ClinVar Miner

List of variants reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6207
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_000054.7(AVPR2):c.26-6T>G rs56689668 0.99968
NM_004415.4(DSP):c.741= (p.Ala247=) rs2806234 0.99917
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99732
NM_001191016.3(CASP12):c.373C>T (p.Arg125Ter) rs497116 0.95649
NM_000367.5(TPMT):c.474C>T (p.Ile158=) rs2842934 0.78250
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=) rs774726264 0.33333
NM_000569.8(FCGR3A):c.526T>G (p.Phe176Val) rs396991 0.32987
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_001164508.2(NEB):c.13788+12C>G rs876657543 0.14589
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_005411.5(SFTPA1):c.56T>C (p.Val19Ala) rs1059047 0.08215
NM_001103146.3(GIGYF2):c.3630_3631insG (p.Gln1211fs) rs775324034 0.03496
NM_002458.3(MUC5B):c.9010G>A (p.Ala3004Thr) rs116870693 0.03214
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701 0.03115
NM_001393986.1(PRDM2):c.3070T>A (p.Ser1024Thr) rs41269807 0.03109
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.03015
NM_001130182.2(DNAJA4):c.132+1348_132+1349del rs142025971 0.02999
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val) rs75792246 0.02993
NM_002458.3(MUC5B):c.11913T>C (p.Pro3971=) rs367905040 0.02930
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu) rs117535951 0.02765
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_002458.3(MUC5B):c.9181T>C (p.Ser3061Pro) rs189329205 0.02674
NM_002458.3(MUC5B):c.9179A>C (p.Lys3060Thr) rs184565965 0.02673
NM_002458.3(MUC5B):c.9140C>A (p.Thr3047Asn) rs201236828 0.02641
NM_002458.3(MUC5B):c.13674T>C (p.Thr4558=) rs202088302 0.02606
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_002458.3(MUC5B):c.8900A>G (p.Asn2967Ser) rs200811033 0.02553
NM_003719.5(PDE8B):c.1366-5G>A rs79008179 0.02537
NM_020877.5(DNAH2):c.12974C>G (p.Pro4325Arg) rs116930996 0.02472
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_198505.4(ATP13A5):c.1063C>T (p.Gln355Ter) rs74437357 0.02405
NM_001347886.2(DNAH3):c.6795C>T (p.Phe2265=) rs111770788 0.02387
NM_002458.3(MUC5B):c.7826T>C (p.Leu2609Pro) rs2943496 0.02358
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg) rs34231037 0.02299
NM_001347886.2(DNAH3):c.10328G>A (p.Arg3443Gln) rs111539520 0.02242
NM_005173.4(ATP2A3):c.2020C>T (p.Arg674Cys) rs9895012 0.02226
NM_002458.3(MUC5B):c.14718T>C (p.Pro4906=) rs145066684 0.02192
NM_004211.5(SLC6A5):c.266C>A (p.Ala89Glu) rs61736602 0.02191
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_134424.4(RAD52):c.1245T>G (p.Tyr415Ter) rs4987208 0.02163
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351 0.02129
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_005144.5(HR):c.1859G>A (p.Arg620Gln) rs117197822 0.02084
NM_001034853.2(RPGR):c.3231T>A (p.Asn1077Lys) rs62636730 0.02044
NM_012106.4(ARL2BP):c.259G>A (p.Glu87Lys) rs7198865 0.02043
NM_002458.3(MUC5B):c.8886T>C (p.Arg2962=) rs368128605 0.02002
NM_002458.3(MUC5B):c.9143C>T (p.Ala3048Val) rs188370271 0.01993
NM_017637.6(BNC2):c.2768C>T (p.Ala923Val) rs117452684 0.01981
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01957
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_173628.4(DNAH17):c.12854G>A (p.Arg4285Gln) rs35973257 0.01936
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_001363538.2(TCAF2):c.2190C>T (p.Pro730=) rs142539094 0.01872
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630 0.01756
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_199242.3(UNC13D):c.2782C>T (p.Arg928Cys) rs35037984 0.01713
NM_018897.3(DNAH7):c.6161A>G (p.Tyr2054Cys) rs62623377 0.01654
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_032495.6(HOPX):c.87G>A (p.Glu29=) rs11555052 0.01597
NM_002424.3(MMP8):c.1348C>T (p.Gln450Ter) rs35231465 0.01589
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile) rs62288347 0.01504
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser) rs72842957 0.01485
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847 0.01456
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_000369.5(TSHR):c.692+49T>C rs28636074 0.01441
NM_000175.5(GPI):c.623T>C (p.Ile208Thr) rs8191371 0.01437
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_001194.4(HCN2):c.1584+7C>T rs55978915 0.01331
NM_012268.4(PLD3):c.1326G>A (p.Ala442=) rs4819 0.01329
NM_012079.6(DGAT1):c.455A>G (p.Lys152Arg) rs55907012 0.01307
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_031900.4(AGXT2):c.1188+1G>A rs114286107 0.01270
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 0.01239
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_001267550.2(TTN):c.100766-9C>T rs77483833 0.01165
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455 0.01048
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_001375834.1(WIPF1):c.1446C>T (p.Asn482=) rs116757787 0.01011
NM_018046.5(AGGF1):c.397G>A (p.Glu133Lys) rs34203073 0.01003
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) rs41314453 0.01000
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) rs56398830 0.00998
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994 0.00978
NM_000479.5(AMH):c.974A>G (p.Gln325Arg) rs140765565 0.00966
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_018897.3(DNAH7):c.1139T>G (p.Met380Arg) rs144390858 0.00904
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_005411.5(SFTPA1):c.26A>C (p.Asn9Thr) rs139899873 0.00891
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_020877.5(DNAH2):c.492G>A (p.Arg164=) rs117035657 0.00887
NM_020877.5(DNAH2):c.2648C>T (p.Ser883Leu) rs118057786 0.00885
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_007214.5(SEC63):c.340-9T>C rs1569555 0.00851
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_005544.3(IRS1):c.2452G>C (p.Gly818Arg) rs41265094 0.00841
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_005460.4(SNCAIP):c.2125G>C (p.Glu709Gln) rs55712196 0.00826
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_004998.4(MYO1E):c.1593C>G (p.Ile531Met) rs140447165 0.00815
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_001101648.2(NPC1L1):c.3617T>A (p.Ile1206Asn) rs52815063 0.00800
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=) rs577023485 0.00762
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) rs138292988 0.00725
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971 0.00706
NM_004316.4(ASCL1):c.123A>G (p.Ala41=) rs558732328 0.00702
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_170665.4(ATP2A2):c.-10C>G rs201929640 0.00698
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=) rs55984131 0.00696
NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met) rs61757218 0.00685
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_001292063.2(OTOG):c.8168T>C (p.Leu2723Pro) rs180703235 0.00643
NM_000492.4(CFTR):c.1680-871A>G rs572658447 0.00636
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_002458.3(MUC5B):c.15826G>T (p.Val5276Leu) rs55893724 0.00624
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_001142784.3(IL11RA):c.128C>T (p.Ser43Phe) rs76429508 0.00615
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_003002.4(SDHD):c.*428A>G rs184654032 0.00590
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_001161529.1(CSF2RA):c.491G>A (p.Arg164Gln) rs138964358 0.00550
NR_029615.1(MIR183):n.51G>T rs72631833 0.00548
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661 0.00506
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) rs77303974 0.00503
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_021075.4(NDUFV3):c.168A>C (p.Lys56Asn) rs141922962 0.00469
NM_001292063.2(OTOG):c.2098G>A (p.Ala700Thr) rs113745835 0.00467
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779 0.00466
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_004316.4(ASCL1):c.138A>T (p.Ala46=) rs552552603 0.00464
NM_001277115.2(DNAH11):c.4501-7A>T rs62447794 0.00461
NR_029512.1(MIR96):n.42C>T rs73159662 0.00451
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
NM_003803.4(MYOM1):c.739G>A (p.Glu247Lys) rs139422575 0.00435
NM_020297.4(ABCC9):c.142+15dup rs571187142 0.00428
NM_032122.5(DTNBP1):c.811+96G>A rs16876569 0.00424
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_001393500.2(TOMT):c.253G>A (p.Val85Ile) rs181092713 0.00416
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_002458.3(MUC5B):c.2429C>A (p.Thr810Asn) rs190624357 0.00413
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=) rs182293382 0.00413
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00412
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_016327.3(UPB1):c.254C>A (p.Ala85Glu) rs34035085 0.00401
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_001277115.2(DNAH11):c.13050-15C>T rs149634292 0.00399
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374 0.00382
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter) rs182004761 0.00376
NM_012156.2(EPB41L1):c.1245C>T (p.Pro415=) rs77396561 0.00373
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_001006630.2(CHRM2):c.691G>A (p.Val231Ile) rs76394680 0.00359
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys) rs119486097 0.00351
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307 0.00349
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg) rs114969026 0.00341
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493 0.00336
NM_006393.3(NEBL):c.480+3A>G rs71578983 0.00336
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_001032283.3(TMPO):c.*1A>G rs1058300 0.00324
NM_001098668.4(SFTPA2):c.253C>T (p.Arg85Cys) rs150273659 0.00321
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001292063.2(OTOG):c.639G>T (p.Glu213Asp) rs61736015 0.00315
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_030930.4(UNC93B1):c.393-10C>T rs117183629 0.00314
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_001114086.2(CLIC5):c.237A>T (p.Arg79Ser) rs41271277 0.00309
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493 0.00309
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln) rs76461792 0.00308
NM_020297.4(ABCC9):c.1296C>T (p.Pro432=) rs10770865 0.00308
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val) rs72657389 0.00307
NM_015690.5(STK36):c.1158T>C (p.Asp386=) rs55839518 0.00306
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529 0.00293
NM_001277115.2(DNAH11):c.8798-5G>A rs189821372 0.00292
NM_003672.4(CDC14A):c.1604A>G (p.Gln535Arg) rs113885721 0.00292
NM_001292063.2(OTOG):c.7585+12G>A rs538124093 0.00291
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_001292063.2(OTOG):c.1213+14A>C rs143302987 0.00290
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001614.5(ACTG1):c.780G>A (p.Ala260=) rs140846345 0.00287
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040 0.00285
NM_001032283.3(TMPO):c.565+1240G>A rs139700737 0.00284
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile) rs148915045 0.00284
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667 0.00277
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_003803.4(MYOM1):c.2062A>T (p.Thr688Ser) rs188677538 0.00276
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg) rs150199226 0.00275
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_012208.4(HARS2):c.7C>G (p.Leu3Val) rs186043734 0.00273
NM_198999.3(SLC26A5):c.-13A>C rs142432368 0.00273
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840 0.00272
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410 0.00271
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_015846.4(MBD1):c.1410G>A (p.Pro470=) rs116701586 0.00267
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) rs147383873 0.00265
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) rs149075285 0.00263
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_003803.4(MYOM1):c.1901-14T>C rs200115559 0.00262
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln) rs143848095 0.00260
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 0.00255
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_005422.4(TECTA):c.3304G>A (p.Val1102Ile) rs34658230 0.00253
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_006393.3(NEBL):c.154-11C>A rs41277376 0.00252
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NM_019616.4(F7):c.739+7A>G rs519650 0.00249
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00248
NM_001128228.3(TPRN):c.1748A>G (p.Lys583Arg) rs139459217 0.00247
NM_001384474.1(LOXHD1):c.4720G>A (p.Glu1574Lys) rs78427072 0.00246
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe) rs143584663 0.00245
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 0.00245
NM_001134363.3(RBM20):c.150A>T (p.Pro50=) rs376936285 0.00244
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_001292063.2(OTOG):c.899A>G (p.His300Arg) rs189159426 0.00243
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099 0.00242
NM_004447.6(EPS8):c.2230G>A (p.Val744Ile) rs77967764 0.00242
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00241
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105 0.00240
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00240
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser) rs149748934 0.00240
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328 0.00239
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579 0.00238
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298 0.00238
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_181426.2(CCDC39):c.2299T>C (p.Leu767=) rs200913298 0.00238
NM_032119.4(ADGRV1):c.22+9T>C rs368604803 0.00236
NM_153702.4(ELMOD2):c.116T>G (p.Val39Gly) rs150922490 0.00232
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 0.00231
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_000092.5(COL4A4):c.4217-15T>C rs200926310 0.00228
NM_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140 0.00225
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_024334.3(TMEM43):c.*8C>T rs192707412 0.00225
NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala) rs147287437 0.00225
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00222
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_032578.4(MYPN):c.3846T>A (p.Ser1282Arg) rs147659164 0.00222
NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met) rs140126678 0.00220
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705 0.00218
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys) rs139954112 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_001386795.1(DTNA):c.1176-8T>C rs41274310 0.00216
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_001105206.3(LAMA4):c.5207-14G>C rs112265545 0.00214
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589 0.00212
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_006261.5(PROP1):c.630A>C (p.Pro210=) rs535993919 0.00212
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln) rs150883816 0.00211
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr) rs72647897 0.00211
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=) rs113152264 0.00210
NM_001292063.2(OTOG):c.7693+14A>T rs545542156 0.00210
NM_001267550.2(TTN):c.289G>A (p.Val97Met) rs185921345 0.00208
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_002471.4(MYH6):c.4401T>G (p.Ser1467=) rs150081280 0.00208
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_000260.4(MYO7A):c.4323+12G>A rs115708951 0.00207
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392 0.00206
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp) rs200146361 0.00205
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=) rs143004930 0.00205
NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=) rs546907305 0.00204
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) rs140528529 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00202
NM_005379.4(MYO1A):c.541+12C>T rs150907076 0.00201
NM_005411.5(SFTPA1):c.630C>G (p.Asn210Lys) rs150214547 0.00201
NM_033337.3(CAV3):c.-1G>A rs74377241 0.00201
NM_004700.4(KCNQ4):c.1292+12G>A rs200426006 0.00200
NM_016929.5(CLIC5):c.341C>A (p.Ala114Glu) rs143360018 0.00200
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683 0.00200
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met) rs144539321 0.00200
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_181426.2(CCDC39):c.1363-3del rs551191744 0.00199
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_002473.6(MYH9):c.5143G>A (p.Gly1715Ser) rs148109368 0.00198
NM_133379.5(TTN):c.10648C>T (p.Arg3550Trp) rs141407971 0.00198
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865 0.00197
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met) rs150403702 0.00197
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser) rs150864240 0.00196
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097 0.00195
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala) rs190922596 0.00195
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_172245.4(CSF2RA):c.647-7G>A rs189869234 0.00195
NM_172245.4(CSF2RA):c.997G>A (p.Val333Met) rs150290042 0.00195
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507 0.00194
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971 0.00193
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000899.5(KITLG):c.177C>T (p.Pro59=) rs61924705 0.00192
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530 0.00192
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016 0.00192
NM_144991.3(TSPEAR):c.337G>A (p.Glu113Lys) rs144166142 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) rs141873943 0.00191
NM_000363.5(TNNI3):c.550-10C>T rs201240150 0.00190
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015 0.00189
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=) rs149668487 0.00189
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg) rs202125813 0.00189
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662 0.00189
NM_001032283.3(TMPO):c.565+1728G>C rs145703021 0.00188
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293 0.00188
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_006393.3(NEBL):c.1869+8C>G rs188529864 0.00188
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344 0.00187
NM_001292063.2(OTOG):c.5345T>C (p.Leu1782Pro) rs61744602 0.00187
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu) rs35107075 0.00186
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr) rs182126530 0.00185
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu) rs143251588 0.00185
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_080680.3(COL11A2):c.2115+7T>C rs186051366 0.00185
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_014391.3(ANKRD1):c.208-15G>A rs116511484 0.00184
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) rs144022614 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_173477.5(USH1G):c.501C>G (p.Arg167=) rs141688757 0.00182
NM_016929.5(CLIC5):c.508G>C (p.Gly170Arg) rs114149334 0.00181
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926 0.00180
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_021167.5(GATAD1):c.176G>C (p.Gly59Ala) rs531449433 0.00180
NM_133261.3(GIPC3):c.132G>C (p.Ala44=) rs80060313 0.00180
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg) rs144682235 0.00179
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_001384474.1(LOXHD1):c.5169C>T (p.Tyr1723=) rs114736976 0.00178
NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro) rs76657474 0.00178
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_080680.3(COL11A2):c.1774-9C>T rs148243956 0.00178
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00177
NM_006073.4(TRDN):c.793+61T>C rs572614305 0.00177
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly) rs188319622 0.00176
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00176
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_001318895.3(FHL2):c.109G>T (p.Ala37Ser) rs74575749 0.00175
NM_002471.4(MYH6):c.2293-12C>G rs115453571 0.00175
NM_004281.4(BAG3):c.25A>G (p.Met9Val) rs137965903 0.00175
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys) rs145656924 0.00175
NM_181458.4(PAX3):c.586+57A>G rs202175449 0.00175
NM_001105206.3(LAMA4):c.196-9C>T rs144850734 0.00174
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_001195263.2(PDZD7):c.2538G>C (p.Gly846=) rs111750275 0.00173
NM_001943.5(DSG2):c.1652-12C>T rs140850369 0.00173
NM_002906.4(RDX):c.1487C>T (p.Ala496Val) rs74983220 0.00173
NM_004985.5(KRAS):c.-48G>A rs532564755 0.00173
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
NM_001039141.3(TRIOBP):c.5886A>G (p.Pro1962=) rs372220018 0.00171
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys) rs190565627 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_005419.4(STAT2):c.759C>T (p.His253=) rs147605088 0.00169
NM_033056.4(PCDH15):c.4733T>C (p.Val1578Ala) rs139915181 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr) rs142372794 0.00168
NM_001378609.3(OTOGL):c.6968G>A (p.Arg2323Gln) rs143495342 0.00168
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His) rs200623501 0.00168
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn) rs138151478 0.00168
NM_001292063.2(OTOG):c.1285C>T (p.Arg429Trp) rs199968574 0.00166
NM_003803.4(MYOM1):c.3572A>G (p.Asn1191Ser) rs200480164 0.00166
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala) rs373913240 0.00165
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351 0.00164
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val) rs115813214 0.00163
NM_170682.4(P2RX2):c.211G>A (p.Glu71Lys) rs143664462 0.00163
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_001379180.1(ESRRB):c.206C>T (p.Ala69Val) rs61760172 0.00161
NM_000352.6(ABCC8):c.3399+13G>A rs182340196 0.00160
NM_001369.3(DNAH5):c.1321-15T>C rs202081804 0.00160
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn) rs143730090 0.00160
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470 0.00160
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=) rs201200682 0.00159
NM_001378609.3(OTOGL):c.1957T>G (p.Cys653Gly) rs200364230 0.00159
NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile) rs150395260 0.00159
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466 0.00159
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_001330691.3(CEP78):c.898T>C (p.Ser300Pro) rs72743760 0.00158
NM_001370.2(DNAH6):c.10233C>G (p.Pro3411=) rs72832550 0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078 0.00158
NM_001039141.3(TRIOBP):c.3954C>T (p.Ser1318=) rs200990219 0.00157
NM_015340.4(LARS2):c.255C>T (p.Tyr85=) rs114881088 0.00157
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001164508.2(NEB):c.8072G>A (p.Arg2691His) rs35555631 0.00156
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) rs144494437 0.00155
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_004985.5(KRAS):c.-122C>T rs61759617 0.00155
NM_172245.4(CSF2RA):c.279A>G (p.Thr93=) rs140581875 0.00155
NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val) rs138037294 0.00155
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala) rs200017524 0.00154
NM_001145809.2(MYH14):c.5127+10G>A rs370928889 0.00153
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn) rs189202799 0.00153
NM_004700.4(KCNQ4):c.1231C>T (p.Arg411Cys) rs199809248 0.00153
NM_006941.4(SOX10):c.822C>T (p.Gly274=) rs147334218 0.00153
NM_022114.4(PRDM16):c.201G>A (p.Pro67=) rs199614349 0.00153
NM_001105206.3(LAMA4):c.4822-3C>T rs191447048 0.00151
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) rs72646880 0.00151
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) rs199805060 0.00151
NM_003280.3(TNNC1):c.203-5C>T rs142519988 0.00151
NM_006005.3(WFS1):c.1491C>T (p.Val497=) rs148310584 0.00151
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=) rs61999270 0.00151
NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val) rs201323940 0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=) rs77562287 0.00150
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val) rs111033492 0.00150
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702 0.00149
NM_003803.4(MYOM1):c.4776C>G (p.Leu1592=) rs1143658 0.00149
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959 0.00148
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522 0.00148
NM_002458.3(MUC5B):c.8709G>A (p.Ala2903=) rs371299435 0.00147
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) rs142990800 0.00147
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073 0.00146
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr) rs72650040 0.00146
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015 0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_002458.3(MUC5B):c.1497C>T (p.Gly499=) rs377351415 0.00146
NM_006284.4(TAF10):c.*1210C>T rs145172848 0.00146
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=) rs186426892 0.00146
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_001038.6(SCNN1A):c.416+3C>T rs181894737 0.00145
NM_001127217.3(SMAD9):c.487G>A (p.Ala163Thr) rs61753157 0.00145
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689 0.00145
NM_020433.5(JPH2):c.642G>A (p.Ala214=) rs587780956 0.00145
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=) rs61741955 0.00145
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) rs146954342 0.00145
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184 0.00144
NM_001039141.3(TRIOBP):c.4728T>C (p.Arg1576=) rs112874177 0.00143
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_194248.3(OTOF):c.2374C>T (p.Arg792Trp) rs148532589 0.00143
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486 0.00142
NM_000363.5(TNNI3):c.373-15C>G rs192630178 0.00141
NM_001010892.3(RSPH4A):c.1662+15C>T rs183372450 0.00141
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu) rs150733188 0.00141
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567 0.00141
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00141
NM_004281.4(BAG3):c.549C>G (p.Ser183=) rs112929734 0.00141
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060 0.00141
NM_144573.4(NEXN):c.864+12T>A rs188416492 0.00141
NM_144672.4(OTOA):c.2417A>C (p.Tyr806Ser) rs464691 0.00141
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=) rs114719960 0.00141
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser) rs181306086 0.00140
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) rs113938044 0.00140
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_000601.6(HGF):c.137C>T (p.Ala46Val) rs150267054 0.00139
NM_002473.6(MYH9):c.705+14C>T rs142552338 0.00139
NM_003803.4(MYOM1):c.117C>T (p.Tyr39=) rs375113650 0.00139
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_000257.4(MYH7):c.2358G>A (p.Thr786=) rs36211714 0.00137
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg) rs184218219 0.00137
NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=) rs375013523 0.00137
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073 0.00137
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp) rs114917863 0.00137
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser) rs202211640 0.00137
NM_004100.5(EYA4):c.783G>A (p.Thr261=) rs17854076 0.00136
NM_007078.3(LDB3):c.1422G>A (p.Ser474=) rs142625982 0.00136
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser) rs145506099 0.00136
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=) rs183447491 0.00135
NM_153700.2(STRC):c.5179G>C (p.Glu1727Gln) rs141749062 0.00135
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885 0.00134
NM_001292063.2(OTOG):c.7353A>C (p.Gln2451His) rs145833172 0.00134
NM_001378609.3(OTOGL):c.4906G>A (p.Glu1636Lys) rs143817729 0.00134
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00134
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647 0.00134
NM_001039141.3(TRIOBP):c.4139A>G (p.Glu1380Gly) rs202059880 0.00133
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) rs200431386 0.00133
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val) rs72650030 0.00133
NM_005422.4(TECTA):c.2418G>A (p.Leu806=) rs138185038 0.00133
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393 0.00133
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358 0.00132
NM_006393.3(NEBL):c.2482A>G (p.Ile828Val) rs143930021 0.00132
NM_000432.4(MYL2):c.279G>A (p.Ala93=) rs28645088 0.00131
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser) rs186681106 0.00131
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858 0.00131
NM_001384474.1(LOXHD1):c.3426G>A (p.Val1142=) rs200068167 0.00130
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_001039141.3(TRIOBP):c.5224C>T (p.Leu1742Phe) rs200493962 0.00129
NM_001039141.3(TRIOBP):c.5378A>C (p.Glu1793Ala) rs147273930 0.00129
NM_001267550.2(TTN):c.32555-6T>C rs375742678 0.00129
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_133379.5(TTN):c.14214C>T (p.Thr4738=) rs147513899 0.00129
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile) rs150016894 0.00129
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00128
NM_001006630.2(CHRM2):c.773A>G (p.Asn258Ser) rs142006633 0.00128
NM_001330691.3(CEP78):c.103C>T (p.Arg35Cys) rs200483715 0.00128
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) rs145211830 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168 0.00127
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr) rs548278514 0.00127
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile) rs139779680 0.00127
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) rs146436765 0.00126
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=) rs142977481 0.00126
NM_001038603.3(MARVELD2):c.615C>T (p.Ala205=) rs146796266 0.00126
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001199107.2(TBC1D24):c.-7C>T rs199852092 0.00126
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu) rs199855270 0.00126
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858 0.00125
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175 0.00125
NM_032119.4(ADGRV1):c.2119A>T (p.Ile707Leu) rs200897149 0.00125
NM_001008216.2(GALE):c.873+13G>C rs760941 0.00124
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753 0.00124
NM_001379180.1(ESRRB):c.1120+11C>T rs116803435 0.00124
NM_004985.5(KRAS):c.-160A>G rs727503111 0.00124
NM_004999.4(MYO6):c.2595C>T (p.Pro865=) rs150876010 0.00124
NM_022124.6(CDH23):c.5067+15G>A rs367928867 0.00124
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_133379.5(TTN):c.10411G>A (p.Ala3471Thr) rs149878929 0.00124
NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg) rs200770543 0.00124
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740 0.00123
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001039141.3(TRIOBP):c.5058C>G (p.Pro1686=) rs113459040 0.00123
NM_001039141.3(TRIOBP):c.5380-14C>T rs182214887 0.00123
NM_001267550.2(TTN):c.2764C>T (p.Arg922Cys) rs72647862 0.00123
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534 0.00123
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=) rs148968935 0.00123
NM_005422.4(TECTA):c.2123A>G (p.Lys708Arg) rs144932466 0.00123
NM_005422.4(TECTA):c.4720A>G (p.Ile1574Val) rs147354818 0.00123
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_022124.6(CDH23):c.2781C>T (p.Tyr927=) rs375102725 0.00123
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00122
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr) rs189893797 0.00122
NM_001267550.2(TTN):c.25134A>G (p.Ala8378=) rs371819104 0.00122
NM_001292063.2(OTOG):c.5252G>A (p.Arg1751His) rs185432248 0.00122
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=) rs141552752 0.00121
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738 0.00121
NM_017433.5(MYO3A):c.424C>T (p.His142Tyr) rs140301218 0.00121
NM_032119.4(ADGRV1):c.11805C>T (p.Asn3935=) rs144269892 0.00121
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947 0.00121
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00120
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=) rs189243324 0.00120
NM_001199138.2(NLRC4):c.2740T>C (p.Leu914=) rs34716166 0.00120
NM_001199799.2(ILDR1):c.1305C>A (p.Ser435Arg) rs35597690 0.00120
NM_002471.4(MYH6):c.*8T>C rs201560522 0.00120
NM_022124.6(CDH23):c.2954-15C>T rs376377077 0.00120
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=) rs55807353 0.00120
NM_203447.4(DOCK8):c.3826G>T (p.Val1276Leu) rs148796842 0.00120
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00120
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963 0.00119
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254 0.00119
NM_001292063.2(OTOG):c.2561+9C>T rs528157125 0.00119
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_002473.6(MYH9):c.1158C>T (p.Thr386=) rs138502859 0.00119
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys) rs142441725 0.00119
NM_032119.4(ADGRV1):c.207+3A>G rs142356935 0.00119
NM_001128840.3(CACNA1D):c.3168-6C>G rs72556355 0.00118
NM_003672.4(CDC14A):c.192C>T (p.Cys64=) rs201731089 0.00118
NM_016239.4(MYO15A):c.7908C>T (p.Ala2636=) rs201535856 0.00118
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919 0.00118
NM_000335.5(SCN5A):c.4297-14T>C rs56104887 0.00117
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_198999.3(SLC26A5):c.78G>A (p.Pro26=) rs141436712 0.00117
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu) rs147195954 0.00116
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys) rs149460065 0.00116
NM_003803.4(MYOM1):c.1952G>A (p.Arg651Gln) rs184721031 0.00116
NM_000260.4(MYO7A):c.3864C>T (p.Ala1288=) rs144657938 0.00115
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu) rs200187681 0.00115
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His) rs144717803 0.00114
NM_004568.6(SERPINB6):c.708C>T (p.Asp236=) rs144895010 0.00114
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=) rs143055643 0.00113
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_001039876.3(SYNE4):c.257C>T (p.Pro86Leu) rs200630302 0.00113
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333 0.00113
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=) rs34055850 0.00113
NM_144573.4(NEXN):c.1618A>G (p.Met540Val) rs201390657 0.00113
NM_194248.3(OTOF):c.3734-13T>C rs368329882 0.00113
NM_001145472.3(LOXHD1):c.3340G>A (p.Gly1114Arg) rs142931455 0.00112
NM_080680.3(COL11A2):c.1612-10G>C rs182657680 0.00112
NM_001366385.1(CARD14):c.2691+15G>A rs200394665 0.00111
NM_001378609.3(OTOGL):c.2564C>T (p.Pro855Leu) rs183159689 0.00111
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255 0.00111
NM_016239.4(MYO15A):c.1582G>A (p.Gly528Ser) rs199695398 0.00111
NM_017433.5(MYO3A):c.1566A>C (p.Gly522=) rs139121564 0.00111
NM_022124.6(CDH23):c.6275C>T (p.Thr2092Ile) rs145868749 0.00111
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser) rs144417952 0.00110
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly) rs201835888 0.00110
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile) rs200343420 0.00110
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly) rs145929269 0.00110
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser) rs149911553 0.00110
NM_006941.4(SOX10):c.72C>T (p.Ser24=) rs763019569 0.00110
NM_016239.4(MYO15A):c.9691-3C>A rs142996507 0.00110
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=) rs138380958 0.00110
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_001292063.2(OTOG):c.6907C>T (p.Arg2303Cys) rs568549806 0.00109
NM_000384.3(APOB):c.2068-4T>A rs41291161 0.00108
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys) rs199560188 0.00108
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala) rs201185434 0.00108
NM_001267550.2(TTN):c.16055-9A>C rs368897883 0.00108
NM_002471.4(MYH6):c.2430-14C>T rs190342289 0.00108
NM_004415.4(DSP):c.2986-6T>A rs144748036 0.00108
NM_005219.5(DIAPH1):c.2067A>C (p.Pro689=) rs876657451 0.00108
NM_022124.6(CDH23):c.8256C>T (p.Gly2752=) rs372846962 0.00108
NM_057176.3(BSND):c.177+15G>C rs193020037 0.00108
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792 0.00108
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met) rs139361545 0.00107
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_001145809.2(MYH14):c.4417G>A (p.Val1473Met) rs112716976 0.00107
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) rs199652066 0.00107
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495 0.00107
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=) rs143049740 0.00107
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) rs139517777 0.00107
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00107
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871 0.00106
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) rs143851458 0.00106
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_001035.3(RYR2):c.1143C>T (p.Ser381=) rs368844286 0.00105
NM_001128840.3(CACNA1D):c.1344C>T (p.Ile448=) rs145203578 0.00105
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216 0.00105
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00105
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu) rs200875379 0.00105
NM_001372106.1(DNAH10):c.9848C>T (p.Thr3283Met) rs191384577 0.00105
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys) rs189255177 0.00105
NM_022124.6(CDH23):c.2865C>T (p.Arg955=) rs79636933 0.00105
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_000321.3(RB1):c.1961-12T>C rs201697122 0.00104
NM_001035.3(RYR2):c.1135G>A (p.Val379Met) rs199693714 0.00104
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245 0.00104
NM_017433.5(MYO3A):c.1500G>A (p.Ala500=) rs146797033 0.00104
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_198999.3(SLC26A5):c.1233+14A>G rs191459658 0.00104
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598 0.00103
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His) rs149375775 0.00103
NM_001292063.2(OTOG):c.6012C>T (p.Asp2004=) rs61734252 0.00103
NM_005379.4(MYO1A):c.2341A>G (p.Lys781Glu) rs144384395 0.00103
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001134363.3(RBM20):c.280C>T (p.Leu94=) rs182768779 0.00102
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00102
NM_001267550.2(TTN):c.49998T>C (p.Asn16666=) rs376917681 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_133379.5(TTN):c.11254T>A (p.Ser3752Thr) rs144209883 0.00102
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln) rs147967199 0.00102
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508 0.00102
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_001018116.2(CAVIN4):c.243T>G (p.Asn81Lys) rs149165620 0.00101
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932 0.00101
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813 0.00101
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His) rs192234924 0.00101
NM_022124.6(CDH23):c.4287C>T (p.Pro1429=) rs377493327 0.00101
NM_033118.4(MYLK2):c.102A>G (p.Lys34=) rs28763880 0.00101
NM_001267550.2(TTN):c.1776T>C (p.Asp592=) rs147081804 0.00100
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00100
NM_001292063.2(OTOG):c.1286G>A (p.Arg429Gln) rs528799547 0.00100
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859 0.00100
NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala) rs201104206 0.00100
NM_004568.6(SERPINB6):c.1095C>T (p.Asn365=) rs145397970 0.00100
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521 0.00100
NM_001267550.2(TTN):c.96998G>A (p.Arg32333His) rs138846756 0.00099
NM_016239.4(MYO15A):c.709G>A (p.Asp237Asn) rs201737186 0.00099
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_032578.4(MYPN):c.465C>G (p.Ala155=) rs142867001 0.00099
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544 0.00098
NM_001032283.3(TMPO):c.565+2224A>G rs34983516 0.00098
NM_001145809.2(MYH14):c.1275C>T (p.Thr425=) rs149221129 0.00098
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln) rs113570783 0.00098
NM_001199799.2(ILDR1):c.225A>G (p.Ser75=) rs146402126 0.00098
NM_002458.3(MUC5B):c.16273G>A (p.Gly5425Arg) rs201746407 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) rs149558159 0.00098
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_001039141.3(TRIOBP):c.4099C>T (p.Arg1367Trp) rs191589773 0.00097
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338 0.00097
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) rs150544093 0.00097
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633 0.00097
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899 0.00097
NM_004004.6(GJB2):c.-174C>G rs541058463 0.00097
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346 0.00097
NM_206933.4(USH2A):c.3158-7A>G rs201558076 0.00097
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) rs193922382 0.00096
NM_000260.4(MYO7A):c.5259G>A (p.Lys1753=) rs370062187 0.00096
NM_000503.6(EYA1):c.1199+13G>T rs200345478 0.00096
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=) rs138680809 0.00096
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315 0.00096
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100 0.00096
NM_006012.4(CLPP):c.399C>T (p.Tyr133=) rs140025832 0.00096
NM_006016.6(CD164):c.575G>A (p.Arg192Gln) rs62436104 0.00096
NM_007078.3(LDB3):c.1653C>T (p.Cys551=) rs45581435 0.00096
NM_016239.4(MYO15A):c.1387A>G (p.Met463Val) rs201794569 0.00096
NM_017837.4(PIGV):c.348G>A (p.Leu116=) rs148662665 0.00096
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308 0.00096
NM_001039876.3(SYNE4):c.7C>T (p.Leu3=) rs373148223 0.00095
NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=) rs149746093 0.00095
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_002471.4(MYH6):c.3303G>A (p.Val1101=) rs143825034 0.00095
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820 0.00095
NM_017433.5(MYO3A):c.585+4A>T rs202189844 0.00095
NM_022124.6(CDH23):c.8980-12C>T rs111583276 0.00095
NM_001031679.3(MSRB3):c.114T>C (p.Phe38=) rs114599476 0.00094
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803 0.00094
NM_001267550.2(TTN):c.101936C>G (p.Pro33979Arg) rs200238877 0.00094
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298 0.00094
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) rs2055006 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_006005.3(WFS1):c.1321G>A (p.Val441Met) rs150894674 0.00094
NM_133379.5(TTN):c.14489A>G (p.Gln4830Arg) rs144905085 0.00094
NM_000090.4(COL3A1):c.1051-13G>A rs371934572 0.00093
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011 0.00093
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile) rs183245562 0.00093
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met) rs145527033 0.00093
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=) rs201069672 0.00093
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00093
NM_003672.4(CDC14A):c.457-6T>C rs202211124 0.00093
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr) rs148735953 0.00093
NM_032578.4(MYPN):c.734C>G (p.Ala245Gly) rs143574079 0.00093
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp) rs140542643 0.00093
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778 0.00093
NM_194248.3(OTOF):c.3384C>T (p.Pro1128=) rs145151677 0.00093
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249 0.00092
NM_002471.4(MYH6):c.1083G>T (p.Gly361=) rs138928022 0.00092
NM_022124.6(CDH23):c.4488+7C>T rs374215303 0.00092
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met) rs75813654 0.00091
NM_001039141.3(TRIOBP):c.363C>A (p.Ser121=) rs201843208 0.00091
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser) rs147695488 0.00091
NM_001378609.3(OTOGL):c.4280-5T>C rs200889330 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_014000.3(VCL):c.660C>T (p.Asn220=) rs56264452 0.00091
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_000260.4(MYO7A):c.1554+7C>T rs150114658 0.00090
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627 0.00090
NM_001267550.2(TTN):c.25351+13C>G rs138362885 0.00090
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His) rs200648462 0.00090
NM_001363118.2(SLC52A2):c.228C>T (p.Asp76=) rs111588500 0.00090
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577 0.00090
NM_002471.4(MYH6):c.3297G>A (p.Glu1099=) rs144957142 0.00090
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118 0.00089
