NM_000071.3(CBS):c.*540G>A
|
rs111386779
|
0.01634
|
NM_000037.4(ANK1):c.5544+91C>T
|
rs72638959
|
0.00849
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_004998.4(MYO1E):c.1593C>G (p.Ile531Met)
|
rs140447165
|
0.00815
|
NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met)
|
rs61757218
|
0.00685
|
NM_000275.3(OCA2):c.574-19A>G
|
rs145242923
|
0.00618
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)
|
rs142841727
|
0.00439
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_002294.3(LAMP2):c.1093+2514G>A
|
rs144140265
|
0.00404
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn)
|
rs41277374
|
0.00382
|
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter)
|
rs182004761
|
0.00376
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00356
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_006393.3(NEBL):c.480+3A>G
|
rs71578983
|
0.00336
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val)
|
rs72657389
|
0.00307
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)
|
rs116524991
|
0.00282
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)
|
rs116920018
|
0.00276
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_012208.4(HARS2):c.7C>G (p.Leu3Val)
|
rs186043734
|
0.00273
|
NM_000218.3(KCNQ1):c.-5T>C
|
rs532941548
|
0.00267
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)
|
rs149748934
|
0.00240
|
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys)
|
rs145310298
|
0.00238
|
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
|
rs141010716
|
0.00227
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)
|
rs141620200
|
0.00222
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys)
|
rs191662816
|
0.00208
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
NM_198253.3(TERT):c.3105C>T (p.Val1035=)
|
rs181612536
|
0.00207
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp)
|
rs200146361
|
0.00205
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)
|
rs191736683
|
0.00200
|
NM_181426.2(CCDC39):c.1363-3del
|
rs551191744
|
0.00199
|
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met)
|
rs150403702
|
0.00197
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly)
|
rs202085918
|
0.00195
|
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097
|
0.00195
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met)
|
rs141202530
|
0.00192
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)
|
rs141873943
|
0.00191
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg)
|
rs144682235
|
0.00179
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly)
|
rs188319622
|
0.00176
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986
|
0.00176
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)
|
rs139165033
|
0.00171
|
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)
|
rs72773422
|
0.00170
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)
|
rs115113440
|
0.00170
|
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln)
|
rs144800506
|
0.00170
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_001378609.3(OTOGL):c.6968G>A (p.Arg2323Gln)
|
rs143495342
|
0.00168
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His)
|
rs200623501
|
0.00168
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00168
|
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)
|
rs373913240
|
0.00165
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn)
|
rs143730090
|
0.00160
|
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)
|
rs149772470
|
0.00160
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00159
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)
|
rs150911078
|
0.00158
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_017780.4(CHD7):c.2067G>A (p.Thr689=)
|
rs34979623
|
0.00156
|
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)
|
rs144494437
|
0.00155
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=)
|
rs77562287
|
0.00150
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
0.00149
|
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)
|
rs182139018
|
0.00147
|
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp)
|
rs142990800
|
0.00147
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu)
|
rs79730689
|
0.00145
|
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)
|
rs146954342
|
0.00145
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
NM_016239.4(MYO15A):c.54G>A (p.Lys18=)
|
rs144909486
|
0.00142
|
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)
|
rs572671060
|
0.00141
|
NM_144672.4(OTOA):c.2417A>C (p.Tyr806Ser)
|
rs464691
|
0.00141
|
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser)
|
rs181306086
|
0.00140
|
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)
|
rs113938044
|
0.00140
|
NM_000601.6(HGF):c.137C>T (p.Ala46Val)
|
rs150267054
|
0.00139
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp)
|
rs114917863
|
0.00137
|
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser)
|
rs202211640
|
0.00137
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00133
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=)
|
rs184127858
|
0.00131
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile)
|
rs150016894
|
0.00129
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=)
|
rs61736168
|
0.00127
|
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr)
|
rs548278514
|
0.00127
|
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile)
|
rs139779680
|
0.00127
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu)
|
rs199855270
|
0.00126
|
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)
|
rs115119858
|
0.00125
|
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly)
|
rs529972175
|
0.00125
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)
|
rs186394654
|
0.00124
|
NM_000414.4(HSD17B4):c.1210-8T>C
|
rs34254740
|
0.00123
|
NM_002524.5(NRAS):c.225C>T (p.Gly75=)
|
rs142739534
|
0.00123
|
NM_006005.3(WFS1):c.2052G>A (p.Ala684=)
|
rs71539668
|
0.00123
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr)
|
rs189893797
|
0.00122
|
NM_001292063.2(OTOG):c.5252G>A (p.Arg1751His)
|
rs185432248
|
0.00122
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)
|
rs138010738
|
0.00121
|
NM_017433.5(MYO3A):c.424C>T (p.His142Tyr)
|
rs140301218
|
0.00121
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
NM_032119.4(ADGRV1):c.207+3A>G
|
rs142356935
|
0.00119
|
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_001378609.3(OTOGL):c.860C>T (p.Ser287Leu)
|
rs147195954
|
0.00116
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu)
|
rs200187681
|
0.00115
|
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His)
|
rs144717803
|
0.00114
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00113
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
NM_001378609.3(OTOGL):c.2564C>T (p.Pro855Leu)
|
rs183159689
|
0.00111
|
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly)
|
rs145929269
|
0.00110
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser)
|
rs149911553
|
0.00110
|
NM_006941.4(SOX10):c.72C>T (p.Ser24=)
|
rs763019569
|
0.00110
|
NM_000384.3(APOB):c.2068-4T>A
|
rs41291161
|
0.00108
|
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)
|
rs183130427
|
0.00108
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)
|
rs139361545
|
0.00107
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys)
|
rs189255177
|
0.00105
|
NM_022124.6(CDH23):c.2865C>T (p.Arg955=)
|
rs79636933
|
0.00105
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr)
|
rs142794598
|
0.00103
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=)
|
rs76048624
|
0.00102
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00102
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
NM_133379.5(TTN):c.11254T>A (p.Ser3752Thr)
|
rs144209883
|
0.00102
|
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln)
|
rs147967199
|
0.00102
|
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)
|
rs111033508
|
0.00102
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_001018116.2(CAVIN4):c.243T>G (p.Asn81Lys)
|
rs149165620
|
0.00101
|
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=)
|
rs150266932
|
0.00101
|
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His)
|
rs192234924
|
0.00101
|
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly)
|
rs139087859
|
0.00100
|
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)
|
rs184866544
|
0.00098
|
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln)
|
rs113570783
|
0.00098
|
NM_015404.4(WHRN):c.1149C>T (p.Thr383=)
|
rs149558159
|
0.00098
|
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln)
|
rs145019640
|
0.00098
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=)
|
rs138680809
|
0.00096
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_017433.5(MYO3A):c.585+4A>T
|
rs202189844
|
0.00095
|
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)
|
rs2055006
|
0.00094
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00093
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00093
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00093
|
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr)
|
rs148735953
|
0.00093
|
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp)
|
rs140542643
|
0.00093
|
NM_194248.3(OTOF):c.1530C>T (p.Ile510=)
|
rs150452778
|
0.00093
|
NM_022124.6(CDH23):c.4488+7C>T
|
rs374215303
|
0.00092
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=)
|
rs111033366
|
0.00091
|
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)
|
rs200648462
|
0.00090
|
NM_001378609.3(OTOGL):c.2357T>C (p.Phe786Ser)
|
rs192944055
|
0.00088
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297
|
0.00088
|
NM_033337.3(CAV3):c.40G>A (p.Val14Ile)
|
rs121909281
|
0.00088
|
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His)
|
rs189248390
|
0.00087
|
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=)
|
rs564053026
|
0.00087
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)
|
rs146731467
|
0.00086
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)
|
rs371831553
|
0.00086
|
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser)
|
rs150549897
|
0.00085
|
NM_206933.4(USH2A):c.8559-7G>A
|
rs199618999
|
0.00085
|
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
|
rs140080678
|
0.00084
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)
|
rs56059137
|
0.00083
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
