ClinVar Miner

List of variants reported as uncertain significance by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1343
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp) rs141087261 0.00842
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe) rs114280473 0.00417
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) rs41303495 0.00384
NM_000562.3(C8A):c.1331G>A (p.Arg444His) rs143908758 0.00334
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) rs139295139 0.00254
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_001083961.2(WDR62):c.4312-5T>G rs182467995 0.00215
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp) rs200146361 0.00205
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_004807.3(HS6ST1):c.652C>T (p.Pro218Ser) rs200268730 0.00202
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu) rs1800579 0.00193
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_003647.3(DGKE):c.465-3C>T rs375726408 0.00168
NM_173630.4(RTTN):c.2804A>G (p.His935Arg) rs145832674 0.00164
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191 0.00137
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr) rs148623597 0.00137
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_001195129.2(PRSS56):c.904G>T (p.Val302Phe) rs74703359 0.00131
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_000541.5(SAG):c.31G>A (p.Glu11Lys) rs200078242 0.00129
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) rs144289912 0.00126
NM_000265.7(NCF1):c.292T>G (p.Cys98Gly) rs144018361 0.00124
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738 0.00121
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala) rs115333628 0.00116
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp) rs41306784 0.00112
NM_003322.6(TULP1):c.797G>T (p.Gly266Val) rs150480343 0.00111
NM_000265.7(NCF1):c.269G>A (p.Arg90His) rs201802880 0.00110
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00107
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_020884.7(MYH7B):c.4070A>C (p.Glu1357Ala) rs202122911 0.00103
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_001128228.3(TPRN):c.655C>A (p.Arg219Ser) rs559890679 0.00097
NM_012388.4(BLOC1S6):c.82+175A>G rs556503190 0.00092
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328 0.00089
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn) rs189910531 0.00084
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740 0.00083
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) rs56059137 0.00083
NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu) rs200374024 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506 0.00080
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) rs144562730 0.00079
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser) rs145102275 0.00077
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu) rs142320636 0.00077
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450 0.00076
NM_016529.6(ATP8A2):c.2138T>C (p.Ile713Thr) rs142872070 0.00073
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr) rs144321760 0.00071
NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr) rs138804394 0.00071
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_006383.4(CIB2):c.523A>C (p.Lys175Gln) rs200546031 0.00070
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe) rs41310067 0.00070
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) rs147488907 0.00069
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_001370298.3(FGD4):c.167-29728T>C rs561223009 0.00065
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362 0.00065
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) rs141878785 0.00064
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys) rs138218277 0.00064
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln) rs145844320 0.00064
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys) rs138087806 0.00061
NM_001349253.2(SCN11A):c.95C>T (p.Ala32Val) rs150835546 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532 0.00058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_020774.4(MIB1):c.4A>G (p.Ser2Gly) rs780532174 0.00057
NM_000355.4(TCN2):c.809C>T (p.Ala270Val) rs201392026 0.00056
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro) rs117747744 0.00056
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val) rs140272085 0.00055
NM_006514.4(SCN10A):c.1138G>A (p.Val380Ile) rs142276689 0.00055
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) rs138810908 0.00054
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816 0.00052
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=) rs370297602 0.00051
NM_014989.7(RIMS1):c.2294A>G (p.Gln765Arg) rs199629596 0.00050
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_014687.4(RUBCN):c.397C>T (p.His133Tyr) rs201876836 0.00048
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn) rs200378626 0.00048
NM_000186.4(CFH):c.172T>G (p.Ser58Ala) rs141336681 0.00047
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497 0.00046
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00046
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) rs200197273 0.00046
NM_001061.7(TBXAS1):c.623C>G (p.Pro208Arg) rs137946697 0.00045
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) rs192843629 0.00045
NM_001252024.2(TRPM1):c.551G>A (p.Arg184Gln) rs188852505 0.00044
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856 0.00043
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001384474.1(LOXHD1):c.6460G>A (p.Val2154Ile) rs182149228 0.00041
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) rs145309168 0.00041
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His) rs139861061 0.00041
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp) rs147903234 0.00041
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) rs150710403 0.00040
NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn) rs149282954 0.00040
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp) rs144040842 0.00039
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala) rs201804994 0.00039
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440 0.00039
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp) rs121912553 0.00038
NM_014855.3(AP5Z1):c.313C>T (p.His105Tyr) rs200490093 0.00038
NM_014855.3(AP5Z1):c.874C>T (p.Arg292Trp) rs199760184 0.00038
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln) rs200559738 0.00037
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp) rs529894952 0.00036
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn) rs150269814 0.00036
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_003227.4(TFR2):c.2135G>A (p.Arg712Gln) rs201556221 0.00035
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943 0.00034
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_001347217.2(WDR13):c.794G>C (p.Cys265Ser) rs370525874 0.00034
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) rs146396982 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00034
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr) rs185127002 0.00033
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302 0.00033
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala) rs200172266 0.00032
NM_001256789.3(CACNA1F):c.904C>T (p.Arg302Cys) rs139612152 0.00032
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_001349884.2(DRAM2):c.737T>C (p.Leu246Pro) rs148031211 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000064.4(C3):c.1909G>C (p.Gly637Arg) rs149850773 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_002109.6(HARS1):c.382C>T (p.Arg128Cys) rs138582560 0.00031
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn) rs145677667 0.00031
NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe) rs150765660 0.00031
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_000260.4(MYO7A):c.731G>A (p.Arg244His) rs121965081 0.00030
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00027
NM_001332.4(CTNND2):c.1520A>C (p.Gln507Pro) rs142843736 0.00027
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_181523.3(PIK3R1):c.917-1513G>T rs144312303 0.00026
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000823.4(GHRHR):c.29T>G (p.Val10Gly) rs139599160 0.00025
NM_001291303.3(FAT4):c.8078C>T (p.Ser2693Leu) rs148918820 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala) rs200981928 0.00025
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) rs28730713 0.00024
NM_016358.3(IRX4):c.690C>T (p.Gly230=) rs142055032 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_031475.3(ESPN):c.1432C>T (p.Arg478Cys) rs780655335 0.00023
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720 0.00022
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_001145026.2(PTPRQ):c.3616T>G (p.Leu1206Val) rs755745017 0.00021
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser) rs367824632 0.00021
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr) rs762561997 0.00021
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu) rs769669385 0.00021
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_001253852.3(AP4B1):c.968C>T (p.Ser323Leu) rs142732858 0.00020
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 0.00020
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) rs202214380 0.00020
NM_144498.4(OSBPL2):c.598A>G (p.Ile200Val) rs377525202 0.00020
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 0.00019
