ClinVar Miner

List of variants reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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ClinVar version:
Total variants: 7688
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HGVS dbSNP gnomAD frequency
NM_001371928.1(AHDC1):c.100A>C (p.Thr34Pro) rs758473342 0.32198
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val) rs12994774 0.09975
NM_000569.8(FCGR3A):c.197T>A (p.Leu66His) rs10127939 0.04855
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_177438.3(DICER1):c.-45-4405C>T rs140969547 0.01032
NM_024867.4(SPEF2):c.3802-8G>A rs138022749 0.00682
NM_024867.4(SPEF2):c.1262G>A (p.Arg421His) rs139580877 0.00656
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr) rs139512218 0.00510
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) rs56314834 0.00406
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_181078.3(IL21R):c.137C>T (p.Thr46Met) rs137946070 0.00360
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062 0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164 0.00299
NM_004985.5(KRAS):c.-178C>A rs190218019 0.00296
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys) rs112892337 0.00217
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_001105206.3(LAMA4):c.195+131C>G rs138579810 0.00210
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_013390.3(CEMIP2):c.491A>T (p.Asp164Val) rs146439095 0.00207
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_001330691.3(CEP78):c.1846-1G>C rs146563928 0.00193
NM_198488.5(FAM83H):c.601C>T (p.Gln201Ter) rs189033490 0.00189
NM_153676.4(USH1C):c.2014-1G>A rs150567427 0.00183
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val) rs397516635 0.00180
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn) rs200592310 0.00176
NM_005450.6(NOG):c.275G>A (p.Gly92Glu) rs199566527 0.00175
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332 0.00172
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239 0.00170
NM_033118.4(MYLK2):c.791C>T (p.Pro264Leu) rs142620954 0.00165
NM_001232.4(CASQ2):c.421-14G>A rs139281637 0.00159
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg) rs183969516 0.00158
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_001267550.2(TTN):c.11254+2T>C rs199565715 0.00147
NM_001365308.1(BMPER):c.220A>G (p.Asn74Asp) rs144030074 0.00147
NM_144991.3(TSPEAR):c.1566+5G>A rs117034581 0.00147
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg) rs148701985 0.00146
NM_004817.4(TJP2):c.61-6A>T rs200415824 0.00145
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) rs767328866 0.00145
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys) rs202040332 0.00144
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553 0.00141
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_003002.4(SDHD):c.*822T>C rs201472512 0.00133
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) rs578191491 0.00131
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg) rs200243235 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_005992.1(TBX1):c.1010-3495C>T rs72646973 0.00124
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_001127217.3(SMAD9):c.65T>C (p.Leu22Pro) rs111748421 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197 0.00110
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys) rs764467903 0.00110
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230 0.00109
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) rs140505857 0.00109
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met) rs35090700 0.00107
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp) rs140948493 0.00107
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_201253.3(CRB1):c.484G>A (p.Val162Met) rs137853138 0.00106
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile) rs149001418 0.00104
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940 0.00103
NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly) rs370149278 0.00103
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791 0.00102
NM_006785.4(MALT1):c.-35G>A rs545006385 0.00102
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_021167.5(GATAD1):c.96T>G (p.His32Gln) rs532003876 0.00099
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_017837.4(PIGV):c.349A>G (p.Ile117Val) rs142192097 0.00097
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His) rs111727915 0.00096
NM_032578.4(MYPN):c.65C>G (p.Ala22Gly) rs145142157 0.00096
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr) rs149941106 0.00095
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala) rs146511800 0.00094
NM_002003.5(FCN1):c.802T>C (p.Ser268Pro) rs150625869 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile) rs148164929 0.00092
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys) rs149763294 0.00091
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_002458.3(MUC5B):c.12581G>C (p.Ser4194Thr) rs201822010 0.00089
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys) rs116833707 0.00089
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile) rs139790668 0.00088
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr) rs184643087 0.00088
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001372106.1(DNAH10):c.901G>A (p.Ala301Thr) rs145614363 0.00088
NM_001379180.1(ESRRB):c.*1546C>T rs201448899 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_014588.6(VSX1):c.173C>T (p.Pro58Leu) rs369865672 0.00087
NM_003764.4(STX11):c.616G>A (p.Glu206Lys) rs145347140 0.00086
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys) rs183851734 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe) rs138153104 0.00086
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00085
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln) rs727503449 0.00085
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00084
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn) rs189910531 0.00084
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln) rs200459347 0.00083
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys) rs200445568 0.00083
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly) rs371719028 0.00083
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538 0.00083
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001130987.2(DYSF):c.3756+9G>T rs191746041 0.00081
NM_001277115.2(DNAH11):c.470G>A (p.Gly157Glu) rs185011953 0.00081
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_002473.6(MYH9):c.*8C>T rs201455315 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_005932.4(MIPEP):c.590T>C (p.Leu197Pro) rs150167906 0.00080
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser) rs139287714 0.00080
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506 0.00080
NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491 0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His) rs191802172 0.00078
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) rs200098356 0.00078
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_000236.3(LIPC):c.866C>T (p.Ser289Phe) rs121912502 0.00076
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val) rs146333579 0.00076
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr) rs373294263 0.00076
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351 0.00076
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu) rs117188693 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871 0.00074
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) rs143269044 0.00074
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466 0.00074
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237 0.00074
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001370259.2(MEN1):c.-22C>A rs374749001 0.00073
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499 0.00072
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg) rs138838276 0.00072
NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr) rs138804394 0.00071
NM_001039876.3(SYNE4):c.317A>C (p.Gln106Pro) rs200994810 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341 0.00071
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe) rs148781346 0.00071
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln) rs140913030 0.00071
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr) rs147314430 0.00071
NM_133379.5(TTN):c.16613G>A (p.Arg5538His) rs145932311 0.00071
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072 0.00070
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_002906.4(RDX):c.1468G>A (p.Asp490Asn) rs34471100 0.00070
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe) rs41310067 0.00070
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_001384474.1(LOXHD1):c.2998C>T (p.Arg1000Trp) rs199847981 0.00069
NM_002458.3(MUC5B):c.14573T>C (p.Met4858Thr) rs201272490 0.00069
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys) rs146419641 0.00069
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00069
NM_001378609.3(OTOGL):c.3172A>G (p.Arg1058Gly) rs201186191 0.00068
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562 0.00068
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) rs113067047 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln) rs146696590 0.00067
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00067
NM_004415.4(DSP):c.782C>T (p.Ala261Val) rs139509870 0.00067
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977 0.00067
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp) rs146257403 0.00067
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00067
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) rs148033154 0.00067
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521 0.00066
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_002923.4(RGS2):c.68G>A (p.Gly23Asp) rs148489044 0.00066
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054 0.00066
NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn) rs202084078 0.00066
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg) rs200550947 0.00065
NM_001384140.1(PCDH15):c.4526A>G (p.Gln1509Arg) rs115559383 0.00065
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362 0.00065
NM_001032283.3(TMPO):c.565+2149C>T rs34150443 0.00064
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811 0.00064
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00064
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) rs73036377 0.00064
NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp) rs114875104 0.00064
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688 0.00064
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041 0.00064
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418 0.00063
NM_000260.4(MYO7A):c.3750+5G>A rs111033391 0.00063
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn) rs112009206 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226 0.00063
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys) rs201618718 0.00063
NM_022114.4(PRDM16):c.2786C>A (p.Pro929His) rs145632008 0.00063
NM_147196.3(TMIE):c.40G>A (p.Gly14Ser) rs397517869 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr) rs373099440 0.00062
NM_001330.5(CTF1):c.274G>A (p.Ala92Thr) rs2234933 0.00062
NM_001384474.1(LOXHD1):c.4130G>A (p.Arg1377Gln) rs150095081 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_020297.4(ABCC9):c.2199-13G>A rs201226082 0.00062
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00061
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp) rs764159927 0.00061
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser) rs146175803 0.00061
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_057176.3(BSND):c.851G>A (p.Gly284Asp) rs150426464 0.00061
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu) rs140388347 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_001105206.3(LAMA4):c.196-15G>C rs371906362 0.00060
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_000260.4(MYO7A):c.4916C>T (p.Thr1639Met) rs200848641 0.00059
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_139281.3(WDR36):c.208G>A (p.Asp70Asn) rs115541547 0.00059
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352 0.00059
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_001032283.3(TMPO):c.565+2368G>A rs138295270 0.00058
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln) rs201418615 0.00058
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966 0.00058
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249 0.00058
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00058
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser) rs143345726 0.00058
NM_022114.4(PRDM16):c.38-14G>A rs368409902 0.00058
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628 0.00058
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala) rs202176504 0.00057
NM_001199799.2(ILDR1):c.461C>T (p.Ser154Leu) rs115649165 0.00057
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910 0.00057
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser) rs375308440 0.00057
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter) rs71454844 0.00057
NM_182548.4(LHFPL5):c.476G>A (p.Arg159His) rs139179263 0.00057
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys) rs200242497 0.00056
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro) rs117747744 0.00056
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00056
NM_016953.4(PDE11A):c.171del (p.Thr58fs) rs529789124 0.00056
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_020297.4(ABCC9):c.2770-13A>G rs184123387 0.00055
NM_022124.6(CDH23):c.1752+6G>A rs369013539 0.00055
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr) rs140614903 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly) rs201896662 0.00054
NM_001292063.2(OTOG):c.4770G>T (p.Arg1590Ser) rs147052893 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_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys) rs147011199 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000601.6(HGF):c.1891G>A (p.Val631Met) rs145494248 0.00053
NM_001005242.3(PKP2):c.1379-2054C>T rs144620127 0.00053
NM_001006630.2(CHRM2):c.860C>G (p.Thr287Ser) rs138193709 0.00053
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) rs150434290 0.00053
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser) rs121434431 0.00053
NM_015404.4(WHRN):c.2510G>A (p.Arg837His) rs55749855 0.00053
NM_133379.5(TTN):c.14812A>G (p.Met4938Val) rs145581345 0.00053
NM_001145809.2(MYH14):c.1919G>A (p.Arg640Gln) rs199696801 0.00052
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu) rs201035511 0.00052
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) rs147283064 0.00052
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu) rs200121200 0.00052
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly) rs143210369 0.00052
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862 0.00052
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806 0.00051
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser) rs397516621 0.00051
NM_001267550.2(TTN):c.33827-8C>T rs371318311 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) rs56391938 0.00051
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg) rs72648228 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_001292063.2(OTOG):c.2113A>G (p.Thr705Ala) rs562612507 0.00051
NM_001378609.3(OTOGL):c.6613G>T (p.Ala2205Ser) rs374634079 0.00051
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met) rs142512524 0.00051
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr) rs148530934 0.00051
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp) rs146522169 0.00051
NM_153700.2(STRC):c.4432A>C (p.Thr1478Pro) rs148736697 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464 0.00050
NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp) rs140567004 0.00050
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) rs144840779 0.00050
NM_206933.4(USH2A):c.8600C>T (p.Ser2867Leu) rs145468090 0.00050
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429 0.00049
NM_001035.3(RYR2):c.9450-3T>C rs188671846 0.00049
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp) rs149813580 0.00049
NM_020975.6(RET):c.-2C>A rs876657980 0.00049
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_001128228.3(TPRN):c.1906C>T (p.Arg636Trp) rs145556855 0.00048
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys) rs148223897 0.00048
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln) rs184153985 0.00048
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly) rs72646822 0.00048
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895 0.00048
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly) rs545257884 0.00048
NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr) rs564747350 0.00048
NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp) rs374664141 0.00048
NM_133261.3(GIPC3):c.*15G>A rs368944411 0.00048
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_001378609.3(OTOGL):c.3911A>T (p.His1304Leu) rs187723280 0.00047
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00047
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615 0.00047
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491 0.00046
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718 0.00046
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys) rs145897390 0.00046
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) rs140842479 0.00046
NM_001371333.1(DIABLO):c.315+6T>A rs370571609 0.00046
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu) rs138158369 0.00046
NM_004006.3(DMD):c.4072-245C>T rs140237546 0.00046
NM_005422.4(TECTA):c.2638A>G (p.Thr880Ala) rs143315827 0.00046
NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn) rs142143310 0.00046
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg) rs200843771 0.00046
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) rs200197273 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) rs200241993 0.00045
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_000514.4(GDNF):c.*5G>A rs145996577 0.00045
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00045
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784 0.00045
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914 0.00045
NM_022114.4(PRDM16):c.2576C>T (p.Ser859Leu) rs370046582 0.00045
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452 0.00045
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798 0.00045
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala) rs145183384 0.00045
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu) rs144182966 0.00045
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val) rs137868043 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys) rs199643269 0.00044
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_002458.3(MUC5B):c.2068A>G (p.Lys690Glu) rs376986344 0.00044
NM_002700.3(POU4F3):c.230A>G (p.Asp77Gly) rs138310635 0.00044
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln) rs11557669 0.00044
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu) rs202101019 0.00044
NM_024867.4(SPEF2):c.2390A>G (p.Asp797Gly) rs201730485 0.00044
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00044
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) rs41293104 0.00044
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00044
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys) rs147070644 0.00044
NM_000140.5(FECH):c.362A>G (p.Glu121Gly) rs141813907 0.00043
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412 0.00043
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser) rs145301300 0.00043
NM_001105206.3(LAMA4):c.967-15C>G rs375041786 0.00043
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His) rs200204761 0.00043
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_001384474.1(LOXHD1):c.2575C>T (p.Arg859Trp) rs372546084 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr) rs376220834 0.00043
NM_014391.3(ANKRD1):c.417C>A (p.Phe139Leu) rs201398260 0.00043
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_144991.3(TSPEAR):c.791-14G>C rs199699551 0.00043
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_001039141.3(TRIOBP):c.4666G>A (p.Glu1556Lys) rs376793698 0.00042
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00042
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001384474.1(LOXHD1):c.6524T>C (p.Phe2175Ser) rs546735322 0.00042
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val) rs144492050 0.00042
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser) rs72648909 0.00042
NM_144991.3(TSPEAR):c.418G>A (p.Ala140Thr) rs148967240 0.00042
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) rs146333270 0.00042
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910 0.00042
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320 0.00041
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) rs35548413 0.00041
NM_001031679.3(MSRB3):c.530C>T (p.Pro177Leu) rs144038296 0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001142864.4(PIEZO1):c.1107+1G>C rs199524784 0.00041
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val) rs201482015 0.00041
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met) rs200899806 0.00041
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu) rs202096200 0.00041
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_001354604.2(MITF):c.881-7T>A rs200580325 0.00041
NM_001371333.1(DIABLO):c.19T>A (p.Trp7Arg) rs139511903 0.00041
NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp) rs191608225 0.00041
NM_001384474.1(LOXHD1):c.6460G>A (p.Val2154Ile) rs182149228 0.00041
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915 0.00041
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) rs150815925 0.00041
NM_002471.4(MYH6):c.643-5C>T rs199859986 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_004447.6(EPS8):c.2177C>T (p.Thr726Ile) rs150904526 0.00041
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val) rs374355537 0.00041
NM_016203.4(PRKAG2):c.946+3A>G rs376173303 0.00041
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207 0.00041
NM_178452.6(DNAAF1):c.1990A>C (p.Thr664Pro) rs199680570 0.00041
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570 0.00040
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_007078.3(LDB3):c.-15G>A rs201865389 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg) rs141226759 0.00039
NM_001089.3(ABCA3):c.1549G>A (p.Glu517Lys) rs201157181 0.00039
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) rs150084275 0.00039
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn) rs141314684 0.00039
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln) rs200161147 0.00039
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057 0.00039
NM_001384474.1(LOXHD1):c.1868G>A (p.Arg623Lys) rs373151735 0.00039
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440 0.00039
NM_133379.5(TTN):c.13792C>T (p.Pro4598Ser) rs145996491 0.00039
NM_000044.6(AR):c.173A>T (p.Gln58Leu) rs200185441 0.00038
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674 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.11246-11del rs397516503 0.00038
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser) rs145522874 0.00038
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu) rs143919208 0.00038
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869 0.00038
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_153700.2(STRC):c.890A>G (p.Asn297Ser) rs876658011 0.00038
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu) rs141972928 0.00038
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280 0.00037
NM_001032283.3(TMPO):c.565+1848G>A rs34301677 0.00037
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00037
NM_001128840.3(CACNA1D):c.1477T>A (p.Cys493Ser) rs139380111 0.00037
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn) rs144880521 0.00037
NM_001943.5(DSG2):c.716T>C (p.Val239Ala) rs200997703 0.00037
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
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_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413 0.00036
NM_000260.4(MYO7A):c.6615G>A (p.Met2205Ile) rs200359303 0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His) rs115066564 0.00036
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr) rs144474773 0.00036
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu) rs371951525 0.00036
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile) rs190421400 0.00036
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146 0.00036
NM_001384474.1(LOXHD1):c.166G>A (p.Gly56Ser) rs200763838 0.00036
NM_001393500.2(TOMT):c.596C>T (p.Ala199Val) rs540371915 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_003803.4(MYOM1):c.4177A>G (p.Lys1393Glu) rs371239754 0.00036
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_006073.4(TRDN):c.1472-12G>A rs375364108 0.00036
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr) rs139922045 0.00036
NM_015404.4(WHRN):c.2417C>T (p.Pro806Leu) rs149897775 0.00036
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln) rs201953758 0.00036
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
NM_133379.5(TTN):c.10646G>A (p.Arg3549His) rs148115514 0.00036
NM_138691.3(TMC1):c.46G>A (p.Glu16Lys) rs140437301 0.00036
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp) rs373680242 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln) rs199918940 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) rs199874790 0.00035
NM_001146079.2(CLDN14):c.559G>T (p.Asp187Tyr) rs375904468 0.00035
NM_001199107.2(TBC1D24):c.1143-15G>A rs371213803 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) rs183013408 0.00035
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169 0.00035
NM_002880.4(RAF1):c.-209G>A rs727504351 0.00035
NM_004700.4(KCNQ4):c.*7T>C rs537008263 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_006393.3(NEBL):c.2148+4T>C rs193163659 0.00035
NM_022114.4(PRDM16):c.1093G>T (p.Ala365Ser) rs200562747 0.00035
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 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_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114 0.00035
NM_194248.3(OTOF):c.2650G>A (p.Ala884Thr) rs144594692 0.00035
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000260.4(MYO7A):c.5169-5G>A rs727505232 0.00034
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000395.3(CSF2RB):c.2608G>A (p.Val870Ile) rs149281832 0.00034
NM_000441.1(SLC26A4):c.-60A>G rs545973091 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=) rs41276445 0.00034
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys) rs369933152 0.00034
NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu) rs373065549 0.00034
NM_001267550.2(TTN):c.53287+6G>A rs149890360 0.00034
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_001370649.1(CLIC5):c.-55+49397T>A rs180804785 0.00034
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala) rs138145424 0.00034
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505 0.00034
NM_017433.5(MYO3A):c.1174T>C (p.Ser392Pro) rs201323717 0.00034
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His) rs374156784 0.00034
NM_024009.3(GJB3):c.-4C>T rs200902087 0.00034
NM_024426.6(WT1):c.662-6C>A rs372418954 0.00034
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886 0.00034
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys) rs62179016 0.00034
NM_144573.4(NEXN):c.613G>A (p.Glu205Lys) rs201447781 0.00034
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp) rs147904376 0.00034
NM_194248.3(OTOF):c.2507G>A (p.Arg836His) rs200670445 0.00034
NM_000059.4(BRCA2):c.10095_10096insT (p.Ser3366Ter) rs730881599 0.00033
NM_000260.4(MYO7A):c.2282+5G>A rs540145750 0.00033
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser) rs200643387 0.00033
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832 0.00033
NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser) rs547173007 0.00033
NM_002906.4(RDX):c.1106C>G (p.Thr369Ser) rs201399984 0.00033
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser) rs138843691 0.00033
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met) rs144274136 0.00033
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302 0.00033
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332 0.00032
NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter) rs200758965 0.00032
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr) rs193212275 0.00032
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061 0.00032
NM_002473.6(MYH9):c.3943-7C>A rs376396278 0.00032
NM_002473.6(MYH9):c.4831G>A (p.Ala1611Thr) rs150029980 0.00032
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys) rs727503828 0.00032
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) rs141233896 0.00032
NM_006644.4(HSPH1):c.754T>C (p.Tyr252His) rs146520007 0.00032
NM_016239.4(MYO15A):c.9160C>G (p.Pro3054Ala) rs368760461 0.00032
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000441.1(SLC26A4):c.-189A>T rs111033440 0.00031
NM_001035.3(RYR2):c.11092-6A>T rs397516501 0.00031
NM_001035.3(RYR2):c.774-14G>T rs370114411 0.00031
NM_001127453.2(GSDME):c.1118G>A (p.Gly373Asp) rs146399987 0.00031
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp) rs148824162 0.00031
NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp) rs375944265 0.00031
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00031
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys) rs140664731 0.00031
NM_001276345.2(TNNT2):c.720-13_720-11del rs397516480 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_006005.3(WFS1):c.1693C>G (p.Leu565Val) rs200058166 0.00031
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn) rs145677667 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala) rs142951316 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_022124.6(CDH23):c.2341G>A (p.Ala781Thr) rs375918283 0.00031
NM_022124.6(CDH23):c.6377G>A (p.Arg2126His) rs201942629 0.00031
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_133379.5(TTN):c.14240A>T (p.Asp4747Val) rs149586047 0.00031
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_201596.3(CACNB2):c.804+146G>T rs199539261 0.00031
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_207034.3(EDN3):c.208G>A (p.Ala70Thr) rs369429604 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000260.4(MYO7A):c.731G>A (p.Arg244His) rs121965081 0.00030
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423 0.00030
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp) rs200664061 0.00030
NM_001038603.3(MARVELD2):c.1033A>G (p.Met345Val) rs142560436 0.00030
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu) rs200181804 0.00030
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_001292063.2(OTOG):c.5918C>T (p.Thr1973Met) rs868729716 0.00030
NM_004999.4(MYO6):c.52A>G (p.Met18Val) rs142516093 0.00030
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu) rs143644290 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr) rs201033926 0.00030
NM_022124.6(CDH23):c.2171G>A (p.Arg724His) rs374955091 0.00030
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) rs200328570 0.00030
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513 0.00029
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369 0.00029
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036 0.00029
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 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_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) rs149484264 0.00029
NM_001038603.3(MARVELD2):c.585A>G (p.Ile195Met) rs144870558 0.00029
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_001145809.2(MYH14):c.5599C>T (p.Arg1867Cys) rs187789045 0.00029
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg) rs375204371 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_001376256.1(CRYM):c.108C>A (p.Ser36Arg) rs147233841 0.00029
NM_001378609.3(OTOGL):c.3566A>G (p.Gln1189Arg) rs200392453 0.00029
NM_002880.4(RAF1):c.212A>G (p.Asn71Ser) rs184022679 0.00029
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521 0.00029
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) rs142671083 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_015340.4(LARS2):c.488G>A (p.Arg163His) rs150185028 0.00029
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro) rs374659816 0.00029
NM_022124.6(CDH23):c.1134+53C>A rs572222393 0.00029
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) rs142304137 0.00029
NM_138691.3(TMC1):c.1705A>G (p.Thr569Ala) rs148971770 0.00029
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) rs199738750 0.00029
NM_144672.4(OTOA):c.605G>C (p.Arg202Pro) rs142850013 0.00029
NM_144991.3(TSPEAR):c.1335A>G (p.Glu445=) rs200789378 0.00029
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg) rs111033402 0.00029
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669 0.00028
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) rs372768607 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001105206.3(LAMA4):c.4436G>A (p.Arg1479His) rs140346737 0.00028
NM_001267550.2(TTN):c.28463-14G>A rs200917885 0.00028
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr) rs191699632 0.00028
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser) rs376857956 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_002294.3(LAMP2):c.-10C>T rs201209341 0.00028
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val) rs75487328 0.00028
NM_005422.4(TECTA):c.3103G>A (p.Glu1035Lys) rs150512674 0.00028
NM_016239.4(MYO15A):c.4096G>A (p.Asp1366Asn) rs368603235 0.00028
NM_000260.4(MYO7A):c.758A>G (p.His253Arg) rs375200566 0.00027
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400 0.00027
NM_001195263.2(PDZD7):c.1171A>G (p.Ile391Val) rs767734855 0.00027
NM_001267550.2(TTN):c.33172+4G>A rs756475184 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln) rs147254212 0.00027
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00027
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016 0.00027
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055 0.00027
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly) rs145508517 0.00027
NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser) rs201876362 0.00027
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg) rs200212083 0.00027
NM_139319.3(SLC17A8):c.310G>A (p.Val104Ile) rs373954823 0.00027
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys) rs201097154 0.00027
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_000117.3(EMD):c.646G>A (p.Gly216Arg) rs147920229 0.00026
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837 0.00026
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser) rs201298767 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.27593A>G (p.Gln9198Arg) rs368297438 0.00026
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala) rs150667217 0.00026
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg) rs200042932 0.00026
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) rs72677229 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His) rs367603302 0.00026
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 0.00026
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) rs368867993 0.00026
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) rs370771532 0.00026
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp) rs201400267 0.00026
NM_001292063.2(OTOG):c.6515G>A (p.Arg2172His) rs555068328 0.00026
NM_001292063.2(OTOG):c.7658G>C (p.Arg2553Pro) rs563003848 0.00026
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351 0.00026
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) rs139633545 0.00026
NM_002834.5(PTPN11):c.333-3T>C rs146749153 0.00026
NM_003001.5(SDHC):c.405+23C>T rs373731336 0.00026
NM_004006.3(DMD):c.9225-5819G>T rs377152944 0.00026
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_013314.4(BLNK):c.115C>T (p.Leu39=) rs34135972 0.00026
NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr) rs142823078 0.00026
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln) rs199508694 0.00026
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610 0.00026
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu) rs189895472 0.00026
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845 0.00026
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe) rs145638628 0.00026
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys) rs150280500 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 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_000384.3(APOB):c.9639C>A (p.Asn3213Lys) rs574725520 0.00025
NM_000432.4(MYL2):c.275-14G>C rs375703502 0.00025
NM_001039213.4(CEACAM16):c.116T>A (p.Leu39Gln) rs375722926 0.00025
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00025
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg) rs368502650 0.00025
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) rs201183725 0.00025
NM_001384474.1(LOXHD1):c.6082G>A (p.Gly2028Ser) rs569121054 0.00025
NM_001386795.1(DTNA):c.316C>G (p.Gln106Glu) rs140768365 0.00025
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) rs34292387 0.00025
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala) rs139579816 0.00025
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873 0.00025
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_022124.6(CDH23):c.6026T>A (p.Leu2009His) rs201067092 0.00025
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr) rs143632883 0.00025
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys) rs201583659 0.00025
NM_133379.5(TTN):c.11283G>C (p.Lys3761Asn) rs200816462 0.00025
NM_133379.5(TTN):c.12716C>T (p.Ala4239Val) rs72647901 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly) rs146569216 0.00025
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 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_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783 0.00024
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000384.3(APOB):c.5599C>T (p.Arg1867Trp) rs200583769 0.00024
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met) rs148498577 0.00024
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618 0.00024
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln) rs199788826 0.00024
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp) rs199505541 0.00024
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met) rs187023993 0.00024
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr) rs148162562 0.00024
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu) rs145232643 0.00024
NM_001386795.1(DTNA):c.1330C>T (p.Arg444Trp) rs199867593 0.00024
NM_003803.4(MYOM1):c.3548G>A (p.Arg1183Gln) rs147050513 0.00024
NM_004004.6(GJB2):c.-127G>C rs727503068 0.00024
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys) rs117749531 0.00024
NM_005379.4(MYO1A):c.1667C>T (p.Ser556Phe) rs571906190 0.00024
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile) rs377156351 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_016239.4(MYO15A):c.10076C>T (p.Pro3359Leu) rs201763265 0.00024
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val) rs200249886 0.00024
NM_016239.4(MYO15A):c.4142+6T>C rs368090576 0.00024
NM_017433.5(MYO3A):c.1052A>C (p.Glu351Ala) rs141612979 0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735 0.00024
NM_031475.3(ESPN):c.337C>T (p.Arg113Cys) rs143577178 0.00024
NM_133379.5(TTN):c.15302A>G (p.Glu5101Gly) rs142973956 0.00024
NM_144991.3(TSPEAR):c.1185G>T (p.Glu395Asp) rs143303485 0.00024
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr) rs143628723 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser) rs267608026 0.00023
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693 0.00023
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile) rs369539923 0.00023
NM_000542.5(SFTPB):c.548G>A (p.Gly183Glu) rs35524245 0.00023
NM_001005242.3(PKP2):c.1379-2025G>A rs537458442 0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00023
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys) rs201810836 0.00023
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580 0.00023
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793 0.00023
NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro) rs778687487 0.00023
NM_001330.5(CTF1):c.275C>A (p.Ala92Glu) rs727502949 0.00023
NM_004415.4(DSP):c.2794-4dup rs397516924 0.00023
NM_005219.5(DIAPH1):c.685-5A>G rs367786290 0.00023
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00023
NM_014391.3(ANKRD1):c.652-10A>T rs397517252 0.00023
NM_024422.6(DSC2):c.-113C>A rs866593085 0.00023
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499 0.00023
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000782.5(CYP24A1):c.1207G>A (p.Val403Ile) rs373243941 0.00022
NM_001039876.3(SYNE4):c.764T>C (p.Ile255Thr) rs199853331 0.00022
NM_001105206.3(LAMA4):c.4645A>T (p.Asn1549Tyr) rs141261442 0.00022
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124 0.00022
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys) rs192553687 0.00022
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile) rs367854582 0.00022
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) rs200952728 0.00022
NM_001267550.2(TTN):c.33911-6_33911-5insG rs765503214 0.00022
NM_001286445.3(RIPOR2):c.1130C>T (p.Pro377Leu) rs201901775 0.00022
NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe) rs145325518 0.00022
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp) rs375624435 0.00022
NM_001371333.1(DIABLO):c.-11C>T rs376530914 0.00022
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn) rs201344770 0.00022
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His) rs187658135 0.00022
NM_001384474.1(LOXHD1):c.3874C>T (p.Leu1292Phe) rs200792636 0.00022
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys) rs373848470 0.00022
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys) rs201193346 0.00022
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00022
NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser) rs200751434 0.00022
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750 0.00022
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met) rs139158022 0.00022
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu) rs144878400 0.00022
NM_017433.5(MYO3A):c.4840C>T (p.Gln1614Ter) rs146106052 0.00022
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile) rs369697366 0.00022
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_133379.5(TTN):c.12550G>T (p.Gly4184Cys) rs145460295 0.00022
NM_170682.4(P2RX2):c.381+2T>C rs200978001 0.00022
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr) rs201736972 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg) rs371934474 0.00021
NM_001080476.3(GRXCR1):c.774G>A (p.Met258Ile) rs200029324 0.00021
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556 0.00021
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) rs191927501 0.00021
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) rs540161344 0.00021
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser) rs187460377 0.00021
NM_001276345.2(TNNT2):c.200-11A>G rs368658464 0.00021
NM_001292063.2(OTOG):c.292+4A>C rs535970426 0.00021
NM_001927.4(DES):c.166G>C (p.Val56Leu) rs578066781 0.00021
NM_002471.4(MYH6):c.3383G>A (p.Arg1128His) rs376002621 0.00021
NM_003114.5(SPAG1):c.2707G>A (p.Asp903Asn) rs148756457 0.00021
NM_003673.4(TCAP):c.458G>A (p.Arg153His) rs149585781 0.00021
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro) rs141616288 0.00021
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_006941.4(SOX10):c.211T>G (p.Cys71Gly) rs200683397 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_015404.4(WHRN):c.619G>T (p.Ala207Ser) rs111033469 0.00021
NM_015512.5(DNAH1):c.4086G>T (p.Arg1362=) rs199813499 0.00021
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_032119.4(ADGRV1):c.9054T>G (p.Phe3018Leu) rs186975400 0.00021
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672 0.00021
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777 0.00021
NM_194248.3(OTOF):c.2252C>T (p.Thr751Met) rs727503359 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 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.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe) rs397516733 0.00020
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) rs367720439 0.00020
NM_001267550.2(TTN):c.48460+5G>A rs374413644 0.00020
NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile) rs367816473 0.00020
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys) rs376870149 0.00020
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) rs201831707 0.00020
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233 0.00020
NM_001692.4(ATP6V1B1):c.670G>A (p.Val224Ile) rs202215158 0.00020
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) rs202214380 0.00020
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile) rs200705273 0.00020
NM_016203.4(PRKAG2):c.313G>A (p.Val105Met) rs397517269 0.00020
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln) rs200781310 0.00020
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00020
NM_181458.4(PAX3):c.540C>G (p.Ser180Arg) rs200679164 0.00020
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr) rs145556189 0.00020
NC_000007.14:g.129774774G>A rs375368092 0.00019
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His) rs372628478 0.00019
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195 0.00019
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) rs368716988 0.00019
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
NM_000335.5(SCN5A):c.998+5G>A rs187531872 0.00019
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_001039141.3(TRIOBP):c.6803G>A (p.Gly2268Asp) rs200411253 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001128840.3(CACNA1D):c.3821C>T (p.Ser1274Phe) rs200382504 0.00019
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg) rs397516625 0.00019
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp) rs201421156 0.00019
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) rs201420077 0.00019
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) rs376874956 0.00019
NM_001267550.2(TTN):c.39548-8A>G rs369594816 0.00019
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) rs377682563 0.00019
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro) rs876657936 0.00019
NM_001354604.2(MITF):c.329C>T (p.Thr110Met) rs190215588 0.00019
NM_001354604.2(MITF):c.394C>A (p.Gln132Lys) rs201297175 0.00019
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg) rs539112266 0.00019
NM_001384140.1(PCDH15):c.1606G>C (p.Ala536Pro) rs140516168 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503 0.00019
NM_002471.4(MYH6):c.3598G>C (p.Asp1200His) rs372794975 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) rs201327273 0.00019
NM_004568.6(SERPINB6):c.431-12T>G rs370453956 0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_004985.5(KRAS):c.451-5535A>C rs201170656 0.00019
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser) rs146250423 0.00019
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051 0.00019
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys) rs200095753 0.00019
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) rs373862003 0.00019
NM_006393.3(NEBL):c.14T>C (p.Val5Ala) rs145770601 0.00019
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter) rs146471913 0.00019
NM_006393.3(NEBL):c.369+5G>A rs200249470 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_014000.3(VCL):c.2969C>T (p.Ala990Val) rs150595117 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val) rs150266349 0.00019
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) rs201555289 0.00019
NM_017433.5(MYO3A):c.1796G>T (p.Ser599Ile) rs142289318 0.00019
NM_018051.5(DYNC2I1):c.69G>A (p.Trp23Ter) rs202111347 0.00019
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431 0.00019
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029 0.00019
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318 0.00019
NM_032119.4(ADGRV1):c.11579C>T (p.Pro3860Leu) rs759908554 0.00019
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys) rs146526977 0.00019
NM_080680.3(COL11A2):c.233-8G>T rs375268140 0.00019
NM_133379.5(TTN):c.10625G>A (p.Arg3542Gln) rs141926114 0.00019
NM_194248.3(OTOF):c.5029G>A (p.Ala1677Thr) rs372908847 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) rs776625874 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333 0.00018
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met) rs727505067 0.00018
NM_001145809.2(MYH14):c.2840G>A (p.Arg947His) rs374883445 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 0.00018
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys) rs201653851 0.00018
NM_001267550.2(TTN):c.24922C>T (p.Pro8308Ser) rs373770383 0.00018
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) rs376982715 0.00018
NM_001267550.2(TTN):c.30511+3G>A rs563582627 0.00018
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp) rs201991864 0.00018
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919 0.00018
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His) rs143251480 0.00018
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His) rs201180147 0.00018
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445 0.00018
NM_002230.4(JUP):c.1582G>A (p.Val528Ile) rs368271628 0.00018
NM_002906.4(RDX):c.1037A>C (p.Glu346Ala) rs141462728 0.00018
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_004568.6(SERPINB6):c.313-5C>G rs370994947 0.00018
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val) rs141569007 0.00018
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_031475.3(ESPN):c.2504G>A (p.Ser835Asn) rs727503039 0.00018
NM_194248.3(OTOF):c.4454C>T (p.Pro1485Leu) rs200699092 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met) rs200125037 0.00017
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505 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_000384.3(APOB):c.13181T>C (p.Val4394Ala) rs12720843 0.00017
NM_000441.1(SLC26A4):c.-139C>T rs879914861 0.00017
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659 0.00017
NM_000601.6(HGF):c.682T>G (p.Ser228Ala) rs139457161 0.00017
NM_001032283.3(TMPO):c.806G>A (p.Arg269His) rs142891873 0.00017
NM_001038603.3(MARVELD2):c.*2G>A rs530892254 0.00017
NM_001039141.3(TRIOBP):c.5788C>T (p.Arg1930Trp) rs142769400 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn) rs373378672 0.00017
NM_001267550.2(TTN):c.40543G>A (p.Val13515Ile) rs727504200 0.00017
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe) rs376814602 0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_003803.4(MYOM1):c.3863C>T (p.Pro1288Leu) rs200808890 0.00017
NM_004817.4(TJP2):c.2129T>C (p.Val710Ala) rs150440380 0.00017
NM_005633.4(SOS1):c.3347-1G>A rs141565234 0.00017
NM_007078.3(LDB3):c.1858-10T>C rs202208256 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_014391.3(ANKRD1):c.347C>T (p.Thr116Met) rs142354133 0.00017
NM_017433.5(MYO3A):c.656C>T (p.Thr219Met) rs377660409 0.00017
NM_020297.4(ABCC9):c.4512+690C>T rs397517191 0.00017
NM_024334.3(TMEM43):c.361A>G (p.Met121Val) rs369878538 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His) rs200907244 0.00017
NM_153700.2(STRC):c.2640G>T (p.Glu880Asp) rs1342864499 0.00017
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000219.6(KCNE1):c.238G>A (p.Val80Ile) rs769368494 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met) rs199893357 0.00016
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512 0.00016
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His) rs137854610 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 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_001035.3(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315 0.00016
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716 0.00016
NM_001038603.3(MARVELD2):c.1310T>C (p.Ile437Thr) rs140452135 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001080476.3(GRXCR1):c.331T>C (p.Tyr111His) rs201002003 0.00016
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met) rs373650093 0.00016
NM_001128840.3(CACNA1D):c.1351G>C (p.Glu451Gln) rs200910800 0.00016
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr) rs376071070 0.00016
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val) rs375355193 0.00016
NM_001201397.2(EDNRB):c.164T>G (p.Leu55Arg) rs761846391 0.00016
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00016
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760 0.00016
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys) rs543102139 0.00016
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln) rs201825412 0.00016
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His) rs371538664 0.00016
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val) rs182445366 0.00016
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His) rs370135374 0.00016
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile) rs371081043 0.00016
NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=) rs200717463 0.00016
NM_001267550.2(TTN):c.81673G>A (p.Val27225Ile) rs375211424 0.00016
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg) rs375198596 0.00016
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His) rs202001776 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00016
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756 0.00016
NM_001330.5(CTF1):c.*5C>A rs397516644 0.00016
NM_001367479.1(DNAH14):c.502C>T (p.Pro168Ser) rs375791690 0.00016
NM_001371333.1(DIABLO):c.179C>T (p.Ala60Val) rs199898020 0.00016
NM_001378609.3(OTOGL):c.2560T>C (p.Phe854Leu) rs201487127 0.00016
NM_001393500.2(TOMT):c.703C>T (p.His235Tyr) rs570166217 0.00016
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_002458.3(MUC5B):c.16442C>T (p.Thr5481Met) rs369142865 0.00016
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn) rs138193963 0.00016
NM_002700.3(POU4F3):c.513C>A (p.Ser171Arg) rs148985828 0.00016
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser) rs145650440 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_005548.3(KARS1):c.1438G>C (p.Glu480Gln) rs376538590 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) rs147724970 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_014391.3(ANKRD1):c.234A>T (p.Arg78Ser) rs141376679 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile) rs113542001 0.00016
