MYH11):c.4114C>A (p.Gln1372Lys)
|
rs957879903
|
|
|
NM_002474.3(MYH11):c.4114C>G (p.Gln1372Glu)
|
|
|
|
NM_002474.3(MYH11):c.4117-6T>C
|
|
|
|
NM_002474.3(MYH11):c.4117-7C>T
|
|
|
|
NM_002474.3(MYH11):c.4129AAG[2] (p.Lys1379del)
|
rs748742555
|
|
|
NM_002474.3(MYH11):c.4146C>T (p.Asp1382=)
|
rs761097049
|
|
|
NM_002474.3(MYH11):c.4150G>A (p.Ala1384Thr)
|
rs775802674
|
|
|
NM_002474.3(MYH11):c.4150G>C (p.Ala1384Pro)
|
|
|
|
NM_002474.3(MYH11):c.4154G>T (p.Ser1385Ile)
|
rs2040640042
|
|
|
NM_002474.3(MYH11):c.4158_4159delinsTA (p.Val1387Met)
|
rs2040639430
|
|
|
NM_002474.3(MYH11):c.4160T>G (p.Val1387Gly)
|
|
|
|
NM_002474.3(MYH11):c.4163A>T (p.Glu1388Val)
|
|
|
|
NM_002474.3(MYH11):c.4169T>C (p.Leu1390Pro)
|
rs2151218401
|
|
|
NM_002474.3(MYH11):c.4184A>G (p.Lys1395Arg)
|
rs1468559687
|
|
|
NM_002474.3(MYH11):c.4202T>C (p.Ile1401Thr)
|
rs765373729
|
|
|
NM_002474.3(MYH11):c.4203C>G (p.Ile1401Met)
|
rs760611400
|
|
|
NM_002474.3(MYH11):c.4210C>G (p.Leu1404Val)
|
|
|
|
NM_002474.3(MYH11):c.4220A>T (p.Gln1407Leu)
|
rs2151218283
|
|
|
NM_002474.3(MYH11):c.423G>A (p.Met141Ile)
|
rs2043466892
|
|
|
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr)
|
rs794728676
|
|
|
NM_002474.3(MYH11):c.4241_4242delinsTG (p.Ala1414Val)
|
rs2040634438
|
|
|
NM_002474.3(MYH11):c.4242T>A (p.Ala1414=)
|
rs2075511
|
|
|
NM_002474.3(MYH11):c.4252C>T (p.Leu1418=)
|
|
|
|
NM_002474.3(MYH11):c.4257A>G (p.Glu1419=)
|
|
|
|
NM_002474.3(MYH11):c.4269C>A (p.Asn1423Lys)
|
rs990642038
|
|
|
NM_002474.3(MYH11):c.4282G>C (p.Glu1428Gln)
|
rs2040631854
|
|
|
NM_002474.3(MYH11):c.4288G>A (p.Asp1430Asn)
|
|
|
|
NM_002474.3(MYH11):c.4290C>G (p.Asp1430Glu)
|
rs1171298608
|
|
|
NM_002474.3(MYH11):c.4291G>A (p.Asp1431Asn)
|
rs2040631048
|
|
|
NM_002474.3(MYH11):c.429G>T (p.Lys143Asn)
|
|
|
|
NM_002474.3(MYH11):c.4305T>A (p.Asp1435Glu)
|
rs2040629877
|
|
|
NM_002474.3(MYH11):c.4308G>A (p.Leu1436=)
|
rs761273646
|
|
|
NM_002474.3(MYH11):c.4318C>A (p.Arg1440=)
|
rs766841864
|
|
|
NM_002474.3(MYH11):c.4321dup (p.Gln1441fs)
|
rs2040628585
|
|
|
NM_002474.3(MYH11):c.4355A>G (p.Lys1452Arg)
|
rs1567699253
|
|
|
NM_002474.3(MYH11):c.4358T>G (p.Phe1453Cys)
|
rs151112745
|
|
|
NM_002474.3(MYH11):c.4366-10T>C
|
|
|
|
NM_002474.3(MYH11):c.4366-9G>C
|
rs780605828
|
|
|
NM_002474.3(MYH11):c.4369T>C (p.Leu1457=)
|
rs2040489943
|
|
|
NM_002474.3(MYH11):c.4374C>G (p.Ala1458=)
|
rs767066866
|
|
|
NM_002474.3(MYH11):c.4375G>A (p.Glu1459Lys)
|
rs1159818787
|
|
|
NM_002474.3(MYH11):c.4407T>A (p.Asp1469Glu)
|
rs901607947
|
|
|
NM_002474.3(MYH11):c.440G>A (p.Arg147Lys)
|
rs2043466068
|
|
|
NM_002474.3(MYH11):c.4412G>A (p.Arg1471Lys)
|
rs2040487068
|
|
|
NM_002474.3(MYH11):c.4416C>T (p.Asp1472=)
|
|
|
|
NM_002474.3(MYH11):c.4431A>C (p.Glu1477Asp)
|
rs2040485781
|
|
|
NM_002474.3(MYH11):c.4431A>T (p.Glu1477Asp)
|
|
|
|
NM_002474.3(MYH11):c.444C>A (p.His148Gln)
|
rs569925780
|
|
|
NM_002474.3(MYH11):c.4465G>A (p.Ala1489Thr)
|
|
|
|
NM_002474.3(MYH11):c.4476T>C (p.Leu1492=)
|
rs1193961175
|
|
|
NM_002474.3(MYH11):c.4479A>C (p.Glu1493Asp)
|
rs755712100
|
|
|
NM_002474.3(MYH11):c.4480G>C (p.Glu1494Gln)
|
rs375969176
|
|
|
NM_002474.3(MYH11):c.4482G>A (p.Glu1494=)
|
rs1214180465
|
|
|
NM_002474.3(MYH11):c.4486T>G (p.Leu1496Val)
|
rs568507502
|
|
|
NM_002474.3(MYH11):c.4499A>G (p.Glu1500Gly)
|
|
|
|
NM_002474.3(MYH11):c.4507G>A (p.Glu1503Lys)
|
rs766093291
|
|
|
NM_002474.3(MYH11):c.4514C>T (p.Thr1505Ile)
|
rs2040481231
|
|
|
NM_002474.3(MYH11):c.4517A>G (p.Asn1506Ser)
|
rs1060500727
|
|
|
NM_002474.3(MYH11):c.4518C>G (p.Asn1506Lys)
|
|
|
|
NM_002474.3(MYH11):c.4534G>A (p.Glu1512Lys)
|
rs1596721070
|
|
|
NM_002474.3(MYH11):c.4536A>C (p.Glu1512Asp)
|
rs771367057
|
|
|
NM_002474.3(MYH11):c.4540G>A (p.Glu1514Lys)
|
|
|
|
NM_002474.3(MYH11):c.4541A>T (p.Glu1514Val)
|
rs2040478111
|
|
|
NM_002474.3(MYH11):c.4567G>A (p.Val1523Met)
|
|
|
|
NM_002474.3(MYH11):c.4578C>T (p.Asn1526=)
|
rs1186932787
|
|
|
NM_002474.3(MYH11):c.4579-5G>A
|
rs759760029
|
|
|
NM_002474.3(MYH11):c.4579G>T (p.Val1527Phe)
|
rs774544947
|
|
|
NM_002474.3(MYH11):c.4586_4598inv (p.Glu1529_Ser1533delinsGlyLeuLeuGlnLeu)
|
|
|
|
NM_002474.3(MYH11):c.4587G>A (p.Glu1529=)
|
rs1567695324
|
|
|
NM_002474.3(MYH11):c.4601A>C (p.Lys1534Thr)
|
rs1330157483
|
|
|
NM_002474.3(MYH11):c.4610T>G (p.Leu1537Arg)
|
|
|
|
NM_002474.3(MYH11):c.463T>G (p.Tyr155Asp)
|
|
|
|
NM_002474.3(MYH11):c.4651C>T (p.Leu1551=)
|
rs2040440699
|
|
|
NM_002474.3(MYH11):c.4657G>A (p.Asp1553Asn)
|
rs2151208733
|
|
|
NM_002474.3(MYH11):c.4663C>G (p.Leu1555Val)
|
rs202231621
|
|
|
NM_002474.3(MYH11):c.4668A>G (p.Gln1556=)
|
rs148275462
|
|
|
NM_002474.3(MYH11):c.4669G>A (p.Ala1557Thr)
|
rs2040439329
|
|
|
NM_002474.3(MYH11):c.4674G>T (p.Thr1558=)
|
rs778499852
|
|
|
NM_002474.3(MYH11):c.4690C>A (p.Arg1564=)
|
rs756121642
|
|
|
NM_002474.3(MYH11):c.4690C>T (p.Arg1564Trp)
|
|
|
|
NM_002474.3(MYH11):c.4707G>A (p.Met1569Ile)
|
rs2040437613
|
|
|
NM_002474.3(MYH11):c.4709A>C (p.Gln1570Pro)
|
rs2040437510
|
|
|
NM_002474.3(MYH11):c.4713G>C (p.Ala1571=)
|
rs141198584
|
|
|
NM_002474.3(MYH11):c.4728C>A (p.Phe1576Leu)
|
rs765435868
|
|
|
NM_002474.3(MYH11):c.4728C>T (p.Phe1576=)
|
rs765435868
|
|
|
NM_002474.3(MYH11):c.4753G>A (p.Glu1585Lys)
|
rs773895582
|
|
|
NM_002474.3(MYH11):c.4762GAG[1] (p.Glu1589del)
|
|
|
|
NM_002474.3(MYH11):c.4773G>C (p.Arg1591Ser)
|
rs747923542
|
|
|
NM_002474.3(MYH11):c.4782G>C (p.Leu1594=)
|
|
|
|
NM_002474.3(MYH11):c.4786A>G (p.Arg1596Gly)
|
rs754931029
|
|
|
NM_002474.3(MYH11):c.4791+3G>A
|
rs934815328
|
|
|
NM_002474.3(MYH11):c.4791+4C>A
|
rs142108062
|
|
|
NM_002474.3(MYH11):c.4792-10C>T
|
rs1432532960
|
|
|
NM_002474.3(MYH11):c.4792-15C>G
|
rs753012907
|
|
|
NM_002474.3(MYH11):c.4792-6G>A
|
rs766965358
|
|
|
NM_002474.3(MYH11):c.4792-6G>C
|
rs766965358
|
|
|
NM_002474.3(MYH11):c.4792-9C>G
|
rs201567063
|
|
|
NM_002474.3(MYH11):c.4800G>T (p.Glu1600Asp)
|
rs1328056044
|
|
|
NM_002474.3(MYH11):c.4819G>A (p.Asp1607Asn)
|
rs771990666
|
|
|
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=)
|
rs749424185
|
|
|
NM_002474.3(MYH11):c.4825C>A (p.Arg1609=)
|
rs1055960218
|
|
|
NM_002474.3(MYH11):c.483C>A (p.Ala161=)
|
rs1410270945
|
|
|
NM_002474.3(MYH11):c.4842G>A (p.Leu1614=)
|
rs2151206445
|
|
|
NM_002474.3(MYH11):c.4846G>C (p.Ala1616Pro)
|
|
|
|
NM_002474.3(MYH11):c.4849G>A (p.Ala1617Thr)
|
rs2040395983
|
|
|
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del)
|
rs755547393
|
|
|
NM_002474.3(MYH11):c.4890G>C (p.Glu1630Asp)
|
rs571540776
|
|
|
NM_002474.3(MYH11):c.4906G>C (p.Ala1636Pro)
|
rs376331652
|
|
|
NM_002474.3(MYH11):c.4915G>A (p.Gly1639Arg)
|
|
|
|
NM_002474.3(MYH11):c.4924G>A (p.Glu1642Lys)
|
rs2040391117
|
|
|
NM_002474.3(MYH11):c.4935G>A (p.Lys1645=)
|
rs2040390157
|
|
|
NM_002474.3(MYH11):c.4951C>G (p.Gln1651Glu)
|
rs2151206068
|
|
|
NM_002474.3(MYH11):c.4954-18_4954-15del
|
rs766943222
|
|
|
NM_002474.3(MYH11):c.4968C>T (p.Asp1656=)
|
rs2040364464
|
|
|
NM_002474.3(MYH11):c.4975A>G (p.Arg1659Gly)
|
rs2151204765
|
|
|
NM_002474.3(MYH11):c.4991C>T (p.Ala1664Val)
|
rs2040362704
|
|
|
NM_002474.3(MYH11):c.4994G>A (p.Arg1665His)
|
rs144813247
|
|
|
NM_002474.3(MYH11):c.5002A>T (p.Arg1668Ter)
|
|
|
|
NM_002474.3(MYH11):c.502+5G>C
|
rs376531977
|
|
|
NM_002474.3(MYH11):c.503-1G>A
|
rs2042810565
|
|
|
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg)
|
rs760908992
|
|
|
NM_002474.3(MYH11):c.5052C>T (p.Ser1684=)
|
rs760908992
|
|
|
NM_002474.3(MYH11):c.5055G>A (p.Leu1685=)
|
|
|
|
NM_002474.3(MYH11):c.505C>T (p.Arg169Trp)
|
rs767290755
|
|
|
NM_002474.3(MYH11):c.5083-4del
|
|
|
|
NM_002474.3(MYH11):c.5092_5093delinsAG (p.Ala1698Ser)
|
rs2040340393
|
|
|
NM_002474.3(MYH11):c.5097T>C (p.Ala1699=)
|
rs778782812
|
|
|
NM_002474.3(MYH11):c.5099A>T (p.Glu1700Val)
|
rs2040339703
|
|
|
NM_002474.3(MYH11):c.510G>A (p.Glu170=)
|
rs762630727
|
|
|
NM_002474.3(MYH11):c.5114A>C (p.Gln1705Pro)
|
rs2040338321
|
|
|
NM_002474.3(MYH11):c.5118G>A (p.Ala1706=)
|
rs147582612
|
|
|
NM_002474.3(MYH11):c.5118G>T (p.Ala1706=)
|
rs147582612
|
|
|
NM_002474.3(MYH11):c.5120A>G (p.Asp1707Gly)
|
rs1567691518
|
|
|
NM_002474.3(MYH11):c.5125G>A (p.Glu1709Lys)
|
rs769202751
|
|
|
NM_002474.3(MYH11):c.5125G>C (p.Glu1709Gln)
|
|
|
|
NM_002474.3(MYH11):c.5139G>A (p.Leu1713=)
|
rs2040336597
|
|
|
NM_002474.3(MYH11):c.5150T>C (p.Leu1717Pro)
|
rs2040336060
|
|
|
NM_002474.3(MYH11):c.5163G>A (p.Leu1721=)
|
|
|
|
NM_002474.3(MYH11):c.5163G>T (p.Leu1721=)
|
rs777919235
|
|
|
NM_002474.3(MYH11):c.5172-10C>G
|
rs757411784
|
|
|
NM_002474.3(MYH11):c.5172-11C>A
|
rs779166026
|
|
|
NM_002474.3(MYH11):c.5172-4_5172-3delinsGT
|
rs2040287388
|
|
|
NM_002474.3(MYH11):c.5187C>G (p.Asp1729Glu)
|
rs145101141
|
|
|
NM_002474.3(MYH11):c.5195G>A (p.Arg1732His)
|
rs1310012347
|
|
|
NM_002474.3(MYH11):c.5200C>G (p.Leu1734Val)
|
rs2040284764
|
|
|
NM_002474.3(MYH11):c.5205G>T (p.Glu1735Asp)
|
rs1388279286
|
|
|
NM_002474.3(MYH11):c.5206G>A (p.Ala1736Thr)
|
|
|
|
NM_002474.3(MYH11):c.5209C>T (p.Arg1737Trp)
|
rs772907739
|
|
|
NM_002474.3(MYH11):c.5215G>A (p.Ala1739Thr)
|
rs1029371842
|
|
|
NM_002474.3(MYH11):c.5220G>T (p.Gln1740His)
|
rs2040283176
|
|
|
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[1] (p.1741LEEE[1])
|
rs777249764
|
|
|
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[3] (p.Glu1748_Gln1749insLeuGluGluGlu)
|
rs777249764
|
|
|
NM_002474.3(MYH11):c.5224G>C (p.Glu1742Gln)
|
rs769680879
|
|
|
NM_002474.3(MYH11):c.5224GAG[2] (p.Glu1744del)
|
rs1224659472
|
|
|
NM_002474.3(MYH11):c.5225A>G (p.Glu1742Gly)
|
rs747864632
|
|
|
NM_002474.3(MYH11):c.5232G>A (p.Glu1744=)
|
rs1596709576
|
|
|
NM_002474.3(MYH11):c.5238G>A (p.Glu1746=)
|
rs1567689895
|
|
|
NM_002474.3(MYH11):c.5241G>A (p.Glu1747=)
|
rs2151201307
|
|
|
NM_002474.3(MYH11):c.5248G>A (p.Gly1750Ser)
|
rs749462800
|
|
|
NM_002474.3(MYH11):c.5253C>T (p.Asn1751=)
|
rs1039451380
|
|
|
NM_002474.3(MYH11):c.5264T>A (p.Met1755Lys)
|
rs756538881
|
|
|
NM_002474.3(MYH11):c.5269G>T (p.Asp1757Tyr)
|
rs752996609
|
|
|
NM_002474.3(MYH11):c.5275G>C (p.Val1759Leu)
|
|
|
|
NM_002474.3(MYH11):c.5278C>A (p.Arg1760Ser)
|
rs764794087
|
|
|
NM_002474.3(MYH11):c.5287A>G (p.Thr1763Ala)
|
rs2151201134
|
|
|
NM_002474.3(MYH11):c.5289A>G (p.Thr1763=)
|
rs776233378
|
|
|
NM_002474.3(MYH11):c.5296-10_5296-9del
|
|
|
|
NM_002474.3(MYH11):c.531-13C>A
|
|
|
|
NM_002474.3(MYH11):c.531-2A>G
|
rs2042478374
|
|
|
NM_002474.3(MYH11):c.531-3C>T
|
rs2151307409
|
|
|
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys)
|
rs201960644
|
|
|
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met)
|
rs201960644
|
|
|
NM_002474.3(MYH11):c.5337G>A (p.Thr1779=)
|
rs906883862
|
|
|
NM_002474.3(MYH11):c.5343GAA[1] (p.Lys1782del)
|
rs2151198418
|
|
|
NM_002474.3(MYH11):c.5346G>A (p.Lys1782=)
|
rs375743675
|
|
|
NM_002474.3(MYH11):c.5349T>A (p.Asn1783Lys)
|
rs112201211
|
|
|
NM_002474.3(MYH11):c.5353_5355delinsTGC (p.Ser1785Cys)
|
|
|
|
NM_002474.3(MYH11):c.5357C>T (p.Ala1786Val)
|
rs1567687948
|
|
|
NM_002474.3(MYH11):c.535G>A (p.Glu179Lys)
|
|
|
|
NM_002474.3(MYH11):c.5370C>G (p.Leu1790=)
|
rs35295469
|
|
|
NM_002474.3(MYH11):c.5371G>A (p.Glu1791Lys)
|
rs368269107
|
|
|
NM_002474.3(MYH11):c.5371G>C (p.Glu1791Gln)
|
rs368269107
|
|
|
NM_002474.3(MYH11):c.5374C>A (p.Arg1792=)
|
|
|
|
NM_002474.3(MYH11):c.5388G>A (p.Glu1796=)
|
|
|
|
NM_002474.3(MYH11):c.5392C>A (p.Arg1798=)
|
rs371581038
|
|
|
NM_002474.3(MYH11):c.5394G>A (p.Arg1798=)
|
rs2040206876
|
|
|
NM_002474.3(MYH11):c.5396G>C (p.Ser1799Thr)
|
rs776016983
|
|
|
NM_002474.3(MYH11):c.5397C>T (p.Ser1799=)
|
rs2040206300
|
|
|
NM_002474.3(MYH11):c.5398A>G (p.Lys1800Glu)
|
|
|
|
NM_002474.3(MYH11):c.5404_5406del (p.His1802del)
|
rs2040205677
|
|
|
NM_002474.3(MYH11):c.5406C>T (p.His1802=)
|
rs746211825
|
|
|
NM_002474.3(MYH11):c.5407G>A (p.Glu1803Lys)
|
rs1314387438
|
|
|
NM_002474.3(MYH11):c.5412G>A (p.Met1804Ile)
|
rs748806263
|
|
|
NM_002474.3(MYH11):c.5428T>C (p.Ser1810Pro)
|
|
|
|
NM_002474.3(MYH11):c.5438_5443dup (p.Ser1814_Thr1815insLysSer)
|
rs1567687613
|
|
|
NM_002474.3(MYH11):c.5468T>C (p.Ile1823Thr)
|
rs769337030
|
|
|
NM_002474.3(MYH11):c.5481G>A (p.Glu1827=)
|
rs1462236605
|
|
|
NM_002474.3(MYH11):c.5482G>A (p.Glu1828Lys)
|
|
|
|
NM_002474.3(MYH11):c.5485C>A (p.Gln1829Lys)
|
rs1005977032
|
|
|
NM_002474.3(MYH11):c.5487G>A (p.Gln1829=)
|
rs1425013438
|
|
|
NM_002474.3(MYH11):c.5488G>A (p.Val1830Ile)
|
rs185904370
|
|
|
NM_002474.3(MYH11):c.5489_5497del (p.Val1830_Gln1832del)
|
rs2040197454
|
|
|
NM_002474.3(MYH11):c.5490C>A (p.Val1830=)
|
rs770582589
|
|
|
NM_002474.3(MYH11):c.5491G>A (p.Glu1831Lys)
|
rs750433973
|
|
|
NM_002474.3(MYH11):c.5491G>C (p.Glu1831Gln)
|
rs750433973
|
|
|
NM_002474.3(MYH11):c.5496G>C (p.Gln1832His)
|
rs553162576
|
|
|
NM_002474.3(MYH11):c.5499G>A (p.Glu1833=)
|
|
|
|
NM_002474.3(MYH11):c.5504+6C>T
|
rs371348553
|
|
|
NM_002474.3(MYH11):c.5528C>G (p.Ser1843Trp)
|
rs148621523
|
|
|
NM_002474.3(MYH11):c.5551C>G (p.Leu1851Val)
|
rs2040060024
|
|
|
NM_002474.3(MYH11):c.5565G>A (p.Leu1855=)
|
rs2040059297
|
|
|
NM_002474.3(MYH11):c.5578G>A (p.Asp1860Asn)
|
|
|
|
NM_002474.3(MYH11):c.5617G>C (p.Glu1873Gln)
|
rs2040046772
|
|
|
NM_002474.3(MYH11):c.561C>T (p.Asn187=)
|
rs2042477691
|
|
|
NM_002474.3(MYH11):c.5634G>A (p.Arg1878=)
|
rs2040045137
|
|
|
NM_002474.3(MYH11):c.5642A>G (p.Gln1881Arg)
|
|
|
|
NM_002474.3(MYH11):c.5644C>T (p.Leu1882Phe)
|
rs2040044275
|
|
|
NM_002474.3(MYH11):c.5656_5668del (p.Leu1886fs)
|
|
|
|
NM_002474.3(MYH11):c.5670G>A (p.Glu1890=)
|
rs1246060293
|
|
|
NM_002474.3(MYH11):c.5674G>A (p.Glu1892Lys)
|
|
|
|
NM_002474.3(MYH11):c.5676G>A (p.Glu1892=)
|
|
|
|
NM_002474.3(MYH11):c.5683C>A (p.Arg1895Ser)
|
rs992494235
|
|
|
NM_002474.3(MYH11):c.5683C>T (p.Arg1895Cys)
|
rs992494235
|
|
|
NM_002474.3(MYH11):c.5691C>A (p.Asn1897Lys)
|
|
|
|
NM_002474.3(MYH11):c.5702G>A (p.Arg1901Lys)
|
rs2151192042
|
|
|
NM_002474.3(MYH11):c.5711A>G (p.Gln1904Arg)
|
rs2151192036
|
|
|
NM_002474.3(MYH11):c.5713C>T (p.Arg1905Trp)
|
rs749422717
|
|
|
NM_002474.3(MYH11):c.5718G>A (p.Glu1906=)
|
|
|
|
NM_002474.3(MYH11):c.5736G>A (p.Glu1912=)
|
rs1331907008
|
|
|
NM_002474.3(MYH11):c.5737A>C (p.Ser1913Arg)
|
rs760586766
|
|
|
NM_002474.3(MYH11):c.5748C>G (p.Ala1916=)
|
rs2040037101
|
|
|
NM_002474.3(MYH11):c.5772C>T (p.Leu1924=)
|
rs774511118
|
|
|
NM_002474.3(MYH11):c.5787-4683C>A
|
|
|
|
NM_002474.3(MYH11):c.5787-4685C>T
|
rs2151173150
|
|
|
NM_002474.3(MYH11):c.5787-4727_5787-4724del
|
rs2039615251
|
|
|
NM_002474.3(MYH11):c.5787-4733CT[2]
|
rs747642850
|
|
|
NM_002474.3(MYH11):c.5787-4733CT[3]
|
rs747642850
|
|
|
NM_002474.3(MYH11):c.5787-7C>T
|
rs762461340
|
|
|
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=)
|
rs149529195
|
|
|
NM_002474.3(MYH11):c.57C>A (p.Asn19Lys)
|
rs148464745
|
|
|
NM_002474.3(MYH11):c.5825C>T (p.Ser1942Phe)
|
rs2039323650
|
|
|
NM_002474.3(MYH11):c.582C>T (p.Tyr194=)
|
|
|
|
NM_002474.3(MYH11):c.5833C>T (p.Arg1945Cys)
|
rs751862398
|
|
|
NM_002474.3(MYH11):c.5843T>C (p.Ile1948Thr)
|
rs764843752
|
|
|
NM_002474.3(MYH11):c.5850T>C (p.Asn1950=)
|
rs2039322422
|
|
|
NM_002474.3(MYH11):c.5864A>T (p.Glu1955Val)
|
rs2039321532
|
|
|
NM_002474.3(MYH11):c.5881C>T (p.Arg1961Ter)
|
rs772155686
|
|
|
NM_002474.3(MYH11):c.5897A>G (p.Asn1966Ser)
|
rs1317809527
|
|
|
NM_002474.3(MYH11):c.589G>A (p.Val197Met)
|
rs1397436456
|
|
|
NM_002474.3(MYH11):c.595G>T (p.Ala199Ser)
|
|
|
|
NM_002474.3(MYH11):c.598T>C (p.Ser200Pro)
|
rs763151112
|
|
|
NM_002474.3(MYH11):c.59T>G (p.Phe20Cys)
|
rs2043957002
|
|
|
NM_002474.3(MYH11):c.604C>T (p.His202Tyr)
|
|
|
|
NM_002474.3(MYH11):c.605A>C (p.His202Pro)
|
rs369194676
|
|
|
NM_002474.3(MYH11):c.60C>T (p.Phe20=)
|
rs2043956885
|
|
|
NM_002474.3(MYH11):c.623C>A (p.Thr208Lys)
|
|
|
|
NM_002474.3(MYH11):c.633+1900_633+1902del
|
rs2042429734
|
|
|
NM_002474.3(MYH11):c.633+1905A>G
|
|
|
|
NM_002474.3(MYH11):c.633+1937G>A
|
rs2151305406
|
|
|
NM_002474.3(MYH11):c.633G>T (p.Thr211=)
|
rs765225250
|
|
|
NM_002474.3(MYH11):c.634-15G>A
|
|
|
|
NM_002474.3(MYH11):c.658C>A (p.Gln220Lys)
|
rs1331223159
|
|
|
NM_002474.3(MYH11):c.666C>T (p.Asn222=)
|
rs762397994
|
|
|
NM_002474.3(MYH11):c.66C>T (p.Asn22=)
|
rs2151381553
|
|
|
NM_002474.3(MYH11):c.721C>A (p.Arg241=)
|
rs112895882
|
|
|
NM_002474.3(MYH11):c.726+2dup
|
rs2151303032
|
|
|
NM_002474.3(MYH11):c.726+6T>C
|
rs2042375648
|
|
|
NM_002474.3(MYH11):c.727-11C>T
|
rs886051766
|
|
|
NM_002474.3(MYH11):c.727-8G>T
|
|
|
|
NM_002474.3(MYH11):c.72A>C (p.Pro24=)
|
|
|
|
NM_002474.3(MYH11):c.736A>G (p.Ile246Val)
|
rs2042283446
|
|
|
NM_002474.3(MYH11):c.738C>T (p.Ile246=)
|
rs2042283352
|
|
|
NM_002474.3(MYH11):c.741C>T (p.Arg247=)
|
rs2151299059
|
|
|
NM_002474.3(MYH11):c.751G>A (p.Asp251Asn)
|
|
|
|
NM_002474.3(MYH11):c.754G>A (p.Val252Ile)
|
rs772078130
|
|
|
NM_002474.3(MYH11):c.798A>G (p.Leu266=)
|
|
|
|
NM_002474.3(MYH11):c.804A>C (p.Lys268Asn)
|
|
|
|
NM_002474.3(MYH11):c.840A>T (p.Thr280=)
|
rs376999218
|
|
|
NM_002474.3(MYH11):c.847A>C (p.Ile283Leu)
|
rs1680622570
|
|
|
NM_002474.3(MYH11):c.852T>G (p.Phe284Leu)
|
rs2042215219
|
|
|
NM_002474.3(MYH11):c.854A>G (p.Tyr285Cys)
|
|
|
|
NM_002474.3(MYH11):c.861G>A (p.Met287Ile)
|
rs1371371071
|
|
|
NM_002474.3(MYH11):c.86A>C (p.Asp29Ala)
|
rs2151381525
|
|
|
NM_002474.3(MYH11):c.886A>G (p.Arg296Gly)
|
rs2042214133
|
|
|
NM_002474.3(MYH11):c.890-13C>T
|
rs757766831
|
|
|
NM_002474.3(MYH11):c.907G>A (p.Gly303Ser)
|
|
|
|
NM_002474.3(MYH11):c.915C>G (p.Asn305Lys)
|
rs2042105489
|
|
|
NM_002474.3(MYH11):c.91GCC[1] (p.Ala32del)
|
|
|
|
NM_002474.3(MYH11):c.928C>T (p.Leu310Phe)
|
rs2151291395
|
|
|
NM_002474.3(MYH11):c.93C>T (p.Ala31=)
|
rs754808294
|
|
|
NM_002474.3(MYH11):c.953C>T (p.Pro318Leu)
|
rs1567747453
|
|
|
NM_002474.3(MYH11):c.963G>C (p.Gln321His)
|
rs794728673
|
|
|
NM_002474.3(MYH11):c.964_969delinsCA (p.Asp322fs)
|
|
|
|
NM_002474.3(MYH11):c.994G>T (p.Ala332Ser)
|
rs2042103218
|
|
|
NM_003242.6(TGFBR2):c.-15G>C
|
|
|
|
NM_003242.6(TGFBR2):c.-5C>T
|
|
|
|
NM_003242.6(TGFBR2):c.-9G>T
|
rs1406962229
|
|
|
NM_003242.6(TGFBR2):c.1007A>T (p.Tyr336Phe)
|
rs1699354286
|
|
|
NM_003242.6(TGFBR2):c.1014G>C (p.Thr338=)
|
rs764720370
|
|
|
NM_003242.6(TGFBR2):c.1016G>T (p.Arg339Leu)
|
rs727503473
|
|
|
NM_003242.6(TGFBR2):c.1039del (p.Leu347fs)
|
rs1699355189
|
|
|
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn)
|
rs984098699
|
|
|
NM_003242.6(TGFBR2):c.103G>C (p.Asp35His)
|
rs984098699
|
|
|
NM_003242.6(TGFBR2):c.1044C>T (p.Arg348=)
|
|
|
|
NM_003242.6(TGFBR2):c.1047G>C (p.Lys349Asn)
|
rs2125435790
|
|
|