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val) rs150266349 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_020884.7(MYH7B):c.2393G>A (p.Arg798Gln) rs200090549 0.00019
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys) rs374656545 0.00019
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys) rs146526977 0.00019
NM_181703.4(GJA5):c.793C>T (p.Pro265Ser) rs148311482 0.00019
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) rs142857810 0.00019
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) rs376982715 0.00018
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser) rs140135726 0.00018
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950 0.00018
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys) rs72552292 0.00018
NM_020320.5(RARS2):c.754T>A (p.Tyr252Asn) rs140692271 0.00018
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp) rs150007422 0.00018
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_024306.5(FA2H):c.925G>A (p.Val309Ile) rs150427439 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe) rs104895157 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=) rs149185729 0.00016
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr) rs375755770 0.00016
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00016
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys) rs367774903 0.00016
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_032634.4(PIGO):c.1132C>T (p.Leu378Phe) rs746870615 0.00016
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) rs143205855 0.00015
NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met) rs201746408 0.00015
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00015
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00014
NM_000095.3(COMP):c.951C>A (p.Asp317Glu) rs200547692 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001061.7(TBXAS1):c.796C>T (p.Arg266Trp) rs140774405 0.00014
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) rs376823283 0.00014
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser) rs374124083 0.00014
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092 0.00014
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_015102.5(NPHP4):c.3352G>A (p.Val1118Met) rs368703067 0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg) rs775245244 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_024120.5(NDUFAF5):c.752T>C (p.Met251Thr) rs200199681 0.00014
NM_024306.5(FA2H):c.202A>G (p.Arg68Gly) rs750198250 0.00014
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met) rs201007778 0.00014
NM_032578.4(MYPN):c.845A>G (p.Glu282Gly) rs146336815 0.00014
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000186.4(CFH):c.388G>A (p.Asp130Asn) rs147002633 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) rs200304238 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) rs200112094 0.00013
NM_001145809.2(MYH14):c.2864G>A (p.Arg955Gln) rs576611342 0.00013
NM_001267550.2(TTN):c.81157T>A (p.Tyr27053Asn) rs776943572 0.00013
NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) rs139542862 0.00013
NM_001292063.2(OTOG):c.550G>A (p.Asp184Asn) rs748075389 0.00013
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841 0.00013
NM_020812.4(DOCK6):c.3191T>C (p.Leu1064Pro) rs370735885 0.00013
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly) rs539832575 0.00013
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His) rs201774108 0.00012
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00012
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met) rs376363284 0.00012
NM_001349253.2(SCN11A):c.4282G>A (p.Gly1428Ser) rs201336927 0.00012
NM_003673.4(TCAP):c.209G>A (p.Arg70Gln) rs552865793 0.00012
NM_012253.4(TKTL1):c.1283C>T (p.Thr428Met) rs191591693 0.00012
NM_145046.5(CALR3):c.564del (p.Gln189fs) rs747656642 0.00012
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln) rs191009474 0.00011
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_001113491.2(SEPTIN9):c.1460T>C (p.Val487Ala) rs376712636 0.00011
NM_001127217.3(SMAD9):c.1161C>A (p.Asn387Lys) rs562953157 0.00011
NM_001145026.2(PTPRQ):c.6487T>C (p.Phe2163Leu) rs773066654 0.00011
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069 0.00011
NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln) rs201693851 0.00011
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys) rs368932767 0.00011
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr) rs373876117 0.00011
NM_001365276.2(TNXB):c.12210+5G>A rs4959085 0.00011
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675 0.00011
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln) rs369466037 0.00011
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg) rs373629059 0.00011
NM_012464.5(TLL1):c.809C>G (p.Pro270Arg) rs560690746 0.00011
NM_014271.4(IL1RAPL1):c.651A>C (p.Glu217Asp) rs775759727 0.00011
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln) rs199903227 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu) rs141339026 0.00011
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_000283.4(PDE6B):c.2363G>A (p.Arg788His) rs777999727 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly) rs200574919 0.00010
NM_001103.4(ACTN2):c.1192C>T (p.Arg398Cys) rs148189507 0.00010
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His) rs373709706 0.00010
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe) rs370109572 0.00010
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636 0.00010
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00010
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00010
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_003721.4(RFXANK):c.187G>A (p.Ala63Thr) rs150525759 0.00010
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys) rs200664666 0.00010
NM_032634.4(PIGO):c.394A>G (p.Met132Val) rs772678647 0.00010
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His) rs368681648 0.00010
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) rs199472880 0.00009
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) rs769167548 0.00009
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) rs373080197 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000432.4(MYL2):c.374C>T (p.Thr125Met) rs375667565 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001098668.4(SFTPA2):c.257G>A (p.Gly86Glu) rs200897593 0.00009
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln) rs142395261 0.00009
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr) rs759110420 0.00009
NM_001365536.1(SCN9A):c.361A>C (p.Lys121Gln) rs200486515 0.00009
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser) rs376489385 0.00009
NM_001458.5(FLNC):c.1605C>T (p.Cys535=) rs199976790 0.00009
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864 0.00009
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile) rs149201422 0.00009
NM_004517.4(ILK):c.466G>A (p.Gly156Ser) rs199790448 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His) rs765374050 0.00009
NM_020774.4(MIB1):c.2026C>T (p.Arg676Ter) rs200545301 0.00009
NM_022114.4(PRDM16):c.2953G>A (p.Asp985Asn) rs758565663 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_144573.4(NEXN):c.392A>G (p.Gln131Arg) rs397517858 0.00009
NM_201548.5(CERKL):c.949C>T (p.Arg317Cys) rs142530341 0.00009
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837 0.00008
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) rs111033224 0.00008
NM_000282.4(PCCA):c.1289G>A (p.Arg430Gln) rs187346936 0.00008
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634 0.00008
NM_001105206.3(LAMA4):c.2599C>A (p.Pro867Thr) rs782162498 0.00008
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys) rs371807358 0.00008
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592 0.00008
NM_003235.5(TG):c.6769G>A (p.Ala2257Thr) rs199683856 0.00008
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala) rs542768500 0.00008
NM_007078.3(LDB3):c.1675C>T (p.Arg559Trp) rs142947567 0.00008
NM_015295.3(SMCHD1):c.2606G>T (p.Gly869Val) rs548397345 0.00008
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_201269.3(ZNF644):c.3862A>G (p.Ile1288Val) rs201792583 0.00008
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972 0.00007
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln) rs727504378 0.00007
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala) rs376612295 0.00007
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His) rs373600053 0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_001377229.1(DISP1):c.1804C>A (p.Gln602Lys) rs555036894 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002230.4(JUP):c.958C>T (p.Arg320Cys) rs200740462 0.00007
NM_002471.4(MYH6):c.3808C>T (p.Arg1270Cys) rs371849826 0.00007
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala) rs145108467 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555 0.00007
NM_019098.5(CNGB3):c.1672G>T (p.Gly558Cys) rs749413012 0.00007
NM_022114.4(PRDM16):c.197C>T (p.Ser66Leu) rs374012976 0.00007
NM_201384.3(PLEC):c.4075C>T (p.Arg1359Cys) rs541323979 0.00007
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040 0.00007
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met) rs151057466 0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246 0.00006
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu) rs367729718 0.00006
NM_000257.4(MYH7):c.115G>A (p.Val39Met) rs376160714 0.00006
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met) rs371552806 0.00006