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=) rs146942382 0.00016
NM_020297.4(ABCC9):c.4512+765C>T rs142875103 0.00016
NM_022124.6(CDH23):c.1581G>T (p.Gln527His) rs552906420 0.00016
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) rs372401651 0.00016
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722 0.00016
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn) rs201800819 0.00016
NM_033056.4(PCDH15):c.5048T>G (p.Leu1683Arg) rs727504812 0.00016
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260 0.00016
NM_133261.3(GIPC3):c.883G>A (p.Glu295Lys) rs201853780 0.00016
NM_133379.5(TTN):c.13888C>G (p.Leu4630Val) rs139103966 0.00016
NM_133379.5(TTN):c.15122C>G (p.Thr5041Arg) rs148791107 0.00016
NM_138691.3(TMC1):c.448G>A (p.Ala150Thr) rs534560340 0.00016
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg) rs200753280 0.00016
NM_153676.4(USH1C):c.1889T>C (p.Leu630Pro) rs377002861 0.00016
NM_153676.4(USH1C):c.2280+6del rs776356060 0.00016
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) rs201008540 0.00016
NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys) rs199526690 0.00016
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691 0.00016
NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys) rs150070091 0.00016
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys) rs142617606 0.00016
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 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_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581 0.00015
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met) rs369768947 0.00015
NM_000441.1(SLC26A4):c.-157G>A rs568363861 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001105206.3(LAMA4):c.1298G>A (p.Arg433His) rs369658574 0.00015
NM_001105206.3(LAMA4):c.4792G>T (p.Ala1598Ser) rs202176359 0.00015
NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met) rs201746408 0.00015
NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys) rs190192954 0.00015
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val) rs397517772 0.00015
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447 0.00015
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_001378609.3(OTOGL):c.1561A>G (p.Thr521Ala) rs187504761 0.00015
NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr) rs539100194 0.00015
NM_001384140.1(PCDH15):c.4671+1223C>T rs566386133 0.00015
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys) rs201415443 0.00015
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val) rs200167311 0.00015
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_004006.3(DMD):c.32-14A>G rs367757761 0.00015
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) rs201433617 0.00015
NM_005422.4(TECTA):c.2575G>A (p.Glu859Lys) rs192787819 0.00015
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys) rs397517226 0.00015
NM_014476.6(PDLIM3):c.399-10A>G rs199979457 0.00015
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr) rs143641133 0.00015
NM_015340.4(LARS2):c.2620G>A (p.Glu874Lys) rs142215302 0.00015
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly) rs199953758 0.00015
NM_022124.6(CDH23):c.4786C>T (p.Arg1596Cys) rs372636295 0.00015
NM_032229.3(SLITRK6):c.1904G>A (p.Arg635His) rs79624852 0.00015
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_194248.3(OTOF):c.4363-6G>A rs199567872 0.00015
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_207034.3(EDN3):c.554C>T (p.Thr185Met) rs368327225 0.00015
NC_000013.11:g.20192983G>C rs906180955 0.00014
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134 0.00014
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met) rs370575495 0.00014
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) rs191989961 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) rs77442996 0.00014
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650 0.00014
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491 0.00014
NM_000268.4(NF2):c.240+15C>T rs200701337 0.00014
NM_000384.3(APOB):c.2914G>A (p.Gly972Ser) rs199893862 0.00014
NM_000395.3(CSF2RB):c.2431G>A (p.Glu811Lys) rs144413438 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_001035.3(RYR2):c.1476+4C>T rs369442980 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_001038603.3(MARVELD2):c.868C>T (p.Pro290Ser) rs757498916 0.00014
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600 0.00014
NM_001103.4(ACTN2):c.2367+5G>A rs200469353 0.00014
NM_001105206.3(LAMA4):c.3558-7T>C rs200864778 0.00014
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile) rs727505310 0.00014
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr) rs138001307 0.00014
NM_001201397.2(EDNRB):c.11G>C (p.Ser4Thr) rs201115708 0.00014
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu) rs376371272 0.00014
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn) rs199619070 0.00014
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys) rs201081803 0.00014
NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser) rs374449452 0.00014
NM_001267550.2(TTN):c.44282-6G>A rs372166634 0.00014
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00014
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met) rs373527448 0.00014
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln) rs374656017 0.00014
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr) rs200471370 0.00014
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly) rs145373396 0.00014
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) rs148067743 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys) rs201688358 0.00014
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys) rs377599569 0.00014
NM_001292063.2(OTOG):c.3359T>C (p.Leu1120Pro) rs757588809 0.00014
NM_001318895.3(FHL2):c.523A>C (p.Thr175Pro) rs200116659 0.00014
NM_001330691.3(CEP78):c.1214C>T (p.Pro405Leu) rs539146413 0.00014
NM_001384474.1(LOXHD1):c.3166G>A (p.Glu1056Lys) rs200260213 0.00014
NM_001384474.1(LOXHD1):c.854A>G (p.Asp285Gly) rs1354495647 0.00014
NM_001692.4(ATP6V1B1):c.1382C>T (p.Pro461Leu) rs371863168 0.00014
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser) rs150415679 0.00014
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys) rs376682837 0.00014
NM_002471.4(MYH6):c.346-2A>G rs141187241 0.00014
NM_002700.3(POU4F3):c.490C>T (p.Pro164Ser) rs372436251 0.00014
NM_003673.4(TCAP):c.337C>T (p.Leu113Phe) rs372312912 0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr) rs151150099 0.00014
NM_004239.4(TRIP11):c.5719+2T>C rs199736345 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.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_004999.4(MYO6):c.2472T>G (p.Ile824Met) rs368132510 0.00014
NM_005379.4(MYO1A):c.2804T>C (p.Ile935Thr) rs372760228 0.00014
NM_005422.4(TECTA):c.6162C>T (p.Ile2054=) rs140608882 0.00014
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu) rs55674815 0.00014
NM_006231.4(POLE):c.1583C>T (p.Thr528Met) rs116263919 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_006393.3(NEBL):c.109_110del (p.Leu37fs) rs762005342 0.00014
NM_012144.4(DNAI1):c.356G>A (p.Arg119Gln) rs141704318 0.00014
NM_013296.5(GPSM2):c.1358A>G (p.Lys453Arg) rs200378397 0.00014
NM_015404.4(WHRN):c.2060C>T (p.Pro687Leu) rs534523640 0.00014
NM_016239.4(MYO15A):c.4424T>C (p.Ile1475Thr) rs201808265 0.00014
NM_017433.5(MYO3A):c.1207A>G (p.Ser403Gly) rs375646552 0.00014
NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys) rs200349671 0.00014
NM_020975.6(RET):c.1063+9G>A rs765463636 0.00014
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_022114.4(PRDM16):c.1187-10G>C rs201517837 0.00014
NM_022114.4(PRDM16):c.1706C>T (p.Thr569Met) rs200647136 0.00014
NM_022124.6(CDH23):c.3869C>T (p.Pro1290Leu) rs377222292 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr) rs375641853 0.00014
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr) rs369142200 0.00014
NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln) rs142411476 0.00014
NM_030662.3(MAP2K2):c.*8C>T rs377675706 0.00014
NM_032119.4(ADGRV1):c.6029A>G (p.Lys2010Arg) rs774354351 0.00014
NM_032119.4(ADGRV1):c.8266G>A (p.Gly2756Arg) rs546198768 0.00014
NM_032119.4(ADGRV1):c.8585A>G (p.Tyr2862Cys) rs876657827 0.00014
NM_032229.3(SLITRK6):c.2506G>C (p.Val836Leu) rs371823033 0.00014
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825 0.00014
NM_133261.3(GIPC3):c.50C>G (p.Ala17Gly) rs876657815 0.00014
NM_144672.4(OTOA):c.3377T>C (p.Leu1126Pro) rs568139514 0.00014
NM_145045.5(ODAD3):c.914A>G (p.Lys305Arg) rs762033637 0.00014
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) rs148168494 0.00014
NM_153700.2(STRC):c.3307-5T>G rs727503446 0.00014
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 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_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn) rs372050452 0.00013
NM_000307.5(POU3F4):c.506C>T (p.Pro169Leu) rs200696740 0.00013
NM_000335.5(SCN5A):c.1891-8G>A rs12720064 0.00013
NM_000335.5(SCN5A):c.5857G>A (p.Glu1953Lys) rs397517956 0.00013
NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg) rs142889209 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_001005242.3(PKP2):c.1379-2018G>A rs369518480 0.00013
NM_001039141.3(TRIOBP):c.5167C>A (p.Gln1723Lys) rs370224413 0.00013
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) rs137893207 0.00013
NM_001128840.3(CACNA1D):c.1389T>G (p.Asn463Lys) rs150652713 0.00013
NM_001199799.2(ILDR1):c.1385G>A (p.Arg462Gln) rs200630651 0.00013
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser) rs397517783 0.00013
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala) rs374405802 0.00013
NM_001267550.2(TTN):c.12889T>G (p.Cys4297Gly) rs377063950 0.00013
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His) rs200941841 0.00013
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His) rs397517573 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys) rs397517600 0.00013
NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg) rs727505316 0.00013
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362 0.00013
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu) rs146636599 0.00013
NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln) rs375667028 0.00013
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001292063.2(OTOG):c.8345C>T (p.Thr2782Met) rs188322721 0.00013
NM_001318895.3(FHL2):c.512C>T (p.Thr171Met) rs727504674 0.00013
NM_001330.5(CTF1):c.145-13C>T rs397516646 0.00013
NM_001378454.1(ALMS1):c.4394C>T (p.Thr1465Met) rs200980776 0.00013
NM_001379180.1(ESRRB):c.1229C>T (p.Thr410Met) rs201714970 0.00013
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val) rs199537178 0.00013
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln) rs376467400 0.00013
NM_001384474.1(LOXHD1):c.5390A>G (p.Lys1797Arg) rs368286192 0.00013
NM_001386795.1(DTNA):c.1847C>T (p.Thr616Met) rs199556035 0.00013
NM_002230.4(JUP):c.545C>T (p.Ser182Leu) rs145592971 0.00013
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_002473.6(MYH9):c.928A>G (p.Ile310Val) rs149789202 0.00013
NM_002906.4(RDX):c.778A>G (p.Ile260Val) rs138116275 0.00013
NM_003803.4(MYOM1):c.4357A>T (p.Met1453Leu) rs181642354 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_004817.4(TJP2):c.2864C>T (p.Pro955Leu) rs769636686 0.00013
NM_004817.4(TJP2):c.61-7319G>C rs371868876 0.00013
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg) rs376593325 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005379.4(MYO1A):c.881G>A (p.Arg294His) rs368189667 0.00013
NM_005379.4(MYO1A):c.92G>A (p.Arg31His) rs727504447 0.00013
NM_005411.5(SFTPA1):c.724C>T (p.Arg242Ter) rs4253528 0.00013
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg) rs141870580 0.00013
NM_015512.5(DNAH1):c.3432C>T (p.Ser1144=) rs534534857 0.00013
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_022114.4(PRDM16):c.1574G>A (p.Arg525Gln) rs373011563 0.00013
NM_022124.6(CDH23):c.3220+5G>A rs977262704 0.00013
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936 0.00013
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152 0.00013
NM_057176.3(BSND):c.872A>G (p.Glu291Gly) rs146313023 0.00013
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_133379.5(TTN):c.13103A>G (p.Glu4368Gly) rs145803192 0.00013
NM_133379.5(TTN):c.15768T>A (p.His5256Gln) rs138826545 0.00013
NM_133379.5(TTN):c.15778A>G (p.Ile5260Val) rs369214339 0.00013
NM_173477.5(USH1G):c.-8C>T rs769903865 0.00013
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val) rs144034147 0.00013
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro) rs148310342 0.00012
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527 0.00012
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552 0.00012
NM_001009944.3(PKD1):c.10315C>T (p.Arg3439Trp) rs374486955 0.00012
NM_001039141.3(TRIOBP):c.6775C>T (p.Arg2259Cys) rs536411182 0.00012
NM_001098668.4(SFTPA2):c.371-13C>G rs755092596 0.00012
NM_001105206.3(LAMA4):c.521A>G (p.Tyr174Cys) rs202131320 0.00012
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) rs200177134 0.00012
NM_001128840.3(CACNA1D):c.5417A>G (p.Tyr1806Cys) rs369626956 0.00012
NM_001145809.2(MYH14):c.5876G>A (p.Arg1959Gln) rs200878464 0.00012
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477 0.00012
NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr) rs374631591 0.00012
NM_001267550.2(TTN):c.1399-3C>T rs397517486 0.00012
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg) rs184713215 0.00012
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn) rs370342831 0.00012
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) rs367700246 0.00012
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00012
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu) rs750217838 0.00012
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr) rs397517667 0.00012
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454 0.00012
NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr) rs397517720 0.00012
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser) rs368443217 0.00012
NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met) rs201998913 0.00012
NM_001277115.2(DNAH11):c.3494A>G (p.Asp1165Gly) rs370436662 0.00012
NM_001292063.2(OTOG):c.2080+5G>C rs765790706 0.00012
NM_001292063.2(OTOG):c.2867+6T>G rs906307749 0.00012
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_001330691.3(CEP78):c.491G>A (p.Gly164Asp) rs200752089 0.00012
NM_001378609.3(OTOGL):c.5273C>T (p.Pro1758Leu) rs372958953 0.00012
NM_001384474.1(LOXHD1):c.683C>T (p.Pro228Leu) rs372408513 0.00012
NM_001692.4(ATP6V1B1):c.1287G>A (p.Met429Ile) rs368854893 0.00012
NM_001692.4(ATP6V1B1):c.1298T>C (p.Val433Ala) rs149910460 0.00012
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_004100.5(EYA4):c.1739-64G>A rs143208937 0.00012
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu) rs397516907 0.00012
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922 0.00012
NM_004999.4(MYO6):c.2616G>T (p.Lys872Asn) rs139542573 0.00012
NM_005228.5(EGFR):c.2491C>T (p.Arg831Cys) rs371228501 0.00012
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro) rs376341411 0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys) rs147349145 0.00012
NM_016929.5(CLIC5):c.739C>T (p.Arg247Cys) rs202022202 0.00012
NM_024915.4(GRHL2):c.1690A>T (p.Met564Leu) rs200592171 0.00012
NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp) rs369126897 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter) rs201663789 0.00012
NM_153676.4(USH1C):c.965G>A (p.Arg322Gln) rs140424216 0.00012
NM_194248.3(OTOF):c.2523+5G>A rs201745796 0.00012
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg) rs139380315 0.00011
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936 0.00011
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val) rs199473348 0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val) rs370285346 0.00011
NM_000256.3(MYBPC3):c.2011G>A (p.Val671Ile) rs876657869 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_000257.4(MYH7):c.3982G>A (p.Ala1328Thr) rs372727092 0.00011
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637 0.00011
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_000601.6(HGF):c.1934A>G (p.His645Arg) rs202215700 0.00011
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser) rs141035459 0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001018116.2(CAVIN4):c.-10A>T rs369755712 0.00011
NM_001032283.3(TMPO):c.565+1641A>G rs143232629 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001103.4(ACTN2):c.1714C>T (p.Arg572Trp) rs142142718 0.00011
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr) rs397516622 0.00011
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp) rs397516629 0.00011
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086 0.00011
NM_001195263.2(PDZD7):c.1672C>T (p.Arg558Trp) rs549755324 0.00011
NM_001195263.2(PDZD7):c.874G>A (p.Gly292Ser) rs765091855 0.00011
NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg) rs143762350 0.00011
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His) rs372716177 0.00011
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr) rs727504609 0.00011
NM_001267550.2(TTN):c.1213G>A (p.Ala405Thr) rs112266780 0.00011
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln) rs779015756 0.00011
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp) rs199834143 0.00011
NM_001267550.2(TTN):c.51437-9G>A rs183060991 0.00011
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met) rs116142642 0.00011
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu) rs201194435 0.00011
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile) rs181957743 0.00011
NM_001267550.2(TTN):c.59081G>A (p.Cys19694Tyr) rs727505276 0.00011
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) rs200155485 0.00011
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.75833G>A (p.Arg25278His) rs769729114 0.00011
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile) rs372784067 0.00011
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys) rs368439674 0.00011
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu) rs370541682 0.00011
NM_001267550.2(TTN):c.95083G>A (p.Gly31695Arg) rs376403373 0.00011
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr) rs373876117 0.00011
NM_001267550.2(TTN):c.97433A>C (p.Asn32478Thr) rs876658096 0.00011
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu) rs200544701 0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_001379180.1(ESRRB):c.1147G>A (p.Ala383Thr) rs553650212 0.00011
NM_001384140.1(PCDH15):c.4671+1355A>G rs372184022 0.00011
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys) rs369682197 0.00011
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675 0.00011
NM_001927.4(DES):c.407T>A (p.Leu136His) rs397516695 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_002471.4(MYH6):c.5662-6C>T rs183733802 0.00011
NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met) rs758626716 0.00011
NM_002880.4(RAF1):c.1537-13G>A rs369039413 0.00011
NM_002906.4(RDX):c.1154A>C (p.Glu385Ala) rs146713867 0.00011
NM_002906.4(RDX):c.256C>G (p.Pro86Ala) rs376418131 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_004568.6(SERPINB6):c.946G>A (p.Val316Met) rs550855004 0.00011
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys) rs143132980 0.00011
NM_005411.5(SFTPA1):c.577C>T (p.Pro193Ser) rs139806726 0.00011
NM_005548.3(KARS1):c.-1G>T rs374675852 0.00011
NM_006005.3(WFS1):c.985T>A (p.Phe329Ile) rs188848517 0.00011
NM_006012.4(CLPP):c.667G>A (p.Ala223Thr) rs377653992 0.00011
NM_006231.4(POLE):c.1738C>A (p.His580Asn) rs371149234 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298 0.00011
NM_013296.5(GPSM2):c.1670G>A (p.Arg557His) rs148266178 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn) rs200073414 0.00011
NM_017433.5(MYO3A):c.1525T>C (p.Tyr509His) rs150793986 0.00011
NM_020975.6(RET):c.1522+35C>T rs377130948 0.00011
NM_022124.6(CDH23):c.1449+43C>T rs550931640 0.00011
NM_022124.6(CDH23):c.1514+6A>G rs367949981 0.00011
NM_022124.6(CDH23):c.1520C>T (p.Ser507Leu) rs201584731 0.00011
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_023036.6(DNAI2):c.*13G>A rs751438337 0.00011
NM_024915.4(GRHL2):c.641G>A (p.Ser214Asn) rs199931364 0.00011
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys) rs200644004 0.00011
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr) rs771410054 0.00011
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457 0.00011
NM_133379.5(TTN):c.15608T>C (p.Ile5203Thr) rs200376564 0.00011
NM_138691.3(TMC1):c.145A>C (p.Ile49Leu) rs149947445 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_144991.3(TSPEAR):c.1690G>A (p.Val564Ile) rs150792705 0.00011
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588 0.00011
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln) rs558663132 0.00011
NM_153700.2(STRC):c.3817T>C (p.Ser1273Pro) rs144626173 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn) rs139201321 0.00011
NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val) rs144562626 0.00011
NM_201384.3(PLEC):c.5825C>T (p.Ala1942Val) rs372179538 0.00011
NM_206933.4(USH2A):c.4646G>A (p.Arg1549Gln) rs190170807 0.00011
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser) rs587779934 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_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser) rs370104824 0.00010
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131 0.00010
NM_000260.4(MYO7A):c.617G>A (p.Arg206His) rs781998354 0.00010
NM_000371.4(TTR):c.140A>G (p.Asn47Ser) rs145551875 0.00010
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240 0.00010
NM_000441.2(SLC26A4):c.415+4A>G rs368280107 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) rs758166168 0.00010
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276 0.00010
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626 0.00010
NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys) rs146177203 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp) rs151119304 0.00010
NM_001105206.3(LAMA4):c.1551+4C>T rs201209516 0.00010
NM_001127453.2(GSDME):c.830C>T (p.Ser277Phe) rs375794218 0.00010
NM_001128840.3(CACNA1D):c.3115-3C>T rs779910083 0.00010
NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr) rs759409255 0.00010
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val) rs727503387 0.00010
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val) rs397516608 0.00010
NM_001145809.2(MYH14):c.1918C>T (p.Arg640Trp) rs376267080 0.00010
NM_001145809.2(MYH14):c.3475G>T (p.Asp1159Tyr) rs370256265 0.00010
NM_001145809.2(MYH14):c.5990C>T (p.Thr1997Met) rs201986144 0.00010
NM_001171613.2(PREPL):c.1747G>C (p.Gly583Arg) rs758234210 0.00010
NM_001199799.2(ILDR1):c.794C>T (p.Ser265Phe) rs146027039 0.00010
NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu) rs201565932 0.00010
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432 0.00010
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys) rs371552518 0.00010
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp) rs369544339 0.00010
NM_001267550.2(TTN):c.18680C>T (p.Pro6227Leu) rs376846228 0.00010
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His) rs397517510 0.00010
NM_001267550.2(TTN):c.26144G>A (p.Cys8715Tyr) rs183499397 0.00010
NM_001267550.2(TTN):c.31762+4C>T rs368538884 0.00010
NM_001267550.2(TTN):c.3469G>A (p.Val1157Ile) rs397517566 0.00010
NM_001267550.2(TTN):c.43G>A (p.Val15Ile) rs201857541 0.00010
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662 0.00010
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val) rs199583938 0.00010
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser) rs200493270 0.00010
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719 0.00010
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly) rs368023868 0.00010
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215 0.00010
NM_001267550.2(TTN):c.84448T>C (p.Tyr28150His) rs397517727 0.00010
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile) rs200709344 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704 0.00010
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile) rs727504672 0.00010
NM_001292063.2(OTOG):c.7810C>T (p.Arg2604Cys) rs876657944 0.00010
NM_001292063.2(OTOG):c.94+76C>T rs568988885 0.00010
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_001378609.3(OTOGL):c.214T>C (p.Trp72Arg) rs369473810 0.00010
NM_001384140.1(PCDH15):c.2051A>G (p.Tyr684Cys) rs372076259 0.00010
NM_001384474.1(LOXHD1):c.4756C>T (p.Arg1586Cys) rs773223976 0.00010
NM_001384474.1(LOXHD1):c.5387A>G (p.Lys1796Arg) rs370816148 0.00010
NM_001384474.1(LOXHD1):c.6640G>A (p.Gly2214Ser) rs769490340 0.00010
NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys) rs727503151 0.00010
NM_001386795.1(DTNA):c.1086-321A>C rs191973037 0.00010
NM_001692.4(ATP6V1B1):c.422C>T (p.Ala141Val) rs372842500 0.00010
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359 0.00010
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp) rs142059069 0.00010
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln) rs727503239 0.00010
NM_002471.4(MYH6):c.3343-3C>A rs565446762 0.00010
NM_002880.4(RAF1):c.935T>C (p.Val312Ala) rs370243307 0.00010
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) rs267607124 0.00010
NM_005188.4(CBL):c.2312A>T (p.Asp771Val) rs199788586 0.00010
NM_005219.5(DIAPH1):c.3574+6G>C rs538555634 0.00010
NM_005472.5(KCNE3):c.158G>A (p.Arg53His) rs565287436 0.00010
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_006005.3(WFS1):c.1969A>G (p.Met657Val) rs71532861 0.00010
NM_006012.4(CLPP):c.100C>T (p.Pro34Ser) rs776759641 0.00010
NM_006073.4(TRDN):c.125C>T (p.Thr42Met) rs371627659 0.00010
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_014000.3(VCL):c.688C>T (p.Arg230Cys) rs139312390 0.00010
NM_015404.4(WHRN):c.1625G>A (p.Arg542Lys) rs200040563 0.00010
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270 0.00010
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met) rs781597943 0.00010
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_032119.4(ADGRV1):c.10768A>T (p.Ser3590Cys) rs183319660 0.00010
NM_032119.4(ADGRV1):c.11581-2dup rs745783842 0.00010
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu) rs200530343 0.00010
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144 0.00010
NM_080680.3(COL11A2):c.2528C>T (p.Thr843Met) rs770007946 0.00010
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs) rs759052246 0.00010
NM_133379.5(TTN):c.16075A>G (p.Met5359Val) rs372044281 0.00010
NM_133379.5(TTN):c.16394G>A (p.Arg5465Gln) rs148147002 0.00010
NM_138691.3(TMC1):c.1030-3C>T rs370872111 0.00010
NM_138691.3(TMC1):c.2230C>T (p.Arg744Ter) rs150738413 0.00010
NM_170707.4(LMNA):c.*6G>A rs397517885 0.00010
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys) rs146982209 0.00010
NM_194248.3(OTOF):c.5128A>C (p.Met1710Leu) rs368639052 0.00010
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser) rs143898511 0.00010
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) rs727503735 0.00010
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile) rs139058991 0.00009
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile) rs199472677 0.00009
NM_000249.3(MLH1):c.-42C>T rs41285097 0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000256.3(MYBPC3):c.1565C>T (p.Ala522Val) rs370362589 0.00009
NM_000256.3(MYBPC3):c.3384G>C (p.Glu1128Asp) rs375116558 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.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) rs373080197 0.00009
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln) rs397516328 0.00009
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His) rs199473145 0.00009
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn) rs199473599 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.5686C>T (p.Arg1896Trp) rs45465995 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_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000687.4(AHCY):c.100C>T (p.Arg34Cys) rs145239391 0.00009
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 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_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_001039141.3(TRIOBP):c.6961T>C (p.Tyr2321His) rs727503530 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001145809.2(MYH14):c.693C>T (p.Pro231=) rs373744231 0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001256317.3(TMPRSS3):c.616+5G>A rs138768408 0.00009
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val) rs200675195 0.00009
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr) rs397517786 0.00009
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) rs72648945 0.00009
NM_001267550.2(TTN):c.31391G>A (p.Arg10464Gln) rs727504757 0.00009
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His) rs368777046 0.00009
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr) rs766391823 0.00009
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His) rs368988689 0.00009
NM_001267550.2(TTN):c.50480G>A (p.Arg16827Gln) rs138896856 0.00009
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala) rs370067597 0.00009
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln) rs142395261 0.00009
NM_001267550.2(TTN):c.51896C>T (p.Pro17299Leu) rs369648778 0.00009
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) rs549478203 0.00009
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 0.00009
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His) rs200100660 0.00009
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603 0.00009
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp) rs201623791 0.00009
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His) rs200455644 0.00009
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=) rs374858668 0.00009
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00009
NM_001267550.2(TTN):c.68605G>A (p.Gly22869Ser) rs876658078 0.00009
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val) rs142391957 0.00009
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His) rs373532064 0.00009
NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile) rs753966916 0.00009
NM_001267550.2(TTN):c.89515A>G (p.Ile29839Val) rs750806089 0.00009
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met) rs397517746 0.00009
NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala) rs759474127 0.00009
NM_001292063.2(OTOG):c.2294-7A>G rs200998174 0.00009
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_001370259.2(MEN1):c.655-4del rs748005956 0.00009
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001384140.1(PCDH15):c.2823G>T (p.Lys941Asn) rs773599066 0.00009
NM_001384474.1(LOXHD1):c.1640G>A (p.Arg547His) rs184173766 0.00009
NM_001384474.1(LOXHD1):c.5085+6G>A rs373466081 0.00009
NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser) rs775871086 0.00009
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=) rs749182319 0.00009
NM_001692.4(ATP6V1B1):c.1061-13A>G rs200724195 0.00009
NM_001692.4(ATP6V1B1):c.664G>A (p.Ala222Thr) rs781981910 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile) rs727504770 0.00009
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639 0.00009
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys) rs780726611 0.00009
NM_002473.6(MYH9):c.5188C>T (p.Arg1730Cys) rs201021615 0.00009
NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu) rs727504436 0.00009
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile) rs149201422 0.00009
NM_003476.5(CSRP3):c.49G>A (p.Val17Ile) rs767932680 0.00009
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys) rs374886575 0.00009
NM_003803.4(MYOM1):c.1466A>G (p.Tyr489Cys) rs369422118 0.00009
NM_003803.4(MYOM1):c.2137C>T (p.Arg713Cys) rs375858580 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004006.3(DMD):c.3281T>C (p.Leu1094Ser) rs876657778 0.00009
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674 0.00009
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile) rs373275414 0.00009
NM_005379.4(MYO1A):c.2872A>G (p.Ser958Gly) rs184810732 0.00009
NM_005422.4(TECTA):c.65-14A>G rs201171064 0.00009
NM_005548.3(KARS1):c.1256C>T (p.Thr419Ile) rs773192982 0.00009
NM_005548.3(KARS1):c.1448C>G (p.Thr483Ser) rs200645820 0.00009
NM_005633.4(SOS1):c.244A>G (p.Ile82Val) rs397517157 0.00009
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844 0.00009
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461 0.00009
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824 0.00009
NM_012120.3(CD2AP):c.902A>T (p.Lys301Met) rs141778404 0.00009
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys) rs140540222 0.00009
NM_015404.4(WHRN):c.1222C>A (p.Pro408Thr) rs368241259 0.00009
NM_016239.4(MYO15A):c.10154T>C (p.Val3385Ala) rs376432083 0.00009
NM_016239.4(MYO15A):c.5803C>G (p.Arg1935Gly) rs200041829 0.00009
NM_016239.4(MYO15A):c.5964+3G>C rs530975087 0.00009
NM_016239.4(MYO15A):c.8528A>G (p.Lys2843Arg) rs201542989 0.00009
NM_021116.4(ADCY1):c.1406A>G (p.His469Arg) rs1055365568 0.00009
NM_021803.4(IL21):c.127A>T (p.Ile43Leu) rs374097344 0.00009
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu) rs373168635 0.00009
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957 0.00009
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022124.6(CDH23):c.7361C>T (p.Thr2454Met) rs772949926 0.00009
NM_022124.6(CDH23):c.8534G>A (p.Arg2845His) rs199668532 0.00009
NM_022124.6(CDH23):c.9413G>A (p.Arg3138Gln) rs372676235 0.00009
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578 0.00009
NM_024422.6(DSC2):c.23G>T (p.Gly8Val) rs794728063 0.00009
NM_031475.3(ESPN):c.1025C>T (p.Ser342Phe) rs199502924 0.00009
NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val) rs761066341 0.00009
NM_032119.4(ADGRV1):c.16079-11C>G rs374007277 0.00009
NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu) rs373862154 0.00009
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile) rs547397177 0.00009
NM_032119.4(ADGRV1):c.8995C>G (p.Gln2999Glu) rs200503628 0.00009
NM_133379.5(TTN):c.13589T>G (p.Ile4530Arg) rs200066725 0.00009
NM_133379.5(TTN):c.16016A>G (p.Asp5339Gly) rs372997814 0.00009
NM_138691.3(TMC1):c.1846G>A (p.Val616Ile) rs376422017 0.00009
NM_144573.4(NEXN):c.392A>G (p.Gln131Arg) rs397517858 0.00009
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193 0.00009
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu) rs371856107 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_194248.3(OTOF):c.2542G>A (p.Asp848Asn) rs147865867 0.00009
NM_194248.3(OTOF):c.337T>C (p.Cys113Arg) rs146615166 0.00009
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307 0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn) rs764124390 0.00009
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln) rs780020144 0.00009
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430 0.00008
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837 0.00008
NM_000179.3(MSH6):c.1474A>G (p.Met492Val) rs61754783 0.00008
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu) rs63751684 0.00008
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu) rs373056282 0.00008
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) rs111033224 0.00008
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu) rs199473638 0.00008
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr) rs72654426 0.00008
NM_000455.5(STK11):c.920+5G>A rs587780013 0.00008
NM_000501.4(ELN):c.34G>A (p.Gly12Arg) rs149127344 0.00008
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr) rs375021201 0.00008
NM_001035.3(RYR2):c.13329-11T>G rs778172821 0.00008
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642 0.00008
NM_001038603.3(MARVELD2):c.288C>A (p.Asp96Glu) rs73113102 0.00008
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr) rs192816572 0.00008
NM_001105206.3(LAMA4):c.4405G>A (p.Ala1469Thr) rs727504595 0.00008
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_001232.4(CASQ2):c.758G>A (p.Arg253His) rs199571249 0.00008
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) rs200782068 0.00008
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr) rs397517829 0.00008
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr) rs191968963 0.00008
NM_001267550.2(TTN):c.17075T>C (p.Val5692Ala) rs570039271 0.00008
NM_001267550.2(TTN):c.2776-14T>C rs201611946 0.00008
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr) rs377037421 0.00008
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His) rs727504520 0.00008
NM_001267550.2(TTN):c.88183T>C (p.Phe29395Leu) rs55940667 0.00008
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met) rs397517759 0.00008
NM_001267550.2(TTN):c.99460C>T (p.Arg33154Cys) rs143556947 0.00008
NM_001267550.2(TTN):c.99668G>A (p.Arg33223His) rs369081242 0.00008
NM_001292063.2(OTOG):c.8541+5G>A rs754883697 0.00008
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly) rs727502974 0.00008
NM_001378609.3(OTOGL):c.6832A>G (p.Arg2278Gly) rs372725776 0.00008
NM_001379180.1(ESRRB):c.302C>T (p.Ala101Val) rs528723972 0.00008
NM_001384474.1(LOXHD1):c.210G>T (p.Glu70Asp) rs876657859 0.00008
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604 0.00008
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663 0.00008
NM_001614.5(ACTG1):c.-1A>G rs781801921 0.00008
NM_002471.4(MYH6):c.1002T>A (p.Asp334Glu) rs371859345 0.00008
NM_002471.4(MYH6):c.1154C>T (p.Ser385Leu) rs778319108 0.00008
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp) rs527571090 0.00008
NM_003803.4(MYOM1):c.3413G>A (p.Arg1138His) rs148782330 0.00008
NM_003803.4(MYOM1):c.3665A>G (p.Tyr1222Cys) rs748819463 0.00008
NM_005379.4(MYO1A):c.3091A>G (p.Lys1031Glu) rs371613423 0.00008
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_006393.3(NEBL):c.259-13T>G rs923819811 0.00008
NM_014000.3(VCL):c.1490T>C (p.Ile497Thr) rs572757800 0.00008
NM_014000.3(VCL):c.2444A>G (p.Lys815Arg) rs373010557 0.00008
NM_016239.4(MYO15A):c.1418T>G (p.Leu473Arg) rs370497397 0.00008
NM_016239.4(MYO15A):c.4038+6_4038+7del rs1491110483 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
NM_022124.6(CDH23):c.2059+6G>A rs727502923 0.00008
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp) rs397517344 0.00008
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00008
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301 0.00008
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg) rs369717492 0.00008
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter) rs761299690 0.00008
NM_033118.4(MYLK2):c.719T>C (p.Val240Ala) rs531015124 0.00008
NM_080680.3(COL11A2):c.1489C>T (p.Arg497Cys) rs752552097 0.00008
NM_133379.5(TTN):c.11809A>C (p.Lys3937Gln) rs562658562 0.00008
NM_133379.5(TTN):c.13799A>C (p.Glu4600Ala) rs200760091 0.00008
NM_144672.4(OTOA):c.446C>A (p.Ala149Asp) rs113820086 0.00008
NM_144991.3(TSPEAR):c.673G>A (p.Ala225Thr) rs146216896 0.00008
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792 0.00008
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp) rs202174251 0.00008
NM_181458.4(PAX3):c.561C>G (p.Ser187Arg) rs375978379 0.00008
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys) rs372966682 0.00008
NM_212550.5(BLOC1S3):c.92C>T (p.Ala31Val) rs148910210 0.00008
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg) rs587779804 0.00007
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830 0.00007
NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp) rs766616232 0.00007
NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671 0.00007
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 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_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000251.3(MSH2):c.818T>C (p.Val273Ala) rs144288433 0.00007
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 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.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_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) rs375253473 0.00007
NM_000384.3(APOB):c.6655C>T (p.Arg2219Cys) rs141641980 0.00007
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) rs148647933 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_001035.3(RYR2):c.13329-3T>C rs542440592 0.00007
NM_001035.3(RYR2):c.2104G>A (p.Gly702Arg) rs569386030 0.00007
NM_001122659.3(EDNRB):c.758G>A (p.Arg253Gln) rs140514830 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met) rs397517795 0.00007
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser) rs727503652 0.00007
NM_001267550.2(TTN):c.27793A>C (p.Asn9265His) rs397517524 0.00007
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile) rs369932282 0.00007
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His) rs571348685 0.00007
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) rs145308734 0.00007
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His) rs727503604 0.00007
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro) rs375000725 0.00007
NM_001267550.2(TTN):c.62290G>C (p.Glu20764Gln) rs397517651 0.00007
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His) rs727503585 0.00007
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His) rs372267046 0.00007
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr) rs375202101 0.00007
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro) rs369671334 0.00007
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met) rs144398602 0.00007
NM_001267550.2(TTN):c.78980G>A (p.Arg26327Gln) rs370367786 0.00007
NM_001267550.2(TTN):c.93725G>A (p.Arg31242His) rs369899675 0.00007
NM_001267550.2(TTN):c.9571C>G (p.Gln3191Glu) rs33997263 0.00007
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His) rs397517775 0.00007
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197 0.00007
NM_001292063.2(OTOG):c.421C>T (p.Arg141Trp) rs752392477 0.00007
NM_001292063.2(OTOG):c.4820C>T (p.Ser1607Leu) rs867891665 0.00007
NM_001379180.1(ESRRB):c.689-10G>A rs534216019 0.00007
NM_002230.4(JUP):c.356C>T (p.Pro119Leu) rs376123010 0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser) rs397516747 0.00007
NM_002471.4(MYH6):c.4036C>T (p.Arg1346Trp) rs372736126 0.00007
NM_002471.4(MYH6):c.679G>A (p.Ala227Thr) rs201828188 0.00007
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg) rs750349613 0.00007
NM_004100.5(EYA4):c.1739-118G>A rs757084701 0.00007
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146 0.00007
NM_005422.4(TECTA):c.2967C>A (p.His989Gln) rs200821009 0.00007
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala) rs200544452 0.00007
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034 0.00007
NM_006005.3(WFS1):c.1633G>A (p.Val545Met) rs201993978 0.00007
NM_006073.4(TRDN):c.1801C>G (p.Pro601Ala) rs376214235 0.00007
NM_006231.4(POLE):c.5278G>A (p.Val1760Met) rs373272795 0.00007
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala) rs145108467 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_013296.5(GPSM2):c.57-10A>G rs184863735 0.00007
NM_015404.4(WHRN):c.1349G>A (p.Arg450His) rs200377723 0.00007
NM_016239.4(MYO15A):c.370G>A (p.Ala124Thr) rs576041753 0.00007
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191 0.00007
NM_016239.4(MYO15A):c.9982A>C (p.Ser3328Arg) rs376470294 0.00007
NM_017433.5(MYO3A):c.2918G>A (p.Arg973Gln) rs142974032 0.00007
NM_022124.6(CDH23):c.4664G>A (p.Arg1555His) rs727502927 0.00007
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) rs397517333 0.00007
NM_022124.6(CDH23):c.9381-123C>A rs775172553 0.00007
NM_032119.4(ADGRV1):c.9466A>G (p.Ile3156Val) rs372484022 0.00007
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) rs201180712 0.00007
NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln) rs201806320 0.00007
NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala) rs374000722 0.00007
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys) rs369486891 0.00007
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) rs368903400 0.00007
NM_170682.4(P2RX2):c.943C>T (p.Arg315Cys) rs761180947 0.00007
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg) rs199672621 0.00007
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) rs142302070 0.00007
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040 0.00007
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841 0.00006
NM_000092.5(COL4A4):c.1394C>T (p.Pro465Leu) rs200411532 0.00006
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133 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_000179.3(MSH6):c.1019T>C (p.Phe340Ser) rs61753793 0.00006
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp) rs397515876 0.00006
NM_000218.3(KCNQ1):c.1888C>T (p.Pro630Ser) rs199472822 0.00006
NM_000219.6(KCNE1):c.-3del rs397515878 0.00006
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000251.3(MSH2):c.2503A>C (p.Asn835His) rs41295296 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.1458-7C>T rs397515904 0.00006
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) rs397515956 0.00006
NM_000256.3(MYBPC3):c.2518G>A (p.Val840Met) rs376936056 0.00006
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623 0.00006
NM_000257.4(MYH7):c.1060G>A (p.Gly354Ser) rs727503270 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 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.5326A>G (p.Ser1776Gly) rs369437262 0.00006
NM_000257.4(MYH7):c.968T>C (p.Ile323Thr) rs397516275 0.00006
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328 0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912 0.00006
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) rs370232066 0.00006
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330 0.00006
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln) rs748094394 0.00006
NM_000335.5(SCN5A):c.142G>A (p.Glu48Lys) rs199473048 0.00006
NM_000335.5(SCN5A):c.3032C>T (p.Pro1011Leu) rs369249772 0.00006
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr) rs771018427 0.00006
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn) rs184709702 0.00006
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp) rs149306841 0.00006
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590 0.00006
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000441.2(SLC26A4):c.920C>T (p.Thr307Met) rs144691257 0.00006
NM_000455.5(STK11):c.125G>T (p.Arg42Leu) rs148830698 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000535.7(PMS2):c.1233A>T (p.Glu411Asp) rs587780040 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000545.8(HNF1A):c.245C>T (p.Thr82Met) rs568123980 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001032283.3(TMPO):c.565+1328G>T rs369208265 0.00006
NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu) rs397516522 0.00006
NM_001035.3(RYR2):c.4596+4C>T rs397516532 0.00006
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met) rs370331492 0.00006
NM_001038603.3(MARVELD2):c.1006C>T (p.Arg336Trp) rs779060557 0.00006
NM_001038603.3(MARVELD2):c.115C>T (p.Arg39Trp) rs145027254 0.00006
NM_001039141.3(TRIOBP):c.5266C>T (p.Arg1756Trp) rs774610362 0.00006
NM_001039141.3(TRIOBP):c.6248G>A (p.Arg2083His) rs185791823 0.00006
NM_001039213.4(CEACAM16):c.61G>A (p.Glu21Lys) rs368296153 0.00006
NM_001103.4(ACTN2):c.2323C>T (p.His775Tyr) rs370677725 0.00006
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=) rs141988342 0.00006
NM_001105206.3(LAMA4):c.4168C>T (p.Arg1390Trp) rs200189282 0.00006
NM_001105206.3(LAMA4):c.4679G>A (p.Arg1560Gln) rs397516732 0.00006
NM_001134363.3(RBM20):c.3574-7T>G rs397516616 0.00006
NM_001145809.2(MYH14):c.4297G>A (p.Glu1433Lys) rs771755654 0.00006
NM_001145809.2(MYH14):c.565C>T (p.Arg189Cys) rs200818171 0.00006
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001195263.2(PDZD7):c.1485C>A (p.Ser495Arg) rs766182369 0.00006
NM_001199799.2(ILDR1):c.1357C>T (p.Arg453Trp) rs376986803 0.00006
NM_001199799.2(ILDR1):c.929T>G (p.Phe310Cys) rs199882599 0.00006
NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly) rs397516640 0.00006
NM_001256317.3(TMPRSS3):c.1169C>T (p.Thr390Met) rs145766262 0.00006
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp) rs200716930 0.00006
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476 0.00006
NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile) rs727505306 0.00006
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020 0.00006
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His) rs199663911 0.00006
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) rs200348414 0.00006
NM_001267550.2(TTN):c.13376T>C (p.Ile4459Thr) rs763065439 0.00006
NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val) rs397517487 0.00006
NM_001267550.2(TTN):c.1834A>G (p.Lys612Glu) rs727505256 0.00006
NM_001267550.2(TTN):c.18653T>G (p.Leu6218Arg) rs727505193 0.00006
NM_001267550.2(TTN):c.22241-5T>C rs397517501 0.00006
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) rs188234466 0.00006
NM_001267550.2(TTN):c.32198-10T>C rs371121439 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile) rs375735354 0.00006
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr) rs369623392 0.00006
NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala) rs199910114 0.00006
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala) rs773027240 0.00006
NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser) rs766074604 0.00006
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr) rs72646819 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.60002C>T (p.Pro20001Leu) rs727505345 0.00006
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp) rs727504479 0.00006
NM_001267550.2(TTN):c.62459T>C (p.Ile20820Thr) rs369446270 0.00006
NM_001267550.2(TTN):c.63800C>T (p.Pro21267Leu) rs200365508 0.00006
NM_001267550.2(TTN):c.63887G>A (p.Ser21296Asn) rs727503583 0.00006
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu) rs777009984 0.00006
NM_001267550.2(TTN):c.7157G>A (p.Gly2386Asp) rs142926566 0.00006
NM_001267550.2(TTN):c.80290G>A (p.Gly26764Arg) rs727505213 0.00006
NM_001267550.2(TTN):c.81758A>G (p.Asn27253Ser) rs529055709 0.00006
NM_001267550.2(TTN):c.83978C>A (p.Thr27993Asn) rs377614000 0.00006
NM_001267550.2(TTN):c.84652G>A (p.Gly28218Ser) rs727504693 0.00006
NM_001267550.2(TTN):c.89375C>T (p.Thr29792Ile) rs876658091 0.00006
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val) rs570464905 0.00006
NM_001267550.2(TTN):c.99517T>A (p.Cys33173Ser) rs773021609 0.00006
NM_001276345.2(TNNT2):c.601-8C>T rs397516475 0.00006
NM_001292063.2(OTOG):c.1546C>T (p.Arg516Cys) rs755375116 0.00006
NM_001292063.2(OTOG):c.1793G>A (p.Arg598His) rs1032491736 0.00006
NM_001292063.2(OTOG):c.284C>G (p.Ala95Gly) rs941077657 0.00006
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys) rs374613600 0.00006
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe) rs767853104 0.00006
NM_001369.3(DNAH5):c.5485-11A>G rs372860402 0.00006
NM_001376256.1(CRYM):c.761C>T (p.Ala254Val) rs727505275 0.00006
NM_001378609.3(OTOGL):c.1714A>G (p.Ile572Val) rs942588475 0.00006
NM_001378609.3(OTOGL):c.2945A>C (p.Asp982Ala) rs774797627 0.00006
NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val) rs374368341 0.00006
NM_001378609.3(OTOGL):c.4860G>A (p.Lys1620=) rs753442959 0.00006
NM_001379180.1(ESRRB):c.626G>A (p.Arg209Gln) rs201691455 0.00006
NM_001384140.1(PCDH15):c.2396G>A (p.Arg799His) rs199824864 0.00006
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454 0.00006
NM_001384140.1(PCDH15):c.3807-6T>G rs727504791 0.00006
NM_001384140.1(PCDH15):c.4671+1616G>A rs371191414 0.00006
NM_001384140.1(PCDH15):c.575A>G (p.Gln192Arg) rs201496062 0.00006
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys) rs200798008 0.00006
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250 0.00006
NM_001384474.1(LOXHD1):c.286C>T (p.Arg96Trp) rs397517861 0.00006
NM_001384474.1(LOXHD1):c.3335T>C (p.Met1112Thr) rs371252446 0.00006
NM_001384474.1(LOXHD1):c.3461G>A (p.Gly1154Asp) rs727503142 0.00006
NM_001384474.1(LOXHD1):c.4376-6G>A rs369463541 0.00006
NM_001384474.1(LOXHD1):c.4741-11C>G rs181095005 0.00006
NM_001384474.1(LOXHD1):c.5400-7C>G rs376131738 0.00006
NM_001384474.1(LOXHD1):c.5740G>A (p.Gly1914Arg) rs727504988 0.00006
NM_001384474.1(LOXHD1):c.5911G>T (p.Asp1971Tyr) rs727504544 0.00006
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu) rs763915229 0.00006
NM_001692.4(ATP6V1B1):c.362T>A (p.Met121Lys) rs201325403 0.00006
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln) rs145196117 0.00006
NM_001692.4(ATP6V1B1):c.941G>A (p.Arg314His) rs782110679 0.00006
NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln) rs148429410 0.00006
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) rs372494397 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933 0.00006
NM_002471.4(MYH6):c.1628A>G (p.Lys543Arg) rs367663906 0.00006
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys) rs149650190 0.00006
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys) rs397516762 0.00006
NM_002471.4(MYH6):c.4747G>A (p.Glu1583Lys) rs397516771 0.00006
NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp) rs111473291 0.00006
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp) rs375955867 0.00006
NM_002691.4(POLD1):c.1696G>A (p.Glu566Lys) rs372429157 0.00006
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp) rs780138978 0.00006
NM_002755.4(MAP2K1):c.56C>G (p.Ala19Gly) rs727504413 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002906.4(RDX):c.790G>C (p.Ala264Pro) rs201031650 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_003476.5(CSRP3):c.148G>A (p.Ala50Thr) rs145300736 0.00006
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg) rs185980145 0.00006
NM_003803.4(MYOM1):c.2428C>T (p.Arg810Trp) rs776727177 0.00006
NM_004006.3(DMD):c.*24G>A rs372284841 0.00006
NM_004006.3(DMD):c.3082C>T (p.Arg1028Cys) rs146384458 0.00006
NM_004006.3(DMD):c.43G>C (p.Asp15His) rs876657780 0.00006
NM_004086.3(COCH):c.373+4G>A rs376255896 0.00006
NM_004100.5(EYA4):c.252T>A (p.Ser84Arg) rs758076073 0.00006
NM_004281.4(BAG3):c.-4C>T rs727502894 0.00006
NM_004281.4(BAG3):c.400T>A (p.Ser134Thr) rs375257731 0.00006
NM_004281.4(BAG3):c.785C>T (p.Ala262Val) rs397516883 0.00006
NM_004817.4(TJP2):c.2858C>T (p.Ser953Leu) rs377218278 0.00006
NM_004999.4(MYO6):c.1748C>T (p.Ala583Val) rs766684928 0.00006
NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys) rs200205409 0.00006
NM_004999.4(MYO6):c.3367A>G (p.Asn1123Asp) rs189411232 0.00006
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln) rs200004048 0.00006
NM_005379.4(MYO1A):c.1055G>A (p.Arg352His) rs727504566 0.00006