|
rs202064612
|
0.00083
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00083
|
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=)
|
rs72647541
|
0.00082
|
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu)
|
rs139258361
|
0.00081
|
NM_004568.6(SERPINB6):c.100A>G (p.Met34Val)
|
rs145538358
|
0.00081
|
NM_153700.2(STRC):c.4157T>C (p.Val1386Ala)
|
rs377674360
|
0.00081
|
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys)
|
rs140613217
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=)
|
rs200459890
|
0.00080
|
NM_004517.4(ILK):c.65A>G (p.Asn22Ser)
|
rs114115159
|
0.00080
|
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)
|
rs138951890
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His)
|
rs139375212
|
0.00079
|
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)
|
rs200532919
|
0.00079
|
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=)
|
rs150069819
|
0.00078
|
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys)
|
rs184043065
|
0.00078
|
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=)
|
rs200946170
|
0.00078
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00078
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr)
|
rs142036299
|
0.00076
|
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)
|
rs201505306
|
0.00076
|
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp)
|
rs61734125
|
0.00076
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
NM_006005.3(WFS1):c.1152C>T (p.Phe384=)
|
rs149846741
|
0.00076
|
NM_024915.4(GRHL2):c.804C>T (p.Thr268=)
|
rs55682875
|
0.00076
|
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=)
|
rs139404261
|
0.00076
|
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)
|
rs201236317
|
0.00076
|
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg)
|
rs111033450
|
0.00076
|
NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile)
|
rs61758992
|
0.00074
|
NM_014908.4(DOLK):c.671A>T (p.Asp224Val)
|
rs17485436
|
0.00074
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568
|
0.00074
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_005422.4(TECTA):c.2604G>T (p.Thr868=)
|
rs139509847
|
0.00073
|
NM_001378609.3(OTOGL):c.2551G>A (p.Asp851Asn)
|
rs112430701
|
0.00072
|
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg)
|
rs201667254
|
0.00072
|
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)
|
rs75870842
|
0.00071
|
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)
|
rs370996795
|
0.00071
|
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser)
|
rs199910006
|
0.00071
|
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn)
|
rs111033261
|
0.00071
|
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr)
|
rs139520402
|
0.00070
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
NM_001292063.2(OTOG):c.3229A>G (p.Ile1077Val)
|
rs56359117
|
0.00070
|
NM_006383.4(CIB2):c.523A>C (p.Lys175Gln)
|
rs200546031
|
0.00070
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp)
|
rs138130914
|
0.00070
|
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)
|
rs111033193
|
0.00069
|
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)
|
rs139717960
|
0.00069
|
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=)
|
rs191266255
|
0.00069
|
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=)
|
rs142788731
|
0.00069
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met)
|
rs145502954
|
0.00068
|
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=)
|
rs144290224
|
0.00067
|
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)
|
rs200392821
|
0.00067
|
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln)
|
rs147088274
|
0.00067
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)
|
rs151036570
|
0.00066
|
NM_002473.6(MYH9):c.591G>A (p.Ser197=)
|
rs140241271
|
0.00066
|
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His)
|
rs201416399
|
0.00066
|
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser)
|
rs139921272
|
0.00065
|
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)
|
rs114116572
|
0.00065
|
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=)
|
rs147560504
|
0.00065
|
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=)
|
rs111033229
|
0.00064
|
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser)
|
rs144918959
|
0.00064
|
NM_001039141.3(TRIOBP):c.202A>G (p.Thr68Ala)
|
rs200529550
|
0.00063
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr)
|
rs376122149
|
0.00063
|
NM_022124.6(CDH23):c.1185C>T (p.Ser395=)
|
rs185105210
|
0.00063
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00063
|
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe)
|
rs148426950
|
0.00062
|
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)
|
rs139833874
|
0.00061
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
NM_001292063.2(OTOG):c.6521A>G (p.Asn2174Ser)
|
rs368261417
|
0.00061
|
NM_022124.6(CDH23):c.9198+13C>T
|
rs375384238
|
0.00061
|
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys)
|
rs138087806
|
0.00061
|
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)
|
rs200115167
|
0.00060
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=)
|
rs200793989
|
0.00058
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)
|
rs201673771
|
0.00058
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile)
|
rs140220538
|
0.00057
|
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys)
|
rs71524353
|
0.00057
|
NM_001379180.1(ESRRB):c.*1535G>A
|
rs200237229
|
0.00056
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)
|
rs201963060
|
0.00056
|
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)
|
rs139486133
|
0.00056
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)
|
rs199868951
|
0.00055
|
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)
|
rs72646849
|
0.00055
|
NM_015404.4(WHRN):c.1455G>A (p.Pro485=)
|
rs141807746
|
0.00055
|
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys)
|
rs142257684
|
0.00054
|
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val)
|
rs148140756
|
0.00054
|
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys)
|
rs141169746
|
0.00054
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
NM_002473.6(MYH9):c.1566G>A (p.Pro522=)
|
rs145517108
|
0.00054
|
NM_003672.4(CDC14A):c.31G>A (p.Ala11Thr)
|
rs140623300
|
0.00054
|
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr)
|
rs201968775
|
0.00054
|
NM_206933.4(USH2A):c.7301-6C>T
|
rs375499259
|
0.00054
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)
|
rs146655362
|
0.00053
|
NM_022124.6(CDH23):c.1446C>A (p.Val482=)
|
rs200324241
|
0.00053
|
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile)
|
rs200786014
|
0.00053
|
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)
|
rs376804660
|
0.00053
|
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)
|
rs201890097
|
0.00053
|
NM_147196.3(TMIE):c.219G>A (p.Thr73=)
|
rs202208051
|
0.00053
|
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu)
|
rs144045691
|
0.00052
|
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val)
|
rs149615862
|
0.00052
|
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile)
|
rs199798449
|
0.00052
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=)
|
rs370297602
|
0.00051
|
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met)
|
rs139814109
|
0.00051
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
NM_001267550.2(TTN):c.23378-10C>A
|
rs72648975
|
0.00051
|
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu)
|
rs192788942
|
0.00051
|
NM_001292063.2(OTOG):c.6937C>T (p.Pro2313Ser)
|
rs543999548
|
0.00051
|
NM_001292063.2(OTOG):c.7975G>A (p.Val2659Met)
|
rs542442173
|
0.00051
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
NM_144991.3(TSPEAR):c.943G>A (p.Val315Met)
|
rs148421362
|
0.00051
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
NM_001077365.2(POMT1):c.42C>T (p.Asp14=)
|
rs150937126
|
0.00050
|
NM_001146079.2(CLDN14):c.690C>T (p.His230=)
|
rs149733854
|
0.00050
|
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)
|
rs147946775
|
0.00049
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00049
|
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile)
|
rs201734915
|
0.00049
|
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys)
|
rs140154015
|
0.00049
|
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)
|
rs182990046
|
0.00049
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00049
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
NM_000503.6(EYA1):c.1699-8T>C
|
rs201537030
|
0.00048
|
NM_001292063.2(OTOG):c.4246C>T (p.Arg1416Trp)
|
rs559512010
|
0.00048
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser)
|
rs143827620
|
0.00048
|
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)
|
rs56035336
|
0.00048
|
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=)
|
rs376298949
|
0.00048
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=)
|
rs147321712
|
0.00048
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
NM_001386795.1(DTNA):c.955A>G (p.Met319Val)
|
rs141981161
|
0.00047
|
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe)
|
rs189061214
|
0.00047
|
NM_024915.4(GRHL2):c.454G>A (p.Val152Met)
|
rs147703146
|
0.00047
|
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)
|
rs146445078
|
0.00047
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00046
|
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)
|
rs186624523
|
0.00046
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00046
|
NM_001267550.2(TTN):c.65276-8T>C
|
rs377484398
|
0.00046
|
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys)
|
rs199518750
|
0.00046
|
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro)
|
rs201826872
|
0.00046
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00046
|
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)
|
rs144094650
|
0.00045
|
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr)
|
rs141027782
|
0.00045
|
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)
|
rs201348580
|
0.00045
|
NM_001292063.2(OTOG):c.94+75G>T
|
rs550807341
|
0.00045
|
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=)
|
rs146796009
|
0.00045
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile)
|
rs141011840
|
0.00045
|
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln)
|
rs139193948
|
0.00045
|
NM_016239.4(MYO15A):c.7665C>T (p.Ser2555=)
|
rs183834387
|