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp)
|
rs199660234
|
|
|
NM_003242.6(TGFBR2):c.1078C>T (p.His360Tyr)
|
rs189119533
|
|
|
NM_003242.6(TGFBR2):c.1096A>G (p.Thr366Ala)
|
rs777332888
|
|
|
NM_003242.6(TGFBR2):c.109A>C (p.Ile37Leu)
|
|
|
|
NM_003242.6(TGFBR2):c.1118T>A (p.Met373Lys)
|
rs1699357750
|
|
|
NM_003242.6(TGFBR2):c.1137C>T (p.Asp379=)
|
rs1411787654
|
|
|
NM_003242.6(TGFBR2):c.1152T>C (p.Asn384=)
|
rs193922661
|
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
|
NM_003242.6(TGFBR2):c.1166A>G (p.Asn389Ser)
|
rs1049576348
|
|
|
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn)
|
rs2125436704
|
|
|
NM_003242.6(TGFBR2):c.1170C>T (p.Asp390=)
|
rs1699359494
|
|
|
NM_003242.6(TGFBR2):c.1179C>T (p.Cys393=)
|
rs2125436765
|
|
|
NM_003242.6(TGFBR2):c.1193T>G (p.Phe398Cys)
|
rs1699359959
|
|
|
NM_003242.6(TGFBR2):c.120C>T (p.Asp40=)
|
|
|
|
NM_003242.6(TGFBR2):c.1213G>A (p.Asp405Asn)
|
rs1699360600
|
|
|
NM_003242.6(TGFBR2):c.1226_1229del (p.Ser409fs)
|
rs1699360883
|
|
|
NM_003242.6(TGFBR2):c.1228G>A (p.Val410Met)
|
|
|
|
NM_003242.6(TGFBR2):c.1236C>A (p.Asp412Glu)
|
rs1699361148
|
|
|
NM_003242.6(TGFBR2):c.1239G>T (p.Leu413=)
|
rs369151798
|
|
|
NM_003242.6(TGFBR2):c.1246A>T (p.Ser416Cys)
|
rs1060501983
|
|
|
NM_003242.6(TGFBR2):c.1247G>C (p.Ser416Thr)
|
|
|
|
NM_003242.6(TGFBR2):c.1264G>T (p.Ala422Ser)
|
rs2125438757
|
|
|
NM_003242.6(TGFBR2):c.1300A>T (p.Met434Leu)
|
|
|
|
NM_003242.6(TGFBR2):c.1335C>T (p.Thr445=)
|
rs546058122
|
|
|
NM_003242.6(TGFBR2):c.1359G>A (p.Val453=)
|
|
|
|
NM_003242.6(TGFBR2):c.1369A>G (p.Met457Val)
|
rs2125439320
|
|
|
NM_003242.6(TGFBR2):c.136A>G (p.Lys46Glu)
|
rs1553627148
|
|
|
NM_003242.6(TGFBR2):c.1371G>T (p.Met457Ile)
|
rs1218684641
|
|
|
NM_003242.6(TGFBR2):c.1373C>T (p.Thr458Ile)
|
rs1699394098
|
|
|
NM_003242.6(TGFBR2):c.1392G>A (p.Val464=)
|
rs1471090070
|
|
|
NM_003242.6(TGFBR2):c.1396+5_1396+11del
|
rs1699394596
|
|
|
NM_003242.6(TGFBR2):c.1397-11T>C
|
rs1699658974
|
|
|
NM_003242.6(TGFBR2):c.1401A>G (p.Val467=)
|
rs2125451595
|
|
|
NM_003242.6(TGFBR2):c.1452C>G (p.Val484=)
|
rs185502982
|
|
|
NM_003242.6(TGFBR2):c.1469A>G (p.Asn490Ser)
|
|
|
|
NM_003242.6(TGFBR2):c.1507T>C (p.Phe503Leu)
|
rs772201128
|
|
|
NM_003242.6(TGFBR2):c.1518C>A (p.Asn506Lys)
|
rs2125452270
|
|
|
NM_003242.6(TGFBR2):c.1524+3A>G
|
rs1486137817
|
|
|
NM_003242.6(TGFBR2):c.1525-14C>T
|
rs1699706434
|
|
|
NM_003242.6(TGFBR2):c.1530C>A (p.Ile510=)
|
rs1455284208
|
|
|
NM_003242.6(TGFBR2):c.1542T>C (p.Cys514=)
|
rs1575166645
|
|
|
NM_003242.6(TGFBR2):c.1549T>A (p.Leu517Met)
|
rs1559473413
|
|
|
NM_003242.6(TGFBR2):c.1560C>T (p.Cys520=)
|
rs1699707940
|
|
|
NM_003242.6(TGFBR2):c.156A>G (p.Lys52=)
|
rs1698701197
|
|
|
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)
|
rs727503477
|
|
|
NM_003242.6(TGFBR2):c.1596G>T (p.Gln532His)
|
rs750806566
|
|
|
NM_003242.6(TGFBR2):c.1629T>A (p.His543Gln)
|
|
|
|
NM_003242.6(TGFBR2):c.1635C>G (p.Asp545Glu)
|
rs1178327690
|
|
|
NM_003242.6(TGFBR2):c.1641C>T (p.Leu547=)
|
rs1699710286
|
|
|
NM_003242.6(TGFBR2):c.1653_1665dup (p.Lys556fs)
|
rs767015322
|
|
|
NM_003242.6(TGFBR2):c.1663G>A (p.Glu555Lys)
|
rs1325892805
|
|
|
NM_003242.6(TGFBR2):c.1676_1677del (p.Glu559fs)
|
rs2125455762
|
|
|
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu)
|
rs376815143
|
|
|
NM_003242.6(TGFBR2):c.1682G>A (p.Gly561Asp)
|
rs1559473531
|
|
|
NM_003242.6(TGFBR2):c.188A>G (p.Asn63Ser)
|
rs1432089303
|
|
|
NM_003242.6(TGFBR2):c.195A>G (p.Lys65=)
|
|
|
|
NM_003242.6(TGFBR2):c.199_203del (p.Cys67fs)
|
|
|
|
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)
|
rs933114782
|
|
|
NM_003242.6(TGFBR2):c.207C>T (p.Ser69=)
|
rs1559456575
|
|
|
NM_003242.6(TGFBR2):c.221C>A (p.Thr74Asn)
|
|
|
|
NM_003242.6(TGFBR2):c.240A>G (p.Pro80=)
|
rs2125404896
|
|
|
NM_003242.6(TGFBR2):c.259G>C (p.Val87Leu)
|
|
|
|
NM_003242.6(TGFBR2):c.261A>G (p.Val87=)
|
rs1266465311
|
|
|
NM_003242.6(TGFBR2):c.264-11C>T
|
rs911305377
|
|
|
NM_003242.6(TGFBR2):c.264-7A>G
|
rs1001983657
|
|
|
NM_003242.6(TGFBR2):c.272A>C (p.Asn91Thr)
|
rs1559458806
|
|
|
NM_003242.6(TGFBR2):c.278A>G (p.Glu93Gly)
|
rs1182342277
|
|
|
NM_003242.6(TGFBR2):c.283A>G (p.Ile95Val)
|
rs1242885838
|
|
|
NM_003242.6(TGFBR2):c.291A>G (p.Leu97=)
|
rs374201843
|
|
|
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)
|
rs193922665
|
|
|
NM_003242.6(TGFBR2):c.319C>A (p.Pro107Thr)
|
rs1698856374
|
|
|
NM_003242.6(TGFBR2):c.325C>G (p.His109Asp)
|
rs778838598
|
|
|
NM_003242.6(TGFBR2):c.342A>G (p.Glu114=)
|
rs1698857092
|
|
|
NM_003242.6(TGFBR2):c.371A>C (p.Lys124Thr)
|
rs776374040
|
|
|
NM_003242.6(TGFBR2):c.381A>G (p.Lys127=)
|
|
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
|
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs)
|
rs79375991
|
|
|
NM_003242.6(TGFBR2):c.387T>C (p.Pro129=)
|
rs1414240560
|
|
|
NM_003242.6(TGFBR2):c.389G>T (p.Gly130Val)
|
rs1698859109
|
|
|
NM_003242.6(TGFBR2):c.395C>T (p.Thr132Ile)
|
rs1402755105
|
|
|
NM_003242.6(TGFBR2):c.416G>T (p.Ser139Ile)
|
|
|
|
NM_003242.6(TGFBR2):c.43G>A (p.Val15Ile)
|
rs1182907194
|
|
|
NM_003242.6(TGFBR2):c.454+8_454+9del
|
rs1489925744
|
|
|
NM_003242.6(TGFBR2):c.455-5A>G
|
rs747104789
|
|
|
NM_003242.6(TGFBR2):c.455-8C>T
|
|
|
|
NM_003242.6(TGFBR2):c.462C>G (p.Asn154Lys)
|
rs1699338437
|
|
|
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile)
|
rs727504406
|
|
|
NM_003242.6(TGFBR2):c.467G>T (p.Ser156Ile)
|
rs1699338540
|
|
|
NM_003242.6(TGFBR2):c.476_483del (p.Asp159fs)
|
rs1699338750
|
|
|
NM_003242.6(TGFBR2):c.497A>G (p.Gln166Arg)
|
rs770804409
|
|
|
NM_003242.6(TGFBR2):c.506G>T (p.Gly169Val)
|
rs1699339733
|
|
|
NM_003242.6(TGFBR2):c.516C>G (p.Leu172=)
|
rs1301321642
|
|
|
NM_003242.6(TGFBR2):c.522A>G (p.Pro174=)
|
rs760268589
|
|
|
NM_003242.6(TGFBR2):c.528G>A (p.Leu176=)
|
rs1303407125
|
|
|
NM_003242.6(TGFBR2):c.538A>G (p.Ile180Val)
|
rs1699340728
|
|
|
NM_003242.6(TGFBR2):c.547A>G (p.Ile183Val)
|
|
|
|
NM_003242.6(TGFBR2):c.54G>A (p.Thr18=)
|
rs139456857
|
|
|
NM_003242.6(TGFBR2):c.550A>C (p.Ile184Leu)
|
rs1371905176
|
|
|
NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val)
|
rs1371905176
|
|
|
NM_003242.6(TGFBR2):c.558C>T (p.Phe186=)
|
rs1699341468
|
|
|
NM_003242.6(TGFBR2):c.562T>G (p.Cys188Gly)
|
|
|
|
NM_003242.6(TGFBR2):c.56G>A (p.Arg19His)
|
rs763085648
|
|
|
NM_003242.6(TGFBR2):c.573T>C (p.Val191=)
|
rs1699342145
|
|
|
NM_003242.6(TGFBR2):c.581A>T (p.Gln194Leu)
|
rs2125433612
|
|
|
NM_003242.6(TGFBR2):c.588G>A (p.Lys196=)
|
rs1699342472
|
|
|
NM_003242.6(TGFBR2):c.58A>G (p.Ile20Val)
|
rs1697933766
|
|
|
NM_003242.6(TGFBR2):c.604G>A (p.Glu202Lys)
|
rs1699342734
|
|
|
NM_003242.6(TGFBR2):c.615G>A (p.Lys205=)
|
|
|
|
NM_003242.6(TGFBR2):c.620G>C (p.Arg207Pro)
|
rs371209879
|
|
|
NM_003242.6(TGFBR2):c.624G>A (p.Lys208=)
|
rs1699343412
|
|
|
NM_003242.6(TGFBR2):c.625C>A (p.Leu209Ile)
|
|
|
|
NM_003242.6(TGFBR2):c.625C>T (p.Leu209Phe)
|
rs1288771489
|
|
|
NM_003242.6(TGFBR2):c.630G>A (p.Met210Ile)
|
rs1699343672
|
|
|
NM_003242.6(TGFBR2):c.633G>A (p.Glu211=)
|
rs1699343725
|
|
|
NM_003242.6(TGFBR2):c.634T>C (p.Phe212Leu)
|
rs1699343778
|
|
|
NM_003242.6(TGFBR2):c.642G>A (p.Glu214=)
|
rs750009827
|
|
|
NM_003242.6(TGFBR2):c.647G>A (p.Cys216Tyr)
|
rs1699344317
|
|
|
NM_003242.6(TGFBR2):c.648T>C (p.Cys216=)
|
rs2125433850
|
|
|
NM_003242.6(TGFBR2):c.656T>A (p.Ile219Asn)
|
rs2125433876
|
|
|
NM_003242.6(TGFBR2):c.686C>T (p.Ser229Phe)
|
|
|
|
NM_003242.6(TGFBR2):c.750G>C (p.Val250=)
|
|
|
|
NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser)
|
rs1559466824
|
|
|
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)
|
rs863223856
|
|
|
NM_003242.6(TGFBR2):c.770A>G (p.Glu257Gly)
|
rs2125434288
|
|
|
NM_003242.6(TGFBR2):c.786G>A (p.Lys262=)
|
|
|
|
NM_003242.6(TGFBR2):c.795G>T (p.Gln265His)
|
rs1412125264
|
|
|
NM_003242.6(TGFBR2):c.809A>G (p.Gln270Arg)
|
rs1699347991
|
|
|
NM_003242.6(TGFBR2):c.842A>T (p.Tyr281Phe)
|
rs1210616464
|
|
|
NM_003242.6(TGFBR2):c.849G>A (p.Glu283=)
|
rs1249816685
|
|
|
NM_003242.6(TGFBR2):c.897G>A (p.Leu299=)
|
rs1699350239
|
|
|
NM_003242.6(TGFBR2):c.8G>A (p.Arg3Gln)
|
rs780267559
|
|
|
NM_003242.6(TGFBR2):c.900G>T (p.Lys300Asn)
|
rs2125434971
|
|
|
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr)
|
rs1553630181
|
|
|
NM_003242.6(TGFBR2):c.937C>G (p.Arg313Gly)
|
|
|
|
NM_003242.6(TGFBR2):c.938G>C (p.Arg313Pro)
|
|
|
|
NM_003242.6(TGFBR2):c.938G>T (p.Arg313Leu)
|
rs200361387
|
|
|
NM_003242.6(TGFBR2):c.94+16256C>T
|
rs143701368
|
|
|
NM_003242.6(TGFBR2):c.948G>A (p.Glu316=)
|
rs1699352075
|
|
|
NM_003242.6(TGFBR2):c.95-3C>G
|
rs375330013
|
|
|
NM_003242.6(TGFBR2):c.95-5_95-3del
|
|
|
|
NM_003242.6(TGFBR2):c.95-7T>G
|
rs764533083
|
|
|
NM_003242.6(TGFBR2):c.960A>C (p.Gln320His)
|
|
|
|
NM_003242.6(TGFBR2):c.964T>C (p.Trp322Arg)
|
|
|
|
NM_003242.6(TGFBR2):c.978C>T (p.Ala326=)
|
rs1575157891
|
|
|
NM_003242.6(TGFBR2):c.98A>G (p.Asn33Ser)
|
rs2125404654
|
|
|
NM_003242.6(TGFBR2):c.993C>T (p.Gly331=)
|
rs1443786366
|
|
|
NM_003242.6(TGFBR2):c.997C>G (p.Leu333Val)
|
rs1699353812
|
|
|
NM_003242.6(TGFBR2):c.9G>A (p.Arg3=)
|
rs1559443648
|
|
|
NM_004415.3(DSP):c.8487_8498del12
|
rs727504704
|
|
|
NM_004415.4(DSP):c.*2A>G
|
|
|
|
NM_004415.4(DSP):c.-15C>T
|
|
|
|
NM_004415.4(DSP):c.-7C>T
|
|
|
|
NM_004415.4(DSP):c.1006C>T (p.Leu336Phe)
|
rs759818187
|
|
|
NM_004415.4(DSP):c.1014C>T (p.Leu338=)
|
rs1351282651
|
|
|
NM_004415.4(DSP):c.102C>T (p.Gly34=)
|
rs763785063
|
|
|
NM_004415.4(DSP):c.1044G>A (p.Glu348=)
|
rs1758868593
|
|
|
NM_004415.4(DSP):c.1047C>T (p.Ala349=)
|
rs1758892420
|
|
|
NM_004415.4(DSP):c.1052T>C (p.Met351Thr)
|
rs2113672417
|
|
|
NM_004415.4(DSP):c.1059T>A (p.Thr353=)
|
rs1758893141
|
|
|
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)
|
rs780626687
|
|
|
NM_004415.4(DSP):c.1067C>T (p.Thr356Met)
|
rs780626687
|
|
|
NM_004415.4(DSP):c.1089G>C (p.Gln363His)
|
|
|
|
NM_004415.4(DSP):c.1094C>G (p.Thr365Ser)
|
rs754577019
|
|
|
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile)
|
rs757853478
|
|
|
NM_004415.4(DSP):c.1138C>T (p.Gln380Ter)
|
|
|
|
NM_004415.4(DSP):c.1141-3_1141-2del
|
rs1758908162
|
|
|
NM_004415.4(DSP):c.1146del (p.Phe382fs)
|
rs397516913
|
|
|
NM_004415.4(DSP):c.1150G>C (p.Glu384Gln)
|
rs1758908778
|
|
|
NM_004415.4(DSP):c.1161T>C (p.Ser387=)
|
rs1758909456
|
|
|
NM_004415.4(DSP):c.1185C>T (p.Leu395=)
|
rs1758910335
|
|
|
NM_004415.4(DSP):c.1216G>A (p.Asp406Asn)
|
rs1758911711
|
|
|
NM_004415.4(DSP):c.1221G>A (p.Lys407=)
|
rs1758911822
|
|
|
NM_004415.4(DSP):c.1226T>C (p.Met409Thr)
|
rs1758912290
|
|
|
NM_004415.4(DSP):c.1230C>T (p.Pro410=)
|
rs1003925581
|
|
|
NM_004415.4(DSP):c.1237C>T (p.His413Tyr)
|
|
|
|
NM_004415.4(DSP):c.1239C>A (p.His413Gln)
|
|
|
|
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter)
|
rs1057523045
|
|
|
NM_004415.4(DSP):c.1240C>G (p.Leu414Val)
|
rs1758912999
|
|
|
NM_004415.4(DSP):c.1255A>G (p.Lys419Glu)
|
|
|
|
NM_004415.4(DSP):c.1263G>A (p.Leu421=)
|
rs727504492
|
|
|
NM_004415.4(DSP):c.1264G>A (p.Glu422Lys)
|
rs397516914
|
|
|
NM_004415.4(DSP):c.1266+3_1266+4dup
|
rs1758913922
|
|
|
NM_004415.4(DSP):c.1266+6G>A
|
rs73375345
|
|
|
NM_004415.4(DSP):c.1266+6G>T
|
rs73375345
|
|
|
NM_004415.4(DSP):c.1267-7A>G
|
rs1758927765
|
|
|
NM_004415.4(DSP):c.128C>T (p.Ser43Phe)
|
rs1757997664
|
|
|
NM_004415.4(DSP):c.1292A>G (p.Tyr431Cys)
|
rs1758929629
|
|
|
NM_004415.4(DSP):c.12C>G (p.Asn4Lys)
|
rs368802003
|
|
|
NM_004415.4(DSP):c.12C>T (p.Asn4=)
|
rs368802003
|
|
|
NM_004415.4(DSP):c.1329G>A (p.Lys443=)
|
rs767785995
|
|
|
NM_004415.4(DSP):c.1379C>T (p.Pro460Leu)
|
rs757300149
|
|
|
NM_004415.4(DSP):c.1386del (p.Leu463fs)
|
rs1758933837
|
|
|
NM_004415.4(DSP):c.1398C>G (p.Leu466=)
|
rs1465847887
|
|
|
NM_004415.4(DSP):c.1416T>G (p.Asp472Glu)
|
rs1758935121
|
|
|
NM_004415.4(DSP):c.141G>C (p.Val47=)
|
rs2113629091
|
|
|
NM_004415.4(DSP):c.1420-9G>C
|
rs1758956235
|
|
|
NM_004415.4(DSP):c.1425C>T (p.Ile475=)
|
rs1329910838
|
|
|
NM_004415.4(DSP):c.1426G>A (p.Val476Met)
|
rs367987327
|
|
|
NM_004415.4(DSP):c.142A>G (p.Ile48Val)
|
rs1757998776
|
|
|
NM_004415.4(DSP):c.1435G>C (p.Gly479Arg)
|
rs1288305110
|
|
|
NM_004415.4(DSP):c.1463A>G (p.Asn488Ser)
|
|
|
|
NM_004415.4(DSP):c.1464C>T (p.Asn488=)
|
rs768526275
|
|
|
NM_004415.4(DSP):c.146C>T (p.Thr49Ile)
|
rs151153655
|
|
|
NM_004415.4(DSP):c.147C>G (p.Thr49=)
|
|
|
|
NM_004415.4(DSP):c.148G>C (p.Asp50His)
|
|
|
|
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala)
|
rs1581803474
|
|
|
NM_004415.4(DSP):c.1500C>T (p.Gly500=)
|
rs762086998
|
|
|
NM_004415.4(DSP):c.1504G>A (p.Asp502Asn)
|
rs750547425
|
|
|
NM_004415.4(DSP):c.1518C>T (p.Pro506=)
|
|
|
|
NM_004415.4(DSP):c.1519T>C (p.Ser507Pro)
|
rs1758967074
|
|
|
NM_004415.4(DSP):c.153G>C (p.Gln51His)
|
rs1450725914
|
|
|
NM_004415.4(DSP):c.1548C>G (p.Asn516Lys)
|
rs1407207091
|
|
|
NM_004415.4(DSP):c.154A>G (p.Asn52Asp)
|
rs2113629165
|
|
|
NM_004415.4(DSP):c.1563C>A (p.Asp521Glu)
|
rs113378925
|
|
|
NM_004415.4(DSP):c.1574A>G (p.Lys525Arg)
|
|
|
|
NM_004415.4(DSP):c.1577T>C (p.Ile526Thr)
|
rs1561689358
|
|
|
NM_004415.4(DSP):c.157T>C (p.Ser53Pro)
|
rs397516918
|
|
|
NM_004415.4(DSP):c.157T>G (p.Ser53Ala)
|
rs397516918
|
|
|
NM_004415.4(DSP):c.1587C>T (p.Tyr529=)
|
rs2113677271
|
|
|
NM_004415.4(DSP):c.158C>T (p.Ser53Leu)
|
rs1398517175
|
|
|
NM_004415.4(DSP):c.1601T>C (p.Leu534Ser)
|
rs1759009878
|
|
|
NM_004415.4(DSP):c.1603G>A (p.Ala535Thr)
|
rs777088675
|
|
|
NM_004415.4(DSP):c.1614C>G (p.Asn538Lys)
|
rs1759010824
|
|
|
NM_004415.4(DSP):c.162C>T (p.Asp54=)
|
rs1057113375
|
|
|
NM_004415.4(DSP):c.1672G>C (p.Glu558Gln)
|
|
|
|
NM_004415.4(DSP):c.167A>G (p.Tyr56Cys)
|
|
|
|
NM_004415.4(DSP):c.170+3G>A
|
rs1758001924
|
|
|
NM_004415.4(DSP):c.1701+6T>C
|
rs1759015188
|
|
|
NM_004415.4(DSP):c.1707A>G (p.Lys569=)
|
rs1759045455
|
|
|
NM_004415.4(DSP):c.171-6C>T
|
rs2113653683
|
|
|
NM_004415.4(DSP):c.1729A>C (p.Met577Leu)
|
rs764127243
|
|
|
NM_004415.4(DSP):c.1736C>T (p.Thr579Met)
|
|
|
|
NM_004415.4(DSP):c.1743C>A (p.Ala581=)
|
rs139095230
|
|
|
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile)
|
rs1759048949
|
|
|
NM_004415.4(DSP):c.177C>T (p.Thr59=)
|
rs376873185
|
|
|
NM_004415.4(DSP):c.1806T>C (p.Asp602=)
|
rs560969680
|
|
|
NM_004415.4(DSP):c.1817G>A (p.Arg606Gln)
|
rs576661499
|
|
|
NM_004415.4(DSP):c.1824A>T (p.Ile608=)
|
rs776461292
|
|
|
NM_004415.4(DSP):c.1826A>G (p.Gln609Arg)
|
|
|
|
NM_004415.4(DSP):c.1833G>C (p.Gln611His)
|
|
|
|
NM_004415.4(DSP):c.1851G>A (p.Lys617=)
|
rs1759052144
|
|
|
NM_004415.4(DSP):c.185T>C (p.Met62Thr)
|
rs1758488043
|
|
|
NM_004415.4(DSP):c.186G>A (p.Met62Ile)
|
rs1758488135
|
|
|
NM_004415.4(DSP):c.1874A>T (p.Gln625Leu)
|
rs1759053331
|
|
|
NM_004415.4(DSP):c.1880C>T (p.Pro627Leu)
|
rs2113679213
|
|
|
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter)
|
rs1464886350
|
|
|
NM_004415.4(DSP):c.1903+3C>T
|
rs754326012
|
|
|
NM_004415.4(DSP):c.1903+3del
|
rs1064793548
|
|
|
NM_004415.4(DSP):c.1920C>G (p.Ile640Met)
|
rs74806300
|
|
|
NM_004415.4(DSP):c.1924C>T (p.His642Tyr)
|
rs1759063948
|
|
|
NM_004415.4(DSP):c.1927C>G (p.His643Asp)
|
rs1759064034
|
|
|
NM_004415.4(DSP):c.1928A>G (p.His643Arg)
|
rs1759064128
|
|
|
NM_004415.4(DSP):c.192G>T (p.Arg64Ser)
|
rs908789038
|
|
|
NM_004415.4(DSP):c.1937G>A (p.Cys646Tyr)
|
rs977527385
|
|
|
NM_004415.4(DSP):c.1938C>T (p.Cys646=)
|
rs1759064440
|
|
|
NM_004415.4(DSP):c.1943A>T (p.Asp648Val)
|
rs1759064728
|
|
|
NM_004415.4(DSP):c.1952A>G (p.His651Arg)
|
rs1759065265
|
|
|
NM_004415.4(DSP):c.1970C>T (p.Thr657Ile)
|
rs1014373689
|
|
|
NM_004415.4(DSP):c.1976_1987del (p.Arg659_Asp662del)
|
rs1554107128
|
|
|
NM_004415.4(DSP):c.1978_1979del (p.Glu660fs)
|
|
|
|
NM_004415.4(DSP):c.1984G>A (p.Asp662Asn)
|
rs1759067108
|
|
|
NM_004415.4(DSP):c.1999T>C (p.Trp667Arg)
|
rs1411393602
|
|
|
NM_004415.4(DSP):c.1A>G (p.Met1Val)
|
rs1131691557
|
|
|
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly)
|
rs758530970
|
|
|
NM_004415.4(DSP):c.2031G>A (p.Arg677=)
|
rs201262774
|
|
|
NM_004415.4(DSP):c.2035A>G (p.Ile679Val)
|
rs1759070407
|
|
|
NM_004415.4(DSP):c.2059A>T (p.Thr687Ser)
|
|
|
|
NM_004415.4(DSP):c.2085C>T (p.Asp695=)
|
rs751917053
|
|
|
NM_004415.4(DSP):c.2087A>G (p.Gln696Arg)
|
rs1759072711
|
|
|
NM_004415.4(DSP):c.209C>T (p.Thr70Ile)
|
rs2113653829
|
|
|
NM_004415.4(DSP):c.2130+1G>A
|
rs727505115
|
|
|
NM_004415.4(DSP):c.2130+6dup
|
rs1759074746
|
|
|
NM_004415.4(DSP):c.2131-3_2131del
|
|
|
|
NM_004415.4(DSP):c.2132G>A (p.Ser711Asn)
|
|
|
|
NM_004415.4(DSP):c.2134G>T (p.Val712Leu)
|
rs397516922
|
|
|
NM_004415.4(DSP):c.2153C>T (p.Ala718Val)
|
rs764290255
|
|
|
NM_004415.4(DSP):c.2155A>C (p.Ile719Leu)
|
rs1057520654
|
|
|
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys)
|
rs963374775
|
|
|
NM_004415.4(DSP):c.2164G>A (p.Val722Ile)
|
rs1581808686
|
|
|
NM_004415.4(DSP):c.2164G>T (p.Val722Phe)
|
rs1581808686
|
|
|
NM_004415.4(DSP):c.2168T>C (p.Leu723Pro)
|
rs1554107443
|
|
|
NM_004415.4(DSP):c.2171A>G (p.Asn724Ser)
|
rs757299922
|
|
|
NM_004415.4(DSP):c.2184T>C (p.Asp728=)
|
rs750383681
|
|
|
NM_004415.4(DSP):c.2186T>A (p.Met729Lys)
|
rs758200210
|
|
|
NM_004415.4(DSP):c.2196C>G (p.Asn732Lys)
|
rs1424884336
|
|
|
NM_004415.4(DSP):c.2205T>C (p.Gly735=)
|
rs1561692450
|
|
|
NM_004415.4(DSP):c.2208T>A (p.Ser736=)
|
|
|
|
NM_004415.4(DSP):c.2221_2223delinsCAG (p.Tyr741Gln)
|
|
|
|
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala)
|
rs969462343
|
|
|
NM_004415.4(DSP):c.2259G>A (p.Leu753=)
|
rs1759156637
|
|
|
NM_004415.4(DSP):c.2298-10C>T
|
rs1057522919
|
|
|
NM_004415.4(DSP):c.2298-11G>C
|
|
|
|
NM_004415.4(DSP):c.2298-5T>C
|
rs969832224
|
|
|
NM_004415.4(DSP):c.2299T>G (p.Leu767Val)
|
rs1561692940
|
|
|
NM_004415.4(DSP):c.2303G>A (p.Cys768Tyr)
|
rs1759176721
|
|
|
NM_004415.4(DSP):c.2308G>C (p.Val770Leu)
|
rs1225927424
|
|
|
NM_004415.4(DSP):c.2320C>T (p.Leu774Phe)
|
|
|
|
NM_004415.4(DSP):c.2326G>A (p.Ala776Thr)
|
rs1759178969
|
|
|
NM_004415.4(DSP):c.2333T>C (p.Leu778Pro)
|
rs1337668206
|
|
|
NM_004415.4(DSP):c.2348T>C (p.Met783Thr)
|
|
|
|
NM_004415.4(DSP):c.2353A>C (p.Lys785Gln)
|
rs1759181057
|
|
|
NM_004415.4(DSP):c.2390T>C (p.Val797Ala)
|
rs2113684220
|
|
|
NM_004415.4(DSP):c.2403G>A (p.Leu801=)
|
rs1759182985
|
|
|
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)
|
rs770105310
|
|
|
NM_004415.4(DSP):c.2412G>A (p.Val804=)
|
rs773330932
|
|
|
NM_004415.4(DSP):c.2435A>T (p.Lys812Met)
|
rs1268969488
|
|
|
NM_004415.4(DSP):c.2437-1G>C
|
rs1057517903
|
|
|
NM_004415.4(DSP):c.243C>T (p.Cys81=)
|
rs947998304
|
|