NM_005422.4(TECTA):c.1123G>A (p.Val375Ile) rs752254649 0.00006
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005422.4(TECTA):c.2749G>A (p.Asp917Asn) rs145852265 0.00006
NM_005422.4(TECTA):c.5296G>A (p.Val1766Met) rs781245536 0.00006
NM_005422.4(TECTA):c.5861C>T (p.Thr1954Met) rs542600464 0.00006
NM_005548.3(KARS1):c.5C>T (p.Ala2Val) rs773811440 0.00006
NM_005633.4(SOS1):c.929G>A (p.Arg310His) rs143481916 0.00006
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys) rs181988441 0.00006
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) rs138771366 0.00006
NM_006005.3(WFS1):c.2026C>T (p.Arg676Cys) rs201623184 0.00006
NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln) rs140667597 0.00006
NM_006005.3(WFS1):c.449C>T (p.Ala150Val) rs113651985 0.00006
NM_006231.4(POLE):c.6262C>T (p.Pro2088Ser) rs749342382 0.00006
NM_006393.3(NEBL):c.2346+6G>A rs201822024 0.00006
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile) rs367986765 0.00006
NM_006941.4(SOX10):c.773G>A (p.Arg258Gln) rs748234376 0.00006
NM_007078.3(LDB3):c.1697T>G (p.Met566Arg) rs566463138 0.00006
NM_012208.4(HARS2):c.502C>T (p.Arg168Cys) rs761054820 0.00006
NM_013296.5(GPSM2):c.593G>A (p.Arg198Gln) rs371700490 0.00006
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly) rs779008975 0.00006
NM_015340.4(LARS2):c.180G>C (p.Glu60Asp) rs199568924 0.00006
NM_015340.4(LARS2):c.1814G>A (p.Arg605His) rs142665087 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_016239.4(MYO15A):c.215G>A (p.Arg72His) rs759523877 0.00006
NM_016239.4(MYO15A):c.467T>C (p.Val156Ala) rs761670755 0.00006
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys) rs191828237 0.00006
NM_016239.4(MYO15A):c.5210G>A (p.Arg1737Gln) rs369518617 0.00006
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln) rs769596933 0.00006
NM_016239.4(MYO15A):c.5893C>T (p.Arg1965Cys) rs374485649 0.00006
NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn) rs374160194 0.00006
NM_017433.5(MYO3A):c.2803A>C (p.Met935Leu) rs375958934 0.00006
NM_017433.5(MYO3A):c.3007C>T (p.Leu1003Phe) rs776675167 0.00006
NM_020297.4(ABCC9):c.3668C>T (p.Thr1223Met) rs137907278 0.00006
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 0.00006
NM_021116.4(ADCY1):c.790-3C>T rs76595582 0.00006
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn) rs200792189 0.00006
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile) rs143782870 0.00006
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys) rs771795434 0.00006
NM_022124.6(CDH23):c.3802G>A (p.Val1268Met) rs201884261 0.00006
NM_022124.6(CDH23):c.4582G>A (p.Glu1528Lys) rs201533282 0.00006
NM_022124.6(CDH23):c.460G>A (p.Val154Met) rs199741966 0.00006
NM_022124.6(CDH23):c.5471G>A (p.Arg1824His) rs111033491 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.7568C>T (p.Pro2523Leu) rs369761606 0.00006
NM_022124.6(CDH23):c.8225C>T (p.Pro2742Leu) rs758360283 0.00006
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) rs727505254 0.00006
NM_022124.6(CDH23):c.9883A>C (p.Thr3295Pro) rs781716568 0.00006
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) rs368743687 0.00006
NM_022124.6(CDH23):c.9979G>A (p.Ala3327Thr) rs200733236 0.00006
NM_024009.3(GJB3):c.293G>A (p.Arg98His) rs201314683 0.00006
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478 0.00006
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304 0.00006
NM_031475.3(ESPN):c.1094C>T (p.Pro365Leu) rs201251427 0.00006
NM_032119.4(ADGRV1):c.13228G>A (p.Glu4410Lys) rs371970388 0.00006
NM_032119.4(ADGRV1):c.13600A>G (p.Met4534Val) rs761667882 0.00006
NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile) rs369108080 0.00006
NM_032119.4(ADGRV1):c.17204+4A>G rs376691612 0.00006
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser) rs397517427 0.00006
NM_032119.4(ADGRV1):c.9918A>G (p.Ile3306Met) rs1264693693 0.00006
NM_032229.3(SLITRK6):c.1102C>T (p.Leu368Phe) rs1053146634 0.00006
NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser) rs550455783 0.00006
NM_032578.4(MYPN):c.2507C>T (p.Ser836Phe) rs376141715 0.00006
NM_032578.4(MYPN):c.3763G>A (p.Val1255Met) rs750655311 0.00006
NM_033118.4(MYLK2):c.463A>T (p.Ile155Phe) rs140233643 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_080680.3(COL11A2):c.3583-3C>T rs727502939 0.00006
NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His) rs772567850 0.00006
NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys) rs727504458 0.00006
NM_133379.5(TTN):c.13204C>T (p.Leu4402Phe) rs370602665 0.00006
NM_133379.5(TTN):c.13984A>G (p.Ile4662Val) rs374783099 0.00006
NM_133379.5(TTN):c.14295T>G (p.His4765Gln) rs140366460 0.00006
NM_138691.3(TMC1):c.339G>A (p.Met113Ile) rs397517840 0.00006
NM_138691.3(TMC1):c.472C>T (p.Arg158Cys) rs200841002 0.00006
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys) rs368812830 0.00006
NM_144573.4(NEXN):c.447+5C>T rs727503343 0.00006
NM_144672.4(OTOA):c.131T>C (p.Ile44Thr) rs730882117 0.00006
NM_147196.3(TMIE):c.101C>T (p.Thr34Met) rs763490939 0.00006
NM_153676.4(USH1C):c.1678G>C (p.Ala560Pro) rs367952604 0.00006
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423 0.00006
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_178335.3(CCDC50):c.546G>C (p.Glu182Asp) rs201472875 0.00006
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00006
NM_182548.4(LHFPL5):c.472C>T (p.Arg158Trp) rs753739358 0.00006
NM_194248.3(OTOF):c.3091A>G (p.Ile1031Val) rs113433719 0.00006
NM_194248.3(OTOF):c.388G>A (p.Asp130Asn) rs756143591 0.00006
NM_194248.3(OTOF):c.959C>T (p.Ser320Leu) rs371666216 0.00006
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln) rs376555091 0.00006
NM_201596.3(CACNB2):c.1180G>A (p.Val394Ile) rs149793143 0.00006
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371 0.00006
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys) rs727503718 0.00006
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847 0.00006
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752 0.00006
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) rs111033419 0.00006
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val) rs727503732 0.00006
NM_206933.4(USH2A):c.5783T>C (p.Leu1928Pro) rs111033399 0.00006
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val) rs773405046 0.00006
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser) rs756041909 0.00006
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys) rs375278546 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NC_000007.14:g.107660715C>T rs555168273 0.00005
NM_000038.6(APC):c.4424C>T (p.Ala1475Val) rs375380414 0.00005
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071 0.00005
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His) rs768326843 0.00005
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met) rs267608089 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_000219.6(KCNE1):c.-5C>A rs191334763 0.00005
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000256.3(MYBPC3):c.1227-10C>T rs374673836 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.3190+4C>T rs571457875 0.00005
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His) rs117354682 0.00005
NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala) rs375774648 0.00005
NM_000257.4(MYH7):c.5559+4C>T rs727504319 0.00005
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011 0.00005
NM_000260.4(MYO7A):c.4735G>A (p.Glu1579Lys) rs374766654 0.00005
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys) rs762836180 0.00005
NM_000292.3(PHKA2):c.1042-12G>C rs747884026 0.00005
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg) rs199473128 0.00005
NM_000335.5(SCN5A):c.3337G>A (p.Asp1113Asn) rs199473195 0.00005
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) rs267607159 0.00005
NM_000441.2(SLC26A4):c.2242C>G (p.Leu748Val) rs727504813 0.00005
NM_000503.6(EYA1):c.299C>A (p.Thr100Asn) rs373501480 0.00005
NM_000503.6(EYA1):c.65G>A (p.Gly22Asp) rs727503049 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_001035.3(RYR2):c.9251G>A (p.Arg3084Gln) rs747605864 0.00005
NM_001038.6(SCNN1A):c.-23C>G rs377074479 0.00005
NM_001038603.3(MARVELD2):c.1438C>G (p.Leu480Val) rs767671073 0.00005
NM_001039141.3(TRIOBP):c.6776G>A (p.Arg2259His) rs554837585 0.00005
NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn) rs587780746 0.00005
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627 0.00005
NM_001080476.3(GRXCR1):c.231G>T (p.Gln77His) rs368876169 0.00005
NM_001105206.3(LAMA4):c.5380C>T (p.Arg1794Cys) rs781802725 0.00005
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721 0.00005
NM_001127453.2(GSDME):c.686dup (p.Asp229fs) rs777408599 0.00005
NM_001128840.3(CACNA1D):c.2254G>A (p.Val752Ile) rs962492548 0.00005
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser) rs372567331 0.00005
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp) rs397516599 0.00005
NM_001145809.2(MYH14):c.1174C>T (p.Arg392Trp) rs778312429 0.00005
NM_001145809.2(MYH14):c.1265C>G (p.Ala422Gly) rs372324948 0.00005
NM_001145809.2(MYH14):c.2458C>T (p.Arg820Cys) rs767984672 0.00005
NM_001145809.2(MYH14):c.3623C>T (p.Ala1208Val) rs758560911 0.00005
NM_001146079.2(CLDN14):c.273G>A (p.Ser91=) rs577393948 0.00005
NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser) rs368583838 0.00005
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val) rs764732977 0.00005
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser) rs766439271 0.00005
NM_001267550.2(TTN):c.103910G>A (p.Arg34637Gln) rs199642423 0.00005
NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met) rs377056111 0.00005
NM_001267550.2(TTN):c.11842C>T (p.Arg3948Cys) rs397517827 0.00005
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln) rs375652574 0.00005
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn) rs727505052 0.00005
NM_001267550.2(TTN):c.28466G>A (p.Arg9489Gln) rs189431308 0.00005
NM_001267550.2(TTN):c.28849G>A (p.Glu9617Lys) rs144025230 0.00005
NM_001267550.2(TTN):c.32803A>G (p.Lys10935Glu) rs397517543 0.00005
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.49649-11T>C rs727504474 0.00005
NM_001267550.2(TTN):c.51185G>A (p.Ser17062Asn) rs876658064 0.00005
NM_001267550.2(TTN):c.53924C>G (p.Thr17975Ser) rs727503605 0.00005
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln) rs376932266 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.54381+6C>G rs368265962 0.00005
NM_001267550.2(TTN):c.56296G>C (p.Ala18766Pro) rs727505268 0.00005
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) rs368025965 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00005
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr) rs527704660 0.00005
NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys) rs376455983 0.00005
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys) rs201614524 0.00005
NM_001267550.2(TTN):c.66959G>A (p.Arg22320His) rs771424865 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) rs367914610 0.00005
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp) rs372787601 0.00005
NM_001267550.2(TTN):c.74545C>T (p.Arg24849Trp) rs727503562 0.00005
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252 0.00005
NM_001267550.2(TTN):c.84362C>A (p.Thr28121Lys) rs397517726 0.00005
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His) rs397517744 0.00005
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp) rs397517755 0.00005
NM_001267550.2(TTN):c.93130G>A (p.Gly31044Ser) rs750213547 0.00005
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr) rs376039623 0.00005
NM_001267550.2(TTN):c.97480C>T (p.Arg32494Cys) rs727503539 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln) rs371531675 0.00005
NM_001267550.2(TTN):c.99940C>T (p.Pro33314Ser) rs754605294 0.00005
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His) rs397516484 0.00005
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) rs141121678 0.00005
NM_001286445.3(RIPOR2):c.965G>A (p.Arg322Gln) rs745837159 0.00005
NM_001292063.2(OTOG):c.6967C>T (p.Arg2323Trp) rs755149839 0.00005
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu) rs199706698 0.00005
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu) rs397517455 0.00005
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln) rs562377533 0.00005
NM_001384474.1(LOXHD1):c.1844G>A (p.Arg615Gln) rs546893082 0.00005
NM_001384474.1(LOXHD1):c.5357A>G (p.Asn1786Ser) rs192929296 0.00005
NM_002230.4(JUP):c.998G>A (p.Arg333His) rs727503099 0.00005
NM_002294.3(LAMP2):c.158G>A (p.Arg53His) rs397516735 0.00005
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_002471.4(MYH6):c.1582-7C>T rs374941865 0.00005
NM_002473.6(MYH9):c.4297C>T (p.Arg1433Cys) rs727503286 0.00005
NM_002906.4(RDX):c.1282A>G (p.Ile428Val) rs572843421 0.00005
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) rs137852765 0.00005
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala) rs397516859 0.00005
NM_003803.4(MYOM1):c.3278C>T (p.Ala1093Val) rs749676865 0.00005
NM_004281.4(BAG3):c.872C>T (p.Ser291Leu) rs368866313 0.00005
NM_004415.4(DSP):c.727-10T>G rs375327581 0.00005
NM_004415.4(DSP):c.916G>A (p.Ala306Thr) rs368193211 0.00005
NM_004700.4(KCNQ4):c.1193A>G (p.Glu398Gly) rs773975779 0.00005
NM_005379.4(MYO1A):c.2572A>G (p.Lys858Glu) rs142017261 0.00005
NM_005422.4(TECTA):c.2077G>A (p.Gly693Arg) rs200502160 0.00005
NM_005633.4(SOS1):c.587C>T (p.Ser196Leu) rs199898869 0.00005
NM_005633.4(SOS1):c.841A>G (p.Ser281Gly) rs397517178 0.00005
NM_006231.4(POLE):c.1957G>T (p.Ala653Ser) rs751451482 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala) rs397517211 0.00005
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00005
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala) rs377064301 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys) rs142465521 0.00005
NM_017433.5(MYO3A):c.230A>C (p.Asn77Thr) rs1232229010 0.00005
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys) rs200149713 0.00005
NM_022114.4(PRDM16):c.1517C>T (p.Thr506Met) rs368543415 0.00005
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg) rs372822465 0.00005
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu) rs771317730 0.00005
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779 0.00005
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp) rs745335831 0.00005
NM_033118.4(MYLK2):c.1123G>A (p.Asp375Asn) rs397517472 0.00005
NM_057176.3(BSND):c.770A>G (p.Gln257Arg) rs199696535 0.00005
NM_133261.3(GIPC3):c.-15C>T rs1214727223 0.00005
NM_133379.5(TTN):c.10837G>A (p.Ala3613Thr) rs144967245 0.00005
NM_133379.5(TTN):c.12536A>C (p.Glu4179Ala) rs568690706 0.00005
NM_133379.5(TTN):c.14114G>A (p.Arg4705Gln) rs144127396 0.00005
NM_133379.5(TTN):c.14767A>G (p.Thr4923Ala) rs773571719 0.00005
NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys) rs369890353 0.00005
NM_144498.4(OSBPL2):c.226G>A (p.Val76Met) rs777865483 0.00005
NM_144573.4(NEXN):c.865-5G>A rs727505353 0.00005
NM_153676.4(USH1C):c.1234G>A (p.Asp412Asn) rs727503712 0.00005
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr) rs201104489 0.00005
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys) rs141771249 0.00005
NM_153700.2(STRC):c.2494C>T (p.Arg832Trp) rs876658007 0.00005
NM_153700.2(STRC):c.2495G>A (p.Arg832Gln) rs1425015832 0.00005
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr) rs727503447 0.00005
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) rs267607570 0.00005
NM_182548.4(LHFPL5):c.648C>T (p.Thr216=) rs17852586 0.00005
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln) rs147978393 0.00005
NM_194248.3(OTOF):c.3865-12G>A rs374902867 0.00005
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527 0.00005
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met) rs201847741 0.00005
NM_206933.4(USH2A):c.1816G>C (p.Asp606His) rs111033410 0.00005
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637 0.00004
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228 0.00004
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454 0.00004
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516 0.00004
NM_000116.5(TAFAZZIN):c.584-7T>C rs397515745 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys) rs369456858 0.00004
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr) rs141344760 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 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.1294G>A (p.Ala432Thr) rs371167525 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.2381C>T (p.Pro794Leu) rs730880565 0.00004
NM_000256.3(MYBPC3):c.2560A>G (p.Met854Val) rs373171036 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.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr) rs397516026 0.00004
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys) rs397516033 0.00004
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu) rs727503216 0.00004
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn) rs397516106 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.4348G>A (p.Asp1450Asn) rs397516211 0.00004
NM_000257.4(MYH7):c.4721G>A (p.Arg1574Gln) rs779715863 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.5459G>A (p.Arg1820Gln) rs371855540 0.00004
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu) rs727503242 0.00004
NM_000258.3(MYL3):c.*5C>T rs727505197 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_000260.4(MYO7A):c.1232T>C (p.Val411Ala) rs369916141 0.00004
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566 0.00004
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln) rs781812509 0.00004
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His) rs199607235 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) rs376291076 0.00004
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) rs201321140 0.00004
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654 0.00004
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu) rs781893704 0.00004
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln) rs41311087 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.677C>T (p.Ala226Val) rs199473561 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_000337.6(SGCD):c.4-12C>T rs727504580 0.00004
NM_000363.5(TNNI3):c.236G>T (p.Arg79Leu) rs397516342 0.00004
NM_000432.4(MYL2):c.459G>C (p.Lys153Asn) rs149078011 0.00004
NM_000441.2(SLC26A4):c.463A>G (p.Met155Val) rs201931861 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000501.4(ELN):c.1951G>A (p.Gly651Arg) rs34852121 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860 0.00004
NM_001005242.3(PKP2):c.1379-2102C>G rs762631031 0.00004
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320 0.00004
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val) rs143503798 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.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
NM_001013838.3(CARMIL2):c.2672A>C (p.Gln891Pro) rs769736838 0.00004
NM_001018005.2(TPM1):c.240+4457A>T rs397516489 0.00004
NM_001018116.2(CAVIN4):c.920G>C (p.Ser307Thr) rs751703046 0.00004
NM_001032283.3(TMPO):c.614G>A (p.Arg205Lys) rs727504952 0.00004
NM_001035.3(RYR2):c.10495-14A>G rs727505057 0.00004
NM_001035.3(RYR2):c.11132T>A (p.Val3711Glu) rs1036775644 0.00004
NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His) rs190009333 0.00004
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe) rs727504508 0.00004
NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr) rs772551383 0.00004
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951 0.00004
NM_001035.3(RYR2):c.5494G>A (p.Gly1832Ser) rs727504983 0.00004
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013 0.00004
NM_001035.3(RYR2):c.7076G>A (p.Arg2359Gln) rs727504976 0.00004
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr) rs397516550 0.00004
NM_001035.3(RYR2):c.9736A>G (p.Met3246Val) rs745839689 0.00004
NM_001039141.3(TRIOBP):c.5198C>T (p.Pro1733Leu) rs373745908 0.00004
NM_001039141.3(TRIOBP):c.5519G>A (p.Arg1840His) rs376340052 0.00004
NM_001039141.3(TRIOBP):c.6196G>A (p.Glu2066Lys) rs564506970 0.00004
NM_001039141.3(TRIOBP):c.6308C>T (p.Pro2103Leu) rs200250028 0.00004
NM_001039213.4(CEACAM16):c.1267+1G>A rs766512544 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001103.4(ACTN2):c.1899T>G (p.His633Gln) rs727505112 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001105206.3(LAMA4):c.1503T>A (p.Asp501Glu) rs370194991 0.00004
NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu) rs727505123 0.00004
NM_001114753.3(ENG):c.1742-15G>A rs201678228 0.00004
NM_001134363.3(RBM20):c.1338-11G>A rs372064165 0.00004
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly) rs561904103 0.00004
NM_001134363.3(RBM20):c.3574-6C>G rs762069628 0.00004
NM_001145809.2(MYH14):c.4439G>A (p.Arg1480His) rs187782753 0.00004
NM_001145809.2(MYH14):c.5530G>A (p.Gly1844Arg) rs375748088 0.00004
NM_001146079.2(CLDN14):c.83C>T (p.Pro28Leu) rs727504989 0.00004
NM_001148.6(ANK2):c.4369A>G (p.Lys1457Glu) rs369038140 0.00004
NM_001199107.2(TBC1D24):c.1576C>T (p.Arg526Cys) rs767145914 0.00004
NM_001199799.2(ILDR1):c.352C>T (p.Arg118Trp) rs774128939 0.00004
NM_001232.4(CASQ2):c.376G>C (p.Asp126His) rs727502908 0.00004
NM_001267550.2(TTN):c.101822G>C (p.Arg33941Thr) rs762498249 0.00004
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr) rs727505196 0.00004
NM_001267550.2(TTN):c.10679-10G>C rs397517832 0.00004
NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val) rs373152640 0.00004
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln) rs202017278 0.00004
NM_001267550.2(TTN):c.16234G>A (p.Ala5412Thr) rs727504442 0.00004
NM_001267550.2(TTN):c.18173G>A (p.Arg6058His) rs376012117 0.00004
NM_001267550.2(TTN):c.2084T>C (p.Val695Ala) rs727503702 0.00004
NM_001267550.2(TTN):c.21544C>T (p.Arg7182Trp) rs727504736 0.00004
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu) rs183482849 0.00004
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) rs200061856 0.00004
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu) rs200598509 0.00004
NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn) rs397517506 0.00004
NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile) rs397517507 0.00004
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met) rs727504515 0.00004
NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp) rs190600127 0.00004
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln) rs570608843 0.00004
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr) rs369094355 0.00004
NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr) rs769226745 0.00004
NM_001267550.2(TTN):c.32095+1G>A rs727503636 0.00004
NM_001267550.2(TTN):c.39385G>A (p.Val13129Ile) rs774557269 0.00004
NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly) rs190461403 0.00004
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001267550.2(TTN):c.41474G>A (p.Arg13825Gln) rs727504774 0.00004
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr) rs397517571 0.00004
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe) rs371299188 0.00004
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His) rs397517593 0.00004
NM_001267550.2(TTN):c.5132C>T (p.Ser1711Phe) rs397517641 0.00004
NM_001267550.2(TTN):c.51841T>C (p.Trp17281Arg) rs368846015 0.00004
NM_001267550.2(TTN):c.54091A>G (p.Ser18031Gly) rs397517615 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001267550.2(TTN):c.55915G>A (p.Val18639Met) rs727503596 0.00004
NM_001267550.2(TTN):c.56872G>A (p.Asp18958Asn) rs576158850 0.00004
NM_001267550.2(TTN):c.57971G>A (p.Arg19324Gln) rs186809500 0.00004
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile) rs397517636 0.00004
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp) rs397517640 0.00004
NM_001267550.2(TTN):c.62780G>A (p.Arg20927His) rs397517652 0.00004
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser) rs375401971 0.00004
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys) rs374727686 0.00004
NM_001267550.2(TTN):c.65161T>C (p.Cys21721Arg) rs745497694 0.00004
NM_001267550.2(TTN):c.65782C>T (p.Arg21928Trp) rs371856109 0.00004
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg) rs372388682 0.00004
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys) rs397517687 0.00004
NM_001267550.2(TTN):c.72488G>A (p.Arg24163His) rs374712231 0.00004
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp) rs567446185 0.00004
NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala) rs397517712 0.00004
NM_001267550.2(TTN):c.80323G>A (p.Val26775Met) rs370589806 0.00004
NM_001267550.2(TTN):c.92561T>C (p.Ile30854Thr) rs368427408 0.00004
NM_001267550.2(TTN):c.93968C>T (p.Ala31323Val) rs200345129 0.00004
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His) rs727503545 0.00004
NM_001267550.2(TTN):c.95806G>A (p.Asp31936Asn) rs267599025 0.00004
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met) rs375640847 0.00004
NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys) rs55915651 0.00004
NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly) rs55634230 0.00004
NM_001267550.2(TTN):c.98161G>A (p.Val32721Ile) rs533651182 0.00004
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) rs397516450 0.00004
NM_001276345.2(TNNT2):c.601-7G>A rs369759523 0.00004
NM_001276345.2(TNNT2):c.720-7C>T rs376303087 0.00004
NM_001277115.2(DNAH11):c.11267G>A (p.Arg3756His) rs554657293 0.00004
NM_001277115.2(DNAH11):c.6152C>T (p.Thr2051Met) rs375341444 0.00004
NM_001283009.2(RTEL1):c.1596-8G>A rs374702981 0.00004
NM_001292063.2(OTOG):c.4588C>G (p.Leu1530Val) rs766929865 0.00004
NM_001292063.2(OTOG):c.6350C>T (p.Ala2117Val) rs535700451 0.00004
NM_001292063.2(OTOG):c.8653C>T (p.Arg2885Cys) rs185641221 0.00004
NM_001330691.3(CEP78):c.284G>A (p.Arg95His) rs371010271 0.00004
NM_001354604.2(MITF):c.666+5T>C rs374067688 0.00004
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335 0.00004
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile) rs746662023 0.00004
NM_001376256.1(CRYM):c.343A>G (p.Ile115Val) rs201490017 0.00004
NM_001378609.3(OTOGL):c.3484G>A (p.Glu1162Lys) rs374891321 0.00004
NM_001378609.3(OTOGL):c.6901A>G (p.Thr2301Ala) rs778901457 0.00004
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val) rs373453298 0.00004
NM_001384140.1(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826 0.00004
NM_001384140.1(PCDH15):c.2936T>C (p.Phe979Ser) rs150891423 0.00004
NM_001384140.1(PCDH15):c.3667A>T (p.Ile1223Phe) rs752490775 0.00004
NM_001384474.1(LOXHD1):c.4190G>A (p.Arg1397His) rs727505122 0.00004
NM_001384474.1(LOXHD1):c.6197C>T (p.Thr2066Met) rs368303635 0.00004
NM_001384474.1(LOXHD1):c.6229A>T (p.Ile2077Phe) rs563899816 0.00004
NM_001386795.1(DTNA):c.1346+5G>C rs397517448 0.00004
NM_001393500.2(TOMT):c.92T>G (p.Val31Gly) rs574631765 0.00004
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr) rs200653747 0.00004
NM_001613.4(ACTA2):c.607G>A (p.Val203Ile) rs397516684 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_001927.4(DES):c.937G>A (p.Ala313Thr) rs766252091 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.208A>G (p.Ile70Val) rs769713919 0.00004
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys) rs201845396 0.00004
NM_001943.5(DSG2):c.3129T>G (p.Asn1043Lys) rs727502992 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_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.1331G>A (p.Arg444His) rs369507567 0.00004
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479 0.00004
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile) rs141574558 0.00004
NM_002294.3(LAMP2):c.65-13T>A rs727503121 0.00004
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr) rs556536964 0.00004
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His) rs533942127 0.00004
NM_002471.4(MYH6):c.5485G>C (p.Glu1829Gln) rs727504626 0.00004
NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val) rs373076710 0.00004
NM_002471.4(MYH6):c.928G>A (p.Asp310Asn) rs374692396 0.00004
NM_002473.6(MYH9):c.2159+6C>T rs748916231 0.00004
NM_002473.6(MYH9):c.2714G>A (p.Arg905His) rs727503289 0.00004
NM_002524.5(NRAS):c.291-8G>A rs376187980 0.00004
NM_002880.4(RAF1):c.1663G>C (p.Asp555His) rs371704292 0.00004
NM_003001.5(SDHC):c.490A>T (p.Met164Leu) rs200375156 0.00004
NM_003036.4(SKI):c.1456G>A (p.Val486Ile) rs200717031 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) rs142019584 0.00004
NM_003803.4(MYOM1):c.3125C>T (p.Pro1042Leu) rs761951856 0.00004
NM_003803.4(MYOM1):c.3523T>G (p.Tyr1175Asp) rs370276820 0.00004
NM_004004.6(GJB2):c.-30C>T rs397516867 0.00004
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875 0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392 0.00004
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile) rs777510517 0.00004
NM_004006.3(DMD):c.1159A>G (p.Met387Val) rs770202940 0.00004
NM_004006.3(DMD):c.5208C>A (p.Asp1736Glu) rs144717862 0.00004
NM_004006.3(DMD):c.6118-13T>G rs750033728 0.00004
NM_004006.3(DMD):c.8582T>C (p.Val2861Ala) rs181284440 0.00004
NM_004100.5(EYA4):c.1223G>A (p.Arg408His) rs760787542 0.00004
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg) rs727503050 0.00004
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) rs776409783 0.00004
NM_004281.4(BAG3):c.181-15C>T rs397516882 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr) rs397516928 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 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.596G>A (p.Arg199Lys) rs143648545 0.00004
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr) rs144539278 0.00004
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr) rs371129517 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_004817.4(TJP2):c.904C>T (p.Arg302Trp) rs397516631 0.00004
NM_004985.5(KRAS):c.451-5518T>C rs752925099 0.00004
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00004
NM_005188.4(CBL):c.1360A>G (p.Asn454Asp) rs371850672 0.00004
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu) rs533554769 0.00004
NM_005188.4(CBL):c.2206A>G (p.Asn736Asp) rs397507497 0.00004
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276 0.00004
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys) rs746795014 0.00004
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg) rs374788809 0.00004
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144 0.00004
NM_005379.4(MYO1A):c.1678C>G (p.Pro560Ala) rs140586750 0.00004
NM_005422.4(TECTA):c.1327C>T (p.His443Tyr) rs745831106 0.00004
NM_005422.4(TECTA):c.2794G>C (p.Val932Leu) rs200340759 0.00004
NM_005422.4(TECTA):c.358G>T (p.Ala120Ser) rs370688947 0.00004
NM_005422.4(TECTA):c.5007G>T (p.Gln1669His) rs1047688327 0.00004
NM_005422.4(TECTA):c.613G>C (p.Val205Leu) rs375107647 0.00004
NM_005422.4(TECTA):c.956C>A (p.Thr319Asn) rs372483012 0.00004
NM_005472.5(KCNE3):c.2T>C (p.Met1Thr) rs765329541 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile) rs727504641 0.00004
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr) rs151244358 0.00004
NM_006005.3(WFS1):c.2299A>C (p.Ile767Leu) rs779199009 0.00004
NM_006079.5(CITED2):c.382C>T (p.Pro128Ser) rs767546559 0.00004
NM_006231.4(POLE):c.4477G>A (p.Ala1493Thr) rs748522633 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.6135C>T (p.Pro2045=) rs368662693 0.00004
NM_006329.4(FBLN5):c.1318C>T (p.Arg440Trp) rs373274789 0.00004
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys) rs146198369 0.00004
NM_006393.3(NEBL):c.1205A>C (p.Tyr402Ser) rs375569591 0.00004
NM_006393.3(NEBL):c.182C>T (p.Ser61Phe) rs543765307 0.00004
NM_006393.3(NEBL):c.561G>C (p.Gln187His) rs75301590 0.00004
NM_007078.3(LDB3):c.530C>T (p.Ala177Val) rs397517224 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_014000.3(VCL):c.185T>C (p.Val62Ala) rs769799445 0.00004
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe) rs565398652 0.00004
NM_014000.3(VCL):c.3092G>A (p.Arg1031Gln) rs397517238 0.00004
NM_014000.3(VCL):c.3373C>T (p.Arg1125Cys) rs373317423 0.00004
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg) rs397517266 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_016239.4(MYO15A):c.754C>G (p.His252Asp) rs747721069 0.00004
NM_016239.4(MYO15A):c.9025C>T (p.Pro3009Ser) rs751006503 0.00004
NM_016239.4(MYO15A):c.9329G>A (p.Arg3110Gln) rs199900657 0.00004
NM_016366.3(CABP2):c.32G>A (p.Arg11Gln) rs201383534 0.00004
NM_017433.5(MYO3A):c.3086A>G (p.Asp1029Gly) rs374226960 0.00004
NM_017433.5(MYO3A):c.4094A>C (p.Gln1365Pro) rs528252728 0.00004
NM_017433.5(MYO3A):c.743C>G (p.Pro248Arg) rs780657075 0.00004
NM_017460.6(CYP3A4):c.1463C>A (p.Pro488His) rs765598920 0.00004
NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr) rs368609862 0.00004
NM_017780.4(CHD7):c.6694A>G (p.Ile2232Val) rs1329751221 0.00004
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) rs113938624 0.00004
NM_017950.4(CCDC40):c.940-7G>A rs727504972 0.00004
NM_020297.4(ABCC9):c.*5G>C rs876657736 0.00004
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn) rs727502920 0.00004
NM_022124.6(CDH23):c.1450-10G>A rs751220612 0.00004
NM_022124.6(CDH23):c.1745G>A (p.Arg582Gln) rs200263980 0.00004
NM_022124.6(CDH23):c.2500C>T (p.Arg834Cys) rs372387390 0.00004
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00004
NM_022124.6(CDH23):c.2876C>T (p.Ala959Val) rs779133533 0.00004
NM_022124.6(CDH23):c.499G>A (p.Val167Ile) rs772995621 0.00004
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln) rs375083901 0.00004
NM_022124.6(CDH23):c.5713-9A>G rs397517343 0.00004
NM_022124.6(CDH23):c.5807G>A (p.Arg1936His) rs558551826 0.00004
NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr) rs368381520 0.00004
NM_022124.6(CDH23):c.623C>T (p.Thr208Ile) rs749123528 0.00004
NM_022124.6(CDH23):c.6655G>A (p.Asp2219Asn) rs555684781 0.00004
NM_022124.6(CDH23):c.7615G>C (p.Gly2539Arg) rs373649718 0.00004
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln) rs727502936 0.00004
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys) rs201094625 0.00004
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg) rs397517384 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu) rs397517394 0.00004
NM_024422.6(DSC2):c.776-12T>G rs397517403 0.00004
NM_024915.4(GRHL2):c.83C>G (p.Ala28Gly) rs561693958 0.00004
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277 0.00004
NM_030662.4(MAP2K2):c.289A>T (p.Ile97Phe) rs373579939 0.00004
NM_030662.4(MAP2K2):c.93-6C>T rs727504836 0.00004
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017 0.00004
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe) rs533184563 0.00004
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr) rs376376418 0.00004
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys) rs766007827 0.00004
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg) rs200974394 0.00004
NM_032119.4(ADGRV1):c.6578T>C (p.Ile2193Thr) rs201999622 0.00004
NM_032119.4(ADGRV1):c.854G>A (p.Arg285His) rs397517439 0.00004
NM_032119.4(ADGRV1):c.8591C>T (p.Thr2864Met) rs397517440 0.00004
NM_032495.6(HOPX):c.124G>A (p.Val42Ile) rs483353075 0.00004
NM_033056.4(PCDH15):c.5033C>T (p.Ser1678Leu) rs143438666 0.00004
NM_033056.4(PCDH15):c.5614A>G (p.Lys1872Glu) rs147727092 0.00004
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met) rs727504591 0.00004
NM_057176.3(BSND):c.482C>T (p.Ala161Val) rs369618892 0.00004
NM_080680.3(COL11A2):c.1136G>A (p.Arg379Gln) rs150429851 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_080680.3(COL11A2):c.4055C>T (p.Pro1352Leu) rs763995767 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_133379.5(TTN):c.10645C>T (p.Arg3549Cys) rs201047740 0.00004
NM_133379.5(TTN):c.13951A>G (p.Ser4651Gly) rs190193836 0.00004
NM_133379.5(TTN):c.14881C>T (p.Arg4961Cys) rs565101305 0.00004
NM_133379.5(TTN):c.15182G>A (p.Arg5061Lys) rs727503664 0.00004
NM_133379.5(TTN):c.15755A>G (p.Glu5252Gly) rs727503663 0.00004
NM_133379.5(TTN):c.15782T>C (p.Ile5261Thr) rs375197115 0.00004
NM_133379.5(TTN):c.15926A>G (p.Glu5309Gly) rs150017914 0.00004
NM_133379.5(TTN):c.16471A>C (p.Met5491Leu) rs191751905 0.00004
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter) rs148430495 0.00004
NM_138691.3(TMC1):c.1567-14T>G rs727503485 0.00004
NM_139319.3(SLC17A8):c.547G>A (p.Gly183Arg) rs150737570 0.00004
NM_139319.3(SLC17A8):c.854C>T (p.Thr285Ile) rs727503424 0.00004
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter) rs750076188 0.00004
NM_144573.4(NEXN):c.836G>A (p.Arg279His) rs750349053 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_144672.4(OTOA):c.1807G>T (p.Val603Phe) rs775686301 0.00004
NM_144991.3(TSPEAR):c.1079A>G (p.Lys360Arg) rs375829414 0.00004
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys) rs782088056 0.00004
NM_152594.3(SPRED1):c.424-5A>G rs752656697 0.00004
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875 0.00004
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) rs372227474 0.00004
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) rs876658111 0.00004
NM_153700.2(STRC):c.3794C>T (p.Pro1265Leu) rs371994634 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_174878.3(CLRN1):c.254-2054G>C rs185457278 0.00004
NM_178335.3(CCDC50):c.353A>G (p.Glu118Gly) rs753554570 0.00004
NM_194248.3(OTOF):c.2956C>T (p.Arg986Cys) rs201198797 0.00004
NM_194248.3(OTOF):c.5566C>T (p.Arg1856Trp) rs368155547 0.00004
NM_199069.2(NDUFAF3):c.180_181insT (p.Asp61Ter) rs752864722 0.00004
NM_201384.3(PLEC):c.6667C>T (p.Arg2223Cys) rs200620255 0.00004
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166 0.00004
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu) rs727503714 0.00004
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys) rs570446209 0.00004
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln) rs192524347 0.00004
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) rs146916397 0.00004
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) rs201026468 0.00004
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu) rs143107117 0.00004
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu) rs397518044 0.00004
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr) rs758614136 0.00004
NM_213569.2(NEBL):c.125A>G (p.Asn42Ser) rs727503340 0.00004
NM_000038.6(APC):c.1904G>C (p.Gly635Ala) rs730881239 0.00003
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00003
NM_000138.5(FBN1):c.164+5A>G rs397515760 0.00003
NM_000138.5(FBN1):c.378A>G (p.Gly126=) rs149611106 0.00003
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser) rs193922242 0.00003
NM_000169.3(GLA):c.639+6A>C rs200096940 0.00003
NM_000179.3(MSH6):c.3604A>T (p.Met1202Leu) rs369778514 0.00003
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787 0.00003
NM_000218.3(KCNQ1):c.181C>A (p.Pro61Thr) rs1273257287 0.00003
NM_000218.3(KCNQ1):c.484G>A (p.Val162Met) rs199472692 0.00003
NM_000219.6(KCNE1):c.-13C>T rs745925445 0.00003
NM_000219.6(KCNE1):c.107G>A (p.Arg36His) rs199473351 0.00003
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) rs199473644 0.00003
NM_000219.6(KCNE1):c.172A>C (p.Thr58Pro) rs147187721 0.00003
NM_000219.6(KCNE1):c.176T>C (p.Leu59Pro) rs141813529 0.00003
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) rs199473360 0.00003
NM_000219.6(KCNE1):c.293G>A (p.Arg98Gln) rs150454912 0.00003
NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val) rs780656919 0.00003
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu) rs63750226 0.00003
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln) rs63749900 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.121C>T (p.Arg41Cys) rs373638535 0.00003
NM_000256.3(MYBPC3):c.1670G>A (p.Gly557Asp) rs730880549 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 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.2828G>A (p.Arg943Gln) rs397515986 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.373G>T (p.Ala125Ser) rs370958401 0.00003
NM_000256.3(MYBPC3):c.405A>G (p.Lys135=) rs727504318 0.00003
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys) rs397516069 0.00003
NM_000256.3(MYBPC3):c.758A>G (p.Asn253Ser) rs727503214 0.00003
NM_000256.3(MYBPC3):c.994G>A (p.Glu332Lys) rs397516086 0.00003
NM_000257.4(MYH7):c.161G>A (p.Arg54Gln) rs397516117 0.00003
NM_000257.4(MYH7):c.2599G>A (p.Glu867Lys) rs558673680 0.00003
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys) rs45511396 0.00003
NM_000257.4(MYH7):c.5088G>C (p.Glu1696Asp) rs373219734 0.00003
NM_000258.3(MYL3):c.91C>T (p.Arg31Cys) rs377026344 0.00003
NM_000258.3(MYL3):c.92G>A (p.Arg31His) rs199639940 0.00003
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly) rs111033339 0.00003
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr) rs782726270 0.00003
NM_000260.4(MYO7A):c.2836A>C (p.Met946Leu) rs1357072694 0.00003
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302 0.00003
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710 0.00003
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403 0.00003
NM_000260.4(MYO7A):c.4222C>G (p.Arg1408Gly) rs377391891 0.00003
NM_000260.4(MYO7A):c.440G>A (p.Arg147His) rs111033512 0.00003
NM_000260.4(MYO7A):c.4910A>G (p.His1637Arg) rs372054499 0.00003
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val) rs574917232 0.00003
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu) rs572959359 0.00003
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) rs762258869 0.00003
NM_000268.4(NF2):c.1490G>C (p.Ser497Thr) rs900545157 0.00003
NM_000307.5(POU3F4):c.353C>T (p.Pro118Leu) rs760582733 0.00003
NM_000307.5(POU3F4):c.483C>A (p.Ser161Arg) rs727503376 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000335.5(SCN5A):c.1880C>T (p.Pro627Leu) rs778522112 0.00003
NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=) rs755980331 0.00003
NM_000335.5(SCN5A):c.393-1C>T rs759235726 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.5371G>A (p.Asp1791Asn) rs727504495 0.00003
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln) rs727503423 0.00003
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys) rs768979513 0.00003
NM_000337.6(SGCD):c.699+72A>C rs376317697 0.00003
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu) rs375159661 0.00003
NM_000384.3(APOB):c.7853T>C (p.Ile2618Thr) rs531273434 0.00003
NM_000395.3(CSF2RB):c.673C>T (p.Arg225Cys) rs145546133 0.00003
NM_000414.4(HSD17B4):c.1452A>G (p.Ile484Met) rs376158204 0.00003
NM_000414.4(HSD17B4):c.1663A>G (p.Arg555Gly) rs561555159 0.00003
NM_000441.2(SLC26A4):c.1545-7del rs727503427 0.00003
NM_000441.2(SLC26A4):c.1996T>A (p.Ser666Thr) rs397516425 0.00003
NM_000441.2(SLC26A4):c.871C>T (p.Arg291Trp) rs775610413 0.00003
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln) rs587782364 0.00003
NM_000503.6(EYA1):c.1318C>T (p.Arg440Trp) rs376931849 0.00003
NM_000503.6(EYA1):c.1426G>A (p.Asp476Asn) rs371408686 0.00003
NM_000503.6(EYA1):c.692A>G (p.Asn231Ser) rs1563422226 0.00003
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057 0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878 0.00003
NM_000546.6(TP53):c.188C>G (p.Ala63Gly) rs372201428 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu) rs137854406 0.00003
NM_000601.6(HGF):c.659G>A (p.Arg220Gln) rs372600489 0.00003
NM_000720.4(CACNA1D):c.1502C>T (p.Ala501Val) rs748425556 0.00003
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val) rs397517002 0.00003
NM_001018005.2(TPM1):c.240+4430G>A rs397516490 0.00003
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) rs397516395 0.00003
NM_001032283.3(TMPO):c.1174C>T (p.Pro392Ser) rs727504622 0.00003
NM_001032283.3(TMPO):c.565+1917A>G rs727505217 0.00003
NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr) rs397516514 0.00003
NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr) rs761505396 0.00003
NM_001035.3(RYR2):c.719A>G (p.His240Arg) rs369512347 0.00003
NM_001038603.3(MARVELD2):c.1461T>G (p.Asp487Glu) rs727503161 0.00003
NM_001039141.3(TRIOBP):c.6170G>A (p.Arg2057His) rs377068258 0.00003
NM_001039141.3(TRIOBP):c.6830G>A (p.Arg2277Gln) rs775565659 0.00003
NM_001039213.4(CEACAM16):c.970G>A (p.Val324Met) rs747285667 0.00003
NM_001039876.3(SYNE4):c.1032-2A>T rs202107534 0.00003
NM_001039876.3(SYNE4):c.940C>T (p.His314Tyr) rs886101498 0.00003
NM_001042545.2(LTBP4):c.4165C>T (p.Pro1389Ser) rs766093064 0.00003
NM_001042702.5(PJVK):c.212-12C>A rs199967536 0.00003
NM_001042702.5(PJVK):c.437G>A (p.Arg146His) rs369805509 0.00003
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp) rs587778540 0.00003
NM_001089.3(ABCA3):c.2140C>T (p.Arg714Cys) rs867072001 0.00003
NM_001103.4(ACTN2):c.-3G>T rs201920417 0.00003
NM_001103.4(ACTN2):c.2003C>G (p.Thr668Arg) rs397516572 0.00003
NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys) rs145248415 0.00003
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290 0.00003
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln) rs727502888 0.00003
NM_001105206.3(LAMA4):c.1358-12A>G rs397516716 0.00003
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) rs750115837 0.00003
NM_001127453.2(GSDME):c.553G>A (p.Gly185Ser) rs376265514 0.00003
NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys) rs370001536 0.00003
NM_001128840.3(CACNA1D):c.1750G>A (p.Val584Ile) rs773365038 0.00003
NM_001128840.3(CACNA1D):c.6215G>A (p.Gly2072Glu) rs770605004 0.00003
NM_001145809.2(MYH14):c.1655C>T (p.Pro552Leu) rs727505282 0.00003
NM_001145809.2(MYH14):c.3259C>T (p.Arg1087Trp) rs368372273 0.00003
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln) rs377014092 0.00003
NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His) rs727504915 0.00003
NM_001145809.2(MYH14):c.4370G>A (p.Arg1457Gln) rs727503224 0.00003
NM_001145809.2(MYH14):c.4393C>T (p.Arg1465Cys) rs727505272 0.00003
NM_001145809.2(MYH14):c.4433G>A (p.Arg1478Gln) rs757168957 0.00003
NM_001145809.2(MYH14):c.4441C>T (p.Arg1481Cys) rs727503227 0.00003
NM_001145809.2(MYH14):c.5446C>T (p.Arg1816Cys) rs376798395 0.00003
NM_001195263.2(PDZD7):c.2011C>A (p.Arg671Ser) rs925832623 0.00003
NM_001195263.2(PDZD7):c.2639T>C (p.Ile880Thr) rs202192219 0.00003
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549 0.00003
NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His) rs201174513 0.00003
NM_001199799.2(ILDR1):c.1360G>A (p.Glu454Lys) rs727503097 0.00003
NM_001199799.2(ILDR1):c.1537C>T (p.Arg513Cys) rs767668911 0.00003
NM_001199799.2(ILDR1):c.451G>A (p.Gly151Arg) rs727503098 0.00003
NM_001199799.2(ILDR1):c.80C>T (p.Thr27Met) rs145984650 0.00003
NM_001206927.2(DNAH8):c.8053G>C (p.Ala2685Pro) rs373111234 0.00003
NM_001232.4(CASQ2):c.234+3A>G rs727502909 0.00003
NM_001232.4(CASQ2):c.757C>A (p.Arg253Ser) rs727504510 0.00003
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile) rs727503678 0.00003
NM_001267550.2(TTN):c.100829G>A (p.Gly33610Asp) rs373754986 0.00003
NM_001267550.2(TTN):c.103829G>A (p.Arg34610His) rs550047610 0.00003
NM_001267550.2(TTN):c.103913G>A (p.Arg34638His) rs371528685 0.00003
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln) rs397517788 0.00003
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp) rs397517796 0.00003
NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met) rs727504540 0.00003
NM_001267550.2(TTN):c.10682A>G (p.Gln3561Arg) rs727503676 0.00003
NM_001267550.2(TTN):c.107009G>C (p.Arg35670Thr) rs534961012 0.00003
NM_001267550.2(TTN):c.107285G>A (p.Arg35762Gln) rs397517800 0.00003
NM_001267550.2(TTN):c.11756C>A (p.Thr3919Asn) rs727503661 0.00003
NM_001267550.2(TTN):c.12103A>G (p.Met4035Val) rs727503659 0.00003
NM_001267550.2(TTN):c.1398+5G>A rs542965530 0.00003
NM_001267550.2(TTN):c.15778C>A (p.Pro5260Thr) rs727505108 0.00003
NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly) rs760722200 0.00003
NM_001267550.2(TTN):c.1816A>G (p.Arg606Gly) rs397517498 0.00003
NM_001267550.2(TTN):c.19054A>G (p.Arg6352Gly) rs569003242 0.00003
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn) rs397517493 0.00003
NM_001267550.2(TTN):c.22513A>G (p.Arg7505Gly) rs372826489 0.00003
NM_001267550.2(TTN):c.22531C>T (p.Pro7511Ser) rs727505333 0.00003
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys) rs397517502 0.00003
NM_001267550.2(TTN):c.2422C>T (p.Arg808Cys) rs149155733 0.00003
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) rs549604128 0.00003
NM_001267550.2(TTN):c.25046C>G (p.Ala8349Gly) rs397517513 0.00003
NM_001267550.2(TTN):c.26020G>A (p.Val8674Ile) rs375710902 0.00003
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser) rs370962244 0.00003
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) rs200325324 0.00003
NM_001267550.2(TTN):c.27676T>C (p.Cys9226Arg) rs372820178 0.00003
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) rs376287951 0.00003
NM_001267550.2(TTN):c.32555-12G>T rs397517540 0.00003
NM_001267550.2(TTN):c.32888-3C>A rs397517544 0.00003
NM_001267550.2(TTN):c.34894C>A (p.Leu11632Ile) rs727503633 0.00003
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys) rs397517577 0.00003
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) rs762128685 0.00003
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764 0.00003
NM_001267550.2(TTN):c.48359T>C (p.Val16120Ala) rs745999025 0.00003
NM_001267550.2(TTN):c.49366C>T (p.Arg16456Cys) rs727504986 0.00003
NM_001267550.2(TTN):c.50479C>T (p.Arg16827Trp) rs727503620 0.00003
NM_001267550.2(TTN):c.50812G>C (p.Glu16938Gln) rs72677250 0.00003
NM_001267550.2(TTN):c.5192A>G (p.Asp1731Gly) rs876658072 0.00003
NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser) rs762214300 0.00003
NM_001267550.2(TTN):c.5423A>C (p.Glu1808Ala) rs746238242 0.00003
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn) rs367799017 0.00003
NM_001267550.2(TTN):c.55973G>A (p.Arg18658Gln) rs370888932 0.00003
NM_001267550.2(TTN):c.5644C>T (p.Arg1882Cys) rs397517658 0.00003
NM_001267550.2(TTN):c.57300T>G (p.Asp19100Glu) rs876658069 0.00003
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val) rs374203813 0.00003
NM_001267550.2(TTN):c.59114G>A (p.Arg19705His) rs727503590 0.00003
NM_001267550.2(TTN):c.61631A>G (p.His20544Arg) rs876658073 0.00003
NM_001267550.2(TTN):c.61915T>C (p.Tyr20639His) rs727503587 0.00003
NM_001267550.2(TTN):c.62761C>A (p.Pro20921Thr) rs935268567 0.00003
NM_001267550.2(TTN):c.64193T>G (p.Ile21398Ser) rs727504754 0.00003
NM_001267550.2(TTN):c.64241G>A (p.Arg21414His) rs727504690 0.00003
NM_001267550.2(TTN):c.65371G>A (p.Gly21791Ser) rs370878527 0.00003
NM_001267550.2(TTN):c.68272G>A (p.Asp22758Asn) rs397517675 0.00003
NM_001267550.2(TTN):c.68525T>C (p.Ile22842Thr) rs368301580 0.00003
NM_001267550.2(TTN):c.69517G>A (p.Gly23173Arg) rs773592810 0.00003
NM_001267550.2(TTN):c.70477A>T (p.Thr23493Ser) rs375675901 0.00003
NM_001267550.2(TTN):c.70967C>T (p.Pro23656Leu) rs368938701 0.00003
NM_001267550.2(TTN):c.71981C>T (p.Ala23994Val) rs772886864 0.00003
NM_001267550.2(TTN):c.72232A>G (p.Ile24078Val) rs876658080 0.00003
NM_001267550.2(TTN):c.75274G>A (p.Glu25092Lys) rs397517700 0.00003
NM_001267550.2(TTN):c.75734G>A (p.Arg25245Lys) rs397517701 0.00003
NM_001267550.2(TTN):c.76199G>C (p.Cys25400Ser) rs397517704 0.00003
NM_001267550.2(TTN):c.77035A>C (p.Asn25679His) rs770512378 0.00003
NM_001267550.2(TTN):c.78062C>G (p.Pro26021Arg) rs727504982 0.00003
NM_001267550.2(TTN):c.81178G>T (p.Asp27060Tyr) rs372875889 0.00003
NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu) rs761633407 0.00003
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr) rs374022393 0.00003
NM_001267550.2(TTN):c.89893A>G (p.Ile29965Val) rs370135800 0.00003
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr) rs376942948 0.00003
NM_001267550.2(TTN):c.93182G>A (p.Arg31061His) rs727504923 0.00003
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr) rs727505175 0.00003
NM_001267550.2(TTN):c.95068G>A (p.Val31690Met) rs727503543 0.00003
NM_001267550.2(TTN):c.95557C>T (p.Arg31853Cys) rs727503542 0.00003
NM_001267550.2(TTN):c.9683C>G (p.Ser3228Cys) rs371249764 0.00003
NM_001267550.2(TTN):c.9701A>G (p.Asn3234Ser) rs397517791 0.00003
NM_001267550.2(TTN):c.97111A>G (p.Ile32371Val) rs397517766 0.00003
NM_001267550.2(TTN):c.9713C>T (p.Pro3238Leu) rs397517792 0.00003
NM_001267550.2(TTN):c.98075C>G (p.Thr32692Arg) rs727505311 0.00003
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met) rs191708454 0.00003
NM_001267550.2(TTN):c.9908C>T (p.Pro3303Leu) rs201379132 0.00003
NM_001267550.2(TTN):c.99290-6G>T rs727504987 0.00003
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_001277115.2(DNAH11):c.68C>T (p.Ser23Leu) rs745842220 0.00003
NM_001289808.2(CRYAB):c.368G>A (p.Arg123Gln) rs782206421 0.00003
NM_001292063.2(OTOG):c.2276C>T (p.Ala759Val) rs876657937 0.00003
NM_001292063.2(OTOG):c.4129C>T (p.Arg1377Cys) rs764931529 0.00003
NM_001292063.2(OTOG):c.6037C>T (p.Arg2013Cys) rs757086717 0.00003
NM_001292063.2(OTOG):c.764C>T (p.Ser255Leu) rs939158613 0.00003
NM_001330.5(CTF1):c.145-10G>A rs397516645 0.00003
NM_001330.5(CTF1):c.469G>A (p.Ala157Thr) rs876657768 0.00003
NM_001349253.2(SCN11A):c.1095T>G (p.Tyr365Ter) rs1440766335 0.00003
NM_001354604.2(MITF):c.1179+4C>T rs749869303 0.00003
NM_001354604.2(MITF):c.881-9C>G rs766938558 0.00003
NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter) rs781333877 0.00003
NM_001378454.1(ALMS1):c.6976A>G (p.Ser2326Gly) rs560736902 0.00003
NM_001378609.3(OTOGL):c.4746T>A (p.Asn1582Lys) rs910949216 0.00003
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His) rs752185665 0.00003
NM_001384140.1(PCDH15):c.128T>C (p.Ile43Thr) rs766772151 0.00003
NM_001384140.1(PCDH15):c.1985A>G (p.Asn662Ser) rs373731707 0.00003
NM_001384140.1(PCDH15):c.3521G>A (p.Gly1174Asp) rs150387187 0.00003
NM_001384140.1(PCDH15):c.466G>C (p.Val156Leu) rs534173969 0.00003
NM_001384140.1(PCDH15):c.470A>G (p.Asn157Ser) rs727503368 0.00003
NM_001384140.1(PCDH15):c.679C>T (p.Arg227Cys) rs565693539 0.00003
NM_001384140.1(PCDH15):c.809T>G (p.Leu270Arg) rs727503367 0.00003
NM_001384474.1(LOXHD1):c.1828G>A (p.Glu610Lys) rs535637788 0.00003
NM_001384474.1(LOXHD1):c.2288C>T (p.Ala763Val) rs876657858 0.00003
NM_001384474.1(LOXHD1):c.277G>A (p.Asp93Asn) rs747038125 0.00003
NM_001384474.1(LOXHD1):c.3218C>G (p.Thr1073Arg) rs1353205519 0.00003
NM_001384474.1(LOXHD1):c.5095G>A (p.Asp1699Asn) rs727504848 0.00003
NM_001384474.1(LOXHD1):c.5170A>T (p.Met1724Leu) rs200930427 0.00003
NM_001384474.1(LOXHD1):c.5623G>A (p.Val1875Ile) rs367623969 0.00003
NM_001384474.1(LOXHD1):c.6068A>G (p.Glu2023Gly) rs572863376 0.00003
NM_001393500.2(TOMT):c.167A>G (p.His56Arg) rs957857044 0.00003
NM_001393500.2(TOMT):c.681T>G (p.Cys227Trp) rs886048633 0.00003
NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly) rs777642924 0.00003