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=) rs146442638 0.00089
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_133379.5(TTN):c.13045C>A (p.Pro4349Thr) rs140064945 0.00089
NM_001378609.3(OTOGL):c.2357T>C (p.Phe786Ser) rs192944055 0.00088
NM_001384474.1(LOXHD1):c.3449A>G (p.Gln1150Arg) rs201576880 0.00088
NM_002471.4(MYH6):c.3978+8C>T rs367866050 0.00088
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=) rs76069100 0.00088
NM_002473.6(MYH9):c.615C>T (p.Gly205=) rs139466141 0.00088
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_004999.4(MYO6):c.2175A>G (p.Lys725=) rs116571790 0.00088
NM_022114.4(PRDM16):c.1134C>G (p.Ser378=) rs200169663 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) rs121909281 0.00088
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_144573.4(NEXN):c.1252-10T>G rs201019553 0.00088
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=) rs373182578 0.00087
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His) rs189248390 0.00087
NM_001378373.1(MBL2):c.132C>T (p.Asn44=) rs34120190 0.00087
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=) rs564053026 0.00087
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_001039213.4(CEACAM16):c.519C>T (p.Val173=) rs114645388 0.00086
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) rs146731467 0.00086
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715 0.00086
NM_001145809.2(MYH14):c.1992G>A (p.Pro664=) rs192745436 0.00086
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748 0.00086
NM_002473.6(MYH9):c.5049C>A (p.Ile1683=) rs147419066 0.00086
NM_014000.3(VCL):c.1572C>T (p.Ala524=) rs138566234 0.00086
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553 0.00086
NM_017433.5(MYO3A):c.177C>T (p.Asp59=) rs139958275 0.00085
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser) rs150549897 0.00085
NM_206933.4(USH2A):c.8559-7G>A rs199618999 0.00085
NM_001018116.2(CAVIN4):c.692G>A (p.Arg231Lys) rs114540433 0.00084
NM_001035.3(RYR2):c.231G>A (p.Ala77=) rs376225470 0.00084
NM_001089.3(ABCA3):c.371A>G (p.Asn124Ser) rs142977595 0.00084
NM_001330691.3(CEP78):c.1194A>G (p.Ala398=) rs138501486 0.00084
NM_015404.4(WHRN):c.1992G>A (p.Pro664=) rs142568702 0.00084
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=) rs34803755 0.00084
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_001032283.3(TMPO):c.1119G>A (p.Arg373=) rs144913822 0.00083
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) rs201432372 0.00083
NM_001267550.2(TTN):c.88340C>G (p.Thr29447Arg) rs140201636 0.00083
NM_002473.6(MYH9):c.1242C>T (p.Ile414=) rs138436678 0.00083
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) rs56059137 0.00083
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_022124.6(CDH23):c.7463G>A (p.Arg2488His) rs148149598 0.00083
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) rs202064612 0.00083
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_080680.3(COL11A2):c.5160C>G (p.Ala1720=) rs139647701 0.00083
NM_000257.4(MYH7):c.1395C>T (p.Phe465=) rs45508293 0.00082
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541 0.00082
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_004700.4(KCNQ4):c.465A>C (p.Gly155=) rs145129529 0.00082
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser) rs139592595 0.00082
NM_080680.3(COL11A2):c.4015-8T>C rs377001136 0.00082
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803 0.00081
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) rs202108224 0.00081
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu) rs200049911 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu) rs139258361 0.00081
NM_004568.6(SERPINB6):c.100A>G (p.Met34Val) rs145538358 0.00081
NM_007214.5(SEC63):c.340-7T>C rs1569557 0.00081
NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser) rs199998420 0.00081
NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser) rs115143295 0.00081
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152 0.00081
NM_153700.2(STRC):c.4157T>C (p.Val1386Ala) rs377674360 0.00081
NM_181458.4(PAX3):c.982G>A (p.Val328Ile) rs149799356 0.00081
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_206933.4(USH2A):c.14754G>A (p.Thr4918=) rs150286388 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_001039876.3(SYNE4):c.1020G>A (p.Glu340=) rs186898202 0.00080
NM_001267550.2(TTN):c.32807-10T>A rs138192315 0.00080
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=) rs200459890 0.00080
NM_001378609.3(OTOGL):c.3020T>C (p.Val1007Ala) rs202051419 0.00080
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) rs147576439 0.00080
NM_004517.4(ILK):c.65A>G (p.Asn22Ser) rs114115159 0.00080
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_007373.4(SHOC2):c.-179T>A rs143180451 0.00080
NM_153676.4(USH1C):c.2184+10T>C rs200889109 0.00080
NM_173477.5(USH1G):c.705G>A (p.Glu235=) rs149002004 0.00080
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408 0.00079
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His) rs139375212 0.00079
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) rs200532919 0.00079
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988 0.00079
NM_000091.5(COL4A3):c.573T>C (p.Pro191=) rs375503109 0.00078
NM_000257.4(MYH7):c.261C>T (p.Ile87=) rs148560996 0.00078
NM_001006630.2(CHRM2):c.1114C>G (p.Pro372Ala) rs138806839 0.00078
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688 0.00078
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) rs150069819 0.00078
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338 0.00078
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00078
NM_001267550.2(TTN):c.54812-5A>G rs375343798 0.00078
NM_001267550.2(TTN):c.98683+7G>C rs141150066 0.00078
NM_001292063.2(OTOG):c.6827C>T (p.Thr2276Ile) rs569603083 0.00078
NM_001363118.2(SLC52A2):c.1066C>T (p.Leu356=) rs138107380 0.00078
NM_001371333.1(DIABLO):c.8C>G (p.Ala3Gly) rs202028496 0.00078
NM_002473.6(MYH9):c.1843+14C>A rs372865551 0.00078
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065 0.00078
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=) rs200946170 0.00078
NM_032119.4(ADGRV1):c.10952A>G (p.Tyr3651Cys) rs200106260 0.00078
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302 0.00078
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000258.3(MYL3):c.559+6C>T rs199474709 0.00077
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098 0.00077
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214 0.00077
NM_001371333.1(DIABLO):c.546C>T (p.Thr182=) rs149387774 0.00077
NM_016239.4(MYO15A):c.969G>A (p.Ser323=) rs371387378 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_144573.4(NEXN):c.777A>G (p.Gln259=) rs375544798 0.00077
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00077
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973 0.00076
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_000432.4(MYL2):c.36C>T (p.Gly12=) rs139794370 0.00076
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr) rs142036299 0.00076
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met) rs148551876 0.00076
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674 0.00076
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306 0.00076
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872 0.00076
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_003803.4(MYOM1):c.5019C>T (p.Ala1673=) rs199980922 0.00076
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) rs149846741 0.00076
NM_024915.4(GRHL2):c.804C>T (p.Thr268=) rs55682875 0.00076
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=) rs139404261 0.00076
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys) rs201236317 0.00076
NM_032578.4(MYPN):c.2228C>T (p.Pro743Leu) rs138583865 0.00076
NM_144991.3(TSPEAR):c.1515G>A (p.Ser505=) rs150444121 0.00076
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450 0.00076
NM_207034.3(EDN3):c.588+48C>T rs200659956 0.00076
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_001039213.4(CEACAM16):c.999C>T (p.Asp333=) rs200767877 0.00075
NM_001145809.2(MYH14):c.4617T>G (p.Arg1539=) rs375866139 0.00075
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967 0.00075
NM_014000.3(VCL):c.1348A>C (p.Arg450=) rs142128712 0.00075
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988 0.00075
NM_022124.6(CDH23):c.4512C>G (p.Thr1504=) rs562273075 0.00075
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121 0.00074
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428 0.00074
NM_003280.3(TNNC1):c.201C>T (p.Asp67=) rs150881554 0.00074
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile) rs61758992 0.00074
NM_014908.4(DOLK):c.671A>T (p.Asp224Val) rs17485436 0.00074
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568 0.00074
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244 0.00074
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445 0.00073
NM_001005242.3(PKP2):c.1171-10T>C rs200122872 0.00073
NM_001114753.3(ENG):c.219+22C>T rs370257876 0.00073
NM_001384140.1(PCDH15):c.1653G>A (p.Gly551=) rs141281651 0.00073
NM_001384140.1(PCDH15):c.243G>A (p.Val81=) rs151119732 0.00073
NM_001384474.1(LOXHD1):c.2684C>G (p.Thr895Ser) rs115042043 0.00073
NM_002458.3(MUC5B):c.14584G>A (p.Gly4862Ser) rs191989562 0.00073
NM_005422.4(TECTA):c.2604G>T (p.Thr868=) rs139509847 0.00073
NM_016239.4(MYO15A):c.10393C>T (p.Arg3465Trp) rs201028204 0.00073
NM_144991.3(TSPEAR):c.1107G>A (p.Thr369=) rs145868820 0.00073
NM_194248.3(OTOF):c.2076G>T (p.Arg692=) rs138769870 0.00073
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255 0.00073
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753 0.00072
NM_001105206.3(LAMA4):c.2950G>A (p.Val984Ile) rs145648026 0.00072
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_001292063.2(OTOG):c.3006+11G>A rs150247729 0.00072
NM_001378609.3(OTOGL):c.2551G>A (p.Asp851Asn) rs112430701 0.00072
NM_017433.5(MYO3A):c.546G>T (p.Arg182=) rs148349532 0.00072
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=) rs148291450 0.00072
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=) rs151229044 0.00072
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) rs201667254 0.00072
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=) rs377283955 0.00071
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00071
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795 0.00071
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) rs199910006 0.00071
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn) rs111033261 0.00071
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839 0.00071
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) rs148118523 0.00071
NM_000335.5(SCN5A):c.5793G>A (p.Ala1931=) rs200594132 0.00070
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr) rs139520402 0.00070
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00070
NM_001292063.2(OTOG):c.3229A>G (p.Ile1077Val) rs56359117 0.00070
NM_001369.3(DNAH5):c.8224+15G>A rs148099176 0.00070
NM_001692.4(ATP6V1B1):c.688-7T>C rs193240706 0.00070
NM_006073.4(TRDN):c.84C>T (p.Pro28=) rs145992727 0.00070
NM_006383.4(CIB2):c.523A>C (p.Lys175Gln) rs200546031 0.00070
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_030662.4(MAP2K2):c.823C>T (p.Leu275=) rs145934142 0.00070
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980 0.00070
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_206933.4(USH2A):c.5409C>G (p.Val1803=) rs140326085 0.00070
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743 0.00069
NM_000363.5(TNNI3):c.25-4C>T rs202086705 0.00069
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193 0.00069
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=) rs191266255 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_017433.5(MYO3A):c.3729G>A (p.Arg1243=) rs146832858 0.00069
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731 0.00069
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129 0.00068
NM_001283009.2(RTEL1):c.1349-13C>T rs376698655 0.00068
NM_001283009.2(RTEL1):c.1349-14C>T rs373301404 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met) rs145502954 0.00068
NM_005379.4(MYO1A):c.659G>A (p.Arg220Gln) rs114674819 0.00068
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser) rs139185707 0.00068
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=) rs139965967 0.00068
NM_001127217.3(SMAD9):c.1035G>A (p.Val345=) rs150237947 0.00067
NM_001292063.2(OTOG):c.4627G>A (p.Ala1543Thr) rs545740473 0.00067
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=) rs144290224 0.00067
NM_001734.5(C1S):c.1284C>G (p.Pro428=) rs144851896 0.00067
NM_002458.3(MUC5B):c.17044G>A (p.Glu5682Lys) rs200719329 0.00067
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys) rs200392821 0.00067
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln) rs147088274 0.00067
NM_206933.4(USH2A):c.14322C>T (p.Ser4774=) rs147037435 0.00067
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001347886.2(DNAH3):c.1842T>C (p.Asp614=) rs144106056 0.00066
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_002458.3(MUC5B):c.3846C>T (p.Gly1282=) rs141821939 0.00066
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=) rs77416370 0.00066
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr) rs151036570 0.00066
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=) rs144179406 0.00066
NM_002473.6(MYH9):c.591G>A (p.Ser197=) rs140241271 0.00066
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735 0.00066
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His) rs201416399 0.00066
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=) rs200463088 0.00065
NM_002471.4(MYH6):c.1779C>A (p.Gly593=) rs190996339 0.00065
NM_006393.3(NEBL):c.994G>A (p.Val332Ile) rs150518045 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=) rs201338158 0.00065
NM_030662.4(MAP2K2):c.1093-6T>C rs369681843 0.00065
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser) rs139921272 0.00065
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572 0.00065
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504 0.00065
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=) rs144465613 0.00064
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) rs111033229 0.00064
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266 0.00064
NM_001384474.1(LOXHD1):c.1162A>G (p.Ile388Val) rs115395163 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_003803.4(MYOM1):c.5001G>A (p.Glu1667=) rs376007739 0.00064
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser) rs144918959 0.00064
NM_153700.2(STRC):c.4399G>A (p.Val1467Ile) rs147447264 0.00064
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=) rs368930040 0.00063
NM_001039141.3(TRIOBP):c.202A>G (p.Thr68Ala) rs200529550 0.00063
NM_001146079.2(CLDN14):c.471G>A (p.Lys157=) rs146860442 0.00063
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848 0.00063
NM_001267550.2(TTN):c.6790+12C>T rs200187117 0.00063
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412 0.00063
NM_001292063.2(OTOG):c.879C>T (p.Asp293=) rs144220847 0.00063
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149 0.00063
NM_001386795.1(DTNA):c.2178A>C (p.Ala726=) rs145486636 0.00063
NM_006005.3(WFS1):c.1779G>C (p.Glu593Asp) rs144783536 0.00063
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421 0.00063
NM_016239.4(MYO15A):c.1634C>T (p.Ala545Val) rs199740747 0.00063
NM_022124.6(CDH23):c.1185C>T (p.Ser395=) rs185105210 0.00063
NM_032578.4(MYPN):c.2703+13G>A rs375320760 0.00063
NM_033360.4(KRAS):c.-48_-29dup rs730880342 0.00063
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00063
NM_001145809.2(MYH14):c.2680C>A (p.Arg894=) rs34805056 0.00062
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe) rs148426950 0.00062
NM_015404.4(WHRN):c.2322C>T (p.Ser774=) rs55966714 0.00062
NM_016239.4(MYO15A):c.5532-10C>T rs200169924 0.00062
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519 0.00061
NM_001039141.3(TRIOBP):c.5166C>G (p.Asp1722Glu) rs183189469 0.00061
NM_001164375.3(C10orf105):c.*3111C>T rs187975106 0.00061
NM_001195263.2(PDZD7):c.156C>T (p.Asn52=) rs150917752 0.00061
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) rs139833874 0.00061
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=) rs370036981 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001292063.2(OTOG):c.6521A>G (p.Asn2174Ser) rs368261417 0.00061
NM_001368067.1(LDB3):c.780C>T (p.Asn260=) rs372789789 0.00061
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=) rs144166521 0.00061
NM_018139.3(DNAAF2):c.423C>T (p.Val141=) rs373251065 0.00061
NM_022124.6(CDH23):c.9198+13C>T rs375384238 0.00061
NM_153676.4(USH1C):c.1086-13G>T rs200490320 0.00061
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065 0.00061
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys) rs138087806 0.00061
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019 0.00060
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_016366.3(CABP2):c.638-10G>A rs188811948 0.00060
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr) rs200115167 0.00060
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494 0.00060
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909 0.00059
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) rs149127072 0.00059
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=) rs72648216 0.00059
NM_024915.4(GRHL2):c.689G>A (p.Ser230Asn) rs140423160 0.00059
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998 0.00059
NM_133261.3(GIPC3):c.207C>T (p.Phe69=) rs727504653 0.00059
NM_133379.5(TTN):c.10920T>C (p.Ser3640=) rs142585268 0.00059
NM_138691.3(TMC1):c.1566+8C>T rs202184917 0.00059
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=) rs200454769 0.00058
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365 0.00058
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=) rs200793989 0.00058
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997 0.00058
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=) rs542151771 0.00058
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771 0.00058
NM_002764.4(PRPS1):c.942C>T (p.Ser314=) rs147731055 0.00058
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096 0.00058
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_206933.4(USH2A):c.485+12T>C rs201857884 0.00058
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile) rs140220538 0.00057
NM_005422.4(TECTA):c.4611C>T (p.Pro1537=) rs138477419 0.00057
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353 0.00057
NM_001110219.3(GJB6):c.405G>A (p.Thr135=) rs145438428 0.00056
NM_001267550.2(TTN):c.58155C>A (p.Pro19385=) rs373587801 0.00056
NM_001267550.2(TTN):c.68792G>A (p.Ser22931Asn) rs201567815 0.00056
NM_001267550.2(TTN):c.92362G>A (p.Gly30788Ser) rs199891245 0.00056
NM_001379180.1(ESRRB):c.*1535G>A rs200237229 0.00056
NM_004999.4(MYO6):c.875T>C (p.Leu292Ser) rs144038082 0.00056
NM_015340.4(LARS2):c.1989G>T (p.Arg663=) rs139111439 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_022124.6(CDH23):c.1514+13C>T rs376369708 0.00056
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val) rs201963060 0.00056
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754 0.00056
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr) rs139486133 0.00056
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00056
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=) rs368221517 0.00055
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00055
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly) rs72646849 0.00055
NM_002473.6(MYH9):c.3216G>A (p.Ala1072=) rs139441456 0.00055
NM_004086.3(COCH):c.429A>G (p.Pro143=) rs147841606 0.00055
NM_004281.4(BAG3):c.870C>G (p.Pro290=) rs140737221 0.00055
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746 0.00055
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=) rs138574576 0.00054
NM_000257.4(MYH7):c.3777C>T (p.His1259=) rs149103761 0.00054
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684 0.00054
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756 0.00054
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys) rs141169746 0.00054
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_002471.4(MYH6):c.3573C>T (p.Ala1191=) rs727505358 0.00054
NM_002473.6(MYH9):c.1566G>A (p.Pro522=) rs145517108 0.00054
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=) rs140749690 0.00054
NM_003672.4(CDC14A):c.31G>A (p.Ala11Thr) rs140623300 0.00054
NM_003803.4(MYOM1):c.2064G>A (p.Thr688=) rs374462999 0.00054
NM_005379.4(MYO1A):c.376G>A (p.Glu126Lys) rs151045364 0.00054
NM_006393.3(NEBL):c.1008+8C>G rs376842299 0.00054
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr) rs201968775 0.00054
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr) rs45539535 0.00054
NM_016203.4(PRKAG2):c.472G>A (p.Gly158Ser) rs727504512 0.00054
NM_016239.4(MYO15A):c.7473+10G>T rs181355572 0.00054
NM_016366.3(CABP2):c.379+11C>T rs147530804 0.00054
NM_173628.4(DNAH17):c.5217G>A (p.Thr1739=) rs376047406 0.00054
NM_182548.4(LHFPL5):c.615G>C (p.Lys205Asn) rs149081163 0.00054
NM_206933.4(USH2A):c.7301-6C>T rs375499259 0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=) rs140749530 0.00053
NM_001330.5(CTF1):c.280C>T (p.Leu94=) rs397516648 0.00053
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068 0.00053
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) rs147500559 0.00053
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00053
NM_022124.6(CDH23):c.1446C>A (p.Val482=) rs200324241 0.00053
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile) rs200786014 0.00053
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala) rs201890097 0.00053
NM_147196.3(TMIE):c.219G>A (p.Thr73=) rs202208051 0.00053
NM_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu) rs147393144 0.00053
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691 0.00052
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val) rs149615862 0.00052
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile) rs199798449 0.00052
NM_005379.4(MYO1A):c.2302C>T (p.Arg768Trp) rs143613424 0.00052
NM_194248.3(OTOF):c.237G>A (p.Gly79=) rs117985483 0.00052
NM_000260.4(MYO7A):c.486C>T (p.Ala162=) rs367687624 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=) rs370297602 0.00051
NM_001103.4(ACTN2):c.927C>T (p.Pro309=) rs145411160 0.00051
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073 0.00051
NM_001195248.2(APTX):c.484-13del rs754565169 0.00051
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met) rs139814109 0.00051
NM_001256317.3(TMPRSS3):c.347T>C (p.Val116Ala) rs201007237 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu) rs192788942 0.00051
NM_001292063.2(OTOG):c.6937C>T (p.Pro2313Ser) rs543999548 0.00051
NM_001292063.2(OTOG):c.7975G>A (p.Val2659Met) rs542442173 0.00051
NM_001367479.1(DNAH14):c.7830T>C (p.Asp2610=) rs560792252 0.00051
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_003803.4(MYOM1):c.2656A>G (p.Ser886Gly) rs199900004 0.00051
NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr) rs147042608 0.00051
NM_015340.4(LARS2):c.2211T>C (p.Ser737=) rs371382425 0.00051
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539 0.00051
NM_017780.4(CHD7):c.2829G>A (p.Glu943=) rs374877439 0.00051
NM_020297.4(ABCC9):c.372T>C (p.Asn124=) rs377384557 0.00051
NM_022114.4(PRDM16):c.142G>A (p.Val48Met) rs199968728 0.00051
NM_022124.6(CDH23):c.67+8C>T rs186548927 0.00051
NM_144991.3(TSPEAR):c.1698C>T (p.Tyr566=) rs62218852 0.00051
NM_144991.3(TSPEAR):c.943G>A (p.Val315Met) rs148421362 0.00051
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126 0.00050
NM_001146079.2(CLDN14):c.690C>T (p.His230=) rs149733854 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
NM_001692.4(ATP6V1B1):c.1236C>G (p.Val412=) rs147229014 0.00050
NM_005422.4(TECTA):c.1509C>T (p.Cys503=) rs61733565 0.00050
NM_005633.4(SOS1):c.345+12_345+13dup rs397517167 0.00050
NM_000257.4(MYH7):c.2907C>T (p.His969=) rs142573531 0.00049
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656 0.00049
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_001105206.3(LAMA4):c.1668+9G>A rs201457182 0.00049
NM_001105206.3(LAMA4):c.4665+15G>A rs377415750 0.00049
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00049
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=) rs370080995 0.00049
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00049
NM_001378609.3(OTOGL):c.119+7A>G rs753923439 0.00049
NM_002230.4(JUP):c.1054+7A>T rs371988639 0.00049
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_004230.4(S1PR2):c.923C>T (p.Pro308Leu) rs200973983 0.00049
NM_005633.4(SOS1):c.1203-13T>A rs145166996 0.00049
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile) rs201734915 0.00049
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=) rs182990046 0.00049
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_206933.4(USH2A):c.8805C>T (p.Val2935=) rs111033534 0.00049
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402 0.00048
NM_000138.5(FBN1):c.5065+10A>G rs375945405 0.00048
NM_000258.3(MYL3):c.482-14C>A rs201780962 0.00048
NM_000503.6(EYA1):c.1699-8T>C rs201537030 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001103.4(ACTN2):c.1519A>G (p.Met507Val) rs144553482 0.00048
NM_001103.4(ACTN2):c.2367+8A>G rs112714025 0.00048
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_001292063.2(OTOG):c.4246C>T (p.Arg1416Trp) rs559512010 0.00048
NM_001292063.2(OTOG):c.7209C>T (p.Ser2403=) rs56236649 0.00048
NM_001292063.2(OTOG):c.8322C>T (p.Cys2774=) rs539684481 0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=) rs202020722 0.00048
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) rs376298949 0.00048
NM_032119.4(ADGRV1):c.15240T>C (p.Asn5080=) rs375911753 0.00048
NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys) rs145499180 0.00048
NM_080680.3(COL11A2):c.2431-11G>A rs368695514 0.00048
NM_153700.2(STRC):c.4749G>T (p.Val1583=) rs770417511 0.00048
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_194248.3(OTOF):c.1020C>T (p.Asp340=) rs138250704 0.00048
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_001035.3(RYR2):c.8209-3A>G rs376788358 0.00047
NM_001386795.1(DTNA):c.955A>G (p.Met319Val) rs141981161 0.00047
NM_015340.4(LARS2):c.1008C>T (p.Val336=) rs142803778 0.00047
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_022124.6(CDH23):c.4947G>A (p.Thr1649=) rs373046094 0.00047
NM_024915.4(GRHL2):c.454G>A (p.Val152Met) rs147703146 0.00047
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala) rs146445078 0.00047
NM_206933.4(USH2A):c.9258+15T>C rs181894778 0.00047
NM_000335.5(SCN5A):c.3663+10T>C rs200656652 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_001031679.3(MSRB3):c.-110C>T rs150572160 0.00046
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00046
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00046
NM_001035.3(RYR2):c.7233C>T (p.Ala2411=) rs367994477 0.00046
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523 0.00046
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_001267550.2(TTN):c.65276-8T>C rs377484398 0.00046
NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys) rs201272728 0.00046
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=) rs151274810 0.00046
NM_001379180.1(ESRRB):c.949G>A (p.Asp317Asn) rs145982062 0.00046
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys) rs199518750 0.00046
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_005228.5(EGFR):c.2289C>G (p.Ala763=) rs117420095 0.00046
NM_005228.5(EGFR):c.2748C>T (p.Asp916=) rs41396448 0.00046
NM_005379.4(MYO1A):c.1340G>A (p.Arg447Gln) rs138679694 0.00046
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro) rs201826872 0.00046
NM_022114.4(PRDM16):c.3110-4G>A rs201495178 0.00046
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00046
NM_144672.4(OTOA):c.120+10C>G rs200215069 0.00046
NM_144991.3(TSPEAR):c.1878C>T (p.Phe626=) rs150268113 0.00046
NM_174878.3(CLRN1):c.433+1106T>C rs140407590 0.00046
NM_181458.4(PAX3):c.9G>A (p.Thr3=) rs377366463 0.00046
NM_000091.5(COL4A3):c.2826C>T (p.Pro942=) rs201064766 0.00045
NM_001146079.2(CLDN14):c.102G>A (p.Ala34=) rs146395322 0.00045
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=) rs144094650 0.00045
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr) rs141027782 0.00045
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918 0.00045
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00045
NM_001292063.2(OTOG):c.94+75G>T rs550807341 0.00045
NM_001378609.3(OTOGL):c.4146C>A (p.Pro1382=) rs374853700 0.00045
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=) rs146796009 0.00045
NM_002471.4(MYH6):c.1141+8G>T rs377327277 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_014908.4(DOLK):c.525T>G (p.Val175=) rs200278288 0.00045
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile) rs141011840 0.00045
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln) rs139193948 0.00045
NM_016239.4(MYO15A):c.7665C>T (p.Ser2555=) rs183834387 0.00045
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522 0.00045
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829 0.00045
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_144573.4(NEXN):c.732C>A (p.Pro244=) rs201171783 0.00045
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_001105206.3(LAMA4):c.641G>A (p.Arg214His) rs139146419 0.00044
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330 0.00044
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr) rs149659876 0.00044
NM_004817.4(TJP2):c.2880+19C>T rs200384355 0.00044
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys) rs181571822 0.00044
NM_014000.3(VCL):c.1237G>A (p.Ala413Thr) rs146278697 0.00044
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=) rs35541310 0.00044
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile) rs201364852 0.00044
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513 0.00044
NM_138691.3(TMC1):c.1602C>G (p.Thr534=) rs111033462 0.00044
NM_170682.4(P2RX2):c.1176T>C (p.Pro392=) rs189869132 0.00044
NM_194248.3(OTOF):c.894C>T (p.Asn298=) rs112794890 0.00044
NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=) rs191358470 0.00044
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906 0.00043
NM_000260.4(MYO7A):c.1422G>A (p.Gln474=) rs201332147 0.00043
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926 0.00043
NM_001031679.3(MSRB3):c.-95C>T rs149757878 0.00043
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048 0.00043
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) rs375811590 0.00043
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133 0.00043
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln) rs201622536 0.00043
NM_001378609.3(OTOGL):c.792A>G (p.Gln264=) rs144176460 0.00043
NM_001384140.1(PCDH15):c.942A>G (p.Gln314=) rs149481989 0.00043
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) rs143048583 0.00043
NM_005379.4(MYO1A):c.2228T>C (p.Ile743Thr) rs145027196 0.00043
NM_000256.3(MYBPC3):c.926+8C>T rs377595584 0.00042
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=) rs200285003 0.00042
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971 0.00042
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00042
NM_003803.4(MYOM1):c.2385-13G>A rs116126674 0.00042
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe) rs200606811 0.00042
NM_005219.5(DIAPH1):c.2358+15C>G rs375375478 0.00042
NM_005379.4(MYO1A):c.658C>T (p.Arg220Trp) rs144009842 0.00042
NM_006073.4(TRDN):c.546G>A (p.Lys182=) rs377594350 0.00042
NM_133379.5(TTN):c.10617T>C (p.His3539=) rs200284932 0.00042
NM_133379.5(TTN):c.14616C>T (p.Ser4872=) rs148105798 0.00042
NM_000091.5(COL4A3):c.21C>A (p.Pro7=) rs530353117 0.00041
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547 0.00041
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009 0.00041
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056 0.00041
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser) rs201728165 0.00041
NM_001267550.2(TTN):c.30433+11T>G rs199848546 0.00041
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=) rs374281025 0.00041
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=) rs186402008 0.00041
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212 0.00041
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828 0.00041
NM_004700.4(KCNQ4):c.1413T>C (p.Gly471=) rs144810195 0.00041
NM_004817.4(TJP2):c.918C>T (p.Ile306=) rs374523970 0.00041
NM_005422.4(TECTA):c.2299C>A (p.Arg767=) rs140534420 0.00041
NM_006005.3(WFS1):c.2202C>T (p.Leu734=) rs140427062 0.00041
NM_016239.4(MYO15A):c.7068C>T (p.Asp2356=) rs373935449 0.00041
NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val) rs56261037 0.00041
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=) rs370184182 0.00041
NM_024334.3(TMEM43):c.45C>A (p.Val15=) rs150334659 0.00041
NM_024747.6(HPS6):c.2250G>A (p.Ser750=) rs139161525 0.00041
NM_144573.4(NEXN):c.1785C>T (p.Asp595=) rs182998780 0.00041
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) rs201401001 0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_001039141.3(TRIOBP):c.4103G>A (p.Arg1368Gln) rs182816010 0.00040
NM_001039141.3(TRIOBP):c.6324+235C>T rs146823511 0.00040
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344 0.00040
NM_001292063.2(OTOG):c.4021C>T (p.Arg1341Trp) rs200215464 0.00040
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_004281.4(BAG3):c.888C>T (p.His296=) rs139399890 0.00040
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924 0.00040
NM_006005.3(WFS1):c.402G>A (p.Ala134=) rs199533137 0.00040
NM_022114.4(PRDM16):c.102G>A (p.Ala34=) rs374918897 0.00040
NM_032578.4(MYPN):c.2190G>A (p.Thr730=) rs71584492 0.00040
NM_194248.3(OTOF):c.1116C>T (p.Tyr372=) rs147595264 0.00040
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746 0.00040
NM_194248.3(OTOF):c.80-5C>T rs531034566 0.00040
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00039
NM_001145809.2(MYH14):c.5778C>T (p.Leu1926=) rs201839634 0.00039
NM_001256317.3(TMPRSS3):c.1272C>T (p.Cys424=) rs56178910 0.00039
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00039
NM_001267550.2(TTN):c.32197+11G>A rs369265969 0.00039
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_002473.6(MYH9):c.769+15C>T rs201691359 0.00039
NM_004415.4(DSP):c.4500G>T (p.Leu1500=) rs372881903 0.00039
NM_015404.4(WHRN):c.1678G>A (p.Ala560Thr) rs182072601 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_020297.4(ABCC9):c.3030T>C (p.Ala1010=) rs76102634 0.00039
NM_194248.3(OTOF):c.5991C>T (p.Ala1997=) rs150691499 0.00039
NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704 0.00038
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266 0.00038
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=) rs397516505 0.00038
NM_001039876.3(SYNE4):c.128+10G>A rs376639796 0.00038
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu) rs141181035 0.00038
NM_001243133.2(NLRP3):c.1645T>C (p.Leu549=) rs144469697 0.00038
NM_001267550.2(TTN):c.180T>C (p.Asp60=) rs144750850 0.00038
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540 0.00038
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153 0.00038
NM_001267550.2(TTN):c.87137T>G (p.Met29046Arg) rs143975327 0.00038
NM_020297.4(ABCC9):c.1200G>A (p.Thr400=) rs150096625 0.00038
NM_021167.5(GATAD1):c.249+13G>A rs548757932 0.00038
NM_032119.4(ADGRV1):c.6975T>C (p.Asp2325=) rs202030777 0.00038
NM_080680.3(COL11A2):c.2064A>G (p.Gly688=) rs753871660 0.00038
NM_144672.4(OTOA):c.2207+9C>T rs374535775 0.00038
NM_178335.3(CCDC50):c.1429+5G>A rs375535283 0.00038
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_001384140.1(PCDH15):c.913C>G (p.Gln305Glu) rs143058902 0.00037
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn) rs144415484 0.00037
NM_016239.4(MYO15A):c.6112C>T (p.Arg2038Cys) rs146633221 0.00037
NM_017433.5(MYO3A):c.3352A>G (p.Thr1118Ala) rs138955440 0.00037
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_032229.3(SLITRK6):c.903G>A (p.Thr301=) rs145725721 0.00037
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 0.00037
NM_033118.4(MYLK2):c.783G>A (p.Pro261=) rs144621796 0.00037
NM_057176.3(BSND):c.*14C>T rs187356092 0.00037
NM_153700.2(STRC):c.4593T>C (p.Leu1531=) rs201633242 0.00037
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000256.3(MYBPC3):c.906-7G>T rs397516079 0.00036
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_001103.4(ACTN2):c.1975-12C>T rs371352710 0.00036
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro) rs199971778 0.00036
NM_001145809.2(MYH14):c.1115-4C>T rs142696359 0.00036
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val) rs199508062 0.00036
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) rs140942979 0.00036
NM_001277115.2(DNAH11):c.11418C>T (p.Phe3806=) rs187814474 0.00036
NM_001292063.2(OTOG):c.7866C>T (p.Pro2622=) rs200566292 0.00036
NM_001318895.3(FHL2):c.207G>A (p.Ser69=) rs138189036 0.00036
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys) rs140148322 0.00036
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_002230.4(JUP):c.633C>T (p.Asn211=) rs372145644 0.00036
NM_004415.4(DSP):c.8199G>C (p.Thr2733=) rs145085696 0.00036
NM_004568.6(SERPINB6):c.996C>T (p.Ala332=) rs147792064 0.00036
NM_005188.4(CBL):c.12C>T (p.Asn4=) rs371567712 0.00036
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_006393.3(NEBL):c.1962+7A>G rs371630900 0.00036
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro) rs143764931 0.00036
NM_016239.4(MYO15A):c.10403G>A (p.Arg3468Gln) rs200456053 0.00036
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00036
NM_017433.5(MYO3A):c.3000-11T>C rs375346333 0.00036
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) rs145602856 0.00036
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=) rs376636949 0.00036
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563 0.00036
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637 0.00035
NM_000260.4(MYO7A):c.6558+9G>A rs111033184 0.00035
NM_000260.4(MYO7A):c.849+7C>G rs370740228 0.00035
NM_001018116.2(CAVIN4):c.519G>C (p.Ser173=) rs145794010 0.00035
NM_001039141.3(TRIOBP):c.4329A>G (p.Leu1443=) rs547759535 0.00035
NM_001105206.3(LAMA4):c.141G>A (p.Pro47=) rs141926228 0.00035
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690 0.00035
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys) rs376800688 0.00035
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205 0.00035
NM_001292063.2(OTOG):c.1623G>A (p.Leu541=) rs755383141 0.00035
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile) rs545321215 0.00035
NM_004086.3(COCH):c.786A>G (p.Val262=) rs375612298 0.00035
NM_004999.4(MYO6):c.18C>T (p.Pro6=) rs138024490 0.00035
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833 0.00035
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216 0.00035
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) rs373457993 0.00035
NM_024915.4(GRHL2):c.543G>A (p.Glu181=) rs200674096 0.00035
NM_144573.4(NEXN):c.512T>C (p.Ile171Thr) rs372065024 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963 0.00034
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=) rs376826051 0.00034
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=) rs142362933 0.00034
NM_001031679.3(MSRB3):c.483T>C (p.Pro161=) rs141532859 0.00034
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_001035.3(RYR2):c.463+6dup rs397516534 0.00034
NM_001039141.3(TRIOBP):c.4497T>G (p.Thr1499=) rs139919698 0.00034
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys) rs201117318 0.00034
NM_001145809.2(MYH14):c.5960+8C>T rs373176553 0.00034
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691 0.00034
NM_001378454.1(ALMS1):c.9861A>G (p.Pro3287=) rs114687298 0.00034
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=) rs202132383 0.00034
NM_002524.5(NRAS):c.360G>A (p.Leu120=) rs143020946 0.00034
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=) rs201149420 0.00034
NM_005422.4(TECTA):c.199-4G>A rs373736415 0.00034
NM_005422.4(TECTA):c.5273-8del rs727504781 0.00034
NM_007078.3(LDB3):c.732C>T (p.Pro244=) rs144509718 0.00034
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) rs201540919 0.00034
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=) rs146618055 0.00034
NM_032119.4(ADGRV1):c.11562C>T (p.Ala3854=) rs182115637 0.00034
NM_057176.3(BSND):c.309G>C (p.Glu103Asp) rs200246335 0.00034
NM_138691.3(TMC1):c.1019T>C (p.Met340Thr) rs111033464 0.00034
NM_147196.3(TMIE):c.102G>A (p.Thr34=) rs201107982 0.00034
NM_198253.3(TERT):c.219+7C>T rs573817924 0.00034
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754 0.00033
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu) rs141355480 0.00033
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_005228.5(EGFR):c.2355C>T (p.Thr785=) rs148188503 0.00033
NM_005379.4(MYO1A):c.1770G>A (p.Lys590=) rs200927840 0.00033
NM_006073.4(TRDN):c.1472-13C>T rs367962513 0.00033
NM_006941.4(SOX10):c.753G>A (p.Ser251=) rs376907937 0.00033
NM_014000.3(VCL):c.492T>G (p.Leu164=) rs143702799 0.00033
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser) rs146693681 0.00033
NM_020433.5(JPH2):c.1107T>C (p.Ser369=) rs148311735 0.00033
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser) rs200496467 0.00033
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) rs201989155 0.00032
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_000256.3(MYBPC3):c.1863C>T (p.Phe621=) rs193922378 0.00032
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669 0.00032
NM_000432.4(MYL2):c.342G>A (p.Leu114=) rs199572927 0.00032
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_001267550.2(TTN):c.11583C>T (p.Thr3861=) rs11899887 0.00032
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842 0.00032
NM_001267550.2(TTN):c.39128-14T>C rs200916144 0.00032
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287 0.00032
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=) rs138313387 0.00032
NM_001292063.2(OTOG):c.4002C>T (p.Phe1334=) rs545896255 0.00032
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_002473.6(MYH9):c.1491C>T (p.Ile497=) rs146487404 0.00032
NM_002880.4(RAF1):c.-59C>A rs201603517 0.00032
NM_004415.4(DSP):c.531C>G (p.Gly177=) rs138865799 0.00032
NM_005422.4(TECTA):c.552C>T (p.Tyr184=) rs148364865 0.00032
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln) rs200697103 0.00032
NM_016239.4(MYO15A):c.9613-13C>T rs368335921 0.00032
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=) rs202066007 0.00032
NM_133261.3(GIPC3):c.319C>A (p.Arg107=) rs138707041 0.00032
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_000260.4(MYO7A):c.6013A>G (p.Lys2005Glu) rs186644871 0.00031
NM_000335.5(SCN5A):c.456C>T (p.Asp152=) rs190803993 0.00031
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met) rs201829896 0.00031
NM_001039141.3(TRIOBP):c.6324+191G>A rs181741158 0.00031
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser) rs191901426 0.00031
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=) rs373050209 0.00031
NM_001105206.3(LAMA4):c.4626T>C (p.Ile1542=) rs150791451 0.00031
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466 0.00031
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met) rs117287351 0.00031
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=) rs372382315 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_001267550.2(TTN):c.86526T>G (p.Val28842=) rs72648226 0.00031
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg) rs189432084 0.00031
NM_001292063.2(OTOG):c.1806C>T (p.Ser602=) rs536715287 0.00031
NM_001369.3(DNAH5):c.11570+8T>C rs369789559 0.00031
NM_001614.5(ACTG1):c.364-8C>T rs201748657 0.00031
NM_002458.3(MUC5B):c.3483T>C (p.His1161=) rs376955587 0.00031
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=) rs150450178 0.00031
NM_002473.6(MYH9):c.2500-14A>G rs199505086 0.00031
NM_002700.3(POU4F3):c.421C>A (p.Pro141Thr) rs139312280 0.00031
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_004985.5(KRAS):c.451-5565G>A rs200970347 0.00031
NM_006005.3(WFS1):c.594G>A (p.Ala198=) rs563931269 0.00031