|
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr)
|
rs1393048121
|
|
|
NM_004415.4(DSP):c.2450A>C (p.Asp817Ala)
|
|
|
|
NM_004415.4(DSP):c.2489C>T (p.Thr830Ile)
|
|
|
|
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)
|
rs1057518920
|
|
|
NM_004415.4(DSP):c.2528C>T (p.Ser843Leu)
|
rs1057518920
|
|
|
NM_004415.4(DSP):c.2538T>C (p.Tyr846=)
|
rs765837163
|
|
|
NM_004415.4(DSP):c.2540C>G (p.Pro847Arg)
|
rs727504657
|
|
|
NM_004415.4(DSP):c.2549A>G (p.Asp850Gly)
|
rs1759208321
|
|
|
NM_004415.4(DSP):c.2555A>G (p.Asp852Gly)
|
rs1561693903
|
|
|
NM_004415.4(DSP):c.2575A>G (p.Lys859Glu)
|
rs1759209975
|
|
|
NM_004415.4(DSP):c.2580C>T (p.Val860=)
|
rs1759210274
|
|
|
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile)
|
rs1759210367
|
|
|
NM_004415.4(DSP):c.2613T>C (p.Asp871=)
|
rs1759212109
|
|
|
NM_004415.4(DSP):c.2619G>A (p.Gln873=)
|
|
|
|
NM_004415.4(DSP):c.2620A>T (p.Ile874Phe)
|
rs1759212430
|
|
|
NM_004415.4(DSP):c.2623G>A (p.Asp875Asn)
|
rs200338012
|
|
|
NM_004415.4(DSP):c.2623G>C (p.Asp875His)
|
rs200338012
|
|
|
NM_004415.4(DSP):c.2628T>C (p.Phe876=)
|
rs1759212674
|
|
|
NM_004415.4(DSP):c.2631-10T>A
|
rs369840498
|
|
|
NM_004415.4(DSP):c.2631-13dup
|
rs1455610668
|
|
|
NM_004415.4(DSP):c.2631-3C>T
|
rs1041054817
|
|
|
NM_004415.4(DSP):c.2631-3dup
|
rs1759237078
|
|
|
NM_004415.4(DSP):c.2661A>G (p.Gln887=)
|
rs2113686490
|
|
|
NM_004415.4(DSP):c.2674C>G (p.Arg892Gly)
|
rs750800025
|
|
|
NM_004415.4(DSP):c.2687A>G (p.Gln896Arg)
|
rs2113686568
|
|
|
NM_004415.4(DSP):c.2723G>T (p.Arg908Leu)
|
rs142494121
|
|
|
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter)
|
rs1561694696
|
|
|
NM_004415.4(DSP):c.2736A>G (p.Leu912=)
|
rs2113686692
|
|
|
NM_004415.4(DSP):c.274-11T>C
|
|
|
|
NM_004415.4(DSP):c.2743A>T (p.Met915Leu)
|
rs1317345069
|
|
|
NM_004415.4(DSP):c.2758T>C (p.Ser920Pro)
|
rs373804924
|
|
|
NM_004415.4(DSP):c.2759C>T (p.Ser920Phe)
|
rs1481929065
|
|
|
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile)
|
rs755099716
|
|
|
NM_004415.4(DSP):c.2769C>T (p.Val923=)
|
rs767744438
|
|
|
NM_004415.4(DSP):c.2770A>G (p.Met924Val)
|
rs2113686779
|
|
|
NM_004415.4(DSP):c.277T>C (p.Leu93=)
|
rs1561680562
|
|
|
NM_004415.4(DSP):c.2794-7T>C
|
rs397516926
|
|
|
NM_004415.4(DSP):c.279G>C (p.Leu93Phe)
|
rs1447901875
|
|
|
NM_004415.4(DSP):c.2817C>G (p.Gly939=)
|
rs1759259923
|
|
|
NM_004415.4(DSP):c.2823A>T (p.Arg941=)
|
|
|
|
NM_004415.4(DSP):c.2826C>T (p.Asp942=)
|
rs1759260408
|
|
|
NM_004415.4(DSP):c.2834A>G (p.Glu945Gly)
|
rs1759260761
|
|
|
NM_004415.4(DSP):c.2852C>T (p.Ala951Val)
|
rs1418218757
|
|
|
NM_004415.4(DSP):c.2863G>A (p.Ala955Thr)
|
rs190421916
|
|
|
NM_004415.4(DSP):c.286G>A (p.Gly96Arg)
|
rs2113657461
|
|
|
NM_004415.4(DSP):c.2878-2A>T
|
rs1759285602
|
|
|
NM_004415.4(DSP):c.2879A>G (p.Asp960Gly)
|
|
|
|
NM_004415.4(DSP):c.287G>C (p.Gly96Ala)
|
rs748070943
|
|
|
NM_004415.4(DSP):c.2887C>T (p.Leu963Phe)
|
rs779931043
|
|
|
NM_004415.4(DSP):c.2932A>G (p.Ile978Val)
|
rs780823789
|
|
|
NM_004415.4(DSP):c.2951T>A (p.Met984Lys)
|
rs1452300736
|
|
|
NM_004415.4(DSP):c.2967T>G (p.Ser989=)
|
rs1338136683
|
|
|
NM_004415.4(DSP):c.2986G>C (p.Ala996Pro)
|
rs1254054471
|
|
|
NM_004415.4(DSP):c.2986G>T (p.Ala996Ser)
|
rs1254054471
|
|
|
NM_004415.4(DSP):c.2994T>G (p.Asp998Glu)
|
rs755610951
|
|
|
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln)
|
rs371234425
|
|
|
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro)
|
rs371234425
|
|
|
NM_004415.4(DSP):c.3006G>A (p.Arg1002=)
|
rs1759317112
|
|
|
NM_004415.4(DSP):c.3010A>G (p.Ile1004Val)
|
rs1561696251
|
|
|
NM_004415.4(DSP):c.3018A>G (p.Leu1006=)
|
rs375412541
|
|
|
NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe)
|
rs1018173692
|
|
|
NM_004415.4(DSP):c.3023C>T (p.Thr1008Ile)
|
rs1334187363
|
|
|
NM_004415.4(DSP):c.3048C>T (p.Phe1016=)
|
rs1299556752
|
|
|
NM_004415.4(DSP):c.3049T>C (p.Leu1017=)
|
rs1759319034
|
|
|
NM_004415.4(DSP):c.3069T>C (p.Ser1023=)
|
|
|
|
NM_004415.4(DSP):c.3075A>C (p.Glu1025Asp)
|
|
|
|
NM_004415.4(DSP):c.3085-3_3085delinsTTCGATCT
|
|
|
|
NM_004415.4(DSP):c.3099G>T (p.Lys1033Asn)
|
rs1581814913
|
|
|
NM_004415.4(DSP):c.311G>A (p.Ser104Asn)
|
|
|
|
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val)
|
rs397516931
|
|
|
NM_004415.4(DSP):c.3155G>T (p.Cys1052Phe)
|
rs2113691184
|
|
|
NM_004415.4(DSP):c.3167A>G (p.Lys1056Arg)
|
|
|
|
NM_004415.4(DSP):c.3194A>T (p.Tyr1065Phe)
|
rs1759343554
|
|
|
NM_004415.4(DSP):c.3218A>T (p.Lys1073Ile)
|
rs1759344349
|
|
|
NM_004415.4(DSP):c.3228T>C (p.Leu1076=)
|
rs1759344945
|
|
|
NM_004415.4(DSP):c.3254A>T (p.Gln1085Leu)
|
rs2113691330
|
|
|
NM_004415.4(DSP):c.3261G>A (p.Glu1087=)
|
rs1045685133
|
|
|
NM_004415.4(DSP):c.3276G>A (p.Ser1092=)
|
rs202057409
|
|
|
NM_004415.4(DSP):c.3276G>C (p.Ser1092=)
|
rs202057409
|
|
|
NM_004415.4(DSP):c.3282G>C (p.Lys1094Asn)
|
rs2491080
|
|
|
NM_004415.4(DSP):c.3298T>C (p.Cys1100Arg)
|
rs757539604
|
|
|
NM_004415.4(DSP):c.3298T>G (p.Cys1100Gly)
|
rs757539604
|
|
|
NM_004415.4(DSP):c.3301T>C (p.Tyr1101His)
|
rs1759347959
|
|
|
NM_004415.4(DSP):c.3304G>C (p.Gly1102Arg)
|
|
|
|
NM_004415.4(DSP):c.3310A>C (p.Ile1104Leu)
|
|
|
|
NM_004415.4(DSP):c.3316G>T (p.Glu1106Ter)
|
rs1131691673
|
|
|
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys)
|
rs367763339
|
|
|
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)
|
rs746877365
|
|
|
NM_004415.4(DSP):c.3339A>T (p.Arg1113=)
|
|
|
|
NM_004415.4(DSP):c.3341T>C (p.Leu1114Pro)
|
rs1759349625
|
|
|
NM_004415.4(DSP):c.3344C>T (p.Thr1115Ile)
|
rs1393151720
|
|
|
NM_004415.4(DSP):c.3351G>A (p.Glu1117=)
|
rs1759350245
|
|
|
NM_004415.4(DSP):c.3370A>C (p.Arg1124=)
|
|
|
|
NM_004415.4(DSP):c.3408_3409delinsAG (p.Asn1137Asp)
|
rs1759352206
|
|
|
NM_004415.4(DSP):c.3423A>C (p.Gln1141His)
|
rs759288257
|
|
|
NM_004415.4(DSP):c.3429G>C (p.Gln1143His)
|
rs1759353161
|
|
|
NM_004415.4(DSP):c.342C>T (p.Ala114=)
|
|
|
|
NM_004415.4(DSP):c.3456C>A (p.Asn1152Lys)
|
|
|
|
NM_004415.4(DSP):c.3461G>A (p.Gly1154Asp)
|
rs2113691810
|
|
|
NM_004415.4(DSP):c.3462T>A (p.Gly1154=)
|
rs1554108086
|
|
|
NM_004415.4(DSP):c.3465G>C (p.Trp1155Cys)
|
rs1759354150
|
|
|
NM_004415.4(DSP):c.3468G>A (p.Gln1156=)
|
rs947354271
|
|
|
NM_004415.4(DSP):c.3490A>G (p.Ile1164Val)
|
|
|
|
NM_004415.4(DSP):c.34A>C (p.Asn12His)
|
rs1757990554
|
|
|
NM_004415.4(DSP):c.3504G>T (p.Glu1168Asp)
|
rs1490403808
|
|
|
NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr)
|
rs762449180
|
|
|
NM_004415.4(DSP):c.3521T>C (p.Leu1174Ser)
|
|
|
|
NM_004415.4(DSP):c.3526G>A (p.Val1176Ile)
|
|
|
|
NM_004415.4(DSP):c.3536A>G (p.Gln1179Arg)
|
rs1759357846
|
|
|
NM_004415.4(DSP):c.3544G>C (p.Gly1182Arg)
|
rs1581815823
|
|
|
NM_004415.4(DSP):c.3546C>A (p.Gly1182=)
|
rs1355395147
|
|
|
NM_004415.4(DSP):c.3557G>A (p.Arg1186Lys)
|
rs1223608451
|
|
|
NM_004415.4(DSP):c.3565G>A (p.Glu1189Lys)
|
rs866149042
|
|
|
NM_004415.4(DSP):c.3573G>A (p.Glu1191=)
|
rs750659892
|
|
|
NM_004415.4(DSP):c.3625A>C (p.Lys1209Gln)
|
rs1283110287
|
|
|
NM_004415.4(DSP):c.3626A>G (p.Lys1209Arg)
|
rs1759361771
|
|
|
NM_004415.4(DSP):c.3633A>C (p.Glu1211Asp)
|
rs1759362068
|
|
|
NM_004415.4(DSP):c.3642T>G (p.Ile1214Met)
|
rs755908729
|
|
|
NM_004415.4(DSP):c.3696C>G (p.Ser1232=)
|
rs141120358
|
|
|
NM_004415.4(DSP):c.3704T>C (p.Leu1235Pro)
|
rs1356943828
|
|
|
NM_004415.4(DSP):c.3712C>A (p.Gln1238Lys)
|
rs767519046
|
|
|
NM_004415.4(DSP):c.3720T>C (p.Asp1240=)
|
rs1759365530
|
|
|
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs)
|
rs1554108152
|
|
|
NM_004415.4(DSP):c.3738T>C (p.Asn1246=)
|
|
|
|
NM_004415.4(DSP):c.3757A>T (p.Ile1253Phe)
|
|
|
|
NM_004415.4(DSP):c.3759T>G (p.Ile1253Met)
|
rs1196416496
|
|
|
NM_004415.4(DSP):c.3763A>G (p.Arg1255Gly)
|
rs1477870659
|
|
|
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys)
|
rs777407386
|
|
|
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser)
|
rs1561697968
|
|
|
NM_004415.4(DSP):c.3784C>G (p.Gln1262Glu)
|
rs2113692628
|
|
|
NM_004415.4(DSP):c.3790A>G (p.Thr1264Ala)
|
|
|
|
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)
|
rs121912997
|
|
|
NM_004415.4(DSP):c.3804G>A (p.Arg1268=)
|
rs1759369971
|
|
|
NM_004415.4(DSP):c.3805C>G (p.Arg1269Gly)
|
|
|
|
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)
|
rs876657795
|
|
|
NM_004415.4(DSP):c.3822C>T (p.Ala1274=)
|
rs1759370826
|
|
|
NM_004415.4(DSP):c.3835G>T (p.Ala1279Ser)
|
rs763915365
|
|
|
NM_004415.4(DSP):c.3864G>T (p.Lys1288Asn)
|
rs768166626
|
|
|
NM_004415.4(DSP):c.3880G>A (p.Glu1294Lys)
|
|
|
|
NM_004415.4(DSP):c.3918T>C (p.Asn1306=)
|
rs761749643
|
|
|
NM_004415.4(DSP):c.3919G>T (p.Ala1307Ser)
|
|
|
|
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser)
|
rs138599871
|
|
|
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)
|
rs138599871
|
|
|
NM_004415.4(DSP):c.397C>G (p.Gln133Glu)
|
|
|
|
NM_004415.4(DSP):c.3981C>A (p.Ile1327=)
|
rs397516934
|
|
|
NM_004415.4(DSP):c.3981C>G (p.Ile1327Met)
|
rs397516934
|
|
|
NM_004415.4(DSP):c.3982G>A (p.Glu1328Lys)
|
rs746208168
|
|
|
NM_004415.4(DSP):c.3985A>G (p.Arg1329Gly)
|
|
|
|
NM_004415.4(DSP):c.3989T>A (p.Leu1330His)
|
|
|
|
NM_004415.4(DSP):c.4018C>G (p.Arg1340Gly)
|
rs768628788
|
|
|
NM_004415.4(DSP):c.4018C>T (p.Arg1340Cys)
|
rs768628788
|
|
|
NM_004415.4(DSP):c.4022G>T (p.Arg1341Leu)
|
|
|
|
NM_004415.4(DSP):c.4029A>G (p.Glu1343=)
|
rs766215175
|
|
|
NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala)
|
rs201964660
|
|
|
NM_004415.4(DSP):c.4069GAG[1] (p.Glu1358del)
|
rs777457799
|
|
|
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp)
|
rs569786610
|
|
|
NM_004415.4(DSP):c.4085T>A (p.Leu1362Ter)
|
rs1759383581
|
|
|
NM_004415.4(DSP):c.4104C>T (p.Thr1368=)
|
rs1464715776
|
|
|
NM_004415.4(DSP):c.4107_4108delinsTG (p.Glu1369_Ile1370delinsAspVal)
|
rs1759384287
|
|
|
NM_004415.4(DSP):c.411T>G (p.Ala137=)
|
rs745536008
|
|
|
NM_004415.4(DSP):c.4130T>A (p.Ile1377Asn)
|
rs1215591946
|
|
|
NM_004415.4(DSP):c.4172A>C (p.Tyr1391Ser)
|
rs727504547
|
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
|
NM_004415.4(DSP):c.4201G>C (p.Glu1401Gln)
|
rs774065012
|
|
|
NM_004415.4(DSP):c.4209G>A (p.Arg1403=)
|
rs1561698567
|
|
|
NM_004415.4(DSP):c.4211G>A (p.Ser1404Asn)
|
rs1759389281
|
|
|
NM_004415.4(DSP):c.4213T>C (p.Leu1405=)
|
rs1451895767
|
|
|
NM_004415.4(DSP):c.422+3A>G
|
rs1758564707
|
|
|
NM_004415.4(DSP):c.423-11T>A
|
rs1758598034
|
|
|
NM_004415.4(DSP):c.4252C>G (p.Gln1418Glu)
|
|
|
|
NM_004415.4(DSP):c.4259C>T (p.Thr1420Ile)
|
|
|
|
NM_004415.4(DSP):c.4261G>A (p.Glu1421Lys)
|
rs769965019
|
|
|
NM_004415.4(DSP):c.4275G>A (p.Arg1425=)
|
rs763489227
|
|
|
NM_004415.4(DSP):c.4305C>A (p.Ala1435=)
|
|
|
|
NM_004415.4(DSP):c.4322C>G (p.Ser1441Cys)
|
|
|
|
NM_004415.4(DSP):c.4337A>G (p.Gln1446Arg)
|
|
|
|
NM_004415.4(DSP):c.434T>A (p.Leu145His)
|
|
|
|
NM_004415.4(DSP):c.4350G>A (p.Glu1450=)
|
rs1561698730
|
|
|
NM_004415.4(DSP):c.4355G>T (p.Arg1452Ile)
|
|
|
|
NM_004415.4(DSP):c.4372C>A (p.Arg1458=)
|
rs28763965
|
|
|
NM_004415.4(DSP):c.4384A>G (p.Ser1462Gly)
|
rs1759397094
|
|
|
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile)
|
rs730880090
|
|
|
NM_004415.4(DSP):c.4403C>G (p.Ser1468Cys)
|
rs1759398862
|
|
|
NM_004415.4(DSP):c.4405C>G (p.Leu1469Val)
|
rs752121953
|
|
|
NM_004415.4(DSP):c.4420A>G (p.Lys1474Glu)
|
rs1235007628
|
|
|
NM_004415.4(DSP):c.4421A>G (p.Lys1474Arg)
|
rs756456881
|
|
|
NM_004415.4(DSP):c.4428C>T (p.Ile1476=)
|
rs754071010
|
|
|
NM_004415.4(DSP):c.4434T>C (p.Asp1478=)
|
rs2113694074
|
|
|
NM_004415.4(DSP):c.4441A>G (p.Lys1481Glu)
|
rs1759400634
|
|
|
NM_004415.4(DSP):c.4469T>C (p.Ile1490Thr)
|
rs1169999963
|
|
|
NM_004415.4(DSP):c.4490G>C (p.Arg1497Pro)
|
|
|
|
NM_004415.4(DSP):c.4502A>G (p.Glu1501Gly)
|
rs1759403946
|
|
|
NM_004415.4(DSP):c.4509A>G (p.Glu1503=)
|
rs1350066172
|
|
|
NM_004415.4(DSP):c.4512C>T (p.Asn1504=)
|
rs140993677
|
|
|
NM_004415.4(DSP):c.4515G>A (p.Ala1505=)
|
rs193197554
|
|
|
NM_004415.4(DSP):c.451G>T (p.Ala151Ser)
|
rs1758601354
|
|
|
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del)
|
rs397516939
|
|
|
NM_004415.4(DSP):c.4536T>A (p.Tyr1512Ter)
|
|
|
|
NM_004415.4(DSP):c.4541T>C (p.Leu1514Pro)
|
rs1173680775
|
|
|
NM_004415.4(DSP):c.4552_4553del (p.Asn1518fs)
|
|
|
|
NM_004415.4(DSP):c.4554C>T (p.Asn1518=)
|
rs1359876288
|
|
|
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly)
|
rs780953141
|
|
|
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys)
|
rs780953141
|
|
|
NM_004415.4(DSP):c.4569G>A (p.Glu1523=)
|
rs772831377
|
|
|
NM_004415.4(DSP):c.4571C>A (p.Thr1524Lys)
|
rs397516941
|
|
|
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile)
|
rs397516941
|
|
|
NM_004415.4(DSP):c.4574_4575dup (p.Asn1526Ter)
|
rs2113694437
|
|
|
NM_004415.4(DSP):c.4595A>G (p.Glu1532Gly)
|
rs1759408509
|
|
|
NM_004415.4(DSP):c.4608A>C (p.Thr1536=)
|
rs1759409095
|
|
|
NM_004415.4(DSP):c.4629A>C (p.Glu1543Asp)
|
rs1759410036
|
|
|
NM_004415.4(DSP):c.4636T>C (p.Ser1546Pro)
|
rs1280704171
|
|
|
NM_004415.4(DSP):c.465del (p.Ile156fs)
|
rs1554105911
|
|
|
NM_004415.4(DSP):c.466A>G (p.Ile156Val)
|
|
|
|
NM_004415.4(DSP):c.4678C>G (p.Gln1560Glu)
|
|
|
|
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg)
|
rs796530013
|
|
|
NM_004415.4(DSP):c.4696CTGCAG[1] (p.1566LQ[1])
|
rs1379223945
|
|
|
NM_004415.4(DSP):c.46C>A (p.Arg16Ser)
|
rs754773488
|
|
|
NM_004415.4(DSP):c.4717G>A (p.Val1573Met)
|
rs370171270
|
|
|
NM_004415.4(DSP):c.4748C>T (p.Thr1583Ile)
|
rs778603023
|
|
|
NM_004415.4(DSP):c.4750G>C (p.Ala1584Pro)
|
rs191778417
|
|
|
NM_004415.4(DSP):c.4761C>T (p.Asp1587=)
|
rs2113694837
|
|
|
NM_004415.4(DSP):c.4763_4765del (p.Ser1588del)
|
rs1010996982
|
|
|
NM_004415.4(DSP):c.4787A>G (p.Glu1596Gly)
|
rs2113694907
|
|
|
NM_004415.4(DSP):c.4788A>G (p.Glu1596=)
|
rs1759417158
|
|
|
NM_004415.4(DSP):c.478C>T (p.Arg160Ter)
|
rs397516943
|
|
|
NM_004415.4(DSP):c.4791G>A (p.Glu1597=)
|
|
|
|
NM_004415.4(DSP):c.4796A>G (p.Glu1599Gly)
|
rs1759417690
|
|
|
NM_004415.4(DSP):c.4797del (p.Gly1600fs)
|
rs1759417776
|
|
|
NM_004415.4(DSP):c.47G>A (p.Arg16His)
|
rs752387234
|
|
|
NM_004415.4(DSP):c.47G>C (p.Arg16Pro)
|
rs752387234
|
|
|
NM_004415.4(DSP):c.4842C>T (p.Asn1614=)
|
rs757848942
|
|
|
NM_004415.4(DSP):c.484C>G (p.Arg162Gly)
|
rs760711308
|
|
|
NM_004415.4(DSP):c.4857G>C (p.Leu1619=)
|
rs373385083
|
|
|
NM_004415.4(DSP):c.485G>A (p.Arg162His)
|
rs397516944
|
|
|
NM_004415.4(DSP):c.4866A>G (p.Ala1622=)
|
rs778160298
|
|
|
NM_004415.4(DSP):c.4868C>G (p.Ser1623Cys)
|
rs908086952
|
|
|
NM_004415.4(DSP):c.4870A>G (p.Ile1624Val)
|
|
|
|
NM_004415.4(DSP):c.4875del (p.Lys1626fs)
|
|
|
|
NM_004415.4(DSP):c.4877AGA[1] (p.Lys1627del)
|
|
|
|
NM_004415.4(DSP):c.4879A>G (p.Lys1627Glu)
|
rs774563557
|
|
|
NM_004415.4(DSP):c.4881G>A (p.Lys1627=)
|
|
|
|
NM_004415.4(DSP):c.4894G>A (p.Asp1632Asn)
|
rs747279731
|
|
|
NM_004415.4(DSP):c.4896C>T (p.Asp1632=)
|
|
|
|
NM_004415.4(DSP):c.4899C>T (p.Leu1633=)
|
rs876657459
|
|
|
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp)
|
rs973569441
|
|
|
NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu)
|
rs144106775
|
|
|
NM_004415.4(DSP):c.4910G>T (p.Arg1637Met)
|
rs1759423209
|
|
|
NM_004415.4(DSP):c.4913A>G (p.Asp1638Gly)
|
rs1759423375
|
|
|
NM_004415.4(DSP):c.4919T>G (p.Leu1640Arg)
|
|
|
|
NM_004415.4(DSP):c.4954G>C (p.Glu1652Gln)
|
rs267601119
|
|
|
NM_004415.4(DSP):c.4954dup (p.Glu1652fs)
|
|
|
|
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe)
|
rs202084959
|
|
|
NM_004415.4(DSP):c.4984G>A (p.Glu1662Lys)
|
|
|
|
NM_004415.4(DSP):c.4992G>A (p.Leu1664=)
|
rs772302453
|
|
|
NM_004415.4(DSP):c.5004A>G (p.Leu1668=)
|
|
|
|
NM_004415.4(DSP):c.502G>A (p.Gly168Ser)
|
rs1308747530
|
|
|
NM_004415.4(DSP):c.5030A>C (p.Gln1677Pro)
|
rs1759429222
|
|
|
NM_004415.4(DSP):c.5032G>A (p.Ala1678Thr)
|
rs1759429339
|
|
|
NM_004415.4(DSP):c.5033C>T (p.Ala1678Val)
|
rs1759429468
|
|
|
NM_004415.4(DSP):c.5037C>T (p.His1679=)
|
rs1759429694
|
|
|
NM_004415.4(DSP):c.5064G>A (p.Ala1688=)
|
rs886061747
|
|
|
NM_004415.4(DSP):c.5065A>C (p.Ile1689Leu)
|
rs1043797322
|
|
|
NM_004415.4(DSP):c.506G>C (p.Gly169Ala)
|
rs1758605175
|
|
|
NM_004415.4(DSP):c.5094A>C (p.Glu1698Asp)
|
rs1759431545
|
|
|
NM_004415.4(DSP):c.5107A>T (p.Ile1703Phe)
|
rs868035157
|
|
|
NM_004415.4(DSP):c.5116C>T (p.Leu1706=)
|
rs1759432452
|
|
|
NM_004415.4(DSP):c.5120A>G (p.Gln1707Arg)
|
|
|
|
NM_004415.4(DSP):c.5125C>T (p.Leu1709Phe)
|
rs1759432908
|
|
|
NM_004415.4(DSP):c.512_513delinsAA (p.Gly171Glu)
|
rs1758605814
|
|
|
NM_004415.4(DSP):c.5134A>T (p.Asn1712Tyr)
|
rs2113695647
|
|
|
NM_004415.4(DSP):c.5135A>T (p.Asn1712Ile)
|
rs1759433132
|
|
|
NM_004415.4(DSP):c.5149C>G (p.His1717Asp)
|
rs1759433551
|
|
|
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del)
|
rs730880091
|
|
|
NM_004415.4(DSP):c.5174G>A (p.Arg1725Gln)
|
rs1759434677
|
|
|
NM_004415.4(DSP):c.5197_5198delinsAC (p.Asp1733Thr)
|
rs2113695804
|
|
|
NM_004415.4(DSP):c.5205G>A (p.Arg1735=)
|
rs1561700008
|
|
|
NM_004415.4(DSP):c.5212C>A (p.Arg1738=)
|
|
|
|
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter)
|
rs794728124
|
|
|
NM_004415.4(DSP):c.5223G>C (p.Ala1741=)
|
rs201984474
|
|
|
NM_004415.4(DSP):c.5227A>G (p.Ser1743Gly)
|
rs1759437499
|
|
|
NM_004415.4(DSP):c.5249T>G (p.Leu1750Trp)
|
rs1759438511
|
|
|
NM_004415.4(DSP):c.524A>G (p.Gln175Arg)
|
rs1758606565
|
|
|
NM_004415.4(DSP):c.5257A>C (p.Arg1753=)
|
rs775072446
|
|
|
NM_004415.4(DSP):c.525G>A (p.Gln175=)
|
rs2113659894
|
|
|
NM_004415.4(DSP):c.5265G>C (p.Gln1755His)
|
rs1759438957
|
|
|
NM_004415.4(DSP):c.5289C>G (p.Thr1763=)
|
rs1759439863
|
|
|
NM_004415.4(DSP):c.5299C>T (p.Gln1767Ter)
|
|
|
|
NM_004415.4(DSP):c.52A>C (p.Ile18Leu)
|
|
|
|
NM_004415.4(DSP):c.5315A>G (p.Asp1772Gly)
|
rs1759440895
|
|
|
NM_004415.4(DSP):c.531C>T (p.Gly177=)
|
|
|
|
NM_004415.4(DSP):c.5321A>G (p.Gln1774Arg)
|
|
|
|
NM_004415.4(DSP):c.5326G>A (p.Glu1776Lys)
|
|
|
|
NM_004415.4(DSP):c.5353_5355delinsAAA (p.Glu1785Lys)
|
rs1759442103
|
|
|
NM_004415.4(DSP):c.535G>A (p.Gly179Ser)
|
rs774829433
|
|
|
NM_004415.4(DSP):c.5364A>G (p.Gln1788=)
|
|
|
|
NM_004415.4(DSP):c.5380-4C>G
|
rs756405593
|
|
|
NM_004415.4(DSP):c.5380-9C>T
|
|
|
|
NM_004415.4(DSP):c.5391G>A (p.Arg1797=)
|
rs778745098
|
|
|
NM_004415.4(DSP):c.53T>C (p.Ile18Thr)
|
rs769533657
|
|
|
NM_004415.4(DSP):c.5413T>C (p.Cys1805Arg)
|
rs746731287
|
|
|
NM_004415.4(DSP):c.5414G>T (p.Cys1805Phe)
|
rs768161038
|
|
|
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn)
|
rs730880085
|
|
|
NM_004415.4(DSP):c.5448G>C (p.Leu1816=)
|
rs1270969886
|
|