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala) rs727502991 0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 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_002230.4(JUP):c.1379G>A (p.Arg460His) rs397517296 0.00003
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr) rs727504778 0.00003
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala) rs138374063 0.00003
NM_002458.3(MUC5B):c.16960G>C (p.Glu5654Gln) rs375272740 0.00003
NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp) rs753444140 0.00003
NM_002471.4(MYH6):c.233A>G (p.Gln78Arg) rs772216708 0.00003
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) rs727503236 0.00003
NM_002471.4(MYH6):c.3860-15T>G rs200883903 0.00003
NM_002471.4(MYH6):c.5101C>T (p.Arg1701Trp) rs765737102 0.00003
NM_002473.6(MYH9):c.193G>A (p.Val65Met) rs377348805 0.00003
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp) rs727503281 0.00003
NM_002691.4(POLD1):c.1157G>A (p.Arg386His) rs764023083 0.00003
NM_002691.4(POLD1):c.1552C>A (p.Leu518Met) rs149043082 0.00003
NM_002691.4(POLD1):c.1955G>A (p.Arg652Gln) rs778037523 0.00003
NM_002691.4(POLD1):c.2954G>C (p.Arg985Pro) rs749159160 0.00003
NM_002691.4(POLD1):c.758+5G>A rs760003191 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002755.4(MAP2K1):c.875C>T (p.Thr292Ile) rs397516794 0.00003
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437 0.00003
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met) rs397516851 0.00003
NM_003476.5(CSRP3):c.191G>A (p.Arg64His) rs375014380 0.00003
NM_003664.5(AP3B1):c.2572A>G (p.Ile858Val) rs150765181 0.00003
NM_003673.4(TCAP):c.269C>T (p.Pro90Leu) rs727504427 0.00003
NM_003803.4(MYOM1):c.158C>T (p.Ala53Val) rs747035411 0.00003
NM_004006.3(DMD):c.31+83105G>A rs772161214 0.00003
NM_004086.3(COCH):c.35G>A (p.Gly12Asp) rs1213767677 0.00003
NM_004415.4(DSP):c.1501G>A (p.Val501Ile) rs368778031 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.4105G>A (p.Glu1369Lys) rs141805096 0.00003
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val) rs145796901 0.00003
NM_004415.4(DSP):c.485G>T (p.Arg162Leu) rs397516944 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.607G>A (p.Asp203Asn) rs374100807 0.00003
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val) rs768837509 0.00003
NM_004415.4(DSP):c.7588A>T (p.Ile2530Phe) rs397516958 0.00003
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser) rs397516959 0.00003
NM_004415.4(DSP):c.860A>G (p.Asn287Ser) rs138872423 0.00003
NM_004447.6(EPS8):c.793C>T (p.Arg265Cys) rs749500838 0.00003
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696 0.00003
NM_004700.4(KCNQ4):c.1162C>T (p.Arg388Trp) rs371079509 0.00003
NM_004700.4(KCNQ4):c.1201C>T (p.Arg401Trp) rs754165873 0.00003
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) rs367890569 0.00003
NM_004700.4(KCNQ4):c.834G>T (p.Thr278=) rs766877660 0.00003
NM_004817.4(TJP2):c.2987C>T (p.Pro996Leu) rs727504634 0.00003
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln) rs201144827 0.00003
NM_004999.4(MYO6):c.2552A>C (p.Asp851Ala) rs142423106 0.00003
NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro) rs727505048 0.00003
NM_004999.4(MYO6):c.3236A>G (p.Lys1079Arg) rs753378509 0.00003
NM_004999.4(MYO6):c.3386G>A (p.Arg1129His) rs779885818 0.00003
NM_004999.4(MYO6):c.3679T>C (p.Cys1227Arg) rs370061746 0.00003
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu) rs373989524 0.00003
NM_005188.4(CBL):c.1676G>T (p.Arg559Leu) rs143034856 0.00003
NM_005188.4(CBL):c.1703C>T (p.Thr568Ile) rs762016318 0.00003
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) rs151229168 0.00003
NM_005379.4(MYO1A):c.2708A>G (p.Asn903Ser) rs146373415 0.00003
NM_005422.4(TECTA):c.1203+3G>A rs774205473 0.00003
NM_005422.4(TECTA):c.1522A>C (p.Thr508Pro) rs772553666 0.00003
NM_005422.4(TECTA):c.2537G>A (p.Gly846Glu) rs876658014 0.00003
NM_005422.4(TECTA):c.4097C>T (p.Thr1366Met) rs201860044 0.00003
NM_005422.4(TECTA):c.4441A>G (p.Ser1481Gly) rs201946991 0.00003
NM_005422.4(TECTA):c.4802A>G (p.Asn1601Ser) rs758272613 0.00003
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln) rs555093382 0.00003
NM_005422.4(TECTA):c.878A>G (p.Tyr293Cys) rs185351501 0.00003
NM_005548.3(KARS1):c.1350G>C (p.Glu450Asp) rs200574045 0.00003
NM_005633.4(SOS1):c.-15C>T rs727503439 0.00003
NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser) rs397517168 0.00003
NM_006005.3(WFS1):c.1184T>A (p.Val395Asp) rs769744865 0.00003
NM_006005.3(WFS1):c.2531C>T (p.Ala844Val) rs200192011 0.00003
NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe) rs771391168 0.00003
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) rs142428158 0.00003
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu) rs727504730 0.00003
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile) rs144888979 0.00003
NM_006073.4(TRDN):c.46G>C (p.Val16Leu) rs974343553 0.00003
NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser) rs371348453 0.00003
NM_006231.4(POLE):c.6392G>A (p.Arg2131His) rs141954509 0.00003
NM_006393.3(NEBL):c.113G>T (p.Ser38Ile) rs375265257 0.00003
NM_006393.3(NEBL):c.903+1G>T rs775057540 0.00003
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly) rs747377284 0.00003
NM_007078.3(LDB3):c.1453G>T (p.Ala485Ser) rs397517214 0.00003
NM_007078.3(LDB3):c.897-10G>A rs77304928 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
NM_012208.4(HARS2):c.-4C>G rs876657830 0.00003
NM_012208.4(HARS2):c.145C>T (p.His49Tyr) rs370203603 0.00003
NM_012208.4(HARS2):c.643C>T (p.Arg215Trp) rs758323052 0.00003
NM_013296.5(GPSM2):c.-2C>T rs727504726 0.00003
NM_013296.5(GPSM2):c.1876G>C (p.Val626Leu) rs727503087 0.00003
NM_013296.5(GPSM2):c.529G>A (p.Ala177Thr) rs397517232 0.00003
NM_014000.3(VCL):c.1844C>T (p.Ala615Val) rs148669762 0.00003
NM_014000.3(VCL):c.2875A>C (p.Asn959His) rs758969419 0.00003
NM_014270.5(SLC7A9):c.1060G>A (p.Ala354Thr) rs939028046 0.00003
NM_015404.4(WHRN):c.2029A>G (p.Ile677Val) rs758287560 0.00003
NM_015404.4(WHRN):c.35C>T (p.Ser12Leu) rs760261757 0.00003
NM_015404.4(WHRN):c.44C>T (p.Thr15Ile) rs727502957 0.00003
NM_015512.5(DNAH1):c.3431G>A (p.Ser1144Asn) rs571987789 0.00003
NM_016203.4(PRKAG2):c.554A>T (p.Glu185Val) rs397517274 0.00003
NM_016239.4(MYO15A):c.1261C>T (p.Pro421Ser) rs762439635 0.00003
NM_016239.4(MYO15A):c.1585C>T (p.His529Tyr) rs200836518 0.00003
NM_016239.4(MYO15A):c.3241T>G (p.Trp1081Gly) rs771821256 0.00003
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu) rs368430972 0.00003
NM_016239.4(MYO15A):c.5288G>A (p.Arg1763Gln) rs780165350 0.00003
NM_016239.4(MYO15A):c.5380C>T (p.Arg1794Cys) rs369109640 0.00003
NM_016239.4(MYO15A):c.8225-12G>A rs541139484 0.00003
NM_016239.4(MYO15A):c.9328C>T (p.Arg3110Trp) rs773489275 0.00003
NM_017433.5(MYO3A):c.2115-10A>G rs200205050 0.00003
NM_017433.5(MYO3A):c.2719G>A (p.Asp907Asn) rs727503325 0.00003
NM_017433.5(MYO3A):c.568T>C (p.Phe190Leu) rs727504671 0.00003
NM_017433.5(MYO3A):c.823C>T (p.Arg275Cys) rs755478240 0.00003
NM_017668.3(NDE1):c.948-3357C>T rs376779423 0.00003
NM_017950.4(CCDC40):c.461G>A (p.Arg154Lys) rs751661394 0.00003
NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys) rs200191497 0.00003
NM_020297.4(ABCC9):c.1012-7G>A rs727502874 0.00003
NM_020297.4(ABCC9):c.1063G>T (p.Ala355Ser) rs145455570 0.00003
NM_020297.4(ABCC9):c.2932C>A (p.Pro978Thr) rs376874273 0.00003
NM_020297.4(ABCC9):c.4512+693G>A rs876657737 0.00003
NM_020433.5(JPH2):c.1640C>T (p.Ala547Val) rs772283505 0.00003
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met) rs374911318 0.00003
NM_022114.4(PRDM16):c.413C>T (p.Ser138Leu) rs552668116 0.00003
NM_022124.6(CDH23):c.10007C>T (p.Pro3336Leu) rs727504532 0.00003
NM_022124.6(CDH23):c.130G>A (p.Glu44Lys) rs1390133151 0.00003
NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg) rs397517311 0.00003
NM_022124.6(CDH23):c.2032G>A (p.Val678Ile) rs547668692 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_022124.6(CDH23):c.259G>T (p.Val87Leu) rs759917997 0.00003
NM_022124.6(CDH23):c.325G>A (p.Asp109Asn) rs199793172 0.00003
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly) rs757508152 0.00003
NM_022124.6(CDH23):c.3550G>A (p.Asp1184Asn) rs397517325 0.00003
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597 0.00003
NM_022124.6(CDH23):c.3847G>A (p.Val1283Met) rs758413650 0.00003
NM_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_022124.6(CDH23):c.6559G>A (p.Ala2187Thr) rs727504841 0.00003
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) rs141986620 0.00003
NM_022124.6(CDH23):c.8257G>A (p.Ala2753Thr) rs397517356 0.00003
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln) rs111033467 0.00003
NM_022124.6(CDH23):c.9070G>A (p.Val3024Met) rs370087572 0.00003
NM_022124.6(CDH23):c.9078G>C (p.Arg3026=) rs727504725 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_024009.3(GJB3):c.538C>T (p.Arg180Ter) rs74315319 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr) rs766413086 0.00003
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr) rs373324195 0.00003
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln) rs147241955 0.00003
NM_024915.4(GRHL2):c.1081G>A (p.Val361Met) rs770962467 0.00003
NM_024915.4(GRHL2):c.1546C>T (p.Arg516Trp) rs780540983 0.00003
NM_030662.4(MAP2K2):c.1046+4G>A rs1011864039 0.00003
NM_030662.4(MAP2K2):c.391G>A (p.Val131Met) rs397517413 0.00003
NM_031475.3(ESPN):c.1016G>A (p.Arg339Gln) rs148390614 0.00003
NM_032119.4(ADGRV1):c.12202G>A (p.Gly4068Arg) rs760011091 0.00003
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu) rs200957385 0.00003
NM_032119.4(ADGRV1):c.13919G>A (p.Gly4640Glu) rs727504706 0.00003
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu) rs200130204 0.00003
NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn) rs772117132 0.00003
NM_032119.4(ADGRV1):c.16447T>C (p.Phe5483Leu) rs376863164 0.00003
NM_032119.4(ADGRV1):c.18775G>T (p.Asp6259Tyr) rs397517428 0.00003
NM_032119.4(ADGRV1):c.5311C>G (p.Gln1771Glu) rs727503074 0.00003
NM_032119.4(ADGRV1):c.5623G>A (p.Gly1875Arg) rs727503075 0.00003
NM_032119.4(ADGRV1):c.6676G>A (p.Glu2226Lys) rs397517433 0.00003
NM_032119.4(ADGRV1):c.7631A>G (p.Glu2544Gly) rs111033523 0.00003
NM_032119.4(ADGRV1):c.7907A>G (p.Asp2636Gly) rs770468449 0.00003
NM_032119.4(ADGRV1):c.9034A>G (p.Thr3012Ala) rs764873763 0.00003
NM_032590.5(KDM2B):c.46C>T (p.Arg16Ter) rs376781406 0.00003
NM_033056.4(PCDH15):c.5278C>A (p.Pro1760Thr) rs397517464 0.00003
NM_033118.4(MYLK2):c.-13G>A rs397517470 0.00003
NM_033118.4(MYLK2):c.1694T>C (p.Met565Thr) rs727503306 0.00003
NM_057176.3(BSND):c.287C>T (p.Pro96Leu) rs765579274 0.00003
NM_080680.3(COL11A2):c.2495G>A (p.Gly832Glu) rs750006299 0.00003
NM_080680.3(COL11A2):c.388C>T (p.Arg130Trp) rs144363465 0.00003
NM_080680.3(COL11A2):c.4190T>G (p.Leu1397Arg) rs571981688 0.00003
NM_080680.3(COL11A2):c.854C>T (p.Thr285Met) rs747064765 0.00003
NM_133261.3(GIPC3):c.875T>C (p.Phe292Ser) rs727503065 0.00003
NM_133379.5(TTN):c.12109C>T (p.Gln4037Ter) rs761974222 0.00003
NM_133379.5(TTN):c.14911A>G (p.Ile4971Val) rs727504687 0.00003
NM_133379.5(TTN):c.15283T>C (p.Tyr5095His) rs557767596 0.00003
NM_138691.3(TMC1):c.1018A>G (p.Met340Val) rs771281791 0.00003
NM_138691.3(TMC1):c.2192A>G (p.Lys731Arg) rs775993082 0.00003
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00003
NM_144573.4(NEXN):c.379C>T (p.Arg127Cys) rs771113424 0.00003
NM_144672.4(OTOA):c.661G>A (p.Asp221Asn) rs142693996 0.00003
NM_144991.3(TSPEAR):c.1937C>T (p.Thr646Met) rs782251764 0.00003
NM_145309.6(LRRC51):c.115C>T (p.Arg39Ter) rs780299621 0.00003
NM_147196.3(TMIE):c.34G>T (p.Val12Leu) rs397517867 0.00003
NM_153676.4(USH1C):c.121G>A (p.Val41Met) rs780439529 0.00003
NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu) rs747675437 0.00003
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247 0.00003
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878 0.00003
NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala) rs200779709 0.00003
NM_153676.4(USH1C):c.908G>A (p.Arg303Gln) rs397517884 0.00003
NM_153700.2(STRC):c.2527A>G (p.Lys843Glu) rs1321776840 0.00003
NM_170682.4(P2RX2):c.1234G>C (p.Asp412His) rs374200273 0.00003
NM_173477.5(USH1G):c.163G>A (p.Gly55Arg) rs397517926 0.00003
NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp) rs397517930 0.00003
NM_181426.2(CCDC39):c.2238A>T (p.Gln746His) rs876657752 0.00003
NM_182548.4(LHFPL5):c.475C>T (p.Arg159Cys) rs755791421 0.00003
NM_194248.3(OTOF):c.1930G>A (p.Val644Ile) rs727505153 0.00003
NM_194248.3(OTOF):c.2147G>A (p.Ser716Asn) rs147657016 0.00003
NM_194248.3(OTOF):c.2168G>A (p.Arg723His) rs754009907 0.00003
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln) rs373681505 0.00003
NM_194248.3(OTOF):c.3124A>G (p.Met1042Val) rs727505142 0.00003
NM_194248.3(OTOF):c.3694C>T (p.Arg1232Trp) rs749458515 0.00003
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys) rs745399096 0.00003
NM_194248.3(OTOF):c.4343G>A (p.Arg1448His) rs373858563 0.00003
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244 0.00003
NM_194323.3(OTOF):c.3674A>G (p.Lys1225Arg) rs750669994 0.00003
NM_201596.3(CACNB2):c.1A>G (p.Met1Val) rs746311834 0.00003
NM_206933.4(USH2A):c.10387+5C>G rs746536041 0.00003
NM_206933.4(USH2A):c.11414T>C (p.Val3805Ala) rs760024584 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg) rs370430107 0.00003
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 0.00003
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His) rs778272177 0.00003
NM_206933.4(USH2A):c.938C>A (p.Pro313His) rs397518047 0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NM_206933.4(USH2A):c.9989A>T (p.Asn3330Ile) rs397518050 0.00003
NM_000038.6(APC):c.1589T>C (p.Val530Ala) rs202199891 0.00002
NM_000038.6(APC):c.1685C>T (p.Thr562Met) rs587783034 0.00002
NM_000038.6(APC):c.1984C>A (p.Leu662Ile) rs756859993 0.00002
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu) rs748745776 0.00002
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199 0.00002
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829 0.00002
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala) rs755344973 0.00002
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn) rs201181725 0.00002
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737 0.00002
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp) rs587781690 0.00002
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile) rs199472796 0.00002
NM_000219.6(KCNE1):c.220T>C (p.Ser74Pro) rs199473357 0.00002
NM_000238.4(KCNH2):c.3233A>G (p.Tyr1078Cys) rs199473029 0.00002
NM_000251.3(MSH2):c.2377C>G (p.Gln793Glu) rs730881769 0.00002
NM_000251.3(MSH2):c.304G>A (p.Val102Ile) rs193922373 0.00002
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met) rs727503208 0.00002
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly) rs372371774 0.00002
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys) rs397515939 0.00002
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000256.3(MYBPC3):c.2439G>C (p.Lys813Asn) rs727505264 0.00002
NM_000256.3(MYBPC3):c.2654C>T (p.Thr885Met) rs397515981 0.00002
NM_000256.3(MYBPC3):c.296A>C (p.Lys99Thr) rs1555123639 0.00002
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) rs730880573 0.00002
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063 0.00002
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396 0.00002
NM_000256.3(MYBPC3):c.917G>A (p.Arg306Gln) rs373204728 0.00002
NM_000257.4(MYH7):c.1384A>T (p.Ile462Phe) rs397516105 0.00002
NM_000257.4(MYH7):c.1913C>T (p.Ala638Val) rs369935820 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 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.350A>T (p.Tyr117Phe) rs201012865 0.00002
NM_000257.4(MYH7):c.3637G>A (p.Val1213Met) rs397516182 0.00002
NM_000257.4(MYH7):c.3803G>A (p.Arg1268His) rs397516194 0.00002
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097 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.5020G>A (p.Val1674Met) rs397516235 0.00002
NM_000257.4(MYH7):c.5096G>A (p.Arg1699Gln) rs146778113 0.00002
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770 0.00002
NM_000257.4(MYH7):c.5660A>G (p.Glu1887Gly) rs375404554 0.00002
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962 0.00002
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277 0.00002
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 0.00002
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys) rs565312070 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_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614 0.00002
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292 0.00002
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln) rs1052032 0.00002
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) rs782465732 0.00002
NM_000260.4(MYO7A):c.3836C>T (p.Thr1279Met) rs766245260 0.00002
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His) rs397516311 0.00002
NM_000260.4(MYO7A):c.5116G>A (p.Glu1706Lys) rs751860887 0.00002
NM_000260.4(MYO7A):c.5857-3C>A rs727505114 0.00002
NM_000335.5(SCN5A):c.2365G>A (p.Val789Ile) rs199473159 0.00002
NM_000335.5(SCN5A):c.280A>G (p.Ile94Val) rs202114798 0.00002
NM_000335.5(SCN5A):c.4745G>A (p.Arg1582His) rs199473621 0.00002
NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His) rs727504822 0.00002
NM_000363.5(TNNI3):c.151-6C>G rs377258542 0.00002
NM_000363.5(TNNI3):c.168T>G (p.Ile56Met) rs727503509 0.00002
NM_000414.4(HSD17B4):c.109G>A (p.Val37Ile) rs747214551 0.00002
NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg) rs778265488 0.00002
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser) rs727504425 0.00002
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter) rs201728041 0.00002
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val) rs372875358 0.00002
NM_000492.4(CFTR):c.964G>A (p.Val322Met) rs1800085 0.00002
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080 0.00002
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 0.00002
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu) rs754306821 0.00002
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209 0.00002
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123 0.00002
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560 0.00002
NM_000601.6(HGF):c.1942G>A (p.Gly648Arg) rs150109563 0.00002
NM_001005242.3(PKP2):c.1379-1972G>A rs779392697 0.00002
NM_001005242.3(PKP2):c.1610G>A (p.Gly537Glu) rs866789949 0.00002
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser) rs143323961 0.00002
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met) rs146118033 0.00002
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373 0.00002
NM_001010892.3(RSPH4A):c.1121G>A (p.Arg374His) rs141217974 0.00002
NM_001018005.2(TPM1):c.841A>G (p.Met281Val) rs397516394 0.00002
NM_001032283.3(TMPO):c.70A>C (p.Asn24His) rs727505279 0.00002
NM_001035.3(RYR2):c.10258G>A (p.Val3420Ile) rs397516497 0.00002
NM_001035.3(RYR2):c.10557G>T (p.Leu3519Phe) rs558910032 0.00002
NM_001035.3(RYR2):c.1166G>A (p.Arg389His) rs200685968 0.00002
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys) rs397516527 0.00002
NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser) rs727503400 0.00002
NM_001035.3(RYR2):c.5825T>G (p.Phe1942Cys) rs397516546 0.00002
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met) rs876657994 0.00002
NM_001038603.3(MARVELD2):c.*1C>T rs570049997 0.00002
NM_001039141.3(TRIOBP):c.5891G>A (p.Arg1964His) rs534138620 0.00002
NM_001039141.3(TRIOBP):c.5929C>T (p.Arg1977Trp) rs367584370 0.00002
NM_001039141.3(TRIOBP):c.64C>T (p.Arg22Cys) rs374228600 0.00002
NM_001039876.3(SYNE4):c.616C>T (p.Leu206=) rs771897813 0.00002
NM_001042702.5(PJVK):c.762A>C (p.Glu254Asp) rs770054482 0.00002
NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp) rs779997419 0.00002
NM_001079866.2(BCS1L):c.193A>C (p.Ser65Arg) rs749184815 0.00002
NM_001103.4(ACTN2):c.1057C>T (p.Arg353Trp) rs1150181 0.00002
NM_001103.4(ACTN2):c.1108-3C>T rs372488913 0.00002
NM_001103.4(ACTN2):c.1822C>T (p.Arg608Trp) rs397516571 0.00002
NM_001103.4(ACTN2):c.2108A>T (p.Gln703Leu) rs370862426 0.00002
NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys) rs397516574 0.00002
NM_001103.4(ACTN2):c.536+6C>G rs771398006 0.00002
NM_001103.4(ACTN2):c.745G>A (p.Val249Ile) rs771260546 0.00002
NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys) rs779109533 0.00002
NM_001105206.3(LAMA4):c.2225A>G (p.Asn742Ser) rs374279330 0.00002
NM_001110219.3(GJB6):c.619G>A (p.Val207Met) rs146231737 0.00002
NM_001122659.3(EDNRB):c.203C>T (p.Pro68Leu) rs201737510 0.00002
NM_001128840.3(CACNA1D):c.2042C>T (p.Thr681Met) rs369605872 0.00002
NM_001128840.3(CACNA1D):c.3709A>G (p.Met1237Val) rs767083533 0.00002
NM_001128840.3(CACNA1D):c.5015G>A (p.Arg1672Gln) rs148898845 0.00002
NM_001128840.3(CACNA1D):c.6289G>A (p.Asp2097Asn) rs41276455 0.00002
NM_001134363.3(RBM20):c.1329C>G (p.Phe443Leu) rs876657972 0.00002
NM_001134363.3(RBM20):c.1459G>A (p.Val487Met) rs397516595 0.00002
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val) rs397516602 0.00002
NM_001134363.3(RBM20):c.2338G>A (p.Gly780Arg) rs750988872 0.00002
NM_001145809.2(MYH14):c.2359G>A (p.Glu787Lys) rs397516628 0.00002
NM_001145809.2(MYH14):c.4259C>T (p.Ala1420Val) rs727503225 0.00002
NM_001145809.2(MYH14):c.4694G>A (p.Arg1565Gln) rs374911327 0.00002
NM_001145809.2(MYH14):c.5271G>A (p.Ser1757=) rs397516630 0.00002
NM_001195263.2(PDZD7):c.1538C>T (p.Pro513Leu) rs572462059 0.00002
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp) rs574768683 0.00002
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala) rs188124777 0.00002
NM_001199107.2(TBC1D24):c.1475C>T (p.Ser492Phe) rs1249590916 0.00002
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser) rs772054145 0.00002
NM_001199107.2(TBC1D24):c.836C>T (p.Thr279Met) rs779234824 0.00002
NM_001232.4(CASQ2):c.479G>A (p.Arg160His) rs372283956 0.00002
NM_001256317.3(TMPRSS3):c.1120G>A (p.Val374Met) rs775508015 0.00002
NM_001256317.3(TMPRSS3):c.763G>T (p.Ala255Ser) rs778263709 0.00002
NM_001267550.2(TTN):c.101159A>G (p.Lys33720Arg) rs727503535 0.00002
NM_001267550.2(TTN):c.103859G>A (p.Arg34620His) rs367927066 0.00002
NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys) rs727504918 0.00002
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu) rs727504491 0.00002
NM_001267550.2(TTN):c.105625A>C (p.Lys35209Gln) rs56365812 0.00002
NM_001267550.2(TTN):c.106736C>T (p.Ser35579Leu) rs727504462 0.00002
NM_001267550.2(TTN):c.107134A>C (p.Asn35712His) rs727504949 0.00002
NM_001267550.2(TTN):c.107552T>C (p.Met35851Thr) rs1310904463 0.00002
NM_001267550.2(TTN):c.13499A>G (p.Lys4500Arg) rs727503655 0.00002
NM_001267550.2(TTN):c.16157T>C (p.Met5386Thr) rs375417155 0.00002
NM_001267550.2(TTN):c.18292A>G (p.Thr6098Ala) rs727505140 0.00002
NM_001267550.2(TTN):c.20468T>G (p.Val6823Gly) rs529417675 0.00002
NM_001267550.2(TTN):c.21605C>G (p.Ser7202Cys) rs747376234 0.00002
NM_001267550.2(TTN):c.24928T>A (p.Tyr8310Asn) rs397517511 0.00002
NM_001267550.2(TTN):c.25162C>T (p.Pro8388Ser) rs727503647 0.00002
NM_001267550.2(TTN):c.25510A>C (p.Met8504Leu) rs761929830 0.00002
NM_001267550.2(TTN):c.25723G>A (p.Gly8575Arg) rs397517517 0.00002
NM_001267550.2(TTN):c.26200G>A (p.Ala8734Thr) rs727503646 0.00002
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly) rs536974988 0.00002
NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln) rs397517520 0.00002
NM_001267550.2(TTN):c.28606C>A (p.Pro9536Thr) rs201121983 0.00002
NM_001267550.2(TTN):c.30707A>C (p.Asp10236Ala) rs539986891 0.00002
NM_001267550.2(TTN):c.34058T>C (p.Phe11353Ser) rs752527275 0.00002
NM_001267550.2(TTN):c.39457G>A (p.Val13153Met) rs377259883 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.43702G>A (p.Val14568Ile) rs372384272 0.00002
NM_001267550.2(TTN):c.44104G>C (p.Asp14702His) rs727503627 0.00002
NM_001267550.2(TTN):c.45143T>C (p.Ile15048Thr) rs727505261 0.00002
NM_001267550.2(TTN):c.47887A>G (p.Met15963Val) rs397517590 0.00002
NM_001267550.2(TTN):c.53180C>G (p.Ser17727Cys) rs369262757 0.00002
NM_001267550.2(TTN):c.54493C>T (p.Arg18165Cys) rs377575788 0.00002
NM_001267550.2(TTN):c.5503C>A (p.Gln1835Lys) rs537070177 0.00002
NM_001267550.2(TTN):c.56557C>T (p.His18853Tyr) rs397517623 0.00002
NM_001267550.2(TTN):c.56900A>G (p.Asn18967Ser) rs727503594 0.00002
NM_001267550.2(TTN):c.57292G>A (p.Val19098Ile) rs727503592 0.00002
NM_001267550.2(TTN):c.57416T>C (p.Ile19139Thr) rs727503591 0.00002
NM_001267550.2(TTN):c.59092G>T (p.Asp19698Tyr) rs397517642 0.00002
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00002
NM_001267550.2(TTN):c.60571A>C (p.Ile20191Leu) rs745806239 0.00002
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala) rs397517693 0.00002
NM_001267550.2(TTN):c.65158C>A (p.Pro21720Thr) rs776953525 0.00002
NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser) rs727503576 0.00002
NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg) rs397517669 0.00002
NM_001267550.2(TTN):c.69227T>C (p.Ile23076Thr) rs765930349 0.00002
NM_001267550.2(TTN):c.6949C>T (p.Arg2317Cys) rs750101152 0.00002
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile) rs752648041 0.00002
NM_001267550.2(TTN):c.73340G>A (p.Arg24447Lys) rs377190830 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His) rs397517703 0.00002
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln) rs536183519 0.00002
NM_001267550.2(TTN):c.80774G>A (p.Arg26925Lys) rs748215561 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_001267550.2(TTN):c.87805G>A (p.Val29269Ile) rs727503551 0.00002
NM_001267550.2(TTN):c.88406C>T (p.Ala29469Val) rs397517740 0.00002
NM_001267550.2(TTN):c.92666G>A (p.Gly30889Asp) rs727505280 0.00002
NM_001267550.2(TTN):c.94828G>A (p.Ala31610Thr) rs141357723 0.00002
NM_001267550.2(TTN):c.95312G>A (p.Arg31771Lys) rs397517760 0.00002
NM_001267550.2(TTN):c.95521A>G (p.Asn31841Asp) rs794729540 0.00002
NM_001267550.2(TTN):c.97672C>T (p.Arg32558Trp) rs727505090 0.00002
NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu) rs144900708 0.00002
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245 0.00002
NM_001276345.2(TNNT2):c.720-6G>A rs113471285 0.00002
NM_001283009.2(RTEL1):c.2142-7C>G rs879582201 0.00002
NM_001289808.2(CRYAB):c.487C>T (p.Arg163Cys) rs186242388 0.00002
NM_001292063.2(OTOG):c.2782T>C (p.Cys928Arg) rs1011979116 0.00002
NM_001292063.2(OTOG):c.3438G>A (p.Met1146Ile) rs767774116 0.00002
NM_001292063.2(OTOG):c.3526-12G>C rs749205983 0.00002
NM_001318895.3(FHL2):c.275G>A (p.Cys92Tyr) rs765835400 0.00002
NM_001354604.2(MITF):c.217C>T (p.Arg73Cys) rs1478130504 0.00002
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile) rs749397968 0.00002
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys) rs386833403 0.00002
NM_001376256.1(CRYM):c.907G>A (p.Ala303Thr) rs727502945 0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr) rs373835067 0.00002
NM_001378609.3(OTOGL):c.2165C>A (p.Ala722Asp) rs769499824 0.00002
NM_001378609.3(OTOGL):c.3263A>G (p.Asp1088Gly) rs12422945 0.00002
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val) rs774172292 0.00002
NM_001378609.3(OTOGL):c.518C>T (p.Ser173Leu) rs377611164 0.00002
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.607A>G (p.Thr203Ala) rs200975767 0.00002
NM_001384474.1(LOXHD1):c.2728C>G (p.Pro910Ala) rs1015707963 0.00002
NM_001384474.1(LOXHD1):c.3811A>G (p.Met1271Val) rs1377630828 0.00002
NM_001384474.1(LOXHD1):c.6322G>A (p.Glu2108Lys) rs774836161 0.00002
NM_001384474.1(LOXHD1):c.6716T>C (p.Val2239Ala) rs776112233 0.00002
NM_001384474.1(LOXHD1):c.91G>C (p.Asp31His) rs876657862 0.00002
NM_001614.5(ACTG1):c.*11C>T rs782341016 0.00002
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_001943.5(DSG2):c.2212G>A (p.Ala738Thr) rs397516705 0.00002
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala) rs782653485 0.00002
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451 0.00002
NM_002471.4(MYH6):c.1535T>C (p.Ile512Thr) rs397516756 0.00002
NM_002471.4(MYH6):c.485A>G (p.Tyr162Cys) rs397516772 0.00002
NM_002473.6(MYH9):c.1380T>C (p.Asp460=) rs876657891 0.00002
NM_002473.6(MYH9):c.3082A>G (p.Met1028Val) rs1205000981 0.00002
NM_002473.6(MYH9):c.491-7G>A rs200059134 0.00002
NM_002473.6(MYH9):c.833A>G (p.Tyr278Cys) rs727504863 0.00002
NM_002691.4(POLD1):c.1517G>A (p.Arg506His) rs140379348 0.00002
NM_002700.3(POU4F3):c.103T>C (p.Cys35Arg) rs147927112 0.00002
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser) rs200286254 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002880.3(RAF1):c.-361G>T rs727504376 0.00002
NM_002880.4(RAF1):c.313C>G (p.His105Asp) rs397516818 0.00002
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601 0.00002
NM_003019.5(SFTPD):c.883G>A (p.Ala295Thr) rs369866808 0.00002
NM_003280.3(TNNC1):c.203-10C>G rs727505237 0.00002
NM_003280.3(TNNC1):c.56-8G>A rs727503495 0.00002
NM_003476.5(CSRP3):c.437G>A (p.Arg146His) rs377066670 0.00002
NM_003673.4(TCAP):c.16C>A (p.Leu6Met) rs201664428 0.00002
NM_003673.4(TCAP):c.301G>A (p.Ala101Thr) rs727503455 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004006.3(DMD):c.298G>A (p.Val100Ile) rs779099343 0.00002
NM_004085.4(TIMM8A):c.-8G>T rs782142925 0.00002
NM_004086.3(COCH):c.271C>T (p.Arg91Ter) rs540895576 0.00002
NM_004086.3(COCH):c.582G>T (p.Met194Ile) rs757768757 0.00002
NM_004230.4(S1PR2):c.781G>A (p.Val261Ile) rs199824841 0.00002
NM_004281.4(BAG3):c.386C>T (p.Ala129Val) rs876657747 0.00002
NM_004329.3(BMPR1A):c.587A>G (p.Asp196Gly) rs141608069 0.00002
NM_004415.4(DSP):c.2794-6G>A rs397516925 0.00002
NM_004415.4(DSP):c.3835G>A (p.Ala1279Thr) rs763915365 0.00002
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala) rs760433367 0.00002
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val) rs375919492 0.00002
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn) rs730880084 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00002
NM_004415.4(DSP):c.797T>C (p.Met266Thr) rs370890663 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly) rs397516972 0.00002
NM_004517.4(ILK):c.778C>T (p.Pro260Ser) rs750354350 0.00002
NM_004568.6(SERPINB6):c.58G>C (p.Gly20Arg) rs775408746 0.00002
NM_004568.6(SERPINB6):c.845T>C (p.Met282Thr) rs374321672 0.00002
NM_004700.4(KCNQ4):c.832A>G (p.Thr278Ala) rs763326539 0.00002
NM_004985.5(KRAS):c.491G>A (p.Arg164Gln) rs372793780 0.00002
NM_004999.4(MYO6):c.217C>G (p.Leu73Val) rs759372006 0.00002
NM_004999.4(MYO6):c.2926G>T (p.Asp976Tyr) rs201168408 0.00002
NM_004999.4(MYO6):c.3505C>T (p.Arg1169Cys) rs144006872 0.00002
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val) rs750951965 0.00002
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln) rs751198294 0.00002
NM_005228.5(EGFR):c.2464G>A (p.Ala822Thr) rs397517125 0.00002
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) rs369106578 0.00002
NM_005411.5(SFTPA1):c.649G>A (p.Ala217Thr) rs876658000 0.00002
NM_005422.4(TECTA):c.2726G>A (p.Arg909His) rs750620981 0.00002
NM_005422.4(TECTA):c.4471G>A (p.Gly1491Ser) rs727503463 0.00002
NM_005422.4(TECTA):c.487-7C>G rs368627411 0.00002
NM_005422.4(TECTA):c.6089T>C (p.Ile2030Thr) rs876658017 0.00002
NM_005422.4(TECTA):c.907G>A (p.Glu303Lys) rs774583320 0.00002
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) rs200856070 0.00002
NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys) rs724160007 0.00002
NM_006005.3(WFS1):c.1552A>G (p.Met518Val) rs747678800 0.00002
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys) rs367547063 0.00002
NM_006231.4(POLE):c.4090C>T (p.Arg1364Cys) rs770024304 0.00002
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666 0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261 0.00002
NM_006231.4(POLE):c.6493C>T (p.Arg2165Cys) rs369549727 0.00002
NM_006393.3(NEBL):c.1963-13C>T rs727504904 0.00002
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala) rs780384504 0.00002
NM_006393.3(NEBL):c.2329C>T (p.Gln777Ter) rs752922937 0.00002
NM_006393.3(NEBL):c.2485G>A (p.Val829Met) rs727504979 0.00002
NM_006393.3(NEBL):c.599G>C (p.Gly200Ala) rs727503336 0.00002
NM_007078.3(LDB3):c.1696A>G (p.Met566Val) rs775232208 0.00002
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln) rs727504944 0.00002
NM_007078.3(LDB3):c.356C>T (p.Ala119Val) rs397517223 0.00002
NM_007078.3(LDB3):c.656G>A (p.Arg219Gln) rs530979771 0.00002
NM_007078.3(LDB3):c.733G>A (p.Val245Ile) rs573061464 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_014000.3(VCL):c.2746-14C>T rs367598954 0.00002
NM_015340.4(LARS2):c.2278A>G (p.Ser760Gly) rs781382275 0.00002
NM_015340.4(LARS2):c.2404+4C>T rs199693918 0.00002
NM_015340.4(LARS2):c.2404+5G>A rs752860955 0.00002
NM_015404.4(WHRN):c.1291C>T (p.Arg431Trp) rs397517256 0.00002
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) rs556585167 0.00002
NM_015404.4(WHRN):c.2293G>C (p.Gly765Arg) rs142685292 0.00002
NM_015404.4(WHRN):c.2645G>A (p.Arg882His) rs760928525 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_016239.4(MYO15A):c.1414T>A (p.Ser472Thr) rs886042317 0.00002
NM_016239.4(MYO15A):c.2015C>G (p.Ser672Cys) rs876657897 0.00002
NM_016239.4(MYO15A):c.4015C>T (p.Arg1339Trp) rs374336846 0.00002
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) rs878854411 0.00002
NM_016239.4(MYO15A):c.4354G>A (p.Ala1452Thr) rs752313077 0.00002
NM_016239.4(MYO15A):c.4483-6G>A rs771397877 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_016239.4(MYO15A):c.4987G>A (p.Asp1663Asn) rs876657899 0.00002
NM_016239.4(MYO15A):c.5870C>A (p.Ser1957Tyr) rs876657901 0.00002
NM_016239.4(MYO15A):c.6957-13C>A rs773985638 0.00002
NM_016239.4(MYO15A):c.8450G>A (p.Arg2817His) rs761861080 0.00002
NM_016239.4(MYO15A):c.931G>T (p.Asp311Tyr) rs876657906 0.00002
NM_016239.4(MYO15A):c.9593T>C (p.Ile3198Thr) rs369742063 0.00002
NM_016239.4(MYO15A):c.9812G>A (p.Arg3271His) rs373295633 0.00002
NM_016366.3(CABP2):c.659G>A (p.Arg220Gln) rs143180247 0.00002
NM_016599.5(MYOZ2):c.311C>T (p.Ala104Val) rs772659939 0.00002
NM_016599.5(MYOZ2):c.689G>A (p.Arg230Gln) rs727503332 0.00002
NM_017433.5(MYO3A):c.168C>T (p.His56=) rs201668920 0.00002
NM_017433.5(MYO3A):c.2849G>A (p.Arg950His) rs143371522 0.00002
NM_017433.5(MYO3A):c.3747T>A (p.Asn1249Lys) rs201263014 0.00002
NM_017433.5(MYO3A):c.4438+4A>G rs756581092 0.00002
NM_017668.3(NDE1):c.130C>T (p.Arg44Ter) rs747020521 0.00002
NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu) rs201793562 0.00002
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter) rs774508076 0.00002
NM_020297.4(ABCC9):c.575G>A (p.Arg192Lys) rs727504612 0.00002
NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu) rs778410296 0.00002
NM_022114.4(PRDM16):c.*14C>T rs747277382 0.00002
NM_022124.6(CDH23):c.10018C>T (p.Leu3340Phe) rs376537401 0.00002
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_022124.6(CDH23):c.4046G>A (p.Arg1349His) rs768452198 0.00002
NM_022124.6(CDH23):c.5168G>A (p.Arg1723His) rs189361642 0.00002
NM_022124.6(CDH23):c.5632G>A (p.Ala1878Thr) rs757570269 0.00002
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met) rs775436759 0.00002
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu) rs746961144 0.00002
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe) rs763721044 0.00002
NM_024334.3(TMEM43):c.1000+5G>T rs376589026 0.00002
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748 0.00002
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala) rs397517386 0.00002
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp) rs397517391 0.00002
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter) rs397517395 0.00002
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) rs727504578 0.00002
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591 0.00002
NM_024422.6(DSC2):c.977A>C (p.Gln326Pro) rs397517409 0.00002
NM_024915.4(GRHL2):c.685C>T (p.Arg229Trp) rs766515922 0.00002
NM_030662.4(MAP2K2):c.326C>T (p.Pro109Leu) rs544242665 0.00002
NM_030662.4(MAP2K2):c.985C>T (p.Pro329Ser) rs727504353 0.00002
NM_031475.3(ESPN):c.439G>A (p.Ala147Thr) rs727504727 0.00002
NM_032119.4(ADGRV1):c.12869G>A (p.Arg4290His) rs762515714 0.00002
NM_032119.4(ADGRV1):c.1505C>T (p.Ala502Val) rs367826825 0.00002
NM_032119.4(ADGRV1):c.15667G>A (p.Gly5223Arg) rs727505301 0.00002
NM_032119.4(ADGRV1):c.1675T>C (p.Tyr559His) rs779671690 0.00002
NM_032119.4(ADGRV1):c.2261T>C (p.Val754Ala) rs374609813 0.00002
NM_032119.4(ADGRV1):c.3580G>C (p.Asp1194His) rs779520200 0.00002
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr) rs376900429 0.00002
NM_032119.4(ADGRV1):c.5969T>C (p.Val1990Ala) rs376559614 0.00002
NM_032119.4(ADGRV1):c.787G>A (p.Val263Met) rs727505056 0.00002
NM_032119.4(ADGRV1):c.9291T>G (p.Ser3097Arg) rs727505041 0.00002
NM_032119.4(ADGRV1):c.968T>C (p.Ile323Thr) rs757910491 0.00002
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val) rs760992741 0.00002
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687 0.00002
NM_080680.3(COL11A2):c.338G>T (p.Gly113Val) rs199946338 0.00002
NM_080680.3(COL11A2):c.3959G>A (p.Arg1320Gln) rs372143434 0.00002
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu) rs201399429 0.00002
NM_133379.5(TTN):c.11757C>G (p.Phe3919Leu) rs369074426 0.00002
NM_133379.5(TTN):c.11821C>T (p.Arg3941Cys) rs397517804 0.00002
NM_133379.5(TTN):c.12409G>C (p.Asp4137His) rs727504522 0.00002
NM_133379.5(TTN):c.13444A>G (p.Ile4482Val) rs149169686 0.00002
NM_138691.3(TMC1):c.1404+4A>G rs727503484 0.00002
NM_139319.3(SLC17A8):c.354+4G>C rs727504846 0.00002
NM_144573.4(NEXN):c.-10T>C rs727505219 0.00002
NM_144672.4(OTOA):c.1907C>G (p.Ala636Gly) rs780071647 0.00002
NM_144672.4(OTOA):c.775T>C (p.Trp259Arg) rs1476325639 0.00002
NM_144991.3(TSPEAR):c.608G>A (p.Arg203Gln) rs781964053 0.00002
NM_147196.3(TMIE):c.211+5G>A rs375470385 0.00002
NM_147196.3(TMIE):c.218C>T (p.Thr73Met) rs770957465 0.00002
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg) rs768207716 0.00002
NM_153700.2(STRC):c.2481-3C>A rs1378890067 0.00002
NM_153700.2(STRC):c.3661A>C (p.Thr1221Pro) rs780948412 0.00002
NM_170682.4(P2RX2):c.906-13G>A rs757748091 0.00002
NM_170707.4(LMNA):c.986G>A (p.Arg329His) rs397517913 0.00002
NM_173477.5(USH1G):c.-1C>T rs727504576 0.00002
NM_174936.4(PCSK9):c.1070G>A (p.Arg357His) rs370507566 0.00002
NM_174936.4(PCSK9):c.706G>A (p.Gly236Ser) rs149489325 0.00002
NM_181458.4(PAX3):c.572T>C (p.Ile191Thr) rs199560470 0.00002
NM_181458.4(PAX3):c.958+6G>A rs558822810 0.00002
NM_181672.3(OGT):c.1879C>T (p.Arg627Cys) rs766646613 0.00002
NM_194248.3(OTOF):c.146G>A (p.Arg49Gln) rs111033444 0.00002
NM_194248.3(OTOF):c.1703G>A (p.Arg568Gln) rs397517934 0.00002
NM_194248.3(OTOF):c.2453G>A (p.Arg818Gln) rs748844952 0.00002
NM_194248.3(OTOF):c.3226T>C (p.Tyr1076His) rs150782952 0.00002
NM_194248.3(OTOF):c.322A>G (p.Ile108Val) rs727505189 0.00002
NM_194248.3(OTOF):c.3401G>A (p.Arg1134Gln) rs397517943 0.00002
NM_194248.3(OTOF):c.4342C>T (p.Arg1448Cys) rs727503355 0.00002
NM_194248.3(OTOF):c.4440G>T (p.Met1480Ile) rs727503354 0.00002
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp) rs727504985 0.00002
NM_194248.3(OTOF):c.632G>A (p.Arg211Gln) rs111033535 0.00002
NM_198173.3(GRHL3):c.140T>C (p.Met47Thr) rs754006408 0.00002
NM_201384.3(PLEC):c.6790C>T (p.Arg2264Cys) rs371749261 0.00002
NM_203447.4(DOCK8):c.4109G>A (p.Arg1370His) rs753480025 0.00002
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile) rs533179037 0.00002
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn) rs551424240 0.00002
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027 0.00002
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909 0.00002
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr) rs759365458 0.00002
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr) rs876658116 0.00002
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016 0.00001
NM_000031.6(ALAD):c.718C>T (p.Arg240Trp) rs121912982 0.00001
NM_000038.6(APC):c.1498T>C (p.Tyr500His) rs762019672 0.00001
NM_000038.6(APC):c.1743+6T>C rs766973462 0.00001
NM_000038.6(APC):c.1829A>G (p.Asp610Gly) rs756090401 0.00001
NM_000038.6(APC):c.3161A>C (p.His1054Pro) rs777538550 0.00001
NM_000038.6(APC):c.4100A>G (p.Gln1367Arg) rs1399790840 0.00001
NM_000038.6(APC):c.4101G>C (p.Gln1367His) rs761886683 0.00001
NM_000038.6(APC):c.5866A>G (p.Ile1956Val) rs749597014 0.00001
NM_000038.6(APC):c.6658A>G (p.Asn2220Asp) rs374464049 0.00001
NM_000038.6(APC):c.7498C>G (p.Gln2500Glu) rs372535376 0.00001
NM_000038.6(APC):c.933+5C>A rs573528468 0.00001
NM_000059.4(BRCA2):c.6263C>T (p.Thr2088Ile) rs767567428 0.00001
NM_000059.4(BRCA2):c.8432A>G (p.Asp2811Gly) rs80359090 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555 0.00001
NM_000104.4(CYP1B1):c.16A>G (p.Ser6Gly) rs369115487 0.00001
NM_000104.4(CYP1B1):c.503G>A (p.Gly168Asp) rs200724605 0.00001
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) rs727503454 0.00001
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744 0.00001
NM_000117.3(EMD):c.494C>T (p.Thr165Met) rs397515751 0.00001
NM_000138.5(FBN1):c.165-7G>A rs397515761 0.00001
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val) rs141551765 0.00001
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser) rs397515763 0.00001
NM_000138.5(FBN1):c.2188G>A (p.Asp730Asn) rs199625633 0.00001
NM_000138.5(FBN1):c.3209-3C>A rs397515787 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.370A>G (p.Met124Val) rs764224168 0.00001
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser) rs370923981 0.00001
NM_000138.5(FBN1):c.5509C>T (p.Pro1837Ser) rs755430984 0.00001
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu) rs397515844 0.00001
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp) rs397515860 0.00001
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr) rs765839151 0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 0.00001
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala) rs746631156 0.00001
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368 0.00001
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val) rs182024561 0.00001
NM_000179.3(MSH6):c.3649A>G (p.Arg1217Gly) rs587780677 0.00001
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285 0.00001
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser) rs780187989 0.00001
NM_000179.3(MSH6):c.4039G>C (p.Ala1347Pro) rs730881809 0.00001
NM_000179.3(MSH6):c.503C>G (p.Ala168Gly) rs774162322 0.00001
NM_000195.5(HPS1):c.472C>T (p.Arg158Cys) rs727505003 0.00001
NM_000218.3(KCNQ1):c.1202G>A (p.Arg401Gln) rs542628042 0.00001
NM_000218.3(KCNQ1):c.1295C>T (p.Thr432Ile) rs751644427 0.00001
NM_000218.3(KCNQ1):c.1498A>G (p.Ile500Val) rs189794855 0.00001
NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys) rs775059928 0.00001
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) rs74315446 0.00001
NM_000229.2(LCAT):c.605T>C (p.Ile202Thr) rs376973514 0.00001
NM_000238.4(KCNH2):c.1426G>A (p.Val476Ile) rs199472908 0.00001
NM_000251.3(MSH2):c.2053A>G (p.Ile685Val) rs1060499876 0.00001
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu) rs63750849 0.00001
NM_000251.3(MSH2):c.645+3A>G rs587779168 0.00001
NM_000251.3(MSH2):c.764G>A (p.Ser255Asn) rs763184168 0.00001
NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His) rs397515883 0.00001
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) rs397515884 0.00001
NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser) rs727505266 0.00001
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His) rs374255707 0.00001
NM_000256.3(MYBPC3):c.1397T>A (p.Met466Lys) rs397515899 0.00001
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln) rs776734314 0.00001
NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met) rs730880543 0.00001
NM_000256.3(MYBPC3):c.1540A>G (p.Ile514Val) rs727503200 0.00001
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His) rs397515923 0.00001
NM_000256.3(MYBPC3):c.1778C>T (p.Ser593Phe) rs397515924 0.00001
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr) rs397515941 0.00001
NM_000256.3(MYBPC3):c.2170C>T (p.Arg724Trp) rs200399246 0.00001
NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met) rs369790992 0.00001
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) rs368104687 0.00001
NM_000256.3(MYBPC3):c.2347G>T (p.Val783Leu) rs1060499878 0.00001
NM_000256.3(MYBPC3):c.2398G>A (p.Gly800Arg) rs727504574 0.00001
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln) rs397515964 0.00001
NM_000256.3(MYBPC3):c.2512G>C (p.Glu838Gln) rs397515969 0.00001
NM_000256.3(MYBPC3):c.2557G>A (p.Gly853Ser) rs397515976 0.00001
NM_000256.3(MYBPC3):c.2641G>A (p.Val881Ile) rs727504360 0.00001
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp) rs727504418 0.00001
NM_000256.3(MYBPC3):c.2714G>A (p.Ser905Asn) rs397515983 0.00001
NM_000256.3(MYBPC3):c.2723A>G (p.Tyr908Cys) rs397515984 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.2938C>T (p.Arg980Cys) rs397515994 0.00001
NM_000256.3(MYBPC3):c.2993A>G (p.Gln998Arg) rs727503177 0.00001
NM_000256.3(MYBPC3):c.2995-5C>G rs376083315 0.00001
NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln) rs397516003 0.00001
NM_000256.3(MYBPC3):c.326C>T (p.Ala109Val) rs397516011 0.00001
NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys) rs727503173 0.00001
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) rs397516018 0.00001
NM_000256.3(MYBPC3):c.3490+6G>A rs397516021 0.00001
NM_000256.3(MYBPC3):c.355G>A (p.Glu119Lys) rs397516025 0.00001
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171 0.00001
NM_000256.3(MYBPC3):c.3685A>G (p.Met1229Val) rs727503169 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000256.3(MYBPC3):c.3815-10T>G rs397516043 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.481C>A (p.Pro161Thr) rs397516053 0.00001
NM_000256.3(MYBPC3):c.517A>G (p.Thr173Ala) rs727505168 0.00001
NM_000256.3(MYBPC3):c.745T>C (p.Cys249Arg) rs397516071 0.00001
NM_000256.3(MYBPC3):c.852-6C>T rs397516078 0.00001
NM_000256.3(MYBPC3):c.926+1G>A rs767239679 0.00001
NM_000257.4(MYH7):c.1139-14C>T rs397516091 0.00001
NM_000257.4(MYH7):c.1315A>T (p.Met439Leu) rs370310929 0.00001
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala) rs397516119 0.00001
NM_000257.4(MYH7):c.1684A>G (p.Asn562Asp) rs397516118 0.00001
NM_000257.4(MYH7):c.184G>A (p.Glu62Lys) rs727504416 0.00001
NM_000257.4(MYH7):c.1888C>T (p.Pro630Ser) rs397516124 0.00001
NM_000257.4(MYH7):c.1892T>C (p.Ile631Thr) rs397516125 0.00001
NM_000257.4(MYH7):c.208A>T (p.Thr70Ser) rs397516129 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile) rs397516158 0.00001
NM_000257.4(MYH7):c.2846A>T (p.Glu949Val) rs397516175 0.00001
NM_000257.4(MYH7):c.2899G>A (p.Glu967Lys) rs727503250 0.00001
NM_000257.4(MYH7):c.2973G>T (p.Lys991Asn) rs727504388 0.00001
NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile) rs201195256 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.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.3245+3A>T rs727505355 0.00001
NM_000257.4(MYH7):c.343T>C (p.Tyr115His) rs397516183 0.00001
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val) rs397516184 0.00001
NM_000257.4(MYH7):c.3464G>A (p.Gly1155Glu) rs397516186 0.00001
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187 0.00001
NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg) rs397516188 0.00001
NM_000257.4(MYH7):c.3734T>A (p.Leu1245Gln) rs397516192 0.00001
NM_000257.4(MYH7):c.37G>A (p.Ala13Thr) rs759231966 0.00001
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln) rs397516195 0.00001
NM_000257.4(MYH7):c.3856G>A (p.Glu1286Lys) rs397516196 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.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys) rs45451303 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.4388C>T (p.Ser1463Leu) rs890401818 0.00001
NM_000257.4(MYH7):c.4481A>T (p.His1494Leu) rs727505329 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu) rs397516221 0.00001
NM_000257.4(MYH7):c.4644+3G>A rs397516226 0.00001
NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys) rs750987717 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.4832C>T (p.Ala1611Val) rs757090529 0.00001
NM_000257.4(MYH7):c.4864C>T (p.Leu1622Phe) rs397516231 0.00001
NM_000257.4(MYH7):c.4954-14C>G rs727505070 0.00001
NM_000257.4(MYH7):c.50G>A (p.Arg17His) rs727503280 0.00001
NM_000257.4(MYH7):c.5191G>A (p.Asp1731Asn) rs876657885 0.00001
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met) rs727505294 0.00001
NM_000257.4(MYH7):c.530C>T (p.Thr177Ile) rs752930302 0.00001
NM_000257.4(MYH7):c.531-5C>T rs397516243 0.00001
NM_000257.4(MYH7):c.5341C>T (p.Arg1781Cys) rs397516245 0.00001
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr) rs143362532 0.00001
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln) rs45520836 0.00001
NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys) rs121913652 0.00001
NM_000257.4(MYH7):c.5656-8T>G rs397516251 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.619A>C (p.Lys207Gln) rs727504273 0.00001
NM_000258.3(MYL3):c.517A>G (p.Met173Val) rs199474708 0.00001
NM_000258.3(MYL3):c.82G>A (p.Glu28Lys) rs754220375 0.00001
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) rs397516282 0.00001
NM_000260.4(MYO7A):c.1138G>A (p.Glu380Lys) rs876657913 0.00001
NM_000260.4(MYO7A):c.1195G>A (p.Val399Ile) rs1162724549 0.00001
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln) rs111033219 0.00001
NM_000260.4(MYO7A):c.1617C>G (p.Ile539Met) rs782450807 0.00001
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg) rs968552859 0.00001
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg) rs397516289 0.00001
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) rs782503314 0.00001
NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu) rs782485961 0.00001
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys) rs995330889 0.00001
NM_000260.4(MYO7A):c.2500C>T (p.Arg834Cys) rs781869469 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.3375+3G>A rs397516299 0.00001
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) rs797044517 0.00001
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886 0.00001
NM_000260.4(MYO7A):c.359G>A (p.Arg120His) rs369493667 0.00001
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) rs769771981 0.00001
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000260.4(MYO7A):c.4652C>T (p.Ala1551Val) rs756854177 0.00001
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr) rs111033485 0.00001
NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg) rs771889662 0.00001
NM_000260.4(MYO7A):c.5243C>T (p.Thr1748Met) rs752373714 0.00001
NM_000260.4(MYO7A):c.5528T>G (p.Leu1843Arg) rs397516319 0.00001
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg) rs373886432 0.00001
NM_000260.4(MYO7A):c.5752G>A (p.Val1918Met) rs958153438 0.00001
NM_000260.4(MYO7A):c.6173A>G (p.Lys2058Arg) rs111033336 0.00001
NM_000260.4(MYO7A):c.6205A>T (p.Ile2069Phe) rs1046633522 0.00001
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met) rs769205075 0.00001
NM_000260.4(MYO7A):c.6570G>A (p.Met2190Ile) rs376900309 0.00001
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter) rs747095250 0.00001
NM_000283.4(PDE6B):c.1920+2T>C rs763996159 0.00001
NM_000307.5(POU3F4):c.59C>A (p.Ala20Glu) rs755424605 0.00001
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673 0.00001
NM_000335.5(SCN5A):c.152C>T (p.Ala51Val) rs727505131 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 0.00001
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.2542A>T (p.Ile848Phe) rs199473166 0.00001
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile) rs199473177 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.2977G>A (p.Ala993Thr) rs770088052 0.00001
NM_000335.5(SCN5A):c.3061C>T (p.Pro1021Ser) rs794728871 0.00001
NM_000335.5(SCN5A):c.3247G>C (p.Gly1083Arg) rs199473190 0.00001
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) rs199473595 0.00001
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val) rs727503407 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000335.5(SCN5A):c.5065G>A (p.Asp1689Asn) rs1060499900 0.00001
NM_000335.5(SCN5A):c.5165C>A (p.Thr1722Asn) rs199473300 0.00001
NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His) rs369058100 0.00001
NM_000335.5(SCN5A):c.5606C>A (p.Ala1869Asp) rs727504759 0.00001
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) rs370694515 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000335.5(SCN5A):c.820G>A (p.Gly274Ser) rs794728852 0.00001
NM_000335.5(SCN5A):c.944T>C (p.Leu315Pro) rs199473564 0.00001
NM_000337.6(SGCD):c.193-12G>T rs727503421 0.00001
NM_000337.6(SGCD):c.506C>T (p.Ala169Val) rs876658001 0.00001
NM_000363.5(TNNI3):c.167T>C (p.Ile56Thr) rs545441942 0.00001
NM_000363.5(TNNI3):c.233C>T (p.Thr78Ile) rs786205288 0.00001
NM_000363.5(TNNI3):c.307C>T (p.Arg103Cys) rs397516344 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.428C>A (p.Thr143Asn) rs397516348 0.00001
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285 0.00001
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys) rs727504243 0.00001
NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu) rs730881084 0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000371.4(TTR):c.337-3T>C rs774027595 0.00001
NM_000371.4(TTR):c.68C>T (p.Thr23Met) rs377052919 0.00001
NM_000384.3(APOB):c.13154G>A (p.Arg4385His) rs533755016 0.00001
NM_000400.4(ERCC2):c.1238G>T (p.Gly413Val) rs1218421285 0.00001
NM_000432.4(MYL2):c.101C>T (p.Thr34Ile) rs876657894 0.00001
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu) rs199474809 0.00001
NM_000432.4(MYL2):c.278C>A (p.Ala93Glu) rs774193307 0.00001
NM_000432.4(MYL2):c.31G>A (p.Gly11Arg) rs397516402 0.00001
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu) rs727504341 0.00001
NM_000441.2(SLC26A4):c.1054G>A (p.Ala352Thr) rs397516412 0.00001
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser) rs1298350213 0.00001
NM_000441.2(SLC26A4):c.1708-14A>G rs1453109539 0.00001
NM_000441.2(SLC26A4):c.1766A>C (p.Gln589Pro) rs397516422 0.00001
NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys) rs375645779 0.00001
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) rs727504303 0.00001
NM_000441.2(SLC26A4):c.283G>A (p.Gly95Arg) rs111033398 0.00001
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val) rs111033365 0.00001
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln) rs766126240 0.00001
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser) rs374253638 0.00001
NM_000503.6(EYA1):c.-24G>T rs759264949 0.00001
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199 0.00001
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser) rs747476629 0.00001
NM_000503.6(EYA1):c.491T>C (p.Leu164Pro) rs1007684729 0.00001