0.00045
|
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)
|
rs111033522
|
0.00045
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)
|
rs200901330
|
0.00044
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)
|
rs149659876
|
0.00044
|
NM_004817.4(TJP2):c.2880+19C>T
|
rs200384355
|
0.00044
|
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys)
|
rs181571822
|
0.00044
|
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile)
|
rs201364852
|
0.00044
|
NM_080680.3(COL11A2):c.480T>G (p.Ser160=)
|
rs142969513
|
0.00044
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00043
|
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=)
|
rs138980048
|
0.00043
|
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=)
|
rs375811590
|
0.00043
|
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)
|
rs201622536
|
0.00043
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)
|
rs72648971
|
0.00042
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
NM_005379.4(MYO1A):c.658C>T (p.Arg220Trp)
|
rs144009842
|
0.00042
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser)
|
rs35874056
|
0.00041
|
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser)
|
rs201728165
|
0.00041
|
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)
|
rs72648212
|
0.00041
|
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)
|
rs143947828
|
0.00041
|
NM_004817.4(TJP2):c.918C>T (p.Ile306=)
|
rs374523970
|
0.00041
|
NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val)
|
rs56261037
|
0.00041
|
NM_024747.6(HPS6):c.2250G>A (p.Ser750=)
|
rs139161525
|
0.00041
|
NM_206933.4(USH2A):c.10470G>T (p.Val3490=)
|
rs201401001
|
0.00041
|
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)
|
rs150264233
|
0.00040
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
NM_001292063.2(OTOG):c.4021C>T (p.Arg1341Trp)
|
rs200215464
|
0.00040
|
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=)
|
rs139525746
|
0.00040
|
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)
|
rs17224367
|
0.00039
|
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)
|
rs202089818
|
0.00039
|
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195
|
0.00039
|
NM_015404.4(WHRN):c.1678G>A (p.Ala560Thr)
|
rs182072601
|
0.00039
|
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu)
|
rs141181035
|
0.00038
|
NM_001267550.2(TTN):c.180T>C (p.Asp60=)
|
rs144750850
|
0.00038
|
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)
|
rs201738153
|
0.00038
|
NM_178335.3(CCDC50):c.1429+5G>A
|
rs375535283
|
0.00038
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)
|
rs144415484
|
0.00037
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
NM_000256.3(MYBPC3):c.906-7G>T
|
rs397516079
|
0.00036
|
NM_001145809.2(MYH14):c.1115-4C>T
|
rs142696359
|
0.00036
|
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)
|
rs199508062
|
0.00036
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala)
|
rs199749212
|
0.00036
|
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro)
|
rs143764931
|
0.00036
|
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)
|
rs201689819
|
0.00036
|
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=)
|
rs376636949
|
0.00036
|
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met)
|
rs200191563
|
0.00036
|
NM_000257.4(MYH7):c.2334C>T (p.Asp778=)
|
rs2069544
|
0.00035
|
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)
|
rs117966637
|
0.00035
|
NM_000260.4(MYO7A):c.849+7C>G
|
rs370740228
|
0.00035
|
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys)
|
rs376800688
|
0.00035
|
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)
|
rs72648205
|
0.00035
|
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile)
|
rs545321215
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
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_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser)
|
rs201251963
|
0.00034
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158
|
0.00034
|
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys)
|
rs201117318
|
0.00034
|
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=)
|
rs202132383
|
0.00034
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00034
|
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser)
|
rs201540919
|
0.00034
|
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)
|
rs369704754
|
0.00033
|
NM_006941.4(SOX10):c.753G>A (p.Ser251=)
|
rs376907937
|
0.00033
|
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser)
|
rs146693681
|
0.00033
|
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser)
|
rs200496467
|
0.00033
|
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=)
|
rs201989155
|
0.00032
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00032
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)
|
rs377388669
|
0.00032
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)
|
rs369941201
|
0.00032
|
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
NM_002473.6(MYH9):c.1491C>T (p.Ile497=)
|
rs146487404
|
0.00032
|
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln)
|
rs200697103
|
0.00032
|
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=)
|
rs202066007
|
0.00032
|
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser)
|
rs191901426
|
0.00031
|
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=)
|
rs373050209
|
0.00031
|
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln)
|
rs200226466
|
0.00031
|
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met)
|
rs117287351
|
0.00031
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)
|
rs372382315
|
0.00031
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)
|
rs72648226
|
0.00031
|
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg)
|
rs189432084
|
0.00031
|
NM_001369.3(DNAH5):c.11570+8T>C
|
rs369789559
|
0.00031
|
NM_004004.6(GJB2):c.499G>A (p.Val167Met)
|
rs111033360
|
0.00031
|
NM_014908.4(DOLK):c.1394G>A (p.Arg465His)
|
rs148930043
|
0.00031
|
NM_133261.3(GIPC3):c.20G>A (p.Arg7Gln)
|
rs998073430
|
0.00031
|
NM_133261.3(GIPC3):c.440G>A (p.Arg147Gln)
|
rs141293401
|
0.00031
|
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=)
|
rs55821172
|
0.00030
|
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr)
|
rs371452173
|
0.00030
|
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=)
|
rs372686070
|
0.00030
|
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)
|
rs72646870
|
0.00030
|
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)
|
rs140596256
|
0.00030
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=)
|
rs397516327
|
0.00029
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His)
|
rs138946894
|
0.00029
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)
|
rs372528823
|
0.00029
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_002471.4(MYH6):c.831G>T (p.Gln277His)
|
rs140660481
|
0.00029
|
NM_002834.5(PTPN11):c.48A>G (p.Ala16=)
|
rs372736227
|
0.00029
|
NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp)
|
rs138121304
|
0.00029
|
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His)
|
rs201794696
|
0.00029
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=)
|
rs373352597
|
0.00029
|
NM_133379.5(TTN):c.13123G>T (p.Ala4375Ser)
|
rs72647902
|
0.00029
|
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=)
|
rs368119524
|
0.00028
|
NM_001039876.3(SYNE4):c.638C>T (p.Thr213Met)
|
rs199916743
|
0.00028
|
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser)
|
rs727503392
|
0.00028
|
NM_001199799.2(ILDR1):c.1159T>C (p.Ser387Pro)
|
rs150250182
|
0.00028
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=)
|
rs373223049
|
0.00028
|
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)
|
rs202160275
|
0.00028
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00028
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)
|
rs368686031
|
0.00028
|
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln)
|
rs142009291
|
0.00028
|
NM_004281.4(BAG3):c.771C>T (p.Pro257=)
|
rs200212999
|
0.00028
|
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=)
|
rs376881824
|
0.00028
|
NM_144573.4(NEXN):c.242A>T (p.Asp81Val)
|
rs367871780
|
0.00028
|
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)
|
rs143352618
|
0.00028
|
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile)
|
rs201610096
|
0.00027
|
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=)
|
rs149566576
|
0.00027
|
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=)
|
rs377697825
|
0.00026
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
NM_001267550.2(TTN):c.57263-4C>T
|
rs373552048
|
0.00026
|
NM_001267550.2(TTN):c.74844G>A (p.Lys24948=)
|
rs371884545
|
0.00026
|
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)
|
rs145133144
|
0.00026
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu)
|
rs148934350
|
0.00026
|
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala)
|
rs138251566
|
0.00026
|
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln)
|
rs199783506
|
0.00026
|
NM_017433.5(MYO3A):c.4045G>C (p.Ala1349Pro)
|
rs149521185
|
0.00026
|
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=)
|
rs140255091
|
0.00026
|
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=)
|
rs200874968
|
0.00026
|
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val)
|
rs138326802
|
0.00026
|
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)
|
rs138398671
|
0.00026
|
NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=)
|
rs368984050
|
0.00025
|
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)
|
rs201674674
|
0.00025
|
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=)
|
rs111033493
|
0.00025
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_001039876.3(SYNE4):c.625G>A (p.Glu209Lys)
|
rs149470089
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)
|
rs188996850
|
0.00024
|
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)
|
rs79406408
|
0.00024
|
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=)
|
rs75948012
|
0.00024
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)
|
rs370479059
|
0.00024
|
NM_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu)
|
rs200797401
|
0.00024
|
NM_024334.3(TMEM43):c.564C>T (p.Gly188=)
|
rs143124744
|
0.00024
|
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=)
|
rs143592561
|
0.00023
|
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=)
|