|
NM_004415.4(DSP):c.5479G>A (p.Ala1827Thr)
|
rs747643627
|
|
|
NM_004415.4(DSP):c.5499G>A (p.Glu1833=)
|
rs775969808
|
|
|
NM_004415.4(DSP):c.5502T>C (p.Asp1834=)
|
rs1759480555
|
|
|
NM_004415.4(DSP):c.5507T>C (p.Leu1836Pro)
|
rs1759480891
|
|
|
NM_004415.4(DSP):c.5512C>T (p.Arg1838Cys)
|
rs756481791
|
|
|
NM_004415.4(DSP):c.5513G>T (p.Arg1838Leu)
|
rs377715841
|
|
|
NM_004415.4(DSP):c.5515G>A (p.Ala1839Thr)
|
rs1759481360
|
|
|
NM_004415.4(DSP):c.5532G>A (p.Glu1844=)
|
rs2113698068
|
|
|
NM_004415.4(DSP):c.5544G>A (p.Arg1848=)
|
rs727503004
|
|
|
NM_004415.4(DSP):c.5553G>C (p.Gln1851His)
|
rs1259972571
|
|
|
NM_004415.4(DSP):c.5563T>C (p.Cys1855Arg)
|
rs1453126950
|
|
|
NM_004415.4(DSP):c.5565T>C (p.Cys1855=)
|
rs2113698182
|
|
|
NM_004415.4(DSP):c.5570A>C (p.Lys1857Thr)
|
rs1178938416
|
|
|
NM_004415.4(DSP):c.5579T>C (p.Ile1860Thr)
|
rs1360244764
|
|
|
NM_004415.4(DSP):c.557A>T (p.His186Leu)
|
rs1033990351
|
|
|
NM_004415.4(DSP):c.5597A>G (p.Gln1866Arg)
|
|
|
|
NM_004415.4(DSP):c.55C>T (p.Arg19Cys)
|
rs777340009
|
|
|
NM_004415.4(DSP):c.560T>G (p.Val187Gly)
|
|
|
|
NM_004415.4(DSP):c.5626G>A (p.Glu1876Lys)
|
rs1252594295
|
|
|
NM_004415.4(DSP):c.5642T>C (p.Ile1881Thr)
|
rs1192963820
|
|
|
NM_004415.4(DSP):c.5647T>G (p.Ser1883Ala)
|
rs1056652234
|
|
|
NM_004415.4(DSP):c.5657A>G (p.Glu1886Gly)
|
rs1759489572
|
|
|
NM_004415.4(DSP):c.5679C>T (p.Asn1893=)
|
rs1367738238
|
|
|
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)
|
rs774763657
|
|
|
NM_004415.4(DSP):c.5683C>G (p.Leu1895Val)
|
rs1159494439
|
|
|
NM_004415.4(DSP):c.5699A>G (p.Glu1900Gly)
|
rs1759492981
|
|
|
NM_004415.4(DSP):c.5711C>T (p.Ala1904Val)
|
rs1473162721
|
|
|
NM_004415.4(DSP):c.5718C>G (p.Ile1906Met)
|
rs2113698577
|
|
|
NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser)
|
rs371873840
|
|
|
NM_004415.4(DSP):c.5738G>C (p.Cys1913Ser)
|
rs755250746
|
|
|
NM_004415.4(DSP):c.5743C>T (p.Arg1915Cys)
|
rs1461028383
|
|
|
NM_004415.4(DSP):c.5757T>G (p.Asp1919Glu)
|
rs727504871
|
|
|
NM_004415.4(DSP):c.5763C>T (p.Thr1921=)
|
rs1759495786
|
|
|
NM_004415.4(DSP):c.5773C>T (p.Gln1925Ter)
|
rs2113698710
|
|
|
NM_004415.4(DSP):c.5792_5793insGAGTTAGATA (p.Glu1931_Arg1932insSerTer)
|
|
|
|
NM_004415.4(DSP):c.5801G>A (p.Arg1934Gln)
|
|
|
|
NM_004415.4(DSP):c.5802A>T (p.Arg1934=)
|
|
|
|
NM_004415.4(DSP):c.5807A>T (p.Gln1936Leu)
|
rs1759498186
|
|
|
NM_004415.4(DSP):c.5816T>C (p.Ile1939Thr)
|
|
|
|
NM_004415.4(DSP):c.5819A>T (p.Asp1940Val)
|
rs1430290356
|
|
|
NM_004415.4(DSP):c.5828G>T (p.Arg1943Ile)
|
|
|
|
NM_004415.4(DSP):c.5847C>A (p.Ser1949=)
|
rs953031251
|
|
|
NM_004415.4(DSP):c.5851C>G (p.Arg1951Gly)
|
rs869025395
|
|
|
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter)
|
rs869025395
|
|
|
NM_004415.4(DSP):c.5852G>A (p.Arg1951Gln)
|
|
|
|
NM_004415.4(DSP):c.5866G>A (p.Glu1956Lys)
|
rs1759501739
|
|
|
NM_004415.4(DSP):c.5894A>G (p.Lys1965Arg)
|
rs1561701637
|
|
|
NM_004415.4(DSP):c.5903T>G (p.Phe1968Cys)
|
rs1391409186
|
|
|
NM_004415.4(DSP):c.590A>T (p.Gln197Leu)
|
rs2113660072
|
|
|
NM_004415.4(DSP):c.5918A>G (p.Lys1973Arg)
|
rs376397314
|
|
|
NM_004415.4(DSP):c.5924T>C (p.Val1975Ala)
|
rs1759505693
|
|
|
NM_004415.4(DSP):c.5933T>C (p.Met1978Thr)
|
rs1322656621
|
|
|
NM_004415.4(DSP):c.5934G>C (p.Met1978Ile)
|
rs1759506508
|
|
|
NM_004415.4(DSP):c.5942A>G (p.Tyr1981Cys)
|
rs1085307622
|
|
|
NM_004415.4(DSP):c.5958C>G (p.Ile1986Met)
|
rs577625038
|
|
|
NM_004415.4(DSP):c.5969C>T (p.Thr1990Ile)
|
|
|
|
NM_004415.4(DSP):c.597+2_597+5dup
|
rs765558005
|
|
|
NM_004415.4(DSP):c.598-7G>T
|
rs1758732370
|
|
|
NM_004415.4(DSP):c.5997G>A (p.Lys1999=)
|
|
|
|
NM_004415.4(DSP):c.6008A>G (p.Glu2003Gly)
|
rs1457667981
|
|
|
NM_004415.4(DSP):c.6011T>C (p.Val2004Ala)
|
rs1759511205
|
|
|
NM_004415.4(DSP):c.6017C>A (p.Ser2006Tyr)
|
rs1759511635
|
|
|
NM_004415.4(DSP):c.6029C>T (p.Pro2010Leu)
|
rs2113699350
|
|
|
NM_004415.4(DSP):c.6038G>C (p.Arg2013Pro)
|
rs557263443
|
|
|
NM_004415.4(DSP):c.6047G>A (p.Gly2016Glu)
|
|
|
|
NM_004415.4(DSP):c.6052A>G (p.Ile2018Val)
|
rs2113699415
|
|
|
NM_004415.4(DSP):c.6053T>C (p.Ile2018Thr)
|
rs1561701890
|
|
|
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr)
|
rs771974957
|
|
|
NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser)
|
rs771974957
|
|
|
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser)
|
rs1759514545
|
|
|
NM_004415.4(DSP):c.6085T>C (p.Tyr2029His)
|
rs765794044
|
|
|
NM_004415.4(DSP):c.6096A>G (p.Val2032=)
|
|
|
|
NM_004415.4(DSP):c.6099G>A (p.Glu2033=)
|
|
|
|
NM_004415.4(DSP):c.60C>T (p.Ala20=)
|
|
|
|
NM_004415.4(DSP):c.6104A>C (p.Lys2035Thr)
|
|
|
|
NM_004415.4(DSP):c.6134C>G (p.Thr2045Arg)
|
rs1759516546
|
|
|
NM_004415.4(DSP):c.613G>A (p.Val205Met)
|
|
|
|
NM_004415.4(DSP):c.6154_6162del (p.Gln2052_Ala2054del)
|
rs1759517350
|
|
|
NM_004415.4(DSP):c.6160G>A (p.Ala2054Thr)
|
rs1759517531
|
|
|
NM_004415.4(DSP):c.6161C>T (p.Ala2054Val)
|
rs1759517621
|
|
|
NM_004415.4(DSP):c.6162T>C (p.Ala2054=)
|
rs1561702033
|
|
|
NM_004415.4(DSP):c.6166G>C (p.Gly2056Arg)
|
rs780274878
|
|
|
NM_004415.4(DSP):c.616G>A (p.Ala206Thr)
|
rs794728109
|
|
|
NM_004415.4(DSP):c.6176T>A (p.Ile2059Asn)
|
rs1263298339
|
|
|
NM_004415.4(DSP):c.6176T>C (p.Ile2059Thr)
|
|
|
|
NM_004415.4(DSP):c.6181C>G (p.Pro2061Ala)
|
rs1561702055
|
|
|
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)
|
rs374090050
|
|
|
NM_004415.4(DSP):c.6188G>T (p.Arg2063Leu)
|
rs142927608
|
|
|
NM_004415.4(DSP):c.6200T>G (p.Leu2067Arg)
|
rs2113699736
|
|
|
NM_004415.4(DSP):c.6214G>A (p.Ala2072Thr)
|
rs1759520180
|
|
|
NM_004415.4(DSP):c.6223C>G (p.Arg2075Gly)
|
rs751050235
|
|
|
NM_004415.4(DSP):c.6225G>A (p.Arg2075=)
|
|
|
|
NM_004415.4(DSP):c.6247C>G (p.Arg2083Gly)
|
rs370093129
|
|
|
NM_004415.4(DSP):c.6267A>T (p.Ala2089=)
|
|
|
|
NM_004415.4(DSP):c.6275C>T (p.Ala2092Val)
|
rs876657796
|
|
|
NM_004415.4(DSP):c.6290A>C (p.Asp2097Ala)
|
|
|
|
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile)
|
rs587782942
|
|
|
NM_004415.4(DSP):c.6297A>G (p.Pro2099=)
|
rs1759525136
|
|
|
NM_004415.4(DSP):c.630C>A (p.Asp210Glu)
|
|
|
|
NM_004415.4(DSP):c.630C>T (p.Asp210=)
|
rs2113665093
|
|
|
NM_004415.4(DSP):c.6340A>G (p.Asn2114Asp)
|
rs561452524
|
|
|
NM_004415.4(DSP):c.6343T>G (p.Leu2115Val)
|
rs1484456213
|
|
|
NM_004415.4(DSP):c.6347T>C (p.Ile2116Thr)
|
rs730880087
|
|
|
NM_004415.4(DSP):c.6352A>G (p.Arg2118Gly)
|
rs1311515571
|
|
|
NM_004415.4(DSP):c.6361G>A (p.Gly2121Arg)
|
rs368227724
|
|
|
NM_004415.4(DSP):c.6370_6373del (p.Leu2124fs)
|
rs1759529582
|
|
|
NM_004415.4(DSP):c.6372G>T (p.Leu2124=)
|
rs2113700140
|
|
|
NM_004415.4(DSP):c.6373C>T (p.Leu2125=)
|
rs1246415961
|
|
|
NM_004415.4(DSP):c.6380C>T (p.Ala2127Val)
|
|
|
|
NM_004415.4(DSP):c.6386T>G (p.Ile2129Ser)
|
rs1401697610
|
|
|
NM_004415.4(DSP):c.6405A>G (p.Val2135=)
|
rs2113700286
|
|
|
NM_004415.4(DSP):c.6408C>T (p.Asp2136=)
|
rs771641035
|
|
|
NM_004415.4(DSP):c.6432A>T (p.Pro2144=)
|
rs773730187
|
|
|
NM_004415.4(DSP):c.6441C>T (p.Val2147=)
|
rs762513279
|
|
|
NM_004415.4(DSP):c.6444C>T (p.Ala2148=)
|
|
|
|
NM_004415.4(DSP):c.6448G>A (p.Ala2150Thr)
|
rs1759533337
|
|
|
NM_004415.4(DSP):c.6449C>G (p.Ala2150Gly)
|
rs1487798502
|
|
|
NM_004415.4(DSP):c.6451dup (p.Arg2151fs)
|
rs1759533568
|
|
|
NM_004415.4(DSP):c.6452G>T (p.Arg2151Leu)
|
rs367759510
|
|
|
NM_004415.4(DSP):c.6453G>A (p.Arg2151=)
|
|
|
|
NM_004415.4(DSP):c.6465T>C (p.Asp2155=)
|
|
|
|
NM_004415.4(DSP):c.6466A>C (p.Arg2156=)
|
rs371355711
|
|
|
NM_004415.4(DSP):c.6472T>C (p.Leu2158=)
|
rs1455927842
|
|
|
NM_004415.4(DSP):c.6474G>C (p.Leu2158Phe)
|
rs1759534911
|
|
|
NM_004415.4(DSP):c.647A>C (p.Gln216Pro)
|
rs1758736357
|
|
|
NM_004415.4(DSP):c.6482C>T (p.Ser2161Phe)
|
|
|
|
NM_004415.4(DSP):c.6486G>C (p.Leu2162=)
|
rs1759535660
|
|
|
NM_004415.4(DSP):c.6494C>T (p.Pro2165Leu)
|
rs1759535966
|
|
|
NM_004415.4(DSP):c.6495C>A (p.Pro2165=)
|
rs778679255
|
|
|
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter)
|
rs141026028
|
|
|
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)
|
rs1561702640
|
|
|
NM_004415.4(DSP):c.6520G>A (p.Asp2174Asn)
|
|
|
|
NM_004415.4(DSP):c.6528C>A (p.Val2176=)
|
rs1759538167
|
|
|
NM_004415.4(DSP):c.652A>G (p.Ile218Val)
|
rs987363401
|
|
|
NM_004415.4(DSP):c.6537_6538del (p.Lys2180fs)
|
|
|
|
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His)
|
rs763549172
|
|
|
NM_004415.4(DSP):c.6564A>C (p.Glu2188Asp)
|
|
|
|
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys)
|
rs527888978
|
|
|
NM_004415.4(DSP):c.6576C>T (p.Ile2192=)
|
rs1032400756
|
|
|
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala)
|
rs2113700741
|
|
|
NM_004415.4(DSP):c.6622A>T (p.Met2208Leu)
|
|
|
|
NM_004415.4(DSP):c.6626C>G (p.Ser2209Cys)
|
rs1759543444
|
|
|
NM_004415.4(DSP):c.6653C>T (p.Thr2218Ile)
|
|
|
|
NM_004415.4(DSP):c.6654C>G (p.Thr2218=)
|
rs727503005
|
|
|
NM_004415.4(DSP):c.665G>C (p.Arg222Pro)
|
rs377749481
|
|
|
NM_004415.4(DSP):c.666G>T (p.Arg222=)
|
rs2113665201
|
|
|
NM_004415.4(DSP):c.667G>T (p.Gly223Cys)
|
rs200806163
|
|
|
NM_004415.4(DSP):c.6723T>A (p.Ile2241=)
|
rs1219037519
|
|
|
NM_004415.4(DSP):c.6740G>A (p.Gly2247Asp)
|
|
|
|
NM_004415.4(DSP):c.6744G>C (p.Glu2248Asp)
|
rs1581822997
|
|
|
NM_004415.4(DSP):c.67G>A (p.Gly23Ser)
|
rs1757993019
|
|
|
NM_004415.4(DSP):c.6804A>G (p.Thr2268=)
|
rs1561703011
|
|
|
NM_004415.4(DSP):c.681C>T (p.Ser227=)
|
rs1758738979
|
|
|
NM_004415.4(DSP):c.6829G>A (p.Ala2277Thr)
|
rs1759548533
|
|
|
NM_004415.4(DSP):c.682A>G (p.Ile228Val)
|
rs934038992
|
|
|
NM_004415.4(DSP):c.6851G>A (p.Arg2284Gln)
|
|
|
|
NM_004415.4(DSP):c.6852A>T (p.Arg2284=)
|
rs141148057
|
|
|
NM_004415.4(DSP):c.6853C>A (p.Pro2285Thr)
|
rs377085222
|
|
|
NM_004415.4(DSP):c.685G>A (p.Gly229Ser)
|
rs376185352
|
|
|
NM_004415.4(DSP):c.685G>T (p.Gly229Cys)
|
|
|
|
NM_004415.4(DSP):c.6865C>T (p.Leu2289=)
|
|
|
|
NM_004415.4(DSP):c.6886G>A (p.Ala2296Thr)
|
|
|
|
NM_004415.4(DSP):c.6892A>G (p.Thr2298Ala)
|
rs1759550667
|
|
|
NM_004415.4(DSP):c.6901A>G (p.Ile2301Val)
|
|
|
|
NM_004415.4(DSP):c.6918C>T (p.Ser2306=)
|
rs1275471884
|
|
|
NM_004415.4(DSP):c.6919A>G (p.Asn2307Asp)
|
rs1055504283
|
|
|
NM_004415.4(DSP):c.6954A>G (p.Arg2318=)
|
rs2113701373
|
|
|
NM_004415.4(DSP):c.6967A>C (p.Ile2323Leu)
|
rs1759554116
|
|
|
NM_004415.4(DSP):c.6988C>G (p.Leu2330Val)
|
rs1759554701
|
|
|
NM_004415.4(DSP):c.6992C>G (p.Ser2331Cys)
|
|
|
|
NM_004415.4(DSP):c.6997G>A (p.Glu2333Lys)
|
rs1490807572
|
|
|
NM_004415.4(DSP):c.6C>T (p.Ser2=)
|
rs776052488
|
|
|
NM_004415.4(DSP):c.7004C>T (p.Ala2335Val)
|
|
|
|
NM_004415.4(DSP):c.7016A>G (p.Tyr2339Cys)
|
rs1759555427
|
|
|
NM_004415.4(DSP):c.7017T>C (p.Tyr2339=)
|
rs753946358
|
|
|
NM_004415.4(DSP):c.7020T>C (p.Asn2340=)
|
rs1471479464
|
|
|
NM_004415.4(DSP):c.7031C>G (p.Thr2344Arg)
|
|
|
|
NM_004415.4(DSP):c.7031C>T (p.Thr2344Ile)
|
rs746413668
|
|
|
NM_004415.4(DSP):c.7041C>T (p.Ile2347=)
|
rs748356667
|
|
|
NM_004415.4(DSP):c.7077C>A (p.Ile2359=)
|
|
|
|
NM_004415.4(DSP):c.7154G>A (p.Arg2385His)
|
rs1396768987
|
|
|
NM_004415.4(DSP):c.716A>C (p.Lys239Thr)
|
rs940238260
|
|
|
NM_004415.4(DSP):c.7179G>T (p.Lys2393Asn)
|
rs1759561425
|
|
|
NM_004415.4(DSP):c.7213C>T (p.Leu2405Phe)
|
rs774401264
|
|
|
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter)
|
rs2113701867
|
|
|
NM_004415.4(DSP):c.7229A>G (p.Asp2410Gly)
|
rs1759563429
|
|
|
NM_004415.4(DSP):c.723C>T (p.Asp241=)
|
rs1758741409
|
|
|
NM_004415.4(DSP):c.7264del (p.Glu2422fs)
|
rs1759564374
|
|
|
NM_004415.4(DSP):c.7269T>C (p.Asn2423=)
|
rs1759564582
|
|
|
NM_004415.4(DSP):c.7270C>T (p.Leu2424Phe)
|
|
|
|
NM_004415.4(DSP):c.7284A>G (p.Gln2428=)
|
rs1759565168
|
|
|
NM_004415.4(DSP):c.729C>G (p.Arg243=)
|
rs141028505
|
|
|
NM_004415.4(DSP):c.7303A>G (p.Lys2435Glu)
|
|
|
|
NM_004415.4(DSP):c.7305G>C (p.Lys2435Asn)
|
rs1554108998
|
|
|
NM_004415.4(DSP):c.7312G>A (p.Glu2438Lys)
|
rs1759566407
|
|
|
NM_004415.4(DSP):c.7312G>C (p.Glu2438Gln)
|
rs1759566407
|
|
|
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe)
|
rs864309585
|
|
|
NM_004415.4(DSP):c.732G>C (p.Glu244Asp)
|
rs2113666864
|
|
|
NM_004415.4(DSP):c.7342G>C (p.Glu2448Gln)
|
rs2113702127
|
|
|
NM_004415.4(DSP):c.7346A>C (p.Lys2449Thr)
|
rs1581823888
|
|
|
NM_004415.4(DSP):c.7350G>C (p.Lys2450Asn)
|
rs1561703628
|
|
|
NM_004415.4(DSP):c.7355A>C (p.Gln2452Pro)
|
rs1759567864
|
|
|
NM_004415.4(DSP):c.7360C>G (p.Gln2454Glu)
|
rs373890201
|
|
|
NM_004415.4(DSP):c.7363A>C (p.Thr2455Pro)
|
rs2113702180
|
|
|
NM_004415.4(DSP):c.7365A>G (p.Thr2455=)
|
|
|
|
NM_004415.4(DSP):c.7370A>C (p.Gln2457Pro)
|
rs1206306343
|
|
|
NM_004415.4(DSP):c.7433C>A (p.Ser2478Tyr)
|
rs1759570987
|
|
|
NM_004415.4(DSP):c.7438C>T (p.Gln2480Ter)
|
|
|
|
NM_004415.4(DSP):c.743T>C (p.Ile248Thr)
|
rs1455602530
|
|
|
NM_004415.4(DSP):c.7446C>T (p.Ala2482=)
|
rs2113702327
|
|
|
NM_004415.4(DSP):c.7458C>T (p.Gly2486=)
|
rs1049252239
|
|
|
NM_004415.4(DSP):c.7489T>A (p.Cys2497Ser)
|
|
|
|
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del)
|
rs1473818298
|
|
|
NM_004415.4(DSP):c.7521C>T (p.Thr2507=)
|
|
|
|
NM_004415.4(DSP):c.7535A>G (p.Asp2512Gly)
|
rs1759575116
|
|
|
NM_004415.4(DSP):c.7539C>T (p.Gly2513=)
|
rs1561703823
|
|
|
NM_004415.4(DSP):c.7545C>G (p.Thr2515=)
|
|
|
|
NM_004415.4(DSP):c.7546A>G (p.Arg2516Gly)
|
rs1304859870
|
|
|
NM_004415.4(DSP):c.7547G>C (p.Arg2516Thr)
|
|
|
|
NM_004415.4(DSP):c.7554C>A (p.Val2518=)
|
rs573057380
|
|
|
NM_004415.4(DSP):c.7555C>A (p.Leu2519Met)
|
rs779145021
|
|
|
NM_004415.4(DSP):c.7557G>A (p.Leu2519=)
|
rs397516957
|
|
|
NM_004415.4(DSP):c.7560A>C (p.Val2520=)
|
rs1759579885
|
|
|
NM_004415.4(DSP):c.7560A>G (p.Val2520=)
|
rs1759579885
|
|
|
NM_004415.4(DSP):c.7578T>C (p.Ser2526=)
|
rs527858295
|
|
|
NM_004415.4(DSP):c.7581G>A (p.Gln2527=)
|
rs879254350
|
|
|
NM_004415.4(DSP):c.7584T>A (p.Tyr2528Ter)
|
rs1759581554
|
|
|
NM_004415.4(DSP):c.7589T>C (p.Ile2530Thr)
|
rs768564872
|
|
|
NM_004415.4(DSP):c.7605C>T (p.Asp2535=)
|
rs1302470716
|
|
|
NM_004415.4(DSP):c.7628T>A (p.Phe2543Tyr)
|
|
|
|
NM_004415.4(DSP):c.7632T>G (p.Phe2544Leu)
|
rs1759584747
|
|
|
NM_004415.4(DSP):c.7643G>A (p.Arg2548Gln)
|
rs377565339
|
|
|
NM_004415.4(DSP):c.7643G>C (p.Arg2548Pro)
|
|
|
|
NM_004415.4(DSP):c.7646C>T (p.Ser2549Phe)
|
|
|
|
NM_004415.4(DSP):c.7647C>T (p.Ser2549=)
|
rs765385403
|
|
|
NM_004415.4(DSP):c.7667A>T (p.Gln2556Leu)
|
rs760434412
|
|
|
NM_004415.4(DSP):c.7685_7687del (p.Ser2562del)
|
rs762495630
|
|
|
NM_004415.4(DSP):c.7698T>C (p.Gly2566=)
|
rs1759588620
|
|
|
NM_004415.4(DSP):c.7706C>T (p.Thr2569Ile)
|
rs770464104
|
|
|
NM_004415.4(DSP):c.7716C>T (p.Ser2572=)
|
rs773824736
|
|
|
NM_004415.4(DSP):c.7736ATG[1] (p.Asp2580del)
|
rs1759590820
|
|
|
NM_004415.4(DSP):c.7761T>C (p.His2587=)
|
|
|
|
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs)
|
rs763560697
|
|
|
NM_004415.4(DSP):c.778-11C>T
|
rs766022259
|
|
|
NM_004415.4(DSP):c.778-6G>T
|
rs1561685227
|
|
|
NM_004415.4(DSP):c.7792A>T (p.Ser2598Cys)
|
rs1320923132
|
|
|
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)
|
rs199597935
|
|
|
NM_004415.4(DSP):c.7823C>T (p.Ser2608Phe)
|
rs777066674
|
|
|
NM_004415.4(DSP):c.7833_7841del (p.Asp2611_Leu2613del)
|
rs2113703405
|
|
|
NM_004415.4(DSP):c.7837C>G (p.Leu2613Val)
|
rs1286275087
|
|
|
NM_004415.4(DSP):c.7838T>C (p.Leu2613Pro)
|
rs1759599736
|
|
|
NM_004415.4(DSP):c.7854C>G (p.Pro2618=)
|
rs759590338
|
|
|
NM_004415.4(DSP):c.7857T>C (p.Ile2619=)
|
|
|
|
NM_004415.4(DSP):c.7871A>G (p.Asp2624Gly)
|
rs1759602460
|
|
|
NM_004415.4(DSP):c.7872C>T (p.Asp2624=)
|
rs937704870
|
|
|
NM_004415.4(DSP):c.7891A>G (p.Ile2631Val)
|
rs1759604036
|
|
|
NM_004415.4(DSP):c.7893C>T (p.Ile2631=)
|
rs778552693
|
|
|
NM_004415.4(DSP):c.78G>C (p.Leu26=)
|
rs71559180
|
|
|
NM_004415.4(DSP):c.78G>T (p.Leu26=)
|
rs71559180
|
|
|
NM_004415.4(DSP):c.7900A>G (p.Thr2634Ala)
|
rs373200747
|
|
|
NM_004415.4(DSP):c.7915C>A (p.Arg2639=)
|
rs771553674
|
|
|
NM_004415.4(DSP):c.7918_7919dup (p.Ile2641fs)
|
rs1759606062
|
|
|
NM_004415.4(DSP):c.7931G>C (p.Ser2644Thr)
|
rs1759607288
|
|
|
NM_004415.4(DSP):c.7932C>T (p.Ser2644=)
|
rs1759607427
|
|
|
NM_004415.4(DSP):c.7935C>T (p.Ile2645=)
|
|
|
|
NM_004415.4(DSP):c.7940G>T (p.Gly2647Val)
|
rs771407520
|
|
|
NM_004415.4(DSP):c.7964C>A (p.Ala2655Asp)
|
rs193922671
|
|
|
NM_004415.4(DSP):c.796A>C (p.Met266Leu)
|
rs1758827543
|
|
|
NM_004415.4(DSP):c.7983C>A (p.Ile2661=)
|
rs1561704694
|
|
|
NM_004415.4(DSP):c.7989A>G (p.Pro2663=)
|
|
|
|
NM_004415.4(DSP):c.7992C>T (p.Thr2664=)
|
rs1581825240
|
|
|
NM_004415.4(DSP):c.8001G>C (p.Gln2667His)
|
rs758047603
|
|
|
NM_004415.4(DSP):c.8004G>A (p.Lys2668=)
|
rs1581825294
|
|
|
NM_004415.4(DSP):c.8005C>T (p.Leu2669=)
|
|
|
|
NM_004415.4(DSP):c.8018A>T (p.Asp2673Val)
|
|
|
|
NM_004415.4(DSP):c.8031G>T (p.Gln2677His)
|
rs1759614272
|
|
|
NM_004415.4(DSP):c.8071G>C (p.Ala2691Pro)
|
rs1006955897
|
|
|
NM_004415.4(DSP):c.8075del (p.Gln2692fs)
|
|
|
|
NM_004415.4(DSP):c.8082_8085del (p.Ala2694_Phe2695insTer)
|
|
|
|
NM_004415.4(DSP):c.8085C>A (p.Phe2695Leu)
|
rs1759617585
|
|
|
NM_004415.4(DSP):c.8095G>A (p.Glu2699Lys)
|
|
|
|
NM_004415.4(DSP):c.8099G>A (p.Gly2700Asp)
|
rs1019638361
|
|
|
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)
|
rs397516962
|
|
|
NM_004415.4(DSP):c.8115G>A (p.Lys2705=)
|
rs1759619330
|
|
|
NM_004415.4(DSP):c.8128G>T (p.Ala2710Ser)
|
rs1561705003
|
|
|
NM_004415.4(DSP):c.8130A>G (p.Ala2710=)
|
rs1440748149
|
|
|
NM_004415.4(DSP):c.8139G>C (p.Val2713=)
|
rs555992606
|
|
|
NM_004415.4(DSP):c.8143G>T (p.Glu2715Ter)
|
rs1759621325
|
|
|
NM_004415.4(DSP):c.8149T>C (p.Trp2717Arg)
|
rs1554109176
|
|
|
NM_004415.4(DSP):c.8151G>C (p.Trp2717Cys)
|
|
|
|
NM_004415.4(DSP):c.8156C>A (p.Pro2719Gln)
|
rs1759622362
|
|
|
NM_004415.4(DSP):c.8166T>G (p.Ala2722=)
|
rs1759622860
|
|
|
NM_004415.4(DSP):c.8187C>T (p.Phe2729=)
|
rs369619485
|
|
|
NM_004415.4(DSP):c.8198C>T (p.Thr2733Met)
|
rs1561705229
|
|
|
NM_004415.4(DSP):c.81C>A (p.Arg27=)
|
rs773559423
|
|
|
NM_004415.4(DSP):c.81C>G (p.Arg27=)
|
|
|
|
NM_004415.4(DSP):c.8213A>G (p.Asp2738Gly)
|
rs2113704486
|
|
|
NM_004415.4(DSP):c.8215C>T (p.Pro2739Ser)
|
|
|
|
NM_004415.4(DSP):c.8223G>A (p.Val2741=)
|
rs1318791546
|
|
|
NM_004415.4(DSP):c.8227G>A (p.Gly2743Arg)
|
rs1759627772
|
|
|
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly)
|
rs1198357388
|
|
|
NM_004415.4(DSP):c.8240C>T (p.Thr2747Ile)
|
rs1581826021
|
|
|
NM_004415.4(DSP):c.8249C>G (p.Ala2750Gly)
|
|
|
|
NM_004415.4(DSP):c.8262G>A (p.Gly2754=)
|
rs187226788
|
|
|
NM_004415.4(DSP):c.8276G>A (p.Arg2759His)
|
rs936541705