NM_000503.6(EYA1):c.830A>G (p.Tyr277Cys) rs374772533 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile) rs767546791 0.00001
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe) rs748698776 0.00001
NM_000535.7(PMS2):c.46A>G (p.Lys16Glu) rs777845808 0.00001
NM_000540.3(RYR1):c.3418C>T (p.Arg1140Cys) rs193922776 0.00001
NM_000540.3(RYR1):c.6549-8G>A rs756593088 0.00001
NM_000540.3(RYR1):c.6564C>G (p.Asn2188Lys) rs373570763 0.00001
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829 0.00001
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) rs759717253 0.00001
NM_000546.6(TP53):c.993+309C>T rs758194998 0.00001
NM_000601.6(HGF):c.1343A>G (p.His448Arg) rs1789738571 0.00001
NM_000601.6(HGF):c.146C>A (p.Thr49Asn) rs368094683 0.00001
NM_000601.6(HGF):c.1540A>G (p.Arg514Gly) rs876657831 0.00001
NM_000601.6(HGF):c.2011-3dup rs1363809103 0.00001
NM_001005242.3(PKP2):c.1130T>C (p.Ile377Thr) rs397516985 0.00001
NM_001005242.3(PKP2):c.1757T>C (p.Ile586Thr) rs397517011 0.00001
NM_001005242.3(PKP2):c.1794C>A (p.Asn598Lys) rs727503370 0.00001
NM_001005242.3(PKP2):c.222C>A (p.Asn74Lys) rs753180642 0.00001
NM_001005242.3(PKP2):c.2246C>A (p.Ala749Asp) rs727504950 0.00001
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr) rs397517023 0.00001
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys) rs781739949 0.00001
NM_001005242.3(PKP2):c.462C>G (p.Ser154Arg) rs397517026 0.00001
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys) rs397517027 0.00001
NM_001005242.3(PKP2):c.516C>A (p.Ser172Arg) rs397517028 0.00001
NM_001010892.3(RSPH4A):c.65G>A (p.Arg22Gln) rs762438592 0.00001
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) rs104894501 0.00001
NM_001018005.2(TPM1):c.240+4518A>T rs876658033 0.00001
NM_001018005.2(TPM1):c.493-6C>T rs397516374 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 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.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NM_001018005.2(TPM1):c.91G>A (p.Ala31Thr) rs397516396 0.00001
NM_001018116.2(CAVIN4):c.632G>A (p.Arg211Gln) rs200590850 0.00001
NM_001032283.3(TMPO):c.565+1137G>A rs375903462 0.00001
NM_001032283.3(TMPO):c.565+1606C>T rs727505047 0.00001
NM_001035.3(RYR2):c.10142+4T>C rs397516496 0.00001
NM_001035.3(RYR2):c.11040-3C>T rs876657984 0.00001
NM_001035.3(RYR2):c.11174T>C (p.Leu3725Pro) rs727505346 0.00001
NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg) rs397516506 0.00001
NM_001035.3(RYR2):c.13328+3A>G rs776115513 0.00001
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg) rs747584325 0.00001
NM_001035.3(RYR2):c.13504A>C (p.Met4502Leu) rs876657985 0.00001
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu) rs371157868 0.00001
NM_001035.3(RYR2):c.2786G>A (p.Arg929His) rs876657988 0.00001
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) rs533330664 0.00001
NM_001035.3(RYR2):c.3238G>A (p.Gly1080Ser) rs727504969 0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396 0.00001
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln) rs727504850 0.00001
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met) rs761181641 0.00001
NM_001035.3(RYR2):c.463+6C>T rs397516533 0.00001
NM_001035.3(RYR2):c.4723C>T (p.His1575Tyr) rs397516535 0.00001
NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr) rs397516542 0.00001
NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr) rs767728159 0.00001
NM_001035.3(RYR2):c.5755C>T (p.Arg1919Trp) rs771469528 0.00001
NM_001035.3(RYR2):c.7117G>T (p.Asp2373Tyr) rs397516548 0.00001
NM_001035.3(RYR2):c.848+1G>A rs772984053 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_001038603.3(MARVELD2):c.1147-2A>G rs763062791 0.00001
NM_001038603.3(MARVELD2):c.1204G>A (p.Asp402Asn) rs727503160 0.00001
NM_001039141.3(TRIOBP):c.-3A>G rs779160270 0.00001
NM_001039141.3(TRIOBP):c.115-12A>T rs781452420 0.00001
NM_001039141.3(TRIOBP):c.4009C>G (p.Gln1337Glu) rs372970338 0.00001
NM_001039141.3(TRIOBP):c.4062+5G>A rs876658037 0.00001
NM_001039141.3(TRIOBP):c.5185-12C>G rs774556951 0.00001
NM_001039141.3(TRIOBP):c.5528C>T (p.Thr1843Met) rs528806680 0.00001
NM_001039141.3(TRIOBP):c.5575C>G (p.His1859Asp) rs780379130 0.00001
NM_001039141.3(TRIOBP):c.5693C>T (p.Ser1898Leu) rs727503523 0.00001
NM_001039141.3(TRIOBP):c.5869C>T (p.Gln1957Ter) rs1277466514 0.00001
NM_001039141.3(TRIOBP):c.6324+240G>A rs876658038 0.00001
NM_001039213.4(CEACAM16):c.1054C>T (p.Arg352Cys) rs747961516 0.00001
NM_001039876.3(SYNE4):c.972+5G>A rs369269989 0.00001
NM_001042492.3(NF1):c.4835+3A>G rs1417732851 0.00001
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn) rs771597781 0.00001
NM_001042492.3(NF1):c.6334G>A (p.Ala2112Thr) rs749672954 0.00001
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg) rs371151718 0.00001
NM_001042492.3(NF1):c.862G>A (p.Val288Met) rs755670651 0.00001
NM_001042545.2(LTBP4):c.3485C>T (p.Ala1162Val) rs1555741927 0.00001
NM_001042545.2(LTBP4):c.4348G>C (p.Glu1450Gln) rs187448224 0.00001
NM_001042702.5(PJVK):c.53G>T (p.Arg18Ile) rs397516555 0.00001
NM_001042702.5(PJVK):c.548G>A (p.Arg183Gln) rs760036509 0.00001
NM_001042702.5(PJVK):c.766A>C (p.Asn256His) rs727502958 0.00001
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln) rs755653922 0.00001
NM_001080476.3(GRXCR1):c.152G>A (p.Gly51Glu) rs727505186 0.00001
NM_001080476.3(GRXCR1):c.296T>C (p.Ile99Thr) rs727503088 0.00001
NM_001080476.3(GRXCR1):c.358T>C (p.Phe120Leu) rs529420082 0.00001
NM_001103.4(ACTN2):c.1384G>T (p.Ala462Ser) rs376923220 0.00001
NM_001103.4(ACTN2):c.2302-3C>A rs727505174 0.00001
NM_001103.4(ACTN2):c.2306A>C (p.Lys769Thr) rs397516573 0.00001
NM_001103.4(ACTN2):c.706A>G (p.Asn236Asp) rs1193355360 0.00001
NM_001105206.3(LAMA4):c.1078-14C>T rs397516714 0.00001
NM_001105206.3(LAMA4):c.1867G>A (p.Ala623Thr) rs782574915 0.00001
NM_001105206.3(LAMA4):c.2026G>A (p.Ala676Thr) rs397516721 0.00001
NM_001105206.3(LAMA4):c.2215G>A (p.Glu739Lys) rs727504935 0.00001
NM_001105206.3(LAMA4):c.2782C>A (p.Pro928Thr) rs727505130 0.00001
NM_001105206.3(LAMA4):c.398C>G (p.Pro133Arg) rs876657842 0.00001
NM_001105206.3(LAMA4):c.4052A>G (p.Lys1351Arg) rs876657843 0.00001
NM_001105206.3(LAMA4):c.4476-3C>A rs397516731 0.00001
NM_001105206.3(LAMA4):c.4476-4C>A rs727505042 0.00001
NM_001105206.3(LAMA4):c.4982-3del rs727505356 0.00001
NM_001122659.3(EDNRB):c.*1632C>A rs876657804 0.00001
NM_001122659.3(EDNRB):c.532C>A (p.Pro178Thr) rs201311945 0.00001
NM_001122659.3(EDNRB):c.748A>G (p.Ser250Gly) rs199521140 0.00001
NM_001127453.2(GSDME):c.1331G>T (p.Arg444Met) rs780683974 0.00001
NM_001128159.3(VPS53):c.1750C>T (p.Arg584Ter) rs781484164 0.00001
NM_001128228.3(TPRN):c.1742A>G (p.Asn581Ser) rs773521640 0.00001
NM_001128840.3(CACNA1D):c.1555G>A (p.Ala519Thr) rs138150805 0.00001
NM_001128840.3(CACNA1D):c.2261A>G (p.Asn754Ser) rs1316050748 0.00001
NM_001128840.3(CACNA1D):c.3748G>A (p.Val1250Ile) rs748437057 0.00001
NM_001128840.3(CACNA1D):c.3862G>A (p.Glu1288Lys) rs781171340 0.00001
NM_001128840.3(CACNA1D):c.6373C>T (p.Arg2125Trp) rs373663753 0.00001
NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met) rs1294912316 0.00001
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) rs876657970 0.00001
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg) rs727505308 0.00001
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg) rs774916799 0.00001
NM_001134363.3(RBM20):c.1538G>A (p.Arg513Gln) rs876657974 0.00001
NM_001134363.3(RBM20):c.1658C>T (p.Ser553Leu) rs993569055 0.00001
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002 0.00001
NM_001134363.3(RBM20):c.1973C>G (p.Ser658Cys) rs397516598 0.00001
NM_001134363.3(RBM20):c.2108G>A (p.Arg703Lys) rs397516600 0.00001
NM_001134363.3(RBM20):c.3022C>T (p.Arg1008Trp) rs397516610 0.00001
NM_001134363.3(RBM20):c.3500G>T (p.Gly1167Val) rs371754487 0.00001
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val) rs397516618 0.00001
NM_001134363.3(RBM20):c.536G>A (p.Gly179Asp) rs727504943 0.00001
NM_001145308.5(LRTOMT):c.53A>C (p.Asp18Ala) rs876657865 0.00001
NM_001145809.2(MYH14):c.2701C>A (p.Pro901Thr) rs1324093100 0.00001
NM_001145809.2(MYH14):c.2839C>T (p.Arg947Cys) rs757658628 0.00001
NM_001145809.2(MYH14):c.3322C>T (p.Arg1108Cys) rs769702697 0.00001
NM_001145809.2(MYH14):c.3914G>A (p.Arg1305His) rs876657873 0.00001
NM_001145809.2(MYH14):c.4264C>T (p.Arg1422Cys) rs727503226 0.00001
NM_001145809.2(MYH14):c.4486C>G (p.Gln1496Glu) rs141995460 0.00001
NM_001145809.2(MYH14):c.4885G>T (p.Ala1629Ser) rs754931173 0.00001
NM_001145809.2(MYH14):c.5345+6T>C rs876657874 0.00001
NM_001145809.2(MYH14):c.5369G>A (p.Arg1790His) rs747480201 0.00001
NM_001145809.2(MYH14):c.5548C>T (p.Arg1850Trp) rs201474958 0.00001
NM_001145809.2(MYH14):c.5644G>A (p.Ala1882Thr) rs200566974 0.00001
NM_001145809.2(MYH14):c.6058G>A (p.Gly2020Arg) rs1006372999 0.00001
NM_001145809.2(MYH14):c.6088T>A (p.Ser2030Thr) rs727503231 0.00001
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys) rs72547524 0.00001
NM_001195263.2(PDZD7):c.685G>A (p.Gly229Ser) rs765376342 0.00001
NM_001199107.2(TBC1D24):c.*2G>A rs780054979 0.00001
NM_001199107.2(TBC1D24):c.1457G>A (p.Arg486His) rs796053405 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_001199799.2(ILDR1):c.1291C>T (p.Arg431Cys) rs376510686 0.00001
NM_001199799.2(ILDR1):c.1388G>A (p.Arg463His) rs199571441 0.00001
NM_001199799.2(ILDR1):c.1433C>T (p.Ser478Phe) rs727503096 0.00001
NM_001199799.2(ILDR1):c.73C>G (p.Leu25Val) rs727505226 0.00001
NM_001232.4(CASQ2):c.311A>C (p.Lys104Thr) rs781062859 0.00001
NM_001232.4(CASQ2):c.738-3C>A rs876657750 0.00001
NM_001243133.2(NLRP3):c.2089C>T (p.Arg697Ter) rs1191108022 0.00001
NM_001256317.3(TMPRSS3):c.1000G>A (p.Asp334Asn) rs776873836 0.00001
NM_001256317.3(TMPRSS3):c.1054G>A (p.Ala352Thr) rs188750127 0.00001
NM_001256317.3(TMPRSS3):c.1197C>G (p.Asp399Glu) rs397517371 0.00001
NM_001256317.3(TMPRSS3):c.1344+3G>A rs751001285 0.00001
NM_001256317.3(TMPRSS3):c.298G>C (p.Asp100His) rs397517374 0.00001
NM_001256317.3(TMPRSS3):c.446+4A>T rs376253981 0.00001
NM_001256317.3(TMPRSS3):c.677C>T (p.Ser226Leu) rs763150678 0.00001
NM_001256317.3(TMPRSS3):c.731G>T (p.Gly244Val) rs397517377 0.00001
NM_001256317.3(TMPRSS3):c.783-13C>A rs140443203 0.00001
NM_001267550.2(TTN):c.100562G>A (p.Gly33521Asp) rs370516977 0.00001
NM_001267550.2(TTN):c.101557A>G (p.Lys33853Glu) rs727505163 0.00001
NM_001267550.2(TTN):c.101908G>A (p.Asp33970Asn) rs749832500 0.00001
NM_001267550.2(TTN):c.102011T>A (p.Leu34004Gln) rs727504897 0.00001
NM_001267550.2(TTN):c.102394T>C (p.Ser34132Pro) rs876658098 0.00001
NM_001267550.2(TTN):c.102638A>G (p.Asn34213Ser) rs375332499 0.00001
NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg) rs727505009 0.00001
NM_001267550.2(TTN):c.104192A>G (p.Tyr34731Cys) rs397517789 0.00001
NM_001267550.2(TTN):c.105064G>A (p.Glu35022Lys) rs727504977 0.00001
NM_001267550.2(TTN):c.105391A>G (p.Ile35131Val) rs779464128 0.00001
NM_001267550.2(TTN):c.105601G>A (p.Val35201Met) rs397517797 0.00001
NM_001267550.2(TTN):c.105718C>T (p.Arg35240Trp) rs752729073 0.00001
NM_001267550.2(TTN):c.107897G>A (p.Gly35966Asp) rs727505008 0.00001
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met) rs397517825 0.00001
NM_001267550.2(TTN):c.12175G>T (p.Gly4059Cys) rs377114166 0.00001
NM_001267550.2(TTN):c.12361G>C (p.Asp4121His) rs370209978 0.00001
NM_001267550.2(TTN):c.1429A>T (p.Thr477Ser) rs727503705 0.00001
NM_001267550.2(TTN):c.15063A>C (p.Glu5021Asp) rs727503651 0.00001
NM_001267550.2(TTN):c.16574G>C (p.Ser5525Thr) rs727503649 0.00001
NM_001267550.2(TTN):c.16577A>G (p.Asn5526Ser) rs767376352 0.00001
NM_001267550.2(TTN):c.16839A>C (p.Glu5613Asp) rs397517483 0.00001
NM_001267550.2(TTN):c.16895T>C (p.Ile5632Thr) rs727504971 0.00001
NM_001267550.2(TTN):c.17500G>A (p.Val5834Ile) rs727505221 0.00001
NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr) rs775293848 0.00001
NM_001267550.2(TTN):c.17C>T (p.Pro6Leu) rs201490999 0.00001
NM_001267550.2(TTN):c.18832G>A (p.Gly6278Ser) rs397517488 0.00001
NM_001267550.2(TTN):c.19315G>A (p.Val6439Met) rs727505289 0.00001
NM_001267550.2(TTN):c.202C>T (p.Pro68Ser) rs876658046 0.00001
NM_001267550.2(TTN):c.20742T>A (p.Phe6914Leu) rs397517495 0.00001
NM_001267550.2(TTN):c.21157A>C (p.Thr7053Pro) rs727504741 0.00001
NM_001267550.2(TTN):c.21227C>T (p.Ala7076Val) rs374625641 0.00001
NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile) rs876658043 0.00001
NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg) rs876658047 0.00001
NM_001267550.2(TTN):c.22241-14A>G rs371352901 0.00001
NM_001267550.2(TTN):c.22798G>T (p.Ala7600Ser) rs757523256 0.00001
NM_001267550.2(TTN):c.22817-15T>G rs727504821 0.00001
NM_001267550.2(TTN):c.230G>A (p.Arg77Gln) rs727503709 0.00001
NM_001267550.2(TTN):c.23392G>A (p.Val7798Met) rs144032104 0.00001
NM_001267550.2(TTN):c.23939-13C>A rs876658045 0.00001
NM_001267550.2(TTN):c.24520G>A (p.Val8174Met) rs727504961 0.00001
NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys) rs377762626 0.00001
NM_001267550.2(TTN):c.26200+5G>A rs727503645 0.00001
NM_001267550.2(TTN):c.26639T>G (p.Phe8880Cys) rs397517518 0.00001
NM_001267550.2(TTN):c.26762-9A>G rs200821070 0.00001
NM_001267550.2(TTN):c.27217G>C (p.Val9073Leu) rs756400799 0.00001
NM_001267550.2(TTN):c.27328+5G>A rs397517521 0.00001
NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn) rs397517523 0.00001
NM_001267550.2(TTN):c.27886+5T>C rs876658050 0.00001
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln) rs397517527 0.00001
NM_001267550.2(TTN):c.28321G>A (p.Gly9441Arg) rs397517529 0.00001
NM_001267550.2(TTN):c.28709A>G (p.Asn9570Ser) rs727503641 0.00001
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp) rs397517530 0.00001
NM_001267550.2(TTN):c.30055T>G (p.Ser10019Ala) rs754368714 0.00001
NM_001267550.2(TTN):c.3031G>A (p.Gly1011Arg) rs397517546 0.00001
NM_001267550.2(TTN):c.30434-15G>A rs373562293 0.00001
NM_001267550.2(TTN):c.3070G>A (p.Val1024Ile) rs368770038 0.00001
NM_001267550.2(TTN):c.30725C>T (p.Ala10242Val) rs397517534 0.00001
NM_001267550.2(TTN):c.30893C>T (p.Ala10298Val) rs727504902 0.00001
NM_001267550.2(TTN):c.31426+1G>C rs6749719 0.00001
NM_001267550.2(TTN):c.31832C>G (p.Ala10611Gly) rs727503637 0.00001
NM_001267550.2(TTN):c.33248-8C>G rs766957102 0.00001
NM_001267550.2(TTN):c.33445C>T (p.Pro11149Ser) rs377760800 0.00001
NM_001267550.2(TTN):c.33911-7T>C rs397517545 0.00001
NM_001267550.2(TTN):c.3445G>A (p.Asp1149Asn) rs368967197 0.00001
NM_001267550.2(TTN):c.34843C>T (p.Pro11615Ser) rs727504775 0.00001
NM_001267550.2(TTN):c.35314G>A (p.Glu11772Lys) rs727505263 0.00001
NM_001267550.2(TTN):c.39163A>G (p.Lys13055Glu) rs397517555 0.00001
NM_001267550.2(TTN):c.39472G>A (p.Val13158Met) rs876658056 0.00001
NM_001267550.2(TTN):c.4042A>G (p.Ser1348Gly) rs397517591 0.00001
NM_001267550.2(TTN):c.40877-7A>G rs727505201 0.00001
NM_001267550.2(TTN):c.41342G>A (p.Arg13781His) rs370878642 0.00001
NM_001267550.2(TTN):c.4147C>G (p.Pro1383Ala) rs377658313 0.00001
NM_001267550.2(TTN):c.42056G>A (p.Arg14019His) rs374683153 0.00001
NM_001267550.2(TTN):c.42421A>G (p.Arg14141Gly) rs397517567 0.00001
NM_001267550.2(TTN):c.42649G>A (p.Glu14217Lys) rs727503629 0.00001
NM_001267550.2(TTN):c.42829A>T (p.Ile14277Phe) rs397517568 0.00001
NM_001267550.2(TTN):c.43100T>C (p.Ile14367Thr) rs397517572 0.00001
NM_001267550.2(TTN):c.44285G>A (p.Arg14762Gln) rs727505019 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys) rs397517582 0.00001
NM_001267550.2(TTN):c.46160T>C (p.Ile15387Thr) rs397517585 0.00001
NM_001267550.2(TTN):c.46369G>A (p.Glu15457Lys) rs753664074 0.00001
NM_001267550.2(TTN):c.47892T>G (p.Asp15964Glu) rs727503623 0.00001
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys) rs185789611 0.00001
NM_001267550.2(TTN):c.49126C>T (p.Arg16376Cys) rs772152172 0.00001
NM_001267550.2(TTN):c.49189G>A (p.Val16397Met) rs397517595 0.00001
NM_001267550.2(TTN):c.49258G>A (p.Glu16420Lys) rs764682084 0.00001
NM_001267550.2(TTN):c.49379C>G (p.Ser16460Cys) rs397517596 0.00001
NM_001267550.2(TTN):c.50355A>G (p.Arg16785=) rs192143556 0.00001
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr) rs397517599 0.00001
NM_001267550.2(TTN):c.50614G>C (p.Ala16872Pro) rs727503619 0.00001
NM_001267550.2(TTN):c.50642G>C (p.Gly16881Ala) rs201302681 0.00001
NM_001267550.2(TTN):c.51439C>A (p.Pro17147Thr) rs876658065 0.00001
NM_001267550.2(TTN):c.51565A>G (p.Lys17189Glu) rs727503618 0.00001
NM_001267550.2(TTN):c.52061A>T (p.Asp17354Val) rs397517606 0.00001
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly) rs397517607 0.00001
NM_001267550.2(TTN):c.52181T>C (p.Leu17394Pro) rs727503616 0.00001
NM_001267550.2(TTN):c.52223A>C (p.Lys17408Thr) rs876658066 0.00001
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn) rs397517609 0.00001
NM_001267550.2(TTN):c.52330C>T (p.Arg17444Cys) rs778094750 0.00001
NM_001267550.2(TTN):c.52414G>A (p.Asp17472Asn) rs727503614 0.00001
NM_001267550.2(TTN):c.52667G>A (p.Ser17556Asn) rs750715335 0.00001
NM_001267550.2(TTN):c.53149C>T (p.Arg17717Cys) rs369001587 0.00001
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) rs397517612 0.00001
NM_001267550.2(TTN):c.53390C>T (p.Thr17797Ile) rs727503610 0.00001
NM_001267550.2(TTN):c.5354C>G (p.Thr1785Arg) rs397517649 0.00001
NM_001267550.2(TTN):c.53582-6C>G rs727503608 0.00001
NM_001267550.2(TTN):c.53717A>G (p.Lys17906Arg) rs727503606 0.00001
NM_001267550.2(TTN):c.53915G>A (p.Arg17972Gln) rs377169251 0.00001
NM_001267550.2(TTN):c.54188A>G (p.Tyr18063Cys) rs397517617 0.00001
NM_001267550.2(TTN):c.5418G>T (p.Leu1806Phe) rs397517650 0.00001
NM_001267550.2(TTN):c.54874G>C (p.Gly18292Arg) rs377512675 0.00001
NM_001267550.2(TTN):c.55270-3T>C rs749109513 0.00001
NM_001267550.2(TTN):c.55340C>T (p.Pro18447Leu) rs397517622 0.00001
NM_001267550.2(TTN):c.55598G>A (p.Cys18533Tyr) rs727503599 0.00001
NM_001267550.2(TTN):c.55805C>A (p.Pro18602His) rs559554374 0.00001
NM_001267550.2(TTN):c.55880A>C (p.Lys18627Thr) rs727503597 0.00001
NM_001267550.2(TTN):c.56747T>A (p.Val18916Glu) rs1296926879 0.00001
NM_001267550.2(TTN):c.57070A>G (p.Ile19024Val) rs876658068 0.00001
NM_001267550.2(TTN):c.57262G>T (p.Val19088Phe) rs727505347 0.00001
NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala) rs587782985 0.00001
NM_001267550.2(TTN):c.57415A>C (p.Ile19139Leu) rs397517629 0.00001
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His) rs371422299 0.00001
NM_001267550.2(TTN):c.583+5G>A rs397517663 0.00001
NM_001267550.2(TTN):c.58705G>A (p.Asp19569Asn) rs397517638 0.00001
NM_001267550.2(TTN):c.58711A>G (p.Met19571Val) rs770228515 0.00001
NM_001267550.2(TTN):c.58774A>G (p.Thr19592Ala) rs769094173 0.00001
NM_001267550.2(TTN):c.59360T>A (p.Ile19787Asn) rs768765076 0.00001
NM_001267550.2(TTN):c.59618T>C (p.Leu19873Pro) rs727503589 0.00001
NM_001267550.2(TTN):c.60023C>T (p.Pro20008Leu) rs199839492 0.00001
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu) rs771358314 0.00001
NM_001267550.2(TTN):c.60876G>C (p.Trp20292Cys) rs397517647 0.00001
NM_001267550.2(TTN):c.61149G>C (p.Lys20383Asn) rs727504968 0.00001
NM_001267550.2(TTN):c.61163C>G (p.Ala20388Gly) rs397517648 0.00001
NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser) rs756873840 0.00001
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys) rs562680371 0.00001
NM_001267550.2(TTN):c.62644A>G (p.Thr20882Ala) rs538308579 0.00001
NM_001267550.2(TTN):c.63035C>T (p.Pro21012Leu) rs1476856667 0.00001
NM_001267550.2(TTN):c.6380A>G (p.Tyr2127Cys) rs397517688 0.00001
NM_001267550.2(TTN):c.64147G>A (p.Ala21383Thr) rs727503582 0.00001
NM_001267550.2(TTN):c.64184G>C (p.Gly21395Ala) rs769161359 0.00001
NM_001267550.2(TTN):c.64682G>T (p.Gly21561Val) rs111829923 0.00001
NM_001267550.2(TTN):c.64826C>T (p.Thr21609Met) rs765913263 0.00001
NM_001267550.2(TTN):c.65179G>A (p.Gly21727Ser) rs756099303 0.00001
NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr) rs727503580 0.00001
NM_001267550.2(TTN):c.66479C>T (p.Pro22160Leu) rs777364605 0.00001
NM_001267550.2(TTN):c.66610G>A (p.Val22204Met) rs376238023 0.00001
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His) rs144295295 0.00001
NM_001267550.2(TTN):c.68282C>T (p.Ser22761Phe) rs397517676 0.00001
NM_001267550.2(TTN):c.68335C>A (p.His22779Asn) rs727504702 0.00001
NM_001267550.2(TTN):c.6844T>C (p.Tyr2282His) rs727503691 0.00001
NM_001267550.2(TTN):c.69325G>A (p.Glu23109Lys) rs727503571 0.00001
NM_001267550.2(TTN):c.6941T>C (p.Ile2314Thr) rs397517708 0.00001
NM_001267550.2(TTN):c.70045G>A (p.Glu23349Lys) rs397517682 0.00001
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met) rs397517683 0.00001
NM_001267550.2(TTN):c.70530G>A (p.Met23510Ile) rs727503569 0.00001
NM_001267550.2(TTN):c.70843G>A (p.Ala23615Thr) rs574614034 0.00001
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile) rs397517690 0.00001
NM_001267550.2(TTN):c.71909G>A (p.Arg23970Gln) rs727503563 0.00001
NM_001267550.2(TTN):c.72994G>T (p.Val24332Phe) rs876658081 0.00001
NM_001267550.2(TTN):c.73124C>T (p.Pro24375Leu) rs376041680 0.00001
NM_001267550.2(TTN):c.73390C>T (p.Arg24464Trp) rs369098292 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.74968G>A (p.Gly24990Ser) rs727503561 0.00001
NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu) rs531281558 0.00001
NM_001267550.2(TTN):c.75155G>A (p.Arg25052His) rs542720402 0.00001
NM_001267550.2(TTN):c.75364G>A (p.Val25122Met) rs376821762 0.00001
NM_001267550.2(TTN):c.7556T>C (p.Val2519Ala) rs372361514 0.00001
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe) rs374494927 0.00001
NM_001267550.2(TTN):c.76565T>C (p.Ile25522Thr) rs372963832 0.00001
NM_001267550.2(TTN):c.78577A>C (p.Ile26193Leu) rs727505241 0.00001
NM_001267550.2(TTN):c.79127C>A (p.Ala26376Glu) rs397517714 0.00001
NM_001267550.2(TTN):c.79145A>C (p.Asn26382Thr) rs727505049 0.00001
NM_001267550.2(TTN):c.79225C>T (p.Arg26409Cys) rs748258568 0.00001
NM_001267550.2(TTN):c.79885G>C (p.Glu26629Gln) rs727504673 0.00001
NM_001267550.2(TTN):c.80542G>C (p.Glu26848Gln) rs898433512 0.00001
NM_001267550.2(TTN):c.80608C>A (p.Pro26870Thr) rs397517718 0.00001
NM_001267550.2(TTN):c.81511T>C (p.Cys27171Arg) rs727504678 0.00001
NM_001267550.2(TTN):c.82021C>T (p.Arg27341Trp) rs746488250 0.00001
NM_001267550.2(TTN):c.82616C>G (p.Ser27539Cys) rs727503556 0.00001
NM_001267550.2(TTN):c.82859G>T (p.Cys27620Phe) rs762472521 0.00001
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val) rs727504723 0.00001
NM_001267550.2(TTN):c.83543T>C (p.Ile27848Thr) rs397517723 0.00001
NM_001267550.2(TTN):c.83560A>G (p.Thr27854Ala) rs876658086 0.00001
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser) rs727505053 0.00001
NM_001267550.2(TTN):c.84494A>G (p.His28165Arg) rs876658088 0.00001
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp) rs397517730 0.00001
NM_001267550.2(TTN):c.84962A>G (p.Gln28321Arg) rs760149145 0.00001
NM_001267550.2(TTN):c.85130T>C (p.Ile28377Thr) rs876658089 0.00001
NM_001267550.2(TTN):c.85195G>A (p.Glu28399Lys) rs397517732 0.00001
NM_001267550.2(TTN):c.85351C>T (p.Pro28451Ser) rs727503554 0.00001
NM_001267550.2(TTN):c.85649T>A (p.Val28550Asp) rs727505194 0.00001
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr) rs397517733 0.00001
NM_001267550.2(TTN):c.8609A>T (p.Gln2870Leu) rs372008728 0.00001
NM_001267550.2(TTN):c.86393G>A (p.Arg28798Lys) rs781458689 0.00001
NM_001267550.2(TTN):c.86435T>C (p.Ile28812Thr) rs727504959 0.00001
NM_001267550.2(TTN):c.87077C>T (p.Pro29026Leu) rs876658090 0.00001
NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys) rs727505102 0.00001
NM_001267550.2(TTN):c.88688G>A (p.Gly29563Asp) rs1335432771 0.00001
NM_001267550.2(TTN):c.89111A>G (p.Tyr29704Cys) rs727504503 0.00001
NM_001267550.2(TTN):c.89252T>C (p.Ile29751Thr) rs397517742 0.00001
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His) rs369279892 0.00001
NM_001267550.2(TTN):c.89628T>G (p.Asp29876Glu) rs397517743 0.00001
NM_001267550.2(TTN):c.90103C>T (p.Arg30035Cys) rs397517747 0.00001
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520 0.00001
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val) rs727504501 0.00001
NM_001267550.2(TTN):c.91879A>G (p.Ile30627Val) rs535151633 0.00001
NM_001267550.2(TTN):c.92383G>A (p.Val30795Ile) rs369025866 0.00001
NM_001267550.2(TTN):c.92455G>A (p.Val30819Ile) rs368511235 0.00001
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys) rs531432790 0.00001
NM_001267550.2(TTN):c.93322A>G (p.Ile31108Val) rs727504787 0.00001
NM_001267550.2(TTN):c.94045C>T (p.Arg31349Cys) rs727503549 0.00001
NM_001267550.2(TTN):c.9449G>A (p.Arg3150Gln) rs141093658 0.00001
NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala) rs369870689 0.00001
NM_001267550.2(TTN):c.94748G>A (p.Arg31583His) rs727503544 0.00001
NM_001267550.2(TTN):c.95281G>A (p.Glu31761Lys) rs727505342 0.00001
NM_001267550.2(TTN):c.95468A>G (p.His31823Arg) rs794729539 0.00001
NM_001267550.2(TTN):c.95567G>A (p.Arg31856His) rs876658093 0.00001
NM_001267550.2(TTN):c.95669G>T (p.Gly31890Val) rs763832653 0.00001
NM_001267550.2(TTN):c.95923C>T (p.Leu31975Phe) rs757718784 0.00001
NM_001267550.2(TTN):c.96535G>A (p.Val32179Met) rs727505082 0.00001
NM_001267550.2(TTN):c.96931A>G (p.Met32311Val) rs727504981 0.00001
NM_001267550.2(TTN):c.97051G>A (p.Glu32351Lys) rs727504879 0.00001
NM_001267550.2(TTN):c.97285G>A (p.Gly32429Ser) rs397517768 0.00001
NM_001267550.2(TTN):c.97319G>A (p.Arg32440His) rs750047570 0.00001
NM_001267550.2(TTN):c.97348G>A (p.Val32450Ile) rs397517769 0.00001
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val) rs397517771 0.00001
NM_001267550.2(TTN):c.98095C>T (p.Leu32699Phe) rs397517774 0.00001
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln) rs201696360 0.00001
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly) rs191054704 0.00001
NM_001267550.2(TTN):c.98684-10A>G rs727505072 0.00001
NM_001267550.2(TTN):c.98867T>C (p.Met32956Thr) rs727504962 0.00001
NM_001267550.2(TTN):c.99466C>T (p.His33156Tyr) rs374666520 0.00001
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro) rs397516447 0.00001
NM_001276345.2(TNNT2):c.233+6T>C rs397516449 0.00001
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) rs727504244 0.00001
NM_001276345.2(TNNT2):c.39G>A (p.Glu13=) rs727503516 0.00001
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=) rs727504322 0.00001
NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter) rs397516469 0.00001
NM_001276345.2(TNNT2):c.52+6C>T rs397516472 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 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.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_001277115.2(DNAH11):c.10441G>A (p.Glu3481Lys) rs727502969 0.00001
NM_001277115.2(DNAH11):c.3853-12T>A rs727502966 0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967 0.00001
NM_001292063.2(OTOG):c.262C>T (p.Arg88Trp) rs1260548574 0.00001
NM_001292063.2(OTOG):c.2885C>T (p.Ser962Leu) rs750521452 0.00001
NM_001292063.2(OTOG):c.2911G>A (p.Ala971Thr) rs897016393 0.00001
NM_001292063.2(OTOG):c.4147C>T (p.Arg1383Cys) rs566689671 0.00001
NM_001292063.2(OTOG):c.422G>A (p.Arg141Gln) rs1260721968 0.00001
NM_001292063.2(OTOG):c.494C>A (p.Thr165Asn) rs1396310498 0.00001
NM_001292063.2(OTOG):c.4991A>T (p.His1664Leu) rs1427538566 0.00001
NM_001292063.2(OTOG):c.6608T>A (p.Met2203Lys) rs1311003002 0.00001
NM_001292063.2(OTOG):c.6997G>A (p.Val2333Met) rs188832359 0.00001
NM_001292063.2(OTOG):c.7423G>C (p.Gly2475Arg) rs771765463 0.00001
NM_001292063.2(OTOG):c.8038G>A (p.Glu2680Lys) rs758935605 0.00001
NM_001292063.2(OTOG):c.8326C>T (p.Arg2776Cys) rs948010343 0.00001
NM_001318895.3(FHL2):c.156+2T>C rs727503059 0.00001
NM_001318895.3(FHL2):c.724C>T (p.Arg242Trp) rs397517961 0.00001
NM_001330.5(CTF1):c.25+6G>C rs397516647 0.00001
NM_001330.5(CTF1):c.26-12C>G rs727502948 0.00001
NM_001330.5(CTF1):c.546C>T (p.Arg182=) rs397516651 0.00001
NM_001330691.3(CEP78):c.1797+5A>G rs750594582 0.00001
NM_001354604.2(MITF):c.1108C>G (p.Arg370Gly) rs372113245 0.00001
NM_001354604.2(MITF):c.355-8A>G rs876657867 0.00001
NM_001354604.2(MITF):c.590A>G (p.Tyr197Cys) rs763827931 0.00001
NM_001365276.2(TNXB):c.4996C>T (p.Arg1666Ter) rs746016355 0.00001
NM_001369.3(DNAH5):c.11869G>A (p.Asp3957Asn) rs749548708 0.00001
NM_001369.3(DNAH5):c.6305G>A (p.Arg2102His) rs876657782 0.00001
NM_001369.3(DNAH5):c.6579+3A>G rs727502976 0.00001
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile) rs756216163 0.00001
NM_001371333.1(DIABLO):c.349T>C (p.Tyr117His) rs764412748 0.00001
NM_001378454.1(ALMS1):c.10058C>G (p.Pro3353Arg) rs760647310 0.00001
NM_001378454.1(ALMS1):c.5887G>A (p.Glu1963Lys) rs45484791 0.00001
NM_001378454.1(ALMS1):c.6071A>C (p.Lys2024Thr) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg) rs369339997 0.00001
NM_001378454.1(ALMS1):c.7217C>T (p.Pro2406Leu) rs1481573722 0.00001
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser) rs866357733 0.00001
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu) rs372886271 0.00001
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro) rs759591871 0.00001
NM_001378609.3(OTOGL):c.1102G>A (p.Ala368Thr) rs767747155 0.00001
NM_001378609.3(OTOGL):c.1396G>T (p.Val466Leu) rs760941023 0.00001
NM_001378609.3(OTOGL):c.242G>A (p.Cys81Tyr) rs775349315 0.00001
NM_001378609.3(OTOGL):c.2506A>G (p.Thr836Ala) rs876657946 0.00001
NM_001378609.3(OTOGL):c.2849T>C (p.Ile950Thr) rs749226050 0.00001
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_001378609.3(OTOGL):c.3376C>A (p.Gln1126Lys) rs876657947 0.00001
NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr) rs770438244 0.00001
NM_001378609.3(OTOGL):c.454G>T (p.Asp152Tyr) rs1399912212 0.00001
NM_001378609.3(OTOGL):c.5758G>T (p.Val1920Phe) rs768024118 0.00001
NM_001378609.3(OTOGL):c.647T>C (p.Ile216Thr) rs751591512 0.00001
NM_001378609.3(OTOGL):c.816A>G (p.Gln272=) rs772509606 0.00001
NM_001378609.3(OTOGL):c.937G>C (p.Ala313Pro) rs753400665 0.00001
NM_001379180.1(ESRRB):c.*1550C>A rs772147649 0.00001
NM_001379180.1(ESRRB):c.538C>T (p.Arg180Cys) rs576940797 0.00001
NM_001382.4(DPAGT1):c.643+2T>C rs774754436 0.00001
NM_001384140.1(PCDH15):c.1121C>T (p.Pro374Leu) rs397517449 0.00001
NM_001384140.1(PCDH15):c.161C>T (p.Thr54Ile) rs727505253 0.00001
NM_001384140.1(PCDH15):c.2354A>G (p.Tyr785Cys) rs753912234 0.00001
NM_001384140.1(PCDH15):c.2439T>A (p.Asp813Glu) rs397517453 0.00001
NM_001384140.1(PCDH15):c.3122+3A>G rs373365331 0.00001
NM_001384140.1(PCDH15):c.3719T>A (p.Val1240Asp) rs397517458 0.00001
NM_001384140.1(PCDH15):c.4672-1689G>A rs185457086 0.00001
NM_001384474.1(LOXHD1):c.*4G>A rs876657856 0.00001
NM_001384474.1(LOXHD1):c.1061T>A (p.Leu354His) rs727503150 0.00001
NM_001384474.1(LOXHD1):c.1469G>A (p.Arg490Gln) rs397517860 0.00001
NM_001384474.1(LOXHD1):c.1912G>A (p.Val638Met) rs876657854 0.00001
NM_001384474.1(LOXHD1):c.2035G>A (p.Ala679Thr) rs779377762 0.00001
NM_001384474.1(LOXHD1):c.2332G>A (p.Gly778Ser) rs876657860 0.00001
NM_001384474.1(LOXHD1):c.2677G>A (p.Val893Met) rs769899814 0.00001
NM_001384474.1(LOXHD1):c.2729C>T (p.Pro910Leu) rs534815867 0.00001
NM_001384474.1(LOXHD1):c.3412G>A (p.Glu1138Lys) rs1230147513 0.00001
NM_001384474.1(LOXHD1):c.3428A>T (p.Asp1143Val) rs727503143 0.00001
NM_001384474.1(LOXHD1):c.3657T>A (p.Asp1219Glu) rs397517862 0.00001
NM_001384474.1(LOXHD1):c.37A>G (p.Ile13Val) rs1384593055 0.00001
NM_001384474.1(LOXHD1):c.4256C>T (p.Thr1419Ile) rs866017859 0.00001
NM_001384474.1(LOXHD1):c.4281T>G (p.Ile1427Met) rs727503140 0.00001
NM_001384474.1(LOXHD1):c.4349A>G (p.Tyr1450Cys) rs1416571809 0.00001
NM_001384474.1(LOXHD1):c.458G>A (p.Arg153His) rs778691392 0.00001
NM_001384474.1(LOXHD1):c.5089G>A (p.Gly1697Ser) rs876657853 0.00001
NM_001384474.1(LOXHD1):c.5273T>A (p.Val1758Asp) rs727503139 0.00001
NM_001384474.1(LOXHD1):c.5314G>A (p.Gly1772Arg) rs775186197 0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg) rs780560784 0.00001
NM_001384474.1(LOXHD1):c.6340G>A (p.Val2114Met) rs1336623338 0.00001
NM_001384474.1(LOXHD1):c.6572A>G (p.Lys2191Arg) rs1410560877 0.00001
NM_001384474.1(LOXHD1):c.6595G>A (p.Glu2199Lys) rs376559755 0.00001
NM_001384474.1(LOXHD1):c.663C>G (p.Asp221Glu) rs1304841781 0.00001
NM_001386795.1(DTNA):c.17G>C (p.Gly6Ala) rs397517446 0.00001
NM_001386795.1(DTNA):c.435G>A (p.Met145Ile) rs751953774 0.00001
NM_001393500.2(TOMT):c.630C>G (p.Asp210Glu) rs876657863 0.00001
NM_001393500.2(TOMT):c.97C>G (p.Leu33Val) rs876657864 0.00001
NM_001563.4(IMPG1):c.1795C>T (p.Arg599Ter) rs1335348760 0.00001
NM_001692.4(ATP6V1B1):c.305G>A (p.Arg102Lys) rs202011016 0.00001
NM_001844.5(COL2A1):c.3205G>C (p.Ala1069Pro) rs200112269 0.00001
NM_001927.4(DES):c.369del (p.Ile123fs) rs747289875 0.00001
NM_001927.4(DES):c.79G>A (p.Gly27Ser) rs727504877 0.00001
NM_001927.4(DES):c.853G>A (p.Ala285Thr) rs876657771 0.00001
NM_001927.4(DES):c.974G>A (p.Arg325Gln) rs766035912 0.00001
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu) rs727505208 0.00001
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn) rs753406968 0.00001
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060 0.00001
NM_001943.5(DSG2):c.160G>A (p.Ala54Thr) rs549421694 0.00001
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile) rs727502989 0.00001
NM_001943.5(DSG2):c.2648C>T (p.Ser883Phe) rs371498622 0.00001
NM_001943.5(DSG2):c.308T>C (p.Val103Ala) rs876657790 0.00001
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380 0.00001
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) rs374875442 0.00001
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726 0.00001
NM_001987.5(ETV6):c.1037A>G (p.Tyr346Cys) rs1591749369 0.00001
NM_002109.6(HARS1):c.1177G>A (p.Val393Met) rs192923161 0.00001
NM_002230.4(JUP):c.1213G>A (p.Val405Ile) rs200019016 0.00001
NM_002230.4(JUP):c.1696G>A (p.Ala566Thr) rs727504695 0.00001
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp) rs782205755 0.00001
NM_002230.4(JUP):c.708-7C>T rs397517301 0.00001
NM_002294.3(LAMP2):c.1093+2449C>T rs765143363 0.00001
NM_002294.3(LAMP2):c.1211A>T (p.His404Leu) rs727504957 0.00001
NM_002294.3(LAMP2):c.214G>A (p.Val72Met) rs778193991 0.00001
NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys) rs778886029 0.00001
NM_002471.4(MYH6):c.253G>A (p.Asp85Asn) rs397516758 0.00001
NM_002471.4(MYH6):c.2980C>A (p.Leu994Met) rs727503238 0.00001
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn) rs375169402 0.00001
NM_002471.4(MYH6):c.328G>A (p.Ala110Thr) rs397516760 0.00001
NM_002471.4(MYH6):c.3758C>T (p.Thr1253Met) rs201051663 0.00001
NM_002471.4(MYH6):c.3784C>T (p.Arg1262Cys) rs397516763 0.00001
NM_002471.4(MYH6):c.4165G>A (p.Glu1389Lys) rs397516768 0.00001
NM_002471.4(MYH6):c.4176-6G>T rs760780588 0.00001
NM_002471.4(MYH6):c.4300G>A (p.Val1434Ile) rs397516769 0.00001
NM_002471.4(MYH6):c.4307G>A (p.Arg1436His) rs142556730 0.00001
NM_002471.4(MYH6):c.5072G>A (p.Arg1691His) rs727504502 0.00001
NM_002471.4(MYH6):c.5089A>G (p.Thr1697Ala) rs727503233 0.00001
NM_002471.4(MYH6):c.568C>T (p.Arg190Cys) rs397516777 0.00001
NM_002473.6(MYH9):c.2077C>T (p.Arg693Cys) rs751852988 0.00001
NM_002473.6(MYH9):c.2789G>A (p.Arg930His) rs727504740 0.00001
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu) rs368797590 0.00001
NM_002473.6(MYH9):c.3903G>C (p.Lys1301Asn) rs767235227 0.00001
NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr) rs373912645 0.00001
NM_002473.6(MYH9):c.4448G>A (p.Arg1483Gln) rs727503285 0.00001
NM_002473.6(MYH9):c.4927C>A (p.Leu1643Met) rs727504669 0.00001
NM_002473.6(MYH9):c.5177G>A (p.Arg1726His) rs777701033 0.00001
NM_002473.6(MYH9):c.519-6T>G rs867195616 0.00001
NM_002473.6(MYH9):c.968T>C (p.Met323Thr) rs1364094810 0.00001
NM_002667.5(PLN):c.61C>A (p.Pro21Thr) rs397516786 0.00001
NM_002691.4(POLD1):c.1573C>T (p.Arg525Trp) rs201804732 0.00001
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_002691.4(POLD1):c.868G>A (p.Val290Met) rs748657880 0.00001
NM_002755.4(MAP2K1):c.1039G>A (p.Ala347Thr) rs746354996 0.00001
NM_002755.4(MAP2K1):c.251A>G (p.Lys84Arg) rs774932586 0.00001
NM_002755.4(MAP2K1):c.263A>G (p.Lys88Arg) rs762354445 0.00001
NM_002755.4(MAP2K1):c.631G>A (p.Val211Ile) rs727505206 0.00001
NM_002755.4(MAP2K1):c.939G>C (p.Leu313Phe) rs1361965478 0.00001
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys) rs41299183 0.00001
NM_002834.5(PTPN11):c.1366G>A (p.Val456Met) rs397516796 0.00001
NM_002834.5(PTPN11):c.1713-5T>A rs876657964 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002880.4(RAF1):c.1063A>G (p.Ile355Val) rs727504719 0.00001
NM_002880.4(RAF1):c.1688G>A (p.Arg563Gln) rs727504827 0.00001
NM_002880.4(RAF1):c.321T>C (p.Gly107=) rs201937982 0.00001
NM_002880.4(RAF1):c.536A>G (p.Lys179Arg) rs1271531726 0.00001
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln) rs752713997 0.00001
NM_002887.4(RARS1):c.1414C>T (p.Arg472Ter) rs180760483 0.00001
NM_002906.4(RDX):c.1364A>C (p.Asp455Ala) rs727505062 0.00001
NM_002906.4(RDX):c.1729A>G (p.Ile577Val) rs370958814 0.00001
NM_002906.4(RDX):c.995T>C (p.Ile332Thr) rs533107164 0.00001
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408 0.00001
NM_003068.5(SNAI2):c.571G>A (p.Gly191Ser) rs757418816 0.00001
NM_003280.3(TNNC1):c.402G>T (p.Glu134Asp) rs397516847 0.00001
NM_003280.3(TNNC1):c.442A>G (p.Ile148Val) rs397516848 0.00001
NM_003280.3(TNNC1):c.454+6C>G rs750021293 0.00001
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) rs267607123 0.00001
NM_003476.5(CSRP3):c.152C>A (p.Ala51Asp) rs397516853 0.00001
NM_003476.5(CSRP3):c.197A>G (p.Tyr66Cys) rs397516854 0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504 0.00001
NM_003664.5(AP3B1):c.1814C>A (p.Pro605Gln) rs374289196 0.00001
NM_003673.4(TCAP):c.473G>A (p.Arg158His) rs397516864 0.00001
NM_003803.4(MYOM1):c.*10C>T rs876657915 0.00001
NM_003803.4(MYOM1):c.4351C>G (p.Leu1451Val) rs876657917 0.00001
NM_003803.4(MYOM1):c.4586A>G (p.Tyr1529Cys) rs876657918 0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn) rs199790409 0.00001
NM_004006.3(DMD):c.4175A>G (p.Gln1392Arg) rs876657779 0.00001
NM_004086.3(COCH):c.263G>T (p.Gly88Val) rs121908928 0.00001
NM_004086.3(COCH):c.764T>C (p.Phe255Ser) rs1555311790 0.00001
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu) rs1168354526 0.00001
NM_004100.5(EYA4):c.1109G>A (p.Arg370His) rs143936434 0.00001
NM_004100.5(EYA4):c.1294G>C (p.Val432Leu) rs145253833 0.00001
NM_004100.5(EYA4):c.512G>T (p.Gly171Val) rs1157191952 0.00001
NM_004100.5(EYA4):c.723A>G (p.Pro241=) rs556550485 0.00001
NM_004100.5(EYA4):c.811C>G (p.Pro271Ala) rs752023028 0.00001
NM_004100.5(EYA4):c.901G>A (p.Asp301Asn) rs779172192 0.00001
NM_004230.4(S1PR2):c.878G>A (p.Arg293Gln) rs376403797 0.00001
NM_004281.4(BAG3):c.1118G>A (p.Cys373Tyr) rs876657745 0.00001
NM_004281.4(BAG3):c.1217C>T (p.Thr406Ile) rs727502900 0.00001
NM_004281.4(BAG3):c.283C>G (p.Pro95Ala) rs727502898 0.00001
NM_004281.4(BAG3):c.362G>A (p.Arg121Gln) rs876657746 0.00001
NM_004281.4(BAG3):c.826C>T (p.Arg276Trp) rs759573189 0.00001
NM_004329.3(BMPR1A):c.506_507insTCC (p.Ile169_Phe170insPro) rs763554505 0.00001
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637 0.00001
NM_004333.6(BRAF):c.316G>A (p.Gly106Arg) rs749247588 0.00001
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=) rs746594822 0.00001
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln) rs397516916 0.00001
NM_004415.4(DSP):c.2131-10T>C rs369821143 0.00001
NM_004415.4(DSP):c.2850T>G (p.Ile950Met) rs727502999 0.00001
NM_004415.4(DSP):c.3200C>T (p.Ala1067Val) rs1317030435 0.00001
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys) rs577061462 0.00001
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln) rs397516942 0.00001
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) rs794728104 0.00001
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro) rs397516950 0.00001
NM_004415.4(DSP):c.6325G>A (p.Glu2109Lys) rs397516951 0.00001
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys) rs372242085 0.00001
NM_004415.4(DSP):c.8152C>A (p.Leu2718Ile) rs727504569 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_004415.4(DSP):c.8372G>A (p.Arg2791His) rs749339594 0.00001
NM_004415.4(DSP):c.844G>A (p.Glu282Lys) rs397516966 0.00001
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val) rs397516970 0.00001
NM_004517.4(ILK):c.632G>A (p.Arg211His) rs200288502 0.00001
NM_004700.4(KCNQ4):c.1216G>A (p.Asp406Asn) rs1264123218 0.00001
NM_004700.4(KCNQ4):c.1517C>T (p.Ala506Val) rs145732892 0.00001
NM_004700.4(KCNQ4):c.1531G>A (p.Val511Ile) rs778538229 0.00001
NM_004700.4(KCNQ4):c.2006A>G (p.His669Arg) rs749565877 0.00001
NM_004700.4(KCNQ4):c.386A>G (p.Asn129Ser) rs761034165 0.00001
NM_004700.4(KCNQ4):c.946-3T>A rs876657840 0.00001
NM_004817.4(TJP2):c.322A>T (p.Ser108Cys) rs727504668 0.00001
NM_004985.5(KRAS):c.407G>A (p.Ser136Asn) rs757816355 0.00001
NM_004999.4(MYO6):c.1079-5A>G rs774020683 0.00001
NM_004999.4(MYO6):c.178G>C (p.Glu60Gln) rs757420692 0.00001
NM_004999.4(MYO6):c.1853G>A (p.Arg618Gln) rs777201018 0.00001
NM_004999.4(MYO6):c.2507G>A (p.Arg836His) rs876657909 0.00001
NM_004999.4(MYO6):c.2837G>A (p.Arg946His) rs781754117 0.00001
NM_004999.4(MYO6):c.3137+5G>A rs397517050 0.00001
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559 0.00001
NM_005159.5(ACTC1):c.229A>G (p.Ile77Val) rs397517056 0.00001
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr) rs121912676 0.00001
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys) rs727505179 0.00001
NM_005188.4(CBL):c.1622A>T (p.Asp541Val) rs147285276 0.00001
NM_005188.4(CBL):c.1891A>G (p.Arg631Gly) rs552590011 0.00001
NM_005188.4(CBL):c.595A>G (p.Ile199Val) rs397517082 0.00001
NM_005219.5(DIAPH1):c.128G>A (p.Arg43Gln) rs727502964 0.00001
NM_005219.5(DIAPH1):c.2672T>C (p.Ile891Thr) rs727502961 0.00001
NM_005219.5(DIAPH1):c.635G>A (p.Arg212Gln) rs727504973 0.00001
NM_005219.5(DIAPH1):c.814C>G (p.Pro272Ala) rs778493344 0.00001
NM_005228.5(EGFR):c.2170G>A (p.Gly724Ser) rs1051753269 0.00001
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys) rs764622691 0.00001
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) rs727504496 0.00001
NM_005343.4(HRAS):c.450+84C>A rs727504926 0.00001
NM_005343.4(HRAS):c.482G>A (p.Arg161His) rs748729430 0.00001
NM_005422.4(TECTA):c.1129T>C (p.Trp377Arg) rs876658013 0.00001
NM_005422.4(TECTA):c.1699G>A (p.Ala567Thr) rs727503457 0.00001
NM_005422.4(TECTA):c.2752C>G (p.Pro918Ala) rs876658016 0.00001
NM_005422.4(TECTA):c.3440A>G (p.Asn1147Ser) rs1184726805 0.00001
NM_005422.4(TECTA):c.3619G>A (p.Val1207Met) rs746231346 0.00001
NM_005422.4(TECTA):c.3769G>A (p.Gly1257Ser) rs727504469 0.00001
NM_005422.4(TECTA):c.3857C>T (p.Pro1286Leu) rs770133038 0.00001
NM_005422.4(TECTA):c.3940T>C (p.Cys1314Arg) rs767018367 0.00001
NM_005422.4(TECTA):c.4067G>A (p.Gly1356Glu) rs727503461 0.00001
NM_005422.4(TECTA):c.430G>A (p.Val144Ile) rs973063526 0.00001
NM_005422.4(TECTA):c.4384C>T (p.Arg1462Cys) rs727503462 0.00001
NM_005422.4(TECTA):c.5839C>T (p.Arg1947Cys) rs1428598791 0.00001
NM_005422.4(TECTA):c.586G>A (p.Gly196Ser) rs751960882 0.00001
NM_005422.4(TECTA):c.6115C>T (p.His2039Tyr) rs727503465 0.00001
NM_005422.4(TECTA):c.706A>G (p.Thr236Ala) rs200752577 0.00001
NM_005548.3(KARS1):c.1232C>T (p.Thr411Met) rs768044754 0.00001
NM_005633.4(SOS1):c.1412G>C (p.Cys471Ser) rs397517151 0.00001
NM_005633.4(SOS1):c.1564A>C (p.Asn522His) rs761094509 0.00001
NM_005633.4(SOS1):c.2064-15G>T rs746484679 0.00001
NM_005633.4(SOS1):c.281T>C (p.Ile94Thr) rs397517161 0.00001
NM_005633.4(SOS1):c.350T>G (p.Val117Gly) rs201085754 0.00001
NM_005633.4(SOS1):c.3721A>G (p.Lys1241Glu) rs367693130 0.00001
NM_005633.4(SOS1):c.3734G>T (p.Gly1245Val) rs397517169 0.00001
NM_005633.4(SOS1):c.3763C>A (p.Pro1255Thr) rs972166211 0.00001
NM_005633.4(SOS1):c.688T>G (p.Phe230Val) rs397517177 0.00001
NM_005633.4(SOS1):c.88-14C>G rs727504900 0.00001
NM_005857.5(ZMPSTE24):c.955-1G>A rs764861582 0.00001
NM_006005.3(WFS1):c.-4C>T rs746340627 0.00001
NM_006005.3(WFS1):c.1015G>A (p.Asp339Asn) rs772392224 0.00001
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146 0.00001
NM_006005.3(WFS1):c.1103G>A (p.Ser368Asn) rs397517194 0.00001
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) rs149865710 0.00001
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) rs727503750 0.00001
NM_006005.3(WFS1):c.1556C>T (p.Ala519Val) rs201557396 0.00001
NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr) rs876658118 0.00001
NM_006005.3(WFS1):c.1837T>G (p.Trp613Gly) rs1730924133 0.00001
NM_006005.3(WFS1):c.2182G>A (p.Gly728Ser) rs202195756 0.00001
NM_006005.3(WFS1):c.2285A>G (p.Lys762Arg) rs876658119 0.00001
NM_006005.3(WFS1):c.2407G>A (p.Val803Met) rs745988826 0.00001
NM_006005.3(WFS1):c.2555_2560dup (p.Gln853_Leu854insProGln) rs730880368 0.00001
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) rs776685250 0.00001
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) rs727503747 0.00001
NM_006005.3(WFS1):c.83A>G (p.Asn28Ser) rs397517198 0.00001
NM_006005.3(WFS1):c.883G>A (p.Ala295Thr) rs537052067 0.00001
NM_006073.4(TRDN):c.17C>T (p.Ala6Val) rs764897557 0.00001
NM_006073.4(TRDN):c.990A>G (p.Lys330=) rs941068115 0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006231.4(POLE):c.1051G>A (p.Val351Ile) rs759414746 0.00001
NM_006231.4(POLE):c.1107-3C>T rs369572563 0.00001
NM_006231.4(POLE):c.1280C>T (p.Ala427Val) rs878854841 0.00001
NM_006231.4(POLE):c.1550C>T (p.Pro517Leu) rs780556141 0.00001
NM_006231.4(POLE):c.1744C>T (p.Leu582Phe) rs761273376 0.00001
NM_006231.4(POLE):c.218A>G (p.Asp73Gly) rs1060500786 0.00001
NM_006231.4(POLE):c.2711G>C (p.Gly904Ala) rs1332965505 0.00001
NM_006231.4(POLE):c.3223A>T (p.Ser1075Cys) rs145680387 0.00001
NM_006231.4(POLE):c.4012G>A (p.Glu1338Lys) rs751555395 0.00001
NM_006231.4(POLE):c.5221C>T (p.Gln1741Ter) rs781481160 0.00001
NM_006231.4(POLE):c.5270G>T (p.Ser1757Ile) rs878854882 0.00001
NM_006231.4(POLE):c.5591T>C (p.Ile1864Thr) rs896266569 0.00001
NM_006231.4(POLE):c.6257T>C (p.Met2086Thr) rs528752399 0.00001
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys) rs5745067 0.00001
NM_006231.4(POLE):c.797G>T (p.Arg266Leu) rs115786159 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006393.3(NEBL):c.1442C>T (p.Ala481Val) rs1237891829 0.00001
NM_006393.3(NEBL):c.1617del (p.Ser539fs) rs727504917 0.00001
NM_006393.3(NEBL):c.1904C>T (p.Ala635Val) rs727503335 0.00001
NM_006393.3(NEBL):c.2056-13T>G rs727504473 0.00001
NM_006393.3(NEBL):c.2588C>G (p.Ser863Cys) rs150152361 0.00001
NM_006393.3(NEBL):c.2681G>A (p.Gly894Glu) rs876657926 0.00001
NM_006393.3(NEBL):c.989A>G (p.Asn330Ser) rs876657927 0.00001
NM_006767.4(LZTR1):c.2471T>C (p.Leu824Pro) rs752239353 0.00001
NM_006912.6(RIT1):c.-43-74G>A rs730881012 0.00001
NM_006941.4(SOX10):c.71C>A (p.Ser24Tyr) rs1339336077 0.00001
NM_007078.3(LDB3):c.1016C>G (p.Ala339Gly) rs764530865 0.00001
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly) rs777547764 0.00001
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn) rs397517212 0.00001
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu) rs139709036 0.00001
NM_007078.3(LDB3):c.1786G>A (p.Val596Ile) rs727503130 0.00001
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter) rs727503132 0.00001
NM_007078.3(LDB3):c.1799G>A (p.Arg600Gln) rs747523570 0.00001
NM_007078.3(LDB3):c.2164G>A (p.Ala722Thr) rs727505129 0.00001
NM_007078.3(LDB3):c.343G>A (p.Gly115Ser) rs397517222 0.00001
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter) rs727503123 0.00001
NM_007078.3(LDB3):c.845C>T (p.Thr282Met) rs199811186 0.00001
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048 0.00001
NM_012208.4(HARS2):c.1217G>A (p.Arg406Gln) rs752472621 0.00001
NM_012208.4(HARS2):c.503G>A (p.Arg168His) rs764476456 0.00001
NM_012208.4(HARS2):c.697C>T (p.Arg233Cys) rs749799529 0.00001
NM_013296.5(GPSM2):c.1021G>A (p.Ala341Thr) rs727505313 0.00001
NM_013296.5(GPSM2):c.1034C>G (p.Ala345Gly) rs765450533 0.00001
NM_013296.5(GPSM2):c.818G>A (p.Arg273Gln) rs77121685 0.00001
NM_014000.3(VCL):c.163G>T (p.Val55Phe) rs755441334 0.00001
NM_014000.3(VCL):c.1798A>C (p.Ser600Arg) rs397517236 0.00001
NM_014000.3(VCL):c.313C>T (p.Arg105Ter) rs397517239 0.00001
NM_014000.3(VCL):c.3226C>T (p.Arg1076Trp) rs397517241 0.00001
NM_014000.3(VCL):c.610G>C (p.Val204Leu) rs727504585 0.00001
NM_014000.3(VCL):c.854G>A (p.Arg285His) rs397517246 0.00001
NM_014000.3(VCL):c.952C>T (p.Arg318Cys) rs397517247 0.00001
NM_014332.3(SMPX):c.182A>G (p.Lys61Arg) rs201681071 0.00001
NM_014391.3(ANKRD1):c.256G>C (p.Asp86His) rs573892607 0.00001
NM_014391.3(ANKRD1):c.458A>T (p.Lys153Ile) rs727502889 0.00001
NM_014391.3(ANKRD1):c.805C>T (p.Arg269Ter) rs397517254 0.00001
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn) rs876657786 0.00001
NM_015340.4(LARS2):c.2572C>A (p.Gln858Lys) rs777893707 0.00001
NM_015404.4(WHRN):c.1547C>T (p.Thr516Ile) rs756090687 0.00001
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr) rs201690920 0.00001
NM_015404.4(WHRN):c.2284G>A (p.Glu762Lys) rs757731586 0.00001
NM_015404.4(WHRN):c.725G>A (p.Arg242His) rs727505127 0.00001
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala) rs553128312 0.00001
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val) rs370257703 0.00001
NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu) rs373477232 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg) rs727504337 0.00001
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter) rs397517267 0.00001
NM_016203.4(PRKAG2):c.186G>T (p.Lys62Asn) rs369687307 0.00001
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu) rs397517271 0.00001
NM_016203.4(PRKAG2):c.685-7C>A rs397517278 0.00001
NM_016239.4(MYO15A):c.1525G>A (p.Asp509Asn) rs1450338630 0.00001
NM_016239.4(MYO15A):c.3005C>A (p.Thr1002Asn) rs758747812 0.00001
NM_016239.4(MYO15A):c.3866C>T (p.Pro1289Leu) rs192483691 0.00001
NM_016239.4(MYO15A):c.4026G>A (p.Met1342Ile) rs370707928 0.00001
NM_016239.4(MYO15A):c.4207-3C>G rs771434501 0.00001
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys) rs749812958 0.00001
NM_016239.4(MYO15A):c.4462G>A (p.Val1488Ile) rs748323602 0.00001
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr) rs576399072 0.00001
NM_016239.4(MYO15A):c.515T>C (p.Leu172Pro) rs1222532998 0.00001
NM_016239.4(MYO15A):c.5693G>A (p.Arg1898Gln) rs756752580 0.00001
NM_016239.4(MYO15A):c.6170A>C (p.His2057Pro) rs876657902 0.00001
NM_016239.4(MYO15A):c.6292G>A (p.Asp2098Asn) rs727503311 0.00001
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser) rs375459945 0.00001
NM_016239.4(MYO15A):c.700G>C (p.Glu234Gln) rs767935511 0.00001
NM_016239.4(MYO15A):c.7400G>A (p.Arg2467Gln) rs865982060 0.00001
NM_016239.4(MYO15A):c.7436A>G (p.Gln2479Arg) rs756565842 0.00001
NM_016239.4(MYO15A):c.7685C>T (p.Ser2562Phe) rs876657904 0.00001
NM_016239.4(MYO15A):c.8340+5G>A rs752773977 0.00001
NM_016239.4(MYO15A):c.8404A>G (p.Met2802Val) rs727503318 0.00001
NM_016239.4(MYO15A):c.869A>G (p.Tyr290Cys) rs766482387 0.00001
NM_016239.4(MYO15A):c.9517+12A>G rs727503320 0.00001
NM_016239.4(MYO15A):c.9880C>T (p.Arg3294Trp) rs377125285 0.00001
NM_016599.5(MYOZ2):c.649C>A (p.Pro217Thr) rs751294999 0.00001
NM_017433.5(MYO3A):c.1A>G (p.Met1Val) rs727504593 0.00001
NM_017433.5(MYO3A):c.2168A>G (p.Asn723Ser) rs771154512 0.00001
NM_017433.5(MYO3A):c.285G>T (p.Lys95Asn) rs1282051090 0.00001
NM_017433.5(MYO3A):c.4474C>A (p.Pro1492Thr) rs368473860 0.00001
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His) rs946083212 0.00001
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) rs376689092 0.00001
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu) rs778361949 0.00001
NM_017780.4(CHD7):c.3023A>G (p.Tyr1008Cys) rs776900495 0.00001
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702 0.00001
NM_017780.4(CHD7):c.3899C>A (p.Pro1300Gln) rs185150226 0.00001
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile) rs374602567 0.00001
NM_017950.4(CCDC40):c.1317+42G>A rs756283987 0.00001
NM_018139.3(DNAAF2):c.1795G>A (p.Ala599Thr) rs756765143 0.00001
NM_018139.3(DNAAF2):c.697G>A (p.Ala233Thr) rs761407249 0.00001
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His) rs397517184 0.00001
NM_020297.4(ABCC9):c.169C>T (p.Gln57Ter) rs727502876 0.00001
NM_020297.4(ABCC9):c.1933A>G (p.Lys645Glu) rs876657734 0.00001
NM_020297.4(ABCC9):c.1982G>A (p.Arg661His) rs397517185 0.00001
NM_020297.4(ABCC9):c.2081G>A (p.Arg694Gln) rs267603424 0.00001
NM_020297.4(ABCC9):c.2149G>A (p.Ala717Thr) rs397517187 0.00001
NM_020297.4(ABCC9):c.2425-13G>A rs397517188 0.00001
NM_020297.4(ABCC9):c.289C>T (p.Arg97Trp) rs727502875 0.00001
NM_020297.4(ABCC9):c.395A>G (p.Lys132Arg) rs727505161 0.00001
NM_020297.4(ABCC9):c.4352T>C (p.Val1451Ala) rs397517190 0.00001
NM_020297.4(ABCC9):c.4512+787A>G rs372859669 0.00001
NM_020297.4(ABCC9):c.47A>G (p.Asn16Ser) rs727502877 0.00001
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) rs104894342 0.00001
NM_020975.6(RET):c.3148C>G (p.Arg1050Gly) rs767479170 0.00001
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288 0.00001
NM_020975.6(RET):c.544C>A (p.Pro182Thr) rs775086466 0.00001
NM_020975.6(RET):c.937C>T (p.Arg313Trp) rs1057521089 0.00001
NM_021922.3(FANCE):c.1331T>C (p.Leu444Pro) rs745685973 0.00001
NM_022114.4(PRDM16):c.1877A>T (p.Asp626Val) rs876657958 0.00001
NM_022114.4(PRDM16):c.2060G>C (p.Gly687Ala) rs876657959 0.00001
NM_022114.4(PRDM16):c.2434C>T (p.Arg812Cys) rs876657960 0.00001
NM_022114.4(PRDM16):c.867G>A (p.Met289Ile) rs375991356 0.00001
NM_022124.6(CDH23):c.10027G>A (p.Val3343Met) rs756425157 0.00001
NM_022124.6(CDH23):c.1411G>A (p.Glu471Lys) rs778511495 0.00001
NM_022124.6(CDH23):c.1478G>A (p.Gly493Glu) rs397517308 0.00001
NM_022124.6(CDH23):c.1583G>A (p.Arg528His) rs761468283 0.00001
NM_022124.6(CDH23):c.1660G>A (p.Val554Ile) rs727504910 0.00001
NM_022124.6(CDH23):c.1678A>G (p.Thr560Ala) rs767986806 0.00001
NM_022124.6(CDH23):c.1859T>C (p.Val620Ala) rs775889210 0.00001
NM_022124.6(CDH23):c.2008A>T (p.Thr670Ser) rs1304555485 0.00001
NM_022124.6(CDH23):c.2104C>T (p.Arg702Trp) rs528779319 0.00001
NM_022124.6(CDH23):c.2836G>A (p.Val946Met) rs931850625 0.00001
NM_022124.6(CDH23):c.2840T>A (p.Val947Glu) rs397517318 0.00001
NM_022124.6(CDH23):c.2870G>A (p.Arg957His) rs748047907 0.00001
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) rs397517320 0.00001
NM_022124.6(CDH23):c.3305T>A (p.Phe1102Tyr) rs369002480 0.00001
NM_022124.6(CDH23):c.3337G>C (p.Glu1113Gln) rs397517322 0.00001
NM_022124.6(CDH23):c.3503G>A (p.Arg1168Gln) rs727502925 0.00001
NM_022124.6(CDH23):c.3925G>A (p.Glu1309Lys) rs111033468 0.00001
NM_022124.6(CDH23):c.4104+44C>T rs1483809141 0.00001