rs372635204
|
0.00023
|
NM_001267550.2(TTN):c.59344+3G>A
|
rs142095604
|
0.00023
|
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr)
|
rs527738649
|
0.00023
|
NM_006005.3(WFS1):c.2250C>T (p.Ala750=)
|
rs369498603
|
0.00023
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
NM_015340.4(LARS2):c.338G>A (p.Arg113Gln)
|
rs138437422
|
0.00023
|
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)
|
rs201297042
|
0.00023
|
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
NM_001267550.2(TTN):c.107377+14C>T
|
rs367908657
|
0.00022
|
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)
|
rs372619046
|
0.00022
|
NM_004086.3(COCH):c.22G>A (p.Ala8Thr)
|
rs200935305
|
0.00022
|
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr)
|
rs140125843
|
0.00022
|
NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu)
|
rs143155251
|
0.00022
|
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val)
|
rs375921325
|
0.00022
|
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln)
|
rs142157418
|
0.00022
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00021
|
NM_001039141.3(TRIOBP):c.6007G>A (p.Gly2003Ser)
|
rs397516554
|
0.00021
|
NM_001039876.3(SYNE4):c.1127C>T (p.Ala376Val)
|
rs199938988
|
0.00021
|
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln)
|
rs150043310
|
0.00021
|
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)
|
rs201035457
|
0.00021
|
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)
|
rs145039979
|
0.00021
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00021
|
NM_004100.5(EYA4):c.987G>T (p.Met329Ile)
|
rs146144708
|
0.00021
|
NM_004568.6(SERPINB6):c.430+3G>A
|
rs201080069
|
0.00021
|
NM_006005.3(WFS1):c.1758C>T (p.Ala586=)
|
rs145144527
|
0.00021
|
NM_006393.3(NEBL):c.82-4A>G
|
rs368268112
|
0.00021
|
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=)
|
rs201026034
|
0.00021
|
NM_016239.4(MYO15A):c.8768G>A (p.Arg2923Gln)
|
rs761180573
|
0.00021
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu)
|
rs199894395
|
0.00021
|
NM_022124.6(CDH23):c.551G>A (p.Arg184His)
|
rs201132251
|
0.00021
|
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His)
|
rs202067248
|
0.00021
|
NM_133379.5(TTN):c.16020T>C (p.His5340=)
|
rs200378944
|
0.00021
|
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu)
|
rs749285793
|
0.00020
|
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile)
|
rs200430493
|
0.00020
|
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser)
|
rs188528174
|
0.00020
|
NM_004006.3(DMD):c.7521C>T (p.Asn2507=)
|
rs112516305
|
0.00020
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
NM_017433.5(MYO3A):c.4073G>A (p.Arg1358Gln)
|
rs141903506
|
0.00020
|
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala)
|
rs144817385
|
0.00020
|
NM_206933.4(USH2A):c.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
NM_000260.4(MYO7A):c.904C>T (p.Arg302Cys)
|
rs781922871
|
0.00019
|
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)
|
rs397516338
|
0.00019
|
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=)
|
rs371447978
|
0.00019
|
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)
|
rs200797552
|
0.00019
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe)
|
rs764692193
|
0.00019
|
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)
|
rs200786705
|
0.00019
|
NM_017433.5(MYO3A):c.3730T>C (p.Tyr1244His)
|
rs148993025
|
0.00019
|
NM_017668.3(NDE1):c.948-5740C>T
|
rs373378619
|
0.00019
|
NM_032119.4(ADGRV1):c.2734+8A>G
|
rs371906040
|
0.00019
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu)
|
rs191568463
|
0.00019
|
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile)
|
rs199613764
|
0.00019
|
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His)
|
rs189729452
|
0.00019
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_001038603.3(MARVELD2):c.211A>G (p.Ile71Val)
|
rs150773481
|
0.00018
|
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=)
|
rs372124201
|
0.00018
|
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=)
|
rs377164046
|
0.00018
|
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys)
|
rs371973579
|
0.00018
|
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)
|
rs376532382
|
0.00018
|
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)
|
rs369626133
|
0.00018
|
NM_022124.6(CDH23):c.3431-6A>T
|
rs377614198
|
0.00018
|
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln)
|
rs369678002
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly)
|
rs201008196
|
0.00017
|
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val)
|
rs146690035
|
0.00017
|
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln)
|
rs727504191
|
0.00017
|
NM_001267550.2(TTN):c.65575+10T>C
|
rs72646864
|
0.00017
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
NM_001614.5(ACTG1):c.825C>T (p.His275=)
|
rs145303691
|
0.00017
|
NM_004999.4(MYO6):c.188-3T>C
|
rs373199401
|
0.00017
|
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala)
|
rs376612687
|
0.00017
|
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=)
|
rs371932558
|
0.00017
|
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=)
|
rs201089046
|
0.00017
|
NM_033337.3(CAV3):c.234G>A (p.Thr78=)
|
rs148846096
|
0.00017
|
NM_138691.3(TMC1):c.2070G>A (p.Ala690=)
|
rs145757452
|
0.00017
|
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)
|
rs147204964
|
0.00017
|
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_000368.5(TSC1):c.201A>G (p.Pro67=)
|
rs371555137
|
0.00016
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)
|
rs371826762
|
0.00016
|
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=)
|
rs550471556
|
0.00016
|
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)
|
rs115867512
|
0.00016
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00016
|
NM_001267550.2(TTN):c.7316G>A (p.Arg2439His)
|
rs142129359
|
0.00016
|
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)
|
rs368423941
|
0.00016
|
NM_001292063.2(OTOG):c.2294-6C>T
|
rs201721923
|
0.00016
|
NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu)
|
rs542646349
|
0.00016
|
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly)
|
rs111033449
|
0.00016
|
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=)
|
rs141737883
|
0.00016
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln)
|
rs201638005
|
0.00016
|
NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr)
|
rs148582008
|
0.00016
|
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)
|
rs202043599
|
0.00016
|
NM_022124.6(CDH23):c.6050-10C>T
|
rs560760228
|
0.00016
|
NM_031475.3(ESPN):c.2215C>G (p.Leu739Val)
|
rs368795540
|
0.00016
|
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met)
|
rs1996552
|
0.00016
|
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=)
|
rs115239207
|
0.00016
|
NM_032119.4(ADGRV1):c.14575G>A (p.Gly4859Ser)
|
rs747275713
|
0.00016
|
NM_032119.4(ADGRV1):c.17613G>A (p.Gln5871=)
|
rs371091564
|
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_174878.3(CLRN1):c.226T>C (p.Leu76=)
|
rs139829306
|
0.00016
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00016
|
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)
|
rs138543813
|
0.00016
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=)
|
rs368706722
|
0.00015
|
NM_000337.6(SGCD):c.123C>G (p.Leu41=)
|
rs200670993
|
0.00015
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00015
|
NM_000601.6(HGF):c.471A>G (p.Pro157=)
|
rs142045938
|
0.00015
|
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)
|
rs181679744
|
0.00015
|
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr)
|
rs146999911
|
0.00015
|
NM_004568.6(SERPINB6):c.125A>C (p.Tyr42Ser)
|
rs147962494
|
0.00015
|
NM_005422.4(TECTA):c.33C>A (p.Val11=)
|
rs140393508
|
0.00015
|
NM_006005.3(WFS1):c.2667G>A (p.Ala889=)
|
rs71526454
|
0.00015
|
NM_194248.3(OTOF):c.446C>T (p.Thr149Met)
|
rs140454738
|
0.00015
|
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro)
|
rs145114473
|
0.00015
|
NM_206933.4(USH2A):c.1590A>T (p.Thr530=)
|
rs144343161
|
0.00015
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile)
|
rs397516596
|
0.00014
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00014
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00014
|
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)
|
rs141961878
|
0.00014
|
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val)
|
rs397517627
|
0.00014
|
NM_001267550.2(TTN):c.89946C>T (p.Val29982=)
|
rs373311459
|
0.00014
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
NM_001378609.3(OTOGL):c.1111C>T (p.His371Tyr)
|
rs78377084
|
0.00014
|
NM_001393500.2(TOMT):c.110G>A (p.Arg37Gln)
|
rs188715129
|
0.00014
|
NM_001393500.2(TOMT):c.745A>C (p.Ile249Leu)
|
rs727503153
|
0.00014
|
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr)
|
rs891844407
|
0.00014
|
NM_002880.4(RAF1):c.680+6T>C
|
rs371846795
|
0.00014
|
NM_004999.4(MYO6):c.2665A>G (p.Met889Val)
|
rs727505098
|
0.00014
|
NM_006005.3(WFS1):c.1399C>T (p.Leu467=)
|
rs142700542
|
0.00014
|
NM_015340.4(LARS2):c.1383T>C (p.Ile461=)
|
rs35347543
|
0.00014
|
NM_016239.4(MYO15A):c.829C>T (p.His277Tyr)
|
rs201541616
|
0.00014
|
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)
|
rs376560330
|
0.00014
|
NM_022124.6(CDH23):c.2940G>A (p.Thr980=)
|
rs373631099
|
0.00014
|
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn)
|
rs182395524
|
0.00014
|
NM_057176.3(BSND):c.102C>T (p.Tyr34=)
|
rs141403253
|
0.00014
|
NM_153676.4(USH1C):c.790G>A (p.Val264Ile)
|
rs79875849
|
0.00014
|
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=)
|
rs397517991
|
0.00014
|
NM_206933.4(USH2A):c.1581C>T (p.Cys527=)
|
rs140331348
|
0.00014
|
NM_000257.4(MYH7):c.3726+6C>T
|
rs377745688
|
0.00013
|
NM_001031679.3(MSRB3):c.-67G>C
|
rs368104588
|
0.00013
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln)
|
rs200528850
|
0.00013
|
NM_001145809.2(MYH14):c.810C>T (p.Phe270=)
|
rs374146214
|
0.00013
|
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His)
|
rs146159479
|
0.00013
|
NM_001267550.2(TTN):c.16480G>A (p.Gly5494Arg)
|
rs727504697
|
0.00013
|
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)
|
rs199778910
|
0.00013
|
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)
|
rs374879942
|
0.00013
|
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
|
rs72648997
|
0.00013
|
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile)
|
rs201687390