|
|
|
NM_004415.4(DSP):c.8280C>T (p.Ala2760=)
|
rs1203424345
|
|
|
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile)
|
rs34884895
|
|
|
NM_004415.4(DSP):c.8319C>T (p.Ile2773=)
|
|
|
|
NM_004415.4(DSP):c.8320C>T (p.Leu2774=)
|
rs397516964
|
|
|
NM_004415.4(DSP):c.8342T>C (p.Leu2781Ser)
|
|
|
|
NM_004415.4(DSP):c.8343A>T (p.Leu2781Phe)
|
|
|
|
NM_004415.4(DSP):c.8350T>C (p.Ser2784Pro)
|
rs1240301188
|
|
|
NM_004415.4(DSP):c.8358G>A (p.Lys2786=)
|
rs1759636996
|
|
|
NM_004415.4(DSP):c.8360A>T (p.Asp2787Val)
|
rs1759637183
|
|
|
NM_004415.4(DSP):c.8365A>G (p.Ile2789Val)
|
rs397516965
|
|
|
NM_004415.4(DSP):c.836C>T (p.Thr279Met)
|
rs1758829264
|
|
|
NM_004415.4(DSP):c.8371C>T (p.Arg2791Cys)
|
rs867430601
|
|
|
NM_004415.4(DSP):c.8379G>A (p.Met2793Ile)
|
|
|
|
NM_004415.4(DSP):c.8386G>A (p.Asp2796Asn)
|
|
|
|
NM_004415.4(DSP):c.8387A>T (p.Asp2796Val)
|
rs888716643
|
|
|
NM_004415.4(DSP):c.8388T>C (p.Asp2796=)
|
rs1478242707
|
|
|
NM_004415.4(DSP):c.8392A>T (p.Thr2798Ser)
|
rs771976131
|
|
|
NM_004415.4(DSP):c.839C>G (p.Ser280Cys)
|
rs1758829462
|
|
|
NM_004415.4(DSP):c.8416G>A (p.Ala2806Thr)
|
rs1005621727
|
|
|
NM_004415.4(DSP):c.8418C>A (p.Ala2806=)
|
rs1581826536
|
|
|
NM_004415.4(DSP):c.8422G>A (p.Val2808Met)
|
rs755395389
|
|
|
NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu)
|
|
|
|
NM_004415.4(DSP):c.8429C>T (p.Ser2810Phe)
|
rs1759640944
|
|
|
NM_004415.4(DSP):c.8430C>A (p.Ser2810=)
|
rs1759641049
|
|
|
NM_004415.4(DSP):c.8430C>T (p.Ser2810=)
|
rs1759641049
|
|
|
NM_004415.4(DSP):c.843G>A (p.Arg281=)
|
rs1427960878
|
|
|
NM_004415.4(DSP):c.8441C>T (p.Pro2814Leu)
|
rs756310918
|
|
|
NM_004415.4(DSP):c.8442C>T (p.Pro2814=)
|
rs1581826610
|
|
|
NM_004415.4(DSP):c.8445C>T (p.Ser2815=)
|
rs1228176948
|
|
|
NM_004415.4(DSP):c.8453A>T (p.Asn2818Ile)
|
|
|
|
NM_004415.4(DSP):c.8455A>G (p.Met2819Val)
|
rs138329459
|
|
|
NM_004415.4(DSP):c.8464G>C (p.Ala2822Pro)
|
|
|
|
NM_004415.4(DSP):c.8469G>A (p.Pro2823=)
|
rs1581826698
|
|
|
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4])
|
rs397516967
|
|
|
NM_004415.4(DSP):c.8472_8495del (p.2827SGSR[3])
|
rs1267022420
|
|
|
NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4])
|
rs397516968
|
|
|
NM_004415.4(DSP):c.8482G>T (p.Gly2828Cys)
|
|
|
|
NM_004415.4(DSP):c.8488C>A (p.Arg2830Ser)
|
rs1354218745
|
|
|
NM_004415.4(DSP):c.8493G>A (p.Ser2831=)
|
rs397516969
|
|
|
NM_004415.4(DSP):c.8493_8504dup (p.2827_2830SGSR[6])
|
rs748194022
|
|
|
NM_004415.4(DSP):c.8495G>C (p.Gly2832Ala)
|
rs397516970
|
|
|
NM_004415.4(DSP):c.8496A>C (p.Gly2832=)
|
rs760011967
|
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])
|
rs397516971
|
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[3] (p.2827SGSR[6])
|
rs397516971
|
|
|
NM_004415.4(DSP):c.8498_8499insCCGCTCCGGATC (p.Arg2846_Arg2847insSerGlySerArg)
|
|
|
|
NM_004415.4(DSP):c.8499T>C (p.Ser2833=)
|
rs1468666445
|
|
|
NM_004415.4(DSP):c.8507G>C (p.Gly2836Ala)
|
|
|
|
NM_004415.4(DSP):c.8508_8517delinsGTCCCGCAGT (p.Gly2836_Ser2839=)
|
rs1561706189
|
|
|
NM_004415.4(DSP):c.8509T>A (p.Ser2837Thr)
|
rs1759649093
|
|
|
NM_004415.4(DSP):c.850A>G (p.Met284Val)
|
rs747040221
|
|
|
NM_004415.4(DSP):c.8513G>A (p.Arg2838His)
|
rs930055191
|
|
|
NM_004415.4(DSP):c.8515_8517delinsAGT (p.Ser2839=)
|
rs1554109285
|
|
|
NM_004415.4(DSP):c.8516C>G (p.Ser2839Cys)
|
rs750438076
|
|
|
NM_004415.4(DSP):c.8519G>A (p.Gly2840Glu)
|
rs1312581264
|
|
|
NM_004415.4(DSP):c.8525G>A (p.Arg2842His)
|
|
|
|
NM_004415.4(DSP):c.8525G>T (p.Arg2842Leu)
|
|
|
|
NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4])
|
rs794728151
|
|
|
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val)
|
rs374137476
|
|
|
NM_004415.4(DSP):c.8537G>A (p.Arg2846Gln)
|
rs780766289
|
|
|
NM_004415.4(DSP):c.8556C>T (p.Ala2852=)
|
rs1163538965
|
|
|
NM_004415.4(DSP):c.8558C>T (p.Thr2853Ile)
|
|
|
|
NM_004415.4(DSP):c.8559A>G (p.Thr2853=)
|
rs1759653585
|
|
|
NM_004415.4(DSP):c.8611C>T (p.His2871Tyr)
|
|
|
|
NM_004415.4(DSP):c.861T>C (p.Asn287=)
|
rs121912993
|
|
|
NM_004415.4(DSP):c.888C>G (p.Tyr296Ter)
|
rs149701627
|
|
|
NM_004415.4(DSP):c.891C>T (p.Asp297=)
|
rs2113669443
|
|
|
NM_004415.4(DSP):c.89T>C (p.Val30Ala)
|
rs1757994526
|
|
|
NM_004415.4(DSP):c.913A>G (p.Ile305Val)
|
rs17604693
|
|
|
NM_004415.4(DSP):c.940-9C>G
|
rs1016646349
|
|
|
NM_004415.4(DSP):c.941T>C (p.Ile314Thr)
|
rs2113670908
|
|
|
NM_004415.4(DSP):c.96C>T (p.Ser32=)
|
rs1440994214
|
|
|
NM_004415.4(DSP):c.97G>A (p.Gly33Ser)
|
rs1581777550
|
|
|
NM_004415.4(DSP):c.981T>C (p.Asn327=)
|
rs1232724040
|
|
|
NM_004415.4(DSP):c.984G>C (p.Lys328Asn)
|
|
|
|
NM_004415.4(DSP):c.985C>T (p.Leu329=)
|
rs546320453
|
|
|
NM_004415.4(DSP):c.992A>G (p.Gln331Arg)
|
rs746517026
|
|
|
NM_004415.4(DSP):c.99C>T (p.Gly33=)
|
rs755898551
|
|
|
NM_004612.4(TGFBR1):c.1031A>G (p.Asn344Ser)
|
rs1827740020
|
|
|
NM_004612.4(TGFBR1):c.1033G>A (p.Gly345Arg)
|
rs1554701900
|
|
|
NM_004612.4(TGFBR1):c.1065A>G (p.Ala355=)
|
rs758280185
|
|
|
NM_004612.4(TGFBR1):c.1107A>G (p.Pro369=)
|
rs1827742534
|
|
|
NM_004612.4(TGFBR1):c.1131-8T>G
|
rs1827799094
|
|
|
NM_004612.4(TGFBR1):c.1133A>G (p.Tyr378Cys)
|
rs2118826506
|
|
|
NM_004612.4(TGFBR1):c.1134C>T (p.Tyr378=)
|
rs1827799271
|
|
|
NM_004612.4(TGFBR1):c.1140C>T (p.Ala380=)
|
rs1407167849
|
|
|
NM_004612.4(TGFBR1):c.1157A>G (p.Asp386Gly)
|
rs1827800557
|
|
|
NM_004612.4(TGFBR1):c.1196C>G (p.Ala399Gly)
|
rs1827802075
|
|
|
NM_004612.4(TGFBR1):c.1216T>A (p.Leu406Ile)
|
rs200062984
|
|
|
NM_004612.4(TGFBR1):c.1237C>T (p.Arg413Ter)
|
rs200595614
|
|
|
NM_004612.4(TGFBR1):c.1256-2A>G
|
rs1827839566
|
|
|
NM_004612.4(TGFBR1):c.1278G>T (p.Leu426=)
|
rs368928967
|
|
|
NM_004612.4(TGFBR1):c.1284T>C (p.Tyr428=)
|
rs201163170
|
|
|
NM_004612.4(TGFBR1):c.1289A>T (p.Asp430Val)
|
rs2118839539
|
|
|
NM_004612.4(TGFBR1):c.1310C>T (p.Ser437Leu)
|
rs1827842067
|
|
|
NM_004612.4(TGFBR1):c.1317A>G (p.Glu439=)
|
|
|
|
NM_004612.4(TGFBR1):c.1325G>A (p.Arg442Lys)
|
rs1827843082
|
|
|
NM_004612.4(TGFBR1):c.1360A>G (p.Ile454Val)
|
rs1827845172
|
|
|
NM_004612.4(TGFBR1):c.1387-14A>T
|
rs201772204
|
|
|
NM_004612.4(TGFBR1):c.1389C>T (p.Ala463=)
|
rs1266698972
|
|
|
NM_004612.4(TGFBR1):c.1424G>C (p.Trp475Ser)
|
|
|
|
NM_004612.4(TGFBR1):c.1428T>C (p.Tyr476=)
|
rs1827899944
|
|
|
NM_004612.4(TGFBR1):c.1430C>T (p.Ala477Val)
|
rs1827900086
|
|
|
NM_004612.4(TGFBR1):c.1456T>C (p.Leu486=)
|
rs111818778
|
|
|
NM_004612.4(TGFBR1):c.1459C>A (p.Arg487=)
|
|
|
|
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)
|
rs111426349
|
|
|
NM_004612.4(TGFBR1):c.1479G>C (p.Ser493=)
|
|
|
|
NM_004612.4(TGFBR1):c.1512A>G (p.Ter504=)
|
rs1827906070
|
|
|
NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg)
|
rs587776865
|
|
|
NM_004612.4(TGFBR1):c.157C>T (p.Leu53Phe)
|
rs1827123254
|
|
|
NM_004612.4(TGFBR1):c.159C>T (p.Leu53=)
|
|
|
|
NM_004612.4(TGFBR1):c.180G>C (p.Glu60Asp)
|
rs1171355842
|
|
|
NM_004612.4(TGFBR1):c.191A>G (p.Lys64Arg)
|
rs886042300
|
|
|
NM_004612.4(TGFBR1):c.193G>A (p.Val65Ile)
|
rs1827124531
|
|
|
NM_004612.4(TGFBR1):c.225T>A (p.Ile75=)
|
rs200543076
|
|
|
NM_004612.4(TGFBR1):c.239G>A (p.Arg80Gln)
|
rs1368326650
|
|
|
NM_004612.4(TGFBR1):c.256T>C (p.Cys86Arg)
|
rs2118570240
|
|
|
NM_004612.4(TGFBR1):c.276T>C (p.Thr92=)
|
rs1383627671
|
|
|
NM_004612.4(TGFBR1):c.283G>A (p.Val95Met)
|
rs1827129569
|
|
|
NM_004612.4(TGFBR1):c.294A>G (p.Thr98=)
|
rs747332492
|
|
|
NM_004612.4(TGFBR1):c.297T>C (p.Tyr99=)
|
rs550395617
|
|
|
NM_004612.4(TGFBR1):c.337A>G (p.Thr113Ala)
|
rs762573778
|
|
|
NM_004612.4(TGFBR1):c.341C>G (p.Thr114Ser)
|
rs1827133059
|
|
|
NM_004612.4(TGFBR1):c.341C>T (p.Thr114Ile)
|
rs1827133059
|
|
|
NM_004612.4(TGFBR1):c.344-13G>A
|
rs1300742771
|
|
|
NM_004612.4(TGFBR1):c.346A>G (p.Lys116Glu)
|
rs1827266142
|
|
|
NM_004612.4(TGFBR1):c.359G>T (p.Gly120Val)
|
|
|
|
NM_004612.4(TGFBR1):c.398C>T (p.Pro133Leu)
|
rs1827269407
|
|
|
NM_004612.4(TGFBR1):c.403T>G (p.Cys135Gly)
|
rs1827269961
|
|
|
NM_004612.4(TGFBR1):c.408C>T (p.Phe136=)
|
rs773845018
|
|
|
NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile)
|
rs745576967
|
|
|
NM_004612.4(TGFBR1):c.424A>T (p.Met142Leu)
|
rs1029455360
|
|
|
NM_004612.4(TGFBR1):c.449A>G (p.Asn150Ser)
|
rs945370154
|
|
|
NM_004612.4(TGFBR1):c.453C>T (p.Arg151=)
|
|
|
|
NM_004612.4(TGFBR1):c.470G>A (p.Arg157Gln)
|
rs147146713
|
|
|
NM_004612.4(TGFBR1):c.487del (p.Asp163fs)
|
rs1827276619
|
|
|
NM_004612.4(TGFBR1):c.488A>G (p.Asp163Gly)
|
rs2118629610
|
|
|
NM_004612.4(TGFBR1):c.503G>T (p.Arg168Leu)
|
rs777965779
|
|
|
NM_004612.4(TGFBR1):c.505C>G (p.Pro169Ala)
|
rs1827278155
|
|
|
NM_004612.4(TGFBR1):c.529T>C (p.Leu177=)
|
rs1827279899
|
|
|
NM_004612.4(TGFBR1):c.538T>C (p.Leu180=)
|
rs1827280418
|
|
|
NM_004612.4(TGFBR1):c.558G>A (p.Thr186=)
|
rs538382054
|
|
|
NM_004612.4(TGFBR1):c.574+7_574+8del
|
|
|
|
NM_004612.4(TGFBR1):c.575-5T>G
|
rs1025639851
|
|
|
NM_004612.4(TGFBR1):c.575-9dup
|
rs863223798
|
|
|
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=)
|
rs200679996
|
|
|
NM_004612.4(TGFBR1):c.582A>T (p.Pro194=)
|
rs200679996
|
|
|
NM_004612.4(TGFBR1):c.603T>C (p.Ile201=)
|
rs1326484806
|
|
|
NM_004612.4(TGFBR1):c.617T>C (p.Val206Ala)
|
rs1827484742
|
|
|
NM_004612.4(TGFBR1):c.618G>T (p.Val206=)
|
rs1057523644
|
|
|
NM_004612.4(TGFBR1):c.623A>T (p.Gln208Leu)
|
rs1588585291
|
|
|
NM_004612.4(TGFBR1):c.651A>G (p.Gly217=)
|
rs1321254948
|
|
|
NM_004612.4(TGFBR1):c.654A>G (p.Glu218=)
|
|
|
|
NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp)
|
rs1564161544
|
|
|
NM_004612.4(TGFBR1):c.678A>G (p.Gly226=)
|
rs201444476
|
|
|
NM_004612.4(TGFBR1):c.691G>A (p.Val231Ile)
|
|
|
|
NM_004612.4(TGFBR1):c.702C>T (p.Phe234=)
|
rs202156059
|
|
|
NM_004612.4(TGFBR1):c.723G>A (p.Ser241=)
|
rs201112150
|
|
|
NM_004612.4(TGFBR1):c.730C>T (p.Arg244Cys)
|
rs2118718530
|
|
|
NM_004612.4(TGFBR1):c.735G>A (p.Glu245=)
|
rs1588585506
|
|
|
NM_004612.4(TGFBR1):c.741G>A (p.Glu247=)
|
rs764165477
|
|
|
NM_004612.4(TGFBR1):c.805+5del
|
rs1300823570
|
|
|
NM_004612.4(TGFBR1):c.805+7_805+17del
|
rs1827498513
|
|
|
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=)
|
rs886063224
|
|
|
NM_004612.4(TGFBR1):c.831_841del (p.Trp277_Asp281delinsTer)
|
rs1827647231
|
|
|
NM_004612.4(TGFBR1):c.842A>C (p.Asp281Ala)
|
rs1827647938
|
|
|
NM_004612.4(TGFBR1):c.854A>G (p.His285Arg)
|
rs1588590331
|
|
|
NM_004612.4(TGFBR1):c.854A>T (p.His285Leu)
|
rs1588590331
|
|
|
NM_004612.4(TGFBR1):c.882A>G (p.Arg294=)
|
|
|
|
NM_004612.4(TGFBR1):c.929C>A (p.Ala310Glu)
|
rs202010361
|
|
|
NM_004612.4(TGFBR1):c.930G>T (p.Ala310=)
|
|
|
|
NM_004612.4(TGFBR1):c.951C>T (p.His317=)
|
rs2118780749
|
|
|
NM_004612.4(TGFBR1):c.974-3del
|
rs1443971886
|
|
|
NM_004612.4(TGFBR1):c.98C>G (p.Ala33Gly)
|
rs1554698880
|
|
|
NM_004612.4(TGFBR1):c.98C>T (p.Ala33Val)
|
rs1554698880
|
|
|
NM_005159.5(ACTC1):c.*1G>A
|
|
|
|
NM_005159.5(ACTC1):c.*1G>T
|
rs1226132498
|
|
|
NM_005159.5(ACTC1):c.-14G>C
|
rs2140433368
|
|
|
NM_005159.5(ACTC1):c.-1G>A
|
rs748380799
|
|
|
NM_005159.5(ACTC1):c.1005T>C (p.Pro335=)
|
rs1179163467
|
|
|
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=)
|
rs748062476
|
|
|
NM_005159.5(ACTC1):c.1050T>C (p.Ser350=)
|
rs895745627
|
|
|
NM_005159.5(ACTC1):c.1078A>G (p.Ser360Gly)
|
rs1891681614
|
|
|
NM_005159.5(ACTC1):c.1093G>A (p.Asp365Asn)
|
rs2140428952
|
|
|
NM_005159.5(ACTC1):c.1128C>T (p.Cys376=)
|
rs1891679853
|
|
|
NM_005159.5(ACTC1):c.121C>A (p.Arg41=)
|
|
|
|
NM_005159.5(ACTC1):c.129+6C>G
|
rs564151494
|
|
|
NM_005159.5(ACTC1):c.130-11dup
|
rs2140432284
|
|
|
NM_005159.5(ACTC1):c.130-13T>A
|
rs1891753477
|
|
|
NM_005159.5(ACTC1):c.130-15T>G
|
rs376417852
|
|
|
NM_005159.5(ACTC1):c.130-5C>T
|
|
|
|
NM_005159.5(ACTC1):c.166G>A (p.Val56Ile)
|
rs944740404
|
|
|
NM_005159.5(ACTC1):c.180C>A (p.Ala60=)
|
rs370322510
|
|
|
NM_005159.5(ACTC1):c.18G>A (p.Glu6=)
|
rs1891783715
|
|
|
NM_005159.5(ACTC1):c.204C>T (p.Thr68=)
|
rs1891751214
|
|
|
NM_005159.5(ACTC1):c.234C>T (p.Ile78=)
|
rs1393400015
|
|
|
NM_005159.5(ACTC1):c.258G>A (p.Lys86=)
|
|
|
|
NM_005159.5(ACTC1):c.278A>G (p.Tyr93Cys)
|
rs1595761404
|
|
|
NM_005159.5(ACTC1):c.27C>T (p.Ala9=)
|
rs1595762043
|
|
|
NM_005159.5(ACTC1):c.294G>T (p.Val98=)
|
rs397517058
|
|
|
NM_005159.5(ACTC1):c.333G>C (p.Pro111=)
|
rs774767260
|
|
|
NM_005159.5(ACTC1):c.366T>C (p.Thr122=)
|
rs1595761353
|
|
|
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met)
|
rs397517061
|
|
|
NM_005159.5(ACTC1):c.377T>G (p.Phe126Cys)
|
rs1891746032
|
|
|
NM_005159.5(ACTC1):c.381G>A (p.Glu127=)
|
rs1405293135
|
|
|
NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser)
|
rs1595761325
|
|
|
NM_005159.5(ACTC1):c.398C>T (p.Ala133Val)
|
rs1257864393
|
|
|
NM_005159.5(ACTC1):c.414C>A (p.Ile138=)
|
rs1201685758
|
|
|
NM_005159.5(ACTC1):c.424C>T (p.Leu142=)
|
rs1891744697
|
|
|
NM_005159.5(ACTC1):c.463C>T (p.Leu155=)
|
|
|
|
NM_005159.5(ACTC1):c.48T>G (p.Ser16=)
|
rs1595762032
|
|
|
NM_005159.5(ACTC1):c.504T>A (p.Tyr168Ter)
|
rs2140430970
|
|
|
NM_005159.5(ACTC1):c.504T>C (p.Tyr168=)
|
rs2140430970
|
|
|
NM_005159.5(ACTC1):c.523dup (p.His175fs)
|
rs730880389
|
|
|
NM_005159.5(ACTC1):c.537T>A (p.Arg179=)
|
rs750131288
|
|
|
NM_005159.5(ACTC1):c.537T>C (p.Arg179=)
|
rs750131288
|
|
|
NM_005159.5(ACTC1):c.540G>C (p.Leu180=)
|
rs1891724758
|
|
|
NM_005159.5(ACTC1):c.555G>A (p.Arg185=)
|
|
|
|
NM_005159.5(ACTC1):c.558C>T (p.Asp186=)
|
rs1891724406
|
|
|
NM_005159.5(ACTC1):c.570C>T (p.Tyr190=)
|
rs1595760934
|
|
|
NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe)
|
rs1891723828
|
|
|
NM_005159.5(ACTC1):c.585C>T (p.Leu195=)
|
|
|
|
NM_005159.5(ACTC1):c.603C>T (p.Ser201=)
|
rs2140430845
|
|
|
NM_005159.5(ACTC1):c.617-12_617-11del
|
rs1891721057
|
|
|
NM_005159.5(ACTC1):c.617-7T>A
|
rs750536667
|
|
|
NM_005159.5(ACTC1):c.639C>T (p.Asp213=)
|
|
|
|
NM_005159.5(ACTC1):c.63C>A (p.Ala21=)
|
rs1595762020
|
|
|
NM_005159.5(ACTC1):c.681T>C (p.Asn227=)
|
rs1891719741
|
|
|
NM_005159.5(ACTC1):c.720G>A (p.Lys240=)
|
rs2140430578
|
|
|
NM_005159.5(ACTC1):c.72G>C (p.Ala24=)
|
rs778572289
|
|
|
NM_005159.5(ACTC1):c.741C>T (p.Gly247=)
|
rs1595760747
|
|
|
NM_005159.5(ACTC1):c.75C>T (p.Gly25=)
|
rs144819872
|
|
|
NM_005159.5(ACTC1):c.765G>A (p.Glu255=)
|
rs1891717558
|
|
|
NM_005159.5(ACTC1):c.774C>G (p.Arg258=)
|
rs903582519
|
|
|
NM_005159.5(ACTC1):c.798C>T (p.Pro266=)
|
rs397517068
|
|
|
NM_005159.5(ACTC1):c.802T>C (p.Phe268Leu)
|
rs2140430478
|
|
|
NM_005159.5(ACTC1):c.809-12_809-11del
|
rs1891699165
|
|
|
NM_005159.5(ACTC1):c.809-14_809-11delinsAA
|
|
|
|
NM_005159.5(ACTC1):c.809-1G>A
|
rs1566967122
|
|
|
NM_005159.5(ACTC1):c.809-4C>T
|
|
|
|
NM_005159.5(ACTC1):c.809-8G>T
|
rs767180775
|
|
|
NM_005159.5(ACTC1):c.839C>G (p.Thr280Ser)
|
rs1566967118
|
|
|
NM_005159.5(ACTC1):c.846T>C (p.Asn282=)
|
rs1566967111
|
|
|
NM_005159.5(ACTC1):c.855G>A (p.Met285Ile)
|
|
|
|
NM_005159.5(ACTC1):c.894C>T (p.Asn298=)
|
rs863225303
|
|
|
NM_005159.5(ACTC1):c.930T>C (p.Gly310=)
|
rs561081869
|
|
|
NM_005159.5(ACTC1):c.975C>T (p.Ser325=)
|
rs939520463
|
|
|
NM_005159.5(ACTC1):c.9C>T (p.Asp3=)
|
rs535623090
|
|
|
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)
|
rs80338938
|
|
|
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys)
|
rs80338938
|
|
|
NM_005572.4(LMNA):c.1711_1712delinsTC (p.Arg571Ser)
|
rs794728612
|
|
|
NM_005902.4(SMAD3):c.-17_-15delinsACA
|
rs2140188640
|
|
|
NM_005902.4(SMAD3):c.-2C>G
|
rs1490793198
|
|
|
NM_005902.4(SMAD3):c.1002C>A (p.Ile334=)
|
rs748178271
|
|
|
NM_005902.4(SMAD3):c.1017C>T (p.Asn339=)
|
rs1963248432
|
|
|
NM_005902.4(SMAD3):c.1020G>A (p.Leu340=)
|
rs1567003440
|
|
|
NM_005902.4(SMAD3):c.1045G>A (p.Ala349Thr)
|
rs1963249175
|
|
|
NM_005902.4(SMAD3):c.1062G>A (p.Gln354=)
|
rs1567003470
|
|
|
NM_005902.4(SMAD3):c.1083G>A (p.Glu361=)
|
rs1963250130
|
|
|
NM_005902.4(SMAD3):c.1106T>A (p.Met369Lys)
|
rs1294653592
|
|
|
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys)
|
rs863223746
|
|
|
NM_005902.4(SMAD3):c.1144G>A (p.Ala382Thr)
|
|
|
|
NM_005902.4(SMAD3):c.1154+4A>G
|
rs1963253277
|
|
|
NM_005902.4(SMAD3):c.1155-7C>T
|
rs2140327671
|
|
|
NM_005902.4(SMAD3):c.1166_1167del (p.Val389fs)
|
rs1595965925
|
|
|
NM_005902.4(SMAD3):c.1179C>T (p.Pro393=)
|
rs2140327732
|
|
|
NM_005902.4(SMAD3):c.1206G>T (p.Gly402=)
|
rs1963332496
|
|
|
NM_005902.4(SMAD3):c.1245C>T (p.Gly415=)
|
rs146659831
|
|
|
NM_005902.4(SMAD3):c.1259G>A (p.Arg420His)
|
rs762012589
|
|
|
NM_005902.4(SMAD3):c.1277A>T (p.Ter426Leu)
|
rs1555414505
|
|
|
NM_005902.4(SMAD3):c.135G>A (p.Thr45=)
|
|
|
|
NM_005902.4(SMAD3):c.145G>T (p.Asp49Tyr)
|
rs1959914506
|
|
|
NM_005902.4(SMAD3):c.147C>T (p.Asp49=)
|
rs1464740111
|
|
|
NM_005902.4(SMAD3):c.170C>A (p.Thr57Lys)
|
rs1959915488
|
|
|
NM_005902.4(SMAD3):c.198C>A (p.Thr66=)
|
rs2140189180
|
|
|
NM_005902.4(SMAD3):c.21del (p.Phe7fs)
|
rs1693718752
|
|
|
NM_005902.4(SMAD3):c.228G>A (p.Gln76=)
|
rs886041046
|
|
|
NM_005902.4(SMAD3):c.249C>T (p.Leu83=)
|
rs780111111
|
|
|
NM_005902.4(SMAD3):c.261C>T (p.Ile87=)
|
rs1421383761
|
|
|
NM_005902.4(SMAD3):c.27C>T (p.Pro9=)
|
rs765454938
|
|
|
NM_005902.4(SMAD3):c.292C>T (p.His98Tyr)
|
rs1962536933
|
|
|
NM_005902.4(SMAD3):c.309A>T (p.Leu103=)
|
rs1065080
|
|
|
NM_005902.4(SMAD3):c.309_310inv (p.Arg104Trp)
|
|
|
|
NM_005902.4(SMAD3):c.309_311delinsGCA (p.Arg104Gln)
|
rs2140294017
|
|
|
NM_005902.4(SMAD3):c.316A>T (p.Met106Leu)
|
|
|
|
NM_005902.4(SMAD3):c.322C>A (p.Leu108Met)
|
rs1595941782
|
|
|
NM_005902.4(SMAD3):c.340A>G (p.Asn114Asp)
|
rs2140294134
|
|
|
NM_005902.4(SMAD3):c.384G>C (p.Gln128His)
|
rs1962541593
|
|
|
NM_005902.4(SMAD3):c.401-10C>T
|
rs1243684484
|
|
|
NM_005902.4(SMAD3):c.401-11C>A
|
rs1962548669
|
|
|
NM_005902.4(SMAD3):c.432A>G (p.Thr144=)
|
|
|
|
NM_005902.4(SMAD3):c.441G>A (p.Pro147=)
|
rs140275295
|
|
|
NM_005902.4(SMAD3):c.445G>A (p.Glu149Lys)
|
rs1429991069
|
|
|
NM_005902.4(SMAD3):c.447G>A (p.Glu149=)
|
rs2140294813
|
|
|
NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu)
|
rs751860407
|
|
|
NM_005902.4(SMAD3):c.46C>G (p.Leu16Val)
|
rs2140188791
|
|
|
NM_005902.4(SMAD3):c.480C>A (p.Ile160=)
|
rs1566991810
|
|
|
NM_005902.4(SMAD3):c.483C>A (p.Pro161=)
|
rs202203039
|
|
|
NM_005902.4(SMAD3):c.490A>T (p.Thr164Ser)
|
rs1254152984
|
|
|
NM_005902.4(SMAD3):c.495C>T (p.Asn165=)
|
rs374111837
|
|
|
NM_005902.4(SMAD3):c.516C>T (p.Pro172=)
|
rs776144459
|
|
|
NM_005902.4(SMAD3):c.532+5G>T
|
rs1962555390
|
|
|
NM_005902.4(SMAD3):c.533-3C>T
|
|
|
|
NM_005902.4(SMAD3):c.534G>A (p.Glu178=)
|
rs2140296772
|
|
|
NM_005902.4(SMAD3):c.537C>T (p.Thr179=)
|
rs1459082643
|
|