NM_022124.6(CDH23):c.4207-8G>T rs748187466 0.00001
NM_022124.6(CDH23):c.4359G>C (p.Gln1453His) rs1435336806 0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00001
NM_022124.6(CDH23):c.4694A>C (p.Tyr1565Ser) rs727504606 0.00001
NM_022124.6(CDH23):c.4730G>A (p.Arg1577His) rs771464282 0.00001
NM_022124.6(CDH23):c.5179A>G (p.Thr1727Ala) rs762005355 0.00001
NM_022124.6(CDH23):c.5353G>A (p.Asp1785Asn) rs397517338 0.00001
NM_022124.6(CDH23):c.6367G>A (p.Gly2123Arg) rs727504894 0.00001
NM_022124.6(CDH23):c.6465G>A (p.Ser2155=) rs373462599 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys) rs761082272 0.00001
NM_022124.6(CDH23):c.6829+3A>G rs780258798 0.00001
NM_022124.6(CDH23):c.7055-15G>A rs371872394 0.00001
NM_022124.6(CDH23):c.7132G>A (p.Gly2378Arg) rs181197242 0.00001
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln) rs727502932 0.00001
NM_022124.6(CDH23):c.7685C>T (p.Ser2562Leu) rs538435711 0.00001
NM_022124.6(CDH23):c.8065-9C>T rs397517355 0.00001
NM_022124.6(CDH23):c.8404A>G (p.Ile2802Val) rs766924822 0.00001
NM_022124.6(CDH23):c.8726G>A (p.Ser2909Asn) rs397517361 0.00001
NM_022124.6(CDH23):c.8G>A (p.Arg3His) rs397517363 0.00001
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp) rs397517364 0.00001
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn) rs368603948 0.00001
NM_022124.6(CDH23):c.9264G>C (p.Trp3088Cys) rs876657759 0.00001
NM_022124.6(CDH23):c.9503G>A (p.Arg3168His) rs754557923 0.00001
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_024009.3(GJB3):c.64C>T (p.Arg22Cys) rs145247495 0.00001
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs) rs746672224 0.00001
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His) rs727505249 0.00001
NM_024334.3(TMEM43):c.520G>A (p.Ala174Thr) rs397517385 0.00001
NM_024334.3(TMEM43):c.883-15C>A rs727504984 0.00001
NM_024334.3(TMEM43):c.961A>G (p.Met321Val) rs397517387 0.00001
NM_024422.6(DSC2):c.1521-5A>G rs397517392 0.00001
NM_024422.6(DSC2):c.2082G>T (p.Lys694Asn) rs397517397 0.00001
NM_024422.6(DSC2):c.2357T>C (p.Met786Thr) rs397517398 0.00001
NM_024422.6(DSC2):c.2446G>A (p.Val816Met) rs377700521 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.631-2A>G rs397514042 0.00001
NM_024422.6(DSC2):c.893A>T (p.His298Leu) rs397517407 0.00001
NM_024426.6(WT1):c.977G>C (p.Gly326Ala) rs766054482 0.00001
NM_030662.4(MAP2K2):c.1061C>T (p.Pro354Leu) rs879819202 0.00001
NM_030662.4(MAP2K2):c.1064C>T (p.Ala355Val) rs768826287 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_031475.3(ESPN):c.2026A>G (p.Thr676Ala) rs727504842 0.00001
NM_031475.3(ESPN):c.2120C>T (p.Pro707Leu) rs576917953 0.00001
NM_031475.3(ESPN):c.2552T>G (p.Ile851Ser) rs752357040 0.00001
NM_031475.3(ESPN):c.931C>A (p.Leu311Met) rs766939513 0.00001
NM_032119.4(ADGRV1):c.-26_-9del rs773996398 0.00001
NM_032119.4(ADGRV1):c.10466G>A (p.Gly3489Glu) rs780372483 0.00001
NM_032119.4(ADGRV1):c.11411G>A (p.Arg3804Gln) rs876657817 0.00001
NM_032119.4(ADGRV1):c.12424C>T (p.Arg4142Trp) rs534226753 0.00001
NM_032119.4(ADGRV1):c.12613T>G (p.Ser4205Ala) rs746448681 0.00001
NM_032119.4(ADGRV1):c.12637G>A (p.Glu4213Lys) rs397517421 0.00001
NM_032119.4(ADGRV1):c.1466C>T (p.Pro489Leu) rs371781264 0.00001
NM_032119.4(ADGRV1):c.16190C>T (p.Pro5397Leu) rs998194428 0.00001
NM_032119.4(ADGRV1):c.17192C>G (p.Ser5731Cys) rs727503086 0.00001
NM_032119.4(ADGRV1):c.17722G>A (p.Ala5908Thr) rs560274484 0.00001
NM_032119.4(ADGRV1):c.17857-11G>A rs918520562 0.00001
NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser) rs876657823 0.00001
NM_032119.4(ADGRV1):c.18125A>G (p.Gln6042Arg) rs764963960 0.00001
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His) rs757860505 0.00001
NM_032119.4(ADGRV1):c.305A>G (p.Asp102Gly) rs876657824 0.00001
NM_032119.4(ADGRV1):c.328G>A (p.Glu110Lys) rs876657822 0.00001
NM_032119.4(ADGRV1):c.3704A>G (p.Asn1235Ser) rs746622083 0.00001
NM_032119.4(ADGRV1):c.3943C>A (p.Gln1315Lys) rs764685377 0.00001
NM_032119.4(ADGRV1):c.4373C>G (p.Thr1458Ser) rs562424836 0.00001
NM_032119.4(ADGRV1):c.4771A>G (p.Thr1591Ala) rs775471701 0.00001
NM_032119.4(ADGRV1):c.6275-9G>T rs1206365367 0.00001
NM_032119.4(ADGRV1):c.670G>A (p.Glu224Lys) rs727504958 0.00001
NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp) rs397517434 0.00001
NM_032119.4(ADGRV1):c.7748A>G (p.Tyr2583Cys) rs778879752 0.00001
NM_032119.4(ADGRV1):c.8870G>A (p.Gly2957Glu) rs762211616 0.00001
NM_032119.4(ADGRV1):c.929G>A (p.Gly310Glu) rs766790920 0.00001
NM_032229.3(SLITRK6):c.1555T>C (p.Trp519Arg) rs1200848224 0.00001
NM_032229.3(SLITRK6):c.1754C>T (p.Thr585Ile) rs1229145139 0.00001
NM_032578.4(MYPN):c.1225C>T (p.Arg409Cys) rs757431496 0.00001
NM_032578.4(MYPN):c.2134G>C (p.Ala712Pro) rs876657921 0.00001
NM_032578.4(MYPN):c.3156C>T (p.His1052=) rs876657923 0.00001
NM_032578.4(MYPN):c.80G>C (p.Arg27Pro) rs529359915 0.00001
NM_033056.4(PCDH15):c.4846A>G (p.Thr1616Ala) rs751863041 0.00001
NM_033056.4(PCDH15):c.5372C>T (p.Pro1791Leu) rs1268531021 0.00001
NM_033056.4(PCDH15):c.5389C>T (p.Pro1797Ser) rs775203432 0.00001
NM_033118.4(MYLK2):c.1112T>C (p.Ile371Thr) rs727505336 0.00001
NM_033337.3(CAV3):c.6_7del (p.Met2fs) rs1060502318 0.00001
NM_033409.4(SLC52A3):c.1009G>A (p.Ala337Thr) rs139542858 0.00001
NM_033409.4(SLC52A3):c.634C>T (p.Arg212Cys) rs778479139 0.00001
NM_080680.3(COL11A2):c.1694G>A (p.Gly565Glu) rs781378391 0.00001
NM_080680.3(COL11A2):c.1880G>A (p.Arg627Gln) rs528989984 0.00001
NM_080680.3(COL11A2):c.2693G>A (p.Gly898Glu) rs727502941 0.00001
NM_080680.3(COL11A2):c.2812C>T (p.Pro938Ser) rs764935691 0.00001
NM_080680.3(COL11A2):c.3799-9C>G rs762361602 0.00001
NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys) rs727504543 0.00001
NM_080680.3(COL11A2):c.4924C>G (p.Leu1642Val) rs770715075 0.00001
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln) rs781633250 0.00001
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His) rs138667578 0.00001
NM_133261.3(GIPC3):c.271C>T (p.Leu91Phe) rs1599862314 0.00001
NM_133261.3(GIPC3):c.298G>A (p.Asp100Asn) rs727503063 0.00001
NM_133261.3(GIPC3):c.545A>C (p.Lys182Thr) rs904746365 0.00001
NM_133261.3(GIPC3):c.674G>A (p.Arg225His) rs727503064 0.00001
NM_133379.5(TTN):c.10633C>T (p.Pro3545Ser) rs373311410 0.00001
NM_133379.5(TTN):c.10684T>G (p.Ser3562Ala) rs727503673 0.00001
NM_133379.5(TTN):c.10880G>C (p.Gly3627Ala) rs727503674 0.00001
NM_133379.5(TTN):c.11066del (p.Val3689fs) rs727503671 0.00001
NM_133379.5(TTN):c.11168C>T (p.Thr3723Met) rs397517803 0.00001
NM_133379.5(TTN):c.11512C>T (p.Gln3838Ter) rs756000739 0.00001
NM_133379.5(TTN):c.11956C>T (p.Arg3986Cys) rs200935937 0.00001
NM_133379.5(TTN):c.12484C>T (p.Gln4162Ter) rs727504521 0.00001
NM_133379.5(TTN):c.12653T>C (p.Ile4218Thr) rs397517805 0.00001
NM_133379.5(TTN):c.13013A>G (p.His4338Arg) rs140583865 0.00001
NM_133379.5(TTN):c.13210A>G (p.Arg4404Gly) rs397517807 0.00001
NM_133379.5(TTN):c.14552T>C (p.Ile4851Thr) rs143310631 0.00001
NM_133379.5(TTN):c.14902G>A (p.Asp4968Asn) rs371444691 0.00001
NM_133379.5(TTN):c.15169G>T (p.Glu5057Ter) rs727503665 0.00001
NM_133379.5(TTN):c.15338C>T (p.Ala5113Val) rs397517816 0.00001
NM_133379.5(TTN):c.15487C>T (p.Arg5163Cys) rs727504760 0.00001
NM_133379.5(TTN):c.15653G>A (p.Arg5218Gln) rs727505032 0.00001
NM_133379.5(TTN):c.15961G>A (p.Val5321Ile) rs397517817 0.00001
NM_133379.5(TTN):c.16353C>G (p.Tyr5451Ter) rs397517821 0.00001
NM_138691.3(TMC1):c.1189G>A (p.Asp397Asn) rs185702148 0.00001
NM_138691.3(TMC1):c.2044G>C (p.Glu682Gln) rs199819595 0.00001
NM_138691.3(TMC1):c.2068G>A (p.Ala690Thr) rs397517838 0.00001
NM_138691.3(TMC1):c.543T>G (p.Phe181Leu) rs989635871 0.00001
NM_138691.3(TMC1):c.637C>T (p.Pro213Ser) rs745569653 0.00001
NM_138691.3(TMC1):c.884+2dup rs876658020 0.00001
NM_139319.3(SLC17A8):c.705G>A (p.Met235Ile) rs144556614 0.00001
NM_144573.4(NEXN):c.1234A>G (p.Arg412Gly) rs768693715 0.00001
NM_144573.4(NEXN):c.1366G>A (p.Gly456Arg) rs397517844 0.00001
NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly) rs539665448 0.00001
NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu) rs727504758 0.00001
NM_144573.4(NEXN):c.1609_1610insA (p.Leu537fs) rs779350415 0.00001
NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg) rs876657929 0.00001
NM_144573.4(NEXN):c.299-3T>C rs397517856 0.00001
NM_144573.4(NEXN):c.341_342del (p.Gln114fs) rs397517857 0.00001
NM_144612.3(LOXHD1):c.3328G>T (p.Ala1110Ser) rs727504587 0.00001
NM_144672.4(OTOA):c.1292T>C (p.Leu431Ser) rs1332276288 0.00001
NM_144672.4(OTOA):c.2305C>T (p.Pro769Ser) rs769182891 0.00001
NM_144672.4(OTOA):c.401A>G (p.Asp134Gly) rs753359371 0.00001
NM_144991.3(TSPEAR):c.1786G>A (p.Glu596Lys) rs782790512 0.00001
NM_144991.3(TSPEAR):c.802C>T (p.Arg268Ter) rs782471965 0.00001
NM_144991.3(TSPEAR):c.81A>C (p.Thr27=) rs149709159 0.00001
NM_147196.3(TMIE):c.419A>G (p.Lys140Arg) rs201397940 0.00001
NM_152701.5(ABCA13):c.11920C>T (p.Arg3974Ter) rs544438554 0.00001
NM_153676.4(USH1C):c.1211-1107C>T rs727504667 0.00001
NM_153676.4(USH1C):c.1476G>T (p.Arg492Ser) rs765918184 0.00001
NM_153676.4(USH1C):c.1516A>G (p.Asn506Asp) rs868001349 0.00001
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser) rs775363189 0.00001
NM_153676.4(USH1C):c.164G>A (p.Arg55His) rs1042393529 0.00001
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val) rs727505187 0.00001
NM_153676.4(USH1C):c.2000C>T (p.Pro667Leu) rs1157049229 0.00001
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874 0.00001
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe) rs140313023 0.00001
NM_153676.4(USH1C):c.2311G>A (p.Gly771Ser) rs727505083 0.00001
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr) rs150593932 0.00001
NM_153676.4(USH1C):c.2577C>A (p.Ser859Arg) rs199827989 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_153676.4(USH1C):c.497-3C>A rs958295779 0.00001
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934 0.00001
NM_153700.2(STRC):c.3404T>G (p.Leu1135Arg) rs876658009 0.00001
NM_153700.2(STRC):c.4279A>G (p.Ser1427Gly) rs760961629 0.00001
NM_153700.2(STRC):c.436G>A (p.Gly146Arg) rs757152351 0.00001
NM_170682.4(P2RX2):c.1090C>G (p.Leu364Val) rs749812549 0.00001
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys) rs727504852 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.1363C>T (p.Arg455Cys) rs397517892 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.1699-8C>G rs727503137 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg) rs397517898 0.00001
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) rs58917027 0.00001
NM_170707.4(LMNA):c.640-11A>C rs727504932 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_173477.5(USH1G):c.1179G>T (p.Glu393Asp) rs146287064 0.00001
NM_173477.5(USH1G):c.1217C>G (p.Ala406Gly) rs1282068985 0.00001
NM_173477.5(USH1G):c.43G>C (p.Glu15Gln) rs757653096 0.00001
NM_173477.5(USH1G):c.481A>C (p.Met161Leu) rs1167902295 0.00001
NM_173477.5(USH1G):c.734C>T (p.Ser245Leu) rs397517928 0.00001
NM_174936.4(PCSK9):c.2004C>A (p.Ser668Arg) rs762298323 0.00001
NM_178335.3(CCDC50):c.226C>T (p.Arg76Cys) rs575240044 0.00001
NM_178335.3(CCDC50):c.923C>G (p.Pro308Arg) rs1064796789 0.00001
NM_178857.6(RP1L1):c.5247C>G (p.Ser1749Arg) rs778715898 0.00001
NM_182548.4(LHFPL5):c.176C>A (p.Ala59Glu) rs876657848 0.00001
NM_182548.4(LHFPL5):c.638C>A (p.Ala213Glu) rs555379908 0.00001
NM_182746.3(MCM4):c.832+2T>C rs1408879284 0.00001
NM_194248.3(OTOF):c.1614C>A (p.Asn538Lys) rs111033350 0.00001
NM_194248.3(OTOF):c.2248A>G (p.Lys750Glu) rs551919295 0.00001
NM_194248.3(OTOF):c.224A>G (p.Asn75Ser) rs775875524 0.00001
NM_194248.3(OTOF):c.251T>C (p.Val84Ala) rs727505096 0.00001
NM_194248.3(OTOF):c.3290T>C (p.Ile1097Thr) rs764162969 0.00001
NM_194248.3(OTOF):c.3316C>A (p.Pro1106Thr) rs727505141 0.00001
NM_194248.3(OTOF):c.3408+5G>A rs760279912 0.00001
NM_194248.3(OTOF):c.3571-6C>A rs397517944 0.00001
NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn) rs774929350 0.00001
NM_194248.3(OTOF):c.4128G>T (p.Arg1376Ser) rs764461086 0.00001
NM_194248.3(OTOF):c.4213A>G (p.Ile1405Val) rs201123430 0.00001
NM_194248.3(OTOF):c.4227+5G>C rs571671530 0.00001
NM_194248.3(OTOF):c.4561C>T (p.Leu1521=) rs905144471 0.00001
NM_194248.3(OTOF):c.4681G>A (p.Val1561Met) rs763032357 0.00001
NM_194248.3(OTOF):c.523G>A (p.Val175Met) rs765791956 0.00001
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099 0.00001
NM_194248.3(OTOF):c.80G>A (p.Gly27Glu) rs778056468 0.00001
NM_198253.3(TERT):c.1604G>A (p.Arg535His) rs768398955 0.00001
NM_198253.3(TERT):c.2225G>A (p.Arg742His) rs727503468 0.00001
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile) rs193922728 0.00001
NM_201596.3(CACNB2):c.1873C>T (p.Arg625Cys) rs1060499847 0.00001
NM_203447.4(DOCK8):c.3487C>T (p.Leu1163Phe) rs577097803 0.00001
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile) rs397517970 0.00001
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg) rs397517971 0.00001
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys) rs111033395 0.00001
NM_206933.4(USH2A):c.11596G>C (p.Ala3866Pro) rs1571639421 0.00001
NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile) rs1401744202 0.00001
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322 0.00001
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His) rs397517980 0.00001
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys) rs141943290 0.00001
NM_206933.4(USH2A):c.12633T>G (p.Ile4211Met) rs727503716 0.00001
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys) rs921800139 0.00001
NM_206933.4(USH2A):c.14328T>G (p.His4776Gln) rs1220949681 0.00001
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe) rs41308423 0.00001
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile) rs397517996 0.00001
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly) rs397518005 0.00001
NM_206933.4(USH2A):c.2167+4C>T rs200638562 0.00001
NM_206933.4(USH2A):c.2479A>C (p.Asn827His) rs876658114 0.00001
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser) rs372843685 0.00001
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) rs727503734 0.00001
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn) rs202247801 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile) rs961580455 0.00001
NM_206933.4(USH2A):c.4559T>A (p.Ile1520Asn) rs727503730 0.00001
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys) rs529355834 0.00001
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp) rs397518024 0.00001
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn) rs727503724 0.00001
NM_206933.4(USH2A):c.652-9T>G rs1231791432 0.00001
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met) rs727503721 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr) rs374569301 0.00001
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile) rs876658115 0.00001
NM_206933.4(USH2A):c.7591G>A (p.Asp2531Asn) rs372989431 0.00001
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu) rs397518034 0.00001
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu) rs549796389 0.00001
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035 0.00001
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg) rs397518037 0.00001
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390 0.00001
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His) rs111033456 0.00001
NM_206933.4(USH2A):c.9956C>T (p.Pro3319Leu) rs761386458 0.00001
NC_000001.10:g.(?_3313055)_(3313157_?)del
NC_000006.11:g.(?_7585983)_(7586222_?)dup
NC_000006.12:g.(?_35805660)_(35819505_?)dup
NC_000009.12:g.(?_114402754)_(114504801_?)dup
NC_000011.9:g.(?_532631)_(534375_?)dup
NC_000015.10:g.(?_43638998)_(43639062_?)dup
NC_000015.9:g.(?_43891870)_(43897597_?)dup
NC_000015.9:g.(?_43892732)_(43893212_?)dup
NC_000015.9:g.(?_43892732)_(43901532_?)dup
NC_000015.9:g.(?_43893070)_(43903182_?)dup
NC_000015.9:g.(?_43900061)_(43901532_?)dup
NC_000022.11:g.(?_37738534)_(37741122_?)del
NC_012920.1(MT-CYB):m.1106C>T rs1603218523
NC_012920.1(MT-CYB):m.1183T>C rs1556422511
NC_012920.1(MT-CYB):m.962C>T rs1556422500
NC_012920.1(MT-ND1):m.1377C>A rs1603218549
NC_012920.1:m.1375C>T rs727504803
NC_012920.1:m.7502C>T rs876657868
NM_000020.3(ACVRL1):c.1478del (p.Ser493fs) rs1060499838
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000038.6(APC):c.1462C>T (p.Leu488Phe) rs587779782
NM_000038.6(APC):c.2383C>G (p.Leu795Val) rs1442780982
NM_000038.6(APC):c.2819C>G (p.Ser940Trp) rs544709767
NM_000038.6(APC):c.3365A>G (p.Asn1122Ser) rs372855304
NM_000038.6(APC):c.4540C>T (p.Pro1514Ser) rs1060503266
NM_000038.6(APC):c.4546A>G (p.Ile1516Val) rs1554085952
NM_000038.6(APC):c.4885C>G (p.His1629Asp) rs765849654
NM_000038.6(APC):c.5201A>C (p.Lys1734Thr) rs1204161988
NM_000038.6(APC):c.5645G>C (p.Arg1882Thr) rs34157245
NM_000038.6(APC):c.5761G>T (p.Gly1921Cys) rs1060503324
NM_000038.6(APC):c.592G>A (p.Val198Ile) rs1168791940
NM_000038.6(APC):c.6040G>A (p.Val2014Ile) rs143313902
NM_000038.6(APC):c.638G>A (p.Arg213Gln) rs1235428754
NM_000038.6(APC):c.6434G>T (p.Gly2145Val) rs1554087422
NM_000038.6(APC):c.7289A>C (p.Asp2430Ala) rs1554088226
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile) rs587778037
NM_000038.6(APC):c.811A>T (p.Met271Leu) rs587781464
NM_000038.6(APC):c.8181G>C (p.Gln2727His) rs756467505
NM_000038.6(APC):c.942G>T (p.Met314Ile) rs1350080370
NM_000041.2:c.[388T>C];[526C>T]
NM_000059.4(BRCA2):c.4037_4043delinsT (p.Thr1346_Cys1348delinsIle) rs276174841
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.9907A>T (p.Ser3303Cys) rs276174930
NM_000065.5(C6):c.878T>G (p.Ile293Ser) rs966341758
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.3609+1G>C rs754831666
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.744_745insTCCT (p.Gly249fs) rs1060499846
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000091.5(COL4A3):c.3251A>T (p.Glu1084Val) rs2072858880
NM_000091.5(COL4A3):c.4673T>C (p.Ile1558Thr) rs2073643599
NM_000091.5(COL4A3):c.568T>A (p.Phe190Ile) rs371173786
NM_000092.5(COL4A4):c.1459+2C>T rs932962404
NM_000092.5(COL4A4):c.1825C>G (p.Pro609Ala) rs1263397268
NM_000092.5(COL4A4):c.3761T>C (p.Ile1254Thr) rs1575916161
NM_000112.4(SLC26A2):c.2018A>G (p.Asp673Gly) rs774700553
NM_000116.5(TAFAZZIN):c.371-13C>G rs397515742
NM_000116.5(TAFAZZIN):c.752G>T (p.Arg251Leu) rs397515748
NM_000116.5(TAFAZZIN):c.778-24_778-7delinsA rs397515749
NM_000117.3(EMD):c.70G>A (p.Gly24Arg) rs727504628
NM_000117.3(EMD):c.711C>G (p.Ile237Met) rs727503037
NM_000117.3(EMD):c.77T>C (p.Val26Ala) rs727505029
NM_000121.4(EPOR):c.586-1G>A rs1968352260
NM_000138.5(FBN1):c.1036T>C (p.Ser346Pro) rs727504361
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.2519C>T (p.Pro840Leu) rs397515777
NM_000138.5(FBN1):c.2537T>C (p.Ile846Thr) rs876657809
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys) rs746834413
NM_000138.5(FBN1):c.2757A>G (p.Gly919=) rs397515780
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn) rs397515793
NM_000138.5(FBN1):c.3772C>T (p.Pro1258Ser) rs397515795
NM_000138.5(FBN1):c.415G>C (p.Gly139Arg) rs397515800
NM_000138.5(FBN1):c.4202C>A (p.Thr1401Asn) rs1555397648
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val) rs397515806
NM_000138.5(FBN1):c.4459+3A>T rs397515809
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4942+4A>G rs397515815
NM_000138.5(FBN1):c.5225-3C>A rs876657810
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp) rs397515824
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.5(FBN1):c.6690C>G (p.Cys2230Trp) rs727504931
NM_000138.5(FBN1):c.6746A>G (p.Asp2249Gly) rs397515838
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys) rs397515841
NM_000138.5(FBN1):c.6992G>A (p.Cys2331Tyr) rs397515842
NM_000138.5(FBN1):c.6997+4A>G rs727503055
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val) rs397515849
NM_000138.5(FBN1):c.7203A>G (p.Ala2401=) rs397515850
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7640G>T (p.Ser2547Ile) rs397515855
NM_000138.5(FBN1):c.7699+5del rs397515856
NM_000138.5(FBN1):c.7784G>T (p.Gly2595Val) rs397515857
NM_000138.5(FBN1):c.787A>G (p.Ile263Val) rs876657811
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr) rs111856492
NM_000138.5(FBN1):c.8362_8386delinsGA (p.Thr2788fs) rs397515862
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys) rs397515863
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.178C>A (p.Pro60Thr) rs727504689
NM_000169.3(GLA):c.485G>T (p.Trp162Leu) rs727504350
NM_000169.3(GLA):c.643A>C (p.Asn215His) rs727504794
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.724A>T (p.Ile242Phe) rs397515873
NM_000169.3(GLA):c.729G>C (p.Leu243Phe) rs397515874
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.797A>C (p.Asp266Ala) rs28935487
NM_000169.3(GLA):c.829T>G (p.Trp277Gly) rs727504372
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.3(MSH6):c.1048G>C (p.Ala350Pro) rs1425548621
NM_000179.3(MSH6):c.1885G>T (p.Asp629Tyr) rs1064795030
NM_000179.3(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met) rs63750442
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu) rs202066386
NM_000179.3(MSH6):c.3831C>A (p.Asp1277Glu) rs775752224
NM_000179.3(MSH6):c.4051_4055dup (p.Lys1352fs) rs1553334033
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?) rs575068534
NM_000179.3(MSH6):c.530A>T (p.Gln177Leu) rs1553411434
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079
NM_000179.3(MSH6):c.895A>G (p.Lys299Glu) rs1553412326
NM_000218.3(KCNQ1):c.1129-8G>A rs200612600
NM_000218.3(KCNQ1):c.1162G>A (p.Asp388Asn) rs537637760
NM_000218.3(KCNQ1):c.1196C>G (p.Ala399Gly) rs876657836
NM_000218.3(KCNQ1):c.1394-8C>A rs371488379
NM_000218.3(KCNQ1):c.1923del (p.Cys642fs) rs1590130358
NM_000218.3(KCNQ1):c.1926C>G (p.Cys642Trp) rs12720454
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.3(KCNQ1):c.285C>A (p.Ser95Arg) rs1589884451
NM_000218.3(KCNQ1):c.347G>A (p.Arg116His) rs727504506
NM_000219.3(KCNE1):c.(?_1)_(390_?)dup
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.292C>G (p.Arg98Gly) rs199473362
NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val) rs199472989
NM_000238.4(KCNH2):c.2398+105del rs546898924
NM_000238.4(KCNH2):c.2398+71del rs1060499871
NM_000238.4(KCNH2):c.2592+3G>A rs906562788
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala) rs199473009
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys) rs370687064
NM_000249.4(MLH1):c.1524T>G (p.Ser508Arg) rs886058383
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser) rs587781796
NM_000249.4(MLH1):c.379A>C (p.Arg127=) rs587779007
NM_000249.4(MLH1):c.457G>A (p.Glu153Lys) rs1553642660
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys) rs587779102
NM_000251.3(MSH2):c.1682_1685inv (p.Glu561_Glu562delinsValLeu)
NM_000251.3(MSH2):c.1765G>A (p.Val589Ile) rs1064793981
NM_000251.3(MSH2):c.2305T>C (p.Tyr769His) rs1114167859
NM_000251.3(MSH2):c.2354A>C (p.His785Pro) rs200252727
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.2782T>G (p.Ser928Ala) rs587781852
NM_000256.3(MYBPC3):c.*6_*16del rs727504359
NM_000256.3(MYBPC3):c.1091-18_1091-8del rs397515886
NM_000256.3(MYBPC3):c.1112C>G (p.Pro371Arg) rs397515887
NM_000256.3(MYBPC3):c.1188G>T (p.Trp396Cys) rs397515890
NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val) rs727503207
NM_000256.3(MYBPC3):c.1264A>C (p.Thr422Pro) rs727503206
NM_000256.3(MYBPC3):c.1358C>T (p.Pro453Leu) rs397515898
NM_000256.3(MYBPC3):c.1418T>C (p.Phe473Ser) rs397515900
NM_000256.3(MYBPC3):c.1422G>C (p.Glu474Asp) rs397515901
NM_000256.3(MYBPC3):c.1456T>G (p.Trp486Gly) rs397515902
NM_000256.3(MYBPC3):c.1457+5G>C rs727503202
NM_000256.3(MYBPC3):c.1457+6_1457+25del rs727503201
NM_000256.3(MYBPC3):c.1505G>T (p.Arg502Leu) rs397515907
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1535T>A (p.Leu512Gln) rs397515909
NM_000256.3(MYBPC3):c.1535T>C (p.Leu512Pro) rs397515909
NM_000256.3(MYBPC3):c.1586C>G (p.Thr529Ser) rs397515911
NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser) rs727504887
NM_000256.3(MYBPC3):c.1684G>A (p.Ala562Thr) rs397515919
NM_000256.3(MYBPC3):c.1790+5G>A rs727504489
NM_000256.3(MYBPC3):c.1808T>C (p.Ile603Thr) rs397515928
NM_000256.3(MYBPC3):c.1811ACG[1] (p.Asp605del) rs397515930
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) rs727503194
NM_000256.3(MYBPC3):c.1897+5G>A rs397515936
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.1950C>G (p.Asp650Glu) rs727504250
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His) rs1800565
NM_000256.3(MYBPC3):c.2148+6_2148+9del rs397515949
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) rs727503190
NM_000256.3(MYBPC3):c.2309-21G>A rs727505287
NM_000256.3(MYBPC3):c.2312T>C (p.Val771Ala) rs397515961
NM_000256.3(MYBPC3):c.239delinsGAGG (p.Ala80delinsGlyGly) rs727504335
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2436G>T (p.Lys812Asn) rs727504251
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2456T>C (p.Met819Thr) rs876657870
NM_000256.3(MYBPC3):c.25+3A>C rs397515968
NM_000256.3(MYBPC3):c.2512G>A (p.Glu838Lys) rs397515969
NM_000256.3(MYBPC3):c.2525A>G (p.Tyr842Cys) rs397515971
NM_000256.3(MYBPC3):c.2533C>T (p.Arg845Cys) rs727504345
NM_000256.3(MYBPC3):c.26-10G>A rs397515978
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2623C>T (p.His875Tyr) rs1555120949
NM_000256.3(MYBPC3):c.2839C>A (p.His947Asn) rs397515988
NM_000256.3(MYBPC3):c.2904G>C (p.Leu968=) rs747974933
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val) rs397515993
NM_000256.3(MYBPC3):c.2956A>G (p.Lys986Glu) rs876657871
NM_000256.3(MYBPC3):c.2963G>T (p.Gly988Val) rs727504942
NM_000256.3(MYBPC3):c.3065G>A (p.Arg1022His) rs397516000
NM_000256.3(MYBPC3):c.3083C>G (p.Thr1028Ser) rs397516002
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile) rs397516002
NM_000256.3(MYBPC3):c.3190G>A (p.Asp1064Asn) rs727505191
NM_000256.3(MYBPC3):c.3281A>T (p.Asn1094Ile) rs397516012
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.3469C>G (p.Pro1157Ala) rs727505286
NM_000256.3(MYBPC3):c.3548T>G (p.Phe1183Cys) rs397516024
NM_000256.3(MYBPC3):c.3677G>T (p.Arg1226Leu) rs397516034
NM_000256.3(MYBPC3):c.3683G>C (p.Arg1228Pro) rs528940575
NM_000256.3(MYBPC3):c.3709A>C (p.Thr1237Pro) rs727503168
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val) rs727504259
NM_000256.3(MYBPC3):c.3751T>C (p.Tyr1251His) rs730880601
NM_000256.3(MYBPC3):c.3764C>A (p.Ala1255Asp) rs727504722
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr) rs397514751
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr) rs397516041
NM_000256.3(MYBPC3):c.3797GCC[1] (p.Arg1267del) rs727504933
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile) rs397516045
NM_000256.3(MYBPC3):c.505+6T>G rs397516055
NM_000256.3(MYBPC3):c.518C>A (p.Thr173Asn) rs113941605
NM_000256.3(MYBPC3):c.532G>A (p.Val178Met) rs727503218
NM_000256.3(MYBPC3):c.566T>A (p.Val189Asp) rs397516060
NM_000256.3(MYBPC3):c.588G>C (p.Trp196Cys) rs727503215
NM_000256.3(MYBPC3):c.636C>G (p.Ser212Arg) rs397516062
NM_000256.3(MYBPC3):c.654+5G>A rs397516066
NM_000256.3(MYBPC3):c.821+3G>C rs727503213
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.841C>A (p.Arg281=) rs371711564
NM_000256.3(MYBPC3):c.852-10C>G rs750425291
NM_000256.3(MYBPC3):c.852-1G>T rs368121566
NM_000256.3(MYBPC3):c.853G>A (p.Asp285Asn) rs727504523
NM_000256.3(MYBPC3):c.926+1_926+5del rs1555122811
NM_000256.3(MYBPC3):c.926+4A>G rs397516081
NM_000256.3(MYBPC3):c.931T>A (p.Ser311Thr) rs397516084
NM_000256.3(MYBPC3):c.932C>T (p.Ser311Leu) rs193922386
NM_000257.4(MYH7):c.-7C>A rs876657890
NM_000257.4(MYH7):c.1003G>T (p.Ala335Ser) rs727503272
NM_000257.4(MYH7):c.1013T>C (p.Val338Ala) rs397516087
NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro) rs397516089
NM_000257.4(MYH7):c.1129G>A (p.Gly377Ser) rs773599095
NM_000257.4(MYH7):c.1132A>C (p.Thr378Pro) rs397516090
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) rs727504753
NM_000257.4(MYH7):c.1148A>G (p.Lys383Arg) rs397516092
NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu) rs727503268
NM_000257.4(MYH7):c.1180G>A (p.Asp394Asn) rs397516093
NM_000257.4(MYH7):c.1180G>C (p.Asp394His) rs397516093
NM_000257.4(MYH7):c.1204C>A (p.Pro402Thr) rs397516094
NM_000257.4(MYH7):c.1352A>C (p.Gln451Pro) rs397516100
NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser) rs121913625
NM_000257.4(MYH7):c.135G>T (p.Glu45Asp) rs397516102
NM_000257.4(MYH7):c.137T>G (p.Phe46Cys) rs397516104
NM_000257.4(MYH7):c.1402T>C (p.Phe468Leu) rs727504338
NM_000257.4(MYH7):c.1405G>T (p.Asp469Tyr) rs397516106
NM_000257.4(MYH7):c.1426C>G (p.Leu476Val) rs397516107
NM_000257.4(MYH7):c.1490A>G (p.Glu497Gly) rs727504296
NM_000257.4(MYH7):c.1496A>G (p.Glu499Gly) rs727504270
NM_000257.4(MYH7):c.1499A>C (p.Glu500Ala) rs727504286
NM_000257.4(MYH7):c.1504A>G (p.Lys502Glu) rs876657877
NM_000257.4(MYH7):c.1505_1516del (p.Lys502_Gly505del) rs727504828
NM_000257.4(MYH7):c.1514G>T (p.Gly505Val) rs397516109
NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr) rs397516110
NM_000257.4(MYH7):c.1541G>A (p.Gly514Asp) rs397516111
NM_000257.4(MYH7):c.1562T>C (p.Ile521Thr) rs727504328
NM_000257.4(MYH7):c.1570A>G (p.Ile524Val) rs727504401
NM_000257.4(MYH7):c.1597A>G (p.Ile533Val) rs397516113
NM_000257.4(MYH7):c.1598T>A (p.Ile533Asn) rs397516114
NM_000257.4(MYH7):c.1612T>C (p.Cys538Arg) rs397516116
NM_000257.4(MYH7):c.1640C>A (p.Thr547Asn) rs876657878
NM_000257.4(MYH7):c.167G>C (p.Gly56Ala) rs727504870
NM_000257.4(MYH7):c.1742A>G (p.His581Arg) rs397516120
NM_000257.4(MYH7):c.1759G>A (p.Asp587Asn) rs727504294
NM_000257.4(MYH7):c.1804A>G (p.Asn602Asp) rs727505332
NM_000257.4(MYH7):c.1822T>G (p.Leu608Val) rs1555338124
NM_000257.4(MYH7):c.1871A>G (p.Tyr624Cys) rs727504291
NM_000257.4(MYH7):c.1957-15C>A rs1555338036
NM_000257.4(MYH7):c.2093T>C (p.Val698Ala) rs397516130
NM_000257.4(MYH7):c.2101G>A (p.Gly701Ser) rs397516131
NM_000257.4(MYH7):c.2117G>C (p.Arg706Thr) rs397516133
NM_000257.4(MYH7):c.2123G>T (p.Gly708Val) rs397516134
NM_000257.4(MYH7):c.2129C>A (p.Pro710His) rs727504272
NM_000257.4(MYH7):c.2129C>T (p.Pro710Leu) rs727504272
NM_000257.4(MYH7):c.2147G>A (p.Gly716Glu) rs1555337912
NM_000257.4(MYH7):c.2171T>A (p.Ile724Asn) rs397516136
NM_000257.4(MYH7):c.2178C>A (p.Asn726Lys) rs397516137
NM_000257.4(MYH7):c.2191C>G (p.Pro731Ala) rs727504299
NM_000257.4(MYH7):c.2207T>A (p.Ile736Asn) rs727503261
NM_000257.4(MYH7):c.2217G>T (p.Arg739Ser) rs727504429
NM_000257.4(MYH7):c.2246T>A (p.Leu749Gln) rs727504320
NM_000257.4(MYH7):c.2285A>G (p.Lys762Arg) rs397516140
NM_000257.4(MYH7):c.2296A>C (p.Lys766Gln) rs397516141
NM_000257.4(MYH7):c.2342T>C (p.Leu781Pro) rs727503259
NM_000257.4(MYH7):c.2401T>A (p.Tyr801Asn) rs397516145
NM_000257.4(MYH7):c.2424-12G>T rs727503257
NM_000257.4(MYH7):c.2424-5T>C rs397516146
NM_000257.4(MYH7):c.2432T>C (p.Leu811Pro) rs727503256
NM_000257.4(MYH7):c.2462T>C (p.Phe821Ser) rs397516148
NM_000257.4(MYH7):c.2470G>C (p.Val824Leu) rs397516149
NM_000257.4(MYH7):c.2480G>T (p.Trp827Leu) rs542565151
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His) rs730880746
NM_000257.4(MYH7):c.2498A>G (p.Tyr833Cys) rs727504546
NM_000257.4(MYH7):c.2504A>T (p.Lys835Met) rs876657880
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn) rs397516154
NM_000257.4(MYH7):c.2537A>G (p.Glu846Gly) rs876657881
NM_000257.4(MYH7):c.2544G>C (p.Glu848Asp) rs730880899
NM_000257.4(MYH7):c.2548G>A (p.Ala850Thr) rs1060499880
NM_000257.4(MYH7):c.2572C>A (p.Arg858Ser) rs2754158
NM_000257.4(MYH7):c.2572C>G (p.Arg858Gly) rs2754158
NM_000257.4(MYH7):c.2620GAG[1] (p.Glu875del) rs397516159
NM_000257.4(MYH7):c.2624AGA[1] (p.Lys876del) rs727504368
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu) rs727503254
NM_000257.4(MYH7):c.2683C>G (p.Gln895Glu) rs397516162
NM_000257.4(MYH7):c.2692C>G (p.Leu898Val) rs727504407
NM_000257.4(MYH7):c.2699A>G (p.Asp900Gly) rs397516163
NM_000257.4(MYH7):c.2704G>A (p.Glu902Lys) rs869130333
NM_000257.4(MYH7):c.2708A>G (p.Glu903Gly) rs727504261
NM_000257.4(MYH7):c.2716G>A (p.Asp906Asn) rs397516164
NM_000257.4(MYH7):c.2719C>A (p.Gln907Lys) rs397516167
NM_000257.4(MYH7):c.2725A>G (p.Ile909Val) rs397516168
NM_000257.4(MYH7):c.2742G>T (p.Gln914His) rs727504404
NM_000257.4(MYH7):c.2746G>A (p.Glu916Lys) rs397516169
NM_000257.4(MYH7):c.2783A>C (p.Asp928Ala) rs727504558
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) rs121913629
NM_000257.4(MYH7):c.2882T>C (p.Leu961Pro) rs727504374
NM_000257.4(MYH7):c.28G>A (p.Gly10Arg) rs199577321
NM_000257.4(MYH7):c.293A>T (p.Glu98Val) rs727503279
NM_000257.4(MYH7):c.298G>A (p.Ala100Thr) rs730880154
NM_000257.4(MYH7):c.299C>T (p.Ala100Val) rs876657882
NM_000257.4(MYH7):c.3055A>G (p.Thr1019Ala) rs200714763
NM_000257.4(MYH7):c.3083A>G (p.Glu1028Gly) rs397516177
NM_000257.4(MYH7):c.3235C>G (p.Arg1079Gly) rs192722540
NM_000257.4(MYH7):c.3336+3G>A rs397516180
NM_000257.4(MYH7):c.3370G>T (p.Ala1124Ser) rs1041961
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr) rs730880833
NM_000257.4(MYH7):c.3591_3592delinsAAGAAGC (p.Asp1198fs) rs876657883
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.4(MYH7):c.3626A>G (p.Asn1209Ser) rs397516189
NM_000257.4(MYH7):c.3664A>G (p.Ser1222Gly) rs727504647
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3880_3882del (p.Lys1294del) rs1555336976
NM_000257.4(MYH7):c.3908G>A (p.Arg1303Gln) rs727505325
NM_000257.4(MYH7):c.3967G>A (p.Val1323Ile) rs727503247
NM_000257.4(MYH7):c.3973-2A>T rs397516197
NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp) rs727504352
NM_000257.4(MYH7):c.4036C>G (p.Gln1346Glu) rs730880787
NM_000257.4(MYH7):c.4075C>A (p.Arg1359Ser) rs45451303
NM_000257.4(MYH7):c.4136C>A (p.Ala1379Asp) rs397516203
NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe) rs727504703
NM_000257.4(MYH7):c.4204G>A (p.Glu1402Lys) rs727505025
NM_000257.4(MYH7):c.4208C>A (p.Ala1403Asp) rs397516204
NM_000257.4(MYH7):c.4256A>G (p.His1419Arg) rs397516206
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.431G>A (p.Gly144Asp) rs730880834
NM_000257.4(MYH7):c.4330A>G (p.Lys1444Glu) rs397516210
NM_000257.4(MYH7):c.4354-2A>C rs727504734
NM_000257.4(MYH7):c.4354-7C>T rs370093487
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.4(MYH7):c.4402G>C (p.Glu1468Gln) rs876657884
NM_000257.4(MYH7):c.4408T>C (p.Ser1470Pro) rs397516215
NM_000257.4(MYH7):c.4411C>T (p.Gln1471Ter) rs397516216
NM_000257.4(MYH7):c.4436C>T (p.Thr1479Ile) rs397516217
NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp) rs730880911
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) rs730880837
NM_000257.4(MYH7):c.4537A>T (p.Thr1513Ser) rs397516222
NM_000257.4(MYH7):c.4540G>A (p.Glu1514Lys) rs397516223
NM_000257.4(MYH7):c.4663G>C (p.Glu1555Gln) rs727505176
NM_000257.4(MYH7):c.4720C>T (p.Arg1574Trp) rs397516227
NM_000257.4(MYH7):c.4834C>G (p.Leu1612Val) rs397516229
NM_000257.4(MYH7):c.4838G>A (p.Arg1613Lys) rs397516230
NM_000257.4(MYH7):c.487C>T (p.Gln163Ter) rs727505011
NM_000257.4(MYH7):c.4900C>T (p.Arg1634Cys) rs397516232
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His) rs370328209
NM_000257.4(MYH7):c.5015_5020del (p.Ala1672_Ile1673del) rs397516234
NM_000257.4(MYH7):c.5067_5079delinsGGCCGTGGAAGAA (p.Val1692Glu) rs727505033
NM_000257.4(MYH7):c.5110C>T (p.Gln1704Ter) rs727504844
NM_000257.4(MYH7):c.5156A>G (p.Gln1719Arg) rs727504403
NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val) rs397516240
NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys) rs397516241
NM_000257.4(MYH7):c.5302_5303delinsAT (p.Glu1768Met) rs876657886
NM_000257.4(MYH7):c.531-3_531del rs397516242
NM_000257.4(MYH7):c.5332C>T (p.His1778Tyr) rs397516244
NM_000257.4(MYH7):c.5344A>G (p.Met1782Val) rs727504385
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu) rs397516247
NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val) rs730880817
NM_000257.4(MYH7):c.5469_5471delinsATG (p.Asn1824Cys) rs1060499881
NM_000257.4(MYH7):c.560A>G (p.Asn187Ser) rs397516249
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His) rs727503240
NM_000257.4(MYH7):c.5696T>C (p.Val1899Ala) rs727504384
NM_000257.4(MYH7):c.5762G>C (p.Arg1921Pro) rs397516256
NM_000257.4(MYH7):c.610C>A (p.Arg204Ser) rs397516259
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.671A>C (p.Asn224Thr) rs727505148
NM_000257.4(MYH7):c.677C>T (p.Ala226Val) rs876657887
NM_000257.4(MYH7):c.686C>T (p.Ala229Val) rs876657888
NM_000257.4(MYH7):c.698C>T (p.Ala233Val) rs727504362
NM_000257.4(MYH7):c.703A>G (p.Thr235Ala) rs876657889
NM_000257.4(MYH7):c.707T>C (p.Val236Ala) rs397516262
NM_000257.4(MYH7):c.710G>A (p.Arg237Gln) rs397516263
NM_000257.4(MYH7):c.725C>G (p.Ser242Cys) rs730880921
NM_000257.4(MYH7):c.732+1del rs397516266
NM_000257.4(MYH7):c.734G>A (p.Gly245Glu) rs397516267
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.742A>T (p.Ile248Phe) rs727503275
NM_000257.4(MYH7):c.748A>G (p.Ile250Val) rs397516268
NM_000257.4(MYH7):c.755T>C (p.Phe252Ser) rs727505202
NM_000257.4(MYH7):c.830T>C (p.Leu277Pro) rs727504297
NM_000257.4(MYH7):c.835G>A (p.Ala279Thr) rs397516270
NM_000257.4(MYH7):c.844G>T (p.Asp282Tyr) rs397516271
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys) rs727503274
NM_000257.4(MYH7):c.854T>C (p.Ile285Thr) rs1555338574
NM_000257.4(MYH7):c.859T>C (p.Tyr287His) rs727503273
NM_000257.4(MYH7):c.872C>T (p.Ser291Phe) rs397516272
NM_000257.4(MYH7):c.920C>T (p.Pro307Leu) rs397516273
NM_000257.4(MYH7):c.953C>A (p.Thr318Asn) rs397516274
NM_000257.4(MYH7):c.968T>A (p.Ile323Asn) rs397516275
NM_000257.4(MYH7):c.991G>C (p.Ala331Pro) rs397516276
NM_000258.3(MYL3):c.11A>G (p.Lys4Arg) rs727503301
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.338C>T (p.Thr113Ile) rs397516278
NM_000258.3(MYL3):c.446T>C (p.Met149Thr) rs202141423
NM_000258.3(MYL3):c.452C>T (p.Ala151Val) rs876657895
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000258.3(MYL3):c.482-1G>A rs727503300
NM_000258.3(MYL3):c.520G>C (p.Ala174Pro) rs397516279
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val) rs782728522
NM_000260.4(MYO7A):c.1133G>C (p.Arg378Pro) rs397516282
NM_000260.4(MYO7A):c.1374T>G (p.Asn458Lys) rs782293740
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) rs397516286
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro) rs397516287
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) rs782311929
NM_000260.4(MYO7A):c.1903T>C (p.Cys635Arg) rs797044514
NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser) rs387906699
NM_000260.4(MYO7A):c.2039A>G (p.Glu680Gly) rs1555079057
NM_000260.4(MYO7A):c.2248C>T (p.Leu750Phe) rs1224881006
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) rs797044493
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) rs397516296
NM_000260.4(MYO7A):c.2636A>C (p.Lys879Thr) rs1591374351
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu) rs565162134
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu) rs397516298
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg) rs111033195
NM_000260.4(MYO7A):c.3656G>T (p.Gly1219Val) rs1555090958
NM_000260.4(MYO7A):c.4084G>A (p.Val1362Met) rs774773009
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4171C>G (p.Leu1391Val) rs727504594
NM_000260.4(MYO7A):c.4732G>A (p.Asp1578Asn) rs778007315
NM_000260.4(MYO7A):c.4927G>A (p.Val1643Ile) rs1591467534
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr) rs762131185
NM_000260.4(MYO7A):c.5486_5487delinsTT (p.Ser1829Ile) rs1957384051
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.5497G>C (p.Gly1833Arg) rs1367496020
NM_000260.4(MYO7A):c.5504A>G (p.Glu1835Gly) rs727503331
NM_000260.4(MYO7A):c.5600C>T (p.Ala1867Val) rs876657914
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr) rs397516325
NM_000260.4(MYO7A):c.6243C>A (p.Ile2081=) rs727504834
NM_000260.4(MYO7A):c.6356A>C (p.Gln2119Pro) rs1029122324
NM_000260.4(MYO7A):c.6475A>G (p.Asn2159Asp) rs1555111106
NM_000260.4(MYO7A):c.652G>C (p.Asp218His) rs201539845
NM_000260.4(MYO7A):c.6577C>T (p.Leu2193Phe) rs397516333
NM_000262.3(NAGA):c.1097_1098del (p.Ile365_Tyr366insTer) rs1602490557
NM_000271.5(NPC1):c.198CTT[1] (p.Phe68del) rs1555641909
NM_000278.5(PAX2):c.44-12_44-8dup rs1845364215
NM_000307.5(POU3F4):c.924CTC[1] (p.Ser310del) rs111033340
NM_000307.5(POU3F4):c.964G>A (p.Val322Met) rs111033291
NM_000307.5(POU3F4):c.967C>T (p.Arg323Cys) rs104894924
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000335.5(SCN5A):c.1050C>G (p.His350Gln) rs587781160
NM_000335.5(SCN5A):c.1237G>T (p.Ala413Ser) rs199473110
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val) rs36210423
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr) rs756474485
NM_000335.5(SCN5A):c.2240A>C (p.Glu747Ala) rs747324991
NM_000335.5(SCN5A):c.2647G>A (p.Asp883Asn) rs727505351
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.5(SCN5A):c.2894G>A (p.Arg965His) rs199473181
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.3229-13G>A rs1575757490
NM_000335.5(SCN5A):c.3844C>A (p.Leu1282Met) rs199473216
NM_000335.5(SCN5A):c.4296+6T>A rs794728934
NM_000335.5(SCN5A):c.4348G>C (p.Val1450Leu) rs876657996
NM_000335.5(SCN5A):c.4464G>T (p.Glu1488Asp) rs199473616
NM_000335.5(SCN5A):c.5006T>C (p.Ile1669Thr) rs397517955
NM_000335.5(SCN5A):c.703+6A>G rs781104838
NM_000337.6(SGCD):c.383-11A>T rs727504584
NM_000337.6(SGCD):c.839C>A (p.Ser280Tyr) rs397516337
NM_000363.5(TNNI3):c.109-15A>G rs779144176
NM_000363.5(TNNI3):c.127G>T (p.Ala43Ser) rs727505023
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.258del (p.Leu88fs) rs727503507
NM_000363.5(TNNI3):c.401A>G (p.Asp134Gly) rs727503505
NM_000363.5(TNNI3):c.462G>A (p.Met154Ile) rs397516350
NM_000363.5(TNNI3):c.488C>T (p.Ala163Val) rs727504367
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) rs727503504
NM_000363.5(TNNI3):c.525G>C (p.Gln175His) rs727503502
NM_000363.5(TNNI3):c.526G>A (p.Val176Met) rs727503501
NM_000363.5(TNNI3):c.538del (p.Asp180fs) rs876658023
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly) rs1060499912
NM_000363.5(TNNI3):c.559G>A (p.Glu187Lys) rs727505069
NM_000363.5(TNNI3):c.579G>C (p.Lys193Asn) rs397516358
NM_000363.5(TNNI3):c.583A>C (p.Ile195Leu) rs876658024
NM_000363.5(TNNI3):c.586G>T (p.Asp196Tyr) rs104894727
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) rs397516359
NM_000363.5(TNNI3):c.613A>C (p.Lys205Gln) rs727505331
NM_000363.5(TNNI3):c.622T>A (p.Phe208Ile) rs876658025
NM_000363.5(TNNI3):c.624T>G (p.Phe208Leu) rs876658026
NM_000363.5(TNNI3):c.625G>A (p.Glu209Lys) rs727504268
NM_000363.5(TNNI3):c.65G>A (p.Arg22His) rs397516360
NM_000363.5(TNNI3):c.79C>G (p.Arg27Gly) rs1555864366
NM_000363.5(TNNI3):c.85T>G (p.Tyr29Asp) rs727503510
NM_000371.4(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000384.3(APOB):c.10556C>T (p.Thr3519Ile) rs746951119
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000395.3(CSF2RB):c.2124del (p.Ser709fs) rs568607741
NM_000414.4(HSD17B4):c.1126A>G (p.Thr376Ala) rs1750955154
NM_000414.4(HSD17B4):c.643C>T (p.Pro215Ser) rs552078818
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) rs727503299
NM_000432.4(MYL2):c.119G>T (p.Arg40Met) rs727503299
NM_000432.4(MYL2):c.142G>T (p.Asp48Tyr) rs727504405
NM_000432.4(MYL2):c.275G>T (p.Gly92Val) rs727503297
NM_000432.4(MYL2):c.313G>A (p.Val105Met) rs397516401
NM_000432.4(MYL2):c.358C>T (p.Arg120Trp) rs397516404
NM_000432.4(MYL2):c.389T>G (p.Phe130Cys) rs727505071
NM_000432.4(MYL2):c.392C>G (p.Ser131Cys) rs727504357
NM_000432.4(MYL2):c.402G>C (p.Glu134Asp) rs727504408
NM_000432.4(MYL2):c.403-1G>T rs199474813
NM_000432.4(MYL2):c.421G>A (p.Ala141Thr) rs727504559
NM_000432.4(MYL2):c.45_46delinsT (p.Asn16fs) rs727504300
NM_000432.4(MYL2):c.4G>A (p.Ala2Thr) rs1060499882
NM_000432.4(MYL2):c.82G>A (p.Glu28Lys) rs397516409
NM_000432.4(MYL2):c.84A>T (p.Glu28Asp) rs397516410
NM_000441.2(SLC26A4):c.1002-12A>G rs1554358492
NM_000441.2(SLC26A4):c.1253G>A (p.Gly418Glu) rs727505087
NM_000441.2(SLC26A4):c.1283C>T (p.Ala428Val) rs727504824
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1570A>C (p.Ile524Leu) rs1163642957
NM_000441.2(SLC26A4):c.1592A>C (p.Lys531Thr) rs111033191
NM_000441.2(SLC26A4):c.1698C>G (p.Ile566Met) rs111033375
NM_000441.2(SLC26A4):c.1920G>C (p.Trp640Cys) rs368119540
NM_000441.2(SLC26A4):c.1969A>T (p.Ser657Cys) rs876658003
NM_000441.2(SLC26A4):c.2063T>C (p.Val688Ala) rs727503429
NM_000441.2(SLC26A4):c.2090A>C (p.Asp697Ala) rs111033443
NM_000441.2(SLC26A4):c.209C>T (p.Pro70Leu) rs111033413
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn) rs145805875
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys) rs764791809
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly) rs111033344
NM_000441.2(SLC26A4):c.521C>G (p.Thr174Ser) rs876658004
NM_000455.5(STK11):c.1258G>A (p.Ala420Thr) rs762482152
NM_000455.5(STK11):c.143A>G (p.Lys48Arg) rs766776431
NM_000455.5(STK11):c.838_839delinsGT (p.Pro280Val) rs786205863
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn) rs150683293
NM_000501.4(ELN):c.1415-9A>G rs727503032
NM_000501.4(ELN):c.469+5G>C rs727503025
NM_000501.4(ELN):c.685+1_685+5dup rs876657806
NM_000503.6(EYA1):c.1186G>A (p.Gly396Arg) rs727503047
NM_000503.6(EYA1):c.1295G>A (p.Arg432Lys) rs727503046
NM_000503.6(EYA1):c.1360+2C>T rs727503045
NM_000503.6(EYA1):c.1402A>G (p.Arg468Gly) rs727503044
NM_000503.6(EYA1):c.470C>T (p.Ser157Leu) rs1586333305
NM_000503.6(EYA1):c.647C>G (p.Pro216Arg) rs200923204
NM_000503.6(EYA1):c.88A>G (p.Ile30Val) rs1554565600
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.5(LDLR):c.370C>T (p.Arg124Trp) rs879254498
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000535.7(PMS2):c.1304A>C (p.His435Pro) rs1554297915
NM_000535.7(PMS2):c.1378G>C (p.Gly460Arg) rs1554297825
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu) rs1554295980
NM_000535.7(PMS2):c.2219T>C (p.Ile740Thr) rs1554294462
NM_000535.7(PMS2):c.896C>T (p.Pro299Leu) rs1402108044
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys) rs587781358
NM_000540.3(RYR1):c.4411G>T (p.Val1471Leu) rs767558988
NM_000540.3(RYR1):c.8156A>T (p.Tyr2719Phe) rs1555785252
NM_000540.3(RYR1):c.957+5_957+29del rs794726982
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000545.8(HNF1A):c.539C>T (p.Ala180Val) rs1060499866
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.718_741del (p.Ser240_Asn247del) rs397516437
NM_000546.6(TP53):c.758C>A (p.Thr253Asn) rs1555525465
NM_000546.6(TP53):c.85AAC[1] (p.Asn30del) rs587782270
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.3002G>A (p.Gly1001Glu) rs368878445
NM_000548.5(TSC2):c.593T>C (p.Met198Thr) rs45517114
NM_000551.4(VHL):c.-61_-51dup rs727503743
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000601.6(HGF):c.1454T>C (p.Ile485Thr) rs397516446
NM_000601.6(HGF):c.754G>C (p.Asp252His) rs752123971
NM_000601.6(HGF):c.983G>T (p.Arg328Leu) rs374484762
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) rs771708175
NM_000888.5(ITGB6):c.676del (p.Ile226fs) rs1179156887
NM_000899.5(KITLG):c.15+2T>A rs1592593751
NM_001004334.4(GPR179):c.3138_3139del (p.Glu1046fs) rs776189685
NM_001005242.3(PKP2):c.1034+4del rs397516983
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1170+4_1170+7del rs397516988
NM_001005242.3(PKP2):c.1379-2049A>G rs727505257
NM_001005242.3(PKP2):c.1448T>C (p.Leu483Pro) rs397517000
NM_001005242.3(PKP2):c.159C>A (p.Ser53Arg) rs770694213
NM_001005242.3(PKP2):c.1648A>G (p.Ile550Val) rs727503371
NM_001005242.3(PKP2):c.1993C>T (p.Leu665Phe) rs397517018
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met) rs397517016
NM_001005242.3(PKP2):c.214G>T (p.Val72Leu) rs397517019
NM_001005242.3(PKP2):c.2228T>G (p.Leu743Arg) rs145553222
NM_001005242.3(PKP2):c.2422G>A (p.Glu808Lys) rs727505312
NM_001005242.3(PKP2):c.2445+1G>A rs1060499891
NM_001005242.3(PKP2):c.2446-10dup rs397517024
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467
NM_001005242.3(PKP2):c.811G>A (p.Val271Ile) rs876657953
NM_001006630.2(CHRM2):c.52_54del (p.Tyr18del) rs876657763
NM_001006630.2(CHRM2):c.794C>T (p.Ala265Val) rs1554437349
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001015878.2(AURKC):c.94_101dup (p.Met35fs) rs749123022
NM_001018005.2(TPM1):c.*5_*8del rs786204415
NM_001018005.2(TPM1):c.14AGA[4] (p.Lys7dup) rs730881155
NM_001018005.2(TPM1):c.240+1G>A rs730881146
NM_001018005.2(TPM1):c.240+4426G>T rs1060499913
NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu) rs369617788
NM_001018005.2(TPM1):c.2del (p.Met1fs) rs397516366
NM_001018005.2(TPM1):c.305C>A (p.Ala102Asp) rs397516367
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys) rs727504313
NM_001018005.2(TPM1):c.364G>A (p.Glu122Lys) rs876658031
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.424G>A (p.Glu142Lys) rs1555408649
NM_001018005.2(TPM1):c.458A>G (p.His153Arg) rs727505043
NM_001018005.2(TPM1):c.45G>T (p.Lys15Asn) rs199476301
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001018005.2(TPM1):c.563+249C>T rs397516379
NM_001018005.2(TPM1):c.563+254A>G rs397516380
NM_001018005.2(TPM1):c.563+308A>C rs1555409301
NM_001018005.2(TPM1):c.563_563+1insCCAA rs1060499914
NM_001018005.2(TPM1):c.58G>A (p.Asp20Asn) rs727504391
NM_001018005.2(TPM1):c.632C>G (p.Ala211Gly) rs397516487
NM_001018005.2(TPM1):c.676A>C (p.Lys226Gln) rs397516383
NM_001018005.2(TPM1):c.692A>G (p.Lys231Arg) rs397516385
NM_001018005.2(TPM1):c.712C>T (p.Arg238Trp) rs397516386
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001018005.2(TPM1):c.734C>T (p.Ser245Leu) rs397516388
NM_001018005.2(TPM1):c.762T>G (p.Asp254Glu) rs727504354
NM_001018005.2(TPM1):c.775G>A (p.Glu259Lys) rs397516389
NM_001018005.2(TPM1):c.790A>G (p.Lys264Glu) rs397516390
NM_001018005.2(TPM1):c.802A>G (p.Lys268Glu) rs1555410433
NM_001018005.2(TPM1):c.815A>C (p.Glu272Ala) rs727503519
NM_001018005.2(TPM1):c.830C>G (p.Ala277Gly) rs199476320
NM_001018005.2(TPM1):c.835A>C (p.Asn279His) rs397516392
NM_001018005.2(TPM1):c.851+15A>G rs876658030
NM_001018005.2(TPM1):c.97G>A (p.Glu33Lys) rs397516397
NM_001018116.2(CAVIN4):c.168G>C (p.Glu56Asp) rs947295697
NM_001031679.3(MSRB3):c.310G>A (p.Asp104Asn) rs727503162
NM_001032283.3(TMPO):c.565+2296C>T rs397516843
NM_001032283.3(TMPO):c.565+2461_565+2463del rs727503491
NM_001032283.3(TMPO):c.77C>T (p.Thr26Met) rs397516494
NM_001032283.3(TMPO):c.991-14_991-11del rs397516495
NM_001034853.2(RPGR):c.2254del (p.Glu752fs) rs1060499897
NM_001034853.2(RPGR):c.2956_2957insA (p.Gly986fs) rs1060499896
NM_001035.2(RYR2):c.(?_49)_(168_?)del
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.10127T>A (p.Phe3376Tyr) rs876657983
NM_001035.3(RYR2):c.10325C>T (p.Ala3442Val) rs727503403
NM_001035.3(RYR2):c.10427T>C (p.Ile3476Thr) rs764621718
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.11217G>T (p.Met3739Ile) rs397516502
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser) rs397516504
NM_001035.3(RYR2):c.11457G>A (p.Met3819Ile) rs727503405
NM_001035.3(RYR2):c.1197G>A (p.Met399Ile) rs727503397
NM_001035.3(RYR2):c.12139G>C (p.Asp4047His) rs727505103
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13541A>G (p.Asn4514Ser) rs397516511
NM_001035.3(RYR2):c.14122T>G (p.Trp4708Gly) rs397516513
NM_001035.3(RYR2):c.14440A>G (p.Met4814Val) rs397516516
NM_001035.3(RYR2):c.14464C>G (p.Arg4822Gly) rs876657986
NM_001035.3(RYR2):c.14591-9del rs876657987
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.1837G>A (p.Val613Ile) rs397516520
NM_001035.3(RYR2):c.2334G>A (p.Met778Ile) rs397516521
NM_001035.3(RYR2):c.2716C>G (p.Pro906Ala) rs754520058
NM_001035.3(RYR2):c.2805G>A (p.Met935Ile) rs727505044
NM_001035.3(RYR2):c.281A>T (p.Asp94Val) rs876657989
NM_001035.3(RYR2):c.2881G>T (p.Val961Leu) rs876657990
NM_001035.3(RYR2):c.308A>C (p.Lys103Thr) rs727505209
NM_001035.3(RYR2):c.3128A>G (p.Lys1043Arg) rs727504939
NM_001035.3(RYR2):c.3596A>G (p.Asp1199Gly) rs149760466
NM_001035.3(RYR2):c.3656A>C (p.Lys1219Thr) rs727505149
NM_001035.3(RYR2):c.4240C>T (p.Arg1414Trp) rs868750680
NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe) rs749434532
NM_001035.3(RYR2):c.5005A>G (p.Asn1669Asp) rs397516538
NM_001035.3(RYR2):c.5485C>G (p.Leu1829Val) rs876657991
NM_001035.3(RYR2):c.5543C>T (p.Pro1848Leu) rs397516543
NM_001035.3(RYR2):c.5609T>G (p.Val1870Gly) rs1553522588
NM_001035.3(RYR2):c.5639A>T (p.Glu1880Val) rs727504792
NM_001035.3(RYR2):c.570G>T (p.Arg190Ser) rs397516544
NM_001035.3(RYR2):c.6250A>G (p.Met2084Val) rs1553531464
NM_001035.3(RYR2):c.6380G>A (p.Arg2127Gln) rs397516547
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu) rs727503401
NM_001035.3(RYR2):c.7513-8T>G rs727503402
NM_001035.3(RYR2):c.7808C>T (p.Ala2603Val) rs752607318
NM_001035.3(RYR2):c.8209-7_8209-4del rs876657992
NM_001035.3(RYR2):c.8342C>G (p.Thr2781Ser) rs369963696
NM_001035.3(RYR2):c.8426A>C (p.Gln2809Pro) rs397516551
NM_001035.3(RYR2):c.9129-10T>A rs876657993
NM_001035.3(RYR2):c.998C>T (p.Ser333Phe) rs397516552
NM_001037.5(SCN1B):c.448+129G>T rs1060499899
NM_001037.5(SCN1B):c.67del (p.Glu23fs) rs1060499898
NM_001038603.3(MARVELD2):c.1286C>T (p.Pro429Leu) rs1554047535
NM_001038603.3(MARVELD2):c.919G>A (p.Ala307Thr) rs779068129
NM_001039141.3(TRIOBP):c.111C>G (p.Tyr37Ter) rs876658035
NM_001039141.3(TRIOBP):c.202A>T (p.Thr68Ser) rs200529550
NM_001039141.3(TRIOBP):c.3948G>A (p.Arg1316=) rs876658036
NM_001039141.3(TRIOBP):c.4703C>G (p.Ala1568Gly) rs569914227
NM_001039141.3(TRIOBP):c.5117A>G (p.Glu1706Gly) rs727503522
NM_001039141.3(TRIOBP):c.5193G>C (p.Lys1731Asn) rs1207596715
NM_001039141.3(TRIOBP):c.5890C>G (p.Arg1964Gly) rs565618931
NM_001039141.3(TRIOBP):c.5936T>C (p.Leu1979Pro) rs727503524
NM_001039141.3(TRIOBP):c.6205G>A (p.Glu2069Lys) rs777449279
NM_001039141.3(TRIOBP):c.6324+214G>A rs1601661052
NM_001039213.4(CEACAM16):c.35G>A (p.Ser12Asn) rs1040792995
NM_001039213.4(CEACAM16):c.626T>A (p.Val209Asp) rs876657762
NM_001039876.3(SYNE4):c.1025A>G (p.Asn342Ser) rs200948076
NM_001042492.3(NF1):c.239A>C (p.Tyr80Ser) rs4795581
NM_001042492.3(NF1):c.2410-12T>C rs876657932
NM_001042492.3(NF1):c.4624C>G (p.Leu1542Val) rs1555619011
NM_001042492.3(NF1):c.4835G>T (p.Arg1612Met) rs1555619423
NM_001042492.3(NF1):c.5481C>G (p.Ile1827Met) rs1555533607
NM_001042492.3(NF1):c.6161T>A (p.Met2054Lys) rs1555534665
NM_001042492.3(NF1):c.6617C>T (p.Thr2206Ile) rs1555534885
NM_001042492.3(NF1):c.6921+10G>A rs767166725
NM_001042492.3(NF1):c.7988C>T (p.Ser2663Phe) rs786202579
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg) rs876657933
NM_001042492.3(NF1):c.839T>C (p.Ile280Thr) rs1555608976
NM_001042545.2(LTBP4):c.1427-13C>G rs727505005
NM_001042545.2(LTBP4):c.4018C>T (p.Pro1340Ser) rs370767377
NM_001042545.2(LTBP4):c.4441T>C (p.Cys1481Arg) rs876657866
NM_001042545.2(LTBP4):c.56_67dup (p.Leu19_Gln22dup) rs1220133830
NM_001042702.5(PJVK):c.1A>G (p.Met1Val) rs1697832820
NM_001042702.5(PJVK):c.478A>G (p.Met160Val) rs757161569