|
0.00013
|
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=)
|
rs373509153
|
0.00013
|
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp)
|
rs201994383
|
0.00013
|
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)
|
rs368512832
|
0.00013
|
NM_002880.4(RAF1):c.94A>G (p.Ile32Val)
|
rs372738063
|
0.00013
|
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=)
|
rs367977493
|
0.00013
|
NM_022124.6(CDH23):c.1803C>G (p.Val601=)
|
rs201024982
|
0.00013
|
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=)
|
rs375077719
|
0.00013
|
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu)
|
rs200659780
|
0.00013
|
NM_057176.3(BSND):c.806G>A (p.Arg269Gln)
|
rs199832638
|
0.00013
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)
|
rs200794097
|
0.00012
|
NM_000260.4(MYO7A):c.4441+7C>T
|
rs372493678
|
0.00012
|
NM_001005242.3(PKP2):c.1379-2005A>G
|
rs397516995
|
0.00012
|
NM_001080476.3(GRXCR1):c.825G>A (p.Thr275=)
|
rs370629848
|
0.00012
|
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr)
|
rs112226602
|
0.00012
|
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=)
|
rs376894729
|
0.00012
|
NM_001267550.2(TTN):c.204C>T (p.Pro68=)
|
rs201089861
|
0.00012
|
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile)
|
rs374394719
|
0.00012
|
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)
|
rs368021072
|
0.00012
|
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)
|
rs56245285
|
0.00012
|
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val)
|
rs377282102
|
0.00012
|
NM_006383.4(CIB2):c.192G>A (p.Glu64=)
|
rs145415848
|
0.00012
|
NM_021116.4(ADCY1):c.2338G>A (p.Val780Ile)
|
rs140746527
|
0.00012
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)
|
rs199552354
|
0.00011
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576
|
0.00011
|
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)
|
rs201504674
|
0.00011
|
NM_001039213.4(CEACAM16):c.527G>A (p.Arg176His)
|
rs746541677
|
0.00011
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=)
|
rs376037792
|
0.00011
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
NM_001267550.2(TTN):c.19715-4A>G
|
rs375009631
|
0.00011
|
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=)
|
rs369095270
|
0.00011
|
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp)
|
rs144672482
|
0.00011
|
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)
|
rs72646889
|
0.00011
|
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)
|
rs377334665
|
0.00011
|
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=)
|
rs201380749
|
0.00011
|
NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala)
|
rs556720151
|
0.00011
|
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)
|
rs373853269
|
0.00011
|
NM_002471.4(MYH6):c.1410C>T (p.Asp470=)
|
rs139886074
|
0.00011
|
NM_005422.4(TECTA):c.915C>T (p.Cys305=)
|
rs367974065
|
0.00011
|
NM_015404.4(WHRN):c.2112G>T (p.Leu704=)
|
rs535492772
|
0.00011
|
NM_022124.6(CDH23):c.1450-4G>A
|
rs374549358
|
0.00011
|
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=)
|
rs373354231
|
0.00011
|
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His)
|
rs375122809
|
0.00011
|
NM_032119.4(ADGRV1):c.5892T>C (p.Asn1964=)
|
rs201983595
|
0.00011
|
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)
|
rs111033517
|
0.00011
|
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=)
|
rs372015149
|
0.00011
|
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)
|
rs139506719
|
0.00010
|
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr)
|
rs374576916
|
0.00010
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
NM_000337.6(SGCD):c.394G>A (p.Val132Ile)
|
rs367819390
|
0.00010
|
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn)
|
rs138462416
|
0.00010
|
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu)
|
rs180177462
|
0.00010
|
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)
|
rs372521529
|
0.00010
|
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)
|
rs377337528
|
0.00010
|
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys)
|
rs727504586
|
0.00010
|
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met)
|
rs201506104
|
0.00010
|
NM_001267550.2(TTN):c.26928G>A (p.Leu8976=)
|
rs370973715
|
0.00010
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00010
|
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00010
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=)
|
rs371511963
|
0.00010
|
NM_002473.6(MYH9):c.1149C>T (p.Thr383=)
|
rs143974891
|
0.00010
|
NM_003280.3(TNNC1):c.210C>T (p.Gly70=)
|
rs141505676
|
0.00010
|
NM_004447.6(EPS8):c.670G>A (p.Val224Ile)
|
rs758506896
|
0.00010
|
NM_015404.4(WHRN):c.1696G>C (p.Val566Leu)
|
rs189654215
|
0.00010
|
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=)
|
rs186866326
|
0.00010
|
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr)
|
rs201180985
|
0.00010
|
NM_057176.3(BSND):c.457G>A (p.Asp153Asn)
|
rs202128855
|
0.00010
|
NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met)
|
rs200570742
|
0.00010
|
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu)
|
rs200860702
|
0.00009
|
NM_000169.3(GLA):c.945C>T (p.Asp315=)
|
rs151208856
|
0.00009
|
NM_000260.4(MYO7A):c.3750+7G>A
|
rs397516305
|
0.00009
|
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=)
|
rs111033376
|
0.00009
|
NM_000371.4(TTR):c.354C>T (p.Asn118=)
|
rs11541797
|
0.00009
|
NM_000441.2(SLC26A4):c.61A>G (p.Met21Val)
|
rs375716219
|
0.00009
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
NM_000601.6(HGF):c.270T>C (p.Asp90=)
|
rs145598174
|
0.00009
|
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)
|
rs201649140
|
0.00009
|
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=)
|
rs186672543
|
0.00009
|
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile)
|
rs773237428
|
0.00009
|
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)
|
rs183328495
|
0.00009
|
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr)
|
rs143030869
|
0.00009
|
NM_001267550.2(TTN):c.17183-7C>T
|
rs371785683
|
0.00009
|
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=)
|
rs201904848
|
0.00009
|
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=)
|
rs556205722
|
0.00009
|
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=)
|
rs375022009
|
0.00009
|
NM_001267550.2(TTN):c.34192G>T (p.Val11398Phe)
|
rs551911856
|
0.00009
|
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)
|
rs369800903
|
0.00009
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
NM_001267550.2(TTN):c.68225-5T>C
|
rs758273663
|
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.837C>T (p.Asn279=)
|
rs376923877
|
0.00009
|
NM_001318895.3(FHL2):c.392G>A (p.Arg131His)
|
rs371421189
|
0.00009
|
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr)
|
rs775475186
|
0.00009
|
NM_001927.4(DES):c.642C>T (p.Asp214=)
|
rs370239228
|
0.00009
|
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
NM_005379.4(MYO1A):c.2082C>G (p.Arg694=)
|
rs189900453
|
0.00009
|
NM_006016.6(CD164):c.330C>T (p.Ser110=)
|
rs199887608
|
0.00009
|
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)
|
rs376450705
|
0.00009
|
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His)
|
rs377389290
|
0.00009
|
NM_022124.6(CDH23):c.3070G>A (p.Val1024Met)
|
rs397517319
|
0.00009
|
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr)
|
rs375632680
|
0.00009
|
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=)
|
rs375062187
|
0.00009
|
NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu)
|
rs200179979
|
0.00009
|
NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu)
|
rs201245117
|
0.00009
|
NM_133379.5(TTN):c.13746A>G (p.Gln4582=)
|
rs201945197
|
0.00009
|
NM_144672.4(OTOA):c.2153A>G (p.Asp718Gly)
|
rs767518359
|
0.00009
|
NM_153676.4(USH1C):c.2124T>C (p.Ser708=)
|
rs369021714
|
0.00009
|
NM_206933.4(USH2A):c.6537T>C (p.Tyr2179=)
|
rs768759268
|
0.00009
|
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)
|
rs45560242
|
0.00008
|
NM_001005242.3(PKP2):c.918C>T (p.Pro306=)
|
rs368656084
|
0.00008
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
NM_001145809.2(MYH14):c.3778G>A (p.Gly1260Ser)
|
rs200272339
|
0.00008
|
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=)
|
rs370869383
|
0.00008
|
NM_001267550.2(TTN):c.31071C>T (p.His10357=)
|
rs368973334
|
0.00008
|
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)
|
rs200476500
|
0.00008
|
NM_001354604.2(MITF):c.537C>T (p.Asn179=)
|
rs150591206
|
0.00008
|
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met)
|
rs186780639
|
0.00008
|
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=)
|
rs373768157
|
0.00008
|
NM_032122.5(DTNBP1):c.790A>G (p.Thr264Ala)
|
rs753618520
|
0.00008
|
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=)
|
rs369726425
|
0.00008
|
NM_153676.4(USH1C):c.587G>A (p.Arg196Gln)
|
rs397517883
|
0.00008
|
NM_182548.4(LHFPL5):c.411G>A (p.Ala137=)
|
rs140326236
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.11008G>A (p.Glu3670Lys)
|
rs140548353
|
0.00008
|
NM_000117.3(EMD):c.400-9C>T
|
rs782061626
|
0.00007
|
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln)
|
rs147125175
|
0.00007
|
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His)
|
rs374255381
|
0.00007
|
NM_000257.4(MYH7):c.114C>T (p.Phe38=)
|
rs146210693
|
0.00007
|
NM_000363.5(TNNI3):c.373-4C>G
|
rs2288530
|
0.00007
|
NM_000601.6(HGF):c.1832G>C (p.Ser611Thr)
|
rs141774517
|
0.00007
|
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His)
|
rs397516723
|
0.00007
|
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)
|
rs373797219
|
0.00007
|
NM_001199799.2(ILDR1):c.1324C>T (p.Arg442Cys)
|
rs141559449
|
0.00007
|
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=)
|
rs541125667
|
0.00007
|
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr)
|
rs374419129
|
0.00007
|
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=)
|
rs183047238
|
0.00007
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00007
|
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)
|
rs375398118
|
0.00007
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00007
|
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala)
|
rs191300661
|
0.00007
|
NM_002473.6(MYH9):c.2719A>G (p.Thr907Ala)
|
rs754354210
|
0.00007
|
NM_002473.6(MYH9):c.5151-4G>A
|
rs368125656
|
0.00007
|
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu)
|
