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
|
|