NM_014000.3(VCL):c.1626C>T (p.Leu542=) rs150402791 0.00031
NM_014908.4(DOLK):c.1394G>A (p.Arg465His) rs148930043 0.00031
NM_020297.4(ABCC9):c.2154C>T (p.Ile718=) rs74067815 0.00031
NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=) rs138280089 0.00031
NM_024334.3(TMEM43):c.442+7G>A rs373590238 0.00031
NM_033118.4(MYLK2):c.1176C>T (p.Asp392=) rs147099889 0.00031
NM_133261.3(GIPC3):c.20G>A (p.Arg7Gln) rs998073430 0.00031
NM_133261.3(GIPC3):c.440G>A (p.Arg147Gln) rs141293401 0.00031
NM_144498.4(OSBPL2):c.429C>G (p.Ser143=) rs142341897 0.00031
NM_194248.3(OTOF):c.2859C>T (p.Val953=) rs77414333 0.00031
NM_000256.3(MYBPC3):c.772+10C>T rs375525278 0.00030
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_001005242.3(PKP2):c.1863G>A (p.Pro621=) rs146144731 0.00030
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=) rs55821172 0.00030
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr) rs371452173 0.00030
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=) rs371945519 0.00030
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=) rs372686070 0.00030
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870 0.00030
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146 0.00030
NM_001378454.1(ALMS1):c.1161T>C (p.His387=) rs191091347 0.00030
NM_001378609.3(OTOGL):c.2628C>T (p.Asn876=) rs371565107 0.00030
NM_001384474.1(LOXHD1):c.2100G>A (p.Thr700=) rs367826075 0.00030
NM_001386795.1(DTNA):c.51G>A (p.Gln17=) rs368000651 0.00030
NM_002458.3(MUC5B):c.3926C>T (p.Thr1309Met) rs200226020 0.00030
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_002471.4(MYH6):c.4611G>A (p.Val1537=) rs142983918 0.00030
NM_003280.3(TNNC1):c.108C>A (p.Ile36=) rs202000367 0.00030
NM_015340.4(LARS2):c.1622+8G>A rs202009605 0.00030
NM_022124.6(CDH23):c.9087G>A (p.Gln3029=) rs376098894 0.00030
NM_030662.4(MAP2K2):c.303+12G>A rs376432107 0.00030
NM_206933.4(USH2A):c.9495T>C (p.Asp3165=) rs41305094 0.00030
NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=) rs372838090 0.00029
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000257.4(MYH7):c.5725C>A (p.Arg1909=) rs146796870 0.00029
NM_000260.4(MYO7A):c.3925-8G>A rs367645097 0.00029
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327 0.00029
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000414.4(HSD17B4):c.1261+14A>G rs371682983 0.00029
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_001018005.2(TPM1):c.375-5T>C rs377061868 0.00029
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575 0.00029
NM_001145809.2(MYH14):c.1026G>A (p.Pro342=) rs368124508 0.00029
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=) rs192668758 0.00029
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His) rs138946894 0.00029
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790 0.00029
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=) rs372528823 0.00029
NM_001267550.2(TTN):c.4645+8G>T rs144456585 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001286445.3(RIPOR2):c.1329G>A (p.Ala443=) rs200686463 0.00029
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197 0.00029
NM_002230.4(JUP):c.459C>T (p.Asp153=) rs376289528 0.00029
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_002471.4(MYH6):c.981C>T (p.Ser327=) rs148407931 0.00029
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val) rs144080051 0.00029
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_003036.4(SKI):c.312A>T (p.Val104=) rs368195821 0.00029
NM_004086.3(COCH):c.1128C>T (p.Ser376=) rs146166304 0.00029
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_014000.3(VCL):c.366G>A (p.Leu122=) rs199562976 0.00029
NM_014476.6(PDLIM3):c.195G>A (p.Ala65=) rs148570356 0.00029
NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp) rs138121304 0.00029
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His) rs201794696 0.00029
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728 0.00029
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=) rs145561881 0.00029
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=) rs150833333 0.00029
NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=) rs373352597 0.00029
NM_033118.4(MYLK2):c.786A>G (p.Pro262=) rs727504437 0.00029
NM_133379.5(TTN):c.13123G>T (p.Ala4375Ser) rs72647902 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_181507.2(HPS5):c.85C>A (p.Arg29=) rs138638048 0.00029
NM_206933.4(USH2A):c.2167+11C>T rs139647897 0.00029
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=) rs370945942 0.00028
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=) rs373656667 0.00028
NM_000601.6(HGF):c.885C>T (p.Asp295=) rs141751290 0.00028
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=) rs368119524 0.00028
NM_001039876.3(SYNE4):c.638C>T (p.Thr213Met) rs199916743 0.00028
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_001199799.2(ILDR1):c.1159T>C (p.Ser387Pro) rs150250182 0.00028
NM_001232.4(CASQ2):c.861C>A (p.Ile287=) rs143718767 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=) rs373223049 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257 0.00028
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00028
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=) rs114557260 0.00028
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln) rs142009291 0.00028
NM_004281.4(BAG3):c.771C>T (p.Pro257=) rs200212999 0.00028
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=) rs376881824 0.00028
NM_032119.4(ADGRV1):c.17871G>A (p.Ala5957=) rs373800116 0.00028
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=) rs146884759 0.00028
NM_144573.4(NEXN):c.242A>T (p.Asp81Val) rs367871780 0.00028
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val) rs143352618 0.00028
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met) rs142511345 0.00027
NM_000503.6(EYA1):c.1734G>A (p.Ser578=) rs770876882 0.00027
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=) rs143587921 0.00027
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420 0.00027
NM_001292063.2(OTOG):c.8022G>A (p.Pro2674=) rs753850661 0.00027
NM_001354604.2(MITF):c.1182A>G (p.Glu394=) rs137904015 0.00027
NM_001378609.3(OTOGL):c.5736T>C (p.Val1912=) rs368807465 0.00027
NM_002834.3(PTPN11):c.*13A>G rs201957261 0.00027
NM_016239.4(MYO15A):c.9998G>A (p.Arg3333Gln) rs200605472 0.00027
NM_020975.6(RET):c.2673G>A (p.Ser891=) rs201620214 0.00027
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) rs201610096 0.00027
NM_182548.4(LHFPL5):c.321C>T (p.Leu107=) rs200392480 0.00027
NM_194248.3(OTOF):c.3679C>A (p.Arg1227=) rs111033478 0.00027
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) rs111033262 0.00027
NM_000138.5(FBN1):c.2187A>C (p.Leu729=) rs61730055 0.00026
NM_000256.3(MYBPC3):c.1624+14_1624+15insA rs369096037 0.00026
NM_001005242.3(PKP2):c.696C>T (p.Asp232=) rs375677250 0.00026
NM_001039141.3(TRIOBP):c.6792G>A (p.Ser2264=) rs371118329 0.00026
NM_001103.4(ACTN2):c.1406+8C>T rs397516567 0.00026
NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp) rs186968009 0.00026
NM_001134363.3(RBM20):c.2201G>A (p.Arg734Gln) rs372923744 0.00026
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863 0.00026
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895 0.00026
NM_001267550.2(TTN):c.57263-4C>T rs373552048 0.00026
NM_001267550.2(TTN):c.74844G>A (p.Lys24948=) rs371884545 0.00026
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=) rs72648208 0.00026
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=) rs145133144 0.00026
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096 0.00026
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=) rs374081262 0.00026
NM_001292063.2(OTOG):c.7380T>A (p.Asp2460Glu) rs532385451 0.00026
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser) rs201341211 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_005422.4(TECTA):c.5766A>G (p.Thr1922=) rs149602974 0.00026
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566 0.00026
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln) rs199783506 0.00026
NM_016239.4(MYO15A):c.7926G>A (p.Pro2642=) rs372373045 0.00026
NM_017433.5(MYO3A):c.4045G>C (p.Ala1349Pro) rs149521185 0.00026
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124 0.00026
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=) rs140255091 0.00026
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=) rs200874968 0.00026
NM_032119.4(ADGRV1):c.3741G>A (p.Glu1247=) rs371571867 0.00026
NM_032119.4(ADGRV1):c.6242C>G (p.Ser2081Cys) rs201210744 0.00026
NM_144672.4(OTOA):c.739+11A>G rs186092865 0.00026
NM_152594.3(SPRED1):c.377-10A>G rs376134678 0.00026
NM_153700.2(STRC):c.4546-13G>C rs374896210 0.00026
NM_198999.3(SLC26A5):c.498T>C (p.Asn166=) rs151200437 0.00026
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val) rs138326802 0.00026
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671 0.00026
NM_001035.3(RYR2):c.6689-12T>C rs370972311 0.00025
NM_001114086.2(CLIC5):c.360C>T (p.Cys120=) rs370825642 0.00025
NM_001128840.3(CACNA1D):c.4977G>A (p.Ser1659=) rs150463212 0.00025
NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=) rs368984050 0.00025
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=) rs528832388 0.00025
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=) rs148434577 0.00025
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00025
NM_002230.4(JUP):c.1910G>A (p.Arg637His) rs142095597 0.00025
NM_002458.3(MUC5B):c.3584-10C>T rs140245340 0.00025
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=) rs377720622 0.00025
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_004281.4(BAG3):c.645C>T (p.Asn215=) rs138078305 0.00025
NM_004700.4(KCNQ4):c.438G>A (p.Glu146=) rs144434662 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_006005.3(WFS1):c.1470C>T (p.Thr490=) rs146027767 0.00025
NM_007078.3(LDB3):c.1971C>T (p.Cys657=) rs140552419 0.00025
NM_013296.5(GPSM2):c.1631C>T (p.Thr544Met) rs191870755 0.00025
NM_016929.5(CLIC5):c.491C>G (p.Thr164Ser) rs201781198 0.00025
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=) rs111033493 0.00025
NM_022124.6(CDH23):c.9438G>A (p.Ala3146=) rs200572025 0.00025
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480 0.00025
NM_144991.3(TSPEAR):c.542+15G>A rs587599565 0.00025
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met) rs199473648 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000414.4(HSD17B4):c.622+15T>A rs201280286 0.00024
NM_001039876.3(SYNE4):c.625G>A (p.Glu209Lys) rs149470089 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln) rs188996850 0.00024
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=) rs79406408 0.00024
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=) rs75948012 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059 0.00024
NM_001277115.2(DNAH11):c.10411G>A (p.Glu3471Lys) rs117729990 0.00024
NM_001277115.2(DNAH11):c.4945-12T>C rs141572016 0.00024
NM_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu) rs200797401 0.00024
NM_001384474.1(LOXHD1):c.2580G>A (p.Ala860=) rs118140267 0.00024
NM_001384474.1(LOXHD1):c.3561G>A (p.Lys1187=) rs376334860 0.00024
NM_001614.5(ACTG1):c.654C>T (p.Tyr218=) rs182162229 0.00024
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_004086.3(COCH):c.141T>C (p.Asp47=) rs199674735 0.00024
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu) rs199892018 0.00024
NM_005422.4(TECTA):c.2700G>A (p.Ser900=) rs375406423 0.00024
NM_007078.3(LDB3):c.1503C>T (p.Ala501=) rs147692024 0.00024
NM_016599.5(MYOZ2):c.39G>A (p.Gln13=) rs145688699 0.00024
NM_024334.3(TMEM43):c.564C>T (p.Gly188=) rs143124744 0.00024
NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=) rs144850779 0.00024
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=) rs41306255 0.00024
NM_153700.2(STRC):c.4563G>A (p.Arg1521=) rs140729822 0.00024
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=) rs397518016 0.00024
NM_000260.4(MYO7A):c.514C>T (p.Leu172=) rs368246776 0.00023
NM_000503.6(EYA1):c.164C>T (p.Thr55Met) rs201434219 0.00023
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) rs143592561 0.00023
NM_001145809.2(MYH14):c.4943G>A (p.Arg1648Lys) rs727503228 0.00023
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204 0.00023
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His) rs377388499 0.00023
NM_001614.5(ACTG1):c.546C>T (p.Gly182=) rs61997063 0.00023
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr) rs527738649 0.00023
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_002473.6(MYH9):c.3100+7G>A rs553320578 0.00023
NM_004700.4(KCNQ4):c.1572C>T (p.Asp524=) rs568177070 0.00023
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) rs369498603 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_015340.4(LARS2):c.338G>A (p.Arg113Gln) rs138437422 0.00023
NM_016203.4(PRKAG2):c.1585-4G>A rs373649956 0.00023
NM_016239.4(MYO15A):c.3591G>A (p.Pro1197=) rs200222411 0.00023
NM_016239.4(MYO15A):c.8652G>A (p.Ala2884=) rs373922407 0.00023
NM_020297.4(ABCC9):c.3729G>A (p.Ser1243=) rs140182559 0.00023
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139 0.00023
NM_033118.4(MYLK2):c.1308C>T (p.Asn436=) rs369603764 0.00023
NM_144573.4(NEXN):c.1029G>A (p.Ala343=) rs374260457 0.00023
NM_174878.3(CLRN1):c.660C>T (p.Asp220=) rs148752352 0.00023
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe) rs375083165 0.00023
NM_000432.4(MYL2):c.353+12C>A rs186323458 0.00022
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001010892.3(RSPH4A):c.1245G>A (p.Gln415=) rs139726443 0.00022
NM_001032283.3(TMPO):c.252G>T (p.Ala84=) rs727504659 0.00022
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) rs149106800 0.00022
NM_001145809.2(MYH14):c.1155C>T (p.Asn385=) rs558991834 0.00022
NM_001256317.3(TMPRSS3):c.279C>T (p.Asp93=) rs145824109 0.00022
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) rs183336802 0.00022
NM_001267550.2(TTN):c.107377+14C>T rs367908657 0.00022
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=) rs192857526 0.00022
NM_001267550.2(TTN):c.54811+15G>A rs201450276 0.00022
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046 0.00022
NM_001384474.1(LOXHD1):c.2223C>T (p.Leu741=) rs199595156 0.00022
NM_001395849.1(NPIPB5):c.1488C>T (p.Ala496=) rs755632125 0.00022
NM_002471.4(MYH6):c.4137G>A (p.Thr1379=) rs372158844 0.00022
NM_004086.3(COCH):c.22G>A (p.Ala8Thr) rs200935305 0.00022
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552 0.00022
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=) rs145023222 0.00022
NM_005422.4(TECTA):c.2886C>T (p.Ser962=) rs138065050 0.00022
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) rs140125843 0.00022
NM_006393.3(NEBL):c.1449+14G>A rs373699154 0.00022
NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu) rs143155251 0.00022
NM_015512.5(DNAH1):c.5332-14G>A rs375828810 0.00022
NM_022124.6(CDH23):c.945+12G>A rs368487424 0.00022
NM_032119.4(ADGRV1):c.10527C>T (p.Ser3509=) rs201475256 0.00022
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val) rs375921325 0.00022
NM_032119.4(ADGRV1):c.8204A>G (p.Asn2735Ser) rs200604083 0.00022
NM_032229.3(SLITRK6):c.1638C>T (p.Cys546=) rs200014932 0.00022
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln) rs142157418 0.00022
NM_144672.4(OTOA):c.2019C>T (p.Asp673=) rs147901051 0.00022
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu) rs200701839 0.00022
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=) rs189574905 0.00021
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=) rs367738288 0.00021
NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=) rs372328054 0.00021
NM_001010892.3(RSPH4A):c.1734C>T (p.Asp578=) rs188903141 0.00021
NM_001035.3(RYR2):c.1005+13A>G rs552027921 0.00021
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=) rs369917806 0.00021
NM_001039141.3(TRIOBP):c.6007G>A (p.Gly2003Ser) rs397516554 0.00021
NM_001039876.3(SYNE4):c.1127C>T (p.Ala376Val) rs199938988 0.00021
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln) rs150043310 0.00021
NM_001145809.2(MYH14):c.1994C>T (p.Ser665Leu) rs373698416 0.00021
NM_001232.4(CASQ2):c.607-15T>C rs138298959 0.00021
NM_001267550.2(TTN):c.101055T>C (p.Asp33685=) rs372788551 0.00021
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=) rs201129413 0.00021
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457 0.00021
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=) rs72647883 0.00021
NM_001277115.2(DNAH11):c.4254+13G>A rs371484690 0.00021
NM_001354604.2(MITF):c.114C>T (p.Ala38=) rs374097282 0.00021
NM_001354604.2(MITF):c.667-3C>T rs376704147 0.00021
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=) rs111033499 0.00021
NM_001384140.1(PCDH15):c.4671+1642T>C rs182175548 0.00021
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=) rs189550119 0.00021
NM_001384474.1(LOXHD1):c.4611C>T (p.Cys1537=) rs189561302 0.00021
NM_001614.5(ACTG1):c.345C>T (p.Asn115=) rs149057480 0.00021
NM_001927.4(DES):c.736-8C>A rs140375681 0.00021
NM_002471.4(MYH6):c.1839C>G (p.Ser613=) rs138984258 0.00021
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) rs146144708 0.00021
NM_004281.4(BAG3):c.1674G>A (p.Ala558=) rs142981190 0.00021
NM_004281.4(BAG3):c.471G>A (p.Ala157=) rs148985314 0.00021
NM_004568.6(SERPINB6):c.430+3G>A rs201080069 0.00021
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665 0.00021
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser) rs147974629 0.00021
NM_006005.3(WFS1):c.1758C>T (p.Ala586=) rs145144527 0.00021
NM_006393.3(NEBL):c.82-4A>G rs368268112 0.00021
NM_014000.3(VCL):c.1788A>C (p.Ser596=) rs199582103 0.00021
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=) rs201026034 0.00021
NM_016239.4(MYO15A):c.8768G>A (p.Arg2923Gln) rs761180573 0.00021
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_021167.5(GATAD1):c.276T>G (p.Ser92=) rs143082866 0.00021
NM_021167.5(GATAD1):c.48G>A (p.Ser16=) rs376686657 0.00021
NM_022114.4(PRDM16):c.3109+9C>T rs369808146 0.00021
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395 0.00021
NM_022124.6(CDH23):c.551G>A (p.Arg184His) rs201132251 0.00021
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser) rs201457010 0.00021
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=) rs141675061 0.00021
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His) rs202067248 0.00021
NM_133379.5(TTN):c.16020T>C (p.His5340=) rs200378944 0.00021
NM_153676.4(USH1C):c.1386G>A (p.Gln462=) rs141564204 0.00021
NM_206933.4(USH2A):c.1550+10T>C rs200728788 0.00021
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val) rs201710470 0.00021
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_206933.4(USH2A):c.6325+13G>A rs368490585 0.00021
NM_001039141.3(TRIOBP):c.4935A>G (p.Ala1645=) rs371078565 0.00020
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu) rs749285793 0.00020
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile) rs200430493 0.00020
NM_001267550.2(TTN):c.10977G>A (p.Ala3659=) rs369327691 0.00020
NM_001267550.2(TTN):c.14697C>T (p.Ser4899=) rs372740215 0.00020
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser) rs188528174 0.00020
NM_001386795.1(DTNA):c.126G>A (p.Arg42=) rs376001633 0.00020
NM_002471.4(MYH6):c.202-12C>T rs566157802 0.00020
NM_002473.6(MYH9):c.3255C>T (p.Leu1085=) rs142427583 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004006.3(DMD):c.7521C>T (p.Asn2507=) rs112516305 0.00020
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_006005.3(WFS1):c.1632C>T (p.Ser544=) rs140115060 0.00020
NM_006005.3(WFS1):c.762C>T (p.Tyr254=) rs140266808 0.00020
NM_017433.5(MYO3A):c.4073G>A (p.Arg1358Gln) rs141903506 0.00020
NM_022124.6(CDH23):c.5022C>T (p.Ile1674=) rs376952695 0.00020
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555 0.00020
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00020
NM_033337.3(CAV3):c.115-13G>C rs368367319 0.00020
NM_144672.4(OTOA):c.660C>T (p.Tyr220=) rs139292090 0.00020
NM_152732.5(RSPH9):c.421G>A (p.Val141Met) rs2295947 0.00020
NM_170682.4(P2RX2):c.1363G>A (p.Glu455Lys) rs199955493 0.00020
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala) rs144817385 0.00020
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407 0.00020
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_000256.3(MYBPC3):c.207G>C (p.Arg69=) rs397515946 0.00019
NM_000256.3(MYBPC3):c.3276C>T (p.Val1092=) rs376344765 0.00019
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327 0.00019
NM_000257.4(MYH7):c.796+7G>A rs369286647 0.00019
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) rs372623270 0.00019
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) rs727505004 0.00019
NM_000260.4(MYO7A):c.904C>T (p.Arg302Cys) rs781922871 0.00019
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=) rs2303156 0.00019
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_000501.4(ELN):c.427+9G>A rs370752724 0.00019
NM_001039213.4(CEACAM16):c.520G>A (p.Ala174Thr) rs750153629 0.00019
NM_001127217.3(SMAD9):c.48C>T (p.Pro16=) rs151312678 0.00019
NM_001267550.2(TTN):c.22653T>C (p.Asp7551=) rs371736246 0.00019
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=) rs371447978 0.00019
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser) rs186404793 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=) rs148210834 0.00019
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_001286445.3(RIPOR2):c.2430G>A (p.Ala810=) rs541774937 0.00019
NM_001292063.2(OTOG):c.4866C>T (p.Val1622=) rs780581249 0.00019
NM_001292063.2(OTOG):c.7461C>T (p.Cys2487=) rs530992812 0.00019
NM_001378609.3(OTOGL):c.3393T>C (p.Tyr1131=) rs574974638 0.00019
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=) rs139751304 0.00019
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=) rs199914263 0.00019
NM_002471.4(MYH6):c.1875C>T (p.Tyr625=) rs146591697 0.00019
NM_003280.3(TNNC1):c.324T>C (p.Ala108=) rs145066209 0.00019
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe) rs764692193 0.00019
NM_004415.4(DSP):c.6351T>C (p.Asp2117=) rs148743859 0.00019
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997 0.00019
NM_004568.6(SERPINB6):c.1050C>T (p.Cys350=) rs201048748 0.00019
NM_005422.4(TECTA):c.6250+12C>T rs199696601 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_006393.3(NEBL):c.1728T>C (p.Asp576=) rs1528182 0.00019
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_017433.5(MYO3A):c.3730T>C (p.Tyr1244His) rs148993025 0.00019
NM_017668.3(NDE1):c.948-5740C>T rs373378619 0.00019
NM_024915.4(GRHL2):c.216+8C>T rs376505205 0.00019
NM_032119.4(ADGRV1):c.2734+8A>G rs371906040 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_033337.3(CAV3):c.306G>A (p.Ala102=) rs149375325 0.00019
NM_133379.5(TTN):c.13614A>C (p.Gln4538His) rs139344272 0.00019
NM_144672.4(OTOA):c.1521C>T (p.Ile507=) rs140579035 0.00019
NM_144991.3(TSPEAR):c.1524C>T (p.Tyr508=) rs140557785 0.00019
NM_153676.4(USH1C):c.1449G>A (p.Ser483=) rs142669563 0.00019
NM_153676.4(USH1C):c.2616C>T (p.Ala872=) rs141591891 0.00019
NM_194248.3(OTOF):c.1506G>A (p.Ser502=) rs199713499 0.00019
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_194248.3(OTOF):c.5196C>T (p.Tyr1732=) rs138681366 0.00019
NM_194248.3(OTOF):c.5826G>A (p.Thr1942=) rs111033353 0.00019
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His) rs189729452 0.00019
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895 0.00018
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=) rs727505215 0.00018
NM_001038603.3(MARVELD2):c.211A>G (p.Ile71Val) rs150773481 0.00018
NM_001105206.3(LAMA4):c.4691G>T (p.Ser1564Ile) rs369887291 0.00018
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) rs368735897 0.00018
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=) rs372124201 0.00018
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=) rs377164046 0.00018
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys) rs371973579 0.00018
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382 0.00018
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133 0.00018
NM_001277115.2(DNAH11):c.8770G>A (p.Val2924Met) rs72657369 0.00018
NM_001318895.3(FHL2):c.174C>T (p.Asp58=) rs141208906 0.00018
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002471.4(MYH6):c.4536G>A (p.Ser1512=) rs142539180 0.00018
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424 0.00018
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
NM_006005.3(WFS1):c.1923G>A (p.Thr641=) rs139040290 0.00018
NM_014391.3(ANKRD1):c.441T>C (p.Asp147=) rs145827106 0.00018
NM_016239.4(MYO15A):c.10077G>A (p.Pro3359=) rs367627564 0.00018
NM_016239.4(MYO15A):c.3012A>G (p.Ser1004=) rs376387472 0.00018
NM_016239.4(MYO15A):c.4407T>C (p.Ser1469=) rs202180744 0.00018
NM_016239.4(MYO15A):c.5360+13G>T rs374693221 0.00018
NM_017433.5(MYO3A):c.1668A>G (p.Leu556=) rs112809849 0.00018
NM_022124.6(CDH23):c.3431-6A>T rs377614198 0.00018
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=) rs146082509 0.00018
NM_032119.4(ADGRV1):c.17856+10C>T rs371949377 0.00018
NM_153676.4(USH1C):c.186T>C (p.Ile62=) rs200239508 0.00018
NM_194248.3(OTOF):c.5091G>A (p.Pro1697=) rs373568741 0.00018
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) rs369787754 0.00017
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=) rs375968860 0.00017
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln) rs369678002 0.00017
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000441.2(SLC26A4):c.1947C>T (p.Asn649=) rs761139326 0.00017
NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly) rs201008196 0.00017
NM_001128840.3(CACNA1D):c.2406+5G>A rs193270389 0.00017
NM_001199799.2(ILDR1):c.921A>G (p.Lys307=) rs370886914 0.00017
NM_001267550.2(TTN):c.11109C>T (p.Ser3703=) rs879160199 0.00017
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 0.00017
NM_001267550.2(TTN):c.27846C>T (p.Ser9282=) rs182355009 0.00017
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111 0.00017
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) rs727504191 0.00017
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001292063.2(OTOG):c.7693+13C>T rs773422239 0.00017
NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=) rs370844317 0.00017
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691 0.00017
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00017
NM_004100.5(EYA4):c.1617-11C>T rs118166702 0.00017
NM_004415.4(DSP):c.3153C>T (p.Asn1051=) rs563387839 0.00017
NM_004999.4(MYO6):c.188-3T>C rs373199401 0.00017
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=) rs587781024 0.00017
NM_007078.3(LDB3):c.1572G>A (p.Ala524=) rs149423035 0.00017
NM_017433.5(MYO3A):c.4730+11A>C rs375717548 0.00017
NM_020297.4(ABCC9):c.3096+13C>T rs370712530 0.00017
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala) rs376612687 0.00017
NM_022114.4(PRDM16):c.252C>T (p.Phe84=) rs370290776 0.00017
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=) rs371932558 0.00017
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=) rs201089046 0.00017
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=) rs147993163 0.00017
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096 0.00017
NM_133379.5(TTN):c.15981G>A (p.Gln5327=) rs186841908 0.00017
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) rs145757452 0.00017
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_173477.5(USH1G):c.756C>T (p.Asp252=) rs146752863 0.00017
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792 0.00016
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369 0.00016
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233 0.00016
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000335.5(SCN5A):c.5478C>T (p.Ile1826=) rs138892850 0.00016
NM_000336.3(SCNN1B):c.1305G>A (p.Ala435=) rs727503413 0.00016
NM_000368.5(TSC1):c.201A>G (p.Pro67=) rs371555137 0.00016
NM_000503.6(EYA1):c.1185C>T (p.Asn395=) rs372488542 0.00016
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr) rs368740836 0.00016
NM_001032283.3(TMPO):c.534T>C (p.Asn178=) rs200016687 0.00016
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) rs373024059 0.00016
NM_001035.3(RYR2):c.7075C>A (p.Arg2359=) rs200921429 0.00016
NM_001039141.3(TRIOBP):c.4932C>T (p.Pro1644=) rs192500421 0.00016
NM_001039141.3(TRIOBP):c.6324+162G>A rs201529268 0.00016
NM_001103.4(ACTN2):c.186C>T (p.Ile62=) rs34403480 0.00016
NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn) rs148716975 0.00016
NM_001145809.2(MYH14):c.3514C>A (p.Arg1172=) rs373919106 0.00016
NM_001232.4(CASQ2):c.177G>A (p.Pro59=) rs371260149 0.00016
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=) rs369993514 0.00016
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) rs374156904 0.00016
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=) rs550471556 0.00016
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His) rs115867512 0.00016
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00016
NM_001267550.2(TTN):c.7316G>A (p.Arg2439His) rs142129359 0.00016
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=) rs368423941 0.00016
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=) rs375403439 0.00016
NM_001292063.2(OTOG):c.2294-6C>T rs201721923 0.00016
NM_001292063.2(OTOG):c.2562-14G>A rs550895099 0.00016
NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu) rs542646349 0.00016
NM_001292063.2(OTOG):c.3819G>A (p.Ala1273=) rs750862882 0.00016
NM_001292063.2(OTOG):c.540+8C>T rs1027600196 0.00016
NM_001292063.2(OTOG):c.6006G>A (p.Pro2002=) rs554657199 0.00016
NM_001378454.1(ALMS1):c.471T>C (p.Cys157=) rs367648094 0.00016
NM_001378609.3(OTOGL):c.3555C>T (p.Tyr1185=) rs374198258 0.00016
NM_001379180.1(ESRRB):c.1176C>T (p.His392=) rs370193367 0.00016
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449 0.00016
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=) rs141737883 0.00016
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=) rs397517443 0.00016
NM_001692.4(ATP6V1B1):c.368-6C>T rs200038589 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002473.6(MYH9):c.3246G>A (p.Glu1082=) rs147961725 0.00016
NM_002473.6(MYH9):c.4956C>T (p.Arg1652=) rs148632964 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002880.4(RAF1):c.576A>G (p.Gln192=) rs148759910 0.00016
NM_004004.6(GJB2):c.186C>T (p.Asn62=) rs397516869 0.00016
NM_004100.5(EYA4):c.1739-48C>T rs148180981 0.00016
NM_004230.4(S1PR2):c.673G>A (p.Ala225Thr) rs143046723 0.00016
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln) rs201638005 0.00016
NM_004333.6(BRAF):c.483G>C (p.Leu161=) rs61730029 0.00016
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=) rs200062984 0.00016
NM_004700.4(KCNQ4):c.735G>A (p.Gly245=) rs147751558 0.00016
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810 0.00016
NM_005219.5(DIAPH1):c.3096C>T (p.Pro1032=) rs369299884 0.00016
NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr) rs148582008 0.00016
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys) rs202043599 0.00016
NM_006005.3(WFS1):c.1441C>T (p.Leu481=) rs727504663 0.00016
NM_006005.3(WFS1):c.2013G>A (p.Ala671=) rs147262416 0.00016
NM_006005.3(WFS1):c.825G>A (p.Ala275=) rs566634291 0.00016
NM_006393.3(NEBL):c.1302C>G (p.Ile434Met) rs202112717 0.00016
NM_006393.3(NEBL):c.258+1G>A rs139581346 0.00016
NM_006393.3(NEBL):c.2775C>T (p.Pro925=) rs199887353 0.00016
NM_007078.3(LDB3):c.159C>T (p.Asp53=) rs200114285 0.00016
NM_007214.5(SEC63):c.340-8T>C rs1569556 0.00016
NM_014000.3(VCL):c.1842G>A (p.Thr614=) rs144117013 0.00016
NM_016203.4(PRKAG2):c.1452G>A (p.Glu484=) rs768299371 0.00016
NM_016239.4(MYO15A):c.4482+10C>T rs200857668 0.00016
NM_016239.4(MYO15A):c.5100C>T (p.Thr1700=) rs529758445 0.00016
NM_016239.4(MYO15A):c.5568G>A (p.Pro1856=) rs374927379 0.00016
NM_016239.4(MYO15A):c.6060C>T (p.Ala2020=) rs370091178 0.00016
NM_016929.5(CLIC5):c.351C>T (p.Asp117=) rs139356265 0.00016
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=) rs145005748 0.00016
NM_022114.4(PRDM16):c.1578G>A (p.Pro526=) rs376747653 0.00016
NM_022124.6(CDH23):c.6050-10C>T rs560760228 0.00016
NM_031475.3(ESPN):c.2215C>G (p.Leu739Val) rs368795540 0.00016
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met) rs1996552 0.00016
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=) rs115239207 0.00016
NM_032119.4(ADGRV1):c.11745T>C (p.Phe3915=) rs201453118 0.00016
NM_032119.4(ADGRV1):c.14575G>A (p.Gly4859Ser) rs747275713 0.00016
NM_032119.4(ADGRV1):c.17613G>A (p.Gln5871=) rs371091564 0.00016
NM_033337.3(CAV3):c.144T>C (p.Pro48=) rs149287333 0.00016
NM_133261.3(GIPC3):c.626G>A (p.Cys209Tyr) rs374129877 0.00016
NM_138691.3(TMC1):c.822G>A (p.Pro274=) rs370523728 0.00016
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=) rs377439949 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419 0.00016
NM_174878.3(CLRN1):c.226T>C (p.Leu76=) rs139829306 0.00016
NM_194248.3(OTOF):c.1035C>T (p.Tyr345=) rs138885901 0.00016
NM_194248.3(OTOF):c.2949C>T (p.Pro983=) rs200246317 0.00016
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=) rs141082575 0.00016
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=) rs150406015 0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser) rs138543813 0.00016
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=) rs769363556 0.00015
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=) rs368706722 0.00015
NM_000260.4(MYO7A):c.3630+7A>G rs373958166 0.00015
NM_000260.4(MYO7A):c.5115C>T (p.Pro1705=) rs111033411 0.00015
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472 0.00015
NM_000514.4(GDNF):c.222A>G (p.Arg74=) rs139694199 0.00015
NM_000601.6(HGF):c.471A>G (p.Pro157=) rs142045938 0.00015
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00015
NM_001018005.2(TPM1):c.115-316G>A rs397516491 0.00015
NM_001032283.3(TMPO):c.565+2376C>T rs202035749 0.00015
NM_001105206.3(LAMA4):c.3087C>T (p.Pro1029=) rs146880158 0.00015
NM_001128228.3(TPRN):c.1743C>T (p.Asn581=) rs146518581 0.00015
NM_001145809.2(MYH14):c.1210+12G>A rs367560074 0.00015
NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=) rs534463809 0.00015
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=) rs181679744 0.00015
NM_001369.3(DNAH5):c.4687G>A (p.Gly1563Ser) rs147567352 0.00015
NM_001378609.3(OTOGL):c.5502C>T (p.Ser1834=) rs372006140 0.00015
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392 0.00015
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672 0.00015
NM_002473.6(MYH9):c.2295C>T (p.Ala765=) rs150133983 0.00015
NM_003803.4(MYOM1):c.1627G>A (p.Gly543Arg) rs370063864 0.00015
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr) rs146999911 0.00015
NM_004568.6(SERPINB6):c.125A>C (p.Tyr42Ser) rs147962494 0.00015
NM_004817.4(TJP2):c.3407+7G>A rs369322645 0.00015
NM_004985.5(KRAS):c.-27C>T rs587781013 0.00015
NM_005159.5(ACTC1):c.-22-15C>G rs368171271 0.00015
NM_005422.4(TECTA):c.33C>A (p.Val11=) rs140393508 0.00015
NM_006005.3(WFS1):c.2667G>A (p.Ala889=) rs71526454 0.00015
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
NM_144672.4(OTOA):c.1821G>A (p.Ala607=) rs143993346 0.00015
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro) rs145114473 0.00015
NM_206933.4(USH2A):c.1590A>T (p.Thr530=) rs144343161 0.00015
NM_000091.5(COL4A3):c.3094T>C (p.Leu1032=) rs372423505 0.00014
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241 0.00014
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) rs200669271 0.00014
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00014
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422 0.00014
NM_000257.4(MYH7):c.3861G>C (p.Leu1287=) rs150292548 0.00014
NM_000257.4(MYH7):c.957C>T (p.Thr319=) rs368699342 0.00014
NM_000260.4(MYO7A):c.1587C>T (p.Asn529=) rs372325609 0.00014
NM_000432.4(MYL2):c.274+8C>T rs397516400 0.00014
NM_001018005.2(TPM1):c.114+14C>T rs576659891 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001103.4(ACTN2):c.615+15C>T rs369293885 0.00014
NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=) rs150809897 0.00014
NM_001122659.3(EDNRB):c.732G>A (p.Thr244=) rs186620070 0.00014
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=) rs373851693 0.00014
NM_001134363.3(RBM20):c.1497C>T (p.Pro499=) rs727505095 0.00014
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile) rs397516596 0.00014
NM_001145809.2(MYH14):c.858C>T (p.Gly286=) rs376429869 0.00014
NM_001256317.3(TMPRSS3):c.789C>T (p.Tyr263=) rs147181936 0.00014
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) rs371535721 0.00014
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) rs376634193 0.00014
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile) rs397517478 0.00014
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=) rs372802604 0.00014
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) rs141961878 0.00014
NM_001267550.2(TTN):c.49648+13T>A rs368996176 0.00014
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val) rs397517627 0.00014
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp) rs558830502 0.00014
NM_001267550.2(TTN):c.87111G>A (p.Glu29037=) rs374902148 0.00014
NM_001267550.2(TTN):c.89946C>T (p.Val29982=) rs373311459 0.00014
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_001292063.2(OTOG):c.5051C>T (p.Pro1684Leu) rs553479177 0.00014
NM_001369.3(DNAH5):c.13492-15T>C rs192514899 0.00014
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00014
NM_001378609.3(OTOGL):c.1111C>T (p.His371Tyr) rs78377084 0.00014
NM_001379180.1(ESRRB):c.726G>A (p.Pro242=) rs370195063 0.00014
NM_001393500.2(TOMT):c.110G>A (p.Arg37Gln) rs188715129 0.00014
NM_001393500.2(TOMT):c.745A>C (p.Ile249Leu) rs727503153 0.00014
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr) rs891844407 0.00014
NM_002230.4(JUP):c.708-4C>G rs201313464 0.00014
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457 0.00014
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser) rs148962966 0.00014
NM_002471.4(MYH6):c.2429+14A>C rs200817451 0.00014
NM_002473.6(MYH9):c.4308G>A (p.Ala1436=) rs369577944 0.00014
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_003803.4(MYOM1):c.4648+7A>G rs555598943 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val) rs145266970 0.00014
NM_004985.5(KRAS):c.451-14T>C rs372508498 0.00014
NM_004999.4(MYO6):c.2665A>G (p.Met889Val) rs727505098 0.00014
NM_005422.4(TECTA):c.1320T>C (p.Asp440=) rs141488594 0.00014
NM_005633.4(SOS1):c.1962G>A (p.Glu654=) rs144382701 0.00014
NM_006005.3(WFS1):c.1399C>T (p.Leu467=) rs142700542 0.00014
NM_006393.3(NEBL):c.240C>T (p.Ile80=) rs727503337 0.00014
NM_006393.3(NEBL):c.480+11G>A rs769167750 0.00014
NM_006393.3(NEBL):c.489T>C (p.Tyr163=) rs141153708 0.00014
NM_007078.3(LDB3):c.897-14T>C rs763081924 0.00014
NM_015340.4(LARS2):c.1383T>C (p.Ile461=) rs35347543 0.00014
NM_016239.4(MYO15A):c.829C>T (p.His277Tyr) rs201541616 0.00014
NM_017433.5(MYO3A):c.906G>A (p.Thr302=) rs139818474 0.00014
NM_021116.4(ADCY1):c.984C>T (p.Leu328=) rs148862065 0.00014
NM_022114.4(PRDM16):c.2154G>A (p.Ser718=) rs781041726 0.00014
NM_022124.6(CDH23):c.1206G>A (p.Pro402=) rs397517304 0.00014
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330 0.00014
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099 0.00014
NM_022124.6(CDH23):c.5985C>T (p.Tyr1995=) rs370762205 0.00014
NM_030662.4(MAP2K2):c.529-12G>A rs375701469 0.00014
NM_030662.4(MAP2K2):c.784G>A (p.Val262Ile) rs138873805 0.00014
NM_031475.3(ESPN):c.*6G>A rs200806495 0.00014
NM_032119.4(ADGRV1):c.16699G>A (p.Val5567Ile) rs201677553 0.00014
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn) rs182395524 0.00014
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579 0.00014
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253 0.00014
NM_080680.3(COL11A2):c.4590C>T (p.Thr1530=) rs375329541 0.00014
NM_153676.4(USH1C):c.2617G>A (p.Val873Met) rs201533059 0.00014
NM_153676.4(USH1C):c.684C>T (p.Ser228=) rs149172005 0.00014
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849 0.00014
NM_153700.2(STRC):c.3555G>A (p.Leu1185=) rs2597064 0.00014
NM_181458.4(PAX3):c.1449C>T (p.Ile483=) rs757964568 0.00014
NM_194248.3(OTOF):c.79+12G>A rs201241987 0.00014
NM_194323.3(OTOF):c.3600C>T (p.Ile1200=) rs145899319 0.00014
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991 0.00014
NM_206933.4(USH2A):c.15090G>A (p.Ser5030=) rs397517997 0.00014
NM_206933.4(USH2A):c.1581C>T (p.Cys527=) rs140331348 0.00014
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054 0.00013
NM_000257.4(MYH7):c.3726+6C>T rs377745688 0.00013
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) rs181126043 0.00013
NM_000260.4(MYO7A):c.2928G>A (p.Glu976=) rs372223659 0.00013
NM_000307.5(POU3F4):c.753G>A (p.Leu251=) rs779713849 0.00013
NM_000441.2(SLC26A4):c.90C>G (p.Leu30=) rs566715839 0.00013
NM_001031679.3(MSRB3):c.-67G>C rs368104588 0.00013
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524 0.00013
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln) rs200528850 0.00013
NM_001145809.2(MYH14):c.810C>T (p.Phe270=) rs374146214 0.00013
NM_001232.4(CASQ2):c.533-6C>T rs545407254 0.00013
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His) rs146159479 0.00013
NM_001267550.2(TTN):c.16480G>A (p.Gly5494Arg) rs727504697 0.00013
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910 0.00013
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=) rs374879942 0.00013
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997 0.00013
NM_001267550.2(TTN):c.3318C>T (p.Gly1106=) rs141768043 0.00013
NM_001267550.2(TTN):c.53166C>T (p.Asn17722=) rs371730757 0.00013
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) rs201687390 0.00013
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=) rs373509153 0.00013
NM_001292063.2(OTOG):c.7542C>G (p.Leu2514=) rs752641698 0.00013
NM_001292063.2(OTOG):c.8004C>T (p.Tyr2668=) rs892246727 0.00013
NM_001384474.1(LOXHD1):c.5097C>T (p.Asp1699=) rs375851293 0.00013
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp) rs201994383 0.00013
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832 0.00013
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949 0.00013
NM_002473.6(MYH9):c.132C>T (p.Ala44=) rs138526426 0.00013
NM_002755.4(MAP2K1):c.726G>T (p.Val242=) rs373745627 0.00013
NM_002880.4(RAF1):c.94A>G (p.Ile32Val) rs372738063 0.00013
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_004006.3(DMD):c.7244G>A (p.Arg2415His) rs373749120 0.00013
NM_004568.6(SERPINB6):c.231C>T (p.Thr77=) rs571234750 0.00013
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=) rs367977493 0.00013
NM_004999.4(MYO6):c.553+13T>A rs369806112 0.00013
NM_005219.5(DIAPH1):c.3662-14G>A rs369935242 0.00013
NM_005422.4(TECTA):c.1425G>A (p.Pro475=) rs149533095 0.00013
NM_005422.4(TECTA):c.1968C>A (p.Gly656=) rs147246652 0.00013
NM_006005.3(WFS1):c.2610C>T (p.Thr870=) rs727503754 0.00013
NM_006012.4(CLPP):c.555+15C>T rs371120549 0.00013
NM_007078.3(LDB3):c.1956C>T (p.Asp652=) rs139213290 0.00013
NM_007078.3(LDB3):c.714C>T (p.Ala238=) rs727503125 0.00013
NM_016239.4(MYO15A):c.1602C>T (p.Phe534=) rs547305039 0.00013
NM_017780.4(CHD7):c.5607+11G>A rs369304706 0.00013
NM_017780.4(CHD7):c.8196C>T (p.Ala2732=) rs375800664 0.00013
NM_022114.4(PRDM16):c.1363G>A (p.Gly455Ser) rs536908705 0.00013
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982 0.00013
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_030662.4(MAP2K2):c.246C>T (p.Asn82=) rs150942310 0.00013
NM_030662.4(MAP2K2):c.33G>A (p.Ala11=) rs368233443 0.00013
NM_032119.4(ADGRV1):c.1510-7A>T rs182260529 0.00013
NM_032119.4(ADGRV1):c.18349G>A (p.Val6117Met) rs200062593 0.00013
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=) rs375077719 0.00013
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu) rs200659780 0.00013
NM_057176.3(BSND):c.806G>A (p.Arg269Gln) rs199832638 0.00013
NM_080680.3(COL11A2):c.2928G>A (p.Gly976=) rs147004824 0.00013
NM_138691.3(TMC1):c.1225-8C>T rs375785074 0.00013
NM_170682.4(P2RX2):c.762G>A (p.Glu254=) rs144300117 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_203447.4(DOCK8):c.4998G>C (p.Val1666=) rs370901183 0.00013
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr) rs146980351 0.00013
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514 0.00013