rs373669861
|
0.00007
|
NM_022124.6(CDH23):c.996G>A (p.Thr332=)
|
rs727504715
|
0.00007
|
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr)
|
rs199689484
|
0.00007
|
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)
|
rs147576338
|
0.00007
|
NM_000218.3(KCNQ1):c.225T>C (p.Val75=)
|
rs367817352
|
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.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00006
|
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)
|
rs765895405
|
0.00006
|
NM_000260.4(MYO7A):c.3503+9C>T
|
rs1481745974
|
0.00006
|
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg)
|
rs781713344
|
0.00006
|
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=)
|
rs200868190
|
0.00006
|
NM_000337.6(SGCD):c.69C>T (p.Tyr23=)
|
rs397517923
|
0.00006
|
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu)
|
rs200511789
|
0.00006
|
NM_000601.6(HGF):c.1814C>T (p.Thr605Ile)
|
rs147075806
|
0.00006
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
NM_001018008.2(TPM1):c.695G>A (p.Arg232His)
|
rs730881128
|
0.00006
|
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu)
|
rs199696688
|
0.00006
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met)
|
rs368151971
|
0.00006
|
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)
|
rs72677247
|
0.00006
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
NM_001267550.2(TTN):c.68208T>A (p.Val22736=)
|
rs727503575
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu)
|
rs200406978
|
0.00006
|
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)
|
rs727504793
|
0.00006
|
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp)
|
rs2288326
|
0.00006
|
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)
|
rs202011992
|
0.00006
|
NM_001292063.2(OTOG):c.5813C>T (p.Thr1938Met)
|
rs758489218
|
0.00006
|
NM_001379180.1(ESRRB):c.924C>A (p.Gly308=)
|
rs148356050
|
0.00006
|
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)
|
rs533251927
|
0.00006
|
NM_002471.4(MYH6):c.3787G>A (p.Val1263Met)
|
rs375819633
|
0.00006
|
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)
|
rs141140214
|
0.00006
|
NM_003673.4(TCAP):c.132C>T (p.Asp44=)
|
rs397516861
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser)
|
rs149773722
|
0.00006
|
NM_004568.6(SERPINB6):c.379G>A (p.Val127Ile)
|
rs146252067
|
0.00006
|
NM_005422.4(TECTA):c.6401C>T (p.Thr2134Met)
|
rs372282487
|
0.00006
|
NM_006005.3(WFS1):c.1392C>T (p.Thr464=)
|
rs565697340
|
0.00006
|
NM_006005.3(WFS1):c.2359G>A (p.Ala787Thr)
|
rs571946670
|
0.00006
|
NM_015340.4(LARS2):c.763G>A (p.Ala255Thr)
|
rs201911936
|
0.00006
|
NM_016239.4(MYO15A):c.4484C>T (p.Thr1495Met)
|
rs760534158
|
0.00006
|
NM_016366.3(CABP2):c.345C>A (p.Thr115=)
|
rs376093439
|
0.00006
|
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)
|
rs397517321
|
0.00006
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln)
|
rs534266547
|
0.00006
|
NM_170707.4(LMNA):c.1381-6C>T
|
rs371635492
|
0.00006
|
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys)
|
rs574277214
|
0.00006
|
NM_206933.4(USH2A):c.1143+12C>T
|
rs727505167
|
0.00006
|
NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn)
|
rs972796332
|
0.00005
|
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp)
|
rs200817090
|
0.00005
|
NM_000260.4(MYO7A):c.5169-6C>T
|
rs768594224
|
0.00005
|
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu)
|
rs368351103
|
0.00005
|
NM_001005242.3(PKP2):c.1379-2072C>T
|
rs758950276
|
0.00005
|
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg)
|
rs201047984
|
0.00005
|
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=)
|
rs749163517
|
0.00005
|
NM_001199799.2(ILDR1):c.1160C>G (p.Ser387Cys)
|
rs746732835
|
0.00005
|
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys)
|
rs375103237
|
0.00005
|
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)
|
rs199576800
|
0.00005
|
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=)
|
rs370903846
|
0.00005
|
NM_001267550.2(TTN):c.47196G>C (p.Val15732=)
|
rs369979598
|
0.00005
|
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=)
|
rs374672630
|
0.00005
|
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=)
|
rs727504857
|
0.00005
|
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr)
|
rs777809121
|
0.00005
|
NM_001378609.3(OTOGL):c.3184A>T (p.Ile1062Phe)
|
rs188793584
|
0.00005
|
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=)
|
rs539688337
|
0.00005
|
NM_004006.3(DMD):c.145C>T (p.Arg49Cys)
|
rs147548697
|
0.00005
|
NM_004415.4(DSP):c.643G>A (p.Glu215Lys)
|
rs148095061
|
0.00005
|
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu)
|
rs375306400
|
0.00005
|
NM_022124.6(CDH23):c.5481G>T (p.Gly1827=)
|
rs375545532
|
0.00005
|
NM_024747.6(HPS6):c.455C>T (p.Ser152Leu)
|
rs369112226
|
0.00005
|
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu)
|
rs202220799
|
0.00005
|
NM_031475.3(ESPN):c.2027C>G (p.Thr676Arg)
|
rs771737095
|
0.00005
|
NM_147196.3(TMIE):c.366T>G (p.Asp122Glu)
|
rs370899710
|
0.00005
|
NM_153700.2(STRC):c.4903G>T (p.Val1635Phe)
|
rs2915791
|
0.00005
|
NM_206933.4(USH2A):c.11443A>G (p.Ser3815Gly)
|
rs149527139
|
0.00005
|
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)
|
rs200276882
|
0.00005
|
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met)
|
rs371061770
|
0.00004
|
NM_000363.5(TNNI3):c.372+7C>T
|
rs367809676
|
0.00004
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
NM_000601.6(HGF):c.2179C>T (p.Gln727Ter)
|
rs140790665
|
0.00004
|
NM_001035.3(RYR2):c.4160+7A>G
|
rs377465289
|
0.00004
|
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln)
|
rs200850285
|
0.00004
|
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr)
|
rs774276326
|
0.00004
|
NM_001105206.3(LAMA4):c.412C>T (p.His138Tyr)
|
rs727503113
|
0.00004
|
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)
|
rs370618537
|
0.00004
|
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln)
|
rs530537991
|
0.00004
|
NM_001267550.2(TTN):c.11063T>C (p.Phe3688Ser)
|
rs377296133
|
0.00004
|
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=)
|
rs727503660
|
0.00004
|
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met)
|
rs201046911
|
0.00004
|
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)
|
rs377556808
|
0.00004
|
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=)
|
rs727504579
|
0.00004
|
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=)
|
rs191854953
|
0.00004
|
NM_001267550.2(TTN):c.30088C>T (p.Pro10030Ser)
|
rs368531555
|
0.00004
|
NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg)
|
rs541811273
|
0.00004
|
NM_001267550.2(TTN):c.597A>G (p.Val199=)
|
rs144214844
|
0.00004
|
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile)
|
rs368716894
|
0.00004
|
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe)
|
rs374736305
|
0.00004
|
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)
|
rs377220635
|
0.00004
|
NM_001267550.2(TTN):c.75969T>C (p.Val25323=)
|
rs368759398
|
0.00004
|
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)
|
rs397517725
|
0.00004
|
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=)
|
rs368270588
|
0.00004
|
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=)
|
rs397517736
|
0.00004
|
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=)
|
rs727504439
|
0.00004
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
NM_001330691.3(CEP78):c.2107+10C>G
|
rs374257343
|
0.00004
|
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=)
|
rs750087396
|
0.00004
|
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr)
|
rs760068474
|
0.00004
|
NM_001384474.1(LOXHD1):c.3061+8G>T
|
rs764128579
|
0.00004
|
NM_001614.5(ACTG1):c.81C>T (p.Pro27=)
|
rs11549230
|
0.00004
|
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)
|
rs755456119
|
0.00004
|
NM_004086.3(COCH):c.971G>A (p.Arg324Gln)
|
rs748731866
|
0.00004
|
NM_004230.4(S1PR2):c.955G>A (p.Gly319Arg)
|
rs139097585
|
0.00004
|
NM_004447.6(EPS8):c.646C>G (p.Pro216Ala)
|
rs201875630
|
0.00004
|
NM_004568.6(SERPINB6):c.460T>G (p.Ser154Ala)
|
rs727503416
|
0.00004
|
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val)
|
rs760917490
|
0.00004
|
NM_006005.3(WFS1):c.1237T>G (p.Phe413Val)
|
rs71524356
|
0.00004
|
NM_006005.3(WFS1):c.1743C>T (p.Gly581=)
|
rs377539343
|
0.00004
|
NM_006005.3(WFS1):c.375C>T (p.Thr125=)
|
rs762324196
|
0.00004
|
NM_007078.3(LDB3):c.689+3861C>T
|
rs754704023
|
0.00004
|
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val)
|
rs144770680
|
0.00004
|
NM_015404.4(WHRN):c.1417-8G>A
|
rs202228471
|
0.00004
|
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile)
|
rs373552185
|
0.00004
|
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=)
|
rs370047914
|
0.00004
|
NM_022124.6(CDH23):c.1584C>T (p.Arg528=)
|
rs397517309
|
0.00004
|
NM_022124.6(CDH23):c.1665C>T (p.Asn555=)
|
rs397517310
|
0.00004
|
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu)
|
rs537971045
|
0.00004
|
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=)
|
rs568741210
|
0.00004
|
NM_024915.4(GRHL2):c.1348T>A (p.Ser450Thr)
|
rs141136371
|
0.00004
|
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser)
|
rs576429729
|
0.00004
|
NM_032578.4(MYPN):c.3416G>A (p.Arg1139His)
|
rs531222847
|
0.00004
|
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn)
|
rs727503364
|
0.00004
|
NM_033118.4(MYLK2):c.417C>T (p.Ala139=)
|
rs560951755
|
0.00004
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
NM_133261.3(GIPC3):c.213C>A (p.Ile71=)
|
rs876657467
|
0.00004
|
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys)
|
rs776361113
|
0.00004
|
NM_144573.4(NEXN):c.249G>A (p.Glu83=)
|
rs372532824
|
0.00004
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
NM_206933.4(USH2A):c.11121G>T (p.Lys3707Asn)
|
rs111033515
|
0.00004
|
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)
|
rs727505170
|
0.00004
|
NM_206933.4(USH2A):c.4126T>C (p.Tyr1376His)
|
rs374449657
|
0.00004
|
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)
|
rs760977747
|
0.00004
|
NM_000169.3(GLA):c.714T>C (p.Ser238=)
|
rs397515872
|
0.00003
|
NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile)
|
rs542350927
|
0.00003
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
NM_000260.4(MYO7A):c.1606G>A (p.Ala536Thr)
|
rs201046979
|
0.00003
|
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=)
|
rs376743356
|
0.00003
|