NM_000257.4(MYH7):c.968T>C (p.Ile323Thr) rs397516275 0.00006
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) rs370232066 0.00006
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp) rs373804267 0.00006
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys) rs373118001 0.00006
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser) rs749935207 0.00006
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001105206.3(LAMA4):c.547A>G (p.Thr183Ala) rs782667094 0.00006
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln) rs1033214914 0.00006
NM_001267550.2(TTN):c.13376T>C (p.Ile4459Thr) rs763065439 0.00006
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser) rs369385294 0.00006
NM_001267550.2(TTN):c.49937G>A (p.Arg16646Gln) rs746384579 0.00006
NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn) rs369893671 0.00006
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) rs199505416 0.00006
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu) rs777009984 0.00006
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly) rs375830234 0.00006
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup) rs772268958 0.00006
NM_001267550.2(TTN):c.77749T>C (p.Tyr25917His) rs370137092 0.00006
NM_001267550.2(TTN):c.88622T>C (p.Ile29541Thr) rs768292510 0.00006
NM_001283009.2(RTEL1):c.2707G>A (p.Val903Met) rs143317975 0.00006
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) rs199822303 0.00006
NM_001458.5(FLNC):c.1885C>T (p.Arg629Trp) rs759376455 0.00006
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met) rs140857707 0.00006
NM_001853.4(COL9A3):c.673G>A (p.Val225Met) rs201165556 0.00006
NM_002471.4(MYH6):c.2951T>C (p.Met984Thr) rs202028680 0.00006
NM_002471.4(MYH6):c.3427C>T (p.Arg1143Trp) rs755209382 0.00006
NM_002471.4(MYH6):c.4216G>A (p.Val1406Met) rs201566738 0.00006
NM_004700.4(KCNQ4):c.665G>A (p.Gly222Asp) rs752658856 0.00006
NM_006343.3(MERTK):c.1058C>T (p.Ala353Val) rs142060697 0.00006
NM_006514.4(SCN10A):c.5548C>T (p.Gln1850Ter) rs149504103 0.00006
NM_006979.3(SLC39A7):c.578T>A (p.Leu193His) rs373509303 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_012134.3(LMOD1):c.349C>T (p.Arg117Trp) rs559672115 0.00006
NM_014000.3(VCL):c.2467C>T (p.Arg823Trp) rs779047174 0.00006
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln) rs759202535 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) rs768095251 0.00006
NM_017780.4(CHD7):c.2788G>A (p.Glu930Lys) rs377330239 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser) rs200048921 0.00006
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284 0.00006
NM_024741.3(ZNF408):c.1786C>T (p.Arg596Cys) rs774012371 0.00006
NM_032578.4(MYPN):c.1466G>A (p.Arg489Gln) rs141031460 0.00006
NM_032634.4(PIGO):c.581T>G (p.Phe194Cys) rs61755365 0.00006
NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr) rs371864924 0.00006
NM_080680.3(COL11A2):c.3950T>C (p.Leu1317Pro) rs145871842 0.00006
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys) rs368812830 0.00006
NM_145698.5(ACBD5):c.407T>C (p.Val136Ala) rs573943806 0.00006
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln) rs764196059 0.00006
NM_178857.6(RP1L1):c.1298G>A (p.Arg433His) rs756134481 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00005
NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala) rs375774648 0.00005
NM_000257.4(MYH7):c.67C>T (p.Arg23Trp) rs730880828 0.00005
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His) rs756324342 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys) rs564987195 0.00005
NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn) rs587780746 0.00005
NM_001267550.2(TTN):c.63464G>A (p.Arg21155His) rs373169150 0.00005
NM_001267550.2(TTN):c.66527C>T (p.Ser22176Phe) rs779303152 0.00005
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His) rs371615296 0.00005
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp) rs397517755 0.00005
NM_001365536.1(SCN9A):c.2299C>A (p.Pro767Thr) rs199715588 0.00005
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu) rs756584594 0.00005
NM_001458.5(FLNC):c.2041G>A (p.Gly681Ser) rs199705417 0.00005
NM_001458.5(FLNC):c.4054C>T (p.Arg1352Cys) rs367931139 0.00005
NM_001943.5(DSG2):c.862G>A (p.Val288Ile) rs780374242 0.00005
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala) rs397516859 0.00005
NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp) rs767661570 0.00005
NM_006073.4(TRDN):c.224A>T (p.Asn75Ile) rs368939536 0.00005
NM_006946.4(SPTBN2):c.229C>T (p.Arg77Trp) rs200956071 0.00005
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr) rs774976112 0.00005
NM_020800.3(IFT80):c.2156G>A (p.Arg719His) rs551983792 0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_183075.3(CYP2U1):c.1630A>T (p.Arg544Ter) rs772136947 0.00005
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988 0.00004
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln) rs531178000 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000152.5(GAA):c.912C>T (p.Gly304=) rs368741815 0.00004
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu) rs773819168 0.00004
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His) rs730880142 0.00004
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381 0.00004
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) rs11570060 0.00004
NM_000258.3(MYL3):c.476C>T (p.Thr159Met) rs748832105 0.00004
NM_000546.6(TP53):c.993+227A>C rs764562217 0.00004
NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp) rs369669154 0.00004
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) rs371702432 0.00004
NM_001040151.2(SCN3B):c.73G>T (p.Val25Leu) rs746954414 0.00004
NM_001110219.3(GJB6):c.1A>G (p.Met1Val) rs776848994 0.00004
NM_001145809.2(MYH14):c.3562G>C (p.Glu1188Gln) rs200299854 0.00004
NM_001256789.3(CACNA1F):c.2968G>A (p.Gly990Arg) rs782473510 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln) rs202022304 0.00004
NM_001267550.2(TTN):c.40600C>T (p.Pro13534Ser) rs770091359 0.00004
NM_001267550.2(TTN):c.74225G>A (p.Arg24742His) rs761823581 0.00004
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser) rs757343393 0.00004
NM_001267550.2(TTN):c.84588A>C (p.Arg28196Ser) rs773466308 0.00004
NM_001267550.2(TTN):c.85380A>G (p.Ile28460Met) rs768545532 0.00004
NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln) rs745632066 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001330260.2(SCN8A):c.5558A>G (p.Lys1853Arg) rs1410900258 0.00004
NM_001360.3(DHCR7):c.160G>A (p.Val54Ile) rs779222334 0.00004
NM_001369268.1(ACAN):c.1507A>T (p.Thr503Ser) rs374406298 0.00004
NM_001369268.1(ACAN):c.229C>T (p.Arg77Cys) rs575468209 0.00004
NM_001458.5(FLNC):c.1936G>A (p.Asp646Asn) rs372668691 0.00004
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172 0.00004
NM_002230.4(JUP):c.1219G>A (p.Val407Ile) rs370913228 0.00004
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199 0.00004
NM_002471.4(MYH6):c.5661G>A (p.Ala1887=) rs759126258 0.00004
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) rs193922667 0.00004
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr) rs144539278 0.00004
NM_005159.5(ACTC1):c.623G>A (p.Arg208His) rs142839840 0.00004
NM_006005.3(WFS1):c.418G>A (p.Glu140Lys) rs948101237 0.00004
NM_006514.4(SCN10A):c.5539C>T (p.Arg1847Ter) rs199503439 0.00004
NM_014009.4(FOXP3):c.253C>T (p.Arg85Trp) rs376715533 0.00004
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys) rs72552294 0.00004
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser) rs375260339 0.00004
NM_017882.3(CLN6):c.259A>G (p.Met87Val) rs532180601 0.00004
NM_020320.5(RARS2):c.1519G>A (p.Glu507Lys) rs746493119 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu) rs202031070 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) rs45476495 0.00004
NM_031475.3(ESPN):c.2239G>A (p.Gly747Ser) rs547326011 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_198407.2(GHSR):c.422G>C (p.Arg141Pro) rs199698243 0.00004
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp) rs141134147 0.00004
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000179.3(MSH6):c.3703C>G (p.Leu1235Val) rs876661084 0.00003
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu) rs63750226 0.00003
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln) rs727504346 0.00003
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys) rs397516069 0.00003
NM_000257.4(MYH7):c.4868A>G (p.Asn1623Ser) rs1306407579 0.00003
NM_000257.4(MYH7):c.5471A>G (p.Asn1824Ser) rs760218400 0.00003
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile) rs557957405 0.00003
NM_000350.3(ABCA4):c.2692G>A (p.Glu898Lys) rs61749441 0.00003
NM_000492.4(CFTR):c.264A>C (p.Leu88Phe) rs149662778 0.00003
NM_000503.6(EYA1):c.1523C>T (p.Ala508Val) rs754901033 0.00003
NM_000539.3(RHO):c.941G>A (p.Arg314Gln) rs753609310 0.00003
NM_001103.4(ACTN2):c.1162T>A (p.Trp388Arg) rs376144003 0.00003
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg) rs200355875 0.00003
NM_001145252.3(CFP):c.580G>A (p.Gly194Arg) rs755651023 0.00003
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His) rs765965968 0.00003
NM_001232.4(CASQ2):c.141G>C (p.Lys47Asn) rs1553197917 0.00003
NM_001253852.3(AP4B1):c.319C>T (p.Arg107Trp) rs74361335 0.00003
NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe) rs773984912 0.00003
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu) rs766440492 0.00003