NM_001042702.5(PJVK):c.683C>T (p.Ser228Leu) rs727504604
NM_001042702.5(PJVK):c.983G>A (p.Cys328Tyr) rs727504487
NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe) rs763862261
NM_001048174.2(MUTYH):c.115+2_115+3dup rs1553131287
NM_001048174.2(MUTYH):c.203T>A (p.Phe68Tyr) rs750954949
NM_001048174.2(MUTYH):c.524G>C (p.Arg175Pro) rs538383136
NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala) rs587782351
NM_001048174.2(MUTYH):c.827G>A (p.Ser276Asn) rs1553127574
NM_001048174.2(MUTYH):c.901G>T (p.Val301Leu) rs147718169
NM_001079.4(ZAP70):c.1409T>G (p.Val470Gly) rs1060499918
NM_001079668.3(NKX2-1):c.584G>A (p.Arg195Gln) rs1555349228
NM_001079866.2(BCS1L):c.373G>A (p.Asp125Asn) rs1553596645
NM_001080476.3(GRXCR1):c.58A>G (p.Ile20Val) rs1746274698
NM_001080476.3(GRXCR1):c.785G>T (p.Arg262Leu) rs146696590
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro) rs121909185
NM_001099404.2(SCN5A):c.615T>A (p.Tyr205Ter) rs765669597
NM_001101648.2(NPC1L1):c.3086T>A (p.Leu1029Gln) rs1060499885
NM_001103.4(ACTN2):c.1108-10A>G rs397516564
NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val) rs566860712
NM_001103.4(ACTN2):c.1361A>C (p.His454Pro) rs727505063
NM_001103.4(ACTN2):c.1381A>G (p.Ile461Val) rs876657742
NM_001103.4(ACTN2):c.1411C>G (p.Leu471Val) rs397516568
NM_001103.4(ACTN2):c.1460G>T (p.Cys487Phe) rs727504619
NM_001103.4(ACTN2):c.1593G>A (p.Trp531Ter) rs397516570
NM_001103.4(ACTN2):c.1839+5G>C rs797045081
NM_001103.4(ACTN2):c.1975-6C>A rs201255023
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu) rs397516577
NM_001103.4(ACTN2):c.343G>A (p.Val115Met) rs397516579
NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr) rs727505146
NM_001103.4(ACTN2):c.578_583del (p.191HR[1]) rs397516581
NM_001103.4(ACTN2):c.655G>A (p.Ala219Thr) rs1246542277
NM_001103.4(ACTN2):c.736A>G (p.Met246Val) rs397516582
NM_001103.4(ACTN2):c.826A>G (p.Asn276Asp) rs876657743
NM_001103.4(ACTN2):c.829C>G (p.Gln277Glu) rs1553302181
NM_001105206.3(LAMA4):c.1551+5A>G rs1554342189
NM_001105206.3(LAMA4):c.1922C>G (p.Ala641Gly) rs397516718
NM_001105206.3(LAMA4):c.195+4_195+5del rs397516719
NM_001105206.3(LAMA4):c.2640G>T (p.Gln880His) rs397516725
NM_001105206.3(LAMA4):c.2758G>A (p.Asp920Asn) rs727503112
NM_001105206.3(LAMA4):c.3434A>G (p.Asn1145Ser) rs377528058
NM_001105206.3(LAMA4):c.3515A>G (p.Asp1172Gly) rs1554330855
NM_001105206.3(LAMA4):c.4446T>G (p.Phe1482Leu) rs397516730
NM_001105206.3(LAMA4):c.4455A>C (p.Leu1485Phe) rs1554326282
NM_001105206.3(LAMA4):c.4683_4684del (p.Arg1562fs) rs1554325284
NM_001105206.3(LAMA4):c.4696C>T (p.Arg1566Ter) rs1554325261
NM_001105206.3(LAMA4):c.5267G>A (p.Gly1756Glu) rs782244308
NM_001110219.3(GJB6):c.60_61delinsT (p.Lys22fs) rs397517206
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile) rs727503038
NM_001122606.1(LAMP2):c.(?_1094)_(1236_?)del
NM_001127217.3(SMAD9):c.995_996del (p.Ile332fs) rs1375423378
NM_001127453.2(GSDME):c.1213G>A (p.Gly405Ser) rs566450742
NM_001127453.2(GSDME):c.1355T>C (p.Phe452Ser) rs727502953
NM_001127453.2(GSDME):c.212-6T>A rs876657773
NM_001127453.2(GSDME):c.938T>C (p.Ile313Thr) rs1584052885
NM_001127453.2(GSDME):c.991T>C (p.Cys331Arg) rs373787249
NM_001127511.3(APC):c.137C>T (p.Thr46Ile) rs1016971418
NM_001128228.3(TPRN):c.1730_1732del (p.Lys577del) rs769707569
NM_001128228.3(TPRN):c.2074-5T>C rs1564383004
NM_001128228.3(TPRN):c.2083G>A (p.Ala695Thr) rs876658034
NM_001128840.3(CACNA1D):c.1508G>A (p.Arg503Gln) rs941177114
NM_001128840.3(CACNA1D):c.2414T>C (p.Ile805Thr) rs147933585
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser) rs147146258
NM_001128840.3(CACNA1D):c.4624G>C (p.Gly1542Arg) rs766813584
NM_001128840.3(CACNA1D):c.5408+4del rs1553687972
NM_001128840.3(CACNA1D):c.6044G>C (p.Ser2015Thr) rs766889110
NM_001128840.3(CACNA1D):c.6050C>T (p.Pro2017Leu) rs876657749
NM_001128840.3(CACNA1D):c.74A>G (p.Asn25Ser) rs1415040812
NM_001134363.3(RBM20):c.-16G>T rs876657975
NM_001134363.3(RBM20):c.1051G>C (p.Asp351His) rs372999896
NM_001134363.3(RBM20):c.1190A>C (p.His397Pro) rs727505262
NM_001134363.3(RBM20):c.136C>T (p.Pro46Ser) rs1554886574
NM_001134363.3(RBM20):c.1516G>A (p.Val506Met) rs1590677676
NM_001134363.3(RBM20):c.1519G>A (p.Gly507Arg) rs727503386
NM_001134363.3(RBM20):c.1769T>A (p.Met590Lys) rs794729147
NM_001134363.3(RBM20):c.1779A>T (p.Arg593Ser) rs876657973
NM_001134363.3(RBM20):c.2161G>T (p.Ala721Ser) rs876657976
NM_001134363.3(RBM20):c.2183_2185del (p.Glu728del) rs876657977
NM_001134363.3(RBM20):c.2286dup (p.Glu763fs) rs876657978
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) rs397516603
NM_001134363.3(RBM20):c.2723T>C (p.Leu908Pro) rs397516604
NM_001134363.3(RBM20):c.2727_2741del (p.Thr910_Val914del) rs876657979
NM_001134363.3(RBM20):c.2728A>C (p.Thr910Pro) rs397516606
NM_001134363.3(RBM20):c.2855C>T (p.Thr952Ile) rs727503390
NM_001134363.3(RBM20):c.3031G>A (p.Ala1011Thr) rs727503391
NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys) rs727504583
NM_001134363.3(RBM20):c.441C>A (p.His147Gln) rs397516619
NM_001134363.3(RBM20):c.530C>G (p.Thr177Arg) rs183130427
NM_001134363.3(RBM20):c.56C>G (p.Pro19Arg) rs727504766
NM_001134363.3(RBM20):c.746G>T (p.Gly249Val) rs397516623
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001145809.2(MYH14):c.1095C>A (p.Phe365Leu) rs727505251
NM_001145809.2(MYH14):c.1217A>G (p.Gln406Arg) rs552730148
NM_001145809.2(MYH14):c.1382G>A (p.Arg461His) rs370353590
NM_001145809.2(MYH14):c.2000C>A (p.Pro667Gln) rs530921955
NM_001145809.2(MYH14):c.2018G>A (p.Cys673Tyr) rs2034551985
NM_001145809.2(MYH14):c.2667C>G (p.His889Gln) rs876657872
NM_001145809.2(MYH14):c.2900C>G (p.Thr967Arg) rs142134135
NM_001145809.2(MYH14):c.3467+1G>A rs727503223
NM_001145809.2(MYH14):c.3571G>T (p.Ala1191Ser) rs776570317
NM_001145809.2(MYH14):c.563-3C>G rs1555755418
NM_001145809.2(MYH14):c.5959C>T (p.Arg1987Ter) rs727503230
NM_001145809.2(MYH14):c.5960+4T>C rs1555779636
NM_001145809.2(MYH14):c.5995C>A (p.Arg1999Ser) rs1375906074
NM_001145809.2(MYH14):c.949G>A (p.Gly317Arg) rs727503222
NM_001146079.2(CLDN14):c.337G>A (p.Ala113Thr) rs138631461
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr) rs201483656
NM_001194.4(HCN2):c.2332G>C (p.Ala778Pro) rs1060499864
NM_001195263.2(PDZD7):c.1115C>A (p.Thr372Lys) rs377765391
NM_001195263.2(PDZD7):c.1402A>G (p.Met468Val) rs1392510268
NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg) rs1590053918
NM_001195263.2(PDZD7):c.1841G>C (p.Arg614Thr) rs773503851
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4]) rs762000985
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del) rs397516636
NM_001195263.2(PDZD7):c.419G>A (p.Ser140Asn) rs1590069215
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) rs200664140
NM_001198.4(PRDM1):c.281del (p.Asn94fs) rs1582460592
NM_001199107.2(TBC1D24):c.-4C>T rs202124579
NM_001199107.2(TBC1D24):c.130T>C (p.Trp44Arg) rs1596967502
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln) rs765396824
NM_001199107.2(TBC1D24):c.1529G>A (p.Gly510Glu) rs755880523
NM_001199107.2(TBC1D24):c.1541A>G (p.Gln514Arg) rs2065786840
NM_001199107.2(TBC1D24):c.1558G>C (p.Gly520Arg) rs1555501693
NM_001199107.2(TBC1D24):c.621G>C (p.Gln207His) rs876658012
NM_001199799.2(ILDR1):c.*11C>T rs775202902
NM_001199799.2(ILDR1):c.-4C>T rs761442523
NM_001199799.2(ILDR1):c.1137G>C (p.Glu379Asp) rs1553743343
NM_001199799.2(ILDR1):c.1158G>C (p.Lys386Asn) rs1553743331
NM_001199799.2(ILDR1):c.1245G>T (p.Trp415Cys) rs140777020
NM_001199799.2(ILDR1):c.1357del (p.Arg453fs) rs759967990
NM_001199799.2(ILDR1):c.1526C>T (p.Pro509Leu) rs374884043
NM_001199799.2(ILDR1):c.1582A>G (p.Ser528Gly) rs727503095
NM_001199799.2(ILDR1):c.230-9del rs876657832
NM_001199799.2(ILDR1):c.380-10T>A rs748442864
NM_001199799.2(ILDR1):c.486G>T (p.Lys162Asn) rs142554264
NM_001199799.2(ILDR1):c.950T>G (p.Leu317Arg) rs1553743398
NM_001201397.2(EDNRB):c.7A>T (p.Lys3Ter) rs876657805
NM_001232.3(CASQ2):c.[730C>T;731A>G]
NM_001232.4(CASQ2):c.1090dup (p.Asp364fs) rs397516639
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001232.4(CASQ2):c.781T>C (p.Trp261Arg) rs397516642
NM_001232.4(CASQ2):c.783+3A>T rs876657751
NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln) rs139228801
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val) rs200288250
NM_001243133.2(NLRP3):c.619T>C (p.Phe207Leu) rs776833139
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001256317.3(TMPRSS3):c.1087T>G (p.Leu363Val) rs397517370
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) rs727503492
NM_001256317.3(TMPRSS3):c.1180G>C (p.Asp394His) rs111033537
NM_001256317.3(TMPRSS3):c.234A>C (p.Arg78Ser) rs567503320
NM_001256317.3(TMPRSS3):c.238C>T (p.Arg80Cys) rs143733205
NM_001256317.3(TMPRSS3):c.257T>A (p.Ile86Asn) rs397517372
NM_001256317.3(TMPRSS3):c.272G>A (p.Arg91Gln) rs397517373
NM_001256317.3(TMPRSS3):c.550T>G (p.Leu184Val) rs876658022
NM_001256317.3(TMPRSS3):c.613A>C (p.Thr205Pro) rs1175336303
NM_001256317.3(TMPRSS3):c.948C>G (p.Phe316Leu) rs727504592
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.10045A>G (p.Thr3349Ala) rs777960129
NM_001267550.2(TTN):c.100980G>C (p.Glu33660Asp) rs727503536
NM_001267550.2(TTN):c.101250C>G (p.Ile33750Met) rs397517784
NM_001267550.2(TTN):c.101369T>A (p.Met33790Lys) rs876658097
NM_001267550.2(TTN):c.101754T>G (p.Ser33918Arg) rs952080555
NM_001267550.2(TTN):c.102028A>C (p.Ser34010Arg) rs727503534
NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val) rs761105256
NM_001267550.2(TTN):c.103804C>G (p.Gln34602Glu) rs727505242
NM_001267550.2(TTN):c.104414G>T (p.Arg34805Leu) rs115150240
NM_001267550.2(TTN):c.104950del (p.Glu34984fs) rs727503533
NM_001267550.2(TTN):c.104993C>A (p.Thr34998Asn) rs397517794
NM_001267550.2(TTN):c.1049A>G (p.Tyr350Cys) rs563369722
NM_001267550.2(TTN):c.105136G>A (p.Glu35046Lys) rs540500017
NM_001267550.2(TTN):c.10523C>T (p.Thr3508Ile) rs397517823
NM_001267550.2(TTN):c.105466C>G (p.Pro35156Ala) rs876658100
NM_001267550.2(TTN):c.105630A>C (p.Gln35210His) rs397517798
NM_001267550.2(TTN):c.10577T>C (p.Ile3526Thr) rs727503677
NM_001267550.2(TTN):c.105818C>A (p.Pro35273Gln) rs1553484561
NM_001267550.2(TTN):c.106445C>G (p.Thr35482Ser) rs397517799
NM_001267550.2(TTN):c.107147del (p.Gly35716fs) rs876658101
NM_001267550.2(TTN):c.107223+1G>A rs876658102
NM_001267550.2(TTN):c.11140A>G (p.Ile3714Val) rs397517833
NM_001267550.2(TTN):c.11450G>A (p.Gly3817Asp) rs371056587
NM_001267550.2(TTN):c.11546C>T (p.Pro3849Leu) rs727503662
NM_001267550.2(TTN):c.11602T>C (p.Phe3868Leu) rs727504700
NM_001267550.2(TTN):c.11657del (p.Asp3886fs) rs397517826
NM_001267550.2(TTN):c.11756C>T (p.Thr3919Ile) rs727503661
NM_001267550.2(TTN):c.1186G>A (p.Ala396Thr) rs200052202
NM_001267550.2(TTN):c.1246-5T>C rs727503707
NM_001267550.2(TTN):c.12734A>G (p.Asn4245Ser) rs879167134
NM_001267550.2(TTN):c.12851A>C (p.Gln4284Pro) rs876658107
NM_001267550.2(TTN):c.12887C>T (p.Ser4296Leu) rs727503657
NM_001267550.2(TTN):c.13078A>C (p.Lys4360Gln) rs727504903
NM_001267550.2(TTN):c.1312G>A (p.Val438Met) rs727504795
NM_001267550.2(TTN):c.13265T>G (p.Ile4422Ser) rs727503656
NM_001267550.2(TTN):c.1349C>T (p.Ala450Val) rs727503706
NM_001267550.2(TTN):c.13654G>A (p.Val4552Ile) rs374214280
NM_001267550.2(TTN):c.13793del (p.Gly4598fs) rs727503653
NM_001267550.2(TTN):c.13864A>G (p.Ile4622Val) rs397517831
NM_001267550.2(TTN):c.14326A>G (p.Asn4776Asp) rs727505309
NM_001267550.2(TTN):c.14828C>A (p.Ala4943Glu) rs540497678
NM_001267550.2(TTN):c.1499C>T (p.Thr500Ile) rs727503704
NM_001267550.2(TTN):c.15040A>G (p.Thr5014Ala) rs143093473
NM_001267550.2(TTN):c.15130G>A (p.Val5044Ile) rs727503650
NM_001267550.2(TTN):c.15369_15371del (p.Leu5123del) rs397517480
NM_001267550.2(TTN):c.15415A>G (p.Ser5139Gly) rs876658040
NM_001267550.2(TTN):c.15497-8T>C rs727505010
NM_001267550.2(TTN):c.16367C>A (p.Pro5456His) rs876658041
NM_001267550.2(TTN):c.16492A>G (p.Ile5498Val) rs876658042
NM_001267550.2(TTN):c.16751T>A (p.Ile5584Asn) rs779652311
NM_001267550.2(TTN):c.1691C>T (p.Ala564Val) rs727505068
NM_001267550.2(TTN):c.17208C>G (p.Ile5736Met) rs397517484
NM_001267550.2(TTN):c.17386C>G (p.His5796Asp) rs397517485
NM_001267550.2(TTN):c.17752C>A (p.Pro5918Thr) rs727504480
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg) rs191057824
NM_001267550.2(TTN):c.1828G>C (p.Val610Leu) rs397517499
NM_001267550.2(TTN):c.18413C>A (p.Ser6138Tyr) rs727504477
NM_001267550.2(TTN):c.19015T>C (p.Tyr6339His) rs397517490
NM_001267550.2(TTN):c.19282A>T (p.Ser6428Cys) rs727505137
NM_001267550.2(TTN):c.19426+2T>A rs727505178
NM_001267550.2(TTN):c.19483G>A (p.Gly6495Ser) rs397517491
NM_001267550.2(TTN):c.20260A>G (p.Lys6754Glu) rs397517494
NM_001267550.2(TTN):c.2076G>T (p.Lys692Asn) rs1333188525
NM_001267550.2(TTN):c.20971A>G (p.Ser6991Gly) rs397517496
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter) rs727505277
NM_001267550.2(TTN):c.21382C>G (p.Arg7128Gly) rs727505031
NM_001267550.2(TTN):c.2143A>G (p.Arg715Gly) rs727505258
NM_001267550.2(TTN):c.21755C>T (p.Thr7252Ile) rs375714080
NM_001267550.2(TTN):c.22361G>A (p.Arg7454Lys) rs727504464
NM_001267550.2(TTN):c.22386T>G (p.Asp7462Glu) rs183482849
NM_001267550.2(TTN):c.23371T>C (p.Phe7791Leu) rs727505045
NM_001267550.2(TTN):c.23537T>A (p.Phe7846Tyr) rs397517504
NM_001267550.2(TTN):c.2359A>G (p.Ile787Val) rs397517522
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met) rs149061352
NM_001267550.2(TTN):c.24823G>A (p.Ala8275Thr) rs771947778
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser) rs200972189
NM_001267550.2(TTN):c.25706A>G (p.Tyr8569Cys) rs397517516
NM_001267550.2(TTN):c.26345A>G (p.Asn8782Ser) rs727504895
NM_001267550.2(TTN):c.27328+4T>G rs876658048
NM_001267550.2(TTN):c.2776G>A (p.Val926Ile) rs876658052
NM_001267550.2(TTN):c.27941T>A (p.Val9314Asp) rs727505348
NM_001267550.2(TTN):c.28139G>T (p.Gly9380Val) rs397517528
NM_001267550.2(TTN):c.28587A>C (p.Lys9529Asn) rs876658049
NM_001267550.2(TTN):c.28754A>C (p.Glu9585Ala) rs200856239
NM_001267550.2(TTN):c.28903A>G (p.Arg9635Gly) rs397517531
NM_001267550.2(TTN):c.29278G>A (p.Asp9760Asn) rs372537023
NM_001267550.2(TTN):c.29448AGA[2] (p.Glu9820del) rs377232641
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr) rs189286381
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg) rs148269839
NM_001267550.2(TTN):c.30296G>A (p.Cys10099Tyr) rs1253569310
NM_001267550.2(TTN):c.30803-15C>T rs397517535
NM_001267550.2(TTN):c.3089T>C (p.Leu1030Pro) rs727504809
NM_001267550.2(TTN):c.31014T>G (p.Tyr10338Ter) rs397517536
NM_001267550.2(TTN):c.31207+5G>A rs876658051
NM_001267550.2(TTN):c.31255C>T (p.Pro10419Ser) rs397517537
NM_001267550.2(TTN):c.32311G>A (p.Val10771Met) rs549877654
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.32449G>A (p.Glu10817Lys) rs876658053
NM_001267550.2(TTN):c.32866del (p.Arg10956fs) rs876658054
NM_001267550.2(TTN):c.33404C>A (p.Ala11135Glu) rs577901623
NM_001267550.2(TTN):c.33479C>T (p.Thr11160Ile) rs876658055
NM_001267550.2(TTN):c.33580+6T>C rs368442571
NM_001267550.2(TTN):c.33971A>G (p.Lys11324Arg) rs727504880
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5]) rs397517548
NM_001267550.2(TTN):c.34709-1G>A rs727503634
NM_001267550.2(TTN):c.3476G>A (p.Arg1159His) rs149883066
NM_001267550.2(TTN):c.3523G>A (p.Ala1175Thr) rs397517570
NM_001267550.2(TTN):c.3625T>C (p.Phe1209Leu) rs727503698
NM_001267550.2(TTN):c.37397C>T (p.Pro12466Leu) rs727503632
NM_001267550.2(TTN):c.385G>A (p.Gly129Arg) rs727503708
NM_001267550.2(TTN):c.39282TCC[1] (p.Pro13097del) rs727503631
NM_001267550.2(TTN):c.39325G>C (p.Glu13109Gln) rs727504920
NM_001267550.2(TTN):c.39419C>T (p.Ala13140Val) rs397517556
NM_001267550.2(TTN):c.39819_39820delinsTT (p.Pro13274Ser) rs727503630
NM_001267550.2(TTN):c.39895G>A (p.Glu13299Lys) rs758166967
NM_001267550.2(TTN):c.40315G>T (p.Val13439Phe) rs397517559
NM_001267550.2(TTN):c.40723+1del rs876658058
NM_001267550.2(TTN):c.40877-14T>C rs397517561
NM_001267550.2(TTN):c.40956A>G (p.Ile13652Met) rs397517562
NM_001267550.2(TTN):c.41140A>G (p.Thr13714Ala) rs876658057
NM_001267550.2(TTN):c.41143G>A (p.Ala13715Thr) rs1192068092
NM_001267550.2(TTN):c.41179C>G (p.Arg13727Gly) rs397517563
NM_001267550.2(TTN):c.41407G>A (p.Glu13803Lys) rs727504780
NM_001267550.2(TTN):c.41504G>A (p.Arg13835Gln) rs727504539
NM_001267550.2(TTN):c.41G>T (p.Ser14Ile) rs771027745
NM_001267550.2(TTN):c.42046G>A (p.Gly14016Ser) rs367751077
NM_001267550.2(TTN):c.42278A>G (p.Lys14093Arg) rs1553743733
NM_001267550.2(TTN):c.4269_4298del (p.1420ARMSP[2]) rs727503696
NM_001267550.2(TTN):c.42947-2A>G rs1553741357
NM_001267550.2(TTN):c.42950G>A (p.Arg14317Gln) rs727505144
NM_001267550.2(TTN):c.43138T>C (p.Cys14380Arg) rs557125278
NM_001267550.2(TTN):c.43984G>C (p.Asp14662His) rs876658059
NM_001267550.2(TTN):c.44350G>A (p.Asp14784Asn) rs72677216
NM_001267550.2(TTN):c.44390A>G (p.Tyr14797Cys) rs876658060
NM_001267550.2(TTN):c.44400del (p.Lys14801fs) rs727503628
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del) rs727505315
NM_001267550.2(TTN):c.44531C>G (p.Ala14844Gly) rs1053826157
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His) rs373109469
NM_001267550.2(TTN):c.45082+6A>G rs876658061
NM_001267550.2(TTN):c.45268C>A (p.Gln15090Lys) rs397517579
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.46078_46092del (p.Ile15360_Gly15364del) rs727505075
NM_001267550.2(TTN):c.46150C>G (p.Leu15384Val) rs727505078
NM_001267550.2(TTN):c.46611G>T (p.Gln15537His) rs727503625
NM_001267550.2(TTN):c.46667AAG[1] (p.Glu15557del) rs876658062
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser) rs397517588
NM_001267550.2(TTN):c.46951A>G (p.Asn15651Asp) rs727505035
NM_001267550.2(TTN):c.46966G>A (p.Asp15656Asn) rs727504572
NM_001267550.2(TTN):c.47211A>C (p.Arg15737Ser) rs727503624
NM_001267550.2(TTN):c.48074G>A (p.Ser16025Asn) rs727504720
NM_001267550.2(TTN):c.48457G>T (p.Ala16153Ser) rs876658063
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu) rs769784536
NM_001267550.2(TTN):c.48638+5G>T rs397517594
NM_001267550.2(TTN):c.49533-13G>A rs13395942
NM_001267550.2(TTN):c.4960C>G (p.Pro1654Ala) rs876658070
NM_001267550.2(TTN):c.49732G>T (p.Asp16578Tyr) rs727505143
NM_001267550.2(TTN):c.49942A>G (p.Lys16648Glu) rs727505156
NM_001267550.2(TTN):c.49955C>T (p.Pro16652Leu) rs727504966
NM_001267550.2(TTN):c.50249-15T>G rs727504732
NM_001267550.2(TTN):c.50494G>A (p.Ala16832Thr) rs1465354124
NM_001267550.2(TTN):c.50647C>T (p.Pro16883Ser) rs397517602
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val) rs372013419
NM_001267550.2(TTN):c.51221A>G (p.Asp17074Gly) rs1553693510
NM_001267550.2(TTN):c.51338C>T (p.Pro17113Leu) rs763635220
NM_001267550.2(TTN):c.51379G>T (p.Val17127Phe) rs397517603
NM_001267550.2(TTN):c.51547A>T (p.Ile17183Phe) rs397517605
NM_001267550.2(TTN):c.52406-6T>A rs727504767
NM_001267550.2(TTN):c.52448C>T (p.Thr17483Ile) rs1553688779
NM_001267550.2(TTN):c.52656_52684delinsCAGATCCCAAAACAGATCCC (p.Gly17553_Lys17562delinsArgSerGlnAsnArgSerGln) rs727503613
NM_001267550.2(TTN):c.52681C>A (p.Pro17561Thr) rs727503612
NM_001267550.2(TTN):c.53080G>C (p.Ala17694Pro) rs727503611
NM_001267550.2(TTN):c.53096G>C (p.Arg17699Pro) rs72646808
NM_001267550.2(TTN):c.53287+1G>A rs1064794266
NM_001267550.2(TTN):c.53517_53519del (p.Lys17840del) rs727504701
NM_001267550.2(TTN):c.53558C>G (p.Pro17853Arg) rs727503609
NM_001267550.2(TTN):c.53581G>A (p.Gly17861Ser) rs1576357395
NM_001267550.2(TTN):c.53696T>C (p.Ile17899Thr) rs369723141
NM_001267550.2(TTN):c.54057A>C (p.Glu18019Asp) rs397517614
NM_001267550.2(TTN):c.54130A>G (p.Thr18044Ala) rs397517616
NM_001267550.2(TTN):c.54812T>G (p.Phe18271Cys) rs727503601
NM_001267550.2(TTN):c.54882A>C (p.Lys18294Asn) rs770482704
NM_001267550.2(TTN):c.55303-10C>G rs773047398
NM_001267550.2(TTN):c.55952A>G (p.Glu18651Gly) rs876658067
NM_001267550.2(TTN):c.56788A>G (p.Arg18930Gly) rs727503595
NM_001267550.2(TTN):c.56801T>A (p.Val18934Asp) rs1553663624
NM_001267550.2(TTN):c.56956C>A (p.Pro18986Thr) rs568015697
NM_001267550.2(TTN):c.57017A>G (p.Asp19006Gly) rs747343924
NM_001267550.2(TTN):c.57232A>G (p.Thr19078Ala) rs727503593
NM_001267550.2(TTN):c.57693G>T (p.Trp19231Cys) rs876658071
NM_001267550.2(TTN):c.57847+1G>A rs397517631
NM_001267550.2(TTN):c.58049AAG[1] (p.Glu19351del) rs397517634
NM_001267550.2(TTN):c.58274C>G (p.Ala19425Gly) rs727504525
NM_001267550.2(TTN):c.58394C>G (p.Thr19465Arg) rs571477228
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val) rs397517637
NM_001267550.2(TTN):c.58897A>G (p.Ile19633Val) rs727505028
NM_001267550.2(TTN):c.5917A>G (p.Thr1973Ala) rs397517666
NM_001267550.2(TTN):c.5929G>A (p.Val1977Met) rs876658075
NM_001267550.2(TTN):c.59504T>G (p.Val19835Gly) rs727504511
NM_001267550.2(TTN):c.59570T>C (p.Leu19857Ser) rs547180437
NM_001267550.2(TTN):c.59632C>T (p.Pro19878Ser) rs752854931
NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn) rs374163882
NM_001267550.2(TTN):c.5992C>T (p.Arg1998Cys) rs727503692
NM_001267550.2(TTN):c.6029A>G (p.Tyr2010Cys) rs397517672
NM_001267550.2(TTN):c.60746A>C (p.Glu20249Ala) rs397517646
NM_001267550.2(TTN):c.609G>C (p.Lys203Asn) rs1554042109
NM_001267550.2(TTN):c.61615G>A (p.Ala20539Thr) rs754756569
NM_001267550.2(TTN):c.61742T>G (p.Val20581Gly) rs727504849
NM_001267550.2(TTN):c.6227A>G (p.Glu2076Gly) rs397517680
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del) rs727505236
NM_001267550.2(TTN):c.63241A>T (p.Ile21081Leu) rs876658074
NM_001267550.2(TTN):c.63269A>T (p.Tyr21090Phe) rs377480514
NM_001267550.2(TTN):c.63632T>C (p.Val21211Ala) rs397517654
NM_001267550.2(TTN):c.64589C>T (p.Thr21530Ile) rs397517659
NM_001267550.2(TTN):c.64774A>G (p.Ile21592Val) rs727503581
NM_001267550.2(TTN):c.65194T>C (p.Phe21732Leu) rs397517661
NM_001267550.2(TTN):c.65243C>T (p.Pro21748Leu) rs1419714561
NM_001267550.2(TTN):c.66275T>G (p.Leu22092Arg) rs1553627146
NM_001267550.2(TTN):c.66778G>A (p.Glu22260Lys) rs553988103
NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn) rs397517670
NM_001267550.2(TTN):c.67683G>C (p.Leu22561Phe) rs876658076
NM_001267550.2(TTN):c.68251A>C (p.Asn22751His) rs727504970
NM_001267550.2(TTN):c.68410A>G (p.Lys22804Glu) rs397517677
NM_001267550.2(TTN):c.68417C>T (p.Thr22806Ile) rs727503573
NM_001267550.2(TTN):c.68498C>T (p.Ser22833Leu) rs876658077
NM_001267550.2(TTN):c.68612A>C (p.His22871Pro) rs761622490
NM_001267550.2(TTN):c.68654C>T (p.Ser22885Leu) rs376574861
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile) rs534567766
NM_001267550.2(TTN):c.69117T>A (p.Asp23039Glu) rs727503572
NM_001267550.2(TTN):c.6913G>A (p.Glu2305Lys) rs367761468
NM_001267550.2(TTN):c.69844G>A (p.Val23282Ile) rs876658079
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.70600T>A (p.Ser23534Thr) rs397517686
NM_001267550.2(TTN):c.70625T>C (p.Met23542Thr) rs727503570
NM_001267550.2(TTN):c.70796A>T (p.Glu23599Val) rs727503568
NM_001267550.2(TTN):c.71332G>A (p.Ala23778Thr) rs727503566
NM_001267550.2(TTN):c.7133A>G (p.Lys2378Arg) rs727503690
NM_001267550.2(TTN):c.72236A>G (p.Lys24079Arg) rs775482499
NM_001267550.2(TTN):c.72652A>C (p.Asn24218His) rs727505243
NM_001267550.2(TTN):c.72874G>A (p.Glu24292Lys) rs727505240
NM_001267550.2(TTN):c.72985A>G (p.Asn24329Asp) rs397517694
NM_001267550.2(TTN):c.73385G>C (p.Trp24462Ser) rs1553607435
NM_001267550.2(TTN):c.73540G>T (p.Val24514Phe) rs1553607188
NM_001267550.2(TTN):c.74057C>G (p.Ser24686Cys) rs727504921
NM_001267550.2(TTN):c.74416C>T (p.Leu24806Phe) rs866687107
NM_001267550.2(TTN):c.74673G>C (p.Lys24891Asn) rs727504855
NM_001267550.2(TTN):c.75044C>T (p.Ala25015Val) rs397517699
NM_001267550.2(TTN):c.75104G>A (p.Gly25035Glu) rs727503560
NM_001267550.2(TTN):c.75127G>T (p.Val25043Phe) rs559907766
NM_001267550.2(TTN):c.7556T>G (p.Val2519Gly) rs372361514
NM_001267550.2(TTN):c.76027A>G (p.Lys25343Glu) rs727504596
NM_001267550.2(TTN):c.76229A>T (p.Asn25410Ile) rs397517706
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter) rs727503688
NM_001267550.2(TTN):c.76492C>G (p.Pro25498Ala) rs377754701
NM_001267550.2(TTN):c.76559T>C (p.Ile25520Thr) rs1553601714
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) rs56372592
NM_001267550.2(TTN):c.77171A>T (p.His25724Leu) rs768382014
NM_001267550.2(TTN):c.77182A>G (p.Ser25728Gly) rs1306199809
NM_001267550.2(TTN):c.77564T>A (p.Leu25855His) rs397517710
NM_001267550.2(TTN):c.77789A>C (p.Lys25930Thr) rs397517711
NM_001267550.2(TTN):c.78370A>T (p.Ile26124Phe) rs397517713
NM_001267550.2(TTN):c.78481T>A (p.Phe26161Ile) rs876658082
NM_001267550.2(TTN):c.79109G>A (p.Gly26370Glu) rs727505061
NM_001267550.2(TTN):c.79207A>G (p.Met26403Val) rs876658083
NM_001267550.2(TTN):c.79217G>C (p.Cys26406Ser) rs727505223
NM_001267550.2(TTN):c.79343T>G (p.Val26448Gly) rs1553590427
NM_001267550.2(TTN):c.79827del (p.Ala26610fs) rs397517715
NM_001267550.2(TTN):c.80006G>A (p.Ser26669Asn) rs727505214
NM_001267550.2(TTN):c.8131A>C (p.Lys2711Gln) rs727504735
NM_001267550.2(TTN):c.81881T>G (p.Val27294Gly) rs876658084
NM_001267550.2(TTN):c.81901G>A (p.Gly27301Ser) rs727504650
NM_001267550.2(TTN):c.82759G>A (p.Val27587Ile) rs876658085
NM_001267550.2(TTN):c.83611A>T (p.Thr27871Ser) rs397517724
NM_001267550.2(TTN):c.84095C>A (p.Thr28032Asn) rs876658087
NM_001267550.2(TTN):c.84451C>A (p.Pro28151Thr) rs727504873
NM_001267550.2(TTN):c.84523T>C (p.Trp28175Arg) rs397517728
NM_001267550.2(TTN):c.84553C>T (p.Arg28185Ter) rs397517729
NM_001267550.2(TTN):c.84625A>G (p.Ile28209Val) rs753472730
NM_001267550.2(TTN):c.85598_85603del (p.Val28533_Gly28534del) rs727503553
NM_001267550.2(TTN):c.8633_8636del (p.Phe2878fs) rs727503686
NM_001267550.2(TTN):c.86377A>G (p.Thr28793Ala) rs727505234
NM_001267550.2(TTN):c.86429T>C (p.Leu28810Pro) rs397517734
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.86810T>A (p.Val28937Glu) rs1702746268
NM_001267550.2(TTN):c.8685G>T (p.Glu2895Asp) rs727503685
NM_001267550.2(TTN):c.87049G>A (p.Ala29017Thr) rs727505050
NM_001267550.2(TTN):c.87377C>G (p.Thr29126Ser) rs559269036
NM_001267550.2(TTN):c.88297G>C (p.Asp29433His) rs189202799
NM_001267550.2(TTN):c.88306+1G>C rs727503550
NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu) rs397517763
NM_001267550.2(TTN):c.8953A>T (p.Thr2985Ser) rs727503684
NM_001267550.2(TTN):c.89545G>T (p.Val29849Phe) rs727504493
NM_001267550.2(TTN):c.89766G>C (p.Lys29922Asn) rs397517745
NM_001267550.2(TTN):c.9031A>G (p.Thr3011Ala) rs727504682
NM_001267550.2(TTN):c.90409C>T (p.Pro30137Ser) rs727505150
NM_001267550.2(TTN):c.90415G>A (p.Ala30139Thr) rs397517748
NM_001267550.2(TTN):c.90834T>A (p.Ser30278Arg) rs397517751
NM_001267550.2(TTN):c.90904G>A (p.Glu30302Lys) rs1553538924
NM_001267550.2(TTN):c.91108C>G (p.Leu30370Val) rs876658092
NM_001267550.2(TTN):c.91478A>G (p.Glu30493Gly) rs397517754
NM_001267550.2(TTN):c.915-7dup rs730880351
NM_001267550.2(TTN):c.9160G>A (p.Glu3054Lys) rs397517779
NM_001267550.2(TTN):c.92498C>T (p.Thr30833Ile) rs727505334
NM_001267550.2(TTN):c.92513T>A (p.Val30838Glu) rs727505344
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro) rs373366126
NM_001267550.2(TTN):c.93101C>A (p.Thr31034Lys) rs727504875
NM_001267550.2(TTN):c.93178C>T (p.Arg31060Cys) rs750303653
NM_001267550.2(TTN):c.93472G>C (p.Asp31158His) rs397517757
NM_001267550.2(TTN):c.9369T>G (p.Asp3123Glu) rs397517785
NM_001267550.2(TTN):c.9384dup (p.Val3129fs) rs727503683
NM_001267550.2(TTN):c.94057A>T (p.Thr31353Ser) rs727503548
NM_001267550.2(TTN):c.95363A>G (p.Tyr31788Cys) rs397517761
NM_001267550.2(TTN):c.95543AGA[2] (p.Lys31850del) rs727504556
NM_001267550.2(TTN):c.95594A>T (p.Asp31865Val) rs876658094
NM_001267550.2(TTN):c.95732G>A (p.Gly31911Glu) rs778837156
NM_001267550.2(TTN):c.95744C>T (p.Ala31915Val) rs1553519431
NM_001267550.2(TTN):c.95848G>A (p.Glu31950Lys) rs727505199
NM_001267550.2(TTN):c.95864A>T (p.Gln31955Leu) rs552683796
NM_001267550.2(TTN):c.95968G>A (p.Val31990Met) rs727503541
NM_001267550.2(TTN):c.961G>A (p.Val321Ile) rs876658099
NM_001267550.2(TTN):c.96229C>T (p.Arg32077Trp) rs751316145
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.96478A>G (p.Ser32160Gly) rs727504907
NM_001267550.2(TTN):c.96499T>C (p.Ser32167Pro) rs727504889
NM_001267550.2(TTN):c.96659C>T (p.Thr32220Ile) rs727505204
NM_001267550.2(TTN):c.96807A>T (p.Glu32269Asp) rs876658095
NM_001267550.2(TTN):c.97204_97205delinsAG (p.Pro32402Arg) rs864622675
NM_001267550.2(TTN):c.97331G>A (p.Arg32444His) rs184922462
NM_001267550.2(TTN):c.98000A>G (p.Gln32667Arg) rs397517773
NM_001267550.2(TTN):c.98158G>A (p.Gly32720Ser) rs727504768
NM_001267550.2(TTN):c.98296G>T (p.Asp32766Tyr) rs727504449
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu) rs727504588
NM_001267550.2(TTN):c.99273A>G (p.Ile33091Met) rs746305727
NM_001267550.2(TTN):c.99466C>A (p.His33156Asn) rs374666520
NM_001267550.2(TTN):c.99814C>T (p.Leu33272Phe) rs397517780
NM_001276345.2(TNNT2):c.163+5G>A rs727504254
NM_001276345.2(TNNT2):c.208A>C (p.Met70Leu) rs141837529
NM_001276345.2(TNNT2):c.228G>C (p.Lys76Asn) rs727504869
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser) rs397516451
NM_001276345.2(TNNT2):c.279G>C (p.Glu93Asp) rs727503514
NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr) rs397516452
NM_001276345.2(TNNT2):c.282A>T (p.Arg94Ser) rs397516453
NM_001276345.2(TNNT2):c.313A>G (p.Met105Val) rs397516458
NM_001276345.2(TNNT2):c.329A>G (p.Asn110Ser) rs727505027
NM_001276345.2(TNNT2):c.355C>T (p.His119Tyr) rs397516460
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) rs397516465
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.487G>A (p.Ala163Thr) rs727505030
NM_001276345.2(TNNT2):c.503G>A (p.Arg168Gln) rs397516468
NM_001276345.2(TNNT2):c.506G>A (p.Arg169Gln) rs45501500
NM_001276345.2(TNNT2):c.547C>G (p.Arg183Gly) rs727503512
NM_001276345.2(TNNT2):c.560C>A (p.Ala187Asp) rs397516473
NM_001276345.2(TNNT2):c.564G>C (p.Leu188Phe) rs201270895
NM_001276345.2(TNNT2):c.573G>T (p.Met191Ile) rs876658028
NM_001276345.2(TNNT2):c.581T>C (p.Phe194Ser) rs1553281172
NM_001276345.2(TNNT2):c.601-8C>A rs397516475
NM_001276345.2(TNNT2):c.628A>G (p.Lys210Glu) rs727503511
NM_001276345.2(TNNT2):c.638C>T (p.Thr213Ile) rs397516476
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) rs121964860
NM_001276345.2(TNNT2):c.644G>C (p.Arg215Pro) rs121964860
NM_001276345.2(TNNT2):c.679A>G (p.Lys227Glu) rs397516478
NM_001276345.2(TNNT2):c.682G>T (p.Val228Leu) rs397516479
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val) rs369181536
NM_001276345.2(TNNT2):c.784G>A (p.Glu262Lys) rs727504488
NM_001276345.2(TNNT2):c.854C>A (p.Ser285Tyr) rs876658029
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001276345.2(TNNT2):c.866G>A (p.Gly289Glu) rs727505233
NM_001276345.2(TNNT2):c.97G>A (p.Glu33Lys) rs377474357
NM_001277115.2(DNAH11):c.10009A>C (p.Ile3337Leu) rs145645790
NM_001277115.2(DNAH11):c.11186A>T (p.Tyr3729Phe) rs727502970
NM_001277115.2(DNAH11):c.4984G>C (p.Asp1662His) rs778565448
NM_001277115.2(DNAH11):c.5537T>A (p.Val1846Asp) rs727502968
NM_001277269.2(OTOG):c.4198_4215del (p.Lys1400_Ala1405del) rs876657940
NM_001277269.2(OTOG):c.7517-5_7518dup rs1295062471
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001286445.3(RIPOR2):c.2579T>C (p.Val860Ala) rs1581507142
NM_001289808.2(CRYAB):c.265C>T (p.Leu89Phe) rs797044515
NM_001289808.2(CRYAB):c.353T>C (p.Phe118Ser) rs876657766
NM_001292063.2(OTOG):c.14C>T (p.Ala5Val) rs1018902503
NM_001292063.2(OTOG):c.1955+4C>A rs757779986
NM_001292063.2(OTOG):c.2939G>C (p.Arg980Pro) rs876657938
NM_001292063.2(OTOG):c.4060C>A (p.Pro1354Thr) rs1554974319
NM_001292063.2(OTOG):c.4156G>A (p.Asp1386Asn) rs876657939
NM_001292063.2(OTOG):c.5408C>A (p.Pro1803His) rs1853511496
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His) rs188527711
NM_001292063.2(OTOG):c.6179G>T (p.Arg2060Leu) rs188527711
NM_001292063.2(OTOG):c.6181G>T (p.Val2061Leu) rs748497956
NM_001292063.2(OTOG):c.6293-3C>G rs201371081
NM_001292063.2(OTOG):c.7147G>A (p.Gly2383Arg) rs866627770
NM_001292063.2(OTOG):c.7261A>G (p.Lys2421Glu) rs876657941
NM_001292063.2(OTOG):c.7364C>A (p.Thr2455Asn) rs1554979068
NM_001292063.2(OTOG):c.8018_8019delinsAT (p.Ala2673Asp) rs876657945
NM_001292063.2(OTOG):c.938C>T (p.Pro313Leu) rs767555421
NM_001318895.3(FHL2):c.284A>G (p.Asn95Ser) rs727505151
NM_001318895.3(FHL2):c.391C>T (p.Arg131Cys) rs397517959
NM_001318895.3(FHL2):c.595C>A (p.Arg199Ser) rs373259092
NM_001318895.3(FHL2):c.62T>A (p.Leu21Gln) rs755805016
NM_001318895.3(FHL2):c.671G>T (p.Cys224Phe) rs727504994
NM_001318895.3(FHL2):c.678C>A (p.Asn226Lys) rs137869171
NM_001318895.3(FHL2):c.81C>A (p.Tyr27Ter) rs727503060
NM_001330.5(CTF1):c.319C>T (p.Arg107Cys) rs727502950
NM_001330691.3(CEP78):c.485A>G (p.Asp162Gly) rs1826169363
NM_001349338.3(FOXP1):c.274G>C (p.Ala92Pro) rs1388674903
NM_001354604.2(MITF):c.1040G>A (p.Arg347His) rs1195515853
NM_001354604.2(MITF):c.105-12789C>T rs761597919
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
NM_001354604.2(MITF):c.1202C>T (p.Ala401Val) rs1553706163
NM_001354604.2(MITF):c.452A>C (p.His151Pro) rs1576004813
NM_001354604.2(MITF):c.60G>T (p.Glu20Asp) rs780642512
NM_001354604.2(MITF):c.639C>G (p.Asn213Lys) rs137944487
NM_001368067.1(LDB3):c.775C>G (p.Arg259Gly) rs397516560
NM_001369.3(DNAH5):c.8128G>A (p.Gly2710Ser) rs1219540537
NM_001370259.2(MEN1):c.655-6C>A rs77461664
NM_001371333.1(DIABLO):c.-9C>G rs755788729
NM_001371333.1(DIABLO):c.291T>G (p.Ile97Met) rs876657775
NM_001371333.1(DIABLO):c.634_635del (p.Gln212fs) rs1430893033
NM_001372044.2(SHANK3):c.3664C>T (p.Gln1222Ter) rs751604326
NM_001374736.1(DST):c.14071T>G (p.Leu4691Val) rs1060499855
NM_001374828.1(ARID1B):c.2907G>A (p.Met969Ile) rs1060499843
NM_001378454.1(ALMS1):c.10870T>C (p.Ser3624Pro) rs1573030477
NM_001378454.1(ALMS1):c.1093G>A (p.Asp365Asn) rs1229379546
NM_001378454.1(ALMS1):c.3325C>A (p.Gln1109Lys) rs1671890891
NM_001378454.1(ALMS1):c.3730A>G (p.Lys1244Glu) rs757303904
NM_001378454.1(ALMS1):c.3731A>T (p.Lys1244Met) rs1671903375
NM_001378454.1(ALMS1):c.4111A>G (p.Thr1371Ala) rs1572934899
NM_001378454.1(ALMS1):c.4808C>G (p.Pro1603Arg) rs1572935792
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr) rs1572937937
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu) rs6546839
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.8898T>A (p.Leu2966=) rs1572970207
NM_001378469.1(BRAF):c.1178-61A>G rs397516886
NM_001378609.3(OTOGL):c.1582G>A (p.Glu528Lys) rs876657942
NM_001378609.3(OTOGL):c.1892C>G (p.Ser631Cys) rs373638514
NM_001378609.3(OTOGL):c.3323C>T (p.Ala1108Val) rs1592682793
NM_001378609.3(OTOGL):c.335-9del rs754987281
NM_001378609.3(OTOGL):c.3605G>A (p.Cys1202Tyr) rs876657948
NM_001378609.3(OTOGL):c.3935A>C (p.His1312Pro) rs768575822
NM_001378609.3(OTOGL):c.4279+3_4279+6del rs1592713988
NM_001378609.3(OTOGL):c.6748G>C (p.Val2250Leu) rs77741668
NM_001378609.3(OTOGL):c.6922G>A (p.Glu2308Lys) rs1891257108
NM_001379180.1(ESRRB):c.*1402C>A rs1595180187
NM_001379180.1(ESRRB):c.*1559A>G rs776268469
NM_001379180.1(ESRRB):c.*2241dup rs1555345959
NM_001379180.1(ESRRB):c.1259del (p.Leu420fs) rs876657807
NM_001379180.1(ESRRB):c.460+5G>A rs876657808
NM_001379180.1(ESRRB):c.533C>T (p.Ala178Val) rs1368040979
NM_001379180.1(ESRRB):c.659T>C (p.Leu220Ser) rs886050806
NM_001379500.1(COL18A1):c.107-12645dup rs752078007
NM_001382567.1(STIM1):c.7G>A (p.Val3Ile) rs1060499904
NM_001384140.1(PCDH15):c.*14A>G rs876657950
NM_001384140.1(PCDH15):c.1045C>G (p.Leu349Val) rs1554841242
NM_001384140.1(PCDH15):c.1102G>A (p.Glu368Lys) rs1554833865
NM_001384140.1(PCDH15):c.1195A>G (p.Ser399Gly) rs199786639
NM_001384140.1(PCDH15):c.1537T>C (p.Ser513Pro) rs876657951
NM_001384140.1(PCDH15):c.169G>A (p.Val57Met) rs1589122156
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.2691G>C (p.Glu897Asp) rs876657952
NM_001384140.1(PCDH15):c.3373+3A>G rs397517456
NM_001384140.1(PCDH15):c.3579A>C (p.Glu1193Asp) rs1564640040
NM_001384140.1(PCDH15):c.4213C>G (p.Arg1405Gly) rs148046721
NM_001384140.1(PCDH15):c.4343A>G (p.Tyr1448Cys) rs397517459
NM_001384140.1(PCDH15):c.4343_4344del (p.Leu1447_Tyr1448insTer) rs1588967380
NM_001384140.1(PCDH15):c.466G>A (p.Val156Met) rs534173969
NM_001384140.1(PCDH15):c.4671+1033dup rs1554815895
NM_001384140.1(PCDH15):c.4671+1164_4671+1167del rs483353074
NM_001384140.1(PCDH15):c.4671+1206G>T rs1588875434
NM_001384140.1(PCDH15):c.4671+1256del rs1404094905
NM_001384140.1(PCDH15):c.4671+1418T>C rs730880021
NM_001384140.1(PCDH15):c.4671+1595GAA[3] rs730880019
NM_001384140.1(PCDH15):c.4672-1607delinsAGT rs730880020
NM_001384140.1(PCDH15):c.4672-1657del rs876657949
NM_001384140.1(PCDH15):c.5105_5108dup (p.Asp1703_Ser1704insTer) rs770322907
NM_001384140.1(PCDH15):c.947C>T (p.Pro316Leu) rs397517469
NM_001384140.1(PCDH15):c.974C>T (p.Ser325Phe) rs145011716
NM_001384474.1(LOXHD1):c.130+4C>A rs1024865273
NM_001384474.1(LOXHD1):c.131-11_131-10delinsAA rs876657857
NM_001384474.1(LOXHD1):c.1810-6C>A rs199804946
NM_001384474.1(LOXHD1):c.1810-6C>G rs199804946
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_001384474.1(LOXHD1):c.2696G>A (p.Arg899Gln) rs745683775
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2916AGAGGAGGA[1] (p.Glu976_Glu978del) rs765944082
NM_001384474.1(LOXHD1):c.3145G>A (p.Glu1049Lys) rs727504468
NM_001384474.1(LOXHD1):c.3626C>T (p.Thr1209Ile) rs727504804
NM_001384474.1(LOXHD1):c.4000G>A (p.Asp1334Asn) rs1555673818
NM_001384474.1(LOXHD1):c.4090G>T (p.Val1364Leu) rs144935513
NM_001384474.1(LOXHD1):c.4240G>T (p.Asp1414Tyr) rs750155249
NM_001384474.1(LOXHD1):c.4423G>T (p.Gly1475Trp) rs779091317
NM_001384474.1(LOXHD1):c.4525G>A (p.Gly1509Arg) rs727505320
NM_001384474.1(LOXHD1):c.4742A>G (p.Glu1581Gly) rs1555670255
NM_001384474.1(LOXHD1):c.4757G>T (p.Arg1586Leu) rs369890906
NM_001384474.1(LOXHD1):c.4877-3C>A rs876657861
NM_001384474.1(LOXHD1):c.4957G>A (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.4957G>C (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.5113_5125dup (p.Val1709fs) rs876657855
NM_001384474.1(LOXHD1):c.5922C>A (p.Asp1974Glu) rs1598827375
NM_001384474.1(LOXHD1):c.601G>A (p.Gly201Arg) rs727504992
NM_001384474.1(LOXHD1):c.621G>C (p.Arg207Ser) rs200328459
NM_001384474.1(LOXHD1):c.6268C>T (p.Arg2090Trp) rs569341831
NM_001384474.1(LOXHD1):c.6314C>A (p.Thr2105Asn) rs1555653083
NM_001384474.1(LOXHD1):c.6379AGGAAG[3] (p.2127RK[3]) rs1555651404
NM_001384474.1(LOXHD1):c.6710T>G (p.Val2237Gly) rs1555651054
NM_001386795.1(DTNA):c.1743+2112G>C rs876657802
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His) rs200246467
NM_001386795.1(DTNA):c.953C>A (p.Pro318His) rs727505085
NM_001393500.2(TOMT):c.573C>G (p.Asp191Glu) rs397516627
NM_001393500.2(TOMT):c.66C>G (p.His22Gln) rs727503152
NM_001399.5(EDA):c.1001G>C (p.Arg334Pro) rs142948132
NM_001399.5(EDA):c.1070G>C (p.Arg357Pro) rs61747506
NM_001399.5(EDA):c.1087A>G (p.Lys363Glu) rs397516653
NM_001399.5(EDA):c.1127A>G (p.His376Arg) rs1556111035
NM_001399.5(EDA):c.1151G>C (p.Arg384Thr) rs397516655
NM_001399.5(EDA):c.173_175del (p.Leu58del) rs397516658
NM_001399.5(EDA):c.201G>T (p.Glu67Asp) rs727505160
NM_001399.5(EDA):c.527-6T>G rs876657803
NM_001399.5(EDA):c.599C>A (p.Pro200Gln) rs397516669
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.740A>G (p.Gln247Arg) rs397516673
NM_001399.5(EDA):c.742-14T>G rs727504762
NM_001399.5(EDA):c.742-18T>G rs727504865
NM_001399.5(EDA):c.793G>A (p.Asp265Asn) rs397516674
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001399.5(EDA):c.881A>T (p.Glu294Val) rs397516678
NM_001399.5(EDA):c.917A>T (p.Gln306Leu) rs727503009
NM_001429.4(EP300):c.2997+1G>A rs1169505007
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter) rs1420159591
NM_001458.5(FLNC):c.1471G>C (p.Val491Leu) rs770264114
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001563.4(IMPG1):c.907C>T (p.Gln303Ter) rs1366194463
NM_001613.4(ACTA2):c.338A>C (p.Asn113Thr) rs397516680
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val) rs397516683
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.1051A>C (p.Thr351Pro) rs727502880
NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile) rs876657740
NM_001614.5(ACTG1):c.409C>G (p.Gln137Glu) rs876657741
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) rs727504862
NM_001614.5(ACTG1):c.548G>A (p.Arg183Gln) rs781945750
NM_001614.5(ACTG1):c.853T>C (p.Cys285Arg) rs727502882
NM_001625.4(AK2):c.*2347G>T rs1045885332
NM_001692.4(ATP6V1B1):c.1211T>C (p.Met404Thr) rs782107153
NM_001692.4(ATP6V1B1):c.1394G>T (p.Arg465Leu) rs142905621
NM_001692.4(ATP6V1B1):c.317G>A (p.Cys106Tyr) rs727502893
NM_001692.4(ATP6V1B1):c.370C>T (p.Arg124Trp) rs727505222
NM_001692.4(ATP6V1B1):c.5C>A (p.Ala2Asp) rs876657744
NM_001709.5(BDNF):c.-22+764G>C rs955482595
NM_001754.5(RUNX1):c.98-20_98-18del rs1555899933
NM_001927.4(DES):c.1189G>A (p.Ala397Thr) rs727502951
NM_001927.4(DES):c.1226T>C (p.Leu409Pro) rs397516687
NM_001927.4(DES):c.127A>G (p.Lys43Glu) rs397516689
NM_001927.4(DES):c.1366G>A (p.Gly456Arg) rs397516690
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001927.4(DES):c.347A>T (p.Asn116Ile) rs267607499
NM_001927.4(DES):c.376G>T (p.Val126Leu) rs876657770
NM_001927.4(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001927.4(DES):c.709G>A (p.Ala237Thr) rs397516697
NM_001927.4(DES):c.980A>C (p.Gln327Pro) rs397516700
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1109dup (p.Thr371fs) rs1555627118
NM_001943.5(DSG2):c.1154G>A (p.Gly385Asp) rs727504748
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.1399G>A (p.Val467Ile) rs727504533
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.152G>T (p.Trp51Leu) rs397516702
NM_001943.5(DSG2):c.2270T>C (p.Met757Thr) rs876657792
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2758G>A (p.Val920Ile) rs547741894
NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs) rs727502990
NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg) rs397516707
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn) rs386802145
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr) rs727505205
NM_001953.5(TYMP):c.1340_1361del (p.Leu447fs) rs772501604
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_002109.6(HARS1):c.745G>T (p.Val249Leu) rs1223501940
NM_002230.4(JUP):c.1153A>C (p.Lys385Gln) rs727505135
NM_002230.4(JUP):c.1646C>A (p.Pro549His) rs1555599683
NM_002230.4(JUP):c.1711G>T (p.Ala571Ser) rs397517297
NM_002230.4(JUP):c.1715G>T (p.Arg572Leu) rs397517298
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr) rs397517299
NM_002230.4(JUP):c.193G>T (p.Val65Leu) rs727503100
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del) rs781818082
NM_002249.6(KCNN3):c.200AGC[17] (p.Gln78_Gln80dup) rs3831942
NM_002294.3(LAMP2):c.-4G>A rs200297370
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.1093+2538G>A rs1602530706
NM_002294.3(LAMP2):c.1093+2565C>G rs876657846
NM_002294.3(LAMP2):c.1117G>A (p.Asp373Asn) rs727503117
NM_002294.3(LAMP2):c.1193T>C (p.Ile398Thr) rs727504625
NM_002294.3(LAMP2):c.184-7C>G rs397516737
NM_002294.3(LAMP2):c.371C>T (p.Thr124Ile) rs397516744
NM_002294.3(LAMP2):c.56T>G (p.Leu19Arg) rs397516745
NM_002294.3(LAMP2):c.602T>C (p.Ile201Thr) rs876657844
NM_002294.3(LAMP2):c.610A>C (p.Thr204Pro) rs876657845
NM_002294.3(LAMP2):c.842A>G (p.Tyr281Cys) rs397516748
NM_002294.3(LAMP2):c.845T>G (p.Leu282Arg) rs397516749
NM_002294.3(LAMP2):c.865-3C>A rs397516753
NM_002354.3(EPCAM):c.50C>T (p.Thr17Met) rs116429842
NM_002458.3(MUC5B):c.7663del (p.Thr2555fs) rs1060499877
NM_002471.4(MYH6):c.104C>G (p.Thr35Ser) rs876657875
NM_002471.4(MYH6):c.1112A>G (p.Glu371Gly) rs397516754
NM_002471.4(MYH6):c.1328G>C (p.Arg443Pro) rs202096001
NM_002471.4(MYH6):c.1425G>C (p.Glu475Asp) rs397516755
NM_002471.4(MYH6):c.2368A>G (p.Met790Val) rs764284030
NM_002471.4(MYH6):c.245C>T (p.Pro82Leu) rs529427223
NM_002471.4(MYH6):c.2599A>G (p.Lys867Glu) rs397516759
NM_002471.4(MYH6):c.3181C>A (p.Leu1061Met) rs727503237
NM_002471.4(MYH6):c.3285G>T (p.Lys1095Asn) rs864309578
NM_002471.4(MYH6):c.3324G>T (p.Lys1108Asn) rs727505164
NM_002471.4(MYH6):c.3382C>T (p.Arg1128Cys) rs727505211
NM_002471.4(MYH6):c.3428G>A (p.Arg1143Gln) rs543585784
NM_002471.4(MYH6):c.3437dup (p.Glu1147fs) rs397516761
NM_002471.4(MYH6):c.3447C>G (p.Ser1149Arg) rs564367705
NM_002471.4(MYH6):c.3857A>T (p.Asn1286Ile) rs772586397
NM_002471.4(MYH6):c.3979-7_3979-5del rs397516764
NM_002471.4(MYH6):c.3979-7_3979-6del rs796313537
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC rs727503235
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC rs796876119
NM_002471.4(MYH6):c.3995C>T (p.Ala1332Val) rs876657876
NM_002471.4(MYH6):c.4064C>T (p.Ala1355Val) rs397516767
NM_002471.4(MYH6):c.4175+1G>C rs727505128
NM_002471.4(MYH6):c.4207G>A (p.Glu1403Lys) rs769398160
NM_002471.4(MYH6):c.4360-7C>G rs58949384
NM_002471.4(MYH6):c.4430G>A (p.Arg1477His) rs147586142
NM_002471.4(MYH6):c.4595G>A (p.Arg1532His) rs34330111
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu) rs34330111
NM_002471.4(MYH6):c.5062G>A (p.Glu1688Lys) rs727504739
NM_002471.4(MYH6):c.5296A>G (p.Met1766Val) rs397516776
NM_002471.4(MYH6):c.5700G>C (p.Lys1900Asn) rs397516778
NM_002471.4(MYH6):c.879C>G (p.Asn293Lys) rs752600386
NM_002473.6(MYH9):c.1468GAG[1] (p.Glu491del) rs1556635817
NM_002473.6(MYH9):c.170A>T (p.Glu57Val) rs751041617
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr) rs762745890
NM_002473.6(MYH9):c.3215C>T (p.Ala1072Val) rs1556631812
NM_002473.6(MYH9):c.3272+3G>T rs1238385506
NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu) rs727504829
NM_002473.6(MYH9):c.437T>A (p.Met146Lys) rs727503294
NM_002473.6(MYH9):c.4598A>G (p.Gln1533Arg) rs876657892
NM_002473.6(MYH9):c.5107C>T (p.Arg1703Trp) rs569541375
NM_002473.6(MYH9):c.5225_5239del (p.Gln1742_Glu1746del) rs876657893
NM_002473.6(MYH9):c.5766-13_5766-2dup rs1603482655
NM_002473.6(MYH9):c.637C>T (p.Gln213Ter) rs727503292
NM_002473.6(MYH9):c.659C>T (p.Ala220Val) rs1190062913
NM_002473.6(MYH9):c.859C>T (p.His287Tyr) rs727503291
NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr) rs773998062
NM_002474.3(MYH11):c.3778C>T (p.Gln1260Ter) rs1060499879
NM_002524.5(NRAS):c.368G>A (p.Arg123Lys) rs727503347
NM_002667.5(PLN):c.14A>G (p.Gln5Arg) rs876657954
NM_002667.5(PLN):c.152T>C (p.Leu51Pro) rs397516783
NM_002667.5(PLN):c.2T>C (p.Met1Thr) rs727503374
NM_002667.5(PLN):c.37dup (p.Arg13fs) rs727503375
NM_002667.5(PLN):c.43G>A (p.Ala15Thr) rs397516785
NM_002667.5(PLN):c.67C>G (p.Gln23Glu) rs876657955
NM_002691.4(POLD1):c.1240A>G (p.Lys414Glu) rs1555790592
NM_002691.4(POLD1):c.1735G>A (p.Glu579Lys) rs1354117345
NM_002691.4(POLD1):c.2154+2T>C rs1555792026
NM_002691.4(POLD1):c.2797G>T (p.Val933Leu) rs764785216
NM_002691.4(POLD1):c.2824C>G (p.Pro942Ala) rs1203736050
NM_002691.4(POLD1):c.3023G>A (p.Arg1008His) rs763747258
NM_002691.4(POLD1):c.487G>T (p.Asp163Tyr) rs753299061
NM_002691.4(POLD1):c.632G>A (p.Arg211His) rs373192520
NM_002700.3(POU4F3):c.256G>C (p.Val86Leu) rs1581278182
NM_002700.3(POU4F3):c.491C>T (p.Pro164Leu) rs367737951
NM_002700.3(POU4F3):c.709T>G (p.Ser237Ala) rs876657956
NM_002700.3(POU4F3):c.836C>G (p.Thr279Arg) rs762710510
NM_002700.3(POU4F3):c.856A>G (p.Lys286Glu) rs1760435357
NM_002700.3(POU4F3):c.901T>C (p.Ser301Pro) rs1554087691
NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys) rs149303333
NM_002755.4(MAP2K1):c.323G>A (p.Arg108Gln) rs727504819
NM_002755.4(MAP2K1):c.568+1G>A rs730880505
NM_002755.4(MAP2K1):c.729G>T (p.Gln243His) rs772752167
NM_002755.4(MAP2K1):c.803C>T (p.Ala268Val) rs757459909
NM_002755.4(MAP2K1):c.875C>G (p.Thr292Ser) rs397516794
NM_002772.3(TMPRSS15):c.2042dup (p.Asn682fs) rs1284864421
NM_002834.5(PTPN11):c.119A>G (p.Asp40Gly) rs397516795
NM_002834.5(PTPN11):c.1225-7A>G rs727504397
NM_002834.5(PTPN11):c.1374C>A (p.His458Gln) rs727504393
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) rs397509344
NM_002834.5(PTPN11):c.1724A>G (p.Asp575Gly) rs397516799
NM_002834.5(PTPN11):c.348T>A (p.His116Gln) rs1482410266
NM_002834.5(PTPN11):c.652A>G (p.Thr218Ala) rs768555552
NM_002834.5(PTPN11):c.661A>T (p.Ile221Leu) rs397516806
NM_002834.5(PTPN11):c.858T>A (p.Asp286Glu) rs397516811
NM_002839.4(PTPRD):c.5534+7_5534+8insGGTAAGTTAGTTACAGTTCAAGAAG rs3215098
NM_002880.3(RAF1):c.(?_-26)-50_(1370_?)+72dup
NM_002880.3(RAF1):c.1804-11_1804-7dup rs727503382
NM_002880.4(RAF1):c.-40C>T rs727503385
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_002880.4(RAF1):c.1528C>T (p.Leu510Phe) rs397516816
NM_002880.4(RAF1):c.1708C>G (p.Leu570Val) rs876657966
NM_002880.4(RAF1):c.172A>C (p.Ile58Leu) rs147984543
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) rs773583951
NM_002880.4(RAF1):c.1927C>T (p.Pro643Ser) rs876657967
NM_002880.4(RAF1):c.329C>T (p.Ala110Val) rs397516819
NM_002880.4(RAF1):c.379C>G (p.Gln127Glu) rs397516820
NM_002880.4(RAF1):c.388T>A (p.Phe130Ile) rs397516821
NM_002880.4(RAF1):c.419A>G (p.Asn140Ser) rs876657968
NM_002880.4(RAF1):c.424G>T (p.Ala142Ser) rs1553614748
NM_002880.4(RAF1):c.512A>G (p.Lys171Arg) rs876657969
NM_002880.4(RAF1):c.775T>G (p.Ser259Ala) rs3730271
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_002906.4(RDX):c.119G>T (p.Arg40Leu) rs771175890
NM_002906.4(RDX):c.959+3dup rs397516832
NM_003000.2(SDHB):c.*159_*184delinsGAACCTGTTCCTTTACTTGCCCCAA rs727503414
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.3(SDHB):c.415C>T (p.Leu139Phe) rs397516834
NM_003000.3(SDHB):c.722A>G (p.Tyr241Cys) rs878854582
NM_003000.3(SDHB):c.79C>G (p.Arg27Gly) rs74315369
NM_003238.6(TGFB2):c.739G>A (p.Glu247Lys) rs1558262454
NM_003242.6(TGFBR2):c.-8G>A rs727504344
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro) rs727503473
NM_003242.6(TGFBR2):c.1082_1084del (p.Leu361del) rs727503474
NM_003242.6(TGFBR2):c.118G>A (p.Asp40Asn) rs397516837
NM_003242.6(TGFBR2):c.1282G>C (p.Glu428Gln) rs397516838
NM_003242.6(TGFBR2):c.1418C>A (p.Pro473Gln) rs397516839
NM_003242.6(TGFBR2):c.1570G>T (p.Asp524Tyr) rs727504421
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu) rs376815143
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) rs727504406
NM_003242.6(TGFBR2):c.934G>A (p.Glu312Lys) rs397516841
NM_003280.3(TNNC1):c.157A>G (p.Thr53Ala) rs1553651742
NM_003280.3(TNNC1):c.24+1G>A rs727503498
NM_003280.3(TNNC1):c.394G>A (p.Asp132Asn) rs397516846
NM_003280.3(TNNC1):c.445G>A (p.Asp149Asn) rs397516849
NM_003280.3(TNNC1):c.5A>G (p.Asp2Gly) rs397516850
NM_003280.3(TNNC1):c.74_82del (p.Asp25_Phe27del) rs727503496
NM_003280.3(TNNC1):c.97G>A (p.Asp33Asn) rs727503494
NM_003319.4(TTN):c.13282+23498dup rs727503644
NM_003319.4(TTN):c.19326_19406del (p.Lys6442_His6469delinsAsn) rs1553713878
NM_003319.4(TTN):c.20966-11dup rs730880371
NM_003319.4(TTN):c.53810_53833del (p.Gly17937_Ile17944del) rs727504756
NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser) rs367827746
NM_003476.5(CSRP3):c.282-5_285del rs397516855
NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp) rs876657767
NM_003476.5(CSRP3):c.47C>T (p.Thr16Ile) rs397516857
NM_003476.5(CSRP3):c.509-3_509-2del rs397516858
NM_003476.5(CSRP3):c.539G>T (p.Gly180Val) rs727504899
NM_003476.5(CSRP3):c.579_582del (p.Lys193fs) rs727502946
NM_003573.2(LTBP4):c.304A>G (p.Arg102Gly) rs553283319
NM_003672.4(CDC14A):c.1755+20C>T rs1252516734
NM_003672.4(CDC14A):c.28G>C (p.Gly10Arg) rs571098288
NM_003672.4(CDC14A):c.374C>G (p.Pro125Arg) rs200941208
NM_003672.4(CDC14A):c.394G>T (p.Ala132Ser) rs1664742874
NM_003673.4(TCAP):c.388C>A (p.Arg130Ser) rs374886575
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_003673.4(TCAP):c.493C>G (p.Gln165Glu) rs397516865
NM_003742.4(ABCB11):c.1435-13_1435-8del rs748716950
NM_003803.3(MYOM1):c.1175_1339[3] (p.Asn446_Gly447insValGlyValThrProTyrGlyTyrAlaSerArgPheGluIleHisPheAspAspLysPheAspValSerPheGlyArgGluGlyGluThrMetSerLeuGlyCysArgValValIleThrProGluIleLysHisPheGlnProGluIleGlnTrpTyrArgAsnValGlyValThrProTyrGlyTyrAlaSerArgPheGluIleHisPheAspAspL...(Total 360)) rs1598739432
NM_003803.3(MYOM1):c.[64_66delGTGinsCTC;65T>G]
NM_003803.4(MYOM1):c.1235A>G (p.Asp412Gly) rs767444514
NM_003803.4(MYOM1):c.1668del (p.Trp556fs) rs876657916
NM_003803.4(MYOM1):c.2383C>G (p.Arg795Gly) rs201618512
NM_003803.4(MYOM1):c.335T>G (p.Leu112Trp) rs868781965
NM_003803.4(MYOM1):c.476_479del (p.Ile159fs) rs876657920
NM_003865.3(HESX1):c.511_512del (p.Gln171fs) rs752434998
NM_004004.5(GJB2):c.-208G>T rs1555342246
NM_004004.6(GJB2):c.280C>T (p.His94Tyr) rs1593351383
NM_004004.6(GJB2):c.281A>T (p.His94Leu) rs397516872
NM_004004.6(GJB2):c.350A>G (p.Asp117Gly) rs111033441
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.470T>C (p.Met157Thr) rs727504789
NM_004004.6(GJB2):c.50C>G (p.Ser17Cys) rs28929485
NM_004006.3(DMD):c.*23_*35del rs752332058
NM_004006.3(DMD):c.-10A>T rs1557300175
NM_004006.3(DMD):c.1248A>T (p.Glu416Asp) rs876657777
NM_004006.3(DMD):c.1693A>T (p.Thr565Ser) rs766450050
NM_004006.3(DMD):c.2950-9G>T rs772822759
NM_004006.3(DMD):c.4082G>C (p.Arg1361Thr) rs753639717
NM_004006.3(DMD):c.640G>A (p.Asp214Asn) rs876657781
NM_004006.3(DMD):c.6471TGT[3] (p.Val2159dup) rs1395996899
NM_004006.3(DMD):c.9362-3C>T rs752816247
NM_004085.4(TIMM8A):c.282C>A (p.Ser94Arg) rs1443740723
NM_004100.4(EYA4):c.724_(804_?)del
NM_004100.5(EYA4):c.1097G>A (p.Ser366Asn) rs727503052
NM_004100.5(EYA4):c.1667T>C (p.Leu556Pro) rs1583561006
NM_004100.5(EYA4):c.1739-85_1739-81del rs727503053
NM_004100.5(EYA4):c.374T>C (p.Ile125Thr) rs770929581
NM_004100.5(EYA4):c.829G>C (p.Gly277Arg) rs9493627
NM_004100.5(EYA4):c.902_907dup (p.Gly302_Thr303insAsnGly) rs727503051
NM_004100.5(EYA4):c.96G>A (p.Met32Ile) rs1792872485
NM_004281.4(BAG3):c.1015A>G (p.Ile339Val) rs757353917
NM_004281.4(BAG3):c.1274T>A (p.Val425Glu) rs727502901
NM_004281.4(BAG3):c.200A>G (p.Asn67Ser) rs572036022
NM_004281.4(BAG3):c.317G>A (p.Arg106Gln) rs1200121142
NM_004281.4(BAG3):c.467C>G (p.Ala156Gly) rs572038196
NM_004281.4(BAG3):c.49G>C (p.Gly17Arg) rs727502895
NM_004281.4(BAG3):c.55C>A (p.Arg19Ser) rs727502896
NM_004281.4(BAG3):c.695A>T (p.His232Leu) rs746241240
NM_004281.4(BAG3):c.910-10C>G rs727502899
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln) rs3832799
NM_004316.4(ASCL1):c.151CAG[17] (p.Gln62_Ala63insGlnGlnGlnGlnGln) rs3832799
NM_004333.6(BRAF):c.-95GCCTCC[3] rs727502907
NM_004333.6(BRAF):c.1040G>C (p.Arg347Pro) rs397516884
NM_004333.6(BRAF):c.1055A>G (p.Asp352Gly) rs201882896
NM_004333.6(BRAF):c.1405G>T (p.Gly469Ter) rs121913357
NM_004333.6(BRAF):c.1488A>C (p.Gln496His) rs1554399258
NM_004333.6(BRAF):c.1756G>A (p.Glu586Lys) rs121913340
NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys) rs121913361
NM_004333.6(BRAF):c.469G>A (p.Val157Ile) rs1258111302
NM_004333.6(BRAF):c.527C>T (p.Thr176Ile) rs780556975
NM_004333.6(BRAF):c.653C>G (p.Thr218Ser) rs1554404461