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)
|
rs111033511
|
0.00003
|
NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr)
|
rs374618872
|
0.00003
|
NM_000395.3(CSF2RB):c.1107C>G (p.Asp369Glu)
|
rs139685237
|
0.00003
|
NM_001005242.3(PKP2):c.611G>A (p.Arg204His)
|
rs755215178
|
0.00003
|
NM_001039141.3(TRIOBP):c.5782A>G (p.Ile1928Val)
|
rs781135139
|
0.00003
|
NM_001105206.3(LAMA4):c.1444A>G (p.Asn482Asp)
|
rs782319667
|
0.00003
|
NM_001105206.3(LAMA4):c.997G>A (p.Ala333Thr)
|
rs576711704
|
0.00003
|
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=)
|
rs751902051
|
0.00003
|
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)
|
rs747240394
|
0.00003
|
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)
|
rs374408615
|
0.00003
|
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)
|
rs727503622
|
0.00003
|
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=)
|
rs727505248
|
0.00003
|
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile)
|
rs567781604
|
0.00003
|
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=)
|
rs200864020
|
0.00003
|
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)
|
rs553313488
|
0.00003
|
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr)
|
rs558670891
|
0.00003
|
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile)
|
rs150930737
|
0.00003
|
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=)
|
rs200809116
|
0.00003
|
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val)
|
rs141749060
|
0.00003
|
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn)
|
rs370509593
|
0.00003
|
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)
|
rs727504783
|
0.00003
|
NM_001943.5(DSG2):c.84C>G (p.Val28=)
|
rs397516711
|
0.00003
|
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)
|
rs374061873
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_004281.4(BAG3):c.781C>T (p.Arg261Trp)
|
rs548032105
|
0.00003
|
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser)
|
rs397517142
|
0.00003
|
NM_006005.3(WFS1):c.143C>T (p.Ala48Val)
|
rs397517195
|
0.00003
|
NM_006005.3(WFS1):c.1769C>T (p.Thr590Met)
|
rs760280308
|
0.00003
|
NM_006073.4(TRDN):c.592A>G (p.Thr198Ala)
|
rs952211002
|
0.00003
|
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)
|
rs372331627
|
0.00003
|
NM_012208.4(HARS2):c.1515G>T (p.Glu505Asp)
|
rs370053420
|
0.00003
|
NM_016239.4(MYO15A):c.7762C>T (p.Arg2588Trp)
|
rs778098806
|
0.00003
|
NM_022124.6(CDH23):c.1543A>G (p.Ile515Val)
|
rs727504914
|
0.00003
|
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=)
|
rs111033490
|
0.00003
|
NM_022124.6(CDH23):c.5051G>C (p.Arg1684Pro)
|
rs111033475
|
0.00003
|
NM_022124.6(CDH23):c.535G>A (p.Ala179Thr)
|
rs371422466
|
0.00003
|
NM_024009.3(GJB3):c.589G>A (p.Val197Ile)
|
rs376506263
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met)
|
rs375258567
|
0.00003
|
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile)
|
rs764987437
|
0.00003
|
NM_057176.3(BSND):c.917T>C (p.Leu306Pro)
|
rs139049536
|
0.00003
|
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys)
|
rs148443938
|
0.00003
|
NM_144991.3(TSPEAR):c.41C>T (p.Ala14Val)
|
rs140778310
|
0.00003
|
NM_153700.2(STRC):c.4237A>T (p.Thr1413Ser)
|
rs754834213
|
0.00003
|
NM_170707.4(LMNA):c.78C>T (p.Ile26=)
|
rs373721390
|
0.00003
|
NM_194248.3(OTOF):c.1713G>A (p.Leu571=)
|
rs397517935
|
0.00003
|
NM_194248.3(OTOF):c.4783G>A (p.Ala1595Thr)
|
rs772763082
|
0.00003
|
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)
|
rs397517969
|
0.00003
|
NM_206933.4(USH2A):c.4958G>A (p.Arg1653Gln)
|
rs372436408
|
0.00003
|
NM_206933.4(USH2A):c.7451+3G>A
|
rs397518030
|
0.00003
|
NM_000169.3(GLA):c.320A>G (p.Gln107Arg)
|
rs727505060
|
0.00002
|
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)
|
rs750409379
|
0.00002
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=)
|
rs727503181
|
0.00002
|
NM_000260.4(MYO7A):c.3583G>A (p.Val1195Met)
|
rs781958107
|
0.00002
|
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)
|
rs372535399
|
0.00002
|
NM_000335.5(SCN5A):c.2039G>A (p.Arg680His)
|
rs199473142
|
0.00002
|
NM_000432.4(MYL2):c.355G>A (p.Val119Ile)
|
rs730880940
|
0.00002
|
NM_001042545.2(LTBP4):c.1158G>A (p.Glu386=)
|
rs1015435132
|
0.00002
|
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser)
|
rs1479765434
|
0.00002
|
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile)
|
rs727503679
|
0.00002
|
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=)
|
rs727504677
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00002
|
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=)
|
rs398124450
|
0.00002
|
NM_001267550.2(TTN):c.49701A>G (p.Ser16567=)
|
rs369646977
|
0.00002
|
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)
|
rs727503693
|
0.00002
|
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)
|
rs727505101
|
0.00002
|
NM_001267550.2(TTN):c.63558G>A (p.Val21186=)
|
rs200261892
|
0.00002
|
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=)
|
rs397517657
|
0.00002
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)
|
rs746956869
|
0.00002
|
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr)
|
rs727505036
|
0.00002
|
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp)
|
rs563233842
|
0.00002
|
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser)
|
rs727503564
|
0.00002
|
NM_001267550.2(TTN):c.732C>T (p.Ala244=)
|
rs761859812
|
0.00002
|
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)
|
rs565784637
|
0.00002
|
NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile)
|
rs746222222
|
0.00002
|
NM_001267550.2(TTN):c.9306-4A>G
|
rs757164431
|
0.00002
|
NM_001330691.3(CEP78):c.120G>C (p.Glu40Asp)
|
rs746861398
|
0.00002
|
NM_001368067.1(LDB3):c.456G>A (p.Ala152=)
|
rs371708921
|
0.00002
|
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg)
|
rs727504953
|
0.00002
|
NM_002880.4(RAF1):c.639T>C (p.Thr213=)
|
rs397516823
|
0.00002
|
NM_004333.6(BRAF):c.*7T>C
|
rs727502903
|
0.00002
|
NM_005379.4(MYO1A):c.2141G>A (p.Arg714His)
|
rs369452147
|
0.00002
|
NM_006005.3(WFS1):c.1290G>A (p.Ser430=)
|
rs752100338
|
0.00002
|
NM_006012.4(CLPP):c.15A>G (p.Ile5Met)
|
rs763687804
|
0.00002
|
NM_015404.4(WHRN):c.1360G>A (p.Val454Ile)
|
rs370178817
|
0.00002
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
NM_030662.4(MAP2K2):c.450+14G>A
|
rs397517414
|
0.00002
|
NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile)
|
rs768299251
|
0.00002
|
NM_032119.4(ADGRV1):c.21A>C (p.Pro7=)
|
rs727504831
|
0.00002
|
NM_080680.3(COL11A2):c.3529-3C>T
|
rs753183777
|
0.00002
|
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=)
|
rs752823488
|
0.00002
|
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser)
|
rs397517834
|
0.00002
|
NM_170707.4(LMNA):c.1185G>A (p.Ser395=)
|
rs397517890
|
0.00002
|
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)
|
rs397517966
|
0.00002
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
NM_000169.3(GLA):c.801+14C>T
|
rs200744672
|
0.00001
|
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly)
|
rs373164247
|
0.00001
|
NM_000256.3(MYBPC3):c.166G>A (p.Gly56Ser)
|
rs397515918
|
0.00001
|
NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr)
|
rs727504945
|
0.00001
|
NM_000257.4(MYH7):c.2472C>T (p.Val824=)
|
rs397516150
|
0.00001
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00001
|
NM_000260.4(MYO7A):c.2382C>T (p.Phe794=)
|
rs970183279
|
0.00001
|
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)
|
rs397516309
|
0.00001
|
NM_000335.5(SCN5A):c.1538G>A (p.Arg513His)
|
rs397517951
|
0.00001
|
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=)
|
rs751050999
|
0.00001
|
NM_000337.6(SGCD):c.45T>A (p.Pro15=)
|
rs727505092
|
0.00001
|
NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met)
|
rs727503158
|
0.00001
|
NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn)
|
rs781919095
|
0.00001
|
NM_001122659.3(EDNRB):c.1194+15C>T
|
rs886050325
|
0.00001
|
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu)
|
rs770886605
|
0.00001
|
NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=)
|
rs369318229
|
0.00001
|
NM_001267550.2(TTN):c.104126G>A (p.Arg34709His)
|
rs574420969
|
0.00001
|
NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg)
|
rs727504465
|
0.00001
|
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=)
|
rs373963067
|
0.00001
|
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=)
|
rs727504776
|
0.00001
|
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr)
|
rs370728359
|
0.00001
|
NM_001267550.2(TTN):c.23178G>A (p.Ser7726=)
|
rs753546095
|
0.00001
|
NM_001267550.2(TTN):c.2649C>T (p.Phe883=)
|
rs775588479
|
0.00001
|
NM_001267550.2(TTN):c.30022A>G (p.Met10008Val)
|
rs1553877757
|
0.00001
|
NM_001267550.2(TTN):c.34734A>G (p.Val11578=)
|
rs866407525
|
0.00001
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
NM_001267550.2(TTN):c.53625A>G (p.Thr17875=)
|
rs373277508
|
0.00001
|
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=)
|
rs727504980
|
0.00001
|
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)
|
rs374509926
|
0.00001
|
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=)
|
rs368530092
|
0.00001
|
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=)
|
rs773001228
|
0.00001
|
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=)
|
rs369444690
|
0.00001
|
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=)
|
rs371678936
|
0.00001
|
NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile)
|
rs727505024
|
0.00001
|
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=)
|
rs727504528
|
0.00001
|
NM_001267550.2(TTN):c.9434G>A (p.Arg3145Lys)
|
rs727503682
|
0.00001
|
NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys)
|
rs761050391
|
0.00001
|
NM_001276345.2(TNNT2):c.200-4C>G
|
rs397516448
|
0.00001
|
NM_001292063.2(OTOG):c.5303A>G (p.Glu1768Gly)
|
rs876657555
|
0.00001
|
NM_002473.6(MYH9):c.11A>G (p.Gln4Arg)
|
rs773960235
|
0.00001
|
NM_004281.4(BAG3):c.465A>G (p.Ala155=)
|
rs775151738
|
0.00001
|
NM_004415.4(DSP):c.145A>G (p.Thr49Ala)
|
rs142059019
|
0.00001
|
NM_005379.4(MYO1A):c.522C>T (p.Leu174=)
|
rs561295735
|
0.00001
|
NM_005422.4(TECTA):c.1572C>T (p.Cys524=)
|
rs767426110
|
0.00001
|
NM_005548.3(KARS1):c.1184A>G (p.Asn395Ser)
|
rs780462719
|
0.00001
|
NM_006005.3(WFS1):c.125G>A (p.Arg42Gln)
|
rs750806151
|
0.00001
|
NM_006005.3(WFS1):c.2454C>T (p.Arg818=)
|
rs139223980
|
0.00001
|