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val) rs374203813 0.00003
NM_001267550.2(TTN):c.90845C>T (p.Thr30282Met) rs756769026 0.00003
NM_001267550.2(TTN):c.93359T>C (p.Leu31120Pro) rs1310673663 0.00003
NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser) rs368608059 0.00003
NM_001330661.1(ZIC3):c.1273C>T (p.Leu425Phe) rs947803463 0.00003
NM_001349253.2(SCN11A):c.2759C>T (p.Ala920Val) rs759694252 0.00003
NM_001374675.1(HSF4):c.1477T>G (p.Ter493Glu) rs1239772837 0.00003
NM_001376.5(DYNC1H1):c.12811C>T (p.Arg4271Cys) rs573730260 0.00003
NM_001376.5(DYNC1H1):c.6763G>A (p.Asp2255Asn) rs376274132 0.00003
NM_001378615.1(CC2D2A):c.1451A>G (p.Tyr484Cys) rs746279803 0.00003
NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys) rs769756450 0.00003
NM_002878.4(RAD51D):c.202G>A (p.Gly68Ser) rs775045445 0.00003
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met) rs397516851 0.00003
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) rs775636212 0.00003
NM_004004.6(GJB2):c.647G>T (p.Arg216Ile) rs767233008 0.00003
NM_004082.5(DCTN1):c.1595G>A (p.Arg532Gln) rs759306485 0.00003
NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln) rs776616498 0.00003
NM_004415.4(DSP):c.6368G>A (p.Arg2123His) rs142272846 0.00003
NM_004722.4(AP4M1):c.136C>G (p.Pro46Ala) rs757747386 0.00003
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala) rs371876622 0.00003
NM_006514.4(SCN10A):c.5694del (p.Ala1899fs) rs747321219 0.00003
NM_007078.3(LDB3):c.160G>A (p.Gly54Ser) rs201786090 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_014000.3(VCL):c.1940C>T (p.Ala647Val) rs534449109 0.00003
NM_015978.3(TNNI3K):c.1722G>C (p.Met574Ile) rs199899961 0.00003
NM_017514.5(PLXNA3):c.3550G>C (p.Asp1184His) rs781806360 0.00003
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) rs749381544 0.00003
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) rs769493139 0.00003
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) rs544856644 0.00003
NM_020433.5(JPH2):c.8G>A (p.Gly3Glu) rs746138065 0.00003
NM_021625.5(TRPV4):c.1379G>A (p.Arg460Gln) rs202244562 0.00003
NM_031475.3(ESPN):c.2150A>G (p.Asn717Ser) rs921702586 0.00003
NM_033337.3(CAV3):c.433G>A (p.Val145Met) rs142475018 0.00003
NM_152381.6(XIRP2):c.4045G>A (p.Gly1349Arg) rs761807020 0.00003
NM_153252.5(BRWD3):c.4339C>T (p.Arg1447Trp) rs764350439 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_206933.4(USH2A):c.13609C>T (p.Pro4537Ser) rs1435495561 0.00003
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys) rs576236830 0.00003
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498 0.00002
NM_000051.4(ATM):c.4028T>C (p.Ile1343Thr) rs1309605588 0.00002
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met) rs763020528 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His) rs80359078 0.00002
NM_000117.3(EMD):c.148C>T (p.Pro50Ser) rs781936763 0.00002
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000142.5(FGFR3):c.277C>T (p.Arg93Trp) rs199968400 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro) rs774440277 0.00002
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr) rs730881778 0.00002
NM_000256.3(MYBPC3):c.2275G>A (p.Glu759Lys) rs750810342 0.00002
NM_000256.3(MYBPC3):c.2500C>T (p.Arg834Trp) rs752007810 0.00002
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396 0.00002
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745 0.00002
NM_000257.4(MYH7):c.1384A>T (p.Ile462Phe) rs397516105 0.00002
NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) rs755392435 0.00002
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 0.00002
NM_000257.4(MYH7):c.4996G>A (p.Asp1666Asn) rs747993770 0.00002
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962 0.00002
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277 0.00002
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys) rs565312070 0.00002
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly) rs193922391 0.00002
NM_000335.5(SCN5A):c.157C>T (p.Arg53Trp) rs878859550 0.00002
NM_000335.5(SCN5A):c.4625T>C (p.Val1542Ala) rs551383710 0.00002
NM_000335.5(SCN5A):c.5171C>T (p.Pro1724Leu) rs199473301 0.00002
NM_000350.3(ABCA4):c.4402C>G (p.Pro1468Ala) rs775082837 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe) rs193922533 0.00002
NM_000540.3(RYR1):c.11302C>T (p.Arg3768Trp) rs910313832 0.00002
NM_001005242.3(PKP2):c.1379-1972G>A rs779392697 0.00002
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln) rs748805290 0.00002
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val) rs554201948 0.00002
NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu) rs730880123 0.00002
NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser) rs782419414 0.00002
NM_001126108.2(SLC12A3):c.1396C>G (p.Leu466Val) rs374545976 0.00002
NM_001130438.3(SPTAN1):c.4279C>T (p.Arg1427Cys) rs774559979 0.00002
NM_001159699.2(FHL1):c.247C>T (p.Arg83Cys) rs1379221574 0.00002
NM_001195553.2(DCX):c.-22-494G>T rs746052967 0.00002
NM_001267550.2(TTN):c.104245C>T (p.Arg34749Trp) rs962181882 0.00002
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu) rs727504491 0.00002
NM_001267550.2(TTN):c.106828A>G (p.Lys35610Glu) rs753984036 0.00002
NM_001267550.2(TTN):c.21970T>G (p.Tyr7324Asp) rs765632650 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys) rs779336886 0.00002
NM_001267550.2(TTN):c.55808C>T (p.Pro18603Leu) rs531760043 0.00002
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00002
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln) rs201448988 0.00002
NM_001267550.2(TTN):c.70485A>T (p.Lys23495Asn) rs1482776876 0.00002
NM_001267550.2(TTN):c.74533A>C (p.Ile24845Leu) rs1214451388 0.00002
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245 0.00002
NM_001289808.2(CRYAB):c.487C>T (p.Arg163Cys) rs186242388 0.00002
NM_001347217.2(WDR13):c.962C>T (p.Ala321Val) rs1163033477 0.00002
NM_001349253.2(SCN11A):c.2419A>G (p.Ile807Val) rs1055160429 0.00002
NM_001365951.3(KIF1B):c.20A>T (p.Lys7Met) rs758134092 0.00002
NM_001369268.1(ACAN):c.5419G>A (p.Gly1807Arg) rs772897999 0.00002
NM_001369268.1(ACAN):c.6113C>T (p.Thr2038Ile) rs149083251 0.00002
NM_001384474.1(LOXHD1):c.6322G>A (p.Glu2108Lys) rs774836161 0.00002
NM_001540.5(HSPB1):c.598G>A (p.Asp200Asn) rs147500292 0.00002
NM_001848.3(COL6A1):c.1982G>A (p.Gly661Asp) rs771702139 0.00002
NM_001927.4(DES):c.1308G>C (p.Arg436Ser) rs985185092 0.00002
NM_001999.4(FBN2):c.1990A>T (p.Thr664Ser) rs746408145 0.00002
NM_002471.4(MYH6):c.4010C>T (p.Ser1337Leu) rs758922922 0.00002
NM_002471.4(MYH6):c.4685G>A (p.Arg1562Gln) rs371068881 0.00002
NM_002471.4(MYH6):c.5696G>A (p.Arg1899His) rs61731171 0.00002
NM_002941.4(ROBO1):c.3986A>G (p.Glu1329Gly) rs372766609 0.00002
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) rs548844573 0.00002
NM_003476.5(CSRP3):c.437G>A (p.Arg146His) rs377066670 0.00002
NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys) rs567433223 0.00002
NM_003905.4(NAE1):c.254G>A (p.Arg85Gln) rs752555475 0.00002
NM_004082.5(DCTN1):c.1471A>G (p.Met491Val) rs755324462 0.00002
NM_004082.5(DCTN1):c.3545C>T (p.Ser1182Leu) rs975026607 0.00002
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln) rs1126568 0.00002
NM_004187.5(KDM5C):c.2944C>T (p.Arg982Cys) rs369353279 0.00002
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met) rs375150075 0.00002
NM_004415.4(DSP):c.82T>G (p.Tyr28Asp) rs766454930 0.00002
NM_005120.3(MED12):c.5893C>T (p.Pro1965Ser) rs2092336419 0.00002
NM_005422.4(TECTA):c.5669G>A (p.Arg1890His) rs371520052 0.00002
NM_006017.3(PROM1):c.2450A>G (p.Lys817Arg) rs1231060253 0.00002
NM_006269.2(RP1):c.2150C>T (p.Ser717Leu) rs1270635237 0.00002
NM_007078.3(LDB3):c.608C>T (p.Ser203Leu) rs201538257 0.00002
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys) rs80357202 0.00002
NM_013266.4(CTNNA3):c.67G>A (p.Val23Met) rs776250185 0.00002
NM_014000.3(VCL):c.1558C>T (p.Arg520Trp) rs377722209 0.00002
NM_014014.5(SNRNP200):c.3614C>T (p.Thr1205Met) rs376746667 0.00002
NM_014476.6(PDLIM3):c.803C>T (p.Pro268Leu) rs1188446991 0.00002
NM_014491.4(FOXP2):c.946A>G (p.Ile316Val) rs563897082 0.00002
NM_014855.3(AP5Z1):c.1312-2A>G rs989538601 0.00002
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) rs750340477 0.00002
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg) rs782141957 0.00002
NM_018558.4(GABRQ):c.1090C>T (p.Arg364Ter) rs367579214 0.00002
NM_018685.5(ANLN):c.688C>T (p.Pro230Ser) rs369437029 0.00002
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp) rs770850932 0.00002
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) rs368377980 0.00002
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His) rs376614796 0.00002
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) rs727504578 0.00002
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591 0.00002
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile) rs201042302 0.00002
NM_144499.3(GNAT1):c.379T>C (p.Trp127Arg) rs373544213 0.00002
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys) rs777841827 0.00002
NM_170707.4(LMNA):c.884C>T (p.Ser295Leu) rs769210828 0.00002
NM_178857.6(RP1L1):c.1030G>T (p.Gly344Cys) rs761779201 0.00002
NM_181332.3(NLGN4X):c.847G>A (p.Ala283Thr) rs766959779 0.00002
NM_201596.3(CACNB2):c.1123G>A (p.Ala375Thr) rs552868927 0.00002
NM_205834.4(LSR):c.745T>C (p.Cys249Arg) rs753639491 0.00002
NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln) rs774844491 0.00002
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn) rs551424240 0.00002
NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys) rs777607869 0.00002
NM_000038.6(APC):c.3083G>T (p.Ser1028Ile) rs1114167617 0.00001
NM_000051.4(ATM):c.4420C>G (p.His1474Asp) rs587779840 0.00001
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys) rs754181173 0.00001
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys) rs779718362 0.00001
NM_000051.4(ATM):c.7793G>A (p.Arg2598Gln) rs140263969 0.00001
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys) rs138526014 0.00001
NM_000051.4(ATM):c.8173G>C (p.Asp2725His) rs587782049 0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp) rs748192003 0.00001
NM_000057.4(BLM):c.2872G>A (p.Val958Met) rs775006576 0.00001
NM_000059.4(BRCA2):c.7022G>A (p.Arg2341His) rs786202839 0.00001
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu) rs80358934 0.00001
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968 0.00001
NM_000059.4(BRCA2):c.8414T>C (p.Leu2805Ser) rs397507983 0.00001
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys) rs373203204 0.00001
NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr) rs553440338 0.00001
NM_000069.3(CACNA1S):c.1246C>T (p.Gln416Ter) rs1303215579 0.00001
NM_000117.3(EMD):c.149C>A (p.Pro50His) rs782021157 0.00001
NM_000138.5(FBN1):c.284C>T (p.Ser95Leu) rs922684362 0.00001
NM_000157.4(GBA1):c.1088T>C (p.Leu363Pro) rs1178732315 0.00001
NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr) rs574358605 0.00001
NM_000180.4(GUCY2D):c.1339C>T (p.Pro447Ser) rs1029006549 0.00001
NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile) rs199956744 0.00001
NM_000238.4(KCNH2):c.935G>A (p.Arg312His) rs747313232 0.00001
NM_000249.4(MLH1):c.1682A>G (p.Tyr561Cys) rs1289807424 0.00001
NM_000249.4(MLH1):c.743A>G (p.Asn248Ser) rs587782800 0.00001
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln) rs63751455 0.00001
NM_000256.3(MYBPC3):c.2962G>A (p.Gly988Arg) rs779781718 0.00001
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171 0.00001
NM_000257.4(MYH7):c.2456G>A (p.Arg819Gln) rs773009513 0.00001
NM_000257.4(MYH7):c.328G>A (p.Gly110Ser) rs763893822 0.00001
NM_000257.4(MYH7):c.3828G>C (p.Gln1276His) rs1892377170 0.00001
NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys) rs750987717 0.00001
NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln) rs1257980330 0.00001
NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val) rs757090529 0.00001
NM_000257.4(MYH7):c.493A>G (p.Met165Val) rs730880839 0.00001
NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly) rs200157204 0.00001
NM_000257.4(MYH7):c.5749G>T (p.Val1917Phe) rs397516255 0.00001
NM_000258.3(MYL3):c.10A>C (p.Lys4Gln) rs1404760917 0.00001
NM_000318.3(PEX2):c.869T>G (p.Leu290Arg) rs756496949 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys) rs199473050 0.00001
NM_000335.5(SCN5A):c.2199C>A (p.Phe733Leu) rs759509286 0.00001
NM_000335.5(SCN5A):c.79C>T (p.Arg27Cys) rs746360906 0.00001
NM_000350.3(ABCA4):c.3962C>T (p.Ser1321Phe) rs779524552 0.00001
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348 0.00001
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His) rs118203750 0.00001
NM_000381.4(MID1):c.1414C>T (p.Arg472Cys) rs1339922842 0.00001
NM_000428.3(LTBP2):c.3176C>T (p.Ala1059Val) rs369840829 0.00001
NM_000436.4(OXCT1):c.1193T>C (p.Met398Thr) rs1746057544 0.00001
NM_000441.2(SLC26A4):c.2235G>A (p.Thr745=) rs748353957 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His) rs193922834 0.00001
NM_000540.3(RYR1):c.10681G>A (p.Gly3561Arg) rs771320029 0.00001
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His) rs376293495 0.00001
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met) rs193922799 0.00001
NM_000554.6(CRX):c.205C>T (p.Arg69Cys) rs771551785 0.00001
NM_000744.7(CHRNA4):c.986A>G (p.Asn329Ser) rs201046441 0.00001
NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile) rs564132747 0.00001
NM_001005242.3(PKP2):c.14G>A (p.Gly5Asp) rs774778142 0.00001
NM_001035.3(RYR2):c.2423A>G (p.His808Arg) rs757443712 0.00001
NM_001037.5(SCN1B):c.266G>A (p.Arg89His) rs138381632 0.00001
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys) rs537292657 0.00001
NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr) rs369854269 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg) rs774916799 0.00001
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln) rs1366402693 0.00001
NM_001134363.3(RBM20):c.1975C>T (p.His659Tyr) rs763208424 0.00001
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys) rs535839168 0.00001
NM_001142459.2(ASB10):c.1386T>G (p.Phe462Leu) rs1801381446 0.00001
NM_001148.6(ANK2):c.10126G>A (p.Gly3376Arg) rs1171741008 0.00001
NM_001148.6(ANK2):c.9823G>A (p.Asp3275Asn) rs1334864660 0.00001
NM_001161352.2(KCNMA1):c.2527G>A (p.Val843Met) rs751748880 0.00001
NM_001243133.2(NLRP3):c.3020A>G (p.Tyr1007Cys) rs1664743681 0.00001
NM_001253852.3(AP4B1):c.1331G>T (p.Gly444Val) rs1345004647 0.00001
NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg) rs727505009 0.00001
NM_001267550.2(TTN):c.18377A>G (p.Glu6126Gly) rs1328808708 0.00001
NM_001267550.2(TTN):c.19447T>C (p.Phe6483Leu) rs373750655 0.00001
NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter) rs576359448 0.00001
NM_001267550.2(TTN):c.30492G>T (p.Glu10164Asp) rs1064797276 0.00001
NM_001267550.2(TTN):c.42279G>T (p.Lys14093Asn) rs2060181153 0.00001
NM_001267550.2(TTN):c.44870A>G (p.Glu14957Gly) rs796961766 0.00001
NM_001267550.2(TTN):c.45310C>T (p.Leu15104Phe) rs370782950 0.00001
NM_001267550.2(TTN):c.47892T>G (p.Asp15964Glu) rs727503623 0.00001
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) rs372618781 0.00001
NM_001267550.2(TTN):c.52552C>T (p.Arg17518Cys) rs200974180 0.00001
NM_001267550.2(TTN):c.52751C>T (p.Thr17584Ile) rs776113556 0.00001
NM_001267550.2(TTN):c.52966G>A (p.Gly17656Arg) rs1269389543 0.00001
NM_001267550.2(TTN):c.55302G>A (p.Gln18434=) rs567251026 0.00001
NM_001267550.2(TTN):c.55516G>A (p.Asp18506Asn) rs757839460 0.00001
NM_001267550.2(TTN):c.55940A>G (p.Glu18647Gly) rs2053260795 0.00001
NM_001267550.2(TTN):c.56461G>A (p.Val18821Ile) rs1576247575 0.00001
NM_001267550.2(TTN):c.5975A>G (p.Glu1992Gly) rs779988998 0.00001
NM_001267550.2(TTN):c.63269A>G (p.Tyr21090Cys) rs377480514 0.00001
NM_001267550.2(TTN):c.6383G>C (p.Trp2128Ser) rs751340835 0.00001
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser) rs72646866 0.00001
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg) rs373636513 0.00001
NM_001267550.2(TTN):c.66780G>C (p.Glu22260Asp) rs574543857 0.00001
NM_001267550.2(TTN):c.66820C>T (p.Arg22274Cys) rs770627108 0.00001
NM_001267550.2(TTN):c.67328G>A (p.Arg22443His) rs1389670032 0.00001
NM_001267550.2(TTN):c.72047A>T (p.Asp24016Val) rs1709212928 0.00001
NM_001267550.2(TTN):c.78259G>T (p.Asp26087Tyr) rs1169880412 0.00001
NM_001267550.2(TTN):c.79420C>G (p.Pro26474Ala) rs761511285 0.00001
NM_001267550.2(TTN):c.80713G>A (p.Gly26905Ser) rs772844758 0.00001
NM_001267550.2(TTN):c.85646C>T (p.Thr28549Ile) rs774609232 0.00001
NM_001267550.2(TTN):c.87550G>A (p.Val29184Met) rs910283551 0.00001
NM_001267550.2(TTN):c.91385G>A (p.Arg30462Gln) rs794729529 0.00001
NM_001267550.2(TTN):c.96566A>T (p.Glu32189Val) rs1002475776 0.00001
NM_001267550.2(TTN):c.97417C>T (p.Arg32473Cys) rs371924787 0.00001
NM_001267550.2(TTN):c.983G>A (p.Arg328His) rs766680186 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 0.00001
NM_001276345.2(TNNT2):c.613G>A (p.Glu205Lys) rs150008205 0.00001
NM_001290321.3(DMXL1):c.3448G>A (p.Gly1150Ser) rs761409832 0.00001
NM_001290321.3(DMXL1):c.8102G>C (p.Trp2701Ser) rs771811497 0.00001
NM_001291303.3(FAT4):c.12107G>C (p.Arg4036Thr) rs897405265 0.00001
NM_001291303.3(FAT4):c.2858G>T (p.Gly953Val) rs371993123 0.00001
NM_001349253.2(SCN11A):c.4457T>C (p.Leu1486Pro) rs1294543814 0.00001
NM_001363118.2(SLC52A2):c.167C>T (p.Ala56Val) rs781884010 0.00001
NM_001369268.1(ACAN):c.1415C>T (p.Pro472Leu) rs535720074 0.00001
NM_001369268.1(ACAN):c.650G>A (p.Arg217Gln) rs757637229 0.00001
NM_001377236.1(AHRR):c.1113-1G>A rs1255759674 0.00001
NM_001378778.1(MPDZ):c.5236G>A (p.Asp1746Asn) rs767397676 0.00001
NM_001384732.1(CPLANE1):c.474G>A (p.Ala158=) rs977870859 0.00001
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr) rs1012947103 0.00001
NM_001440.4(EXTL3):c.1474G>A (p.Glu492Lys) rs1316844249 0.00001
NM_001458.5(FLNC):c.2065G>A (p.Glu689Lys) rs1446694237 0.00001
NM_001458.5(FLNC):c.2627G>T (p.Gly876Val) rs534407127 0.00001
NM_001458.5(FLNC):c.6877C>T (p.Arg2293Cys) rs571239463 0.00001
NM_001458.5(FLNC):c.7652A>G (p.Asp2551Gly) rs1040102987 0.00001
NM_001614.5(ACTG1):c.920C>T (p.Pro307Leu) rs782354322 0.00001
NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg) rs527530568 0.00001
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) rs886042922 0.00001
NM_001886.3(CRYBA4):c.464C>T (p.Pro155Leu) rs780358100 0.00001
NM_001927.4(DES):c.1147C>T (p.Arg383Cys) rs748945548 0.00001
NM_001927.4(DES):c.79G>A (p.Gly27Ser) rs727504877 0.00001
NM_001943.5(DSG2):c.445G>A (p.Val149Ile) rs372606274 0.00001
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726 0.00001
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg) rs1057518943 0.00001
NM_002230.4(JUP):c.1667T>C (p.Met556Thr) rs781884735 0.00001
NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys) rs778886029 0.00001
NM_002471.4(MYH6):c.3140G>A (p.Arg1047His) rs775843647 0.00001
NM_002471.4(MYH6):c.968_969dup (p.Ile324fs) rs1891644944 0.00001