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097 0.00012
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=) rs377292092 0.00012
NM_000256.3(MYBPC3):c.2487G>T (p.Leu829=) rs201040413 0.00012
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_000257.4(MYH7):c.240C>T (p.Asn80=) rs200493975 0.00012
NM_000260.4(MYO7A):c.4441+7C>T rs372493678 0.00012
NM_000363.5(TNNI3):c.132G>C (p.Ser44=) rs727504941 0.00012
NM_001005242.3(PKP2):c.1379-2005A>G rs397516995 0.00012
NM_001005242.3(PKP2):c.306C>A (p.Ser102=) rs376613662 0.00012
NM_001080476.3(GRXCR1):c.825G>A (p.Thr275=) rs370629848 0.00012
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_001134363.3(RBM20):c.3177A>G (p.Pro1059=) rs562290651 0.00012
NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys) rs556541366 0.00012
NM_001199799.2(ILDR1):c.1378G>A (p.Gly460Arg) rs559855953 0.00012
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=) rs376894729 0.00012
NM_001267550.2(TTN):c.107082G>A (p.Leu35694=) rs727505278 0.00012
NM_001267550.2(TTN):c.16113T>C (p.Asn5371=) rs143845692 0.00012
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.204C>T (p.Pro68=) rs201089861 0.00012
NM_001267550.2(TTN):c.24505+13C>T rs534803807 0.00012
NM_001267550.2(TTN):c.39045G>C (p.Val13015=) rs192464868 0.00012
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile) rs374394719 0.00012
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) rs368021072 0.00012
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=) rs56245285 0.00012
NM_001292063.2(OTOG):c.7959G>A (p.Glu2653=) rs762613093 0.00012
NM_001354604.2(MITF):c.666+15G>C rs201698367 0.00012
NM_001370649.1(CLIC5):c.-55+49690T>A rs376156807 0.00012
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val) rs377282102 0.00012
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_002471.4(MYH6):c.3342+10T>C rs552662475 0.00012
NM_002473.6(MYH9):c.1212G>A (p.Ala404=) rs148832136 0.00012
NM_002473.6(MYH9):c.5709C>T (p.Ala1903=) rs145444485 0.00012
NM_004999.4(MYO6):c.441C>T (p.Ile147=) rs565770950 0.00012
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=) rs140261885 0.00012
NM_005228.5(EGFR):c.2166G>A (p.Ala722=) rs367694667 0.00012
NM_006012.4(CLPP):c.39G>A (p.Ala13=) rs779446991 0.00012
NM_006383.4(CIB2):c.192G>A (p.Glu64=) rs145415848 0.00012
NM_014000.3(VCL):c.2796T>C (p.Asp932=) rs140308982 0.00012
NM_014000.3(VCL):c.378C>T (p.Phe126=) rs148966602 0.00012
NM_016239.4(MYO15A):c.6720C>G (p.Ser2240=) rs367799231 0.00012
NM_016599.5(MYOZ2):c.76+10A>G rs372006344 0.00012
NM_020297.4(ABCC9):c.2339+13A>G rs189255166 0.00012
NM_021116.4(ADCY1):c.2338G>A (p.Val780Ile) rs140746527 0.00012
NM_024009.3(GJB3):c.372C>T (p.His124=) rs145436095 0.00012
NM_030662.4(MAP2K2):c.581-8G>A rs369262004 0.00012
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=) rs549704545 0.00012
NM_133379.5(TTN):c.12153C>T (p.Asp4051=) rs200304872 0.00012
NM_144991.3(TSPEAR):c.138C>T (p.Ser46=) rs781956758 0.00012
NM_206933.4(USH2A):c.1623G>A (p.Glu541=) rs146805130 0.00012
NM_206933.4(USH2A):c.8457C>T (p.Thr2819=) rs369778429 0.00012
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719 0.00011
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354 0.00011
NM_000257.4(MYH7):c.345C>T (p.Tyr115=) rs149439730 0.00011
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523 0.00011
NM_000260.4(MYO7A):c.1798-11C>T rs782146561 0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_000260.4(MYO7A):c.3375+14C>A rs782500012 0.00011
NM_000260.4(MYO7A):c.4568+13G>A rs532356676 0.00011
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000432.4(MYL2):c.33G>A (p.Gly11=) rs199742269 0.00011
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_001018005.2(TPM1):c.726G>A (p.Ala242=) rs200484871 0.00011
NM_001031679.3(MSRB3):c.234A>G (p.Lys78=) rs143333399 0.00011
NM_001039213.4(CEACAM16):c.527G>A (p.Arg176His) rs746541677 0.00011
NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr) rs397516720 0.00011
NM_001128840.3(CACNA1D):c.132T>C (p.Asn44=) rs377363390 0.00011
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_001232.4(CASQ2):c.540G>A (p.Lys180=) rs72554057 0.00011
NM_001243133.2(NLRP3):c.906C>T (p.Phe302=) rs756989752 0.00011
NM_001267550.2(TTN):c.1449C>T (p.Ala483=) rs141617218 0.00011
NM_001267550.2(TTN):c.15775+14C>T rs151057960 0.00011
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) rs376037792 0.00011
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.19715-4A>G rs375009631 0.00011
NM_001267550.2(TTN):c.25065G>A (p.Ala8355=) rs397517514 0.00011
NM_001267550.2(TTN):c.27915A>G (p.Arg9305=) rs367900368 0.00011
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=) rs369095270 0.00011
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp) rs144672482 0.00011
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00011
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665 0.00011
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=) rs201380749 0.00011
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn) rs376679796 0.00011
NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala) rs556720151 0.00011
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) rs373853269 0.00011
NM_001292063.2(OTOG):c.783G>T (p.Met261Ile) rs118083195 0.00011
NM_001318895.3(FHL2):c.192C>T (p.Ala64=) rs199943518 0.00011
NM_001363118.2(SLC52A2):c.1209G>A (p.Pro403=) rs374612342 0.00011
NM_001363118.2(SLC52A2):c.822C>A (p.Ala274=) rs145009003 0.00011
NM_002230.4(JUP):c.1989C>T (p.Arg663=) rs145175985 0.00011
NM_002471.4(MYH6):c.1410C>T (p.Asp470=) rs139886074 0.00011
NM_002471.4(MYH6):c.2097C>T (p.Gly699=) rs149734381 0.00011
NM_002471.4(MYH6):c.2464G>A (p.Ala822Thr) rs138419275 0.00011
NM_002471.4(MYH6):c.2805C>T (p.Asn935=) rs757958461 0.00011
NM_002473.6(MYH9):c.1980G>A (p.Thr660=) rs200975323 0.00011
NM_002473.6(MYH9):c.5277C>T (p.Ile1759=) rs183105164 0.00011
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_002906.4(RDX):c.471A>G (p.Val157=) rs376917034 0.00011
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004447.6(EPS8):c.2313G>A (p.Ala771=) rs761418186 0.00011
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786 0.00011
NM_004700.4(KCNQ4):c.909C>T (p.Phe303=) rs773015201 0.00011
NM_004999.4(MYO6):c.3393A>G (p.Pro1131=) rs768505655 0.00011
NM_004999.4(MYO6):c.600C>T (p.Asn200=) rs145665265 0.00011
NM_005219.5(DIAPH1):c.2886T>C (p.Ala962=) rs750444501 0.00011
NM_005219.5(DIAPH1):c.2924A>G (p.Asn975Ser) rs370849059 0.00011
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280 0.00011
NM_005422.4(TECTA):c.915C>T (p.Cys305=) rs367974065 0.00011
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=) rs373319212 0.00011
NM_006073.4(TRDN):c.129G>A (p.Thr43=) rs373840513 0.00011
NM_006073.4(TRDN):c.793+27G>A rs189106156 0.00011
NM_015404.4(WHRN):c.2112G>T (p.Leu704=) rs535492772 0.00011
NM_016239.4(MYO15A):c.4461C>T (p.Asn1487=) rs201076604 0.00011
NM_020297.4(ABCC9):c.3288T>C (p.Phe1096=) rs377372612 0.00011
NM_020297.4(ABCC9):c.96C>T (p.Val32=) rs727505034 0.00011
NM_022124.6(CDH23):c.1227G>A (p.Ala409=) rs371212430 0.00011
NM_022124.6(CDH23):c.1450-4G>A rs374549358 0.00011
NM_024747.6(HPS6):c.2238A>G (p.Gln746=) rs371739854 0.00011
NM_024915.4(GRHL2):c.849C>T (p.Thr283=) rs138628340 0.00011
NM_032119.4(ADGRV1):c.10293C>T (p.Asn3431=) rs763452527 0.00011
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=) rs373354231 0.00011
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His) rs375122809 0.00011
NM_032119.4(ADGRV1):c.5892T>C (p.Asn1964=) rs201983595 0.00011
NM_032119.4(ADGRV1):c.7294G>A (p.Val2432Met) rs111033531 0.00011
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala) rs111033517 0.00011
NM_033118.4(MYLK2):c.281C>T (p.Pro94Leu) rs201134349 0.00011
NM_033409.4(SLC52A3):c.97G>C (p.Glu33Gln) rs199861879 0.00011
NM_144573.4(NEXN):c.688-10G>A rs370574269 0.00011
NM_153676.4(USH1C):c.2538C>T (p.Asp846=) rs143860238 0.00011
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=) rs370128838 0.00011
NM_181458.4(PAX3):c.958+9G>A rs185119406 0.00011
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996 0.00011
NM_194248.3(OTOF):c.1977G>A (p.Pro659=) rs145589784 0.00011
NM_194248.3(OTOF):c.328-11C>T rs369879663 0.00011
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=) rs372015149 0.00011
NM_206933.4(USH2A):c.10896C>T (p.Leu3632=) rs200287425 0.00011
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=) rs188093326 0.00011
NM_213569.2(NEBL):c.69+15G>T rs377648518 0.00011
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387 0.00010
NM_000256.3(MYBPC3):c.402C>T (p.Pro134=) rs397516046 0.00010
NM_000256.3(MYBPC3):c.450C>T (p.Pro150=) rs377520770 0.00010
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr) rs374576916 0.00010
NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=) rs376301325 0.00010
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=) rs200556220 0.00010
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=) rs368980118 0.00010
NM_000337.6(SGCD):c.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000432.4(MYL2):c.274+9G>A rs371405579 0.00010
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416 0.00010
NM_000601.6(HGF):c.258T>C (p.Ala86=) rs370202240 0.00010
NM_000720.4(CACNA1D):c.1504G>A (p.Ala502Thr) rs773409037 0.00010
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919 0.00010
NM_001018116.2(CAVIN4):c.939G>A (p.Glu313=) rs778284038 0.00010
NM_001035.3(RYR2):c.12114T>C (p.Asp4038=) rs368103385 0.00010
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=) rs371934582 0.00010
NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=) rs570566104 0.00010
NM_001103.4(ACTN2):c.2148G>A (p.Thr716=) rs191631773 0.00010
NM_001105206.3(LAMA4):c.3819C>T (p.Phe1273=) rs138232283 0.00010
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu) rs180177462 0.00010
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=) rs372521529 0.00010
NM_001267550.2(TTN):c.106788A>T (p.Thr35596=) rs369896045 0.00010
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) rs377337528 0.00010
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys) rs727504586 0.00010
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met) rs201506104 0.00010
NM_001267550.2(TTN):c.2151C>T (p.Pro717=) rs374570732 0.00010
NM_001267550.2(TTN):c.26928G>A (p.Leu8976=) rs370973715 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.63960T>A (p.Val21320=) rs397517655 0.00010
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00010
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn) rs192962624 0.00010
NM_001267550.2(TTN):c.93981C>G (p.Val31327=) rs370894846 0.00010
NM_001292063.2(OTOG):c.2486+7G>A rs774905533 0.00010
NM_001292063.2(OTOG):c.3017A>T (p.Asp1006Val) rs551850126 0.00010
NM_001330.5(CTF1):c.144+7G>T rs374359365 0.00010
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=) rs371511963 0.00010
NM_001378609.3(OTOGL):c.6882C>T (p.Asp2294=) rs751285103 0.00010
NM_001379180.1(ESRRB):c.*7C>T rs374018995 0.00010
NM_001384140.1(PCDH15):c.3951C>T (p.Thr1317=) rs144955298 0.00010
NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=) rs141969350 0.00010
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_002471.4(MYH6):c.5514G>T (p.Ser1838=) rs727503232 0.00010
NM_002473.6(MYH9):c.1149C>T (p.Thr383=) rs143974891 0.00010
NM_003280.3(TNNC1):c.210C>T (p.Gly70=) rs141505676 0.00010
NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser) rs200213555 0.00010
NM_004006.3(DMD):c.7596C>T (p.Thr2532=) rs778412539 0.00010
NM_004230.4(S1PR2):c.729C>T (p.Ile243=) rs148315102 0.00010
NM_004333.6(BRAF):c.1632T>C (p.Ile544=) rs149702741 0.00010
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211 0.00010
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072 0.00010
NM_004415.4(DSP):c.8493G>C (p.Ser2831=) rs397516969 0.00010
NM_004447.6(EPS8):c.670G>A (p.Val224Ile) rs758506896 0.00010
NM_004700.4(KCNQ4):c.1668C>T (p.Tyr556=) rs140945833 0.00010
NM_004817.4(TJP2):c.2880+72G>A rs397516632 0.00010
NM_005228.5(EGFR):c.2457G>A (p.Val819=) rs56183713 0.00010
NM_005379.4(MYO1A):c.48G>T (p.Leu16=) rs201000642 0.00010
NM_005422.4(TECTA):c.3315C>T (p.Tyr1105=) rs142573400 0.00010
NM_005548.3(KARS1):c.1275T>C (p.Asp425=) rs779241883 0.00010
NM_005548.3(KARS1):c.1551+10G>A rs367722503 0.00010
NM_015404.4(WHRN):c.1696G>C (p.Val566Leu) rs189654215 0.00010
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) rs143763650 0.00010
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_016239.4(MYO15A):c.3866+12G>A rs533500962 0.00010
NM_016239.4(MYO15A):c.9494G>A (p.Arg3165Gln) rs780281329 0.00010
NM_020297.4(ABCC9):c.852T>A (p.Ser284=) rs113562970 0.00010
NM_022114.4(PRDM16):c.714C>A (p.Leu238=) rs371540074 0.00010
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) rs111033519 0.00010
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=) rs186866326 0.00010
NM_022124.6(CDH23):c.8856G>A (p.Arg2952=) rs377598904 0.00010
NM_024915.4(GRHL2):c.1416T>C (p.Pro472=) rs371708806 0.00010
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr) rs201180985 0.00010
NM_033337.3(CAV3):c.168C>T (p.Gly56=) rs116840774 0.00010
NM_057176.3(BSND):c.457G>A (p.Asp153Asn) rs202128855 0.00010
NM_080680.3(COL11A2):c.1179+8A>T rs773318336 0.00010
NM_133379.5(TTN):c.10410C>T (p.Asp3470=) rs727505183 0.00010
NM_144672.4(OTOA):c.396C>T (p.Gly132=) rs147717988 0.00010
NM_152594.3(SPRED1):c.177T>C (p.Phe59=) rs397517871 0.00010
NM_153700.2(STRC):c.4845C>T (p.Ser1615=) rs184909019 0.00010
NM_194248.3(OTOF):c.5813+15G>A rs371649088 0.00010
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=) rs141528682 0.00010
NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met) rs200570742 0.00010
NM_206933.4(USH2A):c.6958-5C>T rs147914083 0.00010
NM_213569.2(NEBL):c.165-6C>G rs201869237 0.00010
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702 0.00009
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000257.4(MYH7):c.2091T>C (p.Gly697=) rs140380523 0.00009
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408 0.00009
NM_000260.4(MYO7A):c.2091G>A (p.Lys697=) rs768972429 0.00009
NM_000260.4(MYO7A):c.3750+7G>A rs397516305 0.00009
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) rs111033376 0.00009
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) rs758921557 0.00009
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=) rs564847999 0.00009
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797 0.00009
NM_000441.2(SLC26A4):c.61A>G (p.Met21Val) rs375716219 0.00009
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_000601.6(HGF):c.270T>C (p.Asp90=) rs145598174 0.00009
NM_001035.3(RYR2):c.5754C>T (p.Val1918=) rs397516545 0.00009
NM_001039141.3(TRIOBP):c.5529G>A (p.Thr1843=) rs531565607 0.00009
NM_001039141.3(TRIOBP):c.6324+177G>A rs150061404 0.00009
NM_001042492.3(NF1):c.4724+11A>G rs368649260 0.00009
NM_001042702.5(PJVK):c.405A>C (p.Thr135=) rs373800401 0.00009
NM_001089.3(ABCA3):c.2898C>T (p.Thr966=) rs374605569 0.00009
NM_001089.3(ABCA3):c.4617C>T (p.Asp1539=) rs369494610 0.00009
NM_001103.4(ACTN2):c.165C>T (p.Ala55=) rs193922634 0.00009
NM_001105206.3(LAMA4):c.5442C>T (p.Ala1814=) rs200300118 0.00009
NM_001145809.2(MYH14):c.693+12C>T rs370673291 0.00009
NM_001199107.2(TBC1D24):c.1302+14A>C rs528462687 0.00009
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 0.00009
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=) rs186672543 0.00009
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile) rs773237428 0.00009
NM_001256317.3(TMPRSS3):c.300C>T (p.Asp100=) rs146621712 0.00009
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=) rs183328495 0.00009
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_001267550.2(TTN):c.18307+12A>G rs376899412 0.00009
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=) rs201904848 0.00009
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722 0.00009
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=) rs375022009 0.00009
NM_001267550.2(TTN):c.33418+12C>A rs199772748 0.00009
NM_001267550.2(TTN):c.34192G>T (p.Val11398Phe) rs551911856 0.00009
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=) rs369128249 0.00009
NM_001267550.2(TTN):c.41982T>C (p.Pro13994=) rs777609108 0.00009
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=) rs369800903 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00009
NM_001267550.2(TTN):c.59073T>C (p.Asp19691=) rs775577598 0.00009
NM_001267550.2(TTN):c.64005G>A (p.Glu21335=) rs749889687 0.00009
NM_001267550.2(TTN):c.68225-5T>C rs758273663 0.00009
NM_001267550.2(TTN):c.79072G>A (p.Val26358Ile) rs774747865 0.00009
NM_001267550.2(TTN):c.83820C>T (p.Asn27940=) rs727503555 0.00009
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=) rs531445644 0.00009
NM_001267550.2(TTN):c.93292G>A (p.Val31098Ile) rs760282296 0.00009
NM_001267550.2(TTN):c.98203A>G (p.Ile32735Val) rs761246331 0.00009
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val) rs141837529 0.00009
NM_001276345.2(TNNT2):c.720-4G>T rs201753429 0.00009
NM_001276345.2(TNNT2):c.774C>T (p.Phe258=) rs397516481 0.00009
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) rs376923877 0.00009
NM_001292063.2(OTOG):c.4826C>T (p.Pro1609Leu) rs937557181 0.00009
NM_001292063.2(OTOG):c.4896G>A (p.Thr1632=) rs143785785 0.00009
NM_001292063.2(OTOG):c.7585+11C>T rs369343034 0.00009
NM_001292063.2(OTOG):c.7693+11G>A rs976807214 0.00009
NM_001318895.3(FHL2):c.392G>A (p.Arg131His) rs371421189 0.00009
NM_001371333.1(DIABLO):c.175A>G (p.Ile59Val) rs574777883 0.00009
NM_001378609.3(OTOGL):c.4446T>C (p.Tyr1482=) rs376273459 0.00009
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr) rs775475186 0.00009
NM_001384474.1(LOXHD1):c.3471C>T (p.Gly1157=) rs727503141 0.00009
NM_001614.5(ACTG1):c.45C>T (p.Gly15=) rs145574149 0.00009
NM_001614.5(ACTG1):c.954C>T (p.Thr318=) rs3211110 0.00009
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00009
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) rs727503122 0.00009
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=) rs368497504 0.00009
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_004006.3(DMD):c.3270G>A (p.Gln1090=) rs373475857 0.00009
NM_004085.4(TIMM8A):c.15C>T (p.Ser5=) rs369736736 0.00009
NM_004100.5(EYA4):c.9C>T (p.Asp3=) rs374322196 0.00009
NM_004230.4(S1PR2):c.558C>T (p.Tyr186=) rs199954220 0.00009
NM_004415.4(DSP):c.3981C>T (p.Ile1327=) rs397516934 0.00009
NM_004415.4(DSP):c.4750G>A (p.Ala1584Thr) rs191778417 0.00009
NM_004415.4(DSP):c.5523A>C (p.Ser1841=) rs730882116 0.00009
NM_004447.6(EPS8):c.589G>A (p.Asp197Asn) rs150255928 0.00009
NM_004700.4(KCNQ4):c.2028C>T (p.Asp676=) rs552843990 0.00009
NM_004817.4(TJP2):c.2859G>T (p.Ser953=) rs369972534 0.00009
NM_005188.4(CBL):c.2223G>A (p.Ala741=) rs202229538 0.00009
NM_005219.5(DIAPH1):c.1397-14C>T rs201444168 0.00009
NM_005379.4(MYO1A):c.2082C>G (p.Arg694=) rs189900453 0.00009
NM_005422.4(TECTA):c.2574C>T (p.Asp858=) rs150564356 0.00009
NM_006016.6(CD164):c.330C>T (p.Ser110=) rs199887608 0.00009
NM_006393.3(NEBL):c.120A>G (p.Glu40=) rs397517203 0.00009
NM_007078.3(LDB3):c.1071T>A (p.Pro357=) rs143823978 0.00009
NM_007078.3(LDB3):c.493C>T (p.Arg165Trp) rs45610637 0.00009
NM_014000.3(VCL):c.1290C>T (p.Asp430=) rs576271894 0.00009
NM_014000.3(VCL):c.2142C>T (p.Asp714=) rs373790383 0.00009
NM_014000.3(VCL):c.2799G>A (p.Ala933=) rs199507346 0.00009
NM_014000.3(VCL):c.3066C>T (p.Ile1022=) rs138619320 0.00009
NM_015404.4(WHRN):c.1611C>T (p.Thr537=) rs201280818 0.00009
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=) rs376450705 0.00009
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=) rs397517276 0.00009
NM_016239.4(MYO15A):c.1047C>T (p.Tyr349=) rs567657743 0.00009
NM_016239.4(MYO15A):c.642C>T (p.Phe214=) rs766970263 0.00009
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His) rs377389290 0.00009
NM_016599.5(MYOZ2):c.303G>A (p.Ser101=) rs527258961 0.00009
NM_017827.4(SARS2):c.589+9C>T rs747815067 0.00009
NM_020433.5(JPH2):c.1169+10C>T rs372219237 0.00009
NM_021116.4(ADCY1):c.2187T>C (p.His729=) rs145126980 0.00009
NM_022114.4(PRDM16):c.2856G>A (p.Thr952=) rs563342786 0.00009
NM_022124.6(CDH23):c.2854G>A (p.Glu952Lys) rs370554545 0.00009
NM_022124.6(CDH23):c.3070G>A (p.Val1024Met) rs397517319 0.00009
NM_022124.6(CDH23):c.825C>T (p.Ile275=) rs376436182 0.00009
NM_022124.6(CDH23):c.8499C>T (p.Arg2833=) rs397517358 0.00009
NM_022124.6(CDH23):c.8829G>A (p.Thr2943=) rs369023265 0.00009
NM_030662.4(MAP2K2):c.*9G>A rs397517410 0.00009
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) rs375632680 0.00009
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=) rs375062187 0.00009
NM_032119.4(ADGRV1):c.6925G>A (p.Ala2309Thr) rs201528839 0.00009
NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu) rs200179979 0.00009
NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu) rs201245117 0.00009
NM_033056.4(PCDH15):c.5397C>T (p.Ser1799=) rs367881384 0.00009
NM_080680.3(COL11A2):c.2628+14G>A rs559123089 0.00009
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) rs372250466 0.00009
NM_133261.3(GIPC3):c.871G>A (p.Ala291Thr) rs199951984 0.00009
NM_133379.5(TTN):c.13746A>G (p.Gln4582=) rs201945197 0.00009
NM_138691.3(TMC1):c.760G>A (p.Val254Ile) rs111033497 0.00009
NM_144573.4(NEXN):c.949A>C (p.Met317Leu) rs559464457 0.00009
NM_144672.4(OTOA):c.180-12C>T rs776210902 0.00009
NM_144672.4(OTOA):c.2153A>G (p.Asp718Gly) rs767518359 0.00009
NM_144991.3(TSPEAR):c.411G>A (p.Thr137=) rs140923114 0.00009
NM_153676.4(USH1C):c.1731G>A (p.Pro577=) rs199572804 0.00009
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_170707.4(LMNA):c.150C>T (p.Arg50=) rs397517894 0.00009
NM_194248.3(OTOF):c.5523C>T (p.Asp1841=) rs145894536 0.00009
NM_206933.4(USH2A):c.12558T>C (p.Ile4186=) rs369335995 0.00009
NM_206933.4(USH2A):c.5367A>G (p.Leu1789=) rs138064171 0.00009
NM_206933.4(USH2A):c.6537T>C (p.Tyr2179=) rs768759268 0.00009
NM_206933.4(USH2A):c.7719T>C (p.Arg2573=) rs143683292 0.00009
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) rs140751478 0.00008
NM_000218.3(KCNQ1):c.804C>T (p.Ile268=) rs373227792 0.00008
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 0.00008
NM_000256.3(MYBPC3):c.93C>T (p.Ala31=) rs397516085 0.00008
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_000258.3(MYL3):c.516G>A (p.Leu172=) rs367761724 0.00008
NM_000260.4(MYO7A):c.2421C>T (p.His807=) rs782218928 0.00008
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331 0.00008
NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=) rs372311564 0.00008
NM_000335.5(SCN5A):c.2268C>T (p.Phe756=) rs372271677 0.00008
NM_000335.5(SCN5A):c.3207G>A (p.Thr1069=) rs371686822 0.00008
NM_001005242.3(PKP2):c.888C>T (p.His296=) rs397517029 0.00008
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084 0.00008
NM_001006630.2(CHRM2):c.703C>A (p.Leu235Met) rs138886480 0.00008
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460 0.00008
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417 0.00008
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=) rs367987360 0.00008
NM_001035.3(RYR2):c.9891G>A (p.Lys3297=) rs368661838 0.00008
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963 0.00008
NM_001105206.3(LAMA4):c.4305T>C (p.Asp1435=) rs147800037 0.00008
NM_001134363.3(RBM20):c.3279C>T (p.Asp1093=) rs1003478669 0.00008
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
NM_001145809.2(MYH14):c.3778G>A (p.Gly1260Ser) rs200272339 0.00008
NM_001146079.2(CLDN14):c.369C>A (p.Thr123=) rs727502938 0.00008
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383 0.00008
NM_001256317.3(TMPRSS3):c.1020G>A (p.Thr340=) rs374149338 0.00008
NM_001256317.3(TMPRSS3):c.1155C>T (p.Cys385=) rs746293388 0.00008
NM_001267550.2(TTN):c.103524C>T (p.Val34508=) rs587780985 0.00008
NM_001267550.2(TTN):c.1365G>A (p.Thr455=) rs145211131 0.00008
NM_001267550.2(TTN):c.31071C>T (p.His10357=) rs368973334 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_001354604.2(MITF):c.537C>T (p.Asn179=) rs150591206 0.00008
NM_001370649.1(CLIC5):c.-55+49314C>T rs759950763 0.00008
NM_001379180.1(ESRRB):c.177G>A (p.Ser59=) rs781612689 0.00008
NM_001384140.1(PCDH15):c.92-10C>T rs202223952 0.00008
NM_001614.5(ACTG1):c.669C>T (p.Phe223=) rs373099591 0.00008
NM_001692.4(ATP6V1B1):c.1533T>C (p.Thr511=) rs782329243 0.00008
NM_002230.4(JUP):c.891C>T (p.Tyr297=) rs397517302 0.00008
NM_002473.6(MYH9):c.5694C>T (p.Arg1898=) rs559732738 0.00008
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202 0.00008
NM_004817.4(TJP2):c.2970A>G (p.Ala990=) rs727503481 0.00008
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=) rs149432225 0.00008
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met) rs186780639 0.00008
NM_006005.3(WFS1):c.2103C>T (p.Thr701=) rs113800346 0.00008
NM_006941.4(SOX10):c.1125C>T (p.Thr375=) rs147817756 0.00008
NM_014000.3(VCL):c.3333T>C (p.Ala1111=) rs147415627 0.00008
NM_015340.4(LARS2):c.1861+7A>G rs369084897 0.00008
NM_016239.4(MYO15A):c.4807C>T (p.Leu1603=) rs368865502 0.00008
NM_017433.5(MYO3A):c.4846T>C (p.Ser1616Pro) rs767228097 0.00008
NM_017780.4(CHD7):c.8412G>A (p.Ala2804=) rs200747690 0.00008
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=) rs372889781 0.00008
NM_017950.4(CCDC40):c.1068G>A (p.Ser356=) rs377156300 0.00008
NM_020297.4(ABCC9):c.3993C>T (p.His1331=) rs377704379 0.00008
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157 0.00008
NM_022124.6(CDH23):c.6637G>A (p.Gly2213Ser) rs375900265 0.00008
NM_022124.6(CDH23):c.856C>T (p.Leu286=) rs727502918 0.00008
NM_030662.4(MAP2K2):c.258C>A (p.Val86=) rs148437150 0.00008
NM_030662.4(MAP2K2):c.939G>T (p.Arg313=) rs397517417 0.00008
NM_032119.4(ADGRV1):c.8265C>T (p.Ser2755=) rs371820414 0.00008
NM_032119.4(ADGRV1):c.9888G>A (p.Gly3296=) rs372603399 0.00008
NM_032122.5(DTNBP1):c.790A>G (p.Thr264Ala) rs753618520 0.00008
NM_033337.3(CAV3):c.444G>A (p.Arg148=) rs376749605 0.00008
NM_033360.4(KRAS):c.5-11A>G rs369047577 0.00008
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=) rs369726425 0.00008
NM_033409.4(SLC52A3):c.363C>G (p.Thr121=) rs749966154 0.00008
NM_133261.3(GIPC3):c.57G>T (p.Ala19=) rs754337950 0.00008
NM_133261.3(GIPC3):c.639G>A (p.Ala213=) rs371566042 0.00008
NM_138691.3(TMC1):c.2129+15T>A rs747921456 0.00008
NM_139319.3(SLC17A8):c.1404C>T (p.Val468=) rs140537845 0.00008
NM_153676.4(USH1C):c.587G>A (p.Arg196Gln) rs397517883 0.00008
NM_153700.2(STRC):c.4260G>A (p.Lys1420=) rs140545217 0.00008
NM_170682.4(P2RX2):c.1219G>A (p.Gly407Ser) rs199712315 0.00008
NM_182548.4(LHFPL5):c.411G>A (p.Ala137=) rs140326236 0.00008
NM_203447.4(DOCK8):c.3543A>G (p.Val1181=) rs753242273 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.11008G>A (p.Glu3670Lys) rs140548353 0.00008
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698 0.00008
NM_206965.2(FTCD):c.1098+15A>G rs1060499859 0.00008
NM_213569.2(NEBL):c.204A>T (p.Thr68=) rs563150056 0.00008
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000138.5(FBN1):c.6372A>G (p.Ser2124=) rs397515832 0.00007
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln) rs147125175 0.00007
NM_000219.6(KCNE1):c.252C>T (p.Ser84=) rs138884514 0.00007
NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=) rs397515955 0.00007
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381 0.00007
NM_000257.4(MYH7):c.114C>T (p.Phe38=) rs146210693 0.00007
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=) rs368734580 0.00007
NM_000257.4(MYH7):c.5397A>G (p.Glu1799=) rs200374977 0.00007
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=) rs3729831 0.00007
NM_000260.4(MYO7A):c.2625G>A (p.Ala875=) rs375489617 0.00007
NM_000260.4(MYO7A):c.4650G>A (p.Pro1550=) rs751242817 0.00007
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=) rs778051833 0.00007
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_000335.5(SCN5A):c.993C>T (p.Asp331=) rs757715398 0.00007
NM_000363.5(TNNI3):c.246G>T (p.Pro82=) rs397516343 0.00007
NM_000363.5(TNNI3):c.373-4C>G rs2288530 0.00007
NM_000503.6(EYA1):c.1377T>A (p.Ala459=) rs112593082 0.00007
NM_000601.6(HGF):c.1832G>C (p.Ser611Thr) rs141774517 0.00007
NM_001005242.3(PKP2):c.795G>T (p.Gly265=) rs375268778 0.00007
NM_001038603.3(MARVELD2):c.592G>A (p.Val198Met) rs201914751 0.00007
NM_001105206.3(LAMA4):c.1077+8dup rs397516713 0.00007
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His) rs397516723 0.00007
NM_001127453.2(GSDME):c.1179C>T (p.Leu393=) rs368035633 0.00007
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) rs373797219 0.00007
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=) rs727503388 0.00007
NM_001145809.2(MYH14):c.3777C>T (p.His1259=) rs371116668 0.00007
NM_001145809.2(MYH14):c.4800T>C (p.Asn1600=) rs772671104 0.00007
NM_001199799.2(ILDR1):c.1324C>T (p.Arg442Cys) rs141559449 0.00007
NM_001256317.3(TMPRSS3):c.975G>T (p.Leu325=) rs397517379 0.00007
NM_001267550.2(TTN):c.102183C>T (p.Arg34061=) rs727504536 0.00007
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=) rs541125667 0.00007
NM_001267550.2(TTN):c.43167C>T (p.Ser14389=) rs375780439 0.00007
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr) rs374419129 0.00007
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=) rs371155050 0.00007
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=) rs183047238 0.00007
NM_001267550.2(TTN):c.561G>A (p.Ser187=) rs141444282 0.00007
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00007
NM_001267550.2(TTN):c.58122C>G (p.Thr19374=) rs189818369 0.00007
NM_001267550.2(TTN):c.64326G>A (p.Ala21442=) rs377109969 0.00007
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=) rs181702963 0.00007
NM_001267550.2(TTN):c.76854A>G (p.Val25618=) rs192902075 0.00007
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118 0.00007
NM_001276345.2(TNNT2):c.52+7G>A rs374443596 0.00007
NM_001292063.2(OTOG):c.3264C>T (p.His1088=) rs776482697 0.00007
NM_001384474.1(LOXHD1):c.3279C>T (p.His1093=) rs751278435 0.00007
NM_001384474.1(LOXHD1):c.3846C>T (p.Asn1282=) rs759329010 0.00007
NM_001384474.1(LOXHD1):c.4842C>T (p.Thr1614=) rs779714173 0.00007
NM_001384474.1(LOXHD1):c.6084C>T (p.Gly2028=) rs779218726 0.00007
NM_001614.5(ACTG1):c.168C>T (p.Asp56=) rs368299537 0.00007
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661 0.00007
NM_002473.6(MYH9):c.2719A>G (p.Thr907Ala) rs754354210 0.00007
NM_002473.6(MYH9):c.5151-4G>A rs368125656 0.00007
NM_002880.4(RAF1):c.1515T>C (p.Pro505=) rs140668986 0.00007
NM_002906.4(RDX):c.906A>G (p.Val302=) rs375582413 0.00007
NM_004415.4(DSP):c.1839C>T (p.Thr613=) rs397516921 0.00007
NM_004415.4(DSP):c.7563T>C (p.Asp2521=) rs984412074 0.00007
NM_004517.4(ILK):c.252G>A (p.Gln84=) rs757818130 0.00007
NM_004817.4(TJP2):c.3407+3A>G rs727505291 0.00007
NM_005159.5(ACTC1):c.465G>A (p.Leu155=) rs397517062 0.00007
NM_005422.4(TECTA):c.2184C>T (p.Ser728=) rs148638616 0.00007
NM_005422.4(TECTA):c.696T>C (p.Asn232=) rs149758927 0.00007
NM_005633.4(SOS1):c.1854C>T (p.Tyr618=) rs727505181 0.00007
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu) rs373669861 0.00007
NM_006941.4(SOX10):c.1245G>A (p.Ser415=) rs200970285 0.00007
NM_015404.4(WHRN):c.1716C>T (p.Thr572=) rs760471578 0.00007
NM_016599.5(MYOZ2):c.245A>C (p.Asn82Thr) rs149125238 0.00007
NM_017433.5(MYO3A):c.3027C>T (p.Ser1009=) rs141341808 0.00007
NM_017780.4(CHD7):c.4659T>A (p.Ile1553=) rs748644473 0.00007
NM_021116.4(ADCY1):c.1983+10T>A rs12721475 0.00007
NM_022114.4(PRDM16):c.1839C>T (p.Thr613=) rs549179676 0.00007
NM_022114.4(PRDM16):c.3135G>A (p.Thr1045=) rs761078027 0.00007
NM_022124.6(CDH23):c.1068C>T (p.Ala356=) rs141247813 0.00007
NM_022124.6(CDH23):c.1449+100A>C rs758005146 0.00007
NM_022124.6(CDH23):c.996G>A (p.Thr332=) rs727504715 0.00007
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr) rs199689484 0.00007
NM_024915.4(GRHL2):c.816A>G (p.Lys272=) rs760857170 0.00007
NM_032119.4(ADGRV1):c.10614A>G (p.Gln3538=) rs182626712 0.00007
NM_032119.4(ADGRV1):c.13185C>T (p.Asn4395=) rs371623591 0.00007
NM_032119.4(ADGRV1):c.453+8C>T rs768784430 0.00007
NM_032229.3(SLITRK6):c.1029T>C (p.Leu343=) rs200156618 0.00007
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00007
NM_057176.3(BSND):c.225A>G (p.Pro75=) rs755110588 0.00007
NM_080680.3(COL11A2):c.106C>T (p.Arg36Trp) rs118097056 0.00007
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_133379.5(TTN):c.11253A>G (p.Arg3751=) rs374616494 0.00007
NM_133379.5(TTN):c.16602G>A (p.Gln5534=) rs141624211 0.00007
NM_138691.3(TMC1):c.1263A>G (p.Pro421=) rs139985214 0.00007
NM_147196.3(TMIE):c.174C>T (p.His58=) rs373379198 0.00007
NM_153676.4(USH1C):c.2004C>A (p.Pro668=) rs201586291 0.00007
NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln) rs374696855 0.00007
NM_178335.3(CCDC50):c.113-4C>G rs145892736 0.00007
NM_194248.3(OTOF):c.1569C>T (p.Asp523=) rs111440869 0.00007
NM_194248.3(OTOF):c.5159C>T (p.Thr1720Met) rs375712326 0.00007
NM_206933.4(USH2A):c.6524G>A (p.Arg2175His) rs140845899 0.00007
NM_000062.3(SERPING1):c.279G>A (p.Glu93=) rs778803626 0.00006
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=) rs397515839 0.00006
NM_000218.3(KCNQ1):c.1514+7G>T rs372593469 0.00006
NM_000218.3(KCNQ1):c.1795-4G>A rs769865006 0.00006
NM_000218.3(KCNQ1):c.225T>C (p.Val75=) rs367817352 0.00006
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) rs727504769 0.00006
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=) rs377579620 0.00006
NM_000256.3(MYBPC3):c.1335G>A (p.Thr445=) rs727503205 0.00006
NM_000256.3(MYBPC3):c.1815C>T (p.Asp605=) rs768380030 0.00006
NM_000256.3(MYBPC3):c.2310C>T (p.Asp770=) rs397515959 0.00006
NM_000256.3(MYBPC3):c.654+12G>A rs397516065 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.115G>A (p.Val39Met) rs376160714 0.00006
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00006
NM_000257.4(MYH7):c.1888+8G>T rs200668471 0.00006
NM_000257.4(MYH7):c.2922G>A (p.Lys974=) rs147727900 0.00006
NM_000257.4(MYH7):c.4053G>A (p.Thr1351=) rs397516200 0.00006
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405 0.00006
NM_000257.4(MYH7):c.474C>T (p.Ser158=) rs200444892 0.00006
NM_000257.4(MYH7):c.5559+8G>A rs377473156 0.00006
NM_000258.3(MYL3):c.420C>T (p.Phe140=) rs201138698 0.00006
NM_000260.4(MYO7A):c.3270G>A (p.Leu1090=) rs370305347 0.00006
NM_000260.4(MYO7A):c.3503+9C>T rs1481745974 0.00006
NM_000260.4(MYO7A):c.4254C>T (p.Pro1418=) rs548434591 0.00006
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg) rs781713344 0.00006
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190 0.00006
NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=) rs375254452 0.00006
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00006
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789 0.00006
NM_000441.2(SLC26A4):c.1470C>T (p.Ile490=) rs140918297 0.00006
NM_000503.6(EYA1):c.121G>A (p.Glu41Lys) rs561111097 0.00006
NM_000542.5(SFTPB):c.357C>T (p.Tyr119=) rs368293273 0.00006
NM_000601.6(HGF):c.1814C>T (p.Thr605Ile) rs147075806 0.00006
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365 0.00006
NM_001018008.2(TPM1):c.695G>A (p.Arg232His) rs730881128 0.00006
NM_001035.3(RYR2):c.13206C>T (p.Leu4402=) rs397516509 0.00006
NM_001035.3(RYR2):c.1518C>T (p.His506=) rs372620246 0.00006
NM_001035.3(RYR2):c.1612+13A>G rs368200572 0.00006
NM_001035.3(RYR2):c.6166+8G>A rs373112536 0.00006
NM_001035.3(RYR2):c.7494G>A (p.Ala2498=) rs533068485 0.00006
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=) rs370740528 0.00006
NM_001038603.3(MARVELD2):c.306G>A (p.Pro102=) rs181575833 0.00006
NM_001038603.3(MARVELD2):c.60C>T (p.Asp20=) rs1264640823 0.00006
NM_001039141.3(TRIOBP):c.5949C>T (p.Ser1983=) rs746538137 0.00006
NM_001039141.3(TRIOBP):c.6324+236G>A rs140572991 0.00006
NM_001039141.3(TRIOBP):c.6325-10C>T rs727503527 0.00006
NM_001039213.4(CEACAM16):c.1045G>A (p.Ala349Thr) rs187740201 0.00006
NM_001039213.4(CEACAM16):c.546C>T (p.Asp182=) rs747829770 0.00006
NM_001042492.3(NF1):c.6375G>A (p.Leu2125=) rs773467465 0.00006
NM_001042545.2(LTBP4):c.3975G>A (p.Ala1325=) rs375560922 0.00006
NM_001103.4(ACTN2):c.1698C>T (p.Pro566=) rs148961019 0.00006
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=) rs137890030 0.00006
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=) rs149554430 0.00006
NM_001103.4(ACTN2):c.354C>T (p.Gly118=) rs539250948 0.00006
NM_001105206.3(LAMA4):c.1189+8T>C rs377133875 0.00006
NM_001105206.3(LAMA4):c.1353C>T (p.Tyr451=) rs782546070 0.00006
NM_001105206.3(LAMA4):c.228G>A (p.Ser76=) rs200589775 0.00006
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr) rs144123257 0.00006
NM_001105206.3(LAMA4):c.279C>T (p.Asp93=) rs397516726 0.00006
NM_001105206.3(LAMA4):c.2940A>C (p.Thr980=) rs397516727 0.00006
NM_001105206.3(LAMA4):c.3897A>G (p.Lys1299=) rs876657482 0.00006
NM_001105206.3(LAMA4):c.967-13C>T rs782148493 0.00006
NM_001128840.3(CACNA1D):c.1749C>T (p.Phe583=) rs565265907 0.00006
NM_001128840.3(CACNA1D):c.4926G>A (p.Ala1642=) rs568306347 0.00006
NM_001128840.3(CACNA1D):c.5643C>T (p.Pro1881=) rs189057793 0.00006
NM_001134363.3(RBM20):c.348C>T (p.Ala116=) rs569709951 0.00006
NM_001134363.3(RBM20):c.774G>A (p.Ser258=) rs569846404 0.00006
NM_001145809.2(MYH14):c.2334C>A (p.Leu778=) rs190941610 0.00006
NM_001145809.2(MYH14):c.5128-12C>T rs372261958 0.00006
NM_001199107.2(TBC1D24):c.243C>T (p.Ile81=) rs745405784 0.00006
NM_001199799.2(ILDR1):c.660C>T (p.His220=) rs759965447 0.00006
NM_001199799.2(ILDR1):c.801C>G (p.Leu267=) rs149548365 0.00006
NM_001232.4(CASQ2):c.270C>A (p.Gly90=) rs72554056 0.00006
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu) rs199696688 0.00006
NM_001256317.3(TMPRSS3):c.1053C>T (p.Asp351=) rs397517369 0.00006
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00006
NM_001267550.2(TTN):c.12558A>G (p.Pro4186=) rs72648921 0.00006
NM_001267550.2(TTN):c.18231C>T (p.Thr6077=) rs377639910 0.00006
NM_001267550.2(TTN):c.21545G>A (p.Arg7182Gln) rs200447686 0.00006
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met) rs368151971 0.00006
NM_001267550.2(TTN):c.27015T>C (p.Gly9005=) rs727503643 0.00006
NM_001267550.2(TTN):c.33173-4G>A rs727504440 0.00006
NM_001267550.2(TTN):c.45083-12C>T rs377143579 0.00006
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) rs72677247 0.00006
NM_001267550.2(TTN):c.53002+10G>A rs370352450 0.00006
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563 0.00006
NM_001267550.2(TTN):c.60471C>T (p.Ala20157=) rs397517645 0.00006
NM_001267550.2(TTN):c.64860G>A (p.Arg21620=) rs373713828 0.00006
NM_001267550.2(TTN):c.65379C>T (p.Phe21793=) rs377017745 0.00006
NM_001267550.2(TTN):c.66160+15C>T rs377288086 0.00006
NM_001267550.2(TTN):c.66480G>A (p.Pro22160=) rs372814670 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.68208T>A (p.Val22736=) rs727503575 0.00006
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=) rs397517684 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu) rs200406978 0.00006
NM_001267550.2(TTN):c.83514C>T (p.Phe27838=) rs779213695 0.00006
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=) rs727504793 0.00006
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) rs561739832 0.00006
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp) rs2288326 0.00006
NM_001267550.2(TTN):c.95406A>G (p.Arg31802=) rs199652273 0.00006
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992 0.00006
NM_001267550.2(TTN):c.98544C>G (p.Ser32848=) rs756591209 0.00006
NM_001276345.2(TNNT2):c.295-14C>T rs747477576 0.00006
NM_001276345.2(TNNT2):c.90C>T (p.Asp30=) rs727503515 0.00006
NM_001292063.2(OTOG):c.3360A>G (p.Leu1120=) rs779322374 0.00006
NM_001292063.2(OTOG):c.5813C>T (p.Thr1938Met) rs758489218 0.00006
NM_001292063.2(OTOG):c.8220C>T (p.Leu2740=) rs749120808 0.00006
NM_001330691.3(CEP78):c.1273G>C (p.Val425Leu) rs375721961 0.00006
NM_001354604.2(MITF):c.623A>G (p.Glu208Gly) rs200108255 0.00006
NM_001354604.2(MITF):c.667-7C>T rs201271211 0.00006
NM_001369.3(DNAH5):c.5907T>C (p.Ala1969=) rs569572855 0.00006
NM_001379180.1(ESRRB):c.483G>A (p.Pro161=) rs778645048 0.00006
NM_001379180.1(ESRRB):c.924C>A (p.Gly308=) rs148356050 0.00006
NM_001384474.1(LOXHD1):c.2037G>A (p.Ala679=) rs201226222 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001384474.1(LOXHD1):c.4149G>A (p.Thr1383=) rs373657978 0.00006
NM_001384474.1(LOXHD1):c.4740+13G>T rs570127242 0.00006
NM_001386795.1(DTNA):c.603+15T>C rs367772080 0.00006
NM_001393500.2(TOMT):c.123A>G (p.Ser41=) rs397516626 0.00006
NM_001614.5(ACTG1):c.267C>T (p.Thr89=) rs140398667 0.00006
NM_001927.4(DES):c.99C>T (p.Pro33=) rs774006810 0.00006
NM_001943.5(DSG2):c.2085G>A (p.Thr695=) rs554396523 0.00006
NM_002109.6(HARS1):c.1312-8C>T rs772505507 0.00006
NM_002230.4(JUP):c.762C>T (p.Leu254=) rs781805854 0.00006
NM_002458.3(MUC5B):c.200-12C>T rs776408111 0.00006
NM_002471.4(MYH6):c.3787G>A (p.Val1263Met) rs375819633 0.00006
NM_002471.4(MYH6):c.4525+13T>C rs397516770 0.00006
NM_002471.4(MYH6):c.800-5C>T rs727505228 0.00006
NM_002473.6(MYH9):c.2839-6C>T rs774361853 0.00006
NM_002473.6(MYH9):c.4203C>T (p.His1401=) rs539186034 0.00006
NM_002473.6(MYH9):c.4479G>A (p.Ala1493=) rs149271663 0.00006
NM_002473.6(MYH9):c.4653C>T (p.Thr1551=) rs375806364 0.00006
NM_002473.6(MYH9):c.5130C>T (p.Ile1710=) rs150198935 0.00006
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002880.4(RAF1):c.66T>G (p.Phe22Leu) rs397516824 0.00006
NM_003673.4(TCAP):c.132C>T (p.Asp44=) rs397516861 0.00006
NM_003803.4(MYOM1):c.2350G>A (p.Glu784Lys) rs368949465 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004086.3(COCH):c.1221T>C (p.Ala407=) rs199608109 0.00006
NM_004281.4(BAG3):c.1422C>T (p.Ala474=) rs727505000 0.00006
NM_004333.6(BRAF):c.1084C>A (p.Arg362=) rs397516885 0.00006
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly) rs397516906 0.00006
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser) rs149773722 0.00006
NM_004415.4(DSP):c.8268A>C (p.Ile2756=) rs397516963 0.00006
NM_004568.6(SERPINB6):c.1092C>A (p.Thr364=) rs182270252 0.00006
NM_004568.6(SERPINB6):c.379G>A (p.Val127Ile) rs146252067 0.00006
NM_004985.5(KRAS):c.451-5560T>A rs373169526 0.00006
NM_004999.4(MYO6):c.3537C>T (p.Ala1179=) rs371212410 0.00006
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986 0.00006
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=) rs200506473 0.00006
NM_005379.4(MYO1A):c.771G>A (p.Ser257=) rs201705384 0.00006
NM_005422.4(TECTA):c.4044C>T (p.Tyr1348=) rs758718634 0.00006
NM_005422.4(TECTA):c.5304G>A (p.Ala1768=) rs373055342 0.00006
NM_005422.4(TECTA):c.6401C>T (p.Thr2134Met) rs372282487 0.00006
NM_006005.3(WFS1):c.1392C>T (p.Thr464=) rs565697340 0.00006
NM_006005.3(WFS1):c.1479C>T (p.Val493=) rs750126396 0.00006
NM_006005.3(WFS1):c.2359G>A (p.Ala787Thr) rs571946670 0.00006
NM_006393.3(NEBL):c.1272A>G (p.Gly424=) rs727504866 0.00006
NM_006393.3(NEBL):c.56G>A (p.Gly19Glu) rs727503338 0.00006
NM_007078.3(LDB3):c.689+9C>T rs727503124 0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=) rs147484763 0.00006
NM_015340.4(LARS2):c.1782G>T (p.Leu594=) rs145796540 0.00006
NM_015340.4(LARS2):c.763G>A (p.Ala255Thr) rs201911936 0.00006
NM_016239.4(MYO15A):c.10083-4A>C rs550552225 0.00006
NM_016239.4(MYO15A):c.264G>A (p.Thr88=) rs571886925 0.00006
NM_016239.4(MYO15A):c.381C>G (p.Leu127=) rs199520255 0.00006
NM_016239.4(MYO15A):c.3909C>T (p.Leu1303=) rs377070697 0.00006
NM_016239.4(MYO15A):c.4484C>T (p.Thr1495Met) rs760534158 0.00006
NM_016366.3(CABP2):c.345C>A (p.Thr115=) rs376093439 0.00006
NM_016929.5(CLIC5):c.342G>A (p.Ala114=) rs149700111 0.00006
NM_017433.5(MYO3A):c.542G>A (p.Arg181His) rs574220416 0.00006
NM_020297.4(ABCC9):c.4437T>C (p.Ile1479=) rs368079660 0.00006
NM_021116.4(ADCY1):c.1307+14G>A rs886629273 0.00006
NM_021116.4(ADCY1):c.2133G>A (p.Ser711=) rs149908239 0.00006
NM_022114.4(PRDM16):c.3366C>T (p.Asp1122=) rs370195954 0.00006
NM_022114.4(PRDM16):c.822C>T (p.Gly274=) rs372730781 0.00006
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321 0.00006
NM_022124.6(CDH23):c.6168C>T (p.Leu2056=) rs371570295 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val) rs3802707 0.00006
NM_023014.1(PRAMEF2):c.1233G>A (p.Thr411=) rs370982921 0.00006