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr)
|
rs749520121
|
0.00001
|
NM_014000.3(VCL):c.2852C>G (p.Pro951Arg)
|
rs368570586
|
0.00001
|
NM_015404.4(WHRN):c.376G>A (p.Ala126Thr)
|
rs1444564272
|
0.00001
|
NM_016203.4(PRKAG2):c.42T>A (p.Val14=)
|
rs141316327
|
0.00001
|
NM_022124.6(CDH23):c.10033A>C (p.Met3345Leu)
|
rs368597074
|
0.00001
|
NM_022124.6(CDH23):c.3151G>A (p.Val1051Ile)
|
rs876657439
|
0.00001
|
NM_022124.6(CDH23):c.6196C>T (p.Arg2066Trp)
|
rs111033489
|
0.00001
|
NM_022124.6(CDH23):c.9738+6C>T
|
rs727504562
|
0.00001
|
NM_024422.6(DSC2):c.267G>A (p.Ser89=)
|
rs201363937
|
0.00001
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
NM_032119.4(ADGRV1):c.10066A>G (p.Ile3356Val)
|
rs727503078
|
0.00001
|
NM_032119.4(ADGRV1):c.14185G>A (p.Asp4729Asn)
|
rs778820230
|
0.00001
|
NM_032119.4(ADGRV1):c.17512G>A (p.Val5838Ile)
|
rs727504913
|
0.00001
|
NM_032119.4(ADGRV1):c.222C>T (p.Asp74=)
|
rs181146384
|
0.00001
|
NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln)
|
rs766225545
|
0.00001
|
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=)
|
rs369910075
|
0.00001
|
NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=)
|
rs397517442
|
0.00001
|
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val)
|
rs759038879
|
0.00001
|
NM_080680.3(COL11A2):c.3878G>A (p.Arg1293Gln)
|
rs727504832
|
0.00001
|
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile)
|
rs184603559
|
0.00001
|
NM_170707.4(LMNA):c.1488+8G>A
|
rs762836610
|
0.00001
|
NM_170707.4(LMNA):c.1773C>T (p.Cys591=)
|
rs397517897
|
0.00001
|
NM_194248.3(OTOF):c.5712+6C>G
|
rs200435099
|
0.00001
|
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val)
|
rs727505097
|
0.00001
|
NM_206933.4(USH2A):c.13622A>C (p.Gln4541Pro)
|
rs143032902
|
0.00001
|
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met)
|
rs727504686
|
0.00001
|
NM_206933.4(USH2A):c.4313G>A (p.Arg1438Lys)
|
rs876657627
|
0.00001
|
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val)
|
rs397518017
|
0.00001
|
NM_206933.4(USH2A):c.553A>G (p.Met185Val)
|
rs770266757
|
0.00001
|
NM_206933.4(USH2A):c.8098G>A (p.Val2700Ile)
|
rs778655083
|
0.00001
|
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys)
|
rs559922535
|
0.00001
|
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr)
|
rs200761108
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu)
|
rs12720449
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)
|
rs397516009
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala)
|
rs727505267
|
|
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile)
|
rs727503262
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
NM_000260.4(MYO7A):c.1343+8G>T
|
rs2276278
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.4153-8C>G
|
rs143216377
|
|
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=)
|
rs111033287
|
|
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=)
|
rs200334972
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
NM_000492.4(CFTR):c.489+8T>C
|
rs727504712
|
|
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg)
|
rs397516998
|
|
NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val)
|
rs727503116
|
|
NM_001105206.3(LAMA4):c.140C>T (p.Pro47Leu)
|
rs727503115
|
|
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile)
|
rs77132068
|
|
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)
|
rs374353052
|
|
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=)
|
rs776968811
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr)
|
rs147356378
|
|
NM_001145809.2(MYH14):c.1625T>G (p.Leu542Arg)
|
rs727504564
|
|
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn)
|
rs876657540
|
|
NM_001190417.2(ZNF674):c.975_976del (p.His325_Ile326insTer)
|
rs778073001
|
|
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del)
|
rs555444131
|
|
NM_001199799.2(ILDR1):c.661C>T (p.Arg221Cys)
|
rs182963279
|
|
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)
|
rs72554069
|
|
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)
|
rs397516641
|
|
NM_001232.4(CASQ2):c.421-15C>G
|
rs199939582
|
|
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu)
|
rs150397427
|
|
NM_001267550.2(TTN):c.1398+4C>T
|
rs368548209
|
|
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del)
|
rs727503701
|
|
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=)
|
rs149523263
|
|
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=)
|
rs749823104
|
|
NM_001267550.2(TTN):c.2761G>A (p.Gly921Arg)
|
rs774924294
|
|
NM_001267550.2(TTN):c.31762+5_31762+7del
|
rs397517538
|
|
NM_001267550.2(TTN):c.32515G>T (p.Ala10839Ser)
|
rs727503635
|
|
NM_001267550.2(TTN):c.32954G>A (p.Arg10985Gln)
|
rs181395238
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
NM_001267550.2(TTN):c.34708+9G>T
|
rs397517551
|
|
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile)
|
rs200778464
|
|
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del)
|
rs771898264
|
|
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)
|
rs370687831
|
|
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)
|
rs397517660
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)
|
rs397517731
|
|
NM_001267550.2(TTN):c.94524T>C (p.Asp31508=)
|
rs727505200
|
|
NM_001267550.2(TTN):c.98721C>T (p.Leu32907=)
|
rs375361462
|
|
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)
|
rs140245123
|
|
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr)
|
rs191354103
|
|
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met)
|
rs572886375
|
|
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His)
|
rs766229978
|
|
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)
|
rs202020443
|
|
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
NM_001368067.1(LDB3):c.456G>T (p.Ala152=)
|
rs371708921
|
|
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu)
|
rs386789728
|
|
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)
|
rs115444326
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)
|
rs759237437
|
|
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser)
|
rs539278802
|
|
NM_001614.5(ACTG1):c.985-5dup
|
rs782289893
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
NM_001927.4(DES):c.1404A>G (p.Glu468=)
|
rs397516691
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
NM_001943.5(DSG2):c.829-4G>A
|
rs376424003
|
|
NM_002473.6(MYH9):c.5483+4C>T
|
rs56327920
|
|
NM_002834.5(PTPN11):c.1448-5C>T
|
rs554790621
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
NM_003476.5(CSRP3):c.334G>C (p.Ala112Pro)
|
rs727504905
|
|
NM_004006.3(DMD):c.2827C>A (p.Arg943Ser)
|
rs199986217
|
|
NM_004333.6(BRAF):c.111G>A (p.Ser37=)
|
rs727502906
|
|
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2])
|
rs397507458
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])
|
rs397516971
|
|
NM_004612.4(TGFBR1):c.1387-4G>A
|
rs397517031
|
|
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)
|
rs189809247
|
|
NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg)
|
rs370617353
|
|
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu)
|
rs148619105
|
|
NM_005633.3(SOS1):c.2511-9dup
|
rs727503436
|
|
NM_006005.3(WFS1):c.2370G>C (p.Ser790=)
|
rs150936382
|
|
NM_006005.3(WFS1):c.2580C>T (p.His860=)
|
rs754802246
|
|
NM_006005.3(WFS1):c.654C>T (p.Pro218=)
|
rs727504666
|
|
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)
|
rs146275785
|
|
NM_012208.4(HARS2):c.1439G>T (p.Arg480Leu)
|
rs200089613
|
|
NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del)
|
rs145997327
|
|
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg)
|
rs200342284
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014391.3(ANKRD1):c.154C>T (p.Pro52Ser)
|
rs397517248
|
|
NM_014391.3(ANKRD1):c.346-17_346-10del
|
rs397517250
|
|
NM_015404.4(WHRN):c.2333G>A (p.Arg778Gln)
|
rs727505188
|
|
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys)
|
rs150586098
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
NM_016239.4(MYO15A):c.3122C>A (p.Pro1041His)
|
rs200587502
|
|
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser)
|
rs200355614
|
|
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser)
|
rs397517289
|
|
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His)
|
rs143918373
|
|
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=)
|
rs372169216
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.572G>A (p.Arg191Gln)
|
rs372588663
|
|
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del)
|
rs727503069
|
|
NM_030662.4(MAP2K2):c.49A>G (p.Thr17Ala)
|
rs397517415
|
|
NM_032119.4(ADGRV1):c.1049C>A (p.Thr350Asn)
|
rs727504607
|
|
NM_032119.4(ADGRV1):c.13714A>T (p.Ile4572Phe)
|
rs727503082
|
|
NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu)
|
rs201747452
|
|
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)
|
rs41311335
|
|
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His)
|
rs41303352
|
|
NM_032119.4(ADGRV1):c.8198G>T (p.Arg2733Leu)
|
rs749383906
|
|
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
|
rs397517462
|
|
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup)
|
rs397517466
|
|
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del)
|
rs397517467
|
|
NM_033118.4(MYLK2):c.254G>A (p.Gly85Glu)
|
rs727505328
|
|
NM_133261.3(GIPC3):c.821C>T (p.Ala274Val)
|
rs149028750
|
|
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6])
|
rs397517815
|
|
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
NM_170707.4(LMNA):c.1122C>T (p.His374=)
|
rs143715750
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.346C>T (p.Leu116=)
|
rs876657491
|
|
NM_178335.3(CCDC50):c.1231C>T (p.Pro411Ser)
|
rs138707536
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu)
|
rs35309576
|
|
NM_206933.4(USH2A):c.12624C>A (p.Asp4208Glu)
|
rs375223901
|
|
NM_206933.4(USH2A):c.13222G>A (p.Val4408Ile)
|
rs111033500
|
|
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg)
|
rs397517987
|
|
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)
|
rs727505155
|
|
NM_206933.4(USH2A):c.2880T>C (p.Asn960=)
|
rs151177516
|
|
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=)
|
rs397518025
|
|
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
|
rs542406401
|
|
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu)
|
rs138959688
|
|
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His)
|
rs189748047
|
|
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=)
|
rs397518040
|
|