NM_002547.3(OPHN1):c.1270T>G (p.Phe424Val) rs942810312 0.00001
NM_002582.4(PARN):c.281C>T (p.Pro94Leu) rs1972723198 0.00001
NM_002637.4(PHKA1):c.979G>C (p.Glu327Gln) rs1556301388 0.00001
NM_003280.3(TNNC1):c.202+5G>C rs759472560 0.00001
NM_003647.3(DGKE):c.851G>A (p.Gly284Glu) rs1337950463 0.00001
NM_004006.3(DMD):c.9523G>A (p.Val3175Met) rs1332708845 0.00001
NM_004183.4(BEST1):c.449G>C (p.Arg150Pro) rs1249897117 0.00001
NM_004183.4(BEST1):c.641T>C (p.Met214Thr) rs1375872764 0.00001
NM_004281.4(BAG3):c.794C>T (p.Pro265Leu) rs769034041 0.00001
NM_004320.6(ATP2A1):c.1324G>A (p.Glu442Lys) rs772006459 0.00001
NM_004329.3(BMPR1A):c.1000T>A (p.Leu334Met) rs749873461 0.00001
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met) rs763172498 0.00001
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys) rs1060500615 0.00001
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_004415.4(DSP):c.6059G>C (p.Gly2020Ala) rs1327599046 0.00001
NM_004415.4(DSP):c.695G>A (p.Arg232His) rs749438581 0.00001
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) rs751712837 0.00001
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106 0.00001
NM_004525.3(LRP2):c.8623C>T (p.Arg2875Cys) rs1308246487 0.00001
NM_004984.4(KIF5A):c.2452G>A (p.Glu818Lys) rs766050696 0.00001
NM_004984.4(KIF5A):c.52C>T (p.Pro18Ser) rs770302674 0.00001
NM_005120.3(MED12):c.5612G>A (p.Arg1871Gln) rs761581305 0.00001
NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys) rs758468167 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_006172.4(NPPA):c.448C>T (p.Arg150Trp) rs778138090 0.00001
NM_006767.4(LZTR1):c.320G>C (p.Arg107Thr) rs1301901369 0.00001
NM_006946.4(SPTBN2):c.1246G>A (p.Glu416Lys) rs747373105 0.00001
NM_006946.4(SPTBN2):c.4931T>C (p.Ile1644Thr) rs1372277094 0.00001
NM_007055.4(POLR3A):c.740C>T (p.Pro247Leu) rs774454534 0.00001
NM_007078.3(LDB3):c.1870G>A (p.Ala624Thr) rs879218802 0.00001
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter) rs727503123 0.00001
NM_007078.3(LDB3):c.796C>T (p.Arg266Cys) rs776803568 0.00001
NM_007078.3(LDB3):c.827G>A (p.Arg276His) rs774519585 0.00001
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp) rs367792378 0.00001
NM_007194.4(CHEK2):c.1260-8A>G rs863224747 0.00001
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr) rs548850521 0.00001
NM_007194.4(CHEK2):c.507T>G (p.Phe169Leu) rs876659233 0.00001
NM_007294.4(BRCA1):c.1555A>C (p.Lys519Gln) rs397508882 0.00001
NM_007294.4(BRCA1):c.734A>T (p.Asp245Val) rs80356865 0.00001
NM_013266.4(CTNNA3):c.1351C>T (p.His451Tyr) rs1844757301 0.00001
NM_014000.3(VCL):c.1961A>C (p.Asn654Thr) rs1591709946 0.00001
NM_014000.3(VCL):c.2285G>A (p.Arg762Gln) rs540039788 0.00001
NM_014000.3(VCL):c.2848G>A (p.Glu950Lys) rs1174019524 0.00001
NM_014000.3(VCL):c.539A>G (p.Gln180Arg) rs1841681941 0.00001
NM_014000.3(VCL):c.689G>A (p.Arg230His) rs749628307 0.00001
NM_014297.5(ETHE1):c.475C>T (p.Arg159Cys) rs540383420 0.00001
NM_014444.5(TUBGCP4):c.1733T>C (p.Val578Ala) rs543973163 0.00001
NM_014946.4(SPAST):c.1010C>T (p.Thr337Ile) rs1313522467 0.00001
NM_015346.4(ZFYVE26):c.5791G>A (p.Ala1931Thr) rs527964320 0.00001
NM_015570.4(AUTS2):c.2210C>T (p.Pro737Leu) rs761880351 0.00001
NM_015978.3(TNNI3K):c.2225C>T (p.Pro742Leu) rs1210821808 0.00001
NM_016239.4(MYO15A):c.4666G>A (p.Ala1556Thr) rs199556087 0.00001
NM_016599.5(MYOZ2):c.712G>A (p.Gly238Arg) rs796785947 0.00001
NM_017617.5(NOTCH1):c.2093A>G (p.Asn698Ser) rs1338004985 0.00001
NM_017909.4(RMND1):c.1280G>A (p.Arg427His) rs1361528568 0.00001
NM_018055.5(NODAL):c.1021G>A (p.Val341Met) rs751176757 0.00001
NM_018055.5(NODAL):c.986G>A (p.Gly329Asp) rs749630247 0.00001
NM_018196.4(TMLHE):c.230G>A (p.Arg77Gln) rs373294094 0.00001
NM_018418.5(SPATA7):c.19G>T (p.Val7Phe) rs371609982 0.00001
NM_020297.4(ABCC9):c.2023A>G (p.Thr675Ala) rs1946308091 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 0.00001
NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala) rs375050420 0.00001
NM_021120.4(DLG3):c.5A>C (p.His2Pro) rs1410761133 0.00001
NM_021625.5(TRPV4):c.2447G>A (p.Arg816His) rs1431224527 0.00001
NM_022114.4(PRDM16):c.215T>G (p.Val72Gly) rs1208537671 0.00001
NM_022124.6(CDH23):c.1153A>T (p.Met385Leu) rs772474417 0.00001
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp) rs727504455 0.00001
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys) rs562700595 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg) rs587782387 0.00001
NM_025137.4(SPG11):c.3823G>C (p.Ala1275Pro) rs1312391984 0.00001
NM_032043.3(BRIP1):c.1984G>A (p.Ala662Thr) rs571340013 0.00001
NM_032578.4(MYPN):c.3853G>A (p.Gly1285Arg) rs750277122 0.00001
NM_053025.4(MYLK):c.4625C>T (p.Ser1542Leu) rs775096552 0.00001
NM_144573.4(NEXN):c.1810A>G (p.Lys604Glu) rs1441395532 0.00001
NM_144573.4(NEXN):c.380G>A (p.Arg127His) rs776891268 0.00001
NM_144573.4(NEXN):c.620A>G (p.Asp207Gly) rs570946423 0.00001
NM_144573.4(NEXN):c.67G>A (p.Val23Ile) rs571729575 0.00001
NM_152419.3(HGSNAT):c.493+5G>A rs781408761 0.00001
NM_152564.5(VPS13B):c.7724A>T (p.Asn2575Ile) rs549157416 0.00001
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His) rs769611275 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) rs57629361 0.00001
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser) rs951584348 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile) rs1195524446 0.00001
NM_173689.7(CRB2):c.3274G>A (p.Glu1092Lys) rs542637649 0.00001
NM_182961.4(SYNE1):c.20328G>C (p.Trp6776Cys) rs539439844 0.00001
NM_183357.3(ADCY5):c.2122G>C (p.Glu708Gln) rs1210475987 0.00001
NM_198994.3(TGM6):c.1600G>A (p.Ala534Thr) rs368369881 0.00001
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839 0.00001
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn) rs374144657 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe) rs748983904 0.00001
NM_206933.4(USH2A):c.8842C>T (p.Pro2948Ser) rs142315587 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_212482.4(FN1):c.2105C>T (p.Thr702Ile) rs2062355120 0.00001
NC_012920.1(MT-CYB):m.643A>G rs1603218472
NM_000038.6(APC):c.5843A>G (p.Asp1948Gly) rs2149950692
NM_000038.6(APC):c.7757G>A (p.Ser2586Asn) rs199806334
NM_000051.4(ATM):c.6562C>A (p.Leu2188Ile) rs1060501682
NM_000051.4(ATM):c.67C>G (p.Arg23Gly) rs746235533
NM_000059.4(BRCA2):c.4130A>T (p.Asn1377Ile) rs749624669
NM_000059.4(BRCA2):c.425+3A>G rs932657676
NM_000059.4(BRCA2):c.464G>T (p.Arg155Ile) rs377639990
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr) rs80358805
NM_000059.4(BRCA2):c.596C>T (p.Ala199Val) rs878853593
NM_000059.4(BRCA2):c.6844G>A (p.Glu2282Lys) rs1555285137
NM_000059.4(BRCA2):c.7388A>T (p.Asn2463Ile) rs1593918551
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met) rs1466452770
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val) rs369575989
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000113.3(TOR1A):c.863G>T (p.Arg288Leu) rs727502811
NM_000142.5(FGFR3):c.2005C>G (p.Arg669Gly) rs1490564667
NM_000142.5(FGFR3):c.946A>G (p.Thr316Ala) rs2108793196
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.3(MSH6):c.779G>T (p.Gly260Val) rs2104297173
NM_000180.4(GUCY2D):c.799G>C (p.Gly267Arg) rs1975689200
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) rs757756991
NM_000186.4(CFH):c.989T>G (p.Ile330Ser) rs200203654
NM_000214.3(JAG1):c.2076C>A (p.Asp692Glu) rs2067301920
NM_000249.4(MLH1):c.1895A>G (p.Glu632Gly) rs1064793638
NM_000251.3(MSH2):c.1A>G (p.Met1Val) rs267607911
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg) rs730881768
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly) rs730880569
NM_000256.3(MYBPC3):c.3700G>A (p.Gly1234Arg) rs1595840788
NM_000257.4(MYH7):c.121G>A (p.Asp41Asn) rs1157169154
NM_000257.4(MYH7):c.2455C>T (p.Arg819Trp) rs1064793206
NM_000257.4(MYH7):c.3367G>A (p.Glu1123Lys) rs753801146
NM_000257.4(MYH7):c.3550C>T (p.Gln1184Ter) rs2138654006
NM_000257.4(MYH7):c.3635G>A (p.Arg1212Gln) rs1892401372
NM_000257.4(MYH7):c.4541A>G (p.Glu1514Gly) rs1351712658
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His) rs727503240
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys) rs878853840
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000264.5(PTCH1):c.2597G>A (p.Gly866Glu) rs863224651
NM_000283.4(PDE6B):c.2407A>G (p.Asn803Asp) rs771338607
NM_000291.4(PGK1):c.887C>T (p.Ala296Val) rs200543437
NM_000314.8(PTEN):c.41G>A (p.Arg14Lys) rs1589596246
NM_000314.8(PTEN):c.779A>G (p.Lys260Arg) rs1060500125
NM_000326.5(RLBP1):c.710C>T (p.Ala237Val) rs2150968714
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_000329.3(RPE65):c.433G>C (p.Ala145Pro) rs767528365
NM_000335.5(SCN5A):c.1417G>A (p.Glu473Lys) rs1553704489
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser) rs756474485
NM_000335.5(SCN5A):c.3598A>T (p.Ile1200Phe) rs2125861720
NM_000335.5(SCN5A):c.5258C>T (p.Thr1753Ile) rs2125826130
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.288C>A (p.Asn96Lys) rs886039297
NM_000350.3(ABCA4):c.4519G>T (p.Gly1507Trp) rs568792949
NM_000350.3(ABCA4):c.4535C>T (p.Pro1512Leu) rs61750150
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.677G>A (p.Arg226His) rs144310835
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly) rs1060499912
NM_000368.5(TSC1):c.1358C>T (p.Ser453Phe) rs1271797824
NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp) rs1564478519
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln) rs193922421