NM_024009.3(GJB3):c.546C>T (p.Thr182=) rs370947069 0.00006
NM_024009.3(GJB3):c.99G>A (p.Val33=) rs727504610 0.00006
NM_024422.6(DSC2):c.1591A>C (p.Arg531=) rs727502981 0.00006
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429 0.00006
NM_031475.3(ESPN):c.1080G>A (p.Thr360=) rs373242735 0.00006
NM_032119.4(ADGRV1):c.12586C>T (p.Pro4196Ser) rs397517420 0.00006
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln) rs534266547 0.00006
NM_032119.4(ADGRV1):c.14433G>A (p.Pro4811=) rs373038870 0.00006
NM_032119.4(ADGRV1):c.18621G>A (p.Glu6207=) rs543269561 0.00006
NM_032119.4(ADGRV1):c.23-13C>G rs567154907 0.00006
NM_032119.4(ADGRV1):c.243A>T (p.Thr81=) rs376660492 0.00006
NM_032119.4(ADGRV1):c.3885T>G (p.Gly1295=) rs530678993 0.00006
NM_032119.4(ADGRV1):c.4349A>G (p.Lys1450Arg) rs372188446 0.00006
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568 0.00006
NM_033118.4(MYLK2):c.105C>T (p.Asp35=) rs551492045 0.00006
NM_033118.4(MYLK2):c.1224+8A>C rs375144075 0.00006
NM_033337.3(CAV3):c.39C>T (p.Ile13=) rs200562715 0.00006
NM_057176.3(BSND):c.425G>A (p.Gly142Glu) rs769608234 0.00006
NM_057176.3(BSND):c.842C>T (p.Ser281Leu) rs781101708 0.00006
NM_080680.3(COL11A2):c.1188C>T (p.Leu396=) rs532305958 0.00006
NM_080680.3(COL11A2):c.2178C>T (p.Asp726=) rs138650682 0.00006
NM_133261.3(GIPC3):c.702A>G (p.Glu234=) rs748059362 0.00006
NM_133261.3(GIPC3):c.706-7C>T rs775627552 0.00006
NM_133379.5(TTN):c.12387G>A (p.Leu4129=) rs142887857 0.00006
NM_138691.3(TMC1):c.483G>A (p.Glu161=) rs375984349 0.00006
NM_144991.3(TSPEAR):c.1500C>T (p.Ser500=) rs782070183 0.00006
NM_144991.3(TSPEAR):c.1754+7G>A rs200711828 0.00006
NM_153676.4(USH1C):c.1211-1188G>A rs199972595 0.00006
NM_153676.4(USH1C):c.2013+5T>C rs371038786 0.00006
NM_153676.4(USH1C):c.2112A>G (p.Pro704=) rs199532754 0.00006
NM_153676.4(USH1C):c.66G>A (p.Glu22=) rs768165881 0.00006
NM_153676.4(USH1C):c.921G>A (p.Ala307=) rs778447994 0.00006
NM_153700.2(STRC):c.4339G>A (p.Ala1447Thr) rs140238012 0.00006
NM_170707.4(LMNA):c.1381-6C>T rs371635492 0.00006
NM_170707.4(LMNA):c.1770C>T (p.Thr590=) rs397517896 0.00006
NM_173477.5(USH1G):c.510C>G (p.Ala170=) rs374630813 0.00006
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214 0.00006
NM_194248.3(OTOF):c.2452C>T (p.Arg818Trp) rs2272070 0.00006
NM_194248.3(OTOF):c.3480C>T (p.Ile1160=) rs375349663 0.00006
NM_194248.3(OTOF):c.447G>A (p.Thr149=) rs151257291 0.00006
NM_194248.3(OTOF):c.5115G>A (p.Glu1705=) rs150521317 0.00006
NM_201384.3(PLEC):c.12558G>A (p.Ser4186=) rs370789200 0.00006
NM_201384.3(PLEC):c.8475C>T (p.Pro2825=) rs374602421 0.00006
NM_206933.4(USH2A):c.1143+12C>T rs727505167 0.00006
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=) rs139847770 0.00006
NM_206933.4(USH2A):c.4886-12C>T rs199823130 0.00006
NM_206933.4(USH2A):c.5496G>A (p.Val1832=) rs146585940 0.00006
NM_206933.4(USH2A):c.5739G>A (p.Glu1913=) rs41277216 0.00006
NM_206933.4(USH2A):c.6279T>C (p.Asp2093=) rs200876799 0.00006
NM_206933.4(USH2A):c.6882C>T (p.Tyr2294=) rs147615382 0.00006
NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn) rs972796332 0.00005
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) rs181952966 0.00005
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp) rs200817090 0.00005
NM_000138.5(FBN1):c.247+10T>C rs367618012 0.00005
NM_000219.6(KCNE1):c.315G>A (p.Ser105=) rs563859144 0.00005
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=) rs397515906 0.00005
NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=) rs397515932 0.00005
NM_000256.3(MYBPC3):c.3003C>T (p.Pro1001=) rs397515996 0.00005
NM_000257.4(MYH7):c.1251C>G (p.Val417=) rs370628924 0.00005
NM_000257.4(MYH7):c.1323G>A (p.Thr441=) rs397516096 0.00005
NM_000257.4(MYH7):c.3273C>T (p.Asn1091=) rs200664031 0.00005
NM_000260.4(MYO7A):c.1821G>A (p.Ser607=) rs397516288 0.00005
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=) rs199979876 0.00005
NM_000260.4(MYO7A):c.5169-6C>T rs768594224 0.00005
NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=) rs368749248 0.00005
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=) rs377173580 0.00005
NM_000363.5(TNNI3):c.39C>G (p.Arg13=) rs397516346 0.00005
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu) rs368351103 0.00005
NM_000601.6(HGF):c.865+11G>A rs761252474 0.00005
NM_001005242.3(PKP2):c.1379-2072C>T rs758950276 0.00005
NM_001035.3(RYR2):c.10293T>C (p.Leu3431=) rs727505058 0.00005
NM_001035.3(RYR2):c.594C>T (p.Asn198=) rs727504676 0.00005
NM_001039141.3(TRIOBP):c.7017C>T (p.Ile2339=) rs149496377 0.00005
NM_001039213.4(CEACAM16):c.565C>T (p.His189Tyr) rs370890913 0.00005
NM_001080476.3(GRXCR1):c.747A>G (p.Pro249=) rs369500517 0.00005
NM_001103.4(ACTN2):c.1476A>T (p.Arg492=) rs397516569 0.00005
NM_001103.4(ACTN2):c.1485G>A (p.Thr495=) rs201179281 0.00005
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg) rs201047984 0.00005
NM_001145809.2(MYH14):c.3537C>T (p.Ala1179=) rs559356437 0.00005
NM_001145809.2(MYH14):c.4377C>T (p.Ala1459=) rs779641478 0.00005
NM_001195263.2(PDZD7):c.306C>T (p.Arg102=) rs141305163 0.00005
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517 0.00005
NM_001199799.2(ILDR1):c.1160C>G (p.Ser387Cys) rs746732835 0.00005
NM_001199799.2(ILDR1):c.1461G>A (p.Arg487=) rs189004426 0.00005
NM_001256317.3(TMPRSS3):c.993C>T (p.Asn331=) rs397517380 0.00005
NM_001267550.2(TTN):c.100257T>C (p.Asp33419=) rs727505046 0.00005
NM_001267550.2(TTN):c.100281C>T (p.Tyr33427=) rs373085562 0.00005
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys) rs375103237 0.00005
NM_001267550.2(TTN):c.14935+9C>T rs544241749 0.00005
NM_001267550.2(TTN):c.2280C>T (p.Val760=) rs727505021 0.00005
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=) rs199576800 0.00005
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=) rs370903846 0.00005
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598 0.00005
NM_001267550.2(TTN):c.50083C>A (p.Arg16695=) rs751502842 0.00005
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=) rs374672630 0.00005
NM_001267550.2(TTN):c.51739+14C>A rs727505018 0.00005
NM_001267550.2(TTN):c.83115C>T (p.Pro27705=) rs747021593 0.00005
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=) rs727504857 0.00005
NM_001267550.2(TTN):c.9519C>T (p.Asp3173=) rs151129843 0.00005
NM_001276345.2(TNNT2):c.567C>T (p.Ser189=) rs397516474 0.00005
NM_001292063.2(OTOG):c.5467G>A (p.Gly1823Ser) rs539129544 0.00005
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr) rs777809121 0.00005
NM_001378609.3(OTOGL):c.3184A>T (p.Ile1062Phe) rs188793584 0.00005
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00005
NM_001384474.1(LOXHD1):c.4147A>G (p.Thr1383Ala) rs1182325987 0.00005
NM_001384474.1(LOXHD1):c.4734C>T (p.Tyr1578=) rs376338995 0.00005
NM_001384474.1(LOXHD1):c.6050-15C>T rs397517864 0.00005
NM_001692.4(ATP6V1B1):c.189G>A (p.Ala63=) rs376581983 0.00005
NM_002473.6(MYH9):c.2635A>C (p.Met879Leu) rs200328859 0.00005
NM_002473.6(MYH9):c.2691C>T (p.Ala897=) rs148883810 0.00005
NM_002473.6(MYH9):c.3384T>C (p.Asn1128=) rs531623930 0.00005
NM_002473.6(MYH9):c.4800C>T (p.Asp1600=) rs201223994 0.00005
NM_002473.6(MYH9):c.5142C>T (p.Ser1714=) rs141854577 0.00005
NM_002700.3(POU4F3):c.295C>T (p.His99Tyr) rs756195567 0.00005
NM_002755.4(MAP2K1):c.957C>T (p.Asn319=) rs143019052 0.00005
NM_002764.4(PRPS1):c.864+10A>G rs200767443 0.00005
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920 0.00005
NM_004006.3(DMD):c.145C>T (p.Arg49Cys) rs147548697 0.00005
NM_004333.6(BRAF):c.2196C>G (p.Ser732=) rs142592480 0.00005
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066 0.00005
NM_004415.4(DSP):c.643G>A (p.Glu215Lys) rs148095061 0.00005
NM_004568.6(SERPINB6):c.18A>G (p.Glu6=) rs727505182 0.00005
NM_004568.6(SERPINB6):c.816G>A (p.Pro272=) rs151200580 0.00005
NM_004700.4(KCNQ4):c.1263G>A (p.Pro421=) rs727503105 0.00005
NM_004700.4(KCNQ4):c.315-9T>C rs548061300 0.00005
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00005
NM_005219.5(DIAPH1):c.3054G>A (p.Thr1018=) rs727502960 0.00005
NM_006005.3(WFS1):c.477C>T (p.Asn159=) rs753964845 0.00005
NM_006012.4(CLPP):c.153G>A (p.Thr51=) rs769823589 0.00005
NM_006393.3(NEBL):c.2761+15C>T rs760162209 0.00005
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu) rs375306400 0.00005
NM_015404.4(WHRN):c.1677C>T (p.Asn559=) rs138127153 0.00005
NM_016239.4(MYO15A):c.5301G>A (p.Ala1767=) rs371647200 0.00005
NM_016239.4(MYO15A):c.5886C>T (p.Tyr1962=) rs727503310 0.00005
NM_016239.4(MYO15A):c.6624G>A (p.Pro2208=) rs560456552 0.00005
NM_016239.4(MYO15A):c.6864G>A (p.Ser2288=) rs727503313 0.00005
NM_016239.4(MYO15A):c.9304-15C>T rs753539094 0.00005
NM_020297.4(ABCC9):c.48C>T (p.Asn16=) rs199631710 0.00005
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu) rs371145622 0.00005
NM_022124.6(CDH23):c.5481G>T (p.Gly1827=) rs375545532 0.00005
NM_024747.6(HPS6):c.455C>T (p.Ser152Leu) rs369112226 0.00005
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00005
NM_031475.3(ESPN):c.2027C>G (p.Thr676Arg) rs771737095 0.00005
NM_032119.4(ADGRV1):c.14532G>T (p.Leu4844=) rs367716487 0.00005
NM_032119.4(ADGRV1):c.2284C>T (p.Arg762Cys) rs41302842 0.00005
NM_032578.4(MYPN):c.1536C>T (p.Cys512=) rs569718340 0.00005
NM_032578.4(MYPN):c.3582C>T (p.Arg1194=) rs139820597 0.00005
NM_080680.3(COL11A2):c.4545G>A (p.Ser1515=) rs367885056 0.00005
NM_133379.5(TTN):c.12129A>G (p.Ala4043=) rs727503669 0.00005
NM_133379.5(TTN):c.15585T>C (p.Tyr5195=) rs149543721 0.00005
NM_147196.3(TMIE):c.366T>G (p.Asp122Glu) rs370899710 0.00005
NM_153676.4(USH1C):c.1907G>A (p.Arg636His) rs138017852 0.00005
NM_153700.2(STRC):c.4903G>T (p.Val1635Phe) rs2915791 0.00005
NM_194248.3(OTOF):c.5610C>T (p.Thr1870=) rs141119917 0.00005
NM_206933.4(USH2A):c.11443A>G (p.Ser3815Gly) rs149527139 0.00005
NM_206933.4(USH2A):c.13775A>G (p.Gln4592Arg) rs201864716 0.00005
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) rs200276882 0.00005
NM_000038.6(APC):c.1242C>T (p.Arg414=) rs751423790 0.00004
NM_000116.5(TAFAZZIN):c.583+10G>A rs370536414 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000169.3(GLA):c.1000-14T>C rs397515868 0.00004
NM_000218.3(KCNQ1):c.1033-4C>T rs543599445 0.00004
NM_000256.3(MYBPC3):c.1518C>T (p.Asp506=) rs397515908 0.00004
NM_000256.3(MYBPC3):c.1914C>T (p.Phe638=) rs377227442 0.00004
NM_000256.3(MYBPC3):c.1968A>G (p.Pro656=) rs397515940 0.00004
NM_000256.3(MYBPC3):c.2319C>T (p.Asp773=) rs397515962 0.00004
NM_000256.3(MYBPC3):c.2517C>T (p.Gly839=) rs370561202 0.00004
NM_000256.3(MYBPC3):c.2603-11C>T rs11570105 0.00004
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=) rs397515980 0.00004
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770 0.00004
NM_000256.3(MYBPC3):c.540C>T (p.Gly180=) rs371842442 0.00004
NM_000256.3(MYBPC3):c.639C>T (p.Tyr213=) rs727504858 0.00004
NM_000256.3(MYBPC3):c.645C>T (p.Arg215=) rs397516064 0.00004
NM_000257.4(MYH7):c.12G>A (p.Ser4=) rs45561941 0.00004
NM_000257.4(MYH7):c.1332T>C (p.Asn444=) rs397516099 0.00004
NM_000257.4(MYH7):c.2637C>T (p.Ser879=) rs199915408 0.00004
NM_000257.4(MYH7):c.28G>C (p.Gly10Arg) rs199577321 0.00004
NM_000257.4(MYH7):c.3771T>C (p.Asn1257=) rs375219617 0.00004
NM_000257.4(MYH7):c.3993C>T (p.His1331=) rs200288088 0.00004
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=) rs45523835 0.00004
NM_000257.4(MYH7):c.4827C>T (p.Asn1609=) rs587781085 0.00004
NM_000257.4(MYH7):c.5115G>A (p.Glu1705=) rs397516239 0.00004
NM_000258.3(MYL3):c.246G>A (p.Ala82=) rs368364468 0.00004
NM_000260.4(MYO7A):c.1690+15C>T rs781801012 0.00004
NM_000260.4(MYO7A):c.5748C>T (p.Phe1916=) rs756514910 0.00004
NM_000260.4(MYO7A):c.6384C>T (p.Ile2128=) rs748743374 0.00004
NM_000335.5(SCN5A):c.1195C>T (p.Leu399=) rs369253900 0.00004
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=) rs560476223 0.00004
NM_000335.5(SCN5A):c.954C>T (p.Asn318=) rs372623225 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000363.5(TNNI3):c.303C>T (p.His101=) rs199539066 0.00004
NM_000363.5(TNNI3):c.372+7C>T rs367809676 0.00004
NM_000363.5(TNNI3):c.6G>A (p.Ala2=) rs397516361 0.00004
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=) rs759047948 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000441.2(SLC26A4):c.322C>T (p.Leu108=) rs374545905 0.00004
NM_000492.4(CFTR):c.3180A>G (p.Lys1060=) rs142526976 0.00004
NM_000540.3(RYR1):c.14814C>T (p.Ile4938=) rs118192159 0.00004
NM_000601.6(HGF):c.2179C>T (p.Gln727Ter) rs140790665 0.00004
NM_001005242.3(PKP2):c.12C>T (p.Pro4=) rs397516991 0.00004
NM_001005242.3(PKP2):c.1608C>T (p.Asp536=) rs397517006 0.00004
NM_001005242.3(PKP2):c.1965A>G (p.Gln655=) rs727505293 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.714G>A (p.Pro238=) rs727503372 0.00004
NM_001035.3(RYR2):c.11115C>T (p.Asp3705=) rs752297019 0.00004
NM_001035.3(RYR2):c.11382C>T (p.Ala3794=) rs760519786 0.00004
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=) rs756280887 0.00004
NM_001035.3(RYR2):c.294+15G>A rs750047302 0.00004
NM_001035.3(RYR2):c.3423+10C>A rs876657577 0.00004
NM_001035.3(RYR2):c.345C>T (p.Tyr115=) rs397516525 0.00004
NM_001035.3(RYR2):c.385-14T>C rs372287944 0.00004
NM_001035.3(RYR2):c.4160+7A>G rs377465289 0.00004
NM_001039141.3(TRIOBP):c.*2+10G>A rs727503531 0.00004
NM_001039141.3(TRIOBP):c.477G>T (p.Arg159Ser) rs188030007 0.00004
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln) rs200850285 0.00004
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr) rs774276326 0.00004
NM_001042545.2(LTBP4):c.3066C>T (p.Cys1022=) rs727503154 0.00004
NM_001089.3(ABCA3):c.4668C>T (p.Thr1556=) rs727502872 0.00004
NM_001103.4(ACTN2):c.2052C>T (p.Asn684=) rs202135204 0.00004
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=) rs141884271 0.00004
NM_001103.4(ACTN2):c.2445C>T (p.Ile815=) rs397516575 0.00004
NM_001103.4(ACTN2):c.48G>A (p.Glu16=) rs397516580 0.00004
NM_001103.4(ACTN2):c.795G>A (p.Ala265=) rs757253639 0.00004
NM_001105206.3(LAMA4):c.2056+12C>T rs397516722 0.00004
NM_001105206.3(LAMA4):c.412C>T (p.His138Tyr) rs727503113 0.00004
NM_001110219.3(GJB6):c.117T>C (p.Ala39=) rs727503070 0.00004
NM_001128228.3(TPRN):c.1986G>A (p.Pro662=) rs373509671 0.00004
NM_001128840.3(CACNA1D):c.2221+14C>T rs373186365 0.00004
NM_001128840.3(CACNA1D):c.2721C>T (p.Asp907=) rs142208141 0.00004
NM_001128840.3(CACNA1D):c.5628C>T (p.Ile1876=) rs756947491 0.00004
NM_001128840.3(CACNA1D):c.5841G>A (p.Thr1947=) rs146425374 0.00004
NM_001134363.3(RBM20):c.1458C>T (p.Tyr486=) rs397516594 0.00004
NM_001134363.3(RBM20):c.363C>T (p.Asn121=) rs727504930 0.00004
NM_001134363.3(RBM20):c.441C>T (p.His147=) rs397516619 0.00004
NM_001145308.5(LRTOMT):c.35-4G>A rs781682346 0.00004
NM_001145809.2(MYH14):c.1665C>T (p.Pro555=) rs202104229 0.00004
NM_001145809.2(MYH14):c.3585G>A (p.Ala1195=) rs368190437 0.00004
NM_001145809.2(MYH14):c.975C>T (p.Ala325=) rs553878240 0.00004
NM_001146079.2(CLDN14):c.363C>T (p.Gly121=) rs763411863 0.00004
NM_001199107.2(TBC1D24):c.1142+14G>A rs745904419 0.00004
NM_001199107.2(TBC1D24):c.330C>T (p.Gly110=) rs779117497 0.00004
NM_001256317.3(TMPRSS3):c.309C>T (p.Asp103=) rs111033502 0.00004
NM_001256317.3(TMPRSS3):c.783C>T (p.Asp261=) rs397517378 0.00004
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr) rs370618537 0.00004
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991 0.00004
NM_001267550.2(TTN):c.11063T>C (p.Phe3688Ser) rs377296133 0.00004
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=) rs727503660 0.00004
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met) rs201046911 0.00004
NM_001267550.2(TTN):c.15978C>T (p.His5326=) rs397517482 0.00004
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) rs377556808 0.00004
NM_001267550.2(TTN):c.1914A>G (p.Glu638=) rs727504691 0.00004
NM_001267550.2(TTN):c.19356C>T (p.Ser6452=) rs369275615 0.00004
NM_001267550.2(TTN):c.1953C>T (p.Ala651=) rs778742098 0.00004
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=) rs727504579 0.00004
NM_001267550.2(TTN):c.21777T>A (p.Ile7259=) rs727505220 0.00004
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=) rs191854953 0.00004
NM_001267550.2(TTN):c.24227-15C>T rs397517505 0.00004
NM_001267550.2(TTN):c.26463C>T (p.Phe8821=) rs551600321 0.00004
NM_001267550.2(TTN):c.2883C>T (p.Thr961=) rs397517541 0.00004
NM_001267550.2(TTN):c.30088C>T (p.Pro10030Ser) rs368531555 0.00004
NM_001267550.2(TTN):c.30642A>G (p.Pro10214=) rs397517533 0.00004
NM_001267550.2(TTN):c.32722+8C>T rs765936606 0.00004
NM_001267550.2(TTN):c.34379-14T>C rs727505341 0.00004
NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg) rs541811273 0.00004
NM_001267550.2(TTN):c.39276G>A (p.Pro13092=) rs369002632 0.00004
NM_001267550.2(TTN):c.41329+9T>C rs779075177 0.00004
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=) rs147703145 0.00004
NM_001267550.2(TTN):c.48270C>T (p.Tyr16090=) rs397517592 0.00004
NM_001267550.2(TTN):c.49008G>A (p.Val16336=) rs781078888 0.00004
NM_001267550.2(TTN):c.51483G>A (p.Ala17161=) rs397517604 0.00004
NM_001267550.2(TTN):c.57112-11T>C rs553667328 0.00004
NM_001267550.2(TTN):c.597A>G (p.Val199=) rs144214844 0.00004
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=) rs143265948 0.00004
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile) rs368716894 0.00004
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe) rs374736305 0.00004
NM_001267550.2(TTN):c.67348+11G>C rs587780982 0.00004
NM_001267550.2(TTN):c.70036C>T (p.Leu23346=) rs397517681 0.00004
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=) rs377220635 0.00004
NM_001267550.2(TTN):c.75969T>C (p.Val25323=) rs368759398 0.00004
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His) rs397517725 0.00004
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=) rs368270588 0.00004
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu) rs199670463 0.00004
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=) rs557628408 0.00004
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=) rs397517736 0.00004
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=) rs376289479 0.00004
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=) rs727504439 0.00004
NM_001267550.2(TTN):c.91332C>T (p.Asn30444=) rs397517752 0.00004
NM_001267550.2(TTN):c.94230C>T (p.Ser31410=) rs373502790 0.00004
NM_001267550.2(TTN):c.9485A>G (p.Gln3162Arg) rs727503681 0.00004
NM_001267550.2(TTN):c.97464T>C (p.Ser32488=) rs571147766 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001267550.2(TTN):c.99102G>C (p.Trp33034Cys) rs397517778 0.00004
NM_001286445.3(RIPOR2):c.105G>A (p.Gln35=) rs376465905 0.00004
NM_001292063.2(OTOG):c.1343-8C>T rs876657551 0.00004
NM_001292063.2(OTOG):c.1641C>T (p.Gly547=) rs535620249 0.00004
NM_001292063.2(OTOG):c.7890C>T (p.Ser2630=) rs555614943 0.00004
NM_001292063.2(OTOG):c.8472T>C (p.Asp2824=) rs940623349 0.00004
NM_001318895.3(FHL2):c.84C>T (p.Cys28=) rs375234968 0.00004
NM_001330.5(CTF1):c.414C>A (p.Ala138=) rs727505121 0.00004
NM_001330691.3(CEP78):c.2107+10C>G rs374257343 0.00004
NM_001368067.1(LDB3):c.348C>T (p.Ala116=) rs397516557 0.00004
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=) rs201598829 0.00004
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396 0.00004
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr) rs760068474 0.00004
NM_001379180.1(ESRRB):c.1120+15G>A rs754237725 0.00004
NM_001379180.1(ESRRB):c.460+4C>T rs727503040 0.00004
NM_001384140.1(PCDH15):c.2811G>A (p.Pro937=) rs1449039709 0.00004
NM_001384474.1(LOXHD1):c.2721C>T (p.Asp907=) rs755305237 0.00004
NM_001384474.1(LOXHD1):c.3061+8G>T rs764128579 0.00004
NM_001384474.1(LOXHD1):c.3855C>T (p.Asp1285=) rs876657496 0.00004
NM_001384474.1(LOXHD1):c.5289G>A (p.Thr1763=) rs727503138 0.00004
NM_001384474.1(LOXHD1):c.6339T>C (p.Asn2113=) rs181548456 0.00004
NM_001384474.1(LOXHD1):c.927G>T (p.Gly309=) rs749677224 0.00004
NM_001614.5(ACTG1):c.255C>T (p.Ile85=) rs147001458 0.00004
NM_001614.5(ACTG1):c.803-13C>T rs376658586 0.00004
NM_001614.5(ACTG1):c.81C>T (p.Pro27=) rs11549230 0.00004
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341 0.00004
NM_002230.4(JUP):c.1914C>T (p.Asn638=) rs368772249 0.00004
NM_002230.4(JUP):c.2086+14G>A rs727504485 0.00004
NM_002230.4(JUP):c.945C>T (p.Leu315=) rs146804895 0.00004
NM_002294.3(LAMP2):c.1093+2589C>T rs377303143 0.00004
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val) rs397516741 0.00004
NM_002471.4(MYH6):c.297C>T (p.Pro99=) rs751088892 0.00004
NM_002471.4(MYH6):c.4125C>G (p.Thr1375=) rs876657518 0.00004
NM_002473.6(MYH9):c.1686G>A (p.Leu562=) rs199506577 0.00004
NM_002473.6(MYH9):c.3214G>A (p.Ala1072Thr) rs532156048 0.00004
NM_002473.6(MYH9):c.3915G>A (p.Ala1305=) rs183685723 0.00004
NM_002755.4(MAP2K1):c.439-8G>A rs747709090 0.00004
NM_002834.5(PTPN11):c.1278C>T (p.His426=) rs886038519 0.00004
NM_002834.5(PTPN11):c.1683G>A (p.Pro561=) rs397516798 0.00004
NM_002880.4(RAF1):c.435G>A (p.Thr145=) rs371565419 0.00004
NM_003803.4(MYOM1):c.4672T>C (p.Phe1558Leu) rs187108957 0.00004
NM_004004.6(GJB2):c.78C>T (p.Thr26=) rs201848820 0.00004
NM_004006.3(DMD):c.1503A>G (p.Glu501=) rs770464589 0.00004
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser) rs755456119 0.00004
NM_004006.3(DMD):c.4234-12T>C rs757851097 0.00004
NM_004086.3(COCH):c.971G>A (p.Arg324Gln) rs748731866 0.00004
NM_004100.5(EYA4):c.741A>G (p.Pro247=) rs752226573 0.00004
NM_004230.4(S1PR2):c.955G>A (p.Gly319Arg) rs139097585 0.00004
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_004447.6(EPS8):c.1449A>C (p.Ser483=) rs140797755 0.00004
NM_004447.6(EPS8):c.646C>G (p.Pro216Ala) rs201875630 0.00004
NM_004568.6(SERPINB6):c.378C>T (p.Ala126=) rs752725436 0.00004
NM_004568.6(SERPINB6):c.460T>G (p.Ser154Ala) rs727503416 0.00004
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_005219.5(DIAPH1):c.2538A>G (p.Val846=) rs973415272 0.00004
NM_005343.4(HRAS):c.249C>T (p.Ala83=) rs111372582 0.00004
NM_005343.4(HRAS):c.363T>C (p.Ala121=) rs146440188 0.00004
NM_005379.4(MYO1A):c.1333-8C>T rs727505302 0.00004
NM_005379.4(MYO1A):c.1928G>A (p.Arg643Gln) rs200450661 0.00004
NM_005379.4(MYO1A):c.2316C>T (p.Ala772=) rs147832651 0.00004
NM_005422.4(TECTA):c.2358G>A (p.Ser786=) rs145498566 0.00004
NM_005422.4(TECTA):c.240C>T (p.Ser80=) rs142064539 0.00004
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val) rs760917490 0.00004
NM_006005.3(WFS1):c.1237T>G (p.Phe413Val) rs71524356 0.00004
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343 0.00004
NM_006005.3(WFS1):c.2334C>T (p.Thr778=) rs71526460 0.00004
NM_006005.3(WFS1):c.2355C>T (p.Ser785=) rs201731358 0.00004
NM_006005.3(WFS1):c.375C>T (p.Thr125=) rs762324196 0.00004
NM_006393.3(NEBL):c.1008+15G>A rs375728589 0.00004
NM_006393.3(NEBL):c.2347-9C>T rs750957531 0.00004
NM_006393.3(NEBL):c.2445G>A (p.Val815=) rs578252294 0.00004
NM_007078.3(LDB3):c.689+15T>C rs375094467 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.867C>T (p.Asp289=) rs397517227 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_012208.4(HARS2):c.1077T>G (p.Ala359=) rs776286420 0.00004
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val) rs144770680 0.00004
NM_015340.4(LARS2):c.1104C>G (p.Gly368=) rs747618737 0.00004
NM_015340.4(LARS2):c.1123+8G>C rs770963717 0.00004
NM_015340.4(LARS2):c.2490G>A (p.Pro830=) rs374014256 0.00004
NM_015404.4(WHRN):c.1176C>T (p.Gly392=) rs200276167 0.00004
NM_015404.4(WHRN):c.1417-8G>A rs202228471 0.00004
NM_015404.4(WHRN):c.2073C>T (p.Ser691=) rs768690928 0.00004
NM_015404.4(WHRN):c.2085G>A (p.Glu695=) rs140043085 0.00004
NM_015404.4(WHRN):c.2193C>T (p.Ser731=) rs147358257 0.00004
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) rs373552185 0.00004
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) rs397517268 0.00004
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) rs764162597 0.00004
NM_016239.4(MYO15A):c.4251C>T (p.Ala1417=) rs764113282 0.00004
NM_016239.4(MYO15A):c.4932G>A (p.Gln1644=) rs773598909 0.00004
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=) rs370047914 0.00004
NM_016239.4(MYO15A):c.5934G>A (p.Gln1978=) rs542354280 0.00004
NM_017433.5(MYO3A):c.1725C>G (p.Ser575=) rs201882363 0.00004
NM_017433.5(MYO3A):c.4350T>C (p.Ile1450=) rs397517294 0.00004
NM_020297.4(ABCC9):c.2157C>T (p.Leu719=) rs201848437 0.00004
NM_020297.4(ABCC9):c.816+11G>A rs200986421 0.00004
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) rs397517309 0.00004
NM_022124.6(CDH23):c.1620C>T (p.Gly540=) rs374231594 0.00004
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310 0.00004
NM_022124.6(CDH23):c.4210-13C>T rs377079875 0.00004
NM_022124.6(CDH23):c.5025C>T (p.Val1675=) rs775157930 0.00004
NM_022124.6(CDH23):c.5919C>T (p.Pro1973=) rs752519912 0.00004
NM_022124.6(CDH23):c.5937G>A (p.Thr1979=) rs397517347 0.00004
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu) rs537971045 0.00004
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=) rs568741210 0.00004
NM_022124.6(CDH23):c.9511-7T>C rs531195164 0.00004
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile) rs750750518 0.00004
NM_024334.3(TMEM43):c.402C>T (p.Thr134=) rs370422391 0.00004
NM_024422.6(DSC2):c.1776G>A (p.Ala592=) rs727502980 0.00004
NM_024422.6(DSC2):c.2208C>T (p.Asn736=) rs727504534 0.00004
NM_024915.4(GRHL2):c.1212A>G (p.Lys404=) rs202007390 0.00004
NM_024915.4(GRHL2):c.1348T>A (p.Ser450Thr) rs141136371 0.00004
NM_031475.3(ESPN):c.1947G>A (p.Thr649=) rs377497281 0.00004
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser) rs576429729 0.00004
NM_032119.4(ADGRV1):c.1292C>T (p.Ala431Val) rs111723628 0.00004
NM_032119.4(ADGRV1):c.14043+7C>T rs563519322 0.00004
NM_032119.4(ADGRV1):c.14889G>A (p.Thr4963=) rs370103595 0.00004
NM_032119.4(ADGRV1):c.18519G>T (p.Gly6173=) rs752223599 0.00004
NM_032119.4(ADGRV1):c.3180G>A (p.Thr1060=) rs201516498 0.00004
NM_032229.3(SLITRK6):c.663C>T (p.Ala221=) rs201618207 0.00004
NM_032578.4(MYPN):c.3416G>A (p.Arg1139His) rs531222847 0.00004
NM_033056.4(PCDH15):c.4837G>A (p.Gly1613Arg) rs876657563 0.00004
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn) rs727503364 0.00004
NM_033118.4(MYLK2):c.417C>T (p.Ala139=) rs560951755 0.00004
NM_033118.4(MYLK2):c.558G>A (p.Thr186=) rs140695242 0.00004
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 0.00004
NM_057176.3(BSND):c.177+7G>A rs368723796 0.00004
NM_057176.3(BSND):c.315C>T (p.Ala105=) rs757808729 0.00004
NM_080680.3(COL11A2):c.4026C>T (p.Gly1342=) rs778423110 0.00004
NM_133261.3(GIPC3):c.213C>A (p.Ile71=) rs876657467 0.00004
NM_133379.5(TTN):c.12007C>T (p.Leu4003Phe) rs200550488 0.00004
NM_133379.5(TTN):c.14331G>C (p.Gly4777=) rs397517813 0.00004
NM_133379.5(TTN):c.14399G>A (p.Gly4800Glu) rs565140436 0.00004
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys) rs776361113 0.00004
NM_144573.4(NEXN):c.1065T>C (p.Asp355=) rs369897647 0.00004
NM_144573.4(NEXN):c.249G>A (p.Glu83=) rs372532824 0.00004
NM_144672.4(OTOA):c.2133C>T (p.His711=) rs201907941 0.00004
NM_144672.4(OTOA):c.645G>A (p.Val215=) rs759683702 0.00004
NM_144991.3(TSPEAR):c.1856+13C>T rs781882860 0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_170707.4(LMNA):c.837G>A (p.Glu279=) rs727505198 0.00004
NM_173477.5(USH1G):c.972T>C (p.Ser324=) rs773660538 0.00004
NM_178335.3(CCDC50):c.153G>A (p.Leu51=) rs201015131 0.00004
NM_194248.3(OTOF):c.1221C>T (p.Pro407=) rs727504716 0.00004
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459 0.00004
NM_194248.3(OTOF):c.1800G>A (p.Ser600=) rs397517936 0.00004
NM_194248.3(OTOF):c.2520C>T (p.Asp840=) rs147061068 0.00004
NM_194248.3(OTOF):c.2877G>A (p.Ala959=) rs111033424 0.00004
NM_194248.3(OTOF):c.4185C>T (p.Ser1395=) rs148819838 0.00004
NM_194248.3(OTOF):c.4500+11C>T rs727503353 0.00004
NM_198253.3(TERT):c.2793C>T (p.Cys931=) rs764925909 0.00004
NM_206933.4(USH2A):c.11121G>T (p.Lys3707Asn) rs111033515 0.00004
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170 0.00004
NM_206933.4(USH2A):c.12895A>C (p.Arg4299=) rs1197075904 0.00004
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=) rs200934092 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.3811+10C>A rs769756794 0.00004
NM_206933.4(USH2A):c.4126T>C (p.Tyr1376His) rs374449657 0.00004
NM_206933.4(USH2A):c.6765C>T (p.Asp2255=) rs767205760 0.00004
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747 0.00004
NM_000091.5(COL4A3):c.4191A>G (p.Gly1397=) rs749383198 0.00003
NM_000092.5(COL4A4):c.888G>A (p.Gly296=) rs746239973 0.00003
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) rs397515743 0.00003
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00003
NM_000195.5(HPS1):c.1239G>T (p.Pro413=) rs777125097 0.00003
NM_000218.3(KCNQ1):c.1794+12C>G rs727505084 0.00003
NM_000218.3(KCNQ1):c.675G>A (p.Ser225=) rs148566141 0.00003
NM_000219.6(KCNE1):c.297C>G (p.Val99=) rs780553669 0.00003
NM_000256.3(MYBPC3):c.1308C>T (p.Cys436=) rs759826878 0.00003
NM_000256.3(MYBPC3):c.1758C>T (p.Pro586=) rs727505203 0.00003
NM_000256.3(MYBPC3):c.2178C>T (p.Arg726=) rs370676057 0.00003
NM_000256.3(MYBPC3):c.2308+12C>T rs727505335 0.00003
NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=) rs200372325 0.00003
NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile) rs542350927 0.00003
NM_000256.3(MYBPC3):c.3777G>A (p.Gln1259=) rs746042492 0.00003
NM_000257.4(MYH7):c.1608G>A (p.Glu536=) rs397516115 0.00003
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860 0.00003
NM_000257.4(MYH7):c.2658C>T (p.Asp886=) rs765948561 0.00003
NM_000257.4(MYH7):c.3337-10G>A rs397516181 0.00003
NM_000257.4(MYH7):c.3666C>T (p.Ser1222=) rs397516191 0.00003
NM_000257.4(MYH7):c.5656-5C>T rs200231434 0.00003
NM_000257.4(MYH7):c.733-9T>C rs944780538 0.00003
NM_000257.4(MYH7):c.895+12C>T rs186276057 0.00003
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306 0.00003
NM_000260.4(MYO7A):c.1606G>A (p.Ala536Thr) rs201046979 0.00003
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=) rs727504631 0.00003
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=) rs376743356 0.00003
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511 0.00003
NM_000260.4(MYO7A):c.593-4G>A rs876657534 0.00003
NM_000335.5(SCN5A):c.1188C>T (p.Val396=) rs749683415 0.00003
NM_000335.5(SCN5A):c.3879C>T (p.Ala1293=) rs372132916 0.00003
NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr) rs374618872 0.00003
NM_000395.3(CSF2RB):c.1107C>G (p.Asp369Glu) rs139685237 0.00003
NM_000414.4(HSD17B4):c.264T>C (p.Asp88=) rs763999607 0.00003
NM_000441.2(SLC26A4):c.1740G>A (p.Lys580=) rs573894071 0.00003
NM_000503.6(EYA1):c.1425C>T (p.Thr475=) rs727503043 0.00003
NM_000546.6(TP53):c.903A>G (p.Pro301=) rs72661120 0.00003
NM_001002295.2(GATA3):c.213G>C (p.Thr71=) rs767609253 0.00003
NM_001005242.3(PKP2):c.1080C>T (p.Leu360=) rs397516984 0.00003
NM_001005242.3(PKP2):c.611G>A (p.Arg204His) rs755215178 0.00003
NM_001018005.2(TPM1):c.375-3C>T rs202228866 0.00003
NM_001018005.2(TPM1):c.549T>C (p.Ala183=) rs199476313 0.00003
NM_001018116.2(CAVIN4):c.84C>T (p.Asp28=) rs745781742 0.00003
NM_001031679.3(MSRB3):c.198A>C (p.Gly66=) rs183150969 0.00003
NM_001032283.3(TMPO):c.565+1301A>G rs375249647 0.00003
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=) rs548313130 0.00003
NM_001035.3(RYR2):c.1477-8C>T rs876657575 0.00003
NM_001035.3(RYR2):c.4410A>G (p.Gly1470=) rs727503399 0.00003
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=) rs397516537 0.00003
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=) rs755520825 0.00003
NM_001039141.3(TRIOBP):c.5782A>G (p.Ile1928Val) rs781135139 0.00003
NM_001039213.4(CEACAM16):c.1104A>G (p.Gly368=) rs750455256 0.00003
NM_001042492.3(NF1):c.4362C>T (p.Leu1454=) rs864622298 0.00003
NM_001042492.3(NF1):c.861C>T (p.Asp287=) rs749949219 0.00003
NM_001103.4(ACTN2):c.18C>T (p.Pro6=) rs368367224 0.00003
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=) rs397516578 0.00003
NM_001105206.3(LAMA4):c.1444A>G (p.Asn482Asp) rs782319667 0.00003
NM_001105206.3(LAMA4):c.997G>A (p.Ala333Thr) rs576711704 0.00003
NM_001127453.2(GSDME):c.687C>T (p.Asp229=) rs371054976 0.00003
NM_001128840.3(CACNA1D):c.4575G>A (p.Arg1525=) rs371203266 0.00003
NM_001134363.3(RBM20):c.-6C>T rs397516589 0.00003
NM_001134363.3(RBM20):c.1056C>G (p.Pro352=) rs397516590 0.00003
NM_001134363.3(RBM20):c.2664T>C (p.Asp888=) rs397516605 0.00003
NM_001145809.2(MYH14):c.1626G>A (p.Leu542=) rs727504565 0.00003
NM_001145809.2(MYH14):c.4056G>A (p.Gly1352=) rs549322167 0.00003
NM_001145809.2(MYH14):c.4107C>T (p.Ser1369=) rs372927021 0.00003
NM_001145809.2(MYH14):c.4539+10C>T rs561531825 0.00003
NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=) rs575173753 0.00003
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103 0.00003
NM_001256317.3(TMPRSS3):c.1191+11G>A rs727505305 0.00003
NM_001267550.2(TTN):c.104385G>A (p.Lys34795=) rs397517790 0.00003
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=) rs727504441 0.00003
NM_001267550.2(TTN):c.18363G>A (p.Gln6121=) rs375032616 0.00003
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=) rs751902051 0.00003
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) rs397517492 0.00003
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn) rs747240394 0.00003
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr) rs374408615 0.00003
NM_001267550.2(TTN):c.22240+7A>C rs368101794 0.00003
NM_001267550.2(TTN):c.2397G>A (p.Thr799=) rs369313128 0.00003
NM_001267550.2(TTN):c.25002T>C (p.Tyr8334=) rs371334680 0.00003
NM_001267550.2(TTN):c.28818C>T (p.Tyr9606=) rs374117152 0.00003
NM_001267550.2(TTN):c.30129T>C (p.His10043=) rs764724866 0.00003
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=) rs367901929 0.00003
NM_001267550.2(TTN):c.32020C>G (p.Leu10674Val) rs766003250 0.00003
NM_001267550.2(TTN):c.44281+8T>C rs369121980 0.00003
NM_001267550.2(TTN):c.44592C>T (p.Val14864=) rs397517578 0.00003
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn) rs727503622 0.00003
NM_001267550.2(TTN):c.48021C>T (p.Asp16007=) rs368404578 0.00003
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=) rs727505248 0.00003
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile) rs567781604 0.00003
NM_001267550.2(TTN):c.55206C>A (p.Ile18402=) rs368272978 0.00003
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=) rs200864020 0.00003
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488 0.00003
NM_001267550.2(TTN):c.60975C>T (p.Ile20325=) rs727505195 0.00003
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr) rs558670891 0.00003
NM_001267550.2(TTN):c.63330G>A (p.Ala21110=) rs727504885 0.00003
NM_001267550.2(TTN):c.66804G>A (p.Arg22268=) rs370501197 0.00003
NM_001267550.2(TTN):c.67537T>C (p.Leu22513=) rs727504507 0.00003
NM_001267550.2(TTN):c.68449C>A (p.Arg22817=) rs371678190 0.00003
NM_001267550.2(TTN):c.72C>G (p.Thr24=) rs876657615 0.00003
NM_001267550.2(TTN):c.74112T>C (p.Ser24704=) rs397517697 0.00003
NM_001267550.2(TTN):c.74961C>T (p.Asn24987=) rs754043680 0.00003
NM_001267550.2(TTN):c.76674T>C (p.Asp25558=) rs375553630 0.00003
NM_001267550.2(TTN):c.91731C>T (p.Asp30577=) rs727505073 0.00003
NM_001267550.2(TTN):c.93570T>C (p.Asn31190=) rs746309005 0.00003
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile) rs150930737 0.00003
NM_001267550.2(TTN):c.96310+11T>C rs397517764 0.00003
NM_001267550.2(TTN):c.96960T>C (p.Ala32320=) rs141431591 0.00003
NM_001267550.2(TTN):c.98292A>G (p.Glu32764=) rs750078230 0.00003
NM_001267550.2(TTN):c.99405C>T (p.Tyr33135=) rs373722322 0.00003
NM_001276345.2(TNNT2):c.810+6C>T rs727504260 0.00003
NM_001277115.2(DNAH11):c.8647G>A (p.Glu2883Lys) rs752605468 0.00003
NM_001286445.3(RIPOR2):c.375G>T (p.Leu125=) rs375464333 0.00003
NM_001292063.2(OTOG):c.292+15C>T rs876657554 0.00003
NM_001292063.2(OTOG):c.4170G>A (p.Ser1390=) rs765085598 0.00003
NM_001292063.2(OTOG):c.6219C>T (p.Pro2073=) rs876657557 0.00003
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=) rs200809116 0.00003
NM_001292063.2(OTOG):c.8571C>T (p.Cys2857=) rs1166068398 0.00003
NM_001318895.3(FHL2):c.462T>C (p.Tyr154=) rs397517960 0.00003
NM_001354604.2(MITF):c.105-12836C>T rs779387274 0.00003
NM_001363118.2(SLC52A2):c.1293C>T (p.His431=) rs184190914 0.00003
NM_001378454.1(ALMS1):c.11696A>G (p.Lys3899Arg) rs1347288383 0.00003
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630 0.00003
NM_001384140.1(PCDH15):c.2379T>C (p.Asp793=) rs148920891 0.00003
NM_001384140.1(PCDH15):c.2538C>T (p.Val846=) rs727504573 0.00003
NM_001384140.1(PCDH15):c.4758G>A (p.Gln1586=) rs368096085 0.00003
NM_001384474.1(LOXHD1):c.2841C>T (p.Asp947=) rs761010290 0.00003
NM_001384474.1(LOXHD1):c.3162G>A (p.Thr1054=) rs727503144 0.00003
NM_001384474.1(LOXHD1):c.3293A>G (p.Asn1098Ser) rs876657494 0.00003
NM_001384474.1(LOXHD1):c.3816G>A (p.Thr1272=) rs1031241585 0.00003
NM_001384474.1(LOXHD1):c.4671G>A (p.Leu1557=) rs763078543 0.00003
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val) rs141749060 0.00003
NM_001614.5(ACTG1):c.498C>T (p.Tyr166=) rs373572370 0.00003
NM_001614.5(ACTG1):c.696C>T (p.Ser232=) rs202155328 0.00003
NM_001614.5(ACTG1):c.909C>T (p.Thr303=) rs187127467 0.00003
NM_001614.5(ACTG1):c.957C>T (p.Ala319=) rs377745600 0.00003
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593 0.00003
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783 0.00003
NM_001943.5(DSG2):c.84C>G (p.Val28=) rs397516711 0.00003
NM_002230.4(JUP):c.1218C>T (p.Asn406=) rs782565128 0.00003
NM_002230.4(JUP):c.1290A>G (p.Thr430=) rs897549158 0.00003
NM_002230.4(JUP):c.66C>T (p.Tyr22=) rs782575179 0.00003
NM_002294.3(LAMP2):c.276C>T (p.Phe92=) rs754577706 0.00003
NM_002458.3(MUC5B):c.15238G>A (p.Gly5080Ser) rs200503009 0.00003
NM_002458.3(MUC5B):c.2478+8C>A rs369614780 0.00003
NM_002471.4(MYH6):c.4959+12C>T rs371661383 0.00003
NM_002471.4(MYH6):c.736-9C>T rs748594445 0.00003
NM_002473.6(MYH9):c.2958G>C (p.Gln986His) rs199520053 0.00003
NM_002473.6(MYH9):c.4558-13C>T rs727504948 0.00003
NM_002473.6(MYH9):c.468C>T (p.Thr156=) rs727503293 0.00003
NM_002473.6(MYH9):c.5013C>T (p.Asn1671=) rs367872152 0.00003
NM_002473.6(MYH9):c.5718G>A (p.Thr1906=) rs727504711 0.00003
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873 0.00003
NM_002755.4(MAP2K1):c.156C>T (p.Ala52=) rs147489724 0.00003
NM_002880.4(RAF1):c.1108+15C>T rs727503383 0.00003
NM_002880.4(RAF1):c.63G>A (p.Val21=) rs377377296 0.00003
NM_002906.4(RDX):c.1413T>C (p.Pro471=) rs751528863 0.00003
NM_003019.5(SFTPD):c.158G>A (p.Arg53Gln) rs142564545 0.00003
NM_003280.3(TNNC1):c.24+13G>T rs748590123 0.00003
NM_003803.4(MYOM1):c.2598G>A (p.Pro866=) rs778413922 0.00003
NM_004004.6(GJB2):c.21G>A (p.Gln7=) rs137932057 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004006.3(DMD):c.1332-11C>T rs370927319 0.00003
NM_004100.5(EYA4):c.1437G>A (p.Arg479=) rs142263016 0.00003
NM_004281.4(BAG3):c.114C>T (p.Phe38=) rs727504929 0.00003
NM_004281.4(BAG3):c.781C>T (p.Arg261Trp) rs548032105 0.00003
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467 0.00003
NM_004333.6(BRAF):c.1694+14G>A rs184144181 0.00003
NM_004333.6(BRAF):c.2136C>T (p.Ala712=) rs377165711 0.00003
NM_004333.6(BRAF):c.622A>G (p.Ile208Val) rs727504571 0.00003
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_004415.4(DSP):c.21C>T (p.Ser7=) rs750532252 0.00003
NM_004415.4(DSP):c.3015A>G (p.Glu1005=) rs397516930 0.00003
NM_004415.4(DSP):c.5154G>A (p.Leu1718=) rs376620183 0.00003
NM_004568.6(SERPINB6):c.187G>A (p.Gly63Ser) rs727503417 0.00003
NM_004568.6(SERPINB6):c.313-15C>T rs190603417 0.00003
NM_005188.4(CBL):c.1512G>A (p.Pro504=) rs758285751 0.00003
NM_005219.5(DIAPH1):c.1164-10C>T rs777180488 0.00003
NM_005228.5(EGFR):c.2572C>T (p.Leu858=) rs121913443 0.00003
NM_005343.4(HRAS):c.282C>T (p.His94=) rs375893752 0.00003
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) rs397517142 0.00003
NM_005379.4(MYO1A):c.2162G>A (p.Arg721Gln) rs138855953 0.00003
NM_005422.4(TECTA):c.2445G>A (p.Thr815=) rs369919747 0.00003
NM_005422.4(TECTA):c.3291C>T (p.Asp1097=) rs763928462 0.00003
NM_005422.4(TECTA):c.4167C>T (p.Cys1389=) rs745818507 0.00003
NM_005422.4(TECTA):c.5808C>T (p.Leu1936=) rs377039794 0.00003
NM_005422.4(TECTA):c.6033C>T (p.Ile2011=) rs1350403244 0.00003
NM_005548.3(KARS1):c.157G>A (p.Ala53Thr) rs552944283 0.00003
NM_005548.3(KARS1):c.708G>C (p.Leu236=) rs876657479 0.00003
NM_006005.3(WFS1):c.143C>T (p.Ala48Val) rs397517195 0.00003
NM_006005.3(WFS1):c.1769C>T (p.Thr590Met) rs760280308 0.00003
NM_006005.3(WFS1):c.2406C>T (p.Ile802=) rs201102144 0.00003
NM_006012.4(CLPP):c.306G>A (p.Gln102=) rs375563974 0.00003
NM_006073.4(TRDN):c.592A>G (p.Thr198Ala) rs952211002 0.00003
NM_006393.3(NEBL):c.153+15T>G rs397517204 0.00003
NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu) rs200756166 0.00003
NM_006912.6(RIT1):c.45C>G (p.Pro15=) rs748838734 0.00003
NM_006941.4(SOX10):c.207C>T (p.Pro69=) rs199963686 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_012208.4(HARS2):c.1515G>T (p.Glu505Asp) rs370053420 0.00003
NM_015340.4(LARS2):c.2214+13C>G rs876657487 0.00003
NM_015404.4(WHRN):c.1596C>T (p.His532=) rs775240892 0.00003
NM_016203.4(PRKAG2):c.864+13C>T rs727505238 0.00003
NM_016239.4(MYO15A):c.1762C>A (p.Arg588=) rs774157005 0.00003
NM_016239.4(MYO15A):c.3640C>A (p.Arg1214=) rs201056676 0.00003
NM_016239.4(MYO15A):c.5028A>G (p.Leu1676=) rs926008291 0.00003
NM_016239.4(MYO15A):c.7762C>T (p.Arg2588Trp) rs778098806 0.00003
NM_016239.4(MYO15A):c.9702C>T (p.Asp3234=) rs768813635 0.00003
NM_016599.5(MYOZ2):c.768C>A (p.Thr256=) rs727503333 0.00003
NM_017433.5(MYO3A):c.472T>C (p.Leu158=) rs1412624643 0.00003
NM_017780.4(CHD7):c.6468C>T (p.Val2156=) rs777858802 0.00003
NM_017950.4(CCDC40):c.677-8C>T rs762961824 0.00003
NM_020297.4(ABCC9):c.1164+10G>A rs876657427 0.00003
NM_020297.4(ABCC9):c.1212C>T (p.Ser404=) rs376726505 0.00003
NM_020297.4(ABCC9):c.4569T>C (p.Asn1523=) rs727504538 0.00003
NM_021167.5(GATAD1):c.603C>T (p.Pro201=) rs150863199 0.00003
NM_022124.6(CDH23):c.1543A>G (p.Ile515Val) rs727504914 0.00003
NM_022124.6(CDH23):c.1680C>T (p.Thr560=) rs780822052 0.00003
NM_022124.6(CDH23):c.1866C>T (p.Ser622=) rs397517312 0.00003
NM_022124.6(CDH23):c.2790G>A (p.Pro930=) rs111033528 0.00003
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) rs111033490 0.00003
NM_022124.6(CDH23):c.5051G>C (p.Arg1684Pro) rs111033475 0.00003
NM_022124.6(CDH23):c.5328C>T (p.Asn1776=) rs371522191 0.00003
NM_022124.6(CDH23):c.535G>A (p.Ala179Thr) rs371422466 0.00003
NM_022124.6(CDH23):c.5523G>A (p.Val1841=) rs369513655 0.00003
NM_022124.6(CDH23):c.6949G>T (p.Ala2317Ser) rs727502930 0.00003
NM_022124.6(CDH23):c.8286G>A (p.Ala2762=) rs727504445 0.00003
NM_024009.3(GJB3):c.589G>A (p.Val197Ile) rs376506263 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_030662.4(MAP2K2):c.1065G>A (p.Ala355=) rs374807671 0.00003
NM_030662.4(MAP2K2):c.705+10C>T rs372898071 0.00003
NM_031475.3(ESPN):c.2405+12G>A rs876657462 0.00003
NM_032119.4(ADGRV1):c.12148G>A (p.Asp4050Asn) rs576743510 0.00003
NM_032119.4(ADGRV1):c.12721G>A (p.Ala4241Thr) rs727504627 0.00003
NM_032119.4(ADGRV1):c.13287T>C (p.Tyr4429=) rs372799791 0.00003
NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met) rs375258567 0.00003
NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val) rs201767389 0.00003
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile) rs764987437 0.00003
NM_032229.3(SLITRK6):c.403C>T (p.Leu135=) rs200025237 0.00003
NM_032578.4(MYPN):c.3417C>T (p.Arg1139=) rs144488384 0.00003
NM_032578.4(MYPN):c.3591C>A (p.Gly1197=) rs876657538 0.00003
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=) rs375134176 0.00003
NM_033380.3(COL4A5):c.2604C>T (p.Pro868=) rs781337825 0.00003
NM_057176.3(BSND):c.375T>C (p.Ser125=) rs751676380 0.00003
NM_057176.3(BSND):c.917T>C (p.Leu306Pro) rs139049536 0.00003
NM_080680.3(COL11A2):c.1716T>C (p.His572=) rs533884328 0.00003
NM_080680.3(COL11A2):c.4206C>T (p.Gly1402=) rs201642192 0.00003
NM_080680.3(COL11A2):c.5166G>A (p.Pro1722=) rs768399249 0.00003
NM_133261.3(GIPC3):c.915C>T (p.Gly305=) rs142749099 0.00003
NM_133379.5(TTN):c.14790C>G (p.Val4930=) rs370038956 0.00003
NM_133379.5(TTN):c.16221G>A (p.Pro5407=) rs397517819 0.00003
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys) rs148443938 0.00003