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004387.4(NKX2-5):c.437C>G (p.Ser146Trp) rs397516909
NM_004403.3(GSDME):c.119dup (p.Lys41fs) rs758488919
NM_004409.5(DMPK):c.161-62dup rs751073998
NM_004415.4(DSP):c.1045-8T>A rs201633815
NM_004415.4(DSP):c.1112A>C (p.His371Pro) rs397516912
NM_004415.4(DSP):c.1264G>A (p.Glu422Lys) rs397516914
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.1397T>C (p.Leu466Pro) rs727504661
NM_004415.4(DSP):c.1484T>C (p.Val495Ala) rs727504518
NM_004415.4(DSP):c.1517C>T (p.Pro506Leu) rs876657793
NM_004415.4(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.4(DSP):c.170+11G>T rs727505007
NM_004415.4(DSP):c.170+5G>A rs727502996
NM_004415.4(DSP):c.2758T>C (p.Ser920Pro) rs373804924
NM_004415.4(DSP):c.2794-7T>C rs397516926
NM_004415.4(DSP):c.3119A>G (p.Glu1040Gly) rs727505147
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val) rs397516931
NM_004415.4(DSP):c.3392G>C (p.Arg1131Thr) rs876657794
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.4(DSP):c.3935C>G (p.Ser1312Cys) rs1554108214
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.4156G>A (p.Glu1386Lys) rs397516935
NM_004415.4(DSP):c.4172A>G (p.Tyr1391Cys) rs727504547
NM_004415.4(DSP):c.4288A>T (p.Ile1430Phe) rs397516937
NM_004415.4(DSP):c.4472A>T (p.Asp1491Val) rs397516938
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del) rs397516939
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.4723G>A (p.Glu1575Lys) rs727503002
NM_004415.4(DSP):c.5107A>T (p.Ile1703Phe) rs868035157
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.5757T>G (p.Asp1919Glu) rs727504871
NM_004415.4(DSP):c.5767G>A (p.Glu1923Lys) rs397516948
NM_004415.4(DSP):c.6275C>T (p.Ala2092Val) rs876657796
NM_004415.4(DSP):c.6557T>G (p.Leu2186Arg) rs876657797
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) rs397516952
NM_004415.4(DSP):c.6610C>T (p.Gln2204Ter) rs876657798
NM_004415.4(DSP):c.6853C>A (p.Pro2285Thr) rs377085222
NM_004415.4(DSP):c.6885A>T (p.Gln2295His) rs397516954
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys) rs28931610
NM_004415.4(DSP):c.8020G>A (p.Ala2674Thr) rs397516961
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004415.4(DSP):c.8365A>G (p.Ile2789Val) rs397516965
NM_004415.4(DSP):c.8576_8577del (p.Ser2859fs) rs727504909
NM_004415.4(DSP):c.868G>A (p.Glu290Lys) rs397516974
NM_004415.4(DSP):c.877G>A (p.Glu293Lys) rs876657799
NM_004415.4(DSP):c.895A>G (p.Ser299Gly) rs876657801
NM_004415.4(DSP):c.927G>T (p.Gln309His) rs876657800
NM_004415.4(DSP):c.992A>C (p.Gln331Pro) rs746517026
NM_004447.6(EPS8):c.1396C>T (p.His466Tyr) rs747454900
NM_004447.6(EPS8):c.1789C>A (p.Arg597Ser) rs754905499
NM_004448.4(ERBB2):c.2326_2327insTCT (p.Gly776delinsValCys) rs397516979
NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu) rs121913471
NM_004517.4(ILK):c.1285A>G (p.Met429Val) rs1554900131
NM_004517.4(ILK):c.211del (p.Leu71fs) rs776120061
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004568.6(SERPINB6):c.-3A>G rs779093042
NM_004568.6(SERPINB6):c.1042C>T (p.Arg348Cys) rs774270238
NM_004568.6(SERPINB6):c.251C>T (p.Thr84Met) rs538616923
NM_004568.6(SERPINB6):c.383A>G (p.Glu128Gly) rs1329989490
NM_004568.6(SERPINB6):c.503A>G (p.Tyr168Cys) rs876657997
NM_004612.4(TGFBR1):c.1058_1059insCAATA (p.Leu354fs) rs1060499908
NM_004612.4(TGFBR1):c.203A>G (p.Asn68Ser) rs727503469
NM_004612.4(TGFBR1):c.24del (p.Arg9fs) rs1060499907
NM_004612.4(TGFBR1):c.596G>A (p.Arg199Lys) rs397517032
NM_004612.4(TGFBR1):c.640G>T (p.Gly214Cys) rs727503470
NM_004612.4(TGFBR1):c.779T>A (p.Leu260Gln) rs397517033
NM_004612.4(TGFBR1):c.799A>G (p.Asn267Asp) rs727503471
NM_004612.4(TGFBR1):c.994_999del (p.Arg332_Asp333del) rs727504383
NM_004700.4(KCNQ4):c.1017G>T (p.Arg339Ser) rs769086004
NM_004700.4(KCNQ4):c.1051C>T (p.Arg351Cys) rs1167593525
NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg) rs368294870
NM_004700.4(KCNQ4):c.1283C>T (p.Pro428Leu) rs932108929
NM_004700.4(KCNQ4):c.1406A>G (p.Gln469Arg) rs1553168273
NM_004700.4(KCNQ4):c.1611C>G (p.Ile537Met) rs876657837
NM_004700.4(KCNQ4):c.1801G>T (p.Asp601Tyr) rs876657838
NM_004700.4(KCNQ4):c.1954C>G (p.Leu652Val) rs727505133
NM_004700.4(KCNQ4):c.1957G>A (p.Gly653Ser) rs876657839
NM_004700.4(KCNQ4):c.751T>C (p.Phe251Leu) rs1000705787
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) rs797044966
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) rs956666801
NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) rs727504459
NM_004700.4(KCNQ4):c.857A>G (p.Tyr286Cys) rs876657841
NM_004817.4(TJP2):c.1035C>A (p.His345Gln) rs144213955
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.1444del (p.Asp482fs) rs727503479
NM_004817.4(TJP2):c.2880+4A>G rs727505327
NM_004817.4(TJP2):c.3500G>A (p.Arg1167His) rs370985421
NM_004949.5(DSC2):c.1234dup (p.Thr412fs) rs397517390
NM_004985.5(KRAS):c.-148_-137del rs727504386
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_004985.5(KRAS):c.180T>A (p.Gly60=) rs397517037
NM_004985.5(KRAS):c.228G>A (p.Glu76=) rs727503107
NM_004985.5(KRAS):c.470A>G (p.Tyr157Cys) rs794727720
NM_004993.6(ATXN3):c.916_917insC (p.Gly306fs) rs763461489
NM_004999.4(MYO6):c.1250A>G (p.Asn417Ser) rs1554210769
NM_004999.4(MYO6):c.1264G>A (p.Ala422Thr) rs1583287198
NM_004999.4(MYO6):c.1516G>T (p.Val506Leu) rs1554211583
NM_004999.4(MYO6):c.1881CAA[1] (p.Asn628del) rs1233700794
NM_004999.4(MYO6):c.2107G>C (p.Gly703Arg) rs753163582
NM_004999.4(MYO6):c.2548C>G (p.Leu850Val) rs397517047
NM_004999.4(MYO6):c.2562T>A (p.Asn854Lys) rs1583365903
NM_004999.4(MYO6):c.2779A>G (p.Arg927Gly) rs986223790
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_004999.4(MYO6):c.2911A>G (p.Arg971Gly) rs397517049
NM_004999.4(MYO6):c.292A>G (p.Asn98Asp) rs876657910
NM_004999.4(MYO6):c.3326T>C (p.Leu1109Pro) rs1554222430
NM_004999.4(MYO6):c.3391C>T (p.Pro1131Ser) rs727503327
NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp) rs876657911
NM_004999.4(MYO6):c.3644T>C (p.Ile1215Thr) rs1554223853
NM_004999.4(MYO6):c.3646C>G (p.Leu1216Val) rs876657908
NM_004999.4(MYO6):c.3833C>T (p.Ala1278Val) rs397517052
NM_004999.4(MYO6):c.470A>G (p.Lys157Arg) rs397517053
NM_004999.4(MYO6):c.558C>A (p.Asn186Lys) rs397517054
NM_005159.5(ACTC1):c.*3T>C rs727504415
NM_005159.5(ACTC1):c.1039A>G (p.Ile347Val) rs727505192
NM_005159.5(ACTC1):c.1084C>T (p.Gln362Ter) rs876657738
NM_005159.5(ACTC1):c.186del (p.Ser62fs) rs876657739
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.5(ACTC1):c.355G>C (p.Glu119Gln) rs397517060
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met) rs397517061
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_005159.5(ACTC1):c.475G>A (p.Asp159Asn) rs397517063
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu) rs1555418829
NM_005159.5(ACTC1):c.616+1G>A rs111904141
NM_005159.5(ACTC1):c.635G>A (p.Arg212His) rs397517067
NM_005159.5(ACTC1):c.646G>T (p.Glu216Ter) rs1060499837
NM_005159.5(ACTC1):c.739G>A (p.Gly247Ser) rs727505330
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met) rs371940910
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) rs727504399
NM_005159.5(ACTC1):c.7G>C (p.Asp3His) rs397517069
NM_005159.5(ACTC1):c.808+3G>A rs397517070
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val) rs397517072
NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe) rs397517073
NM_005159.5(ACTC1):c.854T>C (p.Met285Thr) rs869025354
NM_005186.4(CAPN1):c.1919T>G (p.Met640Arg) rs752166957
NM_005188.4(CBL):c.1129A>G (p.Thr377Ala) rs727502914
NM_005188.4(CBL):c.1283_1384del (p.Pro428_Glu461del) rs1555230119
NM_005188.4(CBL):c.1754G>T (p.Arg585Leu) rs727504640
NM_005188.4(CBL):c.2185T>C (p.Cys729Arg) rs1950071650
NM_005188.4(CBL):c.2589C>G (p.Asn863Lys) rs397517081
NM_005219.4(DIAPH1):c.3439-3del rs1335130331
NM_005219.5(DIAPH1):c.1460A>G (p.Lys487Arg) rs1596381751
NM_005219.5(DIAPH1):c.2333A>G (p.Gln778Arg) rs369255077
NM_005219.5(DIAPH1):c.2525A>G (p.Gln842Arg) rs200220260
NM_005219.5(DIAPH1):c.3526C>T (p.Arg1176Trp) rs763106782
NM_005219.5(DIAPH1):c.3704C>G (p.Ser1235Trp) rs761387295
NM_005228.5(EGFR):c.2065G>C (p.Val689Leu) rs397517083
NM_005228.5(EGFR):c.2117T>C (p.Ile706Thr) rs397517084
NM_005228.5(EGFR):c.2126A>C (p.Glu709Ala) rs397517085
NM_005228.5(EGFR):c.2126A>T (p.Glu709Val) rs397517085
NM_005228.5(EGFR):c.2127_2130delinsC (p.Glu709_Thr710delinsAsp) rs397517087
NM_005228.5(EGFR):c.2154G>A (p.Leu718=) rs397517088
NM_005228.5(EGFR):c.2154G>T (p.Leu718=) rs397517088
NM_005228.5(EGFR):c.2192G>A (p.Trp731Ter) rs397517089
NM_005228.5(EGFR):c.2217_2234dup (p.Ile740_Lys745dup) rs397517090
NM_005228.5(EGFR):c.2219T>C (p.Ile740Thr) rs397517092
NM_005228.5(EGFR):c.2239T>C (p.Leu747=) rs397517095
NM_005228.5(EGFR):c.2239_2240delinsCC (p.Leu747Pro) rs397517096
NM_005228.5(EGFR):c.2240T>C (p.Leu747Ser) rs397517097
NM_005228.5(EGFR):c.2247_2264del (p.Glu749_Ala755delinsAsp) rs397517099
NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro) rs121913229
NM_005228.5(EGFR):c.2251_2275del (p.Thr751fs) rs727504284
NM_005228.5(EGFR):c.2252_2277delinsAA (p.Thr751_Ile759delinsLys) rs397517100
NM_005228.5(EGFR):c.2260A>G (p.Lys754Glu) rs397517101
NM_005228.5(EGFR):c.2270A>T (p.Lys757Met) rs397517102
NM_005228.5(EGFR):c.2277_2278insT (p.Leu760fs) rs727503018
NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr) rs121913418
NM_005228.5(EGFR):c.2283+12_2283+147del rs1554348955
NM_005228.5(EGFR):c.2283+1G>A rs397517104
NM_005228.5(EGFR):c.2284-5_2290del rs397517105
NM_005228.5(EGFR):c.2300C>T (p.Ala767Val) rs397517107
NM_005228.5(EGFR):c.2305G>C (p.Val769Leu) rs147149347
NM_005228.5(EGFR):c.2305G>T (p.Val769Leu) rs147149347
NM_005228.5(EGFR):c.2313_2321dup (p.Pro772_Val774dup) rs397517113
NM_005228.5(EGFR):c.2317_2319dup (p.His773dup) rs1554350381
NM_005228.5(EGFR):c.2334G>T (p.Leu778=) rs397517118
NM_005228.5(EGFR):c.2335G>T (p.Gly779Cys) rs397517119
NM_005228.5(EGFR):c.2336G>T (p.Gly779Val) rs397517120
NM_005228.5(EGFR):c.2497T>G (p.Leu833Val) rs397517126
NM_005228.5(EGFR):c.2500G>C (p.Val834Leu) rs397517127
NM_005228.5(EGFR):c.2504A>T (p.His835Leu) rs397517128
NM_005228.5(EGFR):c.2504_2591del (p.His835fs) rs1554353237
NM_005228.5(EGFR):c.2572C>A (p.Leu858Met) rs121913443
NM_005228.5(EGFR):c.2574G>T (p.Leu858=) rs397517129
NM_005228.5(EGFR):c.2580A>T (p.Lys860Asn) rs397517130
NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg) rs121913444
NM_005228.5(EGFR):c.2597A>T (p.Glu866Val) rs397517132
NM_005228.5(EGFR):c.2612C>G (p.Ala871Gly) rs397517134
NM_005228.5(EGFR):c.2642T>C (p.Met881Thr) rs397517136
NM_005228.5(EGFR):c.2654C>T (p.Ser885Leu) rs397517137
NM_005343.4(HRAS):c.401C>T (p.Ala134Val) rs397517141
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser) rs144001095
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp) rs1554884750
NM_005359.6(SMAD4):c.1448-3T>A rs1555687536
NM_005379.4(MYO1A):c.221A>C (p.Lys74Thr) rs727503323
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005379.4(MYO1A):c.2920G>A (p.Glu974Lys) rs370708976
NM_005379.4(MYO1A):c.829G>A (p.Val277Met) rs141826192
NM_005411.5(SFTPA1):c.135C>G (p.Asp45Glu) rs200941736
NM_005411.5(SFTPA1):c.626C>A (p.Thr209Asn) rs1554854656
NM_005411.5(SFTPA1):c.646C>G (p.Pro216Ala) rs876657998
NM_005411.5(SFTPA1):c.677A>G (p.Glu226Gly) rs876657999
NM_005422.4(TECTA):c.187C>T (p.Arg63Cys) rs876658015
NM_005422.4(TECTA):c.1917_1937dup (p.Ser640_Pro646dup) rs1555123919
NM_005422.4(TECTA):c.1966G>A (p.Gly656Ser) rs1555123944
NM_005422.4(TECTA):c.2032G>A (p.Glu678Lys) rs727504744
NM_005422.4(TECTA):c.2378A>G (p.Gln793Arg) rs727503459
NM_005422.4(TECTA):c.2995A>G (p.Thr999Ala) rs1408773314
NM_005422.4(TECTA):c.3925G>A (p.Ala1309Thr) rs727504621
NM_005422.4(TECTA):c.4163G>T (p.Arg1388Leu) rs150016625
NM_005422.4(TECTA):c.4510C>T (p.Arg1504Cys) rs727505218
NM_005422.4(TECTA):c.4527C>G (p.Cys1509Trp) rs727503464
NM_005422.4(TECTA):c.458C>T (p.Thr153Met) rs1555121799
NM_005422.4(TECTA):c.4651G>A (p.Glu1551Lys) rs1452561308
NM_005422.4(TECTA):c.5030G>T (p.Cys1677Phe) rs759579205
NM_005422.4(TECTA):c.5074C>A (p.Leu1692Met) rs1591461270
NM_005422.4(TECTA):c.5086G>A (p.Asp1696Asn) rs1017300729
NM_005422.4(TECTA):c.5549T>G (p.Ile1850Ser) rs1591463453
NM_005422.4(TECTA):c.5717_5718inv (p.Ile1906Arg)
NM_005422.4(TECTA):c.5743A>G (p.Met1915Val) rs749089815
NM_005422.4(TECTA):c.5999G>A (p.Gly2000Glu) rs1591464681
NM_005422.4(TECTA):c.601G>T (p.Gly201Cys) rs727503456
NM_005422.4(TECTA):c.6134G>T (p.Cys2045Phe) rs1555132232
NM_005422.4(TECTA):c.6233G>T (p.Gly2078Val) rs1555132399
NM_005422.4(TECTA):c.6236C>A (p.Pro2079His) rs1555132402
NM_005422.4(TECTA):c.6346G>C (p.Glu2116Gln) rs372023989
NM_005422.4(TECTA):c.721G>A (p.Val241Ile) rs773034636
NM_005422.4(TECTA):c.850C>T (p.Arg284Cys) rs1176214445
NM_005477.3(HCN4):c.3497_3500del (p.Ser1166fs) rs774674047
NM_005548.3(KARS1):c.170A>T (p.Asn57Ile) rs117041419
NM_005548.3(KARS1):c.1732AAG[1] (p.Lys579del) rs753346124
NM_005548.3(KARS1):c.898C>T (p.Pro300Ser) rs1555513082
NM_005619.5(RTN2):c.560-1G>T rs876657982
NM_005633.4(SOS1):c.1412G>A (p.Cys471Tyr) rs397517151
NM_005633.4(SOS1):c.1429C>A (p.Gln477Lys) rs397517152
NM_005633.4(SOS1):c.1433C>T (p.Pro478Leu) rs1553356111
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_005633.4(SOS1):c.2051C>T (p.Pro684Leu) rs397517155
NM_005633.4(SOS1):c.2200A>C (p.Thr734Pro) rs727503437
NM_005633.4(SOS1):c.2489A>T (p.Asn830Ile) rs397517158
NM_005633.4(SOS1):c.2762C>G (p.Ser921Cys) rs1553353332
NM_005633.4(SOS1):c.2918A>T (p.Gln973Leu) rs727505016
NM_005633.4(SOS1):c.3568A>G (p.Lys1190Glu) rs1553349579
NM_005633.4(SOS1):c.3600C>A (p.Asp1200Glu) rs141594736
NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr) rs371408734
NM_005633.4(SOS1):c.373C>A (p.Gln125Lys) rs397517170
NM_005633.4(SOS1):c.3952T>A (p.Ser1318Thr) rs397517171
NM_005633.4(SOS1):c.3971C>G (p.Pro1324Arg) rs727503434
NM_005633.4(SOS1):c.511-12_511-11del rs397517173
NM_005633.4(SOS1):c.512T>G (p.Val171Gly) rs397517174
NM_005633.4(SOS1):c.668T>C (p.Ile223Thr) rs397517176
NM_005912.3(MC4R):c.585C>G (p.Ile195Met) rs1915346892
NM_005932.4(MIPEP):c.1727A>C (p.Gln576Pro) rs1953152428
NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser) rs104894478
NM_005982.4(SIX1):c.487C>G (p.Leu163Val) rs876658002
NM_006005.3(WFS1):c.1020C>G (p.Phe340Leu) rs876658117
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala) rs756869880
NM_006005.3(WFS1):c.1382C>T (p.Thr461Ile) rs71530925
NM_006005.3(WFS1):c.1468A>G (p.Thr490Ala) rs1553878548
NM_006005.3(WFS1):c.1645C>G (p.Leu549Val) rs1801211
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr) rs372783392
NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys) rs376626985
NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu) rs150465110
NM_006005.3(WFS1):c.2032T>G (p.Trp678Gly) rs1578611784
NM_006005.3(WFS1):c.2080G>C (p.Glu694Gln) rs727503751
NM_006005.3(WFS1):c.2278C>A (p.Leu760Met) rs1553878931
NM_006005.3(WFS1):c.2293T>C (p.Cys765Arg) rs727503752
NM_006005.3(WFS1):c.2323T>G (p.Phe775Val) rs727503753
NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu) rs369107336
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp) rs373310972
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met) rs201102144
NM_006005.3(WFS1):c.2430C>G (p.Phe810Leu) rs1553879021
NM_006005.3(WFS1):c.2516T>C (p.Val839Ala) rs761114952
NM_006005.3(WFS1):c.2632G>A (p.Ala878Thr) rs570527044
NM_006005.3(WFS1):c.2638G>C (p.Asp880His) rs776324301
NM_006005.3(WFS1):c.436C>T (p.Arg146Cys) rs1553876694
NM_006005.3(WFS1):c.61C>G (p.Pro21Ala) rs757447631
NM_006005.3(WFS1):c.754A>G (p.Lys252Glu) rs1553877330
NM_006005.3(WFS1):c.881A>T (p.His294Leu) rs727503748
NM_006005.3(WFS1):c.889A>G (p.Met297Val) rs1553878254
NM_006063.3(KLHL41):c.1167T>A (p.Cys389Ter) rs757358433
NM_006073.4(TRDN):c.1369+3dup rs537388823
NM_006073.4(TRDN):c.155T>A (p.Leu52Gln) rs1554258798
NM_006073.4(TRDN):c.2126C>A (p.Ala709Glu) rs876658032
NM_006073.4(TRDN):c.604_610+47del rs1554251571
NM_006121.4(KRT1):c.1510+1G>T rs1429588463
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys) rs397517199
NM_006231.4(POLE):c.1066C>T (p.Pro356Ser) rs1555229220
NM_006231.4(POLE):c.1085A>G (p.Tyr362Cys) rs1368897791
NM_006231.4(POLE):c.167C>T (p.Pro56Leu) rs1555230404
NM_006231.4(POLE):c.1800TGA[3] (p.Asp601dup) rs1593793500
NM_006231.4(POLE):c.1858C>T (p.Pro620Ser) rs979085449
NM_006231.4(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2090C>T (p.Pro697Leu) rs36120395
NM_006231.4(POLE):c.2908G>A (p.Gly970Ser) rs1480250083
NM_006231.4(POLE):c.3331C>T (p.Arg1111Trp) rs774028311
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.3863C>T (p.Ala1288Val) rs1467975024
NM_006231.4(POLE):c.4892G>T (p.Arg1631Leu) rs775590365
NM_006231.4(POLE):c.5552+1G>A rs1555221894
NM_006231.4(POLE):c.6016G>T (p.Ala2006Ser) rs1328375671
NM_006231.4(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) rs141361084
NM_006383.4(CIB2):c.557G>A (p.Arg186Gln) rs1281648597
NM_006393.2(NEBL):c.(?_1228)-240_(1338_?)+281del
NM_006393.3(NEBL):c.1028A>G (p.Tyr343Cys) rs876657925
NM_006393.3(NEBL):c.1496T>G (p.Met499Arg) rs727504620
NM_006393.3(NEBL):c.1963-3C>T rs727504683
NM_006393.3(NEBL):c.2176G>A (p.Ala726Thr) rs397517205
NM_006393.3(NEBL):c.2499G>T (p.Arg833Ser) rs727505285
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu) rs139809958
NM_006393.3(NEBL):c.625G>T (p.Ala209Ser) rs142138590
NM_006644.4(HSPH1):c.1030G>T (p.Ala344Ser) rs774955562
NM_006735.4(HOXA2):c.50C>A (p.Ser17Ter) rs2128035269
NM_006767.4(LZTR1):c.689A>C (p.Asn230Thr) rs752439876
NM_006772.3(SYNGAP1):c.3557C>T (p.Ser1186Leu) rs1554122485
NM_006783.4(GJB6):c.(?_-885)_(-16_?)+61dup
NM_006846.4(SPINK5):c.2740-127_2740-126del rs797045108
NM_006912.6(RIT1):c.604A>T (p.Ser202Cys) rs876657981
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006941.4(SOX10):c.191A>T (p.Asp64Val) rs372400283
NM_006941.4(SOX10):c.313A>C (p.Lys105Gln) rs876658005
NM_007078.3(LDB3):c.*13G>T rs397517207
NM_007078.3(LDB3):c.10A>C (p.Ser4Arg) rs727505295
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1]) rs397517209
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[3] (p.434APAYTPSP[3]) rs397517209
NM_007078.3(LDB3):c.1471G>T (p.Val491Leu) rs397517215
NM_007078.3(LDB3):c.1475C>T (p.Thr492Ile) rs397517216
NM_007078.3(LDB3):c.1586C>G (p.Pro529Arg) rs397517217
NM_007078.3(LDB3):c.1607T>C (p.Val536Ala) rs727503128
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His) rs727503131
NM_007078.3(LDB3):c.1907G>A (p.Cys636Tyr) rs397517218
NM_007078.3(LDB3):c.200A>G (p.Asn67Ser) rs727504500
NM_007078.3(LDB3):c.2078C>A (p.Thr693Asn) rs397517219
NM_007078.3(LDB3):c.2155A>G (p.Lys719Glu) rs397517220
NM_007078.3(LDB3):c.236C>G (p.Thr79Ser) rs397517221
NM_007078.3(LDB3):c.529dup (p.Ala177fs) rs730880345
NM_007078.3(LDB3):c.530C>A (p.Ala177Asp) rs397517224
NM_007078.3(LDB3):c.789G>A (p.Trp263Ter) rs876657847
NM_007078.3(LDB3):c.859+3G>A rs376313045
NM_007078.3(LDB3):c.860-15C>T rs727503126
NM_007078.3(LDB3):c.860-22_860-12del rs727504602
NM_007078.3(LDB3):c.899C>A (p.Thr300Asn) rs397517228
NM_007078.3(LDB3):c.93+1G>T rs727505066
NM_007118.4(TRIO):c.3562A>G (p.Thr1188Ala) rs1746074176
NM_007294.4(BRCA1):c.301+1G>A rs587782173
NM_007294.4(BRCA1):c.594-1G>T rs757781708
NM_012092.4(ICOS):c.189C>A (p.Cys63Ter) rs537195517
NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu) rs727502978
NM_012144.4(DNAI1):c.645_647delinsCCT (p.Pro216Leu) rs876657783
NM_012208.4(HARS2):c.-2C>T rs574815775
NM_012208.4(HARS2):c.165TAT[1] (p.Ile57del) rs876657829
NM_012208.4(HARS2):c.838C>G (p.Leu280Val) rs1439213535
NM_012233.3(RAB3GAP1):c.2773C>T (p.Gln925Ter) rs1573622710
NM_012330.4(KAT6B):c.5279C>A (p.Pro1760Gln) rs1385883942
NM_012330.4(KAT6B):c.5962A>G (p.Thr1988Ala) rs1846260900
NM_013296.5(GPSM2):c.831C>G (p.Asp277Glu) rs876657828
NM_014000.3(VCL):c.1198G>T (p.Gly400Cys) rs201361282
NM_014000.3(VCL):c.1390A>C (p.Lys464Gln) rs200710859
NM_014000.3(VCL):c.1575A>C (p.Glu525Asp) rs548487697
NM_014000.3(VCL):c.1639C>T (p.Arg547Ter) rs397517234
NM_014000.3(VCL):c.1792G>A (p.Val598Ile) rs397517235
NM_014000.3(VCL):c.1888G>A (p.Ala630Thr) rs727503739
NM_014000.3(VCL):c.1973T>C (p.Val658Ala) rs372691803
NM_014000.3(VCL):c.2672G>C (p.Gly891Ala) rs727503740
NM_014000.3(VCL):c.2775_2780del (p.Gly926_Val927del) rs757018106
NM_014000.3(VCL):c.2949+1del rs2131937426
NM_014000.3(VCL):c.3115C>T (p.Gln1039Ter) rs727503741
NM_014000.3(VCL):c.3163C>T (p.Arg1055Ter) rs727505159
NM_014000.3(VCL):c.31A>G (p.Ser11Gly) rs397517240
NM_014000.3(VCL):c.3236T>C (p.Ile1079Thr) rs727503742
NM_014000.3(VCL):c.500-5C>G rs397517243
NM_014000.3(VCL):c.565G>C (p.Val189Leu) rs151045204
NM_014000.3(VCL):c.622+4C>G rs201020802
NM_014000.3(VCL):c.649A>G (p.Asn217Asp) rs727505216
NM_014270.5(SLC7A9):c.1399+4_1399+7del rs747593886
NM_014391.3(ANKRD1):c.140C>T (p.Thr47Ile) rs727502891
NM_014391.3(ANKRD1):c.222dup (p.Leu75fs) rs776659587
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp) rs74315433
NM_014739.3(BCLAF1):c.2397+1G>C rs879165205
NM_014908.4(DOLK):c.196C>T (p.Gln66Ter) rs876657785
NM_015030.2(FRYL):c.2557_2558insAA (p.Thr853fs) rs1578191374
NM_015141.4(GPD1L):c.352_353insC (p.Ile118fs) rs1060499860
NM_015141.4(GPD1L):c.354_355insGAGTT (p.Thr119fs) rs1060499861
NM_015141.4(GPD1L):c.745G>A (p.Val249Met) rs148464224
NM_015158.5(KANK1):c.1038C>G (p.Tyr346Ter) rs1060499870
NM_015340.4(LARS2):c.1753A>G (p.Lys585Glu) rs1181180156
NM_015340.4(LARS2):c.416C>T (p.Ala139Val) rs1553628118
NM_015404.4(WHRN):c.1126G>T (p.Ala376Ser) rs545251395
NM_015404.4(WHRN):c.14T>C (p.Leu5Pro) rs1554747807
NM_015404.4(WHRN):c.2364G>T (p.Arg788Ser) rs1441372523
NM_015404.4(WHRN):c.2418+3G>A rs876657772
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) rs727504817
NM_015404.4(WHRN):c.2621G>C (p.Gly874Ala) rs756466784
NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln) rs727505255
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala) rs572312301
NM_015404.4(WHRN):c.640C>G (p.Leu214Val) rs1554735418
NM_015404.4(WHRN):c.676G>C (p.Gly226Arg) rs727502955
NM_015404.4(WHRN):c.75CGG[2] (p.Gly29del) rs757435431
NM_015404.4(WHRN):c.914A>G (p.Tyr305Cys) rs1589199689
NM_015404.4(WHRN):c.943G>C (p.Ala315Pro) rs876657774
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp) rs143165834
NM_015488.5(PNKD):c.43dup (p.Ala15fs) rs777779692
NM_015512.5(DNAH1):c.4085G>T (p.Arg1362Leu) rs201355893
NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs) rs1454064691
NM_016111.4(TELO2):c.2291+1G>A rs76038845
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile) rs727504707
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg) rs121908988
NM_016203.4(PRKAG2):c.1152A>T (p.Arg384Ser) rs397517262
NM_016203.4(PRKAG2):c.1212C>G (p.Ile404Met) rs876657962
NM_016203.4(PRKAG2):c.467-10T>G rs727503378
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys) rs397517273
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs) rs397517275
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys) rs397517277
NM_016203.4(PRKAG2):c.722G>A (p.Gly241Asp) rs397517280
NM_016203.4(PRKAG2):c.826A>G (p.Thr276Ala) rs727505340
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile) rs397517282
NM_016239.4(MYO15A):c.10217-3C>T rs727503321
NM_016239.4(MYO15A):c.10228G>C (p.Ala3410Pro) rs755643067
NM_016239.4(MYO15A):c.1103_1105del (p.Tyr368del) rs876657896
NM_016239.4(MYO15A):c.1444C>G (p.Arg482Gly) rs867369805
NM_016239.4(MYO15A):c.3217G>A (p.Ala1073Thr) rs1597758153
NM_016239.4(MYO15A):c.3295C>T (p.Pro1099Ser) rs765396397
NM_016239.4(MYO15A):c.3299T>A (p.Leu1100Gln) rs1555540034
NM_016239.4(MYO15A):c.349_357del (p.Tyr117_Arg119del) rs876657898
NM_016239.4(MYO15A):c.3842G>C (p.Gly1281Ala) rs1555541136
NM_016239.4(MYO15A):c.4091_4099del (p.Arg1364_Asp1366del) rs1597777612
NM_016239.4(MYO15A):c.4109G>A (p.Arg1370His) rs771676248
NM_016239.4(MYO15A):c.420G>T (p.Lys140Asn) rs1555537961
NM_016239.4(MYO15A):c.4607G>T (p.Arg1536Leu) rs201423655
NM_016239.4(MYO15A):c.4656-11del rs767773802
NM_016239.4(MYO15A):c.4945C>T (p.Leu1649Phe) rs1257912388
NM_016239.4(MYO15A):c.5804G>T (p.Arg1935Leu) rs876657900
NM_016239.4(MYO15A):c.5925G>T (p.Trp1975Cys) rs375290498
NM_016239.4(MYO15A):c.6273+5G>T rs1597797058
NM_016239.4(MYO15A):c.6378G>C (p.Glu2126Asp) rs1597798474
NM_016239.4(MYO15A):c.6490T>G (p.Phe2164Val) rs727505225
NM_016239.4(MYO15A):c.6620C>T (p.Pro2207Leu) rs876657903
NM_016239.4(MYO15A):c.6969C>G (p.Asn2323Lys) rs1555545724
NM_016239.4(MYO15A):c.7533_7553dup (p.Val2512_Pro2518dup) rs1555546066
NM_016239.4(MYO15A):c.8051A>G (p.Tyr2684Cys) rs1181143893
NM_016239.4(MYO15A):c.8215G>C (p.Ala2739Pro) rs748969088
NM_016239.4(MYO15A):c.8329T>C (p.Phe2777Leu) rs876657905
NM_016239.4(MYO15A):c.8602-8_8602-5del rs876657907
NM_016239.4(MYO15A):c.9161C>T (p.Pro3054Leu) rs1431217758
NM_016239.4(MYO15A):c.9517+3G>T rs727503319
NM_016239.4(MYO15A):c.9619C>T (p.Arg3207Cys) rs1387363252
NM_016239.4(MYO15A):c.9686G>A (p.Cys3229Tyr) rs780798446
NM_016239.4(MYO15A):c.9997C>G (p.Arg3333Gly) rs765670344
NM_016599.4(MYOZ2):c.(?_1)_(76_?)dup (p.(?))
NM_016599.5(MYOZ2):c.-3A>G rs372377840
NM_016599.5(MYOZ2):c.191G>A (p.Arg64Lys) rs1553958177
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg) rs76757102
NM_016599.5(MYOZ2):c.447A>T (p.Gln149His) rs200077093
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp) rs372215131
NM_016599.5(MYOZ2):c.77-14A>G rs397517291
NM_017433.5(MYO3A):c.1359+1G>T rs756836048
NM_017433.5(MYO3A):c.1643C>T (p.Pro548Leu) rs143918373
NM_017433.5(MYO3A):c.168+3_168+4del rs2130551945
NM_017433.5(MYO3A):c.2039A>C (p.Lys680Thr) rs1589000062
NM_017433.5(MYO3A):c.2405A>G (p.Gln802Arg) rs727503324
NM_017433.5(MYO3A):c.2890G>A (p.Asp964Asn) rs1554836048
NM_017433.5(MYO3A):c.3040A>G (p.Met1014Val) rs1324018685
NM_017433.5(MYO3A):c.3253A>G (p.Ser1085Gly) rs1191332923
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly) rs727504688
NM_017433.5(MYO3A):c.585+3C>T rs200381660
NM_017433.5(MYO3A):c.731+4_731+5insTA rs727505119
NM_017617.5(NOTCH1):c.4319T>C (p.Ile1440Thr) rs778742968
NM_017780.4(CHD7):c.760C>G (p.Gln254Glu) rs1554581354
NM_017780.4(CHD7):c.7975G>A (p.Gly2659Ser) rs1806047983
NM_017780.4(CHD7):c.8362G>C (p.Asp2788His) rs373204105
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs) rs1456129845
NM_017841.4(SDHAF2):c.363G>A (p.Trp121Ter) rs1060499901
NM_017841.4(SDHAF2):c.446_447del (p.Lys149fs) rs772219112
NM_017950.4(CCDC40):c.1480C>T (p.Arg494Cys) rs200858130
NM_018139.3(DNAAF2):c.1586A>C (p.Gln529Pro) rs777210474
NM_018406.7(MUC4):c.5879C>G (p.Ser1960Ter) rs558165743
NM_018451.5(CENPJ):c.3217-2A>G rs1555295400
NM_020297.4(ABCC9):c.-14_-8del rs746420722
NM_020297.4(ABCC9):c.1142T>A (p.Ile381Asn) rs397517181
NM_020297.4(ABCC9):c.1358G>C (p.Gly453Ala) rs397517183
NM_020297.4(ABCC9):c.2000C>A (p.Thr667Lys) rs397517186
NM_020297.4(ABCC9):c.2644-11G>C rs61926078
NM_020297.4(ABCC9):c.2746C>T (p.Arg916Trp) rs533032970
NM_020297.4(ABCC9):c.3315+4A>G rs727504847
NM_020297.4(ABCC9):c.4196dup (p.Ser1400fs) rs730880370
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.573+6T>C rs397517192
NM_020433.5(JPH2):c.1655C>T (p.Pro552Leu) rs876657833
NM_020433.5(JPH2):c.376G>A (p.Gly126Arg) rs876657834
NM_020433.5(JPH2):c.497T>G (p.Leu166Arg) rs876657835
NM_020433.5(JPH2):c.511_516dup (p.Ser171_Asn172dup) rs864309612
NM_020877.5(DNAH2):c.4453G>C (p.Asp1485His) rs1060499854
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro) rs536486113
NM_020975.6(RET):c.3237_3238del (p.Arg1079fs) rs1060499895
NM_020975.6(RET):c.947G>T (p.Ser316Ile) rs1060499894
NM_021116.4(ADCY1):c.2817+5G>A rs1584344150
NM_021116.4(ADCY1):c.3262C>A (p.Pro1088Thr) rs548312101
NM_021167.5(GATAD1):c.166GGC[5] (p.Gly59dup) rs876657812
NM_021167.5(GATAD1):c.249+2T>C rs876657813
NM_021167.5(GATAD1):c.376-13dup rs876657814
NM_021167.5(GATAD1):c.537C>G (p.Cys179Trp) rs727503061
NM_022114.4(PRDM16):c.1081G>A (p.Val361Met) rs876657957
NM_022114.4(PRDM16):c.2089G>T (p.Ala697Ser) rs779334537
NM_022114.4(PRDM16):c.2521_2526dup (p.Gln841_Val842dup) rs776728016
NM_022114.4(PRDM16):c.2809_2810dup (p.Thr938fs) rs876657961
NM_022114.4(PRDM16):c.3821A>G (p.Asn1274Ser) rs1553180695
NM_022124.5(CDH23):c.[7762G>C;7764G>T]
NM_022124.6(CDH23):c.1134+26G>A rs2132520415
NM_022124.6(CDH23):c.1373C>T (p.Pro458Leu) rs1554850744
NM_022124.6(CDH23):c.137C>A (p.Thr46Lys) rs727504613
NM_022124.6(CDH23):c.1542CAT[1] (p.Ile515del) rs727502922
NM_022124.6(CDH23):c.1853A>G (p.Tyr618Cys) rs778493031
NM_022124.6(CDH23):c.2096A>T (p.Asp699Val) rs1554856028
NM_022124.6(CDH23):c.2289+6T>G rs727502924
NM_022124.6(CDH23):c.2330C>A (p.Thr777Lys) rs199709482
NM_022124.6(CDH23):c.2954-5del rs766850828
NM_022124.6(CDH23):c.3028C>A (p.Arg1010Ser) rs727505173
NM_022124.6(CDH23):c.3067G>A (p.Asp1023Asn) rs1064796283
NM_022124.6(CDH23):c.3106+4C>T rs1900497
NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu) rs377100683
NM_022124.6(CDH23):c.3299C>T (p.Pro1100Leu) rs876657753
NM_022124.6(CDH23):c.3326C>T (p.Ala1109Val) rs727504705
NM_022124.6(CDH23):c.3566G>T (p.Arg1189Leu) rs876657755
NM_022124.6(CDH23):c.367G>A (p.Gly123Arg) rs727504513
NM_022124.6(CDH23):c.3712T>G (p.Ser1238Ala) rs764805425
NM_022124.6(CDH23):c.4104+22G>T rs727502926
NM_022124.6(CDH23):c.4396G>T (p.Ala1466Ser) rs1554864704
NM_022124.6(CDH23):c.4555G>C (p.Asp1519His) rs397517330
NM_022124.6(CDH23):c.4879G>A (p.Glu1627Lys) rs755926639
NM_022124.6(CDH23):c.5219A>T (p.Asn1740Ile) rs397517336
NM_022124.6(CDH23):c.5668A>T (p.Ile1890Phe) rs1841063934
NM_022124.6(CDH23):c.5674G>A (p.Ala1892Thr) rs727505054
NM_022124.6(CDH23):c.5789A>G (p.Asp1930Gly) rs763582705
NM_022124.6(CDH23):c.5821G>A (p.Asp1941Asn) rs1589421960
NM_022124.6(CDH23):c.5869_5874del (p.Pro1957_Leu1958del) rs397517345
NM_022124.6(CDH23):c.6011G>A (p.Gly2004Asp) rs745568647
NM_022124.6(CDH23):c.6253+4A>G rs1554874375
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) rs537236734
NM_022124.6(CDH23):c.6713G>C (p.Gly2238Ala) rs727502928
NM_022124.6(CDH23):c.6718G>A (p.Val2240Ile) rs727504694
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_022124.6(CDH23):c.7442C>G (p.Pro2481Arg) rs397517351
NM_022124.6(CDH23):c.7501G>A (p.Asp2501Asn) rs397517352
NM_022124.6(CDH23):c.754-3dup rs730880346
NM_022124.6(CDH23):c.7651C>G (p.Pro2551Ala) rs548188123
NM_022124.6(CDH23):c.7661-14G>C rs767603792
NM_022124.6(CDH23):c.781A>C (p.Ile261Leu) rs876657757
NM_022124.6(CDH23):c.8065C>T (p.Leu2689Phe) rs759319741
NM_022124.6(CDH23):c.8283C>G (p.Asn2761Lys) rs397517357
NM_022124.6(CDH23):c.8322GAA[1] (p.Lys2775del) rs876657758
NM_022124.6(CDH23):c.8650_8667del (p.Ser2884_His2889del) rs397517359
NM_022124.6(CDH23):c.8710G>A (p.Val2904Ile) rs746121407
NM_022124.6(CDH23):c.8792A>C (p.Asp2931Ala) rs727502934
NM_022124.6(CDH23):c.9086A>C (p.Gln3029Pro) rs397517365
NM_022124.6(CDH23):c.9278+2dup rs727502935
NM_022124.6(CDH23):c.9283A>G (p.Lys3095Glu) rs876657760
NM_022124.6(CDH23):c.9746A>G (p.Gln3249Arg) rs876657761
NM_022489.4(INF2):c.2019_2022del (p.Lys673fs) rs1060499868
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024334.3(TMEM43):c.163-1G>C rs1060499911
NM_024334.3(TMEM43):c.392+4A>G rs397517382
NM_024334.3(TMEM43):c.486_489del (p.Asp162fs) rs1060499910
NM_024334.3(TMEM43):c.583+3A>G rs876658021
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln) rs769969149
NM_024334.3(TMEM43):c.850C>G (p.Leu284Val) rs727504764
NM_024422.6(DSC2):c.1001G>T (p.Gly334Val) rs397517388
NM_024422.6(DSC2):c.1028_1030del (p.Ile343del) rs1555639121
NM_024422.6(DSC2):c.1077+2T>G rs397517389
NM_024422.6(DSC2):c.2059G>C (p.Gly687Arg) rs199616533
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2174C>T (p.Pro725Leu) rs876657788
NM_024422.6(DSC2):c.2263G>A (p.Gly755Ser) rs727502979
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu) rs61731921
NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser) rs565136635
NM_024422.6(DSC2):c.2398del (p.Ala800fs) rs397517399
NM_024422.6(DSC2):c.474+5C>A rs397517400
NM_024422.6(DSC2):c.574A>C (p.Thr192Pro) rs876657789
NM_024422.6(DSC2):c.584T>C (p.Leu195Ser) rs876657787
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys) rs142331975
NM_024422.6(DSC2):c.721C>T (p.Pro241Ser) rs727505169
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del) rs776784065
NM_024422.6(DSC2):c.799G>C (p.Ala267Pro) rs966660258
NM_024422.6(DSC2):c.824C>A (p.Thr275Lys) rs397517404
NM_024422.6(DSC2):c.844T>C (p.Tyr282His) rs397517405
NM_024747.6(HPS6):c.1261C>G (p.Leu421Val) rs1590263556
NM_024818.6(UBA5):c.813G>C (p.Lys271Asn) rs1576652827
NM_024915.4(GRHL2):c.1723G>A (p.Val575Met) rs370196002
NM_024915.4(GRHL2):c.1764-12C>G rs371424751
NM_024915.4(GRHL2):c.319T>A (p.Leu107Met) rs1048525846
NM_024915.4(GRHL2):c.449T>G (p.Ile150Ser) rs727504883
NM_024915.4(GRHL2):c.974A>C (p.His325Pro) rs1586112160
NM_030632.3(ASXL3):c.3547C>G (p.Gln1183Glu) rs1599571554
NM_030662.4(MAP2K2):c.169T>A (p.Phe57Ile) rs121434498
NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn) rs886041310
NM_030662.4(MAP2K2):c.287_288delinsGT (p.Leu96Arg) rs397517412
NM_030662.4(MAP2K2):c.320T>A (p.Ile107Asn) rs1555698037
NM_030662.4(MAP2K2):c.32C>G (p.Ala11Gly) rs1555699410
NM_030662.4(MAP2K2):c.383C>G (p.Pro128Arg) rs267607230
NM_030662.4(MAP2K2):c.578G>A (p.Arg193Gln) rs530342723
NM_030662.4(MAP2K2):c.706-1_706delinsTT rs1599287155
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg) rs368064728
NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del) rs763469132
NM_030782.5(CLPTM1L):c.220G>C (p.Val74Leu) rs200649005
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_031427.4(DNAL1):c.-14T>G rs876657784
NM_031475.3(ESPN):c.382G>T (p.Gly128Cys) rs145666801
NM_031475.3(ESPN):c.871C>G (p.Leu291Val) rs1348183531
NM_032119.3(ADGRV1):c.(?_17020)-19_(17856_?)+58dup
NM_032119.4(ADGRV1):c.-11G>A rs727504484
NM_032119.4(ADGRV1):c.11178T>A (p.Asp3726Glu) rs1554104329
NM_032119.4(ADGRV1):c.11426T>A (p.Leu3809His) rs368086521
NM_032119.4(ADGRV1):c.12283G>A (p.Glu4095Lys) rs876657818
NM_032119.4(ADGRV1):c.12332T>C (p.Val4111Ala) rs1554111603
NM_032119.4(ADGRV1):c.1237A>C (p.Arg413=) rs1554064773
NM_032119.4(ADGRV1):c.12506A>G (p.Tyr4169Cys) rs577389548
NM_032119.4(ADGRV1):c.12830G>T (p.Arg4277Leu) rs571603222
NM_032119.4(ADGRV1):c.12849+5_12849+6insAA rs1554113222
NM_032119.4(ADGRV1):c.13072C>T (p.Leu4358Phe) rs1554113480
NM_032119.4(ADGRV1):c.13201G>A (p.Glu4401Lys) rs876657819
NM_032119.4(ADGRV1):c.13712A>G (p.Asp4571Gly) rs876657820
NM_032119.4(ADGRV1):c.14496C>A (p.Asp4832Glu) rs753803615
NM_032119.4(ADGRV1):c.14719G>A (p.Val4907Ile) rs373391623
NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe) rs373391623
NM_032119.4(ADGRV1):c.15893C>T (p.Thr5298Ile) rs369030097
NM_032119.4(ADGRV1):c.16010G>A (p.Gly5337Glu) rs1475775451
NM_032119.4(ADGRV1):c.16931T>C (p.Leu5644Pro) rs879250689
NM_032119.4(ADGRV1):c.16989A>T (p.Gln5663His) rs1765372607
NM_032119.4(ADGRV1):c.17092C>G (p.Leu5698Val) rs727503084
NM_032119.4(ADGRV1):c.1711A>G (p.Lys571Glu) rs397517425
NM_032119.4(ADGRV1):c.17205-10T>G rs876657821
NM_032119.4(ADGRV1):c.17777C>T (p.Ser5926Phe) rs1554139681
NM_032119.4(ADGRV1):c.17856+4G>A rs727505212
NM_032119.4(ADGRV1):c.18141T>G (p.Ile6047Met) rs888089676
NM_032119.4(ADGRV1):c.18211T>A (p.Cys6071Ser) rs1554214818
NM_032119.4(ADGRV1):c.3370G>A (p.Glu1124Lys) rs876657825
NM_032119.4(ADGRV1):c.3841G>A (p.Val1281Ile) rs1294773650
NM_032119.4(ADGRV1):c.3978T>A (p.Asp1326Glu) rs546224817
NM_032119.4(ADGRV1):c.4094C>A (p.Ala1365Asp) rs397517430
NM_032119.4(ADGRV1):c.425A>G (p.Asn142Ser) rs727504665
NM_032119.4(ADGRV1):c.5102A>G (p.His1701Arg) rs876657826
NM_032119.4(ADGRV1):c.5104C>T (p.Pro1702Ser) rs535038304
NM_032119.4(ADGRV1):c.6161G>A (p.Ser2054Asn) rs558843030
NM_032119.4(ADGRV1):c.6290G>T (p.Arg2097Leu) rs572910896
NM_032119.4(ADGRV1):c.7150C>T (p.Arg2384Trp) rs377475657
NM_032119.4(ADGRV1):c.7452A>T (p.Lys2484Asn) rs397517437
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu) rs191036195
NM_032119.4(ADGRV1):c.7954A>G (p.Lys2652Glu) rs1747265965
NM_032119.4(ADGRV1):c.8155+4G>T rs397517438
NM_032119.4(ADGRV1):c.8386G>C (p.Gly2796Arg) rs1554088629
NM_032119.4(ADGRV1):c.9557C>A (p.Thr3186Asn) rs201511311
NM_032119.4(ADGRV1):c.9590T>C (p.Leu3197Ser) rs727504685
NM_032119.4(ADGRV1):c.9746T>C (p.Met3249Thr) rs1750855092
NM_032229.3(SLITRK6):c.1492C>T (p.Pro498Ser) rs755925837
NM_032229.3(SLITRK6):c.2414A>G (p.Tyr805Cys) rs1874622846
NM_032380.5(GFM2):c.13_14del (p.Leu5fs) rs1412568004
NM_032578.4(MYPN):c.1132A>C (p.Ile378Leu) rs1554842686
NM_032578.4(MYPN):c.1741G>C (p.Val581Leu) rs1464184643
NM_032578.4(MYPN):c.2443A>G (p.Ile815Val) rs876657922
NM_032578.4(MYPN):c.2756G>A (p.Arg919His) rs193022869
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.4(MYPN):c.54G>C (p.Glu18Asp) rs876657919
NM_032578.4(MYPN):c.637A>G (p.Ile213Val) rs199476402
NM_032578.4(MYPN):c.785A>G (p.Glu262Gly) rs876657924
NM_032578.4(MYPN):c.893C>T (p.Pro298Leu) rs2042258631
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) rs786205457
NM_032830.3(UTP4):c.1372C>T (p.Gln458Ter) rs1060499849
NM_033026.6(PCLO):c.7272C>T (p.Pro2424=) rs1060499888
NM_033056.4(PCDH15):c.4592A>G (p.Glu1531Gly) rs397517460
NM_033056.4(PCDH15):c.4599_4602dup (p.Gln1535fs) rs781231890
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del) rs397517463
NM_033056.4(PCDH15):c.5338C>T (p.Pro1780Ser) rs751914445
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1]) rs779691085
NM_033056.4(PCDH15):c.5422C>A (p.Pro1808Thr) rs727505235
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) rs750168790
NM_033118.4(MYLK2):c.1016A>G (p.His339Arg) rs397517471
NM_033118.4(MYLK2):c.1669C>G (p.Gln557Glu) rs763971356
NM_033118.4(MYLK2):c.16G>A (p.Gly6Arg) rs727503302
NM_033118.4(MYLK2):c.1711-4C>T rs372190501
NM_033118.4(MYLK2):c.1741C>T (p.Arg581Cys) rs766199082
NM_033118.4(MYLK2):c.277C>A (p.Pro93Thr) rs397517473
NM_033118.4(MYLK2):c.344A>C (p.Gln115Pro) rs727504681
NM_033118.4(MYLK2):c.802C>T (p.Pro268Ser) rs397517475
NM_033360.4(KRAS):c.261del (p.Lys88fs) rs397517038
NM_033380.3(COL4A5):c.1559C>T (p.Ala520Val) rs2066528784
NM_033380.3(COL4A5):c.40T>G (p.Leu14Val) rs760570519
NM_033409.4(SLC52A3):c.94A>T (p.Met32Leu) rs751913684
NM_053025.4(MYLK):c.2938dup (p.Asp980fs) rs1553803719
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_057176.3(BSND):c.10G>A (p.Glu4Lys) rs121908145
NM_057176.3(BSND):c.197A>G (p.Asp66Gly) rs1570272506
NM_057176.3(BSND):c.393G>T (p.Leu131Phe) rs201387711
NM_057176.3(BSND):c.409G>C (p.Gly137Arg) rs749600956
NM_057176.3(BSND):c.821A>C (p.Lys274Thr) rs547338387
NM_057176.3(BSND):c.859G>T (p.Glu287Ter) rs376784896
NM_080680.3(COL11A2):c.1119+1G>C rs367706373
NM_080680.3(COL11A2):c.1427C>T (p.Ala476Val) rs373983482
NM_080680.3(COL11A2):c.1557+5C>T rs771087374
NM_080680.3(COL11A2):c.1678T>G (p.Phe560Val) rs876657764
NM_080680.3(COL11A2):c.1817C>G (p.Ser606Trp) rs147328015
NM_080680.3(COL11A2):c.1872+5G>A rs727504891
NM_080680.3(COL11A2):c.2065C>T (p.Pro689Ser) rs766440021
NM_080680.3(COL11A2):c.2516A>T (p.Glu839Val) rs1770531178
NM_080680.3(COL11A2):c.2758C>A (p.Pro920Thr) rs727502940
NM_080680.3(COL11A2):c.2983A>G (p.Thr995Ala) rs1554217436
NM_080680.3(COL11A2):c.3031C>G (p.Pro1011Ala) rs997533180
NM_080680.3(COL11A2):c.3313-3C>T rs755108811
NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser) rs372806452
NM_080680.3(COL11A2):c.3556G>A (p.Gly1186Ser) rs876657765
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser) rs374515005
NM_080680.3(COL11A2):c.4610C>T (p.Pro1537Leu) rs1554212071
NM_080680.3(COL11A2):c.4786C>T (p.Arg1596Trp) rs778962979
NM_080680.3(COL11A2):c.5150A>T (p.Asp1717Val) rs1554210895
NM_080680.3(COL11A2):c.808_813delinsATTGGGCTCG (p.Ser270fs) rs1554224412
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser) rs747242422
NM_133261.3(GIPC3):c.411+6C>T rs764713230
NM_133261.3(GIPC3):c.596T>C (p.Met199Thr) rs1241786174
NM_133261.3(GIPC3):c.939G>C (p.Ter313Tyr) rs1172324481
NM_133378.4(TTN):c.19367-15_19367-11dup rs876658044
NM_133378.4(TTN):c.[45418A>G;45419A>T]
NM_133379.5(TTN):c.10453G>C (p.Ala3485Pro) rs727503675
NM_133379.5(TTN):c.10559C>T (p.Pro3520Leu) rs189445085
NM_133379.5(TTN):c.11225del (p.Leu3742fs) rs727503670
NM_133379.5(TTN):c.11638A>G (p.Ser3880Gly) rs542259495
NM_133379.5(TTN):c.12502G>A (p.Ala4168Thr) rs1367949983
NM_133379.5(TTN):c.12654T>G (p.Ile4218Met) rs727503668
NM_133379.5(TTN):c.12887C>T (p.Pro4296Leu) rs727504927
NM_133379.5(TTN):c.12946G>A (p.Glu4316Lys) rs727503667
NM_133379.5(TTN):c.12997dup (p.Ile4333fs) rs397517806
NM_133379.5(TTN):c.13075G>A (p.Ala4359Thr) rs876658103
NM_133379.5(TTN):c.13252T>A (p.Tyr4418Asn) rs876658104
NM_133379.5(TTN):c.13295A>G (p.Asn4432Ser) rs397517808
NM_133379.5(TTN):c.13814T>C (p.Ile4605Thr) rs397517810
NM_133379.5(TTN):c.14026A>G (p.Ile4676Val) rs397517811
NM_133379.5(TTN):c.14258G>T (p.Cys4753Phe) rs397517812
NM_133379.5(TTN):c.14615C>G (p.Ser4872Cys) rs876658105
NM_133379.5(TTN):c.15002A>T (p.Lys5001Met) rs727504519
NM_133379.5(TTN):c.15280_15312del (p.5058TLERYSTPPGE[4]) rs397517814
NM_133379.5(TTN):c.15520A>G (p.Ile5174Val) rs727504853
NM_133379.5(TTN):c.16174C>A (p.Pro5392Thr) rs397517818
NM_133379.5(TTN):c.16264C>G (p.Pro5422Ala) rs397517820
NM_133379.5(TTN):c.16384G>A (p.Ala5462Thr) rs876658106
NM_133379.5(TTN):c.16387_16390del (p.Ile5463fs) rs397517822
NM_138477.4(CDAN1):c.1791_1792delinsTCTTGCCCTGGGCTTGAAGA (p.Glu597_Leu598delinsAspLeuAlaLeuGlyLeuLysIle) rs1555415486
NM_138691.3(TMC1):c.1022A>C (p.Asn341Thr) rs727504568
NM_138691.3(TMC1):c.1224+5G>A rs397517835
NM_138691.3(TMC1):c.1265C>A (p.Thr422Lys) rs868082421
NM_138691.3(TMC1):c.1369T>C (p.Phe457Leu) rs397517836
NM_138691.3(TMC1):c.1532C>A (p.Pro511His) rs727503483
NM_138691.3(TMC1):c.1796G>A (p.Gly599Asp) rs727503486
NM_138691.3(TMC1):c.1798A>G (p.Ile600Val) rs202144745
NM_138691.3(TMC1):c.1874G>C (p.Arg625Thr) rs762417969
NM_138691.3(TMC1):c.1902C>G (p.Asn634Lys) rs767285617
NM_138691.3(TMC1):c.1988A>G (p.Asp663Gly) rs397517837
NM_138691.3(TMC1):c.1992T>G (p.Cys664Trp) rs727503487
NM_138691.3(TMC1):c.403G>A (p.Gly135Arg) rs397517841
NM_138691.3(TMC1):c.532G>A (p.Glu178Lys) rs1588060117
NM_138691.3(TMC1):c.557C>G (p.Ala186Gly) rs727504470
NM_138691.3(TMC1):c.791G>C (p.Arg264Pro) rs147147941
NM_138691.3(TMC1):c.7C>A (p.Pro3Thr) rs569626109
NM_138691.3(TMC1):c.841G>T (p.Gly281Trp) rs397517842
NM_139284.3(LGI4):c.794-2A>G rs1600470209
NM_144573.3(NEXN):c.2026_*1del rs794729094
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) rs200067011
NM_144573.4(NEXN):c.1181_1182del (p.Glu394fs) rs727504874
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) rs397517846
NM_144573.4(NEXN):c.1430T>G (p.Ile477Ser) rs727504658
NM_144573.4(NEXN):c.1457C>G (p.Ala486Gly) rs397517847
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_144573.4(NEXN):c.1660-11_1660-7del rs727503344
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848
NM_144573.4(NEXN):c.1671GGA[5] (p.Glu562dup) rs397517848
NM_144573.4(NEXN):c.1753AAG[1] (p.Lys586del) rs397517851
NM_144573.4(NEXN):c.1820_1822del (p.Gly607del) rs876657928
NM_144573.4(NEXN):c.1937C>A (p.Pro646Gln) rs397517852
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del) rs397517853
NM_144573.4(NEXN):c.2015A>G (p.Glu672Gly) rs876657930
NM_144573.4(NEXN):c.220A>C (p.Ile74Leu) rs727503342
NM_144573.4(NEXN):c.249G>C (p.Glu83Asp) rs372532824
NM_144573.4(NEXN):c.677del (p.Ser226fs) rs397517859
NM_144573.4(NEXN):c.864G>T (p.Met288Ile) rs371666396
NM_144573.4(NEXN):c.86G>T (p.Gly29Val) rs876657931
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del) rs727505124
NM_144672.4(OTOA):c.1024G>C (p.Asp342His) rs1597824772
NM_144672.4(OTOA):c.1109A>G (p.Lys370Arg) rs727505354
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu) rs727504599
NM_144672.4(OTOA):c.1186G>A (p.Gly396Ser) rs1898305690
NM_144672.4(OTOA):c.1322T>C (p.Val441Ala) rs1555499893
NM_144672.4(OTOA):c.1880C>G (p.Pro627Arg) rs727503351
NM_144672.4(OTOA):c.2222G>C (p.Trp741Ser) rs727505120
NM_144672.4(OTOA):c.851T>C (p.Phe284Ser) rs727503348
NM_144672.4(OTOA):c.96G>T (p.Leu32Phe) rs372826296
NM_144991.3(TSPEAR):c.131C>T (p.Ala44Val) rs145231394
NM_144991.3(TSPEAR):c.1372T>G (p.Trp458Gly) rs782168687
NM_144991.3(TSPEAR):c.1493G>A (p.Gly498Asp) rs782040120
NM_144991.3(TSPEAR):c.1864G>A (p.Gly622Ser) rs876658039
NM_144991.3(TSPEAR):c.1925C>G (p.Ala642Gly) rs782299333
NM_145861.4(EDARADD):c.299_300insAAC (p.Cys100Ter) rs797045087
NM_147129.5(ALS2CL):c.2583del (p.Thr860_Tyr861insTer) rs761960683
NM_147196.2(TMIE):c.(?_-216)_*(1276_?)dup
NM_147196.3(TMIE):c.247C>T (p.Pro83Ser) rs876658019
NM_152393.3(KLHL40):c.[1849T>C;1850G>A]
NM_152515.5(CKAP2L):c.1534_1537del (p.Lys512fs) rs989196851
NM_152594.3(SPRED1):c.-12G>T rs371200183
NM_152594.3(SPRED1):c.1108C>T (p.Leu370Phe) rs397517870
NM_152732.5(RSPH9):c.824_825delinsAT (p.Met275Asn) rs727503395
NM_153676.4(USH1C):c.-15G>C rs1554965975
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.127G>A (p.Val43Met) rs145500807
NM_153676.4(USH1C):c.1574T>C (p.Leu525Pro) rs727504790
NM_153676.4(USH1C):c.1576G>A (p.Ala526Thr) rs727503711
NM_153676.4(USH1C):c.1699C>T (p.Pro567Ser) rs549628785
NM_153676.4(USH1C):c.1801C>A (p.Pro601Thr) rs727503710
NM_153676.4(USH1C):c.1838C>T (p.Thr613Ile) rs146191588
NM_153676.4(USH1C):c.1944G>T (p.Glu648Asp) rs1213612823
NM_153676.4(USH1C):c.2047C>T (p.Pro683Ser) rs397517873
NM_153676.4(USH1C):c.2302C>A (p.Leu768Met) rs876658110
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly) rs774005703
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys) rs769021971
NM_153676.4(USH1C):c.2579C>T (p.Pro860Leu) rs876658112
NM_153682.3(PIGP):c.-22-15_-18dup rs769435671
NM_153700.2(STRC):c.(?_3499)-60_(3557_?)+31del
NM_153700.2(STRC):c.(?_3519)_(3557_?)+28dup
NM_153700.2(STRC):c.(?_4443)_(4845_?)-68dup
NM_153700.2(STRC):c.(?_4845)-59_(4993_?)+61dup
NM_153700.2(STRC):c.1613G>T (p.Cys538Phe) rs876658006
NM_153700.2(STRC):c.2303_2313+1del rs1021413948
NM_153700.2(STRC):c.2614C>T (p.Pro872Ser) rs1187842173
NM_153700.2(STRC):c.2914C>T (p.Arg972Trp) rs876658008
NM_153700.2(STRC):c.3401T>G (p.Leu1134Arg) rs1555447461
NM_153700.2(STRC):c.4171C>T (p.Arg1391Cys) rs376104748
NM_153700.2(STRC):c.4298G>A (p.Cys1433Tyr) rs202189597
NM_153700.2(STRC):c.4415C>A (p.Pro1472Gln) rs144622511
NM_153700.2(STRC):c.4559C>A (p.Pro1520His) rs1246240978
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441
NM_153700.2(STRC):c.4919T>G (p.Leu1640Arg) rs727503440
NM_153700.2(STRC):c.5129_5130delinsAG (p.Ser1710Lys) rs1555446762
NM_153700.2(STRC):c.877G>A (p.Gly293Ser) rs876658010
NM_153700.2(STRC):c.911C>T (p.Ala304Val) rs727503448
NM_153700.2(STRC):c.995C>G (p.Ser332Cys) rs1360568237
NM_170682.4(P2RX2):c.1015A>T (p.Ile339Phe) rs1555299483
NM_170682.4(P2RX2):c.698A>G (p.Asp233Gly) rs1593676004
NM_170682.4(P2RX2):c.800A>G (p.Asn267Ser) rs1555299075
NM_170682.4(P2RX2):c.910G>A (p.Ala304Thr) rs1555299245
NM_170707.4(LMNA):c.-12A>T rs1553261811
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1158-3C>T rs727503136
NM_170707.4(LMNA):c.1223A>C (p.Gln408Pro) rs397517891
NM_170707.4(LMNA):c.1442A>G (p.Tyr481Cys) rs397517893
NM_170707.4(LMNA):c.1748C>G (p.Ser583Trp) rs59601651
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys) rs28928900
NM_170707.4(LMNA):c.1969-1G>T rs1060499873
NM_170707.4(LMNA):c.215G>T (p.Arg72Leu) rs727504340
NM_170707.4(LMNA):c.230T>C (p.Ile77Thr) rs876657850
NM_170707.4(LMNA):c.232A>G (p.Lys78Glu) rs876657851
NM_170707.4(LMNA):c.234G>C (p.Lys78Asn) rs727505038
NM_170707.4(LMNA):c.266G>A (p.Arg89His) rs59040894
NM_170707.4(LMNA):c.331G>C (p.Glu111Gln) rs61726475
NM_170707.4(LMNA):c.343_344delinsTT (p.Glu115Leu) rs727503134
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_170707.4(LMNA):c.436G>A (p.Ala146Thr) rs397517903
NM_170707.4(LMNA):c.449C>T (p.Thr150Ile) rs869069617
NM_170707.4(LMNA):c.629T>G (p.Ile210Ser) rs267607572
NM_170707.4(LMNA):c.643C>G (p.Leu215Val) rs397517905
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr) rs727505357
NM_170707.4(LMNA):c.739G>A (p.Glu247Lys) rs727504373
NM_170707.4(LMNA):c.860C>T (p.Ala287Val) rs397517910
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) rs1060499872
NM_173477.5(USH1G):c.251T>C (p.Leu84Pro) rs397517927
NM_173477.5(USH1G):c.451G>A (p.Ala151Thr) rs1598584337
NM_173477.5(USH1G):c.514C>T (p.Arg172Cys) rs199941325
NM_173477.5(USH1G):c.607C>G (p.Gln203Glu) rs727504890
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn) rs544952984
NM_173477.5(USH1G):c.731T>G (p.Leu244Arg) rs200259553
NM_173477.5(USH1G):c.770G>T (p.Arg257Leu) rs111033521
NM_173477.5(USH1G):c.806G>A (p.Arg269Gln) rs753080270
NM_173477.5(USH1G):c.809C>A (p.Ala270Asp) rs755287596
NM_173477.5(USH1G):c.925C>T (p.Arg309Cys) rs876658113
NM_173591.3(OTOGL):c.[6220A>G;6221T>C]
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.655C>G (p.Gln219Glu) rs778617372
NM_175914.5(HNF4A):c.101T>A (p.Val34Asp) rs2063496235
NM_177987.3(TUBB8):c.[1033C>T;1039A>G]
NM_178170.3(NEK8):c.47+1del rs786204782
NM_178335.3(CCDC50):c.1157T>C (p.Met386Thr) rs775687066
NM_178335.3(CCDC50):c.1221A>C (p.Arg407Ser) rs727504888
NM_178335.3(CCDC50):c.1303A>C (p.Lys435Gln) rs1553844770
NM_178335.3(CCDC50):c.914G>C (p.Arg305Thr) rs896068890
NM_181458.4(PAX3):c.1174-3del rs749733628
NM_181458.4(PAX3):c.871C>T (p.Pro291Ser) rs199651907
NM_182548.4(LHFPL5):c.214G>A (p.Val72Met) rs727503133
NM_182961.4(SYNE1):c.2097+3_2097+15del rs1593220945
NM_182961.4(SYNE1):c.3855C>T (p.Ile1285=) rs1592776784
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_194248.3(OTOF):c.1024G>C (p.Gly342Arg) rs1572444852
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194248.3(OTOF):c.1700C>A (p.Ala567Asp) rs745520384
NM_194248.3(OTOF):c.2287G>T (p.Val763Phe) rs138545671
NM_194248.3(OTOF):c.235G>A (p.Gly79Arg) rs727504911
NM_194248.3(OTOF):c.2523G>T (p.Glu841Asp) rs1553352609
NM_194248.3(OTOF):c.2896A>G (p.Met966Val) rs921891243
NM_194248.3(OTOF):c.327+3G>C rs876657935
NM_194248.3(OTOF):c.3488C>T (p.Ala1163Val) rs755175941
NM_194248.3(OTOF):c.3866C>T (p.Thr1289Ile) rs727504839
NM_194248.3(OTOF):c.3893T>C (p.Val1298Ala) rs397517946
NM_194248.3(OTOF):c.3913AAG[5] (p.Lys1310del) rs368148603
NM_194248.3(OTOF):c.3913AAG[7] (p.Lys1310dup) rs368148603
NM_194248.3(OTOF):c.4440G>A (p.Met1480Ile) rs727503354
NM_194248.3(OTOF):c.4822G>T (p.Asp1608Tyr) rs111033425
NM_194248.3(OTOF):c.514G>A (p.Gly172Arg) rs397517949
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_194248.3(OTOF):c.5695G>A (p.Asp1899Asn) rs137986959
NM_194248.3(OTOF):c.571C>T (p.Pro191Ser) rs775692695
NM_194248.3(OTOF):c.898-6C>A rs199687628
NM_194248.3(OTOF):c.986G>A (p.Arg329His) rs764248648
NM_194323.3(OTOF):c.3631A>G (p.Met1211Val) rs1482726409
NM_198253.3(TERT):c.1590G>C (p.Pro530=) rs1396912668
NM_198253.3(TERT):c.1793T>C (p.Leu598Pro) rs1579577379
NM_198253.3(TERT):c.2575C>T (p.Arg859Trp) rs876658018
NM_198253.3(TERT):c.2708C>T (p.Thr903Ile) rs727505125
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln) rs765566930
NM_198999.3(SLC26A5):c.1311+3G>T rs397517962
NM_201384.3(PLEC):c.8948C>T (p.Ala2983Val) rs1017632168
NM_201596.3(CACNB2):c.1534del (p.Ser512fs) rs767341738
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe) rs372858877
NM_203447.4(DOCK8):c.5207C>G (p.Ala1736Gly) rs139990627
NM_206933.4(USH2A):c.-1C>G rs547139318
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu) rs746870063
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys) rs757682417
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys) rs1553261469
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser) rs111033439
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.4(USH2A):c.11500T>A (p.Leu3834Met) rs1553257690
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met) rs397517975
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del) rs727504714
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln) rs1436435041
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu) rs147304271
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser) rs727505117
NM_206933.4(USH2A):c.13022G>T (p.Cys4341Phe) rs397517985
NM_206933.4(USH2A):c.13202G>T (p.Gly4401Val) rs763576540
NM_206933.4(USH2A):c.13238C>G (p.Pro4413Arg) rs1553252404
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.13882C>G (p.Pro4628Ala) rs1571945599
NM_206933.4(USH2A):c.14254G>A (p.Val4752Met) rs770161970
NM_206933.4(USH2A):c.15002A>C (p.Glu5001Ala) rs1558033265
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr) rs397517999
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp) rs746098518
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn) rs774383785
NM_206933.4(USH2A):c.1648G>C (p.Asp550His) rs727504805
NM_206933.4(USH2A):c.1799G>C (p.Gly600Ala) rs772955674
NM_206933.4(USH2A):c.182C>A (p.Pro61Gln) rs938662688
NM_206933.4(USH2A):c.1934C>T (p.Thr645Ile) rs397518004
NM_206933.4(USH2A):c.2228G>T (p.Gly743Val) rs727504638
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.2989G>A (p.Gly997Arg) rs397518009
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg) rs111033377
NM_206933.4(USH2A):c.3241A>G (p.Asn1081Asp) rs1553315006
NM_206933.4(USH2A):c.3509C>T (p.Thr1170Ile) rs2034944380
NM_206933.4(USH2A):c.3584G>C (p.Cys1195Ser) rs727504652
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe) rs770790346
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe) rs866592573
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5167+4A>G rs397518019
NM_206933.4(USH2A):c.5254T>G (p.Leu1752Val) rs727503728
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser) rs111033412
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6805+6T>A rs746355792
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys) rs727503722
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr) rs762558966
NM_206933.4(USH2A):c.7303C>A (p.Pro2435Thr) rs727503720
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp) rs397518031
NM_206933.4(USH2A):c.7595-2140G>C rs1665201229
NM_206933.4(USH2A):c.7633A>G (p.Lys2545Glu) rs774559456
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe) rs397518033
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr) rs397518038
NM_206933.4(USH2A):c.8845+6_8845+9del rs541344995
NM_206933.4(USH2A):c.9258+3T>C rs1553268427
NM_206933.4(USH2A):c.9814C>T (p.Pro3272Ser) rs1198810318
NM_213569.2(NEBL):c.250-10T>G rs727503339
NM_213569.2(NEBL):c.65A>T (p.Asp22Val) rs727503341
Single allele
m.1095T>C rs267606618
m.1187T>C rs111033320
m.1385C>T rs111033442
m.7468C>T rs111033173
m.7471delC rs111033319
m.956C>T rs397515729

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