|
NM_005902.4(SMAD3):c.546del (p.Gly183fs)
|
rs1962602493
|
|
|
NM_005902.4(SMAD3):c.564T>C (p.Asp188=)
|
rs1962603087
|
|
|
NM_005902.4(SMAD3):c.56A>G (p.Lys19Arg)
|
rs1959912294
|
|
|
NM_005902.4(SMAD3):c.602A>G (p.Asp201Gly)
|
rs1416321033
|
|
|
NM_005902.4(SMAD3):c.607+3C>G
|
rs1962605332
|
|
|
NM_005902.4(SMAD3):c.608-3C>T
|
rs1962719986
|
|
|
NM_005902.4(SMAD3):c.608G>A (p.Gly203Asp)
|
rs1962720069
|
|
|
NM_005902.4(SMAD3):c.625C>A (p.Pro209Thr)
|
|
|
|
NM_005902.4(SMAD3):c.626C>T (p.Pro209Leu)
|
rs1209899173
|
|
|
NM_005902.4(SMAD3):c.634A>T (p.Met212Leu)
|
rs1962721215
|
|
|
NM_005902.4(SMAD3):c.644C>G (p.Ala215Gly)
|
rs376353913
|
|
|
NM_005902.4(SMAD3):c.644C>T (p.Ala215Val)
|
rs376353913
|
|
|
NM_005902.4(SMAD3):c.652A>G (p.Asn218Asp)
|
rs1962722777
|
|
|
NM_005902.4(SMAD3):c.658+4A>C
|
|
|
|
NM_005902.4(SMAD3):c.658+5G>A
|
rs1962723153
|
|
|
NM_005902.4(SMAD3):c.659-12del
|
|
|
|
NM_005902.4(SMAD3):c.659-6C>T
|
rs1963044239
|
|
|
NM_005902.4(SMAD3):c.660C>T (p.Asp220=)
|
rs1963044305
|
|
|
NM_005902.4(SMAD3):c.661C>G (p.Leu221Val)
|
rs1566999319
|
|
|
NM_005902.4(SMAD3):c.676T>C (p.Tyr226His)
|
rs1963044923
|
|
|
NM_005902.4(SMAD3):c.678C>T (p.Tyr226=)
|
rs894595927
|
|
|
NM_005902.4(SMAD3):c.679T>G (p.Cys227Gly)
|
rs1963045127
|
|
|
NM_005902.4(SMAD3):c.686C>T (p.Pro229Leu)
|
rs1232187684
|
|
|
NM_005902.4(SMAD3):c.69G>A (p.Gln23=)
|
rs1959912683
|
|
|
NM_005902.4(SMAD3):c.728G>A (p.Arg243His)
|
rs863223736
|
|
|
NM_005902.4(SMAD3):c.741A>T (p.Thr247=)
|
rs201614771
|
|
|
NM_005902.4(SMAD3):c.756G>A (p.Gln252=)
|
rs1278345256
|
|
|
NM_005902.4(SMAD3):c.762C>A (p.Ser254=)
|
rs1963049270
|
|
|
NM_005902.4(SMAD3):c.763A>T (p.Met255Leu)
|
|
|
|
NM_005902.4(SMAD3):c.768T>G (p.Thr256=)
|
|
|
|
NM_005902.4(SMAD3):c.807C>T (p.Phe269=)
|
rs1963052117
|
|
|
NM_005902.4(SMAD3):c.816G>A (p.Gly272=)
|
rs1320490523
|
|
|
NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter)
|
rs863223750
|
|
|
NM_005902.4(SMAD3):c.839A>G (p.Asn280Ser)
|
rs1433790279
|
|
|
NM_005902.4(SMAD3):c.842C>T (p.Ala281Val)
|
rs1963053530
|
|
|
NM_005902.4(SMAD3):c.871+5G>A
|
rs1963055122
|
|
|
NM_005902.4(SMAD3):c.872-15C>A
|
rs747102986
|
|
|
NM_005902.4(SMAD3):c.872-15C>T
|
rs747102986
|
|
|
NM_005902.4(SMAD3):c.872-6C>T
|
rs1567001887
|
|
|
NM_005902.4(SMAD3):c.880G>A (p.Val294Met)
|
rs863223744
|
|
|
NM_005902.4(SMAD3):c.882G>A (p.Val294=)
|
rs1963175201
|
|
|
NM_005902.4(SMAD3):c.884G>A (p.Arg295Gln)
|
rs772730200
|
|
|
NM_005902.4(SMAD3):c.918G>A (p.Glu306=)
|
|
|
|
NM_005902.4(SMAD3):c.920G>A (p.Cys307Tyr)
|
|
|
|
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe)
|
rs764656928
|
|
|
NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr)
|
rs750756638
|
|
|
NM_005902.4(SMAD3):c.936T>C (p.Ala312=)
|
rs2140319998
|
|
|
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys)
|
rs967072552
|
|
|
NM_016203.4(PRKAG2):c.-3G>A
|
|
|
|
NM_016203.4(PRKAG2):c.-6AG[1]
|
rs1286229827
|
|
|
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr)
|
rs730880978
|
|
|
NM_016203.4(PRKAG2):c.1006-5T>A
|
rs1807870439
|
|
|
NM_016203.4(PRKAG2):c.1006-9T>C
|
rs1807871828
|
|
|
NM_016203.4(PRKAG2):c.1006-9dup
|
rs775574266
|
|
|
NM_016203.4(PRKAG2):c.102C>G (p.Arg34=)
|
rs1057522970
|
|
|
NM_016203.4(PRKAG2):c.103G>T (p.Val35Leu)
|
rs778222674
|
|
|
NM_016203.4(PRKAG2):c.1065A>G (p.Gln355=)
|
rs2151014676
|
|
|
NM_016203.4(PRKAG2):c.1070C>T (p.Thr357Ile)
|
rs1227002684
|
|
|
NM_016203.4(PRKAG2):c.1071A>G (p.Thr357=)
|
|
|
|
NM_016203.4(PRKAG2):c.108C>T (p.His36=)
|
rs753210415
|
|
|
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser)
|
rs769212614
|
|
|
NM_016203.4(PRKAG2):c.1107-11T>C
|
|
|
|
NM_016203.4(PRKAG2):c.1107-14G>C
|
rs201150309
|
|
|
NM_016203.4(PRKAG2):c.1107-9C>T
|
rs1806877306
|
|
|
NM_016203.4(PRKAG2):c.114+3G>A
|
rs2151920361
|
|
|
NM_016203.4(PRKAG2):c.1158C>T (p.Pro386=)
|
rs747247488
|
|
|
NM_016203.4(PRKAG2):c.1184C>T (p.Ala395Val)
|
rs1806859703
|
|
|
NM_016203.4(PRKAG2):c.1192A>G (p.Ile398Val)
|
rs2151008313
|
|
|
NM_016203.4(PRKAG2):c.1204A>G (p.Lys402Glu)
|
rs1806853581
|
|
|
NM_016203.4(PRKAG2):c.1246C>T (p.Pro416Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.1248A>G (p.Pro416=)
|
rs1806133228
|
|
|
NM_016203.4(PRKAG2):c.125C>T (p.Ser42Phe)
|
|
|
|
NM_016203.4(PRKAG2):c.1303A>G (p.Asn435Asp)
|
rs1806116546
|
|
|
NM_016203.4(PRKAG2):c.1311C>T (p.Ala437=)
|
rs1258494294
|
|
|
NM_016203.4(PRKAG2):c.1314C>T (p.Phe438=)
|
rs1563145514
|
|
|
NM_016203.4(PRKAG2):c.1319A>G (p.His440Arg)
|
rs1806111411
|
|
|
NM_016203.4(PRKAG2):c.1328C>T (p.Thr443Ile)
|
|
|
|
NM_016203.4(PRKAG2):c.1333A>T (p.Ile445Phe)
|
rs1344209675
|
|
|
NM_016203.4(PRKAG2):c.1347G>A (p.Leu449=)
|
rs1806106223
|
|
|
NM_016203.4(PRKAG2):c.1357G>T (p.Val453Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.1366C>G (p.Arg456Gly)
|
rs779098740
|
|
|
NM_016203.4(PRKAG2):c.1394A>G (p.Glu465Gly)
|
|
|
|
NM_016203.4(PRKAG2):c.1407_1408delinsGA (p.Val470Ile)
|
rs1806009426
|
|
|
NM_016203.4(PRKAG2):c.1413T>C (p.Asp471=)
|
rs1198002481
|
|
|
NM_016203.4(PRKAG2):c.1437+1G>A
|
rs2150993817
|
|
|
NM_016203.4(PRKAG2):c.1466A>G (p.Asn489Ser)
|
rs1805707497
|
|
|
NM_016203.4(PRKAG2):c.1482G>A (p.Val494=)
|
rs770308227
|
|
|
NM_016203.4(PRKAG2):c.1535A>G (p.Asn512Ser)
|
rs766113743
|
|
|
NM_016203.4(PRKAG2):c.1535A>T (p.Asn512Ile)
|
rs766113743
|
|
|
NM_016203.4(PRKAG2):c.1555A>G (p.Thr519Ala)
|
rs1060503024
|
|
|
NM_016203.4(PRKAG2):c.1560C>T (p.Ile520=)
|
rs376762359
|
|
|
NM_016203.4(PRKAG2):c.1561G>A (p.Val521Met)
|
rs767550594
|
|
|
NM_016203.4(PRKAG2):c.1585-3C>T
|
rs1804723787
|
|
|
NM_016203.4(PRKAG2):c.1585-9T>A
|
rs1804726095
|
|
|
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu)
|
rs121908991
|
|
|
NM_016203.4(PRKAG2):c.1615G>A (p.Asp539Asn)
|
rs1804709862
|
|
|
NM_016203.4(PRKAG2):c.1618A>G (p.Ser540Gly)
|
rs1804709282
|
|
|
NM_016203.4(PRKAG2):c.1629T>A (p.Gly543=)
|
rs1258497596
|
|
|
NM_016203.4(PRKAG2):c.1630A>T (p.Ile544Phe)
|
|
|
|
NM_016203.4(PRKAG2):c.1635T>C (p.Ile545=)
|
rs1804702981
|
|
|
NM_016203.4(PRKAG2):c.1658C>A (p.Ala553Asp)
|
rs2150971447
|
|
|
NM_016203.4(PRKAG2):c.1662G>C (p.Leu554=)
|
rs1318736668
|
|
|
NM_016203.4(PRKAG2):c.1669A>C (p.Thr557Pro)
|
rs2150971355
|
|
|
NM_016203.4(PRKAG2):c.1676C>T (p.Ala559Val)
|
rs1804693201
|
|
|
NM_016203.4(PRKAG2):c.1678+5A>G
|
rs1804692531
|
|
|
NM_016203.4(PRKAG2):c.1679-14C>T
|
rs1803943848
|
|
|
NM_016203.4(PRKAG2):c.1686A>G (p.Lys562=)
|
|
|
|
NM_016203.4(PRKAG2):c.1688A>G (p.Gln563Arg)
|
rs1803937738
|
|
|
NM_016203.4(PRKAG2):c.1689A>G (p.Gln563=)
|
|
|
|
NM_016203.4(PRKAG2):c.1698A>C (p.Thr566=)
|
|
|
|
NM_016203.4(PRKAG2):c.1705dup (p.Glu569fs)
|
rs1803935878
|
|
|
NM_016203.4(PRKAG2):c.171G>A (p.Lys57=)
|
rs2077016039
|
|
|
NM_016203.4(PRKAG2):c.173A>T (p.His58Leu)
|
rs1289539756
|
|
|
NM_016203.4(PRKAG2):c.187-5T>C
|
|
|
|
NM_016203.4(PRKAG2):c.187-8T>C
|
rs1220186527
|
|
|
NM_016203.4(PRKAG2):c.187G>A (p.Val63Met)
|
rs1288414866
|
|
|
NM_016203.4(PRKAG2):c.189G>T (p.Val63=)
|
rs1216653645
|
|
|
NM_016203.4(PRKAG2):c.196C>T (p.Pro66Ser)
|
rs764915841
|
|
|
NM_016203.4(PRKAG2):c.200T>G (p.Phe67Cys)
|
rs2151803877
|
|
|
NM_016203.4(PRKAG2):c.206C>G (p.Pro69Arg)
|
|
|
|
NM_016203.4(PRKAG2):c.207G>T (p.Pro69=)
|
rs144384573
|
|
|
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala)
|
rs199963585
|
|
|
NM_016203.4(PRKAG2):c.224G>T (p.Gly75Val)
|
rs199963585
|
|
|
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu)
|
rs757900380
|
|
|
NM_016203.4(PRKAG2):c.252G>A (p.Arg84=)
|
rs2076658352
|
|
|
NM_016203.4(PRKAG2):c.26A>T (p.Lys9Met)
|
rs574029693
|
|
|
NM_016203.4(PRKAG2):c.286A>C (p.Lys96Gln)
|
rs2076656799
|
|
|
NM_016203.4(PRKAG2):c.295C>T (p.Pro99Ser)
|
rs773748344
|
|
|
NM_016203.4(PRKAG2):c.303T>C (p.Ser101=)
|
rs774628602
|
|
|
NM_016203.4(PRKAG2):c.311C>A (p.Thr104Asn)
|
rs2076655530
|
|
|
NM_016203.4(PRKAG2):c.326_328del (p.Ser109del)
|
rs2076654551
|
|
|
NM_016203.4(PRKAG2):c.341C>G (p.Pro114Arg)
|
rs375174733
|
|
|
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)
|
rs375174733
|
|
|
NM_016203.4(PRKAG2):c.358C>T (p.Arg120Cys)
|
rs763144065
|
|
|
NM_016203.4(PRKAG2):c.359G>A (p.Arg120His)
|
rs775756069
|
|
|
NM_016203.4(PRKAG2):c.389C>A (p.Ser130Tyr)
|
rs748790230
|
|
|
NM_016203.4(PRKAG2):c.392C>G (p.Ser131Cys)
|
|
|
|
NM_016203.4(PRKAG2):c.393C>G (p.Ser131=)
|
|
|
|
NM_016203.4(PRKAG2):c.426C>G (p.Thr142=)
|
rs1050947205
|
|
|
NM_016203.4(PRKAG2):c.435G>C (p.Gly145=)
|
rs1432408242
|
|
|
NM_016203.4(PRKAG2):c.441C>A (p.Ile147=)
|
|
|
|
NM_016203.4(PRKAG2):c.443G>C (p.Arg148Thr)
|
rs2076649283
|
|
|
NM_016203.4(PRKAG2):c.447T>A (p.Phe149Leu)
|
rs1490431197
|
|
|
NM_016203.4(PRKAG2):c.452C>G (p.Ser151Cys)
|
|
|
|
NM_016203.4(PRKAG2):c.458C>G (p.Ser153Cys)
|
rs1586486518
|
|
|
NM_016203.4(PRKAG2):c.467-10T>C
|
rs727503378
|
|
|
NM_016203.4(PRKAG2):c.467-10T>G
|
rs727503378
|
|
|
NM_016203.4(PRKAG2):c.469_471dup (p.Ser157dup)
|
rs1832797348
|
|
|
NM_016203.4(PRKAG2):c.471C>A (p.Ser157=)
|
rs141804012
|
|
|
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=)
|
rs141804012
|
|
|
NM_016203.4(PRKAG2):c.482C>G (p.Ser161Cys)
|
rs748557485
|
|
|
NM_016203.4(PRKAG2):c.485C>G (p.Ser162Cys)
|
|
|
|
NM_016203.4(PRKAG2):c.513G>A (p.Lys171=)
|
rs2151477317
|
|
|
NM_016203.4(PRKAG2):c.516G>A (p.Gln172=)
|
rs1022959045
|
|
|
NM_016203.4(PRKAG2):c.524T>G (p.Phe175Cys)
|
rs2151477251
|
|
|
NM_016203.4(PRKAG2):c.528C>G (p.Pro176=)
|
|
|
|
NM_016203.4(PRKAG2):c.546C>G (p.His182Gln)
|
rs1221506447
|
|
|
NM_016203.4(PRKAG2):c.550C>T (p.Pro184Ser)
|
rs545533727
|
|
|
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp)
|
rs200392688
|
|
|
NM_016203.4(PRKAG2):c.557G>T (p.Arg186Leu)
|
rs145006140
|
|
|
NM_016203.4(PRKAG2):c.562G>A (p.Glu188Lys)
|
rs772303730
|
|
|
NM_016203.4(PRKAG2):c.584C>T (p.Ser195Phe)
|
rs750592417
|
|
|
NM_016203.4(PRKAG2):c.591C>A (p.Pro197=)
|
rs587781126
|
|
|
NM_016203.4(PRKAG2):c.592C>G (p.Pro198Ala)
|
rs753859556
|
|
|
NM_016203.4(PRKAG2):c.593C>G (p.Pro198Arg)
|
rs41317142
|
|
|
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs)
|
rs397517275
|
|
|
NM_016203.4(PRKAG2):c.607_625del (p.Arg203fs)
|
rs2151476744
|
|
|
NM_016203.4(PRKAG2):c.608G>A (p.Arg203Lys)
|
|
|
|
NM_016203.4(PRKAG2):c.609G>A (p.Arg203=)
|
rs2151476806
|
|
|
NM_016203.4(PRKAG2):c.618G>T (p.Pro206=)
|
rs145827515
|
|
|
NM_016203.4(PRKAG2):c.629A>T (p.Gln210Leu)
|
rs1585679990
|
|
|
NM_016203.4(PRKAG2):c.633C>T (p.Ser211=)
|
rs1460770982
|
|
|
NM_016203.4(PRKAG2):c.641G>A (p.Arg214Lys)
|
rs781267213
|
|
|
NM_016203.4(PRKAG2):c.660G>T (p.Pro220=)
|
rs774279454
|
|
|
NM_016203.4(PRKAG2):c.661A>G (p.Thr221Ala)
|
rs1832761436
|
|
|
NM_016203.4(PRKAG2):c.667T>A (p.Tyr223Asn)
|
rs730880974
|
|
|
NM_016203.4(PRKAG2):c.66C>G (p.Gly22=)
|
rs730880971
|
|
|
NM_016203.4(PRKAG2):c.675C>G (p.Pro225=)
|
rs1832757826
|
|
|
NM_016203.4(PRKAG2):c.679A>C (p.Lys227Gln)
|
rs766460601
|
|
|
NM_016203.4(PRKAG2):c.684+1G>A
|
rs1457532924
|
|
|
NM_016203.4(PRKAG2):c.685-19TCC[5]
|
rs1265462032
|
|
|
NM_016203.4(PRKAG2):c.685-6C>T
|
rs772481251
|
|
|
NM_016203.4(PRKAG2):c.685-7C>T
|
rs397517278
|
|
|
NM_016203.4(PRKAG2):c.685-9C>T
|
rs1824696243
|
|
|
NM_016203.4(PRKAG2):c.687G>A (p.Ala229=)
|
rs1824684465
|
|
|
NM_016203.4(PRKAG2):c.693G>A (p.Leu231=)
|
rs931540862
|
|
|
NM_016203.4(PRKAG2):c.706G>C (p.Gly236Arg)
|
rs1183522324
|
|
|
NM_016203.4(PRKAG2):c.720C>G (p.Ala240=)
|
rs752351250
|
|
|
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)
|
rs543247293
|
|
|
NM_016203.4(PRKAG2):c.751G>T (p.Glu251Ter)
|
rs796699703
|
|
|
NM_016203.4(PRKAG2):c.755-8T>C
|
rs1814254922
|
|
|
NM_016203.4(PRKAG2):c.757G>A (p.Val253Ile)
|
rs1814251529
|
|
|
NM_016203.4(PRKAG2):c.758T>C (p.Val253Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.767C>T (p.Ser256Leu)
|
rs2151134988
|
|
|
NM_016203.4(PRKAG2):c.787C>T (p.Arg263Ter)
|
rs886062100
|
|
|
NM_016203.4(PRKAG2):c.790T>A (p.Phe264Ile)
|
rs1814241368
|
|
|
NM_016203.4(PRKAG2):c.807G>A (p.Lys269=)
|
rs727504618
|
|
|
NM_016203.4(PRKAG2):c.810T>C (p.Cys270=)
|
rs61752000
|
|
|
NM_016203.4(PRKAG2):c.816C>T (p.Asp272=)
|
rs2151134561
|
|
|
NM_016203.4(PRKAG2):c.846C>T (p.Val282=)
|
rs1563213791
|
|
|
NM_016203.4(PRKAG2):c.84G>A (p.Gln28=)
|
rs1586767586
|
|
|
NM_016203.4(PRKAG2):c.851A>C (p.Asp284Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.864A>C (p.Gln288His)
|
rs1814227620
|
|
|
NM_016203.4(PRKAG2):c.865-14del
|
rs750383082
|
|
|
NM_016203.4(PRKAG2):c.865-15C>T
|
rs1808957192
|
|
|
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile)
|
rs397517282
|
|
|
NM_016203.4(PRKAG2):c.898G>A (p.Gly300Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.900T>A (p.Gly300=)
|
rs1334497430
|
|
|
NM_016203.4(PRKAG2):c.909A>C (p.Ala303=)
|
rs2151043022
|
|
|
NM_016203.4(PRKAG2):c.90G>T (p.Arg30Ser)
|
rs1268890991
|
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
|
NM_016203.4(PRKAG2):c.912G>T (p.Ala304=)
|
rs145029525
|
|
|
NM_016203.4(PRKAG2):c.915A>C (p.Pro305=)
|
|
|
|
NM_016203.4(PRKAG2):c.915A>T (p.Pro305=)
|
rs998511488
|
|
|
NM_016203.4(PRKAG2):c.928A>G (p.Lys310Glu)
|
|
|
|
NM_016203.4(PRKAG2):c.938G>A (p.Ser313Asn)
|
rs748873027
|
|
|
NM_016203.4(PRKAG2):c.947-7G>A
|
rs1554464198
|
|
|
NM_016203.4(PRKAG2):c.987A>G (p.Arg329=)
|
rs1808524694
|
|
|
NM_016203.4(PRKAG2):c.993T>C (p.Tyr331=)
|
rs397517284
|
|
|
NM_024334.3(TMEM43):c.-15G>A
|
rs1397752021
|
|
|
NM_024334.3(TMEM43):c.-3A>G
|
rs763829810
|
|
|
NM_024334.3(TMEM43):c.-3A>T
|
rs763829810
|
|
|
NM_024334.3(TMEM43):c.1001-3C>T
|
rs1553603640
|
|
|
NM_024334.3(TMEM43):c.1005C>A (p.Asp335Glu)
|
rs2124997146
|
|
|
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu)
|
rs17856369
|
|
|
NM_024334.3(TMEM43):c.1015_1016dup (p.Arg341fs)
|
rs1695246708
|
|
|
NM_024334.3(TMEM43):c.1019T>C (p.Phe340Ser)
|
rs1559363663
|
|
|
NM_024334.3(TMEM43):c.1031T>G (p.Val344Gly)
|
|
|
|
NM_024334.3(TMEM43):c.1038T>C (p.Ile346=)
|
rs1695247267
|
|
|
NM_024334.3(TMEM43):c.1042C>G (p.Leu348Val)
|
rs769793469
|
|
|
NM_024334.3(TMEM43):c.1056C>T (p.Ala352=)
|
rs772960578
|
|
|
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser)
|
rs187262922
|
|
|
NM_024334.3(TMEM43):c.1061G>T (p.Cys354Phe)
|
rs187262922
|
|
|
NM_024334.3(TMEM43):c.1072T>C (p.Ser358Pro)
|
rs1559363695
|
|
|
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)
|
rs63750743
|
|
|
NM_024334.3(TMEM43):c.1077G>C (p.Leu359=)
|
|
|
|
NM_024334.3(TMEM43):c.1080C>T (p.Thr360=)
|
rs370839609
|
|
|
NM_024334.3(TMEM43):c.108G>A (p.Met36Ile)
|
rs1695064905
|
|
|
NM_024334.3(TMEM43):c.109T>C (p.Phe37Leu)
|
rs1695064937
|
|
|
NM_024334.3(TMEM43):c.110T>G (p.Phe37Cys)
|
rs1695064977
|
|
|
NM_024334.3(TMEM43):c.1120del (p.Leu374fs)
|
rs1695249540
|
|
|
NM_024334.3(TMEM43):c.112G>A (p.Val38Met)
|
rs977468112
|
|
|
NM_024334.3(TMEM43):c.1135A>G (p.Ile379Val)
|
rs759390824
|
|
|
NM_024334.3(TMEM43):c.1139C>G (p.Ala380Gly)
|
|
|
|
NM_024334.3(TMEM43):c.1149_1150delinsTA (p.Leu384Ile)
|
rs1695250554
|
|
|
NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val)
|
rs193922706
|
|
|
NM_024334.3(TMEM43):c.1150C>T (p.Leu384Phe)
|
rs193922706
|
|
|
NM_024334.3(TMEM43):c.1159A>G (p.Ile387Val)
|
rs541565919
|
|
|
NM_024334.3(TMEM43):c.1164T>G (p.Leu388=)
|
rs1035334505
|
|
|
NM_024334.3(TMEM43):c.1168G>T (p.Ala390Ser)
|
rs1695251084
|
|
|
NM_024334.3(TMEM43):c.1171C>T (p.Arg391Trp)
|
rs1574942204
|
|
|
NM_024334.3(TMEM43):c.117G>C (p.Gly39=)
|
rs1231946683
|
|
|
NM_024334.3(TMEM43):c.1184C>A (p.Pro395Gln)
|
rs1169613716
|
|
|
NM_024334.3(TMEM43):c.1187C>T (p.Ala396Val)
|
rs1339511658
|
|
|
NM_024334.3(TMEM43):c.1198G>T (p.Glu400Ter)
|
rs1252529536
|
|
|
NM_024334.3(TMEM43):c.12+1G>A
|
rs1239667599
|
|
|
NM_024334.3(TMEM43):c.13-1G>C
|
rs2124985459
|
|
|
NM_024334.3(TMEM43):c.13-3C>T
|
|
|
|
NM_024334.3(TMEM43):c.130del (p.Leu44fs)
|
rs2124985708
|
|
|
NM_024334.3(TMEM43):c.133C>T (p.Leu45Phe)
|
|
|
|
NM_024334.3(TMEM43):c.143A>C (p.Tyr48Ser)
|
rs1553602871
|
|
|
NM_024334.3(TMEM43):c.162+1G>A
|
rs1695065907
|
|
|
NM_024334.3(TMEM43):c.162G>C (p.Glu54Asp)
|
rs746126153
|
|
|
NM_024334.3(TMEM43):c.163-3del
|
rs371706980
|
|
|
NM_024334.3(TMEM43):c.169G>T (p.Ala57Ser)
|
rs151010429
|
|
|
NM_024334.3(TMEM43):c.173T>G (p.Leu58Trp)
|
|
|
|
NM_024334.3(TMEM43):c.180G>C (p.Thr60=)
|
rs765703685
|
|
|
NM_024334.3(TMEM43):c.184A>G (p.Thr62Ala)
|
|
|
|
NM_024334.3(TMEM43):c.185C>T (p.Thr62Ile)
|
|
|
|
NM_024334.3(TMEM43):c.193G>T (p.Ala65Ser)
|
rs1695084511
|
|
|
NM_024334.3(TMEM43):c.204C>T (p.Leu68=)
|
rs752403292
|
|
|
NM_024334.3(TMEM43):c.209T>C (p.Leu70Pro)
|
rs1695084924
|
|
|
NM_024334.3(TMEM43):c.220C>T (p.Pro74Ser)
|
rs1695085245
|
|
|
NM_024334.3(TMEM43):c.227del (p.Ser76fs)
|
|
|
|
NM_024334.3(TMEM43):c.237T>C (p.Ser79=)
|
rs1559360551
|
|
|
NM_024334.3(TMEM43):c.238G>C (p.Val80Leu)
|
rs2124987038
|
|
|
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu)
|
rs771454768
|
|
|
NM_024334.3(TMEM43):c.25A>C (p.Ser9Arg)
|
|
|
|
NM_024334.3(TMEM43):c.25A>G (p.Ser9Gly)
|
rs1054032061
|
|
|
NM_024334.3(TMEM43):c.265G>A (p.Val89Met)
|
rs147319971
|
|
|
NM_024334.3(TMEM43):c.267G>A (p.Val89=)
|
rs763697982
|
|
|
NM_024334.3(TMEM43):c.26G>C (p.Ser9Thr)
|
rs1695062743
|
|
|
NM_024334.3(TMEM43):c.27T>C (p.Ser9=)
|
rs1695062781
|
|
|
NM_024334.3(TMEM43):c.281C>T (p.Ala94Val)
|
|
|
|
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln)
|
rs748343919
|
|
|
NM_024334.3(TMEM43):c.296A>C (p.Lys99Thr)
|
|
|
|
NM_024334.3(TMEM43):c.298-13A>G
|
rs1695095913
|
|
|
NM_024334.3(TMEM43):c.298-5T>A
|
rs1027914711
|
|
|
NM_024334.3(TMEM43):c.298-7T>A
|
rs1695095938
|
|
|
NM_024334.3(TMEM43):c.2T>A (p.Met1Lys)
|
rs765619239
|
|
|
NM_024334.3(TMEM43):c.304T>G (p.Ser102Ala)
|
|
|
|
NM_024334.3(TMEM43):c.30C>T (p.Thr10=)
|
rs757554576
|
|
|
NM_024334.3(TMEM43):c.316T>C (p.Tyr106His)
|
rs1695096147
|
|
|
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly)
|
rs201085402
|
|
|
NM_024334.3(TMEM43):c.322G>A (p.Val108Ile)
|
rs2124987801
|
|
|
NM_024334.3(TMEM43):c.330T>C (p.Leu110=)
|
rs2124987823
|
|
|
NM_024334.3(TMEM43):c.332C>T (p.Pro111Leu)
|
|
|
|
NM_024334.3(TMEM43):c.337G>A (p.Val113Met)
|
rs572474708
|
|
|
NM_024334.3(TMEM43):c.349A>T (p.Arg117Trp)
|
rs1695096953
|
|
|
NM_024334.3(TMEM43):c.35G>A (p.Arg12Lys)
|
rs1559359985
|
|
|
NM_024334.3(TMEM43):c.362T>C (p.Met121Thr)
|
rs1286177938
|
|
|
NM_024334.3(TMEM43):c.362T>G (p.Met121Arg)
|
rs1286177938
|
|
|
NM_024334.3(TMEM43):c.366C>T (p.Tyr122=)
|
rs2124987907
|
|
|
NM_024334.3(TMEM43):c.371G>A (p.Trp124Ter)
|