NM_000410.4(HFE):c.88C>A (p.Leu30Met) rs760685317
NM_000440.3(PDE6A):c.1747T>A (p.Tyr583Asn) rs1752305008
NM_000441.2(SLC26A4):c.347G>A (p.Gly116Asp) rs2129311246
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del) rs758076338
NM_000513.2(OPN1MW):c.1013G>T (p.Gly338Val) rs1557159695
NM_000516.7(GNAS):c.976C>T (p.Pro326Ser) rs2146299204
NM_000539.3(RHO):c.1032G>C (p.Gln344His) rs749753555
NM_000539.3(RHO):c.937-6T>A rs543521798
NM_000540.3(RYR1):c.1196C>T (p.Ala399Val) rs1443878514
NM_000540.3(RYR1):c.5435T>C (p.Leu1812Pro) rs1969278145
NM_000548.5(TSC2):c.700G>C (p.Glu234Gln) rs397515018
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met) rs1553244881
NM_000702.4(ATP1A2):c.1318G>A (p.Val440Met) rs768088341
NM_000702.4(ATP1A2):c.713G>A (p.Arg238His) rs768136835
NM_000719.7(CACNA1C):c.6302G>A (p.Arg2101Lys) rs2153891904
NM_000726.5(CACNB4):c.272A>T (p.Lys91Ile) rs2099847658
NM_001001331.4(ATP2B2):c.1508C>T (p.Thr503Met) rs1487836380
NM_001003800.2(BICD2):c.2422C>T (p.Arg808Cys) rs143189118
NM_001004416.3(UMODL1):c.3905A>G (p.Tyr1302Cys) rs2123402518
NM_001005242.3(PKP2):c.2126T>C (p.Leu709Pro) rs777577592
NM_001005242.3(PKP2):c.834G>T (p.Gln278His) rs1956949832
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys) rs968974699
NM_001007527.2(LMBRD2):c.581G>A (p.Gly194Asp) rs2111900110
NM_001008537.3(NEXMIF):c.4363A>C (p.Lys1455Gln) rs2147438722
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.4654GTC[1] (p.Val1553del) rs1362745259
NM_001017979.3(RAB28):c.377T>G (p.Leu126Trp) rs2108960104
NM_001018005.2(TPM1):c.832C>G (p.Leu278Val) rs730881161
NM_001018115.3(FANCD2):c.1278+5G>T rs796652647
NM_001029883.3(PCARE):c.740T>A (p.Val247Asp) rs77828062
NM_001034853.2(RPGR):c.248-28_248-10del rs1569260656
NM_001035.3(RYR2):c.7543G>A (p.Ala2515Thr) rs1682556050
NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr) rs1419719746
NM_001039213.4(CEACAM16):c.673C>T (p.Arg225Cys) rs759556595
NM_001040142.2(SCN2A):c.1399G>T (p.Ala467Ser) rs745774658
NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro) rs587777604
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr) rs527236092
NM_001099271.2(POC5):c.1054A>T (p.Lys352Ter) rs901059127
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp) rs199604590
NM_001103.4(ACTN2):c.1699G>A (p.Glu567Lys) rs1659393136
NM_001110556.2(FLNA):c.2993C>G (p.Ala998Gly) rs782099443
NM_001110556.2(FLNA):c.5152G>A (p.Gly1718Ser) rs2148107431
NM_001110556.2(FLNA):c.7436G>T (p.Cys2479Phe) rs2067604638
NM_001111125.3(IQSEC2):c.1417G>A (p.Glu473Lys) rs2147104606
NM_001114748.2(TMEM240):c.389G>A (p.Trp130Ter) rs2100695177
NM_001134363.3(RBM20):c.1528-1G>C rs534513476
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134831.2(AHI1):c.2258A>T (p.Asp753Val) rs1562758269
NM_001142800.2(EYS):c.1185-3C>T rs1562140876
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001145809.2(MYH14):c.3659C>T (p.Thr1220Ile) rs1278715947
NM_001156.5(ANXA7):c.1055C>T (p.Pro352Leu) rs2132652056
NM_001164380.2(STAU2):c.226C>T (p.Pro76Ser) rs2130525530
NM_001165963.4(SCN1A):c.3922G>A (p.Glu1308Lys) rs1553529545
NM_001195553.2(DCX):c.518A>G (p.Asn173Ser) rs2147263136
NM_001232.4(CASQ2):c.652G>A (p.Glu218Lys) rs1557792917
NM_001257.5(CDH13):c.1703C>G (p.Thr568Ser) rs2151007916
NM_001267550.2(TTN):c.13003GAA[1] (p.Glu4336del) rs1481572021
NM_001267550.2(TTN):c.18872C>T (p.Pro6291Leu) rs2079914758
NM_001267550.2(TTN):c.19357G>A (p.Gly6453Ser) rs374964612
NM_001267550.2(TTN):c.20138A>C (p.Lys6713Thr) rs1410340266
NM_001267550.2(TTN):c.2486_2491del (p.Gly829_Tyr830del) rs2154351525
NM_001267550.2(TTN):c.25922-6T>G rs796983452
NM_001267550.2(TTN):c.32409GAA[1] (p.Lys10805del) rs1254565797
NM_001267550.2(TTN):c.32554+1G>T rs376018437
NM_001267550.2(TTN):c.41492T>C (p.Ile13831Thr) rs2154230322
NM_001267550.2(TTN):c.42524T>G (p.Phe14175Cys) rs575813993
NM_001267550.2(TTN):c.43955T>G (p.Ile14652Ser) rs767038885
NM_001267550.2(TTN):c.49589T>G (p.Leu16530Arg) rs2154200906
NM_001267550.2(TTN):c.50317G>A (p.Glu16773Lys) rs879025295
NM_001267550.2(TTN):c.50793C>A (p.Val16931=) rs2056308114
NM_001267550.2(TTN):c.50794A>T (p.Asn16932Tyr) rs2056307677
NM_001267550.2(TTN):c.51443C>G (p.Pro17148Arg) rs2154198776
NM_001267550.2(TTN):c.55100T>G (p.Ile18367Ser) rs758176369
NM_001267550.2(TTN):c.6292C>T (p.Arg2098Trp) rs763722868
NM_001267550.2(TTN):c.64266A>C (p.Lys21422Asn) rs758963173
NM_001267550.2(TTN):c.7208T>C (p.Ile2403Thr) rs760895168
NM_001267550.2(TTN):c.74618T>G (p.Leu24873Arg) rs2154169365
NM_001267550.2(TTN):c.7907A>T (p.Glu2636Val) rs1207371966
NM_001267550.2(TTN):c.83062C>T (p.Arg27688Cys) rs757441189
NM_001267550.2(TTN):c.88658T>G (p.Leu29553Arg) rs1453445227
NM_001267550.2(TTN):c.91610TTA[1] (p.Ile30538del) rs754953607
NM_001267550.2(TTN):c.91936A>C (p.Asn30646His) rs786205328
NM_001267550.2(TTN):c.92128C>A (p.Pro30710Thr) rs2154148331
NM_001267550.2(TTN):c.92830C>T (p.Arg30944Cys) rs1393282264
NM_001267550.2(TTN):c.95540G>C (p.Arg31847Pro) rs771179752
NM_001267550.2(TTN):c.95950A>G (p.Arg31984Gly) rs2154144165
NM_001267550.2(TTN):c.97178_97189del (p.Lys32393_Leu32397delinsIle) rs2154142808
NM_001271.4(CHD2):c.4555G>A (p.Ala1519Thr) rs1183987736
NM_001271.4(CHD2):c.4592+37_4592+38delinsG rs2141881755
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val) rs369181536
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys) rs1554308513
NM_001278116.2(L1CAM):c.985G>A (p.Val329Met) rs2148497835
NM_001289.6(CLIC2):c.360T>G (p.Phe120Leu) rs2124147316
NM_001289808.2(CRYAB):c.167G>C (p.Arg56Pro) rs781986102
NM_001289808.2(CRYAB):c.266T>A (p.Leu89His) rs2137381932
NM_001291415.2(KDM6A):c.1324C>A (p.Gln442Lys) rs2147966757
NM_001348716.2(KDM6B):c.1264G>A (p.Ala422Thr)
NM_001348716.2(KDM6B):c.1639CCAACC[1] (p.547PT[1])
NM_001348716.2(KDM6B):c.283G>A (p.Gly95Ser)
NM_001348716.2(KDM6B):c.3444T>G (p.Asn1148Lys)
NM_001348716.2(KDM6B):c.4254G>T (p.Trp1418Cys)
NM_001348716.2(KDM6B):c.4540A>G (p.Met1514Val)
NM_001348716.2(KDM6B):c.4568G>C (p.Arg1523Pro)
NM_001348716.2(KDM6B):c.4708G>C (p.Glu1570Gln)
NM_001348716.2(KDM6B):c.4750A>C (p.Asn1584His)
NM_001348716.2(KDM6B):c.4895A>G (p.Asp1632Gly)
NM_001353921.2(ARHGEF9):c.368G>A (p.Arg123His) rs868956996
NM_001364905.1(LRBA):c.7019A>G (p.Gln2340Arg) rs2151993396
NM_001364905.1(LRBA):c.840G>C (p.Lys280Asn) rs1344342751
NM_001365536.1(SCN9A):c.2467C>G (p.Leu823Val) rs1029813878
NM_001369268.1(ACAN):c.7073G>A (p.Cys2358Tyr) rs2141638242
NM_001369268.1(ACAN):c.7389C>T (p.Gly2463=) rs747217927
NM_001370595.2(COA8):c.56_70del (p.Phe19_Gly23del) rs2142268076
NM_001371279.1(REEP1):c.247G>C (p.Gly83Arg) rs2104244562
NM_001376.5(DYNC1H1):c.2107G>A (p.Ala703Thr) rs2141274903
NM_001376.5(DYNC1H1):c.6619-11G>A rs2152578970
NM_001377.3(DYNC2H1):c.11231A>T (p.Glu3744Val) rs1867124708
NM_001377.3(DYNC2H1):c.872G>T (p.Cys291Phe) rs770790055
NM_001378328.1(CELSR1):c.6826G>C (p.Glu2276Gln) rs2147230247
NM_001378452.1(ITPR1):c.2054A>G (p.Glu685Gly) rs756830183
NM_001384140.1(PCDH15):c.4978dup (p.Ser1660fs) rs570460962
NM_001407.3(CELSR3):c.8786G>T (p.Arg2929Leu) rs1284159485
NM_001458.5(FLNC):c.248_265dup (p.Pro88_Arg89insHisArgLysPheHisPro) rs2128932214
NM_001458.5(FLNC):c.4925C>G (p.Thr1642Arg) rs756074974
NM_001458.5(FLNC):c.5306_5314del (p.Glu1769_Pro1771del) rs2128938073
NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly) rs573899913
NM_001458.5(FLNC):c.6205G>A (p.Ala2069Thr) rs368562957
NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg) rs867808948
NM_001458.5(FLNC):c.7091G>C (p.Arg2364Pro) rs201672146
NM_001458.5(FLNC):c.7372G>A (p.Glu2458Lys) rs2128940160
NM_001492.6(GDF1):c.891G>C (p.Gln297His) rs890558836
NM_001605.3(AARS1):c.736C>T (p.Arg246Ter) rs756337758
NM_001614.5(ACTG1):c.230C>G (p.Thr77Ser) rs2143783478
NM_001614.5(ACTG1):c.701C>T (p.Ser234Phe) rs11549179
NM_001658.4(ARF1):c.296G>A (p.Arg99His) rs1558087712
NM_001759.4(CCND2):c.860T>G (p.Ile287Ser) rs2120593698
NM_001793.6(CDH3):c.335C>T (p.Ala112Val) rs1567447671
NM_001844.5(COL2A1):c.2453G>C (p.Arg818Pro) rs376834551
NM_001844.5(COL2A1):c.4012A>G (p.Ser1338Gly) rs2136508315
NM_001844.5(COL2A1):c.805C>T (p.Pro269Ser) rs2136612454
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.4(COL6A2):c.1336G>C (p.Asp446His) rs535007570
NM_001904.4(CTNNB1):c.1140C>G (p.Asn380Lys) rs1334749796
NM_001927.4(DES):c.1157G>A (p.Arg386His) rs1029457073
NM_001927.4(DES):c.725T>A (p.Val242Glu) rs794728984
NM_001927.4(DES):c.944G>A (p.Arg315His) rs771455648
NM_001939.3(DRP2):c.86del (p.Ser29fs) rs2147332623
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu) rs2126821327
NM_002070.4(GNAI2):c.535C>T (p.Arg179Cys) rs137853226
NM_002181.4(IHH):c.829C>T (p.Leu277Phe) rs2106307226
NM_002230.4(JUP):c.633C>A (p.Asn211Lys) rs372145644
NM_002230.4(JUP):c.809T>G (p.Leu270Arg) rs794729040
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly) rs138572790
NM_002471.4(MYH6):c.1100A>T (p.Gln367Leu) rs2138615086
NM_002471.4(MYH6):c.2292+1G>T rs771569935
NM_002471.4(MYH6):c.2717G>A (p.Arg906His) rs527636904
NM_002471.4(MYH6):c.3352G>A (p.Glu1118Lys) rs750174797
NM_002471.4(MYH6):c.3607dup (p.Ala1203fs) rs1114167343
NM_002471.4(MYH6):c.43T>C (p.Tyr15His) rs1229592151
NM_002471.4(MYH6):c.569G>A (p.Arg190His) rs1891729151
NM_002471.4(MYH6):c.820del (p.Arg273_Val274insTer) rs2138616823
NM_002471.4(MYH6):c.961G>C (p.Val321Leu) rs753937010
NM_002473.6(MYH9):c.1208A>G (p.Lys403Arg) rs747265281
NM_002609.4(PDGFRB):c.1574C>T (p.Pro525Leu) rs2113902466