NM_139276.3(STAT3):c.1366-9C>T rs375054973 0.00003
NM_144498.4(OSBPL2):c.30C>T (p.Ala10=) rs374275739 0.00003
NM_144672.4(OTOA):c.1353C>T (p.Gly451=) rs374219815 0.00003
NM_144672.4(OTOA):c.981-125T>C rs201435154 0.00003
NM_144991.3(TSPEAR):c.1338C>A (p.Gly446=) rs148471285 0.00003
NM_144991.3(TSPEAR):c.271G>A (p.Val91Ile) rs1555921926 0.00003
NM_144991.3(TSPEAR):c.41C>T (p.Ala14Val) rs140778310 0.00003
NM_153676.4(USH1C):c.1548G>A (p.Pro516=) rs780428813 0.00003
NM_153676.4(USH1C):c.1792C>T (p.Arg598Cys) rs111033520 0.00003
NM_153676.4(USH1C):c.675-4G>A rs550964012 0.00003
NM_153700.2(STRC):c.4237A>T (p.Thr1413Ser) rs754834213 0.00003
NM_170682.4(P2RX2):c.1310G>A (p.Arg437Gln) rs115260724 0.00003
NM_170707.4(LMNA):c.78C>T (p.Ile26=) rs373721390 0.00003
NM_181458.4(PAX3):c.1116T>A (p.Pro372=) rs770424826 0.00003
NM_194248.3(OTOF):c.100G>A (p.Val34Ile) rs397517933 0.00003
NM_194248.3(OTOF):c.1071C>A (p.Ala357=) rs767723798 0.00003
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935 0.00003
NM_194248.3(OTOF):c.4783G>A (p.Ala1595Thr) rs772763082 0.00003
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846 0.00003
NM_194248.3(OTOF):c.80-15C>T rs1487527833 0.00003
NM_198253.3(TERT):c.834C>A (p.Pro278=) rs375423906 0.00003
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys) rs397517969 0.00003
NM_206933.4(USH2A):c.4958G>A (p.Arg1653Gln) rs372436408 0.00003
NM_206933.4(USH2A):c.5130C>T (p.Pro1710=) rs747065891 0.00003
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe) rs370597096 0.00003
NM_206933.4(USH2A):c.627G>A (p.Lys209=) rs146402815 0.00003
NM_206933.4(USH2A):c.7451+3G>A rs397518030 0.00003
NM_206933.4(USH2A):c.7617G>A (p.Pro2539=) rs773159617 0.00003
NM_000169.3(GLA):c.320A>G (p.Gln107Arg) rs727505060 0.00002
NM_000179.3(MSH6):c.354A>G (p.Thr118=) rs558590898 0.00002
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000218.3(KCNQ1):c.507G>A (p.Thr169=) rs375845797 0.00002
NM_000218.3(KCNQ1):c.948G>C (p.Gly316=) rs727505231 0.00002
NM_000219.6(KCNE1):c.174C>G (p.Thr58=) rs727503101 0.00002
NM_000256.3(MYBPC3):c.1290C>T (p.Asp430=) rs200664621 0.00002
NM_000256.3(MYBPC3):c.1320C>T (p.Gly440=) rs368192024 0.00002
NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=) rs727503199 0.00002
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929 0.00002
NM_000256.3(MYBPC3):c.2163C>T (p.Thr721=) rs397515951 0.00002
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181 0.00002
NM_000256.3(MYBPC3):c.960C>T (p.Asp320=) rs369900803 0.00002
NM_000257.4(MYH7):c.1518C>T (p.Ile506=) rs397516108 0.00002
NM_000257.4(MYH7):c.2976G>A (p.Leu992=) rs368728770 0.00002
NM_000257.4(MYH7):c.3462C>T (p.Gly1154=) rs397516185 0.00002
NM_000257.4(MYH7):c.354G>A (p.Ser118=) rs368925624 0.00002
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=) rs150552664 0.00002
NM_000257.4(MYH7):c.5286C>T (p.Ala1762=) rs771432461 0.00002
NM_000257.4(MYH7):c.5559+11C>T rs565014760 0.00002
NM_000257.4(MYH7):c.5559+9G>A rs727503241 0.00002
NM_000260.4(MYO7A):c.3583G>A (p.Val1195Met) rs781958107 0.00002
NM_000260.4(MYO7A):c.4362C>A (p.Val1454=) rs374492441 0.00002
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399 0.00002
NM_000260.4(MYO7A):c.4857C>T (p.Gly1619=) rs749483109 0.00002
NM_000260.4(MYO7A):c.618C>T (p.Arg206=) rs375851346 0.00002
NM_000260.4(MYO7A):c.6264C>T (p.His2088=) rs188278264 0.00002
NM_000260.4(MYO7A):c.72C>T (p.Ile24=) rs397516334 0.00002
NM_000335.5(SCN5A):c.2039G>A (p.Arg680His) rs199473142 0.00002
NM_000335.5(SCN5A):c.3408C>T (p.Ser1136=) rs553231555 0.00002
NM_000335.5(SCN5A):c.4209C>T (p.Asn1403=) rs397517954 0.00002
NM_000335.5(SCN5A):c.4695C>G (p.Leu1565=) rs727505094 0.00002
NM_000335.5(SCN5A):c.4857G>A (p.Thr1619=) rs753174463 0.00002
NM_000335.5(SCN5A):c.5061C>T (p.Ile1687=) rs145731678 0.00002
NM_000368.5(TSC1):c.1251A>G (p.Thr417=) rs147127442 0.00002
NM_000414.4(HSD17B4):c.58+195C>T rs574416522 0.00002
NM_000414.4(HSD17B4):c.714+12T>G rs762828103 0.00002
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940 0.00002
NM_000441.2(SLC26A4):c.2007C>T (p.Asp669=) rs749013429 0.00002
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240 0.00002
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile) rs727503048 0.00002
NM_000503.6(EYA1):c.966+8A>G rs190039495 0.00002
NM_000548.5(TSC2):c.1785G>A (p.Gln595=) rs150352976 0.00002
NM_000548.5(TSC2):c.5260-12C>T rs769264472 0.00002
NM_000601.6(HGF):c.1818T>C (p.Ile606=) rs762445545 0.00002
NM_001005242.3(PKP2):c.1674+15A>C rs749247141 0.00002
NM_001005242.3(PKP2):c.558C>T (p.Ala186=) rs184522105 0.00002
NM_001005242.3(PKP2):c.978A>G (p.Ala326=) rs775137004 0.00002
NM_001018116.2(CAVIN4):c.1005C>T (p.Pro335=) rs565406194 0.00002
NM_001031679.3(MSRB3):c.522C>T (p.Val174=) rs370488628 0.00002
NM_001035.3(RYR2):c.12957C>T (p.Val4319=) rs727504438 0.00002
NM_001035.3(RYR2):c.186C>T (p.Leu62=) rs754375280 0.00002
NM_001035.3(RYR2):c.3921G>A (p.Pro1307=) rs201469656 0.00002
NM_001035.3(RYR2):c.3978C>G (p.Gly1326=) rs745839967 0.00002
NM_001035.3(RYR2):c.4329G>A (p.Val1443=) rs397516531 0.00002
NM_001038603.3(MARVELD2):c.331G>A (p.Asp111Asn) rs397516553 0.00002
NM_001038603.3(MARVELD2):c.494A>G (p.His165Arg) rs727503157 0.00002
NM_001039141.3(TRIOBP):c.5544C>T (p.Tyr1848=) rs373713130 0.00002
NM_001039141.3(TRIOBP):c.6039C>G (p.Pro2013=) rs876657596 0.00002
NM_001039141.3(TRIOBP):c.6324+194A>G rs727503526 0.00002
NM_001039141.3(TRIOBP):c.6575+14G>A rs577534147 0.00002
NM_001039141.3(TRIOBP):c.96C>T (p.Ala32=) rs563986808 0.00002
NM_001039213.4(CEACAM16):c.517G>A (p.Val173Ile) rs756280582 0.00002
NM_001042545.2(LTBP4):c.1158G>A (p.Glu386=) rs1015435132 0.00002
NM_001103.4(ACTN2):c.1155C>T (p.Tyr385=) rs532155333 0.00002
NM_001103.4(ACTN2):c.2643C>T (p.Tyr881=) rs727505177 0.00002
NM_001103.4(ACTN2):c.762C>T (p.His254=) rs397516584 0.00002
NM_001105206.3(LAMA4):c.1988T>C (p.Ile663Thr) rs538726706 0.00002
NM_001105206.3(LAMA4):c.3357T>G (p.Pro1119=) rs782316528 0.00002
NM_001105206.3(LAMA4):c.3375G>A (p.Thr1125=) rs143728627 0.00002
NM_001105206.3(LAMA4):c.392C>T (p.Pro131Leu) rs374273620 0.00002
NM_001105206.3(LAMA4):c.465C>T (p.Cys155=) rs150354594 0.00002
NM_001122659.3(EDNRB):c.-47T>C rs201336064 0.00002
NM_001122659.3(EDNRB):c.1278T>C (p.Asn426=) rs747813758 0.00002
NM_001127453.2(GSDME):c.1197C>T (p.Ser399=) rs778523430 0.00002
NM_001127453.2(GSDME):c.405-12T>C rs202246404 0.00002
NM_001128840.3(CACNA1D):c.2172A>G (p.Ser724=) rs767446461 0.00002
NM_001128840.3(CACNA1D):c.3198T>C (p.Asp1066=) rs1265964727 0.00002
NM_001128840.3(CACNA1D):c.4668G>A (p.Thr1556=) rs954096785 0.00002
NM_001134363.3(RBM20):c.1209C>T (p.His403=) rs397516592 0.00002
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser) rs1479765434 0.00002
NM_001134363.3(RBM20):c.3603C>G (p.Gly1201=) rs397516617 0.00002
NM_001134363.3(RBM20):c.409C>T (p.Leu137=) rs876657570 0.00002
NM_001134363.3(RBM20):c.954A>G (p.Gln318=) rs766779254 0.00002
NM_001145809.2(MYH14):c.1251G>A (p.Thr417=) rs759132835 0.00002
NM_001145809.2(MYH14):c.5207G>A (p.Ser1736Asn) rs776401666 0.00002
NM_001145809.2(MYH14):c.5553G>A (p.Gln1851=) rs748686805 0.00002
NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=) rs779963634 0.00002
NM_001199107.2(TBC1D24):c.213C>T (p.Ala71=) rs778212970 0.00002
NM_001199107.2(TBC1D24):c.297G>A (p.Thr99=) rs767766165 0.00002
NM_001199799.2(ILDR1):c.1194G>A (p.Ser398=) rs139810461 0.00002
NM_001199799.2(ILDR1):c.483A>T (p.Val161=) rs369002219 0.00002
NM_001267550.2(TTN):c.100047A>C (p.Thr33349=) rs727504698 0.00002
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile) rs727503679 0.00002
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=) rs727504677 0.00002
NM_001267550.2(TTN):c.102711C>T (p.Cys34237=) rs568801205 0.00002
NM_001267550.2(TTN):c.105212C>G (p.Ser35071Cys) rs3813249 0.00002
NM_001267550.2(TTN):c.1208G>C (p.Ser403Thr) rs727505091 0.00002
NM_001267550.2(TTN):c.13282G>A (p.Glu4428Lys) rs528766978 0.00002
NM_001267550.2(TTN):c.13782G>A (p.Gln4594=) rs188071134 0.00002
NM_001267550.2(TTN):c.1851A>C (p.Thr617=) rs727504530 0.00002
NM_001267550.2(TTN):c.18609A>G (p.Arg6203=) rs777227340 0.00002
NM_001267550.2(TTN):c.19263C>T (p.Asp6421=) rs552531581 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.21980C>T (p.Thr7327Met) rs727504975 0.00002
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met) rs371496970 0.00002
NM_001267550.2(TTN):c.24609C>T (p.Ser8203=) rs397517509 0.00002
NM_001267550.2(TTN):c.25041T>C (p.Ser8347=) rs397517512 0.00002
NM_001267550.2(TTN):c.30588G>A (p.Val10196=) rs727504524 0.00002
NM_001267550.2(TTN):c.31533A>G (p.Glu10511=) rs757499228 0.00002
NM_001267550.2(TTN):c.3577G>A (p.Val1193Met) rs727503699 0.00002
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr) rs397517553 0.00002
NM_001267550.2(TTN):c.39504G>T (p.Val13168=) rs397517558 0.00002
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=) rs398124450 0.00002
NM_001267550.2(TTN):c.40335C>T (p.Leu13445=) rs727504696 0.00002
NM_001267550.2(TTN):c.42304G>A (p.Ala14102Thr) rs72650080 0.00002
NM_001267550.2(TTN):c.46580T>A (p.Met15527Lys) rs77496539 0.00002
NM_001267550.2(TTN):c.48432T>C (p.Asp16144=) rs776643336 0.00002
NM_001267550.2(TTN):c.49701A>G (p.Ser16567=) rs369646977 0.00002
NM_001267550.2(TTN):c.51118A>G (p.Ile17040Val) rs727505039 0.00002
NM_001267550.2(TTN):c.52557C>T (p.Val17519=) rs397517610 0.00002
NM_001267550.2(TTN):c.53592A>G (p.Thr17864=) rs397517613 0.00002
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=) rs727503693 0.00002
NM_001267550.2(TTN):c.54201C>T (p.Ser18067=) rs397517618 0.00002
NM_001267550.2(TTN):c.55278T>C (p.Val18426=) rs368013796 0.00002
NM_001267550.2(TTN):c.58150+10T>C rs397517635 0.00002
NM_001267550.2(TTN):c.58395A>G (p.Thr19465=) rs375134177 0.00002
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=) rs727505101 0.00002
NM_001267550.2(TTN):c.63187+8G>A rs727503584 0.00002
NM_001267550.2(TTN):c.63558G>A (p.Val21186=) rs200261892 0.00002
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=) rs397517657 0.00002
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) rs371514555 0.00002
NM_001267550.2(TTN):c.6508+15T>C rs747722195 0.00002
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=) rs746956869 0.00002
NM_001267550.2(TTN):c.66240A>C (p.Ala22080=) rs375181938 0.00002
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr) rs727505036 0.00002
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp) rs563233842 0.00002
NM_001267550.2(TTN):c.70686C>T (p.Ser23562=) rs371481540 0.00002
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser) rs727503564 0.00002
NM_001267550.2(TTN):c.73146T>A (p.Thr24382=) rs372092427 0.00002
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812 0.00002
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=) rs565784637 0.00002
NM_001267550.2(TTN):c.77799A>T (p.Thr25933=) rs727505210 0.00002
NM_001267550.2(TTN):c.80898T>C (p.Ser26966=) rs374042845 0.00002
NM_001267550.2(TTN):c.81297T>C (p.Asp27099=) rs727505134 0.00002
NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile) rs746222222 0.00002
NM_001267550.2(TTN):c.81858T>C (p.Val27286=) rs727503558 0.00002
NM_001267550.2(TTN):c.82551C>G (p.Thr27517=) rs373634657 0.00002
NM_001267550.2(TTN):c.87102T>A (p.Leu29034=) rs781200259 0.00002
NM_001267550.2(TTN):c.89368G>A (p.Val29790Ile) rs775906983 0.00002
NM_001267550.2(TTN):c.90405T>C (p.Asp30135=) rs371945826 0.00002
NM_001267550.2(TTN):c.91+14T>C rs397517777 0.00002
NM_001267550.2(TTN):c.91326A>G (p.Lys30442=) rs367777281 0.00002
NM_001267550.2(TTN):c.9306-4A>G rs757164431 0.00002
NM_001267550.2(TTN):c.95409C>T (p.Asn31803=) rs727505040 0.00002
NM_001276345.2(TNNT2):c.63T>G (p.Val21=) rs397516477 0.00002
NM_001330691.3(CEP78):c.120G>C (p.Glu40Asp) rs746861398 0.00002
NM_001363118.2(SLC52A2):c.1152C>T (p.Gly384=) rs782168938 0.00002
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_001369268.1(ACAN):c.4341G>C (p.Glu1447Asp) rs201505307 0.00002
NM_001378454.1(ALMS1):c.2059C>T (p.His687Tyr) rs771266951 0.00002
NM_001378454.1(ALMS1):c.6441A>G (p.Lys2147=) rs776254949 0.00002
NM_001378454.1(ALMS1):c.9324A>G (p.Ala3108=) rs747570402 0.00002
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=) rs574095166 0.00002
NM_001379180.1(ESRRB):c.492C>T (p.Asn164=) rs370878277 0.00002
NM_001384140.1(PCDH15):c.369A>G (p.Lys123=) rs1317246200 0.00002
NM_001384140.1(PCDH15):c.4672-1586T>C rs572152722 0.00002
NM_001384474.1(LOXHD1):c.1089C>T (p.Val363=) rs578169078 0.00002
NM_001384474.1(LOXHD1):c.1443G>A (p.Pro481=) rs184747932 0.00002
NM_001384474.1(LOXHD1):c.2316C>T (p.Ile772=) rs876657493 0.00002
NM_001384474.1(LOXHD1):c.3654C>T (p.Ser1218=) rs774278587 0.00002
NM_001384474.1(LOXHD1):c.4680C>T (p.Cys1560=) rs397517863 0.00002
NM_001384474.1(LOXHD1):c.5233G>A (p.Asp1745Asn) rs1020724757 0.00002
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=) rs374858340 0.00002
NM_001384474.1(LOXHD1):c.6378G>A (p.Lys2126=) rs876657498 0.00002
NM_001384474.1(LOXHD1):c.6405C>T (p.Phe2135=) rs916139061 0.00002
NM_001384474.1(LOXHD1):c.87G>A (p.Glu29=) rs1487954570 0.00002
NM_001614.5(ACTG1):c.1110C>A (p.Val370=) rs727502879 0.00002
NM_001614.5(ACTG1):c.51C>T (p.Cys17=) rs201570725 0.00002
NM_001614.5(ACTG1):c.945G>A (p.Lys315=) rs727502881 0.00002
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484 0.00002
NM_001943.5(DSG2):c.2100C>T (p.Ser700=) rs397516704 0.00002
NM_002230.4(JUP):c.351C>T (p.Ala117=) rs397517300 0.00002
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg) rs727504953 0.00002
NM_002458.3(MUC5B):c.14484A>G (p.Thr4828=) rs199583764 0.00002
NM_002458.3(MUC5B):c.2925G>A (p.Ala975=) rs551502589 0.00002
NM_002471.4(MYH6):c.2199T>C (p.Pro733=) rs727505290 0.00002
NM_002471.4(MYH6):c.4470C>T (p.Tyr1490=) rs727504964 0.00002
NM_002471.4(MYH6):c.5136C>T (p.Ser1712=) rs397516774 0.00002
NM_002471.4(MYH6):c.5439G>A (p.Gln1813=) rs200854143 0.00002
NM_002473.6(MYH9):c.1722C>T (p.Ala574=) rs373381680 0.00002
NM_002473.6(MYH9):c.2316G>A (p.Glu772=) rs727503290 0.00002
NM_002473.6(MYH9):c.3291C>A (p.Ala1097=) rs727503287 0.00002
NM_002473.6(MYH9):c.5853G>A (p.Ala1951=) rs746116612 0.00002
NM_002473.6(MYH9):c.705+9C>T rs397516781 0.00002
NM_002474.3(MYH11):c.3480C>T (p.Asp1160=) rs771004572 0.00002
NM_002834.5(PTPN11):c.1551G>A (p.Ala517=) rs727504377 0.00002
NM_002880.4(RAF1):c.639T>C (p.Thr213=) rs397516823 0.00002
NM_002906.4(RDX):c.1548C>T (p.Thr516=) rs764664139 0.00002
NM_003476.5(CSRP3):c.252G>A (p.Thr84=) rs755614464 0.00002
NM_003803.4(MYOM1):c.3190C>T (p.His1064Tyr) rs755409090 0.00002
NM_003803.4(MYOM1):c.3308G>A (p.Arg1103Gln) rs186972208 0.00002
NM_003803.4(MYOM1):c.93G>A (p.Arg31=) rs876657536 0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004100.5(EYA4):c.805-12T>C rs375862613 0.00002
NM_004281.4(BAG3):c.705G>A (p.Ala235=) rs141328836 0.00002
NM_004333.6(BRAF):c.*7T>C rs727502903 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.8394T>A (p.Thr2798=) rs775346694 0.00002
NM_004568.6(SERPINB6):c.147C>T (p.Thr49=) rs763576990 0.00002
NM_004985.5(KRAS):c.451-5604T>A rs397517476 0.00002
NM_004999.4(MYO6):c.27G>A (p.Ala9=) rs767670766 0.00002
NM_005159.5(ACTC1):c.294G>A (p.Val98=) rs397517058 0.00002
NM_005159.5(ACTC1):c.903A>G (p.Leu301=) rs138347995 0.00002
NM_005188.4(CBL):c.1927C>T (p.Leu643=) rs139939244 0.00002
NM_005188.4(CBL):c.801C>G (p.Gly267=) rs727502913 0.00002
NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=) rs770304914 0.00002
NM_005219.5(DIAPH1):c.783G>A (p.Lys261=) rs727502962 0.00002
NM_005228.5(EGFR):c.2280C>T (p.Leu760=) rs397517103 0.00002
NM_005228.5(EGFR):c.2592G>A (p.Ala864=) rs397517131 0.00002
NM_005343.4(HRAS):c.358C>T (p.Leu120=) rs397517139 0.00002
NM_005343.4(HRAS):c.45C>T (p.Gly15=) rs727504614 0.00002
NM_005379.4(MYO1A):c.2141G>A (p.Arg714His) rs369452147 0.00002
NM_005379.4(MYO1A):c.2499G>T (p.Arg833=) rs727504563 0.00002
NM_005422.4(TECTA):c.2322C>T (p.Ala774=) rs200749722 0.00002
NM_005422.4(TECTA):c.585C>T (p.Gly195=) rs372185673 0.00002
NM_005548.3(KARS1):c.1742A>C (p.Asn581Thr) rs117561624 0.00002
NM_005633.4(SOS1):c.87+12G>T rs368569135 0.00002
NM_005982.4(SIX1):c.114C>T (p.Pro38=) rs752537825 0.00002
NM_006005.3(WFS1):c.1290G>A (p.Ser430=) rs752100338 0.00002
NM_006005.3(WFS1):c.1935G>T (p.Leu645=) rs727504912 0.00002
NM_006012.4(CLPP):c.15A>G (p.Ile5Met) rs763687804 0.00002
NM_006012.4(CLPP):c.42A>C (p.Ser14=) rs935069392 0.00002
NM_006941.4(SOX10):c.717C>G (p.Pro239=) rs766963456 0.00002
NM_007373.4(SHOC2):c.-125C>T rs188765124 0.00002
NM_013296.5(GPSM2):c.1440+15A>G rs199640162 0.00002
NM_013296.5(GPSM2):c.765T>G (p.Leu255=) rs778913696 0.00002
NM_014000.3(VCL):c.390+11T>G rs764668318 0.00002
NM_014000.3(VCL):c.808T>C (p.Leu270=) rs727505339 0.00002
NM_015404.4(WHRN):c.1360G>A (p.Val454Ile) rs370178817 0.00002
NM_016203.4(PRKAG2):c.114G>A (p.Pro38=) rs397517261 0.00002
NM_016239.4(MYO15A):c.10457C>T (p.Ala3486Val) rs876657525 0.00002
NM_016239.4(MYO15A):c.3585C>T (p.Val1195=) rs1398856621 0.00002
NM_016239.4(MYO15A):c.5742T>C (p.Arg1914=) rs778007903 0.00002
NM_016239.4(MYO15A):c.6657G>A (p.Lys2219=) rs727504708 0.00002
NM_016239.4(MYO15A):c.675G>C (p.Gly225=) rs763522649 0.00002
NM_016599.5(MYOZ2):c.504T>C (p.Pro168=) rs769668877 0.00002
NM_016616.5(NME8):c.401C>T (p.Pro134Leu) rs369201077 0.00002
NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu) rs147534616 0.00002
NM_020297.4(ABCC9):c.4470A>G (p.Val1490=) rs727505001 0.00002
NM_020297.4(ABCC9):c.918G>A (p.Leu306=) rs142115849 0.00002
NM_020458.4(TTC7A):c.1701C>T (p.His567=) rs375117959 0.00002
NM_022114.4(PRDM16):c.1116G>A (p.Gly372=) rs757093442 0.00002
NM_022124.6(CDH23):c.1080G>T (p.Leu360=) rs570997401 0.00002
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) rs397517307 0.00002
NM_022124.6(CDH23):c.2067G>A (p.Thr689=) rs876657437 0.00002
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663 0.00002
NM_022124.6(CDH23):c.4953C>T (p.Asn1651=) rs397517332 0.00002
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334 0.00002
NM_022124.6(CDH23):c.5214C>T (p.Asn1738=) rs767794239 0.00002
NM_022124.6(CDH23):c.8040C>T (p.Asp2680=) rs1379358750 0.00002
NM_022124.6(CDH23):c.9511-12C>T rs397517366 0.00002
NM_022124.6(CDH23):c.9858C>T (p.His3286=) rs761835004 0.00002
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599 0.00002
NM_030662.4(MAP2K2):c.450+13G>A rs572847821 0.00002
NM_030662.4(MAP2K2):c.450+14G>A rs397517414 0.00002
NM_030662.4(MAP2K2):c.474G>A (p.Val158=) rs370736371 0.00002
NM_032119.4(ADGRV1):c.13336G>A (p.Gly4446Arg) rs542716344 0.00002
NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile) rs768299251 0.00002
NM_032119.4(ADGRV1):c.16258C>A (p.Gln5420Lys) rs876657472 0.00002
NM_032119.4(ADGRV1):c.21A>C (p.Pro7=) rs727504831 0.00002
NM_032119.4(ADGRV1):c.3179C>T (p.Thr1060Met) rs768978840 0.00002
NM_032119.4(ADGRV1):c.3816G>A (p.Leu1272=) rs202004141 0.00002
NM_032119.4(ADGRV1):c.4965T>C (p.Pro1655=) rs755711674 0.00002
NM_032119.4(ADGRV1):c.705A>G (p.Gln235=) rs372853480 0.00002
NM_032119.4(ADGRV1):c.9642C>T (p.Ile3214=) rs778864521 0.00002
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461 0.00002
NM_033118.4(MYLK2):c.1284C>T (p.Gly428=) rs727503305 0.00002
NM_033118.4(MYLK2):c.1683G>A (p.Lys561=) rs756719732 0.00002
NM_080680.3(COL11A2):c.1968C>T (p.Thr656=) rs766534015 0.00002
NM_080680.3(COL11A2):c.3529-3C>T rs753183777 0.00002
NM_080680.3(COL11A2):c.4751-9A>G rs555680585 0.00002
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=) rs752823488 0.00002
NM_133379.5(TTN):c.13374T>C (p.His4458=) rs397517809 0.00002
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser) rs397517834 0.00002
NM_138691.3(TMC1):c.2178G>A (p.Ala726=) rs555517698 0.00002
NM_138691.3(TMC1):c.342G>A (p.Glu114=) rs370554600 0.00002
NM_138691.3(TMC1):c.777T>C (p.Tyr259=) rs727503482 0.00002
NM_144573.4(NEXN):c.1368A>C (p.Gly456=) rs397517845 0.00002
NM_144672.4(OTOA):c.987G>A (p.Gly329=) rs758229970 0.00002
NM_144991.3(TSPEAR):c.942C>T (p.Tyr314=) rs146600721 0.00002
NM_147196.3(TMIE):c.361+11C>T rs368701214 0.00002
NM_153676.4(USH1C):c.2418C>T (p.Asn806=) rs397517876 0.00002
NM_153676.4(USH1C):c.497-4G>A rs397517881 0.00002
NM_153676.4(USH1C):c.760-4C>T rs374167444 0.00002
NM_153700.2(STRC):c.3100-10C>T rs727503450 0.00002
NM_153700.2(STRC):c.678A>T (p.Thr226=) rs727503452 0.00002
NM_170707.4(LMNA):c.1185G>A (p.Ser395=) rs397517890 0.00002
NM_173477.5(USH1G):c.1152C>T (p.Asp384=) rs569032124 0.00002
NM_173477.5(USH1G):c.678C>A (p.Gly226=) rs201525855 0.00002
NM_178335.3(CCDC50):c.1003G>A (p.Ala335Thr) rs727502917 0.00002
NM_181458.4(PAX3):c.534G>A (p.Glu178=) rs569880951 0.00002
NM_194248.3(OTOF):c.1335C>T (p.Ile445=) rs749521853 0.00002
NM_194248.3(OTOF):c.2010C>T (p.Asn670=) rs374029967 0.00002
NM_194248.3(OTOF):c.5202G>A (p.Leu1734=) rs770579181 0.00002
NM_194248.3(OTOF):c.531C>T (p.Ser177=) rs765620419 0.00002
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=) rs760725818 0.00002
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met) rs397517966 0.00002
NM_206933.4(USH2A):c.14100C>T (p.Ser4700=) rs778162193 0.00002
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=) rs111033532 0.00002
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=) rs727505165 0.00002
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=) rs181961185 0.00002
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000081.4(LYST):c.7761A>G (p.Gln2587=) rs139917441 0.00001
NM_000116.5(TAFAZZIN):c.109+28C>T rs397515736 0.00001
NM_000117.3(EMD):c.57C>T (p.Tyr19=) rs371661299 0.00001
NM_000117.3(EMD):c.711C>T (p.Ile237=) rs727503037 0.00001
NM_000138.5(FBN1):c.4233C>T (p.Asn1411=) rs183198761 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=) rs397515813 0.00001
NM_000138.5(FBN1):c.5856G>A (p.Gly1952=) rs763490270 0.00001
NM_000138.5(FBN1):c.7071C>T (p.Pro2357=) rs397515843 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000169.3(GLA):c.801+14C>T rs200744672 0.00001
NM_000218.3(KCNQ1):c.1047G>A (p.Ser349=) rs199630316 0.00001
NM_000218.3(KCNQ1):c.1173C>T (p.Thr391=) rs770808054 0.00001
NM_000218.3(KCNQ1):c.1795-5C>T rs727503104 0.00001
NM_000218.3(KCNQ1):c.192T>C (p.Pro64=) rs1360376744 0.00001
NM_000218.3(KCNQ1):c.604+12C>T rs370821907 0.00001
NM_000249.4(MLH1):c.2034A>G (p.Lys678=) rs894876691 0.00001
NM_000256.3(MYBPC3):c.1024G>A (p.Val342Ile) rs397515882 0.00001
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247 0.00001
NM_000256.3(MYBPC3):c.1624+14G>C rs397515914 0.00001
NM_000256.3(MYBPC3):c.166G>A (p.Gly56Ser) rs397515918 0.00001
NM_000256.3(MYBPC3):c.1803G>A (p.Leu601=) rs397515927 0.00001
NM_000256.3(MYBPC3):c.1935C>T (p.Pro645=) rs727503193 0.00001
NM_000256.3(MYBPC3):c.1944C>T (p.His648=) rs750861887 0.00001
NM_000256.3(MYBPC3):c.206G>A (p.Arg69Gln) rs397515945 0.00001
NM_000256.3(MYBPC3):c.216C>A (p.Gly72=) rs760007714 0.00001
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=) rs397515957 0.00001
NM_000256.3(MYBPC3):c.2544G>A (p.Ala848=) rs369904619 0.00001
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215 0.00001
NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr) rs727504945 0.00001
NM_000256.3(MYBPC3):c.2906-7C>T rs876657512 0.00001
NM_000256.3(MYBPC3):c.3048C>T (p.Gly1016=) rs397515998 0.00001
NM_000256.3(MYBPC3):c.3171G>A (p.Thr1057=) rs397516004 0.00001
NM_000256.3(MYBPC3):c.3477T>C (p.Phe1159=) rs876657513 0.00001
NM_000256.3(MYBPC3):c.3705G>A (p.Val1235=) rs397516036 0.00001
NM_000256.3(MYBPC3):c.3814+14G>A rs727504656 0.00001
NM_000257.4(MYH7):c.1083C>T (p.Asn361=) rs145091844 0.00001
NM_000257.4(MYH7):c.1888+13T>G rs727504516 0.00001
NM_000257.4(MYH7):c.1926G>A (p.Ser642=) rs397516126 0.00001
NM_000257.4(MYH7):c.2229G>A (p.Glu743=) rs397516139 0.00001
NM_000257.4(MYH7):c.2352C>T (p.Ile784=) rs397516143 0.00001
NM_000257.4(MYH7):c.2472C>T (p.Val824=) rs397516150 0.00001
NM_000257.4(MYH7):c.2499C>T (p.Tyr833=) rs397516151 0.00001
NM_000257.4(MYH7):c.2979C>T (p.Thr993=) rs397516176 0.00001
NM_000257.4(MYH7):c.4227C>G (p.Ala1409=) rs148788346 0.00001
NM_000257.4(MYH7):c.4326G>A (p.Leu1442=) rs727503243 0.00001
NM_000257.4(MYH7):c.4671G>A (p.Lys1557=) rs200601164 0.00001
NM_000257.4(MYH7):c.4725G>A (p.Lys1575=) rs45476496 0.00001
NM_000257.4(MYH7):c.4803G>A (p.Leu1601=) rs397516228 0.00001
NM_000257.4(MYH7):c.4911C>T (p.Ala1637=) rs151113658 0.00001
NM_000257.4(MYH7):c.5019C>T (p.Ile1673=) rs139518691 0.00001
NM_000257.4(MYH7):c.5703C>T (p.His1901=) rs45570635 0.00001
NM_000257.4(MYH7):c.5787G>A (p.Thr1929=) rs397516257 0.00001
NM_000260.4(MYO7A):c.1455G>A (p.Leu485=) rs375528761 0.00001
NM_000260.4(MYO7A):c.1555-15C>T rs782573211 0.00001
NM_000260.4(MYO7A):c.1797+8G>A rs781801358 0.00001
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=) rs367693437 0.00001
NM_000260.4(MYO7A):c.2094+8G>A rs781886473 0.00001
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00001
NM_000260.4(MYO7A):c.2382C>T (p.Phe794=) rs970183279 0.00001
NM_000260.4(MYO7A):c.285+14C>G rs876657532 0.00001
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) rs397516297 0.00001
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) rs77299211 0.00001
NM_000260.4(MYO7A):c.4153-10C>G rs397516306 0.00001
NM_000260.4(MYO7A):c.4153-11C>T rs727503330 0.00001
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309 0.00001
NM_000260.4(MYO7A):c.4695G>A (p.Thr1565=) rs397516313 0.00001
NM_000260.4(MYO7A):c.4800G>T (p.Gly1600=) rs397516314 0.00001
NM_000260.4(MYO7A):c.5481-15C>T rs727504955 0.00001
NM_000260.4(MYO7A):c.6339C>A (p.Ala2113=) rs764862807 0.00001
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=) rs397516329 0.00001
NM_000307.5(POU3F4):c.285T>C (p.His95=) rs1163443982 0.00001
NM_000335.5(SCN5A):c.1538G>A (p.Arg513His) rs397517951 0.00001
NM_000335.5(SCN5A):c.1659G>A (p.Glu553=) rs727503409 0.00001
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) rs751050999 0.00001
NM_000335.5(SCN5A):c.2313C>T (p.Leu771=) rs876657580 0.00001
NM_000335.5(SCN5A):c.3258G>A (p.Glu1086=) rs727504924 0.00001
NM_000335.5(SCN5A):c.369G>A (p.Ala123=) rs727504886 0.00001
NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=) rs397517957 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000335.5(SCN5A):c.72C>T (p.Ile24=) rs727503412 0.00001
NM_000337.6(SGCD):c.45T>A (p.Pro15=) rs727505092 0.00001
NM_000363.5(TNNI3):c.258C>T (p.Ala86=) rs727503508 0.00001
NM_000363.5(TNNI3):c.336C>T (p.Tyr112=) rs559450042 0.00001
NM_000363.5(TNNI3):c.384G>A (p.Leu128=) rs373130533 0.00001
NM_000371.4(TTR):c.337-13T>C rs762691667 0.00001
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328 0.00001
NM_000414.4(HSD17B4):c.1875C>G (p.Thr625=) rs745478996 0.00001
NM_000414.4(HSD17B4):c.56C>G (p.Ala19Gly) rs148363262 0.00001
NM_000414.4(HSD17B4):c.622+14C>T rs765736425 0.00001
NM_000432.4(MYL2):c.447C>T (p.Asn149=) rs397516405 0.00001
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993 0.00001
NM_000441.2(SLC26A4):c.1299C>T (p.Ile433=) rs397516415 0.00001
NM_000441.2(SLC26A4):c.1342-10C>T rs727503426 0.00001
NM_000441.2(SLC26A4):c.1608C>T (p.Tyr536=) rs181882513 0.00001
NM_000441.2(SLC26A4):c.1871T>C (p.Leu624Pro) rs1345776426 0.00001
NM_000441.2(SLC26A4):c.2320-4A>C rs727503432 0.00001
NM_000441.2(SLC26A4):c.297G>A (p.Thr99=) rs397516429 0.00001
NM_000441.2(SLC26A4):c.948A>C (p.Gly316=) rs876657583 0.00001
NM_000501.4(ELN):c.1233C>T (p.Val411=) rs202052596 0.00001
NM_000503.6(EYA1):c.1464C>T (p.Leu488=) rs770264648 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_000899.5(KITLG):c.255G>C (p.Leu85=) rs767292529 0.00001
NM_000899.5(KITLG):c.708C>T (p.Tyr236=) rs200147285 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001005242.3(PKP2):c.559G>A (p.Ala187Thr) rs200095747 0.00001
NM_001018005.2(TPM1):c.241-9T>C rs377417143 0.00001
NM_001018005.2(TPM1):c.252C>T (p.Asp84=) rs369617788 0.00001
NM_001018005.2(TPM1):c.444G>C (p.Leu148=) rs376518788 0.00001
NM_001018005.2(TPM1):c.684T>C (p.Leu228=) rs397516384 0.00001
NM_001018005.2(TPM1):c.768A>G (p.Leu256=) rs139650306 0.00001
NM_001018005.2(TPM1):c.837C>T (p.Asn279=) rs397516393 0.00001
NM_001032283.3(TMPO):c.565+1907A>G rs372248802 0.00001
NM_001035.3(RYR2):c.10047G>A (p.Ser3349=) rs144428932 0.00001
NM_001035.3(RYR2):c.1077A>G (p.Ser359=) rs727505317 0.00001
NM_001035.3(RYR2):c.11039+13G>T rs727504882 0.00001
NM_001035.3(RYR2):c.11326-4A>G rs727504876 0.00001
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152 0.00001
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512 0.00001
NM_001035.3(RYR2):c.14415A>G (p.Lys4805=) rs397516515 0.00001
NM_001035.3(RYR2):c.2562A>G (p.Thr854=) rs727503398 0.00001
NM_001035.3(RYR2):c.2719-4T>A rs397516523 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001035.3(RYR2):c.3735G>A (p.Arg1245=) rs190884873 0.00001
NM_001035.3(RYR2):c.4209A>G (p.Ala1403=) rs727505126 0.00001
NM_001035.3(RYR2):c.5136C>T (p.Ser1712=) rs397516540 0.00001
NM_001035.3(RYR2):c.7359A>G (p.Glu2453=) rs779456443 0.00001
NM_001035.3(RYR2):c.8714+13A>G rs876657579 0.00001
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=) rs762521873 0.00001
NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met) rs727503158 0.00001
NM_001038603.3(MARVELD2):c.1095A>G (p.Leu365=) rs727503159 0.00001
NM_001038603.3(MARVELD2):c.1479G>A (p.Leu493=) rs752765358 0.00001
NM_001038603.3(MARVELD2):c.771C>T (p.Leu257=) rs571015098 0.00001
NM_001039141.3(TRIOBP):c.273A>G (p.Ala91=) rs876657592 0.00001
NM_001039141.3(TRIOBP):c.4135C>T (p.Pro1379Ser) rs727505118 0.00001
NM_001039141.3(TRIOBP):c.4429T>C (p.Trp1477Arg) rs756650521 0.00001
NM_001039141.3(TRIOBP):c.4548T>C (p.Pro1516=) rs770934306 0.00001
NM_001039141.3(TRIOBP):c.4773C>T (p.Ala1591=) rs876657594 0.00001
NM_001039141.3(TRIOBP):c.5247A>G (p.Ser1749=) rs1172498750 0.00001
NM_001039141.3(TRIOBP):c.5349A>T (p.Gly1783=) rs201691906 0.00001
NM_001039141.3(TRIOBP):c.5393C>T (p.Ser1798Leu) rs876657595 0.00001
NM_001039141.3(TRIOBP):c.5488-14C>T rs748722151 0.00001
NM_001039141.3(TRIOBP):c.6184A>G (p.Ser2062Gly) rs727503525 0.00001
NM_001039141.3(TRIOBP):c.6324+233C>G rs757097829 0.00001
NM_001039141.3(TRIOBP):c.6986G>A (p.Ser2329Asn) rs876657597 0.00001
NM_001039213.4(CEACAM16):c.359G>C (p.Gly120Ala) rs979461820 0.00001
NM_001042492.3(NF1):c.2061A>G (p.Leu687=) rs143671377 0.00001
NM_001042492.3(NF1):c.2619T>C (p.Arg873=) rs766212733 0.00001
NM_001042492.3(NF1):c.3732T>A (p.Val1244=) rs756653022 0.00001
NM_001042492.3(NF1):c.4944C>T (p.Thr1648=) rs759291615 0.00001
NM_001042492.3(NF1):c.5229T>C (p.Ala1743=) rs876657546 0.00001
NM_001042545.2(LTBP4):c.2989G>A (p.Val997Met) rs748078658 0.00001
NM_001042545.2(LTBP4):c.3258C>T (p.Pro1086=) rs727503155 0.00001
NM_001042702.5(PJVK):c.102A>T (p.Leu34=) rs1376281701 0.00001
NM_001042702.5(PJVK):c.407+15C>G rs727502959 0.00001
NM_001042702.5(PJVK):c.669C>T (p.Asp223=) rs774085388 0.00001
NM_001042702.5(PJVK):c.841C>T (p.Pro281Ser) rs377275979 0.00001
NM_001079668.3(NKX2-1):c.201G>C (p.Pro67=) rs747491554 0.00001
NM_001079866.2(BCS1L):c.810G>A (p.Leu270=) rs371242452 0.00001
NM_001080476.3(GRXCR1):c.75T>C (p.Ser25=) rs876657475 0.00001
NM_001080476.3(GRXCR1):c.813C>A (p.Ala271=) rs727503090 0.00001
NM_001103.4(ACTN2):c.1089C>T (p.Ser363=) rs397516562 0.00001
NM_001103.4(ACTN2):c.1305A>G (p.Thr435=) rs12043223 0.00001
NM_001103.4(ACTN2):c.1338G>A (p.Ala446=) rs397516566 0.00001
NM_001103.4(ACTN2):c.1422C>T (p.His474=) rs1282303942 0.00001
NM_001103.4(ACTN2):c.2484C>T (p.Ala828=) rs397516576 0.00001
NM_001103.4(ACTN2):c.753C>T (p.Cys251=) rs397516583 0.00001
NM_001105206.3(LAMA4):c.1209C>T (p.Leu403=) rs397516715 0.00001
NM_001105206.3(LAMA4):c.2577G>A (p.Thr859=) rs397516724 0.00001
NM_001105206.3(LAMA4):c.267C>T (p.Asn89=) rs727503114 0.00001
NM_001105206.3(LAMA4):c.3003C>T (p.Gly1001=) rs397516728 0.00001
NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn) rs781919095 0.00001
NM_001105206.3(LAMA4):c.486T>C (p.Ala162=) rs397516734 0.00001
NM_001105206.3(LAMA4):c.5241G>A (p.Val1747=) rs375447272 0.00001
NM_001105206.3(LAMA4):c.90C>T (p.Asn30=) rs542554847 0.00001
NM_001122659.3(EDNRB):c.1194+15C>T rs886050325 0.00001
NM_001122659.3(EDNRB):c.186G>A (p.Leu62=) rs62637639 0.00001
NM_001127453.2(GSDME):c.1218T>C (p.Thr406=) rs727505338 0.00001
NM_001127453.2(GSDME):c.826T>C (p.Ser276Pro) rs727502954 0.00001
NM_001127453.2(GSDME):c.969A>G (p.Leu323=) rs397516911 0.00001
NM_001128228.3(TPRN):c.1944T>G (p.Ser648=) rs757430065 0.00001
NM_001128228.3(TPRN):c.1996G>A (p.Val666Met) rs876657591 0.00001
NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu) rs727503520 0.00001
NM_001128840.3(CACNA1D):c.2661C>T (p.Ile887=) rs1457329674 0.00001
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu) rs770886605 0.00001
NM_001128840.3(CACNA1D):c.6193-4A>G rs756630418 0.00001
NM_001128840.3(CACNA1D):c.6204C>T (p.Ser2068=) rs777264885 0.00001
NM_001128840.3(CACNA1D):c.6414C>T (p.Ser2138=) rs748761511 0.00001
NM_001128840.3(CACNA1D):c.649T>C (p.Leu217=) rs1263485007 0.00001
NM_001134363.3(RBM20):c.1080A>T (p.Thr360=) rs397516591 0.00001
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln) rs563500712 0.00001
NM_001134363.3(RBM20):c.1761C>T (p.Leu587=) rs727504820 0.00001
NM_001134363.3(RBM20):c.1812G>A (p.Lys604=) rs751318089 0.00001
NM_001134363.3(RBM20):c.2070G>A (p.Pro690=) rs890520365 0.00001
NM_001134363.3(RBM20):c.313C>T (p.Leu105=) rs397516611 0.00001
NM_001134363.3(RBM20):c.3183A>G (p.Pro1061=) rs397516612 0.00001
NM_001134363.3(RBM20):c.3366G>A (p.Glu1122=) rs397516613 0.00001
NM_001134363.3(RBM20):c.3372T>C (p.Thr1124=) rs397516614 0.00001
NM_001134363.3(RBM20):c.600T>G (p.Thr200=) rs876657571 0.00001
NM_001145809.2(MYH14):c.1995G>A (p.Ser665=) rs876657514 0.00001
NM_001145809.2(MYH14):c.2145C>T (p.Tyr715=) rs774452001 0.00001
NM_001145809.2(MYH14):c.2733G>A (p.Val911=) rs1330663203 0.00001
NM_001145809.2(MYH14):c.4138-4A>G rs373533012 0.00001
NM_001145809.2(MYH14):c.534C>T (p.Thr178=) rs727503221 0.00001
NM_001146079.2(CLDN14):c.495C>T (p.Tyr165=) rs373672296 0.00001
NM_001199107.2(TBC1D24):c.1545G>A (p.Ala515=) rs747350771 0.00001
NM_001199107.2(TBC1D24):c.27C>T (p.Phe9=) rs759193465 0.00001
NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=) rs369318229 0.00001
NM_001199799.2(ILDR1):c.1600-13T>C rs567262350 0.00001
NM_001199799.2(ILDR1):c.25C>T (p.Pro9Ser) rs1217446345 0.00001
NM_001232.4(CASQ2):c.1026C>T (p.Val342=) rs774882087 0.00001
NM_001232.4(CASQ2):c.333A>G (p.Glu111=) rs727502910 0.00001
NM_001243133.2(NLRP3):c.2811C>T (p.Pro937=) rs545121784 0.00001
NM_001267550.2(TTN):c.100653C>A (p.Gly33551=) rs727505326 0.00001
NM_001267550.2(TTN):c.103632G>A (p.Glu34544=) rs1285886003 0.00001
NM_001267550.2(TTN):c.104126G>A (p.Arg34709His) rs574420969 0.00001
NM_001267550.2(TTN):c.105531G>A (p.Val35177=) rs727505323 0.00001
NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg) rs727504465 0.00001
NM_001267550.2(TTN):c.11502G>A (p.Gly3834=) rs777420658 0.00001
NM_001267550.2(TTN):c.11991T>C (p.Ile3997=) rs565546452 0.00001
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=) rs373963067 0.00001
NM_001267550.2(TTN):c.18456T>C (p.His6152=) rs756540833 0.00001
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=) rs727504776 0.00001
NM_001267550.2(TTN):c.2082C>T (p.Asp694=) rs534874686 0.00001
NM_001267550.2(TTN):c.20892G>A (p.Thr6964=) rs727504623 0.00001
NM_001267550.2(TTN):c.21279A>G (p.Thr7093=) rs727504765 0.00001
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr) rs370728359 0.00001
NM_001267550.2(TTN):c.22569T>C (p.Ser7523=) rs761651834 0.00001
NM_001267550.2(TTN):c.22842A>G (p.Leu7614=) rs727504963 0.00001
NM_001267550.2(TTN):c.23178G>A (p.Ser7726=) rs753546095 0.00001
NM_001267550.2(TTN):c.24546T>A (p.Val8182=) rs397517508 0.00001
NM_001267550.2(TTN):c.26067C>T (p.Tyr8689=) rs377125716 0.00001
NM_001267550.2(TTN):c.2649C>T (p.Phe883=) rs775588479 0.00001
NM_001267550.2(TTN):c.26916C>T (p.Tyr8972=) rs762329439 0.00001
NM_001267550.2(TTN):c.27618T>C (p.Tyr9206=) rs1457644440 0.00001
NM_001267550.2(TTN):c.27711C>T (p.Ser9237=) rs727504749 0.00001
NM_001267550.2(TTN):c.2807T>C (p.Val936Ala) rs139567470 0.00001
NM_001267550.2(TTN):c.28425G>T (p.Val9475=) rs727503642 0.00001
NM_001267550.2(TTN):c.28509A>G (p.Val9503=) rs756229382 0.00001
NM_001267550.2(TTN):c.28653G>C (p.Leu9551=) rs876657601 0.00001
NM_001267550.2(TTN):c.28710T>C (p.Asn9570=) rs727504991 0.00001
NM_001267550.2(TTN):c.29815G>C (p.Glu9939Gln) rs727503638 0.00001
NM_001267550.2(TTN):c.30022A>G (p.Met10008Val) rs1553877757 0.00001
NM_001267550.2(TTN):c.31426+11T>C rs901251232 0.00001
NM_001267550.2(TTN):c.31791T>G (p.Pro10597=) rs397517539 0.00001
NM_001267550.2(TTN):c.3201T>C (p.Thr1067=) rs876657603 0.00001
NM_001267550.2(TTN):c.33762A>G (p.Lys11254=) rs749466171 0.00001
NM_001267550.2(TTN):c.34038T>G (p.Pro11346=) rs375714279 0.00001
NM_001267550.2(TTN):c.34734A>G (p.Val11578=) rs866407525 0.00001
NM_001267550.2(TTN):c.39296-4A>G rs368641171 0.00001
NM_001267550.2(TTN):c.39300C>T (p.Phe13100=) rs569579388 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001267550.2(TTN):c.41490C>T (p.Val13830=) rs397517564 0.00001
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val) rs545806408 0.00001
NM_001267550.2(TTN):c.4452T>C (p.Pro1484=) rs727503695 0.00001
NM_001267550.2(TTN):c.45003C>T (p.Asn15001=) rs727505079 0.00001
NM_001267550.2(TTN):c.45895+10T>A rs373140286 0.00001
NM_001267550.2(TTN):c.47380G>A (p.Val15794Ile) rs727504878 0.00001
NM_001267550.2(TTN):c.49532+8C>T rs397517597 0.00001
NM_001267550.2(TTN):c.50076C>T (p.Asp16692=) rs397517598 0.00001
NM_001267550.2(TTN):c.50244C>T (p.Thr16748=) rs778337707 0.00001
NM_001267550.2(TTN):c.50769A>G (p.Glu16923=) rs373524326 0.00001
NM_001267550.2(TTN):c.52098G>A (p.Val17366=) rs727503617 0.00001
NM_001267550.2(TTN):c.53002+9C>T rs374671774 0.00001
NM_001267550.2(TTN):c.53625A>G (p.Thr17875=) rs373277508 0.00001
NM_001267550.2(TTN):c.54324T>C (p.Ser18108=) rs397517619 0.00001
NM_001267550.2(TTN):c.57933T>C (p.Asp19311=) rs554555894 0.00001
NM_001267550.2(TTN):c.58074T>C (p.Arg19358=) rs397517632 0.00001
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=) rs727504980 0.00001
NM_001267550.2(TTN):c.59685C>T (p.Tyr19895=) rs397517644 0.00001
NM_001267550.2(TTN):c.60816G>A (p.Pro20272=) rs727504529 0.00001
NM_001267550.2(TTN):c.61224G>A (p.Val20408=) rs566188777 0.00001
NM_001267550.2(TTN):c.63114C>A (p.Val21038=) rs201642579 0.00001
NM_001267550.2(TTN):c.63921G>A (p.Glu21307=) rs1466883677 0.00001
NM_001267550.2(TTN):c.63981A>G (p.Val21327=) rs397517656 0.00001
NM_001267550.2(TTN):c.64719C>T (p.Asp21573=) rs727504967 0.00001
NM_001267550.2(TTN):c.65275+13G>T rs727504999 0.00001
NM_001267550.2(TTN):c.65871G>A (p.Pro21957=) rs771651842 0.00001
NM_001267550.2(TTN):c.66441C>T (p.Ala22147=) rs727503578 0.00001
NM_001267550.2(TTN):c.66450T>G (p.Ala22150=) rs727504643 0.00001
NM_001267550.2(TTN):c.66996T>C (p.Tyr22332=) rs397517668 0.00001
NM_001267550.2(TTN):c.67681T>C (p.Leu22561=) rs397517671 0.00001
NM_001267550.2(TTN):c.6790+13G>A rs758773000 0.00001
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=) rs397517673 0.00001
NM_001267550.2(TTN):c.68196G>A (p.Ser22732=) rs397517674 0.00001
NM_001267550.2(TTN):c.68712T>C (p.Thr22904=) rs397517678 0.00001
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=) rs374509926 0.00001
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=) rs368530092 0.00001
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=) rs189187431 0.00001
NM_001267550.2(TTN):c.76200T>C (p.Cys25400=) rs397517705 0.00001
NM_001267550.2(TTN):c.79122A>G (p.Glu26374=) rs727504497 0.00001
NM_001267550.2(TTN):c.79518T>C (p.Leu26506=) rs367608273 0.00001
NM_001267550.2(TTN):c.8292G>A (p.Leu2764=) rs727503687 0.00001
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=) rs773001228 0.00001
NM_001267550.2(TTN):c.86139C>T (p.Ser28713=) rs750163793 0.00001
NM_001267550.2(TTN):c.86934C>T (p.Val28978=) rs531340219 0.00001
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=) rs369444690 0.00001
NM_001267550.2(TTN):c.87663T>C (p.Ser29221=) rs397517737 0.00001
NM_001267550.2(TTN):c.87765T>C (p.Thr29255=) rs397517738 0.00001
NM_001267550.2(TTN):c.88307-15C>T rs727505307 0.00001
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=) rs371678936 0.00001
NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile) rs727505024 0.00001
NM_001267550.2(TTN):c.91339T>C (p.Leu30447=) rs397517753 0.00001
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=) rs727504528 0.00001
NM_001267550.2(TTN):c.94020A>G (p.Glu31340=) rs547439339 0.00001
NM_001267550.2(TTN):c.9434G>A (p.Arg3145Lys) rs727503682 0.00001
NM_001267550.2(TTN):c.95652C>T (p.Thr31884=) rs397517762 0.00001
NM_001267550.2(TTN):c.96315T>G (p.Thr32105=) rs727503540 0.00001
NM_001267550.2(TTN):c.96904+8C>T rs528358945 0.00001
NM_001267550.2(TTN):c.96978G>A (p.Leu32326=) rs397517765 0.00001
NM_001267550.2(TTN):c.97488C>T (p.Ser32496=) rs727504527 0.00001
NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys) rs761050391 0.00001
NM_001267550.2(TTN):c.98034T>C (p.Cys32678=) rs727504928 0.00001
NM_001267550.2(TTN):c.9870T>C (p.Asp3290=) rs727503680 0.00001
NM_001267550.2(TTN):c.9988+9G>A rs397517801 0.00001
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=) rs746492909 0.00001
NM_001276345.2(TNNT2):c.200-4C>G rs397516448 0.00001
NM_001277115.2(DNAH11):c.990C>T (p.Leu330=) rs376448045 0.00001
NM_001286445.3(RIPOR2):c.1245G>T (p.Leu415=) rs1406684216 0.00001
NM_001292063.2(OTOG):c.1125C>G (p.Thr375=) rs897534989 0.00001
NM_001292063.2(OTOG):c.2625C>G (p.Gly875=) rs876657552 0.00001
NM_001292063.2(OTOG):c.3078G>A (p.Arg1026=) rs1244694943 0.00001
NM_001292063.2(OTOG):c.3177C>T (p.Val1059=) rs184126223 0.00001
NM_001292063.2(OTOG):c.3183A>C (p.Thr1061=) rs780180476 0.00001
NM_001292063.2(OTOG):c.3398C>T (p.Ala1133Val) rs768393908 0.00001
NM_001292063.2(OTOG):c.4247G>A (p.Arg1416Gln) rs147318012 0.00001
NM_001292063.2(OTOG):c.5303A>G (p.Glu1768Gly) rs876657555 0.00001
NM_001292063.2(OTOG):c.5979G>A (p.Ser1993=) rs925237259 0.00001
NM_001292063.2(OTOG):c.7048G>A (p.Glu2350Lys) rs375080152 0.00001
NM_001292063.2(OTOG):c.7422C>T (p.Phe2474=) rs983539027 0.00001
NM_001292063.2(OTOG):c.7617G>T (p.Leu2539=) rs908026995 0.00001
NM_001292063.2(OTOG):c.7767G>A (p.Thr2589=) rs748617558 0.00001
NM_001292063.2(OTOG):c.7846C>T (p.Leu2616=) rs876657558 0.00001
NM_001292063.2(OTOG):c.8247C>T (p.Asn2749=) rs778915475 0.00001
NM_001292063.2(OTOG):c.8287C>T (p.Leu2763=) rs1406354520 0.00001
NM_001330.5(CTF1):c.341G>A (p.Arg114His) rs397516649 0.00001
NM_001330.5(CTF1):c.468C>T (p.Ala156=) rs397516650 0.00001
NM_001354604.2(MITF):c.1476C>T (p.Pro492=) rs745749254 0.00001
NM_001378454.1(ALMS1):c.11560G>A (p.Val3854Met) rs757475077 0.00001
NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe) rs765461259 0.00001
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=) rs377249623 0.00001
NM_001378454.1(ALMS1):c.9897C>T (p.Ser3299=) rs1217540541 0.00001
NM_001378609.3(OTOGL):c.2271C>T (p.Phe757=) rs949936521 0.00001
NM_001378609.3(OTOGL):c.3450+9A>G rs576035717 0.00001
NM_001378609.3(OTOGL):c.3804A>G (p.Ser1268=) rs183046919 0.00001
NM_001378609.3(OTOGL):c.4764G>A (p.Lys1588=) rs774916755 0.00001
NM_001378609.3(OTOGL):c.5095G>A (p.Gly1699Ser) rs563989349 0.00001
NM_001378609.3(OTOGL):c.6226+14A>G rs780160987 0.00001
NM_001379180.1(ESRRB):c.1006G>A (p.Ala336Thr) rs876657463 0.00001
NM_001379180.1(ESRRB):c.378G>A (p.Val126=) rs190465039 0.00001
NM_001379180.1(ESRRB):c.850+10T>A rs567273831 0.00001
NM_001384140.1(PCDH15):c.2092-6T>C rs780684363 0.00001
NM_001384140.1(PCDH15):c.2385A>G (p.Ala795=) rs61731362 0.00001
NM_001384140.1(PCDH15):c.3195A>G (p.Gln1065=) rs776720353 0.00001
NM_001384140.1(PCDH15):c.3276T>C (p.Asn1092=) rs772160626 0.00001
NM_001384140.1(PCDH15):c.3444C>T (p.Phe1148=) rs876657562 0.00001
NM_001384140.1(PCDH15):c.3501+13A>G rs727503365 0.00001
NM_001384140.1(PCDH15):c.4367+8G>A rs727504745 0.00001
NM_001384474.1(LOXHD1):c.3108C>T (p.Ala1036=) rs727503145 0.00001