rs2124987915
|
|
|
NM_024334.3(TMEM43):c.392+1G>T
|
rs1559360791
|
|
|
NM_024334.3(TMEM43):c.393-2A>C
|
|
|
|
NM_024334.3(TMEM43):c.393-4G>T
|
rs1247757810
|
|
|
NM_024334.3(TMEM43):c.399C>T (p.Tyr133=)
|
rs876657589
|
|
|
NM_024334.3(TMEM43):c.404A>C (p.Glu135Ala)
|
rs2124988762
|
|
|
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del)
|
rs746639451
|
|
|
NM_024334.3(TMEM43):c.421A>G (p.Lys141Glu)
|
|
|
|
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln)
|
rs145619906
|
|
|
NM_024334.3(TMEM43):c.42T>A (p.His14Gln)
|
|
|
|
NM_024334.3(TMEM43):c.432G>A (p.Arg144=)
|
|
|
|
NM_024334.3(TMEM43):c.437C>T (p.Ser146Phe)
|
rs1053499435
|
|
|
NM_024334.3(TMEM43):c.440A>G (p.Tyr147Cys)
|
rs766312977
|
|
|
NM_024334.3(TMEM43):c.446C>T (p.Thr149Ile)
|
rs1695115690
|
|
|
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu)
|
rs1369869806
|
|
|
NM_024334.3(TMEM43):c.45C>G (p.Val15=)
|
rs150334659
|
|
|
NM_024334.3(TMEM43):c.463A>G (p.Ile155Val)
|
rs1695115973
|
|
|
NM_024334.3(TMEM43):c.47A>G (p.Lys16Arg)
|
rs770619613
|
|
|
NM_024334.3(TMEM43):c.485A>G (p.Asp162Gly)
|
rs1312639832
|
|
|
NM_024334.3(TMEM43):c.488G>A (p.Arg163Gln)
|
rs759676847
|
|
|
NM_024334.3(TMEM43):c.48A>C (p.Lys16Asn)
|
rs1695063356
|
|
|
NM_024334.3(TMEM43):c.492G>C (p.Glu164Asp)
|
rs949064136
|
|
|
NM_024334.3(TMEM43):c.496G>C (p.Gly166Arg)
|
rs1354385104
|
|
|
NM_024334.3(TMEM43):c.499C>G (p.His167Asp)
|
rs1553603052
|
|
|
NM_024334.3(TMEM43):c.507C>G (p.Asn169Lys)
|
rs1190919354
|
|
|
NM_024334.3(TMEM43):c.50T>C (p.Val17Ala)
|
rs1695063437
|
|
|
NM_024334.3(TMEM43):c.512+3G>A
|
rs754209349
|
|
|
NM_024334.3(TMEM43):c.513-11C>T
|
rs1695130290
|
|
|
NM_024334.3(TMEM43):c.526G>A (p.Glu176Lys)
|
|
|
|
NM_024334.3(TMEM43):c.527A>G (p.Glu176Gly)
|
|
|
|
NM_024334.3(TMEM43):c.528G>C (p.Glu176Asp)
|
rs2124989901
|
|
|
NM_024334.3(TMEM43):c.531A>T (p.Ser177=)
|
rs1695130809
|
|
|
NM_024334.3(TMEM43):c.544G>A (p.Ala182Thr)
|
rs757013233
|
|
|
NM_024334.3(TMEM43):c.548C>T (p.Pro183Leu)
|
rs746116143
|
|
|
NM_024334.3(TMEM43):c.556C>T (p.Gln186Ter)
|
rs1553603107
|
|
|
NM_024334.3(TMEM43):c.568T>A (p.Phe190Ile)
|
rs768718054
|
|
|
NM_024334.3(TMEM43):c.583+6T>A
|
|
|
|
NM_024334.3(TMEM43):c.584-14T>G
|
rs1695143733
|
|
|
NM_024334.3(TMEM43):c.584-14del
|
rs1695143759
|
|
|
NM_024334.3(TMEM43):c.584-5C>T
|
rs932265324
|
|
|
NM_024334.3(TMEM43):c.584G>A (p.Gly195Asp)
|
rs1458517961
|
|
|
NM_024334.3(TMEM43):c.609del (p.Phe203fs)
|
rs1313993263
|
|
|
NM_024334.3(TMEM43):c.624A>T (p.Leu208=)
|
rs527942696
|
|
|
NM_024334.3(TMEM43):c.626C>T (p.Ser209Phe)
|
rs1553603146
|
|
|
NM_024334.3(TMEM43):c.630G>A (p.Lys210=)
|
rs1057523392
|
|
|
NM_024334.3(TMEM43):c.631C>G (p.Leu211Val)
|
rs1209223184
|
|
|
NM_024334.3(TMEM43):c.636G>A (p.Glu212=)
|
rs1695145292
|
|
|
NM_024334.3(TMEM43):c.639C>T (p.Asp213=)
|
|
|
|
NM_024334.3(TMEM43):c.640C>G (p.Pro214Ala)
|
rs1574939150
|
|
|
NM_024334.3(TMEM43):c.645T>C (p.His215=)
|
rs370782259
|
|
|
NM_024334.3(TMEM43):c.645T>G (p.His215Gln)
|
rs370782259
|
|
|
NM_024334.3(TMEM43):c.646G>T (p.Val216Leu)
|
rs143735210
|
|
|
NM_024334.3(TMEM43):c.649G>A (p.Asp217Asn)
|
rs2124990891
|
|
|
NM_024334.3(TMEM43):c.654C>G (p.Ile218Met)
|
rs755270250
|
|
|
NM_024334.3(TMEM43):c.658C>G (p.Arg220Gly)
|
|
|
|
NM_024334.3(TMEM43):c.670T>C (p.Phe224Leu)
|
rs1695146244
|
|
|
NM_024334.3(TMEM43):c.675C>G (p.Phe225Leu)
|
rs1559361776
|
|
|
NM_024334.3(TMEM43):c.679C>T (p.His227Tyr)
|
rs201460674
|
|
|
NM_024334.3(TMEM43):c.682A>G (p.Ser228Gly)
|
|
|
|
NM_024334.3(TMEM43):c.682A>T (p.Ser228Cys)
|
rs776147178
|
|
|
NM_024334.3(TMEM43):c.699T>A (p.Tyr233Ter)
|
rs1321317891
|
|
|
NM_024334.3(TMEM43):c.6C>A (p.Ala2=)
|
rs1262797668
|
|
|
NM_024334.3(TMEM43):c.706-4C>G
|
rs760936714
|
|
|
NM_024334.3(TMEM43):c.706-4C>T
|
rs760936714
|
|
|
NM_024334.3(TMEM43):c.718C>A (p.Arg240Ser)
|
rs367910936
|
|
|
NM_024334.3(TMEM43):c.732del (p.Tyr245fs)
|
|
|
|
NM_024334.3(TMEM43):c.737C>T (p.Ala246Val)
|
|
|
|
NM_024334.3(TMEM43):c.743T>C (p.Leu248Pro)
|
rs774356401
|
|
|
NM_024334.3(TMEM43):c.749dup (p.Asp251fs)
|
rs1695151947
|
|
|
NM_024334.3(TMEM43):c.750C>G (p.Gly250=)
|
|
|
|
NM_024334.3(TMEM43):c.753T>C (p.Asp251=)
|
rs2124991349
|
|
|
NM_024334.3(TMEM43):c.772G>C (p.Ala258Pro)
|
|
|
|
NM_024334.3(TMEM43):c.781-2A>G
|
rs1198392753
|
|
|
NM_024334.3(TMEM43):c.781-3C>G
|
|
|
|
NM_024334.3(TMEM43):c.781G>A (p.Val261Ile)
|
rs1695161234
|
|
|
NM_024334.3(TMEM43):c.784A>C (p.Thr262Pro)
|
rs2124991955
|
|
|
NM_024334.3(TMEM43):c.788_789del (p.Val263fs)
|
rs1489814713
|
|
|
NM_024334.3(TMEM43):c.793G>A (p.Ala265Thr)
|
|
|
|
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln)
|
rs769969149
|
|
|
NM_024334.3(TMEM43):c.814C>T (p.Leu272=)
|
rs759993739
|
|
|
NM_024334.3(TMEM43):c.822_824del (p.Phe275del)
|
rs1695162181
|
|
|
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg)
|
rs1427535931
|
|
|
NM_024334.3(TMEM43):c.846C>T (p.Thr282=)
|
rs1384290838
|
|
|
NM_024334.3(TMEM43):c.849A>G (p.Leu283=)
|
rs1695162928
|
|
|
NM_024334.3(TMEM43):c.852_853delinsAA (p.Leu285Ile)
|
rs1695163023
|
|
|
NM_024334.3(TMEM43):c.853C>T (p.Leu285Phe)
|
rs186530498
|
|
|
NM_024334.3(TMEM43):c.86T>C (p.Leu29Pro)
|
rs1695064359
|
|
|
NM_024334.3(TMEM43):c.882+3G>C
|
|
|
|
NM_024334.3(TMEM43):c.883-6C>G
|
rs2124995129
|
|
|
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile)
|
rs990243563
|
|
|
NM_024334.3(TMEM43):c.892C>G (p.His298Asp)
|
rs1559363073
|
|
|
NM_024334.3(TMEM43):c.893A>C (p.His298Pro)
|
rs1285837389
|
|
|
NM_024334.3(TMEM43):c.898G>T (p.Glu300Ter)
|
rs746029667
|
|
|
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn)
|
rs570799464
|
|
|
NM_024334.3(TMEM43):c.914C>A (p.Ser305Tyr)
|
rs777277570
|
|
|
NM_024334.3(TMEM43):c.917_918delinsCT (p.Met306Thr)
|
rs1553603453
|
|
|
NM_024334.3(TMEM43):c.929G>T (p.Gly310Val)
|
rs2124995252
|
|
|
NM_024334.3(TMEM43):c.931C>T (p.Leu311=)
|
|
|
|
NM_024334.3(TMEM43):c.946T>A (p.Trp316Arg)
|
|
|
|
NM_024334.3(TMEM43):c.964G>A (p.Gly322Ser)
|
rs1231932407
|
|
|
NM_024334.3(TMEM43):c.970A>G (p.Asn324Asp)
|
rs1365389365
|
|
|
NM_024334.3(TMEM43):c.982C>A (p.Arg328=)
|
rs561883271
|
|
|
NM_024334.3(TMEM43):c.984G>A (p.Arg328=)
|
rs2124995381
|
|
|
NM_024334.3(TMEM43):c.994A>G (p.Thr332Ala)
|
rs2124995399
|
|
|
NM_024334.3(TMEM43):c.995C>A (p.Thr332Asn)
|
rs1695218764
|
|
|
NM_024334.3(TMEM43):c.995C>T (p.Thr332Ile)
|
rs1695218764
|
|
|
NM_024334.3(TMEM43):c.99G>C (p.Ser33=)
|
rs147710692
|
|
|
NM_024422.6(DSC2):c.*3G>T
|
rs1239137048
|
|
|
NM_024422.6(DSC2):c.-4C>T
|
|
|
|
NM_024422.6(DSC2):c.-6C>T
|
rs1987979751
|
|
|
NM_024422.6(DSC2):c.1037A>T (p.Asp346Val)
|
rs1567978310
|
|
|
NM_024422.6(DSC2):c.1040A>G (p.Asp347Gly)
|
rs2144821231
|
|
|
NM_024422.6(DSC2):c.1041T>C (p.Asp347=)
|
rs758394251
|
|
|
NM_024422.6(DSC2):c.1057C>G (p.Pro353Ala)
|
rs999869714
|
|
|
NM_024422.6(DSC2):c.1077+2T>G
|
rs397517389
|
|
|
NM_024422.6(DSC2):c.1084A>T (p.Thr362Ser)
|
rs1428685920
|
|
|
NM_024422.6(DSC2):c.1104A>T (p.Thr368=)
|
rs765717538
|
|
|
NM_024422.6(DSC2):c.1111G>T (p.Val371Leu)
|
rs1252791235
|
|
|
NM_024422.6(DSC2):c.1112T>C (p.Val371Ala)
|
rs772863598
|
|
|
NM_024422.6(DSC2):c.1122_1123insAA (p.Arg375fs)
|
rs2144819390
|
|
|
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly)
|
rs794728075
|
|
|
NM_024422.6(DSC2):c.1134T>C (p.Val378=)
|
rs921023156
|
|
|
NM_024422.6(DSC2):c.1140T>C (p.Asp380=)
|
rs1252165791
|
|
|
NM_024422.6(DSC2):c.1157C>G (p.Thr386Ser)
|
rs1567977932
|
|
|
NM_024422.6(DSC2):c.1179T>C (p.Tyr393=)
|
rs2144819196
|
|
|
NM_024422.6(DSC2):c.118C>A (p.Pro40Thr)
|
|
|
|
NM_024422.6(DSC2):c.1206C>T (p.Gly402=)
|
rs749170272
|
|
|
NM_024422.6(DSC2):c.1210T>G (p.Phe404Val)
|
rs1987247302
|
|
|
NM_024422.6(DSC2):c.1213A>T (p.Lys405Ter)
|
rs1023394201
|
|
|
NM_024422.6(DSC2):c.1215A>T (p.Lys405Asn)
|
rs781472939
|
|
|
NM_024422.6(DSC2):c.121T>C (p.Ser41Pro)
|
rs2144850316
|
|
|
NM_024422.6(DSC2):c.122C>T (p.Ser41Phe)
|
|
|
|
NM_024422.6(DSC2):c.1232A>G (p.Lys411Arg)
|
rs1567977831
|
|
|
NM_024422.6(DSC2):c.1239T>A (p.Asn413Lys)
|
rs765511398
|
|
|
NM_024422.6(DSC2):c.1263+5G>A
|
rs1329734211
|
|
|
NM_024422.6(DSC2):c.1264-9C>T
|
rs1987178219
|
|
|
NM_024422.6(DSC2):c.1276G>A (p.Glu426Lys)
|
rs794728076
|
|
|
NM_024422.6(DSC2):c.1284G>A (p.Lys428=)
|
rs1987176408
|
|
|
NM_024422.6(DSC2):c.1292T>C (p.Met431Thr)
|
rs766923814
|
|
|
NM_024422.6(DSC2):c.129A>G (p.Leu43=)
|
rs1987671247
|
|
|
NM_024422.6(DSC2):c.12C>A (p.Ala4=)
|
rs1555641335
|
|
|
NM_024422.6(DSC2):c.1307G>A (p.Gly436Asp)
|
rs763981974
|
|
|
NM_024422.6(DSC2):c.1307G>C (p.Gly436Ala)
|
rs763981974
|
|
|
NM_024422.6(DSC2):c.1308T>G (p.Gly436=)
|
rs762786487
|
|
|
NM_024422.6(DSC2):c.1322C>T (p.Ala441Val)
|
rs1987173725
|
|
|
NM_024422.6(DSC2):c.1323T>C (p.Ala441=)
|
rs745795354
|
|
|
NM_024422.6(DSC2):c.1339G>A (p.Ala447Thr)
|
rs2144814116
|
|
|
NM_024422.6(DSC2):c.1343G>A (p.Ser448Asn)
|
rs778959850
|
|
|
NM_024422.6(DSC2):c.1350A>C (p.Arg450Ser)
|
rs144242114
|
|
|
NM_024422.6(DSC2):c.1350A>G (p.Arg450=)
|
rs144242114
|
|
|
NM_024422.6(DSC2):c.1352C>G (p.Ser451Ter)
|
rs794728068
|
|
|
NM_024422.6(DSC2):c.1396G>C (p.Asp466His)
|
|
|
|
NM_024422.6(DSC2):c.13C>G (p.Arg5Gly)
|
rs1987978697
|
|
|
NM_024422.6(DSC2):c.1412G>A (p.Cys471Tyr)
|
rs1314641804
|
|
|
NM_024422.6(DSC2):c.1417C>T (p.Pro473Ser)
|
rs865914095
|
|
|
NM_024422.6(DSC2):c.1418C>T (p.Pro473Leu)
|
rs1987166340
|
|
|
NM_024422.6(DSC2):c.142C>T (p.Leu48Phe)
|
rs769776739
|
|
|
NM_024422.6(DSC2):c.1436G>T (p.Arg479Leu)
|
rs774641579
|
|
|
NM_024422.6(DSC2):c.1444G>A (p.Glu482Lys)
|
rs1987164342
|
|
|
NM_024422.6(DSC2):c.1448A>T (p.Asn483Ile)
|
rs1987164076
|
|
|
NM_024422.6(DSC2):c.1462A>G (p.Thr488Ala)
|
rs1987163518
|
|
|
NM_024422.6(DSC2):c.1465A>G (p.Thr489Ala)
|
rs1987163251
|
|
|
NM_024422.6(DSC2):c.1468A>G (p.Ser490Gly)
|
rs2144813452
|
|
|
NM_024422.6(DSC2):c.1472A>G (p.Asn491Ser)
|
rs770114301
|
|
|
NM_024422.6(DSC2):c.1478A>G (p.Tyr493Cys)
|
rs1987162049
|
|
|
NM_024422.6(DSC2):c.1485A>G (p.Ala495=)
|
rs1987161925
|
|
|
NM_024422.6(DSC2):c.1490A>T (p.Asp497Val)
|
rs2144813366
|
|
|
NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly)
|
rs750965801
|
|
|
NM_024422.6(DSC2):c.1514G>A (p.Gly505Asp)
|
rs1987160435
|
|
|
NM_024422.6(DSC2):c.1520G>A (p.Arg507Lys)
|
rs2144813287
|
|
|
NM_024422.6(DSC2):c.1521-11A>G
|
|
|
|
NM_024422.6(DSC2):c.1521-13T>A
|
rs794728069
|
|
|
NM_024422.6(DSC2):c.1536T>A (p.Thr512=)
|
rs2144813027
|
|
|
NM_024422.6(DSC2):c.1543A>G (p.Thr515Ala)
|
rs771406828
|
|
|
NM_024422.6(DSC2):c.155-1G>A
|
rs1987629887
|
|
|
NM_024422.6(DSC2):c.1552G>T (p.Val518Phe)
|
|
|
|
NM_024422.6(DSC2):c.1555A>G (p.Thr519Ala)
|
rs1987153246
|
|
|
NM_024422.6(DSC2):c.1556C>T (p.Thr519Ile)
|
rs1987153056
|
|
|
NM_024422.6(DSC2):c.1557C>T (p.Thr519=)
|
rs778658088
|
|
|
NM_024422.6(DSC2):c.155T>C (p.Val52Ala)
|
rs1987629779
|
|
|
NM_024422.6(DSC2):c.1564G>A (p.Glu522Lys)
|
|
|
|
NM_024422.6(DSC2):c.1588T>C (p.Phe530Leu)
|
rs939273596
|
|
|
NM_024422.6(DSC2):c.1593A>C (p.Arg531Ser)
|
rs762973455
|
|
|
NM_024422.6(DSC2):c.1594A>G (p.Ser532Gly)
|
rs2144812707
|
|
|
NM_024422.6(DSC2):c.1620C>G (p.Ile540Met)
|
rs765374888
|
|
|
NM_024422.6(DSC2):c.1635T>C (p.Tyr545=)
|
|
|
|
NM_024422.6(DSC2):c.1651G>A (p.Ala551Thr)
|
rs1987146258
|
|
|
NM_024422.6(DSC2):c.1653A>G (p.Ala551=)
|
rs1021990449
|
|
|
NM_024422.6(DSC2):c.1664-1G>C
|
rs776877367
|
|
|
NM_024422.6(DSC2):c.1664G>A (p.Gly555Glu)
|
rs766681408
|
|
|
NM_024422.6(DSC2):c.1673C>T (p.Thr558Ile)
|
rs1277586365
|
|
|
NM_024422.6(DSC2):c.1681G>C (p.Gly561Arg)
|
rs2144800482
|
|
|
NM_024422.6(DSC2):c.1686A>C (p.Thr562=)
|
rs1986964013
|
|
|
NM_024422.6(DSC2):c.1689G>A (p.Leu563=)
|
rs1986963745
|
|
|
NM_024422.6(DSC2):c.1706A>T (p.Asp569Val)
|
|
|
|
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu)
|
rs201517977
|
|
|
NM_024422.6(DSC2):c.1707C>T (p.Asp569=)
|
rs201517977
|
|
|
NM_024422.6(DSC2):c.1708G>A (p.Val570Met)
|
rs992887444
|
|
|
NM_024422.6(DSC2):c.1708G>C (p.Val570Leu)
|
rs992887444
|
|
|
NM_024422.6(DSC2):c.1711A>T (p.Asn571Tyr)
|
rs2144800393
|
|
|
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp)
|
rs1057518818
|
|
|
NM_024422.6(DSC2):c.172T>C (p.Phe58Leu)
|
rs138749562
|
|
|
NM_024422.6(DSC2):c.1735A>G (p.Lys579Glu)
|
rs1358638028
|
|
|
NM_024422.6(DSC2):c.1750A>G (p.Ile584Val)
|
rs755041461
|
|
|
NM_024422.6(DSC2):c.1763C>T (p.Thr588Ile)
|
rs1674674418
|
|
|
NM_024422.6(DSC2):c.1766T>A (p.Met589Lys)
|
rs201856473
|
|
|
NM_024422.6(DSC2):c.1767G>A (p.Met589Ile)
|
rs2144800002
|
|
|
NM_024422.6(DSC2):c.1782T>G (p.Ile594Met)
|
|
|
|
NM_024422.6(DSC2):c.1786G>A (p.Ala596Thr)
|
rs1438904893
|
|
|
NM_024422.6(DSC2):c.1810C>A (p.His604Asn)
|
rs2144799743
|
|
|
NM_024422.6(DSC2):c.1815C>T (p.Gly605=)
|
rs770678394
|
|
|
NM_024422.6(DSC2):c.182C>A (p.Ala61Glu)
|
rs758707293
|
|
|
NM_024422.6(DSC2):c.1840A>G (p.Ser614Gly)
|
rs1986952876
|
|
|
NM_024422.6(DSC2):c.1848T>C (p.Thr616=)
|
rs1986952024
|
|
|
NM_024422.6(DSC2):c.1857A>G (p.Val619=)
|
rs1986951653
|
|
|
NM_024422.6(DSC2):c.1866G>A (p.Met622Ile)
|
rs2144799406
|
|
|
NM_024422.6(DSC2):c.187C>T (p.Leu63=)
|
rs1987628241
|
|
|
NM_024422.6(DSC2):c.1888+1G>C
|
rs1986950096
|
|
|
NM_024422.6(DSC2):c.1892C>T (p.Thr631Ile)
|
|
|
|
NM_024422.6(DSC2):c.1898C>T (p.Ala633Val)
|
rs1986847217
|
|
|
NM_024422.6(DSC2):c.1900C>T (p.Arg634Cys)
|
rs1443409965
|
|
|
NM_024422.6(DSC2):c.1907C>G (p.Ser636Cys)
|
rs764355417
|
|
|
NM_024422.6(DSC2):c.1918G>A (p.Asp640Asn)
|
rs267605146
|
|
|
NM_024422.6(DSC2):c.1939del (p.Tyr646_Val647insTer)
|
rs1986844120
|
|
|
NM_024422.6(DSC2):c.1946C>T (p.Pro649Leu)
|
rs765948147
|
|
|
NM_024422.6(DSC2):c.1953A>G (p.Thr651=)
|
|
|
|
NM_024422.6(DSC2):c.1960G>C (p.Asp654His)
|
rs1315556709
|
|
|
NM_024422.6(DSC2):c.1960_1961del (p.Arg653_Asp654insTer)
|
rs2144791474
|
|
|
NM_024422.6(DSC2):c.1966C>T (p.Leu656Phe)
|
rs2144791442
|
|
|
NM_024422.6(DSC2):c.1972A>G (p.Met658Val)
|
rs1986842279
|
|
|
NM_024422.6(DSC2):c.1978del (p.Ser660fs)
|
rs1986841708
|
|
|
NM_024422.6(DSC2):c.1980T>C (p.Ser660=)
|
rs1986841255
|
|
|
NM_024422.6(DSC2):c.1984A>G (p.Thr662Ala)
|
rs1986840957
|
|
|
NM_024422.6(DSC2):c.1985del (p.Thr662fs)
|
|
|
|
NM_024422.6(DSC2):c.1987T>G (p.Ser663Ala)
|
|
|
|
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly)
|
rs778236763
|
|
|
NM_024422.6(DSC2):c.1A>G (p.Met1Val)
|
rs1026402319
|
|
|
NM_024422.6(DSC2):c.2003T>C (p.Leu668Pro)
|
rs1432852100
|
|
|
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val)
|
rs375842356
|
|
|
NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile)
|
rs794728062
|
|
|
NM_024422.6(DSC2):c.2035C>T (p.His679Tyr)
|
rs1567973075
|
|
|
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser)
|
rs757253682
|
|
|
NM_024422.6(DSC2):c.2038C>T (p.Arg680Cys)
|
rs757253682
|
|
|
NM_024422.6(DSC2):c.2039G>A (p.Arg680His)
|
rs374002111
|
|
|
NM_024422.6(DSC2):c.2046T>A (p.Asp682Glu)
|
rs1161794192
|
|
|
NM_024422.6(DSC2):c.2058C>T (p.Gly686=)
|
rs1177700048
|
|
|
NM_024422.6(DSC2):c.205C>T (p.Pro69Ser)
|
rs1987627721
|
|
|
NM_024422.6(DSC2):c.207T>C (p.Pro69=)
|
rs2144846907
|
|
|
NM_024422.6(DSC2):c.2096C>T (p.Ala699Val)
|
rs2144790608
|
|
|
NM_024422.6(DSC2):c.2116T>C (p.Leu706=)
|
rs1986829654
|
|
|
NM_024422.6(DSC2):c.2119C>G (p.Leu707Val)
|
rs1986829406
|
|
|
NM_024422.6(DSC2):c.211T>G (p.Phe71Val)
|
|
|
|
NM_024422.6(DSC2):c.2125+5G>T
|
rs1986828460
|
|
|
NM_024422.6(DSC2):c.2126-15dup
|
|
|
|
NM_024422.6(DSC2):c.2126G>C (p.Cys709Ser)
|
rs145831682
|
|
|
NM_024422.6(DSC2):c.2131C>T (p.Leu711=)
|
rs1214149293
|
|
|
NM_024422.6(DSC2):c.2152G>T (p.Ala718Ser)
|
|
|
|
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys)
|
rs759513934
|
|
|
NM_024422.6(DSC2):c.2162del (p.Thr721fs)
|
rs1986800713
|
|
|
NM_024422.6(DSC2):c.216A>G (p.Gln72=)
|
rs767293228
|
|
|
NM_024422.6(DSC2):c.217A>G (p.Ile73Val)
|
|
|
|
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr)
|
rs1422818892
|
|
|
NM_024422.6(DSC2):c.2218T>C (p.Ser740Pro)
|
rs1555637438
|
|
|
NM_024422.6(DSC2):c.2229A>C (p.Glu743Asp)
|
rs1380094242
|
|
|
NM_024422.6(DSC2):c.2250+1G>A
|
rs1986794200
|
|
|
NM_024422.6(DSC2):c.2251-13G>A
|
rs1057523492
|
|
|
NM_024422.6(DSC2):c.2254T>C (p.Ser752Pro)
|
rs1986742221
|
|
|
NM_024422.6(DSC2):c.2267T>C (p.Phe756Ser)
|
rs1986741020
|
|
|
NM_024422.6(DSC2):c.2286C>T (p.Gly762=)
|
rs549251334
|
|
|
NM_024422.6(DSC2):c.2288C>T (p.Ala763Val)
|
rs1986739683
|
|
|
NM_024422.6(DSC2):c.230G>A (p.Gly77Asp)
|
rs761544006
|
|
|
NM_024422.6(DSC2):c.230G>T (p.Gly77Val)
|
rs761544006
|
|
|
NM_024422.6(DSC2):c.2312C>A (p.Thr771Asn)
|
rs2144784219
|
|
|
NM_024422.6(DSC2):c.2312C>T (p.Thr771Ile)
|
|
|
|
NM_024422.6(DSC2):c.2318G>T (p.Gly773Val)
|
rs749174176
|
|
|
NM_024422.6(DSC2):c.231T>G (p.Gly77=)
|
rs1035463823
|
|
|
NM_024422.6(DSC2):c.2344G>A (p.Glu782Lys)
|
rs866805043
|
|
|
NM_024422.6(DSC2):c.2352C>T (p.Ile784=)
|
rs562571453
|
|
|
NM_024422.6(DSC2):c.2359G>A (p.Val787Met)
|
rs1789053
|
|
|
NM_024422.6(DSC2):c.2363A>C (p.Lys788Thr)
|
rs1430547540
|
|
|
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)
|
rs377272752
|
|
|
NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu)
|
rs1555637241
|
|
|
NM_024422.6(DSC2):c.2371C>A (p.His791Asn)
|
rs1789052
|
|
|
NM_024422.6(DSC2):c.2374C>T (p.Gln792Ter)
|
rs1364738194
|
|
|
NM_024422.6(DSC2):c.2384A>T (p.Glu795Val)
|
rs1303375887
|
|
|
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln)
|
rs61731921
|
|
|
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu)
|
rs61731921
|
|
|
NM_024422.6(DSC2):c.2394G>A (p.Arg798=)
|
rs1986729754
|
|
|
NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser)
|
rs565136635
|
|
|
NM_024422.6(DSC2):c.2402G>A (p.Gly801Asp)
|
rs1215462499
|
|
|
NM_024422.6(DSC2):c.2436A>G (p.Gly812=)
|
rs754081349
|
|
|
NM_024422.6(DSC2):c.2438A>C (p.His813Pro)
|
rs766881629
|
|
|
NM_024422.6(DSC2):c.2442G>C (p.Thr814=)
|
rs750971227
|
|
|
NM_024422.6(DSC2):c.245C>A (p.Thr82Lys)
|
|
|
|
NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter)
|
rs1567971476
|
|
|
NM_024422.6(DSC2):c.2467dup (p.Tyr823fs)
|
|
|
|
NM_024422.6(DSC2):c.246A>C (p.Thr82=)
|
rs1987625549
|
|
|
NM_024422.6(DSC2):c.246A>G (p.Thr82=)
|
|
|
|
NM_024422.6(DSC2):c.24C>T (p.Gly8=)
|
rs1987977472
|
|
|
NM_024422.6(DSC2):c.2509-108A>T
|
rs1259933141
|
|
|
NM_024422.6(DSC2):c.2509-11C>T
|
|
|
|
NM_024422.6(DSC2):c.2509-120G>A
|
rs1986700818
|
|
|
NM_024422.6(DSC2):c.2518C>T (p.Leu840=)
|
rs1986695260
|
|
|
NM_024422.6(DSC2):c.2530G>C (p.Asp844His)
|
rs2144781408