NM_002637.4(PHKA1):c.938A>C (p.Tyr313Ser) rs1306876951
NM_002700.3(POU4F3):c.952G>A (p.Val318Met) rs2126962041
NM_002709.3(PPP1CB):c.667dup (p.Ser223fs) rs2148056870
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp) rs1471641294
NM_002764.4(PRPS1):c.334G>C (p.Val112Leu) rs2147682370
NM_002764.4(PRPS1):c.779G>A (p.Arg260His) rs1131691495
NM_002819.5(PTBP1):c.1A>G (p.Met1Val) rs2145008460
NM_002878.4(RAD51D):c.782A>C (p.Lys261Thr) rs1060502964
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) rs773583951
NM_002941.4(ROBO1):c.214G>A (p.Glu72Lys) rs2107686661
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro) rs2102336180
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr) rs199789849
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg) rs368541637
NM_003413.4(ZIC3):c.135CGC[6] (p.Ala53_Ala55del) rs748325646
NM_003476.5(CSRP3):c.208G>T (p.Gly70Trp) rs777211110
NM_003476.5(CSRP3):c.265G>T (p.Gly89Cys) rs367827746
NM_003590.5(CUL3):c.223A>C (p.Thr75Pro) rs2106304277
NM_003673.4(TCAP):c.310G>A (p.Glu104Lys) rs2145073848
NM_003737.4(DCHS1):c.8186A>T (p.His2729Leu) rs148148252
NM_003923.3(FOXH1):c.452G>A (p.Gly151Asp) rs1825095736
NM_003936.5(CDK5R2):c.292C>T (p.Gln98Ter) rs2105999258
NM_004004.6(GJB2):c.488T>G (p.Met163Arg) rs1273330603
NM_004006.3(DMD):c.2962T>C (p.Ser988Pro) rs2040307294
NM_004115.4(FGF14):c.380T>A (p.Met127Lys) rs2140447875
NM_004187.5(KDM5C):c.80C>T (p.Pro27Leu) rs2146978491
NM_004415.4(DSP):c.1163C>T (p.Thr388Ile) rs2113673135
NM_004415.4(DSP):c.3146C>G (p.Ser1049Trp) rs751361395
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.7196A>G (p.Glu2399Gly) rs2113701820
NM_004415.4(DSP):c.7586A>G (p.Asp2529Gly) rs2113702714
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val) rs374137476
NM_004415.4(DSP):c.944G>A (p.Arg315His) rs558825586
NM_004517.4(ILK):c.458A>G (p.Glu153Gly) rs867451051
NM_004733.4(SLC33A1):c.1487G>C (p.Cys496Ser) rs762008203
NM_004840.3(ARHGEF6):c.2093T>C (p.Ile698Thr) rs759440067
NM_004984.4(KIF5A):c.1569+5G>A rs2140165311
NM_005120.3(MED12):c.3691+5G>A rs2147806182
NM_005120.3(MED12):c.5042C>A (p.Thr1681Asn) rs2092332349
NM_005199.5(CHRNG):c.86T>A (p.Leu29Gln) rs2106219773
NM_005257.6(GATA6):c.320C>G (p.Ser107Trp) rs2033044857
NM_005422.4(TECTA):c.5417G>A (p.Cys1806Tyr) rs2135130073
NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs) rs786205259
NM_005529.7(HSPG2):c.7684C>T (p.Pro2562Ser) rs755215244
NM_005633.4(SOS1):c.137A>T (p.Gln46Leu) rs1190714377
NM_005751.5(AKAP9):c.9536T>A (p.Leu3179His) rs2130892060
NM_005861.4(STUB1):c.107T>C (p.Leu36Pro) rs2151503709
NM_005902.4(SMAD3):c.1151A>G (p.Tyr384Cys) rs2140323808
NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys) rs1962537574
NM_006017.3(PROM1):c.1983+5G>T rs1560421595
NM_006059.4(LAMC3):c.1939G>A (p.Gly647Ser) rs144242690
NM_006086.4(TUBB3):c.752G>A (p.Arg251His) rs2151092893
NM_006201.5(CDK16):c.978G>A (p.Trp326Ter) rs2147334693
NM_006231.4(POLE):c.800C>T (p.Pro267Leu) rs2136018387
NM_006246.5(PPP2R5E):c.605T>G (p.Val202Gly) rs2139802538
NM_006258.4(PRKG1):c.421A>G (p.Lys141Glu) rs761759814
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006393.3(NEBL):c.2612-6A>G rs377317796
NM_006445.4(PRPF8):c.3017C>T (p.Ala1006Val) rs1201048866
NM_006612.6(KIF1C):c.2911C>T (p.Pro971Ser) rs202059928
NM_006662.3(SRCAP):c.9338_9341del (p.Leu3113fs) rs2053199279
NM_006662.3(SRCAP):c.9344del (p.Pro3115fs) rs2151301366
NM_006662.3(SRCAP):c.9364del (p.Leu3122fs) rs2151301385
NM_006796.3(AFG3L2):c.1861C>G (p.Leu621Val) rs756912142
NM_007078.3(LDB3):c.1235C>G (p.Pro412Arg) rs1416924382
NM_007078.3(LDB3):c.59del (p.Gly20fs) rs1308589918
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu) rs563752762
NM_007194.4(CHEK2):c.115T>C (p.Ser39Pro) rs1060502696
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1591G>T (p.Glu531Ter) rs587781710
NM_007294.4(BRCA1):c.1945G>C (p.Glu649Gln) rs80356907
NM_007294.4(BRCA1):c.41T>C (p.Val14Ala) rs2055732014
NM_007294.4(BRCA1):c.5467+3A>C rs431825417
NM_007294.4(BRCA1):c.670G>C (p.Ala224Pro) rs431825419
NM_012414.4(RAB3GAP2):c.3400G>A (p.Val1134Met) rs138489010
NM_013266.4(CTNNA3):c.1251A>G (p.Ile417Met) rs1000274422
NM_013266.4(CTNNA3):c.2638dup (p.Ile880fs) rs761152565
NM_013266.4(CTNNA3):c.892C>G (p.Pro298Ala) rs1287288566
NM_013291.3(CPSF1):c.2058G>T (p.Lys686Asn) rs1554864690
NM_014000.3(VCL):c.2276G>A (p.Arg759Gln) rs1425397914
NM_014225.6(PPP2R1A):c.658G>A (p.Val220Met) rs2122337413
NM_014249.4(NR2E3):c.155A>G (p.Asp52Gly) rs2140288687
NM_014611.3(MDN1):c.14558T>C (p.Ile4853Thr) rs2128301352
NM_014611.3(MDN1):c.6127C>T (p.His2043Tyr) rs2128313218
NM_014714.4(IFT140):c.2090T>C (p.Phe697Ser) rs1343501211
NM_014846.4(WASHC5):c.2149C>T (p.Arg717Cys) rs1354434507
NM_014846.4(WASHC5):c.694G>C (p.Asp232His) rs1817136668
NM_015103.3(PLXND1):c.2695_2696del (p.Leu899fs) rs2085270994
NM_015103.3(PLXND1):c.2753G>A (p.Arg918Gln) rs767215800
NM_015141.4(GPD1L):c.697G>A (p.Gly233Arg) rs1701035626
NM_015177.2(DTX4):c.974G>A (p.Ser325Asn) rs2135519286
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val) rs74365027
NM_015629.4(PRPF31):c.325A>G (p.Ile109Val) rs1600337134
NM_015629.4(PRPF31):c.917A>C (p.Asp306Ala) rs2146436830
NM_015662.3(IFT172):c.4988C>T (p.Pro1663Leu) rs1357445568
NM_015909.4(NBAS):c.2186C>A (p.Ala729Glu) rs755490212
NM_015909.4(NBAS):c.4300G>A (p.Asp1434Asn) rs750091340
NM_015915.5(ATL1):c.508A>G (p.Ile170Val) rs2140205496
NM_016203.4(PRKAG2):c.504A>C (p.Gln168His) rs2151477345
NM_016247.4(IMPG2):c.3632A>C (p.Glu1211Ala) rs2107203861
NM_016322.4(RAB14):c.200C>T (p.Thr67Met) rs2132025937
NM_016599.5(MYOZ2):c.148C>T (p.Leu50Phe) rs1015335570
NM_017433.5(MYO3A):c.3059C>A (p.Ala1020Asp) rs1169622632
NM_018082.6(POLR3B):c.707T>C (p.Ile236Thr) rs1228446368
NM_018117.12(WDR11):c.673C>G (p.Leu225Val) rs2133740277
NM_018122.5(DARS2):c.228-16C>G rs778731200
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020433.5(JPH2):c.1247G>A (p.Arg416His) rs190802013
NM_020433.5(JPH2):c.1714C>T (p.Arg572Cys) rs377366285
NM_020433.5(JPH2):c.1995GGTGGA[3] (p.666VE[3]) rs763064503
NM_020774.4(MIB1):c.1307T>G (p.Val436Gly) rs1268683448
NM_020774.4(MIB1):c.992C>A (p.Ser331Ter) rs1363410355
NM_020779.4(WDR35):c.3363-29_3363-18del rs1270558293
NM_021625.5(TRPV4):c.1354G>A (p.Val452Met) rs2136485067
NM_021831.6(AGBL5):c.1265C>G (p.Pro422Arg) rs140111286
NM_021956.5(GRIK2):c.1969G>A (p.Ala657Thr) rs1790057505
NM_022114.4(PRDM16):c.2297G>A (p.Gly766Asp) rs778681326
NM_022114.4(PRDM16):c.2855C>A (p.Thr952Lys) rs749180764
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) rs121908351
NM_022131.3(CLSTN2):c.2317G>T (p.Glu773Ter) rs2107794455
NM_022455.5(NSD1):c.6152-14G>A rs587784182
NM_024422.6(DSC2):c.1321G>A (p.Ala441Thr) rs2144814171
NM_024422.6(DSC2):c.2516A>G (p.Tyr839Cys) rs2144781456
NM_024675.4(PALB2):c.2807T>C (p.Leu936Ser) rs587780213
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg) rs141321678
NM_031206.7(LAS1L):c.353C>T (p.Ala118Val) rs2069618118
NM_031418.4(ANO3):c.2945A>G (p.Ter982Trp) rs1853844416
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.3(BRIP1):c.2319T>A (p.Asp773Glu) rs1555590447
NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val) rs1561464218
NM_032578.4(MYPN):c.2468T>C (p.Ile823Thr) rs2134201372
NM_032578.4(MYPN):c.2726A>C (p.Glu909Ala) rs1554849161
NM_032590.5(KDM2B):c.1894G>T (p.Asp632Tyr) rs1555292026
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser) rs374515005
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_144573.4(NEXN):c.1875AGA[1] (p.Glu626del) rs2102181599
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del) rs727505124
NM_144670.6(A2ML1):c.2405G>T (p.Arg802Leu) rs201562272
NM_145698.5(ACBD5):c.1446del (p.Thr483fs) rs1564578483
NM_152443.3(RDH12):c.152T>C (p.Ile51Thr) rs104894473
NM_153252.5(BRWD3):c.1685G>A (p.Arg562His) rs2147754235
NM_153252.5(BRWD3):c.67G>C (p.Gly23Arg) rs2147876904
NM_170707.4(LMNA):c.1148A>G (p.Glu383Gly) rs1448774273
NM_170707.4(LMNA):c.1786_1800del (p.Asp596_Ala600del) rs2102901580
NM_173474.4(NTAN1):c.150G>T (p.Gln50His) rs1402220653
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg) rs201454653
NM_178857.6(RP1L1):c.592A>G (p.Thr198Ala) rs1798078707
NM_181458.4(PAX3):c.1127C>A (p.Pro376His) rs1692132493
NM_182894.3(VSX2):c.455G>A (p.Arg152Lys) rs1566883262
NM_182925.5(FLT4):c.3023C>T (p.Pro1008Leu) rs149033942
NM_183065.4(TMEM107):c.*638C>A rs368022715
NM_198253.3(TERT):c.2303A>T (p.Asp768Val) rs1579564948
NM_198253.3(TERT):c.395G>A (p.Arg132Gln) rs2126690021
NM_198525.3(KIF7):c.2153G>C (p.Arg718Pro) rs138021610
NM_199437.2(PRDM10):c.2018G>A (p.Cys673Tyr) rs1319176059
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) rs1204363918
NM_201253.3(CRB1):c.849-26A>G rs1558070004
NM_201269.3(ZNF644):c.107C>G (p.Thr36Ser) rs1179423661
NM_201596.3(CACNB2):c.326A>G (p.Lys109Arg) rs754070618
NM_205836.3(FBXO38):c.712G>A (p.Val238Ile) rs144890577
NM_206933.2(USH2A):c.[15319C>T;3902G>T]
NM_206933.4(USH2A):c.10109G>T (p.Cys3370Phe) rs1558099166
NM_206933.4(USH2A):c.1808G>A (p.Gly603Glu) rs1427232199
NM_206933.4(USH2A):c.3316+6T>C rs373631038
NM_206933.4(USH2A):c.4036G>A (p.Gly1346Arg) rs1558311789
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val) rs201526850
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_212482.4(FN1):c.638G>A (p.Cys213Tyr) rs1559604072

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.