NM_001384474.1(LOXHD1):c.3672C>T (p.Asp1224=) rs876657495 0.00001
NM_001384474.1(LOXHD1):c.4497A>G (p.Ser1499=) rs876657497 0.00001
NM_001384474.1(LOXHD1):c.51C>T (p.Ala17=) rs1454767391 0.00001
NM_001384474.1(LOXHD1):c.6072G>A (p.Thr2024=) rs1376734175 0.00001
NM_001384474.1(LOXHD1):c.6112C>T (p.Leu2038=) rs1272576323 0.00001
NM_001384474.1(LOXHD1):c.6269G>A (p.Arg2090Gln) rs760286647 0.00001
NM_001384474.1(LOXHD1):c.6342-15C>T rs1354633431 0.00001
NM_001384474.1(LOXHD1):c.670A>C (p.Ile224Leu) rs876657499 0.00001
NM_001386795.1(DTNA):c.1491G>A (p.Lys497=) rs397517444 0.00001
NM_001386795.1(DTNA):c.228C>T (p.Leu76=) rs1002773493 0.00001
NM_001386795.1(DTNA):c.67+12T>A rs876657460 0.00001
NM_001393500.2(TOMT):c.105C>T (p.Ser35=) rs890009722 0.00001
NM_001393500.2(TOMT):c.18A>G (p.Ala6=) rs876657500 0.00001
NM_001393500.2(TOMT):c.19T>C (p.Leu7=) rs876657501 0.00001
NM_001393500.2(TOMT):c.89C>T (p.Thr30Met) rs876657502 0.00001
NM_001614.5(ACTG1):c.150G>A (p.Lys50=) rs1482374138 0.00001
NM_001614.5(ACTG1):c.390G>A (p.Pro130=) rs561518636 0.00001
NM_001614.5(ACTG1):c.405C>T (p.Ala135=) rs576214455 0.00001
NM_001614.5(ACTG1):c.636C>A (p.Ile212=) rs727502883 0.00001
NM_001614.5(ACTG1):c.642G>A (p.Glu214=) rs782187026 0.00001
NM_001614.5(ACTG1):c.828G>A (p.Glu276=) rs727504806 0.00001
NM_001927.4(DES):c.282C>G (p.Ala94=) rs397516693 0.00001
NM_001927.4(DES):c.894G>A (p.Ser298=) rs747073500 0.00001
NM_001943.5(DSG2):c.1284T>C (p.Tyr428=) rs202095254 0.00001
NM_001943.5(DSG2):c.222T>C (p.His74=) rs367797047 0.00001
NM_001943.5(DSG2):c.782G>A (p.Arg261His) rs727502984 0.00001
NM_002230.4(JUP):c.2086+7G>C rs727504940 0.00001
NM_002294.3(LAMP2):c.*2773A>C rs397516587 0.00001
NM_002294.3(LAMP2):c.657A>G (p.Glu219=) rs876657484 0.00001
NM_002294.3(LAMP2):c.813A>G (p.Leu271=) rs876657485 0.00001
NM_002471.4(MYH6):c.1809C>T (p.Asn603=) rs186134696 0.00001
NM_002471.4(MYH6):c.252C>T (p.Phe84=) rs397516757 0.00001
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=) rs529107714 0.00001
NM_002471.4(MYH6):c.5019C>T (p.Ile1673=) rs397516773 0.00001
NM_002471.4(MYH6):c.5223G>A (p.Ser1741=) rs368828361 0.00001
NM_002473.6(MYH9):c.11A>G (p.Gln4Arg) rs773960235 0.00001
NM_002473.6(MYH9):c.1389G>A (p.Ser463=) rs757449139 0.00001
NM_002473.6(MYH9):c.1587C>T (p.Asp529=) rs753996104 0.00001
NM_002473.6(MYH9):c.1890C>T (p.Thr630=) rs762239398 0.00001
NM_002473.6(MYH9):c.2565G>A (p.Val855=) rs370413515 0.00001
NM_002473.6(MYH9):c.2989C>T (p.Leu997=) rs757028068 0.00001
NM_002473.6(MYH9):c.333+13C>T rs727503295 0.00001
NM_002473.6(MYH9):c.3561C>A (p.Ile1187=) rs876657520 0.00001
NM_002473.6(MYH9):c.4023C>T (p.Phe1341=) rs876657521 0.00001
NM_002473.6(MYH9):c.4638C>T (p.Asp1546=) rs727503283 0.00001
NM_002473.6(MYH9):c.4932+13G>A rs373453112 0.00001
NM_002473.6(MYH9):c.5235G>A (p.Thr1745=) rs727504684 0.00001
NM_002473.6(MYH9):c.5490C>T (p.Arg1830=) rs754771834 0.00001
NM_002473.6(MYH9):c.5765+8G>T rs766826415 0.00001
NM_002473.6(MYH9):c.5766-10C>T rs727503282 0.00001
NM_002473.6(MYH9):c.888G>A (p.Pro296=) rs559813309 0.00001
NM_002524.5(NRAS):c.159G>A (p.Leu53=) rs114668710 0.00001
NM_002654.6(PKM):c.1248C>T (p.Ala416=) rs11558368 0.00001
NM_002700.3(POU4F3):c.192T>C (p.Asp64=) rs727505245 0.00001
NM_002755.4(MAP2K1):c.1022+10C>T rs397516787 0.00001
NM_002755.4(MAP2K1):c.39G>A (p.Pro13=) rs876657503 0.00001
NM_002755.4(MAP2K1):c.879C>T (p.Pro293=) rs370521459 0.00001
NM_002764.4(PRPS1):c.12C>T (p.Ile4=) rs752590804 0.00001
NM_002834.5(PTPN11):c.1161C>T (p.Asn387=) rs727505180 0.00001
NM_002834.5(PTPN11):c.66A>G (p.Thr22=) rs397516808 0.00001
NM_002880.3(RAF1):c.-382A>G rs397516812 0.00001
NM_002880.4(RAF1):c.-169G>A rs727504398 0.00001
NM_002880.4(RAF1):c.171T>C (p.Thr57=) rs751571550 0.00001
NM_002880.4(RAF1):c.708C>T (p.His236=) rs370658857 0.00001
NM_002880.4(RAF1):c.990+9A>G rs559532794 0.00001
NM_002906.4(RDX):c.1707A>T (p.Arg569=) rs1591131619 0.00001
NM_002906.4(RDX):c.72A>G (p.Thr24=) rs148468207 0.00001
NM_003280.3(TNNC1):c.56-9T>C rs727503497 0.00001
NM_003476.5(CSRP3):c.516T>C (p.Tyr172=) rs727504575 0.00001
NM_003672.4(CDC14A):c.1371G>A (p.Thr457=) rs751290983 0.00001
NM_003803.4(MYOM1):c.120C>G (p.Thr40=) rs876657535 0.00001
NM_003803.4(MYOM1):c.297A>G (p.Thr99=) rs369402806 0.00001
NM_004004.6(GJB2):c.203A>G (p.Tyr68Cys) rs397516870 0.00001
NM_004004.6(GJB2):c.219C>T (p.His73=) rs727504755 0.00001
NM_004004.6(GJB2):c.267C>G (p.Leu89=) rs727503067 0.00001
NM_004006.3(DMD):c.1975G>A (p.Glu659Lys) rs748567438 0.00001
NM_004006.3(DMD):c.7397T>C (p.Met2466Thr) rs764330616 0.00001
NM_004006.3(DMD):c.7660+15A>G rs876657452 0.00001
NM_004100.5(EYA4):c.1308T>C (p.Asp436=) rs1029890565 0.00001
NM_004100.5(EYA4):c.1485C>T (p.Tyr495=) rs745611778 0.00001
NM_004281.4(BAG3):c.465A>G (p.Ala155=) rs775151738 0.00001
NM_004333.6(BRAF):c.1236C>T (p.Asn412=) rs397516888 0.00001
NM_004333.6(BRAF):c.1347T>C (p.Asp449=) rs397516889 0.00001
NM_004333.6(BRAF):c.2128-10T>C rs397516898 0.00001
NM_004333.6(BRAF):c.2229T>C (p.Phe743=) rs397516901 0.00001
NM_004333.6(BRAF):c.714A>T (p.Val238=) rs397516902 0.00001
NM_004403.3(GSDME):c.862+10dup rs730880353 0.00001
NM_004415.4(DSP):c.145A>G (p.Thr49Ala) rs142059019 0.00001
NM_004415.4(DSP):c.4419C>T (p.Ala1473=) rs727504542 0.00001
NM_004447.6(EPS8):c.1542G>A (p.Lys514=) rs570566810 0.00001
NM_004448.4(ERBB2):c.2443G>A (p.Gly815Arg) rs368094521 0.00001
NM_004568.6(SERPINB6):c.1128G>A (p.Pro376=) rs727505227 0.00001
NM_004568.6(SERPINB6):c.178A>G (p.Asn60Asp) rs1442219139 0.00001
NM_004700.4(KCNQ4):c.1179C>T (p.Gly393=) rs1431582898 0.00001
NM_004700.4(KCNQ4):c.1770G>A (p.Gly590=) rs762279980 0.00001
NM_004999.4(MYO6):c.1212A>G (p.Gly404=) rs397517044 0.00001
NM_004999.4(MYO6):c.2286+8T>C rs780274416 0.00001
NM_004999.4(MYO6):c.2658+8A>G rs397517048 0.00001
NM_004999.4(MYO6):c.3384A>G (p.Gln1128=) rs397517051 0.00001
NM_004999.4(MYO6):c.465C>T (p.Ala155=) rs200963569 0.00001
NM_004999.4(MYO6):c.887A>G (p.Lys296Arg) rs1402918571 0.00001
NM_005120.3(MED12):c.4047+14G>A rs774488297 0.00001
NM_005188.4(CBL):c.1071C>T (p.Pro357=) rs397517075 0.00001
NM_005188.4(CBL):c.2434+15dup rs397517079 0.00001
NM_005188.4(CBL):c.2583C>T (p.Ile861=) rs397517080 0.00001
NM_005188.4(CBL):c.2652C>T (p.Asn884=) rs879302360 0.00001
NM_005188.4(CBL):c.522T>C (p.Phe174=) rs727502912 0.00001
NM_005219.5(DIAPH1):c.2772C>T (p.Gly924=) rs779376542 0.00001
NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=) rs727504838 0.00001
NM_005219.5(DIAPH1):c.3360G>A (p.Glu1120=) rs727504670 0.00001
NM_005228.5(EGFR):c.2329C>T (p.Leu777=) rs397517117 0.00001
NM_005228.5(EGFR):c.2484G>A (p.Leu828=) rs727504312 0.00001
NM_005228.5(EGFR):c.2862C>T (p.Asp954=) rs397517138 0.00001
NM_005343.4(HRAS):c.112-10C>T rs727503092 0.00001
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140 0.00001
NM_005343.4(HRAS):c.468C>T (p.Phe156=) rs770648642 0.00001
NM_005343.4(HRAS):c.510G>A (p.Lys170=) rs397517143 0.00001
NM_005379.4(MYO1A):c.1270-10C>T rs727503322 0.00001
NM_005379.4(MYO1A):c.522C>T (p.Leu174=) rs561295735 0.00001
NM_005422.4(TECTA):c.1572C>T (p.Cys524=) rs767426110 0.00001
NM_005422.4(TECTA):c.1871C>T (p.Ala624Val) rs1248649998 0.00001
NM_005422.4(TECTA):c.2511G>A (p.Leu837=) rs201725913 0.00001
NM_005422.4(TECTA):c.2739C>T (p.Gly913=) rs727503460 0.00001
NM_005422.4(TECTA):c.4047C>T (p.Ala1349=) rs768673774 0.00001
NM_005422.4(TECTA):c.6303G>A (p.Arg2101=) rs727505252 0.00001
NM_005548.3(KARS1):c.1184A>G (p.Asn395Ser) rs780462719 0.00001
NM_005548.3(KARS1):c.1677G>A (p.Thr559=) rs765014185 0.00001
NM_005633.4(SOS1):c.2838G>A (p.Glu946=) rs397517162 0.00001
NM_005633.4(SOS1):c.3060C>T (p.Asn1020=) rs142431345 0.00001
NM_005633.4(SOS1):c.3303T>C (p.Val1101=) rs397517165 0.00001
NM_005633.4(SOS1):c.552T>C (p.Asn184=) rs727503438 0.00001
NM_005633.4(SOS1):c.87+9C>T rs397517179 0.00001
NM_006005.3(WFS1):c.1236C>T (p.Val412=) rs753290200 0.00001
NM_006005.3(WFS1):c.125G>A (p.Arg42Gln) rs750806151 0.00001
NM_006005.3(WFS1):c.1335G>C (p.Leu445=) rs1426049330 0.00001
NM_006005.3(WFS1):c.2028C>T (p.Arg676=) rs201878061 0.00001
NM_006005.3(WFS1):c.2454C>T (p.Arg818=) rs139223980 0.00001
NM_006005.3(WFS1):c.2532C>T (p.Ala844=) rs767155345 0.00001
NM_006005.3(WFS1):c.816C>T (p.Asp272=) rs762774307 0.00001
NM_006073.4(TRDN):c.232+15A>T rs769101414 0.00001
NM_006284.4(TAF10):c.*1941C>T rs776123992 0.00001
NM_006383.4(CIB2):c.141G>A (p.Arg47=) rs199524336 0.00001
NM_006393.3(NEBL):c.1228-7C>T rs200231082 0.00001
NM_006393.3(NEBL):c.2547C>T (p.Gly849=) rs180850975 0.00001
NM_006393.3(NEBL):c.2820C>T (p.His940=) rs532565487 0.00001
NM_006393.3(NEBL):c.2913C>T (p.Asp971=) rs575423101 0.00001
NM_006941.4(SOX10):c.1353C>T (p.Ser451=) rs758935474 0.00001
NM_006941.4(SOX10):c.849C>T (p.His283=) rs773196371 0.00001
NM_007078.3(LDB3):c.1017T>G (p.Ala339=) rs727504526 0.00001
NM_007078.3(LDB3):c.1605C>T (p.Thr535=) rs727505207 0.00001
NM_007078.3(LDB3):c.2025C>T (p.Pro675=) rs876657490 0.00001
NM_007078.3(LDB3):c.2091C>T (p.Cys697=) rs571356142 0.00001
NM_007078.3(LDB3):c.690-4832C>T rs546887989 0.00001
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr) rs749520121 0.00001
NM_007373.4(SHOC2):c.171C>T (p.Ser57=) rs1554857645 0.00001
NM_012208.4(HARS2):c.1224A>G (p.Thr408=) rs755985809 0.00001
NM_012208.4(HARS2):c.733-5T>C rs749557934 0.00001
NM_013296.5(GPSM2):c.123C>T (p.Arg41=) rs753005800 0.00001
NM_013296.5(GPSM2):c.186C>T (p.Ser62=) rs199575734 0.00001
NM_013296.5(GPSM2):c.1872G>A (p.Pro624=) rs1209872502 0.00001
NM_013296.5(GPSM2):c.249A>G (p.Glu83=) rs727504553 0.00001
NM_014000.3(VCL):c.1543+15G>A rs759560099 0.00001
NM_014000.3(VCL):c.2841C>T (p.Asp947=) rs566296495 0.00001
NM_014000.3(VCL):c.2852C>G (p.Pro951Arg) rs368570586 0.00001
NM_014000.3(VCL):c.3327T>C (p.Ala1109=) rs397517242 0.00001
NM_014000.3(VCL):c.874+13T>C rs777617736 0.00001
NM_014000.3(VCL):c.874+7C>G rs727503737 0.00001
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251 0.00001
NM_014476.6(PDLIM3):c.567G>A (p.Gln189=) rs776361335 0.00001
NM_015340.4(LARS2):c.1840A>G (p.Arg614Gly) rs1447357435 0.00001
NM_015404.4(WHRN):c.1578T>C (p.Gly526=) rs111033438 0.00001
NM_015404.4(WHRN):c.1725G>A (p.Gly575=) rs1333495064 0.00001
NM_015404.4(WHRN):c.1833C>T (p.Ser611=) rs752505729 0.00001
NM_015404.4(WHRN):c.376G>A (p.Ala126Thr) rs1444564272 0.00001
NM_015404.4(WHRN):c.690C>T (p.Thr230=) rs779112096 0.00001
NM_016203.4(PRKAG2):c.1071A>T (p.Thr357=) rs397517260 0.00001
NM_016203.4(PRKAG2):c.1440T>C (p.Asn480=) rs397517265 0.00001
NM_016203.4(PRKAG2):c.42T>A (p.Val14=) rs141316327 0.00001
NM_016203.4(PRKAG2):c.466+7C>A rs397517272 0.00001
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537 0.00001
NM_016203.4(PRKAG2):c.739G>C (p.Glu247Gln) rs397517281 0.00001
NM_016203.4(PRKAG2):c.897C>T (p.Asn299=) rs201876556 0.00001
NM_016239.4(MYO15A):c.3018C>A (p.Gly1006=) rs868037161 0.00001
NM_016239.4(MYO15A):c.3867-4C>G rs1323926653 0.00001
NM_016239.4(MYO15A):c.4827C>T (p.Asn1609=) rs372121604 0.00001
NM_016239.4(MYO15A):c.6486G>A (p.Pro2162=) rs1313329708 0.00001
NM_016239.4(MYO15A):c.6612C>T (p.Arg2204=) rs752560714 0.00001
NM_016239.4(MYO15A):c.6669G>A (p.Ala2223=) rs558947304 0.00001
NM_016239.4(MYO15A):c.6691+6dup rs876657526 0.00001
NM_016239.4(MYO15A):c.7118-12C>T rs561546411 0.00001
NM_016239.4(MYO15A):c.7197G>A (p.Leu2399=) rs981596520 0.00001
NM_016239.4(MYO15A):c.7386C>T (p.Ala2462=) rs568637767 0.00001
NM_016239.4(MYO15A):c.7758G>A (p.Pro2586=) rs566210647 0.00001
NM_016239.4(MYO15A):c.7893+14G>A rs727503317 0.00001
NM_016239.4(MYO15A):c.8115C>T (p.Ser2705=) rs1160269595 0.00001
NM_016239.4(MYO15A):c.9180C>T (p.Ile3060=) rs968105343 0.00001
NM_016599.5(MYOZ2):c.190A>C (p.Arg64=) rs727505324 0.00001
NM_016599.5(MYOZ2):c.560+9A>G rs397517290 0.00001
NM_016616.5(NME8):c.774C>T (p.Val258=) rs764505957 0.00001
NM_016929.5(CLIC5):c.192C>T (p.His64=) rs770346363 0.00001
NM_017433.5(MYO3A):c.288G>A (p.Leu96=) rs760525102 0.00001
NM_017433.5(MYO3A):c.4847C>T (p.Ser1616Phe) rs752615488 0.00001
NM_017780.4(CHD7):c.1566C>T (p.Gly522=) rs759347960 0.00001
NM_017780.4(CHD7):c.176C>G (p.Thr59Ser) rs548706525 0.00001
NM_017780.4(CHD7):c.7233C>T (p.Ala2411=) rs771141688 0.00001
NM_020297.4(ABCC9):c.1875G>A (p.Ser625=) rs727502873 0.00001
NM_020297.4(ABCC9):c.2199-6T>C rs535477725 0.00001
NM_020297.4(ABCC9):c.2547T>C (p.His849=) rs876657428 0.00001
NM_020297.4(ABCC9):c.324C>T (p.Ala108=) rs770552940 0.00001
NM_020297.4(ABCC9):c.406+14C>G rs752547896 0.00001
NM_020297.4(ABCC9):c.4365G>A (p.Gln1455=) rs727504785 0.00001
NM_020433.5(JPH2):c.363G>A (p.Glu121=) rs753073876 0.00001
NM_020975.6(RET):c.2547C>T (p.Gly849=) rs770674650 0.00001
NM_021116.4(ADCY1):c.1200C>T (p.His400=) rs369432043 0.00001
NM_021167.5(GATAD1):c.468T>C (p.Ser156=) rs781323574 0.00001
NM_022114.4(PRDM16):c.1977G>A (p.Pro659=) rs759550479 0.00001
NM_022114.4(PRDM16):c.2106G>A (p.Lys702=) rs776564044 0.00001
NM_022114.4(PRDM16):c.657A>C (p.Thr219=) rs777464880 0.00001
NM_022114.4(PRDM16):c.666C>T (p.Pro222=) rs876657565 0.00001
NM_022124.6(CDH23):c.10033A>C (p.Met3345Leu) rs368597074 0.00001
NM_022124.6(CDH23):c.1135-7T>C rs397517303 0.00001
NM_022124.6(CDH23):c.1428G>T (p.Gly476=) rs397517306 0.00001
NM_022124.6(CDH23):c.1695C>G (p.Ala565=) rs372380590 0.00001
NM_022124.6(CDH23):c.3151G>A (p.Val1051Ile) rs876657439 0.00001
NM_022124.6(CDH23):c.3408T>A (p.Arg1136=) rs1223980355 0.00001
NM_022124.6(CDH23):c.3438T>C (p.His1146=) rs775496154 0.00001
NM_022124.6(CDH23):c.4128G>C (p.Leu1376=) rs773827025 0.00001
NM_022124.6(CDH23):c.4425C>T (p.Ser1475=) rs554295504 0.00001
NM_022124.6(CDH23):c.4617+8C>A rs377526599 0.00001
NM_022124.6(CDH23):c.4746C>T (p.Ser1582=) rs370132610 0.00001
NM_022124.6(CDH23):c.5499C>T (p.Ser1833=) rs397517339 0.00001
NM_022124.6(CDH23):c.552C>T (p.Arg184=) rs768251221 0.00001
NM_022124.6(CDH23):c.5924-6G>T rs727505190 0.00001
NM_022124.6(CDH23):c.618C>T (p.Asn206=) rs397517348 0.00001
NM_022124.6(CDH23):c.6196C>T (p.Arg2066Trp) rs111033489 0.00001
NM_022124.6(CDH23):c.6264C>A (p.Val2088=) rs727504898 0.00001
NM_022124.6(CDH23):c.6795C>T (p.Ser2265=) rs751113848 0.00001
NM_022124.6(CDH23):c.7176C>T (p.Ile2392=) rs375991880 0.00001
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352 0.00001
NM_022124.6(CDH23):c.9024A>G (p.Glu3008=) rs727505162 0.00001
NM_022124.6(CDH23):c.9177G>A (p.Pro3059=) rs371609236 0.00001
NM_022124.6(CDH23):c.9278+15C>T rs727504751 0.00001
NM_022124.6(CDH23):c.9738+6C>T rs727504562 0.00001
NM_024334.3(TMEM43):c.763C>T (p.Leu255=) rs761968722 0.00001
NM_024422.6(DSC2):c.1077+11G>T rs727504868 0.00001
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396 0.00001
NM_024422.6(DSC2):c.267G>A (p.Ser89=) rs201363937 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024915.4(GRHL2):c.373T>G (p.Ser125Ala) rs145518215 0.00001
NM_024915.4(GRHL2):c.432C>T (p.Pro144=) rs756526962 0.00001
NM_030662.4(MAP2K2):c.384G>A (p.Pro128=) rs727503156 0.00001
NM_030662.4(MAP2K2):c.621G>A (p.Glu207=) rs397517416 0.00001
NM_030662.4(MAP2K2):c.639C>T (p.Phe213=) rs727504818 0.00001
NM_031475.3(ESPN):c.882C>T (p.Asn294=) rs1023507079 0.00001
NM_032119.4(ADGRV1):c.10066A>G (p.Ile3356Val) rs727503078 0.00001
NM_032119.4(ADGRV1):c.11999C>T (p.Thr4000Met) rs758506587 0.00001
NM_032119.4(ADGRV1):c.12489G>C (p.Gly4163=) rs727503080 0.00001
NM_032119.4(ADGRV1):c.13579A>G (p.Ile4527Val) rs777190245 0.00001
NM_032119.4(ADGRV1):c.14022G>A (p.Lys4674=) rs1554117199 0.00001
NM_032119.4(ADGRV1):c.14185G>A (p.Asp4729Asn) rs778820230 0.00001
NM_032119.4(ADGRV1):c.1464G>A (p.Leu488=) rs397517422 0.00001
NM_032119.4(ADGRV1):c.15076C>T (p.His5026Tyr) rs397517423 0.00001
NM_032119.4(ADGRV1):c.1509+11T>C rs397517424 0.00001
NM_032119.4(ADGRV1):c.15300G>A (p.Arg5100=) rs774978203 0.00001
NM_032119.4(ADGRV1):c.16165T>C (p.Leu5389=) rs1451740883 0.00001
NM_032119.4(ADGRV1):c.16321A>G (p.Met5441Val) rs1265127867 0.00001
NM_032119.4(ADGRV1):c.17204+7A>G rs569253795 0.00001
NM_032119.4(ADGRV1):c.17454+10C>T rs778501967 0.00001
NM_032119.4(ADGRV1):c.17512G>A (p.Val5838Ile) rs727504913 0.00001
NM_032119.4(ADGRV1):c.17594+8T>C rs772433066 0.00001
NM_032119.4(ADGRV1):c.18094T>C (p.Leu6032=) rs766197164 0.00001
NM_032119.4(ADGRV1):c.222C>T (p.Asp74=) rs181146384 0.00001
NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln) rs766225545 0.00001
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=) rs369910075 0.00001
NM_032119.4(ADGRV1):c.4119G>A (p.Ala1373=) rs111033484 0.00001
NM_032119.4(ADGRV1):c.4149C>T (p.Tyr1383=) rs138929990 0.00001
NM_032119.4(ADGRV1):c.5110+13T>C rs397517431 0.00001
NM_032119.4(ADGRV1):c.5469A>G (p.Gly1823=) rs766924889 0.00001
NM_032119.4(ADGRV1):c.5524+15C>T rs397517432 0.00001
NM_032119.4(ADGRV1):c.6552C>T (p.Ala2184=) rs763086961 0.00001
NM_032119.4(ADGRV1):c.838A>T (p.Ile280Leu) rs772896545 0.00001
NM_032119.4(ADGRV1):c.8521A>G (p.Asn2841Asp) rs727504560 0.00001
NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=) rs397517442 0.00001
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val) rs759038879 0.00001
NM_032119.4(ADGRV1):c.9477G>A (p.Thr3159=) rs777032531 0.00001
NM_032229.3(SLITRK6):c.82A>G (p.Arg28Gly) rs1019837602 0.00001
NM_032578.4(MYPN):c.1188A>G (p.Pro396=) rs371437119 0.00001
NM_032578.4(MYPN):c.2466G>A (p.Arg822=) rs1298116965 0.00001
NM_033056.4(PCDH15):c.5334T>C (p.Cys1778=) rs727503362 0.00001
NM_033118.4(MYLK2):c.21A>G (p.Ala7=) rs754853086 0.00001
NM_033118.4(MYLK2):c.353C>T (p.Ser118Leu) rs727503304 0.00001
NM_033118.4(MYLK2):c.393G>A (p.Lys131=) rs397517474 0.00001
NM_033118.4(MYLK2):c.972+13C>T rs876657524 0.00001
NM_033380.3(COL4A5):c.2865G>A (p.Met955Ile) rs1350078739 0.00001
NM_033409.4(SLC52A3):c.*12A>G rs547810606 0.00001
NM_033409.4(SLC52A3):c.927C>T (p.Phe309=) rs781422986 0.00001
NM_033409.4(SLC52A3):c.951G>A (p.Met317Ile) rs1027231153 0.00001
NM_057176.3(BSND):c.183C>T (p.Thr61=) rs377452238 0.00001
NM_080680.3(COL11A2):c.1005T>A (p.Gly335=) rs1288780147 0.00001
NM_080680.3(COL11A2):c.2808C>T (p.Thr936=) rs775487504 0.00001
NM_080680.3(COL11A2):c.3531A>C (p.Gly1177=) rs530771165 0.00001
NM_080680.3(COL11A2):c.3878G>A (p.Arg1293Gln) rs727504832 0.00001
NM_080680.3(COL11A2):c.3945G>A (p.Gly1315=) rs1321962760 0.00001
NM_080680.3(COL11A2):c.4797C>T (p.Phe1599=) rs1455846667 0.00001
NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=) rs142893093 0.00001
NM_133261.3(GIPC3):c.192G>A (p.Lys64=) rs876657466 0.00001
NM_133261.3(GIPC3):c.315C>T (p.His105=) rs876657468 0.00001
NM_133261.3(GIPC3):c.75G>T (p.Ser25=) rs1321208549 0.00001
NM_133261.3(GIPC3):c.788-5C>T rs528822982 0.00001
NM_133379.5(TTN):c.11064T>C (p.Asn3688=) rs727503672 0.00001
NM_138691.3(TMC1):c.1071C>T (p.Asn357=) rs1489881026 0.00001
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile) rs184603559 0.00001
NM_138691.3(TMC1):c.684C>T (p.Thr228=) rs890529621 0.00001
NM_139276.3(STAT3):c.1366-11T>C rs761523186 0.00001
NM_144573.4(NEXN):c.1704C>T (p.Gly568=) rs397517850 0.00001
NM_144573.4(NEXN):c.237T>C (p.Ala79=) rs727504549 0.00001
NM_144573.4(NEXN):c.298+10T>C rs397517854 0.00001
NM_144991.3(TSPEAR):c.306G>A (p.Arg102=) rs782275376 0.00001
NM_152594.3(SPRED1):c.27C>T (p.Asp9=) rs727504717 0.00001
NM_152732.5(RSPH9):c.702T>C (p.Asn234=) rs757687268 0.00001
NM_153676.4(USH1C):c.1531-11A>G rs397517872 0.00001
NM_153676.4(USH1C):c.2568A>G (p.Val856=) rs1385487954 0.00001
NM_153676.4(USH1C):c.582C>T (p.Gly194=) rs397517882 0.00001
NM_153700.2(STRC):c.4581G>A (p.Gln1527=) rs1331991004 0.00001
NM_153700.2(STRC):c.4844+15G>A rs749407115 0.00001
NM_153700.2(STRC):c.4904T>C (p.Val1635Ala) rs1370498166 0.00001
NM_170682.4(P2RX2):c.1413C>T (p.Leu471=) rs568364905 0.00001
NM_170707.4(LMNA):c.1488+8G>A rs762836610 0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=) rs776066211 0.00001
NM_170707.4(LMNA):c.1773C>T (p.Cys591=) rs397517897 0.00001
NM_170707.4(LMNA):c.954G>A (p.Ala318=) rs397517914 0.00001
NM_174878.3(CLRN1):c.39C>T (p.Ala13=) rs1056326402 0.00001
NM_178335.3(CCDC50):c.136G>A (p.Val46Ile) rs762006742 0.00001
NM_178335.3(CCDC50):c.804G>A (p.Gln268=) rs876657435 0.00001
NM_194248.3(OTOF):c.*204G>A rs775320200 0.00001
NM_194248.3(OTOF):c.227+12A>G rs397517938 0.00001
NM_194248.3(OTOF):c.2406+9G>A rs397517939 0.00001
NM_194248.3(OTOF):c.2524-14C>T rs727503357 0.00001
NM_194248.3(OTOF):c.2676+10G>C rs727503356 0.00001
NM_194248.3(OTOF):c.2972A>G (p.Asn991Ser) rs397517940 0.00001
NM_194248.3(OTOF):c.3156C>T (p.Phe1052=) rs397517942 0.00001
NM_194248.3(OTOF):c.3276C>T (p.Phe1092=) rs776668692 0.00001
NM_194248.3(OTOF):c.3731C>T (p.Thr1244Met) rs368293095 0.00001
NM_194248.3(OTOF):c.4023+7C>T rs370239223 0.00001
NM_194248.3(OTOF):c.4734C>T (p.Ile1578=) rs748951588 0.00001
NM_194248.3(OTOF):c.5103+7C>T rs397517948 0.00001
NM_194248.3(OTOF):c.5712+6C>G rs200435099 0.00001
NM_194248.3(OTOF):c.5882C>T (p.Thr1961Met) rs779578562 0.00001
NM_198253.3(TERT):c.3032+7C>T rs371500615 0.00001
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=) rs397517967 0.00001
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln) rs727504582 0.00001
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val) rs727505097 0.00001
NM_206933.4(USH2A):c.13386C>T (p.Ile4462=) rs187707339 0.00001
NM_206933.4(USH2A):c.13622A>C (p.Gln4541Pro) rs143032902 0.00001
NM_206933.4(USH2A):c.13704C>T (p.Phe4568=) rs397517986 0.00001
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser) rs369513607 0.00001
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met) rs727504686 0.00001
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=) rs397517992 0.00001
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=) rs397517995 0.00001
NM_206933.4(USH2A):c.15102C>T (p.Ser5034=) rs147916810 0.00001
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=) rs762610249 0.00001
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=) rs546494522 0.00001
NM_206933.4(USH2A):c.1942A>G (p.Thr648Ala) rs1239032275 0.00001
NM_206933.4(USH2A):c.3351A>G (p.Pro1117=) rs946318077 0.00001
NM_206933.4(USH2A):c.4313G>A (p.Arg1438Lys) rs876657627 0.00001
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val) rs397518017 0.00001
NM_206933.4(USH2A):c.553A>G (p.Met185Val) rs770266757 0.00001
NM_206933.4(USH2A):c.5776+7T>G rs397518020 0.00001
NM_206933.4(USH2A):c.5858-12A>G rs727503727 0.00001
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=) rs397518028 0.00001
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg) rs397518032 0.00001
NM_206933.4(USH2A):c.8098G>A (p.Val2700Ile) rs778655083 0.00001
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=) rs727505274 0.00001
NM_206933.4(USH2A):c.897A>G (p.Gln299=) rs201062965 0.00001
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys) rs559922535 0.00001
NM_207034.3(EDN3):c.585G>C (p.Gly195=) rs760582150 0.00001
NC_012920.1(MT-CYB):m.1008A>G rs727504505
NC_012920.1(MT-CYB):m.1040T>C rs727503163
NC_012920.1(MT-CYB):m.1041A>G rs58327546
NC_012920.1(MT-CYB):m.1047A>G rs1556422506
NC_012920.1(MT-CYB):m.1117A>G rs2068677687
NC_012920.1(MT-CYB):m.1120C>T rs727505171
NC_012920.1(MT-CYB):m.1290C>T rs1556422517
NC_012920.1(MT-CYB):m.1299A>G rs1556422518
NC_012920.1(MT-CYB):m.953T>C rs1556422495
NC_012920.1(MT-CYB):m.961_962del rs1556422498
NC_012920.1(MT-CYB):m.979C>T rs876657507
NC_012920.1(MT-CYB):m.990T>C rs727503165
NC_012920.1(MT-ND1):m.1313A>G rs1603218542
NC_012920.1:m.1341C>T rs1556422519
NC_012920.1:m.1415G>A rs876657505
NC_012920.1:m.1461A>G rs1556422534
NC_012920.1:m.1473C>T rs1556422538
NC_012920.1:m.1508C>T rs386828884
NC_012920.1:m.1536A>G rs876657506
NC_012920.1:m.7472A>T rs1556423293
NM_000091.5(COL4A3):c.3861C>T (p.Asp1287=) rs865786656
NM_000091.5(COL4A3):c.405A>G (p.Pro135=) rs1574675832
NM_000092.5(COL4A4):c.2319G>A (p.Arg773=) rs200920187
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr) rs200761108
NM_000092.5(COL4A4):c.297T>A (p.Pro99=) rs1576662029
NM_000092.5(COL4A4):c.4334-3del rs780415519
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000116.5(TAFAZZIN):c.-17C>T rs727504330
NM_000117.3(EMD):c.571A>G (p.Met191Val) rs397515752
NM_000138.5(FBN1):c.300C>T (p.Cys100=) rs397515783
NM_000138.5(FBN1):c.7881G>A (p.Gly2627=) rs397515858
NM_000169.3(GLA):c.194+14G>C rs876657469
NM_000169.3(GLA):c.28C>T (p.Leu10=) rs727503073
NM_000169.3(GLA):c.630C>T (p.Pro210=) rs727503071
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.3(KCNQ1):c.1374C>T (p.Val458=) rs778598703
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=) rs569971691
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.531C>T (p.Ser177=) rs757713526
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=) rs146350010
NM_000218.3(KCNQ1):c.781-19TG[2] rs727503103
NM_000219.3(KCNE1):c.(?_-50-60)_(*181_?)dup
NM_000219.6(KCNE1):c.18C>G (p.Thr6=) rs727503102
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000251.3(MSH2):c.51C>T (p.Val17=) rs397515879
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=) rs397515880
NM_000256.3(MYBPC3):c.1624+13G>A rs397515913
NM_000256.3(MYBPC3):c.1624+13G>C rs397515913
NM_000256.3(MYBPC3):c.1624+9G>A rs397515917
NM_000256.3(MYBPC3):c.1641G>A (p.Val547=) rs397515915
NM_000256.3(MYBPC3):c.1719T>G (p.Val573=) rs397515921
NM_000256.3(MYBPC3):c.1776G>A (p.Val592=) rs727503196
NM_000256.3(MYBPC3):c.1791-10_1791-8delinsCCT rs876657510
NM_000256.3(MYBPC3):c.2136G>A (p.Val712=) rs876657511
NM_000256.3(MYBPC3):c.2309-20G>A rs397515958
NM_000256.3(MYBPC3):c.2499G>A (p.Ala833=) rs397515967
NM_000256.3(MYBPC3):c.2784G>A (p.Ser928=) rs372510974
NM_000256.3(MYBPC3):c.2856T>G (p.Pro952=) rs397515989
NM_000256.3(MYBPC3):c.3087C>T (p.Ile1029=) rs201515977
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr) rs397516009
NM_000256.3(MYBPC3):c.3285G>C (p.Thr1095=) rs367927327
NM_000256.3(MYBPC3):c.3315C>T (p.Ala1105=) rs200372325
NM_000256.3(MYBPC3):c.333T>C (p.Ala111=) rs397516017
NM_000256.3(MYBPC3):c.3585C>A (p.Gly1195=) rs397516027
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.3651T>C (p.Asn1217=) rs528649058
NM_000256.3(MYBPC3):c.3753T>C (p.Tyr1251=) rs397516039
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267
NM_000256.3(MYBPC3):c.933G>A (p.Ser311=) rs374326087
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) rs374326087
NM_000257.4(MYH7):c.1269C>T (p.Ala423=) rs727503267
NM_000257.4(MYH7):c.1536C>T (p.Asp512=) rs1555338248
NM_000257.4(MYH7):c.156G>A (p.Val52=) rs397516112
NM_000257.4(MYH7):c.1653G>A (p.Lys551=) rs368160680
NM_000257.4(MYH7):c.1755C>A (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.183C>G (p.Ala61=) rs370743876
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile) rs727503262
NM_000257.4(MYH7):c.2358G>T (p.Thr786=) rs36211714
NM_000257.4(MYH7):c.2388C>T (p.Leu796=) rs397516144
NM_000257.4(MYH7):c.2799T>C (p.Asn933=) rs397516173
NM_000257.4(MYH7):c.2802T>G (p.Ala934=) rs397516174
NM_000257.4(MYH7):c.2823C>T (p.Arg941=) rs727503251
NM_000257.4(MYH7):c.3438C>T (p.Ile1146=) rs876657519
NM_000257.4(MYH7):c.3621C>A (p.Ile1207=) rs529700838
NM_000257.4(MYH7):c.3754T>C (p.Leu1252=) rs397516193
NM_000257.4(MYH7):c.3829C>A (p.Arg1277=) rs727503248
NM_000257.4(MYH7):c.396G>T (p.Pro132=) rs138932714
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=) rs200852418
NM_000257.4(MYH7):c.4212G>T (p.Val1404=) rs397516205
NM_000257.4(MYH7):c.4362C>G (p.Ala1454=) rs727505281
NM_000257.4(MYH7):c.4395G>T (p.Ser1465=) rs397516213
NM_000257.4(MYH7):c.4515G>T (p.Leu1505=) rs397516219
NM_000257.4(MYH7):c.4953+13A>T rs373509029
NM_000257.4(MYH7):c.5421C>G (p.Gly1807=) rs142844109
NM_000257.4(MYH7):c.5421C>T (p.Gly1807=) rs142844109
NM_000257.4(MYH7):c.5656-4G>C rs397516250
NM_000257.4(MYH7):c.5739C>T (p.Ala1913=) rs200921000
NM_000257.4(MYH7):c.895+11G>A rs727504860
NM_000258.3(MYL3):c.165G>A (p.Lys55=) rs397516277
NM_000258.3(MYL3):c.477G>T (p.Thr159=) rs148365503
NM_000258.3(MYL3):c.9C>G (p.Pro3=) rs397516280
NM_000260.4(MYO7A):c.1343+8G>T rs2276278
NM_000260.4(MYO7A):c.1623C>G (p.Pro541=) rs373327248
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2829G>A (p.Val943=) rs797044494
NM_000260.4(MYO7A):c.3036A>G (p.Thr1012=) rs111033251
NM_000260.4(MYO7A):c.3109-13_3109-12insTCTGGCCTCTGACATGTGCGC rs869312123
NM_000260.4(MYO7A):c.3924+10CCCGGAAGCACCTCCT[3] rs759572835
NM_000260.4(MYO7A):c.4153-8C>G rs143216377
NM_000260.4(MYO7A):c.4153-8C>T rs143216377
NM_000260.4(MYO7A):c.4251C>T (p.Ile1417=) rs397516307
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.4(MYO7A):c.5487C>T (p.Ser1829=) rs397516318
NM_000260.4(MYO7A):c.6054G>A (p.Glu2018=) rs1239820996
NM_000260.4(MYO7A):c.612C>A (p.Thr204=) rs1555062863
NM_000260.4(MYO7A):c.6267A>G (p.Ala2089=) rs564910239
NM_000260.4(MYO7A):c.765C>T (p.Phe255=) rs782702948
NM_000295.5(SERPINA1):c.792G>A (p.Leu264=) rs1429761476
NM_000307.5(POU3F4):c.249C>A (p.Pro83=) rs370722742
NM_000307.5(POU3F4):c.591C>T (p.Phe197=) rs1555984566
NM_000307.5(POU3F4):c.798G>A (p.Pro266=) rs186990152
NM_000335.5(SCN5A):c.1020G>T (p.Arg340=) rs727503410
NM_000335.5(SCN5A):c.1347C>A (p.Thr449=) rs45477694
NM_000335.5(SCN5A):c.1653G>A (p.Ala551=) rs397517952
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.3508+14C>A rs397516561
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=) rs200334972
NM_000335.5(SCN5A):c.4296+10C>T rs1553694579
NM_000335.5(SCN5A):c.567T>C (p.Leu189=) rs876657581
NM_000335.5(SCN5A):c.756T>C (p.Asp252=) rs397517958
NM_000336.3(SCNN1B):c.1554G>A (p.Leu518=) rs1351010659
NM_000337.6(SGCD):c.177C>T (p.Val59=) rs727505265
NM_000361.3(THBD):c.456C>T (p.Ile152=) rs1060499909
NM_000363.5(TNNI3):c.105C>A (p.Ala35=) rs397516339
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.150+13G>T rs73617692
NM_000364.4(TNNT2):c.489+7dup rs397516467
NM_000371.4(TTR):c.369C>G (p.Arg123=) rs1598846734
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000414.4(HSD17B4):c.113-2248T>C rs876657476
NM_000414.4(HSD17B4):c.1450A>G (p.Ile484Val) rs775297352
NM_000414.4(HSD17B4):c.1809G>A (p.Val603=) rs1279792063
NM_000414.4(HSD17B4):c.2121+7T>C rs876657477
NM_000432.4(MYL2):c.141C>T (p.Asn47=) rs199474808
NM_000432.4(MYL2):c.237T>C (p.Phe79=) rs727503298
NM_000432.4(MYL2):c.274+9GT[10] rs142567411
NM_000432.4(MYL2):c.324T>C (p.Pro108=) rs397516403
NM_000432.4(MYL2):c.429C>G (p.Pro143=) rs374328118
NM_000432.4(MYL2):c.480C>T (p.Thr160=) rs727505065
NM_000441.1(SLC26A4):c.-66C>T rs17154282
NM_000441.2(SLC26A4):c.1545-14_1545-12del rs397516419
NM_000441.2(SLC26A4):c.2029C>A (p.Arg677=) rs397516426
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) rs370020280
NM_000441.2(SLC26A4):c.75G>C (p.Pro25=) rs570668954
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000492.4(CFTR):c.489+8T>C rs727504712
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000503.6(EYA1):c.967-13T>C rs749461885
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000542.5(SFTPB):c.29TGC[4] (p.Leu14del) rs147057701
NM_000542.5(SFTPB):c.741G>A (p.Gln247=) rs727503418
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000601.6(HGF):c.1041-12T>C rs546227025
NM_001005242.3(PKP2):c.1287C>T (p.Asn429=) rs727505239
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg) rs397516998
NM_001005242.3(PKP2):c.1556+9A>G rs397517004
NM_001005242.3(PKP2):c.1624C>T (p.Leu542=) rs397517007
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2268C>T (p.Asn756=) rs876657564
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001018005.2(TPM1):c.115-298G>A rs786205439
NM_001018005.2(TPM1):c.321A>C (p.Ala107=) rs397516368
NM_001018005.2(TPM1):c.563+10C>T rs397516377
NM_001018005.2(TPM1):c.563+348G>T rs397516381
NM_001018005.2(TPM1):c.563+6C>A rs397516378
NM_001018005.2(TPM1):c.603G>C (p.Thr201=) rs397516485
NM_001018005.2(TPM1):c.639+13del rs397516488
NM_001018116.2(CAVIN4):c.702_722del (p.234_240LRQSGER[2]) rs876657508
NM_001018116.2(CAVIN4):c.868A>C (p.Arg290=) rs876657509
NM_001032283.3(TMPO):c.396T>A (p.Gly132=) rs397516844
NM_001032283.3(TMPO):c.565+2042A>C rs397516842
NM_001032283.3(TMPO):c.663+13T>G rs727504798
NM_001032283.3(TMPO):c.681A>G (p.Gly227=) rs727504733
NM_001035.2(RYR2):c.14091-11dup rs35563566
NM_001035.3(RYR2):c.1056T>C (p.Ser352=) rs876657573
NM_001035.3(RYR2):c.10602A>G (p.Leu3534=) rs397516498
NM_001035.3(RYR2):c.11092-11del rs397516499
NM_001035.3(RYR2):c.11092-11dup rs397516499
NM_001035.3(RYR2):c.11092-12_11092-11del rs397516499
NM_001035.3(RYR2):c.11385C>A (p.Gly3795=) rs919989129
NM_001035.3(RYR2):c.1170+15A>G rs727504810
NM_001035.3(RYR2):c.11775+13del rs397516507
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=) rs372943408
NM_001035.3(RYR2):c.13071C>T (p.Ala4357=) rs876657574
NM_001035.3(RYR2):c.14091-11del rs35563566
NM_001035.3(RYR2):c.1446G>A (p.Leu482=) rs397516517
NM_001035.3(RYR2):c.1477-11del rs397516518
NM_001035.3(RYR2):c.1477-11dup rs397516518
NM_001035.3(RYR2):c.2396+12T>A rs876657576
NM_001035.3(RYR2):c.2871T>C (p.Ala957=) rs771821687
NM_001035.3(RYR2):c.3567A>G (p.Glu1189=) rs368959706
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.375T>C (p.Tyr125=) rs397516528
NM_001035.3(RYR2):c.385-9A>C rs140998248
NM_001035.3(RYR2):c.4125T>C (p.Asp1375=) rs397516529
NM_001035.3(RYR2):c.4160+10T>C rs397516530
NM_001035.3(RYR2):c.4395A>C (p.Val1465=) rs1308165341
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.4770C>T (p.Phe1590=) rs397516536
NM_001035.3(RYR2):c.4941G>A (p.Gln1647=) rs727504997
NM_001035.3(RYR2):c.4950G>A (p.Leu1650=) rs376251968
NM_001035.3(RYR2):c.5190G>A (p.Thr1730=) rs397516541
NM_001035.3(RYR2):c.5616T>C (p.Asp1872=) rs765786213
NM_001035.3(RYR2):c.6738G>A (p.Ser2246=) rs368207198
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.7222-12dup rs145140335
NM_001035.3(RYR2):c.7287G>A (p.Leu2429=) rs876657578
NM_001035.3(RYR2):c.9198G>A (p.Glu3066=) rs727504729
NM_001038603.3(MARVELD2):c.156A>T (p.Pro52=) rs138816138
NM_001039141.3(TRIOBP):c.301G>A (p.Ala101Thr) rs752612856
NM_001039141.3(TRIOBP):c.4101G>A (p.Arg1367=) rs727505244
NM_001039141.3(TRIOBP):c.4244G>A (p.Ser1415Asn) rs727505184
NM_001039141.3(TRIOBP):c.4271T>C (p.Leu1424Pro) rs727505298
NM_001039141.3(TRIOBP):c.4572G>A (p.Glu1524=) rs876657593
NM_001039141.3(TRIOBP):c.4621G>A (p.Ala1541Thr) rs727504784
NM_001039141.3(TRIOBP):c.4645C>T (p.Arg1549Cys) rs727505081
NM_001039141.3(TRIOBP):c.5358G>A (p.Ser1786=) rs139435527
NM_001039141.3(TRIOBP):c.5358G>T (p.Ser1786=) rs139435527
NM_001039141.3(TRIOBP):c.6283T>C (p.Ser2095Pro) rs369453731
NM_001039141.3(TRIOBP):c.6324+9G>A rs376601715
NM_001039141.3(TRIOBP):c.6936+13G>T rs727503529
NM_001039141.3(TRIOBP):c.6975T>C (p.Tyr2325=) rs1601672944
NM_001039213.4(CEACAM16):c.*4C>A rs199656542
NM_001039213.4(CEACAM16):c.1249G>C (p.Val417Leu) rs199597608
NM_001039213.4(CEACAM16):c.246G>A (p.Thr82=) rs761814983
NM_001039213.4(CEACAM16):c.941-8C>T rs876657441
NM_001039876.3(SYNE4):c.1157G>A (p.Arg386Gln) rs200818193
NM_001039876.3(SYNE4):c.411G>A (p.Met137Ile) rs760007740
NM_001039876.3(SYNE4):c.59C>T (p.Pro20Leu) rs1450675140
NM_001042475.3(CEP85L):c.1020+6445A>T rs397516782
NM_001042492.3(NF1):c.1450C>T (p.Leu484=) rs876657544
NM_001042492.3(NF1):c.4752C>T (p.Phe1584=) rs876657545
NM_001042492.3(NF1):c.6366A>G (p.Thr2122=) rs876657547
NM_001042492.3(NF1):c.6732G>A (p.Leu2244=) rs876657548
NM_001042492.3(NF1):c.8479G>A (p.Ala2827Thr) rs199878086
NM_001042702.5(PJVK):c.195C>G (p.Asp65Glu) rs727504946
NM_001042702.5(PJVK):c.360C>A (p.Thr120=) rs876657450
NM_001080476.2(GRXCR1):c.(?_-62)_*(153_?)dup
NM_001080476.3(GRXCR1):c.234T>C (p.Asp78=) rs376086928
NM_001080476.3(GRXCR1):c.597T>A (p.Pro199=) rs1553941946
NM_001080476.3(GRXCR1):c.627+8A>T rs10213360
NM_001080476.3(GRXCR1):c.628-11C>T rs727503089
NM_001080476.3(GRXCR1):c.822T>C (p.Cys274=) rs1441618706
NM_001089.3(ABCA3):c.2199C>T (p.Ile733=) rs138901284
NM_001098671.2(RASGRP2):c.81C>T (p.Ser27=) rs1060499893
NM_001099402.2(CCNK):c.1446G>C (p.Pro482=) rs746815273
NM_001099402.2(CCNK):c.1524A>C (p.Pro508=) rs776290356
NM_001099402.2(CCNK):c.1530A>C (p.Pro510=) rs759190666
NM_001103.4(ACTN2):c.1104G>A (p.Val368=) rs397516563
NM_001103.4(ACTN2):c.1278G>A (p.Gln426=) rs397516565
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.4(ACTN2):c.2506C>A (p.Arg836=) rs727502887
NM_001103.4(ACTN2):c.324C>A (p.Ala108=) rs727502885
NM_001103.4(ACTN2):c.786C>T (p.Ala262=) rs201636760
NM_001103.4(ACTN2):c.93C>T (p.Leu31=) rs397516586
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs) rs371622656
NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val) rs727503116
NM_001105206.3(LAMA4):c.1374G>A (p.Glu458=) rs397516717
NM_001105206.3(LAMA4):c.140C>T (p.Pro47Leu) rs727503115
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001105206.3(LAMA4):c.2977-5C>T rs1554332652
NM_001105206.3(LAMA4):c.4386C>T (p.Ser1462=) rs397516729
NM_001105206.3(LAMA4):c.5002T>C (p.Leu1668=) rs369799390
NM_001110219.3(GJB6):c.264G>A (p.Ala88=) rs758356020
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_001122659.3(EDNRB):c.1284C>A (p.His428Gln) rs754498240
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile) rs77132068
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_001127453.2(GSDME):c.1416G>A (p.Lys472=) rs727504956
NM_001127453.2(GSDME):c.570G>A (p.Thr190=) rs876657449
NM_001127453.2(GSDME):c.656A>G (p.Tyr219Cys) rs1554325967
NM_001128228.3(TPRN):c.1818GGA[11] (p.Glu620_Glu621dup) rs376810326
NM_001128228.3(TPRN):c.2073+10G>A rs368771637
NM_001128840.3(CACNA1D):c.1956G>T (p.Ser652=) rs746739986
NM_001128840.3(CACNA1D):c.2277A>G (p.Glu759=) rs770074186
NM_001128840.3(CACNA1D):c.450T>C (p.Pro150=) rs876657433
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=) rs776968811
NM_001128840.3(CACNA1D):c.5940G>C (p.Ser1980=) rs767458712
NM_001128840.3(CACNA1D):c.6162G>A (p.Lys2054=) rs876657434
NM_001134363.3(RBM20):c.1266T>C (p.Phe422=) rs727504737
NM_001134363.3(RBM20):c.1612C>T (p.Leu538=) rs876657569
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.2001T>C (p.Ala667=) rs1844780588
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.3(RBM20):c.2517T>C (p.Asp839=) rs727504467
NM_001134363.3(RBM20):c.2784G>A (p.Glu928=) rs397516609
NM_001134363.3(RBM20):c.2844T>C (p.Cys948=) rs727503389
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr) rs147356378
NM_001134363.3(RBM20):c.3451+10AC[2] rs397516615
NM_001134363.3(RBM20):c.465T>C (p.His155=) rs397516620
NM_001134363.3(RBM20):c.831C>G (p.Ala277=) rs397516624
NM_001135556.2(DYNC1I1):c.109-7C>T rs1060499856
NM_001145809.2(MYH14):c.1330-7C>T rs1455864505
NM_001145809.2(MYH14):c.1533G>A (p.Gln511=) rs727504664
NM_001145809.2(MYH14):c.1625T>G (p.Leu542Arg) rs727504564
NM_001145809.2(MYH14):c.2232+9C>T rs1335453719
NM_001145809.2(MYH14):c.33G>A (p.Arg11=) rs8106196
NM_001145809.2(MYH14):c.3987G>A (p.Gly1329=) rs876657515
NM_001145809.2(MYH14):c.4098G>A (p.Lys1366=) rs876657516
NM_001145809.2(MYH14):c.4152G>A (p.Glu1384=) rs727504965
NM_001145809.2(MYH14):c.5076C>A (p.Ala1692=) rs727503229
NM_001145809.2(MYH14):c.5268C>T (p.Ala1756=) rs919018072
NM_001145809.2(MYH14):c.590+13G>A rs727504954
NM_001145809.2(MYH14):c.5961-14T>C rs757255560
NM_001145809.2(MYH14):c.660G>A (p.Ser220=) rs201835322
NM_001145809.2(MYH14):c.66G>A (p.Glu22=) rs2032117052
NM_001146079.2(CLDN14):c.505A>G (p.Ile169Val) rs1555841637
NM_001164508.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001164508.2(NEB):c.13105C>T (p.Leu4369=) rs147579763
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.13368+11A>G rs112260335
NM_001164508.2(NEB):c.13476C>T (p.Asp4492=) rs876657541
NM_001164508.2(NEB):c.13721A>G (p.His4574Arg) rs876657542
NM_001190417.2(ZNF674):c.975_976del (p.His325_Ile326insTer) rs778073001
NM_001194.4(HCN2):c.246C>T (p.Cys82=) rs1060499863
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001195263.2(PDZD7):c.2331_2348del (p.773_774RS[3]) rs727503369
NM_001199107.2(TBC1D24):c.1410C>A (p.Ser470=) rs553497128
NM_001199107.2(TBC1D24):c.327C>T (p.Arg109=) rs754551693
NM_001199107.2(TBC1D24):c.702G>A (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.792C>T (p.Ser264=) rs769290045
NM_001199107.2(TBC1D24):c.843C>G (p.Ser281=) rs1555501311
NM_001199107.2(TBC1D24):c.867G>A (p.Ala289=) rs1328290571
NM_001199107.2(TBC1D24):c.903G>A (p.Gln301=) rs776739391
NM_001199799.2(ILDR1):c.1425C>A (p.Gly475=) rs1183661317
NM_001199799.2(ILDR1):c.255C>T (p.Gly85=) rs1553744679
NM_001199799.2(ILDR1):c.561G>A (p.Val187=) rs775815087
NM_001199799.2(ILDR1):c.661C>T (p.Arg221Cys) rs182963279
NM_001199799.2(ILDR1):c.762C>T (p.His254=) rs397516638
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu) rs150486780
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.19T>C (p.Phe7Leu) rs727502911
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001232.4(CASQ2):c.421-15C>T rs199939582
NM_001243133.2(NLRP3):c.375C>A (p.Ile125=) rs758069883
NM_001252275.3(UGT2A1):c.576T>A (p.Tyr192Ter) rs111696697
NM_001256317.3(TMPRSS3):c.333T>C (p.Gly111=) rs397517375
NM_001256317.3(TMPRSS3):c.446+9A>G rs367594676
NM_001256317.3(TMPRSS3):c.497G>A (p.Arg166Gln) rs150397427
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001256317.3(TMPRSS3):c.918C>T (p.Ala306=) rs749538864
NM_001256317.3(TMPRSS3):c.953-9T>C rs1555853318
NM_001256850.1(TTN):c.75630_75631delinsTT (p.Arg25211Cys) rs397517716
NM_001267550.2(TTN):c.10114+14C>T rs876657598
NM_001267550.2(TTN):c.101214T>C (p.Arg33738=) rs876657617
NM_001267550.2(TTN):c.102846T>A (p.Thr34282=) rs876657618
NM_001267550.2(TTN):c.104985A>G (p.Gly34995=) rs397517793
NM_001267550.2(TTN):c.104995C>T (p.Leu34999=) rs727503532
NM_001267550.2(TTN):c.105843A>T (p.Pro35281=) rs876657619
NM_001267550.2(TTN):c.10770G>A (p.Glu3590=) rs377401997
NM_001267550.2(TTN):c.11311+1079_11311+1080del rs58651353
NM_001267550.2(TTN):c.11311+1080del rs58651353
NM_001267550.2(TTN):c.11334T>C (p.Ser3778=) rs397517824
NM_001267550.2(TTN):c.12037G>A (p.Ala4013Thr) rs397517828
NM_001267550.2(TTN):c.13501A>G (p.Thr4501Ala) rs750320283
NM_001267550.2(TTN):c.13599A>G (p.Glu4533=) rs727503654
NM_001267550.2(TTN):c.1398+4C>T rs368548209
NM_001267550.2(TTN):c.14169C>T (p.Ile4723=) rs397517479
NM_001267550.2(TTN):c.14850C>G (p.Ala4950=) rs376339761
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.151C>T (p.Leu51=) rs397517489
NM_001267550.2(TTN):c.15901T>C (p.Leu5301=) rs727505349
NM_001267550.2(TTN):c.1728A>G (p.Lys576=) rs727503703
NM_001267550.2(TTN):c.18075C>T (p.Pro6025=) rs557350005
NM_001267550.2(TTN):c.18810G>A (p.Gln6270=) rs727505012
NM_001267550.2(TTN):c.19914T>C (p.Ala6638=) rs1317197263
NM_001267550.2(TTN):c.20142C>T (p.Tyr6714=) rs535793314
NM_001267550.2(TTN):c.20263G>C (p.Val6755Leu) rs876657599
NM_001267550.2(TTN):c.20367G>A (p.Pro6789=) rs368422028
NM_001267550.2(TTN):c.20736A>G (p.Leu6912=) rs876657600
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=) rs376882041
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del) rs727503701
NM_001267550.2(TTN):c.23098+15G>T rs397517503
NM_001267550.2(TTN):c.23214T>C (p.Asp7738=) rs727503648
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=) rs149523263
NM_001267550.2(TTN):c.2376G>A (p.Lys792=) rs727504854
NM_001267550.2(TTN):c.23919T>C (p.Thr7973=) rs727504974
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=) rs749823104
NM_001267550.2(TTN):c.25545T>C (p.Val8515=) rs397517515
NM_001267550.2(TTN):c.26055C>T (p.Ser8685=) rs727505250
NM_001267550.2(TTN):c.2607T>C (p.Thr869=) rs143969192
NM_001267550.2(TTN):c.26201-13C>T rs727505138
NM_001267550.2(TTN):c.2682T>C (p.Ala894=) rs727505299
NM_001267550.2(TTN):c.2761G>A (p.Gly921Arg) rs774924294
NM_001267550.2(TTN):c.27849G>A (p.Val9283=) rs397517525
NM_001267550.2(TTN):c.27886+10A>G rs397517526
NM_001267550.2(TTN):c.28641C>T (p.Asn9547=) rs727505185
NM_001267550.2(TTN):c.29238C>T (p.Phe9746=) rs727503640
NM_001267550.2(TTN):c.29604+7T>C rs727503639
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.30682+10C>T rs727505022
NM_001267550.2(TTN):c.31149G>A (p.Glu10383=) rs727504724
NM_001267550.2(TTN):c.31542T>C (p.Thr10514=) rs876657602
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.3228T>C (p.Pro1076=) rs876657604