|
|
|
NM_024422.6(DSC2):c.2532T>C (p.Asp844=)
|
rs2144781397
|
|
|
NM_024422.6(DSC2):c.253A>G (p.Ile85Val)
|
rs1567982899
|
|
|
NM_024422.6(DSC2):c.2541C>T (p.His847=)
|
rs1598569474
|
|
|
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs)
|
rs794728077
|
|
|
NM_024422.6(DSC2):c.2553del (p.Asp852fs)
|
rs1374904618
|
|
|
NM_024422.6(DSC2):c.2568A>G (p.Thr856=)
|
rs1986693059
|
|
|
NM_024422.6(DSC2):c.2569T>C (p.Tyr857His)
|
rs747396159
|
|
|
NM_024422.6(DSC2):c.2570A>G (p.Tyr857Cys)
|
rs1986692806
|
|
|
NM_024422.6(DSC2):c.2574C>T (p.Asn858=)
|
rs1986692325
|
|
|
NM_024422.6(DSC2):c.2577T>A (p.Tyr859Ter)
|
rs767866098
|
|
|
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs)
|
rs780970079
|
|
|
NM_024422.6(DSC2):c.2583_2587dup (p.Gly863fs)
|
rs1986691422
|
|
|
NM_024422.6(DSC2):c.2589A>G (p.Gly863=)
|
rs1986690891
|
|
|
NM_024422.6(DSC2):c.2593G>A (p.Val865Met)
|
|
|
|
NM_024422.6(DSC2):c.2597C>T (p.Ala866Val)
|
rs760363798
|
|
|
NM_024422.6(DSC2):c.2608G>T (p.Gly870Cys)
|
rs1986689119
|
|
|
NM_024422.6(DSC2):c.2620G>A (p.Glu874Lys)
|
rs1395671324
|
|
|
NM_024422.6(DSC2):c.2621A>G (p.Glu874Gly)
|
rs1986688160
|
|
|
NM_024422.6(DSC2):c.2627A>G (p.Gln876Arg)
|
|
|
|
NM_024422.6(DSC2):c.2628AGA[2] (p.Glu878del)
|
rs756886183
|
|
|
NM_024422.6(DSC2):c.2631A>G (p.Glu877=)
|
|
|
|
NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg)
|
rs1986686862
|
|
|
NM_024422.6(DSC2):c.2644G>A (p.Glu882Lys)
|
rs1352394486
|
|
|
NM_024422.6(DSC2):c.2646A>G (p.Glu882=)
|
rs773604134
|
|
|
NM_024422.6(DSC2):c.2669A>G (p.Lys890Arg)
|
rs2144780681
|
|
|
NM_024422.6(DSC2):c.2684C>G (p.Ala895Gly)
|
rs1986685195
|
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
|
NM_024422.6(DSC2):c.2705G>A (p.Ter902=)
|
|
|
|
NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu)
|
rs1986683368
|
|
|
NM_024422.6(DSC2):c.28T>C (p.Trp10Arg)
|
rs1987977039
|
|
|
NM_024422.6(DSC2):c.301A>G (p.Thr101Ala)
|
rs1372970572
|
|
|
NM_024422.6(DSC2):c.306G>C (p.Glu102Asp)
|
|
|
|
NM_024422.6(DSC2):c.30G>T (p.Trp10Cys)
|
rs1555641322
|
|
|
NM_024422.6(DSC2):c.32_34delinsGCA (p.Asn11_Gly12delinsSerArg)
|
rs1987976516
|
|
|
NM_024422.6(DSC2):c.331G>C (p.Val111Leu)
|
rs1987620497
|
|
|
NM_024422.6(DSC2):c.338del (p.Leu113fs)
|
|
|
|
NM_024422.6(DSC2):c.342G>A (p.Glu114=)
|
rs1598591230
|
|
|
NM_024422.6(DSC2):c.34G>C (p.Gly12Arg)
|
rs568391206
|
|
|
NM_024422.6(DSC2):c.355-9T>C
|
rs925436741
|
|
|
NM_024422.6(DSC2):c.357C>T (p.Val119=)
|
rs1452043194
|
|
|
NM_024422.6(DSC2):c.367A>G (p.Arg123Gly)
|
rs1987583524
|
|
|
NM_024422.6(DSC2):c.367del (p.Arg123fs)
|
rs2144843571
|
|
|
NM_024422.6(DSC2):c.370C>T (p.His124Tyr)
|
rs371443698
|
|
|
NM_024422.6(DSC2):c.371A>G (p.His124Arg)
|
rs794728061
|
|
|
NM_024422.6(DSC2):c.374C>A (p.Thr125Asn)
|
rs1987582538
|
|
|
NM_024422.6(DSC2):c.393G>T (p.Arg131Ser)
|
rs987038341
|
|
|
NM_024422.6(DSC2):c.412G>T (p.Ala138Ser)
|
rs1405349273
|
|
|
NM_024422.6(DSC2):c.425G>A (p.Cys142Tyr)
|
rs1478081073
|
|
|
NM_024422.6(DSC2):c.428C>T (p.Ser143Leu)
|
rs769576778
|
|
|
NM_024422.6(DSC2):c.449G>A (p.Gly150Asp)
|
rs1480345392
|
|
|
NM_024422.6(DSC2):c.46C>T (p.Arg16Trp)
|
rs1987975647
|
|
|
NM_024422.6(DSC2):c.474+4C>A
|
rs1567982295
|
|
|
NM_024422.6(DSC2):c.475-13A>G
|
rs751631188
|
|
|
NM_024422.6(DSC2):c.475-3T>C
|
rs1987524919
|
|
|
NM_024422.6(DSC2):c.489G>T (p.Thr163=)
|
rs752952811
|
|
|
NM_024422.6(DSC2):c.495A>G (p.Gln165=)
|
|
|
|
NM_024422.6(DSC2):c.500A>C (p.Tyr167Ser)
|
rs1987523408
|
|
|
NM_024422.6(DSC2):c.517A>G (p.Ile173Val)
|
rs766855728
|
|
|
NM_024422.6(DSC2):c.525T>C (p.Gly175=)
|
rs541223771
|
|
|
NM_024422.6(DSC2):c.534T>G (p.Val178=)
|
rs1567981655
|
|
|
NM_024422.6(DSC2):c.548G>A (p.Arg183Gln)
|
rs554713834
|
|
|
NM_024422.6(DSC2):c.54C>A (p.Leu18=)
|
|
|
|
NM_024422.6(DSC2):c.562G>A (p.Val188Met)
|
|
|
|
NM_024422.6(DSC2):c.565G>A (p.Glu189Lys)
|
rs267605148
|
|
|
NM_024422.6(DSC2):c.577_624del (p.Gly193_Ser208del)
|
rs767081975
|
|
|
NM_024422.6(DSC2):c.579A>C (p.Gly193=)
|
rs1241203694
|
|
|
NM_024422.6(DSC2):c.585G>C (p.Leu195Phe)
|
rs912124448
|
|
|
NM_024422.6(DSC2):c.631-1G>A
|
|
|
|
NM_024422.6(DSC2):c.647C>T (p.Thr216Ile)
|
rs780448272
|
|
|
NM_024422.6(DSC2):c.660G>A (p.Gly220=)
|
rs1987454499
|
|
|
NM_024422.6(DSC2):c.660G>T (p.Gly220=)
|
|
|
|
NM_024422.6(DSC2):c.664A>G (p.Thr222Ala)
|
rs751014965
|
|
|
NM_024422.6(DSC2):c.665C>T (p.Thr222Ile)
|
rs1987453864
|
|
|
NM_024422.6(DSC2):c.667C>T (p.Pro223Ser)
|
rs762722282
|
|
|
NM_024422.6(DSC2):c.676C>T (p.Pro226Ser)
|
rs1987453023
|
|
|
NM_024422.6(DSC2):c.678A>C (p.Pro226=)
|
rs1987452768
|
|
|
NM_024422.6(DSC2):c.679C>T (p.Leu227=)
|
|
|
|
NM_024422.6(DSC2):c.69+2T>C
|
rs1987974114
|
|
|
NM_024422.6(DSC2):c.696A>G (p.Lys232=)
|
|
|
|
NM_024422.6(DSC2):c.69G>A (p.Ala23=)
|
rs1987974228
|
|
|
NM_024422.6(DSC2):c.69G>T (p.Ala23=)
|
|
|
|
NM_024422.6(DSC2):c.70-11del
|
rs572309510
|
|
|
NM_024422.6(DSC2):c.70-18dup
|
rs572309510
|
|
|
NM_024422.6(DSC2):c.70-8T>C
|
|
|
|
NM_024422.6(DSC2):c.70-8dup
|
rs1048960125
|
|
|
NM_024422.6(DSC2):c.702G>A (p.Glu234=)
|
rs397517402
|
|
|
NM_024422.6(DSC2):c.715_728dup (p.Phe243fs)
|
rs759922677
|
|
|
NM_024422.6(DSC2):c.71T>A (p.Ile24Asn)
|
rs2144850570
|
|
|
NM_024422.6(DSC2):c.72C>A (p.Ile24=)
|
rs757826575
|
|
|
NM_024422.6(DSC2):c.734A>G (p.Glu245Gly)
|
rs373201722
|
|
|
NM_024422.6(DSC2):c.737A>G (p.Glu246Gly)
|
rs1057524741
|
|
|
NM_024422.6(DSC2):c.744_746delinsCAA (p.Thr249Asn)
|
rs1987447561
|
|
|
NM_024422.6(DSC2):c.752C>A (p.Thr251Lys)
|
rs1987446781
|
|
|
NM_024422.6(DSC2):c.753A>G (p.Thr251=)
|
rs1987446637
|
|
|
NM_024422.6(DSC2):c.754A>G (p.Ile252Val)
|
rs751996698
|
|
|
NM_024422.6(DSC2):c.76A>T (p.Ile26Leu)
|
|
|
|
NM_024422.6(DSC2):c.776-13dup
|
rs1987414584
|
|
|
NM_024422.6(DSC2):c.776-3T>C
|
rs752192642
|
|
|
NM_024422.6(DSC2):c.778A>G (p.Thr260Ala)
|
rs2144830965
|
|
|
NM_024422.6(DSC2):c.797G>A (p.Cys266Tyr)
|
rs1987413579
|
|
|
NM_024422.6(DSC2):c.799G>C (p.Ala267Pro)
|
rs966660258
|
|
|
NM_024422.6(DSC2):c.802A>C (p.Thr268Pro)
|
rs201015785
|
|
|
NM_024422.6(DSC2):c.824C>A (p.Thr275Lys)
|
rs397517404
|
|
|
NM_024422.6(DSC2):c.836G>T (p.Arg279Leu)
|
|
|
|
NM_024422.6(DSC2):c.860A>G (p.Gln287Arg)
|
rs748657811
|
|
|
NM_024422.6(DSC2):c.869C>A (p.Pro290Gln)
|
rs753579789
|
|
|
NM_024422.6(DSC2):c.873A>C (p.Ser291=)
|
rs750118589
|
|
|
NM_024422.6(DSC2):c.875C>A (p.Pro292His)
|
|
|
|
NM_024422.6(DSC2):c.879C>T (p.Thr293=)
|
rs1394417853
|
|
|
NM_024422.6(DSC2):c.88G>A (p.Asp30Asn)
|
rs1987673824
|
|
|
NM_024422.6(DSC2):c.895C>T (p.Pro299Ser)
|
rs1987406167
|
|
|
NM_024422.6(DSC2):c.902C>T (p.Thr301Ile)
|
rs1213134766
|
|
|
NM_024422.6(DSC2):c.906C>T (p.Gly302=)
|
rs776857618
|
|
|
NM_024422.6(DSC2):c.942+3A>G
|
|
|
|
NM_024422.6(DSC2):c.942+4A>T
|
rs2144830120
|
|
|
NM_024422.6(DSC2):c.942+6A>G
|
|
|
|
NM_024422.6(DSC2):c.942G>A (p.Glu314=)
|
|
|
|
NM_024422.6(DSC2):c.943-13T>G
|
rs1987284105
|
|
|
NM_024422.6(DSC2):c.946A>T (p.Ile316Phe)
|
rs1233598092
|
|
|
NM_024422.6(DSC2):c.948T>C (p.Ile316=)
|
rs2144821655
|
|
|
NM_024422.6(DSC2):c.951_952delinsTT (p.Lys318Ter)
|
|
|
|
NM_024422.6(DSC2):c.959del (p.Gln320fs)
|
rs1987282253
|
|
|
NM_024422.6(DSC2):c.985G>A (p.Asp329Asn)
|
rs1987280682
|
|
|
NM_170707.4(LMNA):c.*5G>A
|
rs1651907818
|
|
|
NM_170707.4(LMNA):c.-14C>T
|
|
|
|
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)
|
rs1237093879
|
|
|
NM_170707.4(LMNA):c.1014G>A (p.Leu338=)
|
rs1651556660
|
|
|
NM_170707.4(LMNA):c.1027C>A (p.Arg343=)
|
rs749784223
|
|
|
NM_170707.4(LMNA):c.1052G>A (p.Arg351Lys)
|
|
|
|
NM_170707.4(LMNA):c.1077C>T (p.Tyr359=)
|
rs1651568187
|
|
|
NM_170707.4(LMNA):c.1083G>A (p.Glu361=)
|
rs1651569117
|
|
|
NM_170707.4(LMNA):c.109G>A (p.Glu37Lys)
|
rs1354642495
|
|
|
NM_170707.4(LMNA):c.1122C>T (p.His374=)
|
rs143715750
|
|
|
NM_170707.4(LMNA):c.1157+5G>T
|
|
|
|
NM_170707.4(LMNA):c.1158-14C>T
|
rs1651595760
|
|
|
NM_170707.4(LMNA):c.1158-5C>G
|
rs1328158335
|
|
|
NM_170707.4(LMNA):c.1173C>T (p.Pro391=)
|
rs1553265807
|
|
|
NM_170707.4(LMNA):c.1180A>T (p.Thr394Ser)
|
|
|
|
NM_170707.4(LMNA):c.1209C>G (p.Ser403=)
|
|
|
|
NM_170707.4(LMNA):c.1218A>G (p.Ser406=)
|
rs1651612863
|
|
|
NM_170707.4(LMNA):c.1230G>A (p.Gln410=)
|
rs1651615685
|
|
|
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp)
|
rs267607647
|
|
|
NM_170707.4(LMNA):c.1234G>A (p.Gly412Arg)
|
rs966050612
|
|
|
NM_170707.4(LMNA):c.1239C>A (p.Gly413=)
|
|
|
|
NM_170707.4(LMNA):c.1242C>T (p.Ser414=)
|
rs184946451
|
|
|
NM_170707.4(LMNA):c.1247C>A (p.Thr416Asn)
|
rs752367284
|
|
|
NM_170707.4(LMNA):c.1247C>T (p.Thr416Ile)
|
rs752367284
|
|
|
NM_170707.4(LMNA):c.1268C>G (p.Ser423Cys)
|
rs2102890409
|
|
|
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn)
|
rs1385994420
|
|
|
NM_170707.4(LMNA):c.1295A>G (p.Gln432Arg)
|
rs1651630330
|
|
|
NM_170707.4(LMNA):c.1312G>A (p.Gly438Arg)
|
rs766932100
|
|
|
NM_170707.4(LMNA):c.1316G>A (p.Arg439His)
|
|
|
|
NM_170707.4(LMNA):c.1317C>T (p.Arg439=)
|
rs374804871
|
|
|
NM_170707.4(LMNA):c.1323C>T (p.Ala441=)
|
rs140194535
|
|
|
NM_170707.4(LMNA):c.1327G>A (p.Glu443Lys)
|
rs1558132212
|
|
|
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)
|
rs505058
|
|
|
NM_170707.4(LMNA):c.1356C>A (p.Val452=)
|
rs1572364681
|
|
|
NM_170707.4(LMNA):c.1359G>A (p.Arg453=)
|
rs1321318572
|
|
|
NM_170707.4(LMNA):c.1380+3A>G
|
rs1487175603
|
|
|
NM_170707.4(LMNA):c.1407C>T (p.Ile469=)
|
rs1471045711
|
|
|
NM_170707.4(LMNA):c.1413C>G (p.Arg471=)
|
rs1572365626
|
|
|
NM_170707.4(LMNA):c.141C>A (p.Asp47Glu)
|
rs1649715628
|
|
|
NM_170707.4(LMNA):c.1422_1424dup (p.Gly474_Asp475insGlu)
|
rs267607579
|
|
|
NM_170707.4(LMNA):c.1451C>T (p.Pro484Leu)
|
rs2102894099
|
|
|
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala)
|
rs886042993
|
|
|
NM_170707.4(LMNA):c.1474G>A (p.Gly492Arg)
|
rs373480082
|
|
|
NM_170707.4(LMNA):c.1482G>A (p.Val494=)
|
rs768017760
|
|
|
NM_170707.4(LMNA):c.1485G>A (p.Val495=)
|
rs1651703234
|
|
|
NM_170707.4(LMNA):c.1489-8C>T
|
|
|
|
NM_170707.4(LMNA):c.1498G>T (p.Ala500Ser)
|
|
|
|
NM_170707.4(LMNA):c.1525C>T (p.Pro509Ser)
|
rs762847359
|
|
|
NM_170707.4(LMNA):c.1531G>A (p.Asp511Asn)
|
rs759408439
|
|
|
NM_170707.4(LMNA):c.1536G>A (p.Leu512=)
|
rs1208359364
|
|
|
NM_170707.4(LMNA):c.1539G>A (p.Val513=)
|
rs2102895431
|
|
|
NM_170707.4(LMNA):c.1546G>A (p.Ala516Thr)
|
rs1383314305
|
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
|
NM_170707.4(LMNA):c.1580G>T (p.Arg527Leu)
|
rs57520892
|
|
|
NM_170707.4(LMNA):c.1584G>C (p.Thr528=)
|
rs80356812
|
|
|
NM_170707.4(LMNA):c.1593C>A (p.Ile531=)
|
rs1651734080
|
|
|
NM_170707.4(LMNA):c.1599C>T (p.Ser533=)
|
rs886043346
|
|
|
NM_170707.4(LMNA):c.1602T>C (p.Thr534=)
|
rs781763410
|
|
|
NM_170707.4(LMNA):c.1609-4C>T
|
rs1553266259
|
|
|
NM_170707.4(LMNA):c.1609G>A (p.Glu537Lys)
|
|
|
|
NM_170707.4(LMNA):c.161C>T (p.Thr54Met)
|
rs879253992
|
|
|
NM_170707.4(LMNA):c.162G>A (p.Thr54=)
|
rs1649719337
|
|
|
NM_170707.4(LMNA):c.1639G>A (p.Val547Met)
|
rs201947393
|
|
|
NM_170707.4(LMNA):c.1642A>C (p.Thr548Pro)
|
rs1651784912
|
|
|
NM_170707.4(LMNA):c.1642A>G (p.Thr548Ala)
|
|
|
|
NM_170707.4(LMNA):c.1657G>C (p.Asp553His)
|
|
|
|
NM_170707.4(LMNA):c.1659C>T (p.Asp553=)
|
rs748768783
|
|
|
NM_170707.4(LMNA):c.165G>A (p.Glu55=)
|
rs1649720033
|
|
|
NM_170707.4(LMNA):c.1696C>G (p.His566Asp)
|
rs1195284382
|
|
|
NM_170707.4(LMNA):c.1698+1G>C
|
rs1553266337
|
|
|
NM_170707.4(LMNA):c.1698+26G>A
|
rs766567207
|
|
|
NM_170707.4(LMNA):c.1699-8C>T
|
rs727503137
|
|
|
NM_170707.4(LMNA):c.1699-9_1699-8del
|
rs1572369030
|
|
|
NM_170707.4(LMNA):c.1701C>A (p.Gly567=)
|
rs1174456476
|
|
|
NM_170707.4(LMNA):c.1722G>A (p.Gly574=)
|
|
|
|
NM_170707.4(LMNA):c.1737C>T (p.Tyr579=)
|
|
|
|
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)
|
rs57830985
|
|
|
NM_170707.4(LMNA):c.1747_1750dup (p.Arg584fs)
|
rs1651858164
|
|
|
NM_170707.4(LMNA):c.1749G>A (p.Ser583=)
|
rs970494454
|
|
|
NM_170707.4(LMNA):c.1752C>T (p.Arg584=)
|
|
|
|
NM_170707.4(LMNA):c.1785C>A (p.Ala595=)
|
rs748139390
|
|
|
NM_170707.4(LMNA):c.1788C>T (p.Asp596=)
|
|
|
|
NM_170707.4(LMNA):c.1801A>C (p.Ser601Arg)
|
|
|
|
NM_170707.4(LMNA):c.1812A>G (p.Gly604=)
|
rs775835223
|
|
|
NM_170707.4(LMNA):c.1817A>G (p.Gln606Arg)
|
rs1651866656
|
|
|
NM_170707.4(LMNA):c.1827A>G (p.Gly609=)
|
rs1558135172
|
|
|
NM_170707.4(LMNA):c.1830C>T (p.Pro610=)
|
rs1651868348
|
|
|
NM_170707.4(LMNA):c.1835C>T (p.Ser612Phe)
|
rs1651868666
|
|
|
NM_170707.4(LMNA):c.1837T>C (p.Ser613Pro)
|
rs147627124
|
|
|
NM_170707.4(LMNA):c.1853C>G (p.Ser618Cys)
|
|
|
|
NM_170707.4(LMNA):c.1858G>T (p.Val620Phe)
|
rs1187655257
|
|
|
NM_170707.4(LMNA):c.1873A>T (p.Ser625Cys)
|
rs398124550
|
|
|
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro)
|
rs1553266553
|
|
|
NM_170707.4(LMNA):c.1880G>C (p.Arg627Pro)
|
rs745997478
|
|
|
NM_170707.4(LMNA):c.1885G>T (p.Val629Leu)
|
|
|
|
NM_170707.4(LMNA):c.1890G>C (p.Gly630=)
|
rs770389147
|
|
|
NM_170707.4(LMNA):c.1901G>A (p.Gly634Asp)
|
rs1470825986
|
|
|
NM_170707.4(LMNA):c.1911C>A (p.Phe637Leu)
|
rs117939448
|
|
|
NM_170707.4(LMNA):c.1916A>G (p.Asp639Gly)
|
rs1572369800
|
|
|
NM_170707.4(LMNA):c.1922T>G (p.Leu641Arg)
|
rs1651878365
|
|
|
NM_170707.4(LMNA):c.1932C>T (p.Arg644=)
|
rs1651879813
|
|
|
NM_170707.4(LMNA):c.1934C>T (p.Ser645Phe)
|
rs2102902562
|
|
|
NM_170707.4(LMNA):c.1941C>T (p.Leu647=)
|
rs984562109
|
|
|
NM_170707.4(LMNA):c.1943T>G (p.Leu648Arg)
|
rs1651880438
|
|
|
NM_170707.4(LMNA):c.1947C>A (p.Gly649=)
|
rs3209857
|
|
|
NM_170707.4(LMNA):c.1949A>G (p.Asn650Ser)
|
rs775728847
|
|
|
NM_170707.4(LMNA):c.1968+3G>A
|
rs1250284097
|
|
|
NM_170707.4(LMNA):c.1969-11T>G
|
rs1651904179
|
|
|
NM_170707.4(LMNA):c.1969-1G>T
|
rs1060499873
|
|
|
NM_170707.4(LMNA):c.202G>A (p.Glu68Lys)
|
rs1260675493
|
|
|
NM_170707.4(LMNA):c.206T>C (p.Val69Ala)
|
rs1649725893
|
|
|
NM_170707.4(LMNA):c.207G>A (p.Val69=)
|
|
|
|
NM_170707.4(LMNA):c.226G>A (p.Gly76Ser)
|
rs745651340
|
|
|
NM_170707.4(LMNA):c.237C>T (p.Ala79=)
|
rs1649729607
|
|
|
NM_170707.4(LMNA):c.249C>T (p.Ala83=)
|
rs746916710
|
|
|
NM_170707.4(LMNA):c.24C>A (p.Arg8=)
|
rs1337375663
|
|
|
NM_170707.4(LMNA):c.25G>A (p.Ala9Thr)
|
|
|
|
NM_170707.4(LMNA):c.273C>T (p.Thr91=)
|
rs1649734316
|
|
|
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser)
|
rs1553262000
|
|
|
NM_170707.4(LMNA):c.300C>G (p.Ala100=)
|
rs1202591253
|
|
|
NM_170707.4(LMNA):c.302G>A (p.Arg101His)
|
rs267607568
|
|
|
NM_170707.4(LMNA):c.334G>A (p.Glu112Lys)
|
rs1553262031
|
|
|
NM_170707.4(LMNA):c.336G>A (p.Glu112=)
|
|
|
|
NM_170707.4(LMNA):c.346C>T (p.Leu116=)
|
rs876657491
|
|
|
NM_170707.4(LMNA):c.355C>T (p.Arg119Cys)
|
rs17856971
|
|
|
NM_170707.4(LMNA):c.357-15C>T
|
|
|
|
NM_170707.4(LMNA):c.373G>A (p.Gly125Ser)
|
rs267607605
|
|
|
NM_170707.4(LMNA):c.375T>C (p.Gly125=)
|
rs1164862537
|
|
|
NM_170707.4(LMNA):c.379C>T (p.Leu127=)
|
rs1428192739
|
|
|
NM_170707.4(LMNA):c.382A>G (p.Ile128Val)
|
rs1338283666
|
|
|
NM_170707.4(LMNA):c.383T>C (p.Ile128Thr)
|
rs746475627
|
|
|
NM_170707.4(LMNA):c.386C>A (p.Ala129Asp)
|
rs768203943
|
|
|
NM_170707.4(LMNA):c.39G>A (p.Gly13=)
|
|
|
|
NM_170707.4(LMNA):c.451G>A (p.Ala151Thr)
|
|
|
|
NM_170707.4(LMNA):c.486G>A (p.Leu162=)
|
rs727503135
|
|
|
NM_170707.4(LMNA):c.488A>G (p.His163Arg)
|
rs1650987918
|
|
|
NM_170707.4(LMNA):c.489T>G (p.His163Gln)
|
rs1558126350
|
|
|
NM_170707.4(LMNA):c.503A>G (p.Gln168Arg)
|
|
|
|
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu)
|
rs1650991296
|
|
|
NM_170707.4(LMNA):c.513+8del
|
rs1650992817
|
|
|
NM_170707.4(LMNA):c.514-7dup
|
rs757260455
|
|
|
NM_170707.4(LMNA):c.521C>A (p.Ala174Glu)
|
rs762153472
|
|
|
NM_170707.4(LMNA):c.528A>T (p.Leu176=)
|
rs1026599240
|
|
|
NM_170707.4(LMNA):c.536C>A (p.Ala179Asp)
|
rs1651339300
|
|
|
NM_170707.4(LMNA):c.537C>T (p.Ala179=)
|
rs1651339696
|
|
|
NM_170707.4(LMNA):c.554A>T (p.Asp185Val)
|
rs1651341345
|
|
|
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)
|
rs267607571
|
|
|
NM_170707.4(LMNA):c.591G>A (p.Leu197=)
|
rs886044049
|
|
|
NM_170707.4(LMNA):c.610C>G (p.Leu204Val)
|
rs1553265177
|
|
|
NM_170707.4(LMNA):c.624G>A (p.Lys208=)
|
rs1651355363
|
|
|
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)
|
rs199474724
|
|
|
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr)
|
rs727505357
|
|
|
NM_170707.4(LMNA):c.693T>C (p.Asn231=)
|
rs886043393
|
|
|
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)
|
rs267607573
|
|
|
NM_170707.4(LMNA):c.71C>G (p.Thr24Ser)
|
rs1195524446
|
|
|
NM_170707.4(LMNA):c.729T>C (p.Asp243=)
|
rs753243743
|
|
|
NM_170707.4(LMNA):c.72C>G (p.Thr24=)
|
|
|
|
NM_170707.4(LMNA):c.748G>A (p.Ala250Thr)
|
rs1572360042
|
|
|
NM_170707.4(LMNA):c.751C>A (p.Gln251Lys)
|
|
|
|
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn)
|
rs1553265346
|
|
|
NM_170707.4(LMNA):c.765G>A (p.Gln255=)
|
rs1651412868
|
|
|
NM_170707.4(LMNA):c.76A>C (p.Ile26Leu)
|
|
|
|
NM_170707.4(LMNA):c.774G>A (p.Gln258=)
|
rs2102881783
|
|
|
NM_170707.4(LMNA):c.783G>C (p.Lys261Asn)
|
rs2102881882
|
|
|
NM_170707.4(LMNA):c.784_785delinsTT (p.Glu262Leu)
|
rs1651415727
|
|
|
NM_170707.4(LMNA):c.787C>A (p.Leu263Met)
|
rs750246389
|
|
|
NM_170707.4(LMNA):c.808A>C (p.Lys270Gln)
|
rs879253920
|
|
|
NM_170707.4(LMNA):c.810+4C>A
|
rs780196737
|
|
|
NM_170707.4(LMNA):c.810+5T>C
|
rs1651422506
|
|
|
NM_170707.4(LMNA):c.843C>T (p.Asn281=)
|
rs1651447057
|
|
|
NM_170707.4(LMNA):c.853G>T (p.Val285Leu)
|
rs746056534
|
|
|
NM_170707.4(LMNA):c.860C>T (p.Ala287Val)
|
rs397517910
|
|
|
NM_170707.4(LMNA):c.877C>G (p.Gln293Glu)
|
rs1553265455
|
|
|
NM_170707.4(LMNA):c.889A>G (p.Ile297Val)
|
rs886043082
|
|
|
NM_170707.4(LMNA):c.897C>G (p.Ile299Met)
|
rs762718963
|
|
|
NM_170707.4(LMNA):c.897C>T (p.Ile299=)
|
rs762718963
|
|
|
NM_170707.4(LMNA):c.8C>A (p.Thr3Asn)
|
rs1235021953
|
|
|
NM_170707.4(LMNA):c.900C>T (p.Asp300=)
|
|
|
|
NM_170707.4(LMNA):c.927C>A (p.Leu309=)
|
rs752558753
|
|
|
NM_170707.4(LMNA):c.927C>T (p.Leu309=)
|
rs752558753
|
|
|
NM_170707.4(LMNA):c.937-11C>A
|
rs267607645
|
|
|
NM_170707.4(LMNA):c.937-15C>T
|
|
|
|
NM_170707.4(LMNA):c.937-3C>T
|
|
|
|
NM_170707.4(LMNA):c.937-5T>C
|
rs1001248677
|
|
|
NM_170707.4(LMNA):c.937-6C>T
|
rs759083379
|
|
|
NM_170707.4(LMNA):c.937-8C>G
|
rs751707982
|
|
|
NM_170707.4(LMNA):c.937-8C>T
|
rs751707982
|
|
|
NM_170707.4(LMNA):c.969G>A (p.Leu323=)
|
rs1558130869
|
|
|
NM_170707.4(LMNA):c.985C>T (p.Arg329Cys)
|
rs775159300
|
|
|
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg)
|
rs1060499872
|
|
|
NM_198056.2(SCN5A):c.86_87invCA (p.Ala29Val)
|
|
|