NM_001267550.2(TTN):c.32515G>T (p.Ala10839Ser) rs727503635
NM_001267550.2(TTN):c.32703G>A (p.Glu10901=) rs397517542
NM_001267550.2(TTN):c.32954G>A (p.Arg10985Gln) rs181395238
NM_001267550.2(TTN):c.33172+15del rs559323758
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.34453+14G>A rs397517550
NM_001267550.2(TTN):c.34708+9G>T rs397517551
NM_001267550.2(TTN):c.34855+7C>T rs397517552
NM_001267550.2(TTN):c.34947A>G (p.Glu11649=) rs727504514
NM_001267550.2(TTN):c.3523+11C>G rs397517569
NM_001267550.2(TTN):c.3523+9A>C rs727503700
NM_001267550.2(TTN):c.35374C>T (p.Pro11792Ser) rs727505111
NM_001267550.2(TTN):c.39212-9C>A rs373056460
NM_001267550.2(TTN):c.39366G>A (p.Ala13122=) rs769494020
NM_001267550.2(TTN):c.39477C>T (p.Pro13159=) rs397517557
NM_001267550.2(TTN):c.39652T>C (p.Leu13218=) rs727505145
NM_001267550.2(TTN):c.40634-15_40634-11del rs375561641
NM_001267550.2(TTN):c.41253C>T (p.Ser13751=) rs772643931
NM_001267550.2(TTN):c.429A>G (p.Glu143=) rs878966869
NM_001267550.2(TTN):c.43761T>C (p.Tyr14587=) rs397517574
NM_001267550.2(TTN):c.44014+15A>C rs876657605
NM_001267550.2(TTN):c.44040C>A (p.Pro14680=) rs397517575
NM_001267550.2(TTN):c.44937T>C (p.Ala14979=) rs370413913
NM_001267550.2(TTN):c.45120T>C (p.Ile15040=) rs74580375
NM_001267550.2(TTN):c.45606G>A (p.Leu15202=) rs397517581
NM_001267550.2(TTN):c.46557T>G (p.Val15519=) rs727503626
NM_001267550.2(TTN):c.46659C>G (p.Ala15553=) rs876657606
NM_001267550.2(TTN):c.48843C>T (p.Thr16281=) rs547682223
NM_001267550.2(TTN):c.50028G>A (p.Glu16676=) rs727503621
NM_001267550.2(TTN):c.5052T>C (p.Tyr1684=) rs727503694
NM_001267550.2(TTN):c.51570T>G (p.Gly17190=) rs876657607
NM_001267550.2(TTN):c.52230C>T (p.Asp17410=) rs397517608
NM_001267550.2(TTN):c.52860A>G (p.Thr17620=) rs397517611
NM_001267550.2(TTN):c.53002+10G>T rs370352450
NM_001267550.2(TTN):c.54793G>A (p.Val18265Ile) rs397517621
NM_001267550.2(TTN):c.55728G>A (p.Pro18576=) rs727504598
NM_001267550.2(TTN):c.56679T>C (p.Val18893=) rs397517625
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=) rs148299739
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile) rs200778464
NM_001267550.2(TTN):c.57786T>C (p.Asn19262=) rs876657608
NM_001267550.2(TTN):c.58392T>C (p.Ser19464=) rs876657609
NM_001267550.2(TTN):c.58728T>C (p.Arg19576=) rs727504475
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.58902T>C (p.His19634=) rs397517639
NM_001267550.2(TTN):c.60180C>T (p.Leu20060=) rs876657610
NM_001267550.2(TTN):c.60756A>G (p.Ile20252Met) rs876657611
NM_001267550.2(TTN):c.61138C>T (p.Leu20380=) rs201167216
NM_001267550.2(TTN):c.61761A>C (p.Thr20587=) rs727505259
NM_001267550.2(TTN):c.63291T>C (p.Ile21097=) rs397517653
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val) rs370687831
NM_001267550.2(TTN):c.6375C>T (p.Tyr2125=) rs2092122331
NM_001267550.2(TTN):c.64998A>G (p.Ala21666=) rs876657612
NM_001267550.2(TTN):c.6508+14C>A rs771328770
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=) rs397517660
NM_001267550.2(TTN):c.66054G>A (p.Glu22018=) rs727503579
NM_001267550.2(TTN):c.66681A>G (p.Gln22227=) rs397517665
NM_001267550.2(TTN):c.6783T>A (p.Ile2261=) rs876657614
NM_001267550.2(TTN):c.68379T>C (p.Ala22793=) rs727503574
NM_001267550.2(TTN):c.69393C>G (p.Val23131=) rs727504692
NM_001267550.2(TTN):c.69546A>G (p.Lys23182=) rs876657613
NM_001267550.2(TTN):c.6981T>C (p.Asp2327=) rs397517709
NM_001267550.2(TTN):c.70473A>G (p.Lys23491=) rs397517685
NM_001267550.2(TTN):c.71952T>C (p.Phe23984=) rs727504881
NM_001267550.2(TTN):c.72171A>G (p.Pro24057=) rs397517692
NM_001267550.2(TTN):c.7242T>C (p.Ile2414=) rs727503689
NM_001267550.2(TTN):c.73743C>A (p.Asp24581Glu) rs727504603
NM_001267550.2(TTN):c.74181A>G (p.Val24727=) rs374889737
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.75621A>C (p.Pro25207=) rs1553603053
NM_001267550.2(TTN):c.77013T>C (p.Tyr25671=) rs397517707
NM_001267550.2(TTN):c.77772C>T (p.Thr25924=) rs727505107
NM_001267550.2(TTN):c.78711T>A (p.Ser26237=) rs727504808
NM_001267550.2(TTN):c.80562G>A (p.Lys26854=) rs397517717
NM_001267550.2(TTN):c.81612T>A (p.Gly27204=) rs397517722
NM_001267550.2(TTN):c.82446C>T (p.Thr27482=) rs768861950
NM_001267550.2(TTN):c.82605C>T (p.Thr27535=) rs772246177
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr) rs397517731
NM_001267550.2(TTN):c.87390T>A (p.Ile29130=) rs876657616
NM_001267550.2(TTN):c.88009+13C>T rs397517739
NM_001267550.2(TTN):c.8902+13_8902+14delinsGA rs1553993564
NM_001267550.2(TTN):c.90129A>G (p.Thr30043=) rs727504960
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.92467G>A (p.Gly30823Ser) rs727504934
NM_001267550.2(TTN):c.93367G>A (p.Val31123Ile) rs202096200
NM_001267550.2(TTN):c.94524T>C (p.Asp31508=) rs727505200
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=) rs572401798
NM_001267550.2(TTN):c.965G>A (p.Arg322Lys) rs144557211
NM_001267550.2(TTN):c.97191T>G (p.Leu32397=) rs397517767
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.98721C>T (p.Leu32907=) rs375361462
NM_001267550.2(TTN):c.99810C>T (p.Val33270=) rs564536939
NM_001276345.2(TNNT2):c.199+14G>A rs876657590
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=) rs140245123
NM_001276345.2(TNNT2):c.270C>T (p.Pro90=) rs140245123
NM_001276345.2(TNNT2):c.412-6_412-4del rs397516462
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) rs74315379
NM_001276345.2(TNNT2):c.719+13A>C rs563883763
NM_001277115.2(DNAH11):c.12708T>C (p.Asn4236=) rs775042712
NM_001277115.2(DNAH11):c.6437G>A (p.Arg2146His) rs727505321
NM_001286445.3(RIPOR2):c.2284A>G (p.Met762Val) rs1295551353
NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys) rs145166802
NM_001289808.2(CRYAB):c.370A>G (p.Ile124Val) rs876657444
NM_001289808.2(CRYAB):c.42C>T (p.Phe14=) rs876657445
NM_001289808.2(CRYAB):c.510C>T (p.Thr170=) rs147970333
NM_001292063.2(OTOG):c.1024C>T (p.Leu342=) rs876657550
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr) rs191354103
NM_001292063.2(OTOG):c.1455A>G (p.Thr485=) rs1554968896
NM_001292063.2(OTOG):c.1563C>G (p.Pro521=) rs749836896
NM_001292063.2(OTOG):c.16T>C (p.Ser6Pro) rs773298682
NM_001292063.2(OTOG):c.2387T>C (p.Val796Ala) rs1554970485
NM_001292063.2(OTOG):c.2487-5dup rs562652501
NM_001292063.2(OTOG):c.2832C>T (p.Phe944=) rs876657553
NM_001292063.2(OTOG):c.3939C>T (p.Ala1313=) rs1554974304
NM_001292063.2(OTOG):c.395C>T (p.Ala132Val) rs766172178
NM_001292063.2(OTOG):c.459G>T (p.Gly153=) rs1554967816
NM_001292063.2(OTOG):c.4821G>A (p.Ser1607=) rs369768224
NM_001292063.2(OTOG):c.5220A>C (p.Pro1740=) rs959286824
NM_001292063.2(OTOG):c.527G>C (p.Ser176Thr) rs876657556
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met) rs572886375
NM_001292063.2(OTOG):c.7722C>A (p.Pro2574=) rs1260956852
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His) rs766229978
NM_001292063.2(OTOG):c.8298C>A (p.Pro2766=) rs569159135
NM_001308093.3(GATA4):c.702G>A (p.Thr234=) rs55788387
NM_001317778.2(SFTPC):c.42+14C>T rs375113623
NM_001330.5(CTF1):c.102G>A (p.Ala34=) rs727504837
NM_001354604.2(MITF):c.1050G>A (p.Lys350=) rs201348324
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr) rs202020443
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001363118.2(SLC52A2):c.627T>G (p.Ala209=) rs782019841
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001368067.1(LDB3):c.324G>T (p.Val108=) rs397516556
NM_001368067.1(LDB3):c.327A>G (p.Val109=) rs876657489
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001369.3(DNAH5):c.10545A>G (p.Lys3515=) rs727502972
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.2578-10_2578-7del rs71600031
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=) rs876657454
NM_001376256.1(CRYM):c.279G>A (p.Gln93=) rs876657446
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu) rs386789728
NM_001376256.1(CRYM):c.662C>T (p.Ala221Val) rs876657447
NM_001377405.1(ATXN7):c.89AGC[12] (p.Gln38_Gln39dup) rs193922929
NM_001378454.1(ALMS1):c.10572A>G (p.Glu3524=) rs1335438080
NM_001378454.1(ALMS1):c.10869G>C (p.Leu3623=) rs775336312
NM_001378454.1(ALMS1):c.12234A>G (p.Ala4078=) rs374508659
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.384A>G (p.Thr128=) rs1671018024
NM_001378454.1(ALMS1):c.5496A>G (p.Arg1832=) rs1572936704
NM_001378454.1(ALMS1):c.5602C>A (p.Leu1868Ile) rs1553404102
NM_001378454.1(ALMS1):c.8122A>G (p.Met2708Val) rs371904071
NM_001378454.1(ALMS1):c.8160C>T (p.His2720=) rs992844961
NM_001378469.1(BRAF):c.1178-35T>C rs397516887
NM_001378609.3(OTOGL):c.1077C>T (p.Cys359=) rs876657559
NM_001378609.3(OTOGL):c.2391-12T>C rs876657560
NM_001378609.3(OTOGL):c.4312A>G (p.Met1438Val) rs1555298321
NM_001378609.3(OTOGL):c.4846C>A (p.Arg1616=) rs536538111
NM_001379180.1(ESRRB):c.312C>A (p.Ile104=) rs1555397494
NM_001384140.1(PCDH15):c.1784+11T>G rs769008985
NM_001384140.1(PCDH15):c.1998-13G>A rs727504616
NM_001384140.1(PCDH15):c.2721T>G (p.Pro907=) rs727504835
NM_001384140.1(PCDH15):c.2769T>C (p.Pro923=) rs727503366
NM_001384140.1(PCDH15):c.2859A>C (p.Ala953=) rs375965861
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.3327T>C (p.Ala1109=) rs1554871942
NM_001384140.1(PCDH15):c.3498G>A (p.Val1166=) rs1554852336
NM_001384140.1(PCDH15):c.3585T>C (p.Phe1195=) rs397517457
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.462C>T (p.Ala154=) rs1344094704
NM_001384140.1(PCDH15):c.4671+1066_4671+1068del rs1554815871
NM_001384474.1(LOXHD1):c.1134+11C>T rs727503149
NM_001384474.1(LOXHD1):c.1134+12C>G rs1555684960
NM_001384474.1(LOXHD1):c.1158T>G (p.Thr386=) rs727503148
NM_001384474.1(LOXHD1):c.1170G>A (p.Gln390=) rs876657492
NM_001384474.1(LOXHD1):c.1788A>G (p.Thr596=) rs368683058
NM_001384474.1(LOXHD1):c.1894G>A (p.Gly632Ser) rs35088381
NM_001384474.1(LOXHD1):c.2251C>A (p.Arg751=) rs376539851
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001384474.1(LOXHD1):c.3282C>T (p.Asp1094=) rs1431897813
NM_001384474.1(LOXHD1):c.4212+14T>G rs1555672903
NM_001384474.1(LOXHD1):c.4923G>A (p.Ala1641=) rs761707142
NM_001384474.1(LOXHD1):c.5070C>A (p.Ile1690=) rs1265155697
NM_001384474.1(LOXHD1):c.5911G>A (p.Asp1971Asn) rs727504544
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser) rs539278802
NM_001386795.1(DTNA):c.148+7A>G rs397517445
NM_001386795.1(DTNA):c.1744-10G>A rs192561043
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001386795.1(DTNA):c.1770C>A (p.Ser590=) rs570093404
NM_001386795.1(DTNA):c.189G>A (p.Arg63=) rs727505106
NM_001386795.1(DTNA):c.1971T>G (p.Ser657=) rs199855849
NM_001426.4(EN1):c.228A>C (p.Pro76=) rs749569923
NM_001614.5(ACTG1):c.1041C>T (p.Ala347=) rs375903517
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) rs202094234
NM_001614.5(ACTG1):c.333C>T (p.Asn111=) rs727502884
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.432C>T (p.Ala144=) rs372748659
NM_001614.5(ACTG1):c.576C>T (p.Ile192=) rs186443800
NM_001614.5(ACTG1):c.803-7C>T rs150136833
NM_001614.5(ACTG1):c.985-5dup rs782289893
NM_001614.5(ACTG1):c.996C>A (p.Pro332=) rs200089021
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001692.4(ATP6V1B1):c.904C>A (p.Arg302=) rs876657431
NM_001927.4(DES):c.114G>T (p.Ala38=) rs368901105
NM_001927.4(DES):c.1260C>T (p.Ile420=) rs397516688
NM_001927.4(DES):c.1374C>T (p.Val458=) rs727502952
NM_001927.4(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001927.4(DES):c.582G>A (p.Leu194=) rs397516696
NM_001927.4(DES):c.639+13_639+15del rs876657448
NM_001943.5(DSG2):c.1317T>C (p.Ser439=) rs727505064
NM_001943.5(DSG2):c.1724A>G (p.Asn575Ser) rs727502988
NM_001943.5(DSG2):c.2127T>C (p.His709=) rs876657457
NM_001943.5(DSG2):c.216+14_216+15del rs876657458
NM_001943.5(DSG2):c.291A>C (p.Pro97=) rs727502983
NM_001943.5(DSG2):c.3198A>G (p.Glu1066=) rs727504601
NM_001943.5(DSG2):c.474G>A (p.Val158=) rs397516708
NM_001943.5(DSG2):c.618T>A (p.Ala206=) rs397516710
NM_001943.5(DSG2):c.829-4G>A rs376424003
NM_002109.6(HARS1):c.1047A>G (p.Glu349=) rs1581504369
NM_002109.6(HARS1):c.174C>G (p.Thr58=) rs761695061
NM_002139.4(RBMX):c.891A>G (p.Thr297=) rs150079822
NM_002230.4(JUP):c.1159-13C>T rs201627219
NM_002230.4(JUP):c.1497+14G>A rs371853838
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.333T>C (p.Ile111=) rs397516742
NM_002294.3(LAMP2):c.398-7T>C rs876657483
NM_002294.3(LAMP2):c.672A>G (p.Ser224=) rs397516746
NM_002294.3(LAMP2):c.855C>T (p.Val285=) rs397516750
NM_002458.3(MUC5B):c.13124C>T (p.Ala4375Val) rs201748966
NM_002458.3(MUC5B):c.13924A>G (p.Ile4642Val) rs188444809
NM_002458.3(MUC5B):c.14491G>A (p.Ala4831Thr) rs187205469
NM_002458.3(MUC5B):c.14586T>C (p.Gly4862=) rs182667095
NM_002458.3(MUC5B):c.3198A>G (p.Ala1066=) rs79118814
NM_002458.3(MUC5B):c.845C>A (p.Ala282Glu) rs371465585
NM_002471.4(MYH6):c.1002+9G>A rs727504680
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.4(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.4(MYH6):c.3369G>A (p.Glu1123=) rs876657517
NM_002471.4(MYH6):c.4026C>T (p.Cys1342=) rs141062252
NM_002471.4(MYH6):c.4359+9T>C rs568461360
NM_002471.4(MYH6):c.732C>T (p.Arg244=) rs397516779
NM_002471.4(MYH6):c.799+14G>C rs727505139
NM_002473.6(MYH9):c.1056C>T (p.Ile352=) rs727504861
NM_002473.6(MYH9):c.1209G>A (p.Lys403=) rs2017190244
NM_002473.6(MYH9):c.1260G>C (p.Ala420=) rs369202401
NM_002473.6(MYH9):c.1843+12G>C rs150539764
NM_002473.6(MYH9):c.2037+14G>T rs727504713
NM_002473.6(MYH9):c.2766C>G (p.Ala922=) rs727503288
NM_002473.6(MYH9):c.3876C>A (p.Ser1292=) rs747334129
NM_002473.6(MYH9):c.4095+15G>A rs876657522
NM_002473.6(MYH9):c.4716C>T (p.Asp1572=) rs397516780
NM_002473.6(MYH9):c.4971C>G (p.Thr1657=) rs876657523
NM_002473.6(MYH9):c.5286C>G (p.Ile1762Met) rs1603482715
NM_002473.6(MYH9):c.5483+4C>T rs56327920
NM_002473.6(MYH9):c.5484-13G>C rs727505086
NM_002473.6(MYH9):c.5574C>T (p.Ala1858=) rs991435881
NM_002473.6(MYH9):c.5592+11T>C rs753626685
NM_002473.6(MYH9):c.5832C>T (p.Asp1944=) rs761625286
NM_002473.6(MYH9):c.952A>G (p.Met318Val) rs758951998
NM_002700.3(POU4F3):c.378G>T (p.Thr126=) rs113137300
NM_002700.3(POU4F3):c.720C>T (p.Asn240=) rs1581278744
NM_002700.3(POU4F3):c.96C>A (p.Arg32=) rs1386856370
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.292-4C>G rs771407622
NM_002755.4(MAP2K1):c.569-8C>T rs375614631
NM_002834.5(PTPN11):c.1380-4G>T rs750640531
NM_002834.5(PTPN11):c.1448-5C>T rs554790621
NM_002834.5(PTPN11):c.231G>A (p.Leu77=) rs2038063935
NM_002834.5(PTPN11):c.315A>T (p.Ala105=) rs397516804
NM_002834.5(PTPN11):c.519C>G (p.Arg173=) rs767425313
NM_002834.5(PTPN11):c.624A>G (p.Thr208=) rs864622409
NM_002834.5(PTPN11):c.831T>C (p.Asn277=) rs876657567
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002880.4(RAF1):c.-267G>A rs116247741
NM_002880.4(RAF1):c.-298C>T rs727504387
NM_002880.4(RAF1):c.1108+9_1108+21del rs727504451
NM_002880.4(RAF1):c.1314C>T (p.Thr438=) rs147547744
NM_002880.4(RAF1):c.1695T>C (p.Tyr565=) rs397516817
NM_002880.4(RAF1):c.276A>G (p.Gln92=) rs876657568
NM_002880.4(RAF1):c.834+8G>A rs727504615
NM_002880.4(RAF1):c.876C>T (p.Ala292=) rs397516831
NM_002906.4(RDX):c.1091-10T>C rs876657572
NM_002906.4(RDX):c.1176G>A (p.Glu392=) rs727505297
NM_002906.4(RDX):c.1341C>A (p.His447Gln) rs727503393
NM_002906.4(RDX):c.1410C>A (p.Pro470=) rs577555846
NM_002906.4(RDX):c.630T>C (p.Asn210=) rs1555042471
NM_002906.4(RDX):c.97-19TGT[3] rs532650829
NM_003036.4(SKI):c.1311C>G (p.Ala437=) rs140889128
NM_003068.5(SNAI2):c.606A>G (p.Gly202=) rs370952195
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.297A>G (p.Thr99=) rs727504343
NM_003280.3(TNNC1):c.387G>C (p.Thr129=) rs397516845
NM_003280.3(TNNC1):c.435C>T (p.Asp145=) rs267607124
NM_003280.3(TNNC1):c.480G>A (p.Val160=) rs727504896
NM_003476.5(CSRP3):c.219T>C (p.Tyr73=) rs397516852
NM_003476.5(CSRP3):c.334G>C (p.Ala112Pro) rs727504905
NM_003476.5(CSRP3):c.456G>A (p.Lys152=) rs397516856
NM_003476.5(CSRP3):c.508+9T>C rs727504517
NM_003664.5(AP3B1):c.1580G>A (p.Ser527Asn) rs779511911
NM_003673.4(TCAP):c.111-15dup rs397516860
NM_003673.4(TCAP):c.346C>T (p.Leu116=) rs876657586
NM_003803.4(MYOM1):c.1023-14G>A rs372359086
NM_003803.4(MYOM1):c.1340-14del rs554705715
NM_003803.4(MYOM1):c.1917C>T (p.Gly639=) rs761762328
NM_003803.4(MYOM1):c.2506+15C>G rs1272570164
NM_003803.4(MYOM1):c.2697A>C (p.Val899=) rs771666952
NM_003803.4(MYOM1):c.3683-9C>T rs1060504725
NM_003803.4(MYOM1):c.5045dup (p.Lys1683fs) rs573184538
NM_004004.5(GJB2):c.[79G>A;341A>G]
NM_004004.6(GJB2):c.300T>C (p.His100=) rs1317569039
NM_004004.6(GJB2):c.384C>T (p.Ile128=) rs111033298
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly) rs397516876
NM_004006.3(DMD):c.2569C>T (p.Pro857Ser) rs552275776
NM_004006.3(DMD):c.2827C>A (p.Arg943Ser) rs199986217
NM_004006.3(DMD):c.7464G>A (p.Leu2488=) rs1603464003
NM_004006.3(DMD):c.7653G>A (p.Thr2551=) rs368803197
NM_004006.3(DMD):c.9564-6T>C rs876657453
NM_004086.3(COCH):c.239+7C>G rs377273539
NM_004086.3(COCH):c.239+80del rs111033189
NM_004100.5(EYA4):c.1563G>A (p.Leu521=) rs1583528788
NM_004100.5(EYA4):c.237A>G (p.Ala79=) rs727504840
NM_004100.5(EYA4):c.744A>G (p.Ser248=) rs397516879
NM_004230.4(S1PR2):c.1032C>T (p.Pro344=) rs561751764
NM_004281.4(BAG3):c.111C>T (p.Pro37=) rs397516880
NM_004281.4(BAG3):c.1344C>T (p.Asp448=) rs727504796
NM_004281.4(BAG3):c.180+13C>T rs727504938
NM_004316.4(ASCL1):c.151CAG[11] (p.Gln62del) rs3832799
NM_004316.4(ASCL1):c.151CAG[14] (p.Gln62_Ala63insGlnGln) rs3832799
NM_004333.6(BRAF):c.111G>A (p.Ser37=) rs727502906
NM_004333.6(BRAF):c.1203C>T (p.Thr401=) rs370130654
NM_004333.6(BRAF):c.1960T>C (p.Leu654=) rs727502905
NM_004333.6(BRAF):c.1993-11dup rs759069424
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2128-6T>A rs397516900
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2]) rs397507458
NM_004393.6(DAG1):c.2214C>T (p.Asp738=) rs754599980
NM_004415.3(DSP):c.8487_8498del12 rs727504704
NM_004415.4(DSP):c.111C>A (p.Thr37=) rs727502995
NM_004415.4(DSP):c.1263G>A (p.Leu421=) rs727504492
NM_004415.4(DSP):c.1266+6G>T rs73375345
NM_004415.4(DSP):c.1527G>T (p.Gly509=) rs397516917
NM_004415.4(DSP):c.1680C>T (p.Ile560=) rs397516920
NM_004415.4(DSP):c.3276G>C (p.Ser1092=) rs202057409
NM_004415.4(DSP):c.3948T>C (p.Ala1316=) rs1554108219
NM_004415.4(DSP):c.4245T>A (p.Thr1415=) rs397516936
NM_004415.4(DSP):c.4371G>A (p.Met1457Ile) rs1169630255
NM_004415.4(DSP):c.4455G>C (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.4515G>A (p.Ala1505=) rs193197554
NM_004415.4(DSP):c.4899C>G (p.Leu1633=) rs876657459
NM_004415.4(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.4(DSP):c.6654C>G (p.Thr2218=) rs727503005
NM_004415.4(DSP):c.7275C>G (p.Thr2425=) rs727503006
NM_004415.4(DSP):c.741G>T (p.Ala247=) rs2806234
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.4(DSP):c.7998C>G (p.Gly2666=) rs397516960
NM_004415.4(DSP):c.8320C>T (p.Leu2774=) rs397516964
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4]) rs397516967
NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4]) rs397516968
NM_004415.4(DSP):c.8493G>A (p.Ser2831=) rs397516969
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4]) rs397516971
NM_004415.4(DSP):c.8553C>T (p.Asp2851=) rs1554109307
NM_004415.4(DSP):c.939+13dup rs730880360
NM_004447.6(EPS8):c.2226-3del rs35885542
NM_004447.6(EPS8):c.525A>G (p.Leu175=) rs1945713991
NM_004568.6(SERPINB6):c.343C>G (p.Gln115Glu) rs397516637
NM_004568.6(SERPINB6):c.941A>G (p.Lys314Arg) rs876657582
NM_004577.4(PSPH):c.275+1del rs139106189
NM_004612.4(TGFBR1):c.1387-4G>A rs397517031
NM_004700.4(KCNQ4):c.1042-11dup rs876657480
NM_004700.4(KCNQ4):c.1130+13G>T rs1553167606
NM_004700.4(KCNQ4):c.699G>C (p.Ala233=) rs727504788
NM_004700.4(KCNQ4):c.720C>G (p.Thr240=) rs752131356
NM_004700.4(KCNQ4):c.834+12T>C rs1031548085
NM_004817.4(TJP2):c.1521-7A>C rs373242928
NM_004817.4(TJP2):c.2819C>T (p.Pro940Leu) rs199852211
NM_004817.4(TJP2):c.2865G>A (p.Pro955=) rs727503480
NM_004949.5(DSC2):c.630+8_630+10delinsTT rs397517401
NM_004985.5(KRAS):c.-163AGC[3] rs397517034
NM_004985.5(KRAS):c.-167A>G rs527326817
NM_004985.5(KRAS):c.-54C>T rs397517036
NM_004985.5(KRAS):c.33T>C (p.Ala11=) rs397517039
NM_004985.5(KRAS):c.450+11C>G rs727504633
NM_004985.5(KRAS):c.451-10T>C rs876657481
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del) rs397517043
NM_004999.4(MYO6):c.1473+10A>G rs876657531
NM_004999.4(MYO6):c.1695G>C (p.Leu565=) rs111033501
NM_004999.4(MYO6):c.2170G>C (p.Asp724His) rs397517046
NM_004999.4(MYO6):c.2733T>C (p.Ser911=) rs1554218577
NM_004999.4(MYO6):c.2972G>A (p.Arg991Gln) rs529167250
NM_004999.4(MYO6):c.3207T>C (p.Ala1069=) rs727505051
NM_004999.4(MYO6):c.3270T>C (p.Asn1090=) rs139395133
NM_004999.4(MYO6):c.951T>C (p.Phe317=) rs397517055
NM_005159.5(ACTC1):c.1053G>A (p.Leu351=) rs151321743
NM_005159.5(ACTC1):c.516T>C (p.Ala172=) rs397517064
NM_005159.5(ACTC1):c.616+8T>C rs397517066
NM_005159.5(ACTC1):c.798C>T (p.Pro266=) rs397517068
NM_005159.5(ACTC1):c.918T>A (p.Thr306=) rs397517074
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005188.4(CBL):c.1228-10dup rs397517078
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005188.4(CBL):c.1962A>G (p.Leu654=) rs727502915
NM_005219.5(DIAPH1):c.1047C>T (p.Asp349=) rs1554208916
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1854A>T (p.Pro618=) rs374236039
NM_005219.5(DIAPH1):c.2373C>T (p.Asp791=) rs756608855
NM_005219.5(DIAPH1):c.3237C>T (p.Ala1079=) rs777308371
NM_005219.5(DIAPH1):c.621-7T>C rs727502963
NM_005228.5(EGFR):c.2166G>C (p.Ala722=) rs367694667
NM_005228.5(EGFR):c.2232C>T (p.Ile744=) rs397517093
NM_005228.5(EGFR):c.2310C>T (p.Asp770=) rs397517110
NM_005228.5(EGFR):c.2340C>T (p.Ile780=) rs397517121
NM_005228.5(EGFR):c.2349C>T (p.Thr783=) rs397517122
NM_005228.5(EGFR):c.2409G>A (p.Arg803=) rs397517123
NM_005228.5(EGFR):c.2439C>T (p.Tyr813=) rs397517124
NM_005228.5(EGFR):c.2598G>A (p.Glu866=) rs397517133
NM_005228.5(EGFR):c.2625+6G>T rs397517135
NM_005228.5(EGFR):c.2775C>T (p.Ser925=) rs727504306
NM_005379.4(MYO1A):c.1882C>G (p.Arg628Gly) rs151187460
NM_005379.4(MYO1A):c.2238C>G (p.Ser746=) rs140932379
NM_005379.4(MYO1A):c.2238C>T (p.Ser746=) rs140932379
NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg) rs370617353
NM_005422.4(TECTA):c.2134G>C (p.Val712Leu) rs876657587
NM_005422.4(TECTA):c.2199C>G (p.Ser733=) rs397517145
NM_005422.4(TECTA):c.2271G>A (p.Lys757=) rs369114054
NM_005422.4(TECTA):c.2308C>A (p.Arg770=) rs727503458
NM_005422.4(TECTA):c.2740A>G (p.Ile914Val) rs1303790601
NM_005422.4(TECTA):c.3375C>T (p.Ile1125=) rs1946747020
NM_005422.4(TECTA):c.3898C>T (p.Leu1300=) rs527881617
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105
NM_005422.4(TECTA):c.4263G>A (p.Leu1421=) rs563775304
NM_005422.4(TECTA):c.4690-15T>C rs727505055
NM_005422.4(TECTA):c.5955C>A (p.Thr1985=) rs727503466
NM_005422.4(TECTA):c.888G>A (p.Glu296=) rs876657588
NM_005422.4(TECTA):c.90A>T (p.Pro30=) rs577470721
NM_005548.3(KARS1):c.159T>A (p.Ala53=) rs1555513622
NM_005633.3(SOS1):c.2511-9dup rs727503436
NM_005633.4(SOS1):c.2061G>A (p.Leu687=) rs727504752
NM_005633.4(SOS1):c.21C>T (p.Pro7=) rs727504845
NM_005633.4(SOS1):c.2775A>T (p.Pro925=) rs397517160
NM_005633.4(SOS1):c.3369A>G (p.Gln1123=) rs727503435
NM_005633.4(SOS1):c.3600C>T (p.Asp1200=) rs141594736
NM_005633.4(SOS1):c.588A>T (p.Ser196=) rs727504826
NM_005633.4(SOS1):c.597A>G (p.Gln199=) rs397517175
NM_006005.3(WFS1):c.1194C>A (p.Gly398=) rs143633587
NM_006005.3(WFS1):c.1261A>G (p.Ile421Val) rs727503749
NM_006005.3(WFS1):c.128C>T (p.Ala43Val) rs727503746
NM_006005.3(WFS1):c.1294C>T (p.Leu432=) rs35031397
NM_006005.3(WFS1):c.1674C>G (p.Arg558=) rs61735402
NM_006005.3(WFS1):c.1740G>A (p.Val580=) rs749882923
NM_006005.3(WFS1):c.2369C>G (p.Ser790Trp) rs369107336
NM_006005.3(WFS1):c.2370G>C (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2575C>A (p.Arg859=) rs372298367
NM_006005.3(WFS1):c.2580C>T (p.His860=) rs754802246
NM_006005.3(WFS1):c.630C>T (p.His210=) rs144851092
NM_006005.3(WFS1):c.654C>T (p.Pro218=) rs727504666
NM_006005.3(WFS1):c.831G>A (p.Lys277=) rs532368033
NM_006005.3(WFS1):c.996C>T (p.Ile332=) rs138674328
NM_006012.4(CLPP):c.-7_-6insCC rs545353866
NM_006012.4(CLPP):c.684C>T (p.Arg228=) rs876657442
NM_006073.4(TRDN):c.1511-14T>C rs1252673540
NM_006073.4(TRDN):c.1597+10G>A rs150165710
NM_006284.4(TAF10):c.*1756C>T rs876657478
NM_006393.3(NEBL):c.1269A>G (p.Lys423=) rs138932199
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006393.3(NEBL):c.2055+7C>A rs368793318
NM_006393.3(NEBL):c.2475C>T (p.His825=) rs727503334
NM_006393.3(NEBL):c.255T>C (p.Ser85=) rs727504471
NM_006393.3(NEBL):c.2748G>T (p.Pro916=) rs778128527
NM_006393.3(NEBL):c.480+10C>A rs377230358
NM_007078.3(LDB3):c.1041C>T (p.Ser347=) rs45555240
NM_007078.3(LDB3):c.1167C>T (p.Ala389=) rs768844187
NM_007078.3(LDB3):c.1317C>T (p.Pro439=) rs397517208
NM_007078.3(LDB3):c.144C>T (p.Leu48=) rs397517213
NM_007078.3(LDB3):c.600C>T (p.Gly200=) rs397517225
NM_007078.3(LDB3):c.690-4842G>T rs113445294
NM_007078.3(LDB3):c.896+6669TC[11] rs71019410
NM_007078.3(LDB3):c.896+6669TC[12] rs71019410
NM_007078.3(LDB3):c.93+7G>T rs397517229
NM_007373.4(SHOC2):c.-66A>G rs397517230
NM_012144.4(DNAI1):c.1611C>T (p.Asp537=) rs199502666
NM_012144.4(DNAI1):c.2002-5C>T rs1587096958
NM_012208.4(HARS2):c.1439G>T (p.Arg480Leu) rs200089613
NM_012208.4(HARS2):c.732+8_732+11del rs766254601
NM_012208.4(HARS2):c.975G>C (p.Leu325=) rs756782773
NM_013296.5(GPSM2):c.1063-4G>C rs1570914167
NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del) rs145997327
NM_013296.5(GPSM2):c.624T>C (p.Leu208=) rs1553211657
NM_013296.5(GPSM2):c.732A>G (p.Ala244=) rs1553211713
NM_014000.3(VCL):c.1017T>C (p.Arg339=) rs876657632
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) rs200342284
NM_014000.3(VCL):c.1275T>C (p.Pro425=) rs397517233
NM_014000.3(VCL):c.1337C>G (p.Ala446Gly) rs727504675
NM_014000.3(VCL):c.168+9G>T rs997516030
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014000.3(VCL):c.874+9C>G rs756064535
NM_014391.3(ANKRD1):c.145C>T (p.Leu49=) rs1554827991
NM_014391.3(ANKRD1):c.154C>T (p.Pro52Ser) rs397517248
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-18_346-9del rs727502890
NM_014908.4(DOLK):c.1035A>G (p.Val345=) rs876657455
NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg) rs574562542
NM_014908.4(DOLK):c.294G>A (p.Arg98=) rs876657456
NM_015340.4(LARS2):c.1530G>A (p.Lys510=) rs752585512
NM_015340.4(LARS2):c.1938C>T (p.Asn646=) rs138012553
NM_015340.4(LARS2):c.2112G>A (p.Glu704=) rs876657486
NM_015340.4(LARS2):c.2292+8G>T rs876657488
NM_015340.4(LARS2):c.879C>T (p.Gly293=) rs368510008
NM_015340.4(LARS2):c.945G>A (p.Ser315=) rs145135580
NM_015404.4(WHRN):c.1158C>G (p.Asn386Lys) rs397517253
NM_015404.4(WHRN):c.1251C>T (p.Ser417=) rs1554719002
NM_015404.4(WHRN):c.1542G>A (p.Gly514=) rs397517257
NM_015404.4(WHRN):c.1626+9C>A rs727504908
NM_015404.4(WHRN):c.1824G>A (p.Gln608=) rs755074681
NM_015404.4(WHRN):c.2333G>A (p.Arg778Gln) rs727505188
NM_015404.4(WHRN):c.2455G>A (p.Val819Met) rs1589057203
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys) rs150586098
NM_015404.4(WHRN):c.427T>C (p.Leu143=) rs727502956
NM_015404.4(WHRN):c.744G>A (p.Ser248=) rs397517259
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_016203.4(PRKAG2):c.1449T>C (p.Ala483=) rs148632949
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.618G>T (p.Pro206=) rs145827515
NM_016203.4(PRKAG2):c.685-8C>T rs397517279
NM_016203.4(PRKAG2):c.720C>G (p.Ala240=) rs752351250
NM_016203.4(PRKAG2):c.807G>A (p.Lys269=) rs727504618
NM_016203.4(PRKAG2):c.837G>A (p.Lys279=) rs876657566
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_016203.4(PRKAG2):c.946+13G>C rs727505059
NM_016203.4(PRKAG2):c.993T>C (p.Tyr331=) rs397517284
NM_016239.4(MYO15A):c.1149C>T (p.Gly383=) rs746937331
NM_016239.4(MYO15A):c.3122C>A (p.Pro1041His) rs200587502
NM_016239.4(MYO15A):c.3386G>A (p.Arg1129Gln) rs1463824476
NM_016239.4(MYO15A):c.3498C>T (p.Pro1166=) rs747533694
NM_016239.4(MYO15A):c.3866+12G>T rs533500962
NM_016239.4(MYO15A):c.4038+7_4038+8del rs1555542172
NM_016239.4(MYO15A):c.4039-15C>T rs727503308
NM_016239.4(MYO15A):c.5007+15C>G rs891826719
NM_016239.4(MYO15A):c.5217G>A (p.Val1739=) rs2046358921
NM_016239.4(MYO15A):c.5958G>A (p.Glu1986=) rs727504916
NM_016239.4(MYO15A):c.6932C>A (p.Ala2311Glu) rs727503314
NM_016239.4(MYO15A):c.7254G>A (p.Gly2418=) rs1265909514
NM_016239.4(MYO15A):c.7431G>A (p.Gln2477=) rs876657527
NM_016239.4(MYO15A):c.7833G>A (p.Glu2611=) rs727504816
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser) rs200355614
NM_016239.4(MYO15A):c.8907C>T (p.Ala2969=) rs727504611
NM_016239.4(MYO15A):c.9123C>G (p.Ser3041=) rs876657528
NM_016239.4(MYO15A):c.9741C>A (p.Arg3247=) rs752368160
NM_016239.4(MYO15A):c.9948+11G>A rs200712715
NM_016366.3(CABP2):c.60C>G (p.Leu20=) rs950724245
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser) rs397517289
NM_016599.5(MYOZ2):c.84T>C (p.Asp28=) rs397517292
NM_017433.5(MYO3A):c.1029A>G (p.Leu343=) rs544012938
NM_017433.5(MYO3A):c.1038A>G (p.Leu346=) rs727505229
NM_017433.5(MYO3A):c.1080G>A (p.Lys360=) rs397517293
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.2625G>C (p.Leu875=) rs371741845
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=) rs372169216
NM_017433.5(MYO3A):c.3842T>G (p.Phe1281Cys) rs876657529
NM_017433.5(MYO3A):c.4088G>A (p.Arg1363Lys) rs876657530
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=) rs200154414
NM_017950.4(CCDC40):c.83A>G (p.Glu28Gly) rs1555889343
NM_018139.3(DNAAF2):c.2212A>G (p.Met738Val) rs727502965
NM_020297.4(ABCC9):c.1012-14del rs727505105
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.3474-14C>T rs876657429
NM_020297.4(ABCC9):c.420T>C (p.Tyr140=) rs397517189
NM_020297.4(ABCC9):c.817-7del rs193922684
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_021167.5(GATAD1):c.435+15_435+16del rs876657464
NM_021167.5(GATAD1):c.436-13del rs876657465
NM_021167.5(GATAD1):c.492G>A (p.Lys164=) rs397517295
NM_022081.6(HPS4):c.1386C>G (p.Pro462=) rs2087976511
NM_022081.6(HPS4):c.320G>T (p.Arg107Leu) rs138885334
NM_022114.4(PRDM16):c.-14C>A rs180925565
NM_022114.4(PRDM16):c.1983C>T (p.Ser661=) rs764211215
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro) rs371654192
NM_022114.4(PRDM16):c.3109+12G>C rs200643126
NM_022124.6(CDH23):c.-45AGGCG[2] rs71012280
NM_022124.6(CDH23):c.-45AGGCG[4] rs71012280
NM_022124.6(CDH23):c.1089C>T (p.Val363=) rs556135873
NM_022124.6(CDH23):c.1956C>T (p.Asn652=) rs876657436
NM_022124.6(CDH23):c.2149A>G (p.Thr717Ala) rs397517314
NM_022124.6(CDH23):c.2193G>C (p.Thr731=) rs397517315
NM_022124.6(CDH23):c.2289+11_2289+12delinsCT rs876657438
NM_022124.6(CDH23):c.2691C>T (p.Ala897=) rs1452389958
NM_022124.6(CDH23):c.3162C>G (p.Thr1054=) rs377259987
NM_022124.6(CDH23):c.3486G>T (p.Gly1162=) rs397517324
NM_022124.6(CDH23):c.4276G>A (p.Val1426Ile) rs727505099
NM_022124.6(CDH23):c.4282A>G (p.Ile1428Val) rs747559330
NM_022124.6(CDH23):c.429+9C>A rs727505270
NM_022124.6(CDH23):c.4359+11G>T rs12242607
NM_022124.6(CDH23):c.4902C>T (p.Phe1634=) rs565823145
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5200G>A (p.Val1734Met) rs397517335
NM_022124.6(CDH23):c.5712+9T>C rs727504996
NM_022124.6(CDH23):c.572G>A (p.Arg191Gln) rs372588663
NM_022124.6(CDH23):c.5988C>T (p.Ala1996=) rs751701083
NM_022124.6(CDH23):c.6786C>T (p.Asp2262=) rs876657440
NM_022124.6(CDH23):c.6846C>T (p.Asn2282=) rs727502929
NM_022124.6(CDH23):c.6927C>T (p.Ala2309=) rs765133274
NM_022124.6(CDH23):c.7056G>A (p.Gly2352=) rs1589428423
NM_022124.6(CDH23):c.7161T>C (p.Pro2387=) rs727504990
NM_022124.6(CDH23):c.7671T>C (p.His2557=) rs1408981265
NM_022124.6(CDH23):c.7806C>T (p.Ile2602=) rs1554876358
NM_022124.6(CDH23):c.8574C>T (p.Asp2858=) rs572176102
NM_022124.6(CDH23):c.8723-4G>A rs397517360
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del) rs727503069
NM_024334.3(TMEM43):c.147A>G (p.Leu49=) rs727504629
NM_024334.3(TMEM43):c.297+13G>A rs397517381
NM_024334.3(TMEM43):c.399C>T (p.Tyr133=) rs876657589
NM_024334.3(TMEM43):c.51T>G (p.Val17=) rs397517383
NM_024422.6(DSC2):c.70-11del rs572309510
NM_024422.6(DSC2):c.702G>A (p.Glu234=) rs397517402
NM_024422.6(DSC2):c.942+16A>T rs111347888
NM_024747.6(HPS6):c.150G>A (p.Gly50=) rs727503091
NM_030662.4(MAP2K2):c.-27CCG[6] rs397517411
NM_030662.4(MAP2K2):c.174C>T (p.Leu58=) rs876657504
NM_030662.4(MAP2K2):c.49A>G (p.Thr17Ala) rs397517415
NM_030662.4(MAP2K2):c.564C>T (p.His188=) rs546749336
NM_030662.4(MAP2K2):c.658A>G (p.Ile220Val) rs727504363
NM_030662.4(MAP2K2):c.705+11G>A rs202086678
NM_030662.4(MAP2K2):c.834C>A (p.Ile278=) rs766540227
NM_031475.3(ESPN):c.1049C>G (p.Pro350Arg) rs143645714
NM_031475.3(ESPN):c.1192+8T>C rs876657461
NM_031475.3(ESPN):c.2253C>G (p.Pro751=) rs371034506
NM_031475.3(ESPN):c.2253C>T (p.Pro751=) rs371034506
NM_031475.3(ESPN):c.2502G>A (p.Glu834=) rs1644131182
NM_032119.4(ADGRV1):c.10161+9C>A rs537317888
NM_032119.4(ADGRV1):c.10214G>A (p.Arg3405Gln) rs727504728
NM_032119.4(ADGRV1):c.1049C>A (p.Thr350Asn) rs727504607
NM_032119.4(ADGRV1):c.12121-13T>C rs727503079
NM_032119.4(ADGRV1):c.12654T>C (p.Ile4218=) rs876657470
NM_032119.4(ADGRV1):c.12989G>A (p.Arg4330Lys) rs532605331
NM_032119.4(ADGRV1):c.13364G>A (p.Ser4455Asn) rs727503081
NM_032119.4(ADGRV1):c.13714A>T (p.Ile4572Phe) rs727503082
NM_032119.4(ADGRV1):c.14043+8T>C rs727503083
NM_032119.4(ADGRV1):c.14427A>G (p.Glu4809=) rs727504605
NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu) rs201747452
NM_032119.4(ADGRV1):c.15855A>G (p.Leu5285=) rs727505154
NM_032119.4(ADGRV1):c.15G>C (p.Leu5=) rs973537840
NM_032119.4(ADGRV1):c.16098C>T (p.Gly5366=) rs876657471
NM_032119.4(ADGRV1):c.1623T>C (p.Phe541=) rs1580513065
NM_032119.4(ADGRV1):c.16845C>A (p.Ala5615=) rs1765358320
NM_032119.4(ADGRV1):c.17184T>C (p.Thr5728=) rs727503085
NM_032119.4(ADGRV1):c.18195T>C (p.Ala6065=) rs542501546
NM_032119.4(ADGRV1):c.2292A>G (p.Leu764=) rs1580561562
NM_032119.4(ADGRV1):c.5337T>C (p.Phe1779=) rs755537414
NM_032119.4(ADGRV1):c.5460G>A (p.Arg1820=) rs876657473
NM_032119.4(ADGRV1):c.5568C>T (p.Ala1856=) rs727504772
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His) rs41303352
NM_032119.4(ADGRV1):c.6382C>A (p.Arg2128=) rs727504561
NM_032119.4(ADGRV1):c.640G>A (p.Val214Ile) rs876657474
NM_032119.4(ADGRV1):c.6648G>T (p.Gly2216=) rs767618412
NM_032119.4(ADGRV1):c.7176C>G (p.Ser2392=) rs111033452
NM_032119.4(ADGRV1):c.8091C>T (p.Ala2697=) rs556164327
NM_032119.4(ADGRV1):c.8127A>G (p.Thr2709=) rs1469847535
NM_032119.4(ADGRV1):c.8198G>T (p.Arg2733Leu) rs749383906
NM_032119.4(ADGRV1):c.8300C>T (p.Thr2767Ile) rs1554088550
NM_032119.4(ADGRV1):c.9255C>G (p.Phe3085Leu) rs727503077
NM_032229.3(SLITRK6):c.769A>G (p.Ile257Val) rs1874698672
NM_032578.4(MYPN):c.2028A>G (p.Gln676=) rs876657537
NM_033056.4(PCDH15):c.4463A>G (p.Asn1488Ser) rs201534861
NM_033056.4(PCDH15):c.4568G>A (p.Ser1523Asn) rs1377421029
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del) rs1554820012
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del) rs397517467
NM_033056.4(PCDH15):c.5346T>A (p.Ser1782=) rs397517468
NM_033056.4(PCDH15):c.5349T>G (p.Pro1783=) rs727505113
NM_033056.4(PCDH15):c.5352T>A (p.Pro1784=) rs727505100
NM_033056.4(PCDH15):c.5424A>C (p.Pro1808=) rs753289924
NM_033118.4(MYLK2):c.1659C>G (p.Arg553=) rs727504624
NM_033118.4(MYLK2):c.254G>A (p.Gly85Glu) rs727505328
NM_033118.4(MYLK2):c.340G>A (p.Glu114Lys) rs727503303
NM_033380.3(COL4A5):c.2109C>T (p.Ile703=) rs369092053
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly) rs768580195
NM_033409.4(SLC52A3):c.*13C>A rs768028308
NM_033409.4(SLC52A3):c.1263G>T (p.Leu421=) rs1599955750
NM_033409.4(SLC52A3):c.63T>C (p.Asn21=) rs574008733
NM_057176.3(BSND):c.810C>T (p.Tyr270=) rs1451582678
NM_057176.3(BSND):c.951C>A (p.Asp317Glu) rs876657432
NM_080680.3(COL11A2):c.2529+13del rs763299239
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.2629-15dup rs727502942
NM_080680.3(COL11A2):c.3531A>G (p.Gly1177=) rs530771165
NM_080680.3(COL11A2):c.799-13C>T rs876657443
NM_080680.3(COL11A2):c.799-4C>A rs111227109
NM_080680.3(COL11A2):c.966C>A (p.Pro322=) rs147527758
NM_133261.3(GIPC3):c.381G>A (p.Thr127=) rs766652884
NM_133261.3(GIPC3):c.576G>A (p.Gln192=) rs727504632
NM_133261.3(GIPC3):c.66C>T (p.Pro22=) rs1269578352
NM_133261.3(GIPC3):c.69G>A (p.Ala23=) rs150473323
NM_133261.3(GIPC3):c.69G>C (p.Ala23=) rs150473323
NM_133261.3(GIPC3):c.787+5G>C rs876657816
NM_133261.3(GIPC3):c.821C>T (p.Ala274Val) rs149028750
NM_133338.3(RAD17):c.1593A>G (p.Ala531=) rs1060499892
NM_133379.5(TTN):c.11925G>A (p.Val3975=) rs562072193
NM_133379.5(TTN):c.13221G>A (p.Lys4407=) rs529300203
NM_133379.5(TTN):c.14493C>T (p.Cys4831=) rs876657620
NM_133379.5(TTN):c.14688T>C (p.Thr4896=) rs727503666
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6]) rs397517815
NM_133379.5(TTN):c.15606C>T (p.Phe5202=) rs138122578
NM_133379.5(TTN):c.15660A>G (p.Lys5220=) rs876657621
NM_133379.5(TTN):c.16584T>C (p.Gly5528=) rs876657622
NM_138691.3(TMC1):c.1567-4A>G rs369562300
NM_138691.3(TMC1):c.951C>G (p.Val317=) rs1588083627
NM_144573.4(NEXN):c.1773A>G (p.Thr591=) rs727503345
NM_144573.4(NEXN):c.1887A>G (p.Gln629=) rs727503346
NM_144573.4(NEXN):c.299-14del rs397517855
NM_144672.4(OTOA):c.1104+12G>C rs143853515
NM_144672.4(OTOA):c.1105-10C>T rs727503349
NM_144672.4(OTOA):c.1500G>C (p.Ala500=) rs199908646
NM_147196.3(TMIE):c.123G>A (p.Pro41=) rs765221463
NM_147196.3(TMIE):c.388_391delinsG (p.Lys130_Lys131delinsGlu) rs397517868
NM_147196.3(TMIE):c.390G>A (p.Lys130=) rs1472645388
NM_152559.3(METTL27):c.389-13CA[7] rs375025208
NM_152594.3(SPRED1):c.1110C>G (p.Leu370=) rs876657584
NM_153676.4(USH1C):c.1413+13C>T rs876657623
NM_153676.4(USH1C):c.1548G>C (p.Pro516=) rs780428813
NM_153676.4(USH1C):c.1767C>T (p.Ser589=) rs770217616
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.2046C>T (p.Gly682=) rs1554955894
NM_153676.4(USH1C):c.248+7_248+20del rs749047869
NM_153676.4(USH1C):c.264G>A (p.Val88=) rs397517879
NM_153676.4(USH1C):c.2655+12G>A rs727504552
NM_153676.4(USH1C):c.7C>A (p.Arg3=) rs876657624
NM_153676.4(USH1C):c.909G>T (p.Arg303=) rs1850478673
NM_153700.2(STRC):c.2016A>G (p.Leu672=) rs62018893
NM_153700.2(STRC):c.2172T>C (p.Val724=) rs1308469405
NM_153700.2(STRC):c.3681+11G>A rs796781098
NM_153700.2(STRC):c.4077G>A (p.Glu1359=) rs1555447174
NM_153700.2(STRC):c.4702-3del rs371263304
NM_153700.2(STRC):c.694A>G (p.Lys232Glu) rs876657585
NM_170682.4(P2RX2):c.1257A>C (p.Ser419=) rs876657561
NM_170682.4(P2RX2):c.457+9G>A rs200457240
NM_170707.4(LMNA):c.1122C>T (p.His374=) rs143715750
NM_170707.4(LMNA):c.1242C>T (p.Ser414=) rs184946451
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1770C>G (p.Thr590=) rs397517896
NM_170707.4(LMNA):c.198T>C (p.Ser66=) rs397517899
NM_170707.4(LMNA):c.261T>C (p.Asp87=) rs397517900
NM_170707.4(LMNA):c.346C>T (p.Leu116=) rs876657491
NM_170707.4(LMNA):c.486G>A (p.Leu162=) rs727503135
NM_170707.4(LMNA):c.810+13G>A rs11264444
NM_173477.5(USH1G):c.594C>T (p.His198=) rs727503713
NM_173477.5(USH1G):c.84C>T (p.Pro28=) rs397517929
NM_174878.3(CLRN1):c.243T>C (p.Phe81=) rs397517931
NM_178335.3(CCDC50):c.1231C>T (p.Pro411Ser) rs138707536
NM_178335.3(CCDC50):c.749A>G (p.Glu250Gly) rs727502916
NM_178425.4(HDAC9):c.2286C>T (p.Ile762=) rs1060499865
NM_178452.6(DNAAF1):c.864-17_864-14del rs141073777
NM_181458.4(PAX3):c.378G>A (p.Pro126=) rs553884686
NM_181458.4(PAX3):c.508G>A (p.Ala170Thr) rs1553592728
NM_182548.4(LHFPL5):c.525C>A (p.Ile175=) rs557741915
NM_194248.3(OTOF):c.1205+3G>A rs727503360
NM_194248.3(OTOF):c.1365C>T (p.Tyr455=) rs572162678
NM_194248.3(OTOF):c.1413G>A (p.Lys471=) rs769723512
NM_194248.3(OTOF):c.1446C>T (p.Val482=) rs749138873
NM_194248.3(OTOF):c.1803+11A>G rs372583354
NM_194248.3(OTOF):c.2037C>T (p.Ala679=) rs397517937
NM_194248.3(OTOF):c.2074C>A (p.Arg692=) rs765368301
NM_194248.3(OTOF):c.2215-16C>T rs752279476
NM_194248.3(OTOF):c.2316-4C>A rs727503358
NM_194248.3(OTOF):c.3288+8T>C rs876657549
NM_194248.3(OTOF):c.3303G>A (p.Gly1101=) rs727505304
NM_194248.3(OTOF):c.3363C>T (p.Pro1121=) rs745957247
NM_194248.3(OTOF):c.3507G>A (p.Ser1169=) rs111033513
NM_194248.3(OTOF):c.3628C>A (p.Arg1210=) rs397517945
NM_194248.3(OTOF):c.3870T>C (p.Ser1290=) rs777658929
NM_194248.3(OTOF):c.4290C>T (p.Asn1430=) rs566846495
NM_194248.3(OTOF):c.4401C>T (p.Asp1467=) rs138500783
NM_194248.3(OTOF):c.4878C>T (p.Asp1626=) rs397517947
NM_194248.3(OTOF):c.4995G>C (p.Leu1665=) rs111033371
NM_194248.3(OTOF):c.5817G>T (p.Arg1939=) rs397517950
NM_194248.3(OTOF):c.5868C>T (p.Tyr1956=) rs727504937
NM_194248.3(OTOF):c.5922G>A (p.Leu1974=) rs111033372
NM_194248.3(OTOF):c.780G>A (p.Val260=) rs151306930
NM_194248.3(OTOF):c.97C>A (p.Arg33=) rs150867836
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198999.3(SLC26A5):c.89A>G (p.Glu30Gly) rs727504456
NM_199242.3(UNC13D):c.2340C>G (p.Gly780=) rs556654678
NM_203447.4(DOCK8):c.5481T>C (p.His1827=) rs1554708887
NM_206883.2(SLC26A5):c.292+8_292+9dup rs112791865
NM_206933.4(USH2A):c.10224A>G (p.Glu3408=) rs1553261931
NM_206933.4(USH2A):c.1027T>G (p.Ser343Ala) rs397517965
NM_206933.4(USH2A):c.10398C>G (p.Leu3466=) rs563370514
NM_206933.4(USH2A):c.10656T>C (p.Ser3552=) rs727503719
NM_206933.4(USH2A):c.10740+7G>C rs201206110
NM_206933.4(USH2A):c.10749A>C (p.Ala3583=) rs747834026
NM_206933.4(USH2A):c.11389+15del rs397517972
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu) rs35309576
NM_206933.4(USH2A):c.12462T>C (p.Pro4154=) rs727503717
NM_206933.4(USH2A):c.12624C>A (p.Asp4208Glu) rs375223901
NM_206933.4(USH2A):c.1299T>C (p.Pro433=) rs1571702060
NM_206933.4(USH2A):c.13222G>A (p.Val4408Ile) rs111033500
NM_206933.4(USH2A):c.13808A>G (p.His4603Arg) rs727504551
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg) rs397517987
NM_206933.4(USH2A):c.14332G>T (p.Ala4778Ser) rs727504637
NM_206933.4(USH2A):c.14838G>T (p.Val4946=) rs949583594
NM_206933.4(USH2A):c.14901C>T (p.Thr4967=) rs397517993
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=) rs397517998
NM_206933.4(USH2A):c.15321C>T (p.Pro5107=) rs397518000
NM_206933.4(USH2A):c.15501G>A (p.Met5167Ile) rs397518001
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His) rs727505155
NM_206933.4(USH2A):c.1722T>G (p.Pro574=) rs397518002
NM_206933.4(USH2A):c.2007T>A (p.Ser669=) rs876657625
NM_206933.4(USH2A):c.2732C>A (p.Thr911Asn) rs397518006
NM_206933.4(USH2A):c.2775T>C (p.Asn925=) rs779331611
NM_206933.4(USH2A):c.2829C>A (p.Gly943=) rs397518007
NM_206933.4(USH2A):c.2880T>C (p.Asn960=) rs151177516
NM_206933.4(USH2A):c.3942A>G (p.Glu1314=) rs876657626
NM_206933.4(USH2A):c.4002G>A (p.Lys1334=) rs727503733
NM_206933.4(USH2A):c.4668G>A (p.Leu1556=) rs727503729
NM_206933.4(USH2A):c.5373G>C (p.Leu1791=) rs876657628
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=) rs727503726
NM_206933.4(USH2A):c.6114T>C (p.Ala2038=) rs1052386893
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=) rs397518025
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=) rs876657629
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val) rs542406401
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu) rs138959688
NM_206933.4(USH2A):c.687C>A (p.Gly229=) rs766740504
NM_206933.4(USH2A):c.7194C>T (p.Leu2398=) rs1269441158
NM_206933.4(USH2A):c.7626G>C (p.Leu2542=) rs577063450
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His) rs189748047
NM_206933.4(USH2A):c.8244C>T (p.Leu2748=) rs111033506
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=) rs753719500
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=) rs397518040
NM_206933.4(USH2A):c.870T>A (p.Ser290=) rs876657630
NM_206933.4(USH2A):c.8801G>C (p.Ser2934Thr) rs1664489826
NM_206933.4(USH2A):c.8845+9G>C rs748060796
NM_206933.4(USH2A):c.9278A>T (p.Tyr3093Phe) rs397518045
NM_206933.4(USH2A):c.9402G>A (p.Arg3134=) rs876657631
NM_206933.4(USH2A):c.9621T>C (p.Cys3207=) rs727505296
NM_206933.4(USH2A):c.9636C>T (p.Ile3212=) rs397518049
NM_207034.3(EDN3):c.342C>T (p.Asp114=) rs1272021123
NM_207034.3(EDN3):c.504C>T (p.Ala168=) rs1600756985
m.1193T>C rs111033321
m.1211G>A rs397515725
m.1310C>T rs111033354
m.1442G>A rs28358573
m.7471C>T rs397515726
m.7476C>T rs201950015
m.951G>A rs200887992
m.958_960dupCCC rs111033185
m.960_961insC rs111033185
m.960delC rs111033185
m.961T>G rs3888511
m.980T>C rs